From 6523ced9f44a6af2b0ff4e040832efcf54805740 Mon Sep 17 00:00:00 2001 From: Trish Whetzel Date: Sun, 1 Dec 2024 23:04:03 -0800 Subject: [PATCH] Monthly confirmed synonyms evidence update (#8447) * [create-pull-request] automated change * fix qc-related-exact-synonym errors --------- Co-authored-by: twhetzel --- src/ontology/mondo-edit.obo | 89668 +++++++++++++++++----------------- 1 file changed, 44882 insertions(+), 44786 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index c287f086ef..4851ca6295 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -78,7 +78,7 @@ name: disease def: "A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism." [OGMS:0000031] subset: ordo_disorder {source="Orphanet:377788"} synonym: "condition" EXACT [NCIT:C2991] -synonym: "disease" EXACT [NCIT:C2991] +synonym: "disease" EXACT [DOID:4, NCIT:C2991, Orphanet:377788] synonym: "disease or disorder" EXACT [NCIT:C2991] synonym: "disease or disorder, non-neoplastic" EXACT [NCIT:C2991] synonym: "diseases" EXACT [NCIT:C2991] @@ -115,10 +115,10 @@ name: adrenocortical insufficiency def: "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency)." [NCIT:C26691] subset: otar {source="MONDO:OTAR"} synonym: "adrenal cortical hypofunction" EXACT [DOID:10493, NCIT:C26691] -synonym: "adrenal cortical insufficiency" EXACT [DOID:10493, NCIT:C26691, NCIT:C27150] -synonym: "adrenal gland insufficiency" EXACT [NCIT:C26691] -synonym: "adrenal insufficiency" EXACT [NCIT:C26691] -synonym: "adrenocortical insufficiency" EXACT [NCIT:C26691] +synonym: "adrenal cortical insufficiency" EXACT [DOID:10493, NCIT:C26691] +synonym: "adrenal gland insufficiency" EXACT [icd11.foundation:733056203, NCIT:C26691] +synonym: "adrenal insufficiency" EXACT [icd11.foundation:733056203, NCIT:C26691] +synonym: "adrenocortical insufficiency" EXACT [icd11.foundation:733056203, NCIT:C26691] synonym: "corticoadrenal insufficiency" EXACT [DOID:10493] synonym: "hypoadrenalism" RELATED [GARD:0006722] synonym: "hypocortisolemia" EXACT [NCIT:C26691] @@ -176,9 +176,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bleeding disorder, platelet-type" EXACT [OMIMPS:231200] -synonym: "blood platelet disease" BROAD [DOID:2218] -synonym: "platelet disorder" BROAD [DOID:2218] -synonym: "thrombocytopathy" RELATED [DOID:2218] +synonym: "blood platelet disease" BROAD [] +synonym: "platelet disorder" BROAD [] +synonym: "thrombocytopathy" RELATED [] xref: DOID:2218 {source="MONDO:equivalentTo"} xref: MEDGEN:610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D001791 {source="DOID:2218"} @@ -284,7 +284,7 @@ id: MONDO:0000022 name: nocturnal enuresis def: "Urination during sleep." [NCIT:C118172] comment: See genetic heterogeneity of OMIM 600631. -synonym: "bedwetting" EXACT [] +synonym: "bedwetting" EXACT [NCIT:C118172] synonym: "enuresis, nocturnal" EXACT [] synonym: "sleep enuresis" EXACT [NCIT:C118172] xref: icd11.foundation:1048673005 {source="MONDO:equivalentTo"} @@ -305,8 +305,8 @@ subset: orphanet_rare {source="Orphanet:464724"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fever-associated acute infantile liver failure syndrome" EXACT [Orphanet:464724] -synonym: "infantile liver failure syndrome" EXACT [OMIMPS:615438] -synonym: "liver failure, infantile" EXACT [OMIMPS:615438] +synonym: "infantile liver failure syndrome" EXACT [DOID:0080716, OMIMPS:615438] +synonym: "liver failure, infantile" EXACT [] xref: DOID:0080716 {source="MONDO:equivalentTo"} xref: GARD:17820 {source="MONDO:GARD"} xref: MEDGEN:1813021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531,7 +531,7 @@ synonym: "familial isolated growth hormone deficiency" EXACT [DOID:0060870] synonym: "ICGHD" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] synonym: "IGHD" EXACT ABBREVIATION [DOID:0060870] synonym: "isolated growth hormone deficiency" EXACT [DOID:0060870, OMIMPS:262400] -synonym: "non-acquired isolated growth hormone deficiency" RELATED [DOID:0060870] +synonym: "non-acquired isolated growth hormone deficiency" RELATED [] xref: DOID:0060870 {source="MONDO:equivalentTo"} xref: GARD:12556 {source="MONDO:GARD"} xref: ICD10CM:E23.0 {source="Orphanet:631", source="DOID:0060870", source="Orphanet:631/ntbt", source="Orphanet:631/inclusion"} @@ -686,7 +686,7 @@ name: Mycobacterium tuberculosis, susceptibility subset: predisposition synonym: "Mycobacterium tuberculosis, susceptibility to" EXACT [OMIM:607948] synonym: "Mycobacterium tuberculosis, susceptibility to infection by" EXACT [GARD:0002456] -synonym: "tuberculosis, susceptibility to" BROAD [OMIM:607948, OMIM:genemap2] +synonym: "tuberculosis, susceptibility to" BROAD [] xref: MESH:C536092 {source="MONDO:equivalentTo"} xref: OMIM:607948 {source="GARD:0002456", source="MONDO:equivalentTo"} xref: Orphanet:3389 {source="OMIM:607948"} @@ -853,7 +853,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "familial precocious puberty" NARROW [GARD:0007446] synonym: "idiopathic sexual precocity" NARROW [GARD:0007446] synonym: "pubertas praecox" EXACT [https://rarediseases.org/rare-diseases/precocious-puberty/] -synonym: "sexual precocity" EXACT [GARD:0007446, https://rarediseases.org/rare-diseases/precocious-puberty/] +synonym: "sexual precocity" EXACT [GARD:0007446, https://rarediseases.org/rare-diseases/precocious-puberty/, NCIT:C79704] xref: HP:0000826 xref: ICD10CM:E22.8 {source="Orphanet:95708/nd", source="Orphanet:95708"} xref: ICD10CM:E30.1 {source="Orphanet:95708/nd", source="MONDO:equivalentTo", source="Orphanet:95708"} @@ -1198,7 +1198,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2623"} subset: orphanet_rare {source="Orphanet:2623"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "geleophysic dwarfism" EXACT [Orphanet:2623] +synonym: "geleophysic dwarfism" EXACT [DOID:0111724, Orphanet:2623] synonym: "geleophysic dwarfism syndrome" RELATED [https://orcid.org/0000-0002-6601-2165] xref: DOID:0111724 {source="MONDO:equivalentTo"} xref: GARD:2449 {source="MONDO:GARD"} @@ -1285,9 +1285,9 @@ subset: orphanet_rare {source="Orphanet:2268"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CIID" RELATED ABBREVIATION [GARD:0002945] -synonym: "ICF syndrome" RELATED [DOID:0090007] +synonym: "ICF syndrome" RELATED [] synonym: "immunodeficiency-centromeric instability-facial anomalies" EXACT [OMIMPS:242860] -synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [Orphanet:2268] +synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [DOID:0090007, Orphanet:2268] xref: DOID:0090007 {source="MONDO:equivalentTo"} xref: GARD:2945 {source="MONDO:GARD"} xref: ICD10CM:D84.8 {source="Orphanet:2268/attributed", source="Orphanet:2268/ntbt", source="Orphanet:2268", source="DOID:0090007"} @@ -1493,7 +1493,7 @@ id: MONDO:0000152 name: thiamine-responsive dysfunction syndrome subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "thiamine-responsive dysfunction syndrome" EXACT CLINGEN_LABEL [] +synonym: "thiamine-responsive dysfunction syndrome" EXACT CLINGEN_LABEL [OMIMPS:249270] xref: OMIMPS:249270 {source="MONDO:equivalentTo"} is_a: MONDO:0017578 {source="https://orcid.org/0000-0001-5208-3432"} ! disorder of thiamine metabolism and transport relationship: disease_responds_to CHEBI:26948 ! vitamin B1 @@ -1510,7 +1510,7 @@ subset: ordo_group_of_disorders {source="Orphanet:216675"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "complete transposition" EXACT [Orphanet:216675] -synonym: "great vessels transposition" EXACT [NCIT:C84742] +synonym: "great vessels transposition" EXACT [icd11.foundation:429190257, NCIT:C84742] synonym: "TGA" EXACT ABBREVIATION [Orphanet:216675] synonym: "TGV" EXACT ABBREVIATION [Orphanet:216675] synonym: "transposition of great vessels" EXACT [NCIT:C84742] @@ -1558,8 +1558,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "trigonocephalia" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "trigonocephalus" RELATED [https://orcid.org/0000-0002-6601-2165] -synonym: "trigonocephaly" EXACT [OMIMPS:190440] -synonym: "trigonocephaly, isolated" RELATED [OMIMPS:190440] +synonym: "trigonocephaly" EXACT [icd11.foundation:20816218] +synonym: "trigonocephaly, isolated" RELATED [] xref: icd11.foundation:20816218 {source="MONDO:equivalentTo"} xref: MEDGEN:82713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:28740008 {source="MONDO:equivalentTo"} @@ -1701,9 +1701,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:98938"} subset: orphanet_rare {source="Orphanet:98938"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "colobomatous microphthalmia" EXACT [MONDO:0010303] +synonym: "colobomatous microphthalmia" EXACT [MONDO:0010303, Orphanet:98938] synonym: "MAC" EXACT ABBREVIATION [Orphanet:98938] -synonym: "MCOPCB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300345] +synonym: "MCOPCB1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microphthalmia associated with colobomatous cyst" RELATED [GARD:0003644] synonym: "microphthalmia with colobomatous cyst" EXACT [Orphanet:98938] synonym: "microphthalmia-anophthalmia-coloboma syndrome" EXACT [Orphanet:98938] @@ -1742,9 +1742,9 @@ synonym: "hydrocephalus, agyria and retinal dysplasia" RELATED [GARD:0002599] synonym: "hydrocephalus-agyria-retinal dysplasia syndrome" EXACT [Orphanet:899] synonym: "Pagon syndrome" RELATED [GARD:0002599] synonym: "Walker-Warburg muscular dystrophy" EXACT [NCIT:C99109] -synonym: "Walker-Warburg syndrome" EXACT [MONDO:0019523] +synonym: "Walker-Warburg syndrome" EXACT [DOID:0050560, MONDO:0019523, NCIT:C99109, Orphanet:899] synonym: "Warburg syndrome" RELATED [GARD:0002599] -synonym: "WWS" EXACT ABBREVIATION [Orphanet:899] +synonym: "WWS" EXACT ABBREVIATION [NCIT:C99109, Orphanet:899] xref: DOID:0050560 {source="MONDO:equivalentTo"} xref: GARD:2599 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:899/attributed", source="Orphanet:899/ntbt", source="Orphanet:899"} @@ -1918,8 +1918,8 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GLUT1 deficiency syndrome" EXACT CLINGEN_LABEL [] -synonym: "GLUT1DS" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165, https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html] +synonym: "GLUT1 deficiency syndrome" EXACT CLINGEN_LABEL [OMIMPS:606777] +synonym: "GLUT1DS" EXACT ABBREVIATION [DOID:0070560, https://orcid.org/0000-0002-6601-2165, https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html] xref: DOID:0070560 {source="MONDO:equivalentTo"} xref: MEDGEN:337833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:1200799 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -1941,8 +1941,8 @@ id: MONDO:0000190 name: ventricular fibrillation def: "A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)" [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "fibrillation, ventricular" EXACT [NCIT:C50799] -synonym: "ventricular fibrillation" EXACT [MONDO:ambiguous] +synonym: "fibrillation, ventricular" EXACT [] +synonym: "ventricular fibrillation" EXACT [icd11.foundation:1662472992, MONDO:ambiguous, NCIT:C50799] synonym: "ventricular fibrillation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "VF" EXACT ABBREVIATION [NCIT:C50799] synonym: "VFib" EXACT [NCIT:C50799] @@ -1992,7 +1992,7 @@ synonym: "CORTRD" EXACT ABBREVIATION [DOID:0090139] synonym: "deficiency of (R)-20-hydroxysteroid dehydrogenase" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "deficiency of cortisone reductase" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "HSD 11B1 deficiency" NARROW [GARD:0009882] -synonym: "hyperandrogenism due to cortisone reductase deficiency" EXACT [] +synonym: "hyperandrogenism due to cortisone reductase deficiency" EXACT [Orphanet:168588] xref: DOID:0090139 {source="MONDO:equivalentTo"} xref: GARD:9882 {source="MONDO:GARD"} xref: ICD10CM:E25.8 {source="Orphanet:168588/attributed", source="Orphanet:168588/ntbt", source="Orphanet:168588"} @@ -2064,10 +2064,10 @@ synonym: "gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome" EXA synonym: "Laband syndrome" EXACT [Orphanet:3473] synonym: "Laband-Zimmermann syndrome" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "Zimmerman Laband syndrome" RELATED [GARD:0000385] -synonym: "Zimmermann-Laband syndrome 1" RELATED [MONDO:Lexical, OMIM:135500] -synonym: "Zimmermann-Laband syndrome type 1" EXACT [MONDORULE:1, OMIM:135500] +synonym: "Zimmermann-Laband syndrome 1" RELATED [MONDO:Lexical] +synonym: "Zimmermann-Laband syndrome type 1" EXACT [MONDORULE:1] synonym: "ZLS" RELATED ABBREVIATION [GARD:0000385] -synonym: "ZLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135500] +synonym: "ZLS1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:385 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3473/attributed", source="Orphanet:3473/ntbt", source="Orphanet:3473"} xref: icd11.foundation:8285962 {source="MONDO:equivalentTo"} @@ -2130,9 +2130,9 @@ name: microcephaly, short stature, and impaired glucose metabolism 1 subset: gard_rare {source="GARD:18459", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "microcephaly, short stature, and impaired glucose metabolism" RELATED [MONDO:Lexical, OMIM:616033] +synonym: "microcephaly, short stature, and impaired glucose metabolism" RELATED [MONDO:Lexical] synonym: "microcephaly, short stature, and impaired glucose metabolism 1" EXACT CLINGEN_LABEL [OMIM:616033] -synonym: "MSSGM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616033] +synonym: "MSSGM" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MSSGM1" EXACT ABBREVIATION [OMIM:616033] xref: GARD:18459 {source="MONDO:GARD"} xref: MEDGEN:863434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -2153,7 +2153,7 @@ subset: orphanet_rare {source="Orphanet:486811"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SMABF" EXACT ABBREVIATION [Orphanet:486811] -synonym: "spinal muscular atrophy with congenital bone fractures" EXACT [] +synonym: "spinal muscular atrophy with congenital bone fractures" EXACT [OMIMPS:616866] xref: GARD:17882 {source="MONDO:GARD"} xref: MEDGEN:1798941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:616866 {source="MONDO:equivalentTo"} @@ -2209,11 +2209,11 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "autosomal recessive hypercalcemia, infantile" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive infantile hypercalcemia" EXACT [MONDO:0007749] +synonym: "autosomal recessive infantile hypercalcemia" EXACT [MONDO:0007749, NCIT:C129734, Orphanet:300547] synonym: "familial infantile hypercalcemia with suppressed intact parathyroid hormone" EXACT [Orphanet:300547] synonym: "hypercalcemia disease of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] -synonym: "hypercalcemia, idiopathic, of infancy" EXACT DEPRECATED [OMIM:143880] -synonym: "hypercalcemia, infantile" EXACT [OMIM:143880] +synonym: "hypercalcemia, idiopathic, of infancy" EXACT DEPRECATED [] +synonym: "hypercalcemia, infantile" EXACT [OMIMPS:143880] synonym: "hypercalcemia, infantile, autosomal recessive" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_recessive] synonym: "idiopathic infantile hypercalcemia" EXACT DEPRECATED [NCIT:C129734] synonym: "infantile hypercalcemia" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -2330,7 +2330,7 @@ name: acquired carbohydrate metabolism disease def: "An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism." [https://orcid.org/0000-0002-6601-2165] comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - subset: obsoletion_candidate -synonym: "carbohydrate metabolism disease" RELATED [DOID:0050013] +synonym: "carbohydrate metabolism disease" RELATED [] xref: DOID:0050013 {source="MONDO:equivalentObsolete"} intersection_of: MONDO:0006504 ! acquired metabolic disease intersection_of: disease_has_basis_in_disruption_of GO:0005975 ! carbohydrate metabolic process @@ -2388,8 +2388,8 @@ name: African tick-bite fever subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Rickettsia africae spotted fever" RELATED [DOID:0050035] -synonym: "South African tick-bite fever" RELATED [DOID:0050035] +synonym: "Rickettsia africae spotted fever" RELATED [] +synonym: "South African tick-bite fever" RELATED [] xref: DOID:0050035 {source="MONDO:equivalentTo"} xref: MEDGEN:728968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:415561000 {source="MONDO:equivalentTo"} @@ -2472,9 +2472,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "fever, Japanese spotted" RELATED [MESH:D000073605] synonym: "fevers, Japanese spotted" RELATED [MESH:D000073605] -synonym: "Japanese spotted fever" EXACT [MESH:D000073605] +synonym: "Japanese spotted fever" EXACT [DOID:0050050, MESH:D000073605] synonym: "Japanese spotted fevers" RELATED [MESH:D000073605] -synonym: "oriental spotted fever" RELATED [DOID:0050050] +synonym: "oriental spotted fever" RELATED [] synonym: "Rickettsia japonica spotted fever" EXACT [DOID:0050050] synonym: "spotted fever, Japanese" RELATED [MESH:D000073605] xref: DOID:0050050 {source="MONDO:equivalentTo"} @@ -2493,7 +2493,7 @@ name: Rickettsia parkeri spotted fever def: "A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash." [DOID:0050051, http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri, http://www.cdc.gov/otherspottedfever/index.html] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "maculatum infection" RELATED [DOID:0050051] +synonym: "maculatum infection" RELATED [] xref: DOID:0050051 {source="MONDO:equivalentTo"} is_a: MONDO:0001195 {source="DOID:0050051", source="MONDO:Redundant"} ! spotted fever intersection_of: MONDO:0001195 ! spotted fever @@ -2545,7 +2545,7 @@ is_obsolete: true id: MONDO:0000239 name: adiaspiromycosis def: "Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens)." [https://doi.org/10.1016/j.rmedc.2011.04.004] -synonym: "adiaspiromycosis" EXACT [https://orcid.org/0000-0002-6601-2165] +synonym: "adiaspiromycosis" EXACT [DOID:0050072, https://orcid.org/0000-0002-6601-2165] synonym: "adiaspirosis" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "haplosporangiosis" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pulmonary adiaspiromycosis" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -2693,7 +2693,7 @@ is_a: MONDO:0001673 {source="DOID:0050129", source="HP:0005208"} ! diarrheal dis id: MONDO:0000250 name: osmotic diarrheal disease def: "A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption." [https://www.ncbi.nlm.nih.gov/books/NBK414/] -synonym: "osmotic diarrhea" EXACT [] +synonym: "osmotic diarrhea" EXACT [DOID:0050130] synonym: "osmotic diarrhoea" EXACT OMO:0003005 [] synonym: "permeability diarrhea" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "permeability diarrhoea" EXACT OMO:0003005 [] @@ -2746,7 +2746,7 @@ synonym: "piedra, White" NARROW [MESH:D010854] synonym: "Piedras" RELATED [MESH:D010854] synonym: "Piedras, black" NARROW [MESH:D010854] synonym: "Piedras, White" NARROW [MESH:D010854] -synonym: "steroid-modified tinea infection" NARROW [DOID:0050133] +synonym: "steroid-modified tinea infection" NARROW [] synonym: "White piedra" NARROW [MESH:D010854] synonym: "White Piedras" NARROW [MESH:D010854] xref: MEDGEN:45923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -2775,7 +2775,7 @@ relationship: has_characteristic MONDO:0045042 ! restricted to specific location id: MONDO:0000255 name: subcutaneous mycosis def: "A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis." [https://www.ncbi.nlm.nih.gov/books/NBK7902] -synonym: "subcutaneous mycosis" EXACT [] +synonym: "subcutaneous mycosis" EXACT [DOID:0050135] xref: DOID:0050135 {source="MONDO:equivalentTo"} xref: ICD10CM:L00-L08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MEDGEN:1684692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -2843,7 +2843,7 @@ replaced_by: MONDO:0016575 id: MONDO:0000261 name: adenoiditis def: "An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil." [MONDO:patterns/inflammatory_disease_by_site] -synonym: "chronic adenoiditis" NARROW [DOID:0050145] +synonym: "chronic adenoiditis" NARROW [] synonym: "inflammation of pharyngeal tonsil" EXACT [] synonym: "pharyngeal tonsil inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "pharyngeal tonsilitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] @@ -2864,7 +2864,7 @@ name: otomycosis def: "Fungus infection of the external ear, usually by aspergillus species" [MESH:D059249] synonym: "external ear fungal infectious disease" EXACT [MONDO:patterns/location] synonym: "otitis mycotic externa" RELATED [https://orcid.org/0000-0002-6601-2165] -synonym: "Singapore ear" RELATED [DOID:0050147] +synonym: "Singapore ear" RELATED [] xref: DOID:0050147 {source="MONDO:equivalentTo"} xref: icd11.foundation:107388709 {source="MONDO:equivalentTo"} xref: ICD9:111.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -2918,7 +2918,7 @@ name: aspiration pneumonia def: "A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract." [MESH:D011015] synonym: "acid aspiration syndrome" EXACT [MESH:D011015] synonym: "acid aspiration syndromes" EXACT [MESH:D011015] -synonym: "aspiration pneumonia" EXACT [MESH:D011015, MONDO:ambiguous] +synonym: "aspiration pneumonia" EXACT [DOID:0050152, MESH:D011015, MONDO:ambiguous] synonym: "aspiration pneumonia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "aspiration Pneumonias" EXACT [MESH:D011015] synonym: "gastric acid aspiration syndrome" EXACT [MESH:D011015] @@ -2986,7 +2986,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of lower respiratory tract" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of lower respiratory tract" EXACT [] synonym: "disorder of lower respiratory tract" EXACT [MONDO:patterns/location_top] -synonym: "lower respiratory tract disease" EXACT [MONDO:patterns/location] +synonym: "lower respiratory tract disease" EXACT [DOID:0050161, MONDO:patterns/location] synonym: "lower respiratory tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:0050161 {source="MONDO:equivalentTo"} xref: EFO:0009433 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -3129,7 +3129,7 @@ relationship: transmitted_by NCBITaxon:42408 ! Neotoma albigula [Term] id: MONDO:0000283 name: Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type -synonym: "Korean hemorrhagic fever" RELATED [DOID:0050200] +synonym: "Korean hemorrhagic fever" RELATED [] xref: DOID:0050200 {source="MONDO:equivalentTo"} is_a: MONDO:0005784 {source="DOID:0050200", source="MONDO:Redundant"} ! hantavirus hemorrhagic fever with renal syndrome intersection_of: MONDO:0005784 ! hantavirus hemorrhagic fever with renal syndrome @@ -3140,7 +3140,7 @@ relationship: transmitted_by NCBITaxon:39030 ! Apodemus agrarius [Term] id: MONDO:0000284 name: Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type -synonym: "nephropathia epidemica" RELATED [DOID:0050201] +synonym: "nephropathia epidemica" RELATED [] synonym: "nephropathis epidemica" EXACT [Wikipedia:Hantavirus_hemorrhagic_fever_with_renal_syndrome] xref: DOID:0050201 {source="MONDO:equivalentTo"} xref: MEDGEN:69308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -3224,9 +3224,9 @@ def: "Granulomatous amebic encephalitis is a life-threatening infection of the b subset: gard_rare {source="GARD:12651", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Acanthamoeba encephalitis" RELATED [DOID:0050246] -synonym: "Acanthamoeba granulomatous encephalitis" RELATED [DOID:0050246] -synonym: "granulomatous amebic encephalitis due to Acanthamoeba" RELATED [DOID:0050246] +synonym: "Acanthamoeba encephalitis" RELATED [] +synonym: "Acanthamoeba granulomatous encephalitis" RELATED [] +synonym: "granulomatous amebic encephalitis due to Acanthamoeba" RELATED [] synonym: "granulomatous amoebic encephalitis" EXACT [DOID:0050246] xref: DOID:0050246 {source="MONDO:equivalentTo"} xref: GARD:12651 {source="MONDO:GARD"} @@ -3256,8 +3256,8 @@ id: MONDO:0000293 name: coenurosis def: "A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs." [Wikipedia:Coenurosis] synonym: "caenurosis" EXACT [Wikipedia:Coenurosis] -synonym: "coenuriasis" EXACT [] -synonym: "coenurosis" EXACT [] +synonym: "coenuriasis" EXACT [icd11.foundation:1545561495] +synonym: "coenurosis" EXACT [DOID:0050251, icd11.foundation:1545561495] synonym: "infection by larvae of multiceps" RELATED [] synonym: "infection by tapeworm larva" RELATED [] synonym: "sturdy" RELATED [Wikipedia:Coenurosis] @@ -3356,12 +3356,12 @@ id: MONDO:0000299 name: thelaziasis def: "A disease caused by infection with Thelazia." [MONDO:patterns/infectious_disease_by_agent] synonym: "conjunctival spirurosis" RELATED [] -synonym: "infection by Thelazia" EXACT [] +synonym: "infection by Thelazia" EXACT [icd11.foundation:1803398353] synonym: "infection caused by Thelazia" RELATED [] synonym: "Thelazia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Thelazia disease or disorder" EXACT [] synonym: "Thelazia infectious disease" EXACT [] -synonym: "thelaziasis" EXACT [] +synonym: "thelaziasis" EXACT [DOID:0050261, icd11.foundation:1803398353] synonym: "thelaziosis" RELATED [] synonym: "verminous ophthalmia" RELATED [] xref: DOID:0050261 {source="MONDO:equivalentTo"} @@ -3389,7 +3389,7 @@ subset: rare synonym: "Oestrus ovis caused myiasis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Oestrus ovis myiasis" EXACT [] synonym: "ophthalmic myiasis" EXACT [] -synonym: "ophthalmomyiasis" EXACT [] +synonym: "ophthalmomyiasis" EXACT [DOID:0050268] xref: DOID:0050268 {source="MONDO:equivalentTo"} xref: MEDGEN:507965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:48216006 {source="MONDO:equivalentTo"} @@ -3405,7 +3405,7 @@ def: "A disease caused by infection with Basidiobolus." [MONDO:patterns/infectio subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "basidiobolomycosis" EXACT [UMLS:C0343965] +synonym: "basidiobolomycosis" EXACT [DOID:0050278, icd11.foundation:2087283296, UMLS:C0343965] synonym: "Basidiobolus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Basidiobolus disease or disorder" EXACT [] synonym: "Basidiobolus infectious disease" EXACT [] @@ -3556,7 +3556,7 @@ replaced_by: MONDO:0023069 id: MONDO:0000313 name: hypophosphatemia def: "Lower than normal levels of phosphates in the circulating blood." [NCIT:C37977] -synonym: "hypophosphatemia" EXACT [MONDO:ambiguous] +synonym: "hypophosphatemia" EXACT [DOID:0050336, MONDO:ambiguous, NCIT:C37977] synonym: "hypophosphatemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050336 {source="MONDO:equivalentTo"} xref: HP:0002148 {source="MONDO:otherHierarchy"} @@ -3702,7 +3702,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:1809 ! Mycobacterium ulc id: MONDO:0000328 name: hyperphosphatemia def: "Abnormally high level of phosphate in the blood." [NCIT:P378] -synonym: "hyperphosphatemia" EXACT [MONDO:ambiguous] +synonym: "hyperphosphatemia" EXACT [DOID:0050459, icd11.foundation:1745515193, MONDO:ambiguous] synonym: "hyperphosphatemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050459 {source="MONDO:equivalentTo"} xref: HP:0002905 {source="MONDO:otherHierarchy"} @@ -3734,14 +3734,14 @@ subset: orphanet_rare {source="Orphanet:83315"} subset: rare synonym: "cat flea rickettsiosis" EXACT [DOID:0050481] synonym: "endemic flea-borne typhus" EXACT [NCIT:C84688] -synonym: "endemic typhus fever" EXACT [NCIT:C84688] +synonym: "endemic typhus fever" EXACT [icd11.foundation:4659958, NCIT:C84688] synonym: "fleaborne typhus" EXACT [DOID:0050481] -synonym: "murine typhus" EXACT [DOID:0050481, Wikipedia:Murine_typhus] +synonym: "murine typhus" EXACT [DOID:0050481, icd11.foundation:4659958, Orphanet:83315, Wikipedia:Murine_typhus] synonym: "rat-flea typhus" EXACT [DOID:0050481] synonym: "Rickettsia felis spotted fever" EXACT [DOID:0050481] synonym: "shop typhus" RELATED [DOID:0050481] synonym: "toulon typhus" EXACT [DOID:0050481] -synonym: "urban typhus" EXACT [DOID:0050481] +synonym: "urban typhus" EXACT [DOID:0050481, icd11.foundation:4659958] synonym: "urban typhus of Malaya" EXACT [DOID:0050481] xref: DOID:0050481 {source="MONDO:equivalentTo"} xref: GARD:19033 {source="MONDO:GARD"} @@ -3787,8 +3787,8 @@ synonym: "Human Ehrlichial infection, sennetsu type" RELATED [GARD:0000120, MESH synonym: "Neorickettsia sennetsu caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Neorickettsia sennetsu disease or disorder" EXACT [] synonym: "Neorickettsia sennetsu infectious disease" EXACT [] -synonym: "sennetsu ehrlichiosis" RELATED [DOID:0050485, Wikipedia:Neorickettsia_sennetsu] -synonym: "sennetsu fever" EXACT [https://wwwnc.cdc.gov/travel/yellowbook/2018/infectious-diseases-related-to-travel/rickettsial-spotted-and-typhus-fevers-and-related-infections-including-anaplasmosis-and-ehrlichiosis] +synonym: "sennetsu ehrlichiosis" RELATED [Wikipedia:Neorickettsia_sennetsu] +synonym: "sennetsu fever" EXACT [DOID:0050485, https://wwwnc.cdc.gov/travel/yellowbook/2018/infectious-diseases-related-to-travel/rickettsial-spotted-and-typhus-fevers-and-related-infections-including-anaplasmosis-and-ehrlichiosis] xref: DOID:0050485 {source="MONDO:equivalentTo"} xref: GARD:120 {source="MONDO:GARD"} xref: ICD9:088.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -3881,7 +3881,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "exanthem subitum" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK448190/, NCIT:C128420] synonym: "pseudorubella" RELATED [] synonym: "roseola" EXACT [NCIT:C128420] -synonym: "roseola Infantum" EXACT [DOID:0050495, https://www.ncbi.nlm.nih.gov/books/NBK448190/] +synonym: "roseola Infantum" EXACT [DOID:0050495, https://www.ncbi.nlm.nih.gov/books/NBK448190/, NCIT:C128420] synonym: "sixth disease" EXACT [DOID:0050495, https://www.ncbi.nlm.nih.gov/books/NBK448190/] xref: DOID:0050495 {source="MONDO:equivalentTo"} xref: EFO:1001320 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -4028,7 +4028,7 @@ relationship: transmitted_by NCBITaxon:41820 ! Culicoides [Term] id: MONDO:0000346 name: Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type -synonym: "Balkan hemorrhagic fever" EXACT [Wikipedia:Hantavirus_hemorrhagic_fever_with_renal_syndrome] +synonym: "Balkan hemorrhagic fever" EXACT [DOID:0050522, Wikipedia:Hantavirus_hemorrhagic_fever_with_renal_syndrome] xref: DOID:0050522 {source="MONDO:equivalentTo"} is_a: MONDO:0005784 {source="DOID:0050522", source="MONDO:Entailed", source="MONDO:Redundant"} ! hantavirus hemorrhagic fever with renal syndrome intersection_of: MONDO:0005784 ! hantavirus hemorrhagic fever with renal syndrome @@ -4044,7 +4044,7 @@ replaced_by: MONDO:0019471 [Term] id: MONDO:0000348 name: obsolete posterior polar cataract -synonym: "cataract, posterior polar" EXACT [DOID:0050537] +synonym: "cataract, posterior polar" EXACT [] synonym: "obsolete posterior polar cataract (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050537 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000589 "obsolete posterior polar cataract (disease)" xsd:string @@ -4070,7 +4070,7 @@ def: "An inherited metabolic disease that is has its basis in the disruption of subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypermethioninemia" EXACT [MONDO:ambiguous] +synonym: "hypermethioninemia" EXACT [DOID:0050544, MONDO:ambiguous] synonym: "inborn error of methionine catabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn methionine catabolic process disorder" EXACT [] synonym: "rare inborn error of methionine catabolic process" EXACT [MONDO:patterns/inborn_metabolic] @@ -4114,13 +4114,13 @@ subset: ordo_disorder {source="Orphanet:75840"} subset: orphanet_rare {source="Orphanet:75840"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital muscular dystrophy, Ullrich type" RELATED [Orphanet:75840] +synonym: "congenital muscular dystrophy, Ullrich type" RELATED [] synonym: "late onset scleroatonic familial myopathy (subtype)" RELATED [GARD:0004769] -synonym: "scleroatonic muscular dystrophy" EXACT [Orphanet:75840] +synonym: "scleroatonic muscular dystrophy" EXACT [] synonym: "scleroatonic Ullrich disease" EXACT [NCIT:C123438] -synonym: "UCMD" EXACT ABBREVIATION [GARD:0004769, Orphanet:75840] -synonym: "Ullrich disease" RELATED [DOID:0050558, https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/] -synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [DOID:0050558] +synonym: "UCMD" EXACT ABBREVIATION [GARD:0004769, NCIT:C123438, Orphanet:75840] +synonym: "Ullrich disease" RELATED [https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410179/] +synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [DOID:0050558, Orphanet:75840] xref: DOID:0050558 {source="MONDO:equivalentTo"} xref: GARD:4769 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:75840/attributed", source="Orphanet:75840/ntbt", source="Orphanet:75840"} @@ -4176,15 +4176,15 @@ subset: gard_rare {source="GARD:12174", source="MONDO:GARD"} subset: nord_rare {source="NORD:1308", source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "costovertebral dysplasia" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] -synonym: "Jarcho-Levin syndrome" RELATED DEPRECATED [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] +synonym: "costovertebral dysplasia" EXACT [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] +synonym: "Jarcho-Levin syndrome" RELATED DEPRECATED [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] synonym: "SCD" RELATED ABBREVIATION [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] synonym: "SCDO" RELATED ABBREVIATION [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] -synonym: "spondylocostal dysostosis" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] +synonym: "spondylocostal dysostosis" EXACT [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/, NCIT:C125598, OMIMPS:277300] synonym: "Spondylocostal Dysplasia" EXACT [NORD:1308] synonym: "spondylocostal dysplasia" EXACT [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] -synonym: "spondylothoracic dysostosis" RELATED EXCLUDE [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] -synonym: "spondylothoracic dysplasia" RELATED EXCLUDE [DOID:0050568, https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] +synonym: "spondylothoracic dysostosis" RELATED EXCLUDE [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] +synonym: "spondylothoracic dysplasia" RELATED EXCLUDE [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/] xref: DOID:0050568 {source="MONDO:equivalentTo"} xref: GARD:12174 {source="MONDO:GARD"} xref: MEDGEN:82707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -4242,7 +4242,7 @@ def: "Primary congenital glaucoma (PCG) is characterized by elevated intraocular subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "primary congenital glaucoma" EXACT [MONDO:ambiguous] +synonym: "primary congenital glaucoma" EXACT [DOID:0050593, icd11.foundation:517092878, MONDO:ambiguous, NCIT:C150251] synonym: "primary congenital glaucoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050593 {source="MONDO:equivalentTo"} xref: HP:0008007 {source="MONDO:otherHierarchy"} @@ -4334,7 +4334,7 @@ name: oral cavity carcinoma in situ alt_id: MONDO:0021286 def: "A in situ carcinoma that involves the oral cavity." [MONDO:patterns/location] synonym: "carcinoma in situ of mouth" EXACT [NCIT:C4587] -synonym: "carcinoma in situ of oral cavity" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of oral cavity" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4587] synonym: "carcinoma in situ of the mouth" EXACT [NCIT:C4587] synonym: "carcinoma in situ of the oral cavity" EXACT [NCIT:C4587] synonym: "mouth carcinoma in situ" EXACT [NCIT:C4587] @@ -4348,7 +4348,7 @@ synonym: "stage 0 oral cavity cancer" EXACT [NCIT:C4587] synonym: "stage 0 oral cavity cancer aJCC v6" EXACT [NCIT:C4587] synonym: "stage 0 oral cavity cancer aJCC v6 and v7" EXACT [NCIT:C4587] synonym: "stage 0 oral cavity cancer aJCC v7" EXACT [NCIT:C4587] -synonym: "stage 0 oral cavity carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "stage 0 oral cavity carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4587] xref: DOID:0050610 {source="MONDO:equivalentTo"} xref: MEDGEN:138076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4587 {source="MONDO:equivalentTo"} @@ -4367,7 +4367,7 @@ synonym: "carcinoma in situ of pharynx" EXACT [MONDO:patterns/carcinoma_in_situ, synonym: "carcinoma in situ of the pharynx" EXACT [NCIT:C4942] synonym: "pharyngeal cancer stage 0" EXACT [NCIT:C4942] synonym: "pharyngeal carcinoma in situ" EXACT [NCIT:C4942] -synonym: "pharynx carcinoma in situ" EXACT [NCIT:C4942] +synonym: "pharynx carcinoma in situ" EXACT [DOID:0050611, NCIT:C4942] synonym: "pharynx in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 carcinoma of pharynx" EXACT [NCIT:C4942] synonym: "stage 0 carcinoma of the pharynx" EXACT [NCIT:C4942] @@ -4438,7 +4438,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "cancer of respiratory system" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of respiratory system" EXACT [MONDO:patterns/cancer] synonym: "malignant respiratory system neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "respiratory system cancer" EXACT [MONDO:patterns/location] +synonym: "respiratory system cancer" EXACT [DOID:0050615, MONDO:patterns/location] xref: DOID:0050615 {source="MONDO:equivalentTo"} xref: ICD9:165.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:165.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -4458,9 +4458,9 @@ synonym: "cancer of Leydig cell" EXACT [MONDO:patterns/cancer] synonym: "Leydig cell cancer" EXACT [MONDO:patterns/location] synonym: "Leydig cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4213] synonym: "malignant interstitial cell neoplasm" EXACT [NCIT:C4213] -synonym: "malignant interstitial cell tumor" RELATED [DOID:0050616] +synonym: "malignant interstitial cell tumor" RELATED [] synonym: "malignant interstitial cell tumour" RELATED OMO:0003005 [] -synonym: "malignant Leydig cell neoplasm" EXACT [DOID:0050616, MONDO:patterns/cancer, NCIT:C4213] +synonym: "malignant Leydig cell neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4213] synonym: "malignant neoplasm of Leydig cell" EXACT [MONDO:patterns/cancer] xref: DOID:0050616 {source="MONDO:equivalentObsolete"} xref: ICDO:8650/3 {source="NCIT:C4213"} @@ -4516,23 +4516,23 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "accessory sinus cancer" EXACT [NCIT:C6014] synonym: "accessory sinus carcinoma" EXACT [NCIT:C6014] -synonym: "adenoid cystic carcinoma of accessory sinus" RELATED [DOID:0050619] +synonym: "adenoid cystic carcinoma of accessory sinus" RELATED [] synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED [DOID:0050619] synonym: "cancer of paranasal sinus" EXACT [MONDO:patterns/cancer] synonym: "carcinoma of accessory sinus" EXACT [NCIT:C6014] synonym: "carcinoma of paranasal sinus" EXACT [MONDO:patterns/carcinoma, NCIT:C6014] synonym: "carcinoma of the accessory sinus" EXACT [NCIT:C6014] synonym: "carcinoma of the paranasal sinus" EXACT [NCIT:C6014] -synonym: "epidermoid carcinoma of the paranasal sinus" RELATED [DOID:0050619] +synonym: "epidermoid carcinoma of the paranasal sinus" RELATED [] synonym: "malignant neoplasm of paranasal sinus" BROAD [MONDO:patterns/cancer] synonym: "malignant paranasal sinus neoplasm" BROAD [MONDO:patterns/cancer] -synonym: "mucoepidermoid carcinoma of accessory sinus" RELATED [DOID:0050619] -synonym: "paranasal sinus adenocarcinoma" RELATED [DOID:0050619] -synonym: "paranasal sinus adenoid cystic carcinoma" RELATED [DOID:0050619] -synonym: "paranasal sinus cancer" BROAD [MONDO:patterns/location, NCIT:C6014] +synonym: "mucoepidermoid carcinoma of accessory sinus" RELATED [] +synonym: "paranasal sinus adenocarcinoma" RELATED [] +synonym: "paranasal sinus adenoid cystic carcinoma" RELATED [] +synonym: "paranasal sinus cancer" BROAD [MONDO:patterns/location] synonym: "paranasal sinus carcinoma" EXACT [NCIT:C6014] -synonym: "paranasal sinus mucoepidermoid carcinoma" RELATED [DOID:0050619] -synonym: "paranasal sinus squamous cell carcinoma" RELATED [DOID:0050619] +synonym: "paranasal sinus mucoepidermoid carcinoma" RELATED [] +synonym: "paranasal sinus squamous cell carcinoma" RELATED [] synonym: "squamous cell carcinoma of paranasal sinus" RELATED [DOID:0050619] xref: DOID:0050619 {source="MONDO:equivalentTo"} xref: MEDGEN:167751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -4564,7 +4564,7 @@ intersection_of: disease_has_location UBERON:0001224 ! renal pelvis id: MONDO:0000382 name: respiratory system benign neoplasm def: "A benign neoplasm that involves the respiratory system." [MONDO:patterns/location] -synonym: "respiratory system benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "respiratory system benign neoplasm" EXACT [DOID:0050621, MONDO:patterns/location] xref: DOID:0050621 {source="MONDO:equivalentTo"} xref: MEDGEN:635669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:255166003 {source="MONDO:equivalentTo"} @@ -4579,7 +4579,7 @@ id: MONDO:0000383 name: benign reproductive system neoplasm def: "A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor." [NCIT:C7617] synonym: "benign reproductive system neoplasm" EXACT [NCIT:C7617] -synonym: "reproductive organ benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "reproductive organ benign neoplasm" EXACT [DOID:0050622, MONDO:patterns/location] xref: DOID:0050622 {source="MONDO:equivalentTo"} xref: MEDGEN:234034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7617 {source="MONDO:equivalentTo"} @@ -4596,7 +4596,7 @@ def: "A benign abnormal growth of the cells that comprise the bladder." [NCIT:P3 synonym: "benign bladder neoplasm" EXACT [NCIT:C3618] synonym: "benign bladder tumor" EXACT [NCIT:C3618] synonym: "benign bladder tumour" EXACT OMO:0003005 [] -synonym: "benign neoplasm of bladder" EXACT [NCIT:C3618] +synonym: "benign neoplasm of bladder" EXACT [ICD10CM:D30.3, NCIT:C3618] synonym: "benign neoplasm of the bladder" EXACT [NCIT:C3618] synonym: "benign neoplasm of the urinary bladder" EXACT [NCIT:C3618] synonym: "benign neoplasm of urinary bladder" EXACT [NCIT:C3618] @@ -4659,7 +4659,7 @@ synonym: "benign tumour of GI system" EXACT OMO:0003005 [] synonym: "benign tumour of the digestive system" EXACT OMO:0003005 [] synonym: "benign tumour of the gastrointestinal system" EXACT OMO:0003005 [] synonym: "benign tumour of the GI system" EXACT OMO:0003005 [] -synonym: "gastrointestinal system benign neoplasm" RELATED [DOID:0050624] +synonym: "gastrointestinal system benign neoplasm" RELATED [] xref: DOID:0050624 {source="MONDO:equivalentTo"} xref: MEDGEN:141680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4787 {source="MONDO:equivalentTo"} @@ -4679,23 +4679,23 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alimentary part of gastrointestinal system neuroendocrine tumor" BROAD [MONDO:patterns/location] synonym: "alimentary part of gastrointestinal system neuroendocrine tumour" BROAD OMO:0003005 [] -synonym: "digestive system NET" BROAD [NCIT:C95404] -synonym: "digestive system neuroendocrine tumor" BROAD [NCIT:C95404] +synonym: "digestive system NET" BROAD [] +synonym: "digestive system neuroendocrine tumor" BROAD [] synonym: "digestive system neuroendocrine tumour" BROAD OMO:0003005 [] -synonym: "digestive system well differentiated neuroendocrine tumor" BROAD [NCIT:C95404] +synonym: "digestive system well differentiated neuroendocrine tumor" BROAD [] synonym: "digestive system well differentiated neuroendocrine tumour" BROAD OMO:0003005 [] -synonym: "gastroenteropancreatic NET" BROAD [NCIT:C95404] -synonym: "gastroenteropancreatic neuroendocrine tumor" BROAD [NCIT:C95404] +synonym: "gastroenteropancreatic NET" BROAD [] +synonym: "gastroenteropancreatic neuroendocrine tumor" BROAD [] synonym: "gastroenteropancreatic neuroendocrine tumour" BROAD OMO:0003005 [] -synonym: "gastrointestinal NET" BROAD [NCIT:C95404] -synonym: "gastrointestinal neuroendocrine tumor" BROAD [NCIT:C95404] +synonym: "gastrointestinal NET" BROAD [] +synonym: "gastrointestinal neuroendocrine tumor" BROAD [] synonym: "gastrointestinal neuroendocrine tumors" BROAD [ONCOTREE:GINET] synonym: "gastrointestinal neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "gastrointestinal neuroendocrine tumours" BROAD OMO:0003005 [] -synonym: "gastrointestinal system neuroendocrine tumor" BROAD [NCIT:C95404] +synonym: "gastrointestinal system neuroendocrine tumor" BROAD [] synonym: "gastrointestinal system neuroendocrine tumour" BROAD OMO:0003005 [] synonym: "GINET" RELATED ABBREVIATION [ONCOTREE:GINET] -synonym: "malignant gastrointestinal neuroendocrine tumor" NARROW [DOID:0050626] +synonym: "malignant gastrointestinal neuroendocrine tumor" NARROW [] synonym: "malignant gastrointestinal neuroendocrine tumour" NARROW OMO:0003005 [] xref: DOID:0050626 {source="MONDO:equivalentTo"} xref: MEDGEN:443945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -4716,7 +4716,7 @@ name: hypochromic microcytic anemia def: "Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic)." [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/books/NBK470252/] subset: otar {source="MONDO:OTAR"} synonym: "hypochromic microcytic anaemia (disease)" EXACT OMO:0003005 [] -synonym: "hypochromic microcytic anemia" EXACT [MONDO:ambiguous] +synonym: "hypochromic microcytic anemia" EXACT [DOID:0050642, MONDO:ambiguous] synonym: "hypochromic microcytic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050642 {source="MONDO:equivalentTo"} xref: HP:0004840 {source="MONDO:otherHierarchy"} @@ -4734,7 +4734,7 @@ property_value: IAO:0000589 "hypochromic microcytic anemia (disease)" xsd:string [Term] id: MONDO:0000388 name: obsolete anonychia congenita -synonym: "hyponychia congenita" EXACT [DOID:0050643] +synonym: "hyponychia congenita" EXACT [] is_obsolete: true consider: MONDO:0008798 @@ -4758,7 +4758,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "macular dystrophy, vitelliform" EXACT [OMIMPS:153840] -synonym: "vitelliform macular dystrophy" EXACT [NCIT:C118788] +synonym: "vitelliform macular dystrophy" EXACT [DOID:0050661, NCIT:C118788] xref: DOID:0050661 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="DOID:0050661", source="MONDO:relatedTo"} xref: MEDGEN:137920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -4838,7 +4838,7 @@ relationship: disease_has_feature HP:0001276 ! Hypertonia id: MONDO:0000397 name: ataxic cerebral palsy def: "A form of cerebral palsy caused by damage to cerebellar structures." [Wikipedia:Ataxic_cerebral_palsy] -synonym: "hypotonic cerebral palsy" RELATED EXCLUDE [DOID:0050670] +synonym: "hypotonic cerebral palsy" RELATED EXCLUDE [] xref: DOID:0050670 {source="MONDO:equivalentTo"} xref: icd11.foundation:1134558601 {source="MONDO:equivalentTo"} xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -4887,16 +4887,16 @@ def: "A neuroendocrine carcinoma composed of small malignant cells which are oft subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intermediate cell small cell carcinoma" RELATED [DOID:0050685] +synonym: "intermediate cell small cell carcinoma" RELATED [] synonym: "oat cell cancer" EXACT [NCIT:C3915] synonym: "oat cell carcinoma" EXACT [NCIT:C3915] synonym: "small cell cancer" EXACT [NCIT:C3915] -synonym: "small cell car. (extrapulmonary)" EXACT [NCIT:C3915] -synonym: "small cell carcinoma" EXACT [NCIT:C3915] -synonym: "small cell carcinoma (extrapulmonary)" EXACT [NCIT:C3915] -synonym: "small cell carcinoma - intermediate cell" RELATED [DOID:0050685] -synonym: "small cell carcinoma, intermediate cell" RELATED [DOID:0050685] -synonym: "small cell carcinoma, intermediate cell (morphologic abnormality)" RELATED [DOID:0050685] +synonym: "small cell car. (extrapulmonary)" EXACT [] +synonym: "small cell carcinoma" EXACT [DOID:0050685, NCIT:C3915] +synonym: "small cell carcinoma (extrapulmonary)" EXACT [] +synonym: "small cell carcinoma - intermediate cell" RELATED [] +synonym: "small cell carcinoma, intermediate cell" RELATED [] +synonym: "small cell carcinoma, intermediate cell (morphologic abnormality)" RELATED [] synonym: "small cell NEC" EXACT [NCIT:C3915] synonym: "small cell neuroendocrine carcinoma" EXACT [NCIT:C3915] xref: DOID:0050685 {source="MONDO:equivalentTo"} @@ -4929,7 +4929,7 @@ replaced_by: MONDO:0004992 id: MONDO:0000405 name: anal canal cancer def: "A malignant neoplasm involving the anal canal" [https://orcid.org/0000-0002-6601-2165] -synonym: "anal canal cancer" EXACT [MONDO:patterns/location] +synonym: "anal canal cancer" EXACT [DOID:0050688, MONDO:patterns/location] synonym: "cancer of anal canal" EXACT [MONDO:patterns/cancer] synonym: "malignant anal canal neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of anal canal" EXACT [MONDO:patterns/cancer] @@ -5168,7 +5168,7 @@ synonym: "X-linked genetic diseases" RELATED [MESH:D040181] synonym: "X-linked hereditary disease" EXACT [] synonym: "X-linked hereditary disorder" EXACT [] synonym: "X-linked inherited disease" EXACT [] -synonym: "X-linked inherited disorder" EXACT [] +synonym: "X-linked inherited disorder" EXACT [NCIT:C85865] xref: DOID:0050735 {source="MONDO:equivalentTo"} xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:222910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -5256,14 +5256,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mature T-and NK-cell lymphoma" EXACT [NCIT:C3468] -synonym: "mature T-cell and natural killer cell lymphoma" RELATED [DOID:0050743] -synonym: "mature T-cell and NK-cell lymphoma" EXACT [NCIT:C3468] +synonym: "mature T-cell and natural killer cell lymphoma" RELATED [] +synonym: "mature T-cell and NK-cell lymphoma" EXACT [DOID:0050743, NCIT:C3468] synonym: "mature T-cell and NK-cell non-Hodgkin lymphoma" EXACT [NCIT:C3468] synonym: "mature T-cell and NK-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3468] -synonym: "mature T-cell lymphoma" EXACT [NCIT:C3468] +synonym: "mature T-cell lymphoma" EXACT [] synonym: "mature T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3468] -synonym: "NK-T cell lymphoma" RELATED [DOID:0050743] -synonym: "peripheral T-cell lymphoma" EXACT [MONDO:0000434, NCIT:C3468] +synonym: "NK-T cell lymphoma" RELATED [] +synonym: "peripheral T-cell lymphoma" EXACT [DOID:0050749, MONDO:0000434, NCIT:C3468] synonym: "PTCL" EXACT ABBREVIATION [NCIT:C3468] xref: DOID:0050743 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0050749 {source="MONDO:equivalentTo"} @@ -5299,8 +5299,8 @@ subset: rare synonym: "Immunocytoma, lymphoplasmacytic type" EXACT [NCIT:C3212] synonym: "lymphoma, lymphoplasmacytic, malignant" EXACT [NCIT:C3212] synonym: "lymphoma, plasmacytic" EXACT [NCIT:C3212] -synonym: "lymphoplasmacytic lymphoma" EXACT [NCIT:C3212] -synonym: "lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)" EXACT [NCIT:C3212] +synonym: "lymphoplasmacytic lymphoma" EXACT [icd11.foundation:2058944823, NCIT:C3212] +synonym: "lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)" EXACT [] synonym: "lymphoplasmacytoid lymphoma" EXACT [NCIT:C3212] xref: DOID:0050747 {source="MONDO:equivalentObsolete"} xref: ICD10CM:C88.0 {source="DOID:0050747"} @@ -5371,7 +5371,7 @@ synonym: "ataxias, cerebellar" RELATED [MESH:D002524] synonym: "cerebellar Ataxias" RELATED [MESH:D002524] synonym: "cerebellar dysmetria" RELATED [MESH:D002524] synonym: "cerebellar Dysmetrias" RELATED [MESH:D002524] -synonym: "rare ataxia" RELATED [Orphanet:102002] +synonym: "rare ataxia" RELATED [] synonym: "spinocerebellar ataxia" NARROW [] synonym: "spinocerebellar Degeneration" EXACT [NCIT:C82341] xref: DOID:0050753 {source="MONDO:equivalentTo"} @@ -5466,13 +5466,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AD polycystic liver disease" EXACT [https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/] synonym: "ADPLD" EXACT ABBREVIATION [https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/] -synonym: "congenital cystic liver disease" RELATED [DOID:0050770] -synonym: "congenital hepatic cyst" RELATED [DOID:0050770] -synonym: "fibrocystic liver disease" RELATED [DOID:0050770] -synonym: "isolated congenital polycystic liver disease" EXACT [Orphanet:2924] +synonym: "congenital cystic liver disease" RELATED [] +synonym: "congenital hepatic cyst" RELATED [] +synonym: "fibrocystic liver disease" RELATED [] +synonym: "isolated congenital polycystic liver disease" EXACT [] synonym: "isolated polycystic liver disease" EXACT [Orphanet:2924] -synonym: "PCLD" EXACT ABBREVIATION [GARD:0009457] -synonym: "polycystic liver disease" EXACT [MONDO:ambiguous] +synonym: "PCLD" EXACT ABBREVIATION [GARD:0009457, Orphanet:2924] +synonym: "polycystic liver disease" EXACT [DOID:0050770, icd11.foundation:1361740083, MONDO:ambiguous, NCIT:C82833, OMIMPS:174050] xref: DOID:0050770 {source="MONDO:equivalentTo"} xref: GARD:9457 {source="MONDO:GARD"} xref: HP:0006557 {source="MONDO:otherHierarchy"} @@ -5504,11 +5504,11 @@ def: "A benign or malignant neoplasm arising from paraganglia located along the subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chemodectoma" NARROW [DOID:0050773] +synonym: "chemodectoma" NARROW [] synonym: "neoplasm of paraganglion" EXACT [NCIT:C3308] synonym: "neoplasm of the paraganglion" EXACT [NCIT:C3308] -synonym: "paraganglioma" EXACT CLINGEN_LABEL [NCIT:C3308] -synonym: "paragangliomas" EXACT [OMIMPS:168000] +synonym: "paraganglioma" EXACT CLINGEN_LABEL [DOID:0050773, NCIT:C3308] +synonym: "paragangliomas" EXACT [] synonym: "paraganglion neoplasm" EXACT [NCIT:C3308] synonym: "paraganglion tumor" EXACT [NCIT:C3308] synonym: "paraganglion tumour" EXACT OMO:0003005 [] @@ -5612,8 +5612,8 @@ subset: orphanet_rare {source="Orphanet:51083"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "familial short QT syndrome" RELATED [Orphanet:51083] -synonym: "short QT syndrome" EXACT CLINGEN_LABEL [] +synonym: "familial short QT syndrome" RELATED [] +synonym: "short QT syndrome" EXACT CLINGEN_LABEL [DOID:0050793, icd11.foundation:553392015, NCIT:C71060, OMIMPS:609620] synonym: "ventricular arrhythmia associated with short QT syndrome" EXACT [NCIT:C71060] xref: DOID:0050793 {source="MONDO:equivalentTo"} xref: GARD:16650 {source="MONDO:GARD"} @@ -5648,9 +5648,9 @@ subset: ordo_disorder {source="Orphanet:1871"} subset: orphanet_rare {source="Orphanet:1871"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cone dystrophy" EXACT [Orphanet:1871] -synonym: "progressive cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/, Orphanet:1871] -synonym: "retinal cone dystrophy" RELATED [DOID:0050795] +synonym: "cone dystrophy" EXACT [DOID:0050795, Orphanet:1871] +synonym: "progressive cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/] +synonym: "retinal cone dystrophy" RELATED [] synonym: "stationary cone dystrophy" NARROW [https://rarediseases.org/rare-diseases/cone-dystrophy/] xref: DOID:0050795 {source="MONDO:equivalentTo"} xref: GARD:11897 {source="MONDO:GARD"} @@ -5679,8 +5679,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CCDS" EXACT ABBREVIATION [Orphanet:79172] synonym: "CDS" EXACT ABBREVIATION [Orphanet:79172] -synonym: "cerebral creatine deficiency syndrome" EXACT [Orphanet:79172] -synonym: "creatine deficiency syndrome" EXACT [MONDO:0019221] +synonym: "cerebral creatine deficiency syndrome" EXACT [DOID:0050798, OMIMPS:300352, Orphanet:79172] +synonym: "creatine deficiency syndrome" EXACT [MONDO:0019221, Orphanet:79172] xref: DOID:0050798 {source="MONDO:equivalentTo"} xref: GARD:18952 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:79172", source="Orphanet:79172/attributed", source="Orphanet:79172/ntbt"} @@ -5704,7 +5704,7 @@ def: "A molecular subtype of glioblastoma characterized by lack of p53 mutations subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "classical glioblastoma" EXACT [NCIT:C111694] -synonym: "glioblastoma classical subtype" RELATED [DOID:0050803] +synonym: "glioblastoma classical subtype" RELATED [] xref: DOID:0050803 {source="MONDO:equivalentTo"} xref: MEDGEN:820001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C111694 {source="MONDO:equivalentTo"} @@ -5717,7 +5717,7 @@ name: proneural glioblastoma def: "A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications." [NCIT:C111692] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glioblastoma proneural subtype" RELATED [DOID:0050804] +synonym: "glioblastoma proneural subtype" RELATED [] synonym: "proneural glioblastoma" EXACT [NCIT:C111692] xref: DOID:0050804 {source="MONDO:equivalentTo"} xref: MEDGEN:821212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -5731,7 +5731,7 @@ name: mesenchymal glioblastoma def: "A molecular subtype of glioblastoma characterized by the presence of NF1 mutations." [NCIT:C111695] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glioblastoma mesenchymal subtype" RELATED [DOID:0050805] +synonym: "glioblastoma mesenchymal subtype" RELATED [] synonym: "mesenchymal glioblastoma" EXACT [NCIT:C111695] xref: DOID:0050805 {source="MONDO:equivalentTo"} xref: MEDGEN:821870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -5745,7 +5745,7 @@ name: neural glioblastoma def: "A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5." [NCIT:C111693] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glioblastoma neural subtype" RELATED [DOID:0050806] +synonym: "glioblastoma neural subtype" RELATED [] synonym: "neural glioblastoma" EXACT [NCIT:C111693] xref: DOID:0050806 {source="MONDO:equivalentTo"} xref: MEDGEN:821580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -5758,8 +5758,8 @@ id: MONDO:0000461 name: nutritional biotin deficiency comment: Editor note: the DO class is 'biotin deficiency' but DO places as a subclass of nutritional. Consider adding grouping for inborn form, see PMID:3318710. MESH seems to refer to this? subset: otar {source="MONDO:OTAR"} -synonym: "B7 deficiency" BROAD [DOID:0050810] -synonym: "biotin deficiency" BROAD [DOID:0050810] +synonym: "B7 deficiency" BROAD [] +synonym: "biotin deficiency" BROAD [] synonym: "biotin deficiency disease" BROAD [] synonym: "vitamine B7 deficiency" BROAD [] xref: DOID:0050810 {source="MONDO:equivalentTo"} @@ -5810,12 +5810,12 @@ synonym: "hydronephrosis with peculiar facial expression" EXACT [DOID:0050816] synonym: "hydronephrosis-inverted smile syndrome" EXACT [Orphanet:2704] synonym: "inverted smile and occult neuropathic bladder" RELATED [GARD:0000104] synonym: "inverted smile-neurogenic bladder syndrome" EXACT [Orphanet:2704] -synonym: "Ochoa syndrome" EXACT [DOID:0050816, Orphanet:2704] +synonym: "Ochoa syndrome" EXACT [DOID:0050816, icd11.foundation:443886910, Orphanet:2704] synonym: "partial facial palsy with urinary abnormalities" EXACT [GARD:0000104, Orphanet:2704] synonym: "UFS" RELATED ABBREVIATION [GARD:0000104] synonym: "urofacial Ochoa's syndrome" RELATED [GARD:0000104] -synonym: "Urofacial Syndrome" EXACT [NORD:1515] -synonym: "urofacial syndrome" EXACT [Orphanet:2704] +synonym: "Urofacial Syndrome" EXACT [DOID:0050816, NORD:1515, OMIMPS:236730, Orphanet:2704] +synonym: "urofacial syndrome" EXACT [DOID:0050816, OMIMPS:236730, Orphanet:2704] xref: DOID:0050816 {source="MONDO:equivalentTo"} xref: GARD:104 {source="MONDO:GARD"} xref: ICD10CM:N31.8 {source="Orphanet:2704", source="Orphanet:2704/attributed", source="Orphanet:2704/ntbt"} @@ -5843,7 +5843,7 @@ id: MONDO:0000465 name: atrioventricular block def: "A heart block that is initiated in the atrioventricular node." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Atrioventricular_block] subset: otar {source="MONDO:OTAR"} -synonym: "atrioventricular block" EXACT [MONDO:ambiguous] +synonym: "atrioventricular block" EXACT [DOID:0050820, MONDO:ambiguous] synonym: "atrioventricular block (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "AV block" EXACT [DOID:0050820, Wikipedia:Atrioventricular_block] synonym: "AV nodal block" EXACT [Wikipedia:Heart_block] @@ -5869,7 +5869,7 @@ property_value: IAO:0000589 "atrioventricular block (disease)" xsd:string id: MONDO:0000466 name: first-degree atrioventricular block def: "A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds." [NCIT:C62015] -synonym: "atrioventricular block first degree" EXACT [NCIT:C62015] +synonym: "atrioventricular block first degree" EXACT [] synonym: "atrioventricular block, first degree" EXACT [NCIT:C62015] synonym: "AV block first degree" EXACT [NCIT:C62015] synonym: "first degree atrioventricular block" EXACT [NCIT:C62015] @@ -5907,11 +5907,11 @@ id: MONDO:0000468 name: third-degree atrioventricular block def: "A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)" [NCIT:C50501] subset: otar {source="MONDO:OTAR"} -synonym: "atrioventricular block complete" EXACT [NCIT:C50501] +synonym: "atrioventricular block complete" EXACT [] synonym: "atrioventricular block, third degree" EXACT [NCIT:C50501] synonym: "AV block third degree" EXACT [NCIT:C50501] synonym: "complete atrioventricular block" EXACT [NCIT:C50501] -synonym: "complete AV block" EXACT [DOID:0050823] +synonym: "complete AV block" EXACT [DOID:0050823, NCIT:C50501] synonym: "complete heart block" EXACT [NCIT:C50501] synonym: "non-congenital complete atrioventricular block" EXACT [NCIT:C50501] synonym: "third degree atrioventricular block" EXACT [NCIT:C50501] @@ -5934,10 +5934,10 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of sinoatrial node" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of sinoatrial node" EXACT [] synonym: "disorder of sinoatrial node" EXACT [MONDO:patterns/location_top] -synonym: "SA node" RELATED [DOID:0050824] -synonym: "sinoatrial node disease" EXACT [MONDO:patterns/location] +synonym: "SA node" RELATED [] +synonym: "sinoatrial node disease" EXACT [DOID:0050824, MONDO:patterns/location] synonym: "sinoatrial node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "sinuatrial node" RELATED [DOID:0050824] +synonym: "sinuatrial node" RELATED [] xref: DOID:0050824 {source="MONDO:equivalentTo"} xref: MEDGEN:98448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C0428908 {source="MEDGEN:98448", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -5955,7 +5955,7 @@ synonym: "disease or disorder of endocardium" EXACT [] synonym: "disorder of endocardium" EXACT [MONDO:patterns/location_top] synonym: "endocardial disease" EXACT [] synonym: "endocardiopathy" RELATED [] -synonym: "endocardium disease" EXACT [MONDO:patterns/location] +synonym: "endocardium disease" EXACT [DOID:0050825, MONDO:patterns/location] synonym: "endocardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:0050825 {source="MONDO:equivalentTo"} xref: MEDGEN:678520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -5973,11 +5973,11 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of tricuspid valve" EXACT [DOID:0050826, ICD9CM:397.0, MONDO:patterns/location_top] synonym: "disease or disorder of tricuspid valve" EXACT [] synonym: "disorder of tricuspid valve" EXACT [MONDO:patterns/location_top] -synonym: "RH. tricuspid valve disease" NARROW [DOID:0050826] -synonym: "rheumatic disease of tricuspid valve" NARROW [DOID:0050826] -synonym: "rheumatic tricuspid valve disease" NARROW [DOID:0050826] +synonym: "RH. tricuspid valve disease" NARROW [] +synonym: "rheumatic disease of tricuspid valve" NARROW [] +synonym: "rheumatic tricuspid valve disease" NARROW [] synonym: "tricuspid disease" EXACT [DOID:0050826] -synonym: "tricuspid valve disease" EXACT [MONDO:patterns/location] +synonym: "tricuspid valve disease" EXACT [DOID:0050826, MONDO:patterns/location] synonym: "tricuspid valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "tricuspid valve disorder" EXACT [NCIT:C78649] xref: DOID:0050826 {source="MONDO:equivalentTo"} @@ -6011,7 +6011,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "arterial disease" EXACT [NCIT:C35317] synonym: "arterial disorder" EXACT [NCIT:C35317] synonym: "arteriopathy" EXACT [NCIT:C35317] -synonym: "artery disease" EXACT [MONDO:patterns/location] +synonym: "artery disease" EXACT [DOID:0050828, MONDO:patterns/location] synonym: "artery disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of artery" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of artery" EXACT [] @@ -6034,7 +6034,7 @@ def: "A disease involving the pericardium." [https://orcid.org/0000-0002-6601-21 synonym: "disease of pericardium" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pericardium" EXACT [] synonym: "disorder of pericardium" EXACT [MONDO:patterns/location_top] -synonym: "pericardium disease" EXACT [MONDO:patterns/location] +synonym: "pericardium disease" EXACT [DOID:0050829, MONDO:patterns/location] synonym: "pericardium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:0050829 {source="MONDO:equivalentTo"} xref: ICD9:423.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -6063,25 +6063,25 @@ subset: rare synonym: "childhood torsion disease" RELATED [MESH:D004422] synonym: "dystonia 12" RELATED [DOID:0050835] synonym: "dystonia deformans musculorum" RELATED [MESH:D004422] -synonym: "dystonia deformans progressiva" EXACT [DOID:0050835, MESH:D004422] -synonym: "dystonia musculorum deformans" RELATED [DOID:0050835] +synonym: "dystonia deformans progressiva" EXACT [MESH:D004422] +synonym: "dystonia musculorum deformans" RELATED [] synonym: "dystonia, Idiopathic torsion" RELATED [MESH:D004422] synonym: "dystonias, Idiopathic torsion" RELATED [MESH:D004422] synonym: "dystonias, torsion" RELATED [MESH:D004422] -synonym: "familial dystonia" RELATED [DOID:0050835] -synonym: "fragments of torsion dystonia" RELATED [DOID:0050835] +synonym: "familial dystonia" RELATED [] +synonym: "fragments of torsion dystonia" RELATED [] synonym: "generalised isolated dystonia" EXACT OMO:0003005 [] -synonym: "generalized isolated dystonia" EXACT [MONDO:0018303] -synonym: "idiopathic familial dystonia" RELATED [DOID:0050835] -synonym: "idiopathic non-familial dystonia" RELATED [DOID:0050835] +synonym: "generalized isolated dystonia" EXACT [MONDO:0018303, Orphanet:376724] +synonym: "idiopathic familial dystonia" RELATED [] +synonym: "idiopathic non-familial dystonia" RELATED [] synonym: "Idiopathic torsion dystonia" RELATED [MESH:D004422] -synonym: "idiopathic torsion dystonia" RELATED [DOID:0050835, ICD9CM:333.6] +synonym: "idiopathic torsion dystonia" RELATED [ICD9CM:333.6] synonym: "Idiopathic torsion dystonias" RELATED [MESH:D004422] synonym: "Oppenheim Ziehen disease" RELATED [MESH:D004422] synonym: "Oppenheim-Ziehen disease" RELATED [MESH:D004422] synonym: "Progressive torsion spasm" RELATED [MESH:D004422] synonym: "spasm, Progressive torsion" RELATED [MESH:D004422] -synonym: "symptomatic torsion dystonia" RELATED [DOID:0050835] +synonym: "symptomatic torsion dystonia" RELATED [] synonym: "torsion disease of childhood" RELATED [MESH:D004422] synonym: "torsion disease, childhood" RELATED [MESH:D004422] synonym: "torsion dystonia" RELATED [MESH:D004422, Wikipedia:Dystonia#Generalized_dystonias] @@ -6180,7 +6180,7 @@ id: MONDO:0000481 name: cervical dystonia def: "Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery." [https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia] subset: otar {source="MONDO:OTAR"} -synonym: "spasmodic torticollis" RELATED [DOID:0050840] +synonym: "spasmodic torticollis" RELATED [] xref: DOID:0050840 {source="MONDO:equivalentTo"} xref: icd11.foundation:632668568 {source="MONDO:equivalentTo"} xref: ICD9:333.83 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -6197,7 +6197,7 @@ id: MONDO:0000482 name: focal hand dystonia def: "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions." [DOID:0050841, http://en.wikipedia.org/wiki/Dystonia] synonym: "hand and arm dystonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] -synonym: "organic writer's cramp" RELATED [DOID:0050841] +synonym: "organic writer's cramp" RELATED [] synonym: "writer's cramp" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] xref: DOID:0050841 {source="MONDO:equivalentTo"} xref: ICD9:333.84 {source="DOID:0050841", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -6321,7 +6321,7 @@ def: "A ischemia that involves the limb." [MONDO:patterns/location] synonym: "ischaemic disease of limb" EXACT OMO:0003005 [] synonym: "ischemic disease of limb" EXACT [MONDO:design_pattern] synonym: "limb ischaemic disease" EXACT OMO:0003005 [] -synonym: "limb ischemia" EXACT [MONDO:patterns/location] +synonym: "limb ischemia" EXACT [DOID:0050852, MONDO:patterns/location] synonym: "limb ischemic disease" EXACT [MONDO:patterns/location] xref: DOID:0050852 {source="MONDO:equivalentTo"} xref: MEDGEN:754513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -6370,7 +6370,7 @@ relationship: disease_has_feature MONDO:0000490 ! glomerulosclerosis id: MONDO:0000495 name: oppositional defiant disorder def: "A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors." [NCIT:C92565] -synonym: "oppositional defiant disorder" EXACT [MONDO:ambiguous] +synonym: "oppositional defiant disorder" EXACT [DOID:0050856, icd11.foundation:1487528823, MONDO:ambiguous, NCIT:C92565] synonym: "oppositional defiant disorder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050856 {source="MONDO:equivalentTo"} xref: HP:0010865 {source="MONDO:otherHierarchy"} @@ -6437,9 +6437,9 @@ id: MONDO:0000499 name: non-arteritic anterior ischemic optic neuropathy subset: inferred_rare subset: rare -synonym: "NAION" EXACT ABBREVIATION [Orphanet:415300] +synonym: "NAION" EXACT ABBREVIATION [] synonym: "non-arteritic aion" EXACT [Wikipedia:Arteritic_anterior_ischemic_optic_neuropathy] -synonym: "nonarteritic anterior ischaemic optic neuropathy" EXACT OMO:0003005 [] +synonym: "nonarteritic anterior ischaemic optic neuropathy" EXACT OMO:0003005 [DOID:0050864] synonym: "nonarteritic anterior ischemic optic neuropathy" EXACT [DOID:0050864] xref: DOID:0050864 {source="MONDO:equivalentTo"} xref: icd11.foundation:8640162 {source="MONDO:equivalentTo"} @@ -6459,7 +6459,7 @@ synonym: "scc of tongue" EXACT [NCIT:C4648] synonym: "squamous cell carcinoma of the tongue" EXACT [NCIT:C4648] synonym: "squamous cell carcinoma of tongue" EXACT [NCIT:C4648] synonym: "tongue scc" EXACT [NCIT:C4648] -synonym: "tongue squamous cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "tongue squamous cell carcinoma" EXACT [DOID:0050865, MONDO:patterns/location, NCIT:C4648] xref: DOID:0050865 {source="MONDO:equivalentTo"} xref: MEDGEN:91153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D002294 {source="DOID:0050865"} @@ -6479,10 +6479,10 @@ intersection_of: disease_has_location UBERON:0001723 ! tongue [Term] id: MONDO:0000501 name: obsolete Jensen syndrome -synonym: "deafness-opticoacoustic nerve atrophy-dementia syndrome" RELATED [Orphanet:3213] -synonym: "Jensen syndrome" RELATED [OMIM:311150] +synonym: "deafness-opticoacoustic nerve atrophy-dementia syndrome" RELATED [] +synonym: "Jensen syndrome" RELATED [] synonym: "nerve deafness optic nerve atrophy, and dementia" RELATED [GARD:0003046] -synonym: "opticoacoustic nerve atrophy with dementia" EXACT [DOID:0050867, MONDO:0010701, OMIM:311150] +synonym: "opticoacoustic nerve atrophy with dementia" EXACT [MONDO:0010701] synonym: "Opticoacustic nerve atrophy with dementia" RELATED [GARD:0003046] synonym: "syndrome of opticoacoustic nerve atrophy with dementia" RELATED [GARD:0003046] xref: DOID:0050867 {source="MONDO:obsoleteEquivalentObsolete"} @@ -6498,7 +6498,7 @@ id: MONDO:0000502 name: villous adenoma def: "An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "villous adenoma" EXACT [NCIT:C7399] +synonym: "villous adenoma" EXACT [DOID:0050869, NCIT:C7399] xref: DOID:0050869 {source="MONDO:equivalentTo"} xref: ICDO:8261/0 {source="NCIT:C7399"} xref: MEDGEN:60206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -6515,20 +6515,20 @@ def: "A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less comment: Editor note: check why NCIT has two classes subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adenosquamous cell carcinoma in situ of lung" RELATED [NCIT:C8748] -synonym: "adenosquamous cell carcinoma in situ of the lung" RELATED [NCIT:C8748] -synonym: "bronchioalveolar carcinoma" RELATED [DOID:0050870] -synonym: "bronchioloalveolar carcinoma" NARROW [NCIT:C136486] -synonym: "in situ pulmonary adenocarcinoma" RELATED [DOID:0050870] +synonym: "adenosquamous cell carcinoma in situ of lung" RELATED [] +synonym: "adenosquamous cell carcinoma in situ of the lung" RELATED [] +synonym: "bronchioalveolar carcinoma" RELATED [] +synonym: "bronchioloalveolar carcinoma" NARROW [] +synonym: "in situ pulmonary adenocarcinoma" RELATED [] synonym: "lung adenocarcinoma In situ" EXACT [NCIT:C136486] -synonym: "lung adenosquamous cell carcinoma in situ" RELATED [NCIT:C8748] -synonym: "stage 0 adenosquamous cell carcinoma of lung" RELATED [NCIT:C8748] -synonym: "stage 0 adenosquamous cell carcinoma of the lung" RELATED [NCIT:C8748] -synonym: "stage 0 adenosquamous cell lung carcinoma" RELATED [NCIT:C8748] -synonym: "stage 0 adenosquamous lung cancer" RELATED [NCIT:C8748] -synonym: "stage 0 adenosquamous lung carcinoma aJCC v6" RELATED [NCIT:C8748] -synonym: "stage 0 adenosquamous lung carcinoma aJCC v6 and v7" RELATED [NCIT:C8748] -synonym: "stage 0 adenosquamous lung carcinoma aJCC v7" RELATED [NCIT:C8748] +synonym: "lung adenosquamous cell carcinoma in situ" RELATED [] +synonym: "stage 0 adenosquamous cell carcinoma of lung" RELATED [] +synonym: "stage 0 adenosquamous cell carcinoma of the lung" RELATED [] +synonym: "stage 0 adenosquamous cell lung carcinoma" RELATED [] +synonym: "stage 0 adenosquamous lung cancer" RELATED [] +synonym: "stage 0 adenosquamous lung carcinoma aJCC v6" RELATED [] +synonym: "stage 0 adenosquamous lung carcinoma aJCC v6 and v7" RELATED [] +synonym: "stage 0 adenosquamous lung carcinoma aJCC v7" RELATED [] xref: DOID:0050870 {source="MONDO:equivalentTo"} xref: MEDGEN:1620128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C136486 {source="MONDO:equivalentTo"} @@ -6577,7 +6577,7 @@ synonym: "inclusion body myopathy with Paget's disease of bone and frontotempora synonym: "inclusion body myopathy/Paget disease/frontotemporal dementia" EXACT [OMIMPS:167320] synonym: "limb-girdle muscular dystrophy with Paget disease of bone" EXACT [Orphanet:52430] synonym: "pagetoid amyotrophic lateral sclerosis" EXACT [Orphanet:52430] -synonym: "pagetoid neuroskeletal syndrome" EXACT [OMIM:167320, Orphanet:52430] +synonym: "pagetoid neuroskeletal syndrome" EXACT [Orphanet:52430] xref: DOID:0050881 {source="MONDO:equivalentTo"} xref: GARD:10899 {source="MONDO:GARD"} xref: ICD10CM:G71.8 {source="Orphanet:52430", source="Orphanet:52430/attributed", source="Orphanet:52430/ntbt"} @@ -6601,7 +6601,7 @@ def: "A intellectual disability that is part of a larger syndrome." [MONDO:patte subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} synonym: "syndrome associated with intellectual disability" EXACT [MONDO:patterns/syndromic] -synonym: "syndromic intellectual disability" EXACT CLINGEN_LABEL [MONDO:patterns/syndromic] +synonym: "syndromic intellectual disability" EXACT CLINGEN_LABEL [DOID:0050888, MONDO:patterns/syndromic] xref: DOID:0050888 {source="MONDO:equivalentTo"} xref: MEDGEN:1842178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C5680525 {source="MONDO:equivalentTo", source="MEDGEN:1842178", source="MONDO:MEDGEN"} @@ -6631,8 +6631,8 @@ name: synucleinopathy def: "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]" [DOID:0050890] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "alpha synucleinopathies" RELATED [DOID:0050890] -synonym: "synucleinopathies" RELATED [DOID:0050890] +synonym: "alpha synucleinopathies" RELATED [] +synonym: "synucleinopathies" RELATED [] xref: DOID:0050890 {source="MONDO:equivalentTo"} xref: MEDGEN:1682194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D000080874 {source="MONDO:equivalentTo"} @@ -6703,7 +6703,7 @@ name: phalanx chondroma def: "A chondroma that involves the phalanx." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "phalanx chondroma" EXACT [MONDO:patterns/location] +synonym: "phalanx chondroma" EXACT [DOID:0050898, MONDO:patterns/location] xref: DOID:0050898 {source="MONDO:equivalentTo"} is_a: MONDO:0000631 {source="DOID:0050898"} ! bone benign neoplasm is_a: MONDO:0002360 {source="DOID:0050898", source="MONDO:Entailed", source="MONDO:Redundant"} ! chondroma @@ -6748,7 +6748,7 @@ def: "A oligodendroglioma that involves the corpus callosum." [MONDO:patterns/lo subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "corpus callosum oligodendroglioma" EXACT [MONDO:patterns/location] +synonym: "corpus callosum oligodendroglioma" EXACT [DOID:0050901, MONDO:patterns/location] synonym: "oligodendroglioma of corpus callosum" EXACT [MONDO:design_pattern] xref: DOID:0050901 {source="MONDO:equivalentTo"} is_a: MONDO:0002544 {source="DOID:0050901", source="MONDO:Entailed", source="MONDO:Redundant"} ! brain oligodendroglioma @@ -6764,7 +6764,7 @@ subset: rare synonym: "ependymal tumor of parietal lobe" EXACT [MONDO:design_pattern] synonym: "ependymal tumour of parietal lobe" EXACT OMO:0003005 [] synonym: "parietal lobe ependymal tumor" EXACT [MONDO:patterns/location, NCIT:C131575] -synonym: "parietal lobe ependymoma" RELATED [DOID:0050903] +synonym: "parietal lobe ependymoma" RELATED [] xref: DOID:0050903 {source="MONDO:equivalentTo"} xref: MEDGEN:1392382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C131575 {source="MONDO:equivalentTo"} @@ -6785,8 +6785,8 @@ synonym: "carcinoma of salivary gland" EXACT [NCIT:C9272] synonym: "carcinoma of the salivary gland" EXACT [NCIT:C9272] synonym: "saliva-secreting gland carcinoma" EXACT [MONDO:patterns/location] synonym: "salivary carcinoma" RELATED [ONCOTREE:SACA] -synonym: "salivary gland cancer" BROAD [NCIT:C9272] -synonym: "salivary gland carcinoma" EXACT [NCIT:C9272] +synonym: "salivary gland cancer" BROAD [] +synonym: "salivary gland carcinoma" EXACT [DOID:0050904, NCIT:C9272] xref: DOID:0050904 {source="MONDO:equivalentTo"} xref: MEDGEN:215302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200076 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -6828,10 +6828,10 @@ id: MONDO:0000525 name: cecum villous adenoma def: "A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C5520] subset: otar {source="MONDO:OTAR"} -synonym: "caecum adenoma" RELATED [DOID:0050910] +synonym: "caecum adenoma" RELATED [] synonym: "caecum villous adenoma" EXACT [MONDO:patterns/location] synonym: "cecal villous adenoma" EXACT [NCIT:C5520] -synonym: "cecum adenoma" BROAD [DOID:0050910] +synonym: "cecum adenoma" BROAD [] synonym: "cecum villous adenoma" EXACT [NCIT:C5520] synonym: "villous adenoma of cecum" EXACT [NCIT:C5520] synonym: "villous adenoma of the cecum" EXACT [NCIT:C5520] @@ -6861,7 +6861,7 @@ def: "An adenoma that arises from the colon. The group of colonic adenomas inclu subset: otar {source="MONDO:OTAR"} synonym: "adenoma of colon" EXACT [NCIT:C3864] synonym: "adenoma of the colon" EXACT [NCIT:C3864] -synonym: "colon adenoma" EXACT [MONDO:patterns/location, NCIT:C3864] +synonym: "colon adenoma" EXACT [DOID:0050912, MONDO:patterns/location, NCIT:C3864] synonym: "colonic adenoma" EXACT [NCIT:C3864] xref: DOID:0050912 {source="MONDO:equivalentTo"} xref: MEDGEN:1639098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -6894,8 +6894,8 @@ def: "An adenoma that arises from the rectum. The group of rectal adenomas inclu subset: otar {source="MONDO:OTAR"} synonym: "adenoma of rectum" EXACT [NCIT:C5546] synonym: "adenoma of the rectum" EXACT [NCIT:C5546] -synonym: "rectal adenoma" EXACT [NCIT:C5546] -synonym: "rectum adenoma" EXACT [MONDO:patterns/location] +synonym: "rectal adenoma" EXACT [DOID:0050915, NCIT:C5546] +synonym: "rectum adenoma" EXACT [DOID:0050915, MONDO:patterns/location] xref: DOID:0050915 {source="MONDO:equivalentTo"} xref: MEDGEN:266267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5546 {source="MONDO:equivalentTo"} @@ -6912,7 +6912,7 @@ name: bronchus mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma that involves the bronchus." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "bronchus mucoepidermoid carcinoma" EXACT [MONDO:patterns/location] +synonym: "bronchus mucoepidermoid carcinoma" EXACT [DOID:0050916, MONDO:patterns/location] xref: DOID:0050916 {source="MONDO:equivalentTo"} is_a: MONDO:0002806 {source="DOID:0050916", source="MONDO:Entailed", source="MONDO:Redundant"} ! bronchogenic carcinoma is_a: MONDO:0003036 {source="DOID:0050916", source="MONDO:Redundant"} ! mucoepidermoid carcinoma @@ -6944,7 +6944,7 @@ name: trachea mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma that involves the trachea." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "trachea mucoepidermoid carcinoma" EXACT [MONDO:patterns/location] +synonym: "trachea mucoepidermoid carcinoma" EXACT [DOID:0050919, MONDO:patterns/location] xref: DOID:0050919 {source="MONDO:equivalentTo"} xref: MEDGEN:835970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:707379000 {source="MONDO:equivalentTo"} @@ -6970,11 +6970,11 @@ def: "A squamous cell carcinoma that arises from the pharynx." [NCIT:C102872] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma" EXACT [NCIT:C102872] -synonym: "pharyngeal squam. cell carcinoma" EXACT [NCIT:C102872] +synonym: "pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma" EXACT [] +synonym: "pharyngeal squam. cell carcinoma" EXACT [] synonym: "pharyngeal squamous cell carcinoma" EXACT [NCIT:C102872] synonym: "pharyngeal throat squamous cell cancer" EXACT [NCIT:C102872] -synonym: "pharynx squamous cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "pharynx squamous cell carcinoma" EXACT [DOID:0050921, MONDO:patterns/location] xref: DOID:0050921 {source="MONDO:equivalentTo"} xref: EFO:1001965 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:728086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -7023,24 +7023,24 @@ def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) th subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoid tumor of small bowel" EXACT [NCIT:C4638] -synonym: "carcinoid tumor of small intestine" EXACT [NCIT:C4638] -synonym: "carcinoid tumor of the small bowel" EXACT [NCIT:C4638] -synonym: "carcinoid tumor of the small intestine" EXACT [NCIT:C4638] +synonym: "carcinoid tumor of small bowel" EXACT [] +synonym: "carcinoid tumor of small intestine" EXACT [] +synonym: "carcinoid tumor of the small bowel" EXACT [] +synonym: "carcinoid tumor of the small intestine" EXACT [] synonym: "carcinoid tumour of small bowel" EXACT OMO:0003005 [] synonym: "carcinoid tumour of small intestine" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the small bowel" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the small intestine" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of small intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] -synonym: "small bowel carcinoid tumor" EXACT [NCIT:C4638] +synonym: "small bowel carcinoid tumor" EXACT [] synonym: "small bowel carcinoid tumour" EXACT OMO:0003005 [] synonym: "small intestinal carcinoid tumor" EXACT [NCIT:C4638] synonym: "small intestinal carcinoid tumour" EXACT OMO:0003005 [] synonym: "small intestinal NET G1" EXACT [NCIT:C4638] synonym: "small intestinal neuroendocrine tumor G1" EXACT [NCIT:C4638] -synonym: "small intestine carcinoid neuroendocrine tumor" RELATED [DOID:0050925] +synonym: "small intestine carcinoid neuroendocrine tumor" RELATED [] synonym: "small intestine carcinoid neuroendocrine tumour" RELATED OMO:0003005 [] -synonym: "small intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C4638] +synonym: "small intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "small intestine carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "small intestine carcinoid tumour" EXACT OMO:0003005 [] synonym: "small intestine carcinoid tumour (disease)" EXACT OMO:0003005 [] @@ -7064,7 +7064,7 @@ name: jejunal adenocarcinoma def: "A adenocarcinoma that involves the jejunum." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "jejunal adenocarcinoma" EXACT [MONDO:ambiguous] +synonym: "jejunal adenocarcinoma" EXACT [DOID:0050926, MONDO:ambiguous, NCIT:C181158] synonym: "jejunal adenocarcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "jejunum adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:0050926 {source="MONDO:equivalentTo"} @@ -7104,7 +7104,7 @@ id: MONDO:0000544 name: mucosal melanoma def: "A melanoma that arises from a mucosal site." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "mucosal melanoma" EXACT [NCIT:C114828] +synonym: "mucosal melanoma" EXACT [DOID:0050929, NCIT:C114828] xref: DOID:0050929 {source="MONDO:equivalentTo"} xref: MEDGEN:857816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C114828 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -7119,7 +7119,7 @@ name: sublingual gland adenoid cystic carcinoma def: "A adenoid cystic carcinoma that involves the sublingual gland." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "sublingual gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location] +synonym: "sublingual gland adenoid cystic carcinoma" EXACT [DOID:0050930, MONDO:patterns/location] xref: DOID:0050930 {source="MONDO:equivalentTo"} intersection_of: MONDO:0004971 ! adenoid cystic carcinoma intersection_of: disease_has_location UBERON:0001832 ! sublingual gland @@ -7147,7 +7147,7 @@ synonym: "clear-cell ovarian carcinoma" EXACT [DOID:0050934] synonym: "malignant ovarian clear cell neoplasm" EXACT [NCIT:C40077] synonym: "malignant ovarian clear cell tumor" EXACT [NCIT:C40077] synonym: "malignant ovarian clear cell tumour" EXACT OMO:0003005 [] -synonym: "ovarian clear cell carcinoma" RELATED [DOID:0050934] +synonym: "ovarian clear cell carcinoma" RELATED [] xref: DOID:0050934 {source="MONDO:equivalentTo", source="MONDO:generalized-by-cjm"} xref: MEDGEN:276544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40077 {source="MONDO:equivalentTo"} @@ -7178,7 +7178,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "extra-adrenal chromaffin neoplasm" EXACT [EFO:0000489, NCIT:C48576] synonym: "extra-adrenal Chromaffinoma" EXACT [EFO:0000489, NCIT:C48576] -synonym: "extra-adrenal pheochromocytoma" EXACT [EFO:0000489, NCIT:C48576] +synonym: "extra-adrenal pheochromocytoma" EXACT [DOID:0050936, EFO:0000489, NCIT:C48576] synonym: "extra-adrenal sympathetic paraganglioma" EXACT [NCIT:C48576] synonym: "extra-adrenal sympathetic Paraganglionic neoplasm" EXACT [EFO:0000489, NCIT:C48576] synonym: "extraadrenal pheochromocytoma" EXACT [EFO:0000489, NCIT:C48576] @@ -7321,7 +7321,7 @@ name: GRID2-related autosomal dominant spinocerebellar ataxia comment: the DO class DOID:0050988 is named 'GRID2-related spinocerebellar ataxia' and it is asserted to be AD. Most GRID18 mutations are AR, but it is rarelt AD [https://www.ncbi.nlm.nih.gov/books/NBK1138/; Coutelier et al [2015b]]. Here we assume the DO class refers to the rare AD form. Consider merging. subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "GRID2-related spinocerebellar ataxia" RELATED [DOID:0050988] +synonym: "GRID2-related spinocerebellar ataxia" RELATED [] xref: DOID:0050988 {source="MONDO:equivalentTo"} is_a: MONDO:0020380 {source="DOID:0050988"} ! autosomal dominant cerebellar ataxia @@ -7341,7 +7341,7 @@ subset: ordo_disorder {source="Orphanet:570762"} subset: orphanet_rare {source="Orphanet:570762"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "endocarditis infective" EXACT [NCIT:C78265] +synonym: "endocarditis infective" EXACT [] synonym: "endocarditis, infective" RELATED [GARD:0006337] xref: DOID:0060000 {source="MONDO:equivalentTo"} xref: GARD:6337 {source="MONDO:GARD"} @@ -7420,7 +7420,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "recombinase activating gene 1 deficiency" EXACT CLINGEN_LABEL [] +synonym: "recombinase activating gene 1 deficiency" EXACT CLINGEN_LABEL [DOID:0060011] xref: DOID:0060011 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="DOID:0060011"} ! severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0000572 {source="MONDO:CLINGEN"} @@ -7434,7 +7434,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "recombinase activating gene 2 deficiency" EXACT CLINGEN_LABEL [] +synonym: "recombinase activating gene 2 deficiency" EXACT CLINGEN_LABEL [DOID:0060012] xref: DOID:0060012 {source="MONDO:equivalentTo"} is_a: MONDO:0015974 {source="DOID:0060012"} ! severe combined immunodeficiency relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0000573 {source="MONDO:CLINGEN"} @@ -7551,7 +7551,7 @@ id: MONDO:0000587 name: autoimmune disease of ear, nose and throat def: "An autoimmune form of otorhinolaryngologic disease." [MONDO:patterns/autoimmune] comment: Editor note: ENT typically excludes eye, but the DOID class includes this -synonym: "autoimmune disease of eyes, ear, nose and throat" RELATED [DOID:0060030] +synonym: "autoimmune disease of eyes, ear, nose and throat" RELATED [] synonym: "autoimmune otorhinolaryngologic disease" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060030 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="DOID:0060030", source="MONDO:Redundant"} ! autoimmune disease @@ -7604,7 +7604,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intrinsic cardiomyopathy" EXACT CLINGEN_LABEL [] +synonym: "intrinsic cardiomyopathy" EXACT CLINGEN_LABEL [DOID:0060036] synonym: "primary cardiomyopathy" EXACT [Wikipedia:Cardiomyopathy] xref: DOID:0060036 {source="MONDO:equivalentTo"} is_a: MONDO:0004994 {source="DOID:0060036", source="MONDO:Entailed", source="MONDO:Redundant"} ! cardiomyopathy @@ -7619,7 +7619,7 @@ name: specific developmental disorder def: "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." [DOID:0060038, http://en.wikipedia.org/wiki/Specific_developmental_disorder] subset: otar {source="MONDO:OTAR"} synonym: "specific delays in development" RELATED [] -synonym: "specific developmental disorder" EXACT [] +synonym: "specific developmental disorder" EXACT [DOID:0060038] xref: DOID:0060038 {source="MONDO:equivalentTo"} xref: ICD10CM:F80-F89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:315.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -7661,7 +7661,7 @@ id: MONDO:0000595 name: sexual and gender identity disorders def: "A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle." [NCIT:C92202] subset: otar {source="MONDO:OTAR"} -synonym: "sexual disorder" EXACT [DOID:0060043] +synonym: "sexual disorder" EXACT [] xref: DOID:0060043 {source="MONDO:equivalentTo"} xref: MEDGEN:452303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C92202 {source="MONDO:equivalentTo"} @@ -7790,12 +7790,12 @@ id: MONDO:0000605 name: hypersensitivity reaction disease def: "An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system." [ISBN-13:978-0-7817-3514-8] subset: otar {source="MONDO:OTAR"} -synonym: "allergic reaction" BROAD [NCIT:C3114] +synonym: "allergic reaction" BROAD [] synonym: "hypersensitive" EXACT [NCIT:C3114] synonym: "hypersensitivity" EXACT [NCIT:C3114] synonym: "hypersensitivity reaction" EXACT [NCIT:C3114] -synonym: "sensitive" BROAD [NCIT:C3114] -synonym: "sensitivity" BROAD [NCIT:C3114] +synonym: "sensitive" BROAD [] +synonym: "sensitivity" BROAD [] xref: DOID:0060056 {source="MONDO:equivalentTo"} xref: EFO:1002003 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:759636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -7811,9 +7811,9 @@ id: MONDO:0000606 name: obsolete gluten allergy def: "OBSOLETE. A allergy involving gluten." [MONDO:patterns/allergy] synonym: "allergy of gluten" EXACT [MONDO:patterns/allergy] -synonym: "allergy to gluten" EXACT [DOID:0060057] +synonym: "allergy to gluten" EXACT [] synonym: "gluten allergic disease" EXACT [] -synonym: "gluten allergic reaction" EXACT [DOID:0060057] +synonym: "gluten allergic reaction" EXACT [] xref: DOID:0060057 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -7827,12 +7827,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CTCL" EXACT ABBREVIATION [NCIT:C3467] -synonym: "cutaneous T cell lymphoma" EXACT [NCIT:C3467] -synonym: "cutaneous T-cell lymphoma" EXACT [DOID:0060061, MONDO:0005209, NCIT:C3467] +synonym: "cutaneous T cell lymphoma" EXACT [DOID:0060061, NCIT:C3467] +synonym: "cutaneous T-cell lymphoma" EXACT [DOID:0060061, MONDO:0005209] synonym: "cutaneous T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3467] synonym: "cutaneous T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467] synonym: "PCTCL" EXACT ABBREVIATION [NCIT:C3467] -synonym: "primary cutaneous T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3467] +synonym: "primary cutaneous T-cell non-Hodgkin lymphoma" EXACT [DOID:0060061, NCIT:C3467] synonym: "primary cutaneous T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467] synonym: "skin T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3467] synonym: "T-cell non-Hodgkin's lymphoma of skin" EXACT [NCIT:C3467] @@ -7851,7 +7851,7 @@ id: MONDO:0000608 name: familial juvenile hyperuricemic nephropathy subset: otar {source="MONDO:OTAR"} synonym: "familial juvenile gouty nephropathy" EXACT [GARD:0000067] -synonym: "familial juvenile hyperuricemic nephropathy" EXACT [GARD:0000067] +synonym: "familial juvenile hyperuricemic nephropathy" EXACT [DOID:0060062, GARD:0000067] synonym: "familial nephropathy associated with hyperuricemia" EXACT [GARD:0000067] synonym: "familial nephropathy with gout" EXACT [GARD:0000067] synonym: "FJHN" EXACT ABBREVIATION [GARD:0006806] @@ -7890,7 +7890,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "non-bacterial thrombotic endocarditis" EXACT [DOID:0060068] -synonym: "nonbacterial thrombotic endocarditis" EXACT [https://orcid.org/0000-0002-6601-2165] +synonym: "nonbacterial thrombotic endocarditis" EXACT [DOID:0060068, https://orcid.org/0000-0002-6601-2165] xref: DOID:0060068 {source="MONDO:equivalentTo"} xref: MEDGEN:452215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D059905 {source="MONDO:equivalentTo"} @@ -8000,7 +8000,7 @@ synonym: "benign tumor of breast" EXACT [NCIT:C4505] synonym: "benign tumor of the breast" EXACT [NCIT:C4505] synonym: "benign tumour of breast" EXACT OMO:0003005 [] synonym: "benign tumour of the breast" EXACT OMO:0003005 [] -synonym: "breast benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "breast benign neoplasm" EXACT [DOID:0060082, MONDO:patterns/location] xref: DOID:0060082 {source="MONDO:equivalentTo"} xref: ICD9:217 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:91085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -8018,7 +8018,7 @@ name: immune system cancer def: "A malignant neoplasm involving the immune system" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} synonym: "cancer of immune system" EXACT [MONDO:patterns/cancer] -synonym: "immune system cancer" EXACT [MONDO:patterns/location] +synonym: "immune system cancer" EXACT [DOID:0060083, MONDO:patterns/location] synonym: "malignant immune system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of immune system" EXACT [MONDO:patterns/cancer] xref: DOID:0060083 {source="MONDO:equivalentTo"} @@ -8050,7 +8050,7 @@ synonym: "benign female reproductive system tumour" EXACT OMO:0003005 [] synonym: "benign gynecologic neoplasm" EXACT [NCIT:C4934] synonym: "benign gynecologic tumor" EXACT [NCIT:C4934] synonym: "benign gynecologic tumour" EXACT OMO:0003005 [] -synonym: "female reproductive organ benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "female reproductive organ benign neoplasm" EXACT [DOID:0060086, MONDO:patterns/location] xref: DOID:0060086 {source="MONDO:equivalentTo"} xref: MEDGEN:152872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4934 {source="MONDO:equivalentTo"} @@ -8068,7 +8068,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "benign Male reproductive system neoplasm" EXACT [NCIT:C4777] synonym: "benign Male reproductive system tumor" EXACT [NCIT:C4777] synonym: "benign Male reproductive system tumour" EXACT OMO:0003005 [] -synonym: "male reproductive organ benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "male reproductive organ benign neoplasm" EXACT [DOID:0060087, MONDO:patterns/location] xref: DOID:0060087 {source="MONDO:equivalentTo"} xref: MEDGEN:181751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4777 {source="MONDO:equivalentTo"} @@ -8082,7 +8082,7 @@ intersection_of: disease_has_location UBERON:0000079 ! male reproductive system id: MONDO:0000626 name: vestibular gland benign neoplasm def: "A benign neoplasm that involves the vestibular gland." [MONDO:patterns/location] -synonym: "vestibular gland benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "vestibular gland benign neoplasm" EXACT [DOID:0060088, MONDO:patterns/location] xref: DOID:0060088 {source="MONDO:equivalentTo"} intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0011826 ! vestibular gland @@ -8122,7 +8122,7 @@ id: MONDO:0000628 name: central nervous system organ benign neoplasm def: "A benign neoplasm that involves the central nervous system." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} -synonym: "central nervous system benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "central nervous system benign neoplasm" EXACT [DOID:0060090, MONDO:patterns/location] xref: DOID:0060090 {source="MONDO:equivalentTo"} xref: MEDGEN:488882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C0347509 {source="MEDGEN:488882", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -8196,7 +8196,7 @@ synonym: "benign tumor of uterus" EXACT [NCIT:C3609] synonym: "benign tumour of the uterus" EXACT OMO:0003005 [] synonym: "benign tumour of uterus" EXACT OMO:0003005 [] synonym: "benign uterine neoplasm" EXACT [NCIT:C3609] -synonym: "benign uterine neoplasm NOS" RELATED EXCLUDE [NCIT:C3609] +synonym: "benign uterine neoplasm NOS" RELATED EXCLUDE [] synonym: "benign uterine neoplasms" EXACT [NCIT:C3609] synonym: "benign uterine tumor" EXACT [NCIT:C3609] synonym: "benign uterine tumors" EXACT [NCIT:C3609] @@ -8271,7 +8271,7 @@ replaced_by: MONDO:0018936 id: MONDO:0000636 name: musculoskeletal system benign neoplasm def: "A benign neoplasm that involves the musculoskeletal system." [MONDO:patterns/location] -synonym: "musculoskeletal system benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "musculoskeletal system benign neoplasm" EXACT [DOID:0060099, MONDO:patterns/location] xref: DOID:0060099 {source="MONDO:equivalentTo"} xref: MEDGEN:1709701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C5237920 {source="MEDGEN:1709701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -8287,8 +8287,8 @@ def: "A malignant neoplasm involving the musculoskeletal system" [https://orcid. synonym: "cancer of musculoskeletal system" EXACT [MONDO:patterns/cancer] synonym: "malignant musculoskeletal system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of musculoskeletal system" EXACT [MONDO:patterns/cancer] -synonym: "musculoskeletal system cancer" EXACT [MONDO:patterns/location] -synonym: "skeletal system cancer" RELATED [DOID:0060100] +synonym: "musculoskeletal system cancer" EXACT [DOID:0060100, MONDO:patterns/location] +synonym: "skeletal system cancer" RELATED [] xref: DOID:0060100 {source="MONDO:equivalentTo"} xref: MEDGEN:1714562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C0036210 {source="MEDGEN:1714562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -8336,12 +8336,12 @@ name: central nervous system primitive neuroectodermal neoplasm def: "A neuroectodermal tumor that involves the central nervous system." [MONDO:patterns/location] comment: NCIT calls this CNS embryonal tumor, NOS subset: otar {source="MONDO:OTAR"} -synonym: "central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5398] -synonym: "central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5398] +synonym: "central nervous system embryonal tumor, NOS" RELATED EXCLUDE [] +synonym: "central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [] synonym: "central nervous system neuroectodermal tumor" EXACT [MONDO:patterns/location] synonym: "central nervous system neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "central nervous system PNET" EXACT [NCIT:C5398] -synonym: "central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5398] +synonym: "central nervous system primitive neuroectodermal neoplasm" EXACT [DOID:0060103, NCIT:C5398] synonym: "central nervous system primitive neuroectodermal tumor" EXACT [MONDO:patterns/location, NCIT:C5398] synonym: "central nervous system primitive neuroectodermal tumor (WHO grade IV)" EXACT [NCIT:C5398] synonym: "central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 [] @@ -8349,8 +8349,8 @@ synonym: "central nervous system primitive neuroectodermal tumour (WHO grade IV) synonym: "central primitive neuroectodermal neoplasm" EXACT [NCIT:C5398] synonym: "central primitive neuroectodermal tumor" EXACT [NCIT:C5398] synonym: "central primitive neuroectodermal tumour" EXACT OMO:0003005 [] -synonym: "CNS embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5398] -synonym: "CNS embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5398] +synonym: "CNS embryonal tumor, NOS" RELATED EXCLUDE [] +synonym: "CNS embryonal tumor, not otherwise specified" RELATED EXCLUDE [] synonym: "CNS PNET" EXACT [NCIT:C5398] synonym: "CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5398] synonym: "CNS primitive neuroectodermal tumor" EXACT [NCIT:C5398] @@ -8418,7 +8418,7 @@ name: cervical benign neoplasm def: "A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma." [NCIT:P378] synonym: "benign cervical neoplasm" EXACT [NCIT:C3607] synonym: "benign cervix uteri neoplasm" EXACT [NCIT:C3607] -synonym: "benign cervix uteri neoplasm NOS" RELATED EXCLUDE [NCIT:C3607] +synonym: "benign cervix uteri neoplasm NOS" RELATED EXCLUDE [] synonym: "benign cervix uteri tumor" EXACT [NCIT:C3607] synonym: "benign cervix uteri tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of cervix uteri" EXACT [NCIT:C3607] @@ -8462,12 +8462,12 @@ synonym: "benign fallopian tube tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of fallopian tube" EXACT [NCIT:C4517] synonym: "benign neoplasm of the fallopian tube" EXACT [NCIT:C4517] synonym: "benign tumor of fallopian tube" EXACT [NCIT:C4517] -synonym: "benign tumor of fallopian tubes" EXACT [MONDO:0015865] +synonym: "benign tumor of fallopian tubes" EXACT [MONDO:0015865, Orphanet:180237] synonym: "benign tumor of the fallopian tube" EXACT [NCIT:C4517] synonym: "benign tumour of fallopian tube" EXACT OMO:0003005 [] synonym: "benign tumour of fallopian tubes" EXACT OMO:0003005 [] synonym: "benign tumour of the fallopian tube" EXACT OMO:0003005 [] -synonym: "fallopian tube benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "fallopian tube benign neoplasm" EXACT [DOID:0060111, MONDO:patterns/location] synonym: "fallopian tube neoplasm, benign" EXACT [NCIT:C4517] synonym: "fallopian tube tumor, benign" EXACT [NCIT:C4517] xref: DOID:0060111 {source="MONDO:equivalentTo"} @@ -8552,7 +8552,7 @@ synonym: "benign tumor of nervous system" EXACT [NCIT:C4789] synonym: "benign tumor of the nervous system" EXACT [NCIT:C4789] synonym: "benign tumour of nervous system" EXACT OMO:0003005 [] synonym: "benign tumour of the nervous system" EXACT OMO:0003005 [] -synonym: "nervous system benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "nervous system benign neoplasm" EXACT [DOID:0060115, MONDO:patterns/location] synonym: "nervous system neoplasm, benign" EXACT [NCIT:C4789] xref: DOID:0060115 {source="MONDO:equivalentTo"} xref: ICD9:225.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -8574,7 +8574,7 @@ def: "A malignant neoplasm involving the sensory system" [https://orcid.org/0000 synonym: "cancer of sensory system" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of sensory system" EXACT [MONDO:patterns/cancer] synonym: "malignant sensory system neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "sensory system cancer" EXACT [MONDO:patterns/location] +synonym: "sensory system cancer" EXACT [DOID:0060116, MONDO:patterns/location] xref: DOID:0060116 {source="MONDO:equivalentTo"} is_a: MONDO:0005872 {source="DOID:0060116", source="MONDO:Entailed", source="MONDO:Redundant"} ! nervous system cancer intersection_of: MONDO:0004992 ! cancer @@ -8605,8 +8605,8 @@ synonym: "disease of thoracic segment of trunk" EXACT [MONDO:patterns/location_t synonym: "disease or disorder of thoracic segment of trunk" EXACT [] synonym: "disorder of thoracic segment of trunk" EXACT [MONDO:patterns/location_top] synonym: "disorder of thorax" EXACT [] -synonym: "thoracic disease" EXACT [NCIT:C35742] -synonym: "thoracic disorder" EXACT [NCIT:C35742] +synonym: "thoracic disease" EXACT [] +synonym: "thoracic disorder" EXACT [] synonym: "thoracic segment of trunk disease" EXACT [MONDO:patterns/location] synonym: "thoracic segment of trunk disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:0060118 {source="MONDO:obsoleteEquivalent"} @@ -8655,11 +8655,11 @@ synonym: "benign neoplasm of the soft tissue and bone" EXACT [NCIT:C53684] synonym: "benign tumor of the soft tissue and bone" EXACT [NCIT:C53684] synonym: "benign tumour of the soft tissue and bone" EXACT OMO:0003005 [] synonym: "connective and soft tissue neoplasm, benign" EXACT [MONDO:patterns/benign, NCIT:C53684] -synonym: "connective tissue benign neoplasm" EXACT [MONDO:patterns/location] -synonym: "neoplasm of soft tissue" RELATED [DOID:0060123] -synonym: "neoplasm of soft tissues" RELATED [DOID:0060123] -synonym: "soft tissue benign neoplasm" RELATED [DOID:0060123] -synonym: "tumor of the soft tissue" RELATED [DOID:0060123, NCIT:C3377] +synonym: "connective tissue benign neoplasm" EXACT [DOID:0060123, MONDO:patterns/location] +synonym: "neoplasm of soft tissue" RELATED [] +synonym: "neoplasm of soft tissues" RELATED [] +synonym: "soft tissue benign neoplasm" RELATED [] +synonym: "tumor of the soft tissue" RELATED [] synonym: "tumour of the soft tissue" RELATED OMO:0003005 [] xref: DOID:0060123 {source="MONDO:equivalentTo"} xref: MEDGEN:83866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -8706,7 +8706,7 @@ def: "A heavy chain disease that results from an overproduction of delta antibod subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "delta chain disease" EXACT [] +synonym: "delta chain disease" EXACT [DOID:0060129] synonym: "delta heavy chain disease" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "IgD heavy chain disease" EXACT [] xref: DOID:0060129 {source="MONDO:equivalentTo"} @@ -8789,7 +8789,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5838/apraxia id: MONDO:0000666 name: associative visual agnosia def: "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them." [DOID:0060136, http://en.wikipedia.org/wiki/Agnosia] -synonym: "associative agnosia" RELATED [DOID:0060136] +synonym: "associative agnosia" RELATED [] xref: DOID:0060136 {source="MONDO:equivalentTo"} is_a: MONDO:0000685 {source="https://orcid.org/0000-0002-6601-2165"} ! visual agnosia is_a: MONDO:0005638 {source="DOID:0060136", source="MONDO:Redundant"} ! agnosia @@ -8839,7 +8839,7 @@ id: MONDO:0000671 name: finger agnosia def: "An agnosia characterized by an inability to distinguish, name, or recognize the fingers" [https://orcid.org/0000-0002-6601-2165, Wikipedia:Finger_agnosia] comment: It is one of a tetrad of symptoms in Gerstmann syndrome, although it is also possible for finger agnosia to exist on its own without any other disorder: Della Sala, S, and Spinnler, H. Finger Agnosia: fiction or reality? Archives of Neurology 51.5 (1994): 448–50. -synonym: "finger agnosia" EXACT [MONDO:ambiguous] +synonym: "finger agnosia" EXACT [DOID:0060141, MONDO:ambiguous] synonym: "finger agnosia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "manual digit agnosia" EXACT [MONDO:patterns/location] xref: DOID:0060141 {source="MONDO:equivalentTo"} @@ -8880,7 +8880,7 @@ id: MONDO:0000675 name: pain agnosia def: "Loss of the ability to perceive and process pain." [NCIT:C125664] subset: otar {source="MONDO:OTAR"} -synonym: "analgesia" RELATED [DOID:0060145] +synonym: "analgesia" RELATED [] xref: DOID:0060145 {source="MONDO:equivalentTo"} xref: EFO:1001484 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:154351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -8927,7 +8927,7 @@ is_a: MONDO:0005638 {source="DOID:0060149"} ! agnosia id: MONDO:0000680 name: astereognosia def: "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight." [DOID:0060150, http://en.wikipedia.org/wiki/Agnosia] -synonym: "astereognosia" EXACT [MONDO:ambiguous] +synonym: "astereognosia" EXACT [DOID:0060150, icd11.foundation:756147896, MONDO:ambiguous] synonym: "astereognosia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "somatosensory agnosia" EXACT [DOID:0060150] xref: DOID:0060150 {source="MONDO:equivalentTo"} @@ -8980,7 +8980,7 @@ is_a: MONDO:0005638 {source="DOID:0060154", source="MONDO:Redundant"} ! agnosia id: MONDO:0000685 name: visual agnosia def: "An inability to recognize or interpret objects by sight." [NCIT:C35276] -synonym: "visual agnosia" EXACT [MONDO:ambiguous] +synonym: "visual agnosia" EXACT [DOID:0060155, MONDO:ambiguous, NCIT:C35276] synonym: "visual agnosia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "visuoperceptual agnosia" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060155 {source="MONDO:equivalentTo"} @@ -9062,13 +9062,13 @@ subset: gard_rare {source="GARD:9433", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:289899"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "disorder of organic acid metabolism" BROAD [NCIT:C101334] +synonym: "disorder of organic acid metabolism" BROAD [] synonym: "inborn error of organic acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn organic acid metabolic process disorder" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inherited organic acidemia" RELATED [MONDO:patterns/inborn_metabolic] -synonym: "organic acid metabolism disorder" BROAD [DOID:0060159] +synonym: "organic acid metabolism disorder" BROAD [] synonym: "organic acidemia" EXACT [DOID:0060159, GARD:0009433] -synonym: "organic aciduria" EXACT [DOID:0060159, MONDO:0017358] +synonym: "organic aciduria" EXACT [DOID:0060159, icd11.foundation:1921636230, MONDO:0017358, Orphanet:289899] synonym: "rare inborn error of organic acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0060159 {source="MONDO:equivalentTo"} xref: GARD:9433 {source="MONDO:GARD"} @@ -9095,7 +9095,7 @@ name: body dysmorphic disorder def: "Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning." [MESH:D057215] synonym: "body dysmorphia" EXACT [DOID:0060163] synonym: "dysmorphic syndrome" EXACT [DOID:0060163] -synonym: "dysmorphophobia" EXACT [DOID:0060163] +synonym: "dysmorphophobia" EXACT [DOID:0060163, ICD10CM:F45.22, icd11.foundation:731724655] xref: DOID:0060163 {source="MONDO:equivalentTo"} xref: ICD10CM:F45.22 {source="MONDO:equivalentTo"} xref: icd11.foundation:731724655 {source="MONDO:equivalentTo"} @@ -9123,7 +9123,7 @@ name: bipolar II disorder def: "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes." [DOID:0060166, http://en.wikipedia.org/wiki/Bipolar_II] synonym: "bipolar 2 disorder" RELATED [] synonym: "bipolar II disorder" EXACT [] -synonym: "bipolar ll disorder" RELATED [DOID:0060166] +synonym: "bipolar ll disorder" RELATED [] xref: DOID:0060166 {source="MONDO:equivalentTo"} xref: ICD9:296.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:536634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -9137,7 +9137,7 @@ name: seasonal affective disorder def: "A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence." [MESH:D016574] synonym: "sad" BROAD [https://orcid.org/0000-0002-6601-2165] synonym: "SADS" BROAD ABBREVIATION [GARD:0009434] -synonym: "seasonal affective disorder" EXACT [] +synonym: "seasonal affective disorder" EXACT [DOID:0060167] synonym: "winter depression" EXACT [DOID:0060167] xref: DOID:0060167 {source="MONDO:equivalentTo"} xref: ICD9:296.99 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -9197,8 +9197,8 @@ subset: gard_rare {source="GARD:10975", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial hemiplegic migraine" EXACT CLINGEN_LABEL [] -synonym: "FHM" EXACT ABBREVIATION [OMIM:141500] +synonym: "familial hemiplegic migraine" EXACT CLINGEN_LABEL [DOID:0060178, icd11.foundation:1827007904, NCIT:C117009] +synonym: "FHM" EXACT ABBREVIATION [] synonym: "hemiplegic migraine, familial" RELATED [GARD:0010975] synonym: "hemiplegic-ophthalmoplegic migraine" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "hereditary hemiplegic migraine" EXACT [MONDO:patterns/hereditary] @@ -9309,10 +9309,10 @@ id: MONDO:0000705 name: Clostridium difficile colitis def: "A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated." [NCIT:C35286] synonym: "C. diff colitis" EXACT [NCIT:C35286] -synonym: "C. diff infection" EXACT [NCIT:C35286] +synonym: "C. diff infection" EXACT [] synonym: "Clostridioides difficile caused colitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Clostridioides difficile colitis (disease)" EXACT [] -synonym: "Clostridium difficile infection" EXACT [NCIT:C35286] +synonym: "Clostridium difficile infection" EXACT [] synonym: "pseudomembranous colitis" EXACT [DOID:0060185, MESH:D004761] xref: DOID:0060185 {source="MONDO:equivalentTo"} xref: ICD10CM:A04.7 {source="DOID:0060185"} @@ -9369,7 +9369,7 @@ relationship: realized_in_response_to NCIT:C52005 ! Enterostomy [Term] id: MONDO:0000708 name: Crohn jejunoileitis -synonym: "jejunoileitis" RELATED [DOID:0060188] +synonym: "jejunoileitis" RELATED [] xref: DOID:0060188 {source="MONDO:equivalentTo"} xref: ICD10CM:K50.0 {source="DOID:0060188"} xref: MEDGEN:1807919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -9384,8 +9384,8 @@ id: MONDO:0000709 name: Crohn ileitis def: "An Crohn disease involving a pathogenic inflammatory response in the ileum." [MONDO:patterns/specific_inflammatory_disease_by_site] subset: otar {source="MONDO:OTAR"} -synonym: "Crohn's ileitis" EXACT [DOID:0060189] -synonym: "ileitis" RELATED [DOID:0060189] +synonym: "Crohn's ileitis" EXACT [DOID:0060189, NCIT:C35329] +synonym: "ileitis" RELATED [] xref: CSP:1248-5305 {source="DOID:0060189"} xref: DOID:0060189 {source="MONDO:equivalentTo"} xref: ICD10CM:K52.9 {source="DOID:0060189"} @@ -9407,7 +9407,7 @@ intersection_of: disease_has_inflammation_site UBERON:0002116 ! ileum id: MONDO:0000710 name: gastroduodenal Crohn disease def: "An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite." [DOID:0060191, http://en.wikipedia.org/wiki/Crohn%27s_disease, http://www.bidmc.org/Centers-and-Departments/Departments/Digestive-Disease-Center/Inflammatory-Bowel-Disease-Program/Crohns-Disease/What-are-the-types-of-Crohns-disease.aspx, http://www.ccfa.org/what-are-crohns-and-colitis/what-is-crohns-disease/types-of-crohns-disease.html, PMID:12769447] -synonym: "gastroduodenal Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "gastroduodenal Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0060191, MONDO:LexicalVariant] synonym: "upper GI Crohn's disease" EXACT [DOID:0060191] xref: DOID:0060191 {source="MONDO:equivalentTo"} xref: ICD10CM:K50.0 {source="DOID:0060191"} @@ -9450,8 +9450,8 @@ name: lymph node adenoid cystic carcinoma def: "A adenoid cystic carcinoma that involves the lymph node." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "lymph node adenoid cystic cancer" RELATED [DOID:0060219] -synonym: "lymph node adenoid cystic carcinoma" EXACT [MONDO:patterns/location] +synonym: "lymph node adenoid cystic cancer" RELATED [] +synonym: "lymph node adenoid cystic carcinoma" EXACT [DOID:0060219, MONDO:patterns/location] xref: DOID:0060219 {source="MONDO:equivalentTo"} is_a: MONDO:0001082 {source="DOID:0060219", source="MONDO:Entailed", source="MONDO:Redundant"} ! lymph node cancer intersection_of: MONDO:0004971 ! adenoid cystic carcinoma @@ -9517,8 +9517,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "isolated synpolydactyly" EXACT [] synonym: "nonsyndromic synpolydactyly" EXACT [MONDO:patterns/isolated] -synonym: "syndactyly type 2" RELATED EXCLUDE [DOID:0060242] -synonym: "synpolydactyly" RELATED [DOID:0060242] +synonym: "syndactyly type 2" RELATED EXCLUDE [] +synonym: "synpolydactyly" RELATED [] xref: DOID:0060242 {source="MONDO:equivalentTo"} xref: MESH:C538153 {source="DOID:0060242", source="MONDO:relatedTo"} xref: NCIT:C75003 {source="DOID:0060242", source="MONDO:relatedTo"} @@ -9532,11 +9532,11 @@ id: MONDO:0000723 name: stutter disorder def: "A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age." [NCIT:C35043] comment: Editor note: check this; consider subclass for familial -synonym: "familial persistent stuttering" NARROW [DOID:0060243] +synonym: "familial persistent stuttering" NARROW [] synonym: "stammering" EXACT [DOID:0060243] synonym: "stutter" EXACT [NCIT:C35043] synonym: "stuttering" EXACT [DOID:0060243] -synonym: "stuttering, familial persistent" NARROW [OMIMPS:184450] +synonym: "stuttering, familial persistent" NARROW [] xref: DOID:0060243 {source="MONDO:equivalentTo"} xref: ICD10CM:F80.81 {source="DOID:0060243"} xref: MEDGEN:20932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -9616,7 +9616,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "blepharoptosis" EXACT [DOID:0060260] synonym: "drooping eyelid" EXACT [DOID:0060260] synonym: "eyelid ptosis" EXACT [NCIT:C27298] -synonym: "ptosis" EXACT [MONDO:ambiguous] +synonym: "ptosis" EXACT [DOID:0060260, MONDO:ambiguous, NCIT:C27298] synonym: "ptosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060260 {source="MONDO:equivalentTo"} xref: HP:0000508 {source="MONDO:otherHierarchy", source="DOID:0060260"} @@ -9685,7 +9685,7 @@ subset: orphanet_rare {source="Orphanet:53691"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital cornea plana" EXACT [Orphanet:53691] -synonym: "flat cornea" EXACT [DOID:0060287] +synonym: "flat cornea" EXACT [DOID:0060287, icd11.foundation:262157734] xref: DOID:0060287 {source="MONDO:equivalentTo"} xref: GARD:16657 {source="MONDO:GARD"} xref: HP:0007720 {source="DOID:0060287", source="MONDO:otherHierarchy"} @@ -9706,8 +9706,8 @@ name: Ohdo syndrome and variants subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Ohdo blepharophimosis syndrome" NARROW [DOID:0060289] -synonym: "Ohdo syndrome" RELATED [DOID:0060289] +synonym: "Ohdo blepharophimosis syndrome" NARROW [] +synonym: "Ohdo syndrome" RELATED [] xref: DOID:0060289 {source="MONDO:equivalentTo"} xref: MESH:C536232 {source="DOID:0060289"} xref: Orphanet:2728 {source="DOID:0060289"} @@ -9762,7 +9762,7 @@ replaced_by: MONDO:0020119 id: MONDO:0000739 name: uvulitis def: "Inflammation of the uvula." [NCIT:C128385] -synonym: "acute uvulitis" NARROW [DOID:0060310] +synonym: "acute uvulitis" NARROW [] synonym: "inflammation of palatine uvula" EXACT [] synonym: "palatine uvula inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:0060310 {source="MONDO:equivalentTo"} @@ -9802,11 +9802,11 @@ id: MONDO:0000741 name: angular cheilitis def: "Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts." [NCIT:C112198] synonym: "angle of oral opening cheilitis" EXACT [MONDO:patterns/location] -synonym: "angular cheilitis" EXACT [NCIT:C112198] +synonym: "angular cheilitis" EXACT [DOID:0060312, icd11.foundation:591060439, NCIT:C112198] synonym: "angular cheilosis" EXACT [DOID:0060312] -synonym: "angular stomatitis" EXACT [DOID:0060312] +synonym: "angular stomatitis" EXACT [DOID:0060312, icd11.foundation:591060439] synonym: "cheilitis of angle of oral opening" EXACT [MONDO:design_pattern] -synonym: "cheilosis" RELATED [DOID:0060312, NCIT:C112198] +synonym: "cheilosis" RELATED [] synonym: "commissural cheilitis" EXACT [DOID:0060312] synonym: "perleche" EXACT [NCIT:C112198] synonym: "perlèche" EXACT [NCIT:C112198] @@ -9829,7 +9829,7 @@ intersection_of: disease_has_location UBERON:0018149 ! angle of oral opening [Term] id: MONDO:0000742 name: obsolete persistent generalized lymphadenopathy -synonym: "PGL" EXACT ABBREVIATION [DOID:0060314] +synonym: "PGL" EXACT ABBREVIATION [] xref: DOID:0060314 {source="MONDO:obsoleteEquivalent"} xref: SCTID:95892003 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -9839,7 +9839,7 @@ replaced_by: HP:0008940 id: MONDO:0000743 name: oral hairy leukoplakia def: "An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy." [NCIT:P378] -synonym: "hairy leukoplakia" RELATED [DOID:0060315] +synonym: "hairy leukoplakia" RELATED [] synonym: "hairy leukoplakia of mouth" EXACT [NCIT:C3722] synonym: "hairy leukoplakia of oral mucosa" EXACT [NCIT:C3722] synonym: "hairy leukoplakia of the mouth" EXACT [NCIT:C3722] @@ -9865,7 +9865,7 @@ id: MONDO:0000744 name: lung abscess def: "A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "lung abscess" EXACT [MONDO:ambiguous] +synonym: "lung abscess" EXACT [DOID:0060317, MONDO:ambiguous, NCIT:C99090] synonym: "lung abscess (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060317 {source="MONDO:equivalentTo"} xref: EFO:1001362 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -9888,7 +9888,7 @@ id: MONDO:0000745 name: cardiac arrest def: "Cessation of breathing and/or cardiac function." [NCIT:P378] synonym: "cardiopulmonary arrest" EXACT [DOID:0060319] -synonym: "circulatory arrest" EXACT [DOID:0060319] +synonym: "circulatory arrest" EXACT [DOID:0060319, icd11.foundation:395422191] xref: DOID:0060319 {source="MONDO:equivalentTo"} xref: ICD10CM:I46 {source="MONDO:equivalentTo", source="DOID:0060319"} xref: icd11.foundation:395422191 {source="MONDO:equivalentTo"} @@ -9984,7 +9984,7 @@ def: "Inflammation of the mucosal lining of the mastoid antrum and mastoid air c synonym: "inflammation of mastoid process of temporal bone" EXACT [] synonym: "mastoid process of temporal bone inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "mastoid process of temporal boneitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "mastoiditis" EXACT [MONDO:ambiguous] +synonym: "mastoiditis" EXACT [DOID:0060322, MONDO:ambiguous, NCIT:C128368] synonym: "mastoiditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060322 {source="MONDO:equivalentTo"} xref: HP:0000265 {source="DOID:0060322", source="MONDO:otherHierarchy"} @@ -10036,7 +10036,7 @@ synonym: "adenomatous polyp of cervix" EXACT [NCIT:C2939] synonym: "adenomatous polyp of the cervix" EXACT [NCIT:C2939] synonym: "adenomatous polyp of the uterine cervix" EXACT [NCIT:C2939] synonym: "adenomatous polyp of uterine cervix" EXACT [NCIT:C2939] -synonym: "cervical polyp" EXACT [MONDO:ambiguous, NCIT:C2939] +synonym: "cervical polyp" EXACT [DOID:0060325, MONDO:ambiguous, NCIT:C2939] synonym: "cervical polyp (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cervix adenomatous polyp" EXACT [NCIT:C2939] synonym: "cervix polyp" EXACT [NCIT:C2939] @@ -10088,7 +10088,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:228113"} subset: orphanet_rare {source="Orphanet:228113"} subset: rare -synonym: "anal fistula" EXACT [MONDO:ambiguous] +synonym: "anal fistula" EXACT [DOID:0060328, ICD10CM:K60.3, icd11.foundation:206903882, MONDO:ambiguous, NCIT:C60785, Orphanet:228113] synonym: "anal fistula (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "anorectal fistula" EXACT [NCIT:C60785] xref: DOID:0060328 {source="MONDO:equivalentTo"} @@ -10112,8 +10112,8 @@ id: MONDO:0000755 name: ectopic pregnancy def: "An abnormal pregnancy in which the conception is implanted outside the endometrial cavity." [NCIT:P378] synonym: "eccyesis" EXACT [DOID:0060329] -synonym: "extrauterine pregnancy" EXACT [NCIT:C34945] -synonym: "pregnancy, ectopic" EXACT [NCIT:C34945] +synonym: "extrauterine pregnancy" EXACT [icd11.foundation:1563334645, NCIT:C34945] +synonym: "pregnancy, ectopic" EXACT [] xref: DOID:0060329 {source="MONDO:equivalentTo"} xref: ICD10CM:O00 {source="DOID:0060329"} xref: ICD10CM:O00-O08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -10150,7 +10150,7 @@ name: glucocorticoid-induced osteoporosis def: "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption." [DOID:0060343, PMID:17566815, PMID:22870429] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "steroid-induced osteoporosis" RELATED [DOID:0060343] +synonym: "steroid-induced osteoporosis" RELATED [] xref: DOID:0060343 {source="MONDO:equivalentTo"} is_a: MONDO:0005298 {source="DOID:0060343", source="MONDO:indirect"} ! osteoporosis intersection_of: MONDO:0005298 ! osteoporosis @@ -10166,7 +10166,7 @@ synonym: "angiomatoses, epithelioid" RELATED [MESH:D016917] synonym: "angiomatosis, bacillary epithelioid" RELATED [MESH:D016917] synonym: "angiomatosis, epithelioid" RELATED [MESH:D016917] synonym: "bacillary Angiomatoses" RELATED [MESH:D016917] -synonym: "bacillary angiomatosis" EXACT [MESH:D016917, NCIT:C3477] +synonym: "bacillary angiomatosis" EXACT [DOID:0060345, icd11.foundation:1416616903, MESH:D016917, NCIT:C3477] synonym: "bacillary epithelioid Angiomatoses" RELATED [MESH:D016917] synonym: "bacillary epithelioid angiomatosis" EXACT [MESH:D016917, NCIT:C3477] synonym: "Bartonella angiomatosis" EXACT [] @@ -10211,7 +10211,7 @@ comment: Editor note: this is used in DOID to encompass typically partial deleti subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosomal deletion syndrome" RELATED [DOID:0060388] +synonym: "chromosomal deletion syndrome" RELATED [] synonym: "microdeletion syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/5236, https://orcid.org/0000-0002-4142-7153] xref: DOID:0060388 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 {source="DOID:0060388"} ! chromosomal disorder @@ -10225,7 +10225,7 @@ def: "A chromosomal disorder consisting of the presence of a part of a chromosom comment: This term includes partial trisomy (one additional copy of a chromosome part), and partial tetrasomy (2 additional copies of a chromosome part).\n\nEditor note: this is used in DOID to encompass typically partial duplications subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "chromosomal duplication syndrome" RELATED [DOID:0060429] +synonym: "chromosomal duplication syndrome" RELATED [] synonym: "microduplication sydrome" EXACT [https://github.com/monarch-initiative/mondo/issues/5236, https://orcid.org/0000-0002-4142-7153] xref: DOID:0060429 {source="MONDO:equivalentTo"} is_a: MONDO:0019040 {source="DOID:0060429"} ! chromosomal disorder @@ -10235,7 +10235,7 @@ id: MONDO:0000763 name: epithelial and subepithelial corneal dystrophy subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "epithelial and subepithelial dystrophy" RELATED [DOID:0060440, https://www.webmedcentral.com/wmcpdf/Article_WMC001598.pdf] +synonym: "epithelial and subepithelial dystrophy" RELATED [https://www.webmedcentral.com/wmcpdf/Article_WMC001598.pdf] xref: DOID:0060440 {source="MONDO:equivalentTo"} is_a: MONDO:0018102 {source="DOID:0060440"} ! corneal dystrophy @@ -10269,7 +10269,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "corneal dystrophy (disease) of corneal epithelium" EXACT [] synonym: "corneal epithelium corneal dystrophy (disease)" RELATED EXCLUDE [MONDO:patterns/location] -synonym: "endothelial dystrophy" RELATED [DOID:0060443] +synonym: "endothelial dystrophy" RELATED [] xref: DOID:0060443 {source="MONDO:equivalentTo"} xref: ICD9:371.57 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:1779156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -10296,7 +10296,7 @@ id: MONDO:0000769 name: obsolete chicken egg allergy def: "OBSOLETE. An egg allergy triggered by Gallus gallus eggs." [DOID:0060492] comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271 -synonym: "Gallus gallus egg allergy" RELATED [DOID:0060492] +synonym: "Gallus gallus egg allergy" RELATED [] xref: DOID:0060492 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10325,7 +10325,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "airway allergy" EXACT [DOID:0060496] synonym: "allergic form of respiratory system disease" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "allergic respiratory system disease" EXACT [] -synonym: "respiratory allergy" EXACT [] +synonym: "respiratory allergy" EXACT [DOID:0060496] xref: DOID:0060496 {source="MONDO:equivalentTo"} xref: MEDGEN:734246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C1504369 {source="MEDGEN:734246", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -10435,7 +10435,7 @@ def: "OBSOLETE. A allergy involving a Malus domestica." [MONDO:patterns/allergy] synonym: "allergy of Malus domestica" EXACT [MONDO:patterns/allergy] synonym: "Malus domestica allergic disease" EXACT [] synonym: "Malus domestica caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Malus domestica fruit allergy" EXACT [DOID:0060504] +synonym: "Malus domestica fruit allergy" EXACT [] xref: DOID:0060504 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10448,7 +10448,7 @@ def: "OBSOLETE. A allergy involving a Prunus armeniaca." [MONDO:patterns/allergy synonym: "allergy of Prunus armeniaca" EXACT [MONDO:patterns/allergy] synonym: "Prunus armeniaca allergic disease" EXACT [] synonym: "Prunus armeniaca caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Prunus armeniaca fruit allergy" EXACT [DOID:0060505] +synonym: "Prunus armeniaca fruit allergy" EXACT [] xref: DOID:0060505 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10459,7 +10459,7 @@ id: MONDO:0000781 name: obsolete cherry allergy def: "OBSOLETE. A fruit allergy triggered by Prunus avium plant fruit food product." [DOID:0060506] comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271 -synonym: "Prunus avium fruit allergy" EXACT [DOID:0060506] +synonym: "Prunus avium fruit allergy" EXACT [] xref: DOID:0060506 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10471,7 +10471,7 @@ id: MONDO:0000782 name: obsolete Indian plum allergy def: "OBSOLETE. A fruit allergy triggered by Ziziphus mauritiana plant fruit food product." [DOID:0060507] comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271 -synonym: "Ziziphus mauritiana fruit allergy" EXACT [DOID:0060507] +synonym: "Ziziphus mauritiana fruit allergy" EXACT [] xref: DOID:0060507 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10483,8 +10483,8 @@ id: MONDO:0000783 name: obsolete orange allergy def: "OBSOLETE. A fruit allergy triggered by Citrus sinensis plant fruit food product." [DOID:0060508] comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271 -synonym: "Citrus sinensis fruit allergy" EXACT [DOID:0060508] -synonym: "orange allergy" EXACT [DOID:0060508] +synonym: "Citrus sinensis fruit allergy" EXACT [] +synonym: "orange allergy" EXACT [] xref: DOID:0060508 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10496,7 +10496,7 @@ id: MONDO:0000784 name: obsolete melon allergy def: "OBSOLETE. A fruit allergy triggered by Cucumis melo plant fruit food product." [DOID:0060509] comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: allergic disease-MONDO:0005271 -synonym: "Cucumis melo fruit allergy" EXACT [DOID:0060509] +synonym: "Cucumis melo fruit allergy" EXACT [] xref: DOID:0060509 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10510,7 +10510,7 @@ def: "OBSOLETE. A allergy involving a Prunus persica." [MONDO:patterns/allergy] synonym: "allergy of Prunus persica" EXACT [MONDO:patterns/allergy] synonym: "Prunus persica allergic disease" EXACT [] synonym: "Prunus persica caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Prunus persica fruit allergy" EXACT [DOID:0060510] +synonym: "Prunus persica fruit allergy" EXACT [] xref: DOID:0060510 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10523,7 +10523,7 @@ def: "OBSOLETE. A allergy involving a Prunus domestica." [MONDO:patterns/allergy synonym: "allergy of Prunus domestica" EXACT [MONDO:patterns/allergy] synonym: "Prunus domestica allergic disease" EXACT [] synonym: "Prunus domestica caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Prunus domestica fruit allergy" EXACT [DOID:0060511] +synonym: "Prunus domestica fruit allergy" EXACT [] xref: DOID:0060511 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10536,7 +10536,7 @@ def: "OBSOLETE. A allergy involving a Solanum lycopersicum." [MONDO:patterns/all synonym: "allergy of Solanum lycopersicum" EXACT [MONDO:patterns/allergy] synonym: "Solanum lycopersicum allergic disease" EXACT [] synonym: "Solanum lycopersicum caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Solanum lycopersicum fruit allergy" EXACT [DOID:0060512] +synonym: "Solanum lycopersicum fruit allergy" EXACT [] xref: DOID:0060512 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10560,7 +10560,7 @@ def: "OBSOLETE. A allergy involving a Gadus morhua." [MONDO:patterns/allergy] synonym: "allergy of Gadus morhua" EXACT [MONDO:patterns/allergy] synonym: "Gadus morhua allergic disease" EXACT [] synonym: "Gadus morhua caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Gadus morhua fish allergy" EXACT [DOID:0060514] +synonym: "Gadus morhua fish allergy" EXACT [] xref: DOID:0060514 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10573,7 +10573,7 @@ def: "OBSOLETE. A allergy involving a Salmo salar." [MONDO:patterns/allergy] synonym: "allergy of Salmo salar" EXACT [MONDO:patterns/allergy] synonym: "Salmo salar allergic disease" EXACT [] synonym: "Salmo salar caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Salmo salar fish allergy" EXACT [DOID:0060515] +synonym: "Salmo salar fish allergy" EXACT [] xref: DOID:0060515 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10586,7 +10586,7 @@ def: "OBSOLETE. A allergy involving a Cyprinus carpio." [MONDO:patterns/allergy] synonym: "allergy of Cyprinus carpio" EXACT [MONDO:patterns/allergy] synonym: "Cyprinus carpio allergic disease" EXACT [] synonym: "Cyprinus carpio caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Cyprinus carpio fish allergy" EXACT [DOID:0060516] +synonym: "Cyprinus carpio fish allergy" EXACT [] xref: DOID:0060516 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10604,7 +10604,7 @@ name: obsolete rainbow trout allergy def: "OBSOLETE. A allergy involving a Oncorhynchus mykiss." [MONDO:patterns/allergy] synonym: "allergy of Oncorhynchus mykiss" EXACT [MONDO:patterns/allergy] synonym: "Oncorhynchus mykiss allergic disease" EXACT [] -synonym: "Oncorhynchus mykiss allergy" EXACT [DOID:0060518] +synonym: "Oncorhynchus mykiss allergy" EXACT [] synonym: "Oncorhynchus mykiss caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] xref: DOID:0060518 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -10642,7 +10642,7 @@ id: MONDO:0000796 name: obsolete cow milk allergy def: "OBSOLETE. A allergy involving cow mile." [MONDO:patterns/allergy] synonym: "allergy of cow milk based food product" EXACT [MONDO:patterns/allergy] -synonym: "Bos taurus milk allergy" EXACT [DOID:0060521] +synonym: "Bos taurus milk allergy" EXACT [] synonym: "cow milk allergy" EXACT [MONDO:ambiguous] synonym: "cow milk based food product allergic disease" EXACT [] synonym: "obsolete cow milk allergy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -10658,7 +10658,7 @@ id: MONDO:0000797 name: obsolete goat milk allergy def: "OBSOLETE. A allergy involving goat milk." [MONDO:patterns/allergy] synonym: "allergy of goat dairy food product" EXACT [MONDO:patterns/allergy] -synonym: "Capra hircus milk allergy" EXACT [DOID:0060522] +synonym: "Capra hircus milk allergy" EXACT [] synonym: "goat dairy food product allergic disease" EXACT [] xref: DOID:0060522 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -10693,7 +10693,7 @@ name: obsolete brown shrimp allergy def: "OBSOLETE. A allergic disease involving a brown shrimp." [MONDO:patterns/allergy] synonym: "allergy of brown shrimp" EXACT [MONDO:patterns/allergy] synonym: "brown shrimp allergic disease" EXACT [] -synonym: "Farfantepenaeus aztecus allergy" EXACT [DOID:0060525] +synonym: "Farfantepenaeus aztecus allergy" EXACT [] xref: DOID:0060525 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10704,9 +10704,9 @@ id: MONDO:0000801 name: obsolete green mud crab allergy def: "OBSOLETE. A allergic disease involving a green mud crab." [MONDO:patterns/allergy] synonym: "allergy of green mud crab" EXACT [MONDO:patterns/allergy] -synonym: "crab allergy" RELATED [DOID:0060526] +synonym: "crab allergy" RELATED [] synonym: "green mud crab allergic disease" EXACT [] -synonym: "Scylla paramamosain allergy" EXACT [DOID:0060526] +synonym: "Scylla paramamosain allergy" EXACT [] xref: DOID:0060526 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10717,7 +10717,7 @@ id: MONDO:0000802 name: obsolete Indian prawn allergy def: "OBSOLETE. A allergic disease involving a Indian prawn." [MONDO:patterns/allergy] synonym: "allergy of Indian prawn" EXACT [MONDO:patterns/allergy] -synonym: "Fenneropenaeus indicus allergy" EXACT [DOID:0060527] +synonym: "Fenneropenaeus indicus allergy" EXACT [] synonym: "Indian prawn allergic disease" EXACT [] xref: DOID:0060527 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -10730,7 +10730,7 @@ name: obsolete tiger prawn allergy def: "OBSOLETE. A allergy involving a Penaeus monodon." [MONDO:patterns/allergy] synonym: "allergy of Penaeus monodon" EXACT [MONDO:patterns/allergy] synonym: "Penaeus monodon allergic disease" EXACT [] -synonym: "Penaeus monodon allergy" EXACT [DOID:0060528] +synonym: "Penaeus monodon allergy" EXACT [] synonym: "Penaeus monodon caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] xref: DOID:0060528 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -10744,7 +10744,7 @@ def: "OBSOLETE. A allergy involving a Litopenaeus schmitti." [MONDO:patterns/all synonym: "allergy of Litopenaeus schmitti" EXACT [MONDO:patterns/allergy] synonym: "Litopenaeus schmitti allergic disease" EXACT [] synonym: "Litopenaeus schmitti caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Litopenaeus vannamei allergy" EXACT [DOID:0060529] +synonym: "Litopenaeus vannamei allergy" EXACT [] xref: DOID:0060529 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/498" xsd:anyURI @@ -10767,7 +10767,7 @@ name: obsolete horned turban snail allergy def: "OBSOLETE. A allergy involving a Turbo cornutus." [MONDO:patterns/allergy] synonym: "allergy of Turbo cornutus" EXACT [MONDO:patterns/allergy] synonym: "Turbo cornutus allergic disease" EXACT [] -synonym: "Turbo cornutus allergy" EXACT [DOID:0060531] +synonym: "Turbo cornutus allergy" EXACT [] synonym: "Turbo cornutus caused allergic disease" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] xref: DOID:0060531 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -10845,7 +10845,7 @@ synonym: "disease of spine" EXACT [] synonym: "disease of vertebral column" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vertebral column" EXACT [] synonym: "disorder of vertebral column" EXACT [MONDO:patterns/location_top] -synonym: "spinal disease" RELATED [DOID:0060564] +synonym: "spinal disease" RELATED [] synonym: "vertebral column disease" EXACT [MONDO:patterns/location] synonym: "vertebral column disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:0060564 {source="MONDO:equivalentTo"} @@ -10883,28 +10883,28 @@ def: "An acute B-lymphoblastic leukemia occurring in adults." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult B acute lymphoblastic leukaemia" EXACT OMO:0003005 [] -synonym: "adult B acute lymphoblastic leukemia" EXACT [DOID:0060592] +synonym: "adult B acute lymphoblastic leukaemia" EXACT OMO:0003005 [DOID:0060592] +synonym: "adult B acute lymphoblastic leukemia" EXACT [DOID:0060592, NCIT:C9143] synonym: "adult B cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B cell acute lymphoblastic leukemia" EXACT [NCIT:C9143] synonym: "adult B cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "adult B cell acute lymphocytic leukemia" EXACT [NCIT:C9143] synonym: "adult B cell ALL" EXACT [NCIT:C9143] -synonym: "adult B-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] -synonym: "adult B-cell acute lymphoblastic leukemia" EXACT [DOID:0060592] +synonym: "adult B-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [DOID:0060592] +synonym: "adult B-cell acute lymphoblastic leukemia" EXACT [DOID:0060592, NCIT:C9143] synonym: "adult B-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-cell acute lymphocytic leukemia" EXACT [NCIT:C9143] synonym: "adult B-cell ALL" EXACT [NCIT:C9143] synonym: "adult B-cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult B-cell childhood acute lymphoblastic leukemia" EXACT [MONDO:design_pattern] -synonym: "adult B-cell lymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "adult B-cell lymphocytic leukaemia" EXACT OMO:0003005 [DOID:0060592] synonym: "adult B-cell lymphocytic leukemia" EXACT [DOID:0060592] -synonym: "adult B-lymphoblastic leukaemia" EXACT OMO:0003005 [] +synonym: "adult B-lymphoblastic leukaemia" EXACT OMO:0003005 [DOID:0060592] synonym: "adult B-lymphoblastic leukemia" EXACT [DOID:0060592] synonym: "adult precursor B-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult precursor B-lymphoblastic leukemia" EXACT [NCIT:C9143] synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 [] -synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C9143] +synonym: "B acute lymphoblastic leukemia" BROAD [] synonym: "B cell adult acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "B cell adult acute lymphoblastic leukemia" EXACT [NCIT:C9143] synonym: "B cell adult acute lymphocytic leukaemia" EXACT OMO:0003005 [] @@ -10937,8 +10937,8 @@ name: abdominal obesity-metabolic syndrome subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "metabolic syndrome" EXACT [NCIT:C84442] -synonym: "metabolic syndrome X" NARROW [NCIT:C84442] +synonym: "metabolic syndrome" EXACT [ICD10CM:E88.81, NCIT:C84442] +synonym: "metabolic syndrome X" NARROW [] xref: DOID:0060611 {source="MONDO:equivalentTo"} xref: ICD10CM:E88.81 {source="MONDO:equivalentTo"} xref: ICD9:277.7 {source="EFO:0000195"} @@ -10974,7 +10974,7 @@ id: MONDO:0000819 name: anencephaly def: "A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus." [NCIT:C84560] subset: otar {source="MONDO:OTAR"} -synonym: "anencephalus" EXACT [NCIT:C84560] +synonym: "anencephalus" EXACT [icd11.foundation:1292761836, NCIT:C84560] xref: DOID:0060668 {source="MONDO:equivalentTo"} xref: ICD10CM:00.0 {source="DOID:0060668"} xref: icd11.foundation:1292761836 {source="MONDO:equivalentTo"} @@ -10992,12 +10992,12 @@ id: MONDO:0000820 name: cerebral cavernous malformation def: "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur." [NCIT:C84626] subset: otar {source="MONDO:OTAR"} -synonym: "brain cavernous hemangioma" EXACT [Orphanet:164] +synonym: "brain cavernous hemangioma" EXACT [] synonym: "cavernous angiomatous malformations" EXACT [DOID:0060669] -synonym: "CCM" EXACT ABBREVIATION [DOID:0060669] +synonym: "CCM" EXACT ABBREVIATION [] synonym: "cerebral capillary malformations" EXACT [DOID:0060669] -synonym: "cerebral cavernous malformation" EXACT CLINGEN_LABEL [] -synonym: "familial cavernous angioma" RELATED [DOID:0060669] +synonym: "cerebral cavernous malformation" EXACT CLINGEN_LABEL [DOID:0060669, icd11.foundation:916773262, NCIT:C84626] +synonym: "familial cavernous angioma" RELATED [] xref: DOID:0060669 {source="MONDO:equivalentTo"} xref: icd11.foundation:916773262 {source="MONDO:equivalentTo"} xref: MEDGEN:418825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -11030,7 +11030,7 @@ replaced_by: MONDO:0012705 [Term] id: MONDO:0000824 name: congenital diarrhea -synonym: "diarrhea, congenital" EXACT [MONDO:0000117] +synonym: "diarrhea, congenital" EXACT [MONDO:0000117, OMIMPS:214700] xref: DOID:0060774 {source="MONDO:equivalentTo"} xref: OMIMPS:214700 {source="DOID:0060774", source="MONDO:equivalentTo"} is_a: MONDO:0001673 {source="DOID:0060774", source="MONDO:Redundant"} ! diarrheal disease @@ -11060,7 +11060,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:795"} subset: otar {source="MONDO:OTAR"} synonym: "infections, Salmonella" RELATED [MONDO:patterns/infectious_disease_by_agent] -synonym: "rare form of salmonellosis" EXACT [MONDO:0019331] +synonym: "rare form of salmonellosis" EXACT [MONDO:0019331, Orphanet:795] synonym: "Salmonella infection" EXACT [DOID:0060859, MONDO:patterns/infectious_disease_by_agent] xref: DOID:0060859 {source="MONDO:equivalentTo"} xref: ICD10CM:A01.0 {source="Orphanet:795/btnt", source="Orphanet:795"} @@ -11099,7 +11099,7 @@ comment: Editor notes: check onset axioms subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "juvenile-onset Parkinson's disease" RELATED [DOID:0060893] +synonym: "juvenile-onset Parkinson's disease" RELATED [] xref: DOID:0060893 {source="MONDO:equivalentTo"} xref: MEDGEN:155699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C0752105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:155699"} @@ -11130,7 +11130,7 @@ synonym: "blood Clots" EXACT [MESH:D013927] synonym: "clot, blood" EXACT [MESH:D013927] synonym: "Clots, blood" EXACT [MESH:D013927] synonym: "Thromboses" EXACT [MESH:D013927] -synonym: "thrombosis" EXACT [NCIT:C26891] +synonym: "thrombosis" EXACT [DOID:0060903, NCIT:C26891] synonym: "thrombotic disorder" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "thrombus" EXACT [MESH:D013927] xref: DOID:0060903 {source="MONDO:equivalentTo"} @@ -11177,7 +11177,7 @@ replaced_by: MONDO:0005380 id: MONDO:0000836 name: disease of bone structure subset: otar {source="MONDO:OTAR"} -synonym: "bone structure disease" RELATED [DOID:0080010] +synonym: "bone structure disease" RELATED [] xref: DOID:0080010 {source="MONDO:equivalentTo"} xref: ICD10CM:M40-M43 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:M45-M49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -11211,26 +11211,26 @@ id: MONDO:0000839 name: obsolete congenital abnormality def: "OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." [NCIT:C2849] comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. -synonym: "birth defect" EXACT [NCIT:C2849] +synonym: "birth defect" EXACT [] synonym: "CM - congenital malformation" RELATED [] -synonym: "congenital Abnormality" EXACT [NCIT:C2849] +synonym: "congenital Abnormality" EXACT [] synonym: "congenital abnormality" EXACT [] -synonym: "congenital anatomic Abnormality" EXACT [NCIT:C2849] -synonym: "congenital anatomical Abnormality" EXACT [NCIT:C2849] -synonym: "congenital anomalies of fetus" EXACT [NCIT:C2849] -synonym: "congenital anomaly" EXACT [NCIT:C2849] -synonym: "congenital anomaly or birth defect" EXACT [NCIT:C2849] -synonym: "congenital defect" EXACT [NCIT:C2849] -synonym: "congenital defect/deformity" EXACT [NCIT:C2849] -synonym: "congenital deformity" EXACT [NCIT:C2849] -synonym: "congenital malformation" EXACT [NCIT:C2849] -synonym: "defect/deformity, Congenital" EXACT [NCIT:C2849] -synonym: "defect/deformity, congenital" EXACT [NCIT:C2849] -synonym: "deformity/defect, Congenital" EXACT [NCIT:C2849] +synonym: "congenital anatomic Abnormality" EXACT [] +synonym: "congenital anatomical Abnormality" EXACT [] +synonym: "congenital anomalies of fetus" EXACT [] +synonym: "congenital anomaly" EXACT [] +synonym: "congenital anomaly or birth defect" EXACT [] +synonym: "congenital defect" EXACT [] +synonym: "congenital defect/deformity" EXACT [] +synonym: "congenital deformity" EXACT [] +synonym: "congenital malformation" EXACT [] +synonym: "defect/deformity, Congenital" EXACT [] +synonym: "defect/deformity, congenital" EXACT [] +synonym: "deformity/defect, Congenital" EXACT [] synonym: "fetal developmental abnormality" RELATED [] synonym: "fetal malformation" RELATED [] synonym: "physical disorder" EXACT [] -synonym: "SCONG" EXACT ABBREVIATION [NCIT:C2849] +synonym: "SCONG" EXACT ABBREVIATION [] xref: DOID:0080015 {source="MONDO:obsoleteEquivalent"} xref: ICD9:759.89 xref: ICD9:759.9 @@ -11295,7 +11295,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:249"} subset: orphanet_rare {source="Orphanet:249"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fibrous dysplasia of bone" EXACT [NCIT:C34609] +synonym: "fibrous dysplasia of bone" EXACT [icd11.foundation:1704766818, NCIT:C34609, Orphanet:249] xref: DOID:0080031 {source="MONDO:equivalentTo"} xref: GARD:6444 {source="MONDO:GARD"} xref: ICD10CM:Q78.1 {source="Orphanet:249", source="Orphanet:249/e", source="Orphanet:249/specific"} @@ -11407,7 +11407,7 @@ subset: gard_rare {source="GARD:10787", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:645202"} subset: rare synonym: "closed spinal dysraphism" EXACT [Orphanet:645202] -synonym: "spina bifida occulta" EXACT [MONDO:ambiguous] +synonym: "spina bifida occulta" EXACT [DOID:0080073, icd11.foundation:449489594, MONDO:ambiguous, NCIT:C101044, Orphanet:645202] synonym: "spina bifida occulta (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0080073 {source="MONDO:equivalentTo"} xref: GARD:10787 {source="MONDO:GARD"} @@ -11452,15 +11452,15 @@ subset: orphanet_rare {source="Orphanet:2598"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mitochondrial myopathy and sideroblastic anaemia" EXACT OMO:0003005 [] -synonym: "mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:0010892] +synonym: "mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:0010892, Orphanet:2598] synonym: "MLASA" EXACT ABBREVIATION [Orphanet:2598] -synonym: "MSA" EXACT ABBREVIATION [Orphanet:2598] +synonym: "MSA" EXACT ABBREVIATION [] synonym: "myopathy with lactic acidosis and sideroblastic anaemia" RELATED OMO:0003005 [] synonym: "myopathy with lactic acidosis and sideroblastic anemia" RELATED [GARD:0003885] synonym: "myopathy, lactic acidosis and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "myopathy, lactic acidosis and sideroblastic anemia" EXACT [Orphanet:2598] synonym: "myopathy, lactic acidosis, and siderblastic anaemia" EXACT OMO:0003005 [] -synonym: "myopathy, lactic acidosis, and siderblastic anemia" EXACT [OMIMPS:600462] +synonym: "myopathy, lactic acidosis, and siderblastic anemia" EXACT [] synonym: "sideroblastic anaemia and mitochondrial myopathy" RELATED OMO:0003005 [] synonym: "sideroblastic anemia and mitochondrial myopathy" RELATED [GARD:0003885] xref: DOID:0080099 {source="MONDO:equivalentTo"} @@ -11519,7 +11519,7 @@ replaced_by: MONDO:0017415 [Term] id: MONDO:0000868 name: obsolete mitochondrial DNA depletion syndrome 6 -synonym: "mitochondrial DNA depletion syndrome type 6" EXACT [DOID:0080125, MONDORULE:1] +synonym: "mitochondrial DNA depletion syndrome type 6" EXACT [MONDORULE:1] synonym: "MTDPS6" EXACT ABBREVIATION [] is_obsolete: true consider: MONDO:0009747 @@ -11539,8 +11539,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute lymphoblastic leukaemia (ALL)" BROAD OMO:0003005 [] -synonym: "acute lymphoblastic leukemia (ALL)" BROAD [NCIT:C3168] -synonym: "childhood acute lymphoblastic leukemia" EXACT [NCIT:C3168] +synonym: "acute lymphoblastic leukemia (ALL)" BROAD [] +synonym: "childhood acute lymphoblastic leukemia" EXACT [DOID:0080144, NCIT:C3168] synonym: "childhood acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute lymphocytic leukemia" EXACT [DOID:0080144, NCIT:C3168] synonym: "childhood acute lymphogenous leukaemia" EXACT OMO:0003005 [] @@ -11588,12 +11588,12 @@ synonym: "childhood T acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood T acute lymphoblastic leukemia" EXACT [NCIT:C7953] synonym: "childhood T-ALL" EXACT [NCIT:C7953] synonym: "childhood T-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] -synonym: "childhood T-cell acute lymphoblastic leukemia" EXACT [NCIT:C7953] +synonym: "childhood T-cell acute lymphoblastic leukemia" EXACT [DOID:0080145, NCIT:C7953] synonym: "T acute lymphoblastic leukaemia" BROAD OMO:0003005 [] -synonym: "T acute lymphoblastic leukemia" BROAD [NCIT:C7953] +synonym: "T acute lymphoblastic leukemia" BROAD [] synonym: "T-cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell childhood acute lymphoblastic leukemia" EXACT [NCIT:C7953] -synonym: "T-cell childhood acute lymphocytic leukemia" EXACT [NCIT:C7953] +synonym: "T-cell childhood acute lymphocytic leukemia" EXACT [DOID:0080145, NCIT:C7953] synonym: "T-cell childhood ALL" EXACT [NCIT:C7953] synonym: "T-cell paediatric acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell paediatric acute lymphocytic leukaemia" EXACT OMO:0003005 [] @@ -11619,7 +11619,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 [] -synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C9140] +synonym: "B acute lymphoblastic leukemia" BROAD [] synonym: "B cell childhood acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "B cell childhood acute lymphoblastic leukemia" EXACT [NCIT:C9140] synonym: "B cell childhood acute lymphocytic leukaemia" EXACT OMO:0003005 [] @@ -11670,7 +11670,7 @@ def: "A lymphoma composed of immature small to medium-sized precursor lymphoid c subset: gard_rare {source="GARD:3329", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lymphoblastic lymphoma" EXACT [NCIT:C9360] +synonym: "lymphoblastic lymphoma" EXACT [DOID:0080147, NCIT:C9360] synonym: "lymphoma, lymphoblastic" RELATED [GARD:0003329] synonym: "lymphoma, lymphoblastic, malignant" EXACT [NCIT:C9360] synonym: "precursor cell lymphoblastic lymphoma" EXACT [NCIT:C9360] @@ -11713,11 +11713,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute monocytic leukaemia" BROAD OMO:0003005 [] synonym: "acute monocytic leukaemia of adults" EXACT OMO:0003005 [] -synonym: "acute monocytic leukemia" BROAD [NCIT:C8263] +synonym: "acute monocytic leukemia" BROAD [] synonym: "acute monocytic leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "adult acute differentiated monocytic leukaemia (M5b)" EXACT OMO:0003005 [] synonym: "adult acute differentiated monocytic leukemia (M5b)" EXACT [NCIT:C8263] -synonym: "adult acute monocytic leukemia" EXACT [NCIT:C8263] +synonym: "adult acute monocytic leukemia" EXACT [DOID:0080149, NCIT:C8263] synonym: "M5b adult acute differentiated monocytic leukaemia" EXACT OMO:0003005 [] synonym: "M5b adult acute differentiated monocytic leukemia" EXACT [NCIT:C8263] synonym: "M5b adult acute leukaemia" EXACT OMO:0003005 [] @@ -11757,9 +11757,9 @@ subset: rare synonym: "CMV retinitis" EXACT [DOID:0080160] synonym: "Cytomegaloviral Retinitis" EXACT [NCIT:C50521] synonym: "Cytomegalovirus caused retinitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Cytomegalovirus retinitis" EXACT [] -synonym: "cytomegalovirus retinitis" EXACT [] -synonym: "Retinitis, Cytomegaloviral" EXACT [NCIT:C50521] +synonym: "Cytomegalovirus retinitis" EXACT [DOID:0080160, NCIT:C50521] +synonym: "cytomegalovirus retinitis" EXACT [DOID:0080160, NCIT:C50521] +synonym: "Retinitis, Cytomegaloviral" EXACT [] xref: DOID:0080160 {source="MONDO:equivalentTo"} xref: EFO:1001302 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9531 {source="MONDO:GARD"} @@ -11854,7 +11854,7 @@ def: "Inflammation of the mucous membranes lining the gastrointestinal tract." [ synonym: "gastrointestinal system mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "gastrointestinal system mucosaitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of gastrointestinal system mucosa" EXACT [] -synonym: "mucositis" RELATED [DOID:0080178] +synonym: "mucositis" RELATED [] xref: DOID:0080178 {source="MONDO:equivalentTo"} xref: ICD9:538 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -11931,7 +11931,7 @@ def: "A rare, invasive colon adenocarcinoma characterized by the presence of she subset: otar {source="MONDO:OTAR"} synonym: "colon medullary carcinoma" EXACT [NCIT:C60641] synonym: "medullary carcinoma of the colon" RELATED [ONCOTREE:CMC] -synonym: "medullary colon carcinoma" RELATED [DOID:0080183] +synonym: "medullary colon carcinoma" RELATED [] xref: DOID:0080183 {source="MONDO:equivalentTo"} xref: MEDGEN:363630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C60641 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -11948,7 +11948,7 @@ name: mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma def: "A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells." [NCIT:C7270] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "indeterminate bronchioloalveolar carcinoma" EXACT [DOID:0080184] +synonym: "indeterminate bronchioloalveolar carcinoma" EXACT [DOID:0080184, NCIT:C7270] synonym: "mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma" EXACT [DOID:0080184] synonym: "mixed mucinous and non-mucinous bronchioloalveolar carcinoma" EXACT [NCIT:C7270] synonym: "mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma" EXACT [NCIT:C7270] @@ -12042,20 +12042,20 @@ subset: ordo_disorder {source="Orphanet:1496"} subset: orphanet_rare {source="Orphanet:1496"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACCPN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218000] +synonym: "ACCPN" RELATED ABBREVIATION [MONDO:Lexical] synonym: "agenesis of corpus callosum with neuronopathy" RELATED [GARD:0001537] synonym: "agenesis of corpus callosum with peripheral neuropathy" RELATED [GARD:0001537] synonym: "agenesis of corpus callosum with polyneuropathy" RELATED [GARD:0001537] -synonym: "agenesis of the corpus callosum with peripheral neuropathy" EXACT [DOID:0060600, MONDO:Lexical, OMIM:218000] -synonym: "Andermann syndrome" EXACT [DOID:0060600, DOID:0090003, OMIM:218000, Orphanet:1496] -synonym: "Charlevoix disease" EXACT [DOID:0060600, DOID:0090003, OMIM:218000, Orphanet:1496] +synonym: "agenesis of the corpus callosum with peripheral neuropathy" EXACT [DOID:0090003, MONDO:Lexical, OMIM:218000] +synonym: "Andermann syndrome" EXACT [DOID:0090003, OMIM:218000, Orphanet:1496] +synonym: "Charlevoix disease" EXACT [DOID:0090003, OMIM:218000, Orphanet:1496] synonym: "corpus callosum agenesis neuronopathy" RELATED [GARD:0001537] -synonym: "corpus callosum agenesis-neuronopathy syndrome" EXACT [DOID:0060600, DOID:0090003] -synonym: "corpus callosum, agenesis of, with neuronopathy" RELATED [OMIM:218000] +synonym: "corpus callosum agenesis-neuronopathy syndrome" EXACT [DOID:0090003, Orphanet:1496] +synonym: "corpus callosum, agenesis of, with neuronopathy" RELATED [] synonym: "hereditary motor and sensory neuropathy with agenesis of the corpus callosum" EXACT [MONDO:0009023] synonym: "HMSN/ACC" RELATED [GARD:0001537] -synonym: "peripheral neuropathy associated with agenesis of the corpus callosum" EXACT [DOID:0060600] -synonym: "polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum" RELATED [OMIM:218000] +synonym: "peripheral neuropathy associated with agenesis of the corpus callosum" EXACT [] +synonym: "polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum" RELATED [] xref: DOID:0060600 {source="MONDO:equivalentObsolete"} xref: DOID:0090003 {source="MONDO:equivalentTo"} xref: GARD:1537 {source="MONDO:GARD"} @@ -12090,11 +12090,11 @@ synonym: "DYT-SGCE" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "DYT11" RELATED ABBREVIATION [MESH:C536096] synonym: "Hereditary essential myoclonus" RELATED [MESH:C536096] synonym: "hereditary essential myoclonus" EXACT [Orphanet:36899] -synonym: "myoclonic dystonia" EXACT [DOID:0090033, MESH:C536096] +synonym: "myoclonic dystonia" EXACT [DOID:0090033, MESH:C536096, Orphanet:36899] synonym: "myoclonus, hereditary essential" RELATED [MESH:C536096] synonym: "myoclonus-Dystonia" RELATED [MESH:C536096] synonym: "myoclonus-dystonia" RELATED [GARD:0007139] -synonym: "myoclonus-dystonia syndrome" EXACT [MESH:C536096] +synonym: "myoclonus-dystonia syndrome" EXACT [MESH:C536096, Orphanet:36899] xref: DOID:0090033 {source="MONDO:equivalentTo"} xref: GARD:7139 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="Orphanet:36899/attributed", source="Orphanet:36899/ntbt"} @@ -12113,7 +12113,7 @@ name: complex cortical dysplasia with other brain malformations subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} synonym: "CDCBM" EXACT ABBREVIATION [DOID:0090131] -synonym: "complex cortical dysplasia with other brain malformations" EXACT CLINGEN_LABEL [] +synonym: "complex cortical dysplasia with other brain malformations" EXACT CLINGEN_LABEL [DOID:0090131] synonym: "cortical dysplasia, complex, with other brain malformations" EXACT [OMIMPS:614039] xref: DOID:0090131 {source="MONDO:equivalentTo"} xref: OMIMPS:614039 {source="DOID:0090131", source="MONDO:equivalentTo"} @@ -12149,11 +12149,11 @@ def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "arrhythmogenic right ventricular cardiomyopathy 13" EXACT [DOID:0110084] +synonym: "arrhythmogenic right ventricular cardiomyopathy 13" EXACT [DOID:0110084, OMIM:615616] synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3" EXACT [MONDO:design_pattern] -synonym: "arrhythmogenic right ventricular dysplasia type 13" EXACT [DOID:0110084, MONDORULE:2] +synonym: "arrhythmogenic right ventricular dysplasia type 13" EXACT [MONDORULE:2] synonym: "arrhythmogenic right ventricular dysplasia, familial, 13" EXACT [MONDO:0014279, MONDO:Lexical, OMIM:615616] -synonym: "arrhythmogenic right ventricular dysplasia, familial, type 13" EXACT [MONDORULE:2, OMIM:615616] +synonym: "arrhythmogenic right ventricular dysplasia, familial, type 13" EXACT [MONDORULE:2] synonym: "ARVC13" EXACT ABBREVIATION [DOID:0110084] synonym: "ARVD13" EXACT ABBREVIATION [DOID:0110084, MONDO:Lexical, OMIM:615616] synonym: "CTNNA3 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -12176,12 +12176,12 @@ def: "A Bartter disease that has material basis in simultaneous mutation in both subset: gard_rare {source="GARD:15612", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BARTS4B" EXACT ABBREVIATION [DOID:0110146] -synonym: "Bartter disease type 4B" EXACT CLINGEN_LABEL [] -synonym: "Bartter syndrome, infantile, with sensorineural deafness" RELATED [OMIM:613090] -synonym: "Bartter syndrome, type 4B" EXACT [MONDO:0013126, OMIM:613090] +synonym: "BARTS4B" EXACT ABBREVIATION [DOID:0110146, OMIM:613090] +synonym: "Bartter disease type 4B" EXACT CLINGEN_LABEL [DOID:0110146] +synonym: "Bartter syndrome, infantile, with sensorineural deafness" RELATED [] +synonym: "Bartter syndrome, type 4B" EXACT [MONDO:0013126] synonym: "Bartter syndrome, type 4b, digenic" EXACT [DOID:0110146] -synonym: "Bartter syndrome, type 4B, neonatal, with sensorineural deafness" RELATED [OMIM:613090] +synonym: "Bartter syndrome, type 4B, neonatal, with sensorineural deafness" RELATED [] synonym: "neonatal Bartter syndrome type 4B with sensorineural deafness" EXACT [DOID:0110146] xref: DOID:0110146 {source="MONDO:equivalentTo"} xref: GARD:15612 {source="MONDO:GARD"} @@ -12201,9 +12201,9 @@ def: "A retinitis pigmentosa that has material basis in variation in the chromos subset: gard_rare {source="GARD:10377", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 6" EXACT [MONDO:Lexical, OMIM:312612] -synonym: "retinitis pigmentosa type 6" EXACT [DOID:0110413, MONDORULE:1] -synonym: "retinitis pigmentosa, X-linked recessive, 6" RELATED [OMIM:312612] +synonym: "retinitis pigmentosa 6" EXACT [DOID:0110413, MONDO:Lexical, OMIM:312612] +synonym: "retinitis pigmentosa type 6" EXACT [MONDORULE:1] +synonym: "retinitis pigmentosa, X-linked recessive, 6" RELATED [] synonym: "RP 6" RELATED [GARD:0010377] synonym: "RP6" EXACT ABBREVIATION [DOID:0110413, MONDO:0010724, MONDO:Lexical, OMIM:312612] xref: DOID:0110413 {source="MONDO:equivalentTo"} @@ -12222,12 +12222,12 @@ id: MONDO:0000911 name: obsolete dilated cardiomyopathy 1T def: "OBSOLETE. Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene." [MONDO:patterns/disease_series_by_gene] comment: OMIM has integrated the concept into another record, as CMD1T was thought to be caused by mutations in TMPO. Those variants are too frequent and so CMD1T no longer exists. -synonym: "cardiomyopathy, dilated, 1T" EXACT [MONDO:0013399, MONDO:Lexical, OMIM:613740] -synonym: "cardiomyopathy, dilated, type 1T" EXACT [MONDORULE:4, OMIM:613740] -synonym: "CMD1T" EXACT ABBREVIATION [DOID:0110452, MONDO:Lexical, OMIM:613740] -synonym: "dilated cardiomyopathy type 1T" EXACT [DOID:0110452, MONDORULE:4] +synonym: "cardiomyopathy, dilated, 1T" EXACT [MONDO:0013399, MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1T" EXACT [MONDORULE:4] +synonym: "CMD1T" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "dilated cardiomyopathy type 1T" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in TMPO" EXACT [MONDO:design_pattern] -synonym: "moved to 115200" RELATED [OMIM:613740] +synonym: "moved to 115200" RELATED [] synonym: "TMPO familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110452 {source="MONDO:obsoleteEquivalent"} xref: MESH:C566052 {source="MONDO:obsoleteEquivalent"} @@ -12242,12 +12242,12 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22585", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 5" NARROW [DOID:0110507] -synonym: "autosomal recessive nonsyndromic deafness 5" NARROW [OMIM:600792] -synonym: "autosomal recessive nonsyndromic deafness type 5" NARROW [DOID:0110507, MONDORULE:1] -synonym: "deafness, autosomal recessive 5" NARROW [MONDO:Lexical, OMIM:600792, OMIM:genemap2] -synonym: "DFNB5" NARROW ABBREVIATION [DOID:0110507, MONDO:0010934, MONDO:Lexical, OMIM:600792] -synonym: "neurosensory nonsyndromic recessive deafness 5" NARROW [OMIM:600792] +synonym: "autosomal recessive deafness 5" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 5" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 5" NARROW [MONDORULE:1] +synonym: "deafness, autosomal recessive 5" NARROW [MONDO:Lexical] +synonym: "DFNB5" NARROW ABBREVIATION [MONDO:0010934, MONDO:Lexical] +synonym: "neurosensory nonsyndromic recessive deafness 5" NARROW [] xref: DOID:0110507 {source="MONDO:equivalentTo"} xref: GARD:22585 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110507"} @@ -12268,10 +12268,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hereditary spherocytosis 2" EXACT [DOID:0110917] synonym: "hereditary spherocytosis caused by mutation in SPTB" EXACT [MONDO:design_pattern] -synonym: "hereditary spherocytosis type 2" EXACT [MONDO:0014721] +synonym: "hereditary spherocytosis type 2" EXACT [DOID:0110917, MONDO:0014721] synonym: "HS2" EXACT ABBREVIATION [DOID:0110917] synonym: "SPH2" EXACT ABBREVIATION [DOID:0110917, OMIM:616649] -synonym: "spherocytosis, hereditary, 2" RELATED [OMIM:616649] +synonym: "spherocytosis, hereditary, 2" RELATED [] synonym: "spherocytosis, type 2" EXACT [OMIM:616649] synonym: "SPTB hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110917 {source="MONDO:equivalentTo"} @@ -12294,19 +12294,19 @@ subset: ordo_disorder {source="Orphanet:136"} subset: orphanet_rare {source="Orphanet:136"} subset: rare synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" EXACT [DOID:0111035] -synonym: "CADASIL" EXACT ABBREVIATION [NORD:883, OMIM:125310, Orphanet:136] -synonym: "CADASIL 1" EXACT [OMIM:125310] +synonym: "CADASIL" EXACT ABBREVIATION [NCIT:C84606, NORD:883, OMIM:125310, Orphanet:136] +synonym: "CADASIL 1" EXACT [DOID:0111035] synonym: "CADASIL syndrome" EXACT [NCIT:C84606] -synonym: "CADASIL type 1" EXACT [DOID:0111035, MONDORULE:1] +synonym: "CADASIL type 1" EXACT [MONDORULE:1] synonym: "CADASIL1" EXACT ABBREVIATION [OMIM:125310] synonym: "CASIL" EXACT ABBREVIATION [OMIM:125310] synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" RELATED [GARD:0001049] -synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1" EXACT [OMIM:125310, OMIM:genemap2] +synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1" EXACT [] synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1" EXACT CLINGEN_LABEL [OMIM:125310] -synonym: "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" BROAD [DOID:13945, Orphanet:136] -synonym: "dementia, hereditary multi-infarct type" EXACT [OMIM:125310] +synonym: "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" BROAD [] +synonym: "dementia, hereditary multi-infarct type" EXACT [] synonym: "familial vascular leukoencephalopathy" RELATED [GARD:0001049] -synonym: "hereditary multi-infarct dementia" EXACT [DOID:13945, Orphanet:136] +synonym: "hereditary multi-infarct dementia" EXACT [Orphanet:136] xref: DOID:0111035 {source="MONDO:equivalentTo"} xref: GARD:1049 {source="MONDO:GARD"} xref: ICD10CM:F01.1 {source="Orphanet:136", source="Orphanet:136/attributed", source="Orphanet:136/ntbt", source="DOID:0111035"} @@ -12404,10 +12404,10 @@ synonym: "malignant neoplasm of ampulla of Vater" EXACT [NCIT:C3536] synonym: "malignant neoplasm of hepatopancreatic ampulla" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the ampulla of Vater" EXACT [NCIT:C3536] synonym: "malignant tumor of ampulla of Vater" EXACT [NCIT:C3536] -synonym: "malignant tumor of ampulla of vater" EXACT [DOID:10020] +synonym: "malignant tumor of ampulla of vater" EXACT [NCIT:C3536] synonym: "malignant tumor of the ampulla of Vater" EXACT [NCIT:C3536] -synonym: "malignant tumour of ampulla of Vater" EXACT OMO:0003005 [] -synonym: "malignant tumour of ampulla of vater" EXACT OMO:0003005 [] +synonym: "malignant tumour of ampulla of Vater" EXACT OMO:0003005 [DOID:10020] +synonym: "malignant tumour of ampulla of vater" EXACT OMO:0003005 [DOID:10020] synonym: "malignant tumour of the ampulla of Vater" EXACT OMO:0003005 [] xref: DOID:10020 {source="MONDO:equivalentTo"} xref: ICD10CM:C24.1 {source="DOID:10020"} @@ -12431,10 +12431,10 @@ def: "A primary or metastatic malignant neoplasm that affects the duodenum. Repr subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of duodenum" EXACT [DOID:10021, MONDO:patterns/cancer, NCIT:C4803] +synonym: "cancer of duodenum" EXACT [DOID:10021, MONDO:patterns/cancer] synonym: "duodenal cancer" EXACT [DOID:10021] -synonym: "duodenal neoplasm" BROAD EXCLUDE [DOID:10021] -synonym: "duodenum cancer" EXACT [MONDO:patterns/location] +synonym: "duodenal neoplasm" BROAD EXCLUDE [] +synonym: "duodenum cancer" EXACT [DOID:10021, MONDO:patterns/location] synonym: "malignant duodenal neoplasm" EXACT [NCIT:C9328] synonym: "malignant duodenal tumor" EXACT [NCIT:C9328] synonym: "malignant duodenal tumour" EXACT OMO:0003005 [] @@ -12504,13 +12504,13 @@ id: MONDO:0000922 name: pelvic inflammatory disease def: "Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection." [NCIT:C3889] subset: otar {source="MONDO:OTAR"} -synonym: "disease (PID), pelvic inflammatory" RELATED [NCIT:C3889] -synonym: "inflammatory disease (PID), pelvic" RELATED [NCIT:C3889] -synonym: "pelvic infection" RELATED [NCIT:C3889] -synonym: "pelvic inflammatory disease" EXACT [NCIT:C3889] -synonym: "pelvic inflammatory disease, (PID)" RELATED [NCIT:C3889] -synonym: "PID" EXACT ABBREVIATION [DOID:1003] -synonym: "PID, pelvic inflammatory disease" RELATED [NCIT:C3889] +synonym: "disease (PID), pelvic inflammatory" RELATED [] +synonym: "inflammatory disease (PID), pelvic" RELATED [] +synonym: "pelvic infection" RELATED [] +synonym: "pelvic inflammatory disease" EXACT [DOID:1003, NCIT:C3889] +synonym: "pelvic inflammatory disease, (PID)" RELATED [] +synonym: "PID" EXACT ABBREVIATION [DOID:1003, NCIT:C3889] +synonym: "PID, pelvic inflammatory disease" RELATED [] xref: DOID:1003 {source="MONDO:equivalentTo"} xref: EFO:1001388 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:N70-N77 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1003", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -12545,9 +12545,10 @@ id: MONDO:0000923 name: interstitial emphysema def: "Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "interstitial emphysema of lung" EXACT [NCIT:C34571] -synonym: "pie" EXACT [NCIT:C34571] -synonym: "pulmonary interstitial emphysema" EXACT [NCIT:C34571] +synonym: "interstitial emphysema of lung" EXACT [icd11.foundation:2008095771, NCIT:C34571] +synonym: "PIE" EXACT ABBREVIATION [NCIT:C34571] +synonym: "pie" EXACT [] +synonym: "pulmonary interstitial emphysema" EXACT [DOID:10030, NCIT:C34571] xref: DOID:10030 {source="MONDO:equivalentTo"} xref: ICD10CM:J98.2 {source="MONDO:equivalentTo", source="DOID:10030"} xref: icd11.foundation:2008095771 {source="MONDO:equivalentTo"} @@ -12623,7 +12624,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "eyelid melanoma" EXACT [NCIT:C4358] synonym: "eyelid melanoma (disease)" EXACT [MONDO:patterns/location] -synonym: "malignant eyelid melanoma" EXACT [NCIT:C4358] +synonym: "malignant eyelid melanoma" EXACT [DOID:10040, NCIT:C4358] synonym: "malignant melanoma of eyelid" EXACT [NCIT:C4358] synonym: "malignant melanoma of the eyelid" EXACT [NCIT:C4358] synonym: "melanoma (disease) of eyelid" EXACT [] @@ -12669,8 +12670,8 @@ synonym: "nodular cutaneous (skin) melanoma" EXACT [NCIT:C4225] synonym: "nodular malignant melanoma of skin" EXACT [NCIT:C4225] synonym: "nodular malignant melanoma of the skin" EXACT [NCIT:C4225] synonym: "nodular malignant skin melanoma" EXACT [NCIT:C4225] -synonym: "nodular melanoma" EXACT [NCIT:C4225] -synonym: "nodular melanoma (morphologic abnormality)" EXACT [DOID:10047] +synonym: "nodular melanoma" EXACT [DOID:10047] +synonym: "nodular melanoma (morphologic abnormality)" EXACT [] xref: DOID:10047 {source="MONDO:equivalentTo"} xref: EFO:0008515 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8721/3 {source="NCIT:C4225"} @@ -12689,7 +12690,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of endometrium" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of endometrium" EXACT [] synonym: "disorder of endometrium" EXACT [MONDO:patterns/location_top] -synonym: "endometrial disorder" EXACT [] +synonym: "endometrial disorder" EXACT [NCIT:C3504] synonym: "endometrium disease" EXACT [MONDO:patterns/location] synonym: "endometrium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:1005 {source="MONDO:equivalentTo"} @@ -12738,7 +12739,7 @@ id: MONDO:0000934 name: laryngeal leiomyoma def: "A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6027] synonym: "laryngeal leiomyoma" EXACT [NCIT:C6027] -synonym: "larynx leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6027] +synonym: "larynx leiomyoma" EXACT [DOID:10070, MONDO:patterns/location, NCIT:C6027] synonym: "leiomyoma of larynx" EXACT [NCIT:C6027] synonym: "leiomyoma of the larynx" EXACT [NCIT:C6027] xref: DOID:10070 {source="MONDO:equivalentTo"} @@ -12756,7 +12757,7 @@ name: larynx squamous papilloma def: "A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare." [NCIT:C7742] synonym: "laryngeal papilloma" EXACT [NCIT:C7742] synonym: "larynx papilloma" EXACT [NCIT:C7742] -synonym: "larynx squamous papilloma" EXACT [MONDO:patterns/location] +synonym: "larynx squamous papilloma" EXACT [DOID:10071, MONDO:patterns/location] synonym: "papilloma of larynx" EXACT [NCIT:C7742] synonym: "papilloma of the larynx" EXACT [NCIT:C7742] synonym: "squamous papilloma of larynx" EXACT [NCIT:C7742] @@ -12820,7 +12821,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:157 ! Treponema id: MONDO:0000938 name: gastric leiomyoma def: "A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT)." [NCIT:C3876] -synonym: "gastric leiomyoma" EXACT [NCIT:C3876] +synonym: "gastric leiomyoma" EXACT [DOID:10087, NCIT:C3876] synonym: "leiomyoma of stomach" EXACT [NCIT:C3876] synonym: "leiomyoma of the stomach" EXACT [DOID:10087, NCIT:C3876] synonym: "stomach leiomyoma" EXACT [MONDO:patterns/location] @@ -12901,7 +12902,7 @@ def: "A non-neoplastic or neoplastic disorder that affects the cornea. Represent subset: otar {source="MONDO:OTAR"} synonym: "cornea disease" EXACT [MONDO:patterns/location] synonym: "cornea disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "corneal disease" EXACT [NCIT:C26731] +synonym: "corneal disease" EXACT [DOID:10124, NCIT:C26731] synonym: "corneal disorder" EXACT [NCIT:C26731] synonym: "disease of cornea" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of cornea" EXACT [] @@ -12970,8 +12971,8 @@ id: MONDO:0000945 name: venous insufficiency def: "Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle." [MESH:D014689] subset: otar {source="MONDO:OTAR"} -synonym: "peripheral venous insufficiency" NARROW [DOID:10128] -synonym: "venous insufficiency" EXACT [MONDO:ambiguous] +synonym: "peripheral venous insufficiency" NARROW [] +synonym: "venous insufficiency" EXACT [DOID:10128, MONDO:ambiguous] synonym: "venous insufficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10128 {source="MONDO:equivalentTo"} xref: HP:0005293 {source="MONDO:otherHierarchy"} @@ -12991,7 +12992,7 @@ name: psychologic vaginismus def: "Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause." [NCIT:C35113] synonym: "functional vaginismus" EXACT [DOID:10131] synonym: "non-organic vaginismus" EXACT [DOID:10131] -synonym: "psychogenic vaginismus" EXACT [DOID:10131, NCIT:C35113] +synonym: "psychogenic vaginismus" EXACT [DOID:10131] xref: DOID:10131 {source="MONDO:equivalentTo"} xref: ICD10CM:F52.5 {source="DOID:10131"} xref: ICD9:306.51 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10131"} @@ -13027,7 +13028,7 @@ disjoint_from: MONDO:0002134 ! physiological sexual disorder id: MONDO:0000948 name: xerophthalmia def: "Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma." [NCIT:P378] -synonym: "conjunctival xerosis" EXACT [DOID:10138, ICD9CM:372.53] +synonym: "conjunctival xerosis" EXACT [DOID:10138, ICD9CM:372.53, NCIT:C34503] xref: DOID:10138 {source="MONDO:equivalentTo"} xref: ICD10CM:E50.7 {source="DOID:10138"} xref: ICD10CM:H04.12 {source="DOID:10138"} @@ -13061,7 +13062,7 @@ is_a: MONDO:0006170 {source="DOID:10139"} ! conjunctival disorder id: MONDO:0000950 name: asthenopia def: "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches." [MESH:D001248] -synonym: "accommodative strain" EXACT [DOID:10141] +synonym: "accommodative strain" EXACT [] xref: DOID:10141 {source="MONDO:equivalentObsolete"} xref: ICD10CM:H53.14 {source="DOID:10141"} xref: MEDGEN:2108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -13081,11 +13082,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lymphoma of the Thymus" EXACT [NCIT:C6451] synonym: "lymphoma of Thymus" EXACT [NCIT:C6451] -synonym: "lymphoma of thymus" EXACT [] +synonym: "lymphoma of thymus" EXACT [NCIT:C6451] synonym: "primary thymic lymphoma" EXACT [NCIT:C6451] synonym: "thymic lymphoma" EXACT [MONDO:0006057, NCIT:C6451] -synonym: "Thymus lymphoma" EXACT [NCIT:C6451] -synonym: "thymus lymphoma" EXACT [MONDO:patterns/location] +synonym: "Thymus lymphoma" EXACT [DOID:10146, NCIT:C6451] +synonym: "thymus lymphoma" EXACT [DOID:10146, MONDO:patterns/location, NCIT:C6451] xref: DOID:10146 {source="MONDO:equivalentTo"} xref: EFO:1000054 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:277818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -13105,7 +13106,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cancer of hindlimb long bone" EXACT [MONDO:patterns/cancer] synonym: "hindlimb long bone cancer" EXACT [MONDO:patterns/location] -synonym: "long bones of lower limb cancer" RELATED [DOID:10149] +synonym: "long bones of lower limb cancer" RELATED [] synonym: "malignant hindlimb long bone neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of hindlimb long bone" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of long bones of leg" EXACT [DOID:10149] @@ -13155,7 +13156,7 @@ synonym: "cancer of Meckel's diverticulum" EXACT [MONDO:patterns/cancer] synonym: "malignant Meckel's diverticulum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of Meckel's diverticulum" EXACT [DOID:10152, MONDO:patterns/cancer] synonym: "Meckel diverticulum cancer" EXACT [DOID:10152] -synonym: "Meckel's diverticulum cancer" EXACT [MONDO:patterns/location] +synonym: "Meckel's diverticulum cancer" EXACT [DOID:10152, MONDO:patterns/location] xref: DOID:10152 {source="MONDO:equivalentTo"} xref: ICD9:152.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10152"} xref: MEDGEN:509288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -13174,8 +13175,8 @@ def: "A malignant neoplasm involving the ileum" [https://orcid.org/0000-0002-660 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cancer of ileum" EXACT [MONDO:patterns/cancer] -synonym: "ileal neoplasm" RELATED EXCLUDE [DOID:10153] -synonym: "ileum cancer" EXACT [MONDO:patterns/location] +synonym: "ileal neoplasm" RELATED EXCLUDE [] +synonym: "ileum cancer" EXACT [DOID:10153, MONDO:patterns/location] synonym: "malignant ileum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of ileum" EXACT [DOID:10153, ICD9CM:152.2, MONDO:patterns/cancer] xref: DOID:10153 {source="MONDO:equivalentTo"} @@ -13220,7 +13221,7 @@ synonym: "malignant tumour of the small bowel" EXACT OMO:0003005 [] synonym: "malignant tumour of the small intestine" EXACT OMO:0003005 [] synonym: "small bowel tumors" RELATED [GARD:0009385] synonym: "small bowel tumours" RELATED OMO:0003005 [] -synonym: "small intestine cancer" EXACT [MONDO:patterns/location] +synonym: "small intestine cancer" EXACT [DOID:10154, MONDO:patterns/location] xref: DOID:10154 {source="MONDO:equivalentTo"} xref: GARD:9385 {source="MONDO:GARD"} xref: ICD10CM:C17 {source="DOID:10154"} @@ -13261,9 +13262,9 @@ name: neuroretinitis def: "Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina." [http://eyewiki.aao.org/Neuroretinitis] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "focal retinitis and retinochoroiditis, juxtapapillary" NARROW [DOID:10176, ICD9CM:363.05] -synonym: "Juxtapapillary focal retinitis and retinochoroiditis" NARROW [DOID:10176] -synonym: "papilloretinitis" NARROW [DOID:10176] +synonym: "focal retinitis and retinochoroiditis, juxtapapillary" NARROW [ICD9CM:363.05] +synonym: "Juxtapapillary focal retinitis and retinochoroiditis" NARROW [] +synonym: "papilloretinitis" NARROW [] xref: DOID:10176 {source="MONDO:equivalentTo"} xref: ICD10CM:H30.9 {source="DOID:10176"} xref: icd11.foundation:418437487 {source="MONDO:equivalentTo"} @@ -13296,7 +13297,7 @@ id: MONDO:0000960 name: diabetic peripheral angiopathy def: "Diabetic angiopathy is a form of angiopathy associated with diabetic complications." [Wikipedia:Diabetic_angiopathy] subset: otar {source="MONDO:OTAR"} -synonym: "diabetic angiopathy" EXACT [MONDO:0006725] +synonym: "diabetic angiopathy" EXACT [DOID:11713, MONDO:0006725] synonym: "diabetic vascular disorder" EXACT [DOID:11713, NCIT:C35610] xref: DOID:10182 {source="MONDO:equivalentObsolete"} xref: DOID:11713 {source="MONDO:equivalentTo", source="EFO:1000896"} @@ -13322,7 +13323,7 @@ id: MONDO:0000961 name: endobronchial lipoma def: "A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree." [NCIT:C5063] comment: Editor note: TODO check with NCIT why this is classified as lung -synonym: "endobronchial lipoma" EXACT [NCIT:C5063] +synonym: "endobronchial lipoma" EXACT [DOID:10183, NCIT:C5063] xref: DOID:10183 {source="MONDO:equivalentTo"} xref: MEDGEN:208874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5063 {source="MONDO:equivalentTo", source="DOID:10183", source="MONDO:exact-label-match"} @@ -13339,7 +13340,7 @@ name: spindle cell lipoma def: "A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity." [NCIT:C4254] subset: otar {source="MONDO:OTAR"} synonym: "spindle cell lipoma" EXACT [DOID:10184, NCIT:C4254] -synonym: "spindle cell lipoma (morphologic abnormality)" EXACT [DOID:10184] +synonym: "spindle cell lipoma (morphologic abnormality)" EXACT [] xref: DOID:10184 {source="MONDO:equivalentTo"} xref: ICDO:8857/0 {source="NCIT:C4254"} xref: MEDGEN:83153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -13355,7 +13356,7 @@ intersection_of: disease_has_feature NCIT:C53637 ! Malignant Spindle Cell id: MONDO:0000963 name: esophageal lipoma def: "A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections." [NCIT:C5701] -synonym: "esophageal lipoma" EXACT [NCIT:C5701] +synonym: "esophageal lipoma" EXACT [DOID:10187, NCIT:C5701] synonym: "esophagus lipoma" EXACT [MONDO:patterns/location] synonym: "lipoma of esophagus" EXACT [DOID:10187, NCIT:C5701] synonym: "lipoma of oesophagus" EXACT OMO:0003005 [] @@ -13380,11 +13381,11 @@ def: "A benign or malignant adipose tissue neoplasm of the skin." [NCIT:P378] synonym: "cutaneous lipoma" EXACT [DOID:10188, NCIT:C4616] synonym: "cutaneous lipomatous tumor" EXACT [DOID:10188] synonym: "cutaneous lipomatous tumour" EXACT OMO:0003005 [] -synonym: "lipoma of face" NARROW [DOID:10188] +synonym: "lipoma of face" NARROW [] synonym: "lipoma of skin" EXACT [DOID:10188, NCIT:C4616] synonym: "lipoma of the skin" EXACT [NCIT:C4616] synonym: "lipoma of zone of skin" EXACT [MONDO:design_pattern] -synonym: "skin lipoma" EXACT [NCIT:C4616] +synonym: "skin lipoma" EXACT [DOID:10188, NCIT:C4616] synonym: "zone of skin lipoma" EXACT [MONDO:patterns/location] xref: DOID:10188 {source="MONDO:equivalentTo"} xref: ICD9:214.0 {source="MONDO:relatedTo", source="DOID:10188"} @@ -13406,10 +13407,10 @@ intersection_of: disease_has_location UBERON:0000014 ! zone of skin id: MONDO:0000965 name: liver lipoma def: "A rare benign adipose tissue neoplasm of the liver." [NCIT:C5750] -synonym: "hepatic lipoma" EXACT [NCIT:C5750] +synonym: "hepatic lipoma" EXACT [DOID:10190, NCIT:C5750] synonym: "lipoma of liver" EXACT [NCIT:C5750] synonym: "lipoma of the liver" EXACT [DOID:10190, NCIT:C5750] -synonym: "liver lipoma" EXACT [MONDO:patterns/location, NCIT:C5750] +synonym: "liver lipoma" EXACT [DOID:10190, MONDO:patterns/location, NCIT:C5750] xref: DOID:10190 {source="MONDO:equivalentTo"} xref: MEDGEN:232277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5750 {source="DOID:10190", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -13427,7 +13428,7 @@ id: MONDO:0000966 name: pleomorphic lipoma def: "A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei." [NCIT:C3703] synonym: "pleomorphic lipoma" EXACT [DOID:10192, NCIT:C3703] -synonym: "pleomorphic lipoma (morphologic abnormality)" EXACT [DOID:10192] +synonym: "pleomorphic lipoma (morphologic abnormality)" EXACT [] xref: DOID:10192 {source="MONDO:equivalentTo"} xref: ICDO:8854/0 {source="NCIT:C3703"} xref: MEDGEN:60027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -13443,8 +13444,8 @@ is_a: MONDO:0005106 {source="DOID:10192", source="NCIT:C3703/inferred"} ! lipoma id: MONDO:0000967 name: conventional lipoma def: "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones." [NCIT:C27530] -synonym: "classic type lipoma" EXACT [NCIT:C27530] -synonym: "conventional lipoma" EXACT [NCIT:C27530] +synonym: "classic type lipoma" EXACT [DOID:10193, NCIT:C27530] +synonym: "conventional lipoma" EXACT [DOID:10193, NCIT:C27530] xref: DOID:10193 {source="MONDO:equivalentTo"} xref: MEDGEN:272486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27530 {source="DOID:10193", source="MONDO:equivalentTo"} @@ -13455,7 +13456,7 @@ is_a: MONDO:0005106 {source="DOID:10193", source="NCIT:C27530"} ! lipoma id: MONDO:0000968 name: kidney lipoma def: "A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain." [NCIT:C5101] -synonym: "kidney lipoma" EXACT [MONDO:patterns/location, NCIT:C5101] +synonym: "kidney lipoma" EXACT [DOID:10194, MONDO:patterns/location, NCIT:C5101] synonym: "lipoma of kidney" EXACT [DOID:10194, NCIT:C5101] synonym: "lipoma of the kidney" EXACT [NCIT:C5101] synonym: "renal lipoma" EXACT [NCIT:C5101] @@ -13475,7 +13476,7 @@ def: "A benign adipose tissue neoplasm of the pleural cavity. It may be purely i synonym: "lipoma of pleura" EXACT [DOID:10195, NCIT:C6644] synonym: "lipoma of the pleura" EXACT [NCIT:C6644] synonym: "pleura lipoma" EXACT [MONDO:patterns/location] -synonym: "pleural lipoma" EXACT [NCIT:C6644] +synonym: "pleural lipoma" EXACT [DOID:10195, NCIT:C6644] xref: DOID:10195 {source="MONDO:equivalentTo"} xref: MEDGEN:233862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6644 {source="MONDO:equivalentTo", source="DOID:10195", source="MONDO:exact-label-match"} @@ -13492,7 +13493,7 @@ intersection_of: disease_has_location UBERON:0000977 ! pleura id: MONDO:0000970 name: breast lipoma def: "A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent." [NCIT:C4647] -synonym: "breast lipoma" EXACT [MONDO:patterns/location, NCIT:C4647] +synonym: "breast lipoma" EXACT [DOID:10199, MONDO:patterns/location, NCIT:C4647] synonym: "lipoma of breast" EXACT [DOID:10199, NCIT:C4647] synonym: "lipoma of the breast" EXACT [NCIT:C4647] xref: DOID:10199 {source="MONDO:equivalentTo"} @@ -13510,7 +13511,7 @@ intersection_of: disease_has_location UBERON:0000310 ! breast id: MONDO:0000971 name: chest wall lipoma def: "A benign adipose tissue neoplasm of the chest wall." [NCIT:P378] -synonym: "chest wall lipoma" EXACT [MONDO:patterns/location] +synonym: "chest wall lipoma" EXACT [DOID:10200, MONDO:patterns/location, NCIT:C6719] synonym: "lipoma of chest wall" EXACT [NCIT:C6719] synonym: "lipoma of the chest wall" EXACT [DOID:10200, NCIT:C6719] xref: DOID:10200 {source="MONDO:equivalentTo"} @@ -13530,7 +13531,7 @@ id: MONDO:0000972 name: gallbladder lipoma def: "A benign adipose tissue neoplasm involving the gallbladder wall." [NCIT:C5835] synonym: "gall bladder lipoma" EXACT [MONDO:patterns/location] -synonym: "gallbladder lipoma" EXACT [NCIT:C5835] +synonym: "gallbladder lipoma" EXACT [DOID:10201, NCIT:C5835] synonym: "lipoma of gall bladder" EXACT [MONDO:design_pattern] synonym: "lipoma of gallbladder" EXACT [NCIT:C5835] synonym: "lipoma of the gallbladder" EXACT [DOID:10201, NCIT:C5835] @@ -13549,14 +13550,14 @@ relationship: excluded_subClassOf MONDO:0005304 {source="DOID:10201", source="ht id: MONDO:0000973 name: external ear lipoma def: "A benign adipose tissue neoplasm of the external ear." [NCIT:C4618] -synonym: "external auditory meatus lipoma" EXACT [NCIT:C4618] -synonym: "external Ear lipoma" EXACT [NCIT:C4618] -synonym: "external ear lipoma" EXACT [MONDO:patterns/location] -synonym: "lipoma of external auditory meatus" EXACT [NCIT:C4618] +synonym: "external auditory meatus lipoma" EXACT [DOID:10203] +synonym: "external Ear lipoma" EXACT [DOID:10203, NCIT:C4618] +synonym: "external ear lipoma" EXACT [DOID:10203, MONDO:patterns/location, NCIT:C4618] +synonym: "lipoma of external auditory meatus" EXACT [DOID:10203] synonym: "lipoma of external Ear" EXACT [NCIT:C4618] -synonym: "lipoma of external ear" EXACT [] -synonym: "lipoma of the external auditory meatus" EXACT [NCIT:C4618] -synonym: "lipoma of the external Ear" EXACT [NCIT:C4618] +synonym: "lipoma of external ear" EXACT [NCIT:C4618] +synonym: "lipoma of the external auditory meatus" EXACT [] +synonym: "lipoma of the external Ear" EXACT [DOID:10203, NCIT:C4618] synonym: "lipoma of the external ear" EXACT [DOID:10203, NCIT:C4618] xref: DOID:10203 {source="MONDO:equivalentTo"} xref: ICD9:215.0 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -13576,7 +13577,7 @@ id: MONDO:0000974 name: axillary lipoma def: "A benign adipose tissue neoplasm of the axilla." [NCIT:C35419] synonym: "axilla lipoma" EXACT [MONDO:patterns/location] -synonym: "axillary lipoma" EXACT [NCIT:C35419] +synonym: "axillary lipoma" EXACT [DOID:10205, NCIT:C35419] synonym: "lipoma of axilla" EXACT [DOID:10205, NCIT:C35419] xref: DOID:10205 {source="MONDO:equivalentTo"} xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -13613,7 +13614,7 @@ intersection_of: disease_has_location UBERON:0005352 ! spermatic cord id: MONDO:0000976 name: paratesticular lipoma def: "A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range." [NCIT:C6384] -synonym: "paratesticular lipoma" EXACT [NCIT:C6384] +synonym: "paratesticular lipoma" EXACT [DOID:10207, NCIT:C6384] xref: DOID:10207 {source="MONDO:equivalentTo"} xref: MEDGEN:233310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6384 {source="DOID:10207", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -13638,7 +13639,7 @@ is_a: MONDO:0005106 {source="DOID:10208", source="NCIT:C6503"} ! lipoma id: MONDO:0000978 name: extrahepatic bile duct lipoma def: "A rare benign adipose tissue neoplasm of the extrahepatic bile duct." [NCIT:C5854] -synonym: "extrahepatic bile duct lipoma" EXACT [MONDO:patterns/location, NCIT:C5854] +synonym: "extrahepatic bile duct lipoma" EXACT [DOID:10209, MONDO:patterns/location, NCIT:C5854] synonym: "lipoma of extrahepatic bile duct" EXACT [NCIT:C5854] synonym: "lipoma of the extrahepatic bile duct" EXACT [DOID:10209, NCIT:C5854] xref: DOID:10209 {source="MONDO:equivalentTo"} @@ -13667,7 +13668,7 @@ synonym: "endemic treponematosis caused by Treponema carateum" RELATED [GARD:000 synonym: "infection by Treponema carateum" RELATED [] synonym: "Lota" RELATED [GARD:0007397] synonym: "Mal del pinto" RELATED [GARD:0007397] -synonym: "Pinta" EXACT [NORD:1580] +synonym: "Pinta" EXACT [NCIT:C85011, NORD:1580] synonym: "pinta" EXACT [NCIT:C85011] synonym: "Tina" RELATED [GARD:0007397] xref: DOID:1022 {source="MONDO:equivalentTo"} @@ -13735,8 +13736,8 @@ subset: rare synonym: "acute Histoplasma pericarditis" NARROW [doi:10.1001/archinte.1968.00300070066013] synonym: "Histoplasma caused pericarditis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Histoplasma pericarditis (disease)" EXACT [] -synonym: "histoplasmosis pericarditis" EXACT [] -synonym: "histoplasmosis with pericarditis" EXACT [] +synonym: "histoplasmosis pericarditis" EXACT [DOID:10234] +synonym: "histoplasmosis with pericarditis" EXACT [DOID:10234] xref: DOID:10234 {source="MONDO:equivalentTo"} xref: ICD9:115.93 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10234"} xref: MEDGEN:509241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -13822,7 +13823,7 @@ def: "Inflammation of the pleura. It is usually caused by infections. Chest pain subset: otar {source="MONDO:OTAR"} synonym: "inflammation of pleura" EXACT [] synonym: "pleura inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "pleuritis" EXACT [NCIT:C26860] +synonym: "pleuritis" EXACT [icd11.foundation:317852053, NCIT:C26860] xref: DOID:10247 {source="MONDO:equivalentTo"} xref: EFO:1001825 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:R09.1 {source="MONDO:equivalentTo"} @@ -13847,7 +13848,7 @@ relationship: disease_has_feature HP:0002725 ! Systemic lupus erythematosus id: MONDO:0000987 name: cholesterolosis of gallbladder def: "A disorder characterized by a change in the gallbladder wall due to excess cholesterol." [Wikipedia:Cholesterolosis_of_gallbladder] -synonym: "strawberry gallbladder" EXACT [DOID:10254, ICD9CM:575.6] +synonym: "strawberry gallbladder" EXACT [DOID:10254, ICD10CM:K82.4, icd11.foundation:2109132211, ICD9CM:575.6] xref: DOID:10254 {source="MONDO:equivalentTo"} xref: ICD10CM:K82.4 {source="MONDO:equivalentTo", source="DOID:10254"} xref: icd11.foundation:2109132211 {source="MONDO:equivalentTo"} @@ -13888,8 +13889,8 @@ name: mumps infectious disease alt_id: MONDO:0005863 def: "A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease." [NCIT:C29888] subset: otar {source="MONDO:OTAR"} -synonym: "epidemic parotitis" EXACT [NCIT:C29888] -synonym: "mumps" EXACT [NCIT:C29888] +synonym: "epidemic parotitis" EXACT [ICD10CM:B26, NCIT:C29888] +synonym: "mumps" EXACT [DOID:10264, ICD10CM:B26, NCIT:C29888] synonym: "Mumps virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mumps virus disease or disorder" EXACT [] synonym: "Mumps virus infectious disease" EXACT [] @@ -13922,7 +13923,7 @@ name: acute subendocardial myocardial infarction def: "Acute form of subendocardial myocardial infarction." [MONDO:patterns/acute] synonym: "acute nontransmural infarction" RELATED [] synonym: "acute subendocardial infarction" EXACT [] -synonym: "subendocardial infarction acute myocardial infarction" RELATED [DOID:10266] +synonym: "subendocardial infarction acute myocardial infarction" RELATED [] synonym: "subendocardial myocardial infarction, acute" EXACT [MONDO:patterns/acute] xref: DOID:10266 {source="MONDO:equivalentTo"} xref: ICD9:410.7 {source="DOID:10266"} @@ -13942,8 +13943,8 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0000991 name: obsolete left bundle branch block def: "OBSOLETE. A bundle branch block in which the activation of the left ventricle is delayed." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Left_bundle_branch_block] -synonym: "left bundle branch [block] or [hemiblock]" RELATED [DOID:10272] -synonym: "left bundle branch hemiblock" RELATED [DOID:10272] +synonym: "left bundle branch [block] or [hemiblock]" RELATED [] +synonym: "left bundle branch hemiblock" RELATED [] xref: DOID:10272 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:I44.60 {source="DOID:10272"} xref: ICD9:426.2 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:10272"} @@ -13982,10 +13983,10 @@ id: MONDO:0000993 name: prostate squamous cell carcinoma def: "An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation." [NCIT:C5536] synonym: "prostate gland squamous cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "prostate squamous cell carcinoma" EXACT [NCIT:C5536] +synonym: "prostate squamous cell carcinoma" EXACT [DOID:10287, NCIT:C5536] synonym: "PRSC" RELATED ABBREVIATION [ONCOTREE:PRSC] -synonym: "squamous cell carcinoma of prostate" EXACT [DOID:10287, NCIT:C5536] -synonym: "squamous cell carcinoma of the prostate" EXACT [DOID:10287, NCIT:C5536] +synonym: "squamous cell carcinoma of prostate" EXACT [NCIT:C5536] +synonym: "squamous cell carcinoma of the prostate" EXACT [NCIT:C5536] xref: DOID:10287 {source="MONDO:equivalentTo"} xref: MEDGEN:226996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5536 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:10287"} @@ -14011,7 +14012,7 @@ synonym: "malignant phyllodes tumour of prostate" EXACT OMO:0003005 [] synonym: "malignant phyllodes tumour of the prostate" EXACT OMO:0003005 [] synonym: "malignant prostate phyllodes neoplasm" EXACT [NCIT:C5531] synonym: "malignant prostate phyllodes tumor" EXACT [NCIT:C5531] -synonym: "prostate malignant phyllodes tumor" RELATED [DOID:10289] +synonym: "prostate malignant phyllodes tumor" RELATED [] synonym: "prostate malignant phyllodes tumour" RELATED OMO:0003005 [] xref: DOID:10289 {source="MONDO:equivalentTo"} xref: MEDGEN:235301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -14032,9 +14033,9 @@ subset: ordo_group_of_disorders {source="Orphanet:371433"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial periodic paralyses" RELATED OMO:0003005 [] -synonym: "familial periodic paralysis" EXACT [MESH:D010245, NCIT:C84709] +synonym: "familial periodic paralysis" EXACT [DOID:1029, MESH:D010245, NCIT:C84709] synonym: "familial periodic paralyzes" RELATED [MESH:D010245] -synonym: "genetic periodic paralysis" RELATED [GARD:0006422, Orphanet:371433] +synonym: "genetic periodic paralysis" RELATED [GARD:0006422] synonym: "hereditary periodic paralysis (disease)" EXACT [MONDO:patterns/hereditary] synonym: "normokalemic periodic paralyses" RELATED OMO:0003005 [] synonym: "normokalemic periodic paralysis" RELATED [MESH:D010245] @@ -14075,10 +14076,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "lymphoma of prostate" EXACT [DOID:10290, NCIT:C5533] synonym: "lymphoma of prostate gland" EXACT [MONDO:design_pattern] -synonym: "lymphoma of the prostate" EXACT [DOID:10290, NCIT:C5533] +synonym: "lymphoma of the prostate" EXACT [NCIT:C5533] synonym: "primary prostate lymphoma" EXACT [NCIT:C5533] synonym: "prostate gland lymphoma" EXACT [MONDO:patterns/location] -synonym: "prostate lymphoma" EXACT [NCIT:C5533] +synonym: "prostate lymphoma" EXACT [DOID:10290, NCIT:C5533] xref: DOID:10290 {source="MONDO:equivalentTo"} xref: MEDGEN:235500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5533 {source="DOID:10290", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -14123,7 +14124,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "mineral duct pneumoconiosis" BROAD [https://orcid.org/0000-0002-6601-2165] synonym: "mineral dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus] -synonym: "mixed mineral dust pneumoconiosis" EXACT [NCIT:C27559] +synonym: "mixed mineral dust pneumoconiosis" EXACT [DOID:10319, NCIT:C27559] synonym: "pneumoconiosis from mineral dust" EXACT [] xref: DOID:10319 {source="MONDO:equivalentTo"} xref: ICD9:503 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -14221,8 +14222,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8355/kaolin- [Term] id: MONDO:0001006 name: glaucomatous atrophy of optic disk -synonym: "glaucomatous atrophy [cupping] of optic disc" EXACT OMO:0003005 [] -synonym: "glaucomatous atrophy [cupping] of optic disk" EXACT [DOID:10337, ICD9CM:377.14] +synonym: "glaucomatous atrophy [cupping] of optic disc" EXACT OMO:0003005 [DOID:10337] +synonym: "glaucomatous atrophy [cupping] of optic disk" EXACT [ICD9CM:377.14] xref: DOID:10337 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.23 {source="DOID:10337"} xref: ICD9:377.14 {source="DOID:10337", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -14253,7 +14254,7 @@ relationship: excluded_subClassOf MONDO:0004796 {source="DOID:10341", source="ht id: MONDO:0001008 name: blepharophimosis def: "The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)" [MESH:D016569] -synonym: "blepharophimosis" EXACT [MONDO:ambiguous] +synonym: "blepharophimosis" EXACT [DOID:10348, MONDO:ambiguous] synonym: "blepharophimosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10348 {source="MONDO:equivalentTo"} xref: HP:0000581 {source="MONDO:otherHierarchy"} @@ -14269,8 +14270,8 @@ property_value: IAO:0000589 "blepharophimosis (disease)" xsd:string id: MONDO:0001009 name: solitary cyst of breast def: "A single, fluid-filled cyst in the breast parenchyma." [NCIT:P378] -synonym: "solitary cyst of breast" EXACT [DOID:10349, ICD9CM:610.0] -synonym: "solitary cyst of the breast" EXACT [DOID:10349, NCIT:C3378] +synonym: "solitary cyst of breast" EXACT [DOID:10349, ICD10CM:N60.0, ICD9CM:610.0] +synonym: "solitary cyst of the breast" EXACT [DOID:10349] xref: DOID:10349 {source="MONDO:equivalentTo"} xref: ICD10CM:N60.0 {source="DOID:10349", source="MONDO:equivalentTo"} xref: ICD10CM:N60.09 {source="DOID:10349"} @@ -14293,7 +14294,7 @@ replaced_by: MONDO:0019470 id: MONDO:0001011 name: breast cyst def: "A cystic lesion located in breast tissue." [NCIT:P378] -synonym: "cyst of the breast" EXACT [DOID:10350, NCIT:C5315] +synonym: "cyst of the breast" EXACT [DOID:10350] xref: DOID:10350 {source="MONDO:equivalentTo"} xref: ICD10CM:N60.0 {source="DOID:10350"} xref: MEDGEN:14220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -14309,8 +14310,8 @@ is_a: MONDO:0000620 {source="DOID:10350"} ! breast benign neoplasm id: MONDO:0001012 name: obsolete breast fibroadenosis comment: Obsoleting because this is a phenotype. -synonym: "fibroadenosis - breast" EXACT [DOID:10352] -synonym: "fibroadenosis of breast" EXACT [DOID:10352, ICD9CM:610.2] +synonym: "fibroadenosis - breast" EXACT [] +synonym: "fibroadenosis of breast" EXACT [ICD9CM:610.2] xref: DOID:10352 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N60.2 {source="MONDO:obsoleteEquivalent", source="DOID:10352"} xref: ICD9:610.2 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:10352"} @@ -14337,7 +14338,7 @@ subset: rare synonym: "adult chronic leukaemia" RELATED OMO:0003005 [] synonym: "adult chronic leukemia" RELATED [DOID:1036] synonym: "chronic leukaemia (disease)" EXACT OMO:0003005 [] -synonym: "chronic leukemia" EXACT [NCIT:C3483] +synonym: "chronic leukemia" EXACT [DOID:1036, NCIT:C3483] synonym: "chronic leukemia (disease)" EXACT [] synonym: "CLL" RELATED ABBREVIATION [DOID:1036] synonym: "CML" RELATED ABBREVIATION [DOID:1036] @@ -14371,14 +14372,14 @@ id: MONDO:0001016 name: epididymis cancer def: "A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site." [NCIT:C3558] synonym: "cancer of epididymis" EXACT [MONDO:patterns/cancer] -synonym: "epididymis cancer" EXACT [MONDO:patterns/location] +synonym: "epididymis cancer" EXACT [DOID:10366, MONDO:patterns/location] synonym: "malignant epididymal neoplasm" EXACT [NCIT:C3558] synonym: "malignant epididymal tumor" EXACT [DOID:10366, NCIT:C3558] synonym: "malignant epididymal tumour" EXACT OMO:0003005 [] synonym: "malignant epididymis neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of epididymis" EXACT [DOID:10366, ICD9CM:187.5, MONDO:patterns/cancer, NCIT:C3558] synonym: "malignant neoplasm of the epididymis" EXACT [NCIT:C3558] -synonym: "malignant tumor of epididymis" EXACT [NCIT:C3558] +synonym: "malignant tumor of epididymis" EXACT [DOID:10366, NCIT:C3558] synonym: "malignant tumor of the epididymis" EXACT [NCIT:C3558] synonym: "malignant tumour of epididymis" EXACT OMO:0003005 [] synonym: "malignant tumour of the epididymis" EXACT OMO:0003005 [] @@ -14399,9 +14400,9 @@ intersection_of: disease_has_location UBERON:0001301 ! epididymis id: MONDO:0001017 name: epididymal adenocarcinoma def: "A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain." [NCIT:C39957] -synonym: "adenocarcinoma of the epididymis" EXACT [DOID:10368, NCIT:C39957] +synonym: "adenocarcinoma of the epididymis" EXACT [NCIT:C39957] synonym: "epididymal adenocarcinoma" EXACT [NCIT:C39957] -synonym: "epididymis adenocarcinoma" EXACT [MONDO:patterns/location] +synonym: "epididymis adenocarcinoma" EXACT [DOID:10368, MONDO:patterns/location] xref: DOID:10368 {source="MONDO:equivalentTo"} xref: MEDGEN:307180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39957 {source="DOID:10368", source="MONDO:equivalentTo"} @@ -14436,9 +14437,9 @@ id: MONDO:0001020 name: amblyopia def: "Decreased vision that results from abnormal visual development." [NCIT:C118764] subset: otar {source="MONDO:OTAR"} -synonym: "amblyopia" EXACT [MONDO:ambiguous] +synonym: "amblyopia" EXACT [DOID:10376, MONDO:ambiguous, NCIT:C118764] synonym: "amblyopia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "lazy eye" RELATED [NCIT:C118764] +synonym: "lazy eye" RELATED [] xref: CSP:1114-9655 {source="DOID:10376"} xref: DOID:10376 {source="MONDO:equivalentTo"} xref: HP:0000646 {source="MONDO:otherHierarchy"} @@ -14490,12 +14491,12 @@ subset: gard_rare {source="GARD:11965", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PLL" EXACT ABBREVIATION [NCIT:C3181] +synonym: "PLL" EXACT ABBREVIATION [DOID:1039] synonym: "prolymphocytic leukaemia (B or T)" EXACT OMO:0003005 [] synonym: "prolymphocytic leukaemia (B or T-cell)" EXACT OMO:0003005 [] -synonym: "prolymphocytic leukemia" EXACT [NCIT:C3181] -synonym: "prolymphocytic leukemia (B or T)" EXACT [NCIT:C3181] -synonym: "prolymphocytic leukemia (B or T-cell)" EXACT [NCIT:C3181] +synonym: "prolymphocytic leukemia" EXACT [DOID:1039, NCIT:C3181] +synonym: "prolymphocytic leukemia (B or T)" EXACT [] +synonym: "prolymphocytic leukemia (B or T-cell)" EXACT [] xref: DOID:1039 {source="MONDO:equivalentTo"} xref: GARD:11965 {source="MONDO:GARD"} xref: ICD9:204.80 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -14517,8 +14518,8 @@ name: pneumonic plague def: "A plague in which the bacteria have infected the lungs." [https://www.healthline.com/health/plague#types] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "primary pneumonic plague" NARROW [DOID:10398] -synonym: "secondary pneumonic plague" NARROW [DOID:10398] +synonym: "primary pneumonic plague" NARROW [] +synonym: "secondary pneumonic plague" NARROW [] xref: DOID:10398 {source="MONDO:equivalentTo"} xref: ICD10CM:A20.2 {source="MONDO:equivalentTo", source="DOID:10398"} xref: icd11.foundation:1983098110 {source="MONDO:equivalentTo"} @@ -14565,9 +14566,9 @@ replaced_by: MONDO:0005113 id: MONDO:0001027 name: gonococcal seminal vesiculitis def: "A gonorrhea that involves the seminal vesicle." [MONDO:patterns/location] -synonym: "gonococcal seminal vesiculitis (acute)" EXACT [DOID:10400, ICD9CM:098.14] +synonym: "gonococcal seminal vesiculitis (acute)" EXACT [ICD9CM:098.14] synonym: "gonorrhea of seminal vesicle" EXACT [DOID:10400] -synonym: "gonorrhoea of seminal vesicle" EXACT OMO:0003005 [] +synonym: "gonorrhoea of seminal vesicle" EXACT OMO:0003005 [icd11.foundation:1226540022] synonym: "seminal vesicle gonorrhea" EXACT [MONDO:patterns/location] synonym: "seminal vesicle gonorrhoea" EXACT OMO:0003005 [] xref: DOID:10400 {source="MONDO:equivalentTo"} @@ -14613,14 +14614,14 @@ subset: ordo_disorder {source="Orphanet:2345"} subset: orphanet_rare {source="Orphanet:2345"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant Klippel-Feil syndrome" RELATED [DOID:10426] +synonym: "autosomal dominant Klippel-Feil syndrome" RELATED [] synonym: "cervical vertebral fusion" RELATED [GARD:0010280] -synonym: "congenital dystrophia brevicollis" RELATED [DOID:10426] -synonym: "congenital synostosis of cervical vertebrae" RELATED [DOID:10426] +synonym: "congenital dystrophia brevicollis" RELATED [] +synonym: "congenital synostosis of cervical vertebrae" RELATED [] synonym: "Klippel Feil syndrome" RELATED [GARD:0010280] -synonym: "Klippel-Feil and Turner syndrome" RELATED [DOID:10426] -synonym: "Klippel-Feil deformity, deafness and facial asymmetry" RELATED [DOID:10426] -synonym: "Klippel-Feil Sequence" EXACT [NCIT:C98967] +synonym: "Klippel-Feil and Turner syndrome" RELATED [] +synonym: "Klippel-Feil deformity, deafness and facial asymmetry" RELATED [] +synonym: "Klippel-Feil Sequence" EXACT [NCIT:C98967, Orphanet:2345] xref: DOID:10426 {source="MONDO:equivalentTo"} xref: GARD:10280 {source="MONDO:GARD"} xref: ICD10CM:Q76.1 {source="DOID:10426", source="MONDO:equivalentTo"} @@ -14777,7 +14778,7 @@ is_a: MONDO:0004577 {source="DOID:10445", source="icd11.foundation:232838320"} ! id: MONDO:0001039 name: tonsillitis def: "Inflammation of the tonsillar tissue." [NCIT:P378] -synonym: "chronic tonsillitis" EXACT [DOID:10456] +synonym: "chronic tonsillitis" EXACT [DOID:10456, ICD10CM:J35.01] synonym: "inflammation of tonsil" EXACT [] synonym: "throat infection - tonsillitis" EXACT [DOID:10456] synonym: "tonsil inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] @@ -14831,7 +14832,7 @@ def: "A dental caries that involves the dentine." [MONDO:patterns/location] synonym: "compound dental caries" EXACT [DOID:10461] synonym: "dental caries extending into dentine" EXACT [DOID:10461, ICD9CM:521.02] synonym: "dental caries of dentine" EXACT [MONDO:design_pattern] -synonym: "dentin caries, NOS" RELATED EXCLUDE [DOID:10461] +synonym: "dentin caries, NOS" RELATED EXCLUDE [] synonym: "dentine dental caries" EXACT [MONDO:patterns/location] xref: DOID:10461 {source="MONDO:equivalentTo"} xref: ICD9:521.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10461"} @@ -14850,8 +14851,8 @@ name: patellar tendinitis def: "A tendinitis that involves the patella." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "patella tendinitis" EXACT [MONDO:patterns/location] -synonym: "patellar tendonitis" EXACT [DOID:10471] +synonym: "patella tendinitis" EXACT [icd11.foundation:1366847963, MONDO:patterns/location] +synonym: "patellar tendonitis" EXACT [DOID:10471, icd11.foundation:1366847963] synonym: "tendinitis of patella" EXACT [MONDO:design_pattern] xref: DOID:10471 {source="MONDO:equivalentTo"} xref: ICD10CM:M76.5 {source="MONDO:equivalentTo", source="DOID:10471"} @@ -14877,12 +14878,12 @@ replaced_by: MONDO:0005728 id: MONDO:0001044 name: esophageal atresia def: "A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed." [NCIT:P378] -synonym: "congenital atresia of esophagus" EXACT [DOID:10485] +synonym: "congenital atresia of esophagus" EXACT [DOID:10485, NCIT:C87072] synonym: "congenital atresia of oesophagus" EXACT OMO:0003005 [] synonym: "congenital esophageal atresia" EXACT [NCIT:C87072] synonym: "congenital imperforate esophagus" EXACT [DOID:10485] synonym: "congenital imperforate oesophagus" EXACT OMO:0003005 [] -synonym: "esophageal atresia" EXACT [MONDO:ambiguous] +synonym: "esophageal atresia" EXACT [DOID:10485, MONDO:ambiguous, NCIT:C87072] synonym: "esophageal atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "imperforate esophagus" EXACT [DOID:10485] synonym: "imperforate oesophagus" EXACT OMO:0003005 [] @@ -14908,7 +14909,7 @@ def: "A congenital malformation characterized by the absence of a normal opening subset: otar {source="MONDO:OTAR"} synonym: "atresia of the intestine" EXACT [NCIT:C84790] synonym: "congenital intestinal atresia" EXACT [NCIT:C84790] -synonym: "intestinal atresia" EXACT [MONDO:ambiguous] +synonym: "intestinal atresia" EXACT [DOID:10486, MONDO:ambiguous, NCIT:C84790] synonym: "intestinal atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10486 {source="MONDO:equivalentTo"} xref: HP:0011100 {source="MONDO:otherHierarchy"} @@ -14933,7 +14934,7 @@ synonym: "anorectal malformations" RELATED [GARD:0006769] synonym: "anus, imperforate" EXACT [OMIM:207500, OMIM:301800] synonym: "congenital atresia of anus" EXACT [DOID:10488] synonym: "congenital or infantile occlusion of anus" EXACT [DOID:10488] -synonym: "imperforate anus" EXACT [DOID:10488, NCIT:C84784] +synonym: "imperforate anus" EXACT [DOID:10488, icd11.foundation:515168801, NCIT:C84784] xref: DOID:10488 {source="MONDO:equivalentTo"} xref: GARD:6769 {source="MONDO:GARD"} xref: ICD10CM:Q42.3 {source="DOID:10488"} @@ -14982,9 +14983,9 @@ id: MONDO:0001049 name: Dressler syndrome def: "A pericarditis characterized by inflammation, occurring after injury, located in pericardium." [DOID:10507, http://en.wikipedia.org/wiki/Dressler%27s_syndrome, http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307] comment: Editor note: TODO -synonym: "Dressler syndrome" EXACT [DOID:10507] -synonym: "Dressler's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "postmyocardial infarction syndrome" EXACT [DOID:10507, ICD9CM:411.0] +synonym: "Dressler syndrome" EXACT [DOID:10507, icd11.foundation:1353640147] +synonym: "Dressler's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:10507, ICD10CM:I24.1, MONDO:LexicalVariant] +synonym: "postmyocardial infarction syndrome" EXACT [DOID:10507, ICD10CM:I24.1, icd11.foundation:1353640147, ICD9CM:411.0] xref: DOID:10507 {source="MONDO:equivalentTo"} xref: ICD10CM:I24.1 {source="MONDO:equivalentTo", source="DOID:10507"} xref: icd11.foundation:1353640147 {source="MONDO:equivalentTo"} @@ -15088,27 +15089,27 @@ id: MONDO:0001056 name: gastric cancer def: "A primary or metastatic malignant neoplasm involving the stomach." [NCIT:C9331] subset: otar {source="MONDO:OTAR"} -synonym: "Ca body - stomach" NARROW [DOID:10534] -synonym: "ca greater curvature of stomach" NARROW [DOID:10534] -synonym: "Ca lesser curvature - stomach" EXACT [DOID:10534] +synonym: "Ca body - stomach" NARROW [] +synonym: "ca greater curvature of stomach" NARROW [] +synonym: "Ca lesser curvature - stomach" EXACT [] synonym: "cancer of stomach" EXACT [MONDO:patterns/cancer] -synonym: "gastric cancer" EXACT [DOID:10534] -synonym: "gastric cancer risk after h. pylori infection" EXACT [OMIM:613659, OMIM:genemap2] -synonym: "gastric cancer, intestinal" RELATED [OMIM:613659] -synonym: "gastric cancer, somatic" EXACT [OMIM:613659, OMIM:genemap2] -synonym: "gastric neoplasm" BROAD [DOID:10534, NCIT:C3387] +synonym: "gastric cancer" EXACT [DOID:10534, OMIM:613659] +synonym: "gastric cancer risk after h. pylori infection" EXACT [] +synonym: "gastric cancer, intestinal" RELATED [] +synonym: "gastric cancer, somatic" EXACT [] +synonym: "gastric neoplasm" BROAD [] synonym: "GC" EXACT ABBREVIATION [https://orcid.org/0000-0002-4071-8397] synonym: "malignant gastric neoplasm" EXACT [NCIT:C9331] synonym: "malignant gastric tumor" EXACT [NCIT:C9331] synonym: "malignant gastric tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of body of stomach" NARROW [DOID:10534] -synonym: "malignant neoplasm of lesser curve of stomach" EXACT [DOID:10534] -synonym: "malignant neoplasm of stomach" EXACT [MONDO:patterns/cancer, NCIT:C9331] +synonym: "malignant neoplasm of body of stomach" NARROW [] +synonym: "malignant neoplasm of lesser curve of stomach" EXACT [] +synonym: "malignant neoplasm of stomach" EXACT [ICD10CM:C16, MONDO:patterns/cancer, NCIT:C9331] synonym: "malignant neoplasm of the stomach" EXACT [NCIT:C9331] synonym: "malignant stomach neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant tumor of body of stomach" EXACT [DOID:10534] -synonym: "malignant tumor of greater curve of stomach" EXACT [DOID:10534] -synonym: "malignant tumor of lesser curve of stomach" EXACT [DOID:10534] +synonym: "malignant tumor of body of stomach" EXACT [] +synonym: "malignant tumor of greater curve of stomach" EXACT [] +synonym: "malignant tumor of lesser curve of stomach" EXACT [] synonym: "malignant tumor of stomach" EXACT [NCIT:C9331] synonym: "malignant tumor of the stomach" EXACT [NCIT:C9331] synonym: "malignant tumour of body of stomach" EXACT OMO:0003005 [] @@ -15116,7 +15117,7 @@ synonym: "malignant tumour of greater curve of stomach" EXACT OMO:0003005 [] synonym: "malignant tumour of lesser curve of stomach" EXACT OMO:0003005 [] synonym: "malignant tumour of stomach" EXACT OMO:0003005 [] synonym: "malignant tumour of the stomach" EXACT OMO:0003005 [] -synonym: "stomach cancer" EXACT [MONDO:patterns/location] +synonym: "stomach cancer" EXACT [DOID:10534, MONDO:patterns/location] xref: DOID:10534 {source="MONDO:equivalentTo"} xref: ICD10CM:C16 {source="DOID:10534", source="MONDO:equivalentTo"} xref: ICD10CM:C16.2 {source="DOID:10534"} @@ -15171,7 +15172,7 @@ def: "A metastasizing granular cell tumor that arises from the stomach." [NCIT:C subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "malignant gastric granular cell neoplasm" EXACT [NCIT:C5484] -synonym: "malignant gastric granular cell tumor" EXACT [NCIT:C5484] +synonym: "malignant gastric granular cell tumor" EXACT [DOID:10536, NCIT:C5484] synonym: "malignant granular cell neoplasm of stomach" EXACT [NCIT:C5484] synonym: "malignant granular cell neoplasm of the stomach" EXACT [NCIT:C5484] synonym: "malignant granular cell stomach neoplasm" EXACT [NCIT:C5484] @@ -15179,7 +15180,7 @@ synonym: "malignant granular cell stomach tumor" EXACT [NCIT:C5484] synonym: "malignant granular cell stomach tumour" EXACT OMO:0003005 [] synonym: "malignant granular cell tumor of stomach" EXACT [DOID:10536, NCIT:C5484] synonym: "malignant granular cell tumor of the stomach" EXACT [NCIT:C5484] -synonym: "malignant granular cell tumour of stomach" EXACT OMO:0003005 [] +synonym: "malignant granular cell tumour of stomach" EXACT OMO:0003005 [DOID:10536] synonym: "malignant granular cell tumour of the stomach" EXACT OMO:0003005 [] xref: DOID:10536 {source="MONDO:equivalentTo"} xref: MEDGEN:233664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -15202,10 +15203,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="NORD:1607", source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gastric lymphoma" EXACT [NCIT:C4636] +synonym: "gastric lymphoma" EXACT [DOID:10540, NCIT:C4636] synonym: "lymphoma of stomach" EXACT [NCIT:C4636] synonym: "lymphoma of the stomach" EXACT [DOID:10540, NCIT:C4636] -synonym: "Primary Gastric Lymphoma" EXACT [NORD:1607] +synonym: "Primary Gastric Lymphoma" EXACT [NCIT:C4636, NORD:1607] synonym: "primary gastric lymphoma" EXACT [NCIT:C4636] synonym: "stomach lymphoma" EXACT [MONDO:patterns/location] xref: DOID:10540 {source="MONDO:equivalentTo"} @@ -15225,7 +15226,7 @@ intersection_of: disease_has_location UBERON:0000945 ! stomach id: MONDO:0001060 name: microinvasive gastric cancer def: "An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present." [NCIT:P378] -synonym: "early gastric cancer" EXACT [NCIT:C27131] +synonym: "early gastric cancer" EXACT [DOID:10541, NCIT:C27131] synonym: "EGC" EXACT ABBREVIATION [NCIT:C27131] synonym: "superficial gastric cancer" EXACT [NCIT:C27131] synonym: "superficial spreading gastric cancer" EXACT [NCIT:C27131] @@ -15246,10 +15247,10 @@ synonym: "cancer of pylorus" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of Prepylorus" EXACT [DOID:10544] synonym: "malignant neoplasm of pylorus" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of pylorus of stomach" EXACT [DOID:10544] -synonym: "malignant pylorus neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant pylorus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C188051] synonym: "malignant tumor of pylorus" EXACT [DOID:10544] synonym: "malignant tumour of pylorus" EXACT OMO:0003005 [] -synonym: "pylorus cancer" EXACT [MONDO:patterns/location] +synonym: "pylorus cancer" EXACT [DOID:10544, MONDO:patterns/location] xref: DOID:10544 {source="MONDO:equivalentTo"} xref: ICD10CM:C16.4 {source="DOID:10544"} xref: ICD9:151.1 {source="DOID:10544", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -15270,12 +15271,12 @@ name: pyloric antrum cancer def: "A malignant neoplasm involving the pyloric antrum." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of pyloric antrum" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of antrum of stomach" EXACT [DOID:10547] -synonym: "malignant neoplasm of antrum of stomach NOS" RELATED EXCLUDE [DOID:10547] +synonym: "malignant neoplasm of antrum of stomach NOS" RELATED EXCLUDE [] synonym: "malignant neoplasm of pyloric antrum" EXACT [MONDO:patterns/cancer] synonym: "malignant pyloric antrum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of pyloric antrum" EXACT [DOID:10547] synonym: "malignant tumour of pyloric antrum" EXACT OMO:0003005 [] -synonym: "pyloric antrum cancer" EXACT [MONDO:patterns/location] +synonym: "pyloric antrum cancer" EXACT [DOID:10547, MONDO:patterns/location] xref: DOID:10547 {source="MONDO:equivalentTo"} xref: ICD10CM:C16.3 {source="DOID:10547"} xref: ICD9:151.2 {source="DOID:10547", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -15335,9 +15336,9 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0001065 name: supine hypotensive syndrome def: "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus." [DOID:10556, PMID:22537582, PMID:8164943] -synonym: "antepartum maternal hypotension syndrome" RELATED [DOID:10556] +synonym: "antepartum maternal hypotension syndrome" RELATED [] synonym: "maternal hypotension syndrome" RELATED [] -synonym: "postpartum maternal hypotension syndrome" RELATED [DOID:10556] +synonym: "postpartum maternal hypotension syndrome" RELATED [] xref: DOID:10556 {source="MONDO:equivalentTo"} xref: HP:0008071 xref: ICD9:669.20 {source="DOID:10556", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -15356,9 +15357,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "gummata and ulcers due to yaws" EXACT [DOID:10567, ICD9CM:102.4] synonym: "gummata of yaws" EXACT [DOID:10567] -synonym: "gummatous frambeside" EXACT [DOID:10567] +synonym: "gummatous frambeside" EXACT [DOID:10567, ICD10CM:A66.4] synonym: "multiple papillomata due to yaws and wet crab yaws" EXACT [DOID:10567] -synonym: "nodular late yaws" EXACT [DOID:10567] +synonym: "nodular late yaws" EXACT [DOID:10567, ICD10CM:A66.4] synonym: "ulcers of yaws" EXACT [DOID:10567] synonym: "yaws gummata and ulcers" EXACT [DOID:10567] xref: DOID:10567 {source="MONDO:equivalentTo"} @@ -15413,7 +15414,7 @@ is_a: MONDO:0006019 {source="DOID:10568", source="NCIT:C41352"} ! yaws id: MONDO:0001068 name: osteomalacia def: "A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003" [NCIT:P378] -synonym: "osteomalacia" EXACT [MONDO:ambiguous] +synonym: "osteomalacia" EXACT [DOID:10573, MONDO:ambiguous, NCIT:C26838] synonym: "osteomalacia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10573 {source="MONDO:equivalentTo"} xref: HP:0002749 {source="MONDO:otherHierarchy"} @@ -15449,9 +15450,9 @@ id: MONDO:0001071 name: intellectual disability def: "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group." [NCIT:C97250] subset: clingen {source="MONDO:CLINGEN"} -synonym: "intellectual disabilities" EXACT [NCIT:C97250] -synonym: "intellectual disability" EXACT CLINGEN_LABEL [] -synonym: "mental retardation" RELATED DEPRECATED [ICD10CM:F70-F79] +synonym: "intellectual disabilities" EXACT [ICD10CM:F70-F79, NCIT:C97250] +synonym: "intellectual disability" EXACT CLINGEN_LABEL [DOID:1059, NCIT:C97250] +synonym: "mental retardation" RELATED DEPRECATED [DOID:1059] xref: DOID:1059 {source="MONDO:equivalentTo"} xref: ICD10CM:F70-F79 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:319 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -15505,7 +15506,7 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0001074 name: chronic tic disorder def: "A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause." [NCIT:P378] -synonym: "chronic motor or vocal tic disorder" EXACT [DOID:10600, ICD9CM:307.22] +synonym: "chronic motor or vocal tic disorder" EXACT [DOID:10600, ICD10CM:F95.1, ICD9CM:307.22] synonym: "tic disorder, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:10600 {source="MONDO:equivalentTo"} xref: ICD10CM:F95.1 {source="DOID:10600", source="MONDO:equivalentTo"} @@ -15525,9 +15526,9 @@ relationship: disease_has_feature HP:0100035 ! Phonic tics id: MONDO:0001075 name: steatorrhea def: "A finding of an excessive amount of fat in the stool." [NCIT:P378] -synonym: "fatty stool" EXACT [DOID:10602] -synonym: "fatty stool (finding)" EXACT [DOID:10602] -synonym: "steatorrhea" EXACT [MONDO:ambiguous] +synonym: "fatty stool" EXACT [] +synonym: "fatty stool (finding)" EXACT [] +synonym: "steatorrhea" EXACT [MONDO:ambiguous, NCIT:C86917] synonym: "steatorrhea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10602 {source="MONDO:equivalentObsolete"} xref: HP:0002570 {source="MONDO:otherHierarchy"} @@ -15548,9 +15549,9 @@ name: glucose intolerance def: "The inability to regulate blood glucose levels resulting in hyperglycemia." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glucose: [intolerance] or [malabsorption]" EXACT [DOID:10603] -synonym: "glucose: intolerance" EXACT [DOID:10603] -synonym: "glucose: malabsorption" EXACT [DOID:10603] +synonym: "glucose: [intolerance] or [malabsorption]" EXACT [] +synonym: "glucose: intolerance" EXACT [] +synonym: "glucose: malabsorption" EXACT [] synonym: "malabsorption of glucose" EXACT [DOID:10603] xref: DOID:10603 {source="MONDO:equivalentTo"} xref: ICD10CM:R73.09 {source="DOID:10603"} @@ -15584,7 +15585,7 @@ synonym: "idiopathic tropical malabsorption syndrome" RELATED [GARD:0007824] synonym: "post-infective tropical malabsorption" EXACT [NCIT:C45428] synonym: "sprue - tropical" EXACT [DOID:10607] synonym: "tropical enteropathy" RELATED [GARD:0007824] -synonym: "tropical steatorrhea" EXACT [DOID:10607] +synonym: "tropical steatorrhea" EXACT [DOID:10607, ICD10CM:K90.1, icd11.foundation:316377284] xref: DOID:10607 {source="MONDO:equivalentTo"} xref: ICD10CM:K90.1 {source="MONDO:equivalentTo", source="DOID:10607"} xref: icd11.foundation:316377284 {source="MONDO:equivalentTo"} @@ -15623,9 +15624,9 @@ id: MONDO:0001080 name: acute gonococcal cervicitis def: "Acute form of gonococcal cervicitis." [MONDO:patterns/acute] synonym: "acute gonorrhea of cervix" EXACT [DOID:10615] -synonym: "acute gonorrhoea of cervix" EXACT OMO:0003005 [] -synonym: "gonococcal cervicitis" RELATED EXCLUDE [DOID:10615] -synonym: "gonococcal cervicitis (acute)" EXACT [DOID:10615, ICD9CM:098.15] +synonym: "acute gonorrhoea of cervix" EXACT OMO:0003005 [icd11.foundation:2071927498] +synonym: "gonococcal cervicitis" RELATED EXCLUDE [] +synonym: "gonococcal cervicitis (acute)" EXACT [ICD9CM:098.15] synonym: "gonococcal cervicitis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute] xref: DOID:10615 {source="MONDO:equivalentTo"} xref: icd11.foundation:2071927498 {source="MONDO:equivalentTo"} @@ -15664,8 +15665,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cancer of lymph node" EXACT [MONDO:patterns/cancer] -synonym: "lymph node cancer" EXACT [MONDO:patterns/location, NCIT:C35812] -synonym: "lymph node neoplasm" BROAD [DOID:10619, NCIT:C35497] +synonym: "lymph node cancer" EXACT [DOID:10619, MONDO:patterns/location, NCIT:C35812] +synonym: "lymph node neoplasm" BROAD [] synonym: "malignant lymph node neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C35812] synonym: "malignant neoplasm of lymph node" EXACT [MONDO:patterns/cancer] xref: DOID:10619 {source="MONDO:equivalentTo"} @@ -15690,16 +15691,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adult Fanconi Anemia" EXACT EXCLUDE [] -synonym: "adult Fanconi syndrome" NARROW [DOID:1062] -synonym: "congenital Fanconi syndrome" NARROW [DOID:1062] +synonym: "adult Fanconi syndrome" NARROW [] +synonym: "congenital Fanconi syndrome" NARROW [] synonym: "De toni-debre-Fanconi syndrome" EXACT [NCIT:C3034] synonym: "De toni-Fanconi syndrome" EXACT [DOID:1062] synonym: "deToni Fanconi syndrome" EXACT [DOID:1062] -synonym: "Fanconi syndrome" EXACT [NCIT:C3034] -synonym: "Fanconi's syndrome" EXACT [NCIT:C3034] +synonym: "Fanconi syndrome" EXACT [DOID:1062, NCIT:C3034] +synonym: "Fanconi's syndrome" EXACT [] synonym: "Fanconi-de toni syndrome" EXACT [DOID:1062] synonym: "Fanconi-de-toni syndrome" EXACT [DOID:1062] -synonym: "infantile nephropathic cystinosis" RELATED [DOID:1062] +synonym: "infantile nephropathic cystinosis" RELATED [] synonym: "Lignac-Fanconi syndrome" EXACT [DOID:1062, NCIT:C3034] synonym: "toni-debre-Fanconi syndrome" RELATED [GARD:0009120] xref: DOID:1062 {source="MONDO:equivalentTo"} @@ -15785,7 +15786,7 @@ is_a: MONDO:0002028 {source="DOID:10646", source="NCIT:C92632"} ! personality di id: MONDO:0001088 name: acute inferoposterior infarction comment: Editor note: TODO: positional superclass -synonym: "acute inferoposterior infarction" EXACT [] +synonym: "acute inferoposterior infarction" EXACT [DOID:10648] synonym: "acute inferoposterior myocardial infarction" EXACT [] synonym: "acute myocardial infarction of inferoposterior wall" EXACT [] xref: DOID:10648 {source="MONDO:equivalentTo"} @@ -15802,7 +15803,7 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0001089 name: acute inferolateral myocardial infarction comment: Editor note: TODO: positional superclass -synonym: "acute inferolateral myocardial infarction" EXACT [] +synonym: "acute inferolateral myocardial infarction" EXACT [DOID:10649] synonym: "acute myocardial infarction of inferolateral wall" EXACT [] xref: DOID:10649 {source="MONDO:equivalentTo"} xref: ICD9:410.20 {source="DOID:10649", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -15819,7 +15820,7 @@ id: MONDO:0001090 name: acute anterolateral myocardial infarction def: "Acute form of anterolateral myocardial infarction." [MONDO:patterns/acute] comment: Editor note: TODO: positional superclass -synonym: "acute anterolateral myocardial infarction" EXACT [] +synonym: "acute anterolateral myocardial infarction" EXACT [DOID:10651] synonym: "acute myocardial infarction of anterolateral wall" EXACT [] synonym: "anterolateral myocardial infarction, acute" EXACT [MONDO:patterns/acute] xref: DOID:10651 {source="MONDO:equivalentTo"} @@ -15841,7 +15842,7 @@ name: lipoma of colon def: "A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction." [NCIT:C5493] synonym: "colon lipoma" EXACT [MONDO:patterns/location, NCIT:C5493] synonym: "colonic lipoma" EXACT [DOID:10655, NCIT:C5493] -synonym: "lipoma of colon" EXACT [NCIT:C5493] +synonym: "lipoma of colon" EXACT [DOID:10655, NCIT:C5493] synonym: "lipoma of the colon" EXACT [NCIT:C5493] xref: DOID:10655 {source="MONDO:equivalentTo"} xref: MEDGEN:182652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -15856,7 +15857,7 @@ intersection_of: disease_has_location UBERON:0001155 ! colon id: MONDO:0001092 name: colon leiomyoma def: "A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5492] -synonym: "colon leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5492] +synonym: "colon leiomyoma" EXACT [DOID:10656, MONDO:patterns/location, NCIT:C5492] synonym: "colonic leiomyoma" EXACT [DOID:10656, NCIT:C5492] synonym: "leiomyoma of colon" EXACT [NCIT:C5492] synonym: "leiomyoma of the colon" EXACT [NCIT:C5492] @@ -15911,10 +15912,10 @@ def: "A neuroblastoma arising from the mediastinum." [NCIT:C6628] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mediastinal neuroblastoma" RELATED [NCIT:C6628] -synonym: "mediastinum neuroblastoma" EXACT [MONDO:patterns/location] +synonym: "mediastinal neuroblastoma" RELATED [] +synonym: "mediastinum neuroblastoma" EXACT [DOID:10660, MONDO:patterns/location] synonym: "neuroblastoma of mediastinum" EXACT [DOID:10660, NCIT:C6628] -synonym: "neuroblastoma of the mediastinum" RELATED [NCIT:C6628] +synonym: "neuroblastoma of the mediastinum" RELATED [] xref: DOID:10660 {source="MONDO:equivalentTo"} xref: EFO:1000367 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:235313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -16004,7 +16005,7 @@ synonym: "hypertrophy of the breast" EXACT [NCIT:C3125] synonym: "idiopathic gigantomastia (subtype)" RELATED [GARD:0009450] synonym: "juvenile gigantomastia (subtype)" RELATED [GARD:0009450] synonym: "large breast" EXACT [DOID:10688] -synonym: "macromastia" EXACT [NCIT:C3125] +synonym: "macromastia" EXACT [icd11.foundation:2078176266, NCIT:C3125] synonym: "medication-induced gigantomastia (subtype)" RELATED [GARD:0009450] synonym: "pregnancy-induced gigantomastia (subtype)" RELATED [GARD:0009450] synonym: "puberty-induced gigantomastia (subtype)" RELATED [GARD:0009450] @@ -16111,8 +16112,8 @@ id: MONDO:0001106 name: kidney failure def: "An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "failure, renal" EXACT [NCIT:C4376] -synonym: "renal failure" EXACT [DOID:1074] +synonym: "failure, renal" EXACT [] +synonym: "renal failure" EXACT [DOID:1074, NCIT:C4376] synonym: "renal failure syndrome" EXACT [NCIT:C4376] synonym: "renal insufficiency" EXACT [NCIT:C4376] xref: DOID:1074 {source="MONDO:equivalentTo"} @@ -16262,7 +16263,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "fiedler myocarditis" EXACT [DOID:10778] -synonym: "idiopathic myocarditis" EXACT [DOID:10778, ICD9CM:422.91] +synonym: "idiopathic myocarditis" EXACT [DOID:10778, ICD10CM:I40.1, ICD9CM:422.91] synonym: "isolated (Fiedler's) myocarditis" EXACT [DOID:10778] xref: DOID:10778 {source="MONDO:equivalentTo"} xref: ICD10CM:I40.1 {source="DOID:10778", source="MONDO:equivalentTo"} @@ -16283,7 +16284,7 @@ name: bacterial myocarditis def: "Myocarditis that is caused by an infection with a bacterial agent." [NCIT:C128380] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "septic myocarditis" EXACT [DOID:10779] +synonym: "septic myocarditis" EXACT [DOID:10779, ICD10CM:I40.0] xref: DOID:10779 {source="MONDO:equivalentTo"} xref: ICD10CM:I40.0 {source="DOID:10779", source="MONDO:equivalentTo"} xref: icd11.foundation:900037931 {source="MONDO:equivalentTo"} @@ -16304,11 +16305,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "erythrocytosis, familial" EXACT [OMIMPS:133100] -synonym: "familial erythrocytosis" RELATED EXCLUDE [DOID:10780] +synonym: "familial erythrocytosis" RELATED EXCLUDE [] synonym: "familial polycythemia" EXACT [NCIT:C26955] -synonym: "familiar polycythemia" RELATED EXCLUDE [DOID:10780] +synonym: "familiar polycythemia" RELATED EXCLUDE [] synonym: "hereditary polycythemia (disease)" EXACT [MONDO:patterns/hereditary] -synonym: "primary polycythemia" NARROW [DOID:10780] +synonym: "primary polycythemia" NARROW [] xref: DOID:10780 {source="MONDO:equivalentTo"} xref: ICD10CM:D75.0 {source="DOID:10780"} xref: ICD9:289.6 {source="DOID:10780"} @@ -16333,7 +16334,7 @@ name: mesenteric lymphadenitis def: "Inflammation of the mesenteric lymph nodes." [NCIT:P378] synonym: "lymphadenitis (disease) of mesentery" EXACT [] synonym: "mesenteric adenitis" EXACT [DOID:10782] -synonym: "mesenteric lymphadenitis" EXACT [DOID:10782] +synonym: "mesenteric lymphadenitis" EXACT [DOID:10782, NCIT:C26830] synonym: "mesentery lymphadenitis (disease)" EXACT [MONDO:patterns/location] xref: DOID:10782 {source="MONDO:equivalentTo"} xref: ICD10CM:I88.0 {source="DOID:10782"} @@ -16383,7 +16384,7 @@ name: Queensland tick typhus def: "A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy." [DOID:10784, http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29, http://www.cdc.gov/otherspottedfever/index.html] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Australian tick typhus" RELATED [DOID:10784] +synonym: "Australian tick typhus" RELATED [] synonym: "North Queensland tick typhus" RELATED [DOID:10784] synonym: "Rickettsia australis spotted fever" EXACT [DOID:10784] xref: DOID:10784 {source="MONDO:equivalentTo"} @@ -16401,11 +16402,11 @@ id: MONDO:0001119 name: premature menopause def: "Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive." [NCIT:C80099] subset: otar {source="MONDO:OTAR"} -synonym: "early menopause" EXACT [NCIT:C80099] +synonym: "early menopause" EXACT [] synonym: "menopause - premature" EXACT [DOID:10787] synonym: "menopause praecox" EXACT [DOID:10787] synonym: "POF" EXACT ABBREVIATION [NCIT:C80099] -synonym: "premature menopause" EXACT [NCIT:C80099] +synonym: "premature menopause" EXACT [DOID:10787, NCIT:C80099] synonym: "premature ovarian failure" EXACT [NCIT:C80099] xref: DOID:10787 {source="MONDO:equivalentTo"} xref: EFO:0009005 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -16469,7 +16470,7 @@ intersection_of: disease_has_inflammation_site UBERON:0001760 ! frontal sinus id: MONDO:0001122 name: chronic maxillary sinusitis def: "Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." [NCIT:P378] -synonym: "chronic antritis" EXACT [DOID:10792] +synonym: "chronic antritis" EXACT [DOID:10792, icd11.foundation:1372580647] synonym: "maxillary sinusitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:10792 {source="MONDO:equivalentTo"} xref: ICD10CM:J32.0 {source="MONDO:equivalentTo", source="DOID:10792"} @@ -16519,8 +16520,8 @@ replaced_by: MONDO:0016075 id: MONDO:0001125 name: acute gonococcal epididymo-orchitis def: "Acute form of gonococcal epididymo-orchitis." [MONDO:patterns/acute] -synonym: "gonococcal epididymo-orchitis" RELATED EXCLUDE [DOID:10802] -synonym: "gonococcal epididymo-orchitis (acute)" EXACT [DOID:10802, ICD9CM:098.13] +synonym: "gonococcal epididymo-orchitis" RELATED EXCLUDE [] +synonym: "gonococcal epididymo-orchitis (acute)" EXACT [ICD9CM:098.13] synonym: "gonococcal epididymo-orchitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:10802 {source="MONDO:equivalentTo"} xref: ICD9:098.13 {source="MONDO:equivalentTo", source="DOID:10802", source="MONDO:i2s"} @@ -16543,29 +16544,29 @@ synonym: "acute gastric ulcer with haemorrhage and perforation" NARROW OMO:00030 synonym: "acute gastric ulcer with haemorrhage and perforation, with obstruction" NARROW OMO:0003005 [] synonym: "acute gastric ulcer with haemorrhage and perforation, without mention of obstruction" NARROW OMO:0003005 [] synonym: "acute gastric ulcer with haemorrhage and with perforation but without obstruction" NARROW OMO:0003005 [] -synonym: "acute gastric ulcer with hemorrhage and obstruction" NARROW [DOID:10808] -synonym: "acute gastric ulcer with hemorrhage and perforation" NARROW [DOID:10808] -synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" NARROW [DOID:10808] -synonym: "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction" NARROW [DOID:10808] -synonym: "acute gastric ulcer with hemorrhage and with perforation but without obstruction" NARROW [DOID:10808] -synonym: "acute gastric ulcer with hemorrhage, with obstruction" NARROW [DOID:10808] -synonym: "acute gastric ulcer with hemorrhage, with perforation and with obstruction" NARROW [DOID:10808] -synonym: "acute gastric ulcer with perforation" NARROW [DOID:10808] -synonym: "acute gastric ulcer with perforation and obstruction" NARROW [DOID:10808] -synonym: "acute gastric ulcer with perforation, with obstruction" NARROW [DOID:10808] +synonym: "acute gastric ulcer with hemorrhage and obstruction" NARROW [] +synonym: "acute gastric ulcer with hemorrhage and perforation" NARROW [] +synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" NARROW [] +synonym: "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction" NARROW [] +synonym: "acute gastric ulcer with hemorrhage and with perforation but without obstruction" NARROW [] +synonym: "acute gastric ulcer with hemorrhage, with obstruction" NARROW [] +synonym: "acute gastric ulcer with hemorrhage, with perforation and with obstruction" NARROW [] +synonym: "acute gastric ulcer with perforation" NARROW [] +synonym: "acute gastric ulcer with perforation and obstruction" NARROW [] +synonym: "acute gastric ulcer with perforation, with obstruction" NARROW [] synonym: "acute gastric ulcer without haemorrhage and without perforation" NARROW OMO:0003005 [] -synonym: "acute gastric ulcer without hemorrhage and without perforation" NARROW [DOID:10808] -synonym: "acute gastric ulcer without hemorrhage, without perforation and without obstruction" NARROW [DOID:10808] +synonym: "acute gastric ulcer without hemorrhage and without perforation" NARROW [] +synonym: "acute gastric ulcer without hemorrhage, without perforation and without obstruction" NARROW [] synonym: "acute gastric ulcer without mention of haemorrhage or perforation, without mention of obstruction" NARROW OMO:0003005 [] -synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" NARROW [DOID:10808] -synonym: "bleeding acute gastric ulcer" NARROW [DOID:10808] +synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" NARROW [] +synonym: "bleeding acute gastric ulcer" NARROW [] synonym: "chronic gastric ulcer without haemorrhage and without perforation" NARROW OMO:0003005 [] synonym: "chronic gastric ulcer without haemorrhage and without perforation but with obstruction" NARROW OMO:0003005 [] -synonym: "chronic gastric ulcer without hemorrhage and without perforation" NARROW [DOID:10808] -synonym: "chronic gastric ulcer without hemorrhage and without perforation but with obstruction" NARROW [DOID:10808] +synonym: "chronic gastric ulcer without hemorrhage and without perforation" NARROW [] +synonym: "chronic gastric ulcer without hemorrhage and without perforation but with obstruction" NARROW [] synonym: "chronic gastric ulcer without mention of haemorrhage or perforation, with obstruction" NARROW OMO:0003005 [] -synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" NARROW [DOID:10808] -synonym: "gastric ulcer" EXACT [MONDO:ambiguous] +synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" NARROW [] +synonym: "gastric ulcer" EXACT [DOID:10808, ICD10CM:K25, icd11.foundation:1437411258, MONDO:ambiguous, NCIT:C3388] synonym: "gastric ulcer (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "peptic ulcer disease of stomach" EXACT [MONDO:design_pattern] synonym: "stomach peptic ulcer disease" EXACT [MONDO:patterns/location] @@ -16601,7 +16602,7 @@ def: "A tendinitis that involves the tibialis." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "tendinitis of tibialis" EXACT [MONDO:design_pattern] -synonym: "tibialis tendinitis" EXACT [MONDO:patterns/location] +synonym: "tibialis tendinitis" EXACT [DOID:10810, MONDO:patterns/location] xref: DOID:10810 {source="MONDO:equivalentTo"} xref: ICD9:726.72 {source="DOID:10810", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:510515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -16627,7 +16628,7 @@ synonym: "malignant tumor of nasal cavity" EXACT [NCIT:C4918] synonym: "malignant tumor of the nasal cavity" EXACT [DOID:10811, NCIT:C4918] synonym: "malignant tumour of nasal cavity" EXACT OMO:0003005 [] synonym: "malignant tumour of the nasal cavity" EXACT OMO:0003005 [] -synonym: "nasal cavity cancer" EXACT [MONDO:patterns/location] +synonym: "nasal cavity cancer" EXACT [DOID:10811, MONDO:patterns/location] xref: DOID:10811 {source="MONDO:equivalentTo"} xref: ICD10CM:C30.0 {source="DOID:10811"} xref: ICD9:160.0 {source="DOID:10811", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -16650,7 +16651,7 @@ name: nasal cavity olfactory neuroblastoma def: "An olfactory neuroblastoma arising in the nasal cavity." [NCIT:C7604] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "nasal cavity olfactory neuroblastoma" EXACT [MONDO:patterns/location, NCIT:C7604] +synonym: "nasal cavity olfactory neuroblastoma" EXACT [DOID:10812, MONDO:patterns/location, NCIT:C7604] synonym: "olfactory neuroblastoma of nasal cavity" EXACT [NCIT:C7604] synonym: "olfactory neuroblastoma of the nasal cavity" EXACT [DOID:10812, NCIT:C7604] xref: DOID:10812 {source="MONDO:equivalentTo"} @@ -16670,7 +16671,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "lymphoma of nasal cavity" EXACT [DOID:10813, NCIT:C6074] synonym: "lymphoma of the nasal cavity" EXACT [DOID:10813, NCIT:C6074] -synonym: "nasal cavity lymphoma" EXACT [MONDO:patterns/location, NCIT:C6074] +synonym: "nasal cavity lymphoma" EXACT [DOID:10813, MONDO:patterns/location, NCIT:C6074] synonym: "primary nasal cavity lymphoma" EXACT [NCIT:C6074] xref: DOID:10813 {source="MONDO:equivalentTo"} xref: MEDGEN:233747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -16691,7 +16692,7 @@ replaced_by: MONDO:0006186 id: MONDO:0001132 name: sexual sadism disorder def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual." [NCIT:C94358] -synonym: "sexual sadism" EXACT [DOID:10817, NCIT:C94358] +synonym: "sexual sadism" EXACT [DOID:10817, ICD10CM:F65.52, NCIT:C94358] xref: DOID:10817 {source="MONDO:equivalentTo"} xref: ICD10CM:F65.52 {source="MONDO:equivalentTo", source="DOID:10817"} xref: ICD9:302.84 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10817"} @@ -16723,8 +16724,8 @@ id: MONDO:0001134 name: essential hypertension def: "Hypertension that presents without an identifiable cause." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "idiopathic hypertension" EXACT [DOID:10825, Wikipedia:Essential_hypertension] -synonym: "primary hypertension" EXACT [DOID:10825, NCIT:C3478, Wikipedia:Essential_hypertension] +synonym: "idiopathic hypertension" EXACT [DOID:10825, icd11.foundation:761947693, Wikipedia:Essential_hypertension] +synonym: "primary hypertension" EXACT [DOID:10825, icd11.foundation:761947693, Wikipedia:Essential_hypertension] xref: DOID:10825 {source="MONDO:equivalentTo"} xref: ICD10CM:I10 {source="DOID:10825"} xref: icd11.foundation:761947693 {source="MONDO:equivalentTo"} @@ -16772,8 +16773,8 @@ relationship: disease_has_location UBERON:0006650 ! tunica vaginalis testis id: MONDO:0001137 name: Murray valley encephalitis def: "An disease caused by infection with Murray Valley encephalitis virus." [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Australian encephalitis" EXACT [DOID:10842, ICD9CM:062.4] -synonym: "Australian X disease" EXACT [DOID:10842] +synonym: "Australian encephalitis" EXACT [DOID:10842, ICD10CM:A83.4, icd11.foundation:1040970454, ICD9CM:062.4] +synonym: "Australian X disease" EXACT [DOID:10842, icd11.foundation:1040970454] synonym: "Murray Valley encephalitis virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Murray Valley encephalitis virus disease or disorder" EXACT [] synonym: "Murray Valley encephalitis virus infectious disease" EXACT [] @@ -16810,7 +16811,7 @@ intersection_of: disease_has_location UBERON:0000160 ! intestine id: MONDO:0001139 name: sexual masochism disorder def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer." [NCIT:C94356] -synonym: "sexual masochism" EXACT [DOID:10849, NCIT:C94356] +synonym: "sexual masochism" EXACT [DOID:10849, ICD10CM:F65.51, NCIT:C94356] xref: DOID:10849 {source="MONDO:equivalentTo"} xref: ICD10CM:F65.51 {source="MONDO:equivalentTo", source="DOID:10849"} xref: ICD9:302.83 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10849"} @@ -16850,7 +16851,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of saliva-secreting gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of saliva-secreting gland" EXACT [] synonym: "disorder of saliva-secreting gland" EXACT [MONDO:patterns/location_top] -synonym: "non-neoplastic salivary gland disease" NARROW [DOID:10854, NCIT:C27662] +synonym: "non-neoplastic salivary gland disease" NARROW [] synonym: "saliva-secreting gland disease" EXACT [MONDO:patterns/location] synonym: "saliva-secreting gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "salivary gland disease" EXACT [DOID:10854, NCIT:C26879] @@ -16952,7 +16953,7 @@ name: meningocele def: "A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium." [NCIT:C105595] subset: otar {source="MONDO:OTAR"} synonym: "central nervous system meningocele" EXACT [NCIT:C105595] -synonym: "meningocele" EXACT [MONDO:ambiguous, NCIT:C105595] +synonym: "meningocele" EXACT [DOID:1088, MONDO:ambiguous, NCIT:C101209, NCIT:C105595] synonym: "meningocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "spinal meningocele" NARROW [] xref: DOID:1088 {source="MONDO:equivalentTo"} @@ -16979,7 +16980,7 @@ def: "A thrombophlebitis that involves the iliac vein." [MONDO:patterns/location subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "iliac vein thrombophlebitis" EXACT [MONDO:patterns/location] +synonym: "iliac vein thrombophlebitis" EXACT [DOID:10880, MONDO:patterns/location] synonym: "phlebitis and thrombophlebitis of the iliac vein" EXACT [DOID:10880] synonym: "thrombophlebitis of iliac vein" EXACT [MONDO:design_pattern] xref: DOID:10880 {source="MONDO:equivalentTo"} @@ -17002,10 +17003,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "microcephalus" EXACT [DOID:10907, ICD9CM:742.1] -synonym: "microcephaly" EXACT [MONDO:ambiguous] +synonym: "microcephalus" EXACT [DOID:10907, icd11.foundation:179350437, ICD9CM:742.1, NCIT:C85874] +synonym: "microcephaly" EXACT [DOID:10907, icd11.foundation:179350437, MONDO:ambiguous, NCIT:C85874] synonym: "microcephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "microencephaly" EXACT [DOID:10907] +synonym: "microencephaly" EXACT [DOID:10907, icd11.foundation:179350437] xref: DOID:10907 {source="MONDO:equivalentTo"} xref: HP:0000252 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q02 {source="DOID:10907"} @@ -17030,8 +17031,8 @@ property_value: IAO:0000589 "microcephaly (disease)" xsd:string id: MONDO:0001150 name: hydrocephalus def: "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain." [NCIT:C3111] -synonym: "hydrocephalus, nonsyndromic, autosomal recessive" NARROW [DOID:10908, OMIM:236600] -synonym: "hydrocephalus, X-linked" NARROW [DOID:10908, MESH:C536078] +synonym: "hydrocephalus, nonsyndromic, autosomal recessive" NARROW [] +synonym: "hydrocephalus, X-linked" NARROW [MESH:C536078] xref: DOID:10908 {source="MONDO:equivalentTo"} xref: ICD10CM:G91 {source="MONDO:equivalentTo", source="DOID:10908"} xref: ICD10CM:G91.9 {source="DOID:10908"} @@ -17055,7 +17056,7 @@ relationship: excluded_subClassOf MONDO:0005559 {source="DOID:10908", source="ht id: MONDO:0001151 name: benign essential hypertension def: "A condition of mild to moderate high blood pressure that has no identifiable cause." [NCIT:P378] -synonym: "benign essential hypertension" EXACT [DOID:10913, NCIT:C3656] +synonym: "benign essential hypertension" EXACT [DOID:10913] xref: DOID:10913 {source="MONDO:equivalentTo"} xref: ICD9:401.1 {source="DOID:10913", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:56371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -17072,7 +17073,7 @@ def: "Systematic and extensive loss of memory caused by organic or psychological subset: otar {source="MONDO:OTAR"} synonym: "amnesia" EXACT [DOID:10914] synonym: "amnesic syndrome" RELATED [] -synonym: "amnestic syndrome" EXACT [DOID:10914, NCIT:C35764] +synonym: "amnestic syndrome" EXACT [DOID:10914] synonym: "Korsakoff's psychosis or syndrome" EXACT [DOID:10914] xref: DOID:10914 {source="MONDO:equivalentTo"} xref: ICD10CM:R41.3 {source="DOID:10914"} @@ -17116,7 +17117,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Manchurian typhus" EXACT [DOID:10921] synonym: "North Asian tick fever" EXACT [DOID:10921, ICD9CM:082.2] -synonym: "North Asian tick fever (disorder) [ambiguous]" EXACT [DOID:10921] +synonym: "North Asian tick fever (disorder) [ambiguous]" EXACT [] synonym: "North Asian tick typhus" EXACT [DOID:10921] synonym: "Rickettsia sibirica spotted fever" EXACT [DOID:10921] xref: DOID:10921 {source="MONDO:equivalentTo"} @@ -17142,7 +17143,7 @@ synonym: "acute gastrojejunal ulcer with haemorrhage" EXACT OMO:0003005 [] synonym: "acute gastrojejunal ulcer with haemorrhage and obstruction" EXACT OMO:0003005 [] synonym: "acute gastrojejunal ulcer with haemorrhage and perforation" EXACT OMO:0003005 [] synonym: "acute gastrojejunal ulcer with haemorrhage and perforation, with obstruction" EXACT OMO:0003005 [] -synonym: "acute gastrojejunal ulcer with hemorrhage" EXACT [DOID:10927] +synonym: "acute gastrojejunal ulcer with hemorrhage" EXACT [DOID:10927, ICD10CM:K28.0] synonym: "acute gastrojejunal ulcer with hemorrhage and obstruction" EXACT [DOID:10927] synonym: "acute gastrojejunal ulcer with hemorrhage and perforation" EXACT [DOID:10927] synonym: "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction" EXACT [DOID:10927] @@ -17176,9 +17177,9 @@ is_a: MONDO:0004247 {source="DOID:10927"} ! peptic ulcer disease id: MONDO:0001156 name: borderline personality disorder def: "A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior." [NCIT:P378] -synonym: "borderline personality disorder" EXACT [MONDO:ambiguous] +synonym: "borderline personality disorder" EXACT [DOID:10930, icd11.foundation:189289487, MONDO:ambiguous, NCIT:C92633] synonym: "borderline personality disorder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "BPD" EXACT ABBREVIATION [NCIT:C92633] +synonym: "BPD" EXACT ABBREVIATION [] xref: DOID:10930 {source="MONDO:equivalentTo"} xref: HP:0012076 {source="MONDO:otherHierarchy"} xref: ICD10CM:F60.3 {source="DOID:10930"} @@ -17215,7 +17216,7 @@ id: MONDO:0001158 name: obsessive-compulsive personality disorder def: "A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics." [NCIT:P378] synonym: "anankastic personality disorder" RELATED [DOID:10932] -synonym: "obsessional personality" RELATED [DOID:10932] +synonym: "obsessional personality" RELATED [] synonym: "OCD" EXACT ABBREVIATION [NCIT:C92638] synonym: "OCPD" EXACT ABBREVIATION [DOID:10932] xref: DOID:10932 {source="MONDO:equivalentTo"} @@ -17241,7 +17242,7 @@ relationship: realized_in MFOMD:0000109 ! obsession id: MONDO:0001159 name: multiple personality disorder def: "A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition." [NCIT:P378] -synonym: "dissociative identity disorder" EXACT [DOID:10934, ICD9CM:300.14] +synonym: "dissociative identity disorder" EXACT [DOID:10934, ICD10CM:F44.81, ICD9CM:300.14, NCIT:C94330] xref: DOID:10934 {source="MONDO:equivalentTo"} xref: ICD10CM:F44.81 {source="MONDO:equivalentTo", source="DOID:10934"} xref: ICD9:300.14 {source="MONDO:equivalentTo", source="DOID:10934", source="MONDO:i2s"} @@ -17339,13 +17340,13 @@ is_a: MONDO:0002028 {source="DOID:10938", source="NCIT:C92630", source="icd11.fo id: MONDO:0001164 name: antisocial personality disorder def: "A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV)" [NCIT:P378] -synonym: "asocial personality" EXACT [DOID:10939] -synonym: "dissocial personality disorder" EXACT [DOID:10939] +synonym: "asocial personality" EXACT [DOID:10939, ICD10CM:F60.2] +synonym: "dissocial personality disorder" EXACT [DOID:10939, ICD10CM:F60.2, icd11.foundation:779282819] synonym: "psychopath.personality" EXACT [DOID:10939] -synonym: "psychopathic personality" EXACT [DOID:10939] -synonym: "psychopathic personality disorder" EXACT [DOID:10939] +synonym: "psychopathic personality" EXACT [DOID:10939, ICD10CM:F60.2] +synonym: "psychopathic personality disorder" EXACT [DOID:10939, icd11.foundation:779282819] synonym: "psychopathy" EXACT [NCIT:C88413] -synonym: "sociopathic personality" EXACT [DOID:10939] +synonym: "sociopathic personality" EXACT [DOID:10939, ICD10CM:F60.2] synonym: "Sociopathy" EXACT [NCIT:C88413] xref: DOID:10939 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.2 {source="MONDO:equivalentTo", source="DOID:10939"} @@ -17370,7 +17371,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of tongue" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of tongue" EXACT [] synonym: "disorder of tongue" EXACT [MONDO:patterns/location_top] -synonym: "tongue disease" EXACT [MONDO:patterns/location] +synonym: "tongue disease" EXACT [DOID:10944, MONDO:patterns/location] synonym: "tongue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:10944 {source="MONDO:equivalentTo"} xref: ICD10CM:K14 {source="DOID:10944"} @@ -17451,7 +17452,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9637/spastic id: MONDO:0001168 name: spastic hemiplegia def: "A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body." [NCIT:C116905] -synonym: "congenital hemiplegia" RELATED [DOID:10967] +synonym: "congenital hemiplegia" RELATED [] synonym: "hemiplegic cerebral palsy" EXACT [DOID:10967] synonym: "hemiplegic infantile cerebral palsy" EXACT [DOID:10967, ICD9CM:343.1] synonym: "spastic hemiplegic cerebral palsy" EXACT [DOID:10967] @@ -17538,7 +17539,7 @@ synonym: "salpingitis/oophoritis" EXACT [DOID:10972] synonym: "tubo ovarian abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4239651, SCTID:58949002] synonym: "tubo-ovarian abscess" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4239651, SCTID:58949002] synonym: "tubo-ovarian abscess (disorder)" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4239651, SCTID:58949002] -synonym: "Tubo-ovarian inflammatory disease" EXACT [DOID:10972] +synonym: "Tubo-ovarian inflammatory disease" EXACT [DOID:10972, NCIT:C171201] xref: DOID:10972 {source="MONDO:equivalentTo"} xref: ICD10CM:N70 {source="DOID:10972"} xref: ICD10CM:N70.9 {source="DOID:10972"} @@ -17764,7 +17765,7 @@ intersection_of: has_characteristic PATO:0001863 ! chronic id: MONDO:0001185 name: dissociative amnesia def: "A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition." [NCIT:P378] -synonym: "psychogenic amnesia" EXACT [DOID:11037] +synonym: "psychogenic amnesia" EXACT [DOID:11037, icd11.foundation:626975732] xref: DOID:11037 {source="MONDO:equivalentTo"} xref: ICD10CM:F44.0 {source="MONDO:equivalentTo", source="DOID:11037"} xref: icd11.foundation:626975732 {source="MONDO:equivalentTo"} @@ -17800,8 +17801,8 @@ id: MONDO:0001187 name: urinary bladder cancer def: "A primary or metastatic malignant neoplasm involving the bladder." [NCIT:C9334] subset: otar {source="MONDO:OTAR"} -synonym: "bladder cancer" RELATED EXCLUDE [DOID:11054] -synonym: "bladder cancer, somatic" EXACT [OMIM:109800, OMIM:genemap2] +synonym: "bladder cancer" RELATED EXCLUDE [] +synonym: "bladder cancer, somatic" EXACT [] synonym: "cancer of urinary bladder" EXACT [MONDO:patterns/cancer] synonym: "malignant bladder neoplasm" EXACT [NCIT:C9334] synonym: "malignant bladder tumor" EXACT [NCIT:C9334] @@ -17824,9 +17825,9 @@ synonym: "malignant tumour of urinary bladder" EXACT OMO:0003005 [] synonym: "malignant urinary bladder neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9334] synonym: "malignant urinary bladder tumor" EXACT [NCIT:C9334] synonym: "malignant urinary bladder tumour" EXACT OMO:0003005 [] -synonym: "tumor of the bladder" BROAD [DOID:11054, NCIT:C2901] +synonym: "tumor of the bladder" BROAD [] synonym: "tumour of the bladder" BROAD OMO:0003005 [] -synonym: "urinary bladder cancer" EXACT [MONDO:patterns/location] +synonym: "urinary bladder cancer" EXACT [DOID:11054, MONDO:patterns/location] synonym: "urinary bladder malignant neoplasm" EXACT [NCIT:C9334] synonym: "urinary bladder malignant tumor" EXACT [NCIT:C9334] synonym: "urinary bladder malignant tumour" EXACT OMO:0003005 [] @@ -17864,9 +17865,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "esophageal lymphoma" EXACT [NCIT:C5687] -synonym: "esophagus lymphoma" EXACT [MONDO:patterns/location, NCIT:C5687] +synonym: "esophagus lymphoma" EXACT [DOID:1106, MONDO:patterns/location, NCIT:C5687] synonym: "lymphoma of esophagus" EXACT [DOID:1106, NCIT:C5687] -synonym: "lymphoma of oesophagus" EXACT OMO:0003005 [] +synonym: "lymphoma of oesophagus" EXACT OMO:0003005 [DOID:1106] synonym: "lymphoma of the esophagus" EXACT [NCIT:C5687] synonym: "lymphoma of the oesophagus" EXACT OMO:0003005 [] synonym: "primary esophageal lymphoma" EXACT [NCIT:C5687] @@ -17927,17 +17928,17 @@ id: MONDO:0001192 name: esophageal melanoma def: "A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)" [NCIT:C5707] synonym: "esophageal melanoma" EXACT [NCIT:C5707] -synonym: "esophagus melanoma" EXACT [DOID:1108] +synonym: "esophagus melanoma" EXACT [DOID:1108, NCIT:C5707] synonym: "esophagus melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "melanoma (disease) of esophagus" EXACT [] synonym: "melanoma (disease) of oesophagus" EXACT OMO:0003005 [] synonym: "melanoma of esophagus" EXACT [DOID:1108, NCIT:C5707] -synonym: "melanoma of oesophagus" EXACT OMO:0003005 [] +synonym: "melanoma of oesophagus" EXACT OMO:0003005 [DOID:1108] synonym: "melanoma of the esophagus" EXACT [NCIT:C5707] synonym: "melanoma of the oesophagus" EXACT OMO:0003005 [] synonym: "mucosal melanoma of the esophagus" RELATED [ONCOTREE:ESMM] synonym: "mucosal melanoma of the oesophagus" RELATED OMO:0003005 [] -synonym: "oesophagus melanoma" EXACT OMO:0003005 [] +synonym: "oesophagus melanoma" EXACT OMO:0003005 [DOID:1108] synonym: "oesophagus melanoma (disease)" EXACT OMO:0003005 [] xref: DOID:1108 {source="MONDO:equivalentTo"} xref: MEDGEN:272590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -17984,12 +17985,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fever, spotted" RELATED [MESH:D000073605] synonym: "fevers, spotted" RELATED [MESH:D000073605] -synonym: "spotted fever" EXACT [MESH:D000073605] +synonym: "spotted fever" EXACT [DOID:11104, ICD10CM:A77, icd11.foundation:9953620, MESH:D000073605] synonym: "spotted fever group rickettsial disease" EXACT [DOID:11104] synonym: "spotted fever Group Rickettsioses" RELATED [MESH:D000073605] synonym: "spotted fever Group rickettsiosis" RELATED [MESH:D000073605] synonym: "spotted fever rickettsiae disease" EXACT [Orphanet:102022] -synonym: "spotted fever rickettsiosis" EXACT [MONDO:0015155] +synonym: "spotted fever rickettsiosis" EXACT [MONDO:0015155, Orphanet:102022] synonym: "spotted fevers" RELATED [MESH:D000073605] xref: DOID:11104 {source="MONDO:equivalentTo"} xref: EFO:1002047 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -18043,7 +18044,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "qualitative platelet defect" EXACT CLINGEN_LABEL [] +synonym: "qualitative platelet defect" EXACT CLINGEN_LABEL [DOID:11125] synonym: "qualitative platelet deficiency" EXACT [DOID:11125] xref: DOID:11125 {source="MONDO:equivalentTo"} xref: ICD10CM:D69.1 {source="DOID:11125"} @@ -18063,9 +18064,9 @@ def: "An instance of thrombocytopenia that is acquired during the lifetime of th subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired thrombocytopenia" EXACT [MONDO:patterns/acquired] +synonym: "acquired thrombocytopenia" EXACT [DOID:11126, icd11.foundation:526155201, MONDO:patterns/acquired] synonym: "secondary thrombocytopenia" EXACT [DOID:11126, ICD9CM:287.4] -synonym: "secondary thrombocytopenia NOS" RELATED EXCLUDE [DOID:11126] +synonym: "secondary thrombocytopenia NOS" RELATED EXCLUDE [] xref: DOID:11126 {source="MONDO:equivalentTo"} xref: ICD10CM:D69.5 {source="DOID:11126"} xref: icd11.foundation:526155201 {source="MONDO:equivalentTo"} @@ -18129,7 +18130,7 @@ replaced_by: MONDO:0010811 [Term] id: MONDO:0001202 name: prostatic cyst -synonym: "cyst of prostate" EXACT [DOID:11133, ICD9CM:600.3] +synonym: "cyst of prostate" EXACT [DOID:11133, ICD10CM:N42.83, ICD9CM:600.3] xref: DOID:11133 {source="MONDO:equivalentTo"} xref: ICD10CM:N42.83 {source="MONDO:equivalentTo", source="DOID:11133"} xref: ICD9:599.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -18158,8 +18159,8 @@ name: esophagus sarcoma def: "A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "esophageal sarcoma" EXACT [DOID:1114, NCIT:C5341] -synonym: "esophagus sarcoma" EXACT [MONDO:patterns/location, NCIT:C5341] +synonym: "esophageal sarcoma" EXACT [NCIT:C5341] +synonym: "esophagus sarcoma" EXACT [DOID:1114, MONDO:patterns/location, NCIT:C5341] synonym: "sarcoma of esophagus" EXACT [MONDO:patterns/sarcoma, NCIT:C5341] synonym: "sarcoma of oesophagus" EXACT OMO:0003005 [] synonym: "sarcoma of the esophagus" EXACT [NCIT:C5341] @@ -18200,7 +18201,7 @@ is_a: MONDO:0005041 {source="DOID:11149"} ! glaucoma [Term] id: MONDO:0001207 name: neonatal respiratory failure -synonym: "respiratory failure of newborn" EXACT [DOID:11161, ICD9CM:770.84] +synonym: "respiratory failure of newborn" EXACT [DOID:11161, ICD10CM:P28.5, ICD9CM:770.84] xref: DOID:11161 {source="MONDO:equivalentTo"} xref: ICD10CM:P28.5 {source="DOID:11161", source="MONDO:equivalentTo"} xref: ICD9:770.84 {source="DOID:11161"} @@ -18215,7 +18216,7 @@ id: MONDO:0001208 name: acute respiratory failure def: "Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock." [NCIT:C27043] subset: otar {source="MONDO:OTAR"} -synonym: "acute respiratory failure" EXACT [NCIT:C27043] +synonym: "acute respiratory failure" EXACT [icd11.foundation:875272781, NCIT:C27043] synonym: "respiratory failure, acute" EXACT [MONDO:patterns/acute] xref: icd11.foundation:875272781 {source="MONDO:equivalentTo"} xref: ICD9:518.81 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -18233,7 +18234,7 @@ id: MONDO:0001209 name: common wart def: "A wart caused by human papillomavirus. It can appear anywhere on the skin." [NCIT:C27087] subset: otar {source="MONDO:OTAR"} -synonym: "common wart" EXACT [NCIT:C27087] +synonym: "common wart" EXACT [DOID:11165, NCIT:C27087] synonym: "verruca vulgaris" EXACT [NCIT:C27087] synonym: "viral wart" RELATED [] synonym: "viral Warts" RELATED [] @@ -18269,7 +18270,7 @@ relationship: disease_has_infectious_agent NCBITaxon:173087 ! Human papillomavir id: MONDO:0001210 name: enophthalmos def: "Abnormal recession of the eyeball within the eye socket." [NCIT:P378] -synonym: "enophthalmos" EXACT [MONDO:ambiguous] +synonym: "enophthalmos" EXACT [DOID:11175, MONDO:ambiguous] synonym: "enophthalmos (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:11175 {source="MONDO:equivalentTo"} xref: HP:0000490 {source="MONDO:otherHierarchy"} @@ -18482,15 +18483,15 @@ id: MONDO:0001221 name: esophageal varices def: "Abnormally dilated veins of the esophagus." [NCIT:C53506] subset: otar {source="MONDO:OTAR"} -synonym: "bleeding esophageal varices" NARROW [DOID:112] -synonym: "bleeding oesophageal varices" NARROW [DOID:112] -synonym: "esophageal varices" EXACT [DOID:112, NCIT:C53506] +synonym: "bleeding esophageal varices" NARROW [] +synonym: "bleeding oesophageal varices" NARROW [] +synonym: "esophageal varices" EXACT [DOID:112, ICD10CM:I85, NCIT:C53506] synonym: "esophageal varices in disease classified elsewhere, with bleeding" EXACT [DOID:112] -synonym: "esophageal varices with bleeding" RELATED EXCLUDE [DOID:112] +synonym: "esophageal varices with bleeding" RELATED EXCLUDE [] synonym: "esophageal varices with bleeding in disease EC" EXACT [DOID:112] -synonym: "esophageal varices without bleeding" RELATED EXCLUDE [DOID:112] +synonym: "esophageal varices without bleeding" RELATED EXCLUDE [] synonym: "esophageal varices without mention of bleeding" EXACT [DOID:112] -synonym: "esophageal varix" EXACT [NCIT:C53506] +synonym: "esophageal varix" EXACT [DOID:112, NCIT:C53506] synonym: "esophagus varicose disease" EXACT [MONDO:patterns/location] synonym: "oesophagus varicose disease" EXACT OMO:0003005 [] synonym: "varicose disease of esophagus" EXACT [MONDO:design_pattern] @@ -18525,7 +18526,7 @@ name: congenital T-cell immunodeficiency def: "A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." [NCIT:C27872] subset: otar {source="MONDO:OTAR"} synonym: "congenital T-cell immunodeficiency" EXACT [NCIT:C27872] -synonym: "T cell deficiency" RELATED [DOID:11200] +synonym: "T cell deficiency" RELATED [] xref: DOID:11200 {source="MONDO:equivalentTo"} xref: MEDGEN:232099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27872 {source="NCIT:C27872", source="MONDO:equivalentTo", source="DOID:11200"} @@ -18545,7 +18546,7 @@ synonym: "disease of parathyroid glands" EXACT [DOID:11201] synonym: "disease or disorder of parathyroid gland" EXACT [] synonym: "disorder of parathyroid gland" EXACT [MONDO:patterns/location_top] synonym: "parathyroid disease" EXACT [MONDO:0005553] -synonym: "parathyroid gland disease" EXACT [MONDO:patterns/location, NCIT:C26844] +synonym: "parathyroid gland disease" EXACT [DOID:11201, MONDO:patterns/location, NCIT:C26844] synonym: "parathyroid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "parathyroid gland diseases" EXACT [NCIT:C26844] synonym: "parathyroid gland disorder" EXACT [NCIT:C26844] @@ -18571,9 +18572,9 @@ intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland id: MONDO:0001224 name: Angelucci syndrome def: "Atopic conjunctivitis that is of relatively short duration and that has a rapid onset." [NCIT:P378] -synonym: "acute atopic conjunctivitis" EXACT [DOID:11203] +synonym: "acute atopic conjunctivitis" EXACT [DOID:11203, ICD10CM:H10.1, NCIT:C34353] synonym: "Angelucci syndrome" EXACT [DOID:11203] -synonym: "Angelucci's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Angelucci's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:11203, MONDO:LexicalVariant] xref: DOID:11203 {source="MONDO:equivalentTo"} xref: ICD10CM:H10.1 {source="DOID:11203", source="MONDO:equivalentTo"} xref: ICD9:372.05 {source="DOID:11203", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -18601,10 +18602,10 @@ is_a: MONDO:0002491 {source="DOID:11206"} ! substance abuse id: MONDO:0001226 name: acute contagious conjunctivitis def: "Acute inflammation of the conjunctiva characterized by pink or red color in the eyes." [NCIT:P378] -synonym: "conjunctivitis infective" EXACT [NCIT:C35704] +synonym: "conjunctivitis infective" EXACT [] synonym: "Contagious opthalmia" EXACT [DOID:11213] -synonym: "pink eye" RELATED EXCLUDE [DOID:11213] -synonym: "pinkeye" EXACT [DOID:11213] +synonym: "pink eye" RELATED EXCLUDE [] +synonym: "pinkeye" EXACT [DOID:11213, NCIT:C35704] xref: DOID:11213 {source="MONDO:equivalentTo"} xref: ICD9:041.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:272038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -18654,7 +18655,7 @@ def: "A diverticulitis that involves the small intestine." [MONDO:patterns/locat synonym: "diverticulitis of small intestine" EXACT [MONDO:design_pattern] synonym: "diverticulosis of small intestine with haemorrhage" EXACT OMO:0003005 [] synonym: "diverticulosis of small intestine with hemorrhage" EXACT [DOID:11223] -synonym: "small intestine diverticulitis" EXACT [MONDO:patterns/location] +synonym: "small intestine diverticulitis" EXACT [DOID:11223, MONDO:patterns/location] xref: DOID:11223 {source="MONDO:equivalentTo"} xref: ICD9:562.01 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:562.02 {source="DOID:11223"} @@ -18723,8 +18724,8 @@ is_a: MONDO:0001230 {source="DOID:11233"} ! acute orbital inflammation id: MONDO:0001234 name: adhesive otitis media def: "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear." [DOID:11235, Wikipedia:Otitis_media#Adhesive_otitis_media] -synonym: "adhesive middle ear disease" EXACT [] -synonym: "adhesive otitis media" EXACT [] +synonym: "adhesive middle ear disease" EXACT [ICD10CM:H74.1] +synonym: "adhesive otitis media" EXACT [DOID:11235] synonym: "chronic adhesive otitis media" EXACT [DOID:11235] synonym: "fibrotic adhesive otitis media" RELATED [] xref: DOID:11235 {source="MONDO:equivalentTo"} @@ -18743,7 +18744,7 @@ id: MONDO:0001235 name: appendix cancer def: "A malignant neoplasm involving the vermiform appendix" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of the appendix" EXACT [DOID:11239, NCIT:C9330] +synonym: "cancer of the appendix" EXACT [DOID:11239] synonym: "cancer of vermiform appendix" EXACT [MONDO:patterns/cancer] synonym: "malignant appendix neoplasm" EXACT [NCIT:C9333] synonym: "malignant appendix tumor" EXACT [NCIT:C9333] @@ -18752,7 +18753,7 @@ synonym: "malignant neoplasm of appendix" EXACT [NCIT:C9333] synonym: "malignant neoplasm of appendix vermiformis" EXACT [DOID:11239, ICD9CM:153.5, NCIT:C9333] synonym: "malignant neoplasm of the appendix" EXACT [NCIT:C9333] synonym: "malignant neoplasm of vermiform appendix" EXACT [MONDO:patterns/cancer] -synonym: "malignant tumor of appendix" EXACT [NCIT:C9333] +synonym: "malignant tumor of appendix" EXACT [DOID:11239, NCIT:C9333] synonym: "malignant tumor of the appendix" EXACT [DOID:11239, NCIT:C9333] synonym: "malignant tumour of appendix" EXACT OMO:0003005 [] synonym: "malignant tumour of the appendix" EXACT OMO:0003005 [] @@ -18780,7 +18781,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "appendix neoplasm" EXACT [DOID:11240, NCIT:C4434] synonym: "appendix tumor" EXACT [NCIT:C4434] synonym: "appendix tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of appendix" EXACT [NCIT:C4434] +synonym: "neoplasm of appendix" EXACT [DOID:11240, NCIT:C4434] synonym: "neoplasm of the appendix" EXACT [NCIT:C4434] synonym: "neoplasm of vermiform appendix" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of appendix" EXACT [NCIT:C4434] @@ -18812,7 +18813,7 @@ def: "A lymphoma arising from the appendix. The majority of lymphomas affecting subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "appendiceal lymphoma" EXACT [DOID:11241, NCIT:C5513] -synonym: "appendix lymphoma" EXACT [NCIT:C5513] +synonym: "appendix lymphoma" EXACT [DOID:11241, NCIT:C5513] synonym: "lymphoma of appendix" EXACT [NCIT:C5513] synonym: "lymphoma of the appendix" EXACT [NCIT:C5513] synonym: "lymphoma of vermiform appendix" EXACT [MONDO:design_pattern] @@ -18833,9 +18834,9 @@ name: polycythemia neonatorum def: "A condition in which the red blood cell level is greater than established reference ranges in a newborn." [NCIT:C27069] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "neonatal polycythemia" EXACT [NCIT:C27069] -synonym: "plethora of newborn" RELATED [DOID:11242] -synonym: "polycythemia neonatorum" EXACT [NCIT:C27069] +synonym: "neonatal polycythemia" EXACT [DOID:11242, NCIT:C27069] +synonym: "plethora of newborn" RELATED [] +synonym: "polycythemia neonatorum" EXACT [ICD10CM:P61.1, NCIT:C27069] synonym: "polycythemia of the newborn" EXACT [NCIT:C27069] xref: DOID:11242 {source="MONDO:equivalentTo"} xref: ICD10CM:P61.1 {source="MONDO:equivalentTo", source="DOID:11242"} @@ -18873,7 +18874,7 @@ def: "The mildest form of erythroblastosis fetalis in which anemia is the chief subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anaemia neonatal" EXACT OMO:0003005 [] +synonym: "anaemia neonatal" EXACT OMO:0003005 [DOID:11244] synonym: "anemia neonatal" EXACT [DOID:11244, MTH:NOCODE] xref: DOID:11244 {source="MONDO:equivalentTo"} xref: MEDGEN:1530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -18907,7 +18908,7 @@ def: "A clotting condition characterized as a disruption in the homeostatic bala subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "DIC in newborn" EXACT [DOID:11246] -synonym: "disseminated intravascular coagulation in newborn" EXACT [DOID:11246, ICD9CM:776.2] +synonym: "disseminated intravascular coagulation in newborn" EXACT [DOID:11246, ICD9CM:776.2, NCIT:C111856] synonym: "neonatal disseminated intravascular coagulation" EXACT [NCIT:C111856] xref: DOID:11246 {source="MONDO:equivalentTo"} xref: ICD10CM:P60 {source="DOID:11246"} @@ -18924,15 +18925,15 @@ name: disseminated intravascular coagulation def: "A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage." [NCIT:C2992] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "coagulation (DIC), disseminated intravascular" EXACT [NCIT:C2992] +synonym: "coagulation (DIC), disseminated intravascular" EXACT [] synonym: "consumptive coagulopathy" EXACT [NCIT:C2992] -synonym: "defibrination syndrome" EXACT [DOID:11247, ICD9CM:286.6] +synonym: "defibrination syndrome" EXACT [DOID:11247, icd11.foundation:1622289887, ICD9CM:286.6] synonym: "DIC" EXACT ABBREVIATION [DOID:11247, NCIT:C2992] -synonym: "DIC, disseminated intravascular coagulation" EXACT [NCIT:C2992] +synonym: "DIC, disseminated intravascular coagulation" EXACT [] synonym: "diffuse or disseminated intravascular coagulation" EXACT [DOID:11247] -synonym: "disseminated intravascular coagulation" EXACT [NCIT:C2992] +synonym: "disseminated intravascular coagulation" EXACT [DOID:11247, icd11.foundation:1622289887, NCIT:C2992] synonym: "disseminated intravascular coagulation (DIC)" EXACT [NCIT:C2992] -synonym: "intravascular coagulation (DIC), disseminated" EXACT [NCIT:C2992] +synonym: "intravascular coagulation (DIC), disseminated" EXACT [] xref: DOID:11247 {source="MONDO:equivalentTo"} xref: ICD10CM:D65 {source="DOID:11247"} xref: icd11.foundation:1622289887 {source="MONDO:equivalentTo"} @@ -18952,7 +18953,7 @@ relationship: has_characteristic MONDO:0022202 ! disseminated id: MONDO:0001244 name: vitamin K deficiency hemorrhagic disease def: "Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding." [NCIT:C99108] -synonym: "deficiency of vitamin K" EXACT [DOID:11249, ICD9CM:269.0] +synonym: "deficiency of vitamin K" EXACT [DOID:11249, ICD10CM:E56.1, ICD9CM:269.0] synonym: "vitamin K deficiency" EXACT [DOID:11249, NCIT:C99108] synonym: "vitamin K deficiency coagulation disorder" EXACT [NCIT:C99108] xref: DOID:11249 {source="MONDO:equivalentTo"} @@ -18997,28 +18998,28 @@ subset: ordo_group_of_disorders {source="Orphanet:102023"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "classical typhus" RELATED [DOID:11256] -synonym: "classical typhus (fever)" RELATED [DOID:11256] -synonym: "endemic flea-borne typhus" NARROW [DOID:11256] -synonym: "endemic typhus fever" NARROW [DOID:11256] +synonym: "classical typhus (fever)" RELATED [] +synonym: "endemic flea-borne typhus" NARROW [] +synonym: "endemic typhus fever" NARROW [] synonym: "epidemic (louse-borne) typhus" RELATED [DOID:11256] -synonym: "epidemic louse-borne typhus" NARROW [DOID:11256] +synonym: "epidemic louse-borne typhus" NARROW [] synonym: "epidemic louse-borne typhus fever due to Rickettsia prowazekii" RELATED [DOID:11256] synonym: "European typhus" RELATED [DOID:11256] -synonym: "exanthematic typhus fever" NARROW [DOID:11256] +synonym: "exanthematic typhus fever" NARROW [] synonym: "exanthematous typhus" RELATED [DOID:11256] synonym: "famine fever" RELATED [DOID:11256] -synonym: "flea typhus" NARROW [DOID:11256] +synonym: "flea typhus" NARROW [] synonym: "flea-borne rickettsiosis" RELATED [DOID:11256] synonym: "flea-borne typhus" RELATED [DOID:11256] synonym: "gaol fever" RELATED OMO:0003005 [] synonym: "hospital fever" RELATED [DOID:11256] synonym: "jail fever" RELATED [DOID:11256] -synonym: "louse-borne [epidemic] typhus" NARROW [DOID:11256, ICD9CM:080] +synonym: "louse-borne [epidemic] typhus" NARROW [ICD9CM:080] synonym: "louse-borne rickettsiosis" RELATED [DOID:11256] synonym: "louse-borne typhus" RELATED [DOID:11256] synonym: "Mexican typhus" RELATED [DOID:11256] -synonym: "Moscow typhus" RELATED [DOID:11256] -synonym: "murine [endemic] typhus" NARROW [DOID:11256, ICD9CM:081.0] +synonym: "Moscow typhus" RELATED [] +synonym: "murine [endemic] typhus" NARROW [ICD9CM:081.0] synonym: "murine typhus" RELATED [DOID:11256] synonym: "petechial fever" RELATED [DOID:11256] synonym: "prison fever" RELATED [DOID:11256] @@ -19026,9 +19027,9 @@ synonym: "rat flea typhus" RELATED [DOID:11256] synonym: "ship fever" RELATED [DOID:11256] synonym: "shop typhus" RELATED [DOID:11256] synonym: "typhus exanthematique" RELATED [DOID:11256] -synonym: "typhus fever" EXACT [DOID:11256] +synonym: "typhus fever" EXACT [DOID:11256, icd11.foundation:292650041] synonym: "typhus-group rickettsiae disease" EXACT [Orphanet:102023] -synonym: "typhus-group rickettsiosis" EXACT [MONDO:0015156] +synonym: "typhus-group rickettsiosis" EXACT [MONDO:0015156, Orphanet:102023] synonym: "Urban typhus" RELATED [DOID:11256] xref: DOID:11256 {source="MONDO:equivalentTo"} xref: EFO:0009117 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -19167,7 +19168,7 @@ name: Plummer disease def: "Nodular enlargement of the thyroid gland associated with hyperthyroidism." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "Plummer disease" EXACT [DOID:11277] -synonym: "Plummer's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Plummer's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:11277, MONDO:LexicalVariant] synonym: "Toxic goiter" EXACT [NCIT:C35171] synonym: "Toxic goitre" EXACT OMO:0003005 [] synonym: "toxic nodular goiter" EXACT [DOID:11277, NCIT:C35171] @@ -19188,7 +19189,7 @@ is_a: MONDO:0004425 {source="DOID:11277", source="EFO:0009191", source="NCIT:C35 [Term] id: MONDO:0001253 name: obsolete solar retinopathy -synonym: "solar retinitis" EXACT [DOID:11282] +synonym: "solar retinitis" EXACT [] xref: DOID:11282 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H31.02 {source="DOID:11282"} xref: ICD9:363.31 {source="DOID:11282"} @@ -19228,15 +19229,15 @@ def: "A benign vascular lesion characterized by the presence of a complex networ comment: Editor note: NCIT conflates hemangioma and malformation subset: otar {source="MONDO:OTAR"} synonym: "arteriovenous angioma" EXACT [NCIT:C2882] -synonym: "arteriovenous hemangioma" EXACT [NCIT:C2882] +synonym: "arteriovenous hemangioma" EXACT [DOID:11294, NCIT:C2882] synonym: "arteriovenous hemangioma/malformation" EXACT [NCIT:C2882] -synonym: "arteriovenous malformation" RELATED [DOID:11294] -synonym: "cirsoid aneurysm" RELATED [DOID:11294] +synonym: "arteriovenous malformation" RELATED [] +synonym: "cirsoid aneurysm" RELATED [] synonym: "racemose aneurysm" EXACT [DOID:11294] -synonym: "racemose aneurysm (morphologic abnormality)" EXACT [DOID:11294] -synonym: "racemose angioma" EXACT [DOID:11294, NCIT:C4297] -synonym: "racemose hemangioma" EXACT [NCIT:C2882] -synonym: "racemose hemangioma (morphologic abnormality)" EXACT [DOID:11294] +synonym: "racemose aneurysm (morphologic abnormality)" EXACT [] +synonym: "racemose angioma" EXACT [DOID:11294, NCIT:C2882] +synonym: "racemose hemangioma" EXACT [DOID:11294, NCIT:C2882] +synonym: "racemose hemangioma (morphologic abnormality)" EXACT [] xref: CSP:0571-2717 {source="DOID:11294"} xref: DOID:11294 {source="MONDO:equivalentTo"} xref: HP:0100026 {source="MONDO:otherHierarchy", source="DOID:11294"} @@ -19269,7 +19270,7 @@ relationship: disease_has_location UBERON:0004864 ! vasculature of retina [Term] id: MONDO:0001258 name: vertebral artery occlusion -synonym: "occlusion and stenosis of vertebral artery" EXACT [DOID:11299] +synonym: "occlusion and stenosis of vertebral artery" EXACT [DOID:11299, ICD10CM:I65.0] synonym: "vertebral artery occlusion" EXACT [DOID:11299] synonym: "vertebrobasial artery occlusion" RELATED [] xref: DOID:11299 {source="MONDO:equivalentTo"} @@ -19291,7 +19292,7 @@ id: MONDO:0001259 name: pituitary gland infarction def: "Ischemic necrosis of the pituitary gland." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "pituitary gland infarction" EXACT [NCIT:C27117] +synonym: "pituitary gland infarction" EXACT [icd11.foundation:765046957, NCIT:C27117] synonym: "pituitary infarct" EXACT [DOID:1130] synonym: "pituitary infarction" EXACT [DOID:1130, NCIT:C27117] xref: DOID:1130 {source="MONDO:equivalentTo"} @@ -19370,7 +19371,7 @@ name: African histoplasmosis def: "An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii." [MONDO:patterns/specific_infectious_disease_by_agent] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "African histoplasmosis" EXACT [] +synonym: "African histoplasmosis" EXACT [DOID:11315] synonym: "Histoplasma capsulatum var. duboisii caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Histoplasma capsulatum var. duboisii disease or disorder" EXACT [] synonym: "Histoplasma capsulatum var. duboisii infectious disease" EXACT [] @@ -19462,10 +19463,10 @@ replaced_by: MONDO:0015306 id: MONDO:0001268 name: gingival recession def: "A loss of gum tissue resulting in an exposure of the roots of the teeth." [NCIT:P378] -synonym: "gingival recession" EXACT [DOID:1134, ICD9CM:523.2] +synonym: "gingival recession" EXACT [DOID:1134, ICD10CM:K06.0, icd11.foundation:1059404242, ICD9CM:523.2] synonym: "gingival recession, localised" EXACT OMO:0003005 [] synonym: "gingival recession, localized" EXACT [DOID:1134, ICD9CM:523.24] -synonym: "gingival recession, unspecified" EXACT [DOID:1134, ICD9CM:523.20] +synonym: "gingival recession, unspecified" EXACT [ICD9CM:523.20] synonym: "localised gingival recession" EXACT OMO:0003005 [] synonym: "localized gingival recession" EXACT [DOID:1134] synonym: "minimal gingival recession" EXACT [DOID:1134] @@ -19534,7 +19535,7 @@ is_a: MONDO:0007197 {source="DOID:11354"} ! bladder diverticulum id: MONDO:0001271 name: lens subluxation def: "A partial dislocation of the lens of the eye." [NCIT:P378] -synonym: "lens subluxation" EXACT [MONDO:ambiguous] +synonym: "lens subluxation" EXACT [DOID:11364, MONDO:ambiguous, NCIT:C34772] synonym: "lens subluxation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "subluxation of lens" EXACT [DOID:11364, ICD9CM:379.32] xref: DOID:11364 {source="MONDO:equivalentTo"} @@ -19626,7 +19627,7 @@ id: MONDO:0001276 name: expressive language disorder def: "A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)." [NCIT:C92562] synonym: "developmental expressive language disorder" EXACT [DOID:11385] -synonym: "expressive language disorder" EXACT [NCIT:C92562] +synonym: "expressive language disorder" EXACT [DOID:11385, ICD10CM:F80.1, NCIT:C92562] xref: DOID:11385 {source="MONDO:equivalentTo"} xref: ICD10CM:F80.1 {source="MONDO:equivalentTo", source="DOID:11385"} xref: ICD9:315.31 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11385"} @@ -19673,7 +19674,7 @@ subset: rare synonym: "intraspinal meningioma" EXACT [NCIT:C5134] synonym: "meningioma of spinal canal and spinal cord" EXACT [NCIT:C5134] synonym: "meningioma of the spinal canal and spinal cord" EXACT [NCIT:C5134] -synonym: "spinal canal and spinal cord meningioma" EXACT [NCIT:C5134] +synonym: "spinal canal and spinal cord meningioma" EXACT [DOID:1140, NCIT:C5134] xref: DOID:1140 {source="MONDO:equivalentTo"} xref: MEDGEN:272774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5134 {source="MONDO:equivalentTo", source="DOID:1140"} @@ -19693,9 +19694,9 @@ subset: ordo_group_of_disorders {source="Orphanet:280892"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Choroiditides" EXACT [MESH:D002833] -synonym: "choroiditis" EXACT [NCIT:C35111, Orphanet:280892] +synonym: "choroiditis" EXACT [DOID:11406, icd11.foundation:1884626736, NCIT:C35111, Orphanet:280892] synonym: "Posterior Uveitis" RELATED [NORD:1601] -synonym: "posterior uveitis" RELATED [MONDO:ambiguous, NCIT:C35111] +synonym: "posterior uveitis" RELATED [MONDO:ambiguous] synonym: "posterior uveitis (disease)" RELATED [MONDO:0017254] xref: DOID:11406 {source="MONDO:equivalentTo"} xref: GARD:4457 {source="MONDO:GARD"} @@ -19742,7 +19743,7 @@ def: "Endometriosis that affects the fallopian tube. Symptoms include infertilit subset: otar {source="MONDO:OTAR"} synonym: "endometriosis (disease) of fallopian tube" EXACT [] synonym: "endometriosis of fallopian tube" EXACT [DOID:11424, ICD9CM:617.2] -synonym: "fallopian tube endometriosis" EXACT [NCIT:C26763] +synonym: "fallopian tube endometriosis" EXACT [DOID:11424, NCIT:C26763] synonym: "fallopian tube endometriosis (disease)" EXACT [MONDO:patterns/location] xref: DOID:11424 {source="MONDO:equivalentTo"} xref: ICD10CM:N80.2 {source="DOID:11424"} @@ -19761,7 +19762,7 @@ id: MONDO:0001283 name: endosalpingiosis def: "A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain." [NCIT:C40121] comment: endosalpingiosis is not a variant of endometriosis - PMID:22819185 -synonym: "endosalpingiosis" EXACT [NCIT:C40121] +synonym: "endosalpingiosis" EXACT [DOID:11427] xref: DOID:11427 {source="MONDO:equivalentTo"} xref: MEDGEN:78704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40121 {source="DOID:11427", source="MONDO:equivalentTo"} @@ -19813,8 +19814,8 @@ intersection_of: disease_has_location UBERON:0002358 ! peritoneum id: MONDO:0001286 name: exotropia def: "A form of strabismus in which the eyes are deviated laterally." [NCIT:P378] -synonym: "divergent concomitant strabismus" EXACT [DOID:1143] -synonym: "divergent strabismus" EXACT [DOID:1143, NCIT:C34601] +synonym: "divergent concomitant strabismus" EXACT [DOID:1143, ICD10CM:H50.1, icd11.foundation:2116859618] +synonym: "divergent strabismus" EXACT [DOID:1143, icd11.foundation:2116859618, NCIT:C34601] xref: DOID:1143 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.1 {source="DOID:1143", source="MONDO:equivalentTo"} xref: ICD10CM:H50.10 {source="DOID:1143"} @@ -19836,7 +19837,7 @@ is_a: MONDO:0003432 {source="DOID:1143", source="NCIT:C34601"} ! strabismus [Term] id: MONDO:0001287 name: endometriosis in cutaneous scar -synonym: "endometriosis in scar of skin" EXACT [] +synonym: "endometriosis in scar of skin" EXACT [DOID:11430, icd11.foundation:1586348950] synonym: "scar endometriosis" RELATED [] xref: DOID:11430 {source="MONDO:equivalentTo"} xref: ICD10CM:N80.6 {source="MONDO:equivalentTo", source="DOID:11430"} @@ -19914,8 +19915,8 @@ synonym: "autonomic disease" RELATED [MESH:D001342] synonym: "autonomic diseases" RELATED [MESH:D001342] synonym: "autonomic dysfunction, segmental" RELATED [MESH:D001342] synonym: "autonomic dysfunctions, segmental" RELATED [MESH:D001342] -synonym: "autonomic nervous disease" EXACT [DOID:11465] -synonym: "autonomic nervous system disease" EXACT [MONDO:patterns/location] +synonym: "autonomic nervous disease" EXACT [] +synonym: "autonomic nervous system disease" EXACT [DOID:11465, MONDO:patterns/location] synonym: "autonomic nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "autonomic nervous system disorder" EXACT [DOID:11465] synonym: "autonomic nervous system disorders" RELATED [MESH:D001342] @@ -19956,7 +19957,7 @@ name: subglottis cancer def: "A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas." [NCIT:P378] synonym: "Ca larynx - subglottis" EXACT [DOID:11472] synonym: "cancer of subglottis" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of subglottis" EXACT [MONDO:patterns/cancer, NCIT:C3546] +synonym: "malignant neoplasm of subglottis" EXACT [ICD10CM:C32.2, MONDO:patterns/cancer, NCIT:C3546] synonym: "malignant neoplasm of the subglottis" EXACT [NCIT:C3546] synonym: "malignant subglottic neoplasm" EXACT [NCIT:C3546] synonym: "malignant subglottic tumor" EXACT [DOID:11472, NCIT:C3546] @@ -19964,11 +19965,11 @@ synonym: "malignant subglottic tumour" EXACT OMO:0003005 [] synonym: "malignant subglottis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3546] synonym: "malignant subglottis tumor" EXACT [NCIT:C3546] synonym: "malignant subglottis tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of subglottis" EXACT [NCIT:C3546] +synonym: "malignant tumor of subglottis" EXACT [DOID:11472, NCIT:C3546] synonym: "malignant tumor of the subglottis" EXACT [NCIT:C3546] synonym: "malignant tumour of subglottis" EXACT OMO:0003005 [] synonym: "malignant tumour of the subglottis" EXACT OMO:0003005 [] -synonym: "subglottis cancer" EXACT [MONDO:patterns/location] +synonym: "subglottis cancer" EXACT [DOID:11472, MONDO:patterns/location] xref: DOID:11472 {source="MONDO:equivalentTo"} xref: ICD10CM:C32.2 {source="MONDO:equivalentTo", source="DOID:11472"} xref: ICD9:161.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11472"} @@ -19994,8 +19995,8 @@ subset: rare synonym: "Bernard Horner syndrome" EXACT [DOID:11486] synonym: "Bernard-Horner syndrome" RELATED [GARD:0006670] synonym: "cervical sympathetic paralysis" EXACT [DOID:11486] -synonym: "Horner syndrome" EXACT [DOID:11486] -synonym: "Horner's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Horner syndrome" EXACT [DOID:11486, icd11.foundation:178756462, NCIT:C28155] +synonym: "Horner's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:11486, MONDO:LexicalVariant, NCIT:C28155] synonym: "oculosympathetic palsy" RELATED [GARD:0006670] xref: DOID:11486 {source="MONDO:equivalentTo"} xref: ICD10CM:G90.2 {source="DOID:11486"} @@ -20034,7 +20035,7 @@ relationship: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0001296 name: acquired night blindness def: "An instance of night blindness that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] -synonym: "acquired night blindness" EXACT [MONDO:patterns/acquired] +synonym: "acquired night blindness" EXACT [DOID:11491, ICD10CM:H53.62, icd11.foundation:1609326234, MONDO:patterns/acquired] xref: DOID:11491 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.62 {source="DOID:11491", source="MONDO:equivalentTo"} xref: icd11.foundation:1609326234 {source="MONDO:equivalentTo"} @@ -20052,7 +20053,7 @@ id: MONDO:0001297 name: cardiac tamponade def: "Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "pericardial tamponade" EXACT [DOID:115] +synonym: "pericardial tamponade" EXACT [DOID:115, icd11.foundation:216782575, NCIT:C50481] synonym: "rose's tamponade" EXACT [DOID:115] xref: DOID:115 {source="MONDO:equivalentTo"} xref: EFO:1001285 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -20120,7 +20121,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autonomic nervous system peripheral neuropathy" EXACT [MONDO:patterns/location] -synonym: "autonomic peripheral neuropathy" EXACT [MONDO:0000604] +synonym: "autonomic peripheral neuropathy" EXACT [DOID:0060054, MONDO:0000604] synonym: "peripheral neuropathy of autonomic nervous system" EXACT [MONDO:design_pattern] xref: CSP:2042-2001 {source="DOID:11504"} xref: CSP:2049-9000 {source="DOID:11504"} @@ -20162,7 +20163,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "hypertensive cardiomegaly" RELATED [] synonym: "hypertensive cardiopathy" RELATED [] synonym: "hypertensive cardiovascular disease" RELATED [] -synonym: "hypertensive heart disease" EXACT [] +synonym: "hypertensive heart disease" EXACT [DOID:11516, icd11.foundation:1210166201] xref: DOID:11516 {source="MONDO:equivalentTo"} xref: ICD10CM:I11 {source="DOID:11516"} xref: ICD10CM:I11.9 {source="DOID:11516"} @@ -20183,7 +20184,7 @@ intersection_of: disease_arises_from_feature MONDO:0005044 ! hypertensive disord [Term] id: MONDO:0001303 name: abnormal pupillary function -synonym: "abnormal pupillary function" EXACT [MONDO:ambiguous] +synonym: "abnormal pupillary function" EXACT [DOID:11518, MONDO:ambiguous] synonym: "abnormal pupillary function (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:11518 {source="MONDO:equivalentTo"} xref: HP:0007686 {source="MONDO:otherHierarchy"} @@ -20214,7 +20215,7 @@ relationship: excluded_subClassOf MONDO:0001105 {source="DOID:11520", source="ht id: MONDO:0001305 name: laryngostenosis def: "Narrowing of the laryngeal airway." [NCIT:P378] -synonym: "stenosis of larynx" EXACT [DOID:11527] +synonym: "stenosis of larynx" EXACT [DOID:11527, ICD10CM:J38.6] xref: DOID:11527 {source="MONDO:equivalentTo"} xref: HP:0001602 {source="MONDO:otherHierarchy"} xref: ICD10CM:J38.6 {source="DOID:11527", source="MONDO:equivalentTo"} @@ -20230,8 +20231,8 @@ is_a: MONDO:0004382 {source="DOID:11527", source="MESH:D007829"} ! laryngeal dis [Term] id: MONDO:0001306 name: obsolete recurrent corneal erosion -synonym: "recurrent erosion of cornea" EXACT [DOID:11541, ICD9CM:371.42] -synonym: "recurrent erosion syndrome" EXACT [DOID:11541] +synonym: "recurrent erosion of cornea" EXACT [ICD9CM:371.42] +synonym: "recurrent erosion syndrome" EXACT [] xref: DOID:11541 {source="MONDO:obsoleteEquivalent"} xref: HP:0000495 {source="MONDO:otherHierarchy"} xref: ICD10CM:H18.83 {source="DOID:11541"} @@ -20291,10 +20292,10 @@ synonym: "cranial nerve palsy of oculomotor nerve" EXACT [MONDO:design_pattern] synonym: "III nerve palsy" EXACT [DOID:11550] synonym: "IIIrd nerve paralysis" EXACT [DOID:11550, NCIT:C27597] synonym: "oculomotor nerve cranial nerve palsy" EXACT [MONDO:patterns/location] -synonym: "oculomotor nerve paralysis" EXACT [] +synonym: "oculomotor nerve paralysis" EXACT [DOID:11550, NCIT:C27597] synonym: "oculomotor palsy" EXACT [MONDO:0020255] synonym: "third cranial nerve paralysis" EXACT [DOID:11550] -synonym: "third cranial nerve paralysis, NOS" RELATED EXCLUDE [DOID:11550] +synonym: "third cranial nerve paralysis, NOS" RELATED EXCLUDE [] xref: DOID:11550 {source="MONDO:equivalentTo"} xref: GARD:19544 {source="MONDO:GARD"} xref: ICD10CM:H49.0 {source="DOID:11550"} @@ -20369,8 +20370,8 @@ id: MONDO:0001314 name: chondrocalcinosis def: "An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "calcium pyrophosphate deposition disease" EXACT [DOID:1156] -synonym: "pseudogout" EXACT [DOID:1156] +synonym: "calcium pyrophosphate deposition disease" EXACT [DOID:1156, icd11.foundation:2041797033] +synonym: "pseudogout" EXACT [DOID:1156, NCIT:C34955] xref: DOID:1156 {source="MONDO:equivalentTo"} xref: HP:0000934 {source="DOID:1156", source="MONDO:otherHierarchy"} xref: icd11.foundation:2041797033 {source="MONDO:equivalentTo"} @@ -20504,7 +20505,7 @@ is_a: MONDO:0001269 ! scleral disorder [Term] id: MONDO:0001321 name: obsolete scleral staphyloma -synonym: "scleral ectasia" EXACT [DOID:11595, ICD9CM:379.11] +synonym: "scleral ectasia" EXACT [ICD9CM:379.11] synonym: "scleral staphyloma" EXACT [MONDO:ambiguous] synonym: "scleral staphyloma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:11595 {source="MONDO:obsoleteEquivalent"} @@ -20533,9 +20534,9 @@ synonym: "malignant tumor of pericardium" EXACT [DOID:116, NCIT:C4567] synonym: "malignant tumor of the pericardium" EXACT [NCIT:C4567] synonym: "malignant tumour of pericardium" EXACT OMO:0003005 [] synonym: "malignant tumour of the pericardium" EXACT OMO:0003005 [] -synonym: "pericardial tumor" BROAD [DOID:116, NCIT:C4651] +synonym: "pericardial tumor" BROAD [] synonym: "pericardial tumour" BROAD OMO:0003005 [] -synonym: "pericardium cancer" EXACT [MONDO:patterns/location] +synonym: "pericardium cancer" EXACT [DOID:116, MONDO:patterns/location] xref: DOID:116 {source="MONDO:equivalentTo"} xref: ICD10CM:C38.0 {source="DOID:116"} xref: MEDGEN:87561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -20577,7 +20578,7 @@ relationship: has_characteristic HP:0003593 ! Infantile onset id: MONDO:0001324 name: obsolete hyperandrogenism def: "OBSOLETE. A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction." [MESH:D017588] -synonym: "hyperandrogenization syndrome" EXACT [DOID:11613] +synonym: "hyperandrogenization syndrome" EXACT [] xref: DOID:11613 {source="MONDO:obsoleteEquivalent"} xref: MESH:D017588 {source="DOID:11613", source="MONDO:obsoleteEquivalent"} xref: NANDO:2200380 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -20606,13 +20607,13 @@ synonym: "malignant penile neoplasm" EXACT [NCIT:C7547] synonym: "malignant penile tumor" EXACT [DOID:11615, NCIT:C7547, Orphanet:398043] synonym: "malignant penile tumour" EXACT OMO:0003005 [] synonym: "malignant penis neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant tumor of penis" EXACT [MONDO:0018350, NCIT:C7547] +synonym: "malignant tumor of penis" EXACT [MONDO:0018350, NCIT:C7547, Orphanet:398043] synonym: "malignant tumor of the penis" EXACT [NCIT:C7547] synonym: "malignant tumour of penis" EXACT OMO:0003005 [] synonym: "malignant tumour of the penis" EXACT OMO:0003005 [] synonym: "penile Ca" EXACT [DOID:11615] -synonym: "penile cancer" EXACT [Orphanet:398043] -synonym: "penile neoplasm" BROAD [DOID:11615] +synonym: "penile cancer" EXACT [DOID:11615, Orphanet:398043] +synonym: "penile neoplasm" BROAD [] synonym: "penis cancer" EXACT [MONDO:patterns/location] xref: DOID:11615 {source="MONDO:equivalentTo"} xref: GARD:9366 {source="MONDO:GARD"} @@ -20646,7 +20647,7 @@ intersection_of: disease_has_location UBERON:0000989 ! penis id: MONDO:0001326 name: dental pulp necrosis def: "Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification." [MESH:D003790] -synonym: "necrosis of pulp" EXACT [] +synonym: "necrosis of pulp" EXACT [ICD10CM:K04.1] synonym: "necrosis of the pulp" EXACT [DOID:11623, ICD9CM:522.1] synonym: "necrotic pulp" EXACT [DOID:11623] synonym: "pulp necrosis" EXACT [DOID:11623] @@ -20680,12 +20681,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "generalised thyroid hormone resistance" EXACT OMO:0003005 [] synonym: "generalized thyroid hormone resistance" EXACT [DOID:11633] -synonym: "Refetoff syndrome" RELATED EXCLUDE [DOID:11633] +synonym: "Refetoff syndrome" RELATED EXCLUDE [] synonym: "resistance to thyroid stimulating hormone" RELATED [] synonym: "resistance to thyrotropin" RELATED [] synonym: "RTH" RELATED ABBREVIATION [doi:10.1210/jcem.84.2.5534] synonym: "thyroid hormone resistance" EXACT [DOID:11633] -synonym: "thyroid hormone resistance syndrome" EXACT [] +synonym: "thyroid hormone resistance syndrome" EXACT [DOID:11633] synonym: "thyroid hormone responsiveness defect" EXACT [DOID:11633] synonym: "TSH resistance" RELATED [] xref: DOID:11633 {source="MONDO:equivalentTo"} @@ -20833,10 +20834,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial hyperlipemia" RELATED [] -synonym: "familial hyperlipoproteinemia" RELATED [DOID:1168] +synonym: "familial hyperlipoproteinemia" RELATED [] synonym: "hereditary hyperlipidemia (disease)" EXACT [MONDO:patterns/hereditary] -synonym: "hyperlipemia" BROAD [DOID:1168] -synonym: "hyperlipidaemia" BROAD [DOID:1168] +synonym: "hyperlipemia" BROAD [] +synonym: "hyperlipidaemia" BROAD [] xref: DOID:1168 {source="MONDO:equivalentTo"} xref: ICD10CM:E78.5 {source="MONDO:relatedTo", source="DOID:1168"} xref: MEDGEN:675194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -20870,7 +20871,7 @@ is_a: MONDO:0008420 {source="DOID:11685", source="ICD10CM:L82.0"} ! seborrheic k [Term] id: MONDO:0001338 name: acute apical periodontitis -synonym: "acute apical periodontitis of pulpal origin" EXACT [DOID:11693, ICD9CM:522.4] +synonym: "acute apical periodontitis of pulpal origin" EXACT [DOID:11693, ICD10CM:K04.4, ICD9CM:522.4] xref: DOID:11693 {source="MONDO:equivalentTo"} xref: ICD10CM:K04.4 {source="MONDO:equivalentTo", source="DOID:11693"} xref: ICD9:522.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11693"} @@ -20912,9 +20913,9 @@ def: "A malignant neoplasm involving the heart" [https://orcid.org/0000-0002-660 subset: otar {source="MONDO:OTAR"} synonym: "cancer of heart" EXACT [MONDO:patterns/cancer] synonym: "Cardiac neoplasm, malignant" EXACT [NCIT:C3548] -synonym: "Cardiac tumor" BROAD [DOID:117, NCIT:C3081] +synonym: "Cardiac tumor" BROAD [] synonym: "Cardiac tumour" BROAD OMO:0003005 [] -synonym: "heart cancer" EXACT [MONDO:patterns/location, NCIT:C3548] +synonym: "heart cancer" EXACT [DOID:117, MONDO:patterns/location, NCIT:C3548] synonym: "malignant Cardiac neoplasm" EXACT [NCIT:C3548] synonym: "malignant Cardiac tumor" EXACT [DOID:117, NCIT:C3548] synonym: "malignant Cardiac tumour" EXACT OMO:0003005 [] @@ -20927,7 +20928,7 @@ synonym: "malignant tumor of heart" EXACT [NCIT:C3548] synonym: "malignant tumor of the heart" EXACT [NCIT:C3548] synonym: "malignant tumour of heart" EXACT OMO:0003005 [] synonym: "malignant tumour of the heart" EXACT OMO:0003005 [] -synonym: "tumor of heart" BROAD [DOID:117] +synonym: "tumor of heart" BROAD [] synonym: "tumour of heart" BROAD OMO:0003005 [] xref: DOID:117 {source="MONDO:equivalentTo"} xref: ICD10CM:C38.0 {source="DOID:117"} @@ -20963,11 +20964,11 @@ synonym: "deficiency, IgA" RELATED [MESH:D017098] synonym: "gamma-A-globulin deficiency" EXACT [DOID:0060025] synonym: "IgA deficiencies" RELATED [MESH:D017098] synonym: "IgA deficiency" EXACT [DOID:0060025] -synonym: "immunoglobulin A deficiency" EXACT [MONDO:0000048] -synonym: "immunoglobulin alpha deficiency" RELATED [DOID:0060025] +synonym: "immunoglobulin A deficiency" EXACT [DOID:11701, MONDO:0000048] +synonym: "immunoglobulin alpha deficiency" RELATED [] synonym: "selective IgA immunodeficiency" EXACT [DOID:11701, ICD9CM:279.01, NCIT:C26964] -synonym: "selective immunoglobulin A deficiency" EXACT [DOID:11701, Orphanet:69127] -synonym: "SIgAD" EXACT [Orphanet:69127] +synonym: "selective immunoglobulin A deficiency" EXACT [DOID:11701] +synonym: "SIgAD" EXACT [] xref: DOID:0060025 {source="MONDO:equivalentTo"} xref: DOID:11701 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:1001929 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -20990,9 +20991,9 @@ def: "An immunologic deficiency state characterized by selective deficiencies of subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dysgammaglobulinemia" EXACT [MONDO:ambiguous] +synonym: "dysgammaglobulinemia" EXACT [DOID:11702, MONDO:ambiguous] synonym: "dysgammaglobulinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "dysgammaglobulinemia (finding)" EXACT [DOID:11702] +synonym: "dysgammaglobulinemia (finding)" EXACT [] xref: DOID:11702 {source="MONDO:equivalentTo"} xref: HP:0002961 {source="MONDO:otherHierarchy"} xref: MEDGEN:41679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -21054,9 +21055,9 @@ subset: ordo_disorder {source="Orphanet:269"} subset: orphanet_rare {source="Orphanet:269"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "facioscapulohumeral dystrophy" EXACT [MONDO:0017099] -synonym: "facioscapulohumeral muscular dystrophy" EXACT [Orphanet:269] -synonym: "facioscapulohumeral myopathy" EXACT [Orphanet:269] +synonym: "facioscapulohumeral dystrophy" EXACT [MONDO:0017099, Orphanet:269] +synonym: "facioscapulohumeral muscular dystrophy" EXACT [DOID:11727, icd11.foundation:621965073, NCIT:C84704, OMIMPS:158900, Orphanet:269] +synonym: "facioscapulohumeral myopathy" EXACT [icd11.foundation:621965073, Orphanet:269] synonym: "FSH dystrophy" EXACT [Orphanet:269] synonym: "FSHD" EXACT ABBREVIATION [Orphanet:269] synonym: "Landouzy Dejerine muscular dystrophy" EXACT [DOID:11727] @@ -21168,7 +21169,7 @@ def: "Any disease caused by infection with by Bordetella parapertussis. The symp synonym: "Bordetella parapertussis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bordetella parapertussis disease or disorder" EXACT [] synonym: "Bordetella parapertussis infection" RELATED [] -synonym: "Bordetella parapertussis whooping cough" RELATED [DOID:11750] +synonym: "Bordetella parapertussis whooping cough" RELATED [] synonym: "infection caused by Bordetella parapertussis" RELATED [] synonym: "infection due to Bordetella parapertussis" EXACT [] xref: DOID:11750 {source="MONDO:equivalentTo"} @@ -21241,7 +21242,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "anaemia hypochromic" EXACT OMO:0003005 [] synonym: "anemia hypochromic" EXACT [DOID:11759, MTH:NOCODE] synonym: "hypochromic anaemia (disease)" EXACT OMO:0003005 [] -synonym: "hypochromic anemia" EXACT [MONDO:ambiguous, NCIT:C34380] +synonym: "hypochromic anemia" EXACT [DOID:11759, MONDO:ambiguous, NCIT:C34380] synonym: "hypochromic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:11759 {source="MONDO:equivalentTo"} xref: HP:0001931 {source="MONDO:otherHierarchy"} @@ -21262,7 +21263,7 @@ name: bronchial disorder def: "A disease involving the bronchus." [MONDO:patterns/location_top] subset: otar {source="MONDO:OTAR"} synonym: "bronchial disorder" EXACT [] -synonym: "bronchospasm" EXACT [DOID:1176, NCIT:C34439] +synonym: "bronchospasm" EXACT [NCIT:C34439] synonym: "bronchus disease" EXACT [MONDO:patterns/location] synonym: "bronchus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of bronchus" EXACT [MONDO:patterns/location_top] @@ -21305,7 +21306,7 @@ name: spontaneous ocular nystagmus def: "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)" [MESH:D009759] synonym: "ocular nystagmus" EXACT [DOID:11771] synonym: "searching eye movements" EXACT [DOID:11771] -synonym: "visual deprivation nystagmus" EXACT [DOID:11771, ICD9CM:379.53] +synonym: "visual deprivation nystagmus" EXACT [DOID:11771, ICD10CM:H55.03, ICD9CM:379.53] xref: DOID:11771 {source="MONDO:equivalentTo"} xref: ICD10CM:H55.03 {source="MONDO:equivalentTo", source="DOID:11771"} xref: ICD9:379.53 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11771"} @@ -21430,8 +21431,8 @@ id: MONDO:0001370 name: pericardial effusion def: "Fluid collection within the pericardial sac, usually due to inflammation." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "fluid, pericardial" EXACT [NCIT:C3319] -synonym: "pericardial effusion" EXACT [MONDO:ambiguous] +synonym: "fluid, pericardial" EXACT [] +synonym: "pericardial effusion" EXACT [DOID:118, icd11.foundation:2002014072, MONDO:ambiguous, NCIT:C3319] synonym: "pericardial effusion (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pericardial fluid" EXACT [NCIT:C3319] xref: DOID:118 {source="MONDO:equivalentTo"} @@ -21510,8 +21511,8 @@ def: "A malignant mesenchymal cell neoplasm that affects the urinary bladder." [ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bladder sarcoma" EXACT [NCIT:C4669] -synonym: "sarcoma of bladder" EXACT [NCIT:C4669] +synonym: "bladder sarcoma" EXACT [DOID:11812, NCIT:C4669] +synonym: "sarcoma of bladder" EXACT [DOID:11812, NCIT:C4669] synonym: "sarcoma of the bladder" EXACT [NCIT:C4669] synonym: "sarcoma of the urinary bladder" EXACT [DOID:11812, NCIT:C4669] synonym: "sarcoma of urinary bladder" EXACT [MONDO:patterns/sarcoma, NCIT:C4669] @@ -21584,7 +21585,7 @@ synonym: "malignant neoplasm of urachus" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of urachus" EXACT [DOID:11817] synonym: "malignant tumour of urachus" EXACT OMO:0003005 [] synonym: "malignant urachus neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "urachus cancer" EXACT [MONDO:patterns/location] +synonym: "urachus cancer" EXACT [DOID:11817, MONDO:patterns/location] xref: DOID:11817 {source="MONDO:equivalentTo"} xref: ICD10CM:C67.7 {source="DOID:11817"} xref: ICD9:188.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11817"} @@ -21606,7 +21607,7 @@ synonym: "malignant neoplasm of ureteric orifice of urinary bladder" EXACT [DOID synonym: "malignant tumor of ureteric orifice" EXACT [DOID:11818] synonym: "malignant tumour of ureteric orifice" EXACT OMO:0003005 [] synonym: "malignant ureteral orifice neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "orifice of the ureter" EXACT [DOID:11818, NCIT:C12337] +synonym: "orifice of the ureter" EXACT [DOID:11818] synonym: "ureteral orifice cancer" EXACT [MONDO:patterns/location] xref: DOID:11818 {source="MONDO:equivalentTo"} xref: ICD10CM:C67.6 {source="DOID:11818"} @@ -21632,7 +21633,7 @@ synonym: "malignant neoplasm of dome of urinary bladder" EXACT [DOID:11820, ICD9 synonym: "malignant neoplasm of fundus of urinary bladder" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of vault of bladder" EXACT [DOID:11820] synonym: "malignant tumour of vault of bladder" EXACT OMO:0003005 [] -synonym: "superior surface of bladder" EXACT [DOID:11820, NCIT:C12332] +synonym: "superior surface of bladder" EXACT [DOID:11820] xref: DOID:11820 {source="MONDO:equivalentTo"} xref: ICD10CM:C67.1 {source="DOID:11820"} xref: ICD9:188.1 {source="DOID:11820", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -21657,7 +21658,7 @@ synonym: "lymphoma of the bladder" EXACT [NCIT:C6164] synonym: "lymphoma of the urinary bladder" EXACT [DOID:11821, NCIT:C6164] synonym: "lymphoma of urinary bladder" EXACT [NCIT:C6164] synonym: "primary bladder lymphoma" EXACT [NCIT:C6164] -synonym: "urinary bladder lymphoma" EXACT [MONDO:patterns/location] +synonym: "urinary bladder lymphoma" EXACT [MONDO:patterns/location, NCIT:C6164] xref: DOID:11821 {source="MONDO:equivalentTo"} xref: MEDGEN:231948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6164 {source="DOID:11821", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -21716,10 +21717,10 @@ id: MONDO:0001384 name: myopia def: "The condition in which the individual does not see far distances clearly." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "myopia" EXACT [MONDO:ambiguous] +synonym: "myopia" EXACT [DOID:11830, ICD10CM:H52.1, icd11.foundation:1666440799, MONDO:ambiguous, OMIMPS:160700] synonym: "myopia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "near vision" EXACT [DOID:11830] -synonym: "near-sightedness" EXACT [DOID:11830] +synonym: "near-sightedness" EXACT [DOID:11830, icd11.foundation:1666440799] synonym: "short-sightedness" EXACT [DOID:11830] xref: DOID:11830 {source="MONDO:equivalentTo"} xref: HP:0000545 {source="MONDO:otherHierarchy"} @@ -21783,7 +21784,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "penile sarcoma" EXACT [NCIT:C7730] -synonym: "penis sarcoma" EXACT [MONDO:patterns/location] +synonym: "penis sarcoma" EXACT [DOID:11838, MONDO:patterns/location] synonym: "sarcoma of penis" EXACT [DOID:11838, MONDO:patterns/sarcoma, NCIT:C7730] synonym: "sarcoma of the penis" EXACT [NCIT:C7730] xref: DOID:11838 {source="MONDO:equivalentTo"} @@ -21803,11 +21804,11 @@ def: "A malignant neoplasm involving the glans penis." [https://orcid.org/0000-0 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cancer of glans penis" EXACT [MONDO:patterns/cancer] -synonym: "glans penis cancer" EXACT [MONDO:patterns/location] +synonym: "glans penis cancer" EXACT [DOID:11839, MONDO:patterns/location] synonym: "malignant glans penis neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of glans penis" EXACT [DOID:11839, ICD9CM:187.2, MONDO:patterns/cancer] synonym: "malignant tumor of glans penis" EXACT [DOID:11839] -synonym: "malignant tumour of glans penis" EXACT OMO:0003005 [] +synonym: "malignant tumour of glans penis" EXACT OMO:0003005 [DOID:11839] xref: DOID:11839 {source="MONDO:equivalentTo"} xref: ICD10CM:C60.1 {source="DOID:11839"} xref: ICD9:187.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11839"} @@ -21827,7 +21828,7 @@ subset: obsoletion_candidate synonym: "congenital anomaly of coronary artery" EXACT [DOID:11843] synonym: "coronary arteries congenital malformation" EXACT [MONDO:0022869] synonym: "coronary artery abnormality" EXACT [DOID:11843] -synonym: "coronary artery abnormality [ambiguous]" EXACT [DOID:11843] +synonym: "coronary artery abnormality [ambiguous]" EXACT [] synonym: "coronary artery anomaly" EXACT [DOID:11843] synonym: "coronary artery anomaly, congenital" EXACT [DOID:11843, ICD9CM:746.85] xref: DOID:11843 {source="MONDO:equivalentTo"} @@ -21865,7 +21866,7 @@ name: indeterminate leprosy def: "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules." [DOID:11851, http://emedicine.medscape.com/article/1104977-clinical#a0217] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "indeterminate leprosy [group I]" EXACT [DOID:11851, ICD9CM:030.2] +synonym: "indeterminate leprosy [group I]" EXACT [ICD9CM:030.2] synonym: "uncharacteristic leprosy" EXACT [DOID:11851] xref: DOID:11851 {source="MONDO:equivalentTo"} xref: ICD10CM:A30.0 {source="MONDO:equivalentTo", source="DOID:11851"} @@ -21936,7 +21937,7 @@ is_a: MONDO:0003085 {source="DOID:11871"} ! keratitis [Term] id: MONDO:0001396 name: abnormal threshold of rods -synonym: "abnormal dark adaptation curve" EXACT [DOID:11874, ICD9CM:368.63] +synonym: "abnormal dark adaptation curve" EXACT [DOID:11874, ICD10CM:H53.61, ICD9CM:368.63] xref: DOID:11874 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.61 {source="DOID:11874", source="MONDO:equivalentTo"} xref: ICD9:368.63 {source="DOID:11874", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -21982,11 +21983,11 @@ synonym: "benign ureteral neoplasm" EXACT [NCIT:C3617] synonym: "benign ureteral tumor" EXACT [NCIT:C3617] synonym: "benign ureteral tumour" EXACT OMO:0003005 [] synonym: "benign ureteric neoplasm" EXACT [NCIT:C3617] -synonym: "benign ureteric neoplasm NOS" RELATED EXCLUDE [NCIT:C3617] -synonym: "neoplasm of ureter" RELATED EXCLUDE [DOID:11885] +synonym: "benign ureteric neoplasm NOS" RELATED EXCLUDE [] +synonym: "neoplasm of ureter" RELATED EXCLUDE [] synonym: "ureter benign neoplasm" EXACT [MONDO:patterns/location] -synonym: "ureteral benign neoplasm" RELATED [DOID:11885] -synonym: "ureteral tumor" BROAD [DOID:11885, NCIT:C3427] +synonym: "ureteral benign neoplasm" RELATED [] +synonym: "ureteral tumor" BROAD [] synonym: "ureteral tumour" BROAD OMO:0003005 [] xref: DOID:11885 {source="MONDO:equivalentTo"} xref: ICD9:223.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -22007,7 +22008,7 @@ name: ureter leiomyoma def: "A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6161] synonym: "leiomyoma of the ureter" EXACT [NCIT:C6161] synonym: "leiomyoma of ureter" EXACT [NCIT:C6161] -synonym: "ureter leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6161] +synonym: "ureter leiomyoma" EXACT [DOID:11887, MONDO:patterns/location, NCIT:C6161] synonym: "ureteral leiomyoma" EXACT [DOID:11887, NCIT:C6161] xref: DOID:11887 {source="MONDO:equivalentTo"} xref: MEDGEN:234457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -22028,7 +22029,7 @@ synonym: "neurilemmoma of the ureter" EXACT [NCIT:C6162] synonym: "neurilemmoma of ureter" EXACT [NCIT:C6162] synonym: "schwannoma of the ureter" EXACT [NCIT:C6162] synonym: "ureter neurilemmoma" EXACT [NCIT:C6162] -synonym: "ureter schwannoma" EXACT [MONDO:patterns/location] +synonym: "ureter schwannoma" EXACT [MONDO:patterns/location, NCIT:C6162] synonym: "ureteral neurilemmoma" EXACT [NCIT:C6162] synonym: "ureteral schwannoma" EXACT [DOID:11888, NCIT:C6162] xref: DOID:11888 {source="MONDO:equivalentTo"} @@ -22062,7 +22063,7 @@ synonym: "cancer of vagina" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the vagina" EXACT [NCIT:C7410] synonym: "malignant neoplasm of vagina" EXACT [DOID:119, ICD9CM:184.0, MONDO:patterns/cancer, NCIT:C7410] synonym: "malignant tumor of the vagina" EXACT [NCIT:C7410] -synonym: "malignant tumor of vagina" EXACT [NCIT:C7410] +synonym: "malignant tumor of vagina" EXACT [DOID:119, NCIT:C7410] synonym: "malignant tumour of the vagina" EXACT OMO:0003005 [] synonym: "malignant tumour of vagina" EXACT OMO:0003005 [] synonym: "malignant vagina neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7410] @@ -22071,10 +22072,10 @@ synonym: "malignant vagina tumour" EXACT OMO:0003005 [] synonym: "malignant vaginal neoplasm" EXACT [NCIT:C7410] synonym: "malignant vaginal tumor" EXACT [DOID:119, NCIT:C7410] synonym: "malignant vaginal tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of vagina" RELATED EXCLUDE [DOID:119] +synonym: "neoplasm of vagina" RELATED EXCLUDE [] synonym: "vagina cancer" EXACT [MONDO:patterns/location] -synonym: "vagina neoplasm" BROAD [DOID:119] -synonym: "vaginal tumor" BROAD [DOID:119, NCIT:C3437] +synonym: "vagina neoplasm" BROAD [] +synonym: "vaginal tumor" BROAD [] synonym: "vaginal tumour" BROAD OMO:0003005 [] xref: DOID:119 {source="MONDO:equivalentTo"} xref: ICD10CM:C52 {source="DOID:119"} @@ -22145,7 +22146,7 @@ def: "Dermatophytosis involving the stratum corneum of the skin of the groin and synonym: "dermatophytosis of groin & perianal area" EXACT [DOID:11917] synonym: "dermatophytosis of groin and perianal area" EXACT [DOID:11917, NCIT:C34535] synonym: "Dhobie itch" EXACT [DOID:11917] -synonym: "tinea cruris" RELATED [DOID:11917] +synonym: "tinea cruris" RELATED [] xref: DOID:11917 {source="MONDO:equivalentTo"} xref: ICD9:110.3 {source="DOID:11917"} xref: MEDGEN:3769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -22163,9 +22164,9 @@ id: MONDO:0001406 name: peripheral nervous system neoplasm def: "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths." [NCIT:C3321] subset: otar {source="MONDO:OTAR"} -synonym: "CNS-excluded nervous sys. cancer" NARROW [NCIT:C3321] -synonym: "CNS-excluded nervous system cancer, NOS" RELATED EXCLUDE [NCIT:C3321] -synonym: "neoplasm of peripheral nerve" EXACT [NCIT:C3321] +synonym: "CNS-excluded nervous sys. cancer" NARROW [] +synonym: "CNS-excluded nervous system cancer, NOS" RELATED EXCLUDE [] +synonym: "neoplasm of peripheral nerve" EXACT [DOID:1192, NCIT:C3321] synonym: "neoplasm of peripheral nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3321] synonym: "neoplasm of PNS" EXACT [NCIT:C3321] synonym: "neoplasm of the peripheral nerve" EXACT [NCIT:C3321] @@ -22173,13 +22174,13 @@ synonym: "neoplasm of the peripheral nervous system" EXACT [NCIT:C3321] synonym: "neoplasm of the PNS" EXACT [NCIT:C3321] synonym: "neoplasms, peripheral nervous system" EXACT [NCIT:C3321] synonym: "neoplasms, PNS" EXACT [NCIT:C3321] -synonym: "nerve sheath neoplasm" NARROW [DOID:1192] -synonym: "nerve sheath tumors" NARROW [DOID:1192] +synonym: "nerve sheath neoplasm" NARROW [] +synonym: "nerve sheath tumors" NARROW [] synonym: "nerve sheath tumours" NARROW OMO:0003005 [] synonym: "peripheral nerve neoplasm" EXACT [NCIT:C3321] synonym: "peripheral nerve tumor" EXACT [NCIT:C3321] synonym: "peripheral nerve tumour" EXACT OMO:0003005 [] -synonym: "peripheral nervous system neoplasm" EXACT [NCIT:C3321] +synonym: "peripheral nervous system neoplasm" EXACT [DOID:1192, NCIT:C3321] synonym: "peripheral nervous system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "peripheral nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3321] synonym: "peripheral nervous system tumour" EXACT OMO:0003005 [] @@ -22226,22 +22227,22 @@ id: MONDO:0001407 name: tracheal cancer def: "A malignant neoplasm involving the trachea" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "Ca trachea" EXACT [DOID:11920] +synonym: "Ca trachea" EXACT [] synonym: "cancer of trachea" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the trachea" EXACT [NCIT:C9346] -synonym: "malignant neoplasm of trachea" EXACT [DOID:11920, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C9346] +synonym: "malignant neoplasm of trachea" EXACT [ICD10CM:C33, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C9346] synonym: "malignant trachea neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9346] synonym: "malignant trachea tumor" EXACT [NCIT:C9346] synonym: "malignant trachea tumour" EXACT OMO:0003005 [] synonym: "malignant tracheal neoplasm" EXACT [NCIT:C9346] -synonym: "malignant tracheal tumor" EXACT [DOID:11920, NCIT:C9346] +synonym: "malignant tracheal tumor" EXACT [NCIT:C9346] synonym: "malignant tracheal tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the trachea" EXACT [NCIT:C9346] synonym: "malignant tumor of trachea" EXACT [NCIT:C9346] synonym: "malignant tumour of the trachea" EXACT OMO:0003005 [] synonym: "malignant tumour of trachea" EXACT OMO:0003005 [] synonym: "trachea cancer" EXACT [MONDO:patterns/location] -synonym: "tracheal neoplasm" BROAD [DOID:11920] +synonym: "tracheal neoplasm" BROAD [] xref: DOID:11920 {source="MONDO:equivalentTo"} xref: ICD10CM:C33 {source="DOID:11920", source="MONDO:equivalentTo"} xref: ICD9:162.0 {source="DOID:11920", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -22279,8 +22280,8 @@ id: MONDO:0001409 name: esophagitis def: "An acute or chronic inflammatory disease affecting the esophageal wall." [https://orcid.org/0000-0002-6601-2165, NCIT:C9224] subset: otar {source="MONDO:OTAR"} -synonym: "acute esophagitis" NARROW [DOID:11963] -synonym: "esophagitis" EXACT [MONDO:ambiguous] +synonym: "acute esophagitis" NARROW [] +synonym: "esophagitis" EXACT [DOID:11963, MONDO:ambiguous, NCIT:C9224] synonym: "esophagitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "esophagus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of esophagus" EXACT [] @@ -22311,8 +22312,8 @@ id: MONDO:0001410 name: postmenopausal atrophic vaginitis def: "Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause." [MESH:D059268] subset: otar {source="MONDO:OTAR"} -synonym: "atrophic vaginitis" EXACT [DOID:11968] -synonym: "senile vaginitis" EXACT [DOID:11968] +synonym: "atrophic vaginitis" EXACT [DOID:11968, icd11.foundation:1876048433] +synonym: "senile vaginitis" EXACT [DOID:11968, icd11.foundation:1876048433] xref: DOID:11968 {source="MONDO:equivalentTo"} xref: ICD10CM:N95.2 {source="MONDO:equivalentTo", source="DOID:11968"} xref: icd11.foundation:1876048433 {source="MONDO:equivalentTo"} @@ -22369,7 +22370,7 @@ name: osteopoikilosis def: "A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "osteopathia condensans disseminata" RELATED [GARD:0004158] -synonym: "osteopoikilosis" EXACT [MONDO:ambiguous] +synonym: "osteopoikilosis" EXACT [DOID:11991, icd11.foundation:801926378, MONDO:ambiguous, NCIT:C84985] synonym: "osteopoikilosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "spotted bones" RELATED [GARD:0004158] xref: DOID:11991 {source="MONDO:equivalentTo"} @@ -22391,7 +22392,7 @@ property_value: IAO:0000589 "osteopoikilosis (disease)" xsd:string id: MONDO:0001415 name: atrophy of testis def: "Loss of testicular volume." [NCIT:P378] -synonym: "testicular atrophy" EXACT [NCIT:C123259] +synonym: "testicular atrophy" EXACT [icd11.foundation:1735709719, NCIT:C123259] xref: DOID:11994 {source="MONDO:equivalentTo"} xref: ICD10CM:N50.0 {source="MONDO:equivalentTo", source="DOID:11994"} xref: icd11.foundation:1735709719 {source="MONDO:equivalentTo"} @@ -22410,10 +22411,10 @@ name: female reproductive organ cancer def: "A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma." [NCIT:C4913] subset: otar {source="MONDO:OTAR"} synonym: "cancer of female reproductive organ" EXACT [MONDO:patterns/cancer] -synonym: "female reprod. system cancer, NOS" RELATED EXCLUDE [NCIT:C4913] +synonym: "female reprod. system cancer, NOS" RELATED EXCLUDE [] synonym: "female reproductive cancer" EXACT [DOID:120, NCIT:C4913] -synonym: "female reproductive organ cancer" EXACT [MONDO:patterns/location] -synonym: "female reproductive system cancer, NOS" RELATED EXCLUDE [NCIT:C4913] +synonym: "female reproductive organ cancer" EXACT [DOID:120, MONDO:patterns/location] +synonym: "female reproductive system cancer, NOS" RELATED EXCLUDE [] synonym: "gynecologic cancer" EXACT [NCIT:C4913] synonym: "malignant female reproductive organ neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant female reproductive system neoplasm" EXACT [NCIT:C4913] @@ -22458,7 +22459,7 @@ synonym: "lymphoma of the trachea" EXACT [DOID:12001, NCIT:C6248] synonym: "lymphoma of trachea" EXACT [DOID:12001, NCIT:C6248] synonym: "primary tracheal lymphoma" EXACT [NCIT:C6248] synonym: "trachea lymphoma" EXACT [MONDO:patterns/location] -synonym: "tracheal lymphoma" EXACT [NCIT:C6248] +synonym: "tracheal lymphoma" EXACT [DOID:12001, NCIT:C6248] xref: DOID:12001 {source="MONDO:equivalentTo"} xref: MEDGEN:277825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6248 {source="MONDO:equivalentTo", source="DOID:12001", source="MONDO:exact-label-match"} @@ -22477,7 +22478,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "sarcoma of the trachea" EXACT [DOID:12002, NCIT:C6050] synonym: "sarcoma of trachea" EXACT [MONDO:patterns/sarcoma, NCIT:C6050] -synonym: "trachea sarcoma" EXACT [MONDO:patterns/location, NCIT:C6050] +synonym: "trachea sarcoma" EXACT [DOID:12002, MONDO:patterns/location, NCIT:C6050] synonym: "tracheal sarcoma" EXACT [NCIT:C6050] xref: DOID:12002 {source="MONDO:equivalentTo"} xref: MEDGEN:237016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -22497,9 +22498,9 @@ subset: otar {source="MONDO:OTAR"} synonym: "epidermoid carcinoma of the trachea" EXACT [NCIT:C4448] synonym: "epidermoid carcinoma of trachea" EXACT [NCIT:C4448] synonym: "squamous cell carcinoma of the trachea" EXACT [NCIT:C4448] -synonym: "squamous cell carcinoma of trachea" EXACT [DOID:12003, NCIT:C4448] +synonym: "squamous cell carcinoma of trachea" EXACT [NCIT:C4448] synonym: "trachea epidermoid carcinoma" EXACT [NCIT:C4448] -synonym: "trachea squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4448] +synonym: "trachea squamous cell carcinoma" EXACT [DOID:12003, MONDO:patterns/location, NCIT:C4448] synonym: "tracheal epidermoid carcinoma" EXACT [DOID:12003, NCIT:C4448] synonym: "tracheal squamous cell carcinoma" EXACT [NCIT:C4448] xref: DOID:12003 {source="MONDO:equivalentTo"} @@ -22526,9 +22527,9 @@ synonym: "fifth cranial nerve tumour" EXACT OMO:0003005 [] synonym: "neoplasm of fifth cranial nerve" EXACT [NCIT:C5122] synonym: "neoplasm of the fifth cranial nerve" EXACT [NCIT:C5122] synonym: "neoplasm of the trigeminal nerve" EXACT [NCIT:C5122] -synonym: "neoplasm of trigeminal nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5122] +synonym: "neoplasm of trigeminal nerve" EXACT [DOID:1201, MONDO:patterns/neoplasm, NCIT:C5122] synonym: "neoplasms, cranial nerve V" EXACT [NCIT:C5122] -synonym: "trigeminal nerve neoplasm" EXACT [NCIT:C5122] +synonym: "trigeminal nerve neoplasm" EXACT [DOID:1201, NCIT:C5122] synonym: "trigeminal nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "trigeminal nerve neoplasms" EXACT [NCIT:C5122] synonym: "trigeminal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5122] @@ -22560,10 +22561,10 @@ id: MONDO:0001421 name: frontal lobe neoplasm def: "A neoplasm involving a frontal lobe." [MONDO:patterns/neoplasm] synonym: "frontal lobe neoplasm (disease)" EXACT [MONDO:patterns/location] -synonym: "frontal lobe tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "frontal lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5572] synonym: "frontal lobe tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of frontal lobe" NARROW [DOID:12016] -synonym: "neoplasm of frontal lobe" EXACT [MONDO:patterns/neoplasm] +synonym: "malignant neoplasm of frontal lobe" NARROW [] +synonym: "neoplasm of frontal lobe" EXACT [DOID:12016, MONDO:patterns/neoplasm, NCIT:C5572] synonym: "neoplasm of the frontal lobe" EXACT [NCIT:C5572] synonym: "tumor of frontal lobe" EXACT [DOID:12016, MONDO:patterns/neoplasm, NCIT:C5572] synonym: "tumor of the frontal lobe" EXACT [NCIT:C5572] @@ -22590,9 +22591,9 @@ def: "An endocrine disorder characterized by excessive production of aldosterone comment: Editor note: DOID class refers to adenoma-caused Conn syndrome subset: otar {source="MONDO:OTAR"} synonym: "Conn syndrome" EXACT [DOID:12028, NCIT:C34510] -synonym: "Conn's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C34510] +synonym: "Conn's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:12028, MONDO:LexicalVariant, NCIT:C34510] synonym: "primary aldosteronism" EXACT [DOID:12028, ICD9CM:255.10, Wikipedia:Primary_aldosteronism] -synonym: "primary hyperaldosteronism" EXACT [DOID:12028, NCIT:C34510] +synonym: "primary hyperaldosteronism" EXACT [ICD10CM:E26.0, NCIT:C34510] xref: DOID:12028 {source="MONDO:equivalentTo"} xref: ICD10CM:E26.0 {source="DOID:12028", source="MONDO:equivalentTo"} xref: ICD10CM:E26.01 {source="DOID:12028"} @@ -22635,7 +22636,7 @@ id: MONDO:0001424 name: obsolete sarcoid meningitis def: "OBSOLETE. Meningitis that arises from sarcoidosis." [Wikipedia:Neurosarcoidosis] comment: Represents a finding not a disease. -synonym: "meningitis in sarcoidosis" EXACT [DOID:12055, ICD9CM:321.4] +synonym: "meningitis in sarcoidosis" EXACT [ICD9CM:321.4] xref: DOID:12055 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:D86.81 {source="MONDO:obsoleteEquivalent", source="DOID:12055"} xref: ICD9:321.4 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:12055"} @@ -22658,7 +22659,7 @@ def: "A neurofibroma that arises from the posterior mediastinum. Excision is usu subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "mediastinal neurofibroma" EXACT [NCIT:C6631] -synonym: "mediastinum neurofibroma" EXACT [MONDO:patterns/location] +synonym: "mediastinum neurofibroma" EXACT [DOID:12064, MONDO:patterns/location] synonym: "neurofibroma of mediastinum" EXACT [DOID:12064, NCIT:C6631] synonym: "neurofibroma of the mediastinum" EXACT [NCIT:C6631] xref: DOID:12064 {source="MONDO:equivalentTo"} @@ -22676,7 +22677,7 @@ name: Dieulafoy lesion def: "Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly." [https://rarediseases.info.nih.gov/diseases/10930/dieulafoy-lesion] synonym: "Dieulafoy disease" RELATED [GARD:0010930] synonym: "Dieulafoy lesion (hemorrhagic) of intestine" EXACT [DOID:12070] -synonym: "Dieulafoy lesion (hemorrhagic) of stomach and duodenum" EXACT [DOID:12070] +synonym: "Dieulafoy lesion (hemorrhagic) of stomach and duodenum" EXACT [DOID:12070, ICD10CM:K31.82] synonym: "Dieulafoy's lesion" RELATED [GARD:0010930] synonym: "Exulceratio simplex Dieulafoy" RELATED [GARD:0010930] xref: DOID:12070 {source="MONDO:equivalentTo"} @@ -22702,13 +22703,13 @@ is_a: MONDO:0004298 {source="DOID:12072"} ! stomach disorder id: MONDO:0001429 name: transient arthropathy def: "Arthropathy that is not permanent." [NCIT:C35761] -synonym: "transient arthropathy involving forearm" NARROW [DOID:12084] -synonym: "transient arthropathy involving hand" NARROW [DOID:12084] -synonym: "transient arthropathy involving lower leg" NARROW [DOID:12084] -synonym: "transient arthropathy involving multiple sites" NARROW [DOID:12084] -synonym: "transient arthropathy involving pelvic region and thigh" NARROW [DOID:12084] -synonym: "transient arthropathy involving shoulder region" NARROW [DOID:12084] -synonym: "transient arthropathy involving upper arm" NARROW [DOID:12084] +synonym: "transient arthropathy involving forearm" NARROW [] +synonym: "transient arthropathy involving hand" NARROW [] +synonym: "transient arthropathy involving lower leg" NARROW [] +synonym: "transient arthropathy involving multiple sites" NARROW [] +synonym: "transient arthropathy involving pelvic region and thigh" NARROW [] +synonym: "transient arthropathy involving shoulder region" NARROW [] +synonym: "transient arthropathy involving upper arm" NARROW [] xref: DOID:12084 {source="MONDO:equivalentTo"} xref: icd11.foundation:404860910 {source="MONDO:equivalentTo"} xref: ICD9:716.40 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -22738,7 +22739,7 @@ is_a: MONDO:0006713 {source="DOID:12087"} ! corneal neovascularization id: MONDO:0001431 name: toxic or nutritional optic neuropathy def: "A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Toxic_and_nutritional_optic_neuropathy] -synonym: "nutritional optic neuropathy" BROAD [DOID:1209] +synonym: "nutritional optic neuropathy" BROAD [] xref: DOID:1209 {source="MONDO:equivalentTo"} xref: ICD10CM:H46.2 {source="MONDO:equivalentTo", source="DOID:1209"} xref: ICD9:377.33 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1209"} @@ -22763,7 +22764,7 @@ synonym: "disease or disorder of vagina" EXACT [] synonym: "disorder of vagina" EXACT [MONDO:patterns/location_top] synonym: "vagina disease" EXACT [MONDO:patterns/location] synonym: "vagina disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "vaginal disease" EXACT [NCIT:C26910] +synonym: "vaginal disease" EXACT [DOID:121, NCIT:C26910] synonym: "vaginal disorder" EXACT [NCIT:C26910] xref: DOID:121 {source="MONDO:equivalentTo"} xref: MEDGEN:12042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -22783,9 +22784,9 @@ intersection_of: disease_has_location UBERON:0000996 ! vagina id: MONDO:0001434 name: inflammatory spondylopathy subset: otar {source="MONDO:OTAR"} -synonym: "inflammatory spondylopathies in disease classified elsewhere" NARROW [DOID:12105, ICD9CM:720.81] +synonym: "inflammatory spondylopathies in disease classified elsewhere" NARROW [ICD9CM:720.81] synonym: "inflammatory spondylopathies in disease EC" EXACT [DOID:12105] -synonym: "inflammatory spondylopathy in disease classified elsewhere" NARROW [DOID:12105] +synonym: "inflammatory spondylopathy in disease classified elsewhere" NARROW [] xref: DOID:12105 {source="MONDO:equivalentTo"} xref: ICD9:720.81 {source="DOID:12105"} xref: ICD9:720.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -22831,7 +22832,7 @@ name: pulmonary alveolar proteinosis def: "A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever." [NCIT:C85037] subset: otar {source="MONDO:OTAR"} synonym: "PAP" BROAD ABBREVIATION [https://orcid.org/0000-0002-6601-2165] -synonym: "pulmonary alveolar proteinosis" EXACT [NCIT:C85037] +synonym: "pulmonary alveolar proteinosis" EXACT [DOID:12120, icd11.foundation:1869739196, NCIT:C85037] xref: DOID:12120 {source="MONDO:equivalentTo"} xref: ICD10CM:J84.01 {source="DOID:12120"} xref: icd11.foundation:1869739196 {source="MONDO:equivalentTo"} @@ -22915,7 +22916,7 @@ id: MONDO:0001442 name: dysthymic disorder def: "A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "dysthymia" EXACT [DOID:12139] +synonym: "dysthymia" EXACT [DOID:12139, ICD10CM:F34.1, icd11.foundation:810797047] xref: DOID:12139 {source="MONDO:equivalentTo"} xref: EFO:0008623 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F34.1 {source="DOID:12139", source="MONDO:equivalentTo"} @@ -22956,8 +22957,8 @@ subset: orphanet_rare {source="Orphanet:3386"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "American trypanosomiasis" RELATED [DOID:12140] -synonym: "Chagas disease" EXACT [Orphanet:3386] -synonym: "Chagas' disease" EXACT [DOID:12140] +synonym: "Chagas disease" EXACT [DOID:12140, icd11.foundation:1365585570, NCIT:C84629, Orphanet:3386] +synonym: "Chagas' disease" EXACT [DOID:12140, ICD10CM:B57] synonym: "Chagas' disease with digestive system involvement" EXACT [DOID:12140] synonym: "Chagas' disease with nervous system involvement" EXACT [DOID:12140] synonym: "Chagas' disease with other organ involvement" EXACT [DOID:12140] @@ -23002,9 +23003,9 @@ id: MONDO:0001445 name: obsolete neurogenic bladder def: "OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy)." [NCIT:P378] synonym: "neurogenic bladder" EXACT [MONDO:ambiguous] -synonym: "neurogenic dysfunction of the urinary bladder" EXACT [DOID:12143] -synonym: "neurogenic urinary bladder disorder" EXACT [DOID:12143] -synonym: "neuropathic bladder" EXACT [DOID:12143] +synonym: "neurogenic dysfunction of the urinary bladder" EXACT [] +synonym: "neurogenic urinary bladder disorder" EXACT [] +synonym: "neuropathic bladder" EXACT [] synonym: "obsolete neurogenic bladder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12143 {source="MONDO:obsoleteEquivalent"} xref: HP:0000011 {source="MONDO:otherHierarchy"} @@ -23039,7 +23040,7 @@ is_a: MONDO:0006026 {source="DOID:12144"} ! urinary bladder disorder [Term] id: MONDO:0001447 name: detrusor sphincter dyssynergia -synonym: "detrusor sphincter dyssynergia" EXACT [MONDO:ambiguous] +synonym: "detrusor sphincter dyssynergia" EXACT [DOID:12145, MONDO:ambiguous] synonym: "detrusor sphincter dyssynergia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12145 {source="MONDO:equivalentTo"} xref: HP:0025488 {source="MONDO:otherHierarchy"} @@ -23067,8 +23068,8 @@ synonym: "LCM" EXACT ABBREVIATION [DOID:12155] synonym: "lymphocytic choriomeningitis mammarenavirus caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "lymphocytic choriomeningitis mammarenavirus infectious meningitis" EXACT [] synonym: "lymphocytic choriomeningitis virus encephalomyelitis" EXACT [DOID:12155] -synonym: "lymphocytic meningitis" BROAD [DOID:12155] -synonym: "lymphocytic meningoencephalitis" EXACT [DOID:12155] +synonym: "lymphocytic meningitis" BROAD [] +synonym: "lymphocytic meningoencephalitis" EXACT [DOID:12155, ICD10CM:A87.2] xref: DOID:12155 {source="MONDO:equivalentTo"} xref: ICD10CM:A87.2 {source="MONDO:equivalentTo", source="DOID:12155"} xref: icd11.foundation:307264938 {source="MONDO:equivalentTo"} @@ -23100,8 +23101,8 @@ replaced_by: MONDO:0015304 id: MONDO:0001451 name: peripheral retinal degeneration def: "Degeneration of the peripheral retina." [NCIT:C34919] -synonym: "peripheral degeneration of retina" EXACT [DOID:12161] -synonym: "peripheral retinal Degeneration" EXACT [NCIT:C34919] +synonym: "peripheral degeneration of retina" EXACT [DOID:12161, icd11.foundation:1518234440] +synonym: "peripheral retinal Degeneration" EXACT [DOID:12161, ICD10CM:H35.4, icd11.foundation:1518234440, NCIT:C34919] xref: DOID:12161 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.4 {source="MONDO:equivalentTo", source="DOID:12161"} xref: ICD10CM:H35.40 {source="DOID:12161"} @@ -23278,7 +23279,7 @@ name: descending colon cancer def: "A malignant neoplasm involving the descending colon." [https://orcid.org/0000-0002-6601-2165] synonym: "Ca descending colon" EXACT [DOID:12190] synonym: "cancer of descending colon" EXACT [MONDO:patterns/cancer] -synonym: "descending colon cancer" EXACT [MONDO:patterns/location] +synonym: "descending colon cancer" EXACT [DOID:12190, MONDO:patterns/location] synonym: "malignant descending colon neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of descending colon" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of left colon" EXACT [DOID:12190] @@ -23332,7 +23333,7 @@ synonym: "malignant neoplasm of sigmoid colon" EXACT [MONDO:patterns/cancer] synonym: "malignant sigmoid colon neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of sigmoid colon" EXACT [DOID:12192] synonym: "malignant tumour of sigmoid colon" EXACT OMO:0003005 [] -synonym: "sigmoid colon cancer" EXACT [MONDO:patterns/location] +synonym: "sigmoid colon cancer" EXACT [DOID:12192, MONDO:patterns/location] xref: DOID:12192 {source="MONDO:equivalentTo"} xref: ICD10CM:C18.7 {source="DOID:12192"} xref: ICD9:153.3 {source="DOID:12192", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -23380,7 +23381,7 @@ is_a: MONDO:0004768 {source="DOID:12197"} ! keratoconjunctivitis [Term] id: MONDO:0001467 name: obsolete specific bursitis often of occupational origin -synonym: "specific bursitides often of occupational origin" EXACT [DOID:12223, ICD9CM:727.2] +synonym: "specific bursitides often of occupational origin" EXACT [ICD9CM:727.2] xref: DOID:12223 {source="MONDO:obsoleteEquivalent"} xref: ICD9:727.2 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:12223"} xref: SCTID:42812006 {source="MONDO:obsoleteEquivalent", source="DOID:12223"} @@ -23389,7 +23390,7 @@ is_obsolete: true [Term] id: MONDO:0001468 name: synovial plica syndrome -synonym: "plica syndrome" EXACT [] +synonym: "plica syndrome" EXACT [DOID:12225] synonym: "synovial plica of knee" EXACT [] xref: DOID:12225 {source="MONDO:equivalentTo"} xref: ICD10CM:M67.5 {source="DOID:12225"} @@ -23420,9 +23421,9 @@ name: anal margin squamous cell carcinoma def: "A squamous cell carcinoma arising from the perianal skin." [NCIT:C6925] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "anal margin squamous cell carcinoma" EXACT [NCIT:C6925] +synonym: "anal margin squamous cell carcinoma" EXACT [DOID:12239, NCIT:C6925] synonym: "perianal skin squamous cell carcinoma" EXACT [DOID:12239, MONDO:patterns/location, NCIT:C6925] -synonym: "squamous cell carcinoma of anal margin" EXACT [DOID:12239, NCIT:C6925] +synonym: "squamous cell carcinoma of anal margin" EXACT [NCIT:C6925] synonym: "squamous cell carcinoma of the anal margin" EXACT [NCIT:C6925] xref: DOID:12239 {source="MONDO:equivalentTo"} xref: ICD10CM:C44.520 {source="DOID:12239"} @@ -23462,7 +23463,7 @@ def: "A lymphoma that arises from the testis and is not associated with lymphoma subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "lymphoma of testis" EXACT [NCIT:C6810] -synonym: "lymphoma of the testis" EXACT [DOID:12253] +synonym: "lymphoma of the testis" EXACT [DOID:12253, NCIT:C6810] synonym: "malignant lymphoma of testis" EXACT [DOID:12253] synonym: "primary testicular lymphoma" EXACT [NCIT:C6810] synonym: "testicular lymphoma" EXACT [DOID:12253, NCIT:C6810] @@ -23520,7 +23521,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neutropenia" EXACT CLINGEN_LABEL [] +synonym: "neutropenia" EXACT CLINGEN_LABEL [DOID:1227] synonym: "neutropenic disorder" EXACT [] xref: DOID:1227 {source="MONDO:equivalentTo"} xref: HP:0001875 {source="MONDO:otherHierarchy"} @@ -23545,10 +23546,10 @@ def: "An abnormality in which a part of a structure in one or both eyes is missi subset: disease_grouping subset: otar {source="MONDO:OTAR"} synonym: "coloboma of eye" EXACT [DOID:12270] -synonym: "coloboma of macula" NARROW [DOID:12270] +synonym: "coloboma of macula" NARROW [] synonym: "coloboma of the eye" EXACT [NCIT:C98877] -synonym: "congenital ocular coloboma" NARROW [DOID:12270] -synonym: "ocular coloboma" EXACT [Orphanet:194] +synonym: "congenital ocular coloboma" NARROW [] +synonym: "ocular coloboma" EXACT [] xref: DOID:12270 {source="MONDO:equivalentTo"} xref: ICD10CM:Q13.0 {source="DOID:12270"} xref: ICD9:743.49 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -23573,7 +23574,7 @@ replaced_by: MONDO:0019172 id: MONDO:0001478 name: anisometropia def: "A condition of an inequality of refractive power of the two eyes." [MESH:D015858] -synonym: "anisometropia" EXACT [MONDO:ambiguous] +synonym: "anisometropia" EXACT [DOID:12273, ICD10CM:H52.31, icd11.foundation:386251928, MONDO:ambiguous] synonym: "anisometropia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: CSP:1116-1678 {source="DOID:12273"} xref: DOID:12273 {source="MONDO:equivalentTo"} @@ -23594,7 +23595,7 @@ name: cutaneous diphtheria def: "A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cutaneous diphtheria" EXACT [DOID:12275, NCIT:C34544] +synonym: "cutaneous diphtheria" EXACT [DOID:12275, ICD10CM:A36.3, icd11.foundation:618920860, NCIT:C34544] xref: DOID:12275 {source="MONDO:equivalentTo"} xref: ICD10CM:A36.3 {source="MONDO:equivalentTo", source="DOID:12275"} xref: icd11.foundation:618920860 {source="MONDO:equivalentTo"} @@ -23614,7 +23615,7 @@ name: malignant tumor of undescended testis synonym: "malignant neoplasm of retained testis" EXACT [DOID:12276] synonym: "malignant neoplasm of undescended testis" EXACT [DOID:12276, ICD9CM:186.0] synonym: "malignant tumor of retained testis" EXACT [DOID:12276] -synonym: "malignant tumour of retained testis" EXACT OMO:0003005 [] +synonym: "malignant tumour of retained testis" EXACT OMO:0003005 [DOID:12276] xref: DOID:12276 {source="MONDO:equivalentTo"} xref: ICD10CM:C62.0 {source="DOID:12276"} xref: ICD9:186.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12276"} @@ -23632,9 +23633,9 @@ name: femoral vein thrombophlebitis def: "A thrombophlebitis that involves the femoral vein." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "femoral vein thrombophlebitis" EXACT [MONDO:patterns/location] +synonym: "femoral vein thrombophlebitis" EXACT [DOID:12282, MONDO:patterns/location] synonym: "phlebitis and thrombophlebitis of femoral vein" EXACT [DOID:12282] -synonym: "phlebitis and thrombophlebitis of femoral vein (deep) (superficial)" EXACT [DOID:12282, ICD9CM:451.11] +synonym: "phlebitis and thrombophlebitis of femoral vein (deep) (superficial)" EXACT [ICD9CM:451.11] synonym: "thrombophlebitis of deep femoral vein" EXACT [DOID:12282] synonym: "thrombophlebitis of femoral vein" EXACT [MONDO:design_pattern] synonym: "thrombophlebitis of the femoral vein" EXACT [DOID:12282] @@ -23655,7 +23656,7 @@ name: testicular leukemia def: "A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03" [NCIT:C9277] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "testicular leukemia" EXACT [NCIT:C9277] +synonym: "testicular leukemia" EXACT [DOID:12286, NCIT:C9277] xref: DOID:12286 {source="MONDO:equivalentTo"} xref: MEDGEN:234941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9277 {source="MONDO:equivalentTo", source="DOID:12286", source="MONDO:exact-label-match"} @@ -23674,10 +23675,10 @@ id: MONDO:0001484 name: paranoid schizophrenia def: "A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect." [NCIT:P378] synonym: "chronic paranoid schizophrenia" EXACT [DOID:1229] -synonym: "paranoid type schizophrenia" EXACT [DOID:1229, ICD9CM:295.3] +synonym: "paranoid type schizophrenia" EXACT [DOID:1229, ICD9CM:295.3, NCIT:C35006] synonym: "paranoid type schizophrenia subchronic state" EXACT [DOID:1229] synonym: "paraphrenia - late" EXACT [DOID:1229] -synonym: "paraphrenic schizophrenia" EXACT [DOID:1229] +synonym: "paraphrenic schizophrenia" EXACT [DOID:1229, ICD10CM:F20.0] xref: DOID:1229 {source="MONDO:equivalentTo"} xref: ICD10CM:F20.0 {source="MONDO:equivalentTo", source="DOID:1229"} xref: ICD9:295.3 {source="DOID:1229"} @@ -23780,7 +23781,7 @@ def: "A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gen subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "granular corneal dystrophy" EXACT [DOID:12318, ICD9CM:371.53] +synonym: "granular corneal dystrophy" EXACT [DOID:12318, ICD10CM:H18.53, ICD9CM:371.53, NCIT:C34651] xref: DOID:12318 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.53 {source="DOID:12318", source="MONDO:equivalentTo"} xref: ICD9:371.53 {source="DOID:12318", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -23825,7 +23826,7 @@ id: MONDO:0001493 name: chronic pulmonary heart disease def: "Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure." [NCIT:C34478] subset: otar {source="MONDO:OTAR"} -synonym: "Cor pulmonale" BROAD [NCIT:C34478] +synonym: "Cor pulmonale" BROAD [] xref: DOID:12326 {source="MONDO:equivalentTo"} xref: ICD9:416.8 {source="DOID:12326", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:416.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -23842,9 +23843,9 @@ is_a: MONDO:0004596 {source="DOID:12326"} ! cor pulmonale id: MONDO:0001494 name: obsolete transvestism def: "OBSOLETE. A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing." [NCIT:P378] -synonym: "cross dresser" EXACT [DOID:1233] -synonym: "dual-role transvestism" EXACT [DOID:1233] -synonym: "Transvestic fetishism" EXACT [DOID:1233, ICD9CM:302.3] +synonym: "cross dresser" EXACT [] +synonym: "dual-role transvestism" EXACT [] +synonym: "Transvestic fetishism" EXACT [ICD9CM:302.3] xref: DOID:1233 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:F64.1 {source="DOID:1233"} xref: ICD10CM:F65.1 {source="DOID:1233"} @@ -23904,7 +23905,7 @@ id: MONDO:0001498 name: varicocele def: "A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." [MESH:D014646] subset: otar {source="MONDO:OTAR"} -synonym: "scrotal varices" EXACT [DOID:12337, ICD9CM:456.4] +synonym: "scrotal varices" EXACT [DOID:12337, ICD10CM:I86.1, ICD9CM:456.4] synonym: "scrotum varicose disease" EXACT [MONDO:patterns/location] synonym: "varicose disease of scrotum" EXACT [MONDO:design_pattern] xref: DOID:12337 {source="MONDO:equivalentTo"} @@ -23930,7 +23931,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "lymphoma of retroperitoneal space" EXACT [MONDO:design_pattern] synonym: "primary retroperitoneal lymphoma" EXACT [NCIT:C7353] -synonym: "retroperitoneal lymphoma" EXACT [NCIT:C7353] +synonym: "retroperitoneal lymphoma" EXACT [DOID:12339, NCIT:C7353] synonym: "retroperitoneal space lymphoma" EXACT [MONDO:patterns/location] xref: DOID:12339 {source="MONDO:equivalentTo"} xref: MEDGEN:233407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -23968,7 +23969,7 @@ name: retroperitoneal sarcoma def: "A sarcoma involving a retroperitoneal space." [MONDO:patterns/sarcoma] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "retroperitoneal sarcoma" EXACT [NCIT:C4832] +synonym: "retroperitoneal sarcoma" EXACT [DOID:12341, NCIT:C4832] synonym: "retroperitoneal space sarcoma" EXACT [MONDO:patterns/location] synonym: "sarcoma of retroperitoneal space" EXACT [MONDO:patterns/sarcoma] xref: DOID:12341 {source="MONDO:equivalentTo"} @@ -23989,8 +23990,8 @@ def: "A carcinoma that arises from epithelial cells of the retroperitoneal space subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of retroperitoneal space" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of retroperitoneum" EXACT [DOID:12342, NCIT:C7352] -synonym: "carcinoma of the retroperitoneum" EXACT [DOID:12342, NCIT:C7352] -synonym: "retroperitoneal cancer" BROAD [NCIT:C7352] +synonym: "carcinoma of the retroperitoneum" EXACT [NCIT:C7352] +synonym: "retroperitoneal cancer" BROAD [] synonym: "retroperitoneal carcinoma" EXACT [NCIT:C7352] synonym: "retroperitoneal space carcinoma" EXACT [MONDO:patterns/location] xref: DOID:12342 {source="MONDO:equivalentTo"} @@ -24018,7 +24019,7 @@ is_a: MONDO:0004390 {source="DOID:12349"} ! ocular hypotension id: MONDO:0001504 name: fetishistic disorder def: "A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects (the \"fetish\")." [NCIT:P378] {source="https://orcid.org/0000-0001-5208-3432"} -synonym: "fetishism" EXACT DEPRECATED [DOID:1235] +synonym: "fetishism" EXACT DEPRECATED [DOID:1235, ICD10CM:F65.0, NCIT:C94353] xref: DOID:1235 {source="MONDO:equivalentTo"} xref: ICD10CM:F65.0 {source="MONDO:equivalentTo", source="DOID:1235"} xref: ICD9:302.81 {source="MONDO:equivalentTo", source="DOID:1235", source="MONDO:i2s"} @@ -24036,11 +24037,11 @@ id: MONDO:0001505 name: alcoholic hepatitis def: "Acute hepatitis resulting from ingestion of alcohol." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "acute alcoholic Hepatitis" EXACT [DOID:12351, NCIT:C34352] +synonym: "acute alcoholic Hepatitis" EXACT [DOID:12351] synonym: "acute alcoholic hepatitis" EXACT [DOID:12351, ICD9CM:571.1] synonym: "acute alcoholic liver disease" EXACT [DOID:12351] -synonym: "alcoholic Hepatitis" EXACT [DOID:12351, NCIT:C34684] -synonym: "alcoholic hepatitis" EXACT [DOID:12351] +synonym: "alcoholic Hepatitis" EXACT [DOID:12351, ICD10CM:K70.1, icd11.foundation:229221394, NCIT:C34684] +synonym: "alcoholic hepatitis" EXACT [DOID:12351, ICD10CM:K70.1, icd11.foundation:229221394, NCIT:C34684] xref: CSP:1754-6978 {source="DOID:12351"} xref: DOID:12351 {source="MONDO:equivalentTo"} xref: EFO:1001345 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -24081,7 +24082,7 @@ id: MONDO:0001507 name: viral labyrinthitis def: "An labyrinthitis caused by infection with Viruses." [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "epidemic vertigo" EXACT [DOID:12357, ICD9CM:078.81] -synonym: "epidemic vertigo (finding)" EXACT [DOID:12357] +synonym: "epidemic vertigo (finding)" EXACT [] synonym: "Viruses caused labyrinthitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses labyrinthitis" EXACT [] xref: DOID:12357 {source="MONDO:equivalentTo"} @@ -24181,7 +24182,7 @@ is_a: MONDO:0004751 {source="DOID:12364"} ! disease of orbital part of eye adnex id: MONDO:0001514 name: prolapse of urethra def: "Prolapse of the urethral mucosa from the exterior urethral opening." [NCIT:P378] -synonym: "urethrocele" EXACT [DOID:12369, ICD9CM:618.03] +synonym: "urethrocele" EXACT [DOID:12369, ICD10CM:N81.0, ICD9CM:618.03] xref: DOID:12369 {source="MONDO:equivalentTo"} xref: ICD10CM:N81.0 {source="DOID:12369", source="MONDO:equivalentTo"} xref: ICD9:599.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -24298,7 +24299,7 @@ id: MONDO:0001519 name: entropion def: "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" [MESH:D004774] subset: otar {source="MONDO:OTAR"} -synonym: "entropion" EXACT [MONDO:ambiguous] +synonym: "entropion" EXACT [DOID:12397, MONDO:ambiguous] synonym: "entropion (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12397 {source="MONDO:equivalentTo"} xref: HP:0000621 {source="MONDO:otherHierarchy"} @@ -24317,8 +24318,8 @@ property_value: IAO:0000589 "entropion (disease)" xsd:string id: MONDO:0001520 name: kleptomania def: "A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft." [NCIT:C94333] -synonym: "kleptomania" EXACT [NCIT:C94333] -synonym: "pathological stealing" EXACT [DOID:12400] +synonym: "kleptomania" EXACT [DOID:12400, ICD10CM:F63.2, icd11.foundation:804604349, NCIT:C94333] +synonym: "pathological stealing" EXACT [DOID:12400, ICD10CM:F63.2, icd11.foundation:804604349] xref: DOID:12400 {source="MONDO:equivalentTo"} xref: ICD10CM:F63.2 {source="MONDO:equivalentTo", source="DOID:12400"} xref: icd11.foundation:804604349 {source="MONDO:equivalentTo"} @@ -24418,7 +24419,7 @@ synonym: "malignant labia minora tumour" EXACT OMO:0003005 [] synonym: "malignant labium minora neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of labia minora" EXACT [DOID:1243, ICD9CM:184.2, NCIT:C7637] synonym: "malignant neoplasm of labium minora" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of labium minus" EXACT [DOID:1243, MTH:U001388] +synonym: "malignant neoplasm of labium minus" EXACT [DOID:1243, ICD10CM:C51.1, MTH:U001388] synonym: "malignant neoplasm of the labia minora" EXACT [NCIT:C7637] synonym: "malignant tumor of labia minora" EXACT [DOID:1243, NCIT:C7637] synonym: "malignant tumor of the labia minora" EXACT [NCIT:C7637] @@ -24460,12 +24461,12 @@ synonym: "cancer of mammalian vulva" EXACT [MONDO:patterns/cancer] synonym: "malignant mammalian vulva neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of mammalian vulva" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the vulva" EXACT [NCIT:C7502] -synonym: "malignant neoplasm of vulva" EXACT [NCIT:C7502] -synonym: "malignant neoplasm of vulva unspecified" EXACT [DOID:1245] -synonym: "malignant neoplasm of vulva, NOS" RELATED EXCLUDE [DOID:1245] -synonym: "malignant neoplasm of vulva, unspecified" EXACT [DOID:1245, ICD9CM:184.4] +synonym: "malignant neoplasm of vulva" EXACT [DOID:1245, NCIT:C7502] +synonym: "malignant neoplasm of vulva unspecified" EXACT [] +synonym: "malignant neoplasm of vulva, NOS" RELATED EXCLUDE [] +synonym: "malignant neoplasm of vulva, unspecified" EXACT [ICD9CM:184.4] synonym: "malignant tumor of the vulva" EXACT [NCIT:C7502] -synonym: "malignant tumor of vulva" EXACT [NCIT:C7502] +synonym: "malignant tumor of vulva" EXACT [DOID:1245, NCIT:C7502] synonym: "malignant tumour of the vulva" EXACT OMO:0003005 [] synonym: "malignant tumour of vulva" EXACT OMO:0003005 [] synonym: "malignant vulva neoplasm" EXACT [NCIT:C7502] @@ -24475,12 +24476,12 @@ synonym: "malignant vulvar neoplasm" EXACT [NCIT:C7502] synonym: "malignant vulvar tumor" EXACT [DOID:1245, NCIT:C7502] synonym: "malignant vulvar tumour" EXACT OMO:0003005 [] synonym: "mammalian vulva cancer" EXACT [MONDO:patterns/location] -synonym: "neoplasm of vulva" BROAD [DOID:1245] +synonym: "neoplasm of vulva" BROAD [] synonym: "vulval cancer" EXACT [DOID:1245] -synonym: "vulval neoplasm" BROAD [DOID:1245] +synonym: "vulval neoplasm" BROAD [] synonym: "vulvar cancer" EXACT [MONDO:patterns/location] -synonym: "vulvar neoplasm" BROAD EXCLUDE [DOID:1245] -synonym: "vulvar tumor" BROAD EXCLUDE [DOID:1245] +synonym: "vulvar neoplasm" BROAD EXCLUDE [] +synonym: "vulvar tumor" BROAD EXCLUDE [] synonym: "vulvar tumour" BROAD OMO:0003005 [] xref: DOID:1245 {source="MONDO:equivalentTo"} xref: ICD10CM:C51 {source="DOID:1245"} @@ -24526,8 +24527,8 @@ is_a: MONDO:0002280 {source="DOID:12450"} ! anemia id: MONDO:0001530 name: secondary hyperparathyroidism of renal origin synonym: "hyperparathyroidism due to renal insufficiency" EXACT [DOID:12465] -synonym: "secondary hyperparathyroidism" RELATED EXCLUDE [DOID:12465] -synonym: "secondary hyperparathyroidism (of renal origin)" EXACT [DOID:12465, ICD9CM:588.81] +synonym: "secondary hyperparathyroidism" RELATED EXCLUDE [] +synonym: "secondary hyperparathyroidism (of renal origin)" EXACT [ICD9CM:588.81] xref: DOID:12465 {source="MONDO:equivalentTo"} xref: ICD10CM:N25.81 {source="MONDO:equivalentTo", source="DOID:12465"} xref: icd11.foundation:610229783 {source="MONDO:equivalentTo"} @@ -24584,7 +24585,7 @@ intersection_of: disease_disrupts GO:0007596 ! blood coagulation id: MONDO:0001532 name: capillariasis def: "A infectious disease involving the Capillaria." [MONDO:patterns/infectious_disease_by_agent] -synonym: "Capillaria infection" EXACT [MONDO:patterns/infectious_disease_by_agent] +synonym: "Capillaria infection" EXACT [DOID:12474, MONDO:patterns/infectious_disease_by_agent] synonym: "infections, Capillaria" RELATED [MONDO:patterns/infectious_disease_by_agent] xref: DOID:12474 {source="MONDO:equivalentTo"} xref: ICD10CM:B81.1 {source="DOID:12474"} @@ -24626,8 +24627,8 @@ synonym: "disease of vagus nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vagus nerve" EXACT [] synonym: "disorder of pneumogastric [10th] nerve" EXACT [DOID:12491, ICD9CM:352.3] synonym: "disorder of vagal nerve" EXACT [DOID:12491] -synonym: "disorder of vagus nerve" EXACT [MONDO:patterns/location_top] -synonym: "vagus nerve disease" EXACT [MONDO:patterns/location] +synonym: "disorder of vagus nerve" EXACT [DOID:12491, MONDO:patterns/location_top] +synonym: "vagus nerve disease" EXACT [DOID:12491, MONDO:patterns/location] synonym: "vagus nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Vagus nerve disorder" EXACT [DOID:12491, NCIT:C27591] xref: DOID:12491 {source="MONDO:equivalentTo"} @@ -24649,7 +24650,7 @@ name: vaginal leiomyoma def: "A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6373] synonym: "leiomyoma of the vagina" EXACT [NCIT:C6373] synonym: "leiomyoma of vagina" EXACT [DOID:125, NCIT:C6373] -synonym: "vagina leiomyoma" EXACT [MONDO:patterns/location] +synonym: "vagina leiomyoma" EXACT [DOID:125, MONDO:patterns/location] synonym: "vaginal leiomyoma" EXACT [NCIT:C6373] xref: DOID:125 {source="MONDO:equivalentTo"} xref: MEDGEN:277859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -24755,7 +24756,7 @@ def: "A peripheral nerve lesion that involves the plantar nerve." [MONDO:pattern subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "lesion of plantar nerve" EXACT [DOID:12524, ICD9CM:355.6] -synonym: "lesion of plantar nerve, NOS" RELATED EXCLUDE [DOID:12524] +synonym: "lesion of plantar nerve, NOS" RELATED EXCLUDE [] synonym: "peripheral nerve lesion of plantar nerve" EXACT [] synonym: "plantar nerve peripheral nerve lesion" EXACT [MONDO:patterns/location] xref: DOID:12524 {source="MONDO:equivalentTo"} @@ -24894,8 +24895,8 @@ subset: rare synonym: "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anaemia associated with distorted erythrocytes ('burr cells')" RELATED OMO:0003005 [] synonym: "acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')" RELATED [GARD:0006588] synonym: "haemolytic-uraemic syndrome" EXACT [DOID:12554] -synonym: "hemolytic uremic syndrome" EXACT [DOID:12554] -synonym: "HUS" EXACT ABBREVIATION [NCIT:C75545] +synonym: "hemolytic uremic syndrome" EXACT [DOID:12554, NCIT:C75545, Orphanet:544458] +synonym: "HUS" EXACT ABBREVIATION [NCIT:C75545, Orphanet:544458] xref: DOID:12554 {source="MONDO:equivalentTo"} xref: GARD:22233 {source="MONDO:GARD"} xref: ICD10CM:D59.3 {source="MONDO:equivalentTo", source="DOID:12554"} @@ -24924,7 +24925,7 @@ replaced_by: MONDO:0007473 id: MONDO:0001551 name: ulceration of vulva subset: otar {source="MONDO:OTAR"} -synonym: "ulceration of vulva" EXACT [] +synonym: "ulceration of vulva" EXACT [DOID:12566, ICD10CM:N76.6] synonym: "vulvar ulceration" RELATED [] xref: DOID:12566 {source="MONDO:equivalentTo"} xref: ICD10CM:N76.6 {source="MONDO:equivalentTo"} @@ -24946,7 +24947,7 @@ id: MONDO:0001552 name: dyscalculia def: "A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties." [NCIT:C97165] synonym: "disorder of arithmetical skills" EXACT [DOID:12568] -synonym: "dyscalculia" EXACT [MONDO:ambiguous, NCIT:C97165] +synonym: "dyscalculia" EXACT [DOID:12568, icd11.foundation:308101648, MONDO:ambiguous, NCIT:C97165] synonym: "dyscalculia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "mathematics disorder" EXACT [DOID:12568, ICD9CM:315.1] xref: DOID:12568 {source="MONDO:equivalentTo"} @@ -25009,7 +25010,7 @@ id: MONDO:0001556 name: urethral obstruction def: "Blockage of the normal flow of urine in the urethra." [NCIT:P378] synonym: "obstruction of urethra" EXACT [DOID:12577] -synonym: "urethral obstruction" EXACT [MONDO:ambiguous] +synonym: "urethral obstruction" EXACT [DOID:12577, MONDO:ambiguous] synonym: "urethral obstruction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12577 {source="MONDO:equivalentTo"} xref: HP:0000796 {source="MONDO:otherHierarchy"} @@ -25032,10 +25033,10 @@ synonym: "bursitis of elbow region" EXACT [DOID:12581] synonym: "bursitis of olecranon" EXACT [MONDO:design_pattern] synonym: "capped elbow" EXACT [DOID:12581] synonym: "elbow bursitis" EXACT [DOID:12581] -synonym: "elbow bursitis (& olecranon)" EXACT [DOID:12581] +synonym: "elbow bursitis (& olecranon)" EXACT [] synonym: "miner's elbow" EXACT [DOID:12581] synonym: "Miners' elbow" EXACT [DOID:12581] -synonym: "olecranon bursitis" EXACT [MONDO:patterns/location] +synonym: "olecranon bursitis" EXACT [DOID:12581, ICD10CM:M70.2, MONDO:patterns/location] synonym: "shoe boil" EXACT [DOID:12581] xref: DOID:12581 {source="MONDO:equivalentTo"} xref: ICD10CM:M70.2 {source="MONDO:equivalentTo", source="DOID:12581"} @@ -25062,9 +25063,9 @@ def: "A rare, lethal congenital malformation characterized by bilateral renal ag comment: Editor note: check for subtypes, relationship to OMIM:263200 subset: otar {source="MONDO:OTAR"} synonym: "oligohydramnios sequence" EXACT [GARD:0004462, NCIT:C40435] -synonym: "Potter syndrome" EXACT [DOID:12594, GARD:0004462] +synonym: "Potter syndrome" EXACT [DOID:12594, GARD:0004462, NCIT:C40435] synonym: "Potter's sequence" EXACT [NCIT:C40435] -synonym: "Potter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Potter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:12594, ICD10CM:Q60.6, MONDO:LexicalVariant] xref: DOID:12594 {source="MONDO:equivalentTo"} xref: ICD10CM:Q60.6 {source="MONDO:equivalentTo", source="DOID:12594"} xref: MEDGEN:472617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -25093,7 +25094,7 @@ name: hypertrophic pyloric stenosis def: "An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "congenital constriction of the pylorus" EXACT [NCIT:C98952] -synonym: "congenital hypertrophic pyloric stenosis" EXACT [DOID:12638] +synonym: "congenital hypertrophic pyloric stenosis" EXACT [DOID:12638, ICD10CM:Q40.0] synonym: "congenital Hypertrophy of the pylorus" EXACT [NCIT:C98952] synonym: "congenital or infantile stricture of pylorus" EXACT [DOID:12638] synonym: "congenital pyloric stenosis" EXACT [NCIT:C98952] @@ -25121,9 +25122,9 @@ name: pyloric stenosis def: "Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer." [NCIT:C34966] subset: otar {source="MONDO:OTAR"} synonym: "gastric outflow obstruction" EXACT [DOID:3122] -synonym: "gastric outlet obstruction" EXACT [MONDO:0006768, NCIT:C34966] +synonym: "gastric outlet obstruction" EXACT [DOID:3122, MONDO:0006768, NCIT:C34966] synonym: "GOO" EXACT ABBREVIATION [Wikipedia:Gastric_outlet_obstruction] -synonym: "pyloric stenosis" EXACT [MONDO:ambiguous, NCIT:C34966] +synonym: "pyloric stenosis" EXACT [DOID:12639, MONDO:ambiguous, NCIT:C34966] synonym: "pyloric stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12639 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:3122 {source="EFO:1000947", source="MONDO:equivalentTo"} @@ -25145,7 +25146,7 @@ property_value: IAO:0000589 "pyloric stenosis (disease)" xsd:string [Term] id: MONDO:0001562 name: displacement of cardia through esophageal hiatus -synonym: "congenital hiatus hernia" EXACT [DOID:12641, ICD9CM:750.6] +synonym: "congenital hiatus hernia" EXACT [DOID:12641, ICD10CM:Q40.1, ICD9CM:750.6] xref: DOID:12641 {source="MONDO:equivalentTo"} xref: ICD10CM:Q40.1 {source="MONDO:equivalentTo", source="DOID:12641"} xref: ICD9:750.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12641"} @@ -25161,7 +25162,7 @@ def: "A disease involving the vestibulocochlear nerve." [https://orcid.org/0000- subset: otar {source="MONDO:OTAR"} synonym: "acoustic nerve disease" EXACT [DOID:12657, ICD9CM:388.5] synonym: "acoustic nerve disorder" EXACT [NCIT:C27207] -synonym: "acoustic nerve disorder NOS" EXACT [NCIT:C27207] +synonym: "acoustic nerve disorder NOS" EXACT [] synonym: "disease of vestibulocochlear nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vestibulocochlear nerve" EXACT [] synonym: "disorder of acoustic nerve" EXACT [] @@ -25169,7 +25170,7 @@ synonym: "disorder of acoustovestibular nerve" RELATED [] synonym: "disorder of eighth nerve" RELATED [] synonym: "disorder of the vestibulocochlear nerve" RELATED [] synonym: "disorder of vestibulocochlear nerve" EXACT [MONDO:patterns/location_top] -synonym: "vestibulocochlear nerve disease" EXACT [MONDO:patterns/location] +synonym: "vestibulocochlear nerve disease" EXACT [DOID:12657, MONDO:patterns/location] synonym: "vestibulocochlear nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "vestibulocochlear nerve disorder" EXACT [NCIT:C27207] xref: DOID:12657 {source="MONDO:equivalentTo"} @@ -25194,7 +25195,7 @@ name: binocular vision disease def: "Any inability to efficiently utilize and/or sustain binocular vision." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "binocular vision disorder" EXACT [NCIT:C34422] -synonym: "simultaneous visual perception without fusion" NARROW [DOID:12667] +synonym: "simultaneous visual perception without fusion" NARROW [] xref: DOID:12667 {source="MONDO:equivalentTo"} xref: EFO:0009535 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H53.30 {source="DOID:12667"} @@ -25224,7 +25225,7 @@ id: MONDO:0001566 name: hypercalcemia disease def: "Abnormally high concentration of calcium in the peripheral blood." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "hypercalcemia" EXACT [MONDO:ambiguous] +synonym: "hypercalcemia" EXACT [DOID:12678, ICD10CM:E83.52, MONDO:ambiguous, NCIT:C3112] xref: DOID:12678 {source="MONDO:equivalentTo"} xref: HP:0003072 {source="MONDO:otherHierarchy"} xref: ICD10CM:E83.52 {source="DOID:12678", source="MONDO:equivalentTo"} @@ -25283,10 +25284,10 @@ subset: gard_rare {source="GARD:223", source="MONDO:GARD"} subset: nord_rare {source="NORD:715", source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:252175"} subset: rare -synonym: "acoustic neurilemmoma" EXACT [NCIT:C3276] +synonym: "acoustic neurilemmoma" EXACT [icd11.foundation:480288993, NCIT:C3276] synonym: "acoustic neurilemoma" EXACT [GARD:0000223, Orphanet:252175] -synonym: "acoustic neurinoma" EXACT [GARD:0000223, Orphanet:252175] -synonym: "acoustic neuroma" EXACT [NCIT:C3276, Orphanet:252175] +synonym: "acoustic neurinoma" EXACT [GARD:0000223, icd11.foundation:480288993, Orphanet:252175] +synonym: "acoustic neuroma" EXACT [DOID:12689, icd11.foundation:480288993, NCIT:C3276, Orphanet:252175] synonym: "acoustic schwannoma" EXACT [NCIT:C3276] synonym: "acoustic tumor" BROAD [GARD:0000223] synonym: "acoustic tumour" BROAD OMO:0003005 [] @@ -25294,7 +25295,7 @@ synonym: "neurilemoma, acoustic" EXACT [NCIT:C3276] synonym: "neurinoma of the acoustic nerve" EXACT [GARD:0000223] synonym: "neuroma, acoustic" EXACT [NCIT:C3276] synonym: "vestibular neurilemmoma" EXACT [DOID:12689, NCIT:C3276] -synonym: "vestibular schwannoma" EXACT [DOID:12689, MONDO:ambiguous, NCIT:C3276] +synonym: "vestibular schwannoma" EXACT [DOID:12689, MONDO:ambiguous, NCIT:C3276, Orphanet:252175] synonym: "vestibular schwannoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: CSP:2012-6947 {source="DOID:12689"} xref: DOID:12689 {source="MONDO:equivalentTo"} @@ -25358,10 +25359,10 @@ synonym: "fibroid" EXACT [NCIT:C3157] synonym: "fibroid neoplasm" EXACT [NCIT:C3157] synonym: "fibroid tumor" EXACT [NCIT:C3157] synonym: "fibroid tumour" EXACT OMO:0003005 [] -synonym: "leiomyoma" EXACT [NCIT:C3157] +synonym: "leiomyoma" EXACT [DOID:127, NCIT:C3157] synonym: "leiomyoma, benign" EXACT [NCIT:C3157] -synonym: "leiomyomatous neoplasm" EXACT [NCIT:C3157] -synonym: "leiomyomatous neoplasm (morphologic abnormality)" EXACT [DOID:127] +synonym: "leiomyomatous neoplasm" EXACT [DOID:127, NCIT:C3157] +synonym: "leiomyomatous neoplasm (morphologic abnormality)" EXACT [] synonym: "leiomyomatous tumor" EXACT [DOID:127, NCIT:C3157] synonym: "leiomyomatous tumour" EXACT OMO:0003005 [] xref: DOID:127 {source="MONDO:equivalentTo"} @@ -25390,7 +25391,7 @@ id: MONDO:0001574 name: capillary disorder def: "A disease involving a capillary." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "capillary disease" EXACT [MONDO:patterns/location] +synonym: "capillary disease" EXACT [DOID:1271, MONDO:patterns/location] synonym: "capillary disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of capillaries" EXACT [DOID:1271] synonym: "disease of capillary" EXACT [MONDO:patterns/location_top] @@ -25419,7 +25420,7 @@ intersection_of: disease_has_location UBERON:0001982 ! capillary id: MONDO:0001575 name: chronic gonococcal salpingitis def: "Chronic form of gonococcal salpingitis." [MONDO:patterns/chronic] -synonym: "gonococcal salpingitis" BROAD [DOID:12718] +synonym: "gonococcal salpingitis" BROAD [] synonym: "gonococcal salpingitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:12718 {source="MONDO:equivalentTo"} xref: icd11.foundation:1233448408 {source="MONDO:equivalentTo"} @@ -25601,24 +25602,24 @@ subset: ordo_disorder {source="Orphanet:579"} subset: orphanet_rare {source="Orphanet:579"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alpha-L-iduronidase deficiency" EXACT [Orphanet:579] +synonym: "Alpha-L-iduronidase deficiency" EXACT [icd11.foundation:1539226250, Orphanet:579] synonym: "attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)" RELATED [GARD:0010335] -synonym: "Hurler syndrome" NARROW [DOID:12802] +synonym: "Hurler syndrome" NARROW [] synonym: "Hurler syndrome (subtype)" RELATED [GARD:0010335] -synonym: "Hurler-Scheie syndrome" RELATED EXCLUDE [DOID:12802] +synonym: "Hurler-Scheie syndrome" RELATED EXCLUDE [] synonym: "Hurler-Scheie syndrome (subtype)" RELATED [GARD:0010335] synonym: "IDUA deficiency" RELATED [GARD:0010335] synonym: "iduronidase deficiency disease" EXACT [DOID:12802] -synonym: "lipochondrodystrophy" EXACT [DOID:12802] +synonym: "lipochondrodystrophy" EXACT [DOID:12802, icd11.foundation:1539226250] synonym: "MPS 1" RELATED [GARD:0010335] synonym: "MPS I" RELATED [GARD:0010335] synonym: "MPS I - Hurler syndrome" EXACT [DOID:12802] synonym: "MPS1" EXACT ABBREVIATION [Orphanet:579] synonym: "MPSI" EXACT ABBREVIATION [Orphanet:579] -synonym: "mucopolysaccharidosis I" RELATED [DOID:12802] -synonym: "mucopolysaccharidosis type 1" EXACT CLINGEN_LABEL [MONDO:0018934] -synonym: "Mucopolysaccharidosis Type I" EXACT [NORD:1462] -synonym: "mucopolysaccharidosis type I" EXACT [DOID:12802, MONDORULE:1, Orphanet:579] +synonym: "mucopolysaccharidosis I" RELATED [] +synonym: "mucopolysaccharidosis type 1" EXACT CLINGEN_LABEL [icd11.foundation:1539226250, MONDO:0018934, Orphanet:579] +synonym: "Mucopolysaccharidosis Type I" EXACT [NCIT:C85053, NORD:1462, Orphanet:579] +synonym: "mucopolysaccharidosis type I" EXACT [MONDORULE:1, NCIT:C85053, Orphanet:579] synonym: "mucopolysaccharidosis, MPS-I" EXACT [DOID:12802] synonym: "mucopolysaccharidosis, type 1" EXACT [DOID:12802] synonym: "Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)" RELATED [GARD:0010335] @@ -25671,7 +25672,7 @@ relationship: disease_has_location UBERON:0001817 ! lacrimal gland id: MONDO:0001589 name: obsolete vaginal enterocele comment: Represents finding. -synonym: "enterocele" BROAD [DOID:1283] +synonym: "enterocele" BROAD [] synonym: "vaginal hernia" RELATED [] xref: DOID:1283 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:K46 {source="DOID:1283"} @@ -25693,7 +25694,7 @@ name: quadriplegia def: "Paralysis of all four limbs." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "bilateral diplegia" EXACT [NCIT:C50721] -synonym: "tetraplegia" EXACT [DOID:12835] +synonym: "tetraplegia" EXACT [DOID:12835, NCIT:C50721] xref: DOID:12835 {source="MONDO:equivalentTo"} xref: EFO:0009684 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G82.5 {source="DOID:12835"} @@ -25763,7 +25764,7 @@ def: "An bursitis involving a pathogenic inflammatory response in the calcaneal subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Achilles bursitis or tendinitis" EXACT [DOID:12857, ICD9CM:726.71] -synonym: "capped hock" EXACT [DOID:12857] +synonym: "capped hock" EXACT [DOID:12857, icd11.foundation:426746156] synonym: "Haglund's deformity" EXACT [DOID:12857] synonym: "Haglund's disease" EXACT [DOID:12857] xref: DOID:12857 {source="MONDO:equivalentTo"} @@ -25790,14 +25791,14 @@ subset: ordo_disorder {source="Orphanet:1429"} subset: orphanet_rare {source="Orphanet:1429"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bch" RELATED [OMIM:118700] -synonym: "benign familial chorea" EXACT [Orphanet:1429] -synonym: "BHC" NARROW ABBREVIATION [OMIM:118700] -synonym: "chorea" RELATED EXCLUDE [DOID:12859, MONDO:0007324] -synonym: "chorea, benign hereditary" NARROW [OMIM:118700] -synonym: "hereditary benign chorea" NARROW [Orphanet:1429] -synonym: "hereditary chorea" RELATED [DOID:12859] -synonym: "hereditary progressive chorea without dementia" NARROW [OMIM:118700] +synonym: "Bch" RELATED [] +synonym: "benign familial chorea" EXACT [icd11.foundation:829618737, Orphanet:1429] +synonym: "BHC" NARROW ABBREVIATION [] +synonym: "chorea" RELATED EXCLUDE [MONDO:0007324] +synonym: "chorea, benign hereditary" NARROW [] +synonym: "hereditary benign chorea" NARROW [] +synonym: "hereditary chorea" RELATED [] +synonym: "hereditary progressive chorea without dementia" NARROW [] xref: DOID:12859 {source="MONDO:equivalentTo"} xref: EFO:0004152 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:15152 {source="MONDO:GARD"} @@ -25821,9 +25822,9 @@ relationship: excluded_subClassOf MONDO:0015548 {source="Orphanet:1429", source= id: MONDO:0001596 name: hypochondriasis def: "A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis." [NCIT:P378] -synonym: "hypochondria" EXACT [DOID:12883, NCIT:C9493] -synonym: "hypochondriacal disorder" EXACT [DOID:12883] -synonym: "hypochondriacal neurosis" EXACT [DOID:12883] +synonym: "hypochondria" EXACT [DOID:12883, icd11.foundation:675329566] +synonym: "hypochondriacal disorder" EXACT [DOID:12883, icd11.foundation:675329566] +synonym: "hypochondriacal neurosis" EXACT [DOID:12883, icd11.foundation:675329566] xref: DOID:12883 {source="MONDO:equivalentTo"} xref: ICD10CM:F45.2 {source="DOID:12883"} xref: ICD10CM:F45.21 {source="DOID:12883"} @@ -25846,7 +25847,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of submandibular gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of submandibular gland" EXACT [] synonym: "disorder of submandibular gland" EXACT [MONDO:patterns/location_top] -synonym: "submandibular gland disease" EXACT [MONDO:patterns/location] +synonym: "submandibular gland disease" EXACT [DOID:12897, MONDO:patterns/location] synonym: "submandibular gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:12897 {source="MONDO:equivalentTo"} xref: MEDGEN:52535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -25860,9 +25861,9 @@ intersection_of: disease_has_location UBERON:0001736 ! submandibular gland id: MONDO:0001598 name: benign lymphoepithelial lesion of salivary gland def: "A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma." [NCIT:C3949] -synonym: "benign lymphoepithelial lesion of salivary gland" EXACT [NCIT:C3949] -synonym: "benign lymphoepithelial lesion of the salivary gland" RELATED [NCIT:C3949] -synonym: "benign salivary gland lymphoepithelial lesion" RELATED [NCIT:C3949] +synonym: "benign lymphoepithelial lesion of salivary gland" EXACT [DOID:12899, icd11.foundation:1330363110, NCIT:C3949] +synonym: "benign lymphoepithelial lesion of the salivary gland" RELATED [] +synonym: "benign salivary gland lymphoepithelial lesion" RELATED [] synonym: "Godwin tumor" EXACT [DOID:12899, NCIT:C3949] synonym: "Godwin tumour" EXACT OMO:0003005 [] xref: DOID:12899 {source="MONDO:equivalentTo"} @@ -25886,10 +25887,10 @@ replaced_by: MONDO:0019191 id: MONDO:0001600 name: mucocele of salivary gland def: "A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction." [NCIT:P378] -synonym: "mucous retention cyst of salivary gland" EXACT [DOID:12904] -synonym: "ranula" EXACT [DOID:12904] -synonym: "salivary cyst" EXACT [DOID:12904, NCIT:C27649] -synonym: "salivary gland mucocele" EXACT [DOID:12904] +synonym: "mucous retention cyst of salivary gland" EXACT [DOID:12904, ICD10CM:K11.6] +synonym: "ranula" EXACT [DOID:12904, ICD10CM:K11.6] +synonym: "salivary cyst" EXACT [DOID:12904, icd11.foundation:48444833] +synonym: "salivary gland mucocele" EXACT [DOID:12904, icd11.foundation:48444833] xref: DOID:12904 {source="MONDO:equivalentTo"} xref: ICD10CM:K11.6 {source="DOID:12904", source="MONDO:equivalentTo"} xref: icd11.foundation:48444833 {source="MONDO:equivalentTo"} @@ -25928,11 +25929,11 @@ name: labia minora carcinoma def: "A carcinoma that arises from the labia minora." [NCIT:C9364] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "carcinoma of labia minora" EXACT [DOID:1293, NCIT:C9364] +synonym: "carcinoma of labia minora" EXACT [NCIT:C9364] synonym: "carcinoma of labium minora" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the labia minora" EXACT [NCIT:C9364] -synonym: "labia minora cancer" BROAD [DOID:1293, NCIT:C9364] -synonym: "labia minora carcinoma" EXACT [NCIT:C9364] +synonym: "labia minora cancer" BROAD [] +synonym: "labia minora carcinoma" EXACT [DOID:1293, NCIT:C9364] synonym: "labium minora carcinoma" EXACT [MONDO:patterns/location] xref: DOID:1293 {source="MONDO:equivalentTo"} xref: MEDGEN:233605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -25946,7 +25947,7 @@ intersection_of: disease_has_location UBERON:0004014 ! labium minora [Term] id: MONDO:0001603 name: paralytic lagophthalmos -synonym: "paralytic lagophthalmos" EXACT [MONDO:ambiguous] +synonym: "paralytic lagophthalmos" EXACT [DOID:12958, icd11.foundation:2122617367, MONDO:ambiguous] synonym: "paralytic lagophthalmos (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12958 {source="MONDO:equivalentTo"} xref: HP:0030003 {source="MONDO:otherHierarchy"} @@ -25992,7 +25993,7 @@ def: "Leukemia infiltrating the central nervous system structures." [NCIT:C5440] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "central nervous system leukaemia (disease)" EXACT OMO:0003005 [] -synonym: "central nervous system leukemia" EXACT [NCIT:C5440] +synonym: "central nervous system leukemia" EXACT [DOID:12969, NCIT:C5440] synonym: "central nervous system leukemia (disease)" EXACT [MONDO:patterns/location] synonym: "CNS leukaemia" EXACT OMO:0003005 [] synonym: "CNS leukemia" EXACT [NCIT:C5440] @@ -26038,8 +26039,8 @@ def: "A neoplasm involving a vagus nerve." [MONDO:patterns/neoplasm] synonym: "neoplasm of tenth cranial nerve" EXACT [NCIT:C5831] synonym: "neoplasm of the tenth cranial nerve" EXACT [NCIT:C5831] synonym: "neoplasm of the Vagus nerve" EXACT [NCIT:C5831] -synonym: "neoplasm of Vagus nerve" EXACT [NCIT:C5831] -synonym: "neoplasm of vagus nerve" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of Vagus nerve" EXACT [DOID:12984, NCIT:C5831] +synonym: "neoplasm of vagus nerve" EXACT [DOID:12984, MONDO:patterns/neoplasm, NCIT:C5831] synonym: "tenth cranial nerve neoplasm" EXACT [NCIT:C5831] synonym: "tenth cranial nerve neoplasms" EXACT [NCIT:C5831] synonym: "tenth cranial nerve tumor" EXACT [NCIT:C5831] @@ -26050,17 +26051,17 @@ synonym: "tumor of tenth cranial nerve" EXACT [NCIT:C5831] synonym: "tumor of the tenth cranial nerve" EXACT [NCIT:C5831] synonym: "tumor of the Vagus nerve" EXACT [NCIT:C5831] synonym: "tumor of Vagus nerve" EXACT [NCIT:C5831] -synonym: "tumor of vagus nerve" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of vagus nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5831] synonym: "tumour of tenth cranial nerve" EXACT OMO:0003005 [] synonym: "tumour of the tenth cranial nerve" EXACT OMO:0003005 [] synonym: "tumour of the Vagus nerve" EXACT OMO:0003005 [] synonym: "tumour of Vagus nerve" EXACT OMO:0003005 [] synonym: "tumour of vagus nerve" EXACT OMO:0003005 [] -synonym: "Vagus nerve neoplasm" EXACT [NCIT:C5831] +synonym: "Vagus nerve neoplasm" EXACT [DOID:12984, NCIT:C5831] synonym: "vagus nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Vagus nerve neoplasms" EXACT [NCIT:C5831] synonym: "Vagus nerve tumor" EXACT [NCIT:C5831] -synonym: "vagus nerve tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "vagus nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5831] synonym: "Vagus nerve tumors" EXACT [DOID:12984, NCIT:C5831] synonym: "Vagus nerve tumour" EXACT OMO:0003005 [] synonym: "vagus nerve tumour" EXACT OMO:0003005 [] @@ -26144,7 +26145,7 @@ is_a: MONDO:0004926 {source="DOID:12997"} ! dacryocystitis id: MONDO:0001612 name: carotid stenosis def: "A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents." [NCIT:P378] -synonym: "carotid artery stenosis" EXACT [NCIT:C95804] +synonym: "carotid artery stenosis" EXACT [DOID:13001, NCIT:C95804] synonym: "stenosis, carotid artery" EXACT [DOID:13001] xref: DOID:13001 {source="MONDO:equivalentTo"} xref: HP:0100546 @@ -26246,7 +26247,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:121752 ! Lacazia loboi id: MONDO:0001617 name: transient global amnesia def: "A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event." [NCIT:P378] -synonym: "transient global amnesia" EXACT [MONDO:ambiguous] +synonym: "transient global amnesia" EXACT [DOID:13027, ICD10CM:G45.4, icd11.foundation:1524600518, MONDO:ambiguous, NCIT:C85198] synonym: "transient global amnesia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:13027 {source="MONDO:equivalentTo"} xref: HP:0010534 {source="MONDO:otherHierarchy"} @@ -26356,7 +26357,7 @@ is_a: MONDO:0001604 {source="DOID:13037", source="ICD10CM:H02.22", source="icd11 [Term] id: MONDO:0001623 name: cicatricial lagophthalmos -synonym: "cicatricial lagophthalmos" EXACT [MONDO:ambiguous] +synonym: "cicatricial lagophthalmos" EXACT [DOID:13038, ICD10CM:H02.21, icd11.foundation:1868697470, MONDO:ambiguous] synonym: "cicatricial lagophthalmos (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:13038 {source="MONDO:equivalentTo"} xref: HP:0030004 {source="MONDO:otherHierarchy"} @@ -26425,7 +26426,7 @@ id: MONDO:0001627 name: dementia def: "Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "dementia" EXACT [NCIT:C4786] +synonym: "dementia" EXACT [DOID:1307, icd11.foundation:546689346, NCIT:C4786] synonym: "dementia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1307 {source="MONDO:equivalentTo"} xref: HP:0000726 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0001-9859-8589"} @@ -26456,13 +26457,13 @@ synonym: "cellulitis and abscess of finger and toe" EXACT [DOID:13074] synonym: "cellulitis and abscess of gluteal region" EXACT [DOID:13074] synonym: "cellulitis and abscess of trunk" EXACT [DOID:13074] synonym: "cellulitis and abscess of upper arm and forearm" EXACT [DOID:13074] -synonym: "dermatophytic onychia" EXACT [DOID:13074] +synonym: "dermatophytic onychia" EXACT [DOID:13074, ICD10CM:B35.1] synonym: "dermatophytic onychomycosis" EXACT [DOID:13074] -synonym: "dermatophytosis of nail" EXACT [DOID:13074, ICD9CM:110.1] +synonym: "dermatophytosis of nail" EXACT [DOID:13074, ICD10CM:B35.1, ICD9CM:110.1] synonym: "nail dermatophytosis" EXACT [MONDO:patterns/location] -synonym: "onychomycosis" EXACT [NCIT:C112214] +synonym: "onychomycosis" EXACT [ICD10CM:B35.1, NCIT:C112214] synonym: "onychomycosis due to dermatophyte" EXACT [DOID:13074] -synonym: "tinea unguium" EXACT [DOID:13074] +synonym: "tinea unguium" EXACT [DOID:13074, ICD10CM:B35.1, NCIT:C112214] xref: DOID:13074 {source="MONDO:equivalentTo"} xref: ICD10CM:B35.1 {source="MONDO:equivalentTo"} xref: ICD9:681.9 {source="DOID:13074"} @@ -26481,7 +26482,7 @@ relationship: disease_has_infectious_agent NCBITaxon:4890 ! Ascomycota id: MONDO:0001629 name: Jaccoud syndrome synonym: "Jaccoud syndrome" EXACT [DOID:13080] -synonym: "Jaccoud's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Jaccoud's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:13080, MONDO:LexicalVariant] xref: DOID:13080 {source="MONDO:equivalentTo"} xref: ICD10CM:M12.0 {source="DOID:13080"} xref: ICD10CM:M12.00 {source="DOID:13080"} @@ -26564,7 +26565,7 @@ intersection_of: disease_has_location UBERON:0001620 ! central retinal artery id: MONDO:0001634 name: bladder leiomyoma def: "A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6178] -synonym: "bladder leiomyoma" EXACT [NCIT:C6178] +synonym: "bladder leiomyoma" EXACT [DOID:13109, NCIT:C6178] synonym: "leiomyoma of bladder" EXACT [NCIT:C6178] synonym: "leiomyoma of the bladder" EXACT [NCIT:C6178] synonym: "leiomyoma of the urinary bladder" EXACT [DOID:13109, NCIT:C6178] @@ -26583,7 +26584,7 @@ intersection_of: disease_has_location UBERON:0001255 ! urinary bladder id: MONDO:0001635 name: bladder squamous papilloma def: "A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium." [NCIT:C39834] -synonym: "bladder squamous papilloma" EXACT [NCIT:C39834] +synonym: "bladder squamous papilloma" EXACT [DOID:13110, NCIT:C39834] xref: DOID:13110 {source="MONDO:equivalentTo"} xref: MEDGEN:267742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39834 {source="MONDO:equivalentTo", source="DOID:13110", source="MONDO:exact-label-match"} @@ -26634,9 +26635,9 @@ name: deficiency anemia subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deficiency anemias" EXACT [DOID:13121] +synonym: "deficiency anemias" EXACT [] synonym: "unspecified deficiency anaemia" EXACT OMO:0003005 [] -synonym: "unspecified deficiency anemia" EXACT [DOID:13121, ICD9CM:281.9] +synonym: "unspecified deficiency anemia" EXACT [ICD9CM:281.9] xref: DOID:13121 {source="MONDO:equivalentObsolete"} xref: ICD9:281.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:281.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13121"} @@ -26675,7 +26676,7 @@ synonym: "antepartum severe pre-eclampsia" EXACT [DOID:13129] synonym: "postpartum severe pre-eclampsia" EXACT [DOID:13129] synonym: "Preeclampsia with severe features" EXACT [NCIT:C112843] synonym: "severe pre-eclampsia, with delivery" EXACT [DOID:13129] -synonym: "severe preeclampsia" EXACT [DOID:13129] +synonym: "severe preeclampsia" EXACT [DOID:13129, NCIT:C112843] xref: DOID:13129 {source="MONDO:equivalentTo"} xref: icd11.foundation:479404771 {source="MONDO:equivalentTo"} xref: ICD9:642.50 {source="DOID:13129"} @@ -26741,7 +26742,7 @@ name: crescentic glomerulonephritis def: "A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "crescentic glomerulonephritis" EXACT [MONDO:ambiguous] +synonym: "crescentic glomerulonephritis" EXACT [DOID:13139, MONDO:ambiguous, NCIT:C35444] synonym: "crescentic glomerulonephritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:13139 {source="MONDO:equivalentTo"} xref: HP:0008653 {source="MONDO:otherHierarchy"} @@ -26788,8 +26789,8 @@ id: MONDO:0001648 name: esophageal candidiasis def: "Esophagitis resulting from Candida." [NCIT:P378] synonym: "Candida esophagitis" EXACT [DOID:13146, NCIT:C27027] -synonym: "candidal esophagitis" EXACT [DOID:13146, ICD9CM:112.84] -synonym: "candidiasis of the esophagus" EXACT [NCIT:C27027] +synonym: "candidal esophagitis" EXACT [DOID:13146, ICD10CM:B37.81, ICD9CM:112.84] +synonym: "candidiasis of the esophagus" EXACT [DOID:13146, NCIT:C27027] synonym: "candidiasis of the oesophagus" EXACT OMO:0003005 [] synonym: "esophageal moniliasis" EXACT [DOID:13146] synonym: "esophageal thrush" EXACT [DOID:13146] @@ -26808,7 +26809,7 @@ is_a: MONDO:0002026 {source="DOID:13146", source="ICD10CM:B37.81", source="ICD10 id: MONDO:0001649 name: fungal esophagitis def: "Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing." [NCIT:C27107] -synonym: "fungal esophagitis" EXACT [NCIT:C27107] +synonym: "fungal esophagitis" EXACT [DOID:13147, NCIT:C27107] xref: DOID:13147 {source="MONDO:equivalentTo"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:90960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -26825,10 +26826,10 @@ intersection_of: transmitted_by NCBITaxon:4751 ! Fungi id: MONDO:0001650 name: acute cystitis def: "An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain." [NCIT:P378] -synonym: "acute cystitis" EXACT [MONDO:ambiguous] +synonym: "acute cystitis" EXACT [DOID:13148, ICD10CM:N30.0, MONDO:ambiguous, NCIT:C26934] synonym: "acute cystitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cystitis, acute" EXACT [MONDO:patterns/acute] -synonym: "urinary tract infection" RELATED EXCLUDE [DOID:13148] +synonym: "urinary tract infection" RELATED EXCLUDE [] xref: DOID:13148 {source="MONDO:equivalentTo"} xref: ICD10CM:N30.0 {source="MONDO:equivalentTo", source="DOID:13148"} xref: ICD9:595.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13148"} @@ -26853,8 +26854,8 @@ id: MONDO:0001651 name: scrotum squamous cell carcinoma def: "A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement." [NCIT:P378] synonym: "scrotal squamous cell carcinoma" EXACT [DOID:13159, NCIT:C4643] -synonym: "scrotum squamous cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "squamous cell carcinoma of scrotum" RELATED [DOID:13159] +synonym: "scrotum squamous cell carcinoma" EXACT [DOID:13159, MONDO:patterns/location] +synonym: "squamous cell carcinoma of scrotum" RELATED [] synonym: "squamous cell carcinoma of the scrotum" EXACT [NCIT:C4643] xref: DOID:13159 {source="MONDO:equivalentTo"} xref: MEDGEN:138101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -26894,7 +26895,7 @@ synonym: "malignant neoplasm of prepuce" EXACT [MONDO:patterns/cancer] synonym: "malignant prepuce neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of foreskin" EXACT [DOID:13168] synonym: "malignant tumour of foreskin" EXACT OMO:0003005 [] -synonym: "prepuce cancer" EXACT [MONDO:patterns/location] +synonym: "prepuce cancer" EXACT [DOID:13168, MONDO:patterns/location] xref: DOID:13168 {source="MONDO:equivalentTo"} xref: ICD10CM:C60.0 {source="DOID:13168"} xref: ICD9:187.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13168"} @@ -26913,15 +26914,15 @@ def: "A malignant neoplasm involving the spermatic cord." [https://orcid.org/000 synonym: "cancer of spermatic cord" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of spermatic cord" EXACT [MONDO:patterns/cancer, NCIT:C3559] synonym: "malignant neoplasm of the spermatic cord" EXACT [NCIT:C3559] -synonym: "malignant spermatic cord neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant spermatic cord neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3559] synonym: "malignant spermatic cord tumor" EXACT [NCIT:C3559] synonym: "malignant spermatic cord tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of spermatic cord" EXACT [NCIT:C3559] +synonym: "malignant tumor of spermatic cord" EXACT [DOID:13169, NCIT:C3559] synonym: "malignant tumor of the spermatic cord" EXACT [DOID:13169, NCIT:C3559] synonym: "malignant tumour of spermatic cord" EXACT OMO:0003005 [] synonym: "malignant tumour of the spermatic cord" EXACT OMO:0003005 [] synonym: "spermatic cord Ca" EXACT [DOID:13169] -synonym: "spermatic cord cancer" EXACT [MONDO:patterns/location] +synonym: "spermatic cord cancer" EXACT [DOID:13169, MONDO:patterns/location] xref: DOID:13169 {source="MONDO:equivalentTo"} xref: ICD10CM:C63.1 {source="DOID:13169"} xref: ICD9:187.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13169"} @@ -26939,7 +26940,7 @@ intersection_of: disease_has_location UBERON:0005352 ! spermatic cord [Term] id: MONDO:0001655 name: dissociated nystagmus -synonym: "dissociated nystagmus" EXACT [DOID:13174, ICD9CM:379.55] +synonym: "dissociated nystagmus" EXACT [DOID:13174, ICD10CM:H55.04, icd11.foundation:50035755, ICD9CM:379.55] xref: DOID:13174 {source="MONDO:equivalentTo"} xref: ICD10CM:H55.04 {source="DOID:13174", source="MONDO:equivalentTo"} xref: icd11.foundation:50035755 {source="MONDO:equivalentTo"} @@ -26967,39 +26968,39 @@ id: MONDO:0001657 name: brain cancer def: "A primary or metastatic malignant neoplasm affecting the brain." [NCIT:C3568] subset: otar {source="MONDO:OTAR"} -synonym: "adult brain tumor" NARROW [DOID:1319] +synonym: "adult brain tumor" NARROW [] synonym: "adult brain tumour" NARROW OMO:0003005 [] -synonym: "adult malignant brain neoplasm" NARROW [DOID:1319] -synonym: "brain cancer" EXACT [MONDO:patterns/location, NCIT:C3568] -synonym: "brain neoplasm" BROAD [DOID:1319] -synonym: "brain neoplasm, adult" RELATED [DOID:1319, NCIT:C7710] +synonym: "adult malignant brain neoplasm" NARROW [] +synonym: "brain cancer" EXACT [DOID:1319, MONDO:patterns/location, NCIT:C3568] +synonym: "brain neoplasm" BROAD [] +synonym: "brain neoplasm, adult" RELATED [] synonym: "brain neoplasms, malignant" EXACT [NCIT:C3568] synonym: "brain tumor, adult" RELATED [GARD:0009307] -synonym: "BT - brain tumor" RELATED [DOID:1319] +synonym: "BT - brain tumor" RELATED [] synonym: "BT - brain tumour" RELATED OMO:0003005 [] synonym: "cancer of brain" EXACT [MONDO:patterns/cancer, NCIT:C3568] synonym: "cancer of the brain" EXACT [NCIT:C3568] synonym: "malignant brain neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3568] -synonym: "malignant brain tumor" EXACT [DOID:1319, NCIT:C3568] -synonym: "malignant brain tumour" EXACT OMO:0003005 [] +synonym: "malignant brain tumor" EXACT [NCIT:C3568] +synonym: "malignant brain tumour" EXACT OMO:0003005 [DOID:1319] synonym: "malignant neoplasm of brain" EXACT [MONDO:patterns/cancer, NCIT:C3568] synonym: "malignant neoplasm of the brain" EXACT [NCIT:C3568] -synonym: "malignant primary brain neoplasm" NARROW [DOID:1319, NCIT:C4954] -synonym: "malignant primary brain tumor" NARROW [DOID:1319] +synonym: "malignant primary brain neoplasm" NARROW [] +synonym: "malignant primary brain tumor" NARROW [] synonym: "malignant primary brain tumour" NARROW OMO:0003005 [] -synonym: "malignant tumor of adult brain" NARROW [DOID:1319, NCIT:C5115] +synonym: "malignant tumor of adult brain" NARROW [] synonym: "malignant tumor of brain" EXACT [DOID:1319, NCIT:C3568] synonym: "malignant tumor of the brain" EXACT [NCIT:C3568] synonym: "malignant tumour of adult brain" NARROW OMO:0003005 [] synonym: "malignant tumour of brain" EXACT OMO:0003005 [] synonym: "malignant tumour of the brain" EXACT OMO:0003005 [] -synonym: "neoplasm of brain" RELATED EXCLUDE [DOID:1319] -synonym: "neoplasm of unspecified nature of brain" RELATED [DOID:1319, ICD9CM:239.6] -synonym: "primary brain neoplasm" RELATED [DOID:1319, NCIT:C4952] -synonym: "primary brain tumor" RELATED [DOID:1319] +synonym: "neoplasm of brain" RELATED EXCLUDE [] +synonym: "neoplasm of unspecified nature of brain" RELATED [ICD9CM:239.6] +synonym: "primary brain neoplasm" RELATED [] +synonym: "primary brain tumor" RELATED [] synonym: "primary brain tumour" RELATED OMO:0003005 [] synonym: "primary malignant neoplasm of brain" EXACT [DOID:1319] -synonym: "tumor of the brain" BROAD [DOID:1319, NCIT:C2907] +synonym: "tumor of the brain" BROAD [] synonym: "tumour of the brain" BROAD OMO:0003005 [] xref: CSP:2006-2736 {source="DOID:1319"} xref: DOID:1319 {source="MONDO:equivalentTo"} @@ -27043,12 +27044,12 @@ subset: otar {source="MONDO:OTAR"} synonym: "euthyroid goiter" EXACT [NCIT:C35271] synonym: "euthyroid goitre" EXACT OMO:0003005 [] synonym: "goiter, non-toxic" EXACT [DOID:13195] -synonym: "goiter, non-toxic NOS" RELATED EXCLUDE [DOID:13195] +synonym: "goiter, non-toxic NOS" RELATED EXCLUDE [] synonym: "Nodule-thyroid, non tox" EXACT [DOID:13195] -synonym: "non-toxic goiter" EXACT [DOID:13195, NCIT:C35271] -synonym: "non-toxic goitre" EXACT OMO:0003005 [] -synonym: "non-toxic simple goiter" EXACT [DOID:13195] -synonym: "non-toxic simple goitre" EXACT OMO:0003005 [] +synonym: "non-toxic goiter" EXACT [NCIT:C35271] +synonym: "non-toxic goitre" EXACT OMO:0003005 [DOID:13195] +synonym: "non-toxic simple goiter" EXACT [] +synonym: "non-toxic simple goitre" EXACT OMO:0003005 [DOID:13195] synonym: "nontoxic goiter" EXACT [DOID:13195, NCIT:C35271] xref: DOID:13195 {source="MONDO:equivalentTo"} xref: ICD10CM:E04.0 {source="DOID:13195"} @@ -27076,7 +27077,7 @@ id: MONDO:0001660 name: proliferative diabetic retinopathy def: "Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "PDR" RELATED EXCLUDE [DOID:13207] +synonym: "PDR" RELATED EXCLUDE [] xref: DOID:13207 {source="MONDO:equivalentTo"} xref: EFO:0009322 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:348602398 {source="MONDO:equivalentTo"} @@ -27112,7 +27113,7 @@ id: MONDO:0001662 name: obsolete right bundle branch block synonym: "obsolete right bundle branch block (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "right bundle branch block" EXACT [MONDO:ambiguous] -synonym: "right bundle branch block with left posterior fascicular block" EXACT [DOID:13209] +synonym: "right bundle branch block with left posterior fascicular block" EXACT [] xref: DOID:13209 {source="MONDO:obsoleteEquivalent"} xref: HP:0011712 {source="MONDO:otherHierarchy"} xref: ICD9:426.4 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"} @@ -27146,7 +27147,7 @@ id: MONDO:0001664 name: submucous uterine fibroid subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "submucous leiomyoma of uterus" EXACT [DOID:13222, ICD9CM:218.0] +synonym: "submucous leiomyoma of uterus" EXACT [DOID:13222, ICD10CM:D25.0, ICD9CM:218.0] xref: DOID:13222 {source="MONDO:equivalentTo"} xref: ICD10CM:D25.0 {source="MONDO:equivalentTo", source="DOID:13222"} xref: ICD9:218.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13222"} @@ -27204,7 +27205,7 @@ id: MONDO:0001668 name: internal pathological resorption of tooth synonym: "internal granuloma of pulp" RELATED [] synonym: "internal pathologic resorption" EXACT [] -synonym: "internal pathological resorption" RELATED [DOID:13239] +synonym: "internal pathological resorption" RELATED [] synonym: "internal resorption of crown of tooth" RELATED [] synonym: "internal resorption of tooth" EXACT [] synonym: "pathological tooth resorption - internal" RELATED [] @@ -27241,8 +27242,8 @@ is_a: MONDO:0002220 {source="DOID:13240"} ! tooth hard tissue disease id: MONDO:0001671 name: mucocele of appendix def: "Accumulation of mucus within the appendix." [NCIT:P378] -synonym: "appendiceal mucocele" EXACT [NCIT:C3241] -synonym: "Appendicele mucocele" EXACT [DOID:13248, NCIT:C3241] +synonym: "appendiceal mucocele" EXACT [icd11.foundation:159513245, NCIT:C3241] +synonym: "Appendicele mucocele" EXACT [DOID:13248] synonym: "mucocele of the appendix" EXACT [NCIT:C3241] xref: DOID:13248 {source="MONDO:equivalentTo"} xref: icd11.foundation:159513245 {source="MONDO:equivalentTo"} @@ -27258,13 +27259,13 @@ id: MONDO:0001672 name: bronchus cancer def: "A malignant neoplasm involving the bronchus" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "bronchus cancer" EXACT [MONDO:patterns/location] +synonym: "bronchus cancer" EXACT [DOID:1325, MONDO:patterns/location] synonym: "cancer of bronchus" EXACT [MONDO:patterns/cancer] synonym: "malignant bronchus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of bronchus" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of bronchus and lung" NARROW [DOID:1325] -synonym: "malignant neoplasm of bronchus and lung, unspecified" NARROW [DOID:1325, ICD9CM:162.9] -synonym: "malignant neoplasm of bronchus or lung" RELATED [DOID:1325] +synonym: "malignant neoplasm of bronchus and lung" NARROW [] +synonym: "malignant neoplasm of bronchus and lung, unspecified" NARROW [ICD9CM:162.9] +synonym: "malignant neoplasm of bronchus or lung" RELATED [] xref: DOID:1325 {source="MONDO:equivalentTo"} xref: ICD10CM:C34 {source="DOID:1325"} xref: ICD10CM:C34.9 {source="DOID:1325"} @@ -27286,9 +27287,9 @@ id: MONDO:0001673 name: diarrheal disease def: "The condition of having at least three loose or liquid bowel movements each day." [Wikipedia:Diarrhea] subset: otar {source="MONDO:OTAR"} -synonym: "diarrhea" EXACT [DOID:13250] +synonym: "diarrhea" EXACT [DOID:13250, NCIT:C2987] synonym: "diarrhea of presumed infectious origin" RELATED [DOID:13250] -synonym: "diarrheal disease" EXACT [] +synonym: "diarrheal disease" EXACT [NCIT:C2987] synonym: "diarrheal disorder" EXACT [] synonym: "diarrhoea" EXACT OMO:0003005 [] synonym: "diarrhoea of presumed infectious origin" RELATED OMO:0003005 [] @@ -27349,8 +27350,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:659681"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EPP" RELATED EXCLUDE [DOID:13270] -synonym: "EPP (erythropoietic protoporphyria porphyria)" EXACT [DOID:13270] +synonym: "EPP" RELATED EXCLUDE [] +synonym: "EPP (erythropoietic protoporphyria porphyria)" EXACT [] synonym: "protoporphyria" EXACT [DOID:13270] xref: DOID:13270 {source="MONDO:equivalentTo"} xref: ICD10CM:E80.0 {source="DOID:13270"} @@ -27398,7 +27399,7 @@ relationship: disease_has_feature HP:0002239 ! Gastrointestinal hemorrhage id: MONDO:0001679 name: obsolete crater-like holes of optic disk comment: Obsolete as represents a phenotypic feature/finding (todo: add to HPO) -synonym: "crater-like optic disk holes" EXACT [DOID:13295] +synonym: "crater-like optic disk holes" EXACT [] xref: DOID:13295 {source="MONDO:obsoleteEquivalent"} xref: ICD9:377.22 {source="DOID:13295"} xref: SCTID:19148004 {source="DOID:13295"} @@ -27410,7 +27411,7 @@ id: MONDO:0001680 name: vaginal mullerian papilloma def: "A benign papilloma that arises from the vagina in infants and young women." [NCIT:C40255] synonym: "vaginal Muellerian papilloma" EXACT [DOID:133] -synonym: "vaginal Mullerian papilloma" EXACT [NCIT:C40255] +synonym: "vaginal Mullerian papilloma" EXACT [DOID:133, NCIT:C40255] synonym: "vaginal Müllerian papilloma" EXACT [NCIT:C40255] xref: DOID:133 {source="MONDO:equivalentTo"} xref: MEDGEN:276952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -27465,9 +27466,9 @@ id: MONDO:0001684 name: exocrine pancreatic insufficiency def: "Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders." [NCIT:C84316] subset: otar {source="MONDO:OTAR"} -synonym: "exocrine pancreas insufficiency" RELATED [NCIT:C84316] -synonym: "exocrine pancreatic insufficiency" EXACT [NCIT:C84316] -synonym: "pancreatic insufficiency" RELATED [NCIT:C84316] +synonym: "exocrine pancreas insufficiency" RELATED [] +synonym: "exocrine pancreatic insufficiency" EXACT [DOID:13316, ICD10CM:K86.81, NCIT:C84316] +synonym: "pancreatic insufficiency" RELATED [] xref: DOID:13316 {source="MONDO:equivalentTo"} xref: ICD10CM:K86.81 {source="MONDO:equivalentTo"} xref: ICD9:577.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -27561,9 +27562,9 @@ def: "A malignant neoplasm involving the laryngeal cartilage." [https://orcid.or subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cancer of laryngeal cartilage" EXACT [MONDO:patterns/cancer] -synonym: "laryngeal cartilage cancer" EXACT [MONDO:patterns/location] +synonym: "laryngeal cartilage cancer" EXACT [DOID:13348, MONDO:patterns/location] synonym: "malignant laryngeal cartilage neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of laryngeal cartilage" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of laryngeal cartilage" EXACT [DOID:13348, MONDO:patterns/cancer] synonym: "malignant neoplasm of laryngeal cartilages" EXACT [DOID:13348, ICD9CM:161.3] synonym: "malignant tumor of laryngeal cartilage" EXACT [DOID:13348] synonym: "malignant tumour of laryngeal cartilage" EXACT OMO:0003005 [] @@ -27656,9 +27657,9 @@ is_a: MONDO:0004681 {source="DOID:13365"} ! learning disability id: MONDO:0001698 name: tinea profunda def: "A dermatophytosis that involves the deep dermal layers." [https://www.derm-hokudai.jp/shimizu-dermatology/pdf/25-01.pdf] -synonym: "deep seated dermatophytosis" RELATED [DOID:13368, ICD9CM:110.6] +synonym: "deep seated dermatophytosis" RELATED [ICD9CM:110.6] synonym: "granuloma trichophyticum" EXACT [DOID:13368] -synonym: "Majocchi's granuloma" RELATED [DOID:13368] +synonym: "Majocchi's granuloma" RELATED [] xref: DOID:13368 {source="MONDO:equivalentTo"} xref: MEDGEN:702632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:186995009 {source="DOID:13368"} @@ -27673,7 +27674,7 @@ relationship: excluded_subClassOf MONDO:0001461 {source="DOID:13368", source="ht id: MONDO:0001699 name: tinea manuum def: "A dermatophytosis that involves the hands." [MONDO:patterns/location] -synonym: "dermatophytosis of hand" EXACT [DOID:13369, ICD9CM:110.2] +synonym: "dermatophytosis of hand" EXACT [DOID:13369, ICD10CM:B35.2, ICD9CM:110.2] synonym: "dermatophytosis of manus" EXACT [MONDO:design_pattern] synonym: "manus dermatophytosis" EXACT [MONDO:patterns/location] synonym: "Tinea manus" EXACT [DOID:13369] @@ -27698,14 +27699,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Grasbeck-Imerslund syndrome" EXACT [DOID:13382] synonym: "IGS" RELATED ABBREVIATION [DOID:13382] -synonym: "Imerslund-Grasbeck syndrome" RELATED EXCLUDE [DOID:13382] +synonym: "Imerslund-Grasbeck syndrome" RELATED EXCLUDE [] synonym: "megaloblastic anaemia (disease)" EXACT OMO:0003005 [] -synonym: "megaloblastic anemia" EXACT [MONDO:ambiguous] +synonym: "megaloblastic anemia" EXACT [DOID:13382, MONDO:ambiguous, NCIT:C34382] synonym: "megaloblastic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "MGA1 Norwegian type" EXACT [DOID:13382] -synonym: "recessive hereditary megaloblastic anaemia 1" EXACT OMO:0003005 [] +synonym: "recessive hereditary megaloblastic anaemia 1" EXACT OMO:0003005 [DOID:13382] synonym: "recessive hereditary megaloblastic anemia 1" EXACT [DOID:13382] -synonym: "RH-MGA1" EXACT [DOID:13382] +synonym: "RH-MGA1" EXACT ABBREVIATION [DOID:13382] xref: DOID:13382 {source="MONDO:equivalentTo"} xref: HP:0001889 {source="MONDO:otherHierarchy"} xref: ICD10CM:D53.1 {source="DOID:13382"} @@ -27751,11 +27752,11 @@ name: labia majora carcinoma def: "A carcinoma that arises from the labia majora." [NCIT:C9363] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "carcinoma of labia majora" EXACT [DOID:13389, NCIT:C9363] +synonym: "carcinoma of labia majora" EXACT [NCIT:C9363] synonym: "carcinoma of labium majora" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the labia majora" EXACT [NCIT:C9363] synonym: "labia majora cancer" EXACT [DOID:13389, NCIT:C9363] -synonym: "labia majora carcinoma" EXACT [NCIT:C9363] +synonym: "labia majora carcinoma" EXACT [DOID:13389, NCIT:C9363] synonym: "labium majora carcinoma" EXACT [] xref: DOID:13389 {source="MONDO:equivalentTo"} xref: MEDGEN:235247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -27776,13 +27777,13 @@ subset: ordo_group_of_disorders {source="Orphanet:98658"} subset: otar {source="MONDO:OTAR"} synonym: "blindness color" EXACT [DOID:13399, MTH:NOCODE] synonym: "blindness colour" EXACT OMO:0003005 [] -synonym: "color blindness" EXACT [DOID:13399] +synonym: "color blindness" EXACT [DOID:13399, NCIT:C3891] synonym: "color vision defects" EXACT [NCIT:C3891] -synonym: "color vision deficiency" EXACT [DOID:13399, NCIT:C3891] -synonym: "color-vision disease" EXACT [MONDO:0020239] -synonym: "colour blindness" EXACT OMO:0003005 [] +synonym: "color vision deficiency" EXACT [NCIT:C3891] +synonym: "color-vision disease" EXACT [MONDO:0020239, Orphanet:98658] +synonym: "colour blindness" EXACT OMO:0003005 [DOID:13399] synonym: "colour vision defects" EXACT OMO:0003005 [] -synonym: "colour vision deficiency" EXACT OMO:0003005 [] +synonym: "colour vision deficiency" EXACT OMO:0003005 [DOID:13399] xref: DOID:13399 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.5 {source="Orphanet:98658", source="DOID:13399", source="Orphanet:98658/attributed", source="Orphanet:98658/ntbt"} xref: ICD10CM:H53.50 {source="DOID:13399"} @@ -27808,7 +27809,7 @@ name: vaginal glandular neoplasm def: "A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma." [NCIT:C40250] synonym: "vagina glandular cell neoplasm" EXACT [MONDO:patterns/location] synonym: "vaginal glandular neoplasm" EXACT [NCIT:C40250] -synonym: "vaginal glandular tumor" EXACT [NCIT:C40250] +synonym: "vaginal glandular tumor" EXACT [DOID:134, NCIT:C40250] synonym: "vaginal glandular tumour" EXACT OMO:0003005 [] xref: DOID:134 {source="MONDO:equivalentTo"} xref: MEDGEN:275574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -27964,7 +27965,7 @@ id: MONDO:0001712 name: alexia def: "A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases." [MESH:D004411] synonym: "acquired alexia" RELATED [MESH:D004411] -synonym: "acquired dyslexia" RELATED [DOID:13417, MESH:D004411] +synonym: "acquired dyslexia" RELATED [MESH:D004411] synonym: "acquired global dyslexia" RELATED [MESH:D004411] synonym: "acquired reading disabilities" RELATED [MESH:D004411] synonym: "acquired reading disability" RELATED [MESH:D004411] @@ -28016,15 +28017,15 @@ subset: rare synonym: "congenital aplastic anaemia" RELATED OMO:0003005 [] synonym: "congenital aplastic anemia" RELATED [] synonym: "congenital hypoplastic anaemia" RELATED OMO:0003005 [] -synonym: "congenital hypoplastic anemia" RELATED [DOID:1342] +synonym: "congenital hypoplastic anemia" RELATED [] synonym: "constitutional aplastic anaemia" EXACT OMO:0003005 [] -synonym: "constitutional aplastic anemia" EXACT [DOID:1342] +synonym: "constitutional aplastic anemia" EXACT [ICD10CM:D61.0] synonym: "hereditary aplastic anaemia" EXACT OMO:0003005 [] synonym: "hereditary aplastic anemia" EXACT [MONDO:patterns/hereditary] synonym: "hypoplastic anaemia - familial" RELATED OMO:0003005 [] synonym: "hypoplastic anemia - familial" RELATED [] synonym: "rare constitutional aplastic anaemia" NARROW OMO:0003005 [] -synonym: "rare constitutional aplastic anemia" NARROW [Orphanet:68383] +synonym: "rare constitutional aplastic anemia" NARROW [] xref: DOID:1342 {source="MONDO:equivalentTo"} xref: GARD:18889 {source="MONDO:GARD"} xref: ICD10CM:D61.0 {source="DOID:1342", source="MONDO:equivalentTo", source="Orphanet:68383", source="Orphanet:68383/attributed", source="Orphanet:68383/ntbt"} @@ -28129,7 +28130,7 @@ id: MONDO:0001718 name: scleritis def: "Inflammation of the sclera." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "scleritis" EXACT [MONDO:ambiguous] +synonym: "scleritis" EXACT [DOID:13452, icd11.foundation:2097802831, MONDO:ambiguous, NCIT:C119046] synonym: "scleritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:13452 {source="MONDO:equivalentTo"} xref: HP:0100532 {source="MONDO:otherHierarchy"} @@ -28229,9 +28230,9 @@ def: "A malignant neoplasm that affects the supraglottic area of the larynx. The subset: otar {source="MONDO:OTAR"} synonym: "Ca larynx - supraglottis" EXACT [DOID:13476] synonym: "cancer of supraglottic part of larynx" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of extrinsic larynx" EXACT [DOID:13476] +synonym: "malignant neoplasm of extrinsic larynx" EXACT [DOID:13476, ICD10CM:C32.1] synonym: "malignant neoplasm of supraglottic part of larynx" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of supraglottis" EXACT [DOID:13476, ICD9CM:161.1, NCIT:C3545] +synonym: "malignant neoplasm of supraglottis" EXACT [DOID:13476, ICD10CM:C32.1, ICD9CM:161.1, NCIT:C3545] synonym: "malignant neoplasm of the supraglottis" EXACT [NCIT:C3545] synonym: "malignant supraglottic neoplasm" EXACT [NCIT:C3545] synonym: "malignant supraglottic part of larynx neoplasm" EXACT [MONDO:patterns/cancer] @@ -28240,7 +28241,7 @@ synonym: "malignant supraglottic tumour" EXACT OMO:0003005 [] synonym: "malignant supraglottis neoplasm" EXACT [NCIT:C3545] synonym: "malignant supraglottis tumor" EXACT [NCIT:C3545] synonym: "malignant supraglottis tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of supraglottis" EXACT [NCIT:C3545] +synonym: "malignant tumor of supraglottis" EXACT [DOID:13476, NCIT:C3545] synonym: "malignant tumor of the supraglottis" EXACT [NCIT:C3545] synonym: "malignant tumour of supraglottis" EXACT OMO:0003005 [] synonym: "malignant tumour of the supraglottis" EXACT OMO:0003005 [] @@ -28295,7 +28296,7 @@ name: active cochleovestibular Meniere disease subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "active cochleovestibular Meniere disease" EXACT [DOID:13490] -synonym: "active cochleovestibular Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "active cochleovestibular Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:13490, MONDO:LexicalVariant] synonym: "active Meniere's disease, cochleovestibular" EXACT [DOID:13490, ICD9CM:386.01] synonym: "cochleovestibular active Mnire's disease" EXACT [DOID:13490] xref: DOID:13490 {source="MONDO:equivalentTo"} @@ -28313,7 +28314,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "active Meniere's disease, vestibular" EXACT [DOID:13491, ICD9CM:386.03] synonym: "active vestibular Meniere disease" EXACT [DOID:13491] -synonym: "active vestibular Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "active vestibular Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:13491, MONDO:LexicalVariant] synonym: "vestibular active Mnire's disease" EXACT [DOID:13491] xref: DOID:13491 {source="MONDO:equivalentTo"} xref: ICD9:386.03 {source="DOID:13491", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -28329,7 +28330,7 @@ name: active cochlear Meniere disease subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "active cochlear Meniere disease" EXACT [DOID:13492] -synonym: "active cochlear Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "active cochlear Meniere's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:13492, MONDO:LexicalVariant] synonym: "active Meniere's disease, cochlear" EXACT [DOID:13492, ICD9CM:386.02] synonym: "cochlear active Mnire's disease" EXACT [DOID:13492] xref: DOID:13492 {source="MONDO:equivalentTo"} @@ -28359,7 +28360,7 @@ is_a: MONDO:0004184 {source="DOID:13498"} ! urethral disorder id: MONDO:0001731 name: benign vaginal mixed epithelial and mesenchymal neoplasm def: "A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements." [NCIT:C40275] -synonym: "benign vaginal carcinosarcoma" RELATED [DOID:135] +synonym: "benign vaginal carcinosarcoma" RELATED [] synonym: "benign vaginal mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40275] synonym: "benign vaginal mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40275] synonym: "benign vaginal mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 [] @@ -28418,17 +28419,17 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenoma sebaceum" RELATED DEPRECATED [MESH:D014402] synonym: "adenoma sebaceum syndrome" RELATED DEPRECATED [] -synonym: "Bourneville disease" EXACT [MESH:D014402] +synonym: "Bourneville disease" EXACT [icd11.foundation:1903085809, MESH:D014402] synonym: "Bourneville syndrome" EXACT [MESH:D014402, Orphanet:805] synonym: "Bourneville's disease" EXACT [DOID:13515, NCIT:C3424] synonym: "Bourneville's syndrome" EXACT [GARD:0000946, MESH:D014402] synonym: "cerebral sclerosis" EXACT DEPRECATED [DOID:13515] -synonym: "epiloia" EXACT [DOID:13515, MESH:D014402] +synonym: "epiloia" EXACT [DOID:13515, icd11.foundation:1903085809, MESH:D014402] synonym: "TSC" EXACT ABBREVIATION [NCIT:C3424] synonym: "tuberose sclerosis" EXACT [DOID:13515] -synonym: "tuberous sclerosis" EXACT CLINGEN_LABEL [DOID:13515, ICD9CM:759.5, Orphanet:805] -synonym: "tuberous sclerosis complex" EXACT [MONDO:0019341] -synonym: "tuberous sclerosis syndrome" EXACT [NCIT:C3424] +synonym: "tuberous sclerosis" EXACT CLINGEN_LABEL [DOID:13515, icd11.foundation:1903085809, ICD9CM:759.5, NCIT:C3424, OMIMPS:191100, Orphanet:805] +synonym: "tuberous sclerosis complex" EXACT [MONDO:0019341, NCIT:C3424, Orphanet:805] +synonym: "tuberous sclerosis syndrome" EXACT [DOID:13515, NCIT:C3424] xref: DOID:13515 {source="MONDO:equivalentTo"} xref: GARD:7830 {source="MONDO:GARD"} xref: ICD10CM:Q85.1 {source="DOID:13515", source="Orphanet:805/specific", source="Orphanet:805", source="Orphanet:805/e"} @@ -28469,10 +28470,10 @@ synonym: "disease of paranasal sinus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of paranasal sinus" EXACT [] synonym: "disorder of nasal sinus" EXACT [DOID:1352] synonym: "disorder of paranasal sinus" EXACT [MONDO:patterns/location_top] -synonym: "paranasal sinus disease" EXACT [MONDO:patterns/location, NCIT:C26843] +synonym: "paranasal sinus disease" EXACT [DOID:1352, MONDO:patterns/location, NCIT:C26843] synonym: "paranasal sinus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "paranasal sinus disorder" EXACT [NCIT:C26843] -synonym: "sinus disorder" EXACT [NCIT:C26843] +synonym: "sinus disorder" EXACT [] xref: DOID:1352 {source="MONDO:equivalentTo"} xref: EFO:0009481 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:478.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -28503,7 +28504,7 @@ name: tetanus neonatorum def: "A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "neonatal tetanus" EXACT [DOID:13521] +synonym: "neonatal tetanus" EXACT [DOID:13521, NCIT:C116814] xref: DOID:13521 {source="MONDO:equivalentTo"} xref: ICD10CM:A33 {source="MONDO:equivalentTo", source="DOID:13521"} xref: icd11.foundation:2085616610 {source="MONDO:equivalentTo"} @@ -28528,7 +28529,7 @@ name: purulent labyrinthitis def: "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma." [DOID:13534, http://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh] synonym: "acute suppurative labyrinthitis" RELATED [DOID:13534] synonym: "bacterial labyrinthitis" EXACT [DOID:13534] -synonym: "suppurative labyrinthitis" EXACT [DOID:13534, ICD9CM:386.33] +synonym: "suppurative labyrinthitis" EXACT [DOID:13534, icd11.foundation:479586656, ICD9CM:386.33] xref: DOID:13534 {source="MONDO:equivalentTo"} xref: icd11.foundation:479586656 {source="MONDO:equivalentTo"} xref: ICD9:386.33 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13534"} @@ -28544,12 +28545,12 @@ def: "A rare squamous cell carcinoma that arises from the cornea." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cornea epidermoid carcinoma" EXACT [NCIT:C4552] -synonym: "cornea squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4552] +synonym: "cornea squamous cell carcinoma" EXACT [DOID:13538, MONDO:patterns/location, NCIT:C4552] synonym: "corneal epidermoid carcinoma" EXACT [DOID:13538, NCIT:C4552] synonym: "corneal squamous cell carcinoma" EXACT [NCIT:C4552] synonym: "epidermoid carcinoma of cornea" EXACT [NCIT:C4552] synonym: "epidermoid carcinoma of the cornea" EXACT [NCIT:C4552] -synonym: "squamous cell carcinoma of cornea" EXACT [DOID:13538, NCIT:C4552] +synonym: "squamous cell carcinoma of cornea" EXACT [NCIT:C4552] synonym: "squamous cell carcinoma of the cornea" EXACT [NCIT:C4552] xref: DOID:13538 {source="MONDO:equivalentTo"} xref: MEDGEN:91102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -28568,7 +28569,7 @@ id: MONDO:0001741 name: hyperparathyroidism def: "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes." [NCIT:C48259] subset: otar {source="MONDO:OTAR"} -synonym: "hyperparathyroidism" EXACT [NCIT:C48259] +synonym: "hyperparathyroidism" EXACT [DOID:13543, icd11.foundation:9633776, NCIT:C48259] xref: DOID:13543 {source="MONDO:equivalentTo"} xref: EFO:0008506 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E21.3 {source="DOID:13543"} @@ -28611,10 +28612,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "accessory sinus lymphoma" EXACT [NCIT:C6068] synonym: "lymphoma of accessory sinus" EXACT [DOID:1355, NCIT:C6068] -synonym: "lymphoma of paranasal sinus" EXACT [DOID:1355] +synonym: "lymphoma of paranasal sinus" EXACT [DOID:1355, NCIT:C6068] synonym: "lymphoma of the accessory sinus" EXACT [NCIT:C6068] synonym: "lymphoma of the paranasal sinus" EXACT [NCIT:C6068] -synonym: "paranasal sinus lymphoma" EXACT [MONDO:patterns/location] +synonym: "paranasal sinus lymphoma" EXACT [DOID:1355, MONDO:patterns/location, NCIT:C6068] synonym: "primary paranasal sinus lymphoma" EXACT [NCIT:C6068] xref: DOID:1355 {source="MONDO:equivalentTo"} xref: MEDGEN:277498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -28632,8 +28633,8 @@ name: angle-closure glaucoma def: "The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity." [NCIT:C34639] subset: otar {source="MONDO:OTAR"} synonym: "ACG - angle-closure glaucoma" EXACT [DOID:13550] -synonym: "angle closure glaucoma" EXACT [DOID:13550, MTH:NOCODE, NCIT:C34639] -synonym: "closed angle glaucoma" RELATED EXCLUDE [DOID:13550] +synonym: "angle closure glaucoma" EXACT [DOID:13550, MTH:NOCODE] +synonym: "closed angle glaucoma" RELATED EXCLUDE [] synonym: "Narrow cleft glaucoma" EXACT [DOID:13550] synonym: "primary open-angle glaucoma with narrow angles" EXACT [DOID:13550] xref: DOID:13550 {source="MONDO:equivalentTo"} @@ -28665,8 +28666,8 @@ is_a: MONDO:0007886 {source="DOID:13560"} ! uterine corpus leiomyoma id: MONDO:0001746 name: optic disk drusen def: "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)" [MESH:D015594] -synonym: "drusen of optic disc" EXACT OMO:0003005 [] -synonym: "drusen of optic disk" EXACT [DOID:13561, ICD9CM:377.21] +synonym: "drusen of optic disc" EXACT OMO:0003005 [DOID:13561] +synonym: "drusen of optic disk" EXACT [ICD9CM:377.21] synonym: "optic nerve head drusen" EXACT [DOID:13561] xref: DOID:13561 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.32 {source="DOID:13561"} @@ -28707,7 +28708,7 @@ synonym: "malignant tumor of maxillary sinus" EXACT [NCIT:C3540] synonym: "malignant tumor of the maxillary sinus" EXACT [DOID:1357, NCIT:C3540] synonym: "malignant tumour of maxillary sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of the maxillary sinus" EXACT OMO:0003005 [] -synonym: "maxillary sinus cancer" EXACT [MONDO:patterns/location, NCIT:C9332] +synonym: "maxillary sinus cancer" EXACT [DOID:1357, MONDO:patterns/location, NCIT:C9332] synonym: "maxillary sinus carcinoma" EXACT [NCIT:C9332] xref: DOID:1357 {source="MONDO:equivalentTo"} xref: ICD10CM:C31.0 {source="DOID:1357"} @@ -28848,13 +28849,13 @@ def: "A malignant neoplasm involving the frontal sinus." [https://orcid.org/0000 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cancer of frontal sinus" EXACT [MONDO:patterns/cancer] -synonym: "frontal sinus cancer" EXACT [MONDO:patterns/location] -synonym: "malignant frontal sinus neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "frontal sinus cancer" EXACT [DOID:1360, MONDO:patterns/location] +synonym: "malignant frontal sinus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3542] synonym: "malignant frontal sinus tumor" EXACT [NCIT:C3542] synonym: "malignant frontal sinus tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of frontal sinus" EXACT [DOID:1360, ICD9CM:160.4, MONDO:patterns/cancer, MTH:U001261] +synonym: "malignant neoplasm of frontal sinus" EXACT [DOID:1360, ICD10CM:C31.2, ICD9CM:160.4, MONDO:patterns/cancer, MTH:U001261, NCIT:C3542] synonym: "malignant neoplasm of the frontal sinus" EXACT [NCIT:C3542] -synonym: "malignant tumor of frontal sinus" EXACT [NCIT:C3542] +synonym: "malignant tumor of frontal sinus" EXACT [DOID:1360, NCIT:C3542] synonym: "malignant tumor of the frontal sinus" EXACT [DOID:1360, NCIT:C3542] synonym: "malignant tumour of frontal sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of the frontal sinus" EXACT OMO:0003005 [] @@ -28881,7 +28882,7 @@ subset: rare synonym: "frontal sinus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "frontal sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4419] synonym: "frontal sinus tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of frontal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4419] +synonym: "neoplasm of frontal sinus" EXACT [DOID:1361, MONDO:patterns/neoplasm, NCIT:C4419] synonym: "neoplasm of the frontal sinus" EXACT [NCIT:C4419] synonym: "tumor of frontal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4419] synonym: "tumor of the frontal sinus" EXACT [DOID:1361, NCIT:C4419] @@ -28903,7 +28904,7 @@ def: "A malignant soft tissue neoplasm that arises from the paranasal sinus." [N subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "accessory sinus sarcoma" EXACT [NCIT:C6849] -synonym: "paranasal sinus sarcoma" EXACT [MONDO:patterns/location, NCIT:C6849] +synonym: "paranasal sinus sarcoma" EXACT [DOID:1362, MONDO:patterns/location, NCIT:C6849] synonym: "sarcoma of accessory sinus" EXACT [DOID:1362, NCIT:C6849] synonym: "sarcoma of paranasal sinus" EXACT [MONDO:patterns/sarcoma, NCIT:C6849] synonym: "sarcoma of the accessory sinus" EXACT [NCIT:C6849] @@ -28983,18 +28984,18 @@ def: "A malignant neoplasm involving the ethmoid sinus." [https://orcid.org/0000 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cancer of ethmoid sinus" EXACT [MONDO:patterns/cancer] -synonym: "ethmoid sinus cancer" EXACT [MONDO:patterns/location] -synonym: "malignant ethmoid sinus neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "ethmoid sinus cancer" EXACT [DOID:1363, MONDO:patterns/location] +synonym: "malignant ethmoid sinus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3541] synonym: "malignant ethmoid sinus tumor" EXACT [NCIT:C3541] synonym: "malignant ethmoid sinus tumour" EXACT OMO:0003005 [] synonym: "malignant ethmoidal sinus neoplasm" EXACT [NCIT:C3541] synonym: "malignant ethmoidal sinus tumor" EXACT [NCIT:C3541] synonym: "malignant ethmoidal sinus tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of ethmoid sinus" EXACT [MONDO:patterns/cancer, NCIT:C3541] -synonym: "malignant neoplasm of ethmoidal sinus" EXACT [DOID:1363, ICD9CM:160.3] +synonym: "malignant neoplasm of ethmoidal sinus" EXACT [DOID:1363, ICD10CM:C31.1, ICD9CM:160.3, NCIT:C3541] synonym: "malignant neoplasm of the ethmoid sinus" EXACT [NCIT:C3541] synonym: "malignant neoplasm of the ethmoidal sinus" EXACT [NCIT:C3541] -synonym: "malignant tumor of ethmoid sinus" EXACT [NCIT:C3541] +synonym: "malignant tumor of ethmoid sinus" EXACT [DOID:1363, NCIT:C3541] synonym: "malignant tumor of ethmoidal sinus" EXACT [DOID:1363, NCIT:C3541] synonym: "malignant tumor of the ethmoid sinus" EXACT [NCIT:C3541] synonym: "malignant tumor of the ethmoidal sinus" EXACT [NCIT:C3541] @@ -29030,7 +29031,7 @@ synonym: "ethmoidal sinus neoplasm" EXACT [NCIT:C4416] synonym: "ethmoidal sinus tumor" EXACT [NCIT:C4416] synonym: "ethmoidal sinus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of ethmoid sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4416] -synonym: "neoplasm of ethmoidal sinus" EXACT [NCIT:C4416] +synonym: "neoplasm of ethmoidal sinus" EXACT [DOID:1364, NCIT:C4416] synonym: "neoplasm of the ethmoid sinus" EXACT [NCIT:C4416] synonym: "neoplasm of the ethmoidal sinus" EXACT [NCIT:C4416] synonym: "tumor of ethmoid sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C4416] @@ -29210,12 +29211,12 @@ is_a: MONDO:0002688 {source="DOID:13687"} ! duodenal obstruction id: MONDO:0001776 name: prostate calculus def: "A concretion in the prostate." [NCIT:P378] -synonym: "calculus of prostate" EXACT [DOID:13689, ICD9CM:602.0] +synonym: "calculus of prostate" EXACT [DOID:13689, ICD10CM:N42.0, ICD9CM:602.0] synonym: "lower urinary tract calculus of prostate gland" EXACT [MONDO:design_pattern] synonym: "prostate gland lower urinary tract calculus" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "prostatic lithiasis" EXACT [DOID:13689] -synonym: "prostatic stone" EXACT [DOID:13689] -synonym: "Stone of prostate" EXACT [DOID:13689, NCIT:C26936] +synonym: "prostatic stone" EXACT [DOID:13689, ICD10CM:N42.0] +synonym: "Stone of prostate" EXACT [DOID:13689] xref: DOID:13689 {source="MONDO:equivalentTo"} xref: ICD10CM:N42.0 {source="DOID:13689", source="MONDO:equivalentTo"} xref: ICD9:602.0 {source="DOID:13689", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -29236,8 +29237,8 @@ name: acute gonococcal cystitis def: "Acute form of gonococcal cystitis." [MONDO:patterns/acute] synonym: "acute gonorrhea of bladder" EXACT [DOID:13690] synonym: "acute gonorrhoea of bladder" EXACT OMO:0003005 [] -synonym: "gonococcal cystitis" RELATED EXCLUDE [DOID:13690] -synonym: "gonococcal cystitis (acute)" EXACT [DOID:13690, ICD9CM:098.11] +synonym: "gonococcal cystitis" RELATED EXCLUDE [] +synonym: "gonococcal cystitis (acute)" EXACT [ICD9CM:098.11] synonym: "gonococcal cystitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:13690 {source="MONDO:equivalentTo"} xref: ICD9:098.11 {source="MONDO:equivalentTo", source="DOID:13690", source="MONDO:i2s"} @@ -29260,7 +29261,7 @@ subset: rare synonym: "cutaneous dermoid cyst" EXACT [NCIT:C4632] synonym: "cystic skin teratoma" EXACT [NCIT:C4632] synonym: "dermoid cyst of skin" EXACT [DOID:13691, NCIT:C4632] -synonym: "dermoid cyst of skin (finding)" EXACT [DOID:13691] +synonym: "dermoid cyst of skin (finding)" EXACT [] synonym: "dermoid cyst of the skin" EXACT [NCIT:C4632] synonym: "skin dermoid" EXACT [DOID:13691, NCIT:C4632] synonym: "skin dermoid cyst" EXACT [NCIT:C4632] @@ -29286,7 +29287,7 @@ def: "A benign papillary neoplasm that arises from the vagina and is characteriz synonym: "squamous papilloma of the vagina" EXACT [NCIT:C6374] synonym: "squamous papilloma of vagina" EXACT [DOID:137, NCIT:C6374] synonym: "vagina squamous papilloma" EXACT [MONDO:patterns/location] -synonym: "vaginal squamous papilloma" EXACT [NCIT:C6374] +synonym: "vaginal squamous papilloma" EXACT [DOID:137, NCIT:C6374] xref: DOID:137 {source="MONDO:equivalentTo"} xref: MEDGEN:234983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6374 {source="DOID:137", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -29302,7 +29303,7 @@ id: MONDO:0001780 name: premature ejaculation def: "A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "premature ejaculation" EXACT [MONDO:ambiguous] +synonym: "premature ejaculation" EXACT [DOID:13709, ICD10CM:F52.4, MONDO:ambiguous, NCIT:C94349] synonym: "premature ejaculation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:13709 {source="MONDO:equivalentTo"} xref: HP:0012876 {source="MONDO:otherHierarchy"} @@ -29327,8 +29328,8 @@ name: uterine corpus adenomatoid tumor def: "A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures." [NCIT:C27250] synonym: "body of uterus adenomatoid tumor" EXACT [MONDO:patterns/location] synonym: "body of uterus adenomatoid tumour" EXACT OMO:0003005 [] -synonym: "uterine corpus adenomatoid tumor" EXACT [NCIT:C27250] -synonym: "uterine corpus localised epithelial mesothelioma" EXACT OMO:0003005 [] +synonym: "uterine corpus adenomatoid tumor" EXACT [DOID:1371, NCIT:C27250] +synonym: "uterine corpus localised epithelial mesothelioma" EXACT OMO:0003005 [DOID:1371] synonym: "uterine corpus localized epithelial mesothelioma" EXACT [DOID:1371, NCIT:C27250] xref: DOID:1371 {source="MONDO:equivalentTo"} xref: MEDGEN:234464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -29454,7 +29455,7 @@ name: neurofibroma of spinal cord def: "A neurofibroma that arises from the spinal cord." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "neurofibroma of spinal cord" EXACT [NCIT:C5145] +synonym: "neurofibroma of spinal cord" EXACT [DOID:13742, NCIT:C5145] synonym: "spinal cord neurofibroma" EXACT [MONDO:patterns/location, NCIT:C5145] xref: DOID:13742 {source="MONDO:equivalentTo"} xref: MEDGEN:234804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -29472,8 +29473,8 @@ def: "A benign adipose tissue neoplasm of the spinal cord. It is usually associa subset: gard_rare {source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:645276"} subset: rare -synonym: "lipoma of spinal cord" EXACT [NCIT:C4619] -synonym: "spinal cord lipoma" EXACT [MONDO:patterns/location, NCIT:C4619] +synonym: "lipoma of spinal cord" EXACT [DOID:13743, NCIT:C4619] +synonym: "spinal cord lipoma" EXACT [DOID:13743, MONDO:patterns/location, NCIT:C4619, Orphanet:645276] xref: DOID:13743 {source="MONDO:equivalentTo"} xref: ICD9:214.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:91131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -29548,15 +29549,15 @@ name: Pthirus pubis infestation def: "Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects." [NCIT:P378] synonym: "crabs" EXACT [DOID:13760] synonym: "infections, Pthirus pubis" RELATED [MONDO:patterns/infectious_disease_by_agent] -synonym: "infestation by Phthirus pubis" EXACT [DOID:13760] +synonym: "infestation by Phthirus pubis" EXACT [DOID:13760, ICD10CM:B85.3] synonym: "pediculosis pubis" EXACT [DOID:13760, NCIT:C35777] synonym: "Pediculus pubis" EXACT [DOID:13760] -synonym: "phthiriasis" EXACT [NCIT:C35777] +synonym: "phthiriasis" EXACT [ICD10CM:B85.3, NCIT:C35777] synonym: "phthiriasis pubis" EXACT [DOID:13760] synonym: "Phthirus pubis" EXACT [DOID:13760] -synonym: "Phthirus pubis [pubic louse]" EXACT [DOID:13760, ICD9CM:132.2] +synonym: "Phthirus pubis [pubic louse]" EXACT [ICD9CM:132.2] synonym: "Phthirus/pediculus pubis - pubic lice - crabs" EXACT [DOID:13760] -synonym: "Phthirus/pediculus pubis - pubic lice - crabs (& infestation)" EXACT [DOID:13760] +synonym: "Phthirus/pediculus pubis - pubic lice - crabs (& infestation)" EXACT [] synonym: "Pthirus pubis infection" EXACT [MONDO:patterns/infectious_disease_by_agent] xref: DOID:13760 {source="MONDO:equivalentTo"} xref: ICD10CM:B85.3 {source="MONDO:equivalentTo", source="DOID:13760"} @@ -29579,8 +29580,8 @@ id: MONDO:0001795 name: plantar wart def: "A wart in the plantar surface of the foot. It is caused by human papillomavirus." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "plantar wart" EXACT [DOID:13775, MTH:587] -synonym: "verruca plantaris" EXACT [DOID:13775, NCIT:C26913] +synonym: "plantar wart" EXACT [DOID:13775, ICD10CM:B07.0, MTH:587, NCIT:C26913] +synonym: "verruca plantaris" EXACT [DOID:13775, ICD10CM:B07.0, NCIT:C26913] xref: DOID:13775 {source="MONDO:equivalentTo"} xref: EFO:1002023 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B07.0 {source="MONDO:equivalentTo", source="DOID:13775"} @@ -29649,7 +29650,7 @@ is_a: MONDO:0006816 {source="DOID:13781"} ! arthropathy [Term] id: MONDO:0001799 name: localized anterior staphyloma -synonym: "anterior staphyloma, localised" EXACT OMO:0003005 [] +synonym: "anterior staphyloma, localised" EXACT OMO:0003005 [DOID:13787] synonym: "anterior staphyloma, localized" EXACT [DOID:13787, ICD9CM:379.14] xref: DOID:13787 {source="MONDO:equivalentTo"} xref: ICD10CM:H15.82 {source="DOID:13787"} @@ -29746,7 +29747,7 @@ name: vaginal squamous tumor def: "A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma." [NCIT:P378] synonym: "vagina squamous cell neoplasm" EXACT [MONDO:patterns/location] synonym: "vaginal squamous neoplasm" EXACT [NCIT:C40242] -synonym: "vaginal squamous tumor" EXACT [NCIT:C40242] +synonym: "vaginal squamous tumor" EXACT [DOID:138, NCIT:C40242] xref: DOID:138 {source="MONDO:equivalentTo"} xref: MEDGEN:274381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40242 {source="DOID:138", source="MONDO:equivalentTo"} @@ -29761,15 +29762,15 @@ id: MONDO:0001807 name: obsolete familial combined hyperlipidemia def: "OBSOLETE. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1." [MESH:D006950] comment: Obsolete in Orphanet -synonym: "combined hyperlipidemia" RELATED [Orphanet:79211] -synonym: "combined hyperlipoproteinemia" EXACT [Orphanet:79211] -synonym: "familial combined hyperlipidemia (disorder) [ambiguous]" EXACT [DOID:13809] -synonym: "familial multiple lipoprotein-type hyperlipidemia" EXACT [DOID:13809] -synonym: "hyperbetalipoproteinemia with prebetalipoproteinemia" EXACT [DOID:13809] -synonym: "mixed hyperlipidaemia" EXACT [DOID:13809] -synonym: "mixed hyperlipidemia" EXACT [DOID:13809, ICD9CM:272.2, NCIT:C34821, Orphanet:79211] -synonym: "mixed hyperlipoproteinemia" EXACT [Orphanet:79211] -synonym: "type IIb hyperlipoproteinemia" NARROW [DOID:13809, NCIT:C34708] +synonym: "combined hyperlipidemia" RELATED [] +synonym: "combined hyperlipoproteinemia" EXACT [] +synonym: "familial combined hyperlipidemia (disorder) [ambiguous]" EXACT [] +synonym: "familial multiple lipoprotein-type hyperlipidemia" EXACT [] +synonym: "hyperbetalipoproteinemia with prebetalipoproteinemia" EXACT [] +synonym: "mixed hyperlipidaemia" EXACT [] +synonym: "mixed hyperlipidemia" EXACT [ICD9CM:272.2] +synonym: "mixed hyperlipoproteinemia" EXACT [] +synonym: "type IIb hyperlipoproteinemia" NARROW [] xref: DOID:13809 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E78.2 {source="Orphanet:79211/specific", source="Orphanet:79211/e", source="Orphanet:79211"} xref: ICD10CM:E78.4 {source="DOID:13809"} @@ -29800,8 +29801,8 @@ is_a: MONDO:0002654 {source="DOID:13811"} ! uterine disorder id: MONDO:0001809 name: adhesions of uterus synonym: "band of uterus" EXACT [DOID:13812] -synonym: "intrauterine adhesions" RELATED EXCLUDE [DOID:13812] -synonym: "intrauterine synechiae" RELATED [DOID:13812, ICD9CM:621.5] +synonym: "intrauterine adhesions" RELATED EXCLUDE [] +synonym: "intrauterine synechiae" RELATED [ICD9CM:621.5] xref: DOID:13812 {source="MONDO:equivalentTo"} xref: ICD9:621.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:537073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -29820,10 +29821,10 @@ synonym: "disease of hypoglossal nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of hypoglossal nerve" EXACT [] synonym: "disorder of 12th nerve" EXACT [DOID:13814] synonym: "disorder of hypoglossal [12th] nerve" EXACT [DOID:13814, ICD9CM:352.5] -synonym: "disorder of hypoglossal nerve" EXACT [MONDO:patterns/location_top] +synonym: "disorder of hypoglossal nerve" EXACT [DOID:13814, MONDO:patterns/location_top] synonym: "disorder of the XII nerve" EXACT [NCIT:C26954] synonym: "disorder of XII nerve" EXACT [DOID:13814, NCIT:C26954] -synonym: "hypoglossal nerve disease" EXACT [MONDO:patterns/location] +synonym: "hypoglossal nerve disease" EXACT [DOID:13814, MONDO:patterns/location] synonym: "hypoglossal nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "hypoglossal nerve disorder" EXACT [NCIT:C26954] synonym: "twelfth nerve disorder" EXACT [NCIT:C26954] @@ -29844,7 +29845,7 @@ relationship: excluded_subClassOf MONDO:0002639 {source="DOID:13814", source="ht id: MONDO:0001811 name: tetanic cataract def: "A cataract resulting from hypocalcemia." [NCIT:P378] -synonym: "hypocalcaemic cataract" EXACT [DOID:13822] +synonym: "hypocalcaemic cataract" EXACT [DOID:13822, icd11.foundation:2073255301] xref: DOID:13822 {source="MONDO:equivalentTo"} xref: icd11.foundation:2073255301 {source="MONDO:equivalentTo"} xref: ICD9:366.42 {source="DOID:13822", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -29858,7 +29859,7 @@ is_a: MONDO:0005129 {source="DOID:13822", source="NCIT:C35068"} ! cataract [Term] id: MONDO:0001812 name: parasitic eyelid infestation -synonym: "parasitic eyelid infestation" EXACT [] +synonym: "parasitic eyelid infestation" EXACT [DOID:13823] synonym: "parasitic infestation of eyelid" EXACT [DOID:13823, ICD9CM:373.6] xref: DOID:13823 {source="MONDO:equivalentTo"} xref: ICD9:373.6 {source="DOID:13823", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -29987,7 +29988,7 @@ relationship: disease_has_feature MONDO:0000748 ! mastoiditis id: MONDO:0001821 name: hypoactive sexual desire disorder def: "A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition." [NCIT:P378] -synonym: "lack or loss of sexual desire" EXACT [DOID:13868] +synonym: "lack or loss of sexual desire" EXACT [DOID:13868, ICD10CM:F52.0] xref: DOID:13868 {source="MONDO:equivalentTo"} xref: ICD10CM:F52.0 {source="DOID:13868", source="MONDO:equivalentTo"} xref: ICD9:302.71 {source="DOID:13868", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -30010,7 +30011,7 @@ subset: gard_rare {source="GARD:8394", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hypolipoproteinaemia" EXACT [DOID:1387] -synonym: "hypolipoproteinemia" EXACT [MONDO:ambiguous] +synonym: "hypolipoproteinemia" EXACT [DOID:1387, MONDO:ambiguous] synonym: "hypolipoproteinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "lipoprotein deficiencies" RELATED [DOID:1387, ICD9CM:272.5] xref: DOID:1387 {source="MONDO:equivalentTo"} @@ -30060,7 +30061,7 @@ def: "A disease or disorder affecting more than one nerve." [NCIT:C26951] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "polyneuropathy" EXACT [NCIT:C26951] +synonym: "polyneuropathy" EXACT [DOID:1389, icd11.foundation:58868923, NCIT:C26951] xref: DOID:1389 {source="MONDO:equivalentTo"} xref: EFO:0009562 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:A69.22 {source="DOID:1389"} @@ -30092,8 +30093,8 @@ synonym: "epidermoid cell papilloma" EXACT [NCIT:C3712] synonym: "epidermoid papilloma" EXACT [DOID:139, NCIT:C3712] synonym: "keratotic papilloma" EXACT [NCIT:C3712] synonym: "papilloma, squamous cell, benign" EXACT [NCIT:C3712] -synonym: "squamous cell papilloma" EXACT [NCIT:C3712] -synonym: "squamous cell papilloma (morphologic abnormality)" EXACT [DOID:139] +synonym: "squamous cell papilloma" EXACT [DOID:139, NCIT:C3712] +synonym: "squamous cell papilloma (morphologic abnormality)" EXACT [] synonym: "squamous papilloma" EXACT [NCIT:C3712] xref: DOID:139 {source="MONDO:equivalentTo"} xref: EFO:1001970 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -30115,7 +30116,7 @@ replaced_by: MONDO:0017774 id: MONDO:0001827 name: white piedra def: "A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts." [https://www.ncbi.nlm.nih.gov/books/NBK7902] -synonym: "Tinea blanca" EXACT [DOID:13902, ICD9CM:111.2] +synonym: "Tinea blanca" EXACT [DOID:13902, ICD10CM:B36.2, ICD9CM:111.2] xref: DOID:13902 {source="MONDO:equivalentTo"} xref: ICD10CM:B36.2 {source="DOID:13902", source="MONDO:equivalentTo"} xref: icd11.foundation:303653536 {source="MONDO:equivalentTo"} @@ -30138,10 +30139,10 @@ def: "Non-heritable difficulty in distinguishing colors." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "acquired color vision deficiencies" EXACT [DOID:13912, ICD9CM:368.55] -synonym: "acquired color vision deficiency" EXACT [DOID:13912] +synonym: "acquired color vision deficiency" EXACT [DOID:13912, ICD10CM:H53.52] synonym: "acquired color vision disorder" EXACT [MONDO:patterns/acquired] -synonym: "acquired colour vision deficiencies" EXACT OMO:0003005 [] -synonym: "acquired colour vision deficiency" EXACT OMO:0003005 [] +synonym: "acquired colour vision deficiencies" EXACT OMO:0003005 [DOID:13912] +synonym: "acquired colour vision deficiency" EXACT OMO:0003005 [DOID:13912] synonym: "acquired colour vision disorder" EXACT OMO:0003005 [] xref: DOID:13912 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.52 {source="DOID:13912", source="MONDO:equivalentTo"} @@ -30178,7 +30179,7 @@ intersection_of: disease_has_location UBERON:0001815 ! lumbosacral nerve plexus id: MONDO:0001830 name: somatization disorder def: "Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)" [MESH:D013001] -synonym: "Briquet's disorder" EXACT [DOID:13918] +synonym: "Briquet's disorder" EXACT [DOID:13918, ICD10CM:F45.0] synonym: "Polysomatising disorder" RELATED [DOID:13918] synonym: "Somatisation disorder" EXACT [DOID:13918] xref: DOID:13918 {source="MONDO:equivalentTo"} @@ -30213,7 +30214,7 @@ is_a: MONDO:0011284 {source="DOID:13919", source="icd11.foundation:1086387343"} id: MONDO:0001832 name: bacterial esophagitis def: "An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations." [NCIT:C27106] -synonym: "bacterial esophagitis" EXACT [NCIT:C27106] +synonym: "bacterial esophagitis" EXACT [DOID:13921, NCIT:C27106] xref: DOID:13921 {source="MONDO:equivalentTo"} xref: MEDGEN:83319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27106 {source="DOID:13921", source="MONDO:equivalentTo"} @@ -30280,7 +30281,7 @@ name: facial paralysis def: "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis." [MESH:D005158] subset: otar {source="MONDO:OTAR"} synonym: "face palsy" EXACT [MONDO:patterns/location] -synonym: "facial palsy" EXACT [DOID:13934, NCIT:C26769] +synonym: "facial palsy" EXACT [DOID:13934] synonym: "palsy of face" EXACT [MONDO:design_pattern] xref: DOID:13934 {source="MONDO:equivalentTo"} xref: ICD10CM:G51.0 {source="DOID:13934"} @@ -30305,7 +30306,7 @@ name: amenorrhea def: "The absence of menses in a woman who has achieved reproductive age." [NCIT:P378] synonym: "absence of menstruation" EXACT [DOID:13938, ICD9CM:626.0] synonym: "amenia" EXACT [DOID:13938] -synonym: "amenorrhea" EXACT [MONDO:ambiguous] +synonym: "amenorrhea" EXACT [DOID:13938, MONDO:ambiguous, NCIT:C61443] synonym: "amenorrhea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:13938 {source="MONDO:equivalentTo"} xref: HP:0000141 {source="MONDO:otherHierarchy"} @@ -30344,9 +30345,9 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0001838 name: acute gonococcal prostatitis def: "Acute form of gonococcal prostatitis." [MONDO:patterns/acute] -synonym: "acute gonococcal prostatitis" EXACT [DOID:13943] -synonym: "gonococcal prostatitis" BROAD [DOID:13943] -synonym: "gonococcal prostatitis (acute)" EXACT [DOID:13943, ICD9CM:098.12] +synonym: "acute gonococcal prostatitis" EXACT [DOID:13943, icd11.foundation:1552826290] +synonym: "gonococcal prostatitis" BROAD [] +synonym: "gonococcal prostatitis (acute)" EXACT [ICD9CM:098.12] synonym: "gonococcal prostatitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:13943 {source="MONDO:equivalentTo"} xref: icd11.foundation:1552826290 {source="MONDO:equivalentTo"} @@ -30405,7 +30406,7 @@ id: MONDO:0001843 name: uterus interstitial leiomyoma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "intramural leiomyoma of uterus" EXACT [DOID:13955, ICD9CM:218.1] +synonym: "intramural leiomyoma of uterus" EXACT [DOID:13955, ICD10CM:D25.1, ICD9CM:218.1] xref: DOID:13955 {source="MONDO:equivalentTo"} xref: ICD10CM:D25.1 {source="DOID:13955", source="MONDO:equivalentTo"} xref: ICD9:218.1 {source="DOID:13955", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -30455,7 +30456,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "bizarre leiomyoma of body of uterus" EXACT [MONDO:design_pattern] synonym: "body of uterus bizarre leiomyoma" EXACT [MONDO:patterns/location] -synonym: "uterine corpus bizarre leiomyoma" EXACT [NCIT:C40167] +synonym: "uterine corpus bizarre leiomyoma" EXACT [DOID:13958, NCIT:C40167] synonym: "uterine corpus leiomyoma with bizarre nuclei" EXACT [NCIT:C40167] synonym: "uterine corpus leiomyoma, atypical variant" EXACT [NCIT:C40167] synonym: "uterine corpus Symplastic leiomyoma" EXACT [DOID:13958, NCIT:C40167] @@ -30494,7 +30495,7 @@ intersection_of: disease_has_location UBERON:0000390 ! lens nucleus id: MONDO:0001848 name: Morgagni cataract def: "A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag." [http://eyewiki.aao.org/Morgagnian_Cataract] -synonym: "hypermature cataract" BROAD [DOID:13964, ICD9CM:366.18] +synonym: "hypermature cataract" BROAD [ICD9CM:366.18] synonym: "Morgagnian cataract" EXACT [] xref: DOID:13964 {source="MONDO:equivalentTo"} xref: ICD9:366.18 {source="DOID:13964", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -30560,7 +30561,7 @@ synonym: "lymphoma of the small intestine" EXACT [NCIT:C4007] synonym: "primary small intestinal lymphoma" EXACT [NCIT:C4007] synonym: "small bowel lymphoma" EXACT [NCIT:C4007] synonym: "small intestinal lymphoma" EXACT [DOID:13996, NCIT:C4007] -synonym: "small intestine lymphoma" EXACT [MONDO:patterns/location, NCIT:C4007] +synonym: "small intestine lymphoma" EXACT [DOID:13996, MONDO:patterns/location, NCIT:C4007] xref: DOID:13996 {source="MONDO:equivalentTo"} xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:82986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -30596,7 +30597,7 @@ synonym: "disease or disorder of lacrimal apparatus" EXACT [] synonym: "disorder of lacrimal apparatus" EXACT [MONDO:patterns/location_top] synonym: "disorder of lacrimal system" EXACT [NCIT:C26809] synonym: "lachrymal system disorders" RELATED [] -synonym: "lacrimal apparatus disease" EXACT [MONDO:patterns/location] +synonym: "lacrimal apparatus disease" EXACT [DOID:1400, MONDO:patterns/location] synonym: "lacrimal apparatus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lacrimal system disease" EXACT [MONDO:0021628] synonym: "lacrimal system disorder" EXACT [NCIT:C26809] @@ -30676,9 +30677,9 @@ synonym: "costochondral junction syndrome" EXACT [DOID:14021] synonym: "Costochondritis" EXACT [DOID:14021] synonym: "slipping rib syndrome" EXACT [DOID:14021] synonym: "syndromic disease of costochondral joint" EXACT [MONDO:design_pattern] -synonym: "Tietze syndrome" EXACT [DOID:14021] +synonym: "Tietze syndrome" EXACT [NCIT:C168333] synonym: "Tietze's disease" EXACT [DOID:14021, ICD9CM:733.6] -synonym: "Tietze's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Tietze's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:14021, MONDO:LexicalVariant] xref: DOID:14021 {source="MONDO:equivalentTo"} xref: ICD10CM:M94.0 {source="DOID:14021"} xref: ICD9:733.6 {source="DOID:14021", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -30720,12 +30721,12 @@ is_a: MONDO:0019369 {source="DOID:14022"} ! complex regional pain syndrome [Term] id: MONDO:0001860 name: folic acid deficiency anemia -synonym: "folate deficiency anaemia" EXACT OMO:0003005 [] +synonym: "folate deficiency anaemia" EXACT OMO:0003005 [DOID:14026] synonym: "folate deficiency anemia" EXACT [DOID:14026] -synonym: "folate-deficiency anaemia" EXACT OMO:0003005 [] +synonym: "folate-deficiency anaemia" EXACT OMO:0003005 [DOID:14026] synonym: "folate-deficiency anemia" EXACT [DOID:14026, ICD9CM:281.2] -synonym: "folate-deficient megaloblastic anaemia" EXACT OMO:0003005 [] -synonym: "folate-deficient megaloblastic anemia" EXACT [DOID:14026] +synonym: "folate-deficient megaloblastic anaemia" EXACT OMO:0003005 [DOID:14026] +synonym: "folate-deficient megaloblastic anemia" EXACT [] xref: DOID:14026 {source="MONDO:equivalentTo"} xref: ICD10CM:D52 {source="DOID:14026"} xref: ICD10CM:D52.9 {source="DOID:14026"} @@ -30795,7 +30796,7 @@ id: MONDO:0001866 name: bipolar I disorder def: "A bipolar disorder that is characterized by at least one manic or mixed episode." [DOID:14042, http://en.wikipedia.org/wiki/Bipolar_I] synonym: "bipolar 1 disorder" EXACT [] -synonym: "bipolar I disorder" EXACT [] +synonym: "bipolar I disorder" EXACT [DOID:14042] xref: DOID:14042 {source="MONDO:equivalentTo"} xref: ICD9:296.50 {source="DOID:14042"} xref: ICD9:296.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -30809,8 +30810,8 @@ is_a: MONDO:0004985 {source="DOID:14042"} ! bipolar disorder id: MONDO:0001867 name: phaeohyphomycosis def: "An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions." [https://www.ncbi.nlm.nih.gov/books/NBK7902/] -synonym: "infection by dematiacious fungi" EXACT [DOID:14049] -synonym: "infection by dematiacious fungi [Phaehyphomycosis]" EXACT [DOID:14049, ICD9CM:117.8] +synonym: "infection by dematiacious fungi" EXACT [DOID:14049, icd11.foundation:547567937] +synonym: "infection by dematiacious fungi [Phaehyphomycosis]" EXACT [icd11.foundation:547567937, ICD9CM:117.8] synonym: "phaehyphomycosis" EXACT [DOID:14049] xref: DOID:14049 {source="MONDO:equivalentTo"} xref: icd11.foundation:547567937 {source="MONDO:equivalentTo"} @@ -30872,10 +30873,10 @@ synonym: "cancer of paraurethral gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of paraurethral gland" EXACT [MONDO:patterns/cancer] synonym: "malignant paraurethral gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of paraurethral gland" EXACT [DOID:14059] -synonym: "malignant tumor of the paraurethral gland" EXACT [DOID:14059, NCIT:C3561] +synonym: "malignant tumor of the paraurethral gland" EXACT [DOID:14059] synonym: "malignant tumour of paraurethral gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the paraurethral gland" EXACT OMO:0003005 [] -synonym: "paraurethral gland cancer" EXACT [MONDO:patterns/location] +synonym: "paraurethral gland cancer" EXACT [DOID:14059, MONDO:patterns/location] xref: DOID:14059 {source="MONDO:equivalentTo"} xref: ICD10CM:C68.1 {source="DOID:14059"} xref: ICD9:189.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14059"} @@ -30895,7 +30896,7 @@ def: "Acute post streptococcal glomerulonephritis is an immunologic response of subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "post-streptococcal glomerulonephritis" RELATED [DOID:14064, NCIT:C35443] +synonym: "post-streptococcal glomerulonephritis" RELATED [] xref: DOID:14064 {source="MONDO:equivalentTo"} xref: MEDGEN:140785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35443 {source="DOID:14064", source="MONDO:directSiblingOf"} @@ -30912,7 +30913,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "acute diffuse glomerulonephritis" EXACT [DOID:14066, NCIT:C35587] -synonym: "acute diffuse nephritis" RELATED [DOID:14066] +synonym: "acute diffuse nephritis" RELATED [] synonym: "diffuse glomerulonephritis, acute" EXACT [MONDO:patterns/acute] xref: DOID:14066 {source="MONDO:equivalentTo"} xref: MEDGEN:137959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -30927,7 +30928,7 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0001872 name: obsolete vestibular nystagmus -synonym: "Nystagmus associated with disorder of the vestibular system" EXACT [DOID:14070, ICD9CM:379.54] +synonym: "Nystagmus associated with disorder of the vestibular system" EXACT [ICD9CM:379.54] synonym: "obsolete vestibular nystagmus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "vestibular nystagmus" EXACT [MONDO:ambiguous] xref: DOID:14070 {source="MONDO:obsoleteEquivalent"} @@ -30942,7 +30943,7 @@ id: MONDO:0001873 name: geniculate ganglionitis def: "Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation." [MESH:D005155] synonym: "geniculate ganglion inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "geniculate ganglionitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] +synonym: "geniculate ganglionitis" EXACT [DOID:14075, ICD10CM:G51.1, icd11.foundation:305361524, MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of geniculate ganglion" EXACT [] xref: DOID:14075 {source="MONDO:equivalentTo"} xref: ICD10CM:G51.1 {source="MONDO:equivalentTo", source="DOID:14075"} @@ -30984,7 +30985,7 @@ synonym: "ectepicondyle of humerus inflammation" EXACT [MONDO:patterns/inflammat synonym: "golfer's elbow" EXACT [DOID:14087] synonym: "hockey elbow" EXACT [DOID:14087] synonym: "inflammation of ectepicondyle of humerus" EXACT [] -synonym: "lateral epicondylitis" EXACT [DOID:14087, ICD9CM:726.32] +synonym: "lateral epicondylitis" EXACT [DOID:14087, ICD10CM:M77.1, ICD9CM:726.32] synonym: "medial epicondylitis" EXACT [DOID:14087] synonym: "shooter's elbow" RELATED [DOID:14087] synonym: "tennis elbow" RELATED [DOID:14087] @@ -31011,7 +31012,7 @@ intersection_of: disease_has_inflammation_site UBERON:0006807 ! ectepicondyle of id: MONDO:0001876 name: renal artery atheroma def: "A atherosclerosis that involves the renal artery." [MONDO:patterns/location] -synonym: "atherosclerosis of renal artery" EXACT [DOID:14092, ICD9CM:440.1] +synonym: "atherosclerosis of renal artery" EXACT [DOID:14092, ICD10CM:I70.1, ICD9CM:440.1] synonym: "renal artery atherosclerosis" EXACT [MONDO:patterns/location] synonym: "renal atherosclerosis" EXACT [DOID:14092] xref: DOID:14092 {source="MONDO:equivalentTo"} @@ -31061,8 +31062,8 @@ id: MONDO:0001879 name: anus cancer def: "A malignant neoplasm involving the anus" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "anal cancer" RELATED EXCLUDE [DOID:14110] -synonym: "anus cancer" EXACT [MONDO:patterns/location] +synonym: "anal cancer" RELATED EXCLUDE [] +synonym: "anus cancer" EXACT [DOID:14110, MONDO:patterns/location] synonym: "cancer of anus" EXACT [MONDO:patterns/cancer] synonym: "malignant anal neoplasm" EXACT [NCIT:C7379] synonym: "malignant anal tumor" EXACT [DOID:14110, NCIT:C7379] @@ -31097,7 +31098,7 @@ intersection_of: disease_has_location UBERON:0001245 ! anus [Term] id: MONDO:0001880 name: median rhomboid glossitis -synonym: "persistent tuberculum impar" EXACT [DOID:14111] +synonym: "persistent tuberculum impar" EXACT [DOID:14111, icd11.foundation:598142773] xref: DOID:14111 {source="MONDO:equivalentTo"} xref: ICD10CM:K14.2 {source="MONDO:equivalentTo", source="DOID:14111"} xref: icd11.foundation:598142773 {source="MONDO:equivalentTo"} @@ -31117,16 +31118,16 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1782"} subset: ordo_disorder {source="Orphanet:36234"} subset: orphanet_rare {source="Orphanet:36234"} subset: rare -synonym: "bacterial toxic-shock syndrome" EXACT [MONDO:0018179] +synonym: "bacterial toxic-shock syndrome" EXACT [MONDO:0018179, Orphanet:36234] synonym: "bacterial TSS" EXACT [Orphanet:36234] -synonym: "shock syndrome (TSS), toxic" EXACT [NCIT:C35498] +synonym: "shock syndrome (TSS), toxic" EXACT [] synonym: "staphylococcal toxic shock syndrome" RELATED [GARD:0009560] -synonym: "syndrome (TSS), toxic shock" EXACT [NCIT:C35498] +synonym: "syndrome (TSS), toxic shock" EXACT [] synonym: "toxic shock" EXACT [DOID:14115] -synonym: "toxic shock syndrome" EXACT [DOID:14115, ICD9CM:040.82, NCIT:C35498] -synonym: "toxic shock syndrome, (TSS)" EXACT [NCIT:C35498] -synonym: "TSS" EXACT ABBREVIATION [DOID:14115] -synonym: "TSS, toxic shock syndrome" EXACT [NCIT:C35498] +synonym: "toxic shock syndrome" EXACT [DOID:14115, ICD10CM:A48.3, icd11.foundation:114886962, ICD9CM:040.82, NCIT:C35498] +synonym: "toxic shock syndrome, (TSS)" EXACT [] +synonym: "TSS" EXACT ABBREVIATION [DOID:14115, NCIT:C35498] +synonym: "TSS, toxic shock syndrome" EXACT [] xref: DOID:14115 {source="MONDO:equivalentTo"} xref: GARD:9560 {source="MONDO:GARD"} xref: ICD10CM:A48.3 {source="Orphanet:36234/e", source="MONDO:equivalentTo", source="DOID:14115", source="Orphanet:36234"} @@ -31149,7 +31150,7 @@ relationship: disease_has_feature HP:0002615 ! Hypotension id: MONDO:0001882 name: bacteriuria def: "The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection." [MESH:D001437] -synonym: "bacteriuria" EXACT [MONDO:ambiguous] +synonym: "bacteriuria" EXACT [DOID:1412, icd11.foundation:626563645, MONDO:ambiguous] synonym: "bacteriuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: CSP:3045-9976 {source="DOID:1412"} xref: DOID:1412 {source="MONDO:equivalentTo"} @@ -31183,11 +31184,11 @@ name: abducens nerve neoplasm def: "A neoplasm involving a abducens nerve." [MONDO:patterns/neoplasm] synonym: "abducens nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "abducens nerve neoplasms" EXACT [NCIT:C5826] -synonym: "abducens nerve tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "abducens nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5826] synonym: "abducens nerve tumors" EXACT [NCIT:C5826] synonym: "abducens nerve tumour" EXACT OMO:0003005 [] synonym: "abducens nerve tumours" EXACT OMO:0003005 [] -synonym: "neoplasm of abducens nerve" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of abducens nerve" EXACT [DOID:14125, MONDO:patterns/neoplasm, NCIT:C5826] synonym: "neoplasm of sixth cranial nerve" EXACT [NCIT:C5826] synonym: "neoplasm of the abducens nerve" EXACT [NCIT:C5826] synonym: "neoplasm of the sixth cranial nerve" EXACT [NCIT:C5826] @@ -31263,7 +31264,7 @@ def: "A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising fro subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "anal lymphoma" EXACT [NCIT:C5601] -synonym: "anus lymphoma" EXACT [MONDO:patterns/location] +synonym: "anus lymphoma" EXACT [DOID:14139, MONDO:patterns/location] synonym: "lymphoma of anus" EXACT [DOID:14139, NCIT:C5601] synonym: "lymphoma of the anus" EXACT [NCIT:C5601] synonym: "primary anal lymphoma" EXACT [NCIT:C5601] @@ -31332,7 +31333,7 @@ synonym: "lymphoma of spinal cord" EXACT [NCIT:C5157] synonym: "lymphoma of the spinal cord" EXACT [DOID:14150, NCIT:C5157] synonym: "primary spinal cord lymphoma" EXACT [NCIT:C5157] synonym: "spinal cord cancer" RELATED [DOID:14150] -synonym: "spinal cord lymphoma" EXACT [MONDO:patterns/location, NCIT:C5157] +synonym: "spinal cord lymphoma" EXACT [DOID:14150, MONDO:patterns/location, NCIT:C5157] xref: DOID:14150 {source="MONDO:equivalentTo"} xref: MEDGEN:236836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5157 {source="DOID:14150", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -31352,7 +31353,7 @@ subset: rare synonym: "melanoma (disease) of spinal cord" EXACT [] synonym: "melanoma of spinal cord" EXACT [NCIT:C5158] synonym: "melanoma of the spinal cord" EXACT [DOID:14151, NCIT:C5158] -synonym: "spinal cord melanoma" EXACT [NCIT:C5158] +synonym: "spinal cord melanoma" EXACT [DOID:14151, NCIT:C5158] synonym: "spinal cord melanoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:14151 {source="MONDO:equivalentTo"} xref: MEDGEN:236837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -31373,7 +31374,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "sarcoma of spinal cord" EXACT [MONDO:patterns/sarcoma, NCIT:C5152] synonym: "sarcoma of the spinal cord" EXACT [DOID:14152, NCIT:C5152] -synonym: "spinal cord sarcoma" EXACT [MONDO:patterns/location, NCIT:C5152] +synonym: "spinal cord sarcoma" EXACT [DOID:14152, MONDO:patterns/location, NCIT:C5152] xref: DOID:14152 {source="MONDO:equivalentTo"} xref: MEDGEN:233459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5152 {source="MONDO:equivalentTo", source="DOID:14152", source="MONDO:exact-label-match"} @@ -31387,8 +31388,8 @@ intersection_of: disease_has_location UBERON:0002240 ! spinal cord id: MONDO:0001895 name: acute retrobulbar neuritis def: "Acute form of retrobulbar neuritis." [MONDO:patterns/acute] -synonym: "retrobulbar neuritis" RELATED EXCLUDE [DOID:14155] -synonym: "retrobulbar neuritis (acute)" EXACT [DOID:14155, ICD9CM:377.32] +synonym: "retrobulbar neuritis" RELATED EXCLUDE [] +synonym: "retrobulbar neuritis (acute)" EXACT [ICD9CM:377.32] synonym: "retrobulbar neuritis, acute" EXACT [MONDO:patterns/acute] xref: DOID:14155 {source="MONDO:equivalentTo"} xref: ICD9:377.32 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14155"} @@ -31435,7 +31436,7 @@ id: MONDO:0001898 name: optic choroid disorder def: "A disease involving the optic choroid." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "choroid disease" RELATED [DOID:1417] +synonym: "choroid disease" RELATED [] synonym: "choroid disorder" EXACT [NCIT:C34468] synonym: "disease of optic choroid" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of optic choroid" EXACT [] @@ -31462,8 +31463,8 @@ intersection_of: disease_has_location UBERON:0001776 ! optic choroid id: MONDO:0001899 name: rheumatic congestive heart failure synonym: "congestive rheumatic heart failure" EXACT [DOID:14172] -synonym: "rheumatic heart failure" EXACT [DOID:14172] -synonym: "rheumatic heart failure (congestive)" EXACT [DOID:14172, ICD9CM:398.91] +synonym: "rheumatic heart failure" EXACT [DOID:14172, ICD10CM:I09.81] +synonym: "rheumatic heart failure (congestive)" EXACT [ICD9CM:398.91] xref: DOID:14172 {source="MONDO:equivalentTo"} xref: ICD10CM:I09.81 {source="DOID:14172", source="MONDO:equivalentTo"} xref: ICD9:398.91 {source="DOID:14172", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -31488,8 +31489,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Immunoglobin G subclass deficiency" EXACT [DOID:14176] synonym: "selective deficiency of IgG" EXACT [DOID:14176] -synonym: "selective IgG deficiency disease" RELATED [DOID:14176] -synonym: "selective IgG immunodeficiency" RELATED [DOID:14176, NCIT:C27142] +synonym: "selective IgG deficiency disease" RELATED [] +synonym: "selective IgG immunodeficiency" RELATED [] synonym: "selective immunoglobulin G deficiency" EXACT [DOID:14176] synonym: "selective Immunoglobulin G subclass deficiency" EXACT [DOID:14176, NCIT:C27024] xref: DOID:14176 {source="MONDO:equivalentTo"} @@ -31515,7 +31516,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital agammaglobulinemia" EXACT [MONDO:patterns/congenital] synonym: "congenital hypogammaglobulinaemia" EXACT [DOID:14177] -synonym: "congenital hypogammaglobulinemia (finding)" EXACT [DOID:14177] +synonym: "congenital hypogammaglobulinemia (finding)" EXACT [] xref: DOID:14177 {source="MONDO:equivalentTo"} xref: ICD9:279.04 {source="DOID:14177"} xref: MEDGEN:1806025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -31642,7 +31643,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7552/renal-t id: MONDO:0001910 name: ochronosis disorder def: "A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis." [NCIT:P378] -synonym: "ochronosis" EXACT [MONDO:ambiguous] +synonym: "ochronosis" EXACT [DOID:14223, MONDO:ambiguous, NCIT:C84938] xref: DOID:14223 {source="MONDO:equivalentTo"} xref: HP:0030764 {source="MONDO:otherHierarchy"} xref: ICD10CM:E70.29 {source="DOID:14223"} @@ -31808,8 +31809,8 @@ is_a: MONDO:0002175 {source="DOID:14245"} ! degeneration of macula and posterior id: MONDO:0001920 name: chronic purulent otitis media def: "Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane." [NCIT:C128386] -synonym: "chronic suppurative otitis Media" EXACT [NCIT:C128386] -synonym: "chronic suppurative otitis media" EXACT [DOID:14247] +synonym: "chronic suppurative otitis Media" EXACT [DOID:14247, NCIT:C128386] +synonym: "chronic suppurative otitis media" EXACT [DOID:14247, NCIT:C128386] synonym: "CSOM" EXACT ABBREVIATION [NCIT:C128386] synonym: "suppurative otitis media, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:14247 {source="MONDO:equivalentTo"} @@ -31911,7 +31912,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of ureter" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of ureter" EXACT [] synonym: "disorder of ureter" EXACT [MONDO:patterns/location_top] -synonym: "ureter disease" EXACT [MONDO:patterns/location] +synonym: "ureter disease" EXACT [MONDO:patterns/location, NCIT:C27148] synonym: "ureter disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "ureter disorder" EXACT [NCIT:C27148] synonym: "ureteric disease" EXACT [NCIT:C27148] @@ -31935,13 +31936,13 @@ synonym: "pulmonary incompetence" EXACT [DOID:14265] synonym: "pulmonary incompetence, non-rheumatic" EXACT [DOID:14265] synonym: "pulmonary insufficiency following trauma and surgery" EXACT [DOID:14265] synonym: "pulmonary regurg." EXACT [DOID:14265] -synonym: "pulmonary regurgitation" EXACT [DOID:14265] +synonym: "pulmonary regurgitation" EXACT [DOID:14265, icd11.foundation:1093888988] synonym: "pulmonary valve regurgitation" EXACT [NCIT:C50848] -synonym: "pulmonary valvular regurgitation" EXACT [NCIT:C50848] +synonym: "pulmonary valvular regurgitation" EXACT [icd11.foundation:1093888988, NCIT:C50848] synonym: "pulmonic insufficiency" EXACT [DOID:14265] -synonym: "pulmonic insufficiency NOS" RELATED EXCLUDE [DOID:14265] +synonym: "pulmonic insufficiency NOS" RELATED EXCLUDE [] synonym: "pulmonic valve regurgitation" EXACT [DOID:14265] -synonym: "regurgitation, pulmonary" EXACT [NCIT:C50848] +synonym: "regurgitation, pulmonary" EXACT [] xref: DOID:14265 {source="MONDO:equivalentTo"} xref: icd11.foundation:1093888988 {source="MONDO:equivalentTo"} xref: MEDGEN:11031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -31959,7 +31960,7 @@ is_a: MONDO:0003628 {source="DOID:14265", source="NCIT:C50848"} ! pulmonary valv id: MONDO:0001928 name: suppurative cholangitis def: "Cholangitis that is characterized by pyogenic organisms." [NCIT:P378] -synonym: "suppurative cholangitis" EXACT [DOID:14269, NCIT:C35336] +synonym: "suppurative cholangitis" EXACT [DOID:14269, icd11.foundation:32799822, NCIT:C35336] xref: DOID:14269 {source="MONDO:equivalentTo"} xref: ICD10CM:K83.0 {source="DOID:14269"} xref: icd11.foundation:32799822 {source="MONDO:equivalentTo"} @@ -32017,7 +32018,7 @@ name: obsolete atrophic vulva comment: This is not a true disease, more of a phenotype or process. synonym: "atrophic vulva" EXACT [] synonym: "atrophic vulvitis" RELATED [] -synonym: "atrophy of vulva" EXACT [DOID:14275, ICD9CM:624.1] +synonym: "atrophy of vulva" EXACT [ICD9CM:624.1] xref: DOID:14275 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:N90.5 {source="MONDO:obsoleteEquivalent", source="DOID:14275"} xref: ICD9:624.1 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:14275"} @@ -32037,7 +32038,7 @@ synonym: "disease or disorder of endocrine pancreas" EXACT [] synonym: "disorder of endocrine pancreas" EXACT [MONDO:patterns/location_top] synonym: "disorder of islets of langerhans" RELATED [] synonym: "disorder of pancreatic islets" RELATED [] -synonym: "endocrine pancreas disease" EXACT [MONDO:patterns/location, NCIT:C27067] +synonym: "endocrine pancreas disease" EXACT [DOID:1428, MONDO:patterns/location, NCIT:C27067] synonym: "endocrine pancreas disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "endocrine pancreas disorder" EXACT [NCIT:C27067] xref: DOID:1428 {source="MONDO:equivalentTo"} @@ -32071,7 +32072,7 @@ synonym: "arthropathy associated with neurological disorder" EXACT [DOID:14286, synonym: "Charcot's arthropathy" EXACT [DOID:14286] synonym: "Charcot's joint" RELATED [DOID:14286] synonym: "neuropathic arthropathy" EXACT [DOID:14286] -synonym: "neuropathic arthropathy (& Charcot's)" EXACT [DOID:14286] +synonym: "neuropathic arthropathy (& Charcot's)" EXACT [] xref: DOID:14286 {source="MONDO:equivalentTo"} xref: EFO:1001378 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:M14.6 {source="DOID:14286"} @@ -32135,12 +32136,12 @@ subset: rare synonym: "angiolymphoid cutaneous hyperplasia" EXACT [DOID:14308, NCIT:C7393] synonym: "angiolymphoid hyperplasia of skin" EXACT [NCIT:C7393] synonym: "angiolymphoid hyperplasia of the skin" EXACT [NCIT:C7393] -synonym: "epithelioid hemangioma of skin" EXACT [NCIT:C7393] +synonym: "epithelioid hemangioma of skin" EXACT [DOID:14308, NCIT:C7393] synonym: "epithelioid hemangioma of the skin" EXACT [NCIT:C7393] synonym: "histiocytoid hemangioma of skin" EXACT [NCIT:C7393] synonym: "histiocytoid hemangioma of the skin" EXACT [NCIT:C7393] synonym: "histiocytoid hemangioma of zone of skin" EXACT [MONDO:design_pattern] -synonym: "skin epithelioid hemangioma" EXACT [NCIT:C7393] +synonym: "skin epithelioid hemangioma" EXACT [DOID:14308, NCIT:C7393] synonym: "zone of skin histiocytoid hemangioma" EXACT [MONDO:patterns/location] xref: DOID:14308 {source="MONDO:equivalentTo"} xref: MEDGEN:297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -32173,7 +32174,7 @@ id: MONDO:0001941 name: blindness (disorder) def: "The lack of vision. It is caused by neurological or physiological factors." [NCIT:C97109] subset: otar {source="MONDO:OTAR"} -synonym: "blindness" RELATED [DOID:1432] +synonym: "blindness" RELATED [] synonym: "vision impairment" EXACT [DOID:1432] synonym: "vision loss" EXACT [DOID:1432] synonym: "visual impairment" EXACT [DOID:1432] @@ -32200,7 +32201,7 @@ id: MONDO:0001942 name: generalized anxiety disorder def: "An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "GAD" EXACT ABBREVIATION [NCIT:C92622] +synonym: "GAD" EXACT ABBREVIATION [] xref: DOID:14320 {source="MONDO:equivalentTo"} xref: EFO:1001892 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F41.1 {source="MONDO:equivalentTo", source="DOID:14320"} @@ -32257,8 +32258,8 @@ subset: ordo_disorder {source="Orphanet:97349"} subset: orphanet_rare {source="Orphanet:97349"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "postencephalitic Parkinsonism" EXACT [DOID:14332, NCIT:C34898] -synonym: "postencephalitic parkinsonism" EXACT [DOID:14332, MONDO:0019974] +synonym: "postencephalitic Parkinsonism" EXACT [DOID:14332, NCIT:C34898, Orphanet:97349] +synonym: "postencephalitic parkinsonism" EXACT [DOID:14332, MONDO:0019974, NCIT:C34898, Orphanet:97349] xref: DOID:14332 {source="MONDO:equivalentTo"} xref: EFO:1001402 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19370 {source="MONDO:GARD"} @@ -32278,8 +32279,8 @@ relationship: disease_has_major_feature MONDO:0001627 {source="Orphanet:97349"} id: MONDO:0001946 name: obsolete hyperestrogenism def: "OBSOLETE. Abnormally high level of estrogen." [NCIT:P378] -synonym: "estrogen Excess" RELATED [NCIT:C113344] -synonym: "hyperestrogenism" EXACT [DOID:14336, ICD9CM:256.0] +synonym: "estrogen Excess" RELATED [] +synonym: "hyperestrogenism" EXACT [ICD9CM:256.0] xref: DOID:14336 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E28.0 {source="MONDO:obsoleteEquivalent", source="DOID:14336"} xref: ICD10WHO:E28.0 {source="MONDO:obsoleteEquivalent"} @@ -32299,7 +32300,7 @@ name: suppurative thyroiditis def: "Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis." [MESH:D013969] subset: otar {source="MONDO:OTAR"} synonym: "abscess of thyroid" BROAD [https://orcid.org/0000-0002-8169-9049, OMOP:4010825, SCTID:102452004] -synonym: "acute suppurative thyroiditis" EXACT [DOID:14350] +synonym: "acute suppurative thyroiditis" EXACT [DOID:14350, NCIT:C129724] synonym: "infectious thyroiditis" EXACT [DOID:14350] synonym: "suppurative thyroiditis" EXACT [DOID:14350] xref: DOID:14350 {source="MONDO:equivalentTo"} @@ -32374,11 +32375,11 @@ id: MONDO:0001952 name: parietal lobe cancer def: "A malignant neoplasm involving the parietal lobe" [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of parietal lobe" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of parietal lobe" EXACT [DOID:14384, MONDO:patterns/cancer] +synonym: "malignant neoplasm of parietal lobe" EXACT [DOID:14384, ICD10CM:C71.3, MONDO:patterns/cancer] synonym: "malignant parietal lobe neoplasm" EXACT [MONDO:patterns/cancer] synonym: "parietal lobe cancer" EXACT [MONDO:patterns/location] -synonym: "parietal lobe neoplasm" RELATED [DOID:14384] -synonym: "tumor of parietal lobe" RELATED EXCLUDE [DOID:14384] +synonym: "parietal lobe neoplasm" RELATED [] +synonym: "tumor of parietal lobe" RELATED EXCLUDE [] synonym: "tumour of parietal lobe" RELATED OMO:0003005 [] xref: DOID:14384 {source="MONDO:equivalentTo"} xref: ICD10CM:C71.3 {source="DOID:14384", source="MONDO:equivalentTo"} @@ -32398,8 +32399,8 @@ intersection_of: disease_has_location UBERON:0001872 ! parietal lobe id: MONDO:0001953 name: pyuria def: "The presence of excessive white blood cells in the urine as determined by urinalysis." [NCIT:P378] -synonym: "pus cells in urine" EXACT [DOID:1439] -synonym: "pyuria" EXACT [MONDO:ambiguous] +synonym: "pus cells in urine" EXACT [DOID:1439, icd11.foundation:2000630356] +synonym: "pyuria" EXACT [DOID:1439, icd11.foundation:2000630356, MONDO:ambiguous] synonym: "pyuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1439 {source="MONDO:equivalentTo"} xref: HP:0012085 {source="MONDO:otherHierarchy"} @@ -32463,14 +32464,14 @@ subset: rare synonym: "acute vascular leak syndrome" EXACT [NCIT:C62578] synonym: "AVLS" EXACT ABBREVIATION [NCIT:C62578] synonym: "capillary hyperpermeability syndrome" EXACT [Orphanet:188] -synonym: "capillary leak syndrome" EXACT [Orphanet:188] +synonym: "capillary leak syndrome" EXACT [DOID:14400, NCIT:C62578, Orphanet:188] synonym: "capillary leak syndrome with monoclonal gammopathy" RELATED [GARD:0001084] synonym: "Clarkson disease" EXACT [Orphanet:188] synonym: "CLS" EXACT ABBREVIATION [NCIT:C62578] synonym: "idiopathic capillary leak syndrome" EXACT [Orphanet:188] synonym: "periodic systemic capillary leak syndrome" RELATED [GARD:0001084] synonym: "SCLS" EXACT ABBREVIATION [Orphanet:188] -synonym: "systemic capillary leak syndrome" EXACT [MONDO:0015996] +synonym: "systemic capillary leak syndrome" EXACT [MONDO:0015996, Orphanet:188] xref: DOID:14400 {source="MONDO:equivalentTo"} xref: EFO:1001284 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:1084 {source="MONDO:GARD"} @@ -32667,8 +32668,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:99906"} subset: orphanet_rare {source="Orphanet:99906"} subset: rare -synonym: "farmer lung" EXACT [DOID:14453] -synonym: "farmer's lung" EXACT [MONDO:0020534] +synonym: "farmer lung" EXACT [DOID:14453, icd11.foundation:666590509] +synonym: "farmer's lung" EXACT [DOID:14453, MONDO:0020534, NCIT:C34605] synonym: "Farmers lung" EXACT [DOID:14453] xref: DOID:14453 {source="MONDO:equivalentTo"} xref: GARD:6427 {source="MONDO:GARD"} @@ -32807,10 +32808,10 @@ intersection_of: disease_has_location UBERON:0000056 ! ureter id: MONDO:0001978 name: regional ureteric cancer def: "Carcinoma of the ureter without spread to any other region." [NCIT:P378] -synonym: "regional malignant ureteral tumor" EXACT [DOID:14491, NCIT:C8716] +synonym: "regional malignant ureteral tumor" EXACT [DOID:14491] synonym: "regional malignant ureteral tumour" EXACT OMO:0003005 [] -synonym: "regional ureter carcinoma" EXACT [NCIT:C9356] -synonym: "regional ureteric carcinoma" EXACT [DOID:14491, NCIT:C9356] +synonym: "regional ureter carcinoma" EXACT [] +synonym: "regional ureteric carcinoma" EXACT [DOID:14491] xref: DOID:14491 {source="MONDO:equivalentTo"} xref: MEDGEN:167733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8716 {source="DOID:14491"} @@ -32824,7 +32825,7 @@ name: dumping syndrome def: "A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "dumping (jejunal) syndrome" EXACT [DOID:14495] -synonym: "jejunal syndrome" EXACT [DOID:14495] +synonym: "jejunal syndrome" EXACT [DOID:14495, icd11.foundation:237191235] xref: DOID:14495 {source="MONDO:equivalentTo"} xref: EFO:1001307 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K91.1 {source="DOID:14495"} @@ -32863,13 +32864,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lipoid histiocytosis" EXACT [DOID:14504] -synonym: "lipoid histiocytosis (classical phosphatide)" EXACT [DOID:14504] -synonym: "Niemann-Pick disease with cholesterol esterification block" EXACT [DOID:14504] -synonym: "Niemann-Pick disease, subacute juvenile form" EXACT [DOID:14504] +synonym: "lipoid histiocytosis (classical phosphatide)" EXACT [] +synonym: "Niemann-Pick disease with cholesterol esterification block" EXACT [] +synonym: "Niemann-Pick disease, subacute juvenile form" EXACT [] synonym: "sphingomyelin lipidosis" EXACT [DOID:14504] synonym: "sphingomyelin/cholesterol lipidosis" EXACT [NCIT:C61269] synonym: "sphingomyelinase deficiency disease" EXACT [DOID:14504] -synonym: "type A Niemann-Pick disease" NARROW [DOID:14504] +synonym: "type A Niemann-Pick disease" NARROW [] xref: DOID:14504 {source="MONDO:equivalentTo"} xref: EFO:1001380 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:13334 {source="MONDO:GARD"} @@ -32939,7 +32940,7 @@ is_a: MONDO:0006948 {source="DOID:14522", source="NCIT:C35192"} ! retinal artery id: MONDO:0001986 name: Argyll Robertson pupil synonym: "Argyll Robertson phenomenon or pupil, nonsyphilitic" EXACT [DOID:14523] -synonym: "Argyll Robertson pupil, atypical" EXACT [DOID:14523, ICD9CM:379.45] +synonym: "Argyll Robertson pupil, atypical" EXACT [DOID:14523, ICD10CM:H57.01, ICD9CM:379.45] synonym: "atypical Argyll-Robertson pupil" EXACT [DOID:14523] xref: DOID:14523 {source="MONDO:equivalentTo"} xref: ICD10CM:H57.01 {source="MONDO:equivalentTo", source="DOID:14523"} @@ -32981,7 +32982,7 @@ is_a: MONDO:0001670 {source="DOID:14529"} ! tooth resorption id: MONDO:0001989 name: atrophic glossitis subset: otar {source="MONDO:OTAR"} -synonym: "atrophy of tongue papillae" EXACT [DOID:1453] +synonym: "atrophy of tongue papillae" EXACT [DOID:1453, ICD10CM:K14.4] synonym: "glossitis, Hunter's" EXACT [DOID:1453] synonym: "Hunter's glossitis" EXACT [DOID:1453] synonym: "smooth atrophic tongue" EXACT [DOID:1453] @@ -33013,7 +33014,7 @@ synonym: "heart malignant peripheral nerve sheath tumor" EXACT [NCIT:C5367] synonym: "heart malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "heart MPNST" EXACT [NCIT:C5367] synonym: "malignant Cardiac neurilemmoma" EXACT [NCIT:C5367] -synonym: "malignant Cardiac peripheral nerve sheath neoplasm" EXACT [NCIT:C5367] +synonym: "malignant Cardiac peripheral nerve sheath neoplasm" EXACT [DOID:14534, NCIT:C5367] synonym: "malignant Cardiac peripheral nerve sheath tumor" EXACT [NCIT:C5367] synonym: "malignant Cardiac peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "malignant Cardiac schwannoma" EXACT [NCIT:C5367] @@ -33049,14 +33050,14 @@ def: "A rare malignant germ cell tumor that arises from the pericardium." [NCIT: subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "malignant Cardiac germ cell neoplasm" EXACT [NCIT:C5371] -synonym: "malignant Cardiac germ cell tumor" EXACT [NCIT:C5371] -synonym: "malignant Cardiac germ cell tumour" EXACT OMO:0003005 [] +synonym: "malignant Cardiac germ cell tumor" EXACT [DOID:14535, NCIT:C5371] +synonym: "malignant Cardiac germ cell tumour" EXACT OMO:0003005 [DOID:14535] synonym: "malignant germ cell neoplasm of heart" EXACT [NCIT:C5371] synonym: "malignant germ cell neoplasm of the heart" EXACT [NCIT:C5371] synonym: "malignant germ cell tumor of heart" EXACT [NCIT:C5371] synonym: "malignant germ cell tumor of the heart" EXACT [DOID:14535, NCIT:C5371] synonym: "malignant germ cell tumour of heart" EXACT OMO:0003005 [] -synonym: "malignant germ cell tumour of the heart" EXACT OMO:0003005 [] +synonym: "malignant germ cell tumour of the heart" EXACT OMO:0003005 [DOID:14535] synonym: "malignant heart germ cell neoplasm" EXACT [NCIT:C5371] synonym: "malignant heart germ cell tumor" EXACT [NCIT:C5371] synonym: "malignant heart germ cell tumour" EXACT OMO:0003005 [] @@ -33074,10 +33075,10 @@ intersection_of: disease_has_location UBERON:0000948 ! heart id: MONDO:0001992 name: rete testis adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the rete testis" [https://orcid.org/0000-0002-6601-2165] -synonym: "adenocarcinoma of rete testis" EXACT [DOID:14544, NCIT:C8955] +synonym: "adenocarcinoma of rete testis" EXACT [NCIT:C8955] synonym: "adenocarcinoma of the rete testis" EXACT [DOID:14544, NCIT:C8955] synonym: "carcinoma, rete testis, malignant" EXACT [NCIT:C8955] -synonym: "rete testis adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C8955] +synonym: "rete testis adenocarcinoma" EXACT [DOID:14544, MONDO:patterns/location, NCIT:C8955] xref: DOID:14544 {source="MONDO:equivalentTo"} xref: MEDGEN:209023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8955 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:14544"} @@ -33091,7 +33092,7 @@ intersection_of: disease_has_location UBERON:0003959 ! rete testis id: MONDO:0001993 name: seminal vesicle adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the seminal vesicle" [https://orcid.org/0000-0002-6601-2165] -synonym: "seminal vesicle adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C39906] +synonym: "seminal vesicle adenocarcinoma" EXACT [DOID:14545, MONDO:patterns/location, NCIT:C39906] xref: DOID:14545 {source="MONDO:equivalentTo"} xref: MEDGEN:311271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39906 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:14545"} @@ -33109,7 +33110,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cancer of sphenoidal sinus" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of sphenoid sinus" EXACT [NCIT:C3543] +synonym: "malignant neoplasm of sphenoid sinus" EXACT [ICD10CM:C31.3, NCIT:C3543] synonym: "malignant neoplasm of sphenoidal sinus" EXACT [MONDO:patterns/cancer, NCIT:C3543] synonym: "malignant neoplasm of the sphenoid sinus" EXACT [NCIT:C3543] synonym: "malignant neoplasm of the sphenoidal sinus" EXACT [NCIT:C3543] @@ -33119,7 +33120,7 @@ synonym: "malignant sphenoid sinus tumour" EXACT OMO:0003005 [] synonym: "malignant sphenoidal sinus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3543] synonym: "malignant sphenoidal sinus tumor" EXACT [NCIT:C3543] synonym: "malignant sphenoidal sinus tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of sphenoid sinus" EXACT [NCIT:C3543] +synonym: "malignant tumor of sphenoid sinus" EXACT [DOID:14546, NCIT:C3543] synonym: "malignant tumor of sphenoidal sinus" EXACT [DOID:14546, NCIT:C3543] synonym: "malignant tumor of the sphenoid sinus" EXACT [NCIT:C3543] synonym: "malignant tumor of the sphenoidal sinus" EXACT [NCIT:C3543] @@ -33127,7 +33128,7 @@ synonym: "malignant tumour of sphenoid sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of sphenoidal sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of the sphenoid sinus" EXACT OMO:0003005 [] synonym: "malignant tumour of the sphenoidal sinus" EXACT OMO:0003005 [] -synonym: "sphenoidal sinus cancer" EXACT [MONDO:patterns/location] +synonym: "sphenoidal sinus cancer" EXACT [DOID:14546, MONDO:patterns/location] xref: DOID:14546 {source="MONDO:equivalentTo"} xref: ICD10CM:C31.3 {source="MONDO:equivalentTo", source="DOID:14546"} xref: ICD9:160.5 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14546"} @@ -33153,7 +33154,7 @@ synonym: "epidermoid carcinoma of sphenoidal sinus" EXACT [NCIT:C6066] synonym: "epidermoid carcinoma of the sphenoid sinus" EXACT [NCIT:C6066] synonym: "epidermoid carcinoma of the sphenoidal sinus" EXACT [DOID:14547, NCIT:C6066] synonym: "sphenoid sinus epidermoid carcinoma" EXACT [NCIT:C6066] -synonym: "sphenoid sinus squamous cell carcinoma" EXACT [NCIT:C6066] +synonym: "sphenoid sinus squamous cell carcinoma" EXACT [DOID:14547, NCIT:C6066] synonym: "sphenoidal sinus epidermoid carcinoma" EXACT [NCIT:C6066] synonym: "sphenoidal sinus squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6066] synonym: "squamous cell carcinoma of sphenoid sinus" EXACT [NCIT:C6066] @@ -33216,8 +33217,8 @@ id: MONDO:0001999 name: primary pulmonary hypertension def: "Increased blood pressure in the arteries of the lungs; the etiology is unknown." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "primary pulmonary hypertension" EXACT CLINGEN_LABEL [] -synonym: "pulmonary hypertension, primary" EXACT [OMIMPS:178600] +synonym: "primary pulmonary hypertension" EXACT CLINGEN_LABEL [DOID:14557, ICD10CM:I27.0] +synonym: "pulmonary hypertension, primary" EXACT [] xref: DOID:14557 {source="MONDO:equivalentTo"} xref: ICD10CM:I27.0 {source="MONDO:equivalentTo", source="DOID:14557"} xref: ICD9:416.0 {source="DOID:14557"} @@ -33323,9 +33324,9 @@ def: "Inflammation of the inner ear. The cause is often not clear. It may be due comment: Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case. subset: otar {source="MONDO:OTAR"} synonym: "inflammation of internal ear" EXACT [] -synonym: "inner ear infection" RELATED [DOID:3930] +synonym: "inner ear infection" RELATED [] synonym: "internal ear inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "otitis interna" EXACT [Wikipedia:Labyrinthitis] +synonym: "otitis interna" EXACT [DOID:3930, icd11.foundation:901550793, Wikipedia:Labyrinthitis] xref: DOID:1468 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:3930 {source="MONDO:equivalentTo"} xref: EFO:0009604 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -33353,16 +33354,16 @@ id: MONDO:0002009 name: major depressive disorder def: "An episode of depression lasting two or more weeks without an intervening episode of mania." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "major depression" EXACT [NCIT:C35094] -synonym: "major depressive disorder" EXACT [NCIT:C35094] -synonym: "major depressive disorder 1" BROAD [OMIM:608516, OMIM:genemap2] -synonym: "major depressive disorder 2" BROAD [OMIM:608516, OMIM:genemap2] -synonym: "major depressive disorder and accelerated response to antidepressant drug treatment" EXACT [OMIM:608516, OMIM:genemap2] -synonym: "major depressive disorder, response to citalopram therapy in" EXACT [OMIM:608516, OMIM:genemap2] +synonym: "major depression" EXACT [DOID:1470, NCIT:C35094] +synonym: "major depressive disorder" EXACT [DOID:1470, NCIT:C35094, OMIM:608516] +synonym: "major depressive disorder 1" BROAD [] +synonym: "major depressive disorder 2" BROAD [] +synonym: "major depressive disorder and accelerated response to antidepressant drug treatment" EXACT [] +synonym: "major depressive disorder, response to citalopram therapy in" EXACT [] synonym: "recurrent major depression" EXACT [DOID:1470] synonym: "single major depressive episode" EXACT [DOID:1470] -synonym: "unipolar depression" EXACT [MONDO:0005263] -synonym: "unipolar depression, susceptibility to" EXACT [OMIM:608516, OMIM:genemap2] +synonym: "unipolar depression" EXACT [DOID:1470, MONDO:0005263, NCIT:C35094, OMIM:608516] +synonym: "unipolar depression, susceptibility to" EXACT [] xref: DOID:1470 {source="EFO:0003761", source="MONDO:equivalentTo"} xref: DOID:2848 {source="EFO:0003761", source="MONDO:directSiblingOf"} xref: EFO:0003761 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -33410,9 +33411,9 @@ subset: otar {source="MONDO:OTAR"} synonym: "FGS" RELATED ABBREVIATION [GARD:0002317] synonym: "FGS1" NARROW ABBREVIATION [GARD:0002317] synonym: "intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED [GARD:0002317] -synonym: "Keller syndrome" EXACT [DOID:14711] +synonym: "Keller syndrome" EXACT [DOID:14711, icd11.foundation:156523187] synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED DEPRECATED [GARD:0002317] -synonym: "Opitz-Kaveggia syndrome" NARROW [DOID:14711, GARD:0002317] +synonym: "Opitz-Kaveggia syndrome" NARROW [GARD:0002317] xref: DOID:14711 {source="MONDO:equivalentTo"} xref: EFO:0009297 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:156523187 {source="MONDO:equivalentTo"} @@ -33441,20 +33442,20 @@ subset: gard_rare {source="GARD:7033", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "methylmalonic acidemia, cblA type" NARROW [DOID:14749] -synonym: "methylmalonic acidemia, cblB type" NARROW [DOID:14749] -synonym: "methylmalonic aciduria" EXACT [DOID:14749] -synonym: "methylmalonic aciduria cblB type" NARROW [DOID:14749] -synonym: "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" NARROW [DOID:14749] -synonym: "methylmalonic aciduria mut type" NARROW [DOID:14749] -synonym: "methylmalonic aciduria type cblA" NARROW [DOID:14749] -synonym: "methylmalonic aciduria type cblB" NARROW [DOID:14749] -synonym: "methylmalonic aciduria, mut type" NARROW [DOID:14749] -synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" NARROW [DOID:14749] -synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" NARROW [DOID:14749] -synonym: "METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency" NARROW [DOID:14749] -synonym: "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A" NARROW [DOID:14749] -synonym: "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B" NARROW [DOID:14749] +synonym: "methylmalonic acidemia, cblA type" NARROW [] +synonym: "methylmalonic acidemia, cblB type" NARROW [] +synonym: "methylmalonic aciduria" EXACT [DOID:14749, NCIT:C98986] +synonym: "methylmalonic aciduria cblB type" NARROW [] +synonym: "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" NARROW [] +synonym: "methylmalonic aciduria mut type" NARROW [] +synonym: "methylmalonic aciduria type cblA" NARROW [] +synonym: "methylmalonic aciduria type cblB" NARROW [] +synonym: "methylmalonic aciduria, mut type" NARROW [] +synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" NARROW [] +synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" NARROW [] +synonym: "METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency" NARROW [] +synonym: "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A" NARROW [] +synonym: "METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B" NARROW [] xref: DOID:14749 {source="MONDO:equivalentTo"} xref: GARD:7033 {source="MONDO:GARD"} xref: ICD10CM:E71.120 {source="MONDO:equivalentTo"} @@ -33481,10 +33482,10 @@ subset: ordo_group_of_disorders {source="Orphanet:2415"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign lymphangioma" EXACT [DOID:1475] -synonym: "benign lymphangioma (morphologic abnormality)" EXACT [DOID:1475] -synonym: "congenital lymphangioma" NARROW [DOID:1475] -synonym: "LM" RELATED ABBREVIATION [Orphanet:2415] -synonym: "lymphangioma" EXACT [NCIT:C8965, Orphanet:2415] +synonym: "benign lymphangioma (morphologic abnormality)" EXACT [] +synonym: "congenital lymphangioma" NARROW [] +synonym: "LM" RELATED ABBREVIATION [] +synonym: "lymphangioma" EXACT [DOID:1475, NCIT:C8965, Orphanet:2415] synonym: "lymphangioma, benign" EXACT [NCIT:C8965] xref: DOID:1475 {source="MONDO:equivalentTo"} xref: GARD:9789 {source="MONDO:GARD"} @@ -33518,7 +33519,7 @@ name: autosomal recessive Ehlers-Danlos syndrome, vascular type def: "The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." [https://www.ncbi.nlm.nih.gov/books/NBK1494/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795069/, MONDO:pr] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "autosomal recessive type IV Ehlers-Danlos syndrome" EXACT [] +synonym: "autosomal recessive type IV Ehlers-Danlos syndrome" EXACT [DOID:14759] synonym: "Ehlers-Danlos syndrome, recessive type 4" EXACT [DOID:14759] synonym: "Ehlers-Danlos syndrome, vascular type, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: DOID:14759 {source="MONDO:equivalentTo"} @@ -33550,7 +33551,7 @@ name: olivopontocerebellar atrophy def: "A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives." [NCIT:P378] synonym: "Dejerine-Thomas syndrome" EXACT [DOID:14784] synonym: "OPCA" RELATED ABBREVIATION [GARD:0007250] -synonym: "Thomas' syndrome" RELATED AMBIGUOUS [DOID:14784] +synonym: "Thomas' syndrome" RELATED AMBIGUOUS [] synonym: "WADIA-swami syndrome" EXACT [DOID:14784] xref: DOID:14784 {source="MONDO:equivalentTo"} xref: ICD10CM:G23.8 {source="DOID:14784"} @@ -33616,7 +33617,7 @@ synonym: "disease of orbital region" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of orbital region" EXACT [] synonym: "disorder of eye region" EXACT [] synonym: "disorder of orbital region" EXACT [MONDO:patterns/location_top] -synonym: "eye and adnexa disease" RELATED [DOID:1492] +synonym: "eye and adnexa disease" RELATED [] synonym: "ophthalmological disorder" RELATED [] synonym: "orbital region disease" EXACT [MONDO:design_pattern] synonym: "orbital region disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -33653,10 +33654,10 @@ name: psychiatric disorder def: "A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia." [NCIT:C2893] subset: otar {source="MONDO:OTAR"} subset: rare_grouping -synonym: "disease of mental health" NARROW [DOID:150] -synonym: "mental disorder" NARROW [NCIT:C2893] -synonym: "mental dysfunction" NARROW [NCIT:C2893] -synonym: "mental illness" NARROW [NCIT:C2893] +synonym: "disease of mental health" NARROW [] +synonym: "mental disorder" NARROW [] +synonym: "mental dysfunction" NARROW [] +synonym: "mental illness" NARROW [] synonym: "Psychiatric disease" EXACT [NCIT:C2893] synonym: "Psychiatric disorder" EXACT [NCIT:C2893] xref: DOID:150 {source="MONDO:equivalentTo"} @@ -33685,11 +33686,11 @@ def: "Infection with the organism Candida." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "Candida infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Candida infection" EXACT [NCIT:C26711] -synonym: "Candidosis" EXACT [NCIT:C26711] -synonym: "disseminated candidiasis" NARROW [DOID:1508, ICD9CM:112.5] +synonym: "Candidosis" EXACT [ICD10CM:B37] +synonym: "disseminated candidiasis" NARROW [ICD9CM:112.5] synonym: "infections, Candida " RELATED [MONDO:patterns/infectious_disease_by_agent] -synonym: "systemic candidiasis" NARROW [DOID:1508] -synonym: "thrush" EXACT [NCIT:C26711] +synonym: "systemic candidiasis" NARROW [] +synonym: "thrush" EXACT [] xref: DOID:1508 {source="MONDO:equivalentTo"} xref: ICD10CM:B37 {source="MONDO:equivalentTo", source="DOID:1508"} xref: ICD10CM:B37.9 {source="DOID:1508"} @@ -33715,7 +33716,7 @@ relationship: has_characteristic MONDO:0045035 {source="https://www.ncbi.nlm.nih id: MONDO:0002027 name: avoidant personality disorder def: "A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection." [NCIT:P378] -synonym: "anxious personality disorder" EXACT [DOID:1509] +synonym: "anxious personality disorder" EXACT [DOID:1509, ICD10CM:F60.6] xref: DOID:1509 {source="MONDO:equivalentTo"} xref: ICD10CM:F60.6 {source="DOID:1509", source="MONDO:equivalentTo"} xref: icd11.foundation:429615620 {source="MONDO:equivalentTo"} @@ -33735,7 +33736,7 @@ name: personality disorder def: "A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work." [NCIT:C34922] subset: otar {source="MONDO:OTAR"} synonym: "character disorder" EXACT [DOID:1510] -synonym: "personality disorder" EXACT [MONDO:ambiguous] +synonym: "personality disorder" EXACT [DOID:1510, icd11.foundation:941859884, MONDO:ambiguous, NCIT:C34922] synonym: "personality disorder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1510 {source="MONDO:equivalentTo"} xref: HP:0012075 {source="MONDO:otherHierarchy"} @@ -33813,8 +33814,8 @@ def: "A carcinoma that arises from epithelial cells of the colon" [https://orcid subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of colon" EXACT [DOID:1520, MONDO:patterns/carcinoma, MTH:191, NCIT:C4910] synonym: "carcinoma of the colon" EXACT [NCIT:C4910] -synonym: "colon cancer" BROAD [NCIT:C4910] -synonym: "colon carcinoma" EXACT [MONDO:patterns/location, NCIT:C4910] +synonym: "colon cancer" BROAD [] +synonym: "colon carcinoma" EXACT [DOID:1520, icd11.foundation:865099988, MONDO:patterns/location, NCIT:C4910] synonym: "colonic carcinoma" EXACT [DOID:1520, NCIT:C4910] xref: DOID:1520 {source="MONDO:equivalentTo"} xref: EFO:1001950 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -33874,7 +33875,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "caecum lymphoma" EXACT [MONDO:patterns/location] synonym: "cecal lymphoma" EXACT [DOID:1522, NCIT:C5515] -synonym: "cecum lymphoma" EXACT [NCIT:C5515] +synonym: "cecum lymphoma" EXACT [DOID:1522, NCIT:C5515] synonym: "lymphoma of caecum" EXACT [MONDO:design_pattern] synonym: "lymphoma of cecum" EXACT [NCIT:C5515] synonym: "lymphoma of the cecum" EXACT [NCIT:C5515] @@ -33894,7 +33895,7 @@ name: colon lymphoma def: "An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C4793] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "colon lymphoma" EXACT [MONDO:patterns/location, NCIT:C4793] +synonym: "colon lymphoma" EXACT [DOID:1523, MONDO:patterns/location, NCIT:C4793] synonym: "colonic lymphoma" EXACT [DOID:1523, NCIT:C4793] synonym: "lymphoma of colon" EXACT [NCIT:C4793] synonym: "lymphoma of the colon" EXACT [NCIT:C4793] @@ -33920,7 +33921,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of penis" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of penis" EXACT [] synonym: "disorder of penis" EXACT [MONDO:patterns/location_top] -synonym: "penile disease" EXACT [NCIT:C26846] +synonym: "penile disease" EXACT [DOID:1529, NCIT:C26846] synonym: "penile disorder" EXACT [NCIT:C26846] synonym: "penis disease" EXACT [MONDO:patterns/location] synonym: "penis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -33948,7 +33949,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of pleura" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pleura" EXACT [] synonym: "disorder of pleura" EXACT [DOID:1532, MONDO:patterns/location_top] -synonym: "non-neoplastic pleural disease" NARROW [DOID:1532] +synonym: "non-neoplastic pleural disease" NARROW [] synonym: "pleura disease" EXACT [MONDO:patterns/location] synonym: "pleura disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "pleural disorder" EXACT [NCIT:C26859] @@ -33972,12 +33973,12 @@ def: "A carcinoma that arises from the head and neck region. Representative exam subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of craniocervical region" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of head and neck" EXACT [NCIT:C35850] -synonym: "carcinoma of neck" EXACT [DOID:1542, MONDO:patterns/carcinoma] +synonym: "carcinoma of neck" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the head and neck" EXACT [NCIT:C35850] -synonym: "carcinoma of the neck" NARROW [DOID:1542, NCIT:C6077] +synonym: "carcinoma of the neck" NARROW [] synonym: "craniocervical region carcinoma" EXACT [MONDO:patterns/location] -synonym: "head and neck cancer" RELATED [NCIT:C35850] -synonym: "head and neck carcinoma" EXACT [NCIT:C35850] +synonym: "head and neck cancer" RELATED [] +synonym: "head and neck carcinoma" EXACT [DOID:1542, NCIT:C35850] synonym: "neck carcinoma" EXACT [MONDO:patterns/location] xref: DOID:1542 {source="MONDO:equivalentTo"} xref: MEDGEN:854345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -33995,8 +33996,8 @@ name: cognitive disorder def: "A disease affects cognitive processes." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} synonym: "cognitive disease" EXACT [DOID:1561] -synonym: "cognitive disorder" EXACT [NCIT:C92196] -synonym: "organic mental disorder" RELATED [DOID:1561, NCIT:C34870] +synonym: "cognitive disorder" EXACT [DOID:1561, NCIT:C92196] +synonym: "organic mental disorder" RELATED [DOID:1561] xref: DOID:0080832 {source="MONDO:mondoIsBroaderThanSource"} xref: DOID:1561 {source="MONDO:equivalentTo"} xref: ICD10CM:F09 {source="DOID:1561"} @@ -34037,15 +34038,15 @@ id: MONDO:0002041 name: fungal infectious disease def: "An infection caused by a fungus." [NCIT:C3245] subset: otar {source="MONDO:OTAR"} -synonym: "fungal infection" RELATED [NCIT:C3245] +synonym: "fungal infection" RELATED [] synonym: "Fungi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Fungi disease or disorder" EXACT [] synonym: "Fungi infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Fungi infectious disease" EXACT [] -synonym: "infection, fungal" RELATED [NCIT:C3245] +synonym: "infection, fungal" RELATED [] synonym: "infections, Fungi" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "mycoses" RELATED [DOID:1564] -synonym: "mycosis" EXACT [DOID:1564] +synonym: "mycosis" EXACT [DOID:1564, NCIT:C3245] xref: DOID:1564 {source="MONDO:equivalentTo"} xref: ICD10CM:B35-B49 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:1564", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:B49 {source="DOID:1564"} @@ -34084,7 +34085,7 @@ id: MONDO:0002043 name: ectropion def: "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" [MESH:D004483] subset: otar {source="MONDO:OTAR"} -synonym: "ectropion" EXACT [MONDO:ambiguous] +synonym: "ectropion" EXACT [DOID:1570, MONDO:ambiguous] synonym: "ectropion (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ectropion of eyelid" EXACT [DOID:1570] synonym: "everted margin" EXACT [DOID:1570] @@ -34141,10 +34142,10 @@ def: "The use of alcoholic beverages to excess, either on individual occasions ( subset: otar {source="MONDO:OTAR"} synonym: "abuse, alcohol" RELATED [MESH:D000437] synonym: "addiction, alcohol" RELATED [MESH:D000437] -synonym: "alcohol abuse" EXACT [MESH:D000437] +synonym: "alcohol abuse" EXACT [DOID:1574, MESH:D000437] synonym: "alcohol addiction" RELATED [MESH:D000437] synonym: "alcohol dependence" RELATED [MESH:D000437] -synonym: "alcohol use disorder" RELATED [DOID:1574] +synonym: "alcohol use disorder" RELATED [] synonym: "alcoholic intoxication, chronic" RELATED [MESH:D000437] synonym: "alcoholism" RELATED [MESH:D000437] synonym: "chronic alcoholic intoxication" RELATED [MESH:D000437] @@ -34193,10 +34194,10 @@ def: "A general class of thrombocytopenia due to immune destruction of platelets subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "auto-immune thrombocytopenia" NARROW [DOID:1587] +synonym: "auto-immune thrombocytopenia" NARROW [] synonym: "immune thrombocytopenia" EXACT [DOID:1587, NCIT:C3991, NORD:1297] synonym: "thrombocytopenia due to immune destruction" EXACT [DOID:1587, NCIT:C3991] -synonym: "thrombocytopenia due to platelet alloimmunization" RELATED [DOID:1587] +synonym: "thrombocytopenia due to platelet alloimmunization" RELATED [] xref: DOID:1587 {source="MONDO:equivalentTo"} xref: MEDGEN:75778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3991 {source="MONDO:equivalentTo", source="MONDO:otherHierarchy", source="DOID:1587"} @@ -34212,8 +34213,8 @@ name: thrombocytopenia def: "A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood." [NCIT:C3408] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "platelet count decreased" EXACT [NCIT:C3408] -synonym: "thrombocytopenic disorder" EXACT [NCIT:C3408] +synonym: "platelet count decreased" EXACT [] +synonym: "thrombocytopenic disorder" EXACT [] xref: DOID:1588 {source="MONDO:equivalentTo"} xref: ICD10CM:D69.6 {source="DOID:1588"} xref: icd11.foundation:683583694 {source="MONDO:equivalentTo"} @@ -34274,7 +34275,7 @@ synonym: "disorder of integument" RELATED [] synonym: "disorder of integumental system" EXACT [MONDO:patterns/location_top] synonym: "integumental system disease" EXACT [MONDO:patterns/location] synonym: "integumental system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "integumentary disease" EXACT [DOID:16] +synonym: "integumentary disease" EXACT [] xref: DOID:16 {source="MONDO:equivalentTo"} xref: EFO:0010285 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:712400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -34288,17 +34289,17 @@ id: MONDO:0002052 name: lymphadenitis def: "Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process." [NCIT:C26821] subset: otar {source="MONDO:OTAR"} -synonym: "acute adenitis" NARROW [DOID:1602] -synonym: "acute lymphadenitis" NARROW [DOID:1602, ICD9CM:683] +synonym: "acute adenitis" NARROW [] +synonym: "acute lymphadenitis" NARROW [ICD9CM:683] synonym: "adenitis" EXACT [DOID:1602, NCIT:C26821] -synonym: "chronic adenitis" NARROW [DOID:1602] -synonym: "chronic lymphadenitis" NARROW [DOID:1602, NCIT:C26966] +synonym: "chronic adenitis" NARROW [] +synonym: "chronic lymphadenitis" NARROW [] synonym: "Inflammation of lymph node" EXACT [DOID:1602] -synonym: "inflammation of lymph node" EXACT [] -synonym: "lymph gland infection" RELATED [NCIT:C26821] +synonym: "inflammation of lymph node" EXACT [DOID:1602] +synonym: "lymph gland infection" RELATED [] synonym: "lymph node inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "lymph nodeitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "lymphadenitis" EXACT [MONDO:ambiguous] +synonym: "lymphadenitis" EXACT [DOID:1602, icd11.foundation:1483611415, MONDO:ambiguous, NCIT:C26821] synonym: "lymphadenitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1602 {source="MONDO:equivalentTo"} xref: HP:0002840 {source="MONDO:otherHierarchy"} @@ -34373,16 +34374,16 @@ is_a: MONDO:0021489 {source="MONDO:Entailed", source="NCIT:C5193/inferred"} ! be id: MONDO:0002056 name: breast fibroadenoma def: "A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported." [NCIT:C3744] -synonym: "breast fibroadenoma" EXACT [NCIT:C3744] -synonym: "cellular fibroadenoma" EXACT [DOID:1618, NCIT:C4276] -synonym: "Complex fibroadenoma of breast" EXACT [DOID:1618, NCIT:C5194] +synonym: "breast fibroadenoma" EXACT [DOID:1618, NCIT:C3744] +synonym: "cellular fibroadenoma" EXACT [DOID:1618] +synonym: "Complex fibroadenoma of breast" EXACT [DOID:1618] synonym: "FA" RELATED ABBREVIATION [ONCOTREE:FA] synonym: "fibroadenoma" EXACT [DOID:1618, NCIT:C3744] -synonym: "fibroadenoma of breast" EXACT [NCIT:C3744] +synonym: "fibroadenoma of breast" EXACT [DOID:1618, NCIT:C3744] synonym: "fibroadenoma of the breast" EXACT [NCIT:C3744] synonym: "fibroadenoma, benign" EXACT [NCIT:C3744] synonym: "juvenile fibroadenoma" EXACT [DOID:1618] -synonym: "juvenile fibroadenoma (morphologic abnormality)" EXACT [DOID:1618] +synonym: "juvenile fibroadenoma (morphologic abnormality)" EXACT [] synonym: "juvenile fibroadenoma of breast" EXACT [DOID:1618] xref: DOID:1618 {source="MONDO:equivalentTo"} xref: ICD10CM:D24 {source="DOID:1618"} @@ -34406,7 +34407,7 @@ is_a: MONDO:0021046 {source="NCIT:C3744", source="ONCOTREE:FA"} ! breast fibroep id: MONDO:0002057 name: breast leiomyoma def: "A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C40399] -synonym: "breast leiomyoma" EXACT [MONDO:patterns/location, NCIT:C40399] +synonym: "breast leiomyoma" EXACT [DOID:1623, MONDO:patterns/location, NCIT:C40399] synonym: "leiomyoma of breast" EXACT [MONDO:design_pattern] xref: DOID:1623 {source="MONDO:equivalentTo"} xref: MEDGEN:267768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -34423,7 +34424,7 @@ name: breast adenoma def: "A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma." [NCIT:C40382] subset: otar {source="MONDO:OTAR"} synonym: "Ademoma - breast" EXACT [DOID:1625] -synonym: "breast adenoma" EXACT [MONDO:patterns/location, NCIT:C40382] +synonym: "breast adenoma" EXACT [DOID:1625, MONDO:patterns/location, NCIT:C40382] xref: DOID:1625 {source="MONDO:equivalentTo"} xref: MEDGEN:231286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40382 {source="MONDO:equivalentTo", source="DOID:1625", source="MONDO:exact-label-match"} @@ -34449,8 +34450,8 @@ subset: otar {source="MONDO:OTAR"} synonym: "duct adenoma" EXACT [NCIT:C3785] synonym: "duct papilloma" EXACT [MONDO:patterns/location] synonym: "ductal papilloma" EXACT [DOID:1627, NCIT:C3785] -synonym: "intraductal papilloma" EXACT [NCIT:C3785] -synonym: "intraductal papilloma (morphologic abnormality)" EXACT [DOID:1627] +synonym: "intraductal papilloma" EXACT [DOID:1627, NCIT:C3785] +synonym: "intraductal papilloma (morphologic abnormality)" EXACT [] xref: DOID:1627 {source="MONDO:equivalentTo"} xref: icd11.foundation:288706574 {source="MONDO:equivalentTo"} xref: ICDO:8503/0 {source="NCIT:C3785"} @@ -34467,7 +34468,7 @@ intersection_of: disease_has_location UBERON:0000058 ! duct id: MONDO:0002061 name: intraductal papillary breast neoplasm def: "A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma." [NCIT:C36090] -synonym: "intraductal papillary breast neoplasm" EXACT [NCIT:C36090] +synonym: "intraductal papillary breast neoplasm" EXACT [DOID:1628, NCIT:C36090] xref: DOID:1628 {source="MONDO:equivalentTo"} xref: MEDGEN:233572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C36090 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:1628"} @@ -34478,7 +34479,7 @@ is_a: MONDO:0002488 {source="DOID:1628", source="NCIT:C36090"} ! intraductal bre id: MONDO:0002062 name: breast myofibroblastoma def: "A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass." [NCIT:C40397] -synonym: "breast myofibroblastoma" EXACT [NCIT:C40397] +synonym: "breast myofibroblastoma" EXACT [DOID:1629, NCIT:C40397] xref: DOID:1629 {source="MONDO:equivalentTo"} xref: MEDGEN:307311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40397 {source="MONDO:equivalentTo", source="NCIT:C40397", source="DOID:1629"} @@ -34490,9 +34491,9 @@ is_a: MONDO:0040675 {source="NCIT:C40397"} ! myofibroblastoma id: MONDO:0002063 name: obsolete breast papillomatosis def: "A benign breast neoplasm characterized by the proliferation of multiple papillomas." [NCIT:C6977] -synonym: "breast papillomatosis" EXACT [MONDO:patterns/location, NCIT:C6977] -synonym: "papillomatosis of breast" EXACT [NCIT:C6977] -synonym: "papillomatosis of the breast" EXACT [DOID:1634, NCIT:C6977] +synonym: "breast papillomatosis" EXACT [MONDO:patterns/location] +synonym: "papillomatosis of breast" EXACT [] +synonym: "papillomatosis of the breast" EXACT [] xref: DOID:1634 {source="MONDO:obsoleteEquivalentObsolete"} xref: NCIT:C6977 {source="DOID:1634", source="MONDO:exact-label-match", source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} @@ -34517,7 +34518,7 @@ name: benign breast adenomyoepithelioma def: "A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation." [NCIT:C5144] synonym: "benign adenomyoepithelioma of breast" EXACT [NCIT:C5144] synonym: "benign adenomyoepithelioma of the breast" EXACT [DOID:1641, NCIT:C5144] -synonym: "benign breast adenomyoepithelioma" EXACT [NCIT:C5144] +synonym: "benign breast adenomyoepithelioma" EXACT [DOID:1641, NCIT:C5144] synonym: "breast adenomyoepithelioma, benign" EXACT [MONDO:patterns/benign] xref: DOID:1641 {source="MONDO:equivalentTo"} xref: MEDGEN:231421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -34532,10 +34533,10 @@ intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant id: MONDO:0002066 name: breast adenomyoepithelioma def: "A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases." [NCIT:C6899] -synonym: "adenomyoepithelioma of the breast" EXACT [DOID:1642, NCIT:C6899] +synonym: "adenomyoepithelioma of the breast" EXACT [NCIT:C6899] synonym: "BRAME" RELATED ABBREVIATION [ONCOTREE:BRAME] -synonym: "breast adenomyoepithelioma" EXACT [NCIT:C6899] -synonym: "breast adenomyoepithelioma with malignant change" EXACT [DOID:1642, NCIT:C5143] +synonym: "breast adenomyoepithelioma" EXACT [DOID:1642, NCIT:C6899] +synonym: "breast adenomyoepithelioma with malignant change" EXACT [DOID:1642] synonym: "malignant adenomyoepithelioma of breast" EXACT [DOID:1642] xref: DOID:1642 {source="MONDO:equivalentTo"} xref: ICDO:8983/0 {source="NCIT:C6899"} @@ -34578,8 +34579,8 @@ def: "A cancer that involves the UBERON:0035289." [MONDO:patterns/location] synonym: "axillary tail of breast cancer" EXACT [] synonym: "cancer of axillary tail of breast" EXACT [MONDO:patterns/cancer] synonym: "malignant axillary tail of breast neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of axillary tail of breast" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of axillary tail of female breast" EXACT [] +synonym: "malignant neoplasm of axillary tail of breast" EXACT [ICD10CM:C50.6, MONDO:patterns/cancer] +synonym: "malignant neoplasm of axillary tail of female breast" EXACT [DOID:1650] xref: DOID:1650 {source="MONDO:equivalentTo"} xref: ICD10CM:C50.6 {source="MONDO:equivalentTo"} xref: ICD10CM:C50.61 {source="DOID:1650"} @@ -34598,13 +34599,13 @@ name: ventricular septal defect def: "The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "heart septal defects, ventricular" RELATED [GARD:0007853] -synonym: "interventricular communication" EXACT [Orphanet:1480] -synonym: "interventricular septal defect" EXACT [DOID:1657] +synonym: "interventricular communication" EXACT [] +synonym: "interventricular septal defect" EXACT [DOID:1657, icd11.foundation:668140715] synonym: "ventricular septal abnormality" EXACT [DOID:1657] -synonym: "ventricular septal defect" EXACT [MONDO:ambiguous] +synonym: "ventricular septal defect" EXACT [DOID:1657, icd11.foundation:668140715, MONDO:ambiguous, NCIT:C84506, OMIMPS:614429] synonym: "ventricular septal defect (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ventricular septal defects" RELATED [GARD:0007853] -synonym: "VSD" EXACT ABBREVIATION [NCIT:C84506, Orphanet:1480] +synonym: "VSD" EXACT ABBREVIATION [NCIT:C84506] xref: DOID:1657 {source="MONDO:equivalentTo"} xref: HP:0001629 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q21.0 {source="DOID:1657"} @@ -34633,7 +34634,7 @@ property_value: IAO:0000589 "ventricular septal defect (disease)" xsd:string id: MONDO:0002071 name: supratentorial cancer def: "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation." [MESH:D015173] -synonym: "brain neoplasm, supratentorial" EXACT [DOID:1659, NCIT:C3397] +synonym: "brain neoplasm, supratentorial" EXACT [DOID:1659] synonym: "malignant supratentorial neoplasm" EXACT [NCIT:C4964] synonym: "malignant supratentorial tumor" EXACT [DOID:1659, NCIT:C4964] synonym: "malignant supratentorial tumour" EXACT OMO:0003005 [] @@ -34653,18 +34654,18 @@ id: MONDO:0002072 name: melanotic neuroectodermal tumor def: "A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course." [NCIT:C3717] synonym: "infantile melanotic neuroectodermal neoplasm" EXACT [DOID:166, NCIT:C3717] -synonym: "melanotic neuroectodermal tumor (morphologic abnormality)" EXACT [DOID:166] -synonym: "melanotic neuroectodermal tumor of infancy" EXACT [NCIT:C3717] -synonym: "melanotic neuroectodermal tumor of infancy (morphologic abnormality)" EXACT [DOID:166] +synonym: "melanotic neuroectodermal tumor (morphologic abnormality)" EXACT [] +synonym: "melanotic neuroectodermal tumor of infancy" EXACT [DOID:166, NCIT:C3717] +synonym: "melanotic neuroectodermal tumor of infancy (morphologic abnormality)" EXACT [] synonym: "melanotic neuroectodermal tumour (morphologic abnormality)" EXACT OMO:0003005 [] -synonym: "melanotic neuroectodermal tumour of infancy" EXACT OMO:0003005 [] +synonym: "melanotic neuroectodermal tumour of infancy" EXACT OMO:0003005 [DOID:166] synonym: "melanotic neuroectodermal tumour of infancy (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "melanotic Progonoma" EXACT [NCIT:C3717] synonym: "MNTI" EXACT ABBREVIATION [NCIT:C3717] synonym: "pigmented neuroectodermal tumor" EXACT [NCIT:C3717] -synonym: "pigmented neuroectodermal tumor of infancy" EXACT [DOID:166] +synonym: "pigmented neuroectodermal tumor of infancy" EXACT [] synonym: "pigmented neuroectodermal tumour" EXACT OMO:0003005 [] -synonym: "pigmented neuroectodermal tumour of infancy" EXACT OMO:0003005 [] +synonym: "pigmented neuroectodermal tumour of infancy" EXACT OMO:0003005 [DOID:166] synonym: "retinal anlage neoplasm" EXACT [NCIT:C3717] xref: DOID:166 {source="MONDO:equivalentTo"} xref: ICDO:9363/0 {source="NCIT:C3717"} @@ -34713,7 +34714,7 @@ synonym: "pineal cell tumour" RELATED OMO:0003005 [] synonym: "pineal germ cell neoplasm, malignant" EXACT [NCIT:C6767] synonym: "pineal germ cell tumor" EXACT [DOID:1660] synonym: "pineal germ cell tumour" EXACT OMO:0003005 [] -synonym: "pineal region germ cell tumor" EXACT [DOID:1660, NCIT:C4659] +synonym: "pineal region germ cell tumor" EXACT [DOID:1660] synonym: "pineal region germ cell tumour" EXACT OMO:0003005 [] synonym: "pineal region germinoma" RELATED [GARD:0012017] xref: DOID:1660 {source="MONDO:equivalentTo"} @@ -34742,7 +34743,7 @@ synonym: "arthropathy in Behcet's syndrome involving pelvic region and thigh" EX synonym: "arthropathy in Behcet's syndrome involving shoulder region" EXACT [DOID:1670] synonym: "arthropathy in Behcet's syndrome involving upper arm" EXACT [DOID:1670] synonym: "Behcet syndrome arthropathy" EXACT [DOID:1670] -synonym: "Behcet's syndrome arthropathy" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Behcet's syndrome arthropathy" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:1670, MONDO:LexicalVariant] xref: DOID:1670 {source="MONDO:equivalentTo"} xref: ICD9:711.2 {source="DOID:1670"} xref: ICD9:711.20 {source="DOID:1670", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -34776,7 +34777,7 @@ id: MONDO:0002076 name: pneumothorax def: "Abnormal presence of air in the pleural cavity." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "pneumothorax" EXACT [MONDO:ambiguous] +synonym: "pneumothorax" EXACT [DOID:1673, icd11.foundation:1946559257, MONDO:ambiguous, NCIT:C38006] synonym: "pneumothorax (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1673 {source="MONDO:equivalentTo"} xref: HP:0002107 {source="MONDO:otherHierarchy"} @@ -34815,12 +34816,12 @@ id: MONDO:0002078 name: heart septal defect def: "A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "Cardiac septal defects" EXACT [DOID:1681] +synonym: "Cardiac septal defects" EXACT [DOID:1681, NCIT:C84482] synonym: "congenital septal defect" EXACT [NCIT:C84482] synonym: "congenital septal defect of heart" EXACT [DOID:1681] synonym: "holes in the heart" EXACT [NCIT:C84482] synonym: "septal defect" EXACT [DOID:1681] -synonym: "septal defect NOS" RELATED EXCLUDE [DOID:1681] +synonym: "septal defect NOS" RELATED EXCLUDE [] xref: DOID:1681 {source="MONDO:equivalentTo"} xref: ICD10CM:Q21 {source="DOID:1681"} xref: ICD10CM:Q21.9 {source="DOID:1681"} @@ -34861,10 +34862,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare_grouping synonym: "disease of musculoskeletal system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of musculoskeletal system" EXACT [] -synonym: "disorder of musculoskeletal system" EXACT [MONDO:patterns/location_top] -synonym: "musculoskeletal disease" EXACT [DOID:17] +synonym: "disorder of musculoskeletal system" EXACT [MONDO:patterns/location_top, NCIT:C107377] +synonym: "musculoskeletal disease" EXACT [] synonym: "musculoskeletal disorder" RELATED [] -synonym: "musculoskeletal system disease" EXACT [MONDO:patterns/location] +synonym: "musculoskeletal system disease" EXACT [DOID:17, MONDO:patterns/location] synonym: "musculoskeletal system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "musculoskeletal system disorder" EXACT [NCIT:C107377] xref: DOID:17 {source="MONDO:equivalentTo"} @@ -34893,13 +34894,13 @@ subset: otar {source="MONDO:OTAR"} synonym: "endocrine gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "endocrine gland tumor" EXACT [MONDO:patterns/neoplasm] synonym: "endocrine gland tumour" EXACT OMO:0003005 [] -synonym: "endocrine neoplasm" EXACT [DOID:170, NCIT:C3010] +synonym: "endocrine neoplasm" EXACT [NCIT:C3010] synonym: "endocrine system neoplasm" EXACT [NCIT:C3010] synonym: "endocrine system tumor" EXACT [NCIT:C3010] synonym: "endocrine system tumour" EXACT OMO:0003005 [] -synonym: "endocrine tumor" EXACT [DOID:170, NCIT:C3010] +synonym: "endocrine tumor" EXACT [NCIT:C3010] synonym: "endocrine tumour" EXACT OMO:0003005 [] -synonym: "malignant endocrine tumor" NARROW [DOID:170] +synonym: "malignant endocrine tumor" NARROW [] synonym: "malignant endocrine tumour" NARROW OMO:0003005 [] synonym: "neoplasm of endocrine gland" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of endocrine gland" EXACT [MONDO:patterns/neoplasm] @@ -34923,9 +34924,9 @@ subset: gard_rare {source="GARD:7578", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Richter syndrome" EXACT [DOID:1703, NCIT:C35424] -synonym: "Richter transformation" EXACT [NCIT:C35424] -synonym: "Richter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C35424] +synonym: "Richter syndrome" EXACT [DOID:1703, icd11.foundation:1736108343, NCIT:C35424] +synonym: "Richter transformation" EXACT [] +synonym: "Richter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:1703, MONDO:LexicalVariant, NCIT:C35424] synonym: "Richter's transformation" EXACT [NCIT:C35424] xref: DOID:1703 {source="MONDO:equivalentTo"} xref: GARD:7578 {source="MONDO:GARD"} @@ -34960,9 +34961,9 @@ is_a: MONDO:0005395 {source="DOID:1713"} ! movement disorder id: MONDO:0002086 name: clear cell acanthoma def: "An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm." [NCIT:P378] -synonym: "clear cell acanthoma (morphologic abnormality)" EXACT [DOID:172] +synonym: "clear cell acanthoma (morphologic abnormality)" EXACT [] synonym: "Degos acanthoma" EXACT [NCIT:C97041] -synonym: "pale (clear cell) acanthoma" EXACT [DOID:172, NCIT:C4085] +synonym: "pale (clear cell) acanthoma" EXACT [DOID:172, NCIT:C97041] xref: DOID:172 {source="MONDO:equivalentTo"} xref: icd11.foundation:1582724858 {source="MONDO:equivalentTo"} xref: MEDGEN:83098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -34980,7 +34981,7 @@ id: MONDO:0002087 name: peritoneum cancer def: "A malignant neoplasm involving the peritoneum" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of peritoneum" EXACT [DOID:1725, MONDO:patterns/cancer] +synonym: "cancer of peritoneum" EXACT [MONDO:patterns/cancer, NCIT:C3538] synonym: "cancer of the peritoneum" EXACT [NCIT:C3538] synonym: "malignant neoplasm of peritoneum" EXACT [MONDO:patterns/cancer] synonym: "malignant peritoneal neoplasm" EXACT [NCIT:C3538] @@ -34988,7 +34989,7 @@ synonym: "malignant peritoneum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "peritoneal cancer" EXACT [NCIT:C3538] synonym: "peritoneal cavity cancer" EXACT [NCIT:C3538] synonym: "peritoneal neoplasm" RELATED [DOID:1725] -synonym: "peritoneum cancer" EXACT [MONDO:patterns/location] +synonym: "peritoneum cancer" EXACT [DOID:1725, MONDO:patterns/location] xref: DOID:1725 {source="MONDO:equivalentTo"} xref: ICD10CM:C48.1 {source="DOID:1725"} xref: ICD9:158.8 {source="DOID:1725"} @@ -35023,9 +35024,9 @@ id: MONDO:0002089 name: retinal vascular occlusion def: "An occlusion of the retinal vasculature." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "retinal vasc. occlusion" RELATED EXCLUDE [DOID:1729] +synonym: "retinal vasc. occlusion" RELATED EXCLUDE [] synonym: "retinal vascular occlusion" EXACT [DOID:1729, NCIT:C34980] -synonym: "retinal vascular occlusion, unspecified" EXACT [DOID:1729, ICD9CM:362.30] +synonym: "retinal vascular occlusion, unspecified" EXACT [ICD9CM:362.30] xref: DOID:1729 {source="MONDO:equivalentTo"} xref: ICD10CM:H34 {source="DOID:1729", source="MONDO:equivalentTo"} xref: ICD10CM:H34.9 {source="DOID:1729"} @@ -35094,7 +35095,7 @@ synonym: "leiomyoma, small bowel" EXACT [DOID:1738, NCIT:C7725] synonym: "leiomyoma, small intestine" EXACT [NCIT:C7725] synonym: "small bowel leiomyoma" EXACT [NCIT:C7725] synonym: "small intestinal leiomyoma" EXACT [NCIT:C7725] -synonym: "small intestine leiomyoma" EXACT [MONDO:patterns/location, NCIT:C7725] +synonym: "small intestine leiomyoma" EXACT [DOID:1738, MONDO:patterns/location, NCIT:C7725] xref: DOID:1738 {source="MONDO:equivalentTo"} xref: MEDGEN:68660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7725 {source="MONDO:equivalentTo", source="DOID:1738"} @@ -35112,7 +35113,7 @@ id: MONDO:0002093 name: acanthoma def: "A benign skin neoplasm composed of epithelial cells." [NCIT:C7419] subset: otar {source="MONDO:OTAR"} -synonym: "acanthoma" EXACT [MONDO:ambiguous, NCIT:C7419] +synonym: "acanthoma" EXACT [DOID:174, MONDO:ambiguous, NCIT:C7419] synonym: "acanthoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:174 {source="MONDO:equivalentTo"} xref: HP:0025432 {source="MONDO:otherHierarchy"} @@ -35137,42 +35138,42 @@ def: "A malignant neoplasm arising from the blood vessels." [NCIT:C8538] comment: Editor note: see also NCIT:C7390 subset: ordo_group_of_disorders {source="Orphanet:673466"} subset: otar {source="MONDO:OTAR"} -synonym: "blood vessel neoplasm" BROAD [DOID:175, NCIT:C7387] -synonym: "blood vessel tumor" BROAD [DOID:175] -synonym: "blood vessel tumor (morphologic abnormality)" BROAD [DOID:175] -synonym: "blood vessel tumor disorder" BROAD [DOID:175] -synonym: "blood vessel tumors" BROAD [DOID:175] -synonym: "blood vessel tumors (morphologic abnormality)" BROAD [DOID:175] +synonym: "blood vessel neoplasm" BROAD [] +synonym: "blood vessel tumor" BROAD [] +synonym: "blood vessel tumor (morphologic abnormality)" BROAD [] +synonym: "blood vessel tumor disorder" BROAD [] +synonym: "blood vessel tumors" BROAD [] +synonym: "blood vessel tumors (morphologic abnormality)" BROAD [] synonym: "blood vessel tumour" BROAD OMO:0003005 [] synonym: "blood vessel tumour (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "blood vessel tumour disorder" BROAD OMO:0003005 [] synonym: "blood vessel tumours" BROAD OMO:0003005 [] synonym: "blood vessel tumours (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "cancer of vasculature" EXACT [MONDO:patterns/cancer] -synonym: "Haemangiomatous tumor" BROAD [DOID:175] +synonym: "Haemangiomatous tumor" BROAD [] synonym: "Haemangiomatous tumour" BROAD OMO:0003005 [] -synonym: "leiomyosarcoma of the renal vein" NARROW [DOID:175, NCIT:C5388] +synonym: "leiomyosarcoma of the renal vein" NARROW [] synonym: "malignant blood vessel neoplasm" EXACT [NCIT:C8538] synonym: "malignant blood vessel tumor" EXACT [NCIT:C8538] synonym: "malignant blood vessel tumour" EXACT OMO:0003005 [] -synonym: "malignant great vessel tumor" RELATED EXCLUDE [DOID:175] +synonym: "malignant great vessel tumor" RELATED EXCLUDE [] synonym: "malignant great vessel tumour" RELATED OMO:0003005 [] synonym: "malignant neoplasm of vasculature" EXACT [MONDO:patterns/cancer] -synonym: "malignant tumor of pulmonary artery" NARROW [DOID:175, NCIT:C5380] -synonym: "malignant tumor of pulmonary vein" NARROW [DOID:175, NCIT:C5383] +synonym: "malignant tumor of pulmonary artery" NARROW [] +synonym: "malignant tumor of pulmonary vein" NARROW [] synonym: "malignant tumour of pulmonary artery" NARROW OMO:0003005 [] synonym: "malignant tumour of pulmonary vein" NARROW OMO:0003005 [] synonym: "malignant vascular neoplasm" EXACT [DOID:175] -synonym: "malignant vascular tumor" EXACT [DOID:175, NCIT:C7390] +synonym: "malignant vascular tumor" EXACT [DOID:175, Orphanet:673466] synonym: "malignant vascular tumour" EXACT OMO:0003005 [] synonym: "malignant vasculature neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "neoplasm of great vessel" BROAD [DOID:175] +synonym: "neoplasm of great vessel" BROAD [] synonym: "pulmonary artery cancer" EXACT [MONDO:patterns/location] synonym: "pulmonary artery malignant neoplasm" EXACT [DOID:175] synonym: "pulmonary vein malignant neoplasm" EXACT [DOID:175] -synonym: "renal vein leiomyosarcoma" RELATED [DOID:175] -synonym: "vascular tissue neoplasm" RELATED [DOID:175] -synonym: "vascular tumors" BROAD [DOID:175, NCIT:C7388] +synonym: "renal vein leiomyosarcoma" RELATED [] +synonym: "vascular tissue neoplasm" RELATED [] +synonym: "vascular tumors" BROAD [] synonym: "vascular tumours" BROAD OMO:0003005 [] synonym: "vasculature cancer" EXACT [] xref: DOID:175 {source="MONDO:equivalentTo"} @@ -35209,11 +35210,11 @@ subset: rare synonym: "CM" RELATED ABBREVIATION [ONCOTREE:CM] synonym: "conjunctiva melanoma" EXACT [NCIT:C4550] synonym: "conjunctiva melanoma (disease)" EXACT [MONDO:patterns/location] -synonym: "conjunctival malignant melanoma" EXACT [MONDO:0002096] -synonym: "conjunctival melanoma" EXACT [NCIT:C4550] +synonym: "conjunctival malignant melanoma" EXACT [MONDO:0002096, Orphanet:617910] +synonym: "conjunctival melanoma" EXACT [DOID:1751, NCIT:C4550, Orphanet:617910] synonym: "malignant conjunctiva melanoma" EXACT [NCIT:C4550] -synonym: "malignant conjunctival melanoma" EXACT [NCIT:C4550] -synonym: "malignant melanoma of conjunctiva" EXACT [NCIT:C4550] +synonym: "malignant conjunctival melanoma" EXACT [DOID:1751, NCIT:C4550] +synonym: "malignant melanoma of conjunctiva" EXACT [DOID:1751, NCIT:C4550] synonym: "malignant melanoma of the conjunctiva" EXACT [NCIT:C4550] synonym: "melanoma (disease) of conjunctiva" EXACT [] synonym: "melanoma of conjunctiva" EXACT [NCIT:C4550] @@ -35249,9 +35250,9 @@ synonym: "disorder of facial nerve" EXACT [MONDO:patterns/location_top] synonym: "disorder of seventh cranial nerve" RELATED [] synonym: "disorders of the seventh nerve" RELATED [] synonym: "disorders of the VIIth cranial nerve" RELATED [] -synonym: "facial nerve disease" EXACT [MONDO:patterns/location] +synonym: "facial nerve disease" EXACT [DOID:1756, MONDO:patterns/location] synonym: "facial nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "facial nerve disorder" EXACT [] +synonym: "facial nerve disorder" EXACT [NCIT:C27594] synonym: "facial neuropathy" RELATED [] xref: DOID:1756 {source="MONDO:equivalentTo"} xref: EFO:1002051 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -35307,7 +35308,7 @@ name: cardiovascular cancer def: "A primary or metastatic malignant neoplasm involving the cardiovascular system." [NCIT:C114940] subset: otar {source="MONDO:OTAR"} synonym: "cancer of cardiovascular system" EXACT [MONDO:patterns/cancer] -synonym: "cardiovascular neoplasm" BROAD [DOID:176] +synonym: "cardiovascular neoplasm" BROAD [] synonym: "cardiovascular system cancer" EXACT [] synonym: "cardiovascular tumors" EXACT [DOID:176] synonym: "cardiovascular tumours" EXACT OMO:0003005 [] @@ -35328,15 +35329,15 @@ intersection_of: disease_has_location UBERON:0004535 ! cardiovascular system id: MONDO:0002101 name: facial nerve neoplasm def: "A neoplasm involving a facial nerve." [MONDO:patterns/neoplasm] -synonym: "facial nerve neoplasm" EXACT [NCIT:C5827] +synonym: "facial nerve neoplasm" EXACT [DOID:1760, NCIT:C5827] synonym: "facial nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "facial nerve neoplasms" EXACT [NCIT:C5827] synonym: "facial nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5827] synonym: "facial nerve tumors" EXACT [NCIT:C5827] synonym: "facial nerve tumour" EXACT OMO:0003005 [] synonym: "facial nerve tumours" EXACT OMO:0003005 [] -synonym: "neoplasm of Facial nerve" EXACT [NCIT:C5827] -synonym: "neoplasm of facial nerve" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of Facial nerve" EXACT [DOID:1760, NCIT:C5827] +synonym: "neoplasm of facial nerve" EXACT [DOID:1760, MONDO:patterns/neoplasm, NCIT:C5827] synonym: "neoplasm of seventh cranial nerve" EXACT [NCIT:C5827] synonym: "neoplasm of the Facial nerve" EXACT [NCIT:C5827] synonym: "neoplasm of the seventh cranial nerve" EXACT [NCIT:C5827] @@ -35347,7 +35348,7 @@ synonym: "seventh cranial nerve tumors" EXACT [NCIT:C5827] synonym: "seventh cranial nerve tumour" EXACT OMO:0003005 [] synonym: "seventh cranial nerve tumours" EXACT OMO:0003005 [] synonym: "tumor of Facial nerve" EXACT [DOID:1760, NCIT:C5827] -synonym: "tumor of facial nerve" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of facial nerve" EXACT [DOID:1760, MONDO:patterns/neoplasm, NCIT:C5827] synonym: "tumor of seventh cranial nerve" EXACT [NCIT:C5827] synonym: "tumor of the Facial nerve" EXACT [NCIT:C5827] synonym: "tumor of the seventh cranial nerve" EXACT [NCIT:C5827] @@ -35495,15 +35496,15 @@ synonym: "malignant thyroid tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the thyroid" EXACT [NCIT:C7510] synonym: "malignant tumor of the thyroid gland" EXACT [NCIT:C7510] synonym: "malignant tumor of thyroid" EXACT [NCIT:C7510] -synonym: "malignant tumor of thyroid gland" EXACT [DOID:1781, NCIT:C7510] +synonym: "malignant tumor of thyroid gland" EXACT [NCIT:C7510] synonym: "malignant tumour of the thyroid" EXACT OMO:0003005 [] synonym: "malignant tumour of the thyroid gland" EXACT OMO:0003005 [] synonym: "malignant tumour of thyroid" EXACT OMO:0003005 [] -synonym: "malignant tumour of thyroid gland" EXACT OMO:0003005 [] -synonym: "neoplasm of thyroid gland" BROAD [DOID:1781] -synonym: "thyroid gland cancer" EXACT [MONDO:patterns/location] -synonym: "thyroid gland neoplasm" BROAD [DOID:1781] -synonym: "thyroid neoplasm" BROAD EXCLUDE [DOID:1781] +synonym: "malignant tumour of thyroid gland" EXACT OMO:0003005 [DOID:1781] +synonym: "neoplasm of thyroid gland" BROAD [] +synonym: "thyroid gland cancer" EXACT [DOID:1781, MONDO:patterns/location] +synonym: "thyroid gland neoplasm" BROAD [] +synonym: "thyroid neoplasm" BROAD EXCLUDE [] xref: DOID:1781 {source="MONDO:equivalentTo"} xref: ICD10CM:C73 {source="DOID:1781"} xref: ICD10CM:C73-C75 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -35542,18 +35543,18 @@ synonym: "malignant pituitary neoplasm" EXACT [DOID:1785, NCIT:C4769] synonym: "malignant pituitary tumor" EXACT [NCIT:C4769] synonym: "malignant pituitary tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of pituitary" EXACT [NCIT:C4769] -synonym: "malignant tumor of pituitary gland" EXACT [NCIT:C4769] +synonym: "malignant tumor of pituitary gland" EXACT [DOID:1785, NCIT:C4769] synonym: "malignant tumor of the pituitary" EXACT [NCIT:C4769] synonym: "malignant tumor of the pituitary gland" EXACT [NCIT:C4769] synonym: "malignant tumour of pituitary" EXACT OMO:0003005 [] synonym: "malignant tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the pituitary" EXACT OMO:0003005 [] synonym: "malignant tumour of the pituitary gland" EXACT OMO:0003005 [] -synonym: "neoplasm of pituitary gland" RELATED EXCLUDE [DOID:1785] -synonym: "pituitary cancer" EXACT [] +synonym: "neoplasm of pituitary gland" RELATED EXCLUDE [] +synonym: "pituitary cancer" EXACT [DOID:1785] synonym: "pituitary gland cancer" EXACT [DOID:1785] -synonym: "pituitary gland neoplasm" BROAD [DOID:1785, NCIT:C3330] -synonym: "pituitary neoplasm" BROAD [DOID:1785] +synonym: "pituitary gland neoplasm" BROAD [] +synonym: "pituitary neoplasm" BROAD [] synonym: "pituitary neoplasms, malignant" EXACT [NCIT:C4769] synonym: "pituitary tumor, malignant" EXACT [NCIT:C4769] xref: DOID:1785 {source="MONDO:equivalentTo"} @@ -35579,7 +35580,7 @@ id: MONDO:0002110 name: adrenal rest tumor def: "A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia." [NCIT:P378] synonym: "adrenal rest neoplasm" EXACT [DOID:1786, NCIT:C2860] -synonym: "adrenal rest tumor" EXACT [NCIT:C2860] +synonym: "adrenal rest tumor" EXACT [DOID:1786, NCIT:C2860] xref: DOID:1786 {source="MONDO:equivalentTo"} xref: ICDO:8671/0 {source="NCIT:C2860"} xref: MEDGEN:7902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -35600,7 +35601,7 @@ replaced_by: MONDO:0006362 id: MONDO:0002112 name: benign peritoneal mesothelioma def: "A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent." [NCIT:C7354] -synonym: "mesothelioma of peritoneum" BROAD [DOID:1789, NCIT:C7633] +synonym: "mesothelioma of peritoneum" BROAD [] synonym: "peritoneal adenomatoid tumor" EXACT [NCIT:C7354] synonym: "peritoneal adenomatoid tumour" EXACT OMO:0003005 [] synonym: "peritoneum benign mesothelioma" EXACT [MONDO:patterns/location] @@ -35621,7 +35622,7 @@ def: "A peritoneum cancer that is located in the inside of the abdomen." [DOID:1 subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of peritoneum" EXACT [MONDO:patterns/carcinoma] synonym: "peritoneum carcinoma" EXACT [MONDO:patterns/location] -synonym: "primary peritoneal carcinoma" NARROW [DOID:1791] +synonym: "primary peritoneal carcinoma" NARROW [] xref: DOID:1791 {source="MONDO:equivalentTo"} xref: MEDGEN:756216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40022 {source="DOID:1791", source="MONDO:relatedTo"} @@ -35641,7 +35642,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "lymphoma of pancreas" EXACT [DOID:1792, NCIT:C5714] synonym: "lymphoma of the pancreas" EXACT [NCIT:C5714] -synonym: "pancreas lymphoma" EXACT [MONDO:patterns/location] +synonym: "pancreas lymphoma" EXACT [DOID:1792, MONDO:patterns/location] synonym: "pancreatic lymphoma" EXACT [NCIT:C5714] xref: DOID:1792 {source="MONDO:equivalentTo"} xref: MEDGEN:233304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -35666,18 +35667,18 @@ def: "A malignant neoplasm that arises from the epithelial cells of the exocrine subset: otar {source="MONDO:OTAR"} synonym: "cancer of exocrine pancreas" EXACT [MONDO:patterns/cancer] synonym: "exocrine pancreas cancer" EXACT [MONDO:patterns/location] -synonym: "malignant exocrine pancreas neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7430] +synonym: "malignant exocrine pancreas neoplasm" EXACT [DOID:1795, MONDO:patterns/cancer, NCIT:C7430] synonym: "malignant exocrine pancreas tumor" EXACT [NCIT:C7430] synonym: "malignant exocrine pancreas tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of exocrine pancreas" EXACT [MONDO:patterns/cancer, NCIT:C7430] synonym: "malignant neoplasm of the exocrine pancreas" EXACT [DOID:1795, NCIT:C7430] synonym: "malignant tumor of exocrine pancreas" EXACT [DOID:1795, NCIT:C7430] synonym: "malignant tumor of the exocrine pancreas" EXACT [NCIT:C7430] -synonym: "malignant tumour of exocrine pancreas" EXACT OMO:0003005 [] +synonym: "malignant tumour of exocrine pancreas" EXACT OMO:0003005 [DOID:1795] synonym: "malignant tumour of the exocrine pancreas" EXACT OMO:0003005 [] -synonym: "pancreatic exocrine tumor" BROAD [DOID:1795] +synonym: "pancreatic exocrine tumor" BROAD [] synonym: "pancreatic exocrine tumour" BROAD OMO:0003005 [] -synonym: "tumor of exocrine pancreas" RELATED [DOID:1795] +synonym: "tumor of exocrine pancreas" RELATED [] synonym: "tumour of exocrine pancreas" RELATED OMO:0003005 [] xref: DOID:1795 {source="MONDO:equivalentTo"} xref: MEDGEN:91108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -35696,7 +35697,7 @@ name: pancreas sarcoma def: "A rare malignant soft tissue neoplasm that occurs primarily in the pancreas." [NCIT:C5715] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "pancreas sarcoma" EXACT [MONDO:patterns/location] +synonym: "pancreas sarcoma" EXACT [DOID:1796, MONDO:patterns/location] synonym: "pancreatic sarcoma" EXACT [NCIT:C5715] synonym: "sarcoma of pancreas" EXACT [DOID:1796, MONDO:patterns/sarcoma, NCIT:C5715] synonym: "sarcoma of the pancreas" EXACT [NCIT:C5715] @@ -35727,13 +35728,13 @@ synonym: "diseases, urological" EXACT [MESH:D014570] synonym: "disorder of renal system" EXACT [MONDO:patterns/location_top] synonym: "disorder of the urinary system" EXACT [] synonym: "disorder of urinary system" EXACT [NCIT:C3430] -synonym: "non-neoplastic urinary tract disease" EXACT [DOID:18, NCIT:C27599] -synonym: "renal disease" RELATED EXCLUDE [DOID:18] +synonym: "non-neoplastic urinary tract disease" EXACT [DOID:18] +synonym: "renal disease" RELATED EXCLUDE [] synonym: "renal system disease" EXACT [MONDO:patterns/location] synonym: "renal system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "urinary disease" EXACT [DOID:18] -synonym: "urinary system disease" EXACT [] -synonym: "urinary system disorder" EXACT [] +synonym: "urinary disease" EXACT [] +synonym: "urinary system disease" EXACT [DOID:18] +synonym: "urinary system disorder" EXACT [NCIT:C3430] synonym: "urinary tract disease" EXACT [DOID:18, MESH:D014570] synonym: "urinary tract diseases" EXACT [MESH:D014570] synonym: "urinary tract disorder" EXACT [NCIT:C3430] @@ -35742,7 +35743,7 @@ synonym: "urologic disorder" EXACT [NCIT:C3430] synonym: "urological disease" EXACT [MESH:D014570] synonym: "urological diseases" EXACT [MESH:D014570] synonym: "urological disorder" EXACT [] -synonym: "urological disorders" EXACT [NCIT:C3430] +synonym: "urological disorders" EXACT [] xref: DOID:18 {source="MONDO:equivalentTo"} xref: EFO:0009690 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:N30-N39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -35766,10 +35767,10 @@ subset: rare synonym: "Cementifying fibroma" EXACT [NCIT:C8422] synonym: "cemento-ossifying fibroma" EXACT [NCIT:C8422] synonym: "fibro-osteoma" EXACT [DOID:180] -synonym: "fibroma, ossifying, benign" EXACT [NCIT:C8422] +synonym: "fibroma, ossifying, benign" EXACT [] synonym: "Juvenile Ossifying Fibroma" NARROW [NORD:111729] synonym: "juvenile ossifying fibroma" NARROW [GARD:0012792] -synonym: "ossifying fibroma" EXACT [MONDO:ambiguous] +synonym: "ossifying fibroma" EXACT [DOID:180, MONDO:ambiguous, NCIT:C173820] synonym: "ossifying fibroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "peripheral ossifying fibroma" RELATED [DOID:180] xref: DOID:180 {source="MONDO:equivalentTo"} @@ -35800,8 +35801,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "NEC" EXACT ABBREVIATION [NCIT:C3773] synonym: "neuroendocrine cancer" EXACT [NCIT:C3773] -synonym: "neuroendocrine cancer, NOS" RELATED EXCLUDE [NCIT:C3773] -synonym: "neuroendocrine carcinoma" EXACT [NCIT:C3773] +synonym: "neuroendocrine cancer, NOS" RELATED EXCLUDE [] +synonym: "neuroendocrine carcinoma" EXACT [DOID:1800, NCIT:C3773] xref: DOID:1800 {source="MONDO:equivalentTo"} xref: ICDO:8246/3 {source="NCIT:C3773"} xref: MEDGEN:104919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -35823,7 +35824,7 @@ name: mononeuritis simplex def: "Neuritis of a single nerve." [https://orcid.org/0000-0002-6601-2165] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mononeuritis" EXACT [] +synonym: "mononeuritis" EXACT [DOID:1802] xref: DOID:1802 {source="MONDO:equivalentTo"} xref: ICD9:355.9 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1802"} xref: MEDGEN:65914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -35864,11 +35865,11 @@ name: calcinosis def: "Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "calcification" EXACT [NCIT:C3672] -synonym: "calcium deposit(s)" EXACT [NCIT:C3672] -synonym: "deposit(s), calcium" EXACT [NCIT:C3672] -synonym: "macrocalcification" EXACT [NCIT:C3672] -synonym: "pathologic calcification" EXACT [DOID:182] -synonym: "pathologically calcified structure" EXACT [DOID:182] +synonym: "calcium deposit(s)" EXACT [] +synonym: "deposit(s), calcium" EXACT [] +synonym: "macrocalcification" EXACT [] +synonym: "pathologic calcification" EXACT [DOID:182, icd11.foundation:1374802956] +synonym: "pathologically calcified structure" EXACT [DOID:182, icd11.foundation:1374802956] xref: DOID:182 {source="MONDO:equivalentTo"} xref: HP:0003761 {source="MONDO:otherHierarchy"} xref: icd11.foundation:1374802956 {source="MONDO:equivalentTo"} @@ -35887,7 +35888,7 @@ id: MONDO:0002124 name: secondary lacrimal atrophy synonym: "consecutive atrophy of lacrimal gland" RELATED [] synonym: "secondary atrophy of lacrimal gland" RELATED [] -synonym: "secondary lacrimal atrophy" EXACT [] +synonym: "secondary lacrimal atrophy" EXACT [DOID:1822] xref: DOID:1822 {source="MONDO:equivalentTo"} xref: ICD10CM:H04.15 {source="DOID:1822"} xref: ICD9:375.14 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:1822"} @@ -35933,7 +35934,7 @@ replaced_by: MONDO:0010826 id: MONDO:0002127 name: urethral stricture def: "Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms." [MESH:D014525] -synonym: "urethral stricture" EXACT [MONDO:ambiguous] +synonym: "urethral stricture" EXACT [DOID:1829, icd11.foundation:611219038, MONDO:ambiguous, NCIT:C79821] synonym: "urethral stricture (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1829 {source="MONDO:equivalentTo"} xref: HP:0012227 {source="MONDO:otherHierarchy"} @@ -35954,7 +35955,7 @@ name: mononeuritis multiplex def: "A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome." [NCIT:C70938] subset: gard_rare {source="GARD:7056", source="MONDO:GARD"} subset: rare -synonym: "mononeuritis multiplex" EXACT [DOID:1835, ICD9CM:354.5, NCIT:C70938] +synonym: "mononeuritis multiplex" EXACT [DOID:1835, ICD10CM:G58.7, icd11.foundation:1838368265, ICD9CM:354.5, NCIT:C70938] xref: DOID:1835 {source="MONDO:equivalentTo"} xref: GARD:7056 {source="MONDO:GARD"} xref: ICD10CM:G58.7 {source="MONDO:equivalentTo", source="DOID:1835"} @@ -35975,18 +35976,18 @@ def: "A primary or metastatic malignant neoplasm affecting the bone or articular subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone cancer" EXACT [NCIT:C4016] -synonym: "bone cancer, NOS" RELATED EXCLUDE [NCIT:C4016] -synonym: "bone neoplasm" BROAD [DOID:184] -synonym: "bone tumor" BROAD [DOID:184] +synonym: "bone cancer" EXACT [DOID:184, NCIT:C4016] +synonym: "bone cancer, NOS" RELATED EXCLUDE [] +synonym: "bone neoplasm" BROAD [] +synonym: "bone tumor" BROAD [] synonym: "bone tumour" BROAD OMO:0003005 [] synonym: "CA - bone cancer" EXACT [DOID:184] synonym: "cancer of bone" EXACT [NCIT:C4016] synonym: "cancer of skeletal element" EXACT [MONDO:patterns/cancer] synonym: "cancer of the bone" EXACT [NCIT:C4016] synonym: "malignant bone neoplasm" EXACT [DOID:184, NCIT:C4016] -synonym: "malignant bone tumor" EXACT [DOID:184, NCIT:C4016] -synonym: "malignant bone tumour" EXACT OMO:0003005 [] +synonym: "malignant bone tumor" EXACT [NCIT:C4016] +synonym: "malignant bone tumour" EXACT OMO:0003005 [DOID:184] synonym: "malignant neoplasm of bone" EXACT [DOID:184, NCIT:C4016] synonym: "malignant neoplasm of skeletal element" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the bone" EXACT [NCIT:C4016] @@ -35998,9 +35999,9 @@ synonym: "malignant tumor of bone" EXACT [NCIT:C4016] synonym: "malignant tumor of the bone" EXACT [NCIT:C4016] synonym: "malignant tumour of bone" EXACT OMO:0003005 [] synonym: "malignant tumour of the bone" EXACT OMO:0003005 [] -synonym: "neoplasm of bone" BROAD EXCLUDE [DOID:184] +synonym: "neoplasm of bone" BROAD EXCLUDE [] synonym: "osseous cancer" EXACT [NCIT:C4016] -synonym: "osseous tumor" BROAD [DOID:184, NCIT:C9343] +synonym: "osseous tumor" BROAD [] synonym: "osseous tumour" BROAD OMO:0003005 [] synonym: "skeletal element cancer" EXACT [MONDO:patterns/location] xref: CSP:2019-1041 {source="DOID:184"} @@ -36028,7 +36029,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "forelimb mononeuritis simplex" EXACT [MONDO:patterns/location] synonym: "mononeuritis of upper limb" EXACT [DOID:1844] -synonym: "mononeuritis of upper limb, unspecified" EXACT [DOID:1844, ICD9CM:354.9] +synonym: "mononeuritis of upper limb, unspecified" EXACT [ICD9CM:354.9] synonym: "mononeuritis simplex of forelimb" EXACT [MONDO:design_pattern] synonym: "mononeuritis upper limb" EXACT [DOID:1844] xref: DOID:1844 {source="MONDO:equivalentTo"} @@ -36046,11 +36047,11 @@ def: "A malignant neoplasm involving the jaw skeleton" [https://orcid.org/0000-0 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cancer of jaw skeleton" EXACT [MONDO:patterns/cancer] -synonym: "jaw neoplasm" BROAD [DOID:1862] +synonym: "jaw neoplasm" BROAD [] synonym: "jaw skeleton cancer" EXACT [MONDO:patterns/location] synonym: "malignant jaw skeleton neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of jaw skeleton" EXACT [MONDO:patterns/cancer] -synonym: "neoplasm of jaw" BROAD [DOID:1862] +synonym: "neoplasm of jaw" BROAD [] xref: DOID:1862 {source="MONDO:equivalentTo"} xref: MEDGEN:155838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D007573 {source="MONDO:equivalentTo", source="DOID:1862"} @@ -36068,8 +36069,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cancer of skull" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of skull" EXACT [MONDO:patterns/cancer] -synonym: "malignant skull neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "skull cancer" EXACT [MONDO:patterns/location] +synonym: "malignant skull neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C155790] +synonym: "skull cancer" EXACT [DOID:1863, MONDO:patterns/location] xref: DOID:1863 {source="MONDO:equivalentTo"} xref: MEDGEN:1662558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D012888 {source="DOID:1863"} @@ -36113,7 +36114,7 @@ synonym: "physiological sexual dysfunctions" RELATED [MESH:D012735] synonym: "Sex disorders" BROAD [MESH:D012735] synonym: "sexual disorder, physiological" RELATED [MESH:D012735] synonym: "sexual disorders, physiological" RELATED [MESH:D012735] -synonym: "sexual dysfunction" BROAD [DOID:1876] +synonym: "sexual dysfunction" BROAD [] synonym: "sexual dysfunctions, physiological" RELATED [MESH:D012735] xref: DOID:1876 {source="MONDO:equivalentTo"} xref: ICD10CM:F52.9 {source="DOID:1876"} @@ -36221,7 +36222,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "sarcoma of the vagina" EXACT [DOID:1901, NCIT:C7737] synonym: "sarcoma of vagina" EXACT [MONDO:patterns/sarcoma, NCIT:C7737] -synonym: "vagina sarcoma" EXACT [MONDO:patterns/location, NCIT:C7737] +synonym: "vagina sarcoma" EXACT [DOID:1901, MONDO:patterns/location, NCIT:C7737] synonym: "vaginal sarcoma" EXACT [NCIT:C7737] xref: DOID:1901 {source="MONDO:equivalentTo"} xref: MEDGEN:65971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -36241,16 +36242,16 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cutaneous malignant fibrous histiocytoma" EXACT [NCIT:C5576] synonym: "cutaneous unclassified pleomorphic sarcoma" EXACT [NCIT:C5576] -synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"malignant fibrous histiocytoma\")" EXACT [NCIT:C5576] -synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"MFH\")" EXACT [NCIT:C5576] -synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)" EXACT [NCIT:C5576] +synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"malignant fibrous histiocytoma\")" EXACT [] +synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous \"MFH\")" EXACT [] +synonym: "cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)" EXACT [] synonym: "cutaneous undifferentiated pleomorphic sarcoma" EXACT [NCIT:C5576] synonym: "malignant cutaneous fibrous histiocytoma" EXACT [NCIT:C5576] -synonym: "malignant fibrous histiocytoma of skin" EXACT [NCIT:C5576] +synonym: "malignant fibrous histiocytoma of skin" EXACT [DOID:1906, NCIT:C5576] synonym: "malignant fibrous histiocytoma of the skin" EXACT [NCIT:C5576] -synonym: "malignant skin fibrous histiocytoma" EXACT [NCIT:C5576] +synonym: "malignant skin fibrous histiocytoma" EXACT [DOID:1906, NCIT:C5576] synonym: "undifferentiated pleomorphic sarcoma of zone of skin" EXACT [MONDO:design_pattern] -synonym: "vaginal melanoma" RELATED EXCLUDE [DOID:1906] +synonym: "vaginal melanoma" RELATED EXCLUDE [] synonym: "zone of skin undifferentiated pleomorphic sarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:1906 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -36276,17 +36277,17 @@ subset: orphanet_rare {source="Orphanet:2023"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adult malignant fibrous histiocytoma" EXACT [NCIT:C114541] -synonym: "adult unclassified pleomorphic sarcoma" EXACT [NCIT:C114541] +synonym: "adult unclassified pleomorphic sarcoma" EXACT [] synonym: "adult undifferentiated pleomorphic sarcoma" EXACT [NCIT:C114541] -synonym: "fibrous histiocytoma, malignant" EXACT [DOID:1907] -synonym: "fibrous histiocytoma, malignant (morphologic abnormality)" EXACT [DOID:1907] +synonym: "fibrous histiocytoma, malignant" EXACT [] +synonym: "fibrous histiocytoma, malignant (morphologic abnormality)" EXACT [] synonym: "fibroxanthosarcoma" EXACT [DOID:1907, NCIT:C4247] -synonym: "fibroxanthosarcoma (morphologic abnormality)" EXACT [DOID:1907] +synonym: "fibroxanthosarcoma (morphologic abnormality)" EXACT [] synonym: "histiocytoma, fibrous, malignant" EXACT [NCIT:C4247] synonym: "malignant fibrohistiocytic tumors" RELATED [GARD:0006963] synonym: "malignant fibrohistiocytic tumours" RELATED OMO:0003005 [] -synonym: "malignant fibrous cytoma" EXACT [NCIT:C4247] -synonym: "malignant fibrous histiocytoma" EXACT [GARD:0006963, NCIT:C4247] +synonym: "malignant fibrous cytoma" EXACT [] +synonym: "malignant fibrous histiocytoma" EXACT [DOID:1907, GARD:0006963, NCIT:C4247] synonym: "malignant fibrous histiocytoma of soft tissue and bone" EXACT [NCIT:C4247] synonym: "malignant fibrous histiocytoma of the soft tissue and bone" EXACT [NCIT:C4247] synonym: "malignant fibroxanthoma" EXACT [NCIT:C4247] @@ -36295,9 +36296,9 @@ synonym: "Storiform-pleomorphic fibrous histiocytoma" EXACT [NCIT:C4247] synonym: "Storiform-pleomorphic malignant fibrous histiocytoma" EXACT [NCIT:C4247] synonym: "Storiform-pleomorphic MFH" EXACT [NCIT:C4247] synonym: "unclassified pleomorphic sarcoma" EXACT [NCIT:C4247] -synonym: "Unclassified Pleomorphic sarcoma (formerly \"malignant fibrous histiocytoma\")" EXACT [NCIT:C4247] -synonym: "Unclassified Pleomorphic sarcoma (formerly \"MFH\")" EXACT [NCIT:C4247] -synonym: "undifferentiated pleomorphic sarcoma" EXACT [NCIT:C4247] +synonym: "Unclassified Pleomorphic sarcoma (formerly \"malignant fibrous histiocytoma\")" EXACT [] +synonym: "Unclassified Pleomorphic sarcoma (formerly \"MFH\")" EXACT [] +synonym: "undifferentiated pleomorphic sarcoma" EXACT [NCIT:C114541, NCIT:C4247, Orphanet:2023] synonym: "undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma" RELATED [ONCOTREE:MFH] synonym: "undifferentiated pleomorphic soft tissue sarcoma" EXACT [NCIT:C4247] synonym: "UPS" EXACT ABBREVIATION [NCIT:C4247, Orphanet:2023] @@ -36335,7 +36336,7 @@ synonym: "vaginal endodermal sinus neoplasm" EXACT [DOID:1910, NCIT:C6379] synonym: "vaginal endodermal sinus tumor" EXACT [NCIT:C6379] synonym: "vaginal endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "vaginal yolk Sac neoplasm" EXACT [DOID:1910, NCIT:C6379] -synonym: "vaginal yolk Sac tumor" EXACT [NCIT:C6379] +synonym: "vaginal yolk Sac tumor" EXACT [DOID:1910, NCIT:C6379] synonym: "vaginal yolk Sac tumour" EXACT OMO:0003005 [] synonym: "yolk sac tumor" RELATED [ONCOTREE:VYST] synonym: "yolk sac tumour" RELATED OMO:0003005 [] @@ -36352,10 +36353,10 @@ intersection_of: disease_has_location UBERON:0000996 ! vagina [Term] id: MONDO:0002144 name: obsolete hyperuricemia -synonym: "blood urate raized" EXACT [DOID:1920] +synonym: "blood urate raized" EXACT [] synonym: "hyperuricemia" EXACT [MONDO:ambiguous] synonym: "obsolete hyperuricemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "uricacidemia" EXACT [DOID:1920] +synonym: "uricacidemia" EXACT [] xref: DOID:1920 {source="MONDO:obsoleteEquivalent"} xref: ICD9:790.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MESH:D033461 {source="MONDO:obsoleteEquivalent", source="DOID:1920"} @@ -36376,19 +36377,19 @@ def: "A congenital disorder characterized by abnormalities in the development of subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90771"} subset: otar {source="MONDO:OTAR"} -synonym: "CARD" BROAD ABBREVIATION [NCIT:C103186] +synonym: "CARD" BROAD ABBREVIATION [] synonym: "conditions affecting reproductive development" EXACT [NCIT:C103186] synonym: "differences of sex development" EXACT [NCIT:C103186] -synonym: "disorder of sex development" EXACT [MONDO:0019592] +synonym: "disorder of sex development" EXACT [MONDO:0019592, Orphanet:90771] synonym: "disorder of sex differentiation" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of sexual differentiation" EXACT [NCIT:C103186] synonym: "disorders of sex development" EXACT [NCIT:C103186] synonym: "disorders of sex development (DSD)" RELATED [GTR:AN1172969] -synonym: "DSD" BROAD ABBREVIATION [Orphanet:90771] +synonym: "DSD" BROAD ABBREVIATION [] synonym: "intersex" EXACT [NCIT:C103186] synonym: "intersex conditions" EXACT [NCIT:C103186] synonym: "sex differentiation disease" EXACT [DOID:1923] -synonym: "sex differentiation disorder" EXACT [DOID:1923] +synonym: "sex differentiation disorder" EXACT [] synonym: "sexual differentiation disorder" EXACT [NCIT:C103186] xref: DOID:1923 {source="MONDO:equivalentTo"} xref: GTR:AN1172969 @@ -36443,14 +36444,14 @@ name: reproductive system cancer def: "A malignant neoplasm involving the reproductive organ" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} synonym: "cancer of reproductive organ" EXACT [MONDO:patterns/cancer] -synonym: "cancer of reproductive system" EXACT [DOID:193, MONDO:patterns/cancer] +synonym: "cancer of reproductive system" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of reproductive organ" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of reproductive system" EXACT [MONDO:patterns/cancer] synonym: "malignant reproductive organ neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant reproductive system neoplasm" EXACT [DOID:193, MONDO:patterns/cancer, NCIT:C36076] -synonym: "reproductive organ cancer" EXACT [MONDO:patterns/location] +synonym: "reproductive organ cancer" EXACT [DOID:193, MONDO:patterns/location] synonym: "reproductive system cancer" EXACT [] -synonym: "reproductive tumor" BROAD [DOID:193, NCIT:C3674] +synonym: "reproductive tumor" BROAD [] synonym: "reproductive tumour" BROAD OMO:0003005 [] xref: DOID:193 {source="MONDO:equivalentTo"} xref: MEDGEN:233668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -36529,7 +36530,7 @@ id: MONDO:0002154 name: trichomoniasis def: "An infection that is caused by Trichomonas." [NCIT:P378] synonym: "infections, Trichomonas" RELATED [MONDO:patterns/infectious_disease_by_agent] -synonym: "Trichomonas infection" EXACT [DOID:1947, MONDO:patterns/infectious_disease_by_agent] +synonym: "Trichomonas infection" EXACT [icd11.foundation:1220564554, MONDO:patterns/infectious_disease_by_agent, NCIT:C35720] xref: DOID:1947 {source="MONDO:equivalentTo"} xref: ICD10CM:A59 {source="MONDO:equivalentTo", source="DOID:1947"} xref: ICD10CM:A59.9 {source="DOID:1947"} @@ -36555,9 +36556,9 @@ name: cholecystitis def: "An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones." [NCIT:P378] synonym: "acalculous cholecystitis" RELATED [GARD:0000030] synonym: "acute and chronic cholecystitis" EXACT [DOID:1949, ICD9CM:575.12] -synonym: "acute cholecystitis" NARROW [DOID:1949, ICD9CM:575.0, NCIT:C35152] -synonym: "acute on chronic cholecystitis" NARROW [DOID:1949] -synonym: "chronic cholecystitis" NARROW [DOID:1949, ICD9CM:575.11] +synonym: "acute cholecystitis" NARROW [ICD9CM:575.0] +synonym: "acute on chronic cholecystitis" NARROW [] +synonym: "chronic cholecystitis" NARROW [ICD9CM:575.11] synonym: "gall bladder inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "gallstone cholecystitis" RELATED [GARD:0000030] synonym: "inflammation of gall bladder" EXACT [] @@ -36587,7 +36588,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of fallopian tube" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of fallopian tube" EXACT [] synonym: "disorder of fallopian tube" EXACT [MONDO:patterns/location_top] -synonym: "fallopian tube disease" EXACT [MONDO:patterns/location, NCIT:C26771] +synonym: "fallopian tube disease" EXACT [DOID:1962, MONDO:patterns/location, NCIT:C26771] synonym: "fallopian tube disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "fallopian tube disorder" EXACT [NCIT:C26771] xref: DOID:1962 {source="MONDO:equivalentTo"} @@ -36619,11 +36620,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cancer of fallopian tube" EXACT [MONDO:patterns/cancer] synonym: "cancer of fallopian tubes" EXACT [Orphanet:180242] -synonym: "fallopian tube cancer" EXACT [MONDO:patterns/location] +synonym: "fallopian tube cancer" EXACT [DOID:1964, MONDO:patterns/location] synonym: "fallopian tube malignant neoplasm" EXACT [NCIT:C7480] synonym: "fallopian tube malignant tumor" EXACT [NCIT:C7480] synonym: "fallopian tube malignant tumour" EXACT OMO:0003005 [] -synonym: "fallopian tube neoplasm" RELATED EXCLUDE [DOID:1964] +synonym: "fallopian tube neoplasm" RELATED EXCLUDE [] synonym: "malignant fallopian tube neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7480] synonym: "malignant fallopian tube tumor" EXACT [NCIT:C7480] synonym: "malignant fallopian tube tumour" EXACT OMO:0003005 [] @@ -36633,15 +36634,15 @@ synonym: "malignant neoplasm of uterine tube" EXACT [DOID:1964] synonym: "malignant tubal tumor" EXACT [Orphanet:180242] synonym: "malignant tubal tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of fallopian tube" EXACT [DOID:1964, NCIT:C7480] -synonym: "malignant tumor of fallopian tubes" EXACT [MONDO:0015866] +synonym: "malignant tumor of fallopian tubes" EXACT [MONDO:0015866, Orphanet:180242] synonym: "malignant tumor of the fallopian tube" EXACT [NCIT:C7480] -synonym: "malignant tumour of fallopian tube" EXACT OMO:0003005 [] +synonym: "malignant tumour of fallopian tube" EXACT OMO:0003005 [DOID:1964] synonym: "malignant tumour of fallopian tubes" EXACT OMO:0003005 [] synonym: "malignant tumour of the fallopian tube" EXACT OMO:0003005 [] -synonym: "neoplasm of fallopian tube" BROAD EXCLUDE [DOID:1964] +synonym: "neoplasm of fallopian tube" BROAD EXCLUDE [] synonym: "neoplasm, fallopian tube, malignant" EXACT [NCIT:C7480] synonym: "tubal cancer" EXACT [Orphanet:180242] -synonym: "tumor of the fallopian tube" BROAD [DOID:1964, NCIT:C3032] +synonym: "tumor of the fallopian tube" BROAD [] synonym: "tumor, fallopian tube, malignant" EXACT [DOID:1964, NCIT:C7480] synonym: "tumour of the fallopian tube" BROAD OMO:0003005 [] xref: DOID:1964 {source="MONDO:equivalentTo"} @@ -36670,7 +36671,7 @@ name: fallopian tube leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C40128] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "fallopian tube leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C40128] +synonym: "fallopian tube leiomyosarcoma" EXACT [DOID:1965, MONDO:patterns/location, NCIT:C40128] synonym: "leiomyosarcoma of fallopian tube" EXACT [MONDO:design_pattern] xref: DOID:1965 {source="MONDO:equivalentTo"} xref: MEDGEN:274488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -36701,9 +36702,9 @@ def: "An extremely rare malignant neoplasm that arises from the fallopian tube a subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adenosarcoma of fallopian tube" EXACT [MONDO:design_pattern] -synonym: "fallopian tube adenosarcoma" EXACT [MONDO:patterns/location, NCIT:C40125] -synonym: "fallopian tube Mullerian adenosarcoma" EXACT [NCIT:C40125] -synonym: "fallopian tube mullerian adenosarcoma" EXACT [DOID:1973] +synonym: "fallopian tube adenosarcoma" EXACT [DOID:1973, MONDO:patterns/location, NCIT:C40125] +synonym: "fallopian tube Mullerian adenosarcoma" EXACT [DOID:1973, NCIT:C40125] +synonym: "fallopian tube mullerian adenosarcoma" EXACT [DOID:1973, NCIT:C40125] synonym: "fallopian tube Müllerian adenosarcoma" EXACT [NCIT:C40125] xref: DOID:1973 {source="MONDO:equivalentTo"} xref: MEDGEN:275872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -36724,7 +36725,7 @@ subset: rare synonym: "lipoma of thymus" EXACT [MONDO:design_pattern] synonym: "Thymolipoma" EXACT [DOID:1975, NCIT:C6452] synonym: "Thymolipomatous hamartoma" EXACT [NCIT:C6452] -synonym: "thymus lipoma" EXACT [MONDO:patterns/location] +synonym: "thymus lipoma" EXACT [DOID:1975, MONDO:patterns/location] xref: DOID:1975 {source="MONDO:equivalentTo"} xref: MEDGEN:234427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6452 {source="MONDO:equivalentTo", source="DOID:1975"} @@ -36759,7 +36760,7 @@ id: MONDO:0002165 name: rectal neoplasm def: "A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C3350] subset: otar {source="MONDO:OTAR"} -synonym: "neoplasm of rectum" EXACT [MONDO:patterns/neoplasm, NCIT:C3350] +synonym: "neoplasm of rectum" EXACT [DOID:1984, MONDO:patterns/neoplasm, NCIT:C3350] synonym: "neoplasm of the rectum" EXACT [NCIT:C3350] synonym: "rectal neoplasm" EXACT [NCIT:C3350] synonym: "rectal tumor" EXACT [DOID:1984, NCIT:C3350] @@ -36793,7 +36794,7 @@ synonym: "lymphoma of rectum" EXACT [DOID:1988, NCIT:C5553] synonym: "lymphoma of the rectum" EXACT [NCIT:C5553] synonym: "primary rectal lymphoma" EXACT [NCIT:C5553] synonym: "rectal lymphoma" EXACT [NCIT:C5553] -synonym: "rectum lymphoma" EXACT [MONDO:patterns/location] +synonym: "rectum lymphoma" EXACT [DOID:1988, MONDO:patterns/location] xref: DOID:1988 {source="MONDO:equivalentTo"} xref: MEDGEN:233393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5553 {source="MONDO:equivalentTo", source="DOID:1988"} @@ -36809,7 +36810,7 @@ id: MONDO:0002167 name: rectum malignant melanoma def: "An aggressive malignant melanocytic neoplasm that arises from the rectum." [NCIT:C4640] subset: otar {source="MONDO:OTAR"} -synonym: "malignant melanoma of rectum" EXACT [NCIT:C4640] +synonym: "malignant melanoma of rectum" EXACT [DOID:1992, NCIT:C4640] synonym: "malignant melanoma of the rectum" EXACT [NCIT:C4640] synonym: "melanoma (disease) of rectum" EXACT [] synonym: "melanoma of rectum" EXACT [DOID:1992, NCIT:C4640] @@ -36834,7 +36835,7 @@ id: MONDO:0002168 name: rectum sarcoma def: "A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." [NCIT:P378] synonym: "rectal sarcoma" EXACT [NCIT:C5548] -synonym: "rectum sarcoma" EXACT [MONDO:patterns/location] +synonym: "rectum sarcoma" EXACT [DOID:1995, MONDO:patterns/location] synonym: "sarcoma of rectum" EXACT [DOID:1995, MONDO:patterns/sarcoma, NCIT:C5548] synonym: "sarcoma of the rectum" EXACT [NCIT:C5548] xref: DOID:1995 {source="MONDO:equivalentTo"} @@ -36851,12 +36852,12 @@ id: MONDO:0002169 name: rectum adenocarcinoma def: "An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." [NCIT:C9383] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma - rectum" EXACT [NCIT:C9383] -synonym: "adenocarcinoma of rectum" EXACT [DOID:1996, NCIT:C9383] +synonym: "adenocarcinoma - rectum" EXACT [] +synonym: "adenocarcinoma of rectum" EXACT [NCIT:C9383] synonym: "adenocarcinoma of the rectum" EXACT [NCIT:C9383] synonym: "read" RELATED [ONCOTREE:READ] synonym: "rectal adenocarcinoma" EXACT [DOID:1996, MONDO:0005540, NCIT:C9383] -synonym: "rectum adenocarcinoma" EXACT [MONDO:patterns/location] +synonym: "rectum adenocarcinoma" EXACT [DOID:1996, MONDO:patterns/location] xref: DOID:1996 {source="MONDO:equivalentTo"} xref: EFO:0005631 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:56214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -36896,19 +36897,19 @@ name: giant cell tumor def: "A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells." [NCIT:C3055] comment: editor note: consider separate term for neoplasm (C3055 in NCIT) subset: otar {source="MONDO:OTAR"} -synonym: "giant cell neoplasm" EXACT [DOID:200, NCIT:C7069] +synonym: "giant cell neoplasm" EXACT [] synonym: "giant cell tumor" EXACT [NCIT:C3055] -synonym: "giant cell tumor (morphologic abnormality)" EXACT [DOID:200] -synonym: "giant cell tumor (qualifier value)" EXACT [DOID:200] -synonym: "giant cell tumor NOS (morphologic abnormality)" EXACT [DOID:200] -synonym: "giant cell tumors" RELATED [DOID:200] -synonym: "giant cell tumors (morphologic abnormality)" EXACT [DOID:200] +synonym: "giant cell tumor (morphologic abnormality)" EXACT [] +synonym: "giant cell tumor (qualifier value)" EXACT [] +synonym: "giant cell tumor NOS (morphologic abnormality)" EXACT [] +synonym: "giant cell tumors" RELATED [] +synonym: "giant cell tumors (morphologic abnormality)" EXACT [] synonym: "giant cell tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "giant cell tumour (qualifier value)" EXACT OMO:0003005 [] synonym: "giant cell tumour NOS (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "giant cell tumours" RELATED OMO:0003005 [] synonym: "giant cell tumours (morphologic abnormality)" EXACT OMO:0003005 [] -synonym: "tumor of the giant cell" EXACT [DOID:200, NCIT:C3055] +synonym: "tumor of the giant cell" EXACT [] synonym: "tumour of the giant cell" EXACT OMO:0003005 [] xref: DOID:200 {source="MONDO:equivalentTo"} xref: MEDGEN:6598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -36927,7 +36928,7 @@ is_a: MONDO:0005070 {source="DOID:200/inferred", source="MESH:D005870/inferred", id: MONDO:0002172 name: otosalpingitis def: "An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube." [MONDO:patterns/inflammatory_disease_by_site] -synonym: "Eustachian salpingitis" EXACT [DOID:2000, ICD9CM:381.5] +synonym: "Eustachian salpingitis" EXACT [DOID:2000, ICD10CM:H68.0, ICD9CM:381.5] synonym: "Eustachian tube salpingitis" EXACT [DOID:2000] synonym: "inflammation of pharyngotympanic tube" EXACT [] synonym: "pharyngotympanic tube inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] @@ -37016,11 +37017,11 @@ def: "OBSOLETE. A malignant neoplasm involving the connective tissue" [https://o comment: Reason: grouping class. synonym: "cancer of connective tissue" EXACT [MONDO:patterns/cancer] synonym: "connective tissue cancer" EXACT [MONDO:patterns/location] -synonym: "connective tissue neoplasm" BROAD [DOID:201] +synonym: "connective tissue neoplasm" BROAD [] synonym: "malignant connective tissue neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of connective tissue" EXACT [MONDO:patterns/cancer] -synonym: "neoplasm of connective tissues" BROAD [DOID:201] -synonym: "tumor of connective tissue" BROAD EXCLUDE [DOID:201] +synonym: "neoplasm of connective tissues" BROAD [] +synonym: "tumor of connective tissue" BROAD EXCLUDE [] xref: DOID:201 {source="MONDO:obsoleteEquivalent"} xref: MESH:D009372 {source="MONDO:directSiblingOf", source="DOID:201"} xref: SCTID:126598008 {source="MONDO:directSiblingOf", source="DOID:201"} @@ -37035,7 +37036,7 @@ name: hyperinsulinism def: "Abnormally high levels of insulin in the blood." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "hyperinsulinemia" EXACT [DOID:2018] -synonym: "hyperinsulinism" EXACT [MONDO:ambiguous] +synonym: "hyperinsulinism" EXACT [DOID:2018, MONDO:ambiguous] synonym: "hyperinsulinism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2018 {source="MONDO:equivalentTo"} xref: HP:0000842 {source="MONDO:otherHierarchy"} @@ -37063,9 +37064,9 @@ def: "A malignant neoplasm involving the placenta." [https://orcid.org/0000-0002 subset: otar {source="MONDO:OTAR"} synonym: "cancer of placenta" EXACT [MONDO:patterns/cancer] synonym: "deciduoma, malignant" EXACT [NCIT:C3555] -synonym: "malignant neoplasm of placenta" EXACT [DOID:2021, ICD9CM:181, MONDO:patterns/cancer] +synonym: "malignant neoplasm of placenta" EXACT [DOID:2021, ICD9CM:181, MONDO:patterns/cancer, NCIT:C3555] synonym: "malignant neoplasm of the placenta" EXACT [NCIT:C3555] -synonym: "malignant placenta neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant placenta neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3555] synonym: "malignant placenta tumor" EXACT [NCIT:C3555] synonym: "malignant placenta tumour" EXACT OMO:0003005 [] synonym: "malignant placental neoplasm" EXACT [NCIT:C3555] @@ -37075,10 +37076,10 @@ synonym: "malignant tumor of placenta" EXACT [NCIT:C3555] synonym: "malignant tumor of the placenta" EXACT [NCIT:C3555] synonym: "malignant tumour of placenta" EXACT OMO:0003005 [] synonym: "malignant tumour of the placenta" EXACT OMO:0003005 [] -synonym: "neoplasm of placenta" RELATED EXCLUDE [DOID:2021] -synonym: "placenta cancer" EXACT [MONDO:patterns/location] +synonym: "neoplasm of placenta" RELATED EXCLUDE [] +synonym: "placenta cancer" EXACT [DOID:2021, MONDO:patterns/location] synonym: "placental cancer" EXACT [DOID:2021] -synonym: "placental tumors" BROAD [DOID:2021, NCIT:C4858] +synonym: "placental tumors" BROAD [] synonym: "placental tumours" BROAD OMO:0003005 [] synonym: "primary malignant neoplasm of placenta" EXACT [DOID:2021] xref: DOID:2021 {source="MONDO:equivalentTo"} @@ -37116,12 +37117,12 @@ def: "Non-neoplastic overgrowth of bone." [NCIT:C3029] comment: Editor note: compare with osteophyte subset: otar {source="MONDO:OTAR"} synonym: "bone osteophyte" EXACT [] -synonym: "bone spur" EXACT [DOID:203, NCIT:C3029] +synonym: "bone spur" EXACT [DOID:203] synonym: "bony outgrowth" EXACT [DOID:203] -synonym: "exostosis" EXACT [NCIT:C3029] -synonym: "orbital exostosis" NARROW [DOID:203] +synonym: "exostosis" EXACT [DOID:203, NCIT:C3029] +synonym: "orbital exostosis" NARROW [] synonym: "osteophyte" EXACT [DOID:203] -synonym: "swimmer's exostosis" NARROW [DOID:203] +synonym: "swimmer's exostosis" NARROW [] xref: DOID:203 {source="MONDO:equivalentTo"} xref: ICD10CM:M27.8 {source="DOID:203"} xref: ICD9:726.91 {source="DOID:203", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -37206,7 +37207,7 @@ def: "Excessive thickening of bone." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "bone hypertrophy" EXACT [DOID:205, NCIT:C34712] synonym: "hypertrophy of bone" EXACT [DOID:205] -synonym: "hypertrophy of bone (morphologic abnormality)" EXACT [DOID:205] +synonym: "hypertrophy of bone (morphologic abnormality)" EXACT [] xref: DOID:205 {source="MONDO:equivalentTo"} xref: ICD10CM:M89.3 {source="DOID:205"} xref: ICD10CM:M89.30 {source="DOID:205"} @@ -37223,7 +37224,7 @@ is_a: MONDO:0000833 {source="DOID:205"} ! bone remodeling disease id: MONDO:0002186 name: acute maxillary sinusitis def: "Acute form of maxillary sinusitis." [MONDO:patterns/acute] -synonym: "acute antritis" EXACT [DOID:2050] +synonym: "acute antritis" EXACT [DOID:2050, ICD10CM:J01.0, icd11.foundation:1617309258] synonym: "maxillary sinusitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:2050 {source="MONDO:equivalentTo"} xref: ICD10CM:J01.0 {source="MONDO:equivalentTo", source="DOID:2050"} @@ -37247,7 +37248,7 @@ def: "A non-neoplastic or neoplastic disorder that affects the vulva. Representa subset: otar {source="MONDO:OTAR"} synonym: "disorder of vulva" EXACT [] synonym: "vulval disorder" RELATED [] -synonym: "vulvar disease" EXACT [NCIT:C27631] +synonym: "vulvar disease" EXACT [DOID:2059, NCIT:C27631] synonym: "vulvar disorder" EXACT [NCIT:C27631] xref: DOID:2059 {source="MONDO:equivalentTo"} xref: MEDGEN:53055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -37263,7 +37264,7 @@ name: vulvar nodular hidradenoma def: "A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm." [NCIT:C40312] synonym: "mammalian vulva nodular hidradenoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "nodular hidradenoma of mammalian vulva" EXACT [MONDO:design_pattern] -synonym: "vulvar nodular hidradenoma" EXACT [NCIT:C40312] +synonym: "vulvar nodular hidradenoma" EXACT [DOID:2060, NCIT:C40312] xref: DOID:2060 {source="MONDO:equivalentTo"} xref: MEDGEN:276994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40312 {source="MONDO:equivalentTo", source="DOID:2060", source="MONDO:exact-label-match"} @@ -37280,7 +37281,7 @@ name: nodular hidradenoma def: "A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative." [NCIT:P378] synonym: "eccrine nodular hidradenoma" RELATED [DOID:2061] synonym: "nodular hidradenoma" EXACT [DOID:2061, MTH:NOCODE, NCIT:C7568] -synonym: "solid and cystic hidradenoma" EXACT [NCIT:C7568] +synonym: "solid and cystic hidradenoma" EXACT [] xref: DOID:2061 {source="MONDO:equivalentTo"} xref: ICDO:8402/0 {source="NCIT:C7568"} xref: MEDGEN:1374260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -37295,7 +37296,7 @@ name: vulvar syringoma def: "A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis." [NCIT:C40311] synonym: "mammalian vulva syringoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "syringoma of mammalian vulva" EXACT [MONDO:design_pattern] -synonym: "vulvar syringoma" EXACT [NCIT:C40311] +synonym: "vulvar syringoma" EXACT [DOID:2064, NCIT:C40311] xref: DOID:2064 {source="MONDO:equivalentTo"} xref: MEDGEN:311490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40311 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:2064"} @@ -37312,7 +37313,7 @@ name: syringoma def: "A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis." [NCIT:C3761] subset: otar {source="MONDO:OTAR"} synonym: "eccrine syringoma" EXACT [NCIT:C3761] -synonym: "syringoma" EXACT [NCIT:C3761] +synonym: "syringoma" EXACT [DOID:2065, icd11.foundation:1091480008, NCIT:C3761] xref: DOID:2065 {source="MONDO:equivalentTo"} xref: icd11.foundation:1091480008 {source="MONDO:equivalentTo"} xref: ICDO:8407/0 {source="NCIT:C3761"} @@ -37348,9 +37349,9 @@ intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva id: MONDO:0002193 name: Bartholin gland benign neoplasm def: "A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." [NCIT:P378] -synonym: "Bartholin gland neoplasm" BROAD [DOID:2068] +synonym: "Bartholin gland neoplasm" BROAD [] synonym: "major vestibular gland benign neoplasm" EXACT [MONDO:patterns/location] -synonym: "tumor of Bartholin's gland" BROAD [DOID:2068, NCIT:C6434] +synonym: "tumor of Bartholin's gland" BROAD [] synonym: "tumour of Bartholin's gland" BROAD OMO:0003005 [] xref: DOID:2068 {source="MONDO:equivalentTo"} xref: MEDGEN:83868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -37367,7 +37368,7 @@ name: vestibular papilloma def: "A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia." [NCIT:C6376] synonym: "mammalian vulva squamous papilloma" EXACT [MONDO:patterns/location] synonym: "vestibular papilloma" EXACT [NCIT:C6376] -synonym: "vulvar squamous papilloma" EXACT [NCIT:C6376] +synonym: "vulvar squamous papilloma" EXACT [DOID:2071, NCIT:C6376] xref: DOID:2071 {source="MONDO:equivalentTo"} xref: MEDGEN:277874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6376 {source="MONDO:equivalentTo", source="DOID:2071"} @@ -37385,7 +37386,7 @@ def: "A benign, precancerous, or malignant neoplasm that arises from the squamou subset: otar {source="MONDO:OTAR"} synonym: "mammalian vulva squamous cell neoplasm" EXACT [MONDO:patterns/location] synonym: "vulvar squamous neoplasm" EXACT [NCIT:C40283] -synonym: "vulvar squamous tumor" EXACT [NCIT:C40283] +synonym: "vulvar squamous tumor" EXACT [DOID:2072, NCIT:C40283] synonym: "vulvar squamous tumour" EXACT OMO:0003005 [] xref: DOID:2072 {source="MONDO:equivalentTo"} xref: MEDGEN:276998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -37413,7 +37414,7 @@ is_a: MONDO:0006807 {source="DOID:2073"} ! intestinal perforation id: MONDO:0002197 name: minor vestibular glands adenoma def: "A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present." [NCIT:C40301] -synonym: "adenoma of minor vestibular glands" EXACT [DOID:2075, NCIT:C40301] +synonym: "adenoma of minor vestibular glands" EXACT [NCIT:C40301] synonym: "minor vestibular gland adenoma" EXACT [MONDO:patterns/location] xref: DOID:2075 {source="MONDO:equivalentTo"} xref: MEDGEN:267644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -37433,7 +37434,7 @@ name: vulvar glandular neoplasm def: "A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma." [NCIT:C40292] synonym: "mammalian vulva glandular cell neoplasm" EXACT [MONDO:patterns/location] synonym: "vulvar glandular neoplasm" EXACT [NCIT:C40292] -synonym: "vulvar glandular tumor" EXACT [NCIT:C40292] +synonym: "vulvar glandular tumor" EXACT [DOID:2076, NCIT:C40292] synonym: "vulvar glandular tumour" EXACT OMO:0003005 [] xref: DOID:2076 {source="MONDO:equivalentTo"} xref: MEDGEN:276991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -37449,7 +37450,7 @@ id: MONDO:0002199 name: benign mixed tumor of the vulva def: "A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended." [NCIT:C40302] synonym: "benign mixed tumor of the vulva" EXACT [NCIT:C40302] -synonym: "chondroid syringoma of the vulva" EXACT [NCIT:C40302] +synonym: "chondroid syringoma of the vulva" EXACT [DOID:2078, NCIT:C40302] xref: DOID:2078 {source="MONDO:equivalentTo"} xref: MEDGEN:267714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40302 {source="DOID:2078", source="MONDO:equivalentTo"} @@ -37472,11 +37473,11 @@ synonym: "benign mixed tumour of the skin" EXACT OMO:0003005 [] synonym: "benign mixed tumour of the skin (chondroid syringoma)" EXACT OMO:0003005 [] synonym: "chondroid syringoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/, NCIT:C4474] synonym: "eccrine mixed tumor" EXACT [DOID:2079] -synonym: "eccrine mixed tumor (morphologic abnormality)" EXACT [DOID:2079] -synonym: "eccrine mixed tumour" EXACT OMO:0003005 [] +synonym: "eccrine mixed tumor (morphologic abnormality)" EXACT [] +synonym: "eccrine mixed tumour" EXACT OMO:0003005 [DOID:2079] synonym: "eccrine mixed tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "eccrine sweat gland mixed neoplasm" EXACT [MONDO:patterns/location] -synonym: "mixed eccrine neoplasm of the skin" EXACT [DOID:2079, NCIT:C4474] +synonym: "mixed eccrine neoplasm of the skin" EXACT [DOID:2079] synonym: "mixed tumor of the skin (chondroid syringoma)" EXACT [NCIT:C4474] synonym: "mixed tumour of the skin (chondroid syringoma)" EXACT OMO:0003005 [] xref: DOID:2079 {source="MONDO:equivalentTo"} @@ -37498,7 +37499,7 @@ def: "A benign neoplasm that arises from the vulva and is characterized by the p synonym: "mammalian vulva trichoblastoma" EXACT [MONDO:patterns/location] synonym: "trichoblastoma of mammalian vulva" EXACT [] synonym: "vulvar trichoblastoma" EXACT [NCIT:C40314] -synonym: "vulvar trichoepithelioma" EXACT [NCIT:C40314] +synonym: "vulvar trichoepithelioma" EXACT [DOID:2080, NCIT:C40314] xref: DOID:2080 {source="MONDO:equivalentTo"} xref: MEDGEN:274418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40314 {source="MONDO:equivalentTo", source="DOID:2080", source="MONDO:exact-label-match"} @@ -37524,7 +37525,7 @@ name: constipation disorder def: "Irregular and infrequent or difficult evacuation of the bowels." [NCIT:C37930] subset: otar {source="MONDO:OTAR"} synonym: "colonic inertia" RELATED [MESH:D003248] -synonym: "constipation" EXACT [HP:0002019] +synonym: "constipation" EXACT [HP:0002019, ICD10CM:K59.0, NCIT:C37930] synonym: "Dyschezia" RELATED [MESH:D003248] xref: DOID:2089 {source="MONDO:equivalentObsolete"} xref: HP:0002019 {source="MONDO:otherHierarchy"} @@ -37553,7 +37554,7 @@ intersection_of: disease_has_major_feature HP:0002019 ! Constipation id: MONDO:0002204 name: transient arthritis def: "Arthritis that is not permanent." [https://orcid.org/0000-0002-6601-2165] -synonym: "transient arthropathy" BROAD [NCIT:C35761] +synonym: "transient arthropathy" BROAD [] xref: DOID:2092 {source="MONDO:equivalentTo"} xref: ICD10CM:M12.8 {source="DOID:2092"} xref: icd11.foundation:846745561 {source="MONDO:equivalentTo"} @@ -37579,7 +37580,7 @@ synonym: "malignant melanoma of vulva" EXACT [DOID:2093] synonym: "mammalian vulva melanoma" EXACT [] synonym: "mammalian vulva melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "melanoma (disease) of mammalian vulva" EXACT [] -synonym: "vulvar melanoma" EXACT [MONDO:ambiguous, NCIT:C40329] +synonym: "vulvar melanoma" EXACT [DOID:2093, MONDO:ambiguous, NCIT:C40329] synonym: "vulvar melanoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2093 {source="MONDO:equivalentTo"} xref: HP:0030418 {source="MONDO:otherHierarchy"} @@ -37606,7 +37607,7 @@ synonym: "malignant tumor of sweat gland" EXACT [NCIT:C4810] synonym: "malignant tumor of the sweat gland" EXACT [DOID:2095, NCIT:C4810] synonym: "malignant tumour of sweat gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the sweat gland" EXACT OMO:0003005 [] -synonym: "sweat gland cancer" EXACT [MONDO:patterns/location] +synonym: "sweat gland cancer" EXACT [DOID:2095, MONDO:patterns/location] synonym: "sweat gland neoplasms, malignant" EXACT [NCIT:C4810] xref: DOID:2095 {source="MONDO:equivalentTo"} xref: ICD10CM:C44 {source="DOID:2095"} @@ -37632,10 +37633,10 @@ subset: rare synonym: "mammalian vulva Paget disease" EXACT [MONDO:patterns/location] synonym: "Paget disease of the vulva" EXACT [NCIT:C4027] synonym: "Paget's disease of the vulva" EXACT [NCIT:C4027] -synonym: "Paget's disease of vulva" EXACT [NCIT:C4027] +synonym: "Paget's disease of vulva" EXACT [DOID:2097, NCIT:C4027] synonym: "vulva Paget's disease" EXACT [NCIT:C4027] synonym: "vulval Paget disease" EXACT [DOID:2097] -synonym: "vulval Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "vulval Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:2097, MONDO:LexicalVariant] synonym: "vulvar Paget's disease" EXACT [DOID:2097, NCIT:C4027] xref: DOID:2097 {source="MONDO:equivalentTo"} xref: ICD9:233.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -37693,8 +37694,8 @@ subset: rare synonym: "B cell (antibody) deficiencies" EXACT [DOID:2115] synonym: "B-cell deficiency" EXACT [NCIT:C4799] synonym: "deficiency of humoral immunity" EXACT [NCIT:C4799] -synonym: "immunoglobulin heavy chain deficiency" RELATED [DOID:2115] -synonym: "immunoglobulin heavy chain deletion" RELATED [DOID:2115] +synonym: "immunoglobulin heavy chain deficiency" RELATED [] +synonym: "immunoglobulin heavy chain deletion" RELATED [] xref: DOID:2115 {source="MONDO:equivalentTo"} xref: ICD9:279.03 {source="DOID:2115"} xref: MEDGEN:340780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -37738,7 +37739,7 @@ subset: rare synonym: "brain germinoma (disease)" EXACT [MONDO:patterns/location] synonym: "germinoma of brain" EXACT [NCIT:C6284] synonym: "germinoma of the brain" EXACT [DOID:2127, NCIT:C6284] -synonym: "intracranial germinoma" BROAD [DOID:2127] +synonym: "intracranial germinoma" BROAD [] xref: DOID:2127 {source="MONDO:equivalentTo"} xref: MEDGEN:231457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6284 {source="DOID:2127", source="MONDO:equivalentTo"} @@ -37760,7 +37761,7 @@ name: brain sarcoma def: "A sarcoma arising from the brain." [NCIT:C5154] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "brain sarcoma" EXACT [MONDO:patterns/location, NCIT:C5154] +synonym: "brain sarcoma" EXACT [DOID:2132, MONDO:patterns/location, NCIT:C5154] synonym: "primary brain sarcoma" EXACT [NCIT:C5154] synonym: "sarcoma of brain" EXACT [MONDO:patterns/sarcoma, NCIT:C5154] synonym: "sarcoma of the brain" EXACT [DOID:2132, NCIT:C5154] @@ -37780,7 +37781,7 @@ def: "A sarcoma that arises from the central nervous system." [NCIT:C5153] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "central nervous system sarcoma" EXACT [MONDO:patterns/location, NCIT:C5153] +synonym: "central nervous system sarcoma" EXACT [DOID:2133, MONDO:patterns/location, NCIT:C5153] synonym: "CNS sarcoma" EXACT [NCIT:C5153] synonym: "sarcoma of central nervous system" EXACT [MONDO:patterns/sarcoma, NCIT:C5153] synonym: "sarcoma of CNS" EXACT [NCIT:C5153] @@ -37801,12 +37802,12 @@ id: MONDO:0002218 name: temporal lobe cancer def: "A cancer that involves the temporal lobe." [MONDO:patterns/location] synonym: "cancer of temporal lobe" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of temporal lobe" EXACT [DOID:2135, MONDO:patterns/cancer] +synonym: "malignant neoplasm of temporal lobe" EXACT [DOID:2135, ICD10CM:C71.2, MONDO:patterns/cancer] synonym: "malignant temporal lobe neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "neoplasm of temporal lobe" RELATED EXCLUDE [DOID:2135] +synonym: "neoplasm of temporal lobe" RELATED EXCLUDE [] synonym: "temporal lobe cancer" EXACT [MONDO:patterns/location] -synonym: "temporal lobe neoplasm" RELATED [DOID:2135] -synonym: "tumor of temporal lobe" RELATED EXCLUDE [DOID:2135] +synonym: "temporal lobe neoplasm" RELATED [] +synonym: "tumor of temporal lobe" RELATED EXCLUDE [] synonym: "tumour of temporal lobe" RELATED OMO:0003005 [] xref: DOID:2135 {source="MONDO:equivalentTo", source="MONDO:placement-based-on-DOID-graph"} xref: ICD10CM:C71.2 {source="DOID:2135", source="MONDO:equivalentTo"} @@ -37833,7 +37834,7 @@ synonym: "paraurethral gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "paraurethral gland tumor" EXACT [MONDO:patterns/neoplasm] synonym: "paraurethral gland tumour" EXACT OMO:0003005 [] synonym: "tumor of paraurethral gland" EXACT [MONDO:patterns/neoplasm] -synonym: "tumor of the paraurethral gland" EXACT [DOID:2139, NCIT:C4378] +synonym: "tumor of the paraurethral gland" EXACT [DOID:2139] synonym: "tumour of paraurethral gland" EXACT OMO:0003005 [] synonym: "tumour of the paraurethral gland" EXACT OMO:0003005 [] xref: DOID:2139 {source="MONDO:equivalentTo"} @@ -37850,7 +37851,7 @@ id: MONDO:0002220 name: tooth hard tissue disease subset: otar {source="MONDO:OTAR"} synonym: "disorder of hard tissues of teeth" EXACT [] -synonym: "teeth hard tissue disease" RELATED [DOID:214] +synonym: "teeth hard tissue disease" RELATED [] synonym: "teeth hard tissue diseases" RELATED [] xref: DOID:214 {source="MONDO:equivalentTo"} xref: ICD10CM:K03 {source="MONDO:equivalentTo"} @@ -37869,7 +37870,7 @@ id: MONDO:0002221 name: urethral urothelial papilloma def: "Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003" [NCIT:C5061] synonym: "urethra urothelial papilloma" EXACT [MONDO:patterns/location] -synonym: "urethral urothelial papilloma" EXACT [NCIT:C5061] +synonym: "urethral urothelial papilloma" EXACT [DOID:2140, NCIT:C5061] xref: DOID:2140 {source="MONDO:equivalentTo"} xref: MEDGEN:275549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5061 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:2140"} @@ -37885,7 +37886,7 @@ name: urethra leiomyoma def: "A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378] synonym: "leiomyoma of the urethra" EXACT [DOID:2142, NCIT:C6171] synonym: "leiomyoma of urethra" EXACT [NCIT:C6171] -synonym: "urethra leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6171] +synonym: "urethra leiomyoma" EXACT [DOID:2142, MONDO:patterns/location, NCIT:C6171] synonym: "urethral leiomyoma" EXACT [NCIT:C6171] xref: DOID:2142 {source="MONDO:equivalentTo"} xref: MEDGEN:237035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -37903,7 +37904,7 @@ def: "A rare malignant mesothelial neoplasm that usually involves both the ovari subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "malignant mesothelioma (disease) of ovary" EXACT [] -synonym: "ovarian malignant mesothelioma" EXACT [NCIT:C40444] +synonym: "ovarian malignant mesothelioma" EXACT [DOID:2143, NCIT:C40444] synonym: "ovary malignant mesothelioma (disease)" EXACT [MONDO:patterns/location] xref: DOID:2143 {source="MONDO:equivalentTo"} xref: MEDGEN:274089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -37920,7 +37921,7 @@ name: malignant ovarian cyst def: "A cystic cancerous tumor arising from the ovary." [NCIT:C3843] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "malignant ovarian cyst" EXACT [NCIT:C3843] +synonym: "malignant ovarian cyst" EXACT [DOID:2145, NCIT:C3843] synonym: "malignant ovarian cyst (disease)" EXACT [] synonym: "ovarian cyst (disease), malignant" EXACT [MONDO:patterns/malignant] xref: DOID:2145 {source="MONDO:equivalentTo"} @@ -37939,7 +37940,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ovarian sarcoma" EXACT [NCIT:C8267] -synonym: "ovary sarcoma" EXACT [MONDO:patterns/location] +synonym: "ovary sarcoma" EXACT [DOID:2146, MONDO:patterns/location] synonym: "sarcoma of ovary" EXACT [DOID:2146, MONDO:patterns/sarcoma, NCIT:C8267] synonym: "sarcoma of the ovary" EXACT [NCIT:C8267] xref: DOID:2146 {source="MONDO:equivalentTo"} @@ -37980,7 +37981,7 @@ def: "A lymphoma that affects the ovary. Lymphomatous involvement of the ovary i subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "lymphoma of ovary" EXACT [MONDO:design_pattern] -synonym: "ovarian lymphoma" EXACT [NCIT:C40021] +synonym: "ovarian lymphoma" EXACT [DOID:2150, NCIT:C40021] synonym: "ovary lymphoma" EXACT [MONDO:patterns/location] synonym: "primary ovarian lymphoma" EXACT [NCIT:C40021] xref: DOID:2150 {source="MONDO:equivalentTo"} @@ -38005,7 +38006,7 @@ def: "A benign, borderline, or malignant tumor that originates from the surface subset: otar {source="MONDO:OTAR"} synonym: "epithelial neoplasm of ovary" EXACT [NCIT:C4381] synonym: "epithelial neoplasm of the ovary" EXACT [NCIT:C4381] -synonym: "epithelial tumor of ovary" EXACT [DOID:2152, NCIT:C4381] +synonym: "epithelial tumor of ovary" EXACT [NCIT:C4381] synonym: "epithelial tumor of the ovary" EXACT [NCIT:C4381] synonym: "epithelial tumour of ovary" EXACT OMO:0003005 [] synonym: "epithelial tumour of the ovary" EXACT OMO:0003005 [] @@ -38013,7 +38014,7 @@ synonym: "ovarian epithelial tumor" EXACT [NCIT:C4381] synonym: "ovarian surface epithelial-stromal tumor" EXACT [DOID:2152, NCIT:C4381] synonym: "ovarian surface epithelial-stromal tumour" EXACT OMO:0003005 [] synonym: "ovarian surface-epithelial stromal neoplasm" EXACT [NCIT:C4381] -synonym: "ovary epithelial cancer" RELATED [DOID:2152] +synonym: "ovary epithelial cancer" RELATED [] synonym: "ovary epithelial neoplasm" EXACT [MONDO:patterns/location] synonym: "OVT" RELATED ABBREVIATION [ONCOTREE:OVT] xref: DOID:2152 {source="MONDO:equivalentTo"} @@ -38036,8 +38037,8 @@ def: "An embryonal neoplasm arising from the ovary with morphologic features res subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ovarian Wilms tumor" EXACT [NCIT:C40443] -synonym: "ovarian Wilms' cancer" RELATED [DOID:2153] -synonym: "ovarian Wilms' tumor" EXACT [DOID:2153, NCIT:C40443] +synonym: "ovarian Wilms' cancer" RELATED [] +synonym: "ovarian Wilms' tumor" EXACT [] synonym: "ovarian Wilms' tumour" EXACT OMO:0003005 [] synonym: "ovary Wilms tumor" EXACT [MONDO:patterns/location] synonym: "ovary Wilms tumour" EXACT OMO:0003005 [] @@ -38063,7 +38064,7 @@ def: "A disease involving the nasal cavity." [https://orcid.org/0000-0002-6601-2 synonym: "disease of nasal cavity" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of nasal cavity" EXACT [] synonym: "disorder of nasal cavity" EXACT [MONDO:patterns/location_top] -synonym: "nasal cavity disease" EXACT [MONDO:patterns/location, NCIT:C27102] +synonym: "nasal cavity disease" EXACT [DOID:2163, MONDO:patterns/location, NCIT:C27102] synonym: "nasal cavity disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "nasal cavity disorder" EXACT [NCIT:C27102] xref: DOID:2163 {source="MONDO:equivalentTo"} @@ -38105,11 +38106,11 @@ id: MONDO:0002234 name: vaginitis def: "A non-infectious or infectious inflammatory process affecting the vagina." [NCIT:C26911] subset: otar {source="MONDO:OTAR"} -synonym: "inflammation of vagina" EXACT [] +synonym: "inflammation of vagina" EXACT [icd11.foundation:290861382] synonym: "vagina inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "vaginal Inflammation" EXACT [NCIT:C26911] -synonym: "vaginal inflammation" EXACT [NCIT:C26911] -synonym: "vaginitis" EXACT [MONDO:ambiguous, NCIT:C26911] +synonym: "vaginal Inflammation" EXACT [icd11.foundation:290861382, NCIT:C26911] +synonym: "vaginal inflammation" EXACT [icd11.foundation:290861382, NCIT:C26911] +synonym: "vaginitis" EXACT [DOID:2170, icd11.foundation:290861382, MONDO:ambiguous, NCIT:C26911] synonym: "vaginitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2170 {source="MONDO:equivalentTo"} xref: HP:0030683 {source="MONDO:otherHierarchy"} @@ -38175,10 +38176,10 @@ synonym: "cancer of eye" EXACT [MONDO:patterns/cancer, NCIT:C4767] synonym: "cancer of eyeball of camera-type eye" EXACT [MONDO:patterns/cancer] synonym: "cancer of the eye" EXACT [NCIT:C4767] synonym: "eye cancer" EXACT [MONDO:patterns/location, NCIT:C4767] -synonym: "eye neoplasm" BROAD [DOID:2174] +synonym: "eye neoplasm" BROAD [] synonym: "eye neoplasm, malignant" EXACT [NCIT:C4767] synonym: "eyeball of camera-type eye cancer" EXACT [] -synonym: "malignant eye cancer, NOS" RELATED EXCLUDE [NCIT:C4767] +synonym: "malignant eye cancer, NOS" RELATED EXCLUDE [] synonym: "malignant eye neoplasm" EXACT [DOID:2174, MONDO:patterns/cancer, NCIT:C4767] synonym: "malignant eye tumor" EXACT [NCIT:C4767] synonym: "malignant eye tumour" EXACT OMO:0003005 [] @@ -38193,9 +38194,9 @@ synonym: "malignant tumor of eye" EXACT [NCIT:C4767] synonym: "malignant tumor of the eye" EXACT [NCIT:C4767] synonym: "malignant tumour of eye" EXACT OMO:0003005 [] synonym: "malignant tumour of the eye" EXACT OMO:0003005 [] -synonym: "neoplasm of eye" BROAD [DOID:2174] -synonym: "neoplasm of eye proper" RELATED [DOID:2174] -synonym: "ocular tumor" BROAD [DOID:2174, NCIT:C3030] +synonym: "neoplasm of eye" BROAD [] +synonym: "neoplasm of eye proper" RELATED [] +synonym: "ocular tumor" BROAD [] synonym: "ocular tumour" BROAD OMO:0003005 [] xref: DOID:2174 {source="MONDO:equivalentTo"} xref: ICD9:190.8 {source="DOID:2174"} @@ -38242,7 +38243,7 @@ is_a: MONDO:0002922 {source="DOID:2176"} ! pyoderma id: MONDO:0002238 name: ascending colon cancer def: "A malignant neoplasm involving the ascending colon." [https://orcid.org/0000-0002-6601-2165] -synonym: "ascending colon cancer" EXACT [MONDO:patterns/location] +synonym: "ascending colon cancer" EXACT [DOID:218, MONDO:patterns/location] synonym: "Ca ascending colon" EXACT [DOID:218] synonym: "cancer of ascending colon" EXACT [MONDO:patterns/cancer] synonym: "malignant ascending colon neoplasm" EXACT [MONDO:patterns/cancer] @@ -38333,7 +38334,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bleeding diathesis" EXACT [NCIT:C115221] -synonym: "bleeding disorder" EXACT [https://orcid.org/0000-0002-6601-2165] +synonym: "bleeding disorder" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C115221] synonym: "bleeding predisposition" EXACT [NCIT:C115221] synonym: "bleeding tendency" EXACT [NCIT:C115221] synonym: "hemorrhagic diathesis" EXACT [DOID:2213] @@ -38360,10 +38361,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deficiency, stable" EXACT [DOID:2215] -synonym: "F7 deficiency" EXACT [OMIM:227500] +synonym: "deficiency, stable" EXACT [] +synonym: "F7 deficiency" EXACT [] synonym: "factor 7 deficiency" EXACT [MESH:D005168] -synonym: "factor VII deficiency" EXACT CLINGEN_LABEL [DOID:2215] +synonym: "factor VII deficiency" EXACT CLINGEN_LABEL [] xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:8769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D005168 {source="MONDO:equivalentTo"} @@ -38399,7 +38400,7 @@ name: perichondritis of auricle def: "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it." [DOID:222, http://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh, http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm] synonym: "perichondritis and chondritis of pinna" EXACT [DOID:222, ICD9CM:380.0] synonym: "perichondritis of pinna" EXACT [DOID:222] -synonym: "perichondritis of pinna, unspecified" EXACT [DOID:222, ICD9CM:380.00] +synonym: "perichondritis of pinna, unspecified" EXACT [ICD9CM:380.00] xref: DOID:222 {source="MONDO:equivalentTo"} xref: ICD10CM:H61.0 {source="DOID:222"} xref: ICD10CM:H61.00 {source="DOID:222"} @@ -38447,8 +38448,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "elevated Platelet count" EXACT [NCIT:C35530] synonym: "Platelet count increased" EXACT [NCIT:C35530] -synonym: "Thrombocythaemia" EXACT [DOID:2228, OMIMPS:187950] -synonym: "thrombocytosis" RELATED [DOID:2228] +synonym: "Thrombocythaemia" EXACT [DOID:2228] +synonym: "thrombocytosis" RELATED [] xref: DOID:2228 {source="MONDO:equivalentTo"} xref: ICD9:289.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:163397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -38485,15 +38486,15 @@ intersection_of: disease_has_location UBERON:0001633 ! basilar artery id: MONDO:0002251 name: hepatitis def: "An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders." [NCIT:P378] -synonym: "acute and subacute liver necrosis" NARROW [DOID:2237] -synonym: "acute hepatitis" NARROW [DOID:2237] -synonym: "acute/subac. necrosis of liver" NARROW [DOID:2237] -synonym: "animal hepatitis" NARROW [DOID:2237] -synonym: "chronic hepatitis" NARROW [DOID:2237] -synonym: "chronic persistent hepatitis" NARROW [DOID:2237] +synonym: "acute and subacute liver necrosis" NARROW [] +synonym: "acute hepatitis" NARROW [] +synonym: "acute/subac. necrosis of liver" NARROW [] +synonym: "animal hepatitis" NARROW [] +synonym: "chronic hepatitis" NARROW [] +synonym: "chronic persistent hepatitis" NARROW [] synonym: "Hepatitides" RELATED [MESH:D006505] -synonym: "Hepatitis" EXACT [NCIT:C3095] -synonym: "hepatitis" EXACT [NCIT:C3095] +synonym: "Hepatitis" EXACT [DOID:2237, NCIT:C3095] +synonym: "hepatitis" EXACT [DOID:2237, NCIT:C3095] synonym: "inflammation of liver" EXACT [] synonym: "liver inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2237 {source="MONDO:equivalentTo"} @@ -38574,7 +38575,7 @@ synonym: "cluster, symptom" EXACT [MESH:D013577] synonym: "clusters, symptom" EXACT [MESH:D013577] synonym: "symptom cluster" EXACT [MESH:D013577] synonym: "symptom clusters" EXACT [MESH:D013577] -synonym: "syndrome" EXACT [NCIT:C28193, OGMS:0000086] +synonym: "syndrome" EXACT [DOID:225, NCIT:C28193, OGMS:0000086] synonym: "syndrome associated with disease or disorder" EXACT [MONDO:patterns/syndromic] synonym: "syndromes" EXACT [MESH:D013577] synonym: "syndromic disease" EXACT [MONDO:patterns/syndromic] @@ -38634,7 +38635,7 @@ id: MONDO:0002257 name: ankylosis def: "Fixation and immobility of a joint." [MESH:D000844] subset: otar {source="MONDO:OTAR"} -synonym: "ankylosis" EXACT [MONDO:ambiguous] +synonym: "ankylosis" EXACT [DOID:227, MONDO:ambiguous] synonym: "ankylosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:227 {source="MONDO:equivalentTo"} xref: HP:0031013 {source="MONDO:otherHierarchy"} @@ -38658,20 +38659,20 @@ id: MONDO:0002258 name: pharyngitis def: "Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma." [NCIT:C26851] subset: otar {source="MONDO:OTAR"} -synonym: "acute pharyngitis" NARROW [DOID:2275, ICD9CM:462] -synonym: "acute sore throat" NARROW [DOID:2275] -synonym: "chronic pharyn/nasopharyngitis" NARROW [DOID:2275] -synonym: "chronic pharyngitis" NARROW [DOID:2275, ICD9CM:472.1] -synonym: "chronic pharyngitis and nasopharyngitis" NARROW [DOID:2275] -synonym: "chronic sore throat" NARROW [DOID:2275] +synonym: "acute pharyngitis" NARROW [ICD9CM:462] +synonym: "acute sore throat" NARROW [] +synonym: "chronic pharyn/nasopharyngitis" NARROW [] +synonym: "chronic pharyngitis" NARROW [ICD9CM:472.1] +synonym: "chronic pharyngitis and nasopharyngitis" NARROW [] +synonym: "chronic sore throat" NARROW [] synonym: "inflamed throat" EXACT [DOID:2275] synonym: "inflammation of throat" EXACT [] -synonym: "persistent sore throat" NARROW [DOID:2275] -synonym: "pharyngeal disease" BROAD [DOID:2275] -synonym: "pharyngeal disorder" BROAD [DOID:2275] -synonym: "pharyngitis - acute" NARROW [DOID:2275] +synonym: "persistent sore throat" NARROW [] +synonym: "pharyngeal disease" BROAD [] +synonym: "pharyngeal disorder" BROAD [] +synonym: "pharyngitis - acute" NARROW [] synonym: "Sore throat" EXACT [NCIT:C26851] -synonym: "Sore throat - chronic" NARROW [DOID:2275] +synonym: "Sore throat - chronic" NARROW [] synonym: "throat inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2275 {source="MONDO:equivalentTo"} xref: ICD10CM:J02 {source="DOID:2275"} @@ -38772,7 +38773,7 @@ name: capillary lymphangioma def: "A lymphangioma that involves the capillary." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "capillary lymphangioma" EXACT [MONDO:patterns/location] +synonym: "capillary lymphangioma" EXACT [DOID:2286, MONDO:patterns/location] synonym: "cutaneous lymphangioma" RELATED [DOID:2286] xref: DOID:2286 {source="MONDO:equivalentTo"} xref: MEDGEN:569678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -38795,8 +38796,8 @@ synonym: "disease or disorder of female reproductive system" EXACT [] synonym: "disorder of female genital system" EXACT [] synonym: "disorder of female genital tract" RELATED [] synonym: "disorder of female reproductive system" EXACT [MONDO:patterns/location_top] -synonym: "female reproductive disease" EXACT [DOID:229] -synonym: "female reproductive system disease" EXACT [MONDO:patterns/location, NCIT:C27020] +synonym: "female reproductive disease" EXACT [] +synonym: "female reproductive system disease" EXACT [DOID:229, MONDO:patterns/location, NCIT:C27020] synonym: "female reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "female reproductive system disorder" EXACT [NCIT:C27020] synonym: "gynaecological disease" RELATED OMO:0003005 [] @@ -38839,7 +38840,7 @@ id: MONDO:0002265 name: stereotypic movement disorder def: "Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994)" [MESH:D019956] synonym: "stereotyped repetitive movements" EXACT [DOID:2303] -synonym: "stereotyped repetitive movements NOS (finding)" EXACT [DOID:2303] +synonym: "stereotyped repetitive movements NOS (finding)" EXACT [] synonym: "stereotypy habit disorder" EXACT [DOID:2303] xref: DOID:2303 {source="MONDO:equivalentTo"} xref: ICD10CM:F98.4 {source="DOID:2303"} @@ -38857,7 +38858,7 @@ def: "An extrinsic allergic alveolitis caused by infection with Aspergillus." [M subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "alveolitis due to aspergillus clavatus" NARROW [DOID:2314] +synonym: "alveolitis due to aspergillus clavatus" NARROW [] synonym: "Aspergillus caused extrinsic allergic alveolitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Aspergillus extrinsic allergic alveolitis" EXACT [] synonym: "malt worker lung" EXACT [DOID:2314] @@ -38891,9 +38892,9 @@ id: MONDO:0002268 name: dyspepsia def: "An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease." [NCIT:C26756] subset: otar {source="MONDO:OTAR"} -synonym: "dyspepsia, indigestion" EXACT [DOID:2321] -synonym: "dyspepsia, indigestion NOS" RELATED EXCLUDE [DOID:2321] -synonym: "indigestion" EXACT [DOID:2321] +synonym: "dyspepsia, indigestion" EXACT [] +synonym: "dyspepsia, indigestion NOS" RELATED EXCLUDE [] +synonym: "indigestion" EXACT [NCIT:C26756] xref: DOID:2321 {source="MONDO:equivalentObsolete"} xref: EFO:0008533 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K30 {source="DOID:2321"} @@ -38918,7 +38919,7 @@ name: gastroenteritis def: "An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting." [NCIT:C34632] subset: otar {source="MONDO:OTAR"} synonym: "cholera morbus" EXACT [DOID:2326] -synonym: "infectious colitis, enteritis and gastroenteritis" NARROW [DOID:2326] +synonym: "infectious colitis, enteritis and gastroenteritis" NARROW [] synonym: "inflammation of intestine" EXACT [] synonym: "intestine inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2326 {source="MONDO:equivalentTo"} @@ -38946,7 +38947,7 @@ relationship: disease_has_feature MONDO:0001517 {source="MONDO:Wikidata"} ! dyse id: MONDO:0002270 name: viral gastritis def: "Inflammation of the stomach resulting from viral infection." [NCIT:C27184] -synonym: "viral gastritis" EXACT [NCIT:C27184] +synonym: "viral gastritis" EXACT [DOID:2327, NCIT:C27184] synonym: "Viruses caused gastritis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses gastritis (disease)" EXACT [] xref: DOID:2327 {source="MONDO:equivalentTo"} @@ -38966,11 +38967,11 @@ id: MONDO:0002271 name: colon adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the colon" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma - colon" EXACT [NCIT:C4349] +synonym: "adenocarcinoma - colon" EXACT [] synonym: "adenocarcinoma of colon" EXACT [DOID:234, NCIT:C4349] -synonym: "adenocarcinoma of the colon" EXACT [DOID:234, NCIT:C4349] +synonym: "adenocarcinoma of the colon" EXACT [NCIT:C4349] synonym: "COAD" RELATED ABBREVIATION [ONCOTREE:COAD] -synonym: "colon adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4349] +synonym: "colon adenocarcinoma" EXACT [DOID:234, MONDO:patterns/location, NCIT:C4349] synonym: "colonic adenocarcinoma" EXACT [DOID:234, NCIT:C4349] xref: DOID:234 {source="MONDO:equivalentTo"} xref: EFO:1001949 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -38991,7 +38992,7 @@ def: "A laboratory test result indicating abnormally high proliferation of gamma comment: Editor note: check HP:0003459 Polyclonal elevation of IgM subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "polyclonal hypergammaglobulinemia" EXACT [DOID:2344, NCIT:C35885] +synonym: "polyclonal hypergammaglobulinemia" EXACT [DOID:2344, ICD10CM:D89.0, NCIT:C35885] xref: DOID:2344 {source="MONDO:equivalentTo"} xref: ICD10CM:D89.0 {source="DOID:2344", source="MONDO:equivalentTo"} xref: ICD9:273.0 {source="DOID:2344", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -39024,7 +39025,7 @@ def: "A disease characterized by the presence of excessive amounts of paraprotei subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "monoclonal paraproteinaemia" EXACT [DOID:2346] -synonym: "monoclonal paraproteinemia" EXACT [DOID:2346, NCIT:C35878] +synonym: "monoclonal paraproteinemia" EXACT [DOID:2346] synonym: "paraproteinaemia" EXACT [Wikipedia:Paraproteinemia] xref: DOID:2346 {source="MONDO:equivalentTo"} xref: HP:0031047 {source="MONDO:otherHierarchy"} @@ -39042,8 +39043,8 @@ id: MONDO:0002275 name: generalized atherosclerosis def: "Atherosclerosis that is not localized." [NCIT:P378] synonym: "generalised and unspecified atherosclerosis" EXACT OMO:0003005 [] -synonym: "generalized and unspecified atherosclerosis" EXACT [DOID:2347, ICD9CM:440.9] -synonym: "generalized atherosclerosis" EXACT [DOID:2347] +synonym: "generalized and unspecified atherosclerosis" EXACT [ICD9CM:440.9] +synonym: "generalized atherosclerosis" EXACT [DOID:2347, ICD10CM:I70.91, NCIT:C35767] xref: DOID:2347 {source="MONDO:equivalentTo"} xref: ICD10CM:I70.91 {source="DOID:2347", source="MONDO:equivalentTo"} xref: ICD9:440.9 {source="DOID:2347", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -39066,12 +39067,12 @@ name: arteriosclerosis disorder def: "A vascular disorder characterized by thickening and hardening of the walls of the arteries." [NCIT:C34398] subset: otar {source="MONDO:OTAR"} synonym: "arterial sclerosis" EXACT [NCIT:C34398] -synonym: "arteriosclerosis" EXACT [MONDO:ambiguous] -synonym: "arteriosclerosis NOS" RELATED EXCLUDE [DOID:2349] +synonym: "arteriosclerosis" EXACT [DOID:2349, MONDO:ambiguous, NCIT:C34398] +synonym: "arteriosclerosis NOS" RELATED EXCLUDE [] synonym: "arteriosclerotic cardiovascular disease" EXACT [DOID:2348, MONDO:0002276, NCIT:C34403] -synonym: "arteriosclerotic cardiovascular disease, NOS" RELATED EXCLUDE [DOID:2348] -synonym: "arteriosclerotic vascular disease" EXACT [] -synonym: "arteriosclerotic vascular disease NOS" RELATED EXCLUDE [DOID:2349] +synonym: "arteriosclerotic cardiovascular disease, NOS" RELATED EXCLUDE [] +synonym: "arteriosclerotic vascular disease" EXACT [DOID:2349] +synonym: "arteriosclerotic vascular disease NOS" RELATED EXCLUDE [] synonym: "cardiovascular arteriosclerosis" EXACT [DOID:2348] synonym: "vascular sclerosis" EXACT [NCIT:C34398] xref: CSP:0571-2299 {source="DOID:2349"} @@ -39123,12 +39124,12 @@ synonym: "benign tumor of the colon" EXACT [NCIT:C2894] synonym: "benign tumour of colon" EXACT OMO:0003005 [] synonym: "benign tumour of the colon" EXACT OMO:0003005 [] synonym: "colon benign neoplasm" EXACT [MONDO:patterns/location] -synonym: "colon neoplasm" BROAD [DOID:235] -synonym: "colonic benign neoplasm" RELATED [DOID:235] -synonym: "colonic Mass" EXACT [DOID:235, NCIT:C37904] -synonym: "colonic tumor" BROAD [DOID:235, NCIT:C2953] +synonym: "colon neoplasm" BROAD [] +synonym: "colonic benign neoplasm" RELATED [] +synonym: "colonic Mass" EXACT [DOID:235] +synonym: "colonic tumor" BROAD [] synonym: "colonic tumour" BROAD OMO:0003005 [] -synonym: "neoplasm of colon" RELATED EXCLUDE [DOID:235] +synonym: "neoplasm of colon" RELATED EXCLUDE [] xref: DOID:235 {source="MONDO:equivalentTo"} xref: ICD9:211.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -39205,15 +39206,15 @@ def: "Anemia that is characterized by increased red blood cell volume." [NCIT:P3 subset: otar {source="MONDO:OTAR"} synonym: "anaemia macrocytic" EXACT OMO:0003005 [] synonym: "anemia macrocytic" EXACT [DOID:2361, MTH:NOCODE] -synonym: "D22S676" EXACT ABBREVIATION [Orphanet:119999] -synonym: "D22S750" EXACT ABBREVIATION [Orphanet:119999] -synonym: "macrocytic Anaemia" EXACT OMO:0003005 [] +synonym: "D22S676" EXACT ABBREVIATION [] +synonym: "D22S750" EXACT ABBREVIATION [] +synonym: "macrocytic Anaemia" EXACT OMO:0003005 [DOID:2361] synonym: "macrocytic anaemia (disease)" EXACT OMO:0003005 [] synonym: "macrocytic anaemia of unspecified cause" EXACT OMO:0003005 [] synonym: "macrocytic Anemia" EXACT [DOID:2361, NCIT:C34381] -synonym: "macrocytic anemia" EXACT [DOID:2361, MONDO:ambiguous] +synonym: "macrocytic anemia" EXACT [DOID:2361, MONDO:ambiguous, NCIT:C34381] synonym: "macrocytic anemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "macrocytic anemia of unspecified cause" EXACT [DOID:2361] +synonym: "macrocytic anemia of unspecified cause" EXACT [] xref: DOID:2361 {source="MONDO:equivalentTo"} xref: HP:0001972 {source="MONDO:otherHierarchy"} xref: MEDGEN:1920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -39278,7 +39279,7 @@ def: "A disease involving the pupil." [https://orcid.org/0000-0002-6601-2165] synonym: "disease of pupil" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pupil" EXACT [] synonym: "disorder of pupil" EXACT [MONDO:patterns/location_top] -synonym: "pupil disease" EXACT [MONDO:patterns/location] +synonym: "pupil disease" EXACT [DOID:238, MONDO:patterns/location] synonym: "pupil disease or disorder" EXACT [MONDO:patterns/location] synonym: "pupillary disorder" EXACT [DOID:238] xref: DOID:238 {source="MONDO:equivalentTo"} @@ -39337,7 +39338,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of iris" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of iris" EXACT [] synonym: "disorder of iris" EXACT [MONDO:patterns/location_top] -synonym: "iris disease" EXACT [MONDO:patterns/location] +synonym: "iris disease" EXACT [DOID:240, MONDO:patterns/location] synonym: "iris disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "iris disorder" EXACT [NCIT:C34737] xref: DOID:240 {source="MONDO:equivalentTo"} @@ -39358,17 +39359,17 @@ id: MONDO:0002290 name: clitoris cancer def: "A malignant neoplasm that affects the clitoris." [NCIT:C3557] synonym: "cancer of clitoris" EXACT [MONDO:patterns/cancer] -synonym: "carcinoma of clitoris" NARROW [DOID:2401, NCIT:C9362] +synonym: "carcinoma of clitoris" NARROW [] synonym: "clitoral Ca" EXACT [DOID:2401, SCTID:93758009] -synonym: "clitoral cancer" RELATED EXCLUDE [DOID:2401] -synonym: "clitoris cancer" EXACT [MONDO:patterns/location] +synonym: "clitoral cancer" RELATED EXCLUDE [] +synonym: "clitoris cancer" EXACT [DOID:2401, MONDO:patterns/location] synonym: "malignant clitoral neoplasm" EXACT [NCIT:C3557] synonym: "malignant clitoral tumor" EXACT [NCIT:C3557] synonym: "malignant clitoral tumour" EXACT OMO:0003005 [] synonym: "malignant clitoris neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3557] synonym: "malignant clitoris tumor" EXACT [NCIT:C3557] synonym: "malignant clitoris tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of clitoris" EXACT [MONDO:patterns/cancer, NCIT:C3557] +synonym: "malignant neoplasm of clitoris" EXACT [DOID:2401, MONDO:patterns/cancer, NCIT:C3557] synonym: "malignant neoplasm of the clitoris" EXACT [NCIT:C3557] synonym: "malignant tumor of clitoris" EXACT [DOID:2401, NCIT:C3557] synonym: "malignant tumor of the clitoris" EXACT [NCIT:C3557] @@ -39402,14 +39403,14 @@ synonym: "granular cell neoplasm of skin" EXACT [NCIT:C5617] synonym: "granular cell neoplasm of the skin" EXACT [DOID:2410, NCIT:C5617] synonym: "granular cell skin tumor" EXACT [NCIT:C5617] synonym: "granular cell skin tumour" EXACT OMO:0003005 [] -synonym: "granular cell tumor of skin" EXACT [NCIT:C5617] +synonym: "granular cell tumor of skin" EXACT [DOID:2410, NCIT:C5617] synonym: "granular cell tumor of the skin" EXACT [NCIT:C5617] synonym: "granular cell tumor of zone of skin" EXACT [MONDO:design_pattern] -synonym: "granular cell tumour of skin" EXACT OMO:0003005 [] +synonym: "granular cell tumour of skin" EXACT OMO:0003005 [DOID:2410] synonym: "granular cell tumour of the skin" EXACT OMO:0003005 [] synonym: "granular cell tumour of zone of skin" EXACT OMO:0003005 [] synonym: "skin granular cell neoplasm" EXACT [NCIT:C5617] -synonym: "skin granular cell tumor" RELATED [DOID:2410] +synonym: "skin granular cell tumor" RELATED [] synonym: "skin granular cell tumour" RELATED OMO:0003005 [] synonym: "zone of skin granular cell tumor" EXACT [MONDO:patterns/location] synonym: "zone of skin granular cell tumour" EXACT OMO:0003005 [] @@ -39437,7 +39438,7 @@ def: "A ganglioneuroma arising from the skin." [NCIT:C4481] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cutaneous ganglioneuroma" EXACT [DOID:2425, NCIT:C4481] -synonym: "ganglioneuroma of skin" EXACT [NCIT:C4481] +synonym: "ganglioneuroma of skin" EXACT [DOID:2425, NCIT:C4481] synonym: "ganglioneuroma of the skin" EXACT [NCIT:C4481] synonym: "skin ganglioneuroma" EXACT [NCIT:C4481] xref: DOID:2425 {source="MONDO:equivalentTo"} @@ -39465,9 +39466,9 @@ synonym: "glomus neoplasm of the skin" EXACT [NCIT:C4491] synonym: "glomus skin neoplasm" EXACT [DOID:2430, NCIT:C4491] synonym: "glomus skin tumor" EXACT [NCIT:C4491] synonym: "glomus skin tumour" EXACT OMO:0003005 [] -synonym: "glomus tumor of skin" EXACT [NCIT:C4491] +synonym: "glomus tumor of skin" EXACT [DOID:2430, NCIT:C4491] synonym: "glomus tumor of the skin" EXACT [NCIT:C4491] -synonym: "glomus tumour of skin" EXACT OMO:0003005 [] +synonym: "glomus tumour of skin" EXACT OMO:0003005 [DOID:2430] synonym: "glomus tumour of the skin" EXACT OMO:0003005 [] synonym: "skin glomus neoplasm" EXACT [NCIT:C4491] synonym: "zone of skin glomus tumor" EXACT [MONDO:patterns/location] @@ -39505,21 +39506,21 @@ synonym: "cutaneous appendage neoplasm" EXACT [] synonym: "cutaneous appendage neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cutaneous appendage tumor" EXACT [MONDO:patterns/neoplasm] synonym: "cutaneous appendage tumour" EXACT OMO:0003005 [] -synonym: "Epidermal appendage neoplasm" EXACT [NCIT:C4463] -synonym: "Epidermal appendage tumor" EXACT [NCIT:C4463] +synonym: "Epidermal appendage neoplasm" EXACT [] +synonym: "Epidermal appendage tumor" EXACT [DOID:2433] synonym: "Epidermal appendage tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cutaneous appendage" EXACT [MONDO:patterns/neoplasm] -synonym: "neoplasm of Epidermal appendage" EXACT [NCIT:C4463] -synonym: "neoplasm of skin appendage" EXACT [NCIT:C4463] +synonym: "neoplasm of Epidermal appendage" EXACT [] +synonym: "neoplasm of skin appendage" EXACT [] synonym: "neoplasm of skin with adnexal differentiation" EXACT [DOID:2433] -synonym: "neoplasm of the skin appendage" EXACT [DOID:2433, NCIT:C4463] +synonym: "neoplasm of the skin appendage" EXACT [DOID:2433] synonym: "skin appendage neoplasm" EXACT [NCIT:C4463] -synonym: "skin appendage tumor" EXACT [DOID:2433, NCIT:C4463] -synonym: "skin appendage tumour" EXACT OMO:0003005 [] +synonym: "skin appendage tumor" EXACT [NCIT:C4463] +synonym: "skin appendage tumour" EXACT OMO:0003005 [DOID:2433] synonym: "tumor of cutaneous appendage" EXACT [MONDO:patterns/neoplasm] -synonym: "tumor of Epidermal appendage" EXACT [NCIT:C4463] -synonym: "tumor of skin appendage" EXACT [NCIT:C4463] -synonym: "tumor of the skin appendage" EXACT [NCIT:C4463] +synonym: "tumor of Epidermal appendage" EXACT [] +synonym: "tumor of skin appendage" EXACT [] +synonym: "tumor of the skin appendage" EXACT [] synonym: "tumour of cutaneous appendage" EXACT OMO:0003005 [] synonym: "tumour of Epidermal appendage" EXACT OMO:0003005 [] synonym: "tumour of skin appendage" EXACT OMO:0003005 [] @@ -39542,9 +39543,9 @@ def: "A glomus tumor arising from the skin. It is characterized by the presence subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cutaneous glomangioma" EXACT [DOID:2435, NCIT:C6750] -synonym: "glomangioma of skin" EXACT [NCIT:C6750] +synonym: "glomangioma of skin" EXACT [DOID:2435, NCIT:C6750] synonym: "glomangioma of the skin" EXACT [NCIT:C6750] -synonym: "skin glomangioma" EXACT [NCIT:C6750] +synonym: "skin glomangioma" EXACT [DOID:2435, NCIT:C6750] synonym: "zone of skin glomangioma" EXACT [MONDO:patterns/location] xref: DOID:2435 {source="MONDO:equivalentTo"} xref: MEDGEN:266155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -39563,7 +39564,7 @@ name: glomangioma def: "A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions." [NCIT:C4222] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glomangioma" EXACT [NCIT:C4222] +synonym: "glomangioma" EXACT [DOID:2436, NCIT:C4222] xref: DOID:2436 {source="MONDO:equivalentTo"} xref: ICDO:8712/0 {source="NCIT:C4222"} xref: MEDGEN:87239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -39585,12 +39586,12 @@ synonym: "dermal tumor" EXACT [NCIT:C4475] synonym: "dermal tumour" EXACT OMO:0003005 [] synonym: "dermis neoplasm" EXACT [] synonym: "dermis neoplasm (disease)" EXACT [MONDO:patterns/location] -synonym: "dermis tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "dermis tumor" EXACT [DOID:2438, MONDO:patterns/neoplasm] synonym: "neoplasm of dermis" EXACT [DOID:2438, MONDO:patterns/neoplasm, NCIT:C4475] synonym: "neoplasm of the dermis" EXACT [NCIT:C4475] synonym: "tumor of dermis" EXACT [DOID:2438, MONDO:patterns/neoplasm, NCIT:C4475] synonym: "tumor of the dermis" EXACT [NCIT:C4475] -synonym: "tumour of dermis" EXACT OMO:0003005 [] +synonym: "tumour of dermis" EXACT OMO:0003005 [DOID:2438] synonym: "tumour of the dermis" EXACT OMO:0003005 [] xref: DOID:2438 {source="MONDO:equivalentTo"} xref: MEDGEN:91075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -39610,7 +39611,7 @@ subset: rare synonym: "epidermoid carcinoma of frontal sinus" EXACT [NCIT:C6067] synonym: "epidermoid carcinoma of the frontal sinus" EXACT [DOID:2441, NCIT:C6067] synonym: "frontal sinus epidermoid carcinoma" EXACT [NCIT:C6067] -synonym: "frontal sinus squamous cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "frontal sinus squamous cell carcinoma" EXACT [DOID:2441, MONDO:patterns/location, NCIT:C6067] synonym: "squamous cell carcinoma of frontal sinus" EXACT [NCIT:C6067] synonym: "squamous cell carcinoma of the frontal sinus" EXACT [NCIT:C6067] xref: DOID:2441 {source="MONDO:equivalentTo"} @@ -39665,8 +39666,8 @@ comment: Editor note: TODO axiomatize subset: gard_rare {source="GARD:4524", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Protein S deficiency" EXACT [DOID:2451] -synonym: "Protein S deficiency disease" EXACT [NCIT:C99026] +synonym: "Protein S deficiency" EXACT [DOID:2451, NCIT:C99026] +synonym: "Protein S deficiency disease" EXACT [DOID:2451, NCIT:C99026] xref: DOID:2451 {source="MONDO:equivalentTo"} xref: GARD:4524 {source="MONDO:GARD"} xref: HGNC:9456 {source="GARD:0004524"} @@ -39693,7 +39694,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "excessive blood clotting" EXACT [NCIT:C84479] synonym: "hypercoagulability" EXACT [NCIT:C84479] -synonym: "hypercoagulability state" EXACT [DOID:2452] +synonym: "hypercoagulability state" EXACT [DOID:2452, NCIT:C84479] synonym: "hypercoagulable" EXACT [NCIT:C84479] xref: DOID:2452 {source="MONDO:equivalentTo"} xref: EFO:0009315 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -39814,7 +39815,7 @@ name: opportunistic mycosis def: "A mycosis that arises from infection in an immunologically compromised host." [https://www.ncbi.nlm.nih.gov/books/NBK7902] subset: otar {source="MONDO:OTAR"} synonym: "opportunistic mycoses" EXACT [DOID:2473] -synonym: "opportunistic systemic mycoses" NARROW [DOID:2473] +synonym: "opportunistic systemic mycoses" NARROW [] xref: DOID:2473 {source="MONDO:equivalentTo"} xref: ICD9:117.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:118 {source="DOID:2473", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -39851,9 +39852,9 @@ id: MONDO:0002314 name: chronic conjunctivitis def: "Conjunctivitis that is persistent and long-standing." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "chronic conjunctivitis" EXACT [DOID:2475, NCIT:C35197] +synonym: "chronic conjunctivitis" EXACT [DOID:2475, ICD10CM:H10.4, NCIT:C35197] synonym: "chronic conjunctivitis (disease)" EXACT [] -synonym: "chronic conjunctivitis, unspecified" EXACT [DOID:2475, ICD9CM:372.10] +synonym: "chronic conjunctivitis, unspecified" EXACT [ICD9CM:372.10] synonym: "conjunctivitis (disease), chronic" EXACT [MONDO:patterns/chronic] xref: DOID:2475 {source="MONDO:equivalentTo"} xref: ICD10CM:H10.4 {source="DOID:2475", source="MONDO:equivalentTo"} @@ -39885,11 +39886,11 @@ def: "Inflammation or degeneration of the peripheral motor nerves." [NCIT:C3500] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary motor and sensory neuropathy" NARROW [DOID:2477] -synonym: "HSMN" NARROW ABBREVIATION [DOID:2477] -synonym: "HSMN - hereditary sensory and motor neuropathy" NARROW [DOID:2477] -synonym: "neuropathic muscular atrophy" RELATED [DOID:2477] -synonym: "peripheral motor neuropathy" EXACT [NCIT:C3500] +synonym: "hereditary motor and sensory neuropathy" NARROW [] +synonym: "HSMN" NARROW ABBREVIATION [] +synonym: "HSMN - hereditary sensory and motor neuropathy" NARROW [] +synonym: "neuropathic muscular atrophy" RELATED [] +synonym: "peripheral motor neuropathy" EXACT [DOID:2477, NCIT:C3500] xref: DOID:2477 {source="MONDO:equivalentTo"} xref: ICD10CM:G60.0 {source="DOID:2477"} xref: ICD9:356.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -39930,12 +39931,12 @@ name: trachea leiomyoma def: "A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378] synonym: "leiomyoma of the trachea" EXACT [DOID:248, NCIT:C6049] synonym: "leiomyoma of trachea" EXACT [NCIT:C6049] -synonym: "neoplasm of trachea" RELATED EXCLUDE [DOID:248] -synonym: "trachea leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6049] -synonym: "trachea neoplasm" BROAD [DOID:248] +synonym: "neoplasm of trachea" RELATED EXCLUDE [] +synonym: "trachea leiomyoma" EXACT [DOID:248, MONDO:patterns/location, NCIT:C6049] +synonym: "trachea neoplasm" BROAD [] synonym: "tracheal leiomyoma" EXACT [NCIT:C6049] -synonym: "tracheal neoplasm" BROAD [DOID:248] -synonym: "tracheal tumor" BROAD [DOID:248, NCIT:C3419] +synonym: "tracheal neoplasm" BROAD [] +synonym: "tracheal tumor" BROAD [] synonym: "tracheal tumour" BROAD OMO:0003005 [] xref: DOID:248 {source="MONDO:equivalentTo"} xref: MEDGEN:237015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -40027,7 +40028,7 @@ id: MONDO:0002322 name: angiodysplasia def: "Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia." [MESH:D016888] synonym: "angiodysplasia of stomach and duodenum with haemorrhage" NARROW OMO:0003005 [] -synonym: "angiodysplasia of stomach and duodenum with hemorrhage" NARROW [DOID:2494] +synonym: "angiodysplasia of stomach and duodenum with hemorrhage" NARROW [] xref: DOID:2494 {source="MONDO:equivalentTo"} xref: ICD9:537.83 {source="DOID:2494"} xref: MEDGEN:88403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -40044,7 +40045,7 @@ name: cherry hemangioma def: "A capillary hemangioma of the skin, presenting as a red papular lesion." [NCIT:C4390] synonym: "cherry angioma" EXACT [NCIT:C4390] synonym: "cherry hemangioma" EXACT [NCIT:C4390] -synonym: "Senile angioma" EXACT [NCIT:C4390] +synonym: "Senile angioma" EXACT [DOID:2495, NCIT:C4390] synonym: "Senile hemangioma" EXACT [DOID:2495, NCIT:C4390] synonym: "Senile naevus of skin" EXACT [DOID:2495] xref: DOID:2495 {source="MONDO:equivalentTo"} @@ -40070,9 +40071,9 @@ id: MONDO:0002325 name: tooth erosion, non-bacterial def: "Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" [MESH:D014077-modified] synonym: "generalised erosion" RELATED OMO:0003005 [] -synonym: "generalized erosion" RELATED [DOID:2498] +synonym: "generalized erosion" RELATED [] synonym: "localised erosion" RELATED OMO:0003005 [] -synonym: "localized erosion" RELATED [DOID:2498] +synonym: "localized erosion" RELATED [] synonym: "tooth erosion" EXACT [DOID:2498] xref: DOID:2498 {source="MONDO:equivalentTo"} xref: ICD10CM:K03.2 {source="DOID:2498"} @@ -40110,7 +40111,7 @@ def: "A cavernous hemangioma arising from the brain and meninges." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "intracranial cavernoma" EXACT [DOID:2516, NCIT:C5432] -synonym: "intracranial cavernous angioma" EXACT [NCIT:C5432] +synonym: "intracranial cavernous angioma" EXACT [DOID:2516, NCIT:C5432] synonym: "intracranial cavernous hemangioma" EXACT [NCIT:C5432] xref: DOID:2516 {source="MONDO:equivalentTo"} xref: MEDGEN:232659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -40130,12 +40131,12 @@ synonym: "angioma of intracranial structure" EXACT [DOID:2517, NCIT:C3633] synonym: "angioma of the intracranial structure" EXACT [NCIT:C3633] synonym: "brain hemangioma" BROAD [MONDO:patterns/location] synonym: "hemangioma of brain" EXACT [MONDO:design_pattern] -synonym: "hemangioma of intracranial structure" EXACT [NCIT:C3633] -synonym: "hemangioma of intracranial structures" EXACT [DOID:2517, ICD9CM:228.02] +synonym: "hemangioma of intracranial structure" EXACT [DOID:2517, NCIT:C3633] +synonym: "hemangioma of intracranial structures" EXACT [DOID:2517, ICD10CM:D18.02, ICD9CM:228.02] synonym: "hemangioma of the intracranial structure" EXACT [NCIT:C3633] synonym: "intracranial angioma" EXACT [NCIT:C3633] synonym: "intracranial hemangioma" EXACT [NCIT:C3633] -synonym: "intracranial structure hemangioma" RELATED [DOID:2517] +synonym: "intracranial structure hemangioma" RELATED [] xref: DOID:2517 {source="MONDO:equivalentTo"} xref: ICD10CM:D18.02 {source="MONDO:equivalentTo", source="DOID:2517"} xref: ICD9:228.02 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:2517"} @@ -40156,7 +40157,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of testis" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of testis" EXACT [] synonym: "disorder of testis" EXACT [DOID:2519, MONDO:patterns/location_top] -synonym: "testicular disease" EXACT [NCIT:C26890] +synonym: "testicular disease" EXACT [DOID:2519, NCIT:C26890] synonym: "testicular disorder" EXACT [NCIT:C26890] synonym: "testis disease" EXACT [MONDO:patterns/location] synonym: "testis disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -40227,8 +40228,8 @@ synonym: "Dyssplenism" EXACT [DOID:2529] synonym: "spleen disease" EXACT [DOID:2529, MONDO:patterns/location] synonym: "spleen disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "spleen disorder" EXACT [NCIT:C35823] -synonym: "splenic disease" EXACT [] -synonym: "splenic disorder" EXACT [] +synonym: "splenic disease" EXACT [DOID:2529] +synonym: "splenic disorder" EXACT [NCIT:C35823] xref: DOID:2529 {source="MONDO:equivalentTo"} xref: EFO:0009002 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:D73 {source="MONDO:equivalentTo", source="DOID:2529"} @@ -40254,7 +40255,7 @@ name: splenic abscess def: "An abscess that is located in the spleen." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "splenic abscess" EXACT [MONDO:ambiguous] +synonym: "splenic abscess" EXACT [DOID:2530, MONDO:ambiguous, NCIT:C35347] synonym: "splenic abscess (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2530 {source="MONDO:equivalentTo"} xref: HP:0025059 {source="MONDO:otherHierarchy"} @@ -40277,7 +40278,7 @@ def: "Neoplasms of the hematopoietic system, including hematopoietic cell neopla subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "blood cancer" NARROW [DOID:2531] +synonym: "blood cancer" NARROW [] synonym: "blood neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "blood tumor" EXACT [MONDO:patterns/neoplasm] synonym: "blood tumour" EXACT OMO:0003005 [] @@ -40289,22 +40290,22 @@ synonym: "haematopoietic neoplasm (morphologic abnormality)" BROAD OMO:0003005 [ synonym: "haematopoietic system neoplasm" EXACT OMO:0003005 [] synonym: "haematopoietic system tumour" EXACT OMO:0003005 [] synonym: "haematopoietic tumours" EXACT OMO:0003005 [] -synonym: "hematologic cancer" RELATED [DOID:2531] -synonym: "hematologic malignancy" NARROW [DOID:2531] -synonym: "hematologic neoplasm" BROAD [DOID:2531] -synonym: "hematological tumors" EXACT [DOID:2531, NCIT:C27134] +synonym: "hematologic cancer" RELATED [] +synonym: "hematologic malignancy" NARROW [] +synonym: "hematologic neoplasm" BROAD [] +synonym: "hematological tumors" EXACT [DOID:2531] synonym: "hematopoietic and lymphoid system neoplasm" EXACT [NCIT:C35813] synonym: "hematopoietic and lymphoid system tumor" EXACT [DOID:2531, NCIT:C35813] -synonym: "hematopoietic cancer" NARROW [DOID:2531] -synonym: "hematopoietic neoplasm" BROAD [DOID:2531] -synonym: "hematopoietic neoplasm (morphologic abnormality)" BROAD [DOID:2531] +synonym: "hematopoietic cancer" NARROW [] +synonym: "hematopoietic neoplasm" BROAD [] +synonym: "hematopoietic neoplasm (morphologic abnormality)" BROAD [] synonym: "hematopoietic system neoplasm" EXACT [] synonym: "hematopoietic system tumor" EXACT [MONDO:patterns/neoplasm] -synonym: "hematopoietic tumors" EXACT [DOID:2531, NCIT:C27134] +synonym: "hematopoietic tumors" EXACT [DOID:2531] synonym: "malignant haematopoietic neoplasm" RELATED OMO:0003005 [] synonym: "malignant haematopoietic neoplasm (morphologic abnormality)" NARROW OMO:0003005 [] -synonym: "malignant hematopoietic neoplasm" RELATED EXCLUDE [DOID:2531] -synonym: "malignant hematopoietic neoplasm (morphologic abnormality)" NARROW [DOID:2531] +synonym: "malignant hematopoietic neoplasm" RELATED EXCLUDE [] +synonym: "malignant hematopoietic neoplasm (morphologic abnormality)" NARROW [] synonym: "neoplasm of blood" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of haematopoietic system" EXACT OMO:0003005 [] synonym: "neoplasm of hematopoietic system" EXACT [MONDO:patterns/neoplasm] @@ -40361,8 +40362,8 @@ name: intra-abdominal hemangioma def: "A hemangioma arising from organs within the abdominal cavity." [NCIT:C3635] synonym: "abdominal cavity hemangioma" EXACT [MONDO:patterns/location] synonym: "hemangioma of abdominal cavity" EXACT [MONDO:design_pattern] -synonym: "hemangioma of intra-abdominal structure" EXACT [NCIT:C3635] -synonym: "hemangioma of intra-abdominal structures" EXACT [DOID:254, ICD9CM:228.04] +synonym: "hemangioma of intra-abdominal structure" EXACT [DOID:254, NCIT:C3635] +synonym: "hemangioma of intra-abdominal structures" EXACT [DOID:254, ICD10CM:D18.03, ICD9CM:228.04] synonym: "hemangioma, intra-abdominal" EXACT [DOID:254, NCIT:C3635] synonym: "intra-abdominal hemangioma" EXACT [NCIT:C3635] xref: DOID:254 {source="MONDO:equivalentTo"} @@ -40449,7 +40450,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "angioma of spleen" EXACT [NCIT:C8541] synonym: "angioma of the spleen" EXACT [NCIT:C8541] -synonym: "hemangioma of spleen" EXACT [NCIT:C8541] +synonym: "hemangioma of spleen" EXACT [DOID:256, NCIT:C8541] synonym: "hemangioma of the spleen" EXACT [NCIT:C8541] synonym: "spleen angioma" EXACT [NCIT:C8541] synonym: "spleen hemangioma" EXACT [MONDO:patterns/location, NCIT:C8541] @@ -40478,7 +40479,7 @@ id: MONDO:0002345 name: cervicitis def: "An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "cervicitis" EXACT [MONDO:ambiguous] +synonym: "cervicitis" EXACT [DOID:2568, icd11.foundation:1433247301, MONDO:ambiguous, NCIT:C26716] synonym: "cervicitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2568 {source="MONDO:equivalentTo"} xref: HP:0030160 {source="MONDO:otherHierarchy"} @@ -40560,13 +40561,13 @@ def: "A malignant neoplasm that affects the glottic area of the larynx. The vast subset: otar {source="MONDO:OTAR"} synonym: "Ca larynx - glottis" EXACT [DOID:2595] synonym: "cancer of glottis" EXACT [MONDO:patterns/cancer] -synonym: "glottis cancer" EXACT [MONDO:patterns/location] +synonym: "glottis cancer" EXACT [DOID:2595, MONDO:patterns/location] synonym: "malignant glottis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3544] synonym: "malignant glottis tumor" EXACT [NCIT:C3544] synonym: "malignant glottis tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of glottis" EXACT [MONDO:patterns/cancer, NCIT:C3544] synonym: "malignant neoplasm of the glottis" EXACT [NCIT:C3544] -synonym: "malignant tumor of glottis" EXACT [NCIT:C3544] +synonym: "malignant tumor of glottis" EXACT [DOID:2595, NCIT:C3544] synonym: "malignant tumor of the glottis" EXACT [DOID:2595, NCIT:C3544] synonym: "malignant tumour of glottis" EXACT OMO:0003005 [] synonym: "malignant tumour of the glottis" EXACT OMO:0003005 [] @@ -40590,7 +40591,7 @@ name: larynx cancer def: "A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas." [NCIT:C7484] subset: otar {source="MONDO:OTAR"} synonym: "cancer of larynx" EXACT [MONDO:patterns/cancer] -synonym: "larynx cancer" EXACT [MONDO:patterns/location] +synonym: "larynx cancer" EXACT [DOID:2596, MONDO:patterns/location] synonym: "malignant laryngeal neoplasm" EXACT [NCIT:C7484] synonym: "malignant laryngeal tumor" EXACT [NCIT:C7484] synonym: "malignant laryngeal tumour" EXACT OMO:0003005 [] @@ -40629,11 +40630,11 @@ id: MONDO:0002353 name: glottis neoplasm def: "A benign or malignant neoplasm that affects the glottic area of the larynx." [NCIT:C4425] subset: otar {source="MONDO:OTAR"} -synonym: "glottis neoplasm" EXACT [NCIT:C4425] +synonym: "glottis neoplasm" EXACT [DOID:2597, NCIT:C4425] synonym: "glottis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "glottis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4425] synonym: "glottis tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of glottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4425] +synonym: "neoplasm of glottis" EXACT [DOID:2597, MONDO:patterns/neoplasm, NCIT:C4425] synonym: "neoplasm of the glottis" EXACT [NCIT:C4425] synonym: "tumor of glottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4425] synonym: "tumor of the glottis" EXACT [DOID:2597, NCIT:C4425] @@ -40665,13 +40666,13 @@ synonym: "benign tumor of larynx" EXACT [NCIT:C3601] synonym: "benign tumor of the larynx" EXACT [NCIT:C3601] synonym: "benign tumour of larynx" EXACT OMO:0003005 [] synonym: "benign tumour of the larynx" EXACT OMO:0003005 [] -synonym: "laryngeal benign neoplasm" RELATED [DOID:2598] +synonym: "laryngeal benign neoplasm" RELATED [] synonym: "laryngeal neoplasm, benign" EXACT [NCIT:C3601] -synonym: "laryngeal tumor" BROAD [DOID:2598, NCIT:C3156] +synonym: "laryngeal tumor" BROAD [] synonym: "laryngeal tumour" BROAD OMO:0003005 [] synonym: "larynx benign neoplasm" EXACT [MONDO:patterns/location] -synonym: "larynx neoplasm" BROAD [DOID:2598] -synonym: "neoplasm of larynx" RELATED EXCLUDE [DOID:2598] +synonym: "larynx neoplasm" BROAD [] +synonym: "neoplasm of larynx" RELATED EXCLUDE [] xref: DOID:2598 {source="MONDO:equivalentTo"} xref: ICD9:212.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:56325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -40690,14 +40691,14 @@ id: MONDO:0002355 name: glottis carcinoma def: "A carcinoma that arises from epithelial cells of the glottis." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of glottis" BROAD [NCIT:C4923] -synonym: "cancer of the glottis" BROAD [NCIT:C4923] -synonym: "carcinoma of glottis" EXACT [MONDO:patterns/carcinoma, NCIT:C4923] +synonym: "cancer of glottis" BROAD [] +synonym: "cancer of the glottis" BROAD [] +synonym: "carcinoma of glottis" EXACT [DOID:2599, MONDO:patterns/carcinoma, NCIT:C4923] synonym: "carcinoma of the glottis" EXACT [NCIT:C4923] synonym: "glottic carcinoma" EXACT [DOID:2599, NCIT:C4923] -synonym: "glottic throat cancer" BROAD [NCIT:C4923] -synonym: "glottis cancer" BROAD [NCIT:C4923] -synonym: "glottis carcinoma" EXACT [MONDO:patterns/location, NCIT:C4923] +synonym: "glottic throat cancer" BROAD [] +synonym: "glottis cancer" BROAD [] +synonym: "glottis carcinoma" EXACT [DOID:2599, MONDO:patterns/location, NCIT:C4923] xref: DOID:2599 {source="MONDO:equivalentTo"} xref: MEDGEN:152820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4923 {source="MONDO:equivalentTo", source="DOID:2599"} @@ -40719,7 +40720,7 @@ synonym: "disease or disorder of pancreas" EXACT [] synonym: "disease, pancreatic" RELATED [MESH:D010182] synonym: "diseases, pancreatic" RELATED [MESH:D010182] synonym: "disorder of pancreas" EXACT [MONDO:patterns/location_top] -synonym: "pancreas disease" EXACT [MONDO:patterns/location] +synonym: "pancreas disease" EXACT [DOID:26, MONDO:patterns/location] synonym: "pancreas disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "pancreatic disease" RELATED [MESH:D010182] synonym: "pancreatic disorder" EXACT [NCIT:C26842] @@ -40770,13 +40771,13 @@ id: MONDO:0002358 name: laryngeal carcinoma def: "Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation." [NCIT:C4855] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of larynx" BROAD [DOID:2600, NCIT:C4855] -synonym: "cancer of the larynx" BROAD [NCIT:C4855] -synonym: "carcinoma of larynx" EXACT [MONDO:patterns/carcinoma, NCIT:C4855] +synonym: "cancer of larynx" BROAD [] +synonym: "cancer of the larynx" BROAD [] +synonym: "carcinoma of larynx" EXACT [DOID:2600, MONDO:patterns/carcinoma, NCIT:C4855] synonym: "carcinoma of the larynx" EXACT [NCIT:C4855] -synonym: "laryngeal cancer" BROAD [NCIT:C4855] -synonym: "laryngeal carcinoma" EXACT [NCIT:C4855] -synonym: "laryngeal throat cancer" BROAD [NCIT:C4855] +synonym: "laryngeal cancer" BROAD [] +synonym: "laryngeal carcinoma" EXACT [DOID:2600, NCIT:C4855] +synonym: "laryngeal throat cancer" BROAD [] synonym: "larynx carcinoma" EXACT [MONDO:patterns/location, NCIT:C4855] xref: DOID:2600 {source="MONDO:equivalentTo"} xref: MEDGEN:108889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -40797,8 +40798,8 @@ def: "A benign neoplasm of bone surface composed of hyaline cartilage. It arises subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "juxtacortical chondroma" EXACT [NCIT:C4302] -synonym: "juxtacortical chondroma (morphologic abnormality)" EXACT [DOID:2601] +synonym: "juxtacortical chondroma" EXACT [DOID:2601, NCIT:C4302] +synonym: "juxtacortical chondroma (morphologic abnormality)" EXACT [] synonym: "periosteal chondroma" EXACT [DOID:2601, NCIT:C4302] xref: DOID:2601 {source="MONDO:equivalentTo"} xref: ICDO:9221/0 {source="NCIT:C4302"} @@ -40817,8 +40818,8 @@ id: MONDO:0002360 name: chondroma def: "A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes." [NCIT:C53459] subset: otar {source="MONDO:OTAR"} -synonym: "central chondroma" EXACT [DOID:2602, NCIT:C3007] -synonym: "chondroma" EXACT [NCIT:C53459] +synonym: "central chondroma" EXACT [DOID:2602] +synonym: "chondroma" EXACT [DOID:2602, NCIT:C53459] synonym: "chondroma, benign" EXACT [NCIT:C53459] xref: DOID:2602 {source="MONDO:equivalentTo"} xref: ICDO:9220/0 {source="NCIT:C53459"} @@ -40848,7 +40849,7 @@ synonym: "malignant neoplasm of transverse colon" EXACT [MONDO:patterns/cancer] synonym: "malignant transverse colon neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of transverse colon" EXACT [DOID:261] synonym: "malignant tumour of transverse colon" EXACT OMO:0003005 [] -synonym: "transverse colon cancer" EXACT [MONDO:patterns/location] +synonym: "transverse colon cancer" EXACT [DOID:261, MONDO:patterns/location] xref: DOID:261 {source="MONDO:equivalentTo"} xref: ICD10CM:C18.4 {source="DOID:261"} xref: ICD9:153.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:261"} @@ -40867,8 +40868,8 @@ id: MONDO:0002362 name: serous surface papilloma def: "A non-invasive papillary serous epithelial neoplasm usually arising from the ovary." [NCIT:C4181] synonym: "serous surface papilloma" EXACT [DOID:2614, NCIT:C4181] -synonym: "serous surface papilloma (morphologic abnormality)" EXACT [DOID:2614] -synonym: "serous surface papilloma NOS (morphologic abnormality)" EXACT [DOID:2614] +synonym: "serous surface papilloma (morphologic abnormality)" EXACT [] +synonym: "serous surface papilloma NOS (morphologic abnormality)" EXACT [] xref: DOID:2614 {source="MONDO:equivalentTo"} xref: ICDO:8461/0 {source="NCIT:C4181"} xref: MEDGEN:90770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -40884,12 +40885,12 @@ id: MONDO:0002363 name: papilloma def: "A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma." [NCIT:C7440] subset: otar {source="MONDO:OTAR"} -synonym: "papilloma" EXACT [NCIT:C7440] -synonym: "papilloma (except papilloma of bladder M-81201) (morphologic abnormality)" EXACT [DOID:2615] +synonym: "papilloma" EXACT [DOID:2615, NCIT:C7440] +synonym: "papilloma (except papilloma of bladder M-81201) (morphologic abnormality)" EXACT [] synonym: "papilloma, benign" EXACT [NCIT:C7440] -synonym: "papillomatosis" RELATED EXCLUDE [DOID:2615] -synonym: "papillomatosis NOS (morphologic abnormality)" RELATED [DOID:2615] -synonym: "papillomatosis, NOS" RELATED EXCLUDE [DOID:2615] +synonym: "papillomatosis" RELATED EXCLUDE [] +synonym: "papillomatosis NOS (morphologic abnormality)" RELATED [] +synonym: "papillomatosis, NOS" RELATED EXCLUDE [] xref: DOID:2615 {source="MONDO:equivalentTo"} xref: ICDO:8050/0 {source="NCIT:C7440"} xref: MEDGEN:10566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -40915,9 +40916,9 @@ replaced_by: MONDO:0024889 id: MONDO:0002365 name: kidney hemangiopericytoma def: "A hemangiopericytoma arising from the kidney." [NCIT:P378] -synonym: "hemangiopericytoma of kidney" EXACT [NCIT:C4527] +synonym: "hemangiopericytoma of kidney" EXACT [DOID:262, NCIT:C4527] synonym: "hemangiopericytoma of the kidney" EXACT [NCIT:C4527] -synonym: "kidney hemangiopericytoma" EXACT [MONDO:patterns/location] +synonym: "kidney hemangiopericytoma" EXACT [DOID:262, MONDO:patterns/location, NCIT:C4527] synonym: "kidney spindle cell tumor" EXACT [MONDO:patterns/location] synonym: "kidney spindle cell tumour" EXACT OMO:0003005 [] synonym: "renal hemangiopericytoma" EXACT [DOID:262, NCIT:C4527] @@ -40934,7 +40935,7 @@ intersection_of: disease_has_location UBERON:0002113 ! kidney id: MONDO:0002366 name: autonomic nervous system neoplasm def: "Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system." [NCIT:C5112] -synonym: "autonomic nervous system neoplasm" EXACT [NCIT:C5112] +synonym: "autonomic nervous system neoplasm" EXACT [DOID:2621, NCIT:C5112] synonym: "autonomic nervous system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "autonomic nervous system neoplasms" EXACT [NCIT:C5112] synonym: "autonomic nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5112] @@ -40959,7 +40960,7 @@ name: kidney cancer def: "Primary or metastatic malignant neoplasm involving the kidney." [NCIT:C7548] subset: otar {source="MONDO:OTAR"} synonym: "cancer of kidney" EXACT [MONDO:patterns/cancer] -synonym: "kidney cancer" EXACT [MONDO:patterns/location] +synonym: "kidney cancer" EXACT [DOID:263, MONDO:patterns/location] synonym: "malignant kidney neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7548] synonym: "malignant kidney tumor" EXACT [NCIT:C7548] synonym: "malignant kidney tumour" EXACT OMO:0003005 [] @@ -40969,11 +40970,11 @@ synonym: "malignant neoplasm of the kidney" EXACT [NCIT:C7548] synonym: "malignant renal neoplasm" EXACT [NCIT:C7548] synonym: "malignant renal tumor" EXACT [NCIT:C7548] synonym: "malignant renal tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of kidney" EXACT [DOID:263, NCIT:C7548] +synonym: "malignant tumor of kidney" EXACT [NCIT:C7548] synonym: "malignant tumor of the kidney" EXACT [NCIT:C7548] -synonym: "malignant tumour of kidney" EXACT OMO:0003005 [] +synonym: "malignant tumour of kidney" EXACT OMO:0003005 [DOID:263] synonym: "malignant tumour of the kidney" EXACT OMO:0003005 [] -synonym: "renal cancer" RELATED EXCLUDE [DOID:263] +synonym: "renal cancer" RELATED EXCLUDE [] xref: DOID:263 {source="MONDO:equivalentTo"} xref: ICD10CM:C64 {source="DOID:263"} xref: ICD9:189.0 {source="DOID:263"} @@ -40998,12 +40999,12 @@ id: MONDO:0002368 name: papillary serous cystadenocarcinoma def: "A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present." [NCIT:C8377] subset: otar {source="MONDO:OTAR"} -synonym: "micropapillary serous carcinoma" NARROW [DOID:2632, NCIT:C6882] -synonym: "papillary serous adenocarcinoma" EXACT [NCIT:C8377] -synonym: "papillary serous carcinoma" BROAD [DOID:2632, NCIT:C8377] +synonym: "micropapillary serous carcinoma" NARROW [] +synonym: "papillary serous adenocarcinoma" EXACT [DOID:2632, NCIT:C8377] +synonym: "papillary serous carcinoma" BROAD [] synonym: "papillary serous cystadenocarcinoma" EXACT [NCIT:C8377] -synonym: "serous surface papillary carcinoma" RELATED EXCLUDE [DOID:2632] -synonym: "serous surface papillary carcinoma (morphologic abnormality)" EXACT [DOID:2632] +synonym: "serous surface papillary carcinoma" RELATED EXCLUDE [] +synonym: "serous surface papillary carcinoma (morphologic abnormality)" EXACT [] xref: DOID:2632 {source="MONDO:equivalentTo"} xref: ICDO:8460/3 {source="NCIT:C8377"} xref: MEDGEN:825029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -41023,8 +41024,8 @@ id: MONDO:0002369 name: cystadenoma def: "A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas." [NCIT:C2972] subset: otar {source="MONDO:OTAR"} -synonym: "cystadenoma" EXACT [NCIT:C2972] -synonym: "cystadenoma (morphologic abnormality)" EXACT [DOID:2634] +synonym: "cystadenoma" EXACT [DOID:2634, NCIT:C2972] +synonym: "cystadenoma (morphologic abnormality)" EXACT [] synonym: "cystadenoma, benign" EXACT [NCIT:C2972] synonym: "cystoma" EXACT [DOID:2634, NCIT:C2972] xref: DOID:2634 {source="MONDO:equivalentTo"} @@ -41044,18 +41045,18 @@ relationship: disease_arises_from_structure UBERON:0006799 {source="NCIT:C2972"} id: MONDO:0002370 name: ovarian Brenner tumor def: "A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature." [NCIT:C3872] -synonym: "benign ovarian Brenner tumor" NARROW [DOID:2636] +synonym: "benign ovarian Brenner tumor" NARROW [] synonym: "benign ovarian Brenner tumour" NARROW OMO:0003005 [] synonym: "Brenner neoplasm of ovary" EXACT [NCIT:C3872] synonym: "Brenner neoplasm of the ovary" EXACT [NCIT:C3872] -synonym: "Brenner tumor" BROAD [NCIT:C3872] +synonym: "Brenner tumor" BROAD [] synonym: "Brenner tumor of ovary" EXACT [NCIT:C3872] synonym: "Brenner tumor of the ovary" EXACT [NCIT:C3872] synonym: "Brenner tumour" BROAD OMO:0003005 [] synonym: "Brenner tumour of ovary" EXACT OMO:0003005 [] synonym: "Brenner tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian Brenner neoplasm" EXACT [NCIT:C3872] -synonym: "ovarian Brenner tumor" EXACT [NCIT:C3872] +synonym: "ovarian Brenner tumor" EXACT [DOID:2636, NCIT:C3872] synonym: "ovary Brenner tumor" EXACT [MONDO:patterns/location] synonym: "ovary Brenner tumour" EXACT OMO:0003005 [] xref: DOID:2636 {source="MONDO:equivalentTo"} @@ -41080,10 +41081,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0002371 name: breast pericanalicular fibroadenoma def: "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures." [NCIT:C4272] -synonym: "breast pericanalicular fibroadenoma" EXACT [NCIT:C4272] +synonym: "breast pericanalicular fibroadenoma" EXACT [DOID:2639, NCIT:C4272] synonym: "pericanalicular breast fibroadenoma" EXACT [NCIT:C4272] -synonym: "pericanalicular fibroadenoma" EXACT [NCIT:C4272] -synonym: "pericanalicular fibroadenoma (morphologic abnormality)" EXACT [DOID:2639] +synonym: "pericanalicular fibroadenoma" EXACT [DOID:2639, NCIT:C4272] +synonym: "pericanalicular fibroadenoma (morphologic abnormality)" EXACT [] synonym: "pericanalicular fibroadenoma of breast" EXACT [DOID:2639, NCIT:C4272] synonym: "pericanalicular fibroadenoma of the breast" EXACT [NCIT:C4272] xref: DOID:2639 {source="MONDO:equivalentTo"} @@ -41101,7 +41102,7 @@ def: "A teratoma of the ovary composed exclusively or predominantly of a single subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ovarian germ cell monodermal and highly specialised teratoma" EXACT OMO:0003005 [] -synonym: "ovarian germ cell monodermal and highly specialized teratoma" EXACT [NCIT:C8113] +synonym: "ovarian germ cell monodermal and highly specialized teratoma" EXACT [DOID:2641, NCIT:C8113] synonym: "ovarian monodermal and highly specialized teratoma" EXACT [DOID:2641, NCIT:C8113] xref: DOID:2641 {source="MONDO:equivalentTo"} xref: MEDGEN:83601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -41114,7 +41115,7 @@ id: MONDO:0002373 name: benign mesothelioma def: "A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body." [PMID:30285380] synonym: "benign tumor of mesothelial tissue" EXACT [] -synonym: "benign tumor of mesothelium" EXACT [DOID:2645, NCIT:C4280] +synonym: "benign tumor of mesothelium" EXACT [DOID:2645] synonym: "benign tumour of mesothelial tissue" EXACT OMO:0003005 [] synonym: "benign tumour of mesothelium" EXACT OMO:0003005 [] synonym: "mesothelioma, benign" EXACT [MONDO:patterns/benign] @@ -41150,9 +41151,9 @@ subset: otar {source="MONDO:OTAR"} synonym: "adenoma of sebaceous gland" EXACT [NCIT:C4174] synonym: "adenoma of the sebaceous gland" EXACT [DOID:2648, NCIT:C4174] synonym: "adenoma, sebaceous, benign" EXACT [NCIT:C4174] -synonym: "sebaceous adenoma (morphologic abnormality)" EXACT [DOID:2648] -synonym: "sebaceous gland adenoma" EXACT [MONDO:patterns/location] -synonym: "skin appendage sebaceous adenoma" EXACT [DOID:2648] +synonym: "sebaceous adenoma (morphologic abnormality)" EXACT [] +synonym: "sebaceous gland adenoma" EXACT [MONDO:patterns/location, NCIT:C4174] +synonym: "skin appendage sebaceous adenoma" EXACT [DOID:2648, NCIT:C4174] xref: DOID:2648 {source="MONDO:equivalentTo"} xref: ICDO:8410/0 {source="NCIT:C4174"} xref: MEDGEN:237152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -41173,7 +41174,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "angiosarcoma (disease) of spleen" EXACT [] -synonym: "angiosarcoma of spleen" EXACT [NCIT:C4564] +synonym: "angiosarcoma of spleen" EXACT [DOID:265, NCIT:C4564] synonym: "angiosarcoma of the spleen" EXACT [NCIT:C4564] synonym: "hemangiosarcoma of spleen" EXACT [NCIT:C4564] synonym: "hemangiosarcoma of the spleen" EXACT [NCIT:C4564] @@ -41195,7 +41196,7 @@ intersection_of: disease_has_location UBERON:0002106 ! spleen id: MONDO:0002377 name: breast intracanalicular fibroadenoma def: "A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells." [NCIT:C4271] -synonym: "breast intracanalicular fibroadenoma" EXACT [NCIT:C4271] +synonym: "breast intracanalicular fibroadenoma" EXACT [DOID:2656, NCIT:C4271] synonym: "intracanalicular breast fibroadenoma" EXACT [NCIT:C4271] synonym: "intracanalicular fibroadenoma" EXACT [NCIT:C4271] synonym: "intracanalicular fibroadenoma of breast" EXACT [NCIT:C4271] @@ -41220,14 +41221,14 @@ synonym: "benign cystic teratoma" EXACT [NCIT:C9011] synonym: "cystic dermoid choristoma" EXACT [DOID:2658] synonym: "dermoid" EXACT [NCIT:C9011] synonym: "dermoid choristoma" EXACT [DOID:2658] -synonym: "dermoid cyst" EXACT [NCIT:C9011] +synonym: "dermoid cyst" EXACT [DOID:2658, icd11.foundation:1622534741, NCIT:C9011] synonym: "dermoid cyst, benign" EXACT [NCIT:C9011] -synonym: "dermoid tumor" EXACT [DOID:2658, NCIT:C9011] -synonym: "dermoid tumour" EXACT OMO:0003005 [] +synonym: "dermoid tumor" EXACT [NCIT:C9011] +synonym: "dermoid tumour" EXACT OMO:0003005 [DOID:2658] synonym: "mature cystic teratoma" EXACT [DOID:2658, NCIT:C9011] synonym: "subcutaneous cystic teratoma" EXACT [NCIT:C9011] -synonym: "teratoma, benign" RELATED [DOID:2658] -synonym: "teratoma, benign (morphologic abnormality)" RELATED [DOID:2658] +synonym: "teratoma, benign" RELATED [] +synonym: "teratoma, benign (morphologic abnormality)" RELATED [] xref: DOID:2658 {source="MONDO:equivalentTo"} xref: ICD10CM:K09.8 {source="DOID:2658"} xref: icd11.foundation:1622534741 {source="MONDO:equivalentTo"} @@ -41254,7 +41255,7 @@ id: MONDO:0002379 name: cystic teratoma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cystic teratoma" EXACT [NCIT:C9014] +synonym: "cystic teratoma" EXACT [DOID:2660, icd11.foundation:882254343, NCIT:C9014] xref: DOID:2660 {source="MONDO:equivalentTo"} xref: icd11.foundation:882254343 {source="MONDO:equivalentTo"} xref: MEDGEN:234578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -41270,11 +41271,11 @@ id: MONDO:0002380 name: myoepithelial tumor def: "A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." [NCIT:C40392] subset: otar {source="MONDO:OTAR"} -synonym: "benign myoepithelioma" NARROW [DOID:2661, NCIT:C7442] +synonym: "benign myoepithelioma" NARROW [] synonym: "myoepithelial adenoma" EXACT [DOID:2661] synonym: "myoepithelial neoplasm" EXACT [DOID:2661, NCIT:C40392] synonym: "myoepithelial tumor" EXACT [NCIT:C40392] -synonym: "myoepithelioma" EXACT [NCIT:C40392] +synonym: "myoepithelioma" EXACT [DOID:2661, NCIT:C40392] xref: DOID:2661 {source="MONDO:equivalentTo"} xref: ICDO:8982/0 {source="NCIT:C40392"} xref: ICDO:8982/1 {source="NCIT:C40392"} @@ -41293,14 +41294,14 @@ name: sweat gland neoplasm alt_id: MONDO:0021219 def: "A benign or malignant neoplasm arising from the sweat glands." [NCIT:C3398] subset: otar {source="MONDO:OTAR"} -synonym: "neoplasm of sweat gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3398] +synonym: "neoplasm of sweat gland" EXACT [DOID:2664, MONDO:patterns/neoplasm, NCIT:C3398] synonym: "neoplasm of the sweat gland" EXACT [NCIT:C3398] synonym: "sweat gland neoplasm" EXACT [NCIT:C3398] synonym: "sweat gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sweat gland neoplasms" EXACT [NCIT:C3398] -synonym: "sweat gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3398] -synonym: "sweat gland tumor (morphologic abnormality)" EXACT [DOID:2664] -synonym: "sweat gland tumor NOS (morphologic abnormality)" EXACT [DOID:2664] +synonym: "sweat gland tumor" EXACT [DOID:2664, MONDO:patterns/neoplasm, NCIT:C3398] +synonym: "sweat gland tumor (morphologic abnormality)" EXACT [] +synonym: "sweat gland tumor NOS (morphologic abnormality)" EXACT [] synonym: "sweat gland tumour" EXACT OMO:0003005 [] synonym: "sweat gland tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "sweat gland tumour NOS (morphologic abnormality)" EXACT OMO:0003005 [] @@ -41330,8 +41331,8 @@ id: MONDO:0002382 name: benign mesenchymoma def: "A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." [NCIT:P378] synonym: "mesenchymal tumor, benign" EXACT [NCIT:C4267] -synonym: "mesenchymoma, benign" EXACT [MONDO:patterns/benign] -synonym: "mesenchymoma, benign (morphologic abnormality)" EXACT [DOID:2667] +synonym: "mesenchymoma, benign" EXACT [MONDO:patterns/benign, NCIT:C4267] +synonym: "mesenchymoma, benign (morphologic abnormality)" EXACT [] xref: DOID:2667 {source="MONDO:equivalentObsolete"} xref: ICDO:8990/0 {source="NCIT:C4267"} xref: MEDGEN:87251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -41350,7 +41351,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Pacinian neurofibroma" EXACT [DOID:2669, NCIT:C4328] -synonym: "Pacinian tumor (morphologic abnormality)" EXACT [DOID:2669] +synonym: "Pacinian tumor (morphologic abnormality)" EXACT [] synonym: "Pacinian tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:2669 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -41386,10 +41387,10 @@ is_a: MONDO:0002513 {source="DOID:2673", source="NCIT:C7504"} ! kidney benign ne id: MONDO:0002386 name: mixed epithelial stromal tumor of the kidney def: "A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria." [NCIT:C37263] -synonym: "adult mesoblastic nephroma" RELATED [NCIT:C37263] -synonym: "benign MEST" EXACT [DOID:2678, NCIT:C37264] -synonym: "MEST" EXACT ABBREVIATION [DOID:2678, NCIT:C37263] -synonym: "mixed epithelial and stromal tumor of kidney" EXACT [DOID:2678] +synonym: "adult mesoblastic nephroma" RELATED [] +synonym: "benign MEST" EXACT [] +synonym: "MEST" EXACT ABBREVIATION [NCIT:C37263] +synonym: "mixed epithelial and stromal tumor of kidney" EXACT [] synonym: "mixed epithelial and stromal tumour of kidney" EXACT OMO:0003005 [] synonym: "mixed epithelial stromal tumor of the kidney" EXACT [NCIT:C37263] xref: DOID:2678 {source="MONDO:equivalentObsolete"} @@ -41411,14 +41412,14 @@ subset: gard_rare {source="GARD:5813", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "angiosarcoma (disease) of liver" EXACT [] -synonym: "angiosarcoma of liver" EXACT [DOID:268, NCIT:C4438] +synonym: "angiosarcoma of liver" EXACT [DOID:268, ICD10CM:C22.3, NCIT:C4438] synonym: "angiosarcoma of the liver" EXACT [GARD:0005813, NCIT:C4438] synonym: "hemangiosarcoma of liver" EXACT [NCIT:C4438] synonym: "hemangiosarcoma of the liver" EXACT [DOID:268, NCIT:C4438] synonym: "hepatic angiosarcoma" EXACT [NCIT:C4438] synonym: "hepatic hemangiosarcoma" EXACT [NCIT:C4438] synonym: "Lias" RELATED [ONCOTREE:LIAS] -synonym: "liver angiosarcoma" EXACT [NCIT:C4438] +synonym: "liver angiosarcoma" EXACT [DOID:268, NCIT:C4438] synonym: "liver angiosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "liver hemangiosarcoma" EXACT [NCIT:C4438] synonym: "primary angiosarcoma of liver" EXACT [NCIT:C4438] @@ -41444,9 +41445,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5813/angiosa id: MONDO:0002388 name: intracystic papillary adenoma def: "A papillary epithelial neoplasm arising in a cystically dilated breast duct." [NCIT:P378] -synonym: "intracystic papillary adenoma" EXACT [NCIT:C4191] -synonym: "intracystic papillary adenoma (morphologic abnormality)" EXACT [DOID:2682] -synonym: "intracystic papilloma" EXACT [DOID:2682, NCIT:C4191] +synonym: "intracystic papillary adenoma" EXACT [DOID:2682] +synonym: "intracystic papillary adenoma (morphologic abnormality)" EXACT [] +synonym: "intracystic papilloma" EXACT [DOID:2682] xref: DOID:2682 {source="MONDO:equivalentTo"} xref: ICDO:8504/0 {source="NCIT:C4191"} xref: MEDGEN:87229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -41493,9 +41494,9 @@ def: "An adenoma arising from the renal cortex." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "adenoma, renal cell, benign" EXACT [NCIT:C8383] synonym: "kidney adenoma" EXACT [NCIT:C8383] -synonym: "renal adenoma" EXACT [NCIT:C8383] +synonym: "renal adenoma" EXACT [DOID:2697, NCIT:C8383] synonym: "renal cell adenoma" EXACT [DOID:2697] -synonym: "renal cell adenoma (morphologic abnormality)" EXACT [DOID:2697] +synonym: "renal cell adenoma (morphologic abnormality)" EXACT [] synonym: "renal tubule adenoma" EXACT [NCIT:C8383] xref: DOID:2697 {source="MONDO:equivalentTo"} xref: MEDGEN:137794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -41529,7 +41530,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hepatic sarcoma" EXACT [DOID:270, NCIT:C4437] -synonym: "liver sarcoma" EXACT [MONDO:patterns/location, NCIT:C4437] +synonym: "liver sarcoma" EXACT [DOID:270, MONDO:patterns/location, NCIT:C4437] synonym: "sarcoma of liver" EXACT [MONDO:patterns/sarcoma, NCIT:C4437] synonym: "sarcoma of the liver" EXACT [NCIT:C4437] xref: DOID:270 {source="MONDO:equivalentTo"} @@ -41547,7 +41548,7 @@ intersection_of: disease_has_location UBERON:0002107 ! liver id: MONDO:0002398 name: mucinous adenofibroma def: "A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential." [NCIT:C8978] -synonym: "mucinous adenofibroma" EXACT [NCIT:C8978] +synonym: "mucinous adenofibroma" EXACT [DOID:2700, NCIT:C8978] xref: DOID:2700 {source="MONDO:equivalentTo"} xref: ICDO:9015/0 {source="NCIT:C8978"} xref: MEDGEN:83158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -41563,8 +41564,8 @@ intersection_of: MONDO:0024338 ! mucinous neoplasm id: MONDO:0002399 name: tenosynovial giant cell tumor, localized type def: "A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site." [NCIT:C6532] -synonym: "benign synovioma" RELATED [DOID:2701] -synonym: "benign tumor of synovium" RELATED [DOID:2701, NCIT:C3829] +synonym: "benign synovioma" RELATED [] +synonym: "benign tumor of synovium" RELATED [] synonym: "benign tumour of synovium" RELATED OMO:0003005 [] synonym: "localised giant cell neoplasm of tendon sheath" EXACT OMO:0003005 [] synonym: "localised giant cell neoplasm of Tenosynovium" EXACT OMO:0003005 [] @@ -41582,9 +41583,9 @@ synonym: "localized giant cell tumor of Tenosynovium" EXACT [DOID:2701, NCIT:C65 synonym: "localized giant cell tumor of the Tenosynovium" EXACT [NCIT:C6532] synonym: "localized tenosynovial giant cell neoplasm" EXACT [NCIT:C6532] synonym: "localized tenosynovial giant cell tumor" EXACT [NCIT:C6532] -synonym: "nodular tenosynovitis" EXACT [NCIT:C6532] -synonym: "synovioma, benign" RELATED EXCLUDE [DOID:2701] -synonym: "synovioma, benign (morphologic abnormality)" EXACT [DOID:2701] +synonym: "nodular tenosynovitis" EXACT [DOID:2701, NCIT:C6532] +synonym: "synovioma, benign" RELATED EXCLUDE [] +synonym: "synovioma, benign (morphologic abnormality)" EXACT [] synonym: "tenosynovial giant cell tumor, localized type" EXACT [NCIT:C6532] xref: DOID:2701 {source="MONDO:equivalentTo"} xref: ICD9:727.02 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -41608,7 +41609,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "inflammation of synovial membrane of synovial joint" EXACT [] synonym: "synovial membrane of synovial joint inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Synovitides" RELATED [MESH:D013585] -synonym: "synovitis" EXACT [MONDO:ambiguous] +synonym: "synovitis" EXACT [DOID:2703, MONDO:ambiguous, NCIT:C50766] synonym: "synovitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2703 {source="MONDO:equivalentTo"} xref: EFO:0008997 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -41631,12 +41632,12 @@ property_value: IAO:0000589 "synovitis (disease)" xsd:string id: MONDO:0002401 name: malignant tenosynovial giant cell tumor def: "An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well." [NCIT:C6535] -synonym: "giant cell tumor of tendon sheath, malignant" EXACT [DOID:2704] -synonym: "giant cell tumour of tendon sheath, malignant" EXACT OMO:0003005 [] +synonym: "giant cell tumor of tendon sheath, malignant" EXACT [NCIT:C6535] +synonym: "giant cell tumour of tendon sheath, malignant" EXACT OMO:0003005 [DOID:2704] synonym: "malignant giant cell neoplasm of tendon sheath" EXACT [NCIT:C6535] synonym: "malignant giant cell neoplasm of the tendon sheath" EXACT [DOID:2704, NCIT:C6535] synonym: "malignant giant cell tumor of tendon sheath" EXACT [NCIT:C6535] -synonym: "malignant giant cell tumor of the tendon sheath" EXACT [NCIT:C6535] +synonym: "malignant giant cell tumor of the tendon sheath" EXACT [DOID:2704, NCIT:C6535] synonym: "malignant giant cell tumour of tendon sheath" EXACT OMO:0003005 [] synonym: "malignant giant cell tumour of the tendon sheath" EXACT OMO:0003005 [] synonym: "malignant tendon sheath giant cell neoplasm" EXACT [NCIT:C6535] @@ -41663,9 +41664,9 @@ def: "A malignant neoplasm characterized by then presence of atypical giant cell subset: otar {source="MONDO:OTAR"} synonym: "giant cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4090] synonym: "malignant giant cell neoplasm" EXACT [DOID:2705, NCIT:C4090] -synonym: "malignant giant cell tumor" EXACT [NCIT:C4090] -synonym: "malignant tumor, giant cell type" EXACT [DOID:2705] -synonym: "malignant tumor, giant cell type (morphologic abnormality)" EXACT [DOID:2705] +synonym: "malignant giant cell tumor" EXACT [DOID:2705, NCIT:C4090] +synonym: "malignant tumor, giant cell type" EXACT [DOID:2705, NCIT:C4090] +synonym: "malignant tumor, giant cell type (morphologic abnormality)" EXACT [] xref: DOID:2705 {source="MONDO:equivalentTo"} xref: ICDO:8003/3 {source="NCIT:C4090"} xref: MEDGEN:90745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -41712,12 +41713,12 @@ name: liver hemangioma def: "A hemangioma arising from the liver." [NCIT:C3869] subset: otar {source="MONDO:OTAR"} synonym: "angioma of liver" EXACT [DOID:271, NCIT:C3869] -synonym: "angioma of the liver" RELATED [NCIT:C3869] -synonym: "hemangioma of liver" EXACT [NCIT:C3869] -synonym: "hemangioma of the liver" RELATED [NCIT:C3869] +synonym: "angioma of the liver" RELATED [] +synonym: "hemangioma of liver" EXACT [DOID:271, NCIT:C3869] +synonym: "hemangioma of the liver" RELATED [] synonym: "hepatic angioma" EXACT [DOID:271, NCIT:C3869] -synonym: "hepatic hemangioma" RELATED [NCIT:C3869] -synonym: "liver angioma" RELATED [NCIT:C3869] +synonym: "hepatic hemangioma" RELATED [] +synonym: "liver angioma" RELATED [] synonym: "liver hemangioma" EXACT [MONDO:patterns/location, NCIT:C3869] xref: DOID:271 {source="MONDO:equivalentTo"} xref: MEDGEN:66765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -41759,12 +41760,12 @@ id: MONDO:0002406 name: dermatitis def: "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis." [NCIT:C2983] subset: otar {source="MONDO:OTAR"} -synonym: "eczema" RELATED EXCLUDE [DOID:2723] +synonym: "eczema" RELATED EXCLUDE [] synonym: "inflammation of skin" EXACT [NCIT:C2983] synonym: "inflammation of the skin" EXACT [NCIT:C2983] synonym: "inflammation of zone of skin" EXACT [] synonym: "inflammatory skin disease" EXACT [MONDO:0006501] -synonym: "skin inflammation" EXACT [DOID:2723] +synonym: "skin inflammation" EXACT [DOID:2723, NCIT:C2983] synonym: "zone of skin inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:2723 {source="MONDO:equivalentTo"} xref: ICD10CM:L20-L30 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -41795,14 +41796,14 @@ name: capillary hemangioma def: "A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells." [NCIT:C7457] subset: otar {source="MONDO:OTAR"} synonym: "capillary angioma" EXACT [NCIT:C7457] -synonym: "capillary hemangioma" EXACT [MONDO:patterns/location, NCIT:C7457] -synonym: "capillary hemangioma (morphologic abnormality)" EXACT [DOID:2725] -synonym: "cellular hemangioma of infancy" NARROW [DOID:2725] -synonym: "cellular hemangioma of infancy (strawberry nevus)" NARROW [DOID:2725, NCIT:C7394] +synonym: "capillary hemangioma" EXACT [DOID:2725, MONDO:patterns/location, NCIT:C7457] +synonym: "capillary hemangioma (morphologic abnormality)" EXACT [] +synonym: "cellular hemangioma of infancy" NARROW [] +synonym: "cellular hemangioma of infancy (strawberry nevus)" NARROW [] synonym: "congenital vascular hamartoma" EXACT [DOID:2725] synonym: "congenital vascular naevus" EXACT [DOID:2725] -synonym: "infantile hemangioma" NARROW [DOID:2725, NCIT:C7459] -synonym: "juvenile hemangioma" NARROW [DOID:2725, NCIT:C7458] +synonym: "infantile hemangioma" NARROW [] +synonym: "juvenile hemangioma" NARROW [] synonym: "strawberry haemangioma" EXACT [DOID:2725] synonym: "strawberry nevus" EXACT [DOID:2725] synonym: "strawberry nevus of skin" EXACT [DOID:2725] @@ -41829,10 +41830,10 @@ def: "An inherited disorder affecting the metabolism of bilirubin. It results in subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bilirubin metabolic disorder" BROAD [DOID:2741] -synonym: "hereditary hyperbilirubinemia" EXACT [DOID:2741, MONDO:patterns/hereditary] -synonym: "hyperbilirubinaemia" BROAD [DOID:2741] -synonym: "hyperbilirubinemia" BROAD [DOID:2741] +synonym: "bilirubin metabolic disorder" BROAD [] +synonym: "hereditary hyperbilirubinemia" EXACT [DOID:2741, MONDO:patterns/hereditary, NCIT:C84761] +synonym: "hyperbilirubinaemia" BROAD [] +synonym: "hyperbilirubinemia" BROAD [] xref: DOID:2741 {source="MONDO:equivalentTo"} xref: MEDGEN:6963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D006932 {source="DOID:2741"} @@ -41858,8 +41859,8 @@ name: auditory system disorder def: "A disease involving the auditory system." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} subset: rare_grouping -synonym: "auditory disease" EXACT [DOID:2742] -synonym: "auditory system disease" EXACT [MONDO:patterns/location] +synonym: "auditory disease" EXACT [] +synonym: "auditory system disease" EXACT [DOID:2742, MONDO:patterns/location] synonym: "auditory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of auditory system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of auditory system" EXACT [] @@ -41925,11 +41926,11 @@ subset: gard_rare {source="GARD:18973", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79201"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glycogen metabolism disorder" EXACT [DOID:0050728, DOID:2747] -synonym: "glycogen storage disease" EXACT [MONDO:0019244, OMIMPS:232200] +synonym: "glycogen metabolism disorder" EXACT [DOID:0050728] +synonym: "glycogen storage disease" EXACT [DOID:2747, ICD10CM:E74.0, icd11.foundation:1187107383, MONDO:0019244, NCIT:C61272, OMIMPS:232200, Orphanet:79201] synonym: "glycogen storage disorder" EXACT [] -synonym: "glycogenoses" EXACT [DOID:2747, Wikipedia:Glycogen_storage_disease] -synonym: "glycogenosis" EXACT [DOID:2747, Orphanet:79201] +synonym: "glycogenoses" EXACT [Wikipedia:Glycogen_storage_disease] +synonym: "glycogenosis" EXACT [DOID:2747, icd11.foundation:1187107383, Orphanet:79201] synonym: "GSD" EXACT ABBREVIATION [Orphanet:79201] synonym: "inborn error of glycogen metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glycogen metabolic process disorder" EXACT [] @@ -41974,24 +41975,24 @@ subset: ordo_disorder {source="Orphanet:364"} subset: orphanet_rare {source="Orphanet:364"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deficiency of glucose-6-phosphatase" EXACT [DOID:2749] +synonym: "deficiency of glucose-6-phosphatase" EXACT [DOID:0081329] synonym: "G6P deficiency" EXACT [Orphanet:364] synonym: "glycogen storage disease due to G6P deficiency" EXACT [Orphanet:364] synonym: "glycogen storage disease due to glucose-6-phosphatase deficiency" EXACT [Orphanet:364] -synonym: "glycogen storage disease I" EXACT CLINGEN_LABEL [] +synonym: "glycogen storage disease I" EXACT CLINGEN_LABEL [DOID:0081329] synonym: "glycogen storage disease type 1" EXACT [Orphanet:364] -synonym: "Glycogen Storage Disease Type I" EXACT [NORD:1193] -synonym: "glycogen storage disease type I" EXACT [DOID:2749, MONDORULE:1, Orphanet:364] -synonym: "glycogen storage disease, type I" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/] +synonym: "Glycogen Storage Disease Type I" EXACT [DOID:0081329, NCIT:C84733, NORD:1193, Orphanet:364] +synonym: "glycogen storage disease type I" EXACT [DOID:0081329, MONDORULE:1, NCIT:C84733, Orphanet:364] +synonym: "glycogen storage disease, type I" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1312/] synonym: "glycogenosis type 1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364] -synonym: "glycogenosis type I" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364] +synonym: "glycogenosis type I" EXACT [DOID:0081329, https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364] synonym: "GSD due to G6P deficiency" EXACT [Orphanet:364] synonym: "GSD type 1" EXACT [Orphanet:364] synonym: "GSD type I" EXACT [Orphanet:364] synonym: "GSD1" EXACT ABBREVIATION [] synonym: "hepatorenal glycogenosis" EXACT [Orphanet:364] -synonym: "von Gierke disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/, Orphanet:364] -synonym: "von Gierke's disease" EXACT [DOID:2749, https://www.ncbi.nlm.nih.gov/books/NBK1312/] +synonym: "von Gierke disease" EXACT [DOID:0081329, https://www.ncbi.nlm.nih.gov/books/NBK1312/, ICD10CM:E74.01, Orphanet:364] +synonym: "von Gierke's disease" EXACT [DOID:0081329, https://www.ncbi.nlm.nih.gov/books/NBK1312/] xref: DOID:0081329 {source="MONDO:equivalentTo"} xref: GARD:16523 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:364/ntbt", source="Orphanet:364/inclusion", source="Orphanet:364"} @@ -42023,7 +42024,7 @@ def: "A hemangioma arising from the stomach." [NCIT:C5481] synonym: "angioma of stomach" EXACT [NCIT:C5481] synonym: "angioma of the stomach" EXACT [NCIT:C5481] synonym: "gastric angioma" EXACT [NCIT:C5481] -synonym: "gastric hemangioma" EXACT [NCIT:C5481] +synonym: "gastric hemangioma" EXACT [DOID:275, NCIT:C5481] synonym: "hemangioma of stomach" EXACT [DOID:275, NCIT:C5481] synonym: "hemangioma of the stomach" EXACT [NCIT:C5481] synonym: "stomach hemangioma" EXACT [MONDO:patterns/location] @@ -42068,7 +42069,7 @@ synonym: "epidermoid carcinoma of ethmoidal sinus" EXACT [NCIT:C6065] synonym: "epidermoid carcinoma of the ethmoid sinus" EXACT [NCIT:C6065] synonym: "epidermoid carcinoma of the ethmoidal sinus" EXACT [DOID:2763, NCIT:C6065] synonym: "ethmoid sinus epidermoid carcinoma" EXACT [NCIT:C6065] -synonym: "ethmoid sinus squamous cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "ethmoid sinus squamous cell carcinoma" EXACT [DOID:2763, MONDO:patterns/location, NCIT:C6065] synonym: "ethmoidal sinus epidermoid carcinoma" EXACT [NCIT:C6065] synonym: "ethmoidal sinus squamous cell carcinoma" EXACT [NCIT:C6065] synonym: "squamous cell carcinoma of ethmoid sinus" EXACT [NCIT:C6065] @@ -42173,13 +42174,13 @@ subset: ordo_disorder {source="Orphanet:55881"} subset: orphanet_rare {source="Orphanet:55881"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adamantinoma" EXACT [NCIT:C7644] -synonym: "adamantinoma of long bone" RELATED [DOID:2775] -synonym: "adamantinoma of long bones" EXACT [DOID:2775, NCIT:C7644, OMIM:102660, Orphanet:55881] -synonym: "adamantinoma of long bones (morphologic abnormality)" EXACT [DOID:2775] +synonym: "adamantinoma" EXACT [DOID:2776, icd11.foundation:2013322169, NCIT:C7644, Orphanet:55881] +synonym: "adamantinoma of long bone" RELATED [] +synonym: "adamantinoma of long bones" EXACT [DOID:2776, NCIT:C7644, OMIM:102660, Orphanet:55881] +synonym: "adamantinoma of long bones (morphologic abnormality)" EXACT [] synonym: "adamantinoma, malignant" EXACT [NCIT:C7644] synonym: "Extragnathic adamantinoma" EXACT [NCIT:C7644] -synonym: "long bone adamantinoma" EXACT [MONDO:0007063, MONDO:patterns/location] +synonym: "long bone adamantinoma" EXACT [DOID:2775, MONDO:0007063, MONDO:patterns/location] xref: DOID:2775 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:2776 {source="MONDO:equivalentTo"} xref: GARD:16660 {source="MONDO:GARD"} @@ -42209,7 +42210,7 @@ id: MONDO:0002423 name: rectosigmoid junction neoplasm def: "A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." [NCIT:C4877] subset: otar {source="MONDO:OTAR"} -synonym: "neoplasm of rectosigmoid junction" EXACT [MONDO:patterns/neoplasm, NCIT:C4877] +synonym: "neoplasm of rectosigmoid junction" EXACT [DOID:2780, MONDO:patterns/neoplasm, NCIT:C4877] synonym: "neoplasm of the rectosigmoid junction" EXACT [NCIT:C4877] synonym: "rectosigmoid junction neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "rectosigmoid junction tumor" EXACT [MONDO:patterns/neoplasm] @@ -42237,7 +42238,7 @@ id: MONDO:0002424 name: rectosigmoid carcinoma def: "A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area." [NCIT:C7421] synonym: "carcinoma of rectosigmoid junction" EXACT [MONDO:patterns/carcinoma] -synonym: "rectosigmoid cancer" EXACT [NCIT:C7421] +synonym: "rectosigmoid cancer" EXACT [DOID:2781, NCIT:C7421] synonym: "rectosigmoid carcinoma" EXACT [NCIT:C7421] synonym: "rectosigmoid junction carcinoma" EXACT [MONDO:patterns/location] xref: DOID:2781 {source="MONDO:equivalentTo"} @@ -42253,18 +42254,18 @@ id: MONDO:0002425 name: rectosigmoid junction cancer def: "A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C7420] synonym: "cancer of rectosigmoid junction" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of rectosigmoid" EXACT [DOID:2782] -synonym: "malignant neoplasm of rectosigmoid junction" EXACT [DOID:2782, ICD9CM:154.0, MONDO:patterns/cancer, NCIT:C7420] +synonym: "malignant neoplasm of rectosigmoid" EXACT [DOID:2782, ICD10CM:C19] +synonym: "malignant neoplasm of rectosigmoid junction" EXACT [DOID:2782, ICD10CM:C19, ICD9CM:154.0, MONDO:patterns/cancer, NCIT:C7420] synonym: "malignant neoplasm of the rectosigmoid junction" EXACT [NCIT:C7420] synonym: "malignant rectosigmoid junction neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant rectosigmoid neoplasm" EXACT [NCIT:C7420] synonym: "malignant rectosigmoid tumor" EXACT [DOID:2782, NCIT:C7420] synonym: "malignant rectosigmoid tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of rectosigmoid junction" EXACT [NCIT:C7420] +synonym: "malignant tumor of rectosigmoid junction" EXACT [DOID:2782, NCIT:C7420] synonym: "malignant tumor of the rectosigmoid junction" EXACT [NCIT:C7420] synonym: "malignant tumour of rectosigmoid junction" EXACT OMO:0003005 [] synonym: "malignant tumour of the rectosigmoid junction" EXACT OMO:0003005 [] -synonym: "rectosigmoid junction cancer" EXACT [MONDO:patterns/location] +synonym: "rectosigmoid junction cancer" EXACT [DOID:2782, MONDO:patterns/location] xref: DOID:2782 {source="MONDO:equivalentTo"} xref: ICD10CM:C19 {source="DOID:2782", source="MONDO:equivalentTo"} xref: ICD9:154.0 {source="DOID:2782", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -42287,7 +42288,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lung sarcoma" EXACT [MONDO:patterns/location, NCIT:C4860] +synonym: "lung sarcoma" EXACT [DOID:2784, MONDO:patterns/location, NCIT:C4860] synonym: "pulmonary sarcoma" EXACT [DOID:2784, NCIT:C4860] synonym: "sarcoma of lung" EXACT [MONDO:patterns/sarcoma, NCIT:C4860] synonym: "sarcoma of the lung" EXACT [NCIT:C4860] @@ -42331,10 +42332,10 @@ id: MONDO:0002428 name: protozoa infectious disease def: "An infection that is caused by protozoans." [NCIT:C34953] subset: otar {source="MONDO:OTAR"} -synonym: "Mastigophora infectious disease" NARROW [DOID:2789] -synonym: "parasitic protozoa infectious disease" RELATED [DOID:2789] +synonym: "Mastigophora infectious disease" NARROW [] +synonym: "parasitic protozoa infectious disease" RELATED [] synonym: "protozoal infection" EXACT [NCIT:C34953] -synonym: "sarcomastigophora infectious disease" NARROW [DOID:2789] +synonym: "sarcomastigophora infectious disease" NARROW [] xref: DOID:2789 {source="MONDO:equivalentTo"} xref: ICD10CM:B50-B64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:2789", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:B64 {source="DOID:2789"} @@ -42360,8 +42361,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "diffuse idiopathic pulmonary fibrosis" EXACT [DOID:2797] synonym: "idiopathic fibrosing alveolitis" EXACT [DOID:2797, ICD9CM:516.3] -synonym: "idiopathic interstitial pneumonitis" EXACT [https://orcid.org/0000-0003-0113-912X] -synonym: "IIp" EXACT [NCIT:C35714] +synonym: "idiopathic interstitial pneumonitis" EXACT [https://orcid.org/0000-0003-0113-912X, NCIT:C35714] +synonym: "IIP" EXACT ABBREVIATION [NCIT:C35714] +synonym: "IIp" EXACT [] synonym: "IPF" RELATED ABBREVIATION [DOID:2797] synonym: "noninfectious pneumonia" EXACT [Wikipedia:Idiopathic_interstitial_pneumonia] xref: DOID:2797 {source="MONDO:equivalentTo"} @@ -42408,7 +42410,7 @@ id: MONDO:0002432 name: malignant neoplasm of acoustic nerve def: "A malignant neoplasm involving the vestibulocochlear nerve." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of the vestibulocochlear nerve" EXACT [NCIT:C4539] -synonym: "cancer of vestibulocochlear nerve" EXACT [MONDO:patterns/cancer] +synonym: "cancer of vestibulocochlear nerve" EXACT [MONDO:patterns/cancer, NCIT:C4539] synonym: "malignant acoustic nerve neoplasm" EXACT [NCIT:C4539] synonym: "malignant acoustic nerve tumor" EXACT [NCIT:C4539] synonym: "malignant acoustic nerve tumour" EXACT OMO:0003005 [] @@ -42428,13 +42430,13 @@ synonym: "malignant tumor of the eighth cranial nerve" EXACT [NCIT:C4539] synonym: "malignant tumor of the vestibulocochlear nerve" EXACT [DOID:2814, NCIT:C4539] synonym: "malignant tumor of vestibulocochlear nerve" EXACT [NCIT:C4539] synonym: "malignant tumour of acoustic nerve" EXACT OMO:0003005 [] -synonym: "malignant tumour of acoustic vestibular nerve" EXACT OMO:0003005 [] +synonym: "malignant tumour of acoustic vestibular nerve" EXACT OMO:0003005 [DOID:2814] synonym: "malignant tumour of eighth cranial nerve" EXACT OMO:0003005 [] synonym: "malignant tumour of the acoustic nerve" EXACT OMO:0003005 [] synonym: "malignant tumour of the eighth cranial nerve" EXACT OMO:0003005 [] synonym: "malignant tumour of the vestibulocochlear nerve" EXACT OMO:0003005 [] synonym: "malignant tumour of vestibulocochlear nerve" EXACT OMO:0003005 [] -synonym: "malignant vestibulocochlear nerve neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant vestibulocochlear nerve neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4539] synonym: "malignant vestibulocochlear nerve tumor" EXACT [NCIT:C4539] synonym: "malignant vestibulocochlear nerve tumour" EXACT OMO:0003005 [] synonym: "vestibulocochlear nerve cancer" EXACT [MONDO:patterns/location] @@ -42459,15 +42461,15 @@ name: malignant cranial nerve neoplasm def: "Abnormal malignant growth of the cells that comprise the cranial nerve." [NCIT:C3571] synonym: "cancer of cranial nerve" EXACT [MONDO:patterns/cancer] synonym: "cranial nerve cancer" EXACT [MONDO:patterns/location] -synonym: "cranial nerve malignant neoplasm" RELATED [DOID:2815] +synonym: "cranial nerve malignant neoplasm" RELATED [] synonym: "cranial nerve neoplasm, malignant" EXACT [NCIT:C3571] synonym: "malignant cranial nerve neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3571] synonym: "malignant cranial nerve tumor" EXACT [NCIT:C3571] synonym: "malignant cranial nerve tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of cranial nerve" EXACT [DOID:2815, MONDO:patterns/cancer, NCIT:C3571] -synonym: "malignant neoplasm of cranial nerves" EXACT [DOID:2815, ICD9CM:192.0] +synonym: "malignant neoplasm of cranial nerves" EXACT [ICD9CM:192.0] synonym: "malignant neoplasm of the cranial nerve" EXACT [NCIT:C3571] -synonym: "malignant tumor of cranial nerve" EXACT [NCIT:C3571] +synonym: "malignant tumor of cranial nerve" EXACT [DOID:2815, NCIT:C3571] synonym: "malignant tumor of the cranial nerve" EXACT [DOID:2815, NCIT:C3571] synonym: "malignant tumour of cranial nerve" EXACT OMO:0003005 [] synonym: "malignant tumour of the cranial nerve" EXACT OMO:0003005 [] @@ -42492,8 +42494,8 @@ def: "A cancer involving a oculomotor nerve." [MONDO:patterns/cancer] synonym: "cancer of oculomotor nerve" EXACT [MONDO:patterns/cancer] synonym: "IIIrd cranial nerve neoplasm, malignant" EXACT [DOID:2816, NCIT:C6995] synonym: "malignant neoplasm of oculomotor nerve" EXACT [MONDO:patterns/cancer] -synonym: "malignant oculomotor nerve neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant oculomotor nerve tumor" RELATED [DOID:2816] +synonym: "malignant oculomotor nerve neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C6995] +synonym: "malignant oculomotor nerve tumor" RELATED [] synonym: "malignant oculomotor nerve tumour" RELATED OMO:0003005 [] synonym: "oculomotor nerve cancer" EXACT [MONDO:patterns/location] synonym: "oculomotor nerve neoplasm, malignant" EXACT [NCIT:C6995] @@ -42512,15 +42514,15 @@ intersection_of: disease_has_location UBERON:0001643 ! oculomotor nerve id: MONDO:0002435 name: oculomotor nerve neoplasm def: "A neoplasm involving a oculomotor nerve." [MONDO:patterns/neoplasm] -synonym: "cranial nerve III tumor" RELATED [DOID:2817] +synonym: "cranial nerve III tumor" RELATED [] synonym: "cranial nerve III tumour" RELATED OMO:0003005 [] synonym: "IIIrd cranial nerve tumor" EXACT [NCIT:C6994] synonym: "IIIrd cranial nerve tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of oculomotor nerve" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of oculomotor nerve" EXACT [DOID:2817, MONDO:patterns/neoplasm] synonym: "oculomotor nerve neoplasm" EXACT [NCIT:C6994] synonym: "oculomotor nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "oculomotor nerve tumor" EXACT [DOID:2817, MONDO:patterns/neoplasm, NCIT:C6994] -synonym: "oculomotor nerve tumour" EXACT OMO:0003005 [] +synonym: "oculomotor nerve tumour" EXACT OMO:0003005 [DOID:2817] synonym: "tumor of oculomotor nerve" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of oculomotor nerve" EXACT OMO:0003005 [] xref: DOID:2817 {source="MONDO:equivalentTo"} @@ -42543,7 +42545,7 @@ synonym: "disease or disorder of nose" EXACT [] synonym: "disorder of nose" EXACT [MONDO:patterns/location_top] synonym: "disorder of the nose" EXACT [DOID:2825] synonym: "nasal disorder" EXACT [DOID:2825] -synonym: "nose disease" EXACT [https://orcid.org/0000-0002-0736-9199, MONDO:patterns/location] +synonym: "nose disease" EXACT [DOID:2825, https://orcid.org/0000-0002-0736-9199, MONDO:patterns/location] synonym: "nose disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:2825 {source="MONDO:equivalentTo"} xref: ICD9:478.19 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -42577,10 +42579,10 @@ def: "An instance of polycythemia that is acquired during the lifetime of the in subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "acquired polycythemia" EXACT [MONDO:patterns/acquired] +synonym: "acquired polycythemia" EXACT [DOID:2834, MONDO:patterns/acquired] synonym: "acquired polycythemia (disease)" EXACT [MONDO:patterns/acquired] -synonym: "polycythemia, secondary" RELATED EXCLUDE [DOID:2834] -synonym: "secondary polycythemia" RELATED EXCLUDE [DOID:2834] +synonym: "polycythemia, secondary" RELATED EXCLUDE [] +synonym: "secondary polycythemia" RELATED EXCLUDE [] xref: DOID:2834 {source="MONDO:equivalentTo"} xref: ICD10CM:D75.1 {source="DOID:2834"} xref: ICD9:289.0 {source="DOID:2834"} @@ -42634,12 +42636,12 @@ subset: rare synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" RELATED [GARD:0003048] synonym: "deafness, congenital, and functional heart disease" RELATED [GARD:0003048] synonym: "Jervell and Lange Nielsen syndrome" EXACT [NCIT:C84793] -synonym: "Jervell and Lange-Nielsen syndrome 1" RELATED [MONDO:Lexical, OMIM:220400] -synonym: "Jervell and Lange-Nielsen syndrome type 1" RELATED [MONDORULE:1, OMIM:220400] +synonym: "Jervell and Lange-Nielsen syndrome 1" RELATED [MONDO:Lexical] +synonym: "Jervell and Lange-Nielsen syndrome type 1" RELATED [MONDORULE:1] synonym: "Jervell and Lange-Nielson syndrome" EXACT [DOID:2842] synonym: "Jervell Lange-Nielsen syndrome" EXACT [GARD:0003048] synonym: "Jervell-Lange Nielsen syndrome" EXACT [DOID:2842] -synonym: "JLNS1" RELATED ABBREVIATION [GARD:0003048, OMIM:220400] +synonym: "JLNS1" RELATED ABBREVIATION [GARD:0003048] synonym: "long QT interval-deafness syndrome" EXACT [Orphanet:90647] synonym: "prolonged QT interval in EKG and sudden death" RELATED [GARD:0003048] synonym: "Surdo-cardiac syndrome" RELATED [GARD:0003048] @@ -42670,9 +42672,9 @@ name: long QT syndrome def: "A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome." [MESH:D008133] subset: clingen {source="MONDO:CLINGEN"} synonym: "long Q-T syndrome" EXACT [DOID:2843] -synonym: "long QT syndrome" EXACT CLINGEN_LABEL [] +synonym: "long QT syndrome" EXACT CLINGEN_LABEL [DOID:2843, ICD10CM:I45.81, NCIT:C34786] synonym: "LQT" EXACT ABBREVIATION [DOID:2843] -synonym: "Romano-Ward syndrome" RELATED EXCLUDE [DOID:2843] +synonym: "Romano-Ward syndrome" RELATED EXCLUDE [] synonym: "ventricular arrhythmia associated with long QT syndrome" EXACT [NCIT:C34786] xref: DOID:2843 {source="MONDO:equivalentTo"} xref: ICD10CM:I45.81 {source="MONDO:equivalentTo", source="DOID:2843"} @@ -42701,7 +42703,7 @@ relationship: excluded_subClassOf MONDO:0000591 {source="DOID:2843", source="htt id: MONDO:0002443 name: bruxism def: "Excessive clenching of the jaw and grinding of the teeth." [NCIT:P378] -synonym: "bruxism" EXACT [MONDO:ambiguous] +synonym: "bruxism" EXACT [DOID:2846, icd11.foundation:1046319083, MONDO:ambiguous] synonym: "bruxism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "bruxism - teeth grinding" EXACT [DOID:2846] synonym: "grinding teeth" EXACT [DOID:2846] @@ -42765,11 +42767,11 @@ subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of endometrium" EXACT [MONDO:patterns/carcinoma, NCIT:C7558] synonym: "carcinoma of the endometrium" EXACT [DOID:2871, NCIT:C7558] synonym: "carcinoma, endometrial, malignant" EXACT [NCIT:C7558] -synonym: "endometrial cancer" BROAD [NCIT:C7558] -synonym: "endometrial carcinoma" EXACT [MONDO:ambiguous, NCIT:C7558] +synonym: "endometrial cancer" BROAD [] +synonym: "endometrial carcinoma" EXACT [DOID:2871, icd11.foundation:1123821211, MONDO:ambiguous, NCIT:C7558] synonym: "endometrial carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "endometrioid carcinoma" RELATED EXCLUDE [DOID:2871] -synonym: "endometrioid carcinoma of female reproductive system" RELATED EXCLUDE [DOID:2871, NCIT:C3769] +synonym: "endometrioid carcinoma" RELATED EXCLUDE [] +synonym: "endometrioid carcinoma of female reproductive system" RELATED EXCLUDE [] synonym: "endometrium carcinoma" EXACT [MONDO:patterns/location] xref: DOID:2871 {source="MONDO:equivalentTo"} xref: EFO:1001512 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -42799,7 +42801,7 @@ def: "A rare malignant soft tissue neoplasm that arises from the larynx." [NCIT: subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "laryngeal sarcoma" EXACT [NCIT:C6020] -synonym: "larynx sarcoma" EXACT [MONDO:patterns/location, NCIT:C6020] +synonym: "larynx sarcoma" EXACT [DOID:2877, MONDO:patterns/location, NCIT:C6020] synonym: "sarcoma of larynx" EXACT [DOID:2877, MONDO:patterns/sarcoma, NCIT:C6020] synonym: "sarcoma of the larynx" EXACT [NCIT:C6020] xref: DOID:2877 {source="MONDO:equivalentTo"} @@ -42866,9 +42868,9 @@ synonym: "benign phyllodes tumor of the prostate" EXACT [NCIT:C5532] synonym: "benign phyllodes tumour of prostate" EXACT OMO:0003005 [] synonym: "benign phyllodes tumour of the prostate" EXACT OMO:0003005 [] synonym: "benign prostate phyllodes neoplasm" EXACT [NCIT:C5532] -synonym: "benign prostate phyllodes tumor" EXACT [NCIT:C5532] -synonym: "phyllodes neoplasm of the prostate" BROAD [DOID:2885, NCIT:C7574] -synonym: "prostate phyllodes tumor" BROAD [DOID:2885] +synonym: "benign prostate phyllodes tumor" EXACT [DOID:2885, NCIT:C5532] +synonym: "phyllodes neoplasm of the prostate" BROAD [] +synonym: "prostate phyllodes tumor" BROAD [] synonym: "prostate phyllodes tumor, benign" EXACT [MONDO:patterns/benign] synonym: "prostate phyllodes tumour" BROAD OMO:0003005 [] xref: DOID:2885 {source="MONDO:equivalentTo"} @@ -42891,7 +42893,7 @@ synonym: "leiomyoma of prostate" EXACT [NCIT:C5544] synonym: "leiomyoma of prostate gland" EXACT [MONDO:design_pattern] synonym: "leiomyoma of the prostate" EXACT [NCIT:C5544] synonym: "prostate gland leiomyoma" EXACT [MONDO:patterns/location] -synonym: "prostate leiomyoma" EXACT [NCIT:C5544] +synonym: "prostate leiomyoma" EXACT [DOID:2887, NCIT:C5544] synonym: "prostatic leiomyoma" EXACT [DOID:2887, NCIT:C5544] xref: DOID:2887 {source="MONDO:equivalentTo"} xref: MEDGEN:233875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -42931,7 +42933,7 @@ synonym: "carcinoma of exocervix" EXACT [DOID:2892, NCIT:C7453] synonym: "carcinoma of the exocervix" EXACT [DOID:2892, NCIT:C7453] synonym: "ectocervix carcinoma" EXACT [MONDO:patterns/location] synonym: "exocervical cancer" EXACT [NCIT:C7453] -synonym: "exocervical carcinoma" EXACT [NCIT:C7453] +synonym: "exocervical carcinoma" EXACT [DOID:2892, NCIT:C7453] synonym: "exocervix carcinoma" EXACT [NCIT:C7453] xref: DOID:2892 {source="MONDO:equivalentTo"} xref: MEDGEN:226967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -42962,15 +42964,15 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "Franceschetti syndrome" EXACT [DOID:2908] -synonym: "Franceschetti-Klein syndrome" EXACT [Orphanet:861] -synonym: "mandibulofacial dysostosis" RELATED EXCLUDE [DOID:2908] +synonym: "Franceschetti-Klein syndrome" EXACT [icd11.foundation:969026676, Orphanet:861] +synonym: "mandibulofacial dysostosis" RELATED EXCLUDE [] synonym: "mandibulofacial dysostosis without limb anomalies" EXACT [Orphanet:861] synonym: "MFD1" RELATED ABBREVIATION [GARD:0009124] synonym: "TCOF" RELATED ABBREVIATION [GARD:0009124] synonym: "TCS" RELATED ABBREVIATION [GARD:0009124] -synonym: "Treacher Collins Syndrome" EXACT [NORD:1785] -synonym: "Treacher Collins syndrome" EXACT [DOID:2908] -synonym: "Treacher-Collins syndrome" EXACT CLINGEN_LABEL [] +synonym: "Treacher Collins Syndrome" EXACT [DOID:2908, NCIT:C75018, NORD:1785, OMIMPS:154500] +synonym: "Treacher Collins syndrome" EXACT [DOID:2908, NCIT:C75018, OMIMPS:154500] +synonym: "Treacher-Collins syndrome" EXACT CLINGEN_LABEL [icd11.foundation:969026676, Orphanet:861] xref: DOID:2908 {source="MONDO:equivalentTo"} xref: GARD:9124 {source="MONDO:GARD"} xref: ICD10CM:Q75.4 {source="DOID:2908", source="Orphanet:861/ntbt", source="Orphanet:861/inclusion", source="Orphanet:861"} @@ -43018,8 +43020,8 @@ synonym: "delayed hypersensitivity reaction" EXACT [NCIT:C3115] synonym: "delayed-type hypersensitivity" EXACT [NCIT:C3115] synonym: "delayed-type hypersensitivity response" EXACT [NCIT:C3115] synonym: "disorder of type IV hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] -synonym: "DTH" EXACT ABBREVIATION [NCIT:C3115] -synonym: "hypersensitivity reaction type IV disease" RELATED [DOID:2916] +synonym: "DTH" EXACT ABBREVIATION [] +synonym: "hypersensitivity reaction type IV disease" RELATED [] synonym: "immunoproliferative disease" RELATED [DOID:2916] synonym: "type 4 hypersensitivity reaction" EXACT [NCIT:C3115] synonym: "type IV hypersensitivity" EXACT [NCIT:C3115] @@ -43043,13 +43045,13 @@ name: lacrimal system cancer def: "A cancer that involves the lacrimal apparatus." [MONDO:patterns/location] synonym: "cancer of lacrimal apparatus" EXACT [MONDO:patterns/cancer] synonym: "lacrimal apparatus cancer" EXACT [] -synonym: "lacrimal system neoplasm" EXACT [DOID:292] +synonym: "lacrimal system neoplasm" EXACT [DOID:292, NCIT:C5102] synonym: "lacrimal system neoplasms" EXACT [NCIT:C5102] synonym: "lacrimal system tumor" EXACT [NCIT:C5102] synonym: "lacrimal system tumour" EXACT OMO:0003005 [] synonym: "malignant lacrimal apparatus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of lacrimal apparatus" EXACT [MONDO:patterns/cancer] -synonym: "neoplasm of lacrimal system" EXACT [NCIT:C5102] +synonym: "neoplasm of lacrimal system" EXACT [DOID:292, NCIT:C5102] synonym: "neoplasm of the lacrimal system" EXACT [NCIT:C5102] synonym: "tumor of lacrimal system" EXACT [NCIT:C5102] synonym: "tumor of the lacrimal system" EXACT [DOID:292, NCIT:C5102] @@ -43074,7 +43076,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "chronic glomerulonephritis, lobular" EXACT [DOID:2920] synonym: "lobular glomerulonephritis" EXACT [DOID:2920] -synonym: "membranoproliferative glomerulonephritis" EXACT [MONDO:ambiguous] +synonym: "membranoproliferative glomerulonephritis" EXACT [DOID:2920, MONDO:ambiguous, NCIT:C34644] synonym: "membranoproliferative glomerulonephritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2920 {source="MONDO:equivalentTo"} xref: HP:0000793 {source="MONDO:otherHierarchy"} @@ -43098,7 +43100,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bright's disease" RELATED [GARD:0006516] synonym: "glomerular nephritis" EXACT [NCIT:C26784] -synonym: "glomerulonephritis" EXACT [MONDO:ambiguous] +synonym: "glomerulonephritis" EXACT [DOID:2921, MONDO:ambiguous, NCIT:C26784] synonym: "glomerulonephritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nephritis of renal glomerulus" EXACT [MONDO:design_pattern] synonym: "renal glomerulus nephritis" EXACT [MONDO:patterns/location] @@ -43127,7 +43129,7 @@ def: "A carcinoma that arises from epithelial cells of the lacrimal gland." [htt subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of lacrimal gland" EXACT [MONDO:patterns/carcinoma, NCIT:C6129] synonym: "carcinoma of the lacrimal gland" EXACT [DOID:293, NCIT:C6129] -synonym: "lacrimal gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6129] +synonym: "lacrimal gland carcinoma" EXACT [DOID:293, MONDO:patterns/location, NCIT:C6129] xref: DOID:293 {source="MONDO:equivalentTo"} xref: MEDGEN:233606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6129 {source="DOID:293", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -43143,18 +43145,18 @@ name: lacrimal gland cancer def: "A malignant neoplasm involving the lacrimal gland." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} synonym: "cancer of lacrimal gland" EXACT [MONDO:patterns/cancer] -synonym: "lacrimal gland cancer" EXACT [MONDO:patterns/location] +synonym: "lacrimal gland cancer" EXACT [DOID:294, MONDO:patterns/location] synonym: "malignant lacrimal gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3563] synonym: "malignant lacrimal gland tumor" EXACT [NCIT:C3563] synonym: "malignant lacrimal gland tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of lacrimal gland" EXACT [DOID:294, MONDO:patterns/cancer, NCIT:C3563] synonym: "malignant neoplasm of the lacrimal gland" EXACT [NCIT:C3563] -synonym: "malignant tumor of lacrimal gland" EXACT [DOID:294, NCIT:C3563] +synonym: "malignant tumor of lacrimal gland" EXACT [NCIT:C3563] synonym: "malignant tumor of the lacrimal gland" EXACT [NCIT:C3563] -synonym: "malignant tumour of lacrimal gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of lacrimal gland" EXACT OMO:0003005 [DOID:294] synonym: "malignant tumour of the lacrimal gland" EXACT OMO:0003005 [] -synonym: "neoplasm of lacrimal gland" BROAD EXCLUDE [DOID:294] -synonym: "tumor of the lacrimal gland" BROAD [DOID:294, NCIT:C4360] +synonym: "neoplasm of lacrimal gland" BROAD EXCLUDE [] +synonym: "tumor of the lacrimal gland" BROAD [] synonym: "tumour of the lacrimal gland" BROAD OMO:0003005 [] xref: DOID:294 {source="MONDO:equivalentTo"} xref: ICD9:190.2 {source="DOID:294"} @@ -43179,7 +43181,7 @@ id: MONDO:0002465 name: bronchiolitis def: "Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "bronchiolitis" EXACT [MONDO:ambiguous] +synonym: "bronchiolitis" EXACT [DOID:2942, MONDO:ambiguous, NCIT:C39658] synonym: "bronchiolitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "RSV bronchiolitis" NARROW [https://github.com/monarch-initiative/mondo/issues/619] synonym: "viral bronchiolitis" NARROW [https://github.com/monarch-initiative/mondo/issues/619] @@ -43200,10 +43202,10 @@ id: MONDO:0002466 name: eye carcinoma def: "A carcinoma that arises from epithelial cells of the eye" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "carcinoma of eye" EXACT [DOID:295, MONDO:patterns/carcinoma, NCIT:C6079] +synonym: "carcinoma of eye" EXACT [MONDO:patterns/carcinoma, NCIT:C6079] synonym: "carcinoma of eyeball of camera-type eye" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the eye" EXACT [NCIT:C6079] -synonym: "eye carcinoma" EXACT [MONDO:patterns/location, NCIT:C6079] +synonym: "eye carcinoma" EXACT [DOID:295, MONDO:patterns/location, NCIT:C6079] synonym: "eyeball of camera-type eye carcinoma" EXACT [] synonym: "ocular carcinoma" EXACT [DOID:295, NCIT:C6079] xref: DOID:295 {source="MONDO:equivalentTo"} @@ -43228,7 +43230,7 @@ synonym: "internal ear disease" EXACT [MONDO:patterns/location] synonym: "internal ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "internal Ear disorder" EXACT [NCIT:C27166] synonym: "labyrinthine disease" EXACT [DOID:2952] -synonym: "vestibular disorder" NARROW [NCIT:C27166] +synonym: "vestibular disorder" NARROW [] xref: DOID:2952 {source="MONDO:equivalentTo"} xref: EFO:0009672 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H80-H83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="DOID:2952", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -43256,7 +43258,7 @@ name: hyperimmunoglobulin syndrome subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyperimmunoglobulin syndrome" EXACT [NCIT:C27579] +synonym: "hyperimmunoglobulin syndrome" EXACT [DOID:2959, NCIT:C27579] xref: DOID:2959 {source="MONDO:equivalentTo"} xref: MEDGEN:272730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27579 {source="MONDO:equivalentTo", source="DOID:2959"} @@ -43271,20 +43273,20 @@ id: MONDO:0002469 name: lacrimal gland carcinoma ex pleomorphic adenoma alt_id: MONDO:0021278 def: "A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland." [NCIT:C6804] -synonym: "carcinoma ex pleomorphic adenoma of lacrimal gland" EXACT [NCIT:C6804] +synonym: "carcinoma ex pleomorphic adenoma of lacrimal gland" EXACT [DOID:296, NCIT:C6804] synonym: "carcinoma Ex pleomorphic adenoma of the lacrimal gland" EXACT [DOID:296, NCIT:C6804] -synonym: "carcinoma ex pleomorphic adenoma of the lacrimal gland" EXACT [NCIT:C6804] +synonym: "carcinoma ex pleomorphic adenoma of the lacrimal gland" EXACT [DOID:296, NCIT:C6804] synonym: "lacrimal gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location, NCIT:C6804] synonym: "lacrimal gland malignant mixed neoplasm" EXACT [MONDO:patterns/location, NCIT:C6804] synonym: "lacrimal gland malignant mixed tumor" EXACT [NCIT:C6804] synonym: "lacrimal gland malignant mixed tumour" EXACT OMO:0003005 [] -synonym: "malignant mixed neoplasm of lacrimal gland" EXACT [DOID:296, NCIT:C6090, NCIT:C6804] +synonym: "malignant mixed neoplasm of lacrimal gland" EXACT [DOID:296, NCIT:C6804] synonym: "malignant mixed neoplasm of the lacrimal gland" EXACT [NCIT:C6804] synonym: "malignant mixed tumor of lacrimal gland" EXACT [NCIT:C6804] synonym: "malignant mixed tumor of the lacrimal gland" EXACT [NCIT:C6804] synonym: "malignant mixed tumour of lacrimal gland" EXACT OMO:0003005 [] synonym: "malignant mixed tumour of the lacrimal gland" EXACT OMO:0003005 [] -synonym: "mixed lacrimal gland cancer" RELATED [DOID:296] +synonym: "mixed lacrimal gland cancer" RELATED [] xref: DOID:296 {source="MONDO:equivalentTo"} xref: MEDGEN:138058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6804 {source="MONDO:equivalentTo", source="DOID:296"} @@ -43305,12 +43307,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IBIDS syndrome" EXACT [DOID:2960, Orphanet:453] +synonym: "IBIDS syndrome" EXACT [DOID:2960] synonym: "Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature" RELATED [GARD:0002944] synonym: "sulfur-deficient brittle hair syndrome" EXACT [DOID:2960] synonym: "Tay syndrome" EXACT [DOID:2960] -synonym: "trichothiodystrophy" BROAD [DOID:2960, NCIT:C4924] -synonym: "trichothiodystrophy with congenital ichthyosis" BROAD [DOID:2960] +synonym: "trichothiodystrophy" BROAD [] +synonym: "trichothiodystrophy with congenital ichthyosis" BROAD [] synonym: "trichothiodystrophy with congenital ichtyosis" RELATED [GARD:0002944] xref: DOID:2960 {source="MONDO:equivalentTo"} xref: MEDGEN:336339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -43373,8 +43375,8 @@ name: carcinoma ex pleomorphic adenoma def: "A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases." [NCIT:C4397] subset: otar {source="MONDO:OTAR"} synonym: "carcinoma ex pleomorphic adenoma" EXACT [NCIT:C4397] -synonym: "carcinoma ex pleomorphic adenoma (morphologic abnormality)" EXACT [DOID:297] -synonym: "carcinoma in pleomorphic adenoma" EXACT [DOID:297, NCIT:C4397] +synonym: "carcinoma ex pleomorphic adenoma (morphologic abnormality)" EXACT [] +synonym: "carcinoma in pleomorphic adenoma" EXACT [NCIT:C4397] xref: ICDO:8941/3 {source="NCIT:C4397"} xref: MEDGEN:87486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4397 {source="MONDO:equivalentTo", source="DOID:297"} @@ -43391,8 +43393,8 @@ name: cystic kidney disease def: "A congenital or acquired kidney disorder characterized by the presence of renal cysts." [NCIT:C34750] subset: otar {source="MONDO:OTAR"} synonym: "cystic renal disease" EXACT [PMID:15271365] -synonym: "kidney cyst" EXACT [DOID:2975, MTH:646] -synonym: "renal cyst" EXACT [DOID:2975, NCIT:C3970] +synonym: "kidney cyst" EXACT [MTH:646] +synonym: "renal cyst" EXACT [DOID:2975] xref: DOID:2975 {source="MONDO:equivalentTo"} xref: EFO:0008615 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:Q61 {source="MONDO:equivalentTo"} @@ -43417,7 +43419,7 @@ subset: orphanet_rare {source="Orphanet:416"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hyperoxaluria, primary" EXACT [OMIMPS:259900] -synonym: "primary hyperoxaluria" EXACT [MONDO:0018478] +synonym: "primary hyperoxaluria" EXACT [DOID:2977, MONDO:0018478, NCIT:C123158, Orphanet:416] xref: DOID:2977 {source="MONDO:equivalentTo"} xref: GARD:16530 {source="MONDO:GARD"} xref: ICD10CM:E72.53 {source="DOID:2977"} @@ -43448,9 +43450,9 @@ id: MONDO:0002475 name: lacrimal gland adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the lacrimal gland" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma of lacrimal gland" EXACT [DOID:298, NCIT:C4541] +synonym: "adenocarcinoma of lacrimal gland" EXACT [NCIT:C4541] synonym: "adenocarcinoma of the lacrimal gland" EXACT [NCIT:C4541] -synonym: "lacrimal gland adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4541] +synonym: "lacrimal gland adenocarcinoma" EXACT [DOID:298, MONDO:patterns/location, NCIT:C4541] xref: DOID:298 {source="MONDO:equivalentTo"} xref: MEDGEN:87556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4541 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:298"} @@ -43466,7 +43468,7 @@ id: MONDO:0002476 name: anuria def: "Absence of urine output." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "suppression of urinary secretion" EXACT [DOID:2983] +synonym: "suppression of urinary secretion" EXACT [DOID:2983, icd11.foundation:248693056] xref: DOID:2983 {source="MONDO:equivalentTo"} xref: EFO:0009530 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:248693056 {source="MONDO:equivalentTo"} @@ -43490,7 +43492,7 @@ subset: rare synonym: "neuroendocrine neoplasm of prostate" EXACT [NCIT:C5545] synonym: "neuroendocrine neoplasm of prostate gland" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of the prostate" EXACT [NCIT:C5545] -synonym: "neuroendocrine tumor of the prostate" EXACT [DOID:2992, NCIT:C5545] +synonym: "neuroendocrine tumor of the prostate" EXACT [DOID:2992] synonym: "neuroendocrine tumour of the prostate" EXACT OMO:0003005 [] synonym: "prostate gland NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "prostate gland neuroendocrine neoplasm" EXACT [MONDO:patterns/location] @@ -43498,7 +43500,7 @@ synonym: "prostate gland neuroendocrine tumor" EXACT [MONDO:patterns/location, M synonym: "prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "prostate gland neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "prostate neuroendocrine carcinoma" RELATED [ONCOTREE:PRNE] -synonym: "prostate neuroendocrine neoplasm" EXACT [NCIT:C5545] +synonym: "prostate neuroendocrine neoplasm" EXACT [DOID:2992, NCIT:C5545] xref: DOID:2992 {source="MONDO:equivalentTo"} xref: MEDGEN:277537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5545 {source="DOID:2992", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -43514,12 +43516,12 @@ intersection_of: disease_has_location UBERON:0002367 ! prostate gland id: MONDO:0002478 name: mixed germ cell-sex cord-stromal tumor def: "A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable." [NCIT:C5241] -synonym: "mixed germ cell-Sex cord neoplasm" EXACT [NCIT:C5241] +synonym: "mixed germ cell-Sex cord neoplasm" EXACT [DOID:2996, NCIT:C5241] synonym: "mixed germ cell-Sex cord tumor" EXACT [DOID:2996, NCIT:C5241] synonym: "mixed germ cell-Sex cord tumour" EXACT OMO:0003005 [] synonym: "mixed germ cell-Sex cord-stromal neoplasm" EXACT [NCIT:C5241] -synonym: "mixed germ cell-Sex cord-stromal tumor" EXACT [NCIT:C5241] -synonym: "mixed germ cell-sex cord-stromal tumor (morphologic abnormality)" EXACT [DOID:2996] +synonym: "mixed germ cell-Sex cord-stromal tumor" EXACT [DOID:2996, NCIT:C5241] +synonym: "mixed germ cell-sex cord-stromal tumor (morphologic abnormality)" EXACT [] synonym: "mixed germ cell-Sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "mixed germ cell-sex cord-stromal tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:2996 {source="MONDO:equivalentTo"} @@ -43552,18 +43554,18 @@ name: endometrioid tumor def: "A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [NCIT:C7113] subset: otar {source="MONDO:OTAR"} synonym: "endometrioid neoplasm" EXACT [DOID:3001, NCIT:C7113] -synonym: "endometrioid neoplasm of female reproductive system" EXACT [NCIT:C7113] -synonym: "endometrioid neoplasm of the female reproductive system" EXACT [NCIT:C7113] -synonym: "endometrioid tumor" EXACT [NCIT:C7113] -synonym: "endometrioid tumor (morphologic abnormality)" EXACT [DOID:3001] -synonym: "endometrioid tumor of female reproductive system" EXACT [NCIT:C7113] -synonym: "endometrioid tumor of the female reproductive system" EXACT [NCIT:C7113] +synonym: "endometrioid neoplasm of female reproductive system" EXACT [] +synonym: "endometrioid neoplasm of the female reproductive system" EXACT [] +synonym: "endometrioid tumor" EXACT [DOID:3001, NCIT:C7113] +synonym: "endometrioid tumor (morphologic abnormality)" EXACT [] +synonym: "endometrioid tumor of female reproductive system" EXACT [] +synonym: "endometrioid tumor of the female reproductive system" EXACT [] synonym: "endometrioid tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "endometrioid tumour of female reproductive system" EXACT OMO:0003005 [] synonym: "endometrioid tumour of the female reproductive system" EXACT OMO:0003005 [] -synonym: "female reproductive endometrioid cancer" RELATED [DOID:3001] -synonym: "female reproductive endometrioid neoplasm" EXACT [DOID:3001, NCIT:C7113] -synonym: "female reproductive endometrioid tumor" EXACT [NCIT:C7113] +synonym: "female reproductive endometrioid cancer" RELATED [] +synonym: "female reproductive endometrioid neoplasm" EXACT [] +synonym: "female reproductive endometrioid tumor" EXACT [] synonym: "female reproductive endometrioid tumour" EXACT OMO:0003005 [] xref: DOID:3001 {source="MONDO:equivalentTo"} xref: MEDGEN:105374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -43582,11 +43584,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "neuroendocrine neoplasm of ovary" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5237] synonym: "neuroendocrine neoplasm of the ovary" EXACT [NCIT:C5237] -synonym: "neuroendocrine tumor of ovary" EXACT [DOID:3002, NCIT:C5237] +synonym: "neuroendocrine tumor of ovary" EXACT [DOID:3002] synonym: "neuroendocrine tumour of ovary" EXACT OMO:0003005 [] synonym: "ovarian neuroendocrine neoplasm" EXACT [NCIT:C5237] synonym: "ovary NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] -synonym: "ovary neuroendocrine neoplasm" EXACT [MONDO:patterns/location] +synonym: "ovary neuroendocrine neoplasm" EXACT [DOID:3002, MONDO:patterns/location] synonym: "ovary neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "ovary neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "ovary neuroendocrine tumour" EXACT OMO:0003005 [] @@ -43626,7 +43628,7 @@ intersection_of: disease_has_location UBERON:0002030 ! nipple id: MONDO:0002483 name: breast myoepithelial tumor def: "A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma." [NCIT:C40389] -synonym: "breast myoepithelial neoplasm" EXACT [NCIT:C40389] +synonym: "breast myoepithelial neoplasm" EXACT [DOID:3004, NCIT:C40389] synonym: "breast myoepithelial tumor" EXACT [MONDO:patterns/location, NCIT:C40389] xref: DOID:3004 {source="MONDO:equivalentTo"} xref: MEDGEN:267411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -43652,13 +43654,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "breast endocrine neoplasm" EXACT [NCIT:C5169] synonym: "breast NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] -synonym: "breast neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5169] +synonym: "breast neuroendocrine neoplasm" EXACT [DOID:3009, MONDO:patterns/location, NCIT:C5169] synonym: "breast neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "breast neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "breast neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of breast" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5169] synonym: "neuroendocrine neoplasm of the breast" EXACT [NCIT:C5169] -synonym: "neuroendocrine tumor of the breast" EXACT [DOID:3009, NCIT:C5169] +synonym: "neuroendocrine tumor of the breast" EXACT [DOID:3009] synonym: "neuroendocrine tumour of the breast" EXACT OMO:0003005 [] xref: DOID:3009 {source="MONDO:equivalentTo"} xref: MEDGEN:231969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -43676,9 +43678,9 @@ def: "A spectrum of non-invasive neoplastic lesions that arise from the terminal subset: otar {source="MONDO:OTAR"} synonym: "LIN" EXACT ABBREVIATION [NCIT:C27939] synonym: "LN" EXACT ABBREVIATION [NCIT:C27939] -synonym: "lobular carcinoma in situ" RELATED EXCLUDE [DOID:3010] +synonym: "lobular carcinoma in situ" RELATED EXCLUDE [] synonym: "lobular intraepithelial neoplasia" EXACT [DOID:3010, NCIT:C27939] -synonym: "lobular neoplasia" EXACT [NCIT:C27939] +synonym: "lobular neoplasia" EXACT [DOID:3010, NCIT:C27939] xref: DOID:3010 {source="MONDO:equivalentTo"} xref: MEDGEN:167824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27939 {source="MONDO:equivalentTo", source="DOID:3010"} @@ -43692,7 +43694,7 @@ name: breast granular cell tumor def: "A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm." [NCIT:C40400] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "breast granular cell tumor" EXACT [MONDO:patterns/location, NCIT:C40400] +synonym: "breast granular cell tumor" EXACT [DOID:3011, MONDO:patterns/location, NCIT:C40400] synonym: "granular cell tumor of breast" EXACT [MONDO:design_pattern] synonym: "granular cell tumour of breast" EXACT OMO:0003005 [] xref: DOID:3011 {source="MONDO:equivalentTo"} @@ -43725,35 +43727,35 @@ def: "A phyllodes tumor of the breast characterized by infiltrative margins and subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "breast malignant phyllodes tumor" RELATED [DOID:3016] +synonym: "breast malignant phyllodes tumor" RELATED [] synonym: "breast malignant phyllodes tumour" RELATED OMO:0003005 [] synonym: "breast phyllodes tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant breast phyllodes neoplasm" EXACT [NCIT:C4504] synonym: "malignant breast phyllodes tumor" EXACT [NCIT:C4504] -synonym: "malignant cystosarcoma phyllodes" RELATED [DOID:3016] -synonym: "malignant cystosarcoma phyllodes (morphologic abnormality)" RELATED [DOID:3016] -synonym: "malignant cystosarcoma phyllodes of breast" EXACT [NCIT:C4504] -synonym: "malignant cystosarcoma phyllodes of the breast" EXACT [NCIT:C4504] +synonym: "malignant cystosarcoma phyllodes" RELATED [] +synonym: "malignant cystosarcoma phyllodes (morphologic abnormality)" RELATED [] +synonym: "malignant cystosarcoma phyllodes of breast" EXACT [] +synonym: "malignant cystosarcoma phyllodes of the breast" EXACT [] synonym: "malignant mammary phyllodes neoplasm" EXACT [NCIT:C4504] synonym: "malignant mammary phyllodes tumor" EXACT [DOID:3016, NCIT:C4504] -synonym: "malignant mammary phyllodes tumour" EXACT OMO:0003005 [] +synonym: "malignant mammary phyllodes tumour" EXACT OMO:0003005 [DOID:3016] synonym: "malignant phyllodes breast neoplasm" EXACT [NCIT:C4504] -synonym: "malignant phyllodes neoplasm" BROAD [DOID:3016] +synonym: "malignant phyllodes neoplasm" BROAD [] synonym: "malignant phyllodes neoplasm of breast" EXACT [NCIT:C4504] synonym: "malignant phyllodes neoplasm of the breast" EXACT [NCIT:C4504] -synonym: "malignant phyllodes tumor" RELATED EXCLUDE [DOID:3016] -synonym: "malignant phyllodes tumor (morphologic abnormality)" EXACT [DOID:3016] -synonym: "malignant phyllodes tumor of breast" EXACT [NCIT:C4504] +synonym: "malignant phyllodes tumor" RELATED EXCLUDE [] +synonym: "malignant phyllodes tumor (morphologic abnormality)" EXACT [] +synonym: "malignant phyllodes tumor of breast" EXACT [DOID:3016, NCIT:C4504] synonym: "malignant phyllodes tumor of the breast" EXACT [NCIT:C4504] synonym: "malignant phyllodes tumour" RELATED OMO:0003005 [] synonym: "malignant phyllodes tumour (morphologic abnormality)" EXACT OMO:0003005 [] -synonym: "malignant phyllodes tumour of breast" EXACT OMO:0003005 [] +synonym: "malignant phyllodes tumour of breast" EXACT OMO:0003005 [DOID:3016] synonym: "malignant phyllodes tumour of the breast" EXACT OMO:0003005 [] -synonym: "phyllodes breast neoplasm" BROAD [DOID:3016] -synonym: "phyllodes breast tumor" BROAD [DOID:3016] +synonym: "phyllodes breast neoplasm" BROAD [] +synonym: "phyllodes breast tumor" BROAD [] synonym: "phyllodes breast tumour" BROAD OMO:0003005 [] -synonym: "phyllodes tumor, malignant" RELATED EXCLUDE [DOID:3016] -synonym: "phyllodes tumor, malignant (morphologic abnormality)" BROAD [DOID:3016] +synonym: "phyllodes tumor, malignant" RELATED EXCLUDE [] +synonym: "phyllodes tumor, malignant (morphologic abnormality)" BROAD [] xref: DOID:3016 {source="MONDO:equivalentTo"} xref: EFO:0008545 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:87543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -43781,9 +43783,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "breast sarcoma" EXACT [MONDO:patterns/location, NCIT:C4670] +synonym: "breast sarcoma" EXACT [DOID:3017, MONDO:patterns/location, NCIT:C4670] synonym: "PBS" RELATED ABBREVIATION [ONCOTREE:PBS] -synonym: "sarcoma of breast" EXACT [MONDO:patterns/sarcoma, NCIT:C4670] +synonym: "sarcoma of breast" EXACT [DOID:3017, MONDO:patterns/sarcoma, NCIT:C4670] synonym: "sarcoma of the breast" EXACT [NCIT:C4670] xref: DOID:3017 {source="MONDO:equivalentTo"} xref: MEDGEN:87613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -43818,7 +43820,7 @@ name: acute kidney failure def: "Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria." [NCIT:C26808] subset: otar {source="MONDO:OTAR"} synonym: "acute kidney injury" EXACT [NCIT:C26808] -synonym: "acute renal failure" EXACT [NCIT:C26808] +synonym: "acute renal failure" EXACT [icd11.foundation:476391827, NCIT:C26808] synonym: "AKI" EXACT ABBREVIATION [NCIT:C26808] synonym: "ARF" EXACT ABBREVIATION [NCIT:C26808] synonym: "kidney failure, acute" EXACT [MONDO:patterns/acute] @@ -43860,7 +43862,7 @@ name: substance-related disorder def: "A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs)." [NCIT:C92203] subset: otar {source="MONDO:OTAR"} synonym: "substance induced mood disorders" EXACT [PMID:32310347] -synonym: "substance-related disorder" EXACT [NCIT:C92203] +synonym: "substance-related disorder" EXACT [DOID:303, NCIT:C92203] xref: DOID:303 {source="MONDO:equivalentTo"} xref: ICD10CM:F10-F19 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MEDGEN:66746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -43873,9 +43875,9 @@ is_a: MONDO:0002025 {source="DOID:303", source="MESH:D019966", source="NCIT:C922 id: MONDO:0002495 name: colon signet ring cell adenocarcinoma def: "An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells." [NCIT:C7967] -synonym: "colon signet ring adenocarcinoma" RELATED [DOID:3033] +synonym: "colon signet ring adenocarcinoma" RELATED [] synonym: "colon signet Ring cell adenocarcinoma" EXACT [NCIT:C7967] -synonym: "colonic signet Ring adenocarcinoma" EXACT [DOID:3033, NCIT:C7967] +synonym: "colonic signet Ring adenocarcinoma" EXACT [DOID:3033] synonym: "colonic signet Ring cell adenocarcinoma" EXACT [NCIT:C7967] synonym: "signet Ring cell adenocarcinoma of colon" EXACT [NCIT:C7967] synonym: "signet Ring cell adenocarcinoma of the colon" EXACT [NCIT:C7967] @@ -43893,7 +43895,7 @@ intersection_of: disease_has_location UBERON:0001155 ! colon id: MONDO:0002496 name: submucosal invasive colon adenocarcinoma def: "An adenocarcinoma of the colon that has invaded into the submucosa." [NCIT:C38760] -synonym: "submucosal invasive colon adenocarcinoma" EXACT [NCIT:C38760] +synonym: "submucosal invasive colon adenocarcinoma" EXACT [DOID:3038, NCIT:C38760] xref: DOID:3038 {source="MONDO:equivalentTo"} xref: MEDGEN:271523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C38760 {source="DOID:3038", source="MONDO:equivalentTo"} @@ -43940,19 +43942,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "brain glioblastoma" EXACT [DOID:3073, NCIT:C4642] synonym: "brain glioblastoma (disease)" EXACT [MONDO:patterns/location] -synonym: "brain glioblastoma multiforme" EXACT [NCIT:C4642] +synonym: "brain glioblastoma multiforme" EXACT [DOID:3073, NCIT:C4642] synonym: "brain glioblastoma multiforme (disease)" EXACT [MONDO:patterns/location] synonym: "glioblastoma (disease) of brain" EXACT [] synonym: "glioblastoma multiforme of brain" EXACT [DOID:3073, NCIT:C4642] synonym: "glioblastoma multiforme of the brain" EXACT [NCIT:C4642] -synonym: "grade IV astrocytic neoplasm of brain" EXACT [NCIT:C4642] -synonym: "grade IV astrocytic neoplasm of the brain" EXACT [NCIT:C4642] -synonym: "grade IV astrocytic tumor of brain" EXACT [NCIT:C4642] -synonym: "grade IV astrocytic tumor of the brain" EXACT [NCIT:C4642] +synonym: "grade IV astrocytic neoplasm of brain" EXACT [] +synonym: "grade IV astrocytic neoplasm of the brain" EXACT [] +synonym: "grade IV astrocytic tumor of brain" EXACT [] +synonym: "grade IV astrocytic tumor of the brain" EXACT [] synonym: "grade IV astrocytic tumour of brain" EXACT OMO:0003005 [] synonym: "grade IV astrocytic tumour of the brain" EXACT OMO:0003005 [] -synonym: "grade IV brain astrocytic neoplasm" EXACT [NCIT:C4642] -synonym: "grade IV brain astrocytic tumor" EXACT [NCIT:C4642] +synonym: "grade IV brain astrocytic neoplasm" EXACT [] +synonym: "grade IV brain astrocytic tumor" EXACT [] synonym: "grade IV brain astrocytic tumour" EXACT OMO:0003005 [] xref: DOID:3073 {source="MONDO:equivalentTo"} xref: EFO:0006545 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -43978,9 +43980,9 @@ def: "An astrocytic tumor occurring during adulthood. Representative examples in subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult astrocytic neoplasm" EXACT [NCIT:C7049] -synonym: "adult astrocytic tumor" EXACT [NCIT:C7049] -synonym: "adult astrocytoma" EXACT [DOID:3076, NCIT:C7049] -synonym: "astrocytic tumor" BROAD [NCIT:C7049] +synonym: "adult astrocytic tumor" EXACT [DOID:3076, NCIT:C7049] +synonym: "adult astrocytoma" EXACT [DOID:3076] +synonym: "astrocytic tumor" BROAD [] synonym: "astrocytic tumour" BROAD OMO:0003005 [] xref: DOID:3076 {source="MONDO:equivalentTo"} xref: MEDGEN:272290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -44002,21 +44004,21 @@ name: childhood astrocytic tumor def: "An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location." [NCIT:C9022] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "astrocytic tumor" BROAD [NCIT:C9022] +synonym: "astrocytic tumor" BROAD [] synonym: "astrocytic tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "astrocytic tumors, childhood" EXACT [NCIT:C9022] synonym: "astrocytic tumour" BROAD OMO:0003005 [] synonym: "astrocytic tumour of childhood" EXACT OMO:0003005 [] synonym: "childhood astrocytic neoplasm" EXACT [NCIT:C9022] -synonym: "childhood astrocytic tumor" EXACT [NCIT:C9022] -synonym: "juvenile astrocytoma" EXACT [DOID:3079] -synonym: "juvenile astrocytoma (morphologic abnormality)" EXACT [DOID:3079] +synonym: "childhood astrocytic tumor" EXACT [DOID:3079, NCIT:C9022] +synonym: "juvenile astrocytoma" EXACT [DOID:3079, NCIT:C9022] +synonym: "juvenile astrocytoma (morphologic abnormality)" EXACT [] synonym: "paediatric astrocytic neoplasm" EXACT OMO:0003005 [] synonym: "paediatric astrocytic tumour" EXACT OMO:0003005 [] synonym: "paediatric astrocytoma" EXACT OMO:0003005 [] synonym: "pediatric astrocytic neoplasm" EXACT [NCIT:C9022] synonym: "pediatric astrocytic tumor" EXACT [MONDO:patterns/childhood, NCIT:C9022] -synonym: "pediatric astrocytoma" EXACT [DOID:3079, NCIT:C9022] +synonym: "pediatric astrocytoma" EXACT [DOID:3079] xref: DOID:3079 {source="MONDO:equivalentTo"} xref: MEDGEN:272112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9022 {source="DOID:3079", source="MONDO:equivalentTo"} @@ -44041,7 +44043,7 @@ name: gingival overgrowth def: "Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574)" [MESH:D019214] subset: otar {source="MONDO:OTAR"} synonym: "gingival enlargement" EXACT [DOID:3086] -synonym: "gingival enlargement NOS" RELATED EXCLUDE [DOID:3086] +synonym: "gingival enlargement NOS" RELATED EXCLUDE [] xref: DOID:3086 {source="MONDO:equivalentTo"} xref: ICD10CM:K06.1 {source="DOID:3086"} xref: ICD9:523.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -44058,10 +44060,10 @@ id: MONDO:0002508 name: gingivitis def: "A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth." [NCIT:C34636] subset: otar {source="MONDO:OTAR"} -synonym: "acute gingivitis" NARROW [DOID:3087] -synonym: "chronic gingivitis" NARROW [DOID:3087, ICD9CM:523.1] +synonym: "acute gingivitis" NARROW [] +synonym: "chronic gingivitis" NARROW [ICD9CM:523.1] synonym: "gingiva inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "gingivitis" EXACT [NCIT:C34636] +synonym: "gingivitis" EXACT [DOID:3087, NCIT:C34636] synonym: "inflammation of gingiva" EXACT [] xref: DOID:3087 {source="MONDO:equivalentTo"} xref: ICD10CM:K05.0 {source="DOID:3087"} @@ -44093,7 +44095,7 @@ intersection_of: disease_has_inflammation_site UBERON:0001828 ! gingiva id: MONDO:0002509 name: non-specific granulomatous orchitis def: "Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena." [NCIT:P378] -synonym: "granulomatous orchitis" BROAD [DOID:3089, NCIT:C27162] +synonym: "granulomatous orchitis" BROAD [] xref: DOID:3089 {source="MONDO:equivalentTo"} xref: MEDGEN:98504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27162 {source="DOID:3089", source="MONDO:equivalentTo"} @@ -44107,7 +44109,7 @@ id: MONDO:0002510 name: obsolete germ cell and embryonal cancer def: "OBSOLETE. Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus." [MESH:D009373] comment: Embryonal malignancies are composed of primitive (immature) tissues and do not originate from the germinal layer. Germ cell malignancies originate from the germinal layer. This is a poor term, should be removed. -synonym: "germ cell and embryonal neoplasm" RELATED [DOID:3095] +synonym: "germ cell and embryonal neoplasm" RELATED [] xref: DOID:3095 {source="MONDO:obsoleteEquivalent"} xref: MESH:D009373 {source="MONDO:obsoleteEquivalent", source="DOID:3095"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/376" xsd:anyURI @@ -44132,11 +44134,11 @@ name: papillary adenocarcinoma def: "A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma." [NCIT:C2853] subset: otar {source="MONDO:OTAR"} synonym: "adenocarcinoma, papillary, malignant" EXACT [NCIT:C2853] -synonym: "infiltrating and papillary adenocarcinoma" NARROW [DOID:3112] -synonym: "infiltrating papillary adenocarcinoma" NARROW [DOID:3112] +synonym: "infiltrating and papillary adenocarcinoma" NARROW [] +synonym: "infiltrating papillary adenocarcinoma" NARROW [] synonym: "papillary adenocarcinoma" EXACT [DOID:3112, NCIT:C2853] -synonym: "papillary adenocarcinoma (morphologic abnormality)" EXACT [DOID:3112] -synonym: "papillary adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3112] +synonym: "papillary adenocarcinoma (morphologic abnormality)" EXACT [] +synonym: "papillary adenocarcinoma NOS (morphologic abnormality)" EXACT [] xref: DOID:3112 {source="MONDO:equivalentTo"} xref: ICDO:8260/3 {source="NCIT:C2853"} xref: MEDGEN:123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -44169,8 +44171,8 @@ synonym: "benign tumor of kidney" EXACT [NCIT:C4778] synonym: "benign tumor of the kidney" EXACT [NCIT:C4778] synonym: "benign tumour of kidney" EXACT OMO:0003005 [] synonym: "benign tumour of the kidney" EXACT OMO:0003005 [] -synonym: "kidney benign neoplasm" EXACT [MONDO:patterns/location] -synonym: "renal and ureteral tumor" EXACT [DOID:3116, NCIT:C7514] +synonym: "kidney benign neoplasm" EXACT [DOID:3116, MONDO:patterns/location] +synonym: "renal and ureteral tumor" EXACT [DOID:3116] synonym: "renal and ureteral tumour" EXACT OMO:0003005 [] synonym: "renal neoplasm, benign" EXACT [NCIT:C4778] synonym: "renal tumor, benign" EXACT [NCIT:C4778] @@ -44199,7 +44201,7 @@ synonym: "hepatic, biliary, and gallbladder neoplasms" EXACT [NCIT:C8614] synonym: "hepato-biliary neoplasm" EXACT [NCIT:C8614] synonym: "hepato-biliary tumor" EXACT [NCIT:C8614] synonym: "hepato-biliary tumour" EXACT OMO:0003005 [] -synonym: "hepatobiliary benign neoplasm" NARROW [DOID:3117] +synonym: "hepatobiliary benign neoplasm" NARROW [] synonym: "hepatobiliary neoplasm" EXACT [NCIT:C8614] synonym: "hepatobiliary system neoplasm" EXACT [] synonym: "hepatobiliary system neoplasm (disease)" EXACT [MONDO:patterns/location] @@ -44258,10 +44260,10 @@ def: "A primary or metastatic malignant neoplasm involving any part of the diges subset: otar {source="MONDO:OTAR"} synonym: "cancer of digestive system" EXACT [MONDO:patterns/cancer] synonym: "digestive system cancer" EXACT [DOID:3119, MONDO:patterns/location] -synonym: "gastrointestinal cancer, NOS" RELATED EXCLUDE [NCIT:C4890] -synonym: "gastrointestinal system cancer" EXACT [NCIT:C4890] -synonym: "gastrointestinal tract cancer" EXACT [DOID:3119, NCIT:C4890] -synonym: "GI tumor" BROAD [DOID:3119, NCIT:C3052] +synonym: "gastrointestinal cancer, NOS" RELATED EXCLUDE [] +synonym: "gastrointestinal system cancer" EXACT [DOID:3119, NCIT:C4890] +synonym: "gastrointestinal tract cancer" EXACT [DOID:3119] +synonym: "GI tumor" BROAD [] synonym: "GI tumour" BROAD OMO:0003005 [] synonym: "malignant digestive system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4890] synonym: "malignant gastrointestinal neoplasm" EXACT [NCIT:C4890] @@ -44308,7 +44310,7 @@ name: gallbladder papillary neoplasm def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present." [NCIT:C7130] synonym: "gall bladder papillary epithelial neoplasm" EXACT [MONDO:patterns/location] synonym: "gallbladder papillary neoplasm" EXACT [NCIT:C7130] -synonym: "gallbladder papillomatosis" EXACT [NCIT:C7130] +synonym: "gallbladder papillomatosis" EXACT [DOID:3120, NCIT:C7130] synonym: "intracystic papillary neoplasm" EXACT [NCIT:C7130] xref: DOID:3120 {source="MONDO:equivalentTo"} xref: MEDGEN:234293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -44329,19 +44331,19 @@ def: "A non-neoplastic or neoplastic disorder that affects the anal canal or ana subset: otar {source="MONDO:OTAR"} synonym: "anal disease" EXACT [DOID:3128] synonym: "anal disorder" EXACT [NCIT:C26695] -synonym: "anal fissure" RELATED [DOID:3128] -synonym: "anal fissure and fistula" RELATED [DOID:3128] -synonym: "anal ulcer" RELATED [DOID:3128] -synonym: "anus disease" EXACT [MONDO:patterns/location] +synonym: "anal fissure" RELATED [] +synonym: "anal fissure and fistula" RELATED [] +synonym: "anal ulcer" RELATED [] +synonym: "anus disease" EXACT [DOID:3128, MONDO:patterns/location] synonym: "anus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of anus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of anus" EXACT [] synonym: "disorder of anal region" EXACT [] synonym: "disorder of anus" EXACT [MONDO:patterns/location_top] -synonym: "fissure in ano" RELATED [DOID:3128] -synonym: "nontraumatic tear of anus" RELATED [DOID:3128] -synonym: "solitary anal ulcer" RELATED [DOID:3128] -synonym: "Ulcer of anus" RELATED [DOID:3128] +synonym: "fissure in ano" RELATED [] +synonym: "nontraumatic tear of anus" RELATED [] +synonym: "solitary anal ulcer" RELATED [] +synonym: "Ulcer of anus" RELATED [] xref: DOID:3128 {source="MONDO:equivalentTo"} xref: EFO:0009660 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -44363,14 +44365,14 @@ subset: gard_rare {source="GARD:19255", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:659694"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acute hepatic porphyria" NARROW [NCIT:C133887] -synonym: "acute porphyria" RELATED [DOID:3133, GTR:AN0932921] -synonym: "ALAD deficiency" EXACT [NCIT:C133887] -synonym: "Delta-aminolevulinate dehydratase deficiency" EXACT [NCIT:C133887] -synonym: "hepatic porphyria" EXACT [MESH:D017094, MONDO:0019798] +synonym: "acute hepatic porphyria" NARROW [] +synonym: "acute porphyria" RELATED [GTR:AN0932921] +synonym: "ALAD deficiency" EXACT [] +synonym: "Delta-aminolevulinate dehydratase deficiency" EXACT [] +synonym: "hepatic porphyria" EXACT [DOID:3133, MESH:D017094, MONDO:0019798, Orphanet:659694] synonym: "hepatic Porphyrias" RELATED [MESH:D017094] synonym: "liver porphyria" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "porphobilinogen synthase deficiency" EXACT [NCIT:C133887] +synonym: "porphobilinogen synthase deficiency" EXACT [] synonym: "porphyria of liver" EXACT [MONDO:design_pattern] synonym: "porphyria, hepatic" RELATED [MESH:D017094] xref: DOID:3133 {source="MONDO:equivalentTo"} @@ -44403,21 +44405,21 @@ id: MONDO:0002522 name: tenosynovial giant cell tumor def: "A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse." [NCIT:C3402] subset: otar {source="MONDO:OTAR"} -synonym: "fibrous histiocytoma of tendon sheath" EXACT [NCIT:C3402] +synonym: "fibrous histiocytoma of tendon sheath" EXACT [DOID:314, NCIT:C3402] synonym: "giant cell neoplasm of tendon sheath" EXACT [NCIT:C3402] synonym: "giant cell neoplasm of Tenosynovium" EXACT [NCIT:C3402] synonym: "giant cell neoplasm of the Tenosynovium" EXACT [NCIT:C3402] synonym: "giant cell tumor of tendon sheath" EXACT [DOID:314, ICD9CM:727.02, NCIT:C3402] synonym: "giant cell tumor of Tenosynovium" EXACT [DOID:314, NCIT:C3402] synonym: "giant cell tumor of the Tenosynovium" EXACT [NCIT:C3402] -synonym: "giant cell tumour of tendon sheath" EXACT OMO:0003005 [] -synonym: "giant cell tumour of Tenosynovium" EXACT OMO:0003005 [] +synonym: "giant cell tumour of tendon sheath" EXACT OMO:0003005 [DOID:314] +synonym: "giant cell tumour of Tenosynovium" EXACT OMO:0003005 [DOID:314] synonym: "giant cell tumour of the Tenosynovium" EXACT OMO:0003005 [] synonym: "tendon sheath giant cell neoplasm" EXACT [NCIT:C3402] synonym: "tendon sheath giant cell tumor" EXACT [MONDO:patterns/location, NCIT:C3402] synonym: "tendon sheath giant cell tumour" EXACT OMO:0003005 [] synonym: "tenosynovial giant cell neoplasm" EXACT [NCIT:C3402] -synonym: "tenosynovial giant cell tumor" EXACT [MONDO:0006443, NCIT:C3402] +synonym: "tenosynovial giant cell tumor" EXACT [DOID:314, MONDO:0006443, NCIT:C3402] xref: DOID:314 {source="MONDO:equivalentTo"} xref: EFO:1000562 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:727.02 {source="DOID:314"} @@ -44442,8 +44444,8 @@ name: cutaneous mucinosis def: "The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses)." [ISBN-13:978-0-7020-3485-5] comment: Editor note: consider splitting by location subset: otar {source="MONDO:OTAR"} -synonym: "mucinoses" RELATED [DOID:3141] -synonym: "mucinosis" EXACT [DOID:3141, MESH:D017520] +synonym: "mucinoses" RELATED [] +synonym: "mucinosis" EXACT [MESH:D017520] synonym: "mucinosis affecting the skin" EXACT [] xref: DOID:3141 {source="MONDO:equivalentTo"} xref: icd11.foundation:2018255084 {source="MONDO:equivalentTo"} @@ -44474,9 +44476,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "disorder of lipid metabolism" BROAD [MONDO:0017707] synonym: "dyslipidaemia" BROAD OMO:0003005 [] -synonym: "dyslipidemia" BROAD [DOID:3146] -synonym: "fatty acid metabolism disorder" RELATED [DOID:3146] -synonym: "lipid metabolism disorder" BROAD [DOID:3146] +synonym: "dyslipidemia" BROAD [] +synonym: "fatty acid metabolism disorder" RELATED [] +synonym: "lipid metabolism disorder" BROAD [] xref: DOID:3146 {source="MONDO:equivalentTo"} xref: GARD:21314 {source="MONDO:GARD"} xref: ICD9:272.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -44499,7 +44501,7 @@ name: dermal unilateral segmental cavernous angioma subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "unilateral segmental cavernous hemangioma" EXACT [DOID:3148] -synonym: "unilateral segmental cavernous hemangioma of the skin" EXACT [DOID:3148, NCIT:C4750] +synonym: "unilateral segmental cavernous hemangioma of the skin" EXACT [DOID:3148] xref: DOID:3148 {source="MONDO:equivalentTo"} xref: MEDGEN:634347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:254783008 {source="DOID:3148"} @@ -44542,9 +44544,9 @@ synonym: "synovial membrane of synovial joint neoplasm" EXACT [] synonym: "synovial membrane of synovial joint neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "synovial membrane of synovial joint tumor" EXACT [MONDO:patterns/neoplasm] synonym: "synovial membrane of synovial joint tumour" EXACT OMO:0003005 [] -synonym: "synovial neoplasm" EXACT [NCIT:C8964] -synonym: "synovial neoplasm (morphologic abnormality)" EXACT [DOID:315] -synonym: "synovial neoplasm NOS (morphologic abnormality)" EXACT [DOID:315] +synonym: "synovial neoplasm" EXACT [DOID:315, NCIT:C8964] +synonym: "synovial neoplasm (morphologic abnormality)" EXACT [] +synonym: "synovial neoplasm NOS (morphologic abnormality)" EXACT [] synonym: "synovial tumor" EXACT [NCIT:C8964] synonym: "synovial tumour" EXACT OMO:0003005 [] synonym: "tumor of synovial membrane of synovial joint" EXACT [MONDO:patterns/neoplasm] @@ -44574,9 +44576,9 @@ synonym: "epidermoid carcinoma of skin" EXACT [NCIT:C4819] synonym: "epidermoid carcinoma of the skin" EXACT [NCIT:C4819] synonym: "epidermoid skin carcinoma" EXACT [DOID:3151, NCIT:C4819] synonym: "skin squamous cell cancer" EXACT [NCIT:C4819] -synonym: "skin squamous cell carcinoma" EXACT [NCIT:C4819] -synonym: "squamous cell carcinoma - skin" EXACT [NCIT:C4819] -synonym: "squamous cell carcinoma of skin" EXACT [DOID:3151, NCIT:C4819] +synonym: "skin squamous cell carcinoma" EXACT [DOID:3151, NCIT:C4819] +synonym: "squamous cell carcinoma - skin" EXACT [] +synonym: "squamous cell carcinoma of skin" EXACT [NCIT:C4819] synonym: "squamous cell carcinoma of the skin" EXACT [NCIT:C4819] synonym: "squamous cell skin carcinoma" EXACT [NCIT:C4819] synonym: "zone of skin squamous cell carcinoma" EXACT [MONDO:patterns/location] @@ -44602,12 +44604,12 @@ id: MONDO:0002531 name: skin neoplasm def: "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "neoplasm of skin" EXACT [NCIT:C3372] +synonym: "neoplasm of skin" EXACT [DOID:3165, NCIT:C3372] synonym: "neoplasm of skin by site" EXACT [DOID:3165] synonym: "neoplasm of the skin" EXACT [NCIT:C3372] synonym: "neoplasm of zone of skin" EXACT [MONDO:patterns/neoplasm] synonym: "skin" RELATED [ONCOTREE:SKIN] -synonym: "skin benign neoplasm" RELATED [DOID:3165] +synonym: "skin benign neoplasm" RELATED [] synonym: "skin neoplasm" EXACT [DOID:3165, NCIT:C3372] synonym: "skin neoplasms" EXACT [NCIT:C3372] synonym: "skin tumor" EXACT [NCIT:C3372] @@ -44646,9 +44648,9 @@ subset: otar {source="MONDO:OTAR"} synonym: "epidermoid cell neoplasm" EXACT [NCIT:C3792] synonym: "epidermoid cell tumor" EXACT [DOID:3168, NCIT:C3792] synonym: "epidermoid cell tumour" EXACT OMO:0003005 [] -synonym: "squamous cell neoplasm" EXACT [NCIT:C3792] -synonym: "squamous cell tumor" EXACT [NCIT:C3792] -synonym: "squamous cell tumor (qualifier value)" EXACT [DOID:3168] +synonym: "squamous cell neoplasm" EXACT [DOID:3168, NCIT:C3792] +synonym: "squamous cell tumor" EXACT [DOID:3168, NCIT:C3792] +synonym: "squamous cell tumor (qualifier value)" EXACT [] synonym: "squamous cell tumour" EXACT OMO:0003005 [] synonym: "squamous cell tumour (qualifier value)" EXACT OMO:0003005 [] xref: DOID:3168 {source="MONDO:equivalentTo"} @@ -44667,9 +44669,9 @@ name: papillary adenoma def: "An adenoma characterized by the presence of papillary epithelial patterns." [NCIT:C79951] subset: otar {source="MONDO:OTAR"} synonym: "adenoma, papillary, benign" EXACT [NCIT:C79951] -synonym: "glandular papilloma" RELATED [DOID:3172, NCIT:C6880] -synonym: "papillary adenoma" EXACT [NCIT:C79951] -synonym: "papillary adenoma NOS (morphologic abnormality)" EXACT [DOID:3172] +synonym: "glandular papilloma" RELATED [] +synonym: "papillary adenoma" EXACT [DOID:3172, NCIT:C79951] +synonym: "papillary adenoma NOS (morphologic abnormality)" EXACT [] xref: DOID:3172 {source="MONDO:equivalentTo"} xref: MEDGEN:59999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D000236 {source="DOID:3172"} @@ -44690,7 +44692,7 @@ def: "A benign epithelial neoplasm that arises from the fallopian tube. It is ch subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "fallopian tube papilloma" EXACT [MONDO:patterns/location, NCIT:C40112] -synonym: "fallopian tube serous papilloma" EXACT [NCIT:C40112] +synonym: "fallopian tube serous papilloma" EXACT [DOID:3173, NCIT:C40112] xref: DOID:3173 {source="MONDO:equivalentTo"} xref: MEDGEN:275874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40112 {source="MONDO:equivalentTo", source="DOID:3173"} @@ -44720,8 +44722,8 @@ synonym: "basosquamous tumor, benign" EXACT [NCIT:C4614] synonym: "cutaneous papilloma" EXACT [DOID:3178, NCIT:C4614] synonym: "papilloma of skin" EXACT [DOID:3178, NCIT:C4614] synonym: "papilloma of the skin" EXACT [NCIT:C4614] -synonym: "skin papilloma" EXACT [NCIT:C4614] -synonym: "skin papilloma NOS" RELATED EXCLUDE [DOID:3178] +synonym: "skin papilloma" EXACT [DOID:3178, NCIT:C4614] +synonym: "skin papilloma NOS" RELATED EXCLUDE [] synonym: "zone of skin papilloma" EXACT [MONDO:patterns/location] xref: DOID:3178 {source="MONDO:equivalentTo"} xref: MEDGEN:91127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -44773,7 +44775,7 @@ name: childhood oligodendroglioma def: "An oligodendroglioma that arises from the central nervous system and occurs during childhood." [NCIT:C4045] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "oligodendroglioma" BROAD [NCIT:C4045] +synonym: "oligodendroglioma" BROAD [] synonym: "oligodendroglioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric oligodendroglioma" EXACT OMO:0003005 [] synonym: "pediatric oligodendroglioma" EXACT [DOID:3183, MONDO:patterns/childhood, NCIT:C4045] @@ -44793,8 +44795,8 @@ name: spinal cord oligodendroglioma def: "A oligodendroglioma that involves the spinal cord." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "oligodendroglioma of spinal cord" EXACT [NCIT:C4535] -synonym: "spinal cord oligodendroglioma" EXACT [MONDO:patterns/location, NCIT:C4535] +synonym: "oligodendroglioma of spinal cord" EXACT [DOID:3184, NCIT:C4535] +synonym: "spinal cord oligodendroglioma" EXACT [DOID:3184, MONDO:patterns/location, NCIT:C4535] synonym: "well differentiated spinal cord oligodendroglial tumor" EXACT [NCIT:C4535] synonym: "well differentiated spinal cord oligodendroglial tumour" EXACT OMO:0003005 [] synonym: "well differentiated spinal cord oligodendroglioma" EXACT [DOID:3184, NCIT:C4535] @@ -44816,14 +44818,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glial neoplasm spinal cord" EXACT [DOID:3185, NCIT:C4534] -synonym: "glial tumor of spinal cord" EXACT [NCIT:C4534] +synonym: "glial tumor of spinal cord" EXACT [DOID:3185, NCIT:C4534] synonym: "glial tumour of spinal cord" EXACT OMO:0003005 [] synonym: "glioma of spinal cord" EXACT [DOID:3185] synonym: "malignant glioma of spinal cord" EXACT [MONDO:design_pattern] synonym: "spinal cord glial neoplasm" EXACT [NCIT:C4534] synonym: "spinal cord glial tumor" EXACT [NCIT:C4534] synonym: "spinal cord glial tumour" EXACT OMO:0003005 [] -synonym: "spinal cord glioma" EXACT [NCIT:C4534] +synonym: "spinal cord glioma" EXACT [DOID:3185, NCIT:C4534] synonym: "spinal cord malignant glioma" EXACT [MONDO:patterns/location] xref: DOID:3185 {source="MONDO:equivalentTo"} xref: MEDGEN:423646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -44843,11 +44845,11 @@ name: adult oligodendroglioma def: "An oligodendroglioma occurring during adulthood." [NCIT:C4014] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult brain oligodendroglioma" NARROW [DOID:3186] -synonym: "adult oligodendroglioma" EXACT [NCIT:C4014] +synonym: "adult brain oligodendroglioma" NARROW [] +synonym: "adult oligodendroglioma" EXACT [DOID:3186, NCIT:C4014] synonym: "grade II adult oligodendroglial tumor" EXACT [DOID:3186, NCIT:C4014] synonym: "grade II adult oligodendroglial tumour" EXACT OMO:0003005 [] -synonym: "oligodendroglioma" BROAD [NCIT:C4014] +synonym: "oligodendroglioma" BROAD [] synonym: "oligodendroglioma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:3186 {source="MONDO:equivalentTo"} xref: MEDGEN:75924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -44868,7 +44870,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "brain oligodendroglioma" EXACT [DOID:3187, MONDO:patterns/location, NCIT:C9377] -synonym: "oligodendroglioma of brain" EXACT [NCIT:C9377] +synonym: "oligodendroglioma of brain" EXACT [DOID:3187, NCIT:C9377] synonym: "oligodendroglioma of the brain" EXACT [NCIT:C9377] xref: DOID:3187 {source="MONDO:equivalentTo"} xref: MEDGEN:91095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -44890,7 +44892,7 @@ synonym: "disease of the spinal cord" EXACT [ISBN-13:978-1-259-64403-0] synonym: "disease or disorder of spinal cord" EXACT [] synonym: "disorder of spinal cord" EXACT [MONDO:patterns/location_top] synonym: "myelopathy" RELATED [DOID:319] -synonym: "spinal cord disease" EXACT [MONDO:patterns/location] +synonym: "spinal cord disease" EXACT [DOID:319, MONDO:patterns/location] synonym: "spinal cord disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "spinal cord disorder" EXACT [NCIT:C97110] xref: DOID:319 {source="MONDO:equivalentTo"} @@ -44924,8 +44926,8 @@ subset: orphanet_rare {source="Orphanet:252164"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign neurilemmoma" EXACT [MONDO:0004818, NCIT:C3269] -synonym: "benign schwannoma" EXACT [MONDO:0016753, NCIT:C3269] -synonym: "neurilemmoma" EXACT [NCIT:C3269, Orphanet:252164] +synonym: "benign schwannoma" EXACT [MONDO:0016753, NCIT:C3269, Orphanet:252164] +synonym: "neurilemmoma" EXACT [DOID:3192, NCIT:C3269, Orphanet:252164] synonym: "neurinoma" EXACT [NCIT:C3269] synonym: "neurolemmoma" RELATED [GARD:0004767] synonym: "peripheral fibroblastoma" EXACT [Orphanet:252164] @@ -44969,9 +44971,9 @@ subset: rare synonym: "neoplasm of nerve sheath" EXACT [NCIT:C4972] synonym: "neoplasm of the nerve sheath" EXACT [DOID:3193, NCIT:C4972] synonym: "nerve sheath neoplasm" EXACT [NCIT:C4972] -synonym: "nerve sheath tumor" EXACT [DOID:3193, NCIT:C4972] -synonym: "nerve sheath tumour" EXACT OMO:0003005 [] -synonym: "peripheral nerve sheath neoplasm" EXACT [] +synonym: "nerve sheath tumor" EXACT [NCIT:C4972] +synonym: "nerve sheath tumour" EXACT OMO:0003005 [DOID:3193] +synonym: "peripheral nerve sheath neoplasm" EXACT [DOID:3193] synonym: "tumor of nerve sheath" EXACT [NCIT:C4972] synonym: "tumour of nerve sheath" EXACT OMO:0003005 [] xref: DOID:3193 {source="MONDO:equivalentTo"} @@ -44994,7 +44996,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cellular neurilemmoma" EXACT [NCIT:C4724] synonym: "cellular neurinoma" EXACT [DOID:3196, NCIT:C4724] -synonym: "cellular schwannoma" EXACT [NCIT:C4724] +synonym: "cellular schwannoma" EXACT [DOID:3196, NCIT:C4724] synonym: "CSCHW" RELATED ABBREVIATION [ONCOTREE:CSCHW] xref: DOID:3196 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -45024,7 +45026,7 @@ synonym: "neurilemmoma of twelfth cranial nerve" EXACT [NCIT:C5434] synonym: "schwannoma of hypoglossal nerve" EXACT [NCIT:C5434] synonym: "schwannoma of the hypoglossal nerve" EXACT [NCIT:C5434] synonym: "schwannoma of the twelfth cranial nerve" EXACT [NCIT:C5434] -synonym: "schwannoma of twelfth cranial nerve" EXACT [NCIT:C5434] +synonym: "schwannoma of twelfth cranial nerve" EXACT [DOID:3197, NCIT:C5434] synonym: "twelfth cranial nerve neurilemmoma" EXACT [NCIT:C5434] synonym: "twelfth cranial nerve schwannoma" EXACT [NCIT:C5434] xref: DOID:3197 {source="MONDO:equivalentTo"} @@ -45040,14 +45042,14 @@ intersection_of: disease_has_location UBERON:0001650 ! hypoglossal nerve id: MONDO:0002550 name: hypoglossal nerve neoplasm def: "A neoplasm involving a hypoglossal nerve." [MONDO:patterns/neoplasm] -synonym: "hypoglossal nerve neoplasm" EXACT [NCIT:C5830] +synonym: "hypoglossal nerve neoplasm" EXACT [DOID:3198, NCIT:C5830] synonym: "hypoglossal nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hypoglossal nerve neoplasms" EXACT [NCIT:C5830] synonym: "hypoglossal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5830] synonym: "hypoglossal nerve tumors" EXACT [NCIT:C5830] synonym: "hypoglossal nerve tumour" EXACT OMO:0003005 [] synonym: "hypoglossal nerve tumours" EXACT OMO:0003005 [] -synonym: "neoplasm of hypoglossal nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5830] +synonym: "neoplasm of hypoglossal nerve" EXACT [DOID:3198, MONDO:patterns/neoplasm, NCIT:C5830] synonym: "neoplasm of the hypoglossal nerve" EXACT [NCIT:C5830] synonym: "neoplasm of the twelfth cranial nerve" EXACT [NCIT:C5830] synonym: "neoplasm of twelfth cranial nerve" EXACT [NCIT:C5830] @@ -45094,7 +45096,7 @@ is_a: MONDO:0002553 {source="DOID:3199", source="NCIT:C5413"} ! cerebellopontine [Term] id: MONDO:0002552 name: vascular myelopathy -synonym: "vascular myelopathies" EXACT [DOID:320, ICD9CM:336.1] +synonym: "vascular myelopathies" EXACT [DOID:320, ICD10CM:G95.1, ICD9CM:336.1] xref: DOID:320 {source="MONDO:equivalentTo"} xref: ICD10CM:G95.1 {source="MONDO:equivalentTo", source="DOID:320"} xref: ICD9:336.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:320"} @@ -45118,7 +45120,7 @@ synonym: "cerebellar Pontine angle tumor" EXACT [NCIT:C5414] synonym: "cerebellar Pontine angle tumour" EXACT OMO:0003005 [] synonym: "cerebellopontine angle neoplasm" EXACT [NCIT:C5414] synonym: "cerebellopontine angle neoplasm (disease)" EXACT [MONDO:patterns/location] -synonym: "cerebellopontine angle tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5414] +synonym: "cerebellopontine angle tumor" EXACT [DOID:3200, MONDO:patterns/neoplasm, NCIT:C5414] synonym: "neoplasm of C-P angle" EXACT [NCIT:C5414] synonym: "neoplasm of cerebellar Pontine angle" EXACT [NCIT:C5414] synonym: "neoplasm of cerebellopontine angle" EXACT [MONDO:patterns/neoplasm, NCIT:C5414] @@ -45169,7 +45171,7 @@ subset: rare synonym: "fifth cranial nerve neurilemmoma" EXACT [NCIT:C4655] synonym: "fifth cranial nerve schwannoma" EXACT [NCIT:C4655] synonym: "neurilemmoma of fifth cranial nerve" EXACT [NCIT:C4655] -synonym: "neurilemmoma of the fifth cranial nerve" EXACT [NCIT:C4655] +synonym: "neurilemmoma of the fifth cranial nerve" EXACT [DOID:3202, NCIT:C4655] synonym: "neurilemmoma of the trigeminal nerve" EXACT [NCIT:C4655] synonym: "neurilemmoma of trigeminal nerve" EXACT [NCIT:C4655] synonym: "schwannoma of fifth cranial nerve" EXACT [NCIT:C4655] @@ -45178,7 +45180,7 @@ synonym: "schwannoma of the trigeminal nerve" EXACT [NCIT:C4655] synonym: "schwannoma of trigeminal nerve" EXACT [NCIT:C4655] synonym: "trigeminal nerve schwannoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "trigeminal neurilemmoma" EXACT [DOID:3202, NCIT:C4655] -synonym: "trigeminal schwannoma" EXACT [NCIT:C4655] +synonym: "trigeminal schwannoma" EXACT [DOID:3202, NCIT:C4655] xref: DOID:3202 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:83890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -45218,11 +45220,11 @@ subset: rare synonym: "melanocytic neurilemmoma" EXACT [NCIT:C6970] synonym: "melanocytic schwannoma" EXACT [NCIT:C6970] synonym: "melanotic neurinoma" EXACT [NCIT:C6970] -synonym: "melanotic schwannoma" EXACT [NCIT:C6970] -synonym: "melanotic schwannoma (morphologic abnormality)" EXACT [DOID:3205] +synonym: "melanotic schwannoma" EXACT [DOID:3205, NCIT:C6970] +synonym: "melanotic schwannoma (morphologic abnormality)" EXACT [] synonym: "MSCHW" RELATED ABBREVIATION [ONCOTREE:MSCHW] synonym: "pigmented neurilemmoma" EXACT [DOID:3205, NCIT:C6970] -synonym: "pigmented schwannoma" EXACT [DOID:3205] +synonym: "pigmented schwannoma" EXACT [DOID:3205, NCIT:C6970] xref: DOID:3205 {source="MONDO:equivalentTo"} xref: ICD9:215.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:266292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -45240,10 +45242,10 @@ name: plexiform schwannoma def: "A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "plexiform neurilemmoma" EXACT [DOID:3206] +synonym: "plexiform neurilemmoma" EXACT [DOID:3206, NCIT:C6969] synonym: "plexiform neurinoma" EXACT [DOID:3206, NCIT:C6969] -synonym: "plexiform schwannoma" EXACT [DOID:3206] -synonym: "plexiform schwannoma (morphologic abnormality)" EXACT [DOID:3206] +synonym: "plexiform schwannoma" EXACT [DOID:3206, NCIT:C6969] +synonym: "plexiform schwannoma (morphologic abnormality)" EXACT [] xref: DOID:3206 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:277972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -45273,13 +45275,13 @@ subset: rare synonym: "disorder of lysosomal enzyme" EXACT [DOID:3211] synonym: "disorder of lysosomal enzymes" EXACT [NCIT:C61250] synonym: "inborn lysosomal enzyme disorder" EXACT [DOID:3211] -synonym: "lysosomal disease" EXACT [MONDO:0019051] +synonym: "lysosomal disease" EXACT [MONDO:0019051, Orphanet:68366] synonym: "lysosomal disorder" EXACT [] synonym: "lysosomal storage disorder" EXACT [NCIT:C61250] synonym: "lysosomal storage metabolism disorder" EXACT [DOID:3211] synonym: "lysosome disease" EXACT [] synonym: "lysosome disorder" EXACT [] -synonym: "phospholipidosis" RELATED [NCIT:C61250] +synonym: "phospholipidosis" RELATED [] xref: DOID:3211 {source="MONDO:equivalentTo"} xref: GARD:18884 {source="MONDO:GARD"} xref: icd11.foundation:656131403 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:68366"} @@ -45350,9 +45352,9 @@ synonym: "jejunum neoplasm" EXACT [] synonym: "jejunum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "jejunum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "jejunum tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm] +synonym: "neoplasm of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm, NCIT:C8401] synonym: "neoplasm of the jejunum" EXACT [NCIT:C8401] -synonym: "tumor of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm] +synonym: "tumor of jejunum" EXACT [DOID:3218, MONDO:patterns/neoplasm, NCIT:C8401] synonym: "tumor of the jejunum" EXACT [NCIT:C8401] synonym: "tumour of jejunum" EXACT OMO:0003005 [] synonym: "tumour of the jejunum" EXACT OMO:0003005 [] @@ -45466,15 +45468,15 @@ subset: ordo_disorder {source="Orphanet:46135"} subset: orphanet_rare {source="Orphanet:46135"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "central nervous system lymphoma" EXACT [MONDO:0006129, MONDO:patterns/location, NCIT:C9301] +synonym: "central nervous system lymphoma" EXACT [DOID:3234, MONDO:0006129, MONDO:patterns/location, NCIT:C9301] synonym: "CNS lymphoma" EXACT [NCIT:C9301] synonym: "lymphoma of central nervous system" EXACT [MONDO:design_pattern] synonym: "malignant lymphomas of CNS" EXACT [NCIT:C9301] synonym: "malignant lymphomas of the CNS" EXACT [NCIT:C9301] synonym: "microglioma" EXACT [DOID:3234, Wikipedia:Primary_central_nervous_system_lymphoma] -synonym: "PCNSL" EXACT ABBREVIATION [NCIT:C9301, Orphanet:46135] +synonym: "PCNSL" EXACT ABBREVIATION [Orphanet:46135] synonym: "primary brain lymphoma" EXACT [Orphanet:46135] -synonym: "primary central nervous system lymphoma" EXACT [NCIT:C9301] +synonym: "primary central nervous system lymphoma" EXACT [icd11.foundation:1133193893, NCIT:C9301, Orphanet:46135] synonym: "primary CNS lymphoma" EXACT [DOID:3234, NCIT:C9301, Orphanet:46135] synonym: "primary lymphoma, CNS" RELATED [GARD:0009318] xref: DOID:3234 {source="MONDO:equivalentTo"} @@ -45509,9 +45511,9 @@ id: MONDO:0002572 name: aspiration pneumonitis def: "Inflammation of the lungs due to the inhalation of solid or liquid material." [NCIT:C34932] subset: otar {source="MONDO:OTAR"} -synonym: "aspiration pneumonia" RELATED [NCIT:C34932] -synonym: "chemical pneumonitis" NARROW [DOID:3240] -synonym: "Mendelson's syndrome" RELATED EXCLUDE [DOID:3240] +synonym: "aspiration pneumonia" RELATED [] +synonym: "chemical pneumonitis" NARROW [] +synonym: "Mendelson's syndrome" RELATED EXCLUDE [] xref: DOID:3240 {source="MONDO:equivalentTo"} xref: EFO:1001399 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:J69.0 {source="DOID:3240"} @@ -45546,7 +45548,7 @@ subset: rare synonym: "embryonal rhabdomyosarcoma (disease) of prostate gland" EXACT [] synonym: "embryonal rhabdomyosarcoma of prostate" EXACT [NCIT:C5525] synonym: "embryonal rhabdomyosarcoma of the prostate" EXACT [DOID:3251, NCIT:C5525] -synonym: "prostate embryonal rhabdomyosarcoma" EXACT [NCIT:C5525] +synonym: "prostate embryonal rhabdomyosarcoma" EXACT [DOID:3251, NCIT:C5525] synonym: "prostate gland embryonal rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:3251 {source="MONDO:equivalentTo"} xref: MEDGEN:233873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -45591,13 +45593,13 @@ name: extrahepatic bile duct rhabdomyosarcoma def: "A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts." [NCIT:C5860] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "bile duct rhabdomyosarcoma" RELATED [DOID:3254] +synonym: "bile duct rhabdomyosarcoma" RELATED [] synonym: "bile duct rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "extrahepatic bile duct rhabdomyosarcoma" EXACT [NCIT:C5860] synonym: "extrahepatic bile duct rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "rhabdomyosarcoma (disease) of extrahepatic bile duct" EXACT [] synonym: "rhabdomyosarcoma of extrahepatic bile duct" EXACT [NCIT:C5860] -synonym: "rhabdomyosarcoma of the bile duct" EXACT [DOID:3254, NCIT:C5860] +synonym: "rhabdomyosarcoma of the bile duct" EXACT [DOID:3254] synonym: "rhabdomyosarcoma of the extrahepatic bile duct" EXACT [NCIT:C5860] xref: DOID:3254 {source="MONDO:equivalentTo"} xref: MEDGEN:473530 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -45616,10 +45618,10 @@ def: "A morphologic variant of embryonal rhabdomyosarcoma arising from organs wi subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "botryoid sarcoma" EXACT [NCIT:C9150] -synonym: "botryoid sarcoma (morphologic abnormality)" EXACT [DOID:3255] +synonym: "botryoid sarcoma" EXACT [DOID:3255, NCIT:C9150] +synonym: "botryoid sarcoma (morphologic abnormality)" EXACT [] synonym: "botryoid-type embryonal rhabdomyosarcoma" EXACT [DOID:3255, NCIT:C9150] -synonym: "sarcoma botryoides" EXACT [DOID:3255] +synonym: "sarcoma botryoides" EXACT [DOID:3255, NCIT:C9150] xref: DOID:3255 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:727079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -45658,7 +45660,7 @@ subset: rare synonym: "orbital region rhabdomyosarcoma" EXACT [] synonym: "orbital region rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "rhabdomyosarcoma (disease) of orbital region" EXACT [] -synonym: "rhabdomyosarcoma of orbit" EXACT [NCIT:C4543] +synonym: "rhabdomyosarcoma of orbit" EXACT [DOID:3259, NCIT:C4543] synonym: "rhabdomyosarcoma of the orbit" EXACT [DOID:3259, NCIT:C4543] xref: DOID:3259 {source="MONDO:equivalentTo"} xref: MEDGEN:83419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -45677,7 +45679,7 @@ def: "An uncommon variant of rhabdomyosarcoma characterized by the presence of w subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "SCRMS" RELATED ABBREVIATION [ONCOTREE:SCRMS] -synonym: "spindle cell rhabdomyosarcoma (morphologic abnormality)" EXACT [DOID:3260] +synonym: "spindle cell rhabdomyosarcoma (morphologic abnormality)" EXACT [] xref: DOID:3260 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8912/3 {source="NCIT:C6519"} @@ -45719,7 +45721,7 @@ def: "A benign neoplasm of the ovary characterized by the presence of cystic str synonym: "benign mucinous cystadenoma of ovary" EXACT [NCIT:C4512] synonym: "benign mucinous cystadenoma of the ovary" EXACT [NCIT:C4512] synonym: "benign ovarian mucinous cystadenoma" EXACT [NCIT:C4512] -synonym: "mucinous cystadenoma of ovary" EXACT [NCIT:C4512] +synonym: "mucinous cystadenoma of ovary" EXACT [DOID:3267, NCIT:C4512] synonym: "mucinous cystadenoma of the ovary" EXACT [NCIT:C4512] synonym: "ovarian mucinous cystadenoma" EXACT [DOID:3267, NCIT:C4512] synonym: "ovary mucinous cystadenoma" EXACT [MONDO:patterns/location] @@ -45751,8 +45753,8 @@ synonym: "proliferating lesion of breast without atypia" EXACT [DOID:3274] synonym: "proliferating lesion of the breast without atypia" EXACT [DOID:3274] synonym: "proliferative breast disease" EXACT [NCIT:C6940] synonym: "proliferative breast lesion" EXACT [NCIT:C6940] -synonym: "proliferative fibrocystic change" BROAD [DOID:3274, NCIT:C6940] -synonym: "proliferative type fibrocystic change of breast" EXACT [NCIT:C6940] +synonym: "proliferative fibrocystic change" BROAD [] +synonym: "proliferative type fibrocystic change of breast" EXACT [DOID:3274, NCIT:C6940] synonym: "proliferative type fibrocystic change of the breast" EXACT [NCIT:C6940] xref: DOID:3274 {source="MONDO:equivalentTo"} xref: MEDGEN:231967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -45771,24 +45773,24 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cancer of the Thymus" EXACT [NCIT:C4962] synonym: "cancer of Thymus" EXACT [NCIT:C4962] -synonym: "cancer of thymus" EXACT [MONDO:patterns/cancer] +synonym: "cancer of thymus" EXACT [MONDO:patterns/cancer, NCIT:C4962] synonym: "malignant neoplasm of the Thymus" EXACT [NCIT:C4962] synonym: "malignant neoplasm of Thymus" EXACT [NCIT:C4962] -synonym: "malignant neoplasm of thymus" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of thymus" EXACT [MONDO:patterns/cancer, NCIT:C4962] synonym: "malignant Thymus neoplasm" EXACT [NCIT:C4962] -synonym: "malignant thymus neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant thymus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4962] synonym: "malignant Thymus tumor" EXACT [NCIT:C4962] synonym: "malignant Thymus tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the Thymus" EXACT [NCIT:C4962] synonym: "malignant tumor of Thymus" EXACT [NCIT:C4962] synonym: "malignant tumour of the Thymus" EXACT OMO:0003005 [] synonym: "malignant tumour of Thymus" EXACT OMO:0003005 [] -synonym: "neoplasm of thymus" RELATED EXCLUDE [DOID:3277] -synonym: "thymic neoplasm" BROAD [DOID:3277] -synonym: "thymic tumor" BROAD [DOID:3277, NCIT:C3412] +synonym: "neoplasm of thymus" RELATED EXCLUDE [] +synonym: "thymic neoplasm" BROAD [] +synonym: "thymic tumor" BROAD [] synonym: "thymic tumour" BROAD OMO:0003005 [] -synonym: "Thymus cancer" EXACT [NCIT:C4962] -synonym: "thymus cancer" EXACT [MONDO:patterns/location] +synonym: "Thymus cancer" EXACT [DOID:3277, NCIT:C4962] +synonym: "thymus cancer" EXACT [DOID:3277, MONDO:patterns/location, NCIT:C4962] xref: DOID:3277 {source="MONDO:equivalentTo"} xref: ICD10CM:C37 {source="DOID:3277"} xref: ICD9:164.0 {source="DOID:3277", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -45809,7 +45811,7 @@ name: encapsulated thymoma def: "A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics." [NCIT:C7386] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "encapsulated thymoma" EXACT [NCIT:C7386] +synonym: "encapsulated thymoma" EXACT [DOID:3278, NCIT:C7386] xref: DOID:3278 {source="MONDO:equivalentTo"} xref: MEDGEN:232452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7386 {source="DOID:3278", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -45830,8 +45832,8 @@ synonym: "medullary thymoma" EXACT [DOID:3279, NCIT:C6454] synonym: "primary thymic epithelial neoplasm type A" EXACT [Orphanet:263310] synonym: "primary thymic epithelial tumor type A" EXACT [Orphanet:263310] synonym: "primary thymic epithelial tumour type A" EXACT OMO:0003005 [] -synonym: "spindle cell thymoma" EXACT [NCIT:C6454] -synonym: "thymoma type A" EXACT [MONDO:0016973, NCIT:C6454] +synonym: "spindle cell thymoma" EXACT [DOID:3279, NCIT:C6454] +synonym: "thymoma type A" EXACT [MONDO:0016973, NCIT:C6454, Orphanet:263310] synonym: "thymoma, medullary" EXACT [DOID:3279] xref: DOID:3279 {source="MONDO:equivalentTo"} xref: GARD:20892 {source="MONDO:GARD"} @@ -45873,8 +45875,8 @@ name: invasive malignant thymoma def: "A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues." [NCIT:C7904] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "infiltrating thymoma" EXACT [DOID:3283, NCIT:C6453] -synonym: "invasive malignant thymoma" EXACT [NCIT:C7904] +synonym: "infiltrating thymoma" EXACT [DOID:3283] +synonym: "invasive malignant thymoma" EXACT [DOID:3283, NCIT:C7904] synonym: "malignant thymoma, invasive" EXACT [NCIT:C7904] synonym: "thymoma malignant invasive" EXACT [DOID:3283, NCIT:C7904] xref: DOID:3283 {source="MONDO:equivalentTo"} @@ -45953,9 +45955,9 @@ synonym: "notochord cancer" EXACT [MONDO:patterns/location] synonym: "notochord neoplasm" EXACT [] synonym: "notochord tumor" EXACT [MONDO:patterns/neoplasm] synonym: "notochord tumour" EXACT OMO:0003005 [] -synonym: "notochordal cancer" RELATED [DOID:3303] +synonym: "notochordal cancer" RELATED [] synonym: "notochordal neoplasm" EXACT [NCIT:C7063] -synonym: "notochordal tumor" EXACT [DOID:3303, NCIT:C7063] +synonym: "notochordal tumor" EXACT [NCIT:C7063] synonym: "tumor of notochord" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of notochord" EXACT OMO:0003005 [] xref: DOID:3303 {source="MONDO:equivalentTo"} @@ -45975,7 +45977,7 @@ def: "A malignant germ cell tumor arising in the central nervous system. It is c subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "germinoma" EXACT [MONDO:ambiguous, NCIT:C3753] +synonym: "germinoma" EXACT [DOID:3304, MONDO:ambiguous] synonym: "germinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3304 {source="MONDO:equivalentTo"} xref: HP:0100620 {source="MONDO:otherHierarchy"} @@ -45998,8 +46000,8 @@ def: "A germ cell tumor characterized by the presence of an embryonal carcinoma subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "mixed embryonal carcinoma and teratoma" EXACT [DOID:3305, NCIT:C3756] -synonym: "teratocarcinoma" EXACT [NCIT:C3756] -synonym: "teratocarcinoma (morphologic abnormality)" EXACT [DOID:3305] +synonym: "teratocarcinoma" EXACT [DOID:3305, NCIT:C3756] +synonym: "teratocarcinoma (morphologic abnormality)" EXACT [] xref: DOID:3305 {source="MONDO:equivalentTo"} xref: ICDO:9081/3 {source="NCIT:C3756"} xref: MEDGEN:104913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -46023,7 +46025,7 @@ def: "A non-seminomatous germ cell tumor characterized by the presence of variou subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "teratoma" EXACT [NCIT:C3403] +synonym: "teratoma" EXACT [DOID:3307, NCIT:C3403] xref: DOID:3307 {source="MONDO:equivalentTo"} xref: ICDO:9080/1 {source="NCIT:C3403"} xref: MEDGEN:21097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -46046,8 +46048,8 @@ name: central nervous system disorder def: "A disease involving the central nervous system." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} subset: rare_grouping -synonym: "central nervous disease" EXACT [DOID:331] -synonym: "central nervous system disease" EXACT [MONDO:patterns/location, NCIT:C2934] +synonym: "central nervous disease" EXACT [] +synonym: "central nervous system disease" EXACT [DOID:331, MONDO:patterns/location, NCIT:C2934] synonym: "central nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "central nervous system disorder" EXACT [NCIT:C2934] synonym: "CNS disorder" EXACT [https://orcid.org/0000-0001-5208-3432] @@ -46086,7 +46088,7 @@ def: "A neoplasm with perivascular epithelioid cell differentiation often associ subset: gard_rare {source="GARD:12024", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "angiomyolipoma (morphologic abnormality)" EXACT [DOID:3314] +synonym: "angiomyolipoma (morphologic abnormality)" EXACT [] xref: DOID:3314 {source="MONDO:equivalentTo"} xref: GARD:12024 {source="MONDO:GARD"} xref: ICDO:8860/0 {source="NCIT:C3734"} @@ -46102,12 +46104,12 @@ id: MONDO:0002604 name: pericytic neoplasm def: "A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." [NCIT:C6528] subset: otar {source="MONDO:OTAR"} -synonym: "malignant perivascular cancer" NARROW [DOID:3316] +synonym: "malignant perivascular cancer" NARROW [] synonym: "Pericytic neoplasm" EXACT [NCIT:C6528] synonym: "Pericytic tumor" EXACT [NCIT:C6528] synonym: "Pericytic tumour" EXACT OMO:0003005 [] synonym: "perivascular neoplasm" EXACT [NCIT:C6528] -synonym: "perivascular tumor" EXACT [NCIT:C6528] +synonym: "perivascular tumor" EXACT [DOID:3316, NCIT:C6528] synonym: "perivascular tumour" EXACT OMO:0003005 [] xref: DOID:3316 {source="MONDO:equivalentTo"} xref: MEDGEN:235473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -46174,7 +46176,7 @@ def: "A small blood vessel hemorrhage into the skin and/or mucous membranes. New subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "purpura" EXACT [MONDO:ambiguous] +synonym: "purpura" EXACT [DOID:3326, MONDO:ambiguous] synonym: "purpura (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "purpuric disorder" EXACT [DOID:3326] xref: DOID:3326 {source="MONDO:equivalentTo"} @@ -46207,7 +46209,7 @@ name: frontal lobe epilepsy def: "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" [MESH:D017034] subset: otar {source="MONDO:OTAR"} synonym: "epilepsy of frontal lobe" EXACT [MONDO:design_pattern] -synonym: "frontal lobe epilepsy" EXACT [MONDO:patterns/location] +synonym: "frontal lobe epilepsy" EXACT [DOID:3331, MONDO:patterns/location] xref: DOID:3331 {source="MONDO:equivalentTo"} xref: MEDGEN:39074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D017034 {source="DOID:3331", source="MONDO:equivalentTo"} @@ -46221,7 +46223,7 @@ intersection_of: disease_has_location UBERON:0016525 ! frontal lobe id: MONDO:0002613 name: histrionic personality disorder def: "A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior." [NCIT:P378] -synonym: "histrionic personality disorder" EXACT [MONDO:ambiguous] +synonym: "histrionic personality disorder" EXACT [DOID:334, ICD10CM:F60.4, MONDO:ambiguous, NCIT:C92634] synonym: "histrionic personality disorder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:334 {source="MONDO:equivalentTo"} xref: HP:0012077 {source="MONDO:otherHierarchy"} @@ -46269,7 +46271,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "xanthelasmatosis" EXACT [DOID:3345] -synonym: "xanthomatosis" EXACT [MONDO:ambiguous] +synonym: "xanthomatosis" EXACT [DOID:3345, MONDO:ambiguous] synonym: "xanthomatosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3345 {source="MONDO:equivalentTo"} xref: HP:0000991 {source="MONDO:otherHierarchy"} @@ -46289,7 +46291,7 @@ def: "A benign, intermediate, or malignant neoplasm that arises from the mesench subset: otar {source="MONDO:OTAR"} synonym: "benign miscellaneous mesenchymal tumor" EXACT [DOID:3350] synonym: "benign miscellaneous mesenchymal tumour" EXACT OMO:0003005 [] -synonym: "mesenchymal cell neoplasm" EXACT [NCIT:C7059] +synonym: "mesenchymal cell neoplasm" EXACT [DOID:3350, NCIT:C7059] synonym: "mesenchymal cell tumor" EXACT [NCIT:C7059] synonym: "mesenchymal cell tumour" EXACT OMO:0003005 [] synonym: "mesenchymal neoplasm" EXACT [NCIT:C7059] @@ -46311,7 +46313,7 @@ def: "A high-grade malignant vascular neoplasm that arises from the bone. It is subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "angiosarcoma (disease) of bone tissue" EXACT [] -synonym: "bone angioendothelial sarcoma" EXACT [NCIT:C6479] +synonym: "bone angioendothelial sarcoma" EXACT [DOID:3351, NCIT:C6479] synonym: "bone angiosarcoma" EXACT [NCIT:C6479] synonym: "bone Hemangioendothelial sarcoma" EXACT [NCIT:C6479] synonym: "bone hemangiosarcoma" EXACT [NCIT:C6479] @@ -46338,7 +46340,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "malignant bone fibrous histiocytoma" EXACT [NCIT:C8563] -synonym: "malignant fibrous histiocytoma of bone" EXACT [NCIT:C8563] +synonym: "malignant fibrous histiocytoma of bone" EXACT [DOID:3352, NCIT:C8563] synonym: "malignant fibrous histiocytoma of the bone" EXACT [DOID:3352, NCIT:C8563] synonym: "undifferentiated high grade pleomorphic sarcoma" EXACT [NCIT:C8563] synonym: "undifferentiated high grade pleomorphic sarcoma of bone" EXACT [NCIT:C8563] @@ -46360,8 +46362,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bone fibrosarcoma" EXACT [NCIT:C6604] synonym: "bone tissue fibrosarcoma (disease)" EXACT [MONDO:patterns/location] -synonym: "fibrosarcoma of bone" EXACT [NCIT:C6604] -synonym: "fibrosarcoma of the bone" EXACT [DOID:3354, NCIT:C6604] +synonym: "fibrosarcoma of bone" EXACT [DOID:3354, NCIT:C6604] +synonym: "fibrosarcoma of the bone" EXACT [NCIT:C6604] xref: DOID:3354 {source="MONDO:equivalentTo"} xref: MEDGEN:404782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6604 {source="MONDO:equivalentTo"} @@ -46376,9 +46378,9 @@ relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3354", source="htt id: MONDO:0002620 name: localized osteosarcoma def: "A non-disseminated osteosarcoma." [NCIT:C7780] -synonym: "localised osteogenic sarcoma" EXACT OMO:0003005 [] +synonym: "localised osteogenic sarcoma" EXACT OMO:0003005 [DOID:3356] synonym: "localized osteogenic sarcoma" EXACT [DOID:3356, NCIT:C7780] -synonym: "localized osteosarcoma" EXACT [NCIT:C7780] +synonym: "localized osteosarcoma" EXACT [DOID:3356, NCIT:C7780] synonym: "osteosarcoma, localised" EXACT OMO:0003005 [] synonym: "osteosarcoma, localized" EXACT [NCIT:C7780] xref: DOID:3356 {source="MONDO:equivalentTo"} @@ -46394,9 +46396,9 @@ def: "An osteosarcoma arising from the soft tissue." [NCIT:C8810] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "extraosseous osteosarcoma" EXACT [NCIT:C8810] +synonym: "extraosseous osteosarcoma" EXACT [DOID:3357, NCIT:C8810] synonym: "extraskeletal osteogenic sarcoma" EXACT [DOID:3357, NCIT:C8810] -synonym: "extraskeletal osteosarcoma" EXACT [NCIT:C8810] +synonym: "extraskeletal osteosarcoma" EXACT [DOID:3357, NCIT:C8810] synonym: "osteosarcoma, extraskeletal, malignant" EXACT [NCIT:C8810] synonym: "soft tissue osteosarcoma" EXACT [NCIT:C8810] xref: DOID:3357 {source="MONDO:equivalentTo"} @@ -46426,12 +46428,12 @@ id: MONDO:0002623 name: pediatric osteosarcoma def: "An osteosarcoma occurring in childhood." [NCIT:P378] synonym: "childhood osteogenic sarcoma" EXACT [NCIT:C6585] -synonym: "childhood osteosarcoma" EXACT [NCIT:C6585] +synonym: "childhood osteosarcoma" EXACT [DOID:3361, NCIT:C6585] synonym: "childhood osteosarcoma (disease)" EXACT [] -synonym: "osteosarcoma" BROAD [NCIT:C6585] +synonym: "osteosarcoma" BROAD [] synonym: "osteosarcoma (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "paediatric osteosarcoma (disease)" EXACT OMO:0003005 [] -synonym: "pediatric osteosarcoma" EXACT [NCIT:C6585] +synonym: "pediatric osteosarcoma" EXACT [DOID:3361, NCIT:C6585] synonym: "pediatric osteosarcoma (disease)" EXACT [MONDO:patterns/childhood] xref: DOID:3361 {source="MONDO:equivalentTo"} xref: MEDGEN:272464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -46449,7 +46451,7 @@ name: bone leiomyosarcoma def: "A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C7154] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "bone leiomyosarcoma" EXACT [NCIT:C7154] +synonym: "bone leiomyosarcoma" EXACT [DOID:3367, NCIT:C7154] synonym: "bone tissue leiomyosarcoma" EXACT [MONDO:patterns/location] synonym: "leiomyosarcoma of bone" EXACT [NCIT:C7154] synonym: "leiomyosarcoma of bone tissue" EXACT [MONDO:design_pattern] @@ -46471,24 +46473,24 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "bone Ewing sarcoma" EXACT [DOID:3368] -synonym: "bone Ewing's sarcoma" EXACT [DOID:3368, NCIT:C4835] +synonym: "bone Ewing's sarcoma" EXACT [NCIT:C4835] synonym: "bone localised Ewing sarcoma" EXACT OMO:0003005 [] synonym: "bone localised Ewing's sarcoma" EXACT OMO:0003005 [] synonym: "bone localized Ewing sarcoma" EXACT [DOID:3368] synonym: "bone localized Ewing's sarcoma" EXACT [DOID:3368] synonym: "bone tissue Ewing sarcoma" EXACT [MONDO:patterns/location] -synonym: "Ewing sarcoma of bone" EXACT [NCIT:C4835] -synonym: "Ewing's sarcoma of bone" EXACT [DOID:3368, NCIT:C4835] +synonym: "Ewing sarcoma of bone" EXACT [DOID:3368, NCIT:C4835] +synonym: "Ewing's sarcoma of bone" EXACT [NCIT:C4835] synonym: "Ewing's sarcoma, osseous" EXACT [NCIT:C4835] synonym: "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor" EXACT [DOID:3368] synonym: "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "localised skeletal Ewing's sarcoma" EXACT OMO:0003005 [] -synonym: "localized skeletal Ewing's sarcoma" EXACT [DOID:3368, NCIT:C6623] +synonym: "localized skeletal Ewing's sarcoma" EXACT [DOID:3368] synonym: "osseous Ewing's sarcoma" EXACT [NCIT:C4835] synonym: "osseous Ewing's tumor" EXACT [NCIT:C4835] synonym: "osseous Ewing's tumour" EXACT OMO:0003005 [] synonym: "skeletal Ewing's sarcoma" EXACT [NCIT:C4835] -synonym: "skeletal Ewing's tumor" EXACT [DOID:3368, NCIT:C4835] +synonym: "skeletal Ewing's tumor" EXACT [NCIT:C4835] synonym: "skeletal Ewing's tumour" EXACT OMO:0003005 [] xref: DOID:3368 {source="MONDO:equivalentTo"} xref: ICD9:170.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -46525,7 +46527,7 @@ synonym: "neoplasm of eleventh cranial nerve" EXACT [NCIT:C5829] synonym: "neoplasm of spinal accessory nerve" EXACT [NCIT:C5829] synonym: "neoplasm of the eleventh cranial nerve" EXACT [NCIT:C5829] synonym: "neoplasm of the spinal accessory nerve" EXACT [NCIT:C5829] -synonym: "spinal accessory nerve neoplasm" EXACT [NCIT:C5829] +synonym: "spinal accessory nerve neoplasm" EXACT [DOID:337, NCIT:C5829] synonym: "spinal accessory nerve neoplasms" EXACT [NCIT:C5829] synonym: "spinal accessory nerve tumor" EXACT [NCIT:C5829] synonym: "spinal accessory nerve tumors" EXACT [NCIT:C5829] @@ -46563,9 +46565,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chondroblastic osteogenic sarcoma" EXACT [NCIT:C4021] -synonym: "chondroblastic osteosarcoma" EXACT [NCIT:C4021] -synonym: "chondroblastic osteosarcoma (morphologic abnormality)" EXACT [DOID:3372] -synonym: "chondrosarcomatous osteogenic sarcoma" EXACT [DOID:3372, NCIT:C4021] +synonym: "chondroblastic osteosarcoma" EXACT [DOID:3372, NCIT:C4021] +synonym: "chondroblastic osteosarcoma (morphologic abnormality)" EXACT [] +synonym: "chondrosarcomatous osteogenic sarcoma" EXACT [DOID:3372] synonym: "CHOS" RELATED ABBREVIATION [ONCOTREE:CHOS] xref: DOID:3372 {source="MONDO:equivalentTo"} xref: ICDO:9181/3 {source="NCIT:C4021"} @@ -46584,7 +46586,7 @@ def: "A usually aggressive malignant bone-forming mesenchymal neoplasm arising f subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "bone surface (peripheral) osteosarcoma" EXACT [NCIT:C7134] -synonym: "peripheral osteosarcoma" EXACT [NCIT:C7134] +synonym: "peripheral osteosarcoma" EXACT [DOID:3374, NCIT:C7134] synonym: "surface osteosarcoma" EXACT [DOID:3374, NCIT:C7134] xref: DOID:3374 {source="MONDO:equivalentTo"} xref: MEDGEN:272379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -46602,11 +46604,11 @@ subset: ordo_disorder {source="Orphanet:668"} subset: orphanet_rare {source="Orphanet:668"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone osteosarcoma" EXACT [NCIT:C53707] -synonym: "osteosarcoma of bone" EXACT [NCIT:C53707] -synonym: "osteosarcoma, somatic" EXACT [OMIM:259500, OMIM:genemap2] -synonym: "osteosarcoma, somatic mutation" EXACT [OMIM:259500, OMIM:genemap2] -synonym: "primary osteosarcoma of bone" EXACT [DOID:3376, NCIT:C4834] +synonym: "bone osteosarcoma" EXACT [DOID:3376, NCIT:C53707] +synonym: "osteosarcoma of bone" EXACT [DOID:3376, NCIT:C53707] +synonym: "osteosarcoma, somatic" EXACT [] +synonym: "osteosarcoma, somatic mutation" EXACT [] +synonym: "primary osteosarcoma of bone" EXACT [DOID:3376] xref: DOID:3376 {source="MONDO:equivalentTo"} xref: GARD:7284 {source="MONDO:GARD"} xref: ICD10CM:C41.9 {source="Orphanet:668/ntbt", source="Orphanet:668"} @@ -46653,12 +46655,12 @@ def: "A high grade malignant bone-forming mesenchymal neoplasm producing osteoid subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "central osteosarcoma" EXACT [NCIT:C35870] -synonym: "conventional central osteosarcoma" EXACT [DOID:3378, NCIT:C35870] -synonym: "conventional osteosarcoma" EXACT [NCIT:C35870] -synonym: "intracortical osteogenic sarcoma" EXACT [MONDO:0004300, NCIT:C35870] +synonym: "conventional central osteosarcoma" EXACT [DOID:7602, NCIT:C35870] +synonym: "conventional osteosarcoma" EXACT [DOID:7602, NCIT:C35870] +synonym: "intracortical osteogenic sarcoma" EXACT [DOID:7602, MONDO:0004300, NCIT:C35870] synonym: "intracortical osteosarcoma" EXACT [DOID:7602, NCIT:C35870] -synonym: "intracortical osteosarcoma (morphologic abnormality)" EXACT [DOID:7602] -synonym: "medullary osteosarcoma" EXACT [NCIT:C35870] +synonym: "intracortical osteosarcoma (morphologic abnormality)" EXACT [] +synonym: "medullary osteosarcoma" EXACT [DOID:7602, NCIT:C35870] xref: DOID:3378 {source="MONDO:equivalentObsolete"} xref: DOID:7602 {source="MONDO:equivalentTo"} xref: ICDO:9186/3 {source="NCIT:C35870"} @@ -46679,7 +46681,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "metachronous osteosarcoma" EXACT [NCIT:C38157] -synonym: "metachronous osteosarcoma of the bone" EXACT [NCIT:C38157] +synonym: "metachronous osteosarcoma of the bone" EXACT [DOID:3379, NCIT:C38157] xref: DOID:3379 {source="MONDO:equivalentTo"} xref: MEDGEN:233695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C38157 {source="DOID:3379", source="MONDO:equivalentTo"} @@ -46700,7 +46702,7 @@ synonym: "cranial nerve tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cranial nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C2963] synonym: "neoplasm of the cranial nerve" EXACT [NCIT:C2963] synonym: "tumor of cranial nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C2963] -synonym: "tumor of the cranial nerve" EXACT [DOID:338, NCIT:C2963] +synonym: "tumor of the cranial nerve" EXACT [NCIT:C2963] synonym: "tumour of cranial nerve" EXACT OMO:0003005 [] synonym: "tumour of the cranial nerve" EXACT OMO:0003005 [] xref: DOID:338 {source="MONDO:equivalentObsolete"} @@ -46723,7 +46725,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "bone liposarcoma" EXACT [NCIT:C7598] synonym: "bone tissue liposarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "liposarcoma of bone" EXACT [NCIT:C7598] +synonym: "liposarcoma of bone" EXACT [DOID:3381, NCIT:C7598] synonym: "liposarcoma of bone tissue" EXACT [MONDO:design_pattern] synonym: "liposarcoma of the bone" EXACT [DOID:3381, NCIT:C7598] xref: DOID:3381 {source="MONDO:equivalentTo"} @@ -46743,10 +46745,10 @@ def: "An inflammatory process of the gingival tissues and/or periodontal membran subset: otar {source="MONDO:OTAR"} synonym: "disease of periodontium" EXACT [MONDO:patterns/location_top] synonym: "disease of supporting structures of teeth" EXACT [DOID:3388] -synonym: "disease of supporting structures of teeth, NOS" RELATED EXCLUDE [DOID:3388] +synonym: "disease of supporting structures of teeth, NOS" RELATED EXCLUDE [] synonym: "disease or disorder of periodontium" EXACT [] synonym: "disorder of periodontium" EXACT [MONDO:patterns/location_top] -synonym: "periodontal disease" EXACT [DOID:3388] +synonym: "periodontal disease" EXACT [DOID:3388, NCIT:C63743] synonym: "periodontal disorder" EXACT [NCIT:C63743] synonym: "periodontium disease" EXACT [MONDO:patterns/location] synonym: "periodontium disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -46817,7 +46819,7 @@ is_a: MONDO:0005833 {source="DOID:3405", source="MESH:D015614"} ! lymphatic syst id: MONDO:0002638 name: glossopharyngeal nerve neoplasm def: "A neoplasm involving a glossopharyngeal nerve." [MONDO:patterns/neoplasm] -synonym: "glossopharyngeal nerve neoplasm" EXACT [NCIT:C5828] +synonym: "glossopharyngeal nerve neoplasm" EXACT [DOID:3417, NCIT:C5828] synonym: "glossopharyngeal nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "glossopharyngeal nerve neoplasms" EXACT [NCIT:C5828] synonym: "glossopharyngeal nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5828] @@ -46827,7 +46829,7 @@ synonym: "glossopharyngeal nerve tumours" EXACT OMO:0003005 [] synonym: "IXth cranial nerve neoplasms" EXACT [NCIT:C5828] synonym: "IXth cranial nerve tumors" EXACT [NCIT:C5828] synonym: "IXth cranial nerve tumours" EXACT OMO:0003005 [] -synonym: "neoplasm of glossopharyngeal nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5828] +synonym: "neoplasm of glossopharyngeal nerve" EXACT [DOID:3417, MONDO:patterns/neoplasm, NCIT:C5828] synonym: "neoplasm of Ninth cranial nerve" EXACT [NCIT:C5828] synonym: "neoplasm of the glossopharyngeal nerve" EXACT [NCIT:C5828] synonym: "neoplasm of the Ninth cranial nerve" EXACT [NCIT:C5828] @@ -46863,7 +46865,7 @@ def: "A disease involving the glossopharyngeal nerve." [https://orcid.org/0000-0 synonym: "disease of glossopharyngeal nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of glossopharyngeal nerve" EXACT [] synonym: "disorder of glossopharyngeal nerve" EXACT [MONDO:patterns/location_top] -synonym: "glossopharyngeal nerve disease" EXACT [MONDO:patterns/location] +synonym: "glossopharyngeal nerve disease" EXACT [DOID:3418, MONDO:patterns/location] synonym: "glossopharyngeal nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "glossopharyngeal nerve disorder" EXACT [NCIT:C27211] synonym: "IX nerve disorder" EXACT [NCIT:C27211] @@ -46892,13 +46894,13 @@ synonym: "cranial nerve II neoplasms" EXACT [NCIT:C4801] synonym: "cranial nerve II tumor" EXACT [MONDO:patterns/neoplasm] synonym: "cranial nerve II tumour" EXACT OMO:0003005 [] synonym: "neoplasm of cranial nerve II" EXACT [MONDO:patterns/neoplasm] -synonym: "neoplasm of optic nerve" EXACT [NCIT:C4801] +synonym: "neoplasm of optic nerve" EXACT [DOID:3419, NCIT:C4801] synonym: "neoplasm of second cranial nerve" EXACT [NCIT:C4801] synonym: "neoplasm of the optic nerve" EXACT [NCIT:C4801] synonym: "neoplasm of the second cranial nerve" EXACT [NCIT:C4801] synonym: "neoplasms, optic nerve" EXACT [NCIT:C4801] synonym: "neoplasms, second cranial nerve" EXACT [NCIT:C4801] -synonym: "optic nerve neoplasm" EXACT [NCIT:C4801] +synonym: "optic nerve neoplasm" EXACT [DOID:3419, NCIT:C4801] synonym: "optic nerve neoplasms" EXACT [NCIT:C4801] synonym: "optic nerve tumor" EXACT [NCIT:C4801] synonym: "optic nerve tumour" EXACT OMO:0003005 [] @@ -46907,12 +46909,12 @@ synonym: "second cranial nerve neoplasms" EXACT [NCIT:C4801] synonym: "second cranial nerve tumor" EXACT [NCIT:C4801] synonym: "second cranial nerve tumour" EXACT OMO:0003005 [] synonym: "tumor of cranial nerve II" EXACT [MONDO:patterns/neoplasm] -synonym: "tumor of optic nerve" EXACT [DOID:3419, NCIT:C4801] +synonym: "tumor of optic nerve" EXACT [NCIT:C4801] synonym: "tumor of second cranial nerve" EXACT [DOID:3419, NCIT:C4801] synonym: "tumor of the optic nerve" EXACT [NCIT:C4801] synonym: "tumor of the second cranial nerve" EXACT [NCIT:C4801] synonym: "tumour of cranial nerve II" EXACT OMO:0003005 [] -synonym: "tumour of optic nerve" EXACT OMO:0003005 [] +synonym: "tumour of optic nerve" EXACT OMO:0003005 [DOID:3419] synonym: "tumour of second cranial nerve" EXACT OMO:0003005 [] synonym: "tumour of the optic nerve" EXACT OMO:0003005 [] synonym: "tumour of the second cranial nerve" EXACT OMO:0003005 [] @@ -46960,10 +46962,10 @@ synonym: "IVth cranial nerve tumours" EXACT OMO:0003005 [] synonym: "neoplasm of fourth cranial nerve" EXACT [NCIT:C5825] synonym: "neoplasm of the fourth cranial nerve" EXACT [NCIT:C5825] synonym: "neoplasm of the trochlear nerve" EXACT [NCIT:C5825] -synonym: "neoplasm of trochlear nerve" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of trochlear nerve" EXACT [DOID:3421, MONDO:patterns/neoplasm, NCIT:C5825] synonym: "trochlear nerve neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "trochlear nerve neoplasms" EXACT [NCIT:C5825] -synonym: "trochlear nerve tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "trochlear nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5825] synonym: "trochlear nerve tumors" EXACT [NCIT:C5825] synonym: "trochlear nerve tumour" EXACT OMO:0003005 [] synonym: "trochlear nerve tumours" EXACT OMO:0003005 [] @@ -47024,7 +47026,7 @@ id: MONDO:0002644 name: idiopathic granulomatous myositis subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "granulomatous myositis" RELATED [DOID:3428] +synonym: "granulomatous myositis" RELATED [] synonym: "idiopathic granulomatous myositis" EXACT [NCIT:C27575] xref: DOID:3428 {source="MONDO:equivalentTo"} xref: MEDGEN:235204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -47094,12 +47096,12 @@ relationship: disease_has_feature HP:0001686 ! Loss of voice id: MONDO:0002648 name: mammary Paget disease def: "A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur." [NCIT:C47857] -synonym: "breast Paget disease" EXACT [MONDO:patterns/location] +synonym: "breast Paget disease" EXACT [MONDO:patterns/location, NCIT:C47857] synonym: "mammary Paget disease" EXACT [DOID:3443] -synonym: "mammary Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C47857] +synonym: "mammary Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:3443, MONDO:LexicalVariant, NCIT:C47857] synonym: "Paget cell neoplasm" EXACT [DOID:3443] synonym: "Paget disease of the breast" EXACT [NCIT:C47857] -synonym: "Paget's disease" BROAD EXCLUDE [DOID:3443] +synonym: "Paget's disease" BROAD EXCLUDE [] synonym: "Paget's disease of breast" EXACT [NCIT:C47857] synonym: "Paget's disease of the breast" EXACT [DOID:3443, NCIT:C47857] xref: DOID:3443 {source="MONDO:equivalentTo"} @@ -47123,7 +47125,7 @@ synonym: "Paget's disease of the scrotum" EXACT [NCIT:C7728] synonym: "scrotal Paget's disease" EXACT [NCIT:C7728] synonym: "scrotum mammary Paget's disease" EXACT [MONDO:patterns/location] synonym: "scrotum Paget disease" EXACT [DOID:3444, MONDO:patterns/location] -synonym: "scrotum Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "scrotum Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:3444, MONDO:LexicalVariant] xref: DOID:3444 {source="MONDO:equivalentTo"} xref: MEDGEN:65959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7728 {source="DOID:3444", source="MONDO:equivalentTo"} @@ -47137,11 +47139,11 @@ intersection_of: disease_has_location UBERON:0001300 ! scrotum id: MONDO:0002650 name: scrotal carcinoma def: "A carcinoma that arises from epithelial cells of the scrotum." [https://orcid.org/0000-0002-6601-2165] -synonym: "cancer of scrotum" BROAD [NCIT:C6389] -synonym: "cancer of the scrotum" BROAD [NCIT:C6389] +synonym: "cancer of scrotum" BROAD [] +synonym: "cancer of the scrotum" BROAD [] synonym: "carcinoma of scrotum" EXACT [DOID:3445, MONDO:patterns/carcinoma, NCIT:C6389] synonym: "carcinoma of the scrotum" EXACT [NCIT:C6389] -synonym: "scrotal cancer" BROAD [NCIT:C6389] +synonym: "scrotal cancer" BROAD [] synonym: "scrotum carcinoma" EXACT [MONDO:patterns/location] xref: DOID:3445 {source="MONDO:equivalentTo"} xref: MEDGEN:235088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -47158,13 +47160,13 @@ name: anal Paget disease def: "A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO)." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "anal Paget disease" EXACT [DOID:3446] -synonym: "anal Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C5598] +synonym: "anal Paget disease" EXACT [DOID:3446, NCIT:C5598] +synonym: "anal Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:3446, MONDO:LexicalVariant, NCIT:C5598] synonym: "anus mammary Paget's disease" EXACT [MONDO:patterns/location] synonym: "anus Paget disease" EXACT [MONDO:patterns/location] synonym: "Paget disease of the anus" EXACT [NCIT:C5598] synonym: "Paget's disease of anus" EXACT [DOID:3446, NCIT:C5598] -synonym: "Paget's disease of the anus" EXACT [DOID:3446, NCIT:C5598] +synonym: "Paget's disease of the anus" EXACT [NCIT:C5598] xref: DOID:3446 {source="MONDO:equivalentTo"} xref: MEDGEN:233981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5598 {source="MONDO:equivalentTo", source="DOID:3446"} @@ -47181,9 +47183,9 @@ name: anus adenocarcinoma def: "An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis." [NCIT:C5600] subset: otar {source="MONDO:OTAR"} synonym: "adenocarcinoma of anus" EXACT [DOID:3447, NCIT:C5600] -synonym: "adenocarcinoma of the anus" EXACT [DOID:3447, NCIT:C5600] +synonym: "adenocarcinoma of the anus" EXACT [NCIT:C5600] synonym: "anal adenocarcinoma" EXACT [NCIT:C5600] -synonym: "anus adenocarcinoma" EXACT [MONDO:patterns/location] +synonym: "anus adenocarcinoma" EXACT [DOID:3447, MONDO:patterns/location] xref: DOID:3447 {source="MONDO:equivalentTo"} xref: MEDGEN:233976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5600 {source="DOID:3447", source="MONDO:equivalentTo"} @@ -47203,15 +47205,15 @@ subset: ordo_disorder {source="Orphanet:398053"} subset: orphanet_rare {source="Orphanet:398053"} subset: rare synonym: "adenocarcinoma of penis" EXACT [MONDO:0018351] -synonym: "adenocarcinoma of the penis" RELATED [Orphanet:398053] +synonym: "adenocarcinoma of the penis" RELATED [] synonym: "Paget disease of the penis" EXACT [NCIT:C27817] synonym: "Paget's disease of penis" EXACT [DOID:3448, NCIT:C27817] synonym: "Paget's disease of the penis" EXACT [NCIT:C27817] -synonym: "penile adenocarcinoma" EXACT [NCIT:C27817, Orphanet:398053] +synonym: "penile adenocarcinoma" EXACT [Orphanet:398053] synonym: "penis adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "penis mammary Paget's disease" EXACT [MONDO:patterns/location] synonym: "penis Paget disease" EXACT [DOID:3448, MONDO:patterns/location] -synonym: "penis Paget's disease" RELATED [DOID:3448] +synonym: "penis Paget's disease" RELATED [] xref: DOID:3448 {source="MONDO:equivalentTo"} xref: GARD:21638 {source="MONDO:GARD"} xref: ICD10CM:C60.0 {source="Orphanet:398053/ntbt", source="Orphanet:398053"} @@ -47240,7 +47242,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of uterus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of uterus" EXACT [] synonym: "disorder of uterus" EXACT [MONDO:patterns/location_top] -synonym: "uterine disease" EXACT [NCIT:C26907] +synonym: "uterine disease" EXACT [DOID:345, NCIT:C26907] synonym: "uterine disorder" EXACT [NCIT:C26907] synonym: "uterus disease" EXACT [MONDO:patterns/location] synonym: "uterus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -47266,9 +47268,9 @@ id: MONDO:0002655 name: cutaneous Paget disease def: "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli." [DOID:3450] synonym: "cutaneous Paget disease" EXACT [DOID:3450] -synonym: "cutaneous Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "cutaneous Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:3450, MONDO:LexicalVariant] synonym: "extramammary Paget's disease" EXACT [DOID:3450] -synonym: "Paget's disease of skin" RELATED EXCLUDE [DOID:3450] +synonym: "Paget's disease of skin" RELATED EXCLUDE [] synonym: "zone of skin Paget disease" EXACT [MONDO:patterns/location] xref: DOID:3450 {source="MONDO:equivalentTo"} xref: MESH:D010145 {source="MONDO:relatedTo", source="DOID:3450"} @@ -47288,9 +47290,9 @@ synonym: "carcinoma of zone of skin" EXACT [MONDO:patterns/carcinoma] synonym: "non-melanoma cancer of skin" EXACT [NCIT:C4914] synonym: "non-melanoma cancer of the skin" EXACT [NCIT:C4914] synonym: "non-melanoma skin cancer" EXACT [NCIT:C4914] -synonym: "nonmelanoma skin cancer" EXACT [NCIT:C4914] +synonym: "nonmelanoma skin cancer" EXACT [] synonym: "skin cancer, non-melanoma" EXACT [NCIT:C4914] -synonym: "skin carcinoma" EXACT [NCIT:C4914] +synonym: "skin carcinoma" EXACT [DOID:3451, NCIT:C4914] synonym: "zone of skin carcinoma" EXACT [MONDO:patterns/location] xref: DOID:3451 {source="MONDO:equivalentTo"} xref: EFO:0009259 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -47308,7 +47310,7 @@ id: MONDO:0002657 name: breast disorder def: "A disease involving the breast." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "breast disease" EXACT [MONDO:patterns/location, NCIT:C26709] +synonym: "breast disease" EXACT [DOID:3463, MONDO:patterns/location, NCIT:C26709] synonym: "breast disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "breast diseases" EXACT [NCIT:C26709] synonym: "breast disorder" EXACT [NCIT:C26709] @@ -47341,17 +47343,17 @@ id: MONDO:0002658 name: iris cancer def: "A malignant neoplasm involving the iris." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of iris" EXACT [MONDO:patterns/cancer] -synonym: "iris cancer" EXACT [MONDO:patterns/location] -synonym: "malignant iris neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "iris cancer" EXACT [DOID:3478, MONDO:patterns/location] +synonym: "malignant iris neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4554] synonym: "malignant iris tumor" EXACT [NCIT:C4554] synonym: "malignant iris tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of iris" EXACT [MONDO:patterns/cancer, NCIT:C4554] synonym: "malignant neoplasm of the iris" EXACT [DOID:3478, NCIT:C4554] -synonym: "malignant tumor of iris" EXACT [DOID:3478] +synonym: "malignant tumor of iris" EXACT [DOID:3478, NCIT:C4554] synonym: "malignant tumor of the iris" EXACT [NCIT:C4554] synonym: "malignant tumour of iris" EXACT OMO:0003005 [] synonym: "malignant tumour of the iris" EXACT OMO:0003005 [] -synonym: "tumor of the iris" BROAD [DOID:3478, NCIT:C3142] +synonym: "tumor of the iris" BROAD [] synonym: "tumour of the iris" BROAD OMO:0003005 [] xref: DOID:3478 {source="MONDO:equivalentTo"} xref: MEDGEN:91103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -47379,14 +47381,14 @@ synonym: "malignant tumor of the uvea" EXACT [NCIT:C6105] synonym: "malignant tumor of uvea" EXACT [NCIT:C6105] synonym: "malignant tumour of the uvea" EXACT OMO:0003005 [] synonym: "malignant tumour of uvea" EXACT OMO:0003005 [] -synonym: "malignant uvea neoplasm" EXACT [DOID:3479, MONDO:patterns/cancer, NCIT:C6105] +synonym: "malignant uvea neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C6105] synonym: "malignant uvea tumor" EXACT [NCIT:C6105] synonym: "malignant uvea tumour" EXACT OMO:0003005 [] synonym: "malignant uveal neoplasm" EXACT [NCIT:C6105] synonym: "malignant uveal tumor" EXACT [DOID:3479, NCIT:C6105] synonym: "malignant uveal tumour" EXACT OMO:0003005 [] synonym: "uvea cancer" EXACT [MONDO:patterns/location] -synonym: "uveal tumor" BROAD [DOID:3479, NCIT:C3436] +synonym: "uveal tumor" BROAD [] synonym: "uveal tumour" BROAD OMO:0003005 [] xref: DOID:3479 {source="MONDO:equivalentTo"} xref: EFO:1001230 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -47405,7 +47407,7 @@ intersection_of: disease_has_location UBERON:0001768 ! uvea id: MONDO:0002660 name: blepharochalasis def: "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins." [DOID:348, Wikipedia:Blepharochalasis] -synonym: "blepharochalasis" EXACT [MONDO:ambiguous] +synonym: "blepharochalasis" EXACT [DOID:348, ICD10CM:H02.3, icd11.foundation:583527617, MONDO:ambiguous] synonym: "blepharochalasis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:348 {source="MONDO:equivalentTo"} xref: HP:0010749 {source="MONDO:otherHierarchy"} @@ -47431,7 +47433,7 @@ synonym: "disorder of uvea" EXACT [MONDO:patterns/location_top] synonym: "disorder of uveal tract" RELATED [MONDO:patterns/location_top] synonym: "uvea disease" EXACT [MONDO:patterns/location] synonym: "uvea disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "uveal disease" EXACT [NCIT:C26908] +synonym: "uveal disease" EXACT [DOID:3480, NCIT:C26908] synonym: "uveal diseases" RELATED [GARD:0008192] synonym: "uveal disorder" EXACT [NCIT:C26908] synonym: "uveal tract disease" EXACT [MONDO:patterns/location] @@ -47464,7 +47466,7 @@ def: "An adenocarcinoma that arises from the extrahepatic bile ducts. It is char subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "bile duct signet Ring cell carcinoma" EXACT [DOID:3494, NCIT:C5776] -synonym: "bile duct signet ring cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "bile duct signet ring cell carcinoma" EXACT [DOID:3494, MONDO:patterns/location, NCIT:C5776] synonym: "extrahepatic bile duct signet Ring cell carcinoma" EXACT [NCIT:C5776] synonym: "signet Ring cell bile duct carcinoma" EXACT [NCIT:C5776] synonym: "signet Ring cell carcinoma of bile duct" EXACT [NCIT:C5776] @@ -47487,8 +47489,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenocarcinoma of extrahepatic bile duct" EXACT [DOID:3495, NCIT:C7975] -synonym: "adenocarcinoma of the extrahepatic bile duct" EXACT [DOID:3495, NCIT:C7975] -synonym: "extrahepatic bile duct adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C7975] +synonym: "adenocarcinoma of the extrahepatic bile duct" EXACT [NCIT:C7975] +synonym: "extrahepatic bile duct adenocarcinoma" EXACT [DOID:3495, MONDO:patterns/location, NCIT:C7975] xref: DOID:3495 {source="MONDO:equivalentTo"} xref: MEDGEN:124642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7975 {source="DOID:3495", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -47503,8 +47505,8 @@ id: MONDO:0002666 name: pancreatic signet ring cell adenocarcinoma def: "A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern." [NCIT:C5720] synonym: "pancreas signet ring cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "pancreatic signet Ring cell carcinoma" EXACT [NCIT:C5720] -synonym: "pancreatic signet ring cell carcinoma" EXACT [DOID:3497] +synonym: "pancreatic signet Ring cell carcinoma" EXACT [DOID:3497, NCIT:C5720] +synonym: "pancreatic signet ring cell carcinoma" EXACT [DOID:3497, NCIT:C5720] synonym: "signet Ring cell carcinoma of pancreas" EXACT [DOID:3497, NCIT:C5720] synonym: "signet Ring cell carcinoma of the pancreas" EXACT [NCIT:C5720] xref: DOID:3497 {source="MONDO:equivalentTo"} @@ -47548,8 +47550,8 @@ def: "An adenocarcinoma arising from the ampulla of Vater. Morphologically, it i subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ampulla of Vater signet Ring cell carcinoma" EXACT [NCIT:C6656] -synonym: "ampullary signet Ring cell carcinoma" EXACT [NCIT:C6656] -synonym: "ampullary signet ring cell carcinoma" EXACT [DOID:3501] +synonym: "ampullary signet Ring cell carcinoma" EXACT [DOID:3501, NCIT:C6656] +synonym: "ampullary signet ring cell carcinoma" EXACT [DOID:3501, NCIT:C6656] xref: DOID:3501 {source="MONDO:equivalentTo"} xref: MEDGEN:231057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6656 {source="MONDO:equivalentTo", source="DOID:3501"} @@ -47566,7 +47568,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenocarcinoma of ampulla of Vater" EXACT [NCIT:C6650] synonym: "adenocarcinoma of ampulla of vater" RELATED [DOID:3502] -synonym: "ampulla of Vater adenocarcinoma" EXACT [NCIT:C6650] +synonym: "ampulla of Vater adenocarcinoma" EXACT [DOID:3502, NCIT:C6650] synonym: "ampullary adenocarcinoma" EXACT [DOID:3502, NCIT:C6650] synonym: "hepatopancreatic ampulla adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "invasive adenocarcinoma of the ampullary region" EXACT [NCIT:C6650] @@ -47586,8 +47588,8 @@ id: MONDO:0002671 name: signet ring cell breast carcinoma def: "An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance." [NCIT:C5175] synonym: "breast carcinoma with signet ring" RELATED [ONCOTREE:BRSRCC] -synonym: "breast signet ring cell adenocarcinoma" RELATED [DOID:3503] -synonym: "breast signet ring cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "breast signet ring cell adenocarcinoma" RELATED [] +synonym: "breast signet ring cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C5175] synonym: "mammary signet Ring cell carcinoma" EXACT [DOID:3503, NCIT:C5175] synonym: "primary mammary signet Ring cell carcinoma" EXACT [NCIT:C5175] synonym: "primary signet Ring cell breast carcinoma" EXACT [NCIT:C5175] @@ -47618,13 +47620,13 @@ intersection_of: disease_has_location UBERON:0000310 ! breast id: MONDO:0002672 name: acinar prostate adenocarcinoma, signet ring variant def: "A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells." [NCIT:C5535] -synonym: "acinar prostate adenocarcinoma, signet Ring variant" EXACT [NCIT:C5535] +synonym: "acinar prostate adenocarcinoma, signet Ring variant" EXACT [] synonym: "prostate gland signet ring cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "prostate signet ring cell adenocarcinoma" RELATED [DOID:3504] -synonym: "prostate signet Ring cell carcinoma" EXACT [NCIT:C5535] +synonym: "prostate signet ring cell adenocarcinoma" RELATED [] +synonym: "prostate signet Ring cell carcinoma" EXACT [DOID:3504] synonym: "prostate signet ring cell carcinoma" EXACT [DOID:3504] -synonym: "signet Ring cell carcinoma of prostate" EXACT [DOID:3504, NCIT:C5535] -synonym: "signet Ring cell carcinoma of the prostate" EXACT [NCIT:C5535] +synonym: "signet Ring cell carcinoma of prostate" EXACT [DOID:3504] +synonym: "signet Ring cell carcinoma of the prostate" EXACT [] xref: DOID:3504 {source="MONDO:equivalentTo"} xref: MEDGEN:1835069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5535 {source="MONDO:equivalentTo", source="DOID:3504"} @@ -47657,7 +47659,7 @@ def: "A malignant tumor that arises from small cutaneous nerves, is locally aggr subset: gard_rare {source="GARD:8211", source="MONDO:GARD"} subset: rare synonym: "neurosarcoma" EXACT [DOID:3512] -synonym: "neurosarcoma [obs]" EXACT [DOID:3512] +synonym: "neurosarcoma [obs]" EXACT [] xref: DOID:3512 {source="MONDO:equivalentTo"} xref: GARD:8211 {source="MONDO:GARD"} xref: MEDGEN:104927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -47673,9 +47675,9 @@ name: adult fibrosarcoma def: "A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones." [NCIT:C7809] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult fibrosarcoma" EXACT [NCIT:C7809] +synonym: "adult fibrosarcoma" EXACT [DOID:3516, NCIT:C7809] synonym: "adult fibrosarcoma (disease)" EXACT [] -synonym: "fibrosarcoma" BROAD [NCIT:C7809] +synonym: "fibrosarcoma" BROAD [] synonym: "fibrosarcoma (disease) of adults" EXACT [MONDO:patterns/adult] xref: DOID:3516 {source="MONDO:equivalentTo"} xref: MEDGEN:75840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -47696,7 +47698,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "classic fibrosarcoma" EXACT [NCIT:C9429] synonym: "classical fibrosarcoma" EXACT [NCIT:C9429] -synonym: "conventional fibrosarcoma" EXACT [NCIT:C9429] +synonym: "conventional fibrosarcoma" EXACT [DOID:3517, NCIT:C9429] xref: DOID:3517 {source="MONDO:equivalentTo"} xref: MEDGEN:232393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9429 {source="MONDO:equivalentTo", source="DOID:3517", source="MONDO:exact-label-match"} @@ -47710,9 +47712,9 @@ def: "A malignant neoplasm arising from the deep soft tissues in children. It is subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "childhood fibrosarcoma" EXACT [NCIT:C8088] -synonym: "fibrosarcoma" BROAD [NCIT:C8088] -synonym: "pediatric fibrosarcoma" EXACT [NCIT:C8088] +synonym: "childhood fibrosarcoma" EXACT [DOID:3520, NCIT:C8088] +synonym: "fibrosarcoma" BROAD [] +synonym: "pediatric fibrosarcoma" EXACT [DOID:3520, NCIT:C8088] xref: DOID:3520 {source="MONDO:equivalentTo"} xref: MEDGEN:124685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200060 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -47730,12 +47732,12 @@ def: "An ischemic condition of the brain, producing a persistent focal neurologi subset: otar {source="MONDO:OTAR"} synonym: "brain infarction of telencephalon" EXACT [MONDO:design_pattern] synonym: "cerebral infarct" EXACT [DOID:3526] -synonym: "cerebral infarction" EXACT [DOID:3526] -synonym: "cerebral infarction NOS" RELATED EXCLUDE [DOID:3526] +synonym: "cerebral infarction" EXACT [DOID:3526, NCIT:C50486] +synonym: "cerebral infarction NOS" RELATED EXCLUDE [] synonym: "cerebral ischemia" EXACT [NCIT:C50486] -synonym: "cerebral, infarction" EXACT [NCIT:C50486] +synonym: "cerebral, infarction" EXACT [] synonym: "CVA - cerebral infarction" EXACT [DOID:3526] -synonym: "infarction, cerebral" EXACT [NCIT:C50486] +synonym: "infarction, cerebral" EXACT [] synonym: "telencephalon brain infarction" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:3526 {source="MONDO:equivalentTo"} xref: ICD10CM:I63 {source="DOID:3526"} @@ -47779,8 +47781,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cancer of choroid plexus" EXACT [MONDO:patterns/cancer] -synonym: "choroid plexus cancer" EXACT [MONDO:patterns/location] -synonym: "choroid plexus neoplasm" BROAD [DOID:3540] +synonym: "choroid plexus cancer" EXACT [DOID:3540, MONDO:patterns/location] +synonym: "choroid plexus neoplasm" BROAD [] synonym: "malignant choroid plexus neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4533] synonym: "malignant choroid plexus neoplasms" EXACT [NCIT:C4533] synonym: "malignant choroid plexus tumor" EXACT [NCIT:C4533] @@ -47793,8 +47795,8 @@ synonym: "malignant tumor of choroid plexus" EXACT [NCIT:C4533] synonym: "malignant tumor of the choroid plexus" EXACT [NCIT:C4533] synonym: "malignant tumour of choroid plexus" EXACT OMO:0003005 [] synonym: "malignant tumour of the choroid plexus" EXACT OMO:0003005 [] -synonym: "tumor of choroid plexus" BROAD [DOID:3540] -synonym: "tumor of the choroid plexus" BROAD EXCLUDE [DOID:3540] +synonym: "tumor of choroid plexus" BROAD [] +synonym: "tumor of the choroid plexus" BROAD EXCLUDE [] synonym: "tumour of choroid plexus" BROAD OMO:0003005 [] synonym: "tumour of the choroid plexus" BROAD OMO:0003005 [] xref: DOID:3540 {source="MONDO:equivalentTo"} @@ -47856,11 +47858,11 @@ name: adult choroid plexus neoplasm def: "A choroid plexus neoplasm that occurs in an adult." [MONDO:design_pattern] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult choroid plexus cancer" RELATED [DOID:3542] +synonym: "adult choroid plexus cancer" RELATED [] synonym: "adult choroid plexus neoplasm" EXACT [NCIT:C8568] -synonym: "adult choroid plexus tumor" EXACT [DOID:3542, NCIT:C8568] +synonym: "adult choroid plexus tumor" EXACT [NCIT:C8568] synonym: "adult choroid plexus tumour" EXACT OMO:0003005 [] -synonym: "choroid plexus neoplasm" BROAD [NCIT:C8568] +synonym: "choroid plexus neoplasm" BROAD [] synonym: "choroid plexus neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "neoplasm of adult choroid plexus" EXACT [NCIT:C8568] synonym: "neoplasm of the adult choroid plexus" EXACT [DOID:3542, NCIT:C8568] @@ -47888,10 +47890,10 @@ subset: orphanet_rare {source="Orphanet:251902"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACPP" RELATED ABBREVIATION [ONCOTREE:ACPP] -synonym: "atypical choroid plexus papilloma" EXACT [DOID:3544, NCIT:C53686, NCIT:C8382, Orphanet:251902] -synonym: "atypical choroid plexus papilloma (morphologic abnormality)" EXACT [DOID:3544] +synonym: "atypical choroid plexus papilloma" EXACT [DOID:3544, icd11.foundation:1640044333, NCIT:C53686, Orphanet:251902] +synonym: "atypical choroid plexus papilloma (morphologic abnormality)" EXACT [] synonym: "atypical CPP" EXACT [Orphanet:251902] -synonym: "atypical papilloma of choroid plexus" EXACT [MONDO:0016720] +synonym: "atypical papilloma of choroid plexus" EXACT [icd11.foundation:1640044333, MONDO:0016720, Orphanet:251902] xref: DOID:3544 {source="MONDO:equivalentTo"} xref: GARD:20723 {source="MONDO:GARD"} xref: ICD10CM:C71.5 {source="Orphanet:251902/ntbt", source="Orphanet:251902"} @@ -47911,9 +47913,9 @@ name: childhood choroid plexus carcinoma def: "A choroid plexus carcinoma that occurs during childhood." [NCIT:C124292] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood choroid plexus cancer" RELATED [DOID:3545] +synonym: "childhood choroid plexus cancer" RELATED [] synonym: "childhood choroid plexus carcinoma" EXACT [NCIT:C124292] -synonym: "childhood choroid plexus neoplasm" BROAD [DOID:3545] +synonym: "childhood choroid plexus neoplasm" BROAD [] synonym: "choroid plexus carcinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric choroid plexus carcinoma" EXACT OMO:0003005 [] synonym: "pediatric choroid plexus carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] @@ -47946,7 +47948,7 @@ subset: orphanet_rare {source="Orphanet:622099"} subset: rare synonym: "Arteriomesenteric duodenal compression syndrome" RELATED [GARD:0007712] synonym: "Cast syndrome" RELATED [GARD:0007712] -synonym: "superior mesenteric artery syndrome" EXACT [DOID:3557] +synonym: "superior mesenteric artery syndrome" EXACT [DOID:3557, NCIT:C85175, Orphanet:622099] synonym: "superior mesenteric artery syndromic disease" EXACT [MONDO:patterns/location] synonym: "syndromic disease of superior mesenteric artery" EXACT [MONDO:design_pattern] synonym: "vascular compression of the duodenum" RELATED [GARD:0007712] @@ -48003,7 +48005,7 @@ synonym: "ca liver - primary" EXACT [DOID:3571] synonym: "cancer of liver" EXACT [MONDO:patterns/cancer] synonym: "hepatic cancer" EXACT [DOID:3571] synonym: "hepatic neoplasm" EXACT [DOID:3571] -synonym: "liver cancer" EXACT [MONDO:patterns/location] +synonym: "liver cancer" EXACT [DOID:3571, MONDO:patterns/location] synonym: "malignant hepato-biliary neoplasm" EXACT [DOID:3571] synonym: "malignant liver neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of liver" EXACT [DOID:3571, MONDO:patterns/cancer] @@ -48011,7 +48013,7 @@ synonym: "malignant neoplasm of liver, not specified as primary or secondary" EX synonym: "malignant neoplasm of liver, primary" EXACT [DOID:3571, ICD9CM:155.0] synonym: "malignant tumor of liver" EXACT [DOID:3571] synonym: "malignant tumour of liver" EXACT OMO:0003005 [] -synonym: "neoplasm of liver" RELATED EXCLUDE [DOID:3571] +synonym: "neoplasm of liver" RELATED EXCLUDE [] synonym: "non-resectable primary hepatic malignant neoplasm" EXACT [DOID:3571] synonym: "primary cancer of liver" RELATED [GARD:0006608] synonym: "primary liver cancer" EXACT [DOID:3571] @@ -48019,7 +48021,7 @@ synonym: "primary malignant liver neoplasm" EXACT [NCIT:C34803] synonym: "primary malignant neoplasm of liver" EXACT [DOID:3571, NCIT:C34803] synonym: "primary tumor of the liver" RELATED [GARD:0006608] synonym: "primary tumour of the liver" RELATED OMO:0003005 [] -synonym: "Resectable malignant neoplasm of liver" EXACT [DOID:3571, NCIT:C7692] +synonym: "Resectable malignant neoplasm of liver" EXACT [DOID:3571] synonym: "resectable malignant neoplasm of the liver" EXACT [DOID:3571] xref: DOID:3571 {source="MONDO:equivalentTo"} xref: ICD10CM:C22.0 {source="DOID:3571"} @@ -48102,9 +48104,9 @@ is_a: MONDO:0002692 {source="DOID:3576", source="MESH:D020225"} ! intracranial s id: MONDO:0002696 name: Sertoli cell tumor def: "A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course." [NCIT:C39976] -synonym: "Sertoli cell tumor" EXACT [NCIT:C39976] +synonym: "Sertoli cell tumor" EXACT [DOID:3577, NCIT:C39976] synonym: "tubular androblastoma" EXACT [DOID:3577] -synonym: "tubular androblastoma NOS (morphologic abnormality)" EXACT [DOID:3577] +synonym: "tubular androblastoma NOS (morphologic abnormality)" EXACT [] xref: DOID:3577 {source="MONDO:equivalentTo"} xref: ICDO:8630/1 {source="NCIT:C39976"} xref: ICDO:8640/1 {source="NCIT:C39976"} @@ -48126,10 +48128,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:206484"} subset: orphanet_rare {source="Orphanet:206484"} subset: rare -synonym: "GBY" BROAD ABBREVIATION [OMIM:424500] -synonym: "gonadoblastoma" BROAD [OMIM:424500] +synonym: "GBY" BROAD ABBREVIATION [] +synonym: "gonadoblastoma" BROAD [] synonym: "gonadoblastoma of ovary" EXACT [MONDO:design_pattern] -synonym: "ovarian gonadoblastoma" EXACT [MONDO:ambiguous, NCIT:C39985] +synonym: "ovarian gonadoblastoma" EXACT [DOID:3578, icd11.foundation:1564602847, MONDO:ambiguous, NCIT:C39985] synonym: "ovarian gonadoblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ovary gonadoblastoma" EXACT [MONDO:patterns/location] xref: DOID:3578 {source="MONDO:equivalentTo"} @@ -48154,7 +48156,7 @@ def: "A testicular mixed germ cell-sex cord-stromal tumor. It is usually associa subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "gonadoblastoma of testis" EXACT [MONDO:design_pattern] -synonym: "testicular gonadoblastoma" EXACT [MONDO:ambiguous, NCIT:C39911] +synonym: "testicular gonadoblastoma" EXACT [DOID:3579, MONDO:ambiguous, NCIT:C39911] synonym: "testicular gonadoblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "testis gonadoblastoma" EXACT [MONDO:patterns/location] xref: DOID:3579 {source="MONDO:equivalentTo"} @@ -48187,7 +48189,7 @@ def: "An invasive cystic adenocarcinoma arising from the ovary. It is characteri subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mucinous cystadenocarcinoma of ovary" EXACT [NCIT:C4026] +synonym: "mucinous cystadenocarcinoma of ovary" EXACT [DOID:3604, NCIT:C4026] synonym: "mucinous cystadenocarcinoma of the ovary" EXACT [NCIT:C4026] synonym: "ovarian mucinous cystadenocarcinoma" EXACT [DOID:3604, NCIT:C4026] synonym: "ovary mucinous cystadenocarcinoma" EXACT [MONDO:patterns/location] @@ -48210,9 +48212,9 @@ def: "An adenocarcinoma that arises from the ovary and is characterized by the p subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cystadenocarcinoma of ovary" EXACT [NCIT:C5228] +synonym: "cystadenocarcinoma of ovary" EXACT [DOID:3605, NCIT:C5228] synonym: "cystadenocarcinoma of the ovary" EXACT [DOID:3605, NCIT:C5228] -synonym: "ovarian cystadenocarcinoma" EXACT [NCIT:C5228] +synonym: "ovarian cystadenocarcinoma" EXACT [DOID:3605, NCIT:C5228] synonym: "ovary cystadenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3605 {source="MONDO:equivalentTo"} xref: EFO:1001962 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -48236,7 +48238,7 @@ synonym: "appendiceal colloidal cystadenocarcinoma" EXACT [NCIT:C5511] synonym: "appendiceal mucinous cystadenocarcinoma" EXACT [NCIT:C5511] synonym: "appendix colloid cystadenocarcinoma" EXACT [NCIT:C5511] synonym: "appendix colloidal cystadenocarcinoma" EXACT [NCIT:C5511] -synonym: "appendix mucinous cystadenocarcinoma" EXACT [NCIT:C5511] +synonym: "appendix mucinous cystadenocarcinoma" EXACT [DOID:3607, NCIT:C5511] synonym: "colloid cystadenocarcinoma of appendix" EXACT [NCIT:C5511] synonym: "colloid cystadenocarcinoma of the appendix" EXACT [NCIT:C5511] synonym: "colloidal cystadenocarcinoma of appendix" EXACT [NCIT:C5511] @@ -48264,7 +48266,7 @@ replaced_by: MONDO:0006087 id: MONDO:0002705 name: breast mucinous cystadenocarcinoma def: "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified." [NCIT:C40354] -synonym: "breast mucinous cystadenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40354] +synonym: "breast mucinous cystadenocarcinoma" EXACT [DOID:3609, MONDO:patterns/location, NCIT:C40354] xref: DOID:3609 {source="MONDO:equivalentTo"} xref: MEDGEN:267769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40354 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3609"} @@ -48298,7 +48300,7 @@ id: MONDO:0002707 name: breast mucinous carcinoma def: "An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis." [NCIT:P378] synonym: "breast invasive mixed mucinous carcinoma" RELATED [ONCOTREE:IMMC] -synonym: "breast mucinous carcinoma" EXACT [NCIT:C9131] +synonym: "breast mucinous carcinoma" EXACT [DOID:3610, NCIT:C9131] synonym: "colloid breast carcinoma" EXACT [NCIT:C9131] synonym: "colloid carcinoma of breast" EXACT [NCIT:C9131] synonym: "colloid carcinoma of the breast" EXACT [NCIT:C9131] @@ -48308,7 +48310,7 @@ synonym: "invasive colloid breast carcinoma" EXACT [NCIT:C9131] synonym: "invasive mucinous breast carcinoma" EXACT [DOID:3610, NCIT:C9131] synonym: "mucinous breast cancer" EXACT [NCIT:C9131] synonym: "mucinous breast carcinoma" EXACT [NCIT:C9131] -synonym: "mucinous carcinoma of breast" EXACT [DOID:3610, NCIT:C9131] +synonym: "mucinous carcinoma of breast" EXACT [NCIT:C9131] synonym: "mucinous carcinoma of the breast" EXACT [NCIT:C9131] xref: DOID:3610 {source="MONDO:equivalentTo"} xref: MEDGEN:235337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -48355,8 +48357,8 @@ id: MONDO:0002710 name: infiltrating angiolipoma def: "An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue." [NCIT:P378] synonym: "angiolipoma, infiltrating" EXACT [DOID:3615] -synonym: "angiolipoma, infiltrating (morphologic abnormality)" EXACT [DOID:3615] -synonym: "infiltrating angiolipoma" EXACT [DOID:3615] +synonym: "angiolipoma, infiltrating (morphologic abnormality)" EXACT [] +synonym: "infiltrating angiolipoma" EXACT [DOID:3615, NCIT:C7449] xref: DOID:3615 {source="MONDO:equivalentTo"} xref: MEDGEN:227009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7449 {source="MONDO:equivalentTo", source="DOID:3615"} @@ -48402,7 +48404,7 @@ synonym: "epidural neoplasm" EXACT [NCIT:C3019] synonym: "epidural space neoplasm" EXACT [] synonym: "epidural space tumor" EXACT [MONDO:patterns/neoplasm] synonym: "epidural space tumour" EXACT OMO:0003005 [] -synonym: "epidural spinal canal neoplasm" EXACT [NCIT:C3019] +synonym: "epidural spinal canal neoplasm" EXACT [DOID:3618, NCIT:C3019] synonym: "epidural spinal canal tumor" EXACT [NCIT:C3019] synonym: "epidural spinal canal tumors" EXACT [NCIT:C3019] synonym: "epidural spinal canal tumour" EXACT OMO:0003005 [] @@ -48455,15 +48457,15 @@ synonym: "cancer of central nervous system" EXACT [MONDO:patterns/cancer, NCIT:C synonym: "cancer of CNS" EXACT [NCIT:C4627] synonym: "cancer of the central nervous system" EXACT [NCIT:C4627] synonym: "cancer of the CNS" EXACT [NCIT:C4627] -synonym: "central nervous system cancer" EXACT [MONDO:patterns/location, NCIT:C4627] +synonym: "central nervous system cancer" EXACT [DOID:3620, MONDO:patterns/location, NCIT:C4627] synonym: "central nervous system neoplasms, malignant" EXACT [NCIT:C4627] -synonym: "central nervous system tumor" BROAD [DOID:3620] +synonym: "central nervous system tumor" BROAD [] synonym: "central nervous system tumors" EXACT [DOID:3620] synonym: "central nervous system tumour" BROAD OMO:0003005 [] synonym: "central nervous system tumours" EXACT OMO:0003005 [] synonym: "CNS cancer" EXACT [NCIT:C4627] synonym: "CNS malignant neoplasms" EXACT [NCIT:C4627] -synonym: "CNS neoplasm" BROAD [DOID:3620] +synonym: "CNS neoplasm" BROAD [] synonym: "CNS neoplasms, malignant" EXACT [NCIT:C4627] synonym: "malignant central nervous system neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4627] synonym: "malignant central nervous system tumor" EXACT [NCIT:C4627] @@ -48472,8 +48474,8 @@ synonym: "malignant CNS neoplasm" EXACT [NCIT:C4627] synonym: "malignant CNS neoplasms" EXACT [NCIT:C4627] synonym: "malignant CNS tumor" EXACT [NCIT:C4627] synonym: "malignant CNS tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of central nervous system" EXACT [MONDO:patterns/cancer, NCIT:C4627] -synonym: "malignant neoplasm of central nervous system, NOS" RELATED EXCLUDE [DOID:3620] +synonym: "malignant neoplasm of central nervous system" EXACT [DOID:3620, MONDO:patterns/cancer, NCIT:C4627] +synonym: "malignant neoplasm of central nervous system, NOS" RELATED EXCLUDE [] synonym: "malignant neoplasm of CNS" EXACT [NCIT:C4627] synonym: "malignant neoplasm of the central nervous system" EXACT [NCIT:C4627] synonym: "malignant neoplasm of the CNS" EXACT [NCIT:C4627] @@ -48485,7 +48487,7 @@ synonym: "malignant tumour of central nervous system" EXACT OMO:0003005 [] synonym: "malignant tumour of CNS" EXACT OMO:0003005 [] synonym: "malignant tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "malignant tumour of the CNS" EXACT OMO:0003005 [] -synonym: "neoplasm of central nervous system" RELATED EXCLUDE [DOID:3620] +synonym: "neoplasm of central nervous system" RELATED EXCLUDE [] xref: DOID:3620 {source="MONDO:equivalentTo"} xref: EFO:0000326 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C69-C72 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -48524,15 +48526,15 @@ synonym: "malignant uterine neoplasm" EXACT [NCIT:C3552] synonym: "malignant uterine tumor" EXACT [DOID:363, NCIT:C3552] synonym: "malignant uterine tumour" EXACT OMO:0003005 [] synonym: "malignant uterus neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "neoplasm of uterus" BROAD [DOID:363] -synonym: "tumor of uterus" BROAD [DOID:363] +synonym: "neoplasm of uterus" BROAD [] +synonym: "tumor of uterus" BROAD [] synonym: "tumour of uterus" BROAD OMO:0003005 [] -synonym: "uterine cancer" EXACT [NCIT:C3552] -synonym: "uterine cancer, NOS" RELATED EXCLUDE [NCIT:C3552] -synonym: "uterine tumor" BROAD [DOID:363, NCIT:C3435] +synonym: "uterine cancer" EXACT [DOID:363, NCIT:C3552] +synonym: "uterine cancer, NOS" RELATED EXCLUDE [] +synonym: "uterine tumor" BROAD [] synonym: "uterine tumour" BROAD OMO:0003005 [] synonym: "uterus cancer" EXACT [MONDO:patterns/location] -synonym: "uterus neoplasm" BROAD [DOID:363] +synonym: "uterus neoplasm" BROAD [] xref: DOID:363 {source="MONDO:equivalentTo"} xref: ICD10CM:C55 {source="DOID:363"} xref: ICD9:179 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:363"} @@ -48597,11 +48599,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:252018"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "central nervous system teratoma" EXACT [MONDO:patterns/location, NCIT:C5441] +synonym: "central nervous system teratoma" EXACT [DOID:3640, MONDO:patterns/location, NCIT:C5441] synonym: "CNS teratoma" EXACT [DOID:3640, NCIT:C5441] synonym: "teratoma of central nervous system" EXACT [NCIT:C5441] synonym: "teratoma of CNS" EXACT [NCIT:C5441] -synonym: "teratoma of the central nervous system" EXACT [MONDO:0016741, NCIT:C5441] +synonym: "teratoma of the central nervous system" EXACT [MONDO:0016741, NCIT:C5441, Orphanet:252018] synonym: "teratoma of the CNS" EXACT [NCIT:C5441] xref: DOID:3640 {source="MONDO:equivalentTo"} xref: GARD:20735 {source="MONDO:GARD"} @@ -48621,7 +48623,7 @@ intersection_of: disease_has_location UBERON:0001017 ! central nervous system id: MONDO:0002719 name: conus medullaris neoplasm def: "A neoplasm (disease) that involves the conus medullaris." [MONDO:patterns/location] -synonym: "conus medullaris neoplasm" EXACT [NCIT:C5443] +synonym: "conus medullaris neoplasm" EXACT [DOID:3641, NCIT:C5443] synonym: "conus medullaris neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "conus medullaris tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5443] synonym: "conus medullaris tumour" EXACT OMO:0003005 [] @@ -48649,14 +48651,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "neoplasm of sella turcica" EXACT [NCIT:C4944] synonym: "neoplasm of the sella turcica" EXACT [NCIT:C4944] -synonym: "sella turcica neoplasm" EXACT [NCIT:C4944] +synonym: "sella turcica neoplasm" EXACT [DOID:3643, NCIT:C4944] synonym: "sella turcica tumor" EXACT [NCIT:C4944] synonym: "sella turcica tumour" EXACT OMO:0003005 [] synonym: "sellar neoplasm" EXACT [NCIT:C4944] synonym: "sellar tumor" EXACT [NCIT:C4944] synonym: "sellar tumour" EXACT OMO:0003005 [] synonym: "selt" RELATED [ONCOTREE:SELT] -synonym: "tumor of sella turcica" EXACT [DOID:3643, NCIT:C4944] +synonym: "tumor of sella turcica" EXACT [DOID:3643] synonym: "tumor of the sella turcica" EXACT [NCIT:C4944] synonym: "tumour of sella turcica" EXACT OMO:0003005 [] synonym: "tumour of the sella turcica" EXACT OMO:0003005 [] @@ -48705,7 +48707,7 @@ synonym: "olfactory neural neoplasm" EXACT [NCIT:C5121] synonym: "olfactory neural tumor" EXACT [DOID:8256, NCIT:C5121] synonym: "olfactory neural tumour" EXACT OMO:0003005 [] synonym: "tumor of first cranial nerve" EXACT [NCIT:C5121] -synonym: "tumor of olfactory nerve" EXACT [DOID:366, MONDO:patterns/neoplasm, NCIT:C5121] +synonym: "tumor of olfactory nerve" EXACT [MONDO:patterns/neoplasm, NCIT:C5121] synonym: "tumor of the first cranial nerve" EXACT [NCIT:C5121] synonym: "tumor of the olfactory nerve" EXACT [NCIT:C5121] synonym: "tumour of first cranial nerve" EXACT OMO:0003005 [] @@ -48739,13 +48741,13 @@ def: "A heterogeneous group of disorders characterized by the abnormal growth an subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mast cell neoplasm" EXACT [NCIT:C9295] +synonym: "mast cell neoplasm" EXACT [DOID:3664, NCIT:C9295] synonym: "Mast cell proliferative disease" EXACT [DOID:3664, NCIT:C9295] -synonym: "Mast cell tumor" EXACT [NCIT:C9295] +synonym: "Mast cell tumor" EXACT [DOID:3664, NCIT:C9295] synonym: "mast cell tumor" EXACT [DOID:3664, NCIT:C9295] synonym: "Mast cell tumour" EXACT OMO:0003005 [] synonym: "mast cell tumour" EXACT OMO:0003005 [] -synonym: "mastocytoma" RELATED EXCLUDE [DOID:3664] +synonym: "mastocytoma" RELATED EXCLUDE [] synonym: "neoplasm of Mast cells" EXACT [NCIT:C9295] synonym: "neoplasm of the Mast cells" EXACT [NCIT:C9295] synonym: "tumor of Mast cells" EXACT [NCIT:C9295] @@ -48780,9 +48782,9 @@ def: "A variant of cutaneous mastocytosis which occurs as a single lesion usuall subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "skin solitary mastocytoma" EXACT [NCIT:C7138] -synonym: "solitary mastocytoma" RELATED EXCLUDE [DOID:3666] +synonym: "solitary mastocytoma" RELATED EXCLUDE [] synonym: "solitary mastocytoma of skin" EXACT [DOID:3666, NCIT:C7138] -synonym: "solitary mastocytoma of the skin" EXACT [NCIT:C7138] +synonym: "solitary mastocytoma of the skin" EXACT [DOID:3666, NCIT:C7138] xref: DOID:3666 {source="MONDO:equivalentTo"} xref: ICDO:9740/1 {source="NCIT:C7138"} xref: MESH:D054705 {source="MONDO:equivalentTo"} @@ -48798,9 +48800,9 @@ synonym: "disease of olfactory nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of olfactory nerve" EXACT [] synonym: "disorder of 1st nerve" EXACT [DOID:367, NCIT:C27210] synonym: "disorder of olfactory [1st] nerve" EXACT [DOID:367, ICD9CM:352.0] -synonym: "disorder of olfactory nerve" EXACT [MONDO:patterns/location_top] +synonym: "disorder of olfactory nerve" EXACT [DOID:367, MONDO:patterns/location_top] synonym: "disorder of the 1st nerve" EXACT [NCIT:C27210] -synonym: "olfactory nerve disease" EXACT [MONDO:patterns/location] +synonym: "olfactory nerve disease" EXACT [DOID:367, MONDO:patterns/location] synonym: "olfactory nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "olfactory nerve disorder" EXACT [NCIT:C27210] xref: DOID:367 {source="MONDO:equivalentTo"} @@ -48827,11 +48829,11 @@ subset: ordo_disorder {source="Orphanet:69077"} subset: orphanet_rare {source="Orphanet:69077"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "malignant rhabdoid tumor" EXACT [DOID:3672, MONDO:0005548, Orphanet:69077] -synonym: "malignant rhabdoid tumour" EXACT OMO:0003005 [] -synonym: "rhabdoid cancer" RELATED [DOID:3672] +synonym: "malignant rhabdoid tumor" EXACT [MONDO:0005548, Orphanet:69077] +synonym: "malignant rhabdoid tumour" EXACT OMO:0003005 [DOID:3672] +synonym: "rhabdoid cancer" RELATED [] synonym: "rhabdoid sarcoma" EXACT [DOID:3672, NCIT:C3808] -synonym: "rhabdoid tumor" EXACT [DOID:3672, MONDO:0019069, NCIT:C3808] +synonym: "rhabdoid tumor" EXACT [MONDO:0019069, NCIT:C3808, Orphanet:69077] xref: DOID:3672 {source="MONDO:equivalentTo"} xref: EFO:0005701 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7572 {source="MONDO:GARD"} @@ -48856,8 +48858,8 @@ def: "A rhabdoid tumor that arises from the kidney. It occurs in children and it subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "kidney rhabdoid cancer" RELATED [DOID:3674] -synonym: "kidney rhabdoid tumor" EXACT [DOID:3674, MONDO:patterns/location, NCIT:C8715] +synonym: "kidney rhabdoid cancer" RELATED [] +synonym: "kidney rhabdoid tumor" EXACT [MONDO:patterns/location, NCIT:C8715] synonym: "kidney rhabdoid tumour" EXACT OMO:0003005 [] synonym: "malignant rhabdoid tumor of kidney" EXACT [NCIT:C8715] synonym: "malignant rhabdoid tumor of the kidney" EXACT [NCIT:C8715] @@ -48869,10 +48871,10 @@ synonym: "renal rhabdoid tumor" EXACT [DOID:3674, NCIT:C8715] synonym: "renal rhabdoid tumour" EXACT OMO:0003005 [] synonym: "rhabdoid neoplasm of kidney" EXACT [NCIT:C8715] synonym: "rhabdoid neoplasm of the kidney" EXACT [NCIT:C8715] -synonym: "rhabdoid tumor of kidney" EXACT [NCIT:C8715] -synonym: "rhabdoid tumor of the kidney" EXACT [MONDO:0006399, NCIT:C8715] +synonym: "rhabdoid tumor of kidney" EXACT [] +synonym: "rhabdoid tumor of the kidney" EXACT [DOID:3674, MONDO:0006399, NCIT:C8715] synonym: "rhabdoid tumor of the kidney (RTK)" EXACT [NCIT:C8715] -synonym: "rhabdoid tumour of kidney" EXACT OMO:0003005 [] +synonym: "rhabdoid tumour of kidney" EXACT OMO:0003005 [NCIT:C8715] synonym: "rhabdoid tumour of the kidney (RTK)" EXACT OMO:0003005 [] xref: DOID:3674 {source="MONDO:equivalentTo"} xref: EFO:1000512 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -48894,7 +48896,7 @@ synonym: "childhood kidney tumour" EXACT OMO:0003005 [] synonym: "childhood renal neoplasm" EXACT [NCIT:C6563] synonym: "childhood renal tumor" EXACT [NCIT:C6563] synonym: "childhood renal tumour" EXACT OMO:0003005 [] -synonym: "kidney neoplasm" BROAD [NCIT:C6563] +synonym: "kidney neoplasm" BROAD [] synonym: "kidney neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric kidney neoplasm" EXACT OMO:0003005 [] synonym: "paediatric kidney tumour" EXACT OMO:0003005 [] @@ -48921,7 +48923,7 @@ def: "A cancer that involves the cerebral hemisphere." [MONDO:patterns/location] synonym: "cancer of cerebral hemisphere" EXACT [MONDO:patterns/cancer] synonym: "cancer of telencephalon" EXACT [MONDO:patterns/cancer] synonym: "cerebral cancer" EXACT [DOID:368, NCIT:C4577] -synonym: "cerebrum cancer" RELATED [DOID:368] +synonym: "cerebrum cancer" RELATED [] synonym: "malignant cerebral hemisphere neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant cerebral hemispheric neoplasm" EXACT [NCIT:C4577] synonym: "malignant cerebral hemispheric tumor" EXACT [NCIT:C4577] @@ -48944,9 +48946,9 @@ synonym: "malignant tumour of cerebral hemispheres" EXACT OMO:0003005 [] synonym: "malignant tumour of cerebrum" EXACT OMO:0003005 [] synonym: "malignant tumour of the cerebral hemispheres" EXACT OMO:0003005 [] synonym: "malignant tumour of the cerebrum" EXACT OMO:0003005 [] -synonym: "neoplasm of cerebrum" RELATED EXCLUDE [DOID:368] +synonym: "neoplasm of cerebrum" RELATED EXCLUDE [] synonym: "telencephalon cancer" EXACT [MONDO:patterns/location] -synonym: "tumor of cerebrum" BROAD [DOID:368, NCIT:C4874] +synonym: "tumor of cerebrum" BROAD [] synonym: "tumour of cerebrum" BROAD OMO:0003005 [] xref: DOID:368 {source="MONDO:equivalentTo"} xref: ICD9:191.8 {source="DOID:368"} @@ -48977,8 +48979,8 @@ synonym: "benign tumor of lung" EXACT [NCIT:C4454] synonym: "benign tumor of the lung" EXACT [NCIT:C4454] synonym: "benign tumour of lung" EXACT OMO:0003005 [] synonym: "benign tumour of the lung" EXACT OMO:0003005 [] -synonym: "lung benign neoplasm" EXACT [MONDO:patterns/location] -synonym: "tumor of the lung" BROAD [DOID:3683, NCIT:C3200] +synonym: "lung benign neoplasm" EXACT [DOID:3683, MONDO:patterns/location] +synonym: "tumor of the lung" BROAD [] synonym: "tumour of the lung" BROAD OMO:0003005 [] xref: DOID:3683 {source="MONDO:equivalentTo"} xref: MEDGEN:83393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -49004,7 +49006,7 @@ replaced_by: MONDO:0024432 id: MONDO:0002734 name: anal mucinous adenocarcinoma def: "An anal adenocarcinoma characterized by the presence of mucoid stroma formation." [NCIT:C5606] -synonym: "anal colloid adenocarcinoma" EXACT [NCIT:C5606] +synonym: "anal colloid adenocarcinoma" EXACT [DOID:3691, NCIT:C5606] synonym: "anal colloidal adenocarcinoma" EXACT [NCIT:C5606] synonym: "anal mucinous adenocarcinoma" EXACT [NCIT:C5606] synonym: "anus mucinous adenocarcinoma" EXACT [MONDO:patterns/location] @@ -49034,9 +49036,9 @@ subset: orphanet_rare {source="Orphanet:424016"} subset: rare synonym: "adenocarcinoma arising in anal mucosa" EXACT [NCIT:C7471] synonym: "adenocarcinoma arising in the anal mucosa" EXACT [NCIT:C7471] -synonym: "adenocarcinoma of anal canal" EXACT [DOID:3692, NCIT:C7471] -synonym: "adenocarcinoma of the anal canal" EXACT [DOID:3692, MONDO:0018518, NCIT:C7471] -synonym: "anal canal adenocarcinoma" EXACT [MONDO:ambiguous, MONDO:patterns/location, NCIT:C7471] +synonym: "adenocarcinoma of anal canal" EXACT [NCIT:C7471] +synonym: "adenocarcinoma of the anal canal" EXACT [DOID:3692, MONDO:0018518, NCIT:C7471, Orphanet:424016] +synonym: "anal canal adenocarcinoma" EXACT [DOID:3692, MONDO:ambiguous, MONDO:patterns/location, NCIT:C7471] synonym: "anal canal adenocarcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3692 {source="MONDO:equivalentTo"} xref: GARD:21773 {source="MONDO:GARD"} @@ -49060,7 +49062,7 @@ name: ampulla of vater mucinous adenocarcinoma def: "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation." [NCIT:C27416] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ampulla of Vater mucinous adenocarcinoma" EXACT [NCIT:C27416] +synonym: "ampulla of Vater mucinous adenocarcinoma" EXACT [DOID:3693, NCIT:C27416] synonym: "hepatopancreatic ampulla mucinous adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3693 {source="MONDO:equivalentTo"} xref: MEDGEN:233973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -49120,7 +49122,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "bile duct colloid carcinoma" EXACT [NCIT:C5846] synonym: "bile duct colloidal carcinoma" EXACT [NCIT:C5846] -synonym: "bile duct mucinous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5846] +synonym: "bile duct mucinous adenocarcinoma" EXACT [DOID:3698, MONDO:patterns/location, NCIT:C5846] synonym: "colloid adenocarcinoma of bile duct" EXACT [NCIT:C5846] synonym: "colloid adenocarcinoma of extrahepatic bile duct" EXACT [NCIT:C5846] synonym: "colloid adenocarcinoma of the bile duct" EXACT [NCIT:C5846] @@ -49164,7 +49166,7 @@ name: uterine ligament mucinous adenocarcinoma def: "A rare mucinous adenocarcinoma that arises from the uterine ligament." [NCIT:C40137] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "uterine ligament mucinous adenocarcinoma" EXACT [NCIT:C40137] +synonym: "uterine ligament mucinous adenocarcinoma" EXACT [DOID:3699] xref: DOID:3699 {source="MONDO:equivalentTo"} xref: NCIT:C40137 {source="MONDO:equivalentTo", source="DOID:3699", source="MONDO:exact-label-match"} is_a: MONDO:0002741 {source="DOID:3699", source="MONDO:Redundant", source="NCIT:C40137"} ! uterine ligament adenocarcinoma @@ -49178,7 +49180,7 @@ name: uterine ligament adenocarcinoma def: "A rare adenocarcinoma that arises from the uterine ligament." [NCIT:C40135] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "uterine ligament adenocarcinoma" EXACT [NCIT:C40135] +synonym: "uterine ligament adenocarcinoma" EXACT [DOID:3700] xref: DOID:3700 {source="MONDO:equivalentTo"} xref: MEDGEN:311429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40135 {source="DOID:3700", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -49196,9 +49198,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cervical mucinous adenocarcinoma" EXACT [NCIT:C36095] -synonym: "cervical mucinous adenocarcinoma, NOS" RELATED EXCLUDE [NCIT:C36095] -synonym: "cervical mucinous adenocarcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C36095] +synonym: "cervical mucinous adenocarcinoma" EXACT [DOID:3701, NCIT:C36095] +synonym: "cervical mucinous adenocarcinoma, NOS" RELATED EXCLUDE [] +synonym: "cervical mucinous adenocarcinoma, not otherwise specified" RELATED EXCLUDE [] synonym: "uterine cervix mucinous adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3701 {source="MONDO:equivalentTo"} xref: MEDGEN:232048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -49221,7 +49223,7 @@ name: fallopian tube mucinous adenocarcinoma def: "An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas." [NCIT:C40103] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "fallopian tube mucinous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40103] +synonym: "fallopian tube mucinous adenocarcinoma" EXACT [DOID:3704, MONDO:patterns/location, NCIT:C40103] xref: DOID:3704 {source="MONDO:equivalentTo"} xref: MEDGEN:274489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40103 {source="MONDO:equivalentTo", source="DOID:3704", source="MONDO:exact-label-match"} @@ -49237,7 +49239,7 @@ id: MONDO:0002745 name: fallopian tube mucinous tumor def: "A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." [NCIT:C40109] synonym: "fallopian tube mucinous neoplasm" EXACT [MONDO:patterns/location, NCIT:C40109] -synonym: "fallopian tube mucinous tumor" EXACT [NCIT:C40109] +synonym: "fallopian tube mucinous tumor" EXACT [DOID:3705, NCIT:C40109] xref: DOID:3705 {source="MONDO:equivalentTo"} xref: MEDGEN:275871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40109 {source="MONDO:equivalentTo", source="DOID:3705"} @@ -49256,7 +49258,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenocarcinoma of fallopian tube" EXACT [NCIT:C6265] synonym: "adenocarcinoma of the fallopian tube" EXACT [DOID:3706, NCIT:C6265] -synonym: "fallopian tube adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6265] +synonym: "fallopian tube adenocarcinoma" EXACT [DOID:3706, MONDO:patterns/location, NCIT:C6265] xref: DOID:3706 {source="MONDO:equivalentTo"} xref: MEDGEN:232183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6265 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3706"} @@ -49271,9 +49273,9 @@ id: MONDO:0002747 name: endometrial mucinous adenocarcinoma def: "A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin." [NCIT:C40144] subset: otar {source="MONDO:OTAR"} -synonym: "endometrial mucinous adenocarcinoma" EXACT [MONDO:0006194, NCIT:C40144] +synonym: "endometrial mucinous adenocarcinoma" EXACT [DOID:3707, icd11.foundation:395055399, MONDO:0006194, NCIT:C40144] synonym: "endometrium mucinous adenocarcinoma" EXACT [MONDO:patterns/location] -synonym: "uterine corpus mucinous adenocarcinoma" RELATED [DOID:3707, NCIT:C40144] +synonym: "uterine corpus mucinous adenocarcinoma" RELATED [] synonym: "uterine mucinous carcinoma" RELATED [ONCOTREE:UMC] xref: DOID:3707 {source="MONDO:equivalentTo"} xref: EFO:1000236 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -49300,7 +49302,7 @@ synonym: "mucinous adenocarcinoma of the rectum" EXACT [NCIT:C7973] synonym: "rectal colloid adenocarcinoma" EXACT [NCIT:C7973] synonym: "rectal colloidal adenocarcinoma" EXACT [NCIT:C7973] synonym: "rectal mucinous adenocarcinoma" EXACT [NCIT:C7973] -synonym: "rectum mucinous adenocarcinoma" EXACT [MONDO:patterns/location] +synonym: "rectum mucinous adenocarcinoma" EXACT [DOID:3709, MONDO:patterns/location] xref: DOID:3709 {source="MONDO:equivalentTo"} xref: MEDGEN:83537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7973 {source="DOID:3709", source="MONDO:equivalentTo"} @@ -49316,7 +49318,7 @@ name: extracranial neuroblastoma def: "A neuroblastoma arising from an anatomic site other than the brain." [NCIT:C5437] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "extracranial neuroblastoma" EXACT [NCIT:C5437] +synonym: "extracranial neuroblastoma" EXACT [DOID:371, NCIT:C5437] xref: DOID:371 {source="MONDO:equivalentTo"} xref: MEDGEN:272601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5437 {source="MONDO:equivalentTo", source="DOID:371", source="MONDO:exact-label-match"} @@ -49338,13 +49340,13 @@ id: MONDO:0002751 name: bladder adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the urinary bladder" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma of bladder" EXACT [NCIT:C4032] +synonym: "adenocarcinoma of bladder" EXACT [DOID:3711, NCIT:C4032] synonym: "adenocarcinoma of the bladder" EXACT [NCIT:C4032] synonym: "adenocarcinoma of the urinary bladder" EXACT [DOID:3711, NCIT:C4032] synonym: "adenocarcinoma of urinary bladder" EXACT [NCIT:C4032] synonym: "blad" RELATED [ONCOTREE:BLAD] -synonym: "bladder adenocarcinoma" EXACT [MONDO:0006110, NCIT:C4032] -synonym: "bladder adenocarcinoma, not otherwise specified" RELATED EXCLUDE [DOID:3711, NCIT:C39836] +synonym: "bladder adenocarcinoma" EXACT [DOID:3711, MONDO:0006110, NCIT:C4032] +synonym: "bladder adenocarcinoma, not otherwise specified" RELATED EXCLUDE [] synonym: "urinary bladder adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4032] xref: DOID:3711 {source="MONDO:equivalentTo"} xref: EFO:1000125 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -49368,11 +49370,11 @@ subset: ordo_disorder {source="Orphanet:213504"} subset: orphanet_rare {source="Orphanet:213504"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenocarcinoma of ovary" EXACT [MONDO:0016246, NCIT:C7700] -synonym: "adenocarcinoma of the ovary" EXACT [DOID:3713, NCIT:C7700] -synonym: "ovarian adenoacanthoma" RELATED EXCLUDE [DOID:3713] +synonym: "adenocarcinoma of ovary" EXACT [MONDO:0016246, NCIT:C7700, Orphanet:213504] +synonym: "adenocarcinoma of the ovary" EXACT [NCIT:C7700] +synonym: "ovarian adenoacanthoma" RELATED EXCLUDE [] synonym: "ovarian adenocarcinoma" EXACT [DOID:3713, MONDO:0005600, NCIT:C7700, Orphanet:213504] -synonym: "ovary adenocarcinoma" EXACT [MONDO:patterns/location] +synonym: "ovary adenocarcinoma" EXACT [DOID:3713, MONDO:patterns/location] xref: DOID:3713 {source="MONDO:equivalentTo"} xref: EFO:0006460 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:20466 {source="MONDO:GARD"} @@ -49400,11 +49402,11 @@ def: "A plasma cell neoplasm arising at an extraosseous site. There is no involv subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "EP" RELATED ABBREVIATION [ONCOTREE:EP] -synonym: "extramedullary plasmacytoma" EXACT [DOID:3720, NCIT:C4002] -synonym: "extramedullary plasmacytoma (clinical)" EXACT [DOID:3720] +synonym: "extramedullary plasmacytoma" EXACT [DOID:3720, ICD10CM:C90.2, icd11.foundation:246947217, NCIT:C4002] +synonym: "extramedullary plasmacytoma (clinical)" EXACT [] synonym: "extraosseous plasmacytoma" EXACT [DOID:3720, NCIT:C4002] -synonym: "plasmacytoma, extramedullary" EXACT [DOID:3720] -synonym: "plasmacytoma, extramedullary (not occurring in bone)" EXACT [DOID:3720] +synonym: "plasmacytoma, extramedullary" EXACT [DOID:3720, NCIT:C4002] +synonym: "plasmacytoma, extramedullary (not occurring in bone)" EXACT [] xref: DOID:3720 {source="MONDO:equivalentTo"} xref: ICD10CM:C90.2 {source="DOID:3720", source="MONDO:equivalentTo"} xref: ICD10CM:C90.20 {source="DOID:3720"} @@ -49427,9 +49429,9 @@ name: solitary osseous plasmacytoma def: "A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion." [NCIT:C7812] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "isolated osseous plasmacytoma" EXACT [DOID:3722, NCIT:C7812] -synonym: "isolated plasmacytoma of bone" EXACT [NCIT:C7812] -synonym: "solitary plasmacytoma of bone" EXACT [DOID:3722] +synonym: "isolated osseous plasmacytoma" EXACT [DOID:3722] +synonym: "isolated plasmacytoma of bone" EXACT [] +synonym: "solitary plasmacytoma of bone" EXACT [DOID:3722, NCIT:C7812] synonym: "SPB" RELATED ABBREVIATION [ONCOTREE:SPB] xref: DOID:3722 {source="MONDO:equivalentTo"} xref: ICD9:238.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -49450,7 +49452,7 @@ subset: rare synonym: "chest wall plasmacytoma" EXACT [MONDO:patterns/location] synonym: "chest wall solitary plasmacytoma" EXACT [NCIT:C6711] synonym: "plasmacytoma of chest wall" EXACT [MONDO:design_pattern] -synonym: "solitary plasmacytoma of chest wall" EXACT [NCIT:C6711] +synonym: "solitary plasmacytoma of chest wall" EXACT [DOID:3723, NCIT:C6711] synonym: "solitary plasmacytoma of the chest wall" EXACT [DOID:3723, NCIT:C6711] xref: DOID:3723 {source="MONDO:equivalentTo"} xref: MEDGEN:232340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -49497,7 +49499,7 @@ id: MONDO:0002759 name: bladder verrucous carcinoma def: "A verrucous carcinoma that involves the urinary bladder." [MONDO:patterns/location] synonym: "bladder verrucous carcinoma" EXACT [NCIT:C39832] -synonym: "bladder verrucous squamous cell carcinoma" EXACT [NCIT:C39832] +synonym: "bladder verrucous squamous cell carcinoma" EXACT [DOID:3741, NCIT:C39832] synonym: "urinary bladder verrucous carcinoma" EXACT [MONDO:patterns/location] xref: DOID:3741 {source="MONDO:equivalentTo"} xref: MEDGEN:267376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -49515,13 +49517,13 @@ def: "A squamous cell carcinoma of the bladder arising from metaplastic epitheli subset: otar {source="MONDO:OTAR"} synonym: "bladder epidermoid carcinoma" EXACT [NCIT:C4031] synonym: "bladder squamous cell cancer" EXACT [NCIT:C4031] -synonym: "bladder squamous cell carcinoma" EXACT [MONDO:0006114, NCIT:C4031] +synonym: "bladder squamous cell carcinoma" EXACT [DOID:3742, MONDO:0006114, NCIT:C4031] synonym: "BLSC" RELATED ABBREVIATION [ONCOTREE:BLSC] synonym: "epidermoid carcinoma of bladder" EXACT [NCIT:C4031] synonym: "epidermoid carcinoma of the bladder" EXACT [NCIT:C4031] synonym: "epidermoid carcinoma of the urinary bladder" EXACT [DOID:3742, NCIT:C4031] synonym: "epidermoid carcinoma of urinary bladder" EXACT [NCIT:C4031] -synonym: "squamous cell carcinoma of bladder" EXACT [NCIT:C4031] +synonym: "squamous cell carcinoma of bladder" EXACT [DOID:3742, NCIT:C4031] synonym: "squamous cell carcinoma of the bladder" EXACT [NCIT:C4031] synonym: "squamous cell carcinoma of the urinary bladder" EXACT [NCIT:C4031] synonym: "squamous cell carcinoma of urinary bladder" EXACT [NCIT:C4031] @@ -49545,7 +49547,7 @@ name: cervical verrucous carcinoma def: "A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present." [NCIT:C40190] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cervical verrucous carcinoma" EXACT [NCIT:C40190] +synonym: "cervical verrucous carcinoma" EXACT [DOID:3743, NCIT:C40190] synonym: "uterine cervix verrucous carcinoma" EXACT [MONDO:patterns/location] xref: DOID:3743 {source="MONDO:equivalentTo"} xref: MEDGEN:275713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -49564,10 +49566,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "esophageal verrucous cancer" EXACT [NCIT:C27420] synonym: "esophageal verrucous carcinoma" EXACT [NCIT:C27420] -synonym: "esophagus verrucous carcinoma" EXACT [MONDO:patterns/location] +synonym: "esophagus verrucous carcinoma" EXACT [DOID:3747, MONDO:patterns/location] synonym: "verrucous carcinoma of esophagus" EXACT [DOID:3747, NCIT:C27420] -synonym: "verrucous carcinoma of oesophagus" EXACT OMO:0003005 [] -synonym: "verrucous carcinoma of the esophagus" EXACT [DOID:3747, NCIT:C27420] +synonym: "verrucous carcinoma of oesophagus" EXACT OMO:0003005 [DOID:3747] +synonym: "verrucous carcinoma of the esophagus" EXACT [NCIT:C27420] synonym: "verrucous carcinoma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:3747 {source="MONDO:equivalentTo"} xref: MEDGEN:272594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -49583,7 +49585,7 @@ id: MONDO:0002763 name: urethral verrucous carcinoma def: "A verrucous carcinoma that involves the urethra." [MONDO:patterns/location] synonym: "urethra verrucous carcinoma" EXACT [MONDO:patterns/location] -synonym: "urethral verrucous carcinoma" EXACT [NCIT:C39874] +synonym: "urethral verrucous carcinoma" EXACT [DOID:3749, NCIT:C39874] xref: DOID:3749 {source="MONDO:equivalentTo"} xref: MEDGEN:274359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39874 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3749"} @@ -49603,7 +49605,7 @@ synonym: "epidermoid carcinoma of urethra" EXACT [NCIT:C6165] synonym: "squamous cell carcinoma of the urethra" EXACT [NCIT:C6165] synonym: "squamous cell carcinoma of urethra" EXACT [NCIT:C6165] synonym: "urethra epidermoid carcinoma" EXACT [NCIT:C6165] -synonym: "urethra squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6165] +synonym: "urethra squamous cell carcinoma" EXACT [DOID:3750, MONDO:patterns/location, NCIT:C6165] synonym: "urethral epidermoid carcinoma" EXACT [DOID:3750, NCIT:C6165] synonym: "urethral squamous cell cancer" EXACT [NCIT:C6165] synonym: "urethral squamous cell carcinoma" EXACT [NCIT:C6165] @@ -49626,7 +49628,7 @@ def: "A verrucous carcinoma that involves the plantar part of pes." [MONDO:patte synonym: "plantar part of pes verrucous carcinoma" EXACT [MONDO:patterns/location] synonym: "plantar verrucous carcinoma of skin" EXACT [NCIT:C6811] synonym: "plantar verrucous carcinoma of the skin" EXACT [NCIT:C6811] -synonym: "plantar verrucous skin carcinoma" EXACT [NCIT:C6811] +synonym: "plantar verrucous skin carcinoma" EXACT [DOID:3751, NCIT:C6811] xref: DOID:3751 {source="MONDO:equivalentTo"} xref: MEDGEN:578859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6811 {source="DOID:3751", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -49644,7 +49646,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "laryngeal throat verrucous cancer" EXACT [NCIT:C8188] synonym: "laryngeal verrucous carcinoma" EXACT [NCIT:C8188] -synonym: "larynx verrucous carcinoma" EXACT [MONDO:patterns/location, NCIT:C8188] +synonym: "larynx verrucous carcinoma" EXACT [DOID:3752, MONDO:patterns/location, NCIT:C8188] synonym: "verrucous carcinoma of larynx" EXACT [NCIT:C8188] synonym: "verrucous carcinoma of the larynx" EXACT [DOID:3752, NCIT:C8188] xref: DOID:3752 {source="MONDO:equivalentTo"} @@ -49670,8 +49672,8 @@ name: true hermaphroditism def: "A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia." [NCIT:C85207] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "hermaphroditism" EXACT [NCIT:C85207] -synonym: "ovotestis" EXACT [NCIT:C85207] +synonym: "hermaphroditism" EXACT [DOID:3763] +synonym: "ovotestis" EXACT [] synonym: "true hermaphroditism" EXACT [NCIT:C85207] xref: DOID:3763 {source="MONDO:equivalentTo"} xref: MEDGEN:78595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -49708,7 +49710,7 @@ is_a: MONDO:0002770 {source="DOID:3766", source="MESH:D007973"} ! vaginal discha id: MONDO:0002770 name: vaginal discharge def: "Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer." [NCIT:C50795] -synonym: "Discharge, vaginal" EXACT [NCIT:C50795] +synonym: "Discharge, vaginal" EXACT [] xref: DOID:3767 {source="MONDO:equivalentTo"} xref: icd11.foundation:2123556104 {source="MONDO:equivalentTo"} xref: MEDGEN:65302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -49796,15 +49798,15 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of external ear" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of external ear" EXACT [] synonym: "disorder of external ear" EXACT [MONDO:patterns/location_top] -synonym: "external ear disease" EXACT [MONDO:patterns/location] +synonym: "external ear disease" EXACT [DOID:379, MONDO:patterns/location] synonym: "external ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "external ear disorder" EXACT [NCIT:C26972] -synonym: "preauricular cyst" RELATED DUBIOUS [DOID:379] -synonym: "preauricular cyst (disorder)" RELATED DUBIOUS [DOID:379] +synonym: "preauricular cyst" RELATED DUBIOUS [] +synonym: "preauricular cyst (disorder)" RELATED DUBIOUS [] synonym: "preauricular sinus and fistula" EXACT [DOID:379] -synonym: "preauricular sinus and fistula (disorder)" RELATED DUBIOUS [DOID:379] -synonym: "preauricular sinus or fistula" RELATED DUBIOUS [DOID:379] -synonym: "preauricular sinus or fistula NOS (disorder)" RELATED DUBIOUS [DOID:379] +synonym: "preauricular sinus and fistula (disorder)" RELATED DUBIOUS [] +synonym: "preauricular sinus or fistula" RELATED DUBIOUS [] +synonym: "preauricular sinus or fistula NOS (disorder)" RELATED DUBIOUS [] xref: DOID:379 {source="MONDO:equivalentTo"} xref: EFO:0009668 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H60-H62 {source="DOID:379", source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -49850,7 +49852,7 @@ is_a: MONDO:0001279 {source="DOID:3809", source="NCIT:C5310"} ! intraspinal meni id: MONDO:0002779 name: central nervous system chondroma def: "An extraskeletal chondroma usually arising from the dura." [NCIT:C7001] -synonym: "central nervous system chondroma" EXACT [MONDO:patterns/location, NCIT:C7001] +synonym: "central nervous system chondroma" EXACT [DOID:3813, MONDO:patterns/location, NCIT:C7001] synonym: "central nervous system osteochondroma" EXACT [NCIT:C7001] synonym: "chondroma of central nervous system" EXACT [NCIT:C7001] synonym: "chondroma of CNS" EXACT [NCIT:C7001] @@ -49899,7 +49901,7 @@ id: MONDO:0002782 name: cranial nerve palsy def: "Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness." [NCIT:C26941] subset: otar {source="MONDO:OTAR"} -synonym: "cranial nerve palsies" RELATED [NCIT:C26941] +synonym: "cranial nerve palsies" RELATED [] synonym: "cranial nerve palsy" EXACT [DOID:3817, NCIT:C26941] synonym: "cranial nerve paralysis" EXACT [DOID:3817, NCIT:C26941] xref: DOID:3817 {source="MONDO:equivalentTo"} @@ -49920,7 +49922,7 @@ subset: gard_rare {source="GARD:7636", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Shwartzman reaction" EXACT [DOID:3825] -synonym: "Shwartzman reaction (function)" EXACT [DOID:3825] +synonym: "Shwartzman reaction (function)" EXACT [] xref: DOID:3825 {source="MONDO:equivalentTo"} xref: GARD:7636 {source="MONDO:GARD"} xref: MEDGEN:48656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -49951,14 +49953,14 @@ synonym: "basicranium tumour" EXACT OMO:0003005 [] synonym: "neoplasm of basicranium" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of skull base" EXACT [NCIT:C4676] synonym: "neoplasm of the skull base" EXACT [NCIT:C4676] -synonym: "skull base cancer" RELATED [DOID:3842] +synonym: "skull base cancer" RELATED [] synonym: "skull base neoplasm" EXACT [NCIT:C4676] synonym: "skull base tumor" EXACT [NCIT:C4676] synonym: "skull base tumour" EXACT OMO:0003005 [] synonym: "tumor of basicranium" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of skull base" EXACT [NCIT:C4676] synonym: "tumor of the skull base" EXACT [NCIT:C4676] -synonym: "tumors of skull base" EXACT [DOID:3842, NCIT:C4676] +synonym: "tumors of skull base" EXACT [DOID:3842] synonym: "tumour of basicranium" EXACT OMO:0003005 [] synonym: "tumour of skull base" EXACT OMO:0003005 [] synonym: "tumour of the skull base" EXACT OMO:0003005 [] @@ -49978,7 +49980,7 @@ id: MONDO:0002786 name: diencephalic cancer def: "A cancer involving a diencephalon." [MONDO:patterns/cancer] synonym: "cancer of diencephalon" EXACT [MONDO:patterns/cancer] -synonym: "diencephalic neoplasm" RELATED [DOID:3843] +synonym: "diencephalic neoplasm" RELATED [] synonym: "diencephalon cancer" EXACT [MONDO:patterns/location] synonym: "malignant diencephalic neoplasm" EXACT [DOID:3843, NCIT:C5126] synonym: "malignant diencephalic neoplasms" EXACT [NCIT:C5126] @@ -49986,7 +49988,7 @@ synonym: "malignant diencephalic tumor" EXACT [DOID:3843, NCIT:C5126] synonym: "malignant diencephalic tumour" EXACT OMO:0003005 [] synonym: "malignant diencephalon neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of diencephalon" EXACT [MONDO:patterns/cancer] -synonym: "tumor of diencephalon" EXACT [DOID:3843, NCIT:C5125] +synonym: "tumor of diencephalon" EXACT [DOID:3843] synonym: "tumour of diencephalon" EXACT OMO:0003005 [] xref: DOID:3843 {source="MONDO:equivalentTo"} xref: MEDGEN:233659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -50004,14 +50006,14 @@ def: "A craniopharyngioma consisting of broad strands, cords and bridges of a mu subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adamantinomatous craniopharyngioma" EXACT [NCIT:C4726] -synonym: "adamantinous craniopharyngioma (morphologic abnormality)" EXACT [DOID:3846] +synonym: "adamantinous craniopharyngioma (morphologic abnormality)" EXACT [] synonym: "adamantinous neoplasm of Rathke's pouch" EXACT [NCIT:C4726] synonym: "adamantinous Rathke's pouch neoplasm" EXACT [NCIT:C4726] synonym: "adamantinous Rathke's pouch tumor" EXACT [DOID:3846, NCIT:C4726] synonym: "adamantinous Rathke's pouch tumour" EXACT OMO:0003005 [] synonym: "adamantinous tumor of Rathke's pouch" EXACT [NCIT:C4726] synonym: "adamantinous tumour of Rathke's pouch" EXACT OMO:0003005 [] -synonym: "craniopharyngioma, adamantinomatous" EXACT [DOID:3846] +synonym: "craniopharyngioma, adamantinomatous" EXACT [DOID:3846, NCIT:C4726] xref: DOID:3846 {source="MONDO:equivalentTo"} xref: ICDO:9351/1 {source="NCIT:C4726"} xref: MEDGEN:98126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -50028,9 +50030,9 @@ name: papillary craniopharyngioma def: "A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)" [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "craniopharyngioma, papillary" EXACT [DOID:3847] -synonym: "craniopharyngioma, papillary (morphologic abnormality)" EXACT [DOID:3847] -synonym: "papillary craniopharyngioma (morphologic abnormality)" EXACT [DOID:3847] +synonym: "craniopharyngioma, papillary" EXACT [DOID:3847, NCIT:C4725] +synonym: "craniopharyngioma, papillary (morphologic abnormality)" EXACT [] +synonym: "papillary craniopharyngioma (morphologic abnormality)" EXACT [] synonym: "papillary neoplasm of Rathke's pouch" EXACT [NCIT:C4725] synonym: "papillary Rathke pouch neoplasm" EXACT [NCIT:C4725] synonym: "papillary Rathke's pouch neoplasm" EXACT [NCIT:C4725] @@ -50053,7 +50055,7 @@ id: MONDO:0002789 name: hemangiopericytic tumor def: "A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." [NCIT:P378] comment: Editor note: TODO check relationship to spindle cell tumor -synonym: "hemangiopericytic neoplasm" EXACT [DOID:3850, MONDO:0006240] +synonym: "hemangiopericytic neoplasm" EXACT [DOID:3850, MONDO:0006240, NCIT:C7076] xref: DOID:3850 {source="MONDO:equivalentTo"} xref: MEDGEN:99196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7076 {source="DOID:3850", source="EFO:1000289", source="MONDO:equivalentTo"} @@ -50069,9 +50071,9 @@ def: "A benign or malignant neoplasm that affects the seminal vesicle. Represent synonym: "neoplasm of seminal vesicle" EXACT [MONDO:patterns/neoplasm] synonym: "seminal vesicle neoplasm" EXACT [DOID:3855, NCIT:C39908] synonym: "seminal vesicle neoplasm (disease)" EXACT [MONDO:patterns/location] -synonym: "seminal vesicle tumor" EXACT [MONDO:patterns/neoplasm] -synonym: "tumor of seminal vesicle" EXACT [MONDO:patterns/neoplasm] -synonym: "tumour of seminal vesicle" EXACT OMO:0003005 [] +synonym: "seminal vesicle tumor" EXACT [DOID:3855, MONDO:patterns/neoplasm] +synonym: "tumor of seminal vesicle" EXACT [DOID:3855, MONDO:patterns/neoplasm] +synonym: "tumour of seminal vesicle" EXACT OMO:0003005 [DOID:3855] xref: DOID:3855 {source="MONDO:equivalentTo"} xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:90967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -50089,7 +50091,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "large cell medulloblastoma" EXACT [DOID:3857, NCIT:C6904] -synonym: "large cell medulloblastoma (morphologic abnormality)" EXACT [DOID:3857] +synonym: "large cell medulloblastoma (morphologic abnormality)" EXACT [] xref: DOID:3857 {source="MONDO:equivalentTo"} xref: EFO:0008508 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:9474/3 {source="NCIT:C6904"} @@ -50105,7 +50107,7 @@ name: cerebellar vermis medulloblastoma def: "A medulloblastoma arising from the vermis of the cerebellum." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cerebellar vermis medulloblastoma" EXACT [MONDO:patterns/location] +synonym: "cerebellar vermis medulloblastoma" EXACT [DOID:3860, MONDO:patterns/location, NCIT:C5401] synonym: "medulloblastoma of cerebellar vermis" EXACT [NCIT:C5401] synonym: "medulloblastoma of the cerebellar vermis" EXACT [NCIT:C5401] synonym: "vermis medulloblastoma" EXACT [DOID:3860, NCIT:C5401] @@ -50129,8 +50131,8 @@ name: adult medulloblastoma def: "A medulloblastoma arising from the brain, occurring in adults." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult brain medulloblastoma" EXACT [DOID:3864] -synonym: "medulloblastoma" BROAD [NCIT:C4011] +synonym: "adult brain medulloblastoma" EXACT [DOID:3864, NCIT:C4011] +synonym: "medulloblastoma" BROAD [] synonym: "medulloblastoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:3864 {source="MONDO:equivalentTo"} xref: MEDGEN:78898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -50148,14 +50150,14 @@ intersection_of: has_characteristic HP:0003581 ! Adult onset id: MONDO:0002795 name: adult central nervous system primitive neuroectodermal neoplasm def: "A central nervous system embryonal tumor, not otherwise specified that occurs in adults." [NCIT:C5411] -synonym: "adult central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5411] -synonym: "adult central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5411] -synonym: "adult central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5411] +synonym: "adult central nervous system embryonal tumor, NOS" RELATED EXCLUDE [] +synonym: "adult central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [] +synonym: "adult central nervous system primitive neuroectodermal neoplasm" EXACT [DOID:3865, NCIT:C5411] synonym: "adult central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5411] synonym: "adult central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "adult central primitive neuroectodermal neoplasm" EXACT [NCIT:C5411] -synonym: "adult central primitive neuroectodermal tumor" EXACT [NCIT:C5411] -synonym: "adult central primitive neuroectodermal tumour" EXACT OMO:0003005 [] +synonym: "adult central primitive neuroectodermal tumor" EXACT [] +synonym: "adult central primitive neuroectodermal tumour" EXACT OMO:0003005 [NCIT:C5411] synonym: "adult CNS PNET" EXACT [DOID:3865, NCIT:C5411] synonym: "adult CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5411] synonym: "adult CNS primitive neuroectodermal tumor" EXACT [NCIT:C5411] @@ -50177,7 +50179,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "medulloblastoma with melanotic differentiation" EXACT [NCIT:C9497] synonym: "medulloblastoma, melanotic" EXACT [DOID:3868] -synonym: "medulloblastoma, melanotic (morphologic abnormality)" EXACT [DOID:3868] +synonym: "medulloblastoma, melanotic (morphologic abnormality)" EXACT [] synonym: "melanocytic medulloblastoma" EXACT [NCIT:C9497] synonym: "melanotic medulloblastoma" EXACT [DOID:3868, NCIT:C9497] synonym: "MMBL" RELATED ABBREVIATION [ONCOTREE:MMBL] @@ -50197,8 +50199,8 @@ name: childhood medulloblastoma def: "A medulloblastoma occurring in children." [NCIT:C3997] subset: gard_rare {source="GARD:9350", source="MONDO:GARD"} subset: rare -synonym: "childhood medulloblastoma" EXACT [NCIT:C3997] -synonym: "medulloblastoma" BROAD [NCIT:C3997] +synonym: "childhood medulloblastoma" EXACT [DOID:3869, NCIT:C3997] +synonym: "medulloblastoma" BROAD [] synonym: "medulloblastoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "medulloblastoma, childhood" RELATED [GARD:0009350] synonym: "paediatric medulloblastoma" EXACT OMO:0003005 [] @@ -50221,12 +50223,12 @@ id: MONDO:0002798 name: childhood central nervous system primitive neuroectodermal neoplasm def: "A central nervous system embryonal tumor, not otherwise specified that occurs in childhood." [NCIT:C5961] synonym: "Central nervous system embryonal tumor, NOS" EXACT [NCIT:C5961] -synonym: "central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5961] +synonym: "central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [] synonym: "central nervous system primitive neuroectodermal neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "childhood central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5961] -synonym: "childhood central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5961] +synonym: "childhood central nervous system embryonal tumor, NOS" RELATED EXCLUDE [] +synonym: "childhood central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [] synonym: "childhood central nervous system PNET" EXACT [NCIT:C5961] -synonym: "childhood central nervous system primitive neuroectodermal neoplasm" EXACT [NCIT:C5961] +synonym: "childhood central nervous system primitive neuroectodermal neoplasm" EXACT [DOID:3870, NCIT:C5961] synonym: "childhood central nervous system primitive neuroectodermal tumor" EXACT [NCIT:C5961] synonym: "childhood central nervous system primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "childhood central primitive neuroectodermal neoplasm" EXACT [NCIT:C5961] @@ -50272,7 +50274,7 @@ name: thrombophlebitis def: "Inflammation of the veins associated with the presence of a thrombus." [NCIT:C3410] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "phlebitis and thrombophlebitis of superficial vessels of lower extremities" EXACT [DOID:3875, ICD9CM:451.0] +synonym: "phlebitis and thrombophlebitis of superficial vessels of lower extremities" EXACT [DOID:3875, ICD10CM:I80.0, ICD9CM:451.0] synonym: "superficial thrombophlebitis of leg" EXACT [DOID:3875] synonym: "thrombophlebitis of a superficial leg vein" EXACT [DOID:3875] synonym: "thrombophlebitis of superficial veins of lower extremity" EXACT [DOID:3875] @@ -50330,10 +50332,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Chronic intestinal pseudo-obstruction." EXACT [] synonym: "hollow visceral myopathy" RELATED [GARD:0006789] -synonym: "intestinal pseudo-obstruction" EXACT [DOID:3878, NCIT:C34733] +synonym: "intestinal pseudo-obstruction" EXACT [NCIT:C34733] synonym: "intestinal pseudoobstruction" RELATED [GARD:0006789] -synonym: "intestine pseudoobstruction" EXACT [DOID:3878] -synonym: "pseudo-obstruction of intestine" EXACT [DOID:3878] +synonym: "intestine pseudoobstruction" EXACT [] +synonym: "pseudo-obstruction of intestine" EXACT [] xref: DOID:3878 {source="MONDO:equivalentObsolete"} xref: GARD:6789 {source="MONDO:GARD"} xref: ICD9:569.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -50349,7 +50351,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6789/intesti id: MONDO:0002804 name: apocrine adenoma def: "A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma." [NCIT:P378] -synonym: "tubular apocrine adenoma" NARROW [DOID:3895, NCIT:C27527] +synonym: "tubular apocrine adenoma" NARROW [] xref: DOID:3895 {source="MONDO:equivalentTo"} xref: ICDO:8401/0 {source="NCIT:C4168"} xref: MEDGEN:90767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -50365,11 +50367,11 @@ id: MONDO:0002805 name: hidradenoma def: "A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma." [NCIT:C7563] subset: otar {source="MONDO:OTAR"} -synonym: "acrospiroma" RELATED [NCIT:C7563] -synonym: "eccrine acrospiroma" RELATED [NCIT:C7563] -synonym: "hidradenoma" EXACT [NCIT:C7563] +synonym: "acrospiroma" RELATED [] +synonym: "eccrine acrospiroma" RELATED [] +synonym: "hidradenoma" EXACT [DOID:3896, NCIT:C7563] synonym: "hidradenoma of skin" EXACT [DOID:3896] -synonym: "sweat gland adenoma" RELATED [DOID:3896, NCIT:C7560] +synonym: "sweat gland adenoma" RELATED [] synonym: "syringoadenoma" EXACT [DOID:3896] xref: DOID:3896 {source="MONDO:equivalentTo"} xref: MEDGEN:1851798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -50399,7 +50401,7 @@ synonym: "bronchiogenic carcinoma" EXACT [NCIT:C35875] synonym: "bronchogenic carcinoma" EXACT [NCIT:C35875] synonym: "bronchogenic lung cancer" EXACT [NCIT:C35875] synonym: "bronchogenic lung carcinoma" EXACT [NCIT:C35875] -synonym: "bronchus carcinoma" EXACT [MONDO:patterns/location] +synonym: "bronchus carcinoma" EXACT [DOID:3904, MONDO:patterns/location] synonym: "carcinoma of bronchus" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, bronchial, malignant" EXACT [NCIT:C35875] xref: CSP:2017-6052 {source="DOID:3904"} @@ -50432,7 +50434,7 @@ synonym: "bronchus neoplasm" EXACT [DOID:3906] synonym: "bronchus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "bronchus tumor" EXACT [MONDO:patterns/neoplasm] synonym: "bronchus tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of bronchus" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of bronchus" EXACT [DOID:3906, MONDO:patterns/neoplasm] synonym: "tumor of bronchus" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of bronchus" EXACT OMO:0003005 [] xref: DOID:3906 {source="MONDO:equivalentTo"} @@ -50455,7 +50457,7 @@ name: pancreatic serous cystadenoma def: "A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss." [NCIT:C5712] synonym: "pancreas serous cystadenoma" EXACT [MONDO:patterns/location] synonym: "pancreatic microcystic adenoma" EXACT [NCIT:C5712] -synonym: "pancreatic serous cystadenoma" EXACT [NCIT:C5712] +synonym: "pancreatic serous cystadenoma" EXACT [DOID:3917, NCIT:C5712] synonym: "PSC" RELATED ABBREVIATION [ONCOTREE:PSC] synonym: "serous cystadenoma of pancreas" EXACT [NCIT:C5712] synonym: "serous cystadenoma of the pancreas" EXACT [NCIT:C5712] @@ -50476,7 +50478,7 @@ def: "A non-metastasizing cystic epithelial neoplasm arising from the exocrine p synonym: "cystadenoma of pancreas" EXACT [NCIT:C4374] synonym: "cystadenoma of the pancreas" EXACT [NCIT:C4374] synonym: "exocrine pancreas cystadenoma" EXACT [MONDO:patterns/location] -synonym: "pancreatic cystadenoma" EXACT [NCIT:C4374] +synonym: "pancreatic cystadenoma" EXACT [DOID:3918, NCIT:C4374] xref: DOID:3918 {source="MONDO:equivalentTo"} xref: MEDGEN:90963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4374 {source="DOID:3918", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -50491,7 +50493,7 @@ intersection_of: disease_has_location UBERON:0000017 ! exocrine pancreas id: MONDO:0002810 name: pancreatic serous cystic neoplasm def: "A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma." [NCIT:C41248] -synonym: "pancreatic serous cystic neoplasm" EXACT [NCIT:C41248] +synonym: "pancreatic serous cystic neoplasm" EXACT [DOID:3919, NCIT:C41248] synonym: "pancreatic serous neoplasm" EXACT [NCIT:C41248] xref: DOID:3919 {source="MONDO:equivalentTo"} xref: MEDGEN:274122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -50507,7 +50509,7 @@ name: main bronchus cancer def: "A malignant neoplasm involving the main bronchus." [https://orcid.org/0000-0002-6601-2165] synonym: "Ca main bronchus" EXACT [DOID:3924] synonym: "cancer of main bronchus" EXACT [MONDO:patterns/cancer] -synonym: "main bronchus cancer" EXACT [MONDO:patterns/location] +synonym: "main bronchus cancer" EXACT [DOID:3924, MONDO:patterns/location] synonym: "malignant main bronchus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of main bronchus" EXACT [DOID:3924, ICD9CM:162.2, MONDO:patterns/cancer] xref: DOID:3924 {source="MONDO:equivalentTo"} @@ -50531,10 +50533,10 @@ name: infectious otitis interna def: "Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology." [NCIT:C27339] subset: otar {source="MONDO:OTAR"} synonym: "infectious labyrinthitis" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "infectious otitis interna" EXACT [NCIT:C27339] -synonym: "inner Ear infection" EXACT [NCIT:C27339] -synonym: "inner ear infection" EXACT [DOID:3930] -synonym: "internal Ear infection" EXACT [NCIT:C27339] +synonym: "infectious otitis interna" EXACT [] +synonym: "inner Ear infection" EXACT [] +synonym: "inner ear infection" EXACT [] +synonym: "internal Ear infection" EXACT [] xref: MEDGEN:217000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27339 {source="MONDO:equivalentObsolete"} xref: UMLS:C1168225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:217000"} @@ -50549,16 +50551,16 @@ def: "A malignant mesenchymal neoplasm arising from adipocytes." [NCIT:C4501] subset: otar {source="MONDO:OTAR"} synonym: "adipose tissue cancer" EXACT [MONDO:patterns/location] synonym: "cancer of adipose tissue" EXACT [MONDO:patterns/cancer] -synonym: "malignant adipose tissue neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4501] -synonym: "malignant adipose tissue tumor" EXACT [NCIT:C4501] +synonym: "malignant adipose tissue neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant adipose tissue tumor" EXACT [] synonym: "malignant adipose tissue tumour" EXACT OMO:0003005 [] -synonym: "malignant lipomatous neoplasm" EXACT [NCIT:C4501] -synonym: "malignant lipomatous tumor" EXACT [NCIT:C4501] +synonym: "malignant lipomatous neoplasm" EXACT [] +synonym: "malignant lipomatous tumor" EXACT [] synonym: "malignant lipomatous tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of adipose tissue" EXACT [MONDO:patterns/cancer, NCIT:C4501] -synonym: "malignant neoplasm of the adipose tissue" EXACT [NCIT:C4501] -synonym: "malignant tumor of adipose tissue" EXACT [DOID:3939, NCIT:C4501] -synonym: "malignant tumor of the adipose tissue" EXACT [NCIT:C4501] +synonym: "malignant neoplasm of adipose tissue" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of the adipose tissue" EXACT [] +synonym: "malignant tumor of adipose tissue" EXACT [] +synonym: "malignant tumor of the adipose tissue" EXACT [] synonym: "malignant tumour of adipose tissue" EXACT OMO:0003005 [] synonym: "malignant tumour of the adipose tissue" EXACT OMO:0003005 [] xref: DOID:3939 {source="MONDO:equivalentObsolete"} @@ -50578,7 +50580,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adrenal gland carcinoma" EXACT [MONDO:patterns/location] synonym: "carcinoma of adrenal gland" EXACT [MONDO:patterns/carcinoma] -synonym: "carcinoma of the adrenal gland" EXACT [DOID:3950, NCIT:C9324] +synonym: "carcinoma of the adrenal gland" EXACT [DOID:3950] xref: DOID:3950 {source="MONDO:equivalentTo"} xref: SCTID:255035007 {source="MONDO:relatedTo", source="DOID:3950"} is_a: MONDO:0002817 {source="DOID:3950", source="MONDO:Entailed", source="MONDO:Redundant"} ! adrenal gland cancer @@ -50617,7 +50619,7 @@ id: MONDO:0002816 name: adrenal cortex disorder def: "A disease involving the adrenal cortex." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "adrenal cortex disease" EXACT [MONDO:patterns/location] +synonym: "adrenal cortex disease" EXACT [DOID:3952, MONDO:patterns/location] synonym: "adrenal cortex disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of adrenal cortex" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of adrenal cortex" EXACT [] @@ -50639,9 +50641,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adrenal cancer" EXACT [DOID:3953, NCIT:C9338] -synonym: "adrenal gland cancer" EXACT [MONDO:patterns/location] -synonym: "adrenal neoplasm" BROAD [DOID:3953] +synonym: "adrenal cancer" EXACT [DOID:3953] +synonym: "adrenal gland cancer" EXACT [DOID:3953, MONDO:patterns/location] +synonym: "adrenal neoplasm" BROAD [] synonym: "cancer of adrenal gland" EXACT [MONDO:patterns/cancer] synonym: "malignant adrenal gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9338] synonym: "malignant adrenal gland tumor" EXACT [NCIT:C9338] @@ -50655,8 +50657,8 @@ synonym: "malignant tumor of adrenal gland" EXACT [NCIT:C9338] synonym: "malignant tumor of the adrenal gland" EXACT [NCIT:C9338] synonym: "malignant tumour of adrenal gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the adrenal gland" EXACT OMO:0003005 [] -synonym: "neoplasm of adrenal gland" BROAD EXCLUDE [DOID:3953] -synonym: "tumor of the adrenal gland" BROAD [DOID:3953, NCIT:C2859] +synonym: "neoplasm of adrenal gland" BROAD EXCLUDE [] +synonym: "tumor of the adrenal gland" BROAD [] synonym: "tumour of the adrenal gland" BROAD OMO:0003005 [] xref: DOID:3953 {source="MONDO:equivalentTo"} xref: ICD10CM:C74 {source="DOID:3953"} @@ -50704,8 +50706,8 @@ name: trabecular follicular adenocarcinoma subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "follicular adenocarcinoma, trabecular" EXACT [DOID:3964] -synonym: "follicular adenocarcinoma, trabecular (morphologic abnormality)" EXACT [DOID:3964] -synonym: "trabecular follicular carcinoma" EXACT [DOID:3964, NCIT:C7385] +synonym: "follicular adenocarcinoma, trabecular (morphologic abnormality)" EXACT [] +synonym: "trabecular follicular carcinoma" EXACT [DOID:3964] xref: DOID:3964 {source="MONDO:equivalentTo"} xref: MEDGEN:569646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:72174007 {source="DOID:3964"} @@ -50716,10 +50718,10 @@ is_a: MONDO:0005034 {source="DOID:3964"} ! thyroid gland follicular carcinoma id: MONDO:0002822 name: trabecular adenocarcinoma def: "A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern." [NCIT:C4068] -synonym: "Merkel cell carcinoma" RELATED [DOID:3965] +synonym: "Merkel cell carcinoma" RELATED [] synonym: "trabecula adenocarcinoma" EXACT [] -synonym: "trabecular adenocarcinoma" EXACT [NCIT:C4068] -synonym: "trabecular adenocarcinoma (morphologic abnormality)" EXACT [DOID:3965] +synonym: "trabecular adenocarcinoma" EXACT [DOID:3965, NCIT:C4068] +synonym: "trabecular adenocarcinoma (morphologic abnormality)" EXACT [] synonym: "trabecular carcinoma" EXACT [DOID:3965, NCIT:C4068] xref: DOID:3965 {source="MONDO:equivalentTo"} xref: ICDO:8190/3 {source="NCIT:C4068"} @@ -50779,7 +50781,7 @@ def: "A rare carcinoma that arises from the Bartholin gland and is characterized subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Bartholin gland transitional cell carcinoma" EXACT [DOID:3998, NCIT:C40297] -synonym: "Bartholin's gland transitional cell carcinoma" EXACT [NCIT:C40297] +synonym: "Bartholin's gland transitional cell carcinoma" EXACT [DOID:3998, NCIT:C40297] synonym: "major vestibular gland transitional cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:3998 {source="MONDO:equivalentTo"} xref: MEDGEN:267340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -50800,8 +50802,8 @@ subset: rare synonym: "Bartholin gland cancer" EXACT [NCIT:C9055] synonym: "bartholin gland carcinoma" EXACT [DOID:3999, MONDO:ambiguous, NCIT:C9055] synonym: "Bartholin gland carcinoma (disease)" EXACT [MONDO:0006100] -synonym: "Bartholin's gland cancer" EXACT [DOID:3999, NCIT:C9055] -synonym: "Bartholin's gland carcinoma" EXACT [NCIT:C9055] +synonym: "Bartholin's gland cancer" EXACT [DOID:60003, NCIT:C9055] +synonym: "Bartholin's gland carcinoma" EXACT [DOID:3999, NCIT:C9055] synonym: "carcinoma of Bartholin's gland" EXACT [DOID:3999, NCIT:C9055] synonym: "carcinoma of major vestibular gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the Bartholin's gland" EXACT [NCIT:C9055] @@ -50835,12 +50837,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cylindrical cell carcinoma" EXACT [DOID:4003] synonym: "non-keratinizing sinonasal squamous cell carcinoma" EXACT [NCIT:C54287] -synonym: "Ringertz carcinoma" RELATED [NCIT:C54287] -synonym: "Schneiderian carcinoma" RELATED [NCIT:C54287] -synonym: "Sinonasal cylindrical cell carcinoma" RELATED [NCIT:C54287] -synonym: "Sinonasal Schneiderian carcinoma" RELATED [NCIT:C54287] +synonym: "Ringertz carcinoma" RELATED [] +synonym: "Schneiderian carcinoma" RELATED [] +synonym: "Sinonasal cylindrical cell carcinoma" RELATED [] +synonym: "Sinonasal Schneiderian carcinoma" RELATED [] synonym: "sinonasal squamous cell carcinoma" RELATED [ONCOTREE:SNSC] -synonym: "Sinonasal transitional cell carcinoma" RELATED [NCIT:C54287] +synonym: "Sinonasal transitional cell carcinoma" RELATED [] xref: DOID:4003 {source="MONDO:equivalentTo"} xref: ICDO:8121/3 {source="NCIT:C54287"} xref: MEDGEN:83119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -50857,7 +50859,7 @@ name: endometrial transitional cell carcinoma def: "A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells." [NCIT:C40154] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "endometrial transitional cell carcinoma" EXACT [NCIT:C40154] +synonym: "endometrial transitional cell carcinoma" EXACT [DOID:4005, NCIT:C40154] xref: DOID:4005 {source="MONDO:equivalentTo"} xref: MEDGEN:273232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40154 {source="DOID:4005", source="MONDO:equivalentTo"} @@ -50872,7 +50874,7 @@ def: "A rare transitional cell carcinoma that arises from the fallopian tube." [ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "fallopian tube transitional cell cancer" EXACT [NCIT:C40104] -synonym: "fallopian tube transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C40104] +synonym: "fallopian tube transitional cell carcinoma" EXACT [DOID:4008, MONDO:patterns/location, NCIT:C40104] xref: DOID:4008 {source="MONDO:equivalentTo"} xref: MEDGEN:274492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40104 {source="DOID:4008", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -50891,9 +50893,9 @@ subset: rare synonym: "primary prostate urothelial cancer" EXACT [NCIT:C39898] synonym: "primary prostate urothelial carcinoma" EXACT [NCIT:C39898] synonym: "prostate gland transitional cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "prostate transitional cell carcinoma" EXACT [NCIT:C39898] +synonym: "prostate transitional cell carcinoma" EXACT [DOID:4011, NCIT:C39898] synonym: "prostate urothelial carcinoma" EXACT [NCIT:C39898] -synonym: "transitional cell carcinoma of prostate" EXACT [DOID:4011, NCIT:C39898, NCIT:C5540] +synonym: "transitional cell carcinoma of prostate" EXACT [DOID:4011, NCIT:C39898] synonym: "transitional cell carcinoma of the prostate" EXACT [NCIT:C39898] xref: DOID:4011 {source="MONDO:equivalentTo"} xref: MEDGEN:271382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -50920,7 +50922,7 @@ subset: rare synonym: "transitional cell carcinoma of the urethra" EXACT [NCIT:C6166] synonym: "transitional cell carcinoma of urethra" EXACT [NCIT:C6166] synonym: "UCU" RELATED ABBREVIATION [ONCOTREE:UCU] -synonym: "urethra transitional cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "urethra transitional cell carcinoma" EXACT [DOID:4013, MONDO:patterns/location, NCIT:C6166] synonym: "urethral transitional cell carcinoma" EXACT [DOID:4013, NCIT:C6166] synonym: "urethral urothelial cancer" EXACT [NCIT:C6166] synonym: "urethral urothelial carcinoma" EXACT [NCIT:C6166] @@ -50942,8 +50944,8 @@ name: sarcomatoid transitional cell carcinoma def: "A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features." [NCIT:C4120] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "sarcomatoid transitional cell carcinoma" EXACT [NCIT:C4120] -synonym: "transitional cell carcinoma, sarcomatoid" EXACT [DOID:4014] +synonym: "sarcomatoid transitional cell carcinoma" EXACT [DOID:4014, NCIT:C4120] +synonym: "transitional cell carcinoma, sarcomatoid" EXACT [DOID:4014, NCIT:C4120] synonym: "transitional cell spindle cell carcinoma" EXACT [NCIT:C4120] synonym: "transitional spindle cell carcinoma" EXACT [DOID:4014, NCIT:C4120] xref: DOID:4014 {source="MONDO:equivalentTo"} @@ -50977,7 +50979,7 @@ def: "An eosinophilic gastroenteritis that is characterized by inflammation of t subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "eosinophilic gastritis" EXACT [NCIT:C27052] +synonym: "eosinophilic gastritis" EXACT [DOID:4030, icd11.foundation:1944772274, NCIT:C27052] xref: DOID:4030 {source="MONDO:equivalentTo"} xref: icd11.foundation:1944772274 {source="MONDO:equivalentTo"} xref: ICD9:535.40 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -51005,7 +51007,7 @@ name: bacterial gastritis def: "Gastritis resulting from bacteria." [NCIT:C27340] synonym: "Bacteria caused gastritis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteria gastritis (disease)" EXACT [] -synonym: "bacterial gastritis" EXACT [NCIT:C27340] +synonym: "bacterial gastritis" EXACT [DOID:4033, NCIT:C27340] xref: DOID:4033 {source="MONDO:equivalentTo"} xref: MEDGEN:182680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27340 {source="MONDO:equivalentTo", source="DOID:4033"} @@ -51021,7 +51023,7 @@ intersection_of: disease_has_inflammation_site UBERON:0000945 ! stomach id: MONDO:0002843 name: fungal gastritis def: "Gastritis resulting from fungi." [NCIT:C27342] -synonym: "fungal gastritis" EXACT [NCIT:C27342] +synonym: "fungal gastritis" EXACT [DOID:4034, NCIT:C27342] synonym: "Fungi caused gastritis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Fungi gastritis (disease)" EXACT [] xref: DOID:4034 {source="MONDO:equivalentTo"} @@ -51038,7 +51040,7 @@ intersection_of: disease_has_inflammation_site UBERON:0000945 ! stomach [Term] id: MONDO:0002844 name: lymphocytic gastritis -synonym: "lymphocytic gastritis" EXACT [NCIT:C27051] +synonym: "lymphocytic gastritis" EXACT [DOID:4035, icd11.foundation:2052188597, NCIT:C27051] xref: DOID:4035 {source="MONDO:equivalentTo"} xref: icd11.foundation:2052188597 {source="MONDO:equivalentTo"} xref: ICD9:535.40 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -51053,7 +51055,7 @@ is_a: MONDO:0004966 {source="DOID:4035", source="NCIT:C27051", source="icd11.fou id: MONDO:0002845 name: necrotizing gastritis def: "A variant of phlegmonous gastritis, typically progressing to gastric gangrene." [NCIT:P378] -synonym: "necrotizing gastritis" EXACT [NCIT:C27329] +synonym: "necrotizing gastritis" EXACT [DOID:4037, NCIT:C27329] xref: DOID:4037 {source="MONDO:equivalentTo"} xref: MEDGEN:209092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27329 {source="DOID:4037", source="MONDO:equivalentTo"} @@ -51064,7 +51066,7 @@ is_a: MONDO:0004966 {source="DOID:4037", source="NCIT:C27329"} ! gastritis id: MONDO:0002846 name: granulomatous gastritis def: "Gastritis that is associated with the presence of granulomas." [NCIT:C27348] -synonym: "granulomatous gastritis" EXACT [NCIT:C27348] +synonym: "granulomatous gastritis" EXACT [DOID:4038, NCIT:C27348] xref: DOID:4038 {source="MONDO:equivalentTo"} xref: ICD10CM:K29.6 {source="DOID:4038"} xref: MEDGEN:207272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -51110,7 +51112,7 @@ subset: rare synonym: "neoplasm of skeletal muscle" EXACT [NCIT:C6514] synonym: "neoplasm of skeletal muscle tissue" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the skeletal muscle" EXACT [NCIT:C6514] -synonym: "skeletal muscle neoplasm" EXACT [NCIT:C6514] +synonym: "skeletal muscle neoplasm" EXACT [DOID:4044, NCIT:C6514] synonym: "skeletal muscle tissue neoplasm" EXACT [] synonym: "skeletal muscle tissue neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "skeletal muscle tissue tumor" EXACT [MONDO:patterns/neoplasm] @@ -51140,7 +51142,7 @@ def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecti subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "hepatic rhabdomyosarcoma" EXACT [NCIT:C5834] -synonym: "liver rhabdomyosarcoma" EXACT [NCIT:C5834] +synonym: "liver rhabdomyosarcoma" EXACT [DOID:4047, NCIT:C5834] synonym: "liver rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "rhabdomyosarcoma (disease) of liver" EXACT [] synonym: "rhabdomyosarcoma of liver" EXACT [DOID:4047, NCIT:C5834] @@ -51160,7 +51162,7 @@ name: central nervous system rhabdomyosarcoma def: "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system." [NCIT:C5464] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "central nervous system rhabdomyosarcoma" EXACT [NCIT:C5464] +synonym: "central nervous system rhabdomyosarcoma" EXACT [DOID:4048, NCIT:C5464] synonym: "central nervous system rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "CNS rhabdomyosarcoma" EXACT [NCIT:C5464] synonym: "rhabdomyosarcoma (disease) of central nervous system" EXACT [] @@ -51204,7 +51206,7 @@ def: "A rare sarcoma that arises from the mediastinum. Examples include liposarc subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "mediastinal sarcoma" EXACT [NCIT:C6606] -synonym: "mediastinum sarcoma" EXACT [MONDO:patterns/location] +synonym: "mediastinum sarcoma" EXACT [DOID:4050, MONDO:patterns/location] synonym: "sarcoma of mediastinum" EXACT [DOID:4050, MONDO:patterns/sarcoma, NCIT:C6606] synonym: "sarcoma of the mediastinum" EXACT [NCIT:C6606] xref: DOID:4050 {source="MONDO:equivalentTo"} @@ -51247,7 +51249,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "prostate gland sarcoma" EXACT [MONDO:patterns/location] -synonym: "prostate sarcoma" EXACT [NCIT:C7731] +synonym: "prostate sarcoma" EXACT [DOID:4054, NCIT:C7731] synonym: "sarcoma of prostate" EXACT [NCIT:C7731] synonym: "sarcoma of prostate gland" EXACT [MONDO:patterns/sarcoma] synonym: "sarcoma of the prostate" EXACT [DOID:4054, NCIT:C7731] @@ -51266,10 +51268,10 @@ id: MONDO:0002855 name: ectomesenchymoma def: "An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component." [NCIT:C4716] subset: otar {source="MONDO:OTAR"} -synonym: "ectomesenchymoma" EXACT [NCIT:C4716] +synonym: "ectomesenchymoma" EXACT [DOID:4055, NCIT:C4716] synonym: "malignant ectomesenchymoma" EXACT [NCIT:C4716] synonym: "rhabdomyosarcoma with ganglionic differentiation" EXACT [DOID:4055] -synonym: "rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)" EXACT [DOID:4055] +synonym: "rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality)" EXACT [] synonym: "sarcoma with ganglionic or neuroectodermal differentiation" EXACT [NCIT:C4716] xref: DOID:4055 {source="MONDO:equivalentTo"} xref: ICDO:8921/3 {source="NCIT:C4716"} @@ -51290,7 +51292,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "gall bladder rhabdomyosarcoma" EXACT [] synonym: "gall bladder rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] -synonym: "gallbladder rhabdomyosarcoma" EXACT [NCIT:C5839] +synonym: "gallbladder rhabdomyosarcoma" EXACT [DOID:4057, NCIT:C5839] synonym: "rhabdomyosarcoma (disease) of gall bladder" EXACT [] synonym: "rhabdomyosarcoma of gallbladder" EXACT [NCIT:C5839] synonym: "rhabdomyosarcoma of the gallbladder" EXACT [DOID:4057, NCIT:C5839] @@ -51310,8 +51312,8 @@ def: "A malignant soft tissue neoplasm that arises from the gallbladder. Represe subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "gall bladder sarcoma" EXACT [MONDO:patterns/location] -synonym: "gallbladder sarcoma" EXACT [NCIT:C5736] -synonym: "malignant mesenchymal tumor of gallbladder" EXACT [DOID:4058, NCIT:C5736] +synonym: "gallbladder sarcoma" EXACT [DOID:4058, NCIT:C5736] +synonym: "malignant mesenchymal tumor of gallbladder" EXACT [DOID:4058] synonym: "malignant mesenchymal tumour of gallbladder" EXACT OMO:0003005 [] synonym: "sarcoma of gall bladder" EXACT [MONDO:patterns/sarcoma] synonym: "sarcoma of gallbladder" EXACT [NCIT:C5736] @@ -51353,7 +51355,7 @@ name: breast rhabdomyosarcoma def: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast." [NCIT:C5190] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "breast rhabdomyosarcoma" EXACT [NCIT:C5190] +synonym: "breast rhabdomyosarcoma" EXACT [DOID:4060, NCIT:C5190] synonym: "breast rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "rhabdomyosarcoma (disease) of breast" EXACT [] synonym: "rhabdomyosarcoma of breast" EXACT [NCIT:C5190] @@ -51397,7 +51399,7 @@ subset: rare synonym: "sarcoma of testis" EXACT [DOID:4062, MONDO:patterns/sarcoma, NCIT:C6359] synonym: "sarcoma of the testis" EXACT [NCIT:C6359] synonym: "testicular sarcoma" EXACT [NCIT:C6359] -synonym: "testis sarcoma" EXACT [MONDO:patterns/location] +synonym: "testis sarcoma" EXACT [DOID:4062, MONDO:patterns/location] xref: DOID:4062 {source="MONDO:equivalentTo"} xref: MEDGEN:234943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6359 {source="MONDO:equivalentTo", source="DOID:4062"} @@ -51414,7 +51416,7 @@ name: bile duct sarcoma def: "A sarcoma that involves the bile duct." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "bile duct sarcoma" EXACT [MONDO:patterns/location] +synonym: "bile duct sarcoma" EXACT [DOID:4064, MONDO:patterns/location] synonym: "sarcoma of bile duct" EXACT [MONDO:patterns/sarcoma] synonym: "sarcoma of the bile duct" EXACT [DOID:4064] xref: DOID:4064 {source="MONDO:equivalentTo"} @@ -51435,7 +51437,7 @@ subset: rare synonym: "mixed alveolar rhabdomyosarcoma" EXACT [NCIT:C4259] synonym: "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" EXACT [DOID:4065] synonym: "mixed type alveolar rhabdomyosarcoma" EXACT [NCIT:C4259] -synonym: "mixed type rhabdomyosarcoma" EXACT [DOID:4065, NCIT:C4259] +synonym: "mixed type rhabdomyosarcoma" EXACT [DOID:4065] synonym: "rhabdomyosarcoma with mixed embryonal and alveolar features" EXACT [NCIT:C4259] xref: DOID:4065 {source="MONDO:equivalentTo"} xref: ICDO:8902/3 {source="NCIT:C4259"} @@ -51471,7 +51473,7 @@ def: "A malignant soft tissue neoplasm arising from the anus. Representative exa subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "anal sarcoma" EXACT [NCIT:C5611] -synonym: "anus sarcoma" EXACT [MONDO:patterns/location] +synonym: "anus sarcoma" EXACT [DOID:4067, MONDO:patterns/location] synonym: "sarcoma of anus" EXACT [DOID:4067, MONDO:patterns/sarcoma, NCIT:C5611] synonym: "sarcoma of the anus" EXACT [NCIT:C5611] xref: DOID:4067 {source="MONDO:equivalentTo"} @@ -51491,7 +51493,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of duodenum" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of duodenum" EXACT [] synonym: "disorder of duodenum" EXACT [MONDO:patterns/location_top] -synonym: "duodenum disease" EXACT [MONDO:patterns/location] +synonym: "duodenum disease" EXACT [DOID:4072, MONDO:patterns/location] synonym: "duodenum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "duodenum disorder" EXACT [DOID:4072] xref: DOID:4072 {source="MONDO:equivalentTo"} @@ -51511,11 +51513,11 @@ intersection_of: disease_has_location UBERON:0002114 ! duodenum id: MONDO:0002867 name: pancreatic cystadenocarcinoma def: "A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes." [NCIT:C3874] -synonym: "cystadenocarcinoma - pancreas" EXACT [NCIT:C3874] -synonym: "cystadenocarcinoma of pancreas" EXACT [NCIT:C3874] +synonym: "cystadenocarcinoma - pancreas" EXACT [] +synonym: "cystadenocarcinoma of pancreas" EXACT [DOID:4073, NCIT:C3874] synonym: "cystadenocarcinoma of the pancreas" EXACT [NCIT:C3874] synonym: "pancreas cystadenocarcinoma" EXACT [MONDO:patterns/location] -synonym: "pancreatic cystadenocarcinoma" EXACT [NCIT:C3874] +synonym: "pancreatic cystadenocarcinoma" EXACT [DOID:4073, NCIT:C3874] xref: DOID:4073 {source="MONDO:equivalentTo"} xref: MEDGEN:66767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3874 {source="MONDO:equivalentTo", source="DOID:4073"} @@ -51531,10 +51533,10 @@ id: MONDO:0002868 name: bile duct mucinous cystic neoplasm with an associated invasive carcinoma def: "A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component." [NCIT:C4130] comment: Editor note: adenocarcinoma and adenoma are disjoint in MONDO, we represent carcinoma as a distinct component -synonym: "bile duct cystadenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4130] -synonym: "bile duct cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:4075] +synonym: "bile duct cystadenocarcinoma" EXACT [DOID:4075, MONDO:patterns/location, NCIT:C4130] +synonym: "bile duct cystadenocarcinoma (morphologic abnormality)" EXACT [] synonym: "bile duct mucinous cystic neoplasm with an associated invasive carcinoma" EXACT [NCIT:C4130] -synonym: "biliary cystadenocarcinoma" BROAD [DOID:4075, NCIT:C4130] +synonym: "biliary cystadenocarcinoma" BROAD [] synonym: "cystadenocarcinoma of bile duct" EXACT [NCIT:C4130] synonym: "cystadenocarcinoma of the bile duct" EXACT [NCIT:C4130] xref: DOID:4075 {source="MONDO:equivalentTo"} @@ -51583,11 +51585,11 @@ intersection_of: disease_has_location UBERON:0000946 ! cardiac valve id: MONDO:0002870 name: tricuspid valve insufficiency def: "The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve." [NCIT:P378] -synonym: "insufficiency, tricuspid" EXACT [NCIT:C50842] +synonym: "insufficiency, tricuspid" EXACT [] synonym: "tricuspid incompetence" EXACT [DOID:4080] synonym: "tricuspid insufficiency" EXACT [NCIT:C50842] synonym: "tricuspid regurgitation" EXACT [DOID:4080] -synonym: "tricuspid valve regurgitation" EXACT [DOID:4080] +synonym: "tricuspid valve regurgitation" EXACT [DOID:4080, icd11.foundation:770887951] xref: DOID:4080 {source="MONDO:equivalentTo"} xref: icd11.foundation:770887951 {source="MONDO:equivalentTo"} xref: MEDGEN:11911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -51610,7 +51612,7 @@ name: testicular trophoblastic tumor def: "A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas." [NCIT:C39934] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "testicular trophoblastic tumor" EXACT [NCIT:C39934] +synonym: "testicular trophoblastic tumor" EXACT [DOID:4084, NCIT:C39934] xref: DOID:4084 {source="MONDO:equivalentTo"} xref: MEDGEN:272844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39934 {source="MONDO:equivalentTo", source="DOID:4084", source="MONDO:exact-label-match"} @@ -51631,12 +51633,12 @@ synonym: "trophoblast neoplasm" EXACT [] synonym: "trophoblast neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "trophoblast tumor" EXACT [MONDO:patterns/neoplasm] synonym: "trophoblast tumour" EXACT OMO:0003005 [] -synonym: "trophoblastic neoplasm" EXACT [NCIT:C3422] -synonym: "trophoblastic neoplasm (morphologic abnormality)" EXACT [DOID:4085] -synonym: "trophoblastic neoplasm NOS (morphologic abnormality)" EXACT [DOID:4085] +synonym: "trophoblastic neoplasm" EXACT [DOID:4085, NCIT:C3422] +synonym: "trophoblastic neoplasm (morphologic abnormality)" EXACT [] +synonym: "trophoblastic neoplasm NOS (morphologic abnormality)" EXACT [] synonym: "trophoblastic neoplasms" EXACT [NCIT:C3422] synonym: "trophoblastic tumor" EXACT [DOID:4085, NCIT:C3422] -synonym: "trophoblastic tumor (qualifier value)" EXACT [DOID:4085] +synonym: "trophoblastic tumor (qualifier value)" EXACT [] synonym: "trophoblastic tumour" EXACT OMO:0003005 [] synonym: "trophoblastic tumour (qualifier value)" EXACT OMO:0003005 [] synonym: "tumor of trophoblast" EXACT [MONDO:patterns/neoplasm] @@ -51666,7 +51668,7 @@ name: testicular pure germ cell tumor def: "A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor." [NCIT:C39915] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "testicular Pure germ cell tumor" EXACT [NCIT:C39915] +synonym: "testicular Pure germ cell tumor" EXACT [DOID:4087, NCIT:C39915] synonym: "testicular Pure germ cell tumour" EXACT OMO:0003005 [] xref: DOID:4087 {source="MONDO:equivalentTo"} xref: MEDGEN:308089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -51700,9 +51702,9 @@ subset: ordo_disorder {source="Orphanet:213792"} subset: orphanet_rare {source="Orphanet:213792"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenosarcoma of the cervix uteri" EXACT [MONDO:0016279] +synonym: "adenosarcoma of the cervix uteri" EXACT [MONDO:0016279, Orphanet:213792] synonym: "adenosarcoma of uterine cervix" EXACT [MONDO:design_pattern] -synonym: "cervical adenosarcoma" EXACT [NCIT:C40229, Orphanet:213792] +synonym: "cervical adenosarcoma" EXACT [DOID:4111, NCIT:C40229, Orphanet:213792] synonym: "cervical Muellerian adenosarcoma" EXACT [DOID:4111] synonym: "cervical Mullerian adenosarcoma" EXACT [DOID:4111, NCIT:C40229] synonym: "cervical Müllerian adenosarcoma" EXACT [NCIT:C40229] @@ -51733,8 +51735,8 @@ subset: ordo_disorder {source="Orphanet:213787"} subset: orphanet_rare {source="Orphanet:213787"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinosarcoma of the cervix uteri" EXACT [MONDO:0016278] -synonym: "cervical carcinosarcoma" EXACT [NCIT:C36097, Orphanet:213787] +synonym: "carcinosarcoma of the cervix uteri" EXACT [MONDO:0016278, Orphanet:213787] +synonym: "cervical carcinosarcoma" EXACT [DOID:4112, NCIT:C36097, Orphanet:213787] synonym: "cervical malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C36097] synonym: "cervical malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 [] synonym: "cervical malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C36097] @@ -51743,12 +51745,12 @@ synonym: "cervical malignant mixed mesodermal mullerian tumor" EXACT [DOID:4112] synonym: "cervical malignant mixed mesodermal mullerian tumour" EXACT OMO:0003005 [] synonym: "cervical malignant mixed Mullerian tumor" EXACT [DOID:4112] synonym: "cervical malignant mixed Mullerian tumour" EXACT OMO:0003005 [] -synonym: "cervical malignant Mullerian mixed tumor" EXACT [Orphanet:213787] +synonym: "cervical malignant Mullerian mixed tumor" EXACT [] synonym: "cervical malignant Mullerian mixed tumour" EXACT OMO:0003005 [] synonym: "cervical malignant Müllerian mixed tumor" EXACT [Orphanet:213787] synonym: "cervical malignant Müllerian mixed tumour" EXACT OMO:0003005 [] synonym: "cervical mixed epithelial and mesenchymal neoplasm" EXACT [DOID:4112] -synonym: "malignant Mullerian mixed tumor of the cervix uteri" EXACT [Orphanet:213787] +synonym: "malignant Mullerian mixed tumor of the cervix uteri" EXACT [] synonym: "malignant Mullerian mixed tumour of the cervix uteri" EXACT OMO:0003005 [] synonym: "malignant Müllerian mixed tumor of the cervix uteri" EXACT [Orphanet:213787] synonym: "malignant Müllerian mixed tumour of the cervix uteri" EXACT OMO:0003005 [] @@ -51781,18 +51783,18 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenosarcoma of body of uterus" EXACT [NCIT:C6336] synonym: "adenosarcoma of the body of uterus" EXACT [NCIT:C6336] -synonym: "adenosarcoma of the corpus uteri" EXACT [MONDO:0016257] +synonym: "adenosarcoma of the corpus uteri" EXACT [MONDO:0016257, Orphanet:213600] synonym: "adenosarcoma of the uterine body" EXACT [NCIT:C6336] synonym: "adenosarcoma of the uterine corpus" EXACT [NCIT:C6336] synonym: "adenosarcoma of the uterus" RELATED [GARD:0009636] synonym: "adenosarcoma of uterine body" EXACT [NCIT:C6336] -synonym: "adenosarcoma of uterine corpus" EXACT [DOID:4113, NCIT:C6336] +synonym: "adenosarcoma of uterine corpus" EXACT [NCIT:C6336] synonym: "body of uterus adenosarcoma" EXACT [MONDO:patterns/location, NCIT:C6336] synonym: "Mullerian adenosarcoma of the uterus" RELATED [MESH:C538232] synonym: "uterine adenosarcoma" RELATED [MESH:C538232] synonym: "uterine body adenosarcoma" EXACT [NCIT:C6336] -synonym: "uterine corpus adenosarcoma" EXACT [NCIT:C6336] -synonym: "uterine corpus Mullerian adenosarcoma" EXACT [NCIT:C6336] +synonym: "uterine corpus adenosarcoma" EXACT [DOID:4113, NCIT:C6336] +synonym: "uterine corpus Mullerian adenosarcoma" EXACT [DOID:4113, NCIT:C6336] synonym: "uterine corpus mullerian adenosarcoma" EXACT [DOID:4113, NCIT:C6336] synonym: "uterine corpus Müllerian adenosarcoma" EXACT [NCIT:C6336] xref: DOID:4113 {source="MONDO:equivalentTo"} @@ -51873,8 +51875,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adenosarcoma of ovary" EXACT [MONDO:design_pattern] synonym: "ovarian adenosarcoma" EXACT [NCIT:C7317] -synonym: "ovarian mesodermal adenosarcoma" EXACT [NCIT:C7317] -synonym: "ovarian Mullerian adenosarcoma" EXACT [NCIT:C7317] +synonym: "ovarian mesodermal adenosarcoma" EXACT [DOID:4115, NCIT:C7317] +synonym: "ovarian Mullerian adenosarcoma" EXACT [DOID:4115, NCIT:C7317] synonym: "ovarian mullerian adenosarcoma" EXACT [DOID:4115, NCIT:C7317] synonym: "ovarian Müllerian adenosarcoma" EXACT [NCIT:C7317] synonym: "ovary adenosarcoma" EXACT [MONDO:patterns/location] @@ -51894,7 +51896,7 @@ name: vaginal adenosarcoma def: "A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component." [NCIT:C40277] synonym: "adenosarcoma of vagina" EXACT [MONDO:design_pattern] synonym: "vagina adenosarcoma" EXACT [MONDO:patterns/location] -synonym: "vaginal adenosarcoma" EXACT [NCIT:C40277] +synonym: "vaginal adenosarcoma" EXACT [DOID:4117, NCIT:C40277] synonym: "vaginal Mullerian adenosarcoma" EXACT [NCIT:C40277] synonym: "vaginal Müllerian adenosarcoma" EXACT [NCIT:C40277] xref: DOID:4117 {source="MONDO:equivalentTo"} @@ -51917,16 +51919,16 @@ subset: orphanet_rare {source="Orphanet:100080"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "colon NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] -synonym: "colon neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5697] +synonym: "colon neuroendocrine neoplasm" EXACT [DOID:4118, MONDO:patterns/location, NCIT:C5697] synonym: "colon neuroendocrine tumor" EXACT [MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "colon neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "colon neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "colonic neuroendocrine neoplasm" EXACT [NCIT:C5697] -synonym: "colonic neuroendocrine tumor" EXACT [DOID:4118, NCIT:C5697] +synonym: "colonic neuroendocrine tumor" EXACT [DOID:4118] synonym: "colonic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5697] -synonym: "neuroendocrine neoplasm of the colon" EXACT [NCIT:C5697] -synonym: "neuroendocrine tumor of the colon" RELATED [Orphanet:100080] +synonym: "neuroendocrine neoplasm of the colon" EXACT [NCIT:C5697, Orphanet:100080] +synonym: "neuroendocrine tumor of the colon" RELATED [] synonym: "neuroendocrine tumour of the colon" RELATED OMO:0003005 [] xref: DOID:4118 {source="MONDO:equivalentTo"} xref: GARD:19755 {source="MONDO:GARD"} @@ -51947,7 +51949,7 @@ def: "A neoplasm with neuroendocrine differentiation that arises from the small subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intestinal neuroendocrine benign tumor" RELATED [DOID:4119] +synonym: "intestinal neuroendocrine benign tumor" RELATED [] synonym: "intestinal neuroendocrine benign tumour" RELATED OMO:0003005 [] synonym: "intestinal neuroendocrine neoplasm" EXACT [NCIT:C5695] synonym: "intestine NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] @@ -51958,7 +51960,7 @@ synonym: "intestine neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5695] synonym: "neuroendocrine neoplasm of the intestine" EXACT [NCIT:C5695] synonym: "neuroendocrine tumor of intestine" EXACT [DOID:4119] -synonym: "neuroendocrine tumour of intestine" EXACT OMO:0003005 [] +synonym: "neuroendocrine tumour of intestine" EXACT OMO:0003005 [DOID:4119] xref: DOID:4119 {source="MONDO:equivalentTo"} xref: MEDGEN:233567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5695 {source="MONDO:equivalentTo", source="DOID:4119"} @@ -51976,7 +51978,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of nail" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of nail" EXACT [] synonym: "disorder of nail" EXACT [MONDO:patterns/location_top] -synonym: "nail disease" EXACT [MONDO:patterns/location] +synonym: "nail disease" EXACT [DOID:4123, MONDO:patterns/location] synonym: "nail disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:4123 {source="MONDO:equivalentTo"} xref: ICD10CM:L60 {source="DOID:4123"} @@ -52020,7 +52022,7 @@ is_a: MONDO:0002922 {source="DOID:4131"} ! pyoderma id: MONDO:0002886 name: common bile duct disorder def: "A disease involving the common bile duct." [https://orcid.org/0000-0002-6601-2165] -synonym: "common bile duct disease" EXACT [MONDO:patterns/location] +synonym: "common bile duct disease" EXACT [DOID:4137, MONDO:patterns/location] synonym: "common bile duct disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of common bile duct" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of common bile duct" EXACT [] @@ -52038,12 +52040,12 @@ id: MONDO:0002887 name: bile duct disorder def: "A disease involving the bile duct." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "bile duct disease" EXACT [MONDO:patterns/location] +synonym: "bile duct disease" EXACT [DOID:4138, MONDO:patterns/location] synonym: "bile duct disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "bile duct disorder" EXACT [NCIT:C96716] +synonym: "bile duct disorder" EXACT [DOID:4138, NCIT:C96716] synonym: "disease of bile duct" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of bile duct" EXACT [] -synonym: "disorder of bile duct" EXACT [MONDO:patterns/location_top] +synonym: "disorder of bile duct" EXACT [DOID:4138, MONDO:patterns/location_top] xref: DOID:4138 {source="MONDO:equivalentTo"} xref: MEDGEN:2240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D001649 {source="DOID:4138", source="MONDO:equivalentTo"} @@ -52062,7 +52064,7 @@ def: "A meningioma that affects the intraorbital structures." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intraorbital meningioma" EXACT [NCIT:C6778] +synonym: "intraorbital meningioma" EXACT [DOID:4141, NCIT:C6778] xref: DOID:4141 {source="MONDO:equivalentTo"} xref: MEDGEN:272773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D008579 {source="DOID:4141"} @@ -52081,7 +52083,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cancer of orbit of skull" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of orbit" EXACT [DOID:4143, ICD9CM:190.1] +synonym: "malignant neoplasm of orbit" EXACT [DOID:4143, ICD9CM:190.1, NCIT:C3562] synonym: "malignant neoplasm of orbit of skull" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the orbit" EXACT [NCIT:C3562] synonym: "malignant orbit neoplasm" EXACT [NCIT:C3562] @@ -52095,10 +52097,10 @@ synonym: "malignant tumor of orbit" EXACT [NCIT:C3562] synonym: "malignant tumor of the orbit" EXACT [NCIT:C3562] synonym: "malignant tumour of orbit" EXACT OMO:0003005 [] synonym: "malignant tumour of the orbit" EXACT OMO:0003005 [] -synonym: "neoplasm of orbit proper" BROAD [DOID:4143] +synonym: "neoplasm of orbit proper" BROAD [] synonym: "orbit cancer" EXACT [DOID:4143] synonym: "orbit of skull cancer" EXACT [MONDO:patterns/location] -synonym: "orbital tumor" BROAD [DOID:4143, NCIT:C3290] +synonym: "orbital tumor" BROAD [] synonym: "orbital tumour" BROAD OMO:0003005 [] xref: DOID:4143 {source="MONDO:equivalentTo"} xref: EFO:0007408 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -52141,7 +52143,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "chordoma of skull base" EXACT [NCIT:C5453] synonym: "chordoma of the skull base" EXACT [DOID:4151, NCIT:C5453] -synonym: "skull base chordoma" EXACT [NCIT:C5453] +synonym: "skull base chordoma" EXACT [DOID:4151, NCIT:C5453] xref: DOID:4151 {source="MONDO:equivalentTo"} xref: MEDGEN:233448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5453 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4151"} @@ -52167,7 +52169,7 @@ subset: rare synonym: "chordoma of spinal column" EXACT [NCIT:C5156] synonym: "chordoma of spine" EXACT [DOID:4153, NCIT:C5156] synonym: "chordoma of the spinal column" EXACT [NCIT:C5156] -synonym: "spinal chordoma" EXACT [NCIT:C5156] +synonym: "spinal chordoma" EXACT [DOID:4153, NCIT:C5156] synonym: "spinal Chordomas" EXACT [NCIT:C5156] synonym: "spinal column chordoma" EXACT [NCIT:C5156] xref: DOID:4153 {source="MONDO:equivalentTo"} @@ -52241,9 +52243,9 @@ synonym: "malignant tumour of skin" EXACT OMO:0003005 [] synonym: "malignant tumour of the skin" EXACT OMO:0003005 [] synonym: "malignant zone of skin neoplasm" EXACT [MONDO:patterns/cancer] synonym: "melanoma and non-melanoma skin cancer" EXACT [DOID:4159, NCIT:C2920] -synonym: "skin cancer" EXACT [NCIT:C2920] +synonym: "skin cancer" EXACT [DOID:4159, NCIT:C2920] synonym: "skin cancer, Including melanoma" EXACT [NCIT:C2920] -synonym: "skin cancer, NOS" RELATED EXCLUDE [NCIT:C2920] +synonym: "skin cancer, NOS" RELATED EXCLUDE [] synonym: "skin neoplasm, malignant" EXACT [NCIT:C2920] synonym: "zone of skin cancer" EXACT [MONDO:patterns/location] xref: DOID:4159 {source="MONDO:equivalentTo"} @@ -52270,7 +52272,7 @@ name: differentiating neuroblastoma def: "A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells." [NCIT:C42048] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "differentiating neuroblastoma" EXACT [NCIT:C42048] +synonym: "differentiating neuroblastoma" EXACT [DOID:4160, NCIT:C42048] xref: DOID:4160 {source="MONDO:equivalentTo"} xref: MEDGEN:268734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C42048 {source="MONDO:equivalentTo", source="DOID:4160", source="MONDO:exact-label-match"} @@ -52283,9 +52285,9 @@ name: cerebral neuroblastoma def: "A neuroblastoma arising from the cerebral hemispheres." [NCIT:C4826] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "central nervous system neuroblastoma" EXACT [NCIT:C4826] +synonym: "central nervous system neuroblastoma" EXACT [DOID:0080905, NCIT:C4826] synonym: "cerebral hemispheric neuroblastoma" EXACT [NCIT:C4826] -synonym: "cerebral neuroblastoma" EXACT [NCIT:C4826] +synonym: "cerebral neuroblastoma" EXACT [DOID:4164, NCIT:C4826] synonym: "cerebral neuroblastoma, PNET" EXACT [NCIT:C4826] synonym: "neuroblastoma of brain" EXACT [DOID:4164] synonym: "neuroblastoma of cerebral hemispheres" EXACT [NCIT:C4826] @@ -52330,7 +52332,7 @@ id: MONDO:0002903 name: articulation disorder def: "A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants)." [NCIT:C92564] synonym: "articulation impairment" EXACT [DOID:4186] -synonym: "phonological disorder" EXACT [DOID:4186] +synonym: "phonological disorder" EXACT [DOID:4186, NCIT:C92564] xref: DOID:4186 {source="MONDO:equivalentTo"} xref: ICD9:315.39 xref: MEDGEN:2081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -52346,7 +52348,7 @@ is_a: MONDO:0004750 {source="MESH:D001184/inferred", source="NCIT:C92564"} ! lan id: MONDO:0002904 name: echolalia def: "A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song." [NCIT:P378] -synonym: "echolalia" EXACT [MONDO:ambiguous] +synonym: "echolalia" EXACT [DOID:4188, icd11.foundation:928818606, MONDO:ambiguous] synonym: "echolalia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4188 {source="MONDO:equivalentTo"} xref: HP:0010529 {source="MONDO:otherHierarchy"} @@ -52363,7 +52365,7 @@ property_value: IAO:0000589 "echolalia (disease)" xsd:string id: MONDO:0002905 name: mutism def: "The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis." [MESH:D009155, PMID:7959517] -synonym: "mutism" EXACT [MONDO:ambiguous] +synonym: "mutism" EXACT [DOID:4189, icd11.foundation:1275861519, MONDO:ambiguous] synonym: "mutism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4189 {source="MONDO:equivalentTo"} xref: HP:0002300 {source="MONDO:otherHierarchy"} @@ -52404,7 +52406,7 @@ id: MONDO:0002908 name: glucose metabolism disease def: "A metabolic disorder characterized by abnormal blood glucose levels." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "disorder of glucose metabolism" EXACT [NCIT:C53655] +synonym: "disorder of glucose metabolism" EXACT [DOID:4194, NCIT:C53655] synonym: "glucose metabolism disorder" EXACT [NCIT:C53655] xref: DOID:4194 {source="MONDO:equivalentTo"} xref: EFO:0009406 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -52465,7 +52467,7 @@ def: "A neuroglial tumor that arises from the brain stem." [NCIT:C8501] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brain stem glioma" EXACT [NCIT:C8501] +synonym: "brain stem glioma" EXACT [DOID:4202, NCIT:C8501] synonym: "brain stem neuroglial neoplasm" EXACT [NCIT:C8501] synonym: "brain stem neuroglial tumor" EXACT [NCIT:C8501] synonym: "brain stem neuroglial tumour" EXACT OMO:0003005 [] @@ -52474,7 +52476,7 @@ synonym: "brainstem malignant glioma" EXACT [MONDO:patterns/location] synonym: "brainstem neuroglial neoplasm" EXACT [NCIT:C8501] synonym: "brainstem neuroglial tumor" EXACT [DOID:4202, NCIT:C8501] synonym: "brainstem neuroglial tumour" EXACT OMO:0003005 [] -synonym: "diffuse brainstem glioma" EXACT [NCIT:C8501] +synonym: "diffuse brainstem glioma" EXACT [] synonym: "glioma of brain stem" EXACT [NCIT:C8501] synonym: "glioma of brainstem" EXACT [NCIT:C8501] synonym: "glioma of the brain stem" EXACT [NCIT:C8501] @@ -52497,34 +52499,34 @@ id: MONDO:0002912 name: brainstem cancer def: "A primary or metastatic malignant neoplasm that affects the brain stem." [NCIT:C3570] subset: otar {source="MONDO:OTAR"} -synonym: "brain stem cancer" RELATED [DOID:4203, GARD:0008244] +synonym: "brain stem cancer" RELATED [GARD:0008244] synonym: "brainstem cancer" EXACT [MONDO:patterns/location] synonym: "cancer of brainstem" EXACT [MONDO:patterns/cancer] -synonym: "malignant brain stem neoplasm" BROAD [NCIT:C3570] -synonym: "malignant brain stem tumor" BROAD [NCIT:C3570] +synonym: "malignant brain stem neoplasm" BROAD [] +synonym: "malignant brain stem tumor" BROAD [] synonym: "malignant brain stem tumour" BROAD OMO:0003005 [] -synonym: "malignant brainstem neoplasm" BROAD [MONDO:patterns/cancer, NCIT:C3570] -synonym: "malignant brainstem tumor" BROAD [NCIT:C3570] +synonym: "malignant brainstem neoplasm" BROAD [MONDO:patterns/cancer] +synonym: "malignant brainstem tumor" BROAD [] synonym: "malignant brainstem tumour" BROAD OMO:0003005 [] synonym: "malignant neoplasm of brain stem" EXACT [DOID:4203, NCIT:C3570] synonym: "malignant neoplasm of brainstem" EXACT [DOID:4203, MONDO:patterns/cancer, NCIT:C3570] synonym: "malignant neoplasm of the brain stem" EXACT [NCIT:C3570] synonym: "malignant neoplasm of the brainstem" EXACT [NCIT:C3570] synonym: "malignant tumor of brain stem" EXACT [NCIT:C3570] -synonym: "malignant tumor of brainstem" EXACT [DOID:4203, NCIT:C3570] +synonym: "malignant tumor of brainstem" EXACT [NCIT:C3570] synonym: "malignant tumor of the brain stem" EXACT [NCIT:C3570] synonym: "malignant tumor of the brainstem" EXACT [NCIT:C3570] synonym: "malignant tumour of brain stem" EXACT OMO:0003005 [] synonym: "malignant tumour of brainstem" EXACT OMO:0003005 [] synonym: "malignant tumour of the brain stem" EXACT OMO:0003005 [] synonym: "malignant tumour of the brainstem" EXACT OMO:0003005 [] -synonym: "neoplasm of adult brain stem" BROAD [DOID:4203] -synonym: "neoplasm of brain stem" BROAD [DOID:4203] -synonym: "primary brain stem neoplasm" BROAD [DOID:4203] -synonym: "primary brain stem tumor" BROAD [DOID:4203] +synonym: "neoplasm of adult brain stem" BROAD [] +synonym: "neoplasm of brain stem" BROAD [] +synonym: "primary brain stem neoplasm" BROAD [] +synonym: "primary brain stem tumor" BROAD [] synonym: "primary brain stem tumour" BROAD OMO:0003005 [] -synonym: "tumor of adult brainstem" BROAD EXCLUDE [DOID:4203] -synonym: "tumor of the brainstem" BROAD [DOID:4203] +synonym: "tumor of adult brainstem" BROAD EXCLUDE [] +synonym: "tumor of the brainstem" BROAD [] synonym: "tumour of adult brainstem" BROAD OMO:0003005 [] synonym: "tumour of the brainstem" BROAD OMO:0003005 [] xref: DOID:4203 {source="MONDO:equivalentTo"} @@ -52553,16 +52555,16 @@ id: MONDO:0002913 name: cerebellar neoplasm def: "A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003" [NCIT:C2935] subset: otar {source="MONDO:OTAR"} -synonym: "cerebellar cancer" RELATED EXCLUDE [DOID:4205] +synonym: "cerebellar cancer" RELATED EXCLUDE [] synonym: "cerebellar neoplasm" EXACT [NCIT:C2935] synonym: "cerebellar tumor" EXACT [NCIT:C2935] synonym: "cerebellar tumour" EXACT OMO:0003005 [] -synonym: "cerebellum cancer" RELATED [DOID:4205] +synonym: "cerebellum cancer" RELATED [] synonym: "cerebellum neoplasm" EXACT [] synonym: "cerebellum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "cerebellum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "cerebellum tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of cerebellum" NARROW [DOID:4205, NCIT:C3569] +synonym: "malignant tumor of cerebellum" NARROW [] synonym: "malignant tumour of cerebellum" NARROW OMO:0003005 [] synonym: "neoplasm of cerebellum" EXACT [MONDO:patterns/neoplasm, NCIT:C2935] synonym: "neoplasm of the cerebellum" EXACT [NCIT:C2935] @@ -52595,7 +52597,7 @@ def: "A neoplasm that affects the brain stem and occurs during childhood." [NCIT subset: otar {source="MONDO:OTAR"} synonym: "brain stem neoplasm" EXACT [NCIT:C5969] synonym: "brainstem cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "childhood brain stem neoplasm" EXACT [NCIT:C5969] +synonym: "childhood brain stem neoplasm" EXACT [DOID:4206, NCIT:C5969] synonym: "childhood brain stem tumor" EXACT [NCIT:C5969] synonym: "childhood brain stem tumour" EXACT OMO:0003005 [] synonym: "childhood brainstem cancer" EXACT [MONDO:design_pattern] @@ -52653,7 +52655,7 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0002915 name: childhood infratentorial neoplasm def: "A neoplasm that affects the infratentorial region of the brain and occurs during childhood." [NCIT:C5802] -synonym: "childhood infratentorial neoplasm" EXACT [NCIT:C5802] +synonym: "childhood infratentorial neoplasm" EXACT [DOID:4207, NCIT:C5802] synonym: "childhood infratentorial neoplasms" EXACT [NCIT:C5802] synonym: "childhood infratentorial tumor" EXACT [NCIT:C5802] synonym: "childhood infratentorial tumors" EXACT [NCIT:C5802] @@ -52725,8 +52727,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CCM" RELATED ABBREVIATION [ONCOTREE:CCM] -synonym: "clear cell meningioma" EXACT [DOID:4210] -synonym: "clear cell meningioma (morphologic abnormality)" EXACT [DOID:4210] +synonym: "clear cell meningioma" EXACT [DOID:4210, NCIT:C4722] +synonym: "clear cell meningioma (morphologic abnormality)" EXACT [] xref: DOID:4210 {source="MONDO:equivalentTo"} xref: ICDO:9538/1 {source="NCIT:C4722"} xref: MEDGEN:98459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -52766,7 +52768,7 @@ synonym: "malignant Brenner tumor of ovary" EXACT [NCIT:C4270] synonym: "malignant Brenner tumor of the ovary" EXACT [NCIT:C4270] synonym: "malignant Brenner tumour of ovary" EXACT OMO:0003005 [] synonym: "malignant Brenner tumour of the ovary" EXACT OMO:0003005 [] -synonym: "malignant ovarian Brenner tumor" EXACT [NCIT:C4270] +synonym: "malignant ovarian Brenner tumor" EXACT [DOID:4217, NCIT:C4270] synonym: "ovarian Brenner tumor, malignant" EXACT [MONDO:patterns/malignant] xref: DOID:4217 {source="MONDO:equivalentTo"} xref: ICDO:9000/3 {source="NCIT:C4270"} @@ -52788,7 +52790,7 @@ def: "A group of rare genetic muscle disorders characterized by hypotonia, muscl subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "centronuclear myopathy" RELATED [NCIT:C84648] +synonym: "centronuclear myopathy" RELATED [] xref: DOID:422 {source="MONDO:equivalentTo"} xref: MEDGEN:156050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D020914 {source="MONDO:equivalentTo", source="DOID:422"} @@ -52831,7 +52833,7 @@ subset: rare synonym: "body of uterus endometrial stromal sarcoma" EXACT [MONDO:patterns/location] synonym: "body of uterus endometrioid stromal sarcoma" EXACT [MONDO:patterns/location] synonym: "endometrioid stromal sarcoma of body of uterus" EXACT [MONDO:design_pattern] -synonym: "uterine corpus endometrial stromal sarcoma" EXACT [NCIT:C40219] +synonym: "uterine corpus endometrial stromal sarcoma" EXACT [DOID:4227, NCIT:C40219] synonym: "uterine corpus endometrial stromal tumor" EXACT [DOID:4227] synonym: "uterine corpus endometrial stromal tumour" EXACT OMO:0003005 [] synonym: "uterine corpus ess" EXACT [NCIT:C40219] @@ -52861,7 +52863,7 @@ synonym: "malignant tumor of smooth muscle" EXACT [DOID:4230, NCIT:C6511] synonym: "malignant tumor of the smooth muscle" EXACT [NCIT:C6511] synonym: "malignant tumour of smooth muscle" EXACT OMO:0003005 [] synonym: "malignant tumour of the smooth muscle" EXACT OMO:0003005 [] -synonym: "smooth muscle cancer" EXACT [NCIT:C6511] +synonym: "smooth muscle cancer" EXACT [DOID:4230, NCIT:C6511] xref: DOID:4230 {source="MONDO:equivalentTo"} xref: MEDGEN:233670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6511 {source="MONDO:equivalentTo", source="DOID:4230"} @@ -52887,16 +52889,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adult soft part clear cell sarcoma" EXACT [DOID:4233] -synonym: "chordoid sarcoma" EXACT [NCIT:C3745] -synonym: "clear cell sarcoma (morphologic abnormality)" EXACT [DOID:4233] -synonym: "clear cell sarcoma - not kidney" EXACT [NCIT:C3745] +synonym: "chordoid sarcoma" EXACT [] +synonym: "clear cell sarcoma (morphologic abnormality)" EXACT [] +synonym: "clear cell sarcoma - not kidney" EXACT [] synonym: "clear cell sarcoma of soft parts" EXACT [DOID:4233, NCIT:C3745] synonym: "clear cell sarcoma of soft tissue" EXACT [NCIT:C3745] -synonym: "clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)" EXACT [NCIT:C3745] +synonym: "clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)" EXACT [] synonym: "malignant melanoma of soft parts" RELATED [DOID:4233] synonym: "malignant melanoma of soft tissues" EXACT [DOID:4233] -synonym: "malignant melanoma of the soft parts" EXACT [NCIT:C3745] -synonym: "melanoma, malignant, of soft parts" EXACT [DOID:4233] +synonym: "malignant melanoma of the soft parts" EXACT [] +synonym: "melanoma, malignant, of soft parts" EXACT [DOID:4233, NCIT:C3745] xref: DOID:4233 {source="MONDO:equivalentTo"} xref: EFO:0008498 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -52919,7 +52921,7 @@ id: MONDO:0002927 name: spindle cell sarcoma def: "A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas." [NCIT:C27005] subset: otar {source="MONDO:OTAR"} -synonym: "spindle cell sarcoma" EXACT [NCIT:C27005] +synonym: "spindle cell sarcoma" EXACT [DOID:4235, NCIT:C27005] xref: DOID:4235 {source="MONDO:equivalentTo"} xref: ICDO:8801/3 {source="NCIT:C27005"} xref: MEDGEN:64477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -52936,24 +52938,24 @@ id: MONDO:0002928 name: carcinosarcoma def: "A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements." [NCIT:C34448] subset: otar {source="MONDO:OTAR"} -synonym: "carcinosarcoma" EXACT [NCIT:C34448] +synonym: "carcinosarcoma" EXACT [DOID:4236, NCIT:C34448] synonym: "carcinosarcoma, malignant" EXACT [NCIT:C34448] synonym: "malignant mixed mesodermal (mullerian) tumor" EXACT [DOID:4236] synonym: "malignant mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 [] synonym: "malignant mixed Mullerian tumor" EXACT [DOID:4236] synonym: "malignant mixed Mullerian tumour" EXACT OMO:0003005 [] synonym: "mesodermal mixed tumor" EXACT [DOID:4236] -synonym: "mesodermal mixed tumor (morphologic abnormality)" EXACT [DOID:4236] +synonym: "mesodermal mixed tumor (morphologic abnormality)" EXACT [] synonym: "mesodermal mixed tumour" EXACT OMO:0003005 [] synonym: "mesodermal mixed tumour (morphologic abnormality)" EXACT OMO:0003005 [] -synonym: "mixed mesodermal (mullerian) tumor" EXACT [DOID:4236, NCIT:C3730] +synonym: "mixed mesodermal (mullerian) tumor" EXACT [DOID:4236] synonym: "mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 [] synonym: "mixed Mullerian tumor" RELATED [GARD:0006966] synonym: "mixed Mullerian tumour" RELATED OMO:0003005 [] synonym: "mixed tumor, Mullerian" RELATED [GARD:0006966] -synonym: "MMMT" EXACT ABBREVIATION [DOID:4236, NCIT:C8975] +synonym: "MMMT" EXACT ABBREVIATION [DOID:4236] synonym: "mullerian mixed tumor" EXACT [DOID:4236] -synonym: "mullerian mixed tumor (morphologic abnormality)" EXACT [DOID:4236] +synonym: "mullerian mixed tumor (morphologic abnormality)" EXACT [] synonym: "mullerian mixed tumour" EXACT OMO:0003005 [] synonym: "mullerian mixed tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:4236 {source="MONDO:equivalentTo"} @@ -52992,9 +52994,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "kidney sarcoma" EXACT [MONDO:patterns/location, NCIT:C4525] +synonym: "kidney sarcoma" EXACT [DOID:4242, MONDO:patterns/location, NCIT:C4525] synonym: "renal sarcoma" EXACT [DOID:4242, NCIT:C4525] -synonym: "sarcoma of kidney" EXACT [MONDO:patterns/sarcoma, NCIT:C4525] +synonym: "sarcoma of kidney" EXACT [DOID:4242, MONDO:patterns/sarcoma, NCIT:C4525] synonym: "sarcoma of the kidney" EXACT [NCIT:C4525] xref: DOID:4242 {source="MONDO:equivalentTo"} xref: ICD9:189.0 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -53046,7 +53048,7 @@ is_a: MONDO:0000833 {source="DOID:4254"} ! bone remodeling disease id: MONDO:0002934 name: intravascular angioleiomyoma def: "A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels." [NCIT:C5355] -synonym: "intravascular angioleiomyoma" EXACT [NCIT:C5355] +synonym: "intravascular angioleiomyoma" EXACT [DOID:4266, NCIT:C5355] synonym: "intravascular angiomyoma" EXACT [NCIT:C5355] xref: DOID:4266 {source="MONDO:equivalentTo"} xref: MEDGEN:233577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -53061,7 +53063,7 @@ name: penis basal cell carcinoma def: "A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans." [NCIT:C39961] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "basal cell carcinoma of the penis" EXACT [DOID:4277, NCIT:C39961] +synonym: "basal cell carcinoma of the penis" EXACT [NCIT:C39961] synonym: "penile basal cell cancer" EXACT [NCIT:C39961] synonym: "penile basal cell carcinoma" EXACT [NCIT:C39961] synonym: "penis skin basal cell carcinoma" EXACT [MONDO:patterns/location] @@ -53101,12 +53103,12 @@ id: MONDO:0002937 name: nodular basal cell carcinoma def: "A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated." [NCIT:P378] synonym: "basal cell carcinoma, nodular" EXACT [DOID:4280] -synonym: "basal cell carcinoma, nodular (morphologic abnormality)" EXACT [DOID:4280] +synonym: "basal cell carcinoma, nodular (morphologic abnormality)" EXACT [] synonym: "circumscribed solid basal cell carcinoma" EXACT [DOID:4280] synonym: "Nodulo-ulcerative basal cell carcinoma" EXACT [NCIT:C5568] synonym: "Rodent Ulcer" EXACT [NCIT:C5568] -synonym: "skin nodulo-ulcerative basal cell carcinoma" EXACT [DOID:4280] -synonym: "skin solid (nodular) basal cell carcinoma" EXACT [DOID:4280, NCIT:C5616] +synonym: "skin nodulo-ulcerative basal cell carcinoma" EXACT [DOID:4280, NCIT:C5568] +synonym: "skin solid (nodular) basal cell carcinoma" EXACT [DOID:4280] xref: DOID:4280 {source="MONDO:equivalentTo"} xref: MEDGEN:908229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5568 {source="MONDO:equivalentTo"} @@ -53122,7 +53124,7 @@ name: metatypical basal cell carcinoma def: "A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma." [NCIT:C66903] synonym: "basosquamous carcinoma of skin" EXACT [DOID:4281] synonym: "skin metatypical basal cell carcinoma" EXACT [DOID:4281] -synonym: "skin metatypical carcinoma" EXACT [DOID:4281, NCIT:C2922] +synonym: "skin metatypical carcinoma" EXACT [DOID:4281] xref: DOID:4281 {source="MONDO:equivalentTo"} xref: ICDO:8095/3 {source="NCIT:C66903"} xref: MEDGEN:362831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -53136,7 +53138,7 @@ id: MONDO:0002939 name: skin pigmented basal cell carcinoma def: "A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002." [NCIT:P378] synonym: "pigmented basal cell carcinoma" EXACT [DOID:4282, NCIT:C9359] -synonym: "skin pigmented basal cell carcinoma" EXACT [NCIT:C9359] +synonym: "skin pigmented basal cell carcinoma" EXACT [DOID:4282, NCIT:C9359] xref: DOID:4282 {source="MONDO:equivalentTo"} xref: MEDGEN:237149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9359 {source="MONDO:equivalentTo"} @@ -53150,8 +53152,8 @@ name: anal margin basal cell carcinoma def: "A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare." [NCIT:C7473] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "anal margin basal cell carcinoma" EXACT [NCIT:C7473] -synonym: "basal cell carcinoma of anal margin" EXACT [DOID:4283, NCIT:C7473] +synonym: "anal margin basal cell carcinoma" EXACT [DOID:4283, NCIT:C7473] +synonym: "basal cell carcinoma of anal margin" EXACT [NCIT:C7473] synonym: "basal cell carcinoma of perianal skin" EXACT [DOID:4283, NCIT:C7473] synonym: "basal cell carcinoma of the anal margin" EXACT [NCIT:C7473] synonym: "basal cell carcinoma of the perianal skin" EXACT [NCIT:C7473] @@ -53173,8 +53175,8 @@ id: MONDO:0002941 name: anal margin carcinoma def: "A carcinoma that arises from epithelial cells of the perianal skin" [https://orcid.org/0000-0002-6601-2165] synonym: "anal margin cancer" EXACT [NCIT:C7472] -synonym: "anal margin carcinoma" EXACT [NCIT:C7472] -synonym: "carcinoma of anal margin" EXACT [DOID:4284, NCIT:C7472] +synonym: "anal margin carcinoma" EXACT [DOID:4284, NCIT:C7472] +synonym: "carcinoma of anal margin" EXACT [NCIT:C7472] synonym: "carcinoma of perianal skin" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the anal margin" EXACT [NCIT:C7472] synonym: "perianal skin carcinoma" EXACT [DOID:4284, MONDO:patterns/location, NCIT:C7472] @@ -53205,10 +53207,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "basal cell carcinoma of external Ear" EXACT [NCIT:C6082] synonym: "basal cell carcinoma of external ear" RELATED [DOID:4287] -synonym: "basal cell carcinoma of the external Ear" EXACT [NCIT:C6082] +synonym: "basal cell carcinoma of the external Ear" EXACT [DOID:4287, NCIT:C6082] synonym: "basal cell carcinoma of the external ear" EXACT [DOID:4287, NCIT:C6082] synonym: "basal cell external ear carcinoma" EXACT [MONDO:patterns/location] -synonym: "external Ear basal cell carcinoma" EXACT [NCIT:C6082] +synonym: "external Ear basal cell carcinoma" EXACT [DOID:4287, NCIT:C6082] synonym: "external ear skin basal cell carcinoma" EXACT [MONDO:patterns/location] synonym: "skin basal cell carcinoma of external ear" EXACT [MONDO:design_pattern] xref: DOID:4287 {source="MONDO:equivalentTo"} @@ -53225,11 +53227,11 @@ id: MONDO:0002944 name: external ear carcinoma def: "A carcinoma that arises from epithelial cells of the external ear" [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoma of external Ear" EXACT [NCIT:C6081] -synonym: "carcinoma of external ear" EXACT [DOID:4288, MONDO:patterns/carcinoma] -synonym: "carcinoma of the external Ear" EXACT [NCIT:C6081] +synonym: "carcinoma of external ear" EXACT [MONDO:patterns/carcinoma, NCIT:C6081] +synonym: "carcinoma of the external Ear" EXACT [DOID:4288, NCIT:C6081] synonym: "carcinoma of the external ear" EXACT [DOID:4288, NCIT:C6081] -synonym: "external Ear carcinoma" EXACT [NCIT:C6081] -synonym: "external ear carcinoma" EXACT [MONDO:patterns/location] +synonym: "external Ear carcinoma" EXACT [DOID:4288, NCIT:C6081] +synonym: "external ear carcinoma" EXACT [DOID:4288, MONDO:patterns/location, NCIT:C6081] xref: DOID:4288 {source="MONDO:equivalentTo"} xref: MEDGEN:272600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6081 {source="DOID:4288", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -53244,7 +53246,7 @@ intersection_of: disease_has_location UBERON:0001691 ! external ear id: MONDO:0002945 name: micronodular basal cell carcinoma def: "A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back." [NCIT:C27541] -synonym: "skin micronodular basal cell carcinoma" EXACT [DOID:4289] +synonym: "skin micronodular basal cell carcinoma" EXACT [DOID:4289, NCIT:C27541] xref: DOID:4289 {source="MONDO:equivalentTo"} xref: MEDGEN:234567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27541 {source="MONDO:equivalentTo"} @@ -53266,7 +53268,7 @@ is_a: MONDO:0002263 {source="DOID:429", source="MESH:D006175"} ! female reproduc [Term] id: MONDO:0002947 name: adamantinoid basal cell epithelioma -synonym: "adamantinoid basal cell carcinoma" EXACT [NCIT:C7585] +synonym: "adamantinoid basal cell carcinoma" EXACT [] synonym: "basal cell carcinoma - adamantinoid" EXACT [DOID:4290] synonym: "melanotic adamantinoma of skin" EXACT [DOID:4290] synonym: "skin adamantinoid basal cell carcinoma" EXACT [NCIT:C7585] @@ -53283,9 +53285,9 @@ is_a: MONDO:0005341 {source="DOID:4290", source="NCIT:C7585"} ! skin basal cell id: MONDO:0002948 name: skin fibroepithelial basal cell carcinoma def: "A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course." [NCIT:P378] -synonym: "fibroepithelial basal cell carcinoma" RELATED [DOID:4291] -synonym: "fibroepithelioma of Pinkus" EXACT [NCIT:C4109] -synonym: "fibroepithelioma of Pinkus type" EXACT [DOID:4291] +synonym: "fibroepithelial basal cell carcinoma" RELATED [] +synonym: "fibroepithelioma of Pinkus" EXACT [DOID:4291, NCIT:C4109] +synonym: "fibroepithelioma of Pinkus type" EXACT [DOID:4291, NCIT:C4109] synonym: "Pinkus tumor" EXACT [DOID:4291, NCIT:C4109] synonym: "Pinkus tumour" EXACT OMO:0003005 [] xref: DOID:4291 {source="MONDO:equivalentTo"} @@ -53306,7 +53308,7 @@ synonym: "basal cell carcinoma, morphea" EXACT [DOID:4292] synonym: "cicatricial basal-cell carcinoma" EXACT [DOID:4292] synonym: "morphea-type (sclerosing) basal cell carcinoma" EXACT [DOID:4292, NCIT:C27182] synonym: "morphea-type basal cell carcinoma" EXACT [NCIT:C27182] -synonym: "morpheaform basal cell carcinoma" EXACT [NCIT:C27182] +synonym: "morpheaform basal cell carcinoma" EXACT [DOID:4292, NCIT:C27182] synonym: "sclerosing type basal cell carcinoma" EXACT [NCIT:C27182] synonym: "skin morphea-type (sclerosing) basal cell carcinoma" EXACT [NCIT:C27182] xref: DOID:4292 {source="MONDO:equivalentTo"} @@ -53324,7 +53326,7 @@ id: MONDO:0002950 name: skin clear cell basal cell carcinoma def: "A morphologic variant of basal cell carcinoma characterized by the presence of clear cells." [NCIT:P378] synonym: "clear cell basal cell carcinoma" EXACT [DOID:4293, NCIT:C27536] -synonym: "skin clear cell basal cell carcinoma" EXACT [NCIT:C27536] +synonym: "skin clear cell basal cell carcinoma" EXACT [DOID:4293, NCIT:C27536] xref: DOID:4293 {source="MONDO:equivalentTo"} xref: MEDGEN:275752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27536 {source="MONDO:equivalentTo", source="DOID:4293"} @@ -53337,7 +53339,7 @@ name: skin adenoid basal cell carcinoma def: "A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern." [NCIT:C27535] comment: Editor note: adenoid refers to histological subtype, not tonsils synonym: "adenoid basal cell carcinoma" EXACT [DOID:4294, NCIT:C27535] -synonym: "skin adenoid basal cell carcinoma" EXACT [NCIT:C27535] +synonym: "skin adenoid basal cell carcinoma" EXACT [DOID:4294, NCIT:C27535] xref: DOID:4294 {source="MONDO:equivalentTo"} xref: ICDO:8098/3 {source="NCIT:C27535"} xref: MEDGEN:266272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -53351,7 +53353,7 @@ relationship: excluded_subClassOf MONDO:0006998 {source="DOID:4294", source="htt id: MONDO:0002952 name: follicular basal cell carcinoma synonym: "follicular (pilar) basal cell carcinoma" EXACT [DOID:4295] -synonym: "skin follicular basal cell carcinoma" EXACT [NCIT:C27538] +synonym: "skin follicular basal cell carcinoma" EXACT [DOID:4295, NCIT:C27538] xref: DOID:4295 {source="MONDO:equivalentTo"} xref: MEDGEN:363001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27538 {source="MONDO:equivalentTo"} @@ -53363,9 +53365,9 @@ is_a: MONDO:0005341 {source="DOID:4295", source="NCIT:C27538/inferred"} ! skin b id: MONDO:0002953 name: skin infiltrative basal cell carcinoma def: "A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues." [NCIT:P378] -synonym: "infiltrating basal cell carcinoma" EXACT [DOID:4299, NCIT:C27539] -synonym: "infiltrative basal cell carcinoma" RELATED [DOID:4299] -synonym: "skin infiltrating basal cell carcinoma" EXACT [NCIT:C27539] +synonym: "infiltrating basal cell carcinoma" EXACT [NCIT:C27539] +synonym: "infiltrative basal cell carcinoma" RELATED [] +synonym: "skin infiltrating basal cell carcinoma" EXACT [DOID:4299, NCIT:C27539] xref: DOID:4299 {source="MONDO:equivalentTo"} xref: ICDO:8092/3 {source="NCIT:C27539"} xref: MEDGEN:87201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -53378,9 +53380,9 @@ id: MONDO:0002954 name: superficial multifocal basal cell carcinoma def: "A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors." [NCIT:C4108] synonym: "multicentric basal cell carcinoma" EXACT [DOID:4300, NCIT:C4108] -synonym: "multifocal superficial basal cell carcinoma" EXACT [DOID:4300] -synonym: "multifocal superficial basal cell carcinoma (morphologic abnormality)" EXACT [DOID:4300] -synonym: "superficial basal cell carcinoma" RELATED [DOID:4300] +synonym: "multifocal superficial basal cell carcinoma" EXACT [DOID:4300, NCIT:C4108] +synonym: "multifocal superficial basal cell carcinoma (morphologic abnormality)" EXACT [] +synonym: "superficial basal cell carcinoma" RELATED [] synonym: "superficial multicentric basal-cell carcinoma" EXACT [DOID:4300] synonym: "superficial multifocal basal cell carcinoma" EXACT [NCIT:C4108] xref: DOID:4300 {source="MONDO:equivalentTo"} @@ -53400,12 +53402,12 @@ subset: gard_rare {source="GARD:22006", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:494451"} subset: rare -synonym: "basal cell carcinoma of the vulva" EXACT [DOID:4301, NCIT:C6381] -synonym: "basal cell carcinoma of vulva" EXACT [DOID:4301, NCIT:C6381] +synonym: "basal cell carcinoma of the vulva" EXACT [NCIT:C6381] +synonym: "basal cell carcinoma of vulva" EXACT [DOID:4301, icd11.foundation:247568702, NCIT:C6381, Orphanet:494451] synonym: "mammalian vulva skin basal cell carcinoma" EXACT [MONDO:patterns/location] synonym: "skin basal cell carcinoma of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "vulvar basal cell cancer" EXACT [NCIT:C6381] -synonym: "vulvar basal cell carcinoma" EXACT [NCIT:C6381] +synonym: "vulvar basal cell carcinoma" EXACT [NCIT:C6381, Orphanet:494451] xref: DOID:4301 {source="MONDO:equivalentTo"} xref: GARD:22006 {source="MONDO:GARD"} xref: icd11.foundation:247568702 {source="Orphanet:494451", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -53423,7 +53425,7 @@ intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva id: MONDO:0002956 name: skin cystic basal cell carcinoma synonym: "cystic basal cell carcinoma" EXACT [DOID:4302, NCIT:C27537] -synonym: "skin cystic basal cell carcinoma" EXACT [NCIT:C27537] +synonym: "skin cystic basal cell carcinoma" EXACT [DOID:4302, NCIT:C27537] xref: DOID:4302 {source="MONDO:equivalentTo"} xref: MEDGEN:224810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27537 {source="MONDO:equivalentTo"} @@ -53446,8 +53448,8 @@ is_a: MONDO:0006406 {source="NCIT:C38111"} ! sarcomatoid carcinoma id: MONDO:0002958 name: signet ring basal cell carcinoma synonym: "signet Ring cell basal cell carcinoma" EXACT [NCIT:C38110] -synonym: "skin signet Ring cell basal cell carcinoma" EXACT [NCIT:C38110] -synonym: "skin signet ring cell basal cell carcinoma" EXACT [DOID:4304] +synonym: "skin signet Ring cell basal cell carcinoma" EXACT [DOID:4304, NCIT:C38110] +synonym: "skin signet ring cell basal cell carcinoma" EXACT [DOID:4304, NCIT:C38110] xref: DOID:4304 {source="MONDO:equivalentTo"} xref: MEDGEN:276814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C38110 {source="MONDO:equivalentTo", source="DOID:4304"} @@ -53460,8 +53462,8 @@ name: radiculopathy def: "Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root." [MESH:D011843] comment: Editor note: DO classifies under polyradiculopathy, which we invert subset: otar {source="MONDO:OTAR"} -synonym: "nerve root disorder" EXACT [DOID:4306] -synonym: "nerve root disorder, NOS" RELATED EXCLUDE [DOID:4306] +synonym: "nerve root disorder" EXACT [] +synonym: "nerve root disorder, NOS" RELATED EXCLUDE [] xref: DOID:4306 {source="MONDO:equivalentTo"} xref: ICD10CM:M54.1 {source="MONDO:equivalentTo", source="DOID:4306"} xref: ICD10CM:M54.10 {source="DOID:4306"} @@ -53546,7 +53548,7 @@ synonym: "Morgagni hydatid cysts" RELATED [MESH:D010310] synonym: "Morgagni Hydatids" RELATED [MESH:D010310] synonym: "Paratubal cyst" RELATED [MESH:D010310] synonym: "Paratubal cysts" RELATED [MESH:D010310] -synonym: "parovarian cyst" EXACT [] +synonym: "parovarian cyst" EXACT [DOID:4333] synonym: "parovarian cysts" RELATED [MESH:D010310] xref: DOID:4333 {source="MONDO:equivalentTo"} xref: ICD10CM:Q50.4 {source="DOID:4333"} @@ -53569,7 +53571,7 @@ synonym: "prolymphocytic leukaemia of spleen" EXACT OMO:0003005 [] synonym: "prolymphocytic leukemia of spleen" EXACT [MONDO:design_pattern] synonym: "spleen prolymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "spleen prolymphocytic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "splenic manifestation of prolymphocytic leukemia" EXACT [NCIT:C7297] +synonym: "splenic manifestation of prolymphocytic leukemia" EXACT [DOID:4334, NCIT:C7297] xref: DOID:4334 {source="MONDO:equivalentTo"} xref: MEDGEN:277663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7297 {source="DOID:4334", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -53584,10 +53586,10 @@ id: MONDO:0002967 name: dermatophytosis of scalp or beard def: "Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area." [NCIT:C34536] synonym: "dermatophytosis of scalp" RELATED [DOID:4337] -synonym: "dermatophytosis of scalp and beard" EXACT [DOID:4337, NCIT:C34536] +synonym: "dermatophytosis of scalp and beard" EXACT [NCIT:C34536] synonym: "scalp dermatophytosis" EXACT [MONDO:patterns/location] synonym: "scalp ringworm" EXACT [DOID:4337] -synonym: "tinea capitis" RELATED [DOID:4337] +synonym: "tinea capitis" RELATED [] synonym: "tinea capitis due to Trichophyton rubrum" EXACT [DOID:4337] synonym: "Trichophyton rubrum tinea capitis" EXACT [DOID:4337] xref: DOID:4337 {source="MONDO:equivalentTo"} @@ -53624,18 +53626,18 @@ id: MONDO:0002969 name: ciliary body cancer def: "A malignant neoplasm involving the ciliary body." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of ciliary body" EXACT [MONDO:patterns/cancer] -synonym: "ciliary body cancer" EXACT [MONDO:patterns/location] +synonym: "ciliary body cancer" EXACT [DOID:4352, MONDO:patterns/location] synonym: "malignant ciliary body neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4766] synonym: "malignant ciliary body tumor" EXACT [NCIT:C4766] synonym: "malignant ciliary body tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of ciliary body" EXACT [DOID:4352, MONDO:patterns/cancer, NCIT:C4766] synonym: "malignant neoplasm of the ciliary body" EXACT [NCIT:C4766] -synonym: "malignant tumor of ciliary body" EXACT [NCIT:C4766] +synonym: "malignant tumor of ciliary body" EXACT [DOID:4352, NCIT:C4766] synonym: "malignant tumor of the ciliary body" EXACT [DOID:4352, NCIT:C4766] synonym: "malignant tumour of ciliary body" EXACT OMO:0003005 [] synonym: "malignant tumour of the ciliary body" EXACT OMO:0003005 [] -synonym: "neoplasm of ciliary body" BROAD EXCLUDE [DOID:4352] -synonym: "tumor of the ciliary body" BROAD [DOID:4352, NCIT:C4364] +synonym: "neoplasm of ciliary body" BROAD EXCLUDE [] +synonym: "tumor of the ciliary body" BROAD [] synonym: "tumour of the ciliary body" BROAD OMO:0003005 [] xref: DOID:4352 {source="MONDO:equivalentTo"} xref: ICD10CM:C69.4 {source="DOID:4352"} @@ -53658,7 +53660,7 @@ id: MONDO:0002970 name: ciliary body disorder def: "A disease involving the ciliary body." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "ciliary body disease" EXACT [MONDO:patterns/location, NCIT:C35775] +synonym: "ciliary body disease" EXACT [DOID:4353, MONDO:patterns/location, NCIT:C35775] synonym: "ciliary body disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "ciliary body disorder" EXACT [NCIT:C35775] synonym: "disease of ciliary body" EXACT [MONDO:patterns/location_top] @@ -53684,7 +53686,7 @@ name: amelanotic melanoma def: "A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction." [NCIT:C3802] subset: otar {source="MONDO:OTAR"} synonym: "amelanotic melanoma" EXACT [DOID:4359, MESH:D018328, NCIT:C3802] -synonym: "amelanotic melanoma (morphologic abnormality)" EXACT [DOID:4359] +synonym: "amelanotic melanoma (morphologic abnormality)" EXACT [] synonym: "amelanotic melanomas" RELATED [MESH:D018328] synonym: "melanoma, amelanotic, malignant" EXACT [NCIT:C3802] synonym: "melanomas, amelanotic" RELATED [MESH:D018328] @@ -53705,7 +53707,7 @@ def: "A malignant neoplasm involving the posterior mediastinum." [https://orcid. synonym: "cancer of posterior mediastinum" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of posterior mediastinum" EXACT [MONDO:patterns/cancer] synonym: "malignant posterior mediastinum neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "posterior mediastinum cancer" EXACT [MONDO:patterns/location] +synonym: "posterior mediastinum cancer" EXACT [DOID:436, MONDO:patterns/location] xref: DOID:436 {source="MONDO:equivalentTo"} xref: ICD10CM:C38.2 {source="DOID:436"} xref: ICD9:164.3 {source="DOID:436", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -53723,8 +53725,8 @@ name: epithelioid cell melanoma def: "A melanoma characterized by the presence of malignant large epithelioid melanocytes." [NCIT:C4236] subset: otar {source="MONDO:OTAR"} synonym: "epithelioid cell malignant melanoma" EXACT [NCIT:C4236] -synonym: "epithelioid cell melanoma" EXACT [NCIT:C4236] -synonym: "epithelioid cell melanoma (morphologic abnormality)" EXACT [DOID:4360] +synonym: "epithelioid cell melanoma" EXACT [DOID:4360, NCIT:C4236] +synonym: "epithelioid cell melanoma (morphologic abnormality)" EXACT [] synonym: "epithelioid melanoma" EXACT [DOID:4360, NCIT:C4236] xref: DOID:4360 {source="MONDO:equivalentTo"} xref: ICDO:8771/3 {source="NCIT:C4236"} @@ -53740,8 +53742,8 @@ name: cervical cancer def: "A primary or metastatic malignant neoplasm involving the cervix." [NCIT:C9311] subset: otar {source="MONDO:OTAR"} synonym: "cancer of uterine cervix" EXACT [MONDO:patterns/cancer] -synonym: "cervical cancer, somatic" EXACT [OMIM:603956, OMIM:genemap2] -synonym: "cervical neoplasm" BROAD [DOID:4362] +synonym: "cervical cancer, somatic" EXACT [] +synonym: "cervical neoplasm" BROAD [] synonym: "cervix cancer" EXACT [DOID:4362] synonym: "cervix uteri cancer" EXACT [DOID:4362] synonym: "malignant cervical neoplasm" EXACT [NCIT:C9311] @@ -53774,10 +53776,10 @@ synonym: "malignant tumour of uterine cervix" EXACT OMO:0003005 [] synonym: "malignant uterine cervix neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9311] synonym: "malignant uterine cervix tumor" EXACT [NCIT:C9311] synonym: "malignant uterine cervix tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of uterine cervix" RELATED EXCLUDE [DOID:4362] -synonym: "tumor of the cervix uteri" BROAD [DOID:4362, NCIT:C2940] +synonym: "neoplasm of uterine cervix" RELATED EXCLUDE [] +synonym: "tumor of the cervix uteri" BROAD [] synonym: "tumour of the cervix uteri" BROAD OMO:0003005 [] -synonym: "uterine cervical neoplasm" BROAD [DOID:4362] +synonym: "uterine cervical neoplasm" BROAD [] synonym: "uterine cervix cancer" EXACT [MONDO:patterns/location] xref: DOID:4362 {source="MONDO:equivalentTo"} xref: ICD10CM:C53 {source="DOID:4362"} @@ -53810,8 +53812,8 @@ name: malignant breast melanoma def: "A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare." [NCIT:C8410] synonym: "breast melanoma" EXACT [DOID:4364, NCIT:C8410] synonym: "breast melanoma (disease)" EXACT [MONDO:patterns/location] -synonym: "malignant breast melanoma" EXACT [NCIT:C8410] -synonym: "malignant melanoma of breast" EXACT [NCIT:C8410] +synonym: "malignant breast melanoma" EXACT [DOID:4364, NCIT:C8410] +synonym: "malignant melanoma of breast" EXACT [DOID:4364, NCIT:C8410] synonym: "malignant melanoma of the breast" EXACT [NCIT:C8410] synonym: "melanoma (disease) of breast" EXACT [] xref: DOID:4364 {source="MONDO:equivalentTo"} @@ -53847,7 +53849,7 @@ synonym: "autoimmune diseases, neurologic" EXACT [MESH:D020274] synonym: "autoimmune disorders of the nervous system" EXACT [MESH:D020274] synonym: "autoimmune disorders, nervous system" EXACT [MESH:D020274] synonym: "autoimmune nervous system diseases" EXACT [MESH:D020274] -synonym: "autoimmune nervous system disorder" EXACT [DOID:438, NCIT:C99383] +synonym: "autoimmune nervous system disorder" EXACT [NCIT:C99383] synonym: "disease, neurologic autoimmune" EXACT [MESH:D020274] synonym: "diseases, neurologic autoimmune" EXACT [MESH:D020274] synonym: "immune diseases, nervous system" EXACT [MESH:D020274] @@ -53890,7 +53892,7 @@ def: "A well differentiated squamous cell carcinoma characterized by a papillary subset: otar {source="MONDO:OTAR"} synonym: "papillary epidermoid carcinoma" EXACT [DOID:4385, NCIT:C4102] synonym: "papillary epidermoid cell carcinoma" EXACT [NCIT:C4102] -synonym: "papillary squamous carcinoma" EXACT [NCIT:C4102] +synonym: "papillary squamous carcinoma" EXACT [DOID:4385, NCIT:C4102] synonym: "papillary squamous cell carcinoma" EXACT [NCIT:C4102] xref: DOID:4385 {source="MONDO:equivalentTo"} xref: ICDO:8052/3 {source="NCIT:C4102"} @@ -53916,7 +53918,7 @@ def: "A small round cell tumor with neural differentiation arising from the bone subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "bone peripheral neuroepithelioma" EXACT [NCIT:C8776] +synonym: "bone peripheral neuroepithelioma" EXACT [DOID:4388, NCIT:C8776] synonym: "bone tissue peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location] synonym: "bone tissue peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "osseous peripheral neuroepithelioma" EXACT [DOID:4388, NCIT:C8776] @@ -53951,7 +53953,7 @@ synonym: "peripheral neuroectodermal tumour of the soft tissues" EXACT OMO:00030 synonym: "peripheral neuroepithelioma of soft tissues" EXACT [NCIT:C27471] synonym: "peripheral neuroepithelioma of the soft tissues" EXACT [NCIT:C27471] synonym: "peripheral primitive neuroectodermal tumor of soft tissues" EXACT [NCIT:C27471] -synonym: "soft tissue peripheral neuroepithelioma" RELATED [DOID:4389] +synonym: "soft tissue peripheral neuroepithelioma" RELATED [] xref: DOID:4389 {source="MONDO:equivalentTo"} xref: MEDGEN:205115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27471 {source="DOID:4389", source="MONDO:equivalentTo"} @@ -53970,11 +53972,11 @@ replaced_by: MONDO:0020124 id: MONDO:0002984 name: reticulohistiocytic granuloma def: "A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003" [NCIT:P378] -synonym: "reticulohistiocytic granuloma (morphologic abnormality)" EXACT [DOID:4394] +synonym: "reticulohistiocytic granuloma (morphologic abnormality)" EXACT [] synonym: "Reticulohistiocytoma" EXACT [DOID:4394] synonym: "solitary histiocytoma" RELATED [GARD:0012967] synonym: "solitary Reticulohistiocytoma" EXACT [DOID:4394, NCIT:C3356] -synonym: "solitary reticulohistiocytoma" EXACT [DOID:4394] +synonym: "solitary reticulohistiocytoma" EXACT [DOID:4394, NCIT:C3356] synonym: "solitary reticulohistiocytosis" RELATED [GARD:0012967] xref: DOID:4394 {source="MONDO:equivalentTo"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -54032,12 +54034,12 @@ id: MONDO:0002989 name: benign fibrous histiocytoma def: "A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "benign fibrous histiocytoma" EXACT [NCIT:C3739] -synonym: "benign fibrous histiocytoma (morphologic abnormality)" EXACT [DOID:4415] +synonym: "benign fibrous histiocytoma" EXACT [DOID:4415, NCIT:C3739] +synonym: "benign fibrous histiocytoma (morphologic abnormality)" EXACT [] synonym: "fibrous histiocytoma" EXACT [DOID:4415, NCIT:C3739] -synonym: "fibrous histiocytoma NOS (morphologic abnormality)" EXACT [DOID:4415] +synonym: "fibrous histiocytoma NOS (morphologic abnormality)" EXACT [] synonym: "fibroxanthoma" EXACT [DOID:4415] -synonym: "fibroxanthoma NOS (morphologic abnormality)" EXACT [DOID:4415] +synonym: "fibroxanthoma NOS (morphologic abnormality)" EXACT [] synonym: "histiocytoma, fibrous, benign" EXACT [NCIT:C3739] xref: DOID:4415 {source="MONDO:equivalentTo"} xref: ICDO:8830/0 {source="NCIT:C3739"} @@ -54054,7 +54056,7 @@ is_a: MONDO:0005509 {source="DOID:4415", source="MESH:D018219", source="NCIT:C37 id: MONDO:0002990 name: benign deep fibrous histiocytoma def: "A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases." [NCIT:P378] -synonym: "benign deep fibrous histiocytoma" EXACT [NCIT:C6492] +synonym: "benign deep fibrous histiocytoma" EXACT [DOID:4419, NCIT:C6492] synonym: "deep benign fibrous histiocytoma" EXACT [NCIT:C6492] xref: DOID:4419 {source="MONDO:equivalentTo"} xref: MEDGEN:690110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -54070,7 +54072,7 @@ name: adenocarcinofibroma def: "A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma." [NCIT:C40035] synonym: "adenocarcinofibroma" EXACT [NCIT:C40035] synonym: "adenofibroma, malignant" EXACT [MONDO:patterns/malignant] -synonym: "malignant adenofibroma" EXACT [NCIT:C40035] +synonym: "malignant adenofibroma" EXACT [DOID:4422, NCIT:C40035] xref: DOID:4422 {source="MONDO:equivalentTo"} xref: MEDGEN:266966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40035 {source="DOID:4422", source="MONDO:equivalentTo"} @@ -54091,7 +54093,7 @@ def: "A neuroendocrine tumor arising from the delta cells of the pancreas. It is subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "pancreatic delta cell somatostatin producing neoplasm" EXACT [DOID:4432] -synonym: "pancreatic somatostatin cell tumor" EXACT [DOID:4432, NCIT:C8006] +synonym: "pancreatic somatostatin cell tumor" EXACT [DOID:4432] synonym: "pancreatic somatostatin cell tumour" EXACT OMO:0003005 [] xref: DOID:4432 {source="MONDO:equivalentTo"} xref: MEDGEN:235079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -54106,8 +54108,8 @@ name: pancreatic delta cell neuroendocrine tumor def: "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning)." [NCIT:C28396] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "pancreatic Delta cell neoplasm" EXACT [NCIT:C28396] -synonym: "pancreatic delta cell neoplasm" EXACT [DOID:4433] +synonym: "pancreatic Delta cell neoplasm" EXACT [DOID:4433, NCIT:C28396] +synonym: "pancreatic delta cell neoplasm" EXACT [DOID:4433, NCIT:C28396] synonym: "pancreatic Delta cell NET" EXACT [NCIT:C28396] synonym: "pancreatic Delta cell neuroendocrine tumor" EXACT [NCIT:C28396] synonym: "pancreatic Delta cell neuroendocrine tumour" EXACT OMO:0003005 [] @@ -54131,13 +54133,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carcinoid tumor of small intestine" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoid tumour of small intestine" RELATED OMO:0003005 [] -synonym: "small intestinal NET" BROAD [NCIT:C96061] -synonym: "small intestinal neuroendocrine tumor" BROAD [NCIT:C96061] +synonym: "small intestinal NET" BROAD [] +synonym: "small intestinal neuroendocrine tumor" BROAD [] synonym: "small intestinal neuroendocrine tumour" BROAD OMO:0003005 [] -synonym: "small intestinal well differentiated endocrine tumor" BROAD [NCIT:C96061] -synonym: "small intestinal well differentiated endocrine tumor/carcinoma" NARROW [NCIT:C96061] +synonym: "small intestinal well differentiated endocrine tumor" BROAD [] +synonym: "small intestinal well differentiated endocrine tumor/carcinoma" NARROW [] synonym: "small intestinal well differentiated endocrine tumour" BROAD OMO:0003005 [] -synonym: "small intestine neuroendocrine tumor" BROAD [MONDO:patterns/location, NCIT:C5803] +synonym: "small intestine neuroendocrine tumor" BROAD [MONDO:patterns/location] synonym: "small intestine neuroendocrine tumour" BROAD OMO:0003005 [] xref: MEDGEN:474161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C96061 {source="MONDO:equivalentTo"} @@ -54198,9 +54200,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "basicranium meningioma (disease)" EXACT [MONDO:patterns/location] synonym: "meningioma (disease) of basicranium" EXACT [] -synonym: "meningioma of skull base" RELATED [NCIT:C5272] +synonym: "meningioma of skull base" RELATED [] synonym: "meningioma of the skull base" EXACT [DOID:4437, NCIT:C5272] -synonym: "skull base meningioma" EXACT [NCIT:C5272] +synonym: "skull base meningioma" EXACT [DOID:4437, NCIT:C5272] xref: DOID:4437 {source="MONDO:equivalentTo"} xref: MEDGEN:233449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5272 {source="DOID:4437", source="MONDO:equivalentTo"} @@ -54217,13 +54219,13 @@ def: "A malignant germ cell tumor arising from the central nervous system. It is subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "central nervous system germinoma" EXACT [NCIT:C7009] +synonym: "central nervous system germinoma" EXACT [DOID:4438, NCIT:C7009] synonym: "central nervous system germinoma (disease)" EXACT [MONDO:patterns/location] synonym: "germinoma of central nervous system" EXACT [NCIT:C7009] synonym: "germinoma of CNS" EXACT [DOID:4438, NCIT:C7009] synonym: "germinoma of the central nervous system" EXACT [MONDO:0019616, NCIT:C7009] synonym: "germinoma of the CNS" EXACT [NCIT:C7009] -synonym: "intracranial germinoma" RELATED [Orphanet:91352] +synonym: "intracranial germinoma" RELATED [] xref: DOID:4438 {source="MONDO:equivalentTo"} xref: MEDGEN:232242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7009 {source="MONDO:equivalentTo", source="DOID:4438"} @@ -54242,7 +54244,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "central nervous system germ cell neoplasm" EXACT [NCIT:C5461] -synonym: "central nervous system germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C5461] +synonym: "central nervous system germ cell tumor" EXACT [DOID:4439, MONDO:patterns/location, NCIT:C5461] synonym: "central nervous system rare germ cell tumor" EXACT [MONDO:patterns/location] synonym: "central nervous system rare germ cell tumour" EXACT OMO:0003005 [] synonym: "CNS germ cell neoplasm" EXACT [NCIT:C5461] @@ -54259,7 +54261,7 @@ synonym: "germ cell tumor of the CNS" EXACT [DOID:4439, NCIT:C5461] synonym: "germ cell tumour of central nervous system" EXACT OMO:0003005 [] synonym: "germ cell tumour of CNS" EXACT OMO:0003005 [] synonym: "germ cell tumour of the central nervous system" EXACT OMO:0003005 [] -synonym: "germ cell tumour of the CNS" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the CNS" EXACT OMO:0003005 [DOID:4439] xref: DOID:4439 {source="MONDO:equivalentTo"} xref: MEDGEN:232040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5461 {source="MONDO:equivalentTo", source="DOID:4439"} @@ -54276,7 +54278,7 @@ def: "A radiosensitive malignant germ cell tumor found in the testis (especially subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "seminoma" EXACT [NCIT:C9309] +synonym: "seminoma" EXACT [DOID:4440, NCIT:C9309] synonym: "seminoma, malignant" EXACT [NCIT:C9309] synonym: "seminoma, pure" EXACT [DOID:4440, NCIT:C9309] xref: DOID:4440 {source="MONDO:equivalentTo"} @@ -54306,9 +54308,9 @@ def: "A malignant germ cell tumor characterized by the presence of a monotonous subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dysgerminoma" EXACT [MONDO:ambiguous, NCIT:C2996] +synonym: "dysgerminoma" EXACT [DOID:4441, MONDO:ambiguous] synonym: "dysgerminoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "dysgerminoma, malignant" EXACT [NCIT:C2996] +synonym: "dysgerminoma, malignant" EXACT [] xref: DOID:4441 {source="MONDO:equivalentTo"} xref: HP:0100621 {source="MONDO:otherHierarchy"} xref: icd11.foundation:817547820 {source="MONDO:equivalentTo"} @@ -54367,11 +54369,11 @@ id: MONDO:0003005 name: macular retinal edema def: "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." [NCIT:C35468] subset: otar {source="MONDO:OTAR"} -synonym: "edema, macular" RELATED [NCIT:C35468] +synonym: "edema, macular" RELATED [] synonym: "macula lutea retinal edema" EXACT [MONDO:patterns/location] synonym: "macula lutea retinal oedema" EXACT OMO:0003005 [] synonym: "macular edema" EXACT [DOID:4449, NCIT:C35468] -synonym: "macular oedema" EXACT OMO:0003005 [] +synonym: "macular oedema" EXACT OMO:0003005 [DOID:4449] synonym: "retinal edema of macula lutea" EXACT [MONDO:design_pattern] synonym: "retinal oedema of macula lutea" EXACT OMO:0003005 [] xref: DOID:4449 {source="MONDO:equivalentTo"} @@ -54397,7 +54399,7 @@ name: childhood kidney cell carcinoma def: "A renal cell carcinoma that occurs during childhood." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood kidney cell carcinoma" EXACT [NCIT:C6568] +synonym: "childhood kidney cell carcinoma" EXACT [DOID:4454, NCIT:C6568] synonym: "childhood renal cell carcinoma" EXACT [NCIT:C6568] synonym: "childhood renal cell carcinoma (disease)" EXACT [] synonym: "paediatric kidney cell carcinoma" EXACT OMO:0003005 [] @@ -54406,7 +54408,7 @@ synonym: "paediatric renal cell carcinoma (disease)" EXACT OMO:0003005 [] synonym: "pediatric kidney cell carcinoma" EXACT [NCIT:C6568] synonym: "pediatric renal cell carcinoma" EXACT [DOID:4454, NCIT:C6568] synonym: "pediatric renal cell carcinoma (disease)" EXACT [MONDO:patterns/childhood] -synonym: "renal cell cancer" BROAD [NCIT:C6568] +synonym: "renal cell cancer" BROAD [] synonym: "renal cell carcinoma (disease) of childhood" EXACT [MONDO:patterns/childhood] xref: DOID:4454 {source="MONDO:equivalentTo"} xref: MEDGEN:232070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -54428,7 +54430,7 @@ subset: rare synonym: "familial renal carcinoma" RELATED [MESH:C536851] synonym: "hereditary renal carcinoma" RELATED [] synonym: "hereditary renal cell cancer" EXACT [NCIT:C39789] -synonym: "hereditary renal cell carcinoma" EXACT [NCIT:C39789] +synonym: "hereditary renal cell carcinoma" EXACT [DOID:4455, NCIT:C39789] synonym: "hereditary renal cell carcinoma (disease)" EXACT [MONDO:patterns/hereditary] xref: DOID:4455 {source="MONDO:equivalentTo"} xref: MEDGEN:392857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -54447,9 +54449,9 @@ id: MONDO:0003009 name: hyperaldosteronism def: "Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "Cushing syndrome" RELATED EXCLUDE [DOID:446] -synonym: "Cushing's syndrome" RELATED EXCLUDE [DOID:446] -synonym: "primary hyperaldosteronism" RELATED [DOID:446] +synonym: "Cushing syndrome" RELATED EXCLUDE [] +synonym: "Cushing's syndrome" RELATED EXCLUDE [] +synonym: "primary hyperaldosteronism" RELATED [] xref: DOID:446 {source="MONDO:equivalentTo"} xref: EFO:0009452 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E26 {source="DOID:446", source="MONDO:equivalentTo"} @@ -54483,12 +54485,12 @@ synonym: "MCRCC" EXACT ABBREVIATION [Orphanet:319287] synonym: "multilocular clear cell adenocarcinoma" EXACT [Orphanet:319287] synonym: "multilocular clear cell carcinoma" EXACT [Orphanet:319287] synonym: "multilocular clear cell renal cell adenocarcinoma" EXACT [Orphanet:319287] -synonym: "multilocular clear cell renal cell carcinoma" EXACT [NCIT:C4524, Orphanet:319287] +synonym: "multilocular clear cell renal cell carcinoma" EXACT [DOID:4463, NCIT:C4524, Orphanet:319287] synonym: "multilocular cystic clear cell renal cell neoplasm of low malignant potential" EXACT [MONDO:0017883] synonym: "multilocular cystic renal cell adenocarcinoma" EXACT [Orphanet:319287] synonym: "multilocular cystic renal cell cancer" EXACT [NCIT:C4524] -synonym: "multilocular cystic renal cell carcinoma" EXACT [NCIT:C4524, Orphanet:319287] -synonym: "multilocular cystic renal neoplasm of low malignant potential" RELATED [Orphanet:319287] +synonym: "multilocular cystic renal cell carcinoma" EXACT [Orphanet:319287] +synonym: "multilocular cystic renal neoplasm of low malignant potential" RELATED [] synonym: "renal cystadenocarcinoma" EXACT [DOID:4463, NCIT:C4524] xref: DOID:4463 {source="MONDO:equivalentTo"} xref: GARD:21417 {source="MONDO:GARD"} @@ -54513,9 +54515,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:319322"} subset: orphanet_rare {source="Orphanet:319322"} subset: rare -synonym: "carcinoma, renal, tubular, malignant" EXACT [NCIT:C39807] +synonym: "carcinoma, renal, tubular, malignant" EXACT [] synonym: "mucinous tubular and spindle cell carcinoma of the kidney" EXACT [NCIT:C39807] -synonym: "mucinous tubular and spindle cell renal carcinoma" EXACT [MONDO:0017889] +synonym: "mucinous tubular and spindle cell renal carcinoma" EXACT [MONDO:0017889, Orphanet:319322] synonym: "renal mucinous tubular spindle cell carcinoma" RELATED [ONCOTREE:MTSCC] xref: DOID:4472 {source="MONDO:equivalentTo"} xref: GARD:21418 {source="MONDO:GARD"} @@ -54539,11 +54541,11 @@ def: "A high grade carcinoma of the kidney. It is not a distinct clinicopatholog subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RCC w/ sarcomatoid features" EXACT [NCIT:C27893] -synonym: "renal cell carcinoma with sarcomatoid features" EXACT [NCIT:C27893] +synonym: "RCC w/ sarcomatoid features" EXACT [] +synonym: "renal cell carcinoma with sarcomatoid features" EXACT [] synonym: "renal cell carcinoma, spindle cell" EXACT [DOID:4473] synonym: "sarcomatoid renal cell cancer" EXACT [NCIT:C27893] -synonym: "sarcomatoid renal cell carcinoma" EXACT [NCIT:C27893] +synonym: "sarcomatoid renal cell carcinoma" EXACT [DOID:4473, NCIT:C27893] synonym: "SRCC" RELATED ABBREVIATION [ONCOTREE:SRCC] xref: DOID:4473 {source="MONDO:equivalentTo"} xref: ICDO:8318/3 {source="NCIT:C27893"} @@ -54570,7 +54572,7 @@ def: "An inflammation of the mucous membrane lining the nose, usually associated subset: otar {source="MONDO:OTAR"} synonym: "inflammation of nasal cavity mucosa" EXACT [] synonym: "nasal cavity mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "runny nose" RELATED [DOID:4483] +synonym: "runny nose" RELATED [] xref: DOID:4483 {source="MONDO:equivalentTo"} xref: EFO:0008521 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:J30 {source="MONDO:equivalentTo"} @@ -54603,8 +54605,8 @@ def: "A malignant form of peritoneal solitary fibrous tumor." [MONDO:patterns/ma subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "peritoneal solitary fibrous tumor, malignant" EXACT [MONDO:patterns/malignant] -synonym: "pleural and peritoneal solitary fibrous tumor" EXACT [DOID:4490, NCIT:C6893] -synonym: "pleural and peritoneal solitary fibrous tumour" EXACT OMO:0003005 [] +synonym: "pleural and peritoneal solitary fibrous tumor" EXACT [DOID:4490] +synonym: "pleural and peritoneal solitary fibrous tumour" EXACT OMO:0003005 [DOID:4490] xref: DOID:4490 {source="MONDO:equivalentTo"} is_a: MONDO:0002087 {source="DOID:4490"} ! peritoneum cancer intersection_of: MONDO:0037737 ! peritoneal solitary fibrous tumor @@ -54622,9 +54624,9 @@ name: potassium deficiency disease def: "Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia." [NCIT:P378] comment: Editor note: NCIT hypokalemia is a finding. We use potassium deficiency disorder for equivalence but this is listed as nutritional in NCIT subset: otar {source="MONDO:OTAR"} -synonym: "hypokalemia" EXACT [MONDO:ambiguous] -synonym: "hypopotassemia" RELATED [DOID:4500] -synonym: "potassium deficiency disorder" RELATED [DOID:4500] +synonym: "hypokalemia" EXACT [DOID:4500, ICD10CM:E87.6, MONDO:ambiguous] +synonym: "hypopotassemia" RELATED [] +synonym: "potassium deficiency disorder" RELATED [] xref: DOID:4500 {source="MONDO:equivalentTo"} xref: HP:0002900 {source="MONDO:otherHierarchy"} xref: ICD10CM:E87.6 {source="MONDO:equivalentTo"} @@ -54657,7 +54659,7 @@ synonym: "angiosarcoma of central nervous system" EXACT [NCIT:C5450] synonym: "angiosarcoma of CNS" EXACT [NCIT:C5450] synonym: "angiosarcoma of the central nervous system" EXACT [NCIT:C5450] synonym: "angiosarcoma of the CNS" EXACT [NCIT:C5450] -synonym: "central nervous system angiosarcoma" EXACT [NCIT:C5450] +synonym: "central nervous system angiosarcoma" EXACT [DOID:4504, NCIT:C5450] synonym: "central nervous system angiosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "central nervous system hemangiosarcoma" EXACT [NCIT:C5450] synonym: "CNS angiosarcoma" EXACT [NCIT:C5450] @@ -54681,14 +54683,14 @@ name: pediatric angiosarcoma def: "An angiosarcoma occurring in childhood." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "angiosarcoma" BROAD [NCIT:C9174] +synonym: "angiosarcoma" BROAD [] synonym: "angiosarcoma (disease) of childhood" EXACT [MONDO:patterns/childhood] -synonym: "childhood angiosarcoma" EXACT [NCIT:C9174] +synonym: "childhood angiosarcoma" EXACT [DOID:4505, NCIT:C9174] synonym: "childhood angiosarcoma (disease)" EXACT [] synonym: "childhood hemangiosarcoma" EXACT [NCIT:C9174] synonym: "paediatric angiosarcoma (disease)" EXACT OMO:0003005 [] -synonym: "paediatric hemangiosarcoma" EXACT OMO:0003005 [] -synonym: "pediatric angiosarcoma" EXACT [NCIT:C9174] +synonym: "paediatric hemangiosarcoma" EXACT OMO:0003005 [DOID:4505] +synonym: "pediatric angiosarcoma" EXACT [DOID:4505, NCIT:C9174] synonym: "pediatric angiosarcoma (disease)" EXACT [MONDO:patterns/childhood] synonym: "pediatric hemangiosarcoma" EXACT [DOID:4505, NCIT:C9174] xref: DOID:4505 {source="MONDO:equivalentTo"} @@ -54732,7 +54734,7 @@ synonym: "angiosarcoma (disease) of breast" EXACT [] synonym: "angiosarcoma of breast" EXACT [NCIT:C5184] synonym: "angiosarcoma of the breast" EXACT [NCIT:C5184] synonym: "BA" RELATED ABBREVIATION [ONCOTREE:BA] -synonym: "breast angiosarcoma" EXACT [NCIT:C5184] +synonym: "breast angiosarcoma" EXACT [DOID:4511, NCIT:C5184] synonym: "breast angiosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "breast hemangiosarcoma" EXACT [NCIT:C5184] synonym: "hemangiosarcoma of breast" EXACT [NCIT:C5184] @@ -54756,7 +54758,7 @@ name: conventional angiosarcoma def: "An angiosarcoma characterized by the presence of malignant spindle endothelial cells." [NCIT:C9426] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "conventional angiosarcoma" EXACT [NCIT:C9426] +synonym: "conventional angiosarcoma" EXACT [DOID:4512, NCIT:C9426] xref: DOID:4512 {source="MONDO:equivalentTo"} xref: MEDGEN:234174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9426 {source="DOID:4512", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -54773,7 +54775,7 @@ synonym: "angiosarcoma (disease) of gall bladder" EXACT [] synonym: "angiosarcoma of gallbladder" EXACT [NCIT:C5840] synonym: "angiosarcoma of the gallbladder" EXACT [NCIT:C5840] synonym: "gall bladder angiosarcoma (disease)" EXACT [MONDO:patterns/location] -synonym: "gallbladder angiosarcoma" EXACT [NCIT:C5840] +synonym: "gallbladder angiosarcoma" EXACT [DOID:4513, NCIT:C5840] synonym: "gallbladder hemangiosarcoma" EXACT [NCIT:C5840] synonym: "hemangiosarcoma of gallbladder" EXACT [DOID:4513, NCIT:C5840] synonym: "hemangiosarcoma of the gallbladder" EXACT [NCIT:C5840] @@ -54801,7 +54803,7 @@ synonym: "hemangiosarcoma of the thyroid" EXACT [DOID:4514, NCIT:C6043] synonym: "hemangiosarcoma of the thyroid gland" EXACT [NCIT:C6043] synonym: "hemangiosarcoma of thyroid" EXACT [NCIT:C6043] synonym: "hemangiosarcoma of thyroid gland" EXACT [NCIT:C6043] -synonym: "thyroid angiosarcoma" EXACT [NCIT:C6043] +synonym: "thyroid angiosarcoma" EXACT [DOID:4514, NCIT:C6043] synonym: "thyroid gland angiosarcoma" EXACT [NCIT:C6043] synonym: "thyroid gland angiosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "thyroid gland hemangiosarcoma" EXACT [NCIT:C6043] @@ -54828,7 +54830,7 @@ synonym: "sarcoma of the thyroid gland" EXACT [DOID:4515, NCIT:C6041] synonym: "sarcoma of thyroid" EXACT [NCIT:C6041] synonym: "sarcoma of thyroid gland" EXACT [MONDO:patterns/sarcoma, NCIT:C6041] synonym: "thyroid gland sarcoma" EXACT [MONDO:patterns/location, NCIT:C6041] -synonym: "thyroid sarcoma" EXACT [NCIT:C6041] +synonym: "thyroid sarcoma" EXACT [DOID:4515, NCIT:C6041] xref: DOID:4515 {source="MONDO:equivalentTo"} xref: MEDGEN:234950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6041 {source="MONDO:equivalentTo", source="DOID:4515"} @@ -54847,11 +54849,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "angiosarcoma (disease) of zone of skin" EXACT [] -synonym: "angiosarcoma of skin" EXACT [NCIT:C4489] +synonym: "angiosarcoma of skin" EXACT [DOID:4517, NCIT:C4489] synonym: "angiosarcoma of the skin" EXACT [NCIT:C4489] synonym: "hemangiosarcoma of skin" EXACT [NCIT:C4489] synonym: "hemangiosarcoma of the skin" EXACT [DOID:4517, NCIT:C4489] -synonym: "skin angiosarcoma" EXACT [NCIT:C4489] +synonym: "skin angiosarcoma" EXACT [DOID:4517, NCIT:C4489] synonym: "skin hemangiosarcoma" EXACT [NCIT:C4489] synonym: "zone of skin angiosarcoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:4517 {source="MONDO:equivalentTo"} @@ -54870,7 +54872,7 @@ name: endometrioid stromal sarcoma of the cervix def: "A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." [NCIT:C40220] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cervical endometrial stromal sarcoma" RELATED [DOID:4520] +synonym: "cervical endometrial stromal sarcoma" RELATED [] synonym: "endometrial stromal sarcoma of the cervix" EXACT [DOID:4520] synonym: "endometrioid stromal sarcoma of the cervix" EXACT [NCIT:C40220] synonym: "endometrioid stromal sarcoma of uterine cervix" EXACT [MONDO:design_pattern] @@ -54887,7 +54889,7 @@ intersection_of: disease_has_location UBERON:0000002 ! uterine cervix id: MONDO:0003031 name: endometrioid stromal and related neoplasms of the cervix def: "A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma." [NCIT:C40218] -synonym: "cervix endometrial stromal tumor" RELATED [DOID:4521] +synonym: "cervix endometrial stromal tumor" RELATED [] synonym: "cervix endometrial stromal tumour" RELATED OMO:0003005 [] synonym: "endometrioid stromal and related neoplasms of the cervix" EXACT [NCIT:C40218] synonym: "endometrioid stromal and related tumors of the cervix" EXACT [NCIT:C40218] @@ -54930,7 +54932,7 @@ synonym: "angiosarcoma of prostate" EXACT [NCIT:C5528] synonym: "angiosarcoma of the prostate" EXACT [NCIT:C5528] synonym: "hemangiosarcoma of prostate" EXACT [NCIT:C5528] synonym: "hemangiosarcoma of the prostate" EXACT [NCIT:C5528] -synonym: "prostate angiosarcoma" EXACT [NCIT:C5528] +synonym: "prostate angiosarcoma" EXACT [DOID:4524, NCIT:C5528] synonym: "prostate gland angiosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "prostate hemangiosarcoma" EXACT [NCIT:C5528] synonym: "prostatic angiosarcoma" EXACT [NCIT:C5528] @@ -55001,9 +55003,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MEC" EXACT ABBREVIATION [DOID:4531, NCIT:C3772] synonym: "MUCC" RELATED ABBREVIATION [ONCOTREE:MUCC] -synonym: "mucoepidermoid carcinoma" EXACT [NCIT:C3772] -synonym: "mucoepidermoid carcinoma (morphologic abnormality)" EXACT [DOID:4531] -synonym: "mucoepidermoid tumor" EXACT [EFO:1001049, MESH:D018298] +synonym: "mucoepidermoid carcinoma" EXACT [DOID:4531, NCIT:C3772] +synonym: "mucoepidermoid carcinoma (morphologic abnormality)" EXACT [] +synonym: "mucoepidermoid tumor" EXACT [EFO:1001049, MESH:D018298, NCIT:C3772] synonym: "mucoepidermoid tumors" RELATED [MESH:D018298] synonym: "mucoepidermoid tumour" EXACT OMO:0003005 [] synonym: "mucoepidermoid tumours" RELATED OMO:0003005 [] @@ -55050,7 +55052,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:605389"} ! inheri id: MONDO:0003038 name: dysgraphia def: "Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994)" [MESH:D000381] -synonym: "dysgraphia" EXACT [MONDO:ambiguous] +synonym: "dysgraphia" EXACT [DOID:4540, MONDO:ambiguous, NCIT:C182452] synonym: "dysgraphia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4540 {source="MONDO:equivalentTo"} xref: HP:0010526 {source="MONDO:otherHierarchy"} @@ -55071,7 +55073,7 @@ name: nominal aphasia def: "Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people." [NCIT:P378] synonym: "anomia" EXACT [DOID:4541] synonym: "anomic aphasia" EXACT [DOID:4541] -synonym: "anomic aphasia (finding)" EXACT [DOID:4541] +synonym: "anomic aphasia (finding)" EXACT [] xref: DOID:4541 {source="MONDO:equivalentTo"} xref: MEDGEN:312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D000849 {source="DOID:4541", source="MONDO:equivalentTo"} @@ -55102,10 +55104,10 @@ name: pediatric mesenchymal chondrosarcoma def: "A mesenchymal chondrosarcoma occurring in children." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood mesenchymal chondrosarcoma" EXACT [NCIT:C27374] -synonym: "mesenchymal chondrosarcoma" BROAD [NCIT:C27374] +synonym: "childhood mesenchymal chondrosarcoma" EXACT [DOID:4546, NCIT:C27374] +synonym: "mesenchymal chondrosarcoma" BROAD [] synonym: "mesenchymal chondrosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "pediatric mesenchymal chondrosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C27374] +synonym: "pediatric mesenchymal chondrosarcoma" EXACT [DOID:4546, MONDO:patterns/childhood, NCIT:C27374] xref: DOID:4546 {source="MONDO:equivalentTo"} xref: MEDGEN:232063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27374 {source="MONDO:equivalentTo", source="DOID:4546"} @@ -55120,7 +55122,7 @@ name: adult mesenchymal chondrosarcoma def: "A mesenchymal chondrosarcoma occurring in adults." [NCIT:C27375] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult mesenchymal chondrosarcoma" EXACT [NCIT:C27375] +synonym: "adult mesenchymal chondrosarcoma" EXACT [DOID:4547, NCIT:C27375] synonym: "mesenchymal chondrosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:4547 {source="MONDO:equivalentTo"} xref: MEDGEN:272296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -55135,8 +55137,8 @@ id: MONDO:0003043 name: obsolete extraskeletal mesenchymal chondrosarcoma def: "OBSOLETE. A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage." [NCIT:P378] comment: Obsolete in NCIT. -synonym: "mesenchymal extraosseous chondrosarcoma" EXACT [DOID:4548, NCIT:C27481] -synonym: "mesenchymal extraskeletal chondrosarcoma" EXACT [NCIT:C27481] +synonym: "mesenchymal extraosseous chondrosarcoma" EXACT [] +synonym: "mesenchymal extraskeletal chondrosarcoma" EXACT [] xref: DOID:4548 {source="MONDO:obsoleteEquivalent"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27481 {source="MONDO:obsoleteEquivalent", source="DOID:4548"} @@ -55213,14 +55215,14 @@ name: thymic large cell neuroendocrine carcinoma def: "An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis." [NCIT:C6461] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "large cell carcinoma of the Thymus" EXACT [DOID:4553, NCIT:C6461] +synonym: "large cell carcinoma of the Thymus" EXACT [DOID:4553] synonym: "large cell neuroendocrine carcinoma of the Thymus" EXACT [NCIT:C6461] synonym: "large cell neuroendocrine carcinoma of Thymus" EXACT [NCIT:C6461] -synonym: "large cell neuroendocrine carcinoma of thymus" EXACT [] +synonym: "large cell neuroendocrine carcinoma of thymus" EXACT [NCIT:C6461] synonym: "thymic large cell neuroendocrine carcinoma" EXACT [NCIT:C6461] synonym: "thymic LCNEC" EXACT [NCIT:C6461] -synonym: "Thymus large cell carcinoma" EXACT [NCIT:C6461] -synonym: "thymus large cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "Thymus large cell carcinoma" EXACT [DOID:4553] +synonym: "thymus large cell carcinoma" EXACT [DOID:4553, MONDO:patterns/location] synonym: "thymus large cell neuroendocrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:4553 {source="MONDO:equivalentTo"} xref: MEDGEN:235250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -55273,13 +55275,13 @@ alt_id: MONDO:0006024 def: "A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection." [NCIT:C4450] subset: otar {source="MONDO:OTAR"} synonym: "anaplastic lung carcinoma" EXACT [NCIT:C4450] -synonym: "large cell carcinoma of lung" EXACT [NCIT:C4450] +synonym: "large cell carcinoma of lung" EXACT [DOID:4556, NCIT:C4450] synonym: "large cell carcinoma of the lung" EXACT [NCIT:C4450] synonym: "large cell lung cancer" EXACT [NCIT:C4450] synonym: "large cell lung carcinoma" EXACT [DOID:4556, NCIT:C4450] synonym: "large cell undifferentiated lung carcinoma" EXACT [NCIT:C4450] synonym: "LCLC" RELATED ABBREVIATION [ONCOTREE:LCLC] -synonym: "lung large cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "lung large cell carcinoma" EXACT [DOID:4556, MONDO:patterns/location, NCIT:C4450] xref: DOID:4556 {source="MONDO:equivalentTo"} xref: EFO:0003050 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -55297,7 +55299,7 @@ intersection_of: disease_has_location UBERON:0002048 ! lung id: MONDO:0003051 name: non specific chronic endometritis def: "Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present." [NCIT:C27625] -synonym: "non specific chronic endometritis" EXACT [NCIT:C27625] +synonym: "non specific chronic endometritis" EXACT [DOID:4560, NCIT:C27625] xref: DOID:4560 {source="MONDO:equivalentTo"} xref: MEDGEN:235394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27625 {source="MONDO:equivalentTo", source="DOID:4560"} @@ -55309,7 +55311,7 @@ is_a: MONDO:0024279 {source="NCIT:C27625"} ! chronic endometritis id: MONDO:0003052 name: granulomatous endometritis def: "Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis." [NCIT:C27626] -synonym: "granulomatous endometritis" EXACT [NCIT:C27626] +synonym: "granulomatous endometritis" EXACT [DOID:4561, NCIT:C27626] xref: DOID:4561 {source="MONDO:equivalentTo"} xref: MEDGEN:234322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27626 {source="MONDO:equivalentTo", source="DOID:4561"} @@ -55323,11 +55325,11 @@ name: choroid plexus meningioma def: "A meningioma that affects the choroid plexus." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "choroid meningioma (morphologic abnormality)" EXACT [DOID:4584] -synonym: "choroid plexus meningioma" EXACT [NCIT:C4719] +synonym: "choroid meningioma (morphologic abnormality)" EXACT [] +synonym: "choroid plexus meningioma" EXACT [DOID:4584, NCIT:C4719] synonym: "choroid plexus meningioma (disease)" EXACT [MONDO:patterns/location] synonym: "meningioma (disease) of choroid plexus" EXACT [] -synonym: "meningioma of choroid plexus" RELATED [NCIT:C4719] +synonym: "meningioma of choroid plexus" RELATED [] synonym: "meningioma of the choroid plexus" EXACT [DOID:4584, NCIT:C4719] xref: DOID:4584 {source="MONDO:equivalentTo"} xref: MEDGEN:98458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -55366,7 +55368,7 @@ def: "A WHO grade I meningioma characterized by the presence of epithelial diffe subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "secretory meningioma" EXACT [DOID:4588, NCIT:C4718] -synonym: "secretory meningioma (morphologic abnormality)" EXACT [DOID:4588] +synonym: "secretory meningioma (morphologic abnormality)" EXACT [] xref: DOID:4588 {source="MONDO:equivalentTo"} xref: MEDGEN:277998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D008579 {source="DOID:4588"} @@ -55384,7 +55386,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "lymphoplasmacyte-rich meningioma" EXACT [DOID:4591, NCIT:C4720] synonym: "lymphoplasmocyte-rich meningioma" EXACT [DOID:4591] -synonym: "lymphoplasmocyte-rich meningioma (morphologic abnormality)" EXACT [DOID:4591] +synonym: "lymphoplasmocyte-rich meningioma (morphologic abnormality)" EXACT [] xref: DOID:4591 {source="MONDO:equivalentTo"} xref: MEDGEN:140907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4720 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4591"} @@ -55399,12 +55401,12 @@ name: pediatric meningioma def: "A meningioma that occurs during childhood." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood meningioma" EXACT [NCIT:C8264] +synonym: "childhood meningioma" EXACT [DOID:4593, NCIT:C8264] synonym: "childhood meningioma (disease)" EXACT [] -synonym: "meningioma" BROAD [NCIT:C8264] +synonym: "meningioma" BROAD [] synonym: "meningioma (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "paediatric meningioma (disease)" EXACT OMO:0003005 [] -synonym: "pediatric meningioma" EXACT [NCIT:C8264] +synonym: "pediatric meningioma" EXACT [DOID:4593, NCIT:C8264] synonym: "pediatric meningioma (disease)" EXACT [MONDO:patterns/childhood] xref: DOID:4593 {source="MONDO:equivalentTo"} xref: MEDGEN:79156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -55422,7 +55424,7 @@ def: "A WHO grade I meningioma characterized by the presence of intercellular mi subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "microcystic meningioma" EXACT [DOID:4594, NCIT:C4721] -synonym: "microcystic meningioma (morphologic abnormality)" EXACT [DOID:4594] +synonym: "microcystic meningioma (morphologic abnormality)" EXACT [] xref: DOID:4594 {source="MONDO:equivalentTo"} xref: MEDGEN:234616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D008579 {source="DOID:4594"} @@ -55439,14 +55441,14 @@ def: "A malignant neoplasm involving the bile duct" [https://orcid.org/0000-0002 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bile duct cancer" EXACT [MONDO:patterns/location] -synonym: "bile duct tumor" BROAD [DOID:4606, NCIT:C2898] +synonym: "bile duct cancer" EXACT [DOID:4606, MONDO:patterns/location] +synonym: "bile duct tumor" BROAD [] synonym: "bile duct tumour" BROAD OMO:0003005 [] synonym: "Ca extrahepatic bile ducts" EXACT [DOID:4606] synonym: "cancer of bile duct" EXACT [MONDO:patterns/cancer] synonym: "malignant bile duct neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of bile duct" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of the extrahepatic bile duct" NARROW [DOID:4606, NCIT:C7483] +synonym: "malignant neoplasm of the extrahepatic bile duct" NARROW [] xref: DOID:4606 {source="MONDO:equivalentTo"} xref: ICD10CM:C24.0 {source="DOID:4606"} xref: ICD9:156.1 {source="MONDO:relatedTo", source="DOID:4606"} @@ -55474,8 +55476,8 @@ synonym: "biliary tree cancer" EXACT [MONDO:patterns/location] synonym: "cancer of biliary tree" EXACT [MONDO:patterns/cancer] synonym: "malignant biliary tree neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of biliary tree" EXACT [MONDO:patterns/cancer] -synonym: "malignant tumor of biliary tract" EXACT [DOID:4607] -synonym: "malignant tumour of biliary tract" EXACT OMO:0003005 [] +synonym: "malignant tumor of biliary tract" EXACT [] +synonym: "malignant tumour of biliary tract" EXACT OMO:0003005 [DOID:4607] xref: DOID:4607 {source="MONDO:equivalentTo"} xref: GARD:5924 {source="MONDO:GARD"} xref: ICD10CM:C24.9 {source="DOID:4607"} @@ -55502,19 +55504,19 @@ synonym: "benign muscle neoplasm" EXACT [NCIT:C4882] synonym: "benign muscle tumor" EXACT [NCIT:C4882] synonym: "benign muscle tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of muscle" EXACT [NCIT:C4882] -synonym: "benign neoplasm of the muscle" EXACT [NCIT:C4882] +synonym: "benign neoplasm of the muscle" EXACT [DOID:2691, NCIT:C4882] synonym: "benign tumor of muscle" EXACT [NCIT:C4882] synonym: "benign tumor of the muscle" EXACT [NCIT:C4882] synonym: "benign tumour of muscle" EXACT OMO:0003005 [] synonym: "benign tumour of the muscle" EXACT OMO:0003005 [] -synonym: "muscle benign neoplasm" RELATED [DOID:461] -synonym: "muscle neoplasm" BROAD [DOID:461] +synonym: "muscle benign neoplasm" RELATED [] +synonym: "muscle neoplasm" BROAD [] synonym: "muscle tissue neoplasm" EXACT [DOID:461] -synonym: "myoma" EXACT [NCIT:C4882] -synonym: "myomatous neoplasm" RELATED EXCLUDE [DOID:461] -synonym: "myomatous tumor" BROAD [DOID:461, NCIT:C4063] +synonym: "myoma" EXACT [DOID:2691, NCIT:C4882] +synonym: "myomatous neoplasm" RELATED EXCLUDE [] +synonym: "myomatous tumor" BROAD [] synonym: "myomatous tumour" BROAD OMO:0003005 [] -synonym: "neoplasm of muscle" RELATED EXCLUDE [DOID:461] +synonym: "neoplasm of muscle" RELATED EXCLUDE [] xref: DOID:2691 {source="MONDO:equivalentTo"} xref: DOID:461 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: ICD10CM:D21 {source="DOID:2691"} @@ -55584,7 +55586,7 @@ name: inverted transitional cell papilloma def: "A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern." [NCIT:C4118] subset: otar {source="MONDO:OTAR"} synonym: "inverted transitional cell papilloma" EXACT [NCIT:C4118] -synonym: "inverted transitional papilloma" EXACT [NCIT:C4118] +synonym: "inverted transitional papilloma" EXACT [DOID:4630, NCIT:C4118] synonym: "transitional papilloma, inverted" EXACT [DOID:4630] xref: DOID:4630 {source="MONDO:equivalentTo"} xref: ICDO:8121/1 {source="NCIT:C4118"} @@ -55676,7 +55678,7 @@ id: MONDO:0003070 name: axillary lymphadenitis def: "An infection of the lymph nodes in the axilla." [NCIT:C27333] synonym: "axilla lymphadenitis (disease)" EXACT [MONDO:patterns/location] -synonym: "axillary adenitis" RELATED [NCIT:C27333] +synonym: "axillary adenitis" RELATED [] synonym: "axillary lymphadenitis" EXACT [NCIT:C27333] synonym: "lymphadenitis (disease) of axilla" EXACT [] xref: DOID:4640 {source="MONDO:equivalentTo"} @@ -55707,13 +55709,13 @@ synonym: "malignant retina tumour" EXACT OMO:0003005 [] synonym: "malignant retinal neoplasm" EXACT [DOID:4645, NCIT:C3216] synonym: "malignant retinal tumor" EXACT [NCIT:C3216] synonym: "malignant retinal tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of retina" EXACT [NCIT:C3216] +synonym: "malignant tumor of retina" EXACT [DOID:4645, NCIT:C3216] synonym: "malignant tumor of the retina" EXACT [NCIT:C3216] synonym: "malignant tumour of retina" EXACT OMO:0003005 [] synonym: "malignant tumour of the retina" EXACT OMO:0003005 [] -synonym: "neoplasm of retina" BROAD EXCLUDE [DOID:4645] +synonym: "neoplasm of retina" BROAD EXCLUDE [] synonym: "retina cancer" EXACT [MONDO:patterns/location] -synonym: "retinal tumor" BROAD [DOID:4645, NCIT:C4800] +synonym: "retinal tumor" BROAD [] synonym: "retinal tumour" BROAD OMO:0003005 [] xref: DOID:4645 {source="MONDO:equivalentTo"} xref: EFO:0005716 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -55930,8 +55932,8 @@ subset: rare synonym: "mucoepidermoid carcinoma of the Thymus" EXACT [DOID:4678, NCIT:C6457] synonym: "mucoepidermoid carcinoma of Thymus" EXACT [NCIT:C6457] synonym: "thymic mucoepidermoid carcinoma" EXACT [NCIT:C6457] -synonym: "Thymus mucoepidermoid carcinoma" EXACT [NCIT:C6457] -synonym: "thymus mucoepidermoid carcinoma" EXACT [MONDO:patterns/location] +synonym: "Thymus mucoepidermoid carcinoma" EXACT [DOID:4678, NCIT:C6457] +synonym: "thymus mucoepidermoid carcinoma" EXACT [DOID:4678, MONDO:patterns/location, NCIT:C6457] xref: DOID:4678 {source="MONDO:equivalentTo"} xref: MEDGEN:277383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6457 {source="MONDO:equivalentTo", source="DOID:4678"} @@ -55947,9 +55949,9 @@ name: mucoepidermoid breast carcinoma def: "A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare." [NCIT:C5166] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "breast mucoepidermoid carcinoma" EXACT [MONDO:patterns/location] +synonym: "breast mucoepidermoid carcinoma" EXACT [DOID:4679, MONDO:patterns/location, NCIT:C5166] synonym: "mucoepidermoid breast carcinoma" EXACT [NCIT:C5166] -synonym: "mucoepidermoid carcinoma of breast" EXACT [DOID:4679, NCIT:C5166] +synonym: "mucoepidermoid carcinoma of breast" EXACT [NCIT:C5166] synonym: "mucoepidermoid carcinoma of the breast" EXACT [DOID:4679, NCIT:C5166] xref: DOID:4679 {source="MONDO:equivalentTo"} xref: MEDGEN:233721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -55966,7 +55968,7 @@ id: MONDO:0003088 name: intramuscular hemangioma def: "A hemangioma arising from skeletal muscle." [NCIT:C3699] synonym: "intramuscular angioma" EXACT [DOID:468, NCIT:C3699] -synonym: "intramuscular hemangioma (morphologic abnormality)" EXACT [DOID:468] +synonym: "intramuscular hemangioma (morphologic abnormality)" EXACT [] xref: DOID:468 {source="MONDO:equivalentTo"} xref: ICDO:9132/0 {source="NCIT:C3699"} xref: MEDGEN:61450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -55982,7 +55984,7 @@ name: extrahepatic bile duct mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts." [NCIT:C5862] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "bile duct mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C5862] +synonym: "bile duct mucoepidermoid carcinoma" EXACT [DOID:4681, MONDO:patterns/location, NCIT:C5862] synonym: "extrahepatic bile duct mucoepidermoid carcinoma" EXACT [NCIT:C5862] synonym: "mucoepidermoid carcinoma of bile duct" EXACT [NCIT:C5862] synonym: "mucoepidermoid carcinoma of the bile duct" EXACT [DOID:4681, NCIT:C5862] @@ -56002,10 +56004,10 @@ def: "A carcinoma that arises from epithelial cells of the extrahepatic bile duc subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoma of extrahepatic bile duct" EXACT [MONDO:patterns/carcinoma, NCIT:C3860] +synonym: "carcinoma of extrahepatic bile duct" EXACT [DOID:4682, MONDO:patterns/carcinoma, NCIT:C3860] synonym: "carcinoma of the extrahepatic bile duct" EXACT [NCIT:C3860] synonym: "extrahepatic bile duct cancer" EXACT [DOID:4682, NCIT:C3860] -synonym: "extrahepatic bile duct carcinoma" EXACT [MONDO:patterns/location, NCIT:C3860] +synonym: "extrahepatic bile duct carcinoma" EXACT [DOID:4682, MONDO:patterns/location, NCIT:C3860] xref: DOID:4682 {source="MONDO:equivalentTo"} xref: MEDGEN:116036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3860 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4682"} @@ -56025,7 +56027,7 @@ name: cutaneous mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma that involves the zone of skin." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mucoepidermoid skin carcinoma" EXACT [DOID:4683, NCIT:C4472] +synonym: "mucoepidermoid skin carcinoma" EXACT [DOID:4683] synonym: "zone of skin mucoepidermoid carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4683 {source="MONDO:equivalentTo"} xref: MEDGEN:91072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -56043,7 +56045,7 @@ name: lacrimal gland mucoepidermoid carcinoma def: "An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells." [NCIT:C6091] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "lacrimal gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C6091] +synonym: "lacrimal gland mucoepidermoid carcinoma" EXACT [DOID:4685, MONDO:patterns/location, NCIT:C6091] synonym: "mucoepidermoid carcinoma of lacrimal gland" EXACT [NCIT:C6091] synonym: "mucoepidermoid carcinoma of the lacrimal gland" EXACT [DOID:4685, NCIT:C6091] xref: DOID:4685 {source="MONDO:equivalentTo"} @@ -56085,7 +56087,7 @@ name: laryngeal mucoepidermoid carcinoma def: "A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms." [NCIT:C9463] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "laryngeal mucoepidermoid carcinoma" EXACT [NCIT:C9463] +synonym: "laryngeal mucoepidermoid carcinoma" EXACT [DOID:4688, NCIT:C9463] synonym: "laryngeal throat mucoepidermoid cancer" EXACT [NCIT:C9463] synonym: "larynx mucoepidermoid carcinoma" EXACT [MONDO:patterns/location] synonym: "mucoepidermoid carcinoma of larynx" EXACT [DOID:4688, NCIT:C9463] @@ -56103,7 +56105,7 @@ intersection_of: disease_has_location UBERON:0001737 ! larynx id: MONDO:0003096 name: deep hemangioma def: "A hemangioma arising from the deep soft tissues." [NCIT:C6555] -synonym: "deep angioma" EXACT [NCIT:C6555] +synonym: "deep angioma" EXACT [DOID:469, NCIT:C6555] synonym: "deep hemangioma" EXACT [NCIT:C6555] xref: DOID:469 {source="MONDO:equivalentTo"} xref: MEDGEN:232421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -56115,8 +56117,8 @@ is_a: MONDO:0006500 {source="DOID:469", source="NCIT:C6555"} ! hemangioma id: MONDO:0003097 name: childhood mediastinal neurogenic neoplasm synonym: "childhood mediastinal neurogenic neoplasm" EXACT [NCIT:C5429] -synonym: "childhood mediastinal neurogenic tumor" EXACT [NCIT:C5429] -synonym: "childhood mediastinal neurogenic tumour" EXACT OMO:0003005 [] +synonym: "childhood mediastinal neurogenic tumor" EXACT [DOID:4690, NCIT:C5429] +synonym: "childhood mediastinal neurogenic tumour" EXACT OMO:0003005 [DOID:4690] synonym: "childhood neurogenic neoplasm of mediastinum" EXACT [NCIT:C5429] synonym: "childhood neurogenic neoplasm of the mediastinum" EXACT [NCIT:C5429] synonym: "childhood neurogenic tumor of mediastinum" EXACT [NCIT:C5429] @@ -56127,7 +56129,7 @@ synonym: "paediatric mediastinal neurogenic neoplasm" EXACT OMO:0003005 [] synonym: "paediatric mediastinal neurogenic tumour" EXACT OMO:0003005 [] synonym: "paediatric neurogenic neoplasm of mediastinum" EXACT OMO:0003005 [] synonym: "paediatric neurogenic neoplasm of the mediastinum" EXACT OMO:0003005 [] -synonym: "paediatric neurogenic tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "paediatric neurogenic tumour of mediastinum" EXACT OMO:0003005 [DOID:4690] synonym: "paediatric neurogenic tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "pediatric mediastinal neurogenic neoplasm" EXACT [NCIT:C5429] synonym: "pediatric mediastinal neurogenic tumor" EXACT [NCIT:C5429] @@ -56149,7 +56151,7 @@ intersection_of: has_characteristic HP:0011463 {source="NCIT:C5429"} ! Childhood id: MONDO:0003098 name: mediastinal neural neoplasm def: "A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma." [NCIT:C6624] -synonym: "malignant mediastinal neurogenic neoplasm" RELATED [DOID:4691] +synonym: "malignant mediastinal neurogenic neoplasm" RELATED [] synonym: "mediastinal neural neoplasm" EXACT [NCIT:C6624] synonym: "mediastinal neural tumor" EXACT [NCIT:C6624] synonym: "mediastinal neural tumour" EXACT OMO:0003005 [] @@ -56185,7 +56187,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "neoplasm of nerve plexus" EXACT [MONDO:patterns/neoplasm, NCIT:C5822] synonym: "neoplasm of the nerve plexus" EXACT [NCIT:C5822] -synonym: "nerve plexus neoplasm" EXACT [NCIT:C5822] +synonym: "nerve plexus neoplasm" EXACT [DOID:4693, NCIT:C5822] synonym: "nerve plexus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nerve plexus neoplasms" EXACT [NCIT:C5822] synonym: "nerve plexus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5822] @@ -56224,19 +56226,19 @@ id: MONDO:0003103 name: nerve root neoplasm def: "Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression." [NCIT:P378] synonym: "neoplasm of nerve Root" EXACT [NCIT:C5119] -synonym: "neoplasm of nerve root" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of nerve root" EXACT [MONDO:patterns/neoplasm, NCIT:C5119] synonym: "neoplasm of the nerve Root" EXACT [NCIT:C5119] synonym: "neoplasms, nerve Root" EXACT [NCIT:C5119] synonym: "nerve root neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nerve Root neoplasms" EXACT [NCIT:C5119] synonym: "nerve Root tumor" EXACT [NCIT:C5119] -synonym: "nerve root tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "nerve root tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5119] synonym: "nerve Root tumors" EXACT [NCIT:C5119] synonym: "nerve Root tumour" EXACT OMO:0003005 [] synonym: "nerve root tumour" EXACT OMO:0003005 [] synonym: "nerve Root tumours" EXACT OMO:0003005 [] synonym: "tumor of nerve Root" EXACT [DOID:4698, NCIT:C5119] -synonym: "tumor of nerve root" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of nerve root" EXACT [DOID:4698, MONDO:patterns/neoplasm, NCIT:C5119] synonym: "tumor of the nerve Root" EXACT [NCIT:C5119] synonym: "tumour of nerve Root" EXACT OMO:0003005 [] synonym: "tumour of nerve root" EXACT OMO:0003005 [] @@ -56254,9 +56256,9 @@ id: MONDO:0003104 name: epicardium cancer def: "A malignant neoplasm involving the epicardium." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of epicardium" EXACT [MONDO:patterns/cancer] -synonym: "epicardial tumor" BROAD [DOID:4699, NCIT:C5347] +synonym: "epicardial tumor" BROAD [] synonym: "epicardial tumour" BROAD OMO:0003005 [] -synonym: "epicardium cancer" EXACT [MONDO:patterns/location] +synonym: "epicardium cancer" EXACT [DOID:4699, MONDO:patterns/location] synonym: "malignant epicardial neoplasm" EXACT [NCIT:C4568] synonym: "malignant epicardial tumor" EXACT [DOID:4699, NCIT:C4568] synonym: "malignant epicardial tumour" EXACT OMO:0003005 [] @@ -56288,7 +56290,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of prostate gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of prostate gland" EXACT [] synonym: "disorder of prostate gland" EXACT [MONDO:patterns/location_top] -synonym: "prostate disease" EXACT [NCIT:C26865] +synonym: "prostate disease" EXACT [DOID:47, NCIT:C26865] synonym: "prostate disorder" EXACT [NCIT:C26865] synonym: "prostate gland disease" EXACT [MONDO:patterns/location] synonym: "prostate gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -56317,7 +56319,7 @@ replaced_by: MONDO:0018734 id: MONDO:0003107 name: infratentorial cancer def: "Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces." [NCIT:P378] -synonym: "brain neoplasm, infratentorial" BROAD [DOID:4706, NCIT:C3139] +synonym: "brain neoplasm, infratentorial" BROAD [] synonym: "infratentorial neoplasms, malignant" EXACT [NCIT:C4966] synonym: "malignant infratentorial neoplasm" EXACT [NCIT:C4966] synonym: "malignant infratentorial tumor" EXACT [NCIT:C4966] @@ -56382,7 +56384,7 @@ synonym: "hemangioma of skin" EXACT [NCIT:C4905] synonym: "hemangioma of the skin" EXACT [NCIT:C4905] synonym: "hemangioma of zone of skin" EXACT [MONDO:design_pattern] synonym: "skin angioma" EXACT [NCIT:C4905] -synonym: "skin hemangioma" EXACT [NCIT:C4905] +synonym: "skin hemangioma" EXACT [DOID:471, NCIT:C4905] synonym: "zone of skin hemangioma" EXACT [MONDO:patterns/location] xref: DOID:471 {source="MONDO:equivalentTo"} xref: MEDGEN:151951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -56408,12 +56410,12 @@ subset: ordo_disorder {source="Orphanet:100075"} subset: orphanet_rare {source="Orphanet:100075"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gastric neuroendocrine neoplasm" EXACT [NCIT:C5696] +synonym: "gastric neuroendocrine neoplasm" EXACT [DOID:4715, NCIT:C5696] synonym: "NET of stomach" EXACT [Orphanet:100075] synonym: "neuroendocrine neoplasm of stomach" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5696] synonym: "neuroendocrine neoplasm of the stomach" EXACT [NCIT:C5696] -synonym: "neuroendocrine tumor of stomach" RELATED [Orphanet:100075] -synonym: "neuroendocrine tumor of the stomach" EXACT [DOID:4715, NCIT:C5696] +synonym: "neuroendocrine tumor of stomach" RELATED [] +synonym: "neuroendocrine tumor of the stomach" EXACT [DOID:4715] synonym: "neuroendocrine tumour of stomach" RELATED OMO:0003005 [] synonym: "neuroendocrine tumour of the stomach" EXACT OMO:0003005 [] synonym: "stomach NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] @@ -56440,10 +56442,10 @@ name: malignant gastric germ cell tumor def: "A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma." [NCIT:C5486] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "germ cell tumor of the stomach" EXACT [DOID:4716, NCIT:C6448] -synonym: "germ cell tumour of the stomach" EXACT OMO:0003005 [] +synonym: "germ cell tumor of the stomach" EXACT [DOID:4716] +synonym: "germ cell tumour of the stomach" EXACT OMO:0003005 [DOID:4716] synonym: "malignant gastric germ cell neoplasm" EXACT [NCIT:C5486] -synonym: "malignant gastric germ cell tumor" EXACT [NCIT:C5486] +synonym: "malignant gastric germ cell tumor" EXACT [DOID:4716, NCIT:C5486] synonym: "malignant germ cell neoplasm of stomach" EXACT [NCIT:C5486] synonym: "malignant germ cell neoplasm of the stomach" EXACT [NCIT:C5486] synonym: "malignant germ cell tumor of stomach" EXACT [NCIT:C5486] @@ -56478,7 +56480,7 @@ synonym: "malignant tumor of extragonadal germ cell" EXACT [NCIT:C8881] synonym: "malignant tumor of the extragonadal germ cell" EXACT [NCIT:C8881] synonym: "malignant tumour of extragonadal germ cell" EXACT OMO:0003005 [] synonym: "malignant tumour of the extragonadal germ cell" EXACT OMO:0003005 [] -synonym: "neoplasm of extragonadal germ cell" RELATED EXCLUDE [DOID:4717] +synonym: "neoplasm of extragonadal germ cell" RELATED EXCLUDE [] synonym: "tumor of extragonadal germ cell" RELATED [DOID:4717] synonym: "tumour of extragonadal germ cell" RELATED OMO:0003005 [] xref: DOID:4717 {source="MONDO:equivalentTo"} @@ -56506,7 +56508,7 @@ synonym: "angioma of subglottis" EXACT [NCIT:C6026] synonym: "angioma of the subglottis" EXACT [NCIT:C6026] synonym: "hemangioma of subglottis" EXACT [NCIT:C6026] synonym: "hemangioma of the subglottis" EXACT [DOID:472, NCIT:C6026] -synonym: "subglottic angioma" EXACT [NCIT:C6026] +synonym: "subglottic angioma" EXACT [DOID:472, NCIT:C6026] synonym: "subglottic hemangioma" EXACT [NCIT:C6026] synonym: "subglottis angioma" EXACT [NCIT:C6026] synonym: "subglottis hemangioma" EXACT [MONDO:patterns/location, NCIT:C6026] @@ -56530,10 +56532,10 @@ id: MONDO:0003117 name: somatoform disorder def: "A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons." [NCIT:C34956] subset: otar {source="MONDO:OTAR"} -synonym: "physiological malfunction arising from mental factor" RELATED [DOID:4737] -synonym: "psychophysiologic disorder" RELATED [DOID:4737] -synonym: "psychosomatic disorder" RELATED [DOID:4737] -synonym: "somatoform disorder" EXACT [NCIT:C34956] +synonym: "physiological malfunction arising from mental factor" RELATED [] +synonym: "psychophysiologic disorder" RELATED [] +synonym: "psychosomatic disorder" RELATED [] +synonym: "somatoform disorder" EXACT [DOID:4737, NCIT:C34956] xref: DOID:4737 {source="MONDO:equivalentTo"} xref: EFO:0009687 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F40-F48 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -56589,20 +56591,20 @@ name: mixed testicular germ cell cancer def: "A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma." [NCIT:C6347] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mixed germ cell neoplasm of testis" RELATED [NCIT:C6347] -synonym: "mixed germ cell neoplasm of the testis" RELATED [NCIT:C6347] +synonym: "mixed germ cell neoplasm of testis" RELATED [] +synonym: "mixed germ cell neoplasm of the testis" RELATED [] synonym: "mixed germ cell tumor" RELATED [ONCOTREE:MGCT] -synonym: "mixed germ cell tumor of testis" RELATED [DOID:4743, NCIT:C6347] -synonym: "mixed germ cell tumor of the testis" RELATED [NCIT:C6347] +synonym: "mixed germ cell tumor of testis" RELATED [] +synonym: "mixed germ cell tumor of the testis" RELATED [] synonym: "mixed germ cell tumour" RELATED OMO:0003005 [] synonym: "mixed germ cell tumour of testis" RELATED OMO:0003005 [] synonym: "mixed germ cell tumour of the testis" RELATED OMO:0003005 [] -synonym: "mixed testicular germ cell tumor" RELATED [DOID:4743] +synonym: "mixed testicular germ cell tumor" RELATED [] synonym: "mixed testicular germ cell tumour" RELATED OMO:0003005 [] -synonym: "testicular germ cell tumor (mixed)" RELATED [NCIT:C6347] +synonym: "testicular germ cell tumor (mixed)" RELATED [] synonym: "testicular germ cell tumour (mixed)" RELATED OMO:0003005 [] -synonym: "testicular mixed germ cell neoplasm" RELATED [NCIT:C6347] -synonym: "testicular mixed germ cell tumor" RELATED [NCIT:C6347] +synonym: "testicular mixed germ cell neoplasm" RELATED [] +synonym: "testicular mixed germ cell tumor" RELATED [] synonym: "testicular mixed germ cell tumour" RELATED OMO:0003005 [] synonym: "testis mixed germ cell tumor" RELATED [MONDO:patterns/location] synonym: "testis mixed germ cell tumour" RELATED OMO:0003005 [] @@ -56673,11 +56675,11 @@ subset: rare synonym: "Leydig cell neoplasm of testis" EXACT [NCIT:C6356] synonym: "Leydig cell neoplasm of the testis" EXACT [NCIT:C6356] synonym: "Leydig cell tumor of testis" EXACT [NCIT:C6356] -synonym: "Leydig cell tumor of the testis" RELATED [NCIT:C6356] +synonym: "Leydig cell tumor of the testis" RELATED [] synonym: "Leydig cell tumour of testis" EXACT OMO:0003005 [] synonym: "Leydig cell tumour of the testis" RELATED OMO:0003005 [] synonym: "testicular Leydig cell neoplasm" EXACT [DOID:4756, NCIT:C6356] -synonym: "testicular Leydig cell tumor" EXACT [NCIT:C6356] +synonym: "testicular Leydig cell tumor" EXACT [DOID:4756, NCIT:C6356] synonym: "testis Leydig cell tumor" EXACT [MONDO:patterns/location] synonym: "testis Leydig cell tumour" EXACT OMO:0003005 [] xref: DOID:4756 {source="MONDO:equivalentTo"} @@ -56699,14 +56701,14 @@ subset: ordo_disorder {source="Orphanet:363489"} subset: orphanet_rare {source="Orphanet:363489"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "sex cord-stromal neoplasm" RELATED [DOID:4757] -synonym: "sex cord-stromal neoplasm of testis" RELATED [NCIT:C6358] -synonym: "sex cord-stromal neoplasm of the testis" RELATED [NCIT:C6358] +synonym: "sex cord-stromal neoplasm" RELATED [] +synonym: "sex cord-stromal neoplasm of testis" RELATED [] +synonym: "sex cord-stromal neoplasm of the testis" RELATED [] synonym: "sex cord-stromal tumor of testis" EXACT [DOID:4757, NCIT:C6358, Orphanet:363489] -synonym: "sex cord-stromal tumor of the testis" RELATED [NCIT:C6358] +synonym: "sex cord-stromal tumor of the testis" RELATED [] synonym: "sex cord-stromal tumour of testis" EXACT OMO:0003005 [] synonym: "sex cord-stromal tumour of the testis" RELATED OMO:0003005 [] -synonym: "testicular sex cord-stromal neoplasm" EXACT [NCIT:C6358] +synonym: "testicular sex cord-stromal neoplasm" EXACT [DOID:4757, NCIT:C6358] synonym: "testicular sex cord-stromal tumor" EXACT [NCIT:C6358, Orphanet:363489] synonym: "testicular sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "testis sex cord-stromal tumor" EXACT [MONDO:patterns/location] @@ -56732,7 +56734,7 @@ def: "A capillary or cavernous hemangioma arising from the breast." [NCIT:C5353] synonym: "angioma of breast" EXACT [NCIT:C5353] synonym: "angioma of the breast" EXACT [DOID:476, NCIT:C5353] synonym: "breast angioma" EXACT [NCIT:C5353] -synonym: "breast hemangioma" EXACT [MONDO:patterns/location, NCIT:C5353] +synonym: "breast hemangioma" EXACT [DOID:476, MONDO:patterns/location, NCIT:C5353] synonym: "hemangioma of breast" EXACT [DOID:476, NCIT:C5353] synonym: "hemangioma of the breast" EXACT [NCIT:C5353] xref: DOID:476 {source="MONDO:equivalentTo"} @@ -56759,7 +56761,7 @@ def: "A pulmonary blastoma composed of a mixture of irregular tubular structures subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "biphasic pulmonary blastoma" EXACT [NCIT:C36054] -synonym: "classic pulmonary blastoma" EXACT [NCIT:C36054] +synonym: "classic pulmonary blastoma" EXACT [DOID:4767, NCIT:C36054] xref: DOID:4767 {source="MONDO:equivalentTo"} xref: MEDGEN:231445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C36054 {source="DOID:4767", source="MONDO:equivalentTo"} @@ -56772,7 +56774,7 @@ name: epithelial predominant pulmonary blastoma def: "A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma." [NCIT:C36053] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "epithelial predominant pulmonary blastoma" EXACT [NCIT:C36053] +synonym: "epithelial predominant pulmonary blastoma" EXACT [DOID:4768, NCIT:C36053] xref: DOID:4768 {source="MONDO:equivalentTo"} xref: MEDGEN:234222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C36053 {source="MONDO:equivalentTo", source="DOID:4768", source="MONDO:exact-label-match"} @@ -56784,8 +56786,8 @@ id: MONDO:0003130 name: mesoblastic nephroma def: "A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult." [MESH:D018201] subset: otar {source="MONDO:OTAR"} -synonym: "mesoblastic nephroma" EXACT [DOID:4772, NCIT:C3731] -synonym: "mesoblastic nephroma (morphologic abnormality)" EXACT [DOID:4772] +synonym: "mesoblastic nephroma" EXACT [] +synonym: "mesoblastic nephroma (morphologic abnormality)" EXACT [] xref: DOID:4772 {source="MONDO:equivalentObsolete"} xref: EFO:0007365 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:236.99 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -56934,12 +56936,12 @@ synonym: "cerebellar Pontine angle PNET" EXACT [NCIT:C5436] synonym: "cerebellar Pontine angle primitive neuroectodermal neoplasm" EXACT [NCIT:C5436] synonym: "cerebellar Pontine angle primitive neuroectodermal tumor" EXACT [NCIT:C5436] synonym: "cerebellar Pontine angle primitive neuroectodermal tumour" EXACT OMO:0003005 [] -synonym: "cerebellopontine angle embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5436] -synonym: "cerebellopontine angle embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5436] +synonym: "cerebellopontine angle embryonal tumor, NOS" RELATED EXCLUDE [] +synonym: "cerebellopontine angle embryonal tumor, not otherwise specified" RELATED EXCLUDE [] synonym: "cerebellopontine angle PNET" EXACT [DOID:4787, NCIT:C5436] -synonym: "cerebellopontine angle primitive neuroectodermal" RELATED [DOID:4787] +synonym: "cerebellopontine angle primitive neuroectodermal" RELATED [] synonym: "cerebellopontine angle primitive neuroectodermal neoplasm" EXACT [NCIT:C5436] -synonym: "cerebellopontine angle primitive neuroectodermal tumor" EXACT [NCIT:C5436] +synonym: "cerebellopontine angle primitive neuroectodermal tumor" EXACT [DOID:4787, NCIT:C5436] synonym: "cerebellopontine angle primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "primitive neuroectodermal neoplasm of C-P angle" EXACT [NCIT:C5436] synonym: "primitive neuroectodermal neoplasm of cerebellar Pontine angle" EXACT [NCIT:C5436] @@ -56973,11 +56975,11 @@ def: "A primitive neuroectodermal tumor that involves the brain." [MONDO:pattern subset: otar {source="MONDO:OTAR"} synonym: "brain primitive neuroectodermal tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "brain primitive neuroectodermal tumour" EXACT OMO:0003005 [] -synonym: "intracranial embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5817] -synonym: "intracranial embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5817] +synonym: "intracranial embryonal tumor, NOS" RELATED EXCLUDE [] +synonym: "intracranial embryonal tumor, not otherwise specified" RELATED EXCLUDE [] synonym: "intracranial PNET" EXACT [DOID:4788, NCIT:C5817] synonym: "intracranial primitive neuroectodermal neoplasm" EXACT [NCIT:C5817] -synonym: "intracranial primitive neuroectodermal tumor" EXACT [NCIT:C5817] +synonym: "intracranial primitive neuroectodermal tumor" EXACT [DOID:4788, NCIT:C5817] synonym: "primitive neuroectodermal tumor of brain" EXACT [MONDO:design_pattern] synonym: "primitive neuroectodermal tumour of brain" EXACT OMO:0003005 [] xref: DOID:4788 {source="MONDO:equivalentTo"} @@ -56994,11 +56996,11 @@ id: MONDO:0003143 name: angiokeratoma def: "A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli)." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "angiokeratoma (morphologic abnormality)" EXACT [DOID:479] -synonym: "angiokeratoma of skin" EXACT [NCIT:C4488] +synonym: "angiokeratoma (morphologic abnormality)" EXACT [] +synonym: "angiokeratoma of skin" EXACT [DOID:479, NCIT:C4488] synonym: "angiokeratoma of the skin" EXACT [NCIT:C4488] synonym: "cutaneous angiokeratoma" EXACT [DOID:479, NCIT:C4488] -synonym: "skin angiokeratoma" EXACT [DOID:479] +synonym: "skin angiokeratoma" EXACT [DOID:479, NCIT:C4488] xref: CSP:2007-0683 {source="DOID:479"} xref: DOID:479 {source="MONDO:equivalentTo"} xref: icd11.foundation:533651286 {source="MONDO:equivalentTo"} @@ -57021,7 +57023,7 @@ subset: rare synonym: "central nervous system medulloepithelioma" EXACT [NCIT:C4327] synonym: "Diktyoma, malignant" EXACT [DOID:4790] synonym: "MDEP" RELATED ABBREVIATION [ONCOTREE:MDEP] -synonym: "medulloepithelioma NOS (morphologic abnormality)" EXACT [DOID:4790] +synonym: "medulloepithelioma NOS (morphologic abnormality)" EXACT [] synonym: "medulloepithelioma of the central nervous system" EXACT [MONDO:0016716] synonym: "medulloepithelioma, central nervous system" EXACT [DOID:4790, NCIT:C4327] xref: DOID:4790 {source="MONDO:equivalentTo"} @@ -57045,12 +57047,12 @@ id: MONDO:0003145 name: supratentorial primitive neuroectodermal tumor def: "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region." [NCIT:P378] synonym: "CNS/supratentorial PNET" EXACT [NCIT:C6968] -synonym: "supratent. primitive neuro. tumor" EXACT [NCIT:C6968] +synonym: "supratent. primitive neuro. tumor" EXACT [] synonym: "supratent. primitive neuro. tumour" EXACT OMO:0003005 [] -synonym: "supratentorial embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C6968] -synonym: "supratentorial embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C6968] +synonym: "supratentorial embryonal tumor, NOS" RELATED EXCLUDE [] +synonym: "supratentorial embryonal tumor, not otherwise specified" RELATED EXCLUDE [] synonym: "supratentorial PNET" EXACT [DOID:4791, NCIT:C6968] -synonym: "supratentorial primitive neuroectodermal tumor" EXACT [NCIT:C6968] +synonym: "supratentorial primitive neuroectodermal tumor" EXACT [DOID:4791, NCIT:C6968] xref: DOID:4791 {source="MONDO:equivalentTo"} xref: ICD9:209.30 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:234914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -57104,10 +57106,10 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of male reproductive system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of male reproductive system" EXACT [] synonym: "disorder of Male reproductive system" EXACT [NCIT:C27019] -synonym: "disorder of male reproductive system" EXACT [MONDO:patterns/location_top] -synonym: "male reproductive disease" EXACT [DOID:48] -synonym: "Male reproductive system disease" EXACT [NCIT:C27019] -synonym: "male reproductive system disease" EXACT [MONDO:patterns/location] +synonym: "disorder of male reproductive system" EXACT [MONDO:patterns/location_top, NCIT:C27019] +synonym: "male reproductive disease" EXACT [] +synonym: "Male reproductive system disease" EXACT [DOID:48, NCIT:C27019] +synonym: "male reproductive system disease" EXACT [DOID:48, MONDO:patterns/location, NCIT:C27019] synonym: "male reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Male reproductive system disorder" EXACT [NCIT:C27019] xref: DOID:48 {source="MONDO:equivalentTo"} @@ -57144,7 +57146,7 @@ name: adult brainstem gliosarcoma subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult brain stem gliosarcoma" EXACT [DOID:4812, NCIT:C9370] -synonym: "adult brainstem gliosarcoma" EXACT [NCIT:C9370] +synonym: "adult brainstem gliosarcoma" EXACT [DOID:4812] xref: DOID:4812 {source="MONDO:equivalentTo"} xref: MEDGEN:277992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9370 {source="MONDO:equivalentTo", source="DOID:4812"} @@ -57157,12 +57159,12 @@ name: adult brainstem glioma def: "A brain stem glioma that occurs in an adult." [MONDO:design_pattern] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult brain stem glioma" EXACT [NCIT:C9091] +synonym: "adult brain stem glioma" EXACT [DOID:4813, NCIT:C9091] synonym: "adult brainstem glioma" EXACT [NCIT:C9091] synonym: "adult brainstem neuroglial neoplasm" EXACT [NCIT:C9091] synonym: "adult brainstem neuroglial tumor" EXACT [DOID:4813, NCIT:C9091] synonym: "adult brainstem neuroglial tumour" EXACT OMO:0003005 [] -synonym: "brain stem glioma" BROAD [NCIT:C9091] +synonym: "brain stem glioma" BROAD [] synonym: "brain stem glioma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "glioma of adult brain stem" EXACT [NCIT:C9091] synonym: "glioma of the adult brain stem" EXACT [NCIT:C9091] @@ -57180,7 +57182,7 @@ id: MONDO:0003154 name: hemangioma of peripheral nerve def: "A hemangioma arising from the peripheral nerves." [NCIT:C27507] synonym: "hemangioma of nerve" EXACT [MONDO:design_pattern] -synonym: "hemangioma of peripheral nerve" EXACT [NCIT:C27507] +synonym: "hemangioma of peripheral nerve" EXACT [DOID:482, NCIT:C27507] synonym: "nerve hemangioma" EXACT [MONDO:patterns/location] xref: DOID:482 {source="MONDO:equivalentTo"} xref: MEDGEN:232595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -57204,8 +57206,8 @@ subset: rare synonym: "cavernoma" EXACT [DOID:483, NCIT:C3086] synonym: "cavernous angioma" EXACT [NCIT:C3086] synonym: "cavernous haemangioma" EXACT [DOID:483] -synonym: "cavernous hemangioma" EXACT [NCIT:C3086] -synonym: "cavernous hemangioma (morphologic abnormality)" EXACT [DOID:483] +synonym: "cavernous hemangioma" EXACT [DOID:483, NCIT:C3086] +synonym: "cavernous hemangioma (morphologic abnormality)" EXACT [] xref: DOID:483 {source="MONDO:equivalentTo"} xref: EFO:1000151 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0001048 {source="MONDO:otherHierarchy"} @@ -57237,10 +57239,10 @@ name: disappearing bone disease def: "Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal." [MESH:D010015] subset: otar {source="MONDO:OTAR"} synonym: "essential osteolysis" EXACT [DOID:4837] -synonym: "Gorham disease" RELATED EXCLUDE [DOID:4837] +synonym: "Gorham disease" RELATED EXCLUDE [] synonym: "Gorham's disease" RELATED [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Gorham-Stout syndrome" RELATED [DOID:4837] -synonym: "massive osteolysis" RELATED [DOID:4837] +synonym: "massive osteolysis" RELATED [] synonym: "phantom bone disease" EXACT [DOID:4837] xref: DOID:4837 {source="MONDO:equivalentTo"} xref: ICD9:733.09 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -57259,7 +57261,7 @@ name: malignant myoepithelioma def: "An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma." [NCIT:C7596] subset: otar {source="MONDO:OTAR"} synonym: "malignant myoepithelioma" EXACT [GARD:0010558, NCIT:C7596] -synonym: "myoepithelial carcinoma" EXACT [NCIT:C7596] +synonym: "myoepithelial carcinoma" EXACT [DOID:4838, NCIT:C7596] synonym: "myoepithelioma carcinoma" RELATED [GARD:0010558] synonym: "myoepithelioma, malignant" EXACT [NCIT:C7596] synonym: "soft tissue myoepithelial carcinoma" RELATED [ONCOTREE:STMYEC] @@ -57323,7 +57325,7 @@ id: MONDO:0003163 name: cauda equina intradural extramedullary astrocytoma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "intradural extramedullary astrocytic tumor of the Cauda equina" EXACT [DOID:4846, NCIT:C5408] +synonym: "intradural extramedullary astrocytic tumor of the Cauda equina" EXACT [DOID:4846] synonym: "intradural extramedullary astrocytic tumour of the Cauda equina" EXACT OMO:0003005 [] synonym: "intradural extramedullary astrocytoma of Cauda equina" EXACT [NCIT:C5408] synonym: "intradural extramedullary astrocytoma of the Cauda equina" EXACT [NCIT:C5408] @@ -57341,12 +57343,12 @@ name: cauda equina neoplasm def: "A neoplasm involving a cauda equina." [MONDO:patterns/neoplasm] synonym: "cauda equina neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Cauda equina neoplasms" EXACT [NCIT:C5479] -synonym: "cauda equina tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "cauda equina tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5479] synonym: "cauda equina tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of cauda equina" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of cauda equina" EXACT [MONDO:patterns/neoplasm, NCIT:C5479] synonym: "neoplasm of the Cauda equina" EXACT [NCIT:C5479] synonym: "tumor of Cauda equina" EXACT [NCIT:C5479] -synonym: "tumor of cauda equina" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of cauda equina" EXACT [MONDO:patterns/neoplasm, NCIT:C5479] synonym: "tumor of the Cauda equina" EXACT [DOID:4847, NCIT:C5479] synonym: "tumour of Cauda equina" EXACT OMO:0003005 [] synonym: "tumour of cauda equina" EXACT OMO:0003005 [] @@ -57372,7 +57374,7 @@ synonym: "astrocytoma (excluding glioblastoma) of cerebellum" EXACT [MONDO:desig synonym: "astrocytoma of cerebellum" EXACT [DOID:4848, NCIT:C9475] synonym: "astrocytoma of the cerebellum" EXACT [NCIT:C9475] synonym: "astrocytoma, cerebellar" EXACT [NCIT:C9475] -synonym: "cerebellar astrocytoma" EXACT [NCIT:C9475] +synonym: "cerebellar astrocytoma" EXACT [DOID:4848, NCIT:C9475] synonym: "cerebellum astrocytoma" EXACT [MONDO:patterns/location] synonym: "cerebellum astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] xref: DOID:4848 {source="MONDO:equivalentTo"} @@ -57407,7 +57409,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebellar pilocytic astrocytoma" EXACT [DOID:4853, NCIT:C6809] synonym: "cerebellum pilocytic astrocytoma" EXACT [MONDO:patterns/location] -synonym: "pilocytic astrocytoma of cerebellum" EXACT [NCIT:C6809] +synonym: "pilocytic astrocytoma of cerebellum" EXACT [DOID:4853, NCIT:C6809] synonym: "pilocytic astrocytoma of the cerebellum" EXACT [NCIT:C6809] xref: DOID:4853 {source="MONDO:equivalentTo"} xref: MEDGEN:91158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -57430,7 +57432,7 @@ subset: rare synonym: "astrocytoma (excluding glioblastoma) of diencephalon" EXACT [MONDO:design_pattern] synonym: "astrocytoma of diencephalon" EXACT [DOID:4855, NCIT:C5128] synonym: "astrocytoma of the diencephalon" EXACT [NCIT:C5128] -synonym: "diencephalic astrocytoma" EXACT [NCIT:C5128] +synonym: "diencephalic astrocytoma" EXACT [DOID:4855, NCIT:C5128] synonym: "diencephalon astrocytoma" EXACT [MONDO:patterns/location] synonym: "diencephalon astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] xref: DOID:4855 {source="MONDO:equivalentTo"} @@ -57450,7 +57452,7 @@ name: gliofibroma def: "An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma)." [NCIT:C5419] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "gliofibroma (morphologic abnormality)" EXACT [DOID:4856] +synonym: "gliofibroma (morphologic abnormality)" EXACT [] xref: DOID:4856 {source="MONDO:equivalentTo"} xref: ICDO:9442/1 {source="NCIT:C5419"} xref: MEDGEN:226850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -57469,7 +57471,7 @@ subset: rare synonym: "astrocytoma (excluding glioblastoma) of pineal body" EXACT [MONDO:design_pattern] synonym: "astrocytoma of pineal gland" EXACT [NCIT:C8274] synonym: "astrocytoma of the pineal gland" EXACT [NCIT:C8274] -synonym: "pineal astrocytic tumor" EXACT [DOID:4858, NCIT:C8274] +synonym: "pineal astrocytic tumor" EXACT [DOID:4858] synonym: "pineal astrocytic tumour" EXACT OMO:0003005 [] synonym: "pineal astrocytoma" EXACT [NCIT:C8274] synonym: "pineal body astrocytoma" EXACT [MONDO:patterns/location] @@ -57522,10 +57524,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "astrocytoma (excluding glioblastoma) of spinal cord" EXACT [MONDO:design_pattern] -synonym: "astrocytoma of spinal cord" EXACT [NCIT:C4641] +synonym: "astrocytoma of spinal cord" EXACT [DOID:4863, NCIT:C4641] synonym: "astrocytoma of the spinal cord" EXACT [NCIT:C4641] synonym: "spinal astrocytoma" EXACT [DOID:4863, NCIT:C4641] -synonym: "spinal cord astrocytoma" EXACT [MONDO:patterns/location, NCIT:C4641] +synonym: "spinal cord astrocytoma" EXACT [DOID:4863, MONDO:patterns/location, NCIT:C4641] synonym: "spinal cord astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] xref: DOID:4863 {source="MONDO:equivalentTo"} xref: EFO:1000544 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -57545,17 +57547,17 @@ def: "An adenoid cystic carcinoma arising from the salivary gland. It is charact subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenoid cystic cancer" BROAD [DOID:4866, NCIT:C2970] -synonym: "adenoid cystic carcinoma" BROAD EXCLUDE [DOID:4866] -synonym: "adenoid cystic carcinoma (morphologic abnormality)" BROAD [DOID:4866] +synonym: "adenoid cystic cancer" BROAD [] +synonym: "adenoid cystic carcinoma" BROAD EXCLUDE [] +synonym: "adenoid cystic carcinoma (morphologic abnormality)" BROAD [] synonym: "adenoid cystic carcinoma of salivary gland" EXACT [NCIT:C8026] synonym: "adenoid cystic carcinoma of the salivary gland" EXACT [NCIT:C8026] -synonym: "cylindroma" RELATED EXCLUDE [DOID:4866] -synonym: "cylindroma (morphologic abnormality)" EXACT [DOID:4866] -synonym: "cylindroma NOS" RELATED EXCLUDE [DOID:4866] +synonym: "cylindroma" RELATED EXCLUDE [] +synonym: "cylindroma (morphologic abnormality)" EXACT [] +synonym: "cylindroma NOS" RELATED EXCLUDE [] synonym: "saliva-secreting gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location] synonym: "salivary gland adenoid cystic cancer" EXACT [NCIT:C8026] -synonym: "salivary gland adenoid cystic carcinoma" EXACT [NCIT:C8026] +synonym: "salivary gland adenoid cystic carcinoma" EXACT [DOID:4866, NCIT:C8026] xref: DOID:4866 {source="MONDO:equivalentTo"} xref: MEDGEN:79034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D003528 {source="DOID:4866"} @@ -57582,9 +57584,9 @@ name: prostate adenoid cystic carcinoma def: "An adenoid cystic carcinoma that arises from the prostate gland." [NCIT:C5539] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adenoid cystic carcinoma of prostate" EXACT [DOID:4868, NCIT:C5539] +synonym: "adenoid cystic carcinoma of prostate" EXACT [NCIT:C5539] synonym: "adenoid cystic carcinoma of the prostate" EXACT [DOID:4868, NCIT:C5539] -synonym: "prostate adenoid cystic carcinoma" EXACT [NCIT:C5539] +synonym: "prostate adenoid cystic carcinoma" EXACT [DOID:4868, NCIT:C5539] synonym: "prostate gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4868 {source="MONDO:equivalentTo"} xref: MEDGEN:233352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -57618,7 +57620,7 @@ synonym: "adenoid cystic carcinoma of skin" EXACT [NCIT:C4471] synonym: "adenoid cystic carcinoma of the skin" EXACT [DOID:4871, NCIT:C4471] synonym: "adenoid cystic cutaneous carcinoma" EXACT [NCIT:C4471] synonym: "adenoid cystic eccrine carcinoma" EXACT [DOID:4871] -synonym: "adenoid cystic eccrine carcinoma (morphologic abnormality)" EXACT [DOID:4871] +synonym: "adenoid cystic eccrine carcinoma (morphologic abnormality)" EXACT [] synonym: "adenoid cystic eccrine carcinoma of skin" EXACT [DOID:4871] synonym: "adenoid cystic skin carcinoma" EXACT [NCIT:C4471] synonym: "primary cutaneous adenocystic carcinoma" EXACT [NCIT:C4471] @@ -57644,12 +57646,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenocystic carcinoma of lung" EXACT [NCIT:C5666] synonym: "adenocystic carcinoma of the lung" EXACT [NCIT:C5666] -synonym: "adenoid cystic carcinoma of lung" EXACT [DOID:4872, NCIT:C5666] +synonym: "adenoid cystic carcinoma of lung" EXACT [NCIT:C5666] synonym: "adenoid cystic carcinoma of the lung" EXACT [NCIT:C5666] synonym: "LUACC" RELATED ABBREVIATION [ONCOTREE:LUACC] synonym: "lung adenocystic carcinoma" EXACT [NCIT:C5666] synonym: "lung adenoid cystic cancer" EXACT [NCIT:C5666] -synonym: "lung adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C5666] +synonym: "lung adenoid cystic carcinoma" EXACT [DOID:4872, MONDO:patterns/location, NCIT:C5666] synonym: "pulmonary adenocystic carcinoma" EXACT [NCIT:C5666] synonym: "pulmonary adenoid cystic carcinoma" EXACT [DOID:4872, NCIT:C5666] xref: DOID:4872 {source="MONDO:equivalentTo"} @@ -57700,13 +57702,13 @@ name: trachea carcinoma def: "A carcinoma that arises from epithelial cells of the trachea." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} synonym: "cancer of the trachea" EXACT [NCIT:C9347] -synonym: "cancer of trachea" BROAD [NCIT:C9347] -synonym: "carcinoma of the trachea" EXACT [DOID:4876, NCIT:C9347] +synonym: "cancer of trachea" BROAD [] +synonym: "carcinoma of the trachea" EXACT [NCIT:C9347] synonym: "carcinoma of trachea" EXACT [MONDO:patterns/carcinoma, NCIT:C9347] -synonym: "Pancoast's tumor" RELATED EXCLUDE [DOID:4876] +synonym: "Pancoast's tumor" RELATED EXCLUDE [] synonym: "Pancoast's tumour" RELATED OMO:0003005 [] -synonym: "trachea cancer" BROAD [NCIT:C9347] -synonym: "trachea carcinoma" EXACT [MONDO:patterns/location, NCIT:C9347] +synonym: "trachea cancer" BROAD [] +synonym: "trachea carcinoma" EXACT [DOID:4876, MONDO:patterns/location, NCIT:C9347] synonym: "tracheal carcinoma" EXACT [NCIT:C9347] xref: DOID:4876 {source="MONDO:equivalentTo"} xref: EFO:1000599 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -57732,9 +57734,9 @@ synonym: "adenocystic carcinoma of breast" EXACT [NCIT:C5130] synonym: "adenocystic carcinoma of the breast" EXACT [NCIT:C5130] synonym: "adenoid cystic breast cancer" RELATED [ONCOTREE:ACBC] synonym: "adenoid cystic breast carcinoma" EXACT [MONDO:0006072, NCIT:C5130] -synonym: "adenoid cystic carcinoma of breast" EXACT [DOID:4877, NCIT:C5130] +synonym: "adenoid cystic carcinoma of breast" EXACT [NCIT:C5130] synonym: "adenoid cystic carcinoma of the breast" EXACT [NCIT:C5130] -synonym: "breast adenoid cystic carcinoma" EXACT [DOID:4877, MONDO:patterns/location] +synonym: "breast adenoid cystic carcinoma" EXACT [DOID:4877, MONDO:patterns/location, NCIT:C5130] synonym: "mammary adenocystic carcinoma" EXACT [DOID:4877, NCIT:C5130] synonym: "mammary adenoid cystic carcinoma" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4877 {source="MONDO:equivalentTo"} @@ -57765,7 +57767,7 @@ synonym: "adenoid cystic carcinoma, oesophagus" EXACT OMO:0003005 [] synonym: "adenoid cystic esophagus carcinoma" EXACT [NCIT:C5342] synonym: "adenoid cystic oesophagus carcinoma" EXACT OMO:0003005 [] synonym: "esophageal adenoid cystic cancer" EXACT [NCIT:C5342] -synonym: "esophageal adenoid cystic carcinoma" EXACT [NCIT:C5342] +synonym: "esophageal adenoid cystic carcinoma" EXACT [DOID:4878, NCIT:C5342] synonym: "esophagus adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C5342] synonym: "oesophagus adenoid cystic carcinoma" EXACT OMO:0003005 [] xref: DOID:4878 {source="MONDO:equivalentTo"} @@ -57784,7 +57786,7 @@ def: "A carcinoma that arises from the Bartholin gland and is characterized by t subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Bartholin gland adenoid cystic carcinoma" EXACT [DOID:4879, NCIT:C40295] -synonym: "Bartholin's gland adenoid cystic carcinoma" EXACT [NCIT:C40295] +synonym: "Bartholin's gland adenoid cystic carcinoma" EXACT [DOID:4879, NCIT:C40295] synonym: "major vestibular gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4879 {source="MONDO:equivalentTo"} xref: MEDGEN:307247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -57807,10 +57809,10 @@ name: middle ear adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the middle ear" [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of middle Ear" EXACT [NCIT:C6848] synonym: "adenocarcinoma of middle ear" RELATED [DOID:4892] -synonym: "adenocarcinoma of the middle Ear" EXACT [NCIT:C6848] +synonym: "adenocarcinoma of the middle Ear" EXACT [DOID:4892, NCIT:C6848] synonym: "adenocarcinoma of the middle ear" EXACT [DOID:4892, NCIT:C6848] -synonym: "middle Ear adenocarcinoma" EXACT [NCIT:C6848] -synonym: "middle ear adenocarcinoma" EXACT [MONDO:patterns/location] +synonym: "middle Ear adenocarcinoma" EXACT [DOID:4892, NCIT:C6848] +synonym: "middle ear adenocarcinoma" EXACT [DOID:4892, MONDO:patterns/location, NCIT:C6848] xref: DOID:4892 {source="MONDO:equivalentTo"} xref: MEDGEN:235326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6848 {source="DOID:4892", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -57826,11 +57828,11 @@ name: middle ear carcinoma def: "A carcinoma that arises from epithelial cells of the middle ear" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of middle Ear" EXACT [NCIT:C6089] -synonym: "carcinoma of middle ear" EXACT [DOID:4893, MONDO:patterns/carcinoma] -synonym: "carcinoma of the middle Ear" EXACT [NCIT:C6089] +synonym: "carcinoma of middle ear" EXACT [MONDO:patterns/carcinoma, NCIT:C6089] +synonym: "carcinoma of the middle Ear" EXACT [DOID:4893, NCIT:C6089] synonym: "carcinoma of the middle ear" EXACT [DOID:4893, NCIT:C6089] -synonym: "middle Ear carcinoma" EXACT [NCIT:C6089] -synonym: "middle ear carcinoma" EXACT [MONDO:patterns/location] +synonym: "middle Ear carcinoma" EXACT [DOID:4893, NCIT:C6089] +synonym: "middle ear carcinoma" EXACT [DOID:4893, MONDO:patterns/location, NCIT:C6089] xref: DOID:4893 {source="MONDO:equivalentTo"} xref: MEDGEN:233189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6089 {source="DOID:4893", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -57847,7 +57849,7 @@ name: rete ovarii adenocarcinoma def: "An exceptionally rare adenocarcinoma that arises from the rete ovarii." [NCIT:C40017] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "rete ovarii adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40017] +synonym: "rete ovarii adenocarcinoma" EXACT [DOID:4894, MONDO:patterns/location, NCIT:C40017] xref: DOID:4894 {source="MONDO:equivalentTo"} xref: MEDGEN:826068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40017 {source="DOID:4894", source="MONDO:equivalentTo"} @@ -57885,7 +57887,7 @@ def: "A carcinoma that arises from glandular epithelial cells of the bile duct" subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bile duct adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C27813] +synonym: "bile duct adenocarcinoma" EXACT [DOID:4896, MONDO:patterns/location, NCIT:C27813] xref: DOID:4896 {source="MONDO:equivalentTo"} xref: MEDGEN:234585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27813 {source="DOID:4896", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -57902,7 +57904,7 @@ name: hemangioma of lung def: "A hemangioma that involves the lung." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "lung hemangioma" EXACT [MONDO:patterns/location] -synonym: "pulmonary hemangioma" EXACT [DOID:490, NCIT:C7747] +synonym: "pulmonary hemangioma" EXACT [DOID:490] xref: DOID:490 {source="MONDO:equivalentTo"} xref: MEDGEN:1843480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C0241983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843480"} @@ -57917,7 +57919,7 @@ name: peritoneal serous adenocarcinoma def: "A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "peritoneum serous adenocarcinoma" EXACT [MONDO:patterns/location] -synonym: "primary peritoneal serous adenocarcinoma" NARROW [DOID:4901] +synonym: "primary peritoneal serous adenocarcinoma" NARROW [] xref: DOID:4901 {source="MONDO:equivalentTo"} xref: NCIT:C40023 {source="MONDO:relatedTo", source="DOID:4901"} is_a: MONDO:0002113 {source="DOID:4901", source="MONDO:Entailed", source="MONDO:Redundant"} ! peritoneal carcinoma @@ -57932,8 +57934,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "appendix cancer" BROAD [NCIT:C9330] -synonym: "appendix carcinoma" EXACT [NCIT:C9330] +synonym: "appendix cancer" BROAD [] +synonym: "appendix carcinoma" EXACT [DOID:4902, NCIT:C9330] synonym: "Ca appendix" EXACT [DOID:4902] synonym: "carcinoma of appendix" EXACT [DOID:4902, NCIT:C9330] synonym: "carcinoma of the appendix" EXACT [NCIT:C9330] @@ -57959,8 +57961,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "granular cell adenocarcinoma" EXACT [DOID:4903, NCIT:C3681] -synonym: "granular cell carcinoma" EXACT [NCIT:C3681] -synonym: "granular cell carcinoma (morphologic abnormality)" EXACT [DOID:4903] +synonym: "granular cell carcinoma" EXACT [DOID:4903, NCIT:C3681] +synonym: "granular cell carcinoma (morphologic abnormality)" EXACT [] xref: DOID:4903 {source="MONDO:equivalentTo"} xref: ICDO:8320/3 {source="NCIT:C3681"} xref: MEDGEN:104695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -57982,16 +57984,16 @@ subset: ordo_disorder {source="Orphanet:104075"} subset: orphanet_rare {source="Orphanet:104075"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenocarcinoma - small intest." EXACT [NCIT:C7888] -synonym: "adenocarcinoma of small bowel" EXACT [NCIT:C7888, Orphanet:104075] +synonym: "adenocarcinoma - small intest." EXACT [] +synonym: "adenocarcinoma of small bowel" EXACT [NCIT:C7888] synonym: "adenocarcinoma of small instestine" EXACT [MONDO:0015189] -synonym: "adenocarcinoma of small intestine" EXACT [DOID:4906, NCIT:C7888] -synonym: "adenocarcinoma of the small bowel" EXACT [NCIT:C7888] -synonym: "adenocarcinoma of the small instestine" RELATED [Orphanet:104075] -synonym: "adenocarcinoma of the small intestine" EXACT [NCIT:C7888] +synonym: "adenocarcinoma of small intestine" EXACT [NCIT:C7888] +synonym: "adenocarcinoma of the small bowel" EXACT [NCIT:C7888, Orphanet:104075] +synonym: "adenocarcinoma of the small instestine" RELATED [] +synonym: "adenocarcinoma of the small intestine" EXACT [NCIT:C7888, Orphanet:104075] synonym: "small bowel adenocarcinoma" EXACT [NCIT:C7888] synonym: "small intestinal adenocarcinoma" EXACT [DOID:4906, MONDO:0006415, NCIT:C7888] -synonym: "small intestine adenocarcinoma" EXACT [MONDO:patterns/location] +synonym: "small intestine adenocarcinoma" EXACT [DOID:4906, MONDO:patterns/location] xref: DOID:4906 {source="MONDO:equivalentTo"} xref: EFO:1000532 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19851 {source="MONDO:GARD"} @@ -58012,13 +58014,13 @@ id: MONDO:0003199 name: anal carcinoma def: "A carcinoma that arises from epithelial cells of the anus" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "anal cancer" BROAD [NCIT:C9291] -synonym: "anal cancer, NOS" BROAD EXCLUDE [NCIT:C9291] -synonym: "anal carcinoma" EXACT [NCIT:C9291] +synonym: "anal cancer" BROAD [] +synonym: "anal cancer, NOS" BROAD EXCLUDE [] +synonym: "anal carcinoma" EXACT [DOID:4908, NCIT:C9291] synonym: "anus carcinoma" EXACT [MONDO:patterns/location] -synonym: "Ca anus" BROAD [DOID:4908] -synonym: "cancer of anus" BROAD [NCIT:C9291] -synonym: "cancer of the anus" BROAD [NCIT:C9291] +synonym: "Ca anus" BROAD [] +synonym: "cancer of anus" BROAD [] +synonym: "cancer of the anus" BROAD [] synonym: "carcinoma of anus" EXACT [DOID:4908, MONDO:patterns/carcinoma, NCIT:C9291] synonym: "carcinoma of the anus" EXACT [NCIT:C9291] xref: DOID:4908 {source="MONDO:equivalentTo"} @@ -58044,7 +58046,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "adenocarcinoma of the urethra" EXACT [DOID:4910, NCIT:C6167] synonym: "adenocarcinoma of urethra" EXACT [NCIT:C6167] synonym: "UAD" RELATED ABBREVIATION [ONCOTREE:UAD] -synonym: "urethra adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6167] +synonym: "urethra adenocarcinoma" EXACT [DOID:4910, MONDO:patterns/location, NCIT:C6167] synonym: "urethral adenocarcinoma" EXACT [NCIT:C6167] xref: DOID:4910 {source="MONDO:equivalentTo"} xref: MEDGEN:234461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -58069,9 +58071,9 @@ name: pituitary gland basophilic carcinoma subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "basophil adenocarcinoma" EXACT [DOID:4915, NCIT:C27392] -synonym: "basophil carcinoma" EXACT [NCIT:C27392] -synonym: "basophil carcinoma (morphologic abnormality)" EXACT [DOID:4915] -synonym: "basophilic carcinoma" RELATED [DOID:4915] +synonym: "basophil carcinoma" EXACT [DOID:4915, NCIT:C27392] +synonym: "basophil carcinoma (morphologic abnormality)" EXACT [] +synonym: "basophilic carcinoma" RELATED [] synonym: "pituitary gland basophil carcinoma" EXACT [NCIT:C27392] xref: DOID:4915 {source="MONDO:equivalentTo"} xref: MEDGEN:352901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -58093,8 +58095,8 @@ id: MONDO:0003204 name: villous adenocarcinoma def: "An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma." [NCIT:C4142] subset: otar {source="MONDO:OTAR"} -synonym: "villous adenocarcinoma" EXACT [NCIT:C4142] -synonym: "villous adenocarcinoma (morphologic abnormality)" EXACT [DOID:4917] +synonym: "villous adenocarcinoma" EXACT [DOID:4917, NCIT:C4142] +synonym: "villous adenocarcinoma (morphologic abnormality)" EXACT [] xref: DOID:4917 {source="MONDO:equivalentTo"} xref: ICDO:8262/3 {source="NCIT:C4142"} xref: MEDGEN:137741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -58111,12 +58113,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "adenocarcinoma of kidney pelvis" EXACT [NCIT:C6143] -synonym: "adenocarcinoma of renal pelvis" EXACT [DOID:4918, NCIT:C6143] +synonym: "adenocarcinoma of renal pelvis" EXACT [NCIT:C6143] synonym: "adenocarcinoma of the kidney pelvis" EXACT [DOID:4918, NCIT:C6143] synonym: "adenocarcinoma of the renal pelvis" EXACT [NCIT:C6143] synonym: "kidney pelvis adenocarcinoma" EXACT [NCIT:C6143] -synonym: "kidney renal pelvis adenocarcinoma" EXACT [NCIT:C6143] -synonym: "renal pelvis adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6143] +synonym: "kidney renal pelvis adenocarcinoma" EXACT [] +synonym: "renal pelvis adenocarcinoma" EXACT [DOID:4918, MONDO:patterns/location, NCIT:C6143] xref: DOID:4918 {source="MONDO:equivalentTo"} xref: MEDGEN:277590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6143 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:4918"} @@ -58131,7 +58133,7 @@ intersection_of: disease_has_location UBERON:0001224 ! renal pelvis id: MONDO:0003206 name: acquired hemangioma def: "A hemangioma that is not present at birth but develops later in life." [NCIT:C27018] -synonym: "acquired hemangioma" EXACT [MONDO:patterns/acquired, NCIT:C27018] +synonym: "acquired hemangioma" EXACT [DOID:492, MONDO:patterns/acquired, NCIT:C27018] xref: DOID:492 {source="MONDO:equivalentTo"} xref: MEDGEN:208988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27018 {source="MONDO:equivalentTo", source="DOID:492", source="MONDO:exact-label-match"} @@ -58160,7 +58162,7 @@ synonym: "juvenile breast carcinoma" EXACT [DOID:4922, NCIT:C4189] synonym: "juvenile carcinoma (formerly)" RELATED DEPRECATED [GARD:0009408] synonym: "juvenile carcinoma of breast" EXACT [NCIT:C4189] synonym: "juvenile carcinoma of the breast" EXACT [DOID:4922, NCIT:C4189] -synonym: "juvenile carcinoma of the breast (morphologic abnormality)" EXACT [DOID:4922] +synonym: "juvenile carcinoma of the breast (morphologic abnormality)" EXACT [] synonym: "juvenile secretory breast carcinoma" EXACT [NCIT:C4189] synonym: "juvenile secretory carcinoma of breast" EXACT [DOID:4922, NCIT:C4189] synonym: "juvenile secretory carcinoma of the breast" EXACT [NCIT:C4189] @@ -58192,8 +58194,8 @@ subset: rare synonym: "adenocarcinoma of the Thymus" EXACT [DOID:4923, NCIT:C6459] synonym: "adenocarcinoma of Thymus" EXACT [NCIT:C6459] synonym: "thymic adenocarcinoma" EXACT [NCIT:C6459] -synonym: "Thymus adenocarcinoma" EXACT [NCIT:C6459] -synonym: "thymus adenocarcinoma" EXACT [MONDO:patterns/location] +synonym: "Thymus adenocarcinoma" EXACT [DOID:4923, NCIT:C6459] +synonym: "thymus adenocarcinoma" EXACT [DOID:4923, MONDO:patterns/location, NCIT:C6459] xref: DOID:4923 {source="MONDO:equivalentTo"} xref: MEDGEN:234426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6459 {source="MONDO:equivalentTo", source="DOID:4923"} @@ -58215,13 +58217,13 @@ synonym: "cholangiocarcinoma, intrahepatic, malignant" EXACT [NCIT:C35417] synonym: "ICC" EXACT ABBREVIATION [NCIT:C35417] synonym: "IHCH" RELATED ABBREVIATION [ONCOTREE:IHCH] synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" EXACT [NCIT:C35417] -synonym: "intrahepatic bile duct carcinoma" EXACT [NCIT:C35417] +synonym: "intrahepatic bile duct carcinoma" EXACT [DOID:4928, NCIT:C35417] synonym: "intrahepatic carcinoma of bile duct" EXACT [NCIT:C35417] synonym: "intrahepatic carcinoma of the bile duct" EXACT [NCIT:C35417] -synonym: "intrahepatic cholangiocarcinoma" EXACT [NCIT:C35417] -synonym: "intrahepatic cholangiocarcinoma (bile duct cancer)" EXACT [NCIT:C35417] +synonym: "intrahepatic cholangiocarcinoma" EXACT [DOID:4928, icd11.foundation:1253728223, NCIT:C35417] +synonym: "intrahepatic cholangiocarcinoma (bile duct cancer)" EXACT [] synonym: "intrahepatic Cholangiocellular carcinoma" EXACT [NCIT:C35417] -synonym: "peripheral cholangiocarcinoma" EXACT [DOID:4928, NCIT:C35417] +synonym: "peripheral cholangiocarcinoma" EXACT [DOID:4928] xref: DOID:4928 {source="MONDO:equivalentTo"} xref: EFO:1001961 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6042 {source="MONDO:GARD"} @@ -58243,9 +58245,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6042/intrahe id: MONDO:0003211 name: nasal cavity adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the nasal cavity" [https://orcid.org/0000-0002-6601-2165] -synonym: "adenocarcinoma of nasal cavity" EXACT [DOID:4930, NCIT:C6015] +synonym: "adenocarcinoma of nasal cavity" EXACT [NCIT:C6015] synonym: "adenocarcinoma of the nasal cavity" EXACT [DOID:4930, NCIT:C6015] -synonym: "nasal cavity adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6015] +synonym: "nasal cavity adenocarcinoma" EXACT [DOID:4930, MONDO:patterns/location, NCIT:C6015] xref: DOID:4930 {source="MONDO:equivalentTo"} xref: MEDGEN:233746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6015 {source="DOID:4930", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -58260,12 +58262,12 @@ id: MONDO:0003212 name: nasal cavity carcinoma def: "A carcinoma that arises from epithelial cells of the nasal cavity" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of nasal cavity" BROAD [DOID:4931, NCIT:C9336] -synonym: "cancer of the nasal cavity" BROAD [NCIT:C9336] -synonym: "carcinoma of nasal cavity" EXACT [DOID:4931, MONDO:patterns/carcinoma, NCIT:C9336] +synonym: "cancer of nasal cavity" BROAD [] +synonym: "cancer of the nasal cavity" BROAD [] +synonym: "carcinoma of nasal cavity" EXACT [MONDO:patterns/carcinoma, NCIT:C9336] synonym: "carcinoma of the nasal cavity" EXACT [NCIT:C9336] -synonym: "nasal cavity cancer" BROAD [NCIT:C9336] -synonym: "nasal cavity carcinoma" EXACT [MONDO:patterns/location, NCIT:C9336] +synonym: "nasal cavity cancer" BROAD [] +synonym: "nasal cavity carcinoma" EXACT [DOID:4931, MONDO:patterns/location, NCIT:C9336] xref: DOID:4931 {source="MONDO:equivalentTo"} xref: MEDGEN:235119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9336 {source="MONDO:equivalentTo", source="DOID:4931"} @@ -58288,12 +58290,12 @@ id: MONDO:0003214 name: apocrine adenocarcinoma def: "A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "apocrine adenocarcinoma (morphologic abnormality)" EXACT [DOID:4933] +synonym: "apocrine adenocarcinoma (morphologic abnormality)" EXACT [] synonym: "apocrine carcinoma" EXACT [DOID:4933, NCIT:C4169] synonym: "apocrine gland adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "apocrine gland carcinoma" EXACT [DOID:4933, NCIT:C4169] synonym: "carcinoma of apocrine gland" EXACT [NCIT:C4169] -synonym: "carcinoma of the apocrine gland" EXACT [DOID:4933, NCIT:C5575] +synonym: "carcinoma of the apocrine gland" EXACT [DOID:4933] xref: DOID:4933 {source="MONDO:equivalentTo"} xref: ICDO:8401/3 {source="NCIT:C4169"} xref: MEDGEN:569650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -58310,7 +58312,7 @@ id: MONDO:0003215 name: apocrine sweat gland cancer def: "A malignant neoplasm involving the apocrine sweat gland." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "apocrine sweat gland cancer" EXACT [MONDO:patterns/location] +synonym: "apocrine sweat gland cancer" EXACT [DOID:4934, MONDO:patterns/location] synonym: "cancer of apocrine sweat gland" EXACT [MONDO:patterns/cancer] synonym: "malignant apocrine neoplasm" EXACT [NCIT:C6800] synonym: "malignant apocrine neoplasm of skin" EXACT [NCIT:C6800] @@ -58340,8 +58342,8 @@ id: MONDO:0003216 name: ureter adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the ureter" [https://orcid.org/0000-0002-6601-2165] synonym: "adenocarcinoma of the ureter" EXACT [NCIT:C6155] -synonym: "adenocarcinoma of ureter" EXACT [DOID:4938, NCIT:C6155] -synonym: "ureter adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6155] +synonym: "adenocarcinoma of ureter" EXACT [NCIT:C6155] +synonym: "ureter adenocarcinoma" EXACT [DOID:4938, MONDO:patterns/location, NCIT:C6155] synonym: "ureteral adenocarcinoma" EXACT [DOID:4938, NCIT:C6155] xref: DOID:4938 {source="MONDO:equivalentTo"} xref: MEDGEN:234456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -58363,7 +58365,7 @@ id: MONDO:0003218 name: adenocarcinoma in situ def: "A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics." [NCIT:C4123] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma in situ" EXACT [NCIT:C4123] +synonym: "adenocarcinoma in situ" EXACT [DOID:4943, NCIT:C4123] synonym: "AIS" RELATED ABBREVIATION [ONCOTREE:AIS] xref: DOID:4943 {source="MONDO:equivalentTo"} xref: ICDO:8140/2 {source="NCIT:C4123"} @@ -58383,9 +58385,9 @@ id: MONDO:0003219 name: gastroesophageal junction adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the esophagogastric junction." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma - GEJ" EXACT [NCIT:C9296] +synonym: "adenocarcinoma - GEJ" EXACT [] synonym: "adenocarcinoma of cardioesophageal junction" EXACT [DOID:4944, NCIT:C9296] -synonym: "adenocarcinoma of gastroesophageal junction" EXACT [DOID:4944, NCIT:C9296] +synonym: "adenocarcinoma of gastroesophageal junction" EXACT [NCIT:C9296] synonym: "adenocarcinoma of the cardioesophageal junction" EXACT [NCIT:C9296] synonym: "adenocarcinoma of the EG junction" EXACT [NCIT:C9296] synonym: "adenocarcinoma of the esophagogastric junction" EXACT [NCIT:C9296] @@ -58393,7 +58395,7 @@ synonym: "adenocarcinoma of the gastroesophageal junction" EXACT [NCIT:C9296] synonym: "adenocarcinoma of the GE junction" EXACT [NCIT:C9296] synonym: "esophagogastric adenocarcinoma" RELATED [ONCOTREE:EGC] synonym: "esophagogastric junction adenocarcinoma" EXACT [MONDO:patterns/location] -synonym: "gastroesophageal junction adenocarcinoma" EXACT [NCIT:C9296] +synonym: "gastroesophageal junction adenocarcinoma" EXACT [DOID:4944, NCIT:C9296] xref: DOID:4944 {source="MONDO:equivalentTo"} xref: MEDGEN:231030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9296 {source="MONDO:equivalentTo", source="DOID:4944", source="MONDO:exact-label-match"} @@ -58416,13 +58418,13 @@ synonym: "cancer of gallbladder" EXACT [NCIT:C3844] synonym: "cancer of the gallbladder" EXACT [DOID:4948, NCIT:C3844] synonym: "carcinoma gallbladder" EXACT [DOID:4948] synonym: "carcinoma of gall bladder" EXACT [MONDO:patterns/carcinoma] -synonym: "carcinoma of gallbladder" EXACT [NCIT:C3844] +synonym: "carcinoma of gallbladder" EXACT [DOID:4948, NCIT:C3844] synonym: "carcinoma of the gallbladder" EXACT [NCIT:C3844] synonym: "gall bladder carcinoma" EXACT [MONDO:patterns/location] -synonym: "Gall bladder carcinoma (adeno)" EXACT [NCIT:C3844] -synonym: "Gall bladder carcinoma (adenocarcinoma)" EXACT [NCIT:C3844] -synonym: "gallbladder cancer" BROAD [NCIT:C3844] -synonym: "gallbladder carcinoma" EXACT [NCIT:C3844] +synonym: "Gall bladder carcinoma (adeno)" EXACT [] +synonym: "Gall bladder carcinoma (adenocarcinoma)" EXACT [] +synonym: "gallbladder cancer" BROAD [] +synonym: "gallbladder carcinoma" EXACT [DOID:4948, NCIT:C3844] xref: DOID:4948 {source="MONDO:equivalentTo"} xref: EFO:1001956 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:116001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -58448,28 +58450,28 @@ id: MONDO:0003222 name: central nervous system melanocytic neoplasm def: "A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion." [NCIT:C5504] subset: otar {source="MONDO:OTAR"} -synonym: "central nervous system melanocytic neoplasm" EXACT [MONDO:patterns/location, NCIT:C5504] -synonym: "central nervous system melanocytic neoplasms" EXACT [NCIT:C5504] -synonym: "central nervous system melanocytic tumor" EXACT [NCIT:C5504] +synonym: "central nervous system melanocytic neoplasm" EXACT [DOID:4955, MONDO:patterns/location] +synonym: "central nervous system melanocytic neoplasms" EXACT [] +synonym: "central nervous system melanocytic tumor" EXACT [] synonym: "central nervous system melanocytic tumour" EXACT OMO:0003005 [] synonym: "central nervous system primary melanocytic lesion" RELATED [DOID:4955] -synonym: "CNS melanocytic neoplasm" EXACT [NCIT:C5504] -synonym: "CNS melanocytic tumor" EXACT [NCIT:C5504] +synonym: "CNS melanocytic neoplasm" EXACT [] +synonym: "CNS melanocytic tumor" EXACT [] synonym: "CNS melanocytic tumour" EXACT OMO:0003005 [] -synonym: "melanocytic neoplasm of central nervous system" EXACT [NCIT:C5504] -synonym: "melanocytic neoplasm of CNS" EXACT [NCIT:C5504] -synonym: "melanocytic neoplasm of the central nervous system" EXACT [NCIT:C5504] -synonym: "melanocytic neoplasm of the CNS" EXACT [NCIT:C5504] -synonym: "melanocytic tumor of central nervous system" EXACT [NCIT:C5504] -synonym: "melanocytic tumor of CNS" EXACT [NCIT:C5504] -synonym: "melanocytic tumor of the central nervous system" EXACT [NCIT:C5504] -synonym: "melanocytic tumor of the CNS" EXACT [DOID:4955, NCIT:C5504] +synonym: "melanocytic neoplasm of central nervous system" EXACT [] +synonym: "melanocytic neoplasm of CNS" EXACT [] +synonym: "melanocytic neoplasm of the central nervous system" EXACT [] +synonym: "melanocytic neoplasm of the CNS" EXACT [] +synonym: "melanocytic tumor of central nervous system" EXACT [] +synonym: "melanocytic tumor of CNS" EXACT [] +synonym: "melanocytic tumor of the central nervous system" EXACT [] +synonym: "melanocytic tumor of the CNS" EXACT [DOID:4955] synonym: "melanocytic tumour of central nervous system" EXACT OMO:0003005 [] synonym: "melanocytic tumour of CNS" EXACT OMO:0003005 [] synonym: "melanocytic tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "melanocytic tumour of the CNS" EXACT OMO:0003005 [] synonym: "primary melanocytic lesion of meninges" RELATED [DOID:4955] -synonym: "primary melanocytic lesions of the CNS" RELATED [DOID:4955, NCIT:C4661] +synonym: "primary melanocytic lesions of the CNS" RELATED [DOID:4955] xref: DOID:4955 {source="MONDO:equivalentTo"} xref: MEDGEN:232333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4661 {source="DOID:4955"} @@ -58488,7 +58490,7 @@ def: "A solitary fibrous tumor/hemangiopericytoma that arises from the meninges. subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hemangiopericytoma of meninges" EXACT [NCIT:C4660] +synonym: "hemangiopericytoma of meninges" EXACT [DOID:4957, NCIT:C4660] synonym: "hemangiopericytoma of the central nervous system" RELATED [ONCOTREE:HPCCNS] synonym: "hemangiopericytoma of the meninges" EXACT [NCIT:C4660] synonym: "meningeal cluster hemangiopericytoma" EXACT [MONDO:patterns/location] @@ -58496,7 +58498,7 @@ synonym: "meningeal cluster spindle cell tumor" EXACT [MONDO:patterns/location] synonym: "meningeal cluster spindle cell tumour" EXACT OMO:0003005 [] synonym: "meningeal hemangiopericytoma" EXACT [DOID:4957, NCIT:C4660] synonym: "meningeal solitary fibrous tumor/hemangiopericytoma" EXACT [NCIT:C4660] -synonym: "meninges hemangiopericytoma" EXACT [NCIT:C4660] +synonym: "meninges hemangiopericytoma" EXACT [DOID:4957, NCIT:C4660] xref: DOID:4957 {source="MONDO:equivalentTo"} xref: MEDGEN:83894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4660 {source="MONDO:equivalentTo", source="DOID:4957"} @@ -58522,7 +58524,7 @@ def: "Any disease of the bone marrow." [NCIT:C34433] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone marrow disease" EXACT [MONDO:patterns/location, NCIT:C34433] +synonym: "bone marrow disease" EXACT [DOID:4961, MONDO:patterns/location, NCIT:C34433] synonym: "bone marrow disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "bone marrow disorder" EXACT [DOID:4961, NCIT:C34433] synonym: "disease of bone marrow" EXACT [MONDO:patterns/location_top] @@ -58551,7 +58553,7 @@ id: MONDO:0003227 name: prosopagnosia def: "Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury." [NCIT:C85031] synonym: "face blindness" EXACT [NCIT:C85031] -synonym: "prosopagnosia" EXACT [MONDO:ambiguous, NCIT:C85031] +synonym: "prosopagnosia" EXACT [DOID:4970, icd11.foundation:858616900, MONDO:ambiguous, NCIT:C85031] synonym: "prosopagnosia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4970 {source="MONDO:equivalentTo"} xref: HP:0010528 {source="MONDO:otherHierarchy"} @@ -58591,8 +58593,8 @@ name: acute nonparalytic poliomyelitis def: "A poliomyelitis that does not exhibit paralysis." [http://en.wikipedia.org/wiki/Poliomyelitis] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "acute nonparalytic poliomyelitis" EXACT [DOID:4986] -synonym: "non-paralytic aseptic meningitis" NARROW [DOID:4986] +synonym: "acute nonparalytic poliomyelitis" EXACT [DOID:4986, ICD10CM:A80.4, icd11.foundation:1066160874] +synonym: "non-paralytic aseptic meningitis" NARROW [] synonym: "nonparalytic poliomyelitis" EXACT [DOID:4986] xref: DOID:4986 {source="MONDO:equivalentTo"} xref: ICD10CM:A80.4 {source="MONDO:equivalentTo", source="DOID:4986"} @@ -58612,7 +58614,7 @@ id: MONDO:0003232 name: alcoholic pancreatitis def: "Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." [MESH:D019512] subset: otar {source="MONDO:OTAR"} -synonym: "alcoholic pancreatitis" EXACT [MESH:D019512] +synonym: "alcoholic pancreatitis" EXACT [DOID:4988, MESH:D019512] xref: DOID:4988 {source="MONDO:equivalentTo"} xref: EFO:1002013 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:84027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -58630,9 +58632,9 @@ name: essential tremor def: "A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)" [MESH:D020329] subset: otar {source="MONDO:OTAR"} synonym: "benign essential tremor" EXACT [DOID:4990] -synonym: "essential hereditary tremor" NARROW [DOID:4990] +synonym: "essential hereditary tremor" NARROW [] synonym: "shaky hand syndrome" EXACT [DOID:4990] -synonym: "tremor, hereditary essential" NARROW [OMIMPS:190300] +synonym: "tremor, hereditary essential" NARROW [] xref: DOID:4990 {source="MONDO:equivalentTo"} xref: EFO:0003108 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G25.0 {source="MONDO:equivalentTo", source="DOID:4990"} @@ -58655,14 +58657,14 @@ name: optic nerve astrocytoma def: "A astrocytoma (excluding glioblastoma) that involves the cranial nerve II." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "astrocytic tumor of optic nerve" EXACT [DOID:4991, NCIT:C6769] +synonym: "astrocytic tumor of optic nerve" EXACT [DOID:4991] synonym: "astrocytic tumour of optic nerve" EXACT OMO:0003005 [] synonym: "astrocytoma (excluding glioblastoma) of cranial nerve II" EXACT [MONDO:design_pattern] synonym: "astrocytoma of optic nerve" EXACT [NCIT:C6769] synonym: "astrocytoma of the optic nerve" EXACT [NCIT:C6769] synonym: "cranial nerve II astrocytoma (excluding glioblastoma)" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "optic nerve astrocytoma" EXACT [NCIT:C6769] -synonym: "optic tract astrocytoma" RELATED [DOID:4991, MONDO:patterns/location] +synonym: "optic nerve astrocytoma" EXACT [DOID:4991, NCIT:C6769] +synonym: "optic tract astrocytoma" RELATED [MONDO:patterns/location] synonym: "optic tract astrocytoma (excluding glioblastoma)" RELATED [MONDO:patterns/location] xref: DOID:4991 {source="MONDO:equivalentTo"} xref: MEDGEN:235405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -58686,7 +58688,7 @@ synonym: "cranial nerve II glioma" EXACT [MONDO:design_pattern, MONDO:patterns/l synonym: "glioma of cranial nerve II" EXACT [MONDO:design_pattern] synonym: "glioma of optic nerve" EXACT [NCIT:C4537] synonym: "glioma of the optic nerve" EXACT [DOID:4992, NCIT:C4537] -synonym: "optic nerve glioma" EXACT [NCIT:C4537] +synonym: "optic nerve glioma" EXACT [DOID:4992, NCIT:C4537] xref: DOID:4992 {source="MONDO:equivalentTo"} xref: EFO:0009254 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:237.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -58707,7 +58709,7 @@ name: atypical polypoid adenomyoma def: "An adenomyoma characterized by the presence of marked glandular architectural complexity." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "atypical polypoid adenomyoma" EXACT [DOID:4993, NCIT:C6895] -synonym: "atypical polypoid adenomyoma (morphologic abnormality)" EXACT [DOID:4993] +synonym: "atypical polypoid adenomyoma (morphologic abnormality)" EXACT [] xref: DOID:4993 {source="MONDO:equivalentTo"} xref: MEDGEN:266248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6895 {source="DOID:4993", source="MONDO:equivalentTo"} @@ -58728,11 +58730,11 @@ synonym: "adenomyoma of the corpus uteri" EXACT [NCIT:C6338] synonym: "adenomyoma of the uterine body" EXACT [NCIT:C6338] synonym: "adenomyoma of the uterine corpus" EXACT [NCIT:C6338] synonym: "adenomyoma of uterine body" EXACT [NCIT:C6338] -synonym: "adenomyoma of uterine corpus" EXACT [NCIT:C6338] +synonym: "adenomyoma of uterine corpus" EXACT [DOID:4994, NCIT:C6338] synonym: "body of uterus adenomyoma" EXACT [MONDO:patterns/location] synonym: "corpus uteri adenomyoma" EXACT [NCIT:C6338] synonym: "uterine body adenomyoma" EXACT [NCIT:C6338] -synonym: "uterine corpus adenomyoma" EXACT [NCIT:C6338] +synonym: "uterine corpus adenomyoma" EXACT [DOID:4994, NCIT:C6338] xref: DOID:4994 {source="MONDO:equivalentTo"} xref: MEDGEN:234465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6338 {source="DOID:4994", source="MONDO:equivalentTo"} @@ -58746,7 +58748,7 @@ relationship: excluded_subClassOf MONDO:0006003 {source="DOID:4994", source="htt id: MONDO:0003238 name: cervical adenomyoma def: "A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma." [NCIT:C40231] -synonym: "cervical adenomyoma" EXACT [NCIT:C40231] +synonym: "cervical adenomyoma" EXACT [DOID:4995, NCIT:C40231] xref: DOID:4995 {source="MONDO:equivalentTo"} xref: MEDGEN:275705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40231 {source="DOID:4995", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -58768,7 +58770,7 @@ synonym: "disease of thyroid gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of thyroid gland" EXACT [] synonym: "disorder of thyroid gland" EXACT [MONDO:patterns/location_top] synonym: "thyroid disease" EXACT [MONDO:0006494] -synonym: "thyroid gland disease" EXACT [MONDO:patterns/location, NCIT:C26893] +synonym: "thyroid gland disease" EXACT [DOID:50, MONDO:patterns/location, NCIT:C26893] synonym: "thyroid gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "thyroid gland diseases" EXACT [NCIT:C26893] synonym: "thyroid gland disorder" EXACT [NCIT:C26893] @@ -58799,7 +58801,7 @@ id: MONDO:0003241 name: central nervous system hemangioma def: "A hemangioma arising from the brain and spinal cord." [NCIT:C7004] subset: otar {source="MONDO:OTAR"} -synonym: "central nervous system hemangioma" EXACT [MONDO:patterns/location, NCIT:C7004] +synonym: "central nervous system hemangioma" EXACT [DOID:501, MONDO:patterns/location, NCIT:C7004] synonym: "hemangioma of central nervous system" EXACT [NCIT:C7004] synonym: "hemangioma of CNS" EXACT [DOID:501, NCIT:C7004] synonym: "hemangioma of the central nervous system" EXACT [NCIT:C7004] @@ -58830,7 +58832,7 @@ synonym: "clear cell carcinoma of liver cells" EXACT [NCIT:C5754] synonym: "clear cell carcinoma of the liver cells" EXACT [DOID:5016, NCIT:C5754] synonym: "clear cell hepatocellular cancer" EXACT [NCIT:C5754] synonym: "clear cell hepatocellular carcinoma" EXACT [NCIT:C5754] -synonym: "hepatocellular clear cell carcinoma" EXACT [NCIT:C5754] +synonym: "hepatocellular clear cell carcinoma" EXACT [DOID:5016, NCIT:C5754] synonym: "liver cell clear cell carcinoma" EXACT [NCIT:C5754] xref: DOID:5016 {source="MONDO:equivalentTo"} xref: ICDO:8174/3 {source="NCIT:C5754"} @@ -58863,8 +58865,8 @@ synonym: "mesenchymal, non-meningothelial tumor of the CNS" EXACT [NCIT:C5449] synonym: "mesenchymal, non-meningothelial tumour of central nervous system" EXACT OMO:0003005 [] synonym: "mesenchymal, non-meningothelial tumour of CNS" EXACT OMO:0003005 [] synonym: "mesenchymal, non-meningothelial tumour of the CNS" EXACT OMO:0003005 [] -synonym: "non-meningothelial mesenchymal tumor" EXACT [DOID:502, NCIT:C6972] -synonym: "non-meningothelial mesenchymal tumour" EXACT OMO:0003005 [] +synonym: "non-meningothelial mesenchymal tumor" EXACT [DOID:502] +synonym: "non-meningothelial mesenchymal tumour" EXACT OMO:0003005 [DOID:502] synonym: "soft tissue neoplasm of central nervous system" EXACT [NCIT:C5449] synonym: "soft tissue neoplasm of CNS" EXACT [NCIT:C5449] synonym: "soft tissue neoplasm of the central nervous system" EXACT [NCIT:C5449] @@ -58891,7 +58893,7 @@ def: "A hepatocellular carcinoma that develops following exposure to aflatoxin." subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "aflatoxins-related hepatocellular cancer" EXACT [NCIT:C27922] -synonym: "aflatoxins-related hepatocellular carcinoma" EXACT [NCIT:C27922] +synonym: "aflatoxins-related hepatocellular carcinoma" EXACT [DOID:5022, NCIT:C27922] xref: DOID:5022 {source="MONDO:equivalentTo"} xref: MEDGEN:231047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27922 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5022"} @@ -58935,7 +58937,7 @@ synonym: "adult pineal parenchymal cell neoplasm" EXACT [NCIT:C8273] synonym: "adult pineal parenchymal cell tumor" EXACT [NCIT:C8273] synonym: "adult pineal parenchymal cell tumour" EXACT OMO:0003005 [] synonym: "adult pineal parenchymal neoplasm" EXACT [DOID:5031, NCIT:C8273] -synonym: "adult pineal parenchymal tumor" EXACT [NCIT:C8273] +synonym: "adult pineal parenchymal tumor" EXACT [DOID:5031, NCIT:C8273] synonym: "parenchymal neoplasm of adult pineal gland" EXACT [NCIT:C8273] synonym: "parenchymal neoplasm of the adult pineal gland" EXACT [NCIT:C8273] synonym: "parenchymal tumor of adult pineal gland" EXACT [NCIT:C8273] @@ -58943,7 +58945,7 @@ synonym: "parenchymal tumor of the adult pineal gland" EXACT [NCIT:C8273] synonym: "parenchymal tumour of adult pineal gland" EXACT OMO:0003005 [] synonym: "parenchymal tumour of the adult pineal gland" EXACT OMO:0003005 [] synonym: "pineal parenchymal cell neoplasm of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] -synonym: "pineal parenchymal cell tumor" BROAD [NCIT:C8273] +synonym: "pineal parenchymal cell tumor" BROAD [] synonym: "pineal parenchymal cell tumour" BROAD OMO:0003005 [] xref: DOID:5031 {source="MONDO:equivalentTo"} xref: MEDGEN:83710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -58976,14 +58978,14 @@ synonym: "malignant tumor of pineal gland" EXACT [DOID:5032, NCIT:C3573] synonym: "malignant tumor of the pineal gland" EXACT [NCIT:C3573] synonym: "malignant tumour of pineal gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the pineal gland" EXACT OMO:0003005 [] -synonym: "neoplasm of pineal gland" BROAD EXCLUDE [DOID:5032] -synonym: "neoplasm of the pineal region" BROAD [DOID:5032] +synonym: "neoplasm of pineal gland" BROAD EXCLUDE [] +synonym: "neoplasm of the pineal region" BROAD [] synonym: "pineal body cancer" EXACT [MONDO:patterns/location] -synonym: "pineal body neoplasm" BROAD EXCLUDE [DOID:5032] -synonym: "pinealoma" RELATED [DOID:5032] -synonym: "pineocytic tumor" BROAD [DOID:5032] +synonym: "pineal body neoplasm" BROAD EXCLUDE [] +synonym: "pinealoma" RELATED [] +synonym: "pineocytic tumor" BROAD [] synonym: "pineocytic tumour" BROAD OMO:0003005 [] -synonym: "tumor of the pineal region" BROAD [DOID:5032] +synonym: "tumor of the pineal region" BROAD [] synonym: "tumour of the pineal region" BROAD OMO:0003005 [] xref: DOID:5032 {source="MONDO:equivalentTo"} xref: ICD10CM:C75.3 {source="DOID:5032"} @@ -59015,7 +59017,7 @@ synonym: "benign granular cell myoblastoma" EXACT [NCIT:C3252] synonym: "benign granular cell neoplasm" EXACT [NCIT:C3252] synonym: "benign granular cell tumor" EXACT [DOID:5039, NCIT:C3252] synonym: "granular cell tumor, benign" EXACT [MONDO:patterns/benign, NCIT:C3252] -synonym: "myoblastoma" EXACT [NCIT:C3252] +synonym: "myoblastoma" EXACT [DOID:5039, NCIT:C3252] xref: DOID:5039 {source="MONDO:equivalentTo"} xref: MEDGEN:44550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D009379 {source="MONDO:relatedTo", source="DOID:5039"} @@ -59053,9 +59055,9 @@ synonym: "granular cell oesophagus neoplasm" EXACT OMO:0003005 [] synonym: "granular cell oesophagus tumour" EXACT OMO:0003005 [] synonym: "granular cell tumor of esophagus" EXACT [DOID:5040, NCIT:C5700] synonym: "granular cell tumor of the esophagus" EXACT [NCIT:C5700] -synonym: "granular cell tumour of oesophagus" EXACT OMO:0003005 [] +synonym: "granular cell tumour of oesophagus" EXACT OMO:0003005 [DOID:5040] synonym: "granular cell tumour of the oesophagus" EXACT OMO:0003005 [] -synonym: "malignant granular cell esophageal tumor" RELATED [DOID:5040] +synonym: "malignant granular cell esophageal tumor" RELATED [] synonym: "malignant granular cell esophageal tumour" RELATED OMO:0003005 [] synonym: "oesophagus granular cell tumour" EXACT OMO:0003005 [] xref: DOID:5040 {source="MONDO:equivalentTo"} @@ -59074,11 +59076,11 @@ def: "An uncommon granular cell tumor which may metastasize to other anatomic si subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "granular cell tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4336] -synonym: "granular cell tumor, malignant (morphologic abnormality)" EXACT [DOID:5042] -synonym: "malignant granular cell myoblastoma" EXACT [MONDO:0021087, NCIT:C4336] +synonym: "granular cell tumor, malignant" EXACT [DOID:5042, MONDO:patterns/malignant, NCIT:C4336] +synonym: "granular cell tumor, malignant (morphologic abnormality)" EXACT [] +synonym: "malignant granular cell myoblastoma" EXACT [DOID:5042, MONDO:0021087, NCIT:C4336] synonym: "malignant granular cell neoplasm" EXACT [DOID:5042, NCIT:C4336] -synonym: "malignant granular cell tumor" EXACT [NCIT:C4336] +synonym: "malignant granular cell tumor" EXACT [DOID:5042, NCIT:C4336] synonym: "malignant granular cell tumour" EXACT OMO:0003005 [] synonym: "myoblastoma, malignant" EXACT [NCIT:C4336] xref: DOID:5042 {source="MONDO:equivalentTo"} @@ -59104,7 +59106,7 @@ synonym: "granular cell tumor of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "granular cell tumour of mammalian vulva" EXACT OMO:0003005 [] synonym: "mammalian vulva granular cell tumor" EXACT [MONDO:patterns/location] synonym: "mammalian vulva granular cell tumour" EXACT OMO:0003005 [] -synonym: "vulvar granular cell tumor" EXACT [NCIT:C40328] +synonym: "vulvar granular cell tumor" EXACT [DOID:5043, NCIT:C40328] xref: DOID:5043 {source="MONDO:equivalentTo"} xref: MEDGEN:276992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40328 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5043"} @@ -59120,7 +59122,7 @@ name: cardiac granular cell neoplasm def: "A very rare granular cell tumor that arises from the heart." [NCIT:C5360] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Cardiac granular cell neoplasm" EXACT [NCIT:C5360] +synonym: "Cardiac granular cell neoplasm" EXACT [DOID:5044, NCIT:C5360] synonym: "Cardiac granular cell tumor" EXACT [NCIT:C5360] synonym: "Cardiac granular cell tumour" EXACT OMO:0003005 [] synonym: "granular cell neoplasm of heart" EXACT [NCIT:C5360] @@ -59129,7 +59131,7 @@ synonym: "granular cell tumor of heart" EXACT [DOID:5044, NCIT:C5360] synonym: "granular cell tumor of the heart" EXACT [NCIT:C5360] synonym: "granular cell tumour of heart" EXACT OMO:0003005 [] synonym: "granular cell tumour of the heart" EXACT OMO:0003005 [] -synonym: "heart granular cell tumor" EXACT [MONDO:patterns/location] +synonym: "heart granular cell tumor" EXACT [MONDO:patterns/location, NCIT:C5360] synonym: "heart granular cell tumour" EXACT OMO:0003005 [] xref: DOID:5044 {source="MONDO:equivalentTo"} xref: MEDGEN:232023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -59157,7 +59159,7 @@ synonym: "granular cell tumor of mediastinum" EXACT [DOID:5046, NCIT:C6601] synonym: "granular cell tumor of the mediastinum" EXACT [NCIT:C6601] synonym: "granular cell tumour of mediastinum" EXACT OMO:0003005 [] synonym: "granular cell tumour of the mediastinum" EXACT OMO:0003005 [] -synonym: "mediastinal granular cell myoblastoma" EXACT [NCIT:C6601] +synonym: "mediastinal granular cell myoblastoma" EXACT [DOID:5046, NCIT:C6601] synonym: "mediastinal granular cell neoplasm" EXACT [NCIT:C6601] synonym: "mediastinal granular cell tumor" EXACT [NCIT:C6601] synonym: "mediastinal granular cell tumour" EXACT OMO:0003005 [] @@ -59181,7 +59183,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "granular cell tumor of Neurohypophysis" EXACT [NCIT:C7017] -synonym: "granular cell tumor of neurohypophysis" EXACT [] +synonym: "granular cell tumor of neurohypophysis" EXACT [NCIT:C7017] synonym: "granular cell tumor of the neurohypophysis" EXACT [MONDO:0006236, NCIT:C7017] synonym: "granular cell tumor of the Neurohypophysis (WHO grade I)" EXACT [NCIT:C7017] synonym: "granular cell tumor of the posterior pituitary gland" EXACT [NCIT:C7017] @@ -59190,7 +59192,7 @@ synonym: "granular cell tumour of neurohypophysis" EXACT OMO:0003005 [] synonym: "granular cell tumour of the neurohypophysis" EXACT OMO:0003005 [] synonym: "granular cell tumour of the Neurohypophysis (WHO grade I)" EXACT OMO:0003005 [] synonym: "granular cell tumour of the posterior pituitary gland" EXACT OMO:0003005 [] -synonym: "neurohypophysis granular cell tumor" EXACT [MONDO:patterns/location] +synonym: "neurohypophysis granular cell tumor" EXACT [DOID:5047, MONDO:patterns/location] xref: DOID:5047 {source="MONDO:equivalentTo"} xref: EFO:1000285 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:9582/0 {source="NCIT:C7017"} @@ -59212,14 +59214,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "neoplasm of neurohypophysis" EXACT [MONDO:patterns/neoplasm] synonym: "Neurohypophysis neoplasm" EXACT [NCIT:C7157] -synonym: "neurohypophysis neoplasm" EXACT [] +synonym: "neurohypophysis neoplasm" EXACT [NCIT:C7157] synonym: "neurohypophysis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Neurohypophysis tumor" EXACT [NCIT:C7157] -synonym: "neurohypophysis tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "neurohypophysis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7157] synonym: "Neurohypophysis tumour" EXACT OMO:0003005 [] synonym: "neurohypophysis tumour" EXACT OMO:0003005 [] -synonym: "PITUICYTOMA, benign" EXACT [NCIT:C7157] -synonym: "posterior pituitary gland neoplasm" EXACT [NCIT:C7157] +synonym: "PITUICYTOMA, benign" EXACT [] +synonym: "posterior pituitary gland neoplasm" EXACT [DOID:5048, NCIT:C7157] synonym: "posterior pituitary gland tumor" EXACT [NCIT:C7157] synonym: "posterior pituitary gland tumour" EXACT OMO:0003005 [] synonym: "posterior pituitary neoplasm" EXACT [NCIT:C7157] @@ -59243,8 +59245,8 @@ def: "A hemangioma characterized by the presence of hobnail endothelial cells." subset: ordo_disorder {source="Orphanet:675362"} subset: orphanet_rare {source="Orphanet:675362"} subset: rare -synonym: "hobnail hemangioma" EXACT [NCIT:C27506] -synonym: "Targetoid Hemosiderotic hemangioma" EXACT [NCIT:C27506] +synonym: "hobnail hemangioma" EXACT [DOID:505, NCIT:C27506, Orphanet:675362] +synonym: "Targetoid Hemosiderotic hemangioma" EXACT [NCIT:C27506, Orphanet:675362] xref: DOID:505 {source="MONDO:equivalentTo"} xref: MEDGEN:91080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27506 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -59263,7 +59265,7 @@ replaced_by: MONDO:0017775 id: MONDO:0003260 name: adult cerebellar neoplasm def: "A cerebellar neoplasm that occurs in an adult." [MONDO:design_pattern] -synonym: "adult cerebellar neoplasm" EXACT [NCIT:C5968] +synonym: "adult cerebellar neoplasm" EXACT [DOID:5056, NCIT:C5968] synonym: "adult cerebellar neoplasms" EXACT [NCIT:C5968] synonym: "adult cerebellar tumor" EXACT [NCIT:C5968] synonym: "adult cerebellar tumors" EXACT [NCIT:C5968] @@ -59290,10 +59292,10 @@ name: papillary meningioma of the cerebellum def: "A papillary meningioma that affects the cerebellum." [NCIT:C5270] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cerebellar papillary meningioma" RELATED [NCIT:C5270] +synonym: "cerebellar papillary meningioma" RELATED [] synonym: "cerebellum papillary meningioma" EXACT [MONDO:patterns/location] synonym: "papillary meningioma of cerebellum" EXACT [DOID:5057, NCIT:C5270] -synonym: "papillary meningioma of the cerebellum" EXACT [NCIT:C5270] +synonym: "papillary meningioma of the cerebellum" EXACT [DOID:5057, NCIT:C5270] xref: DOID:5057 {source="MONDO:equivalentTo"} xref: MEDGEN:234109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5270 {source="DOID:5057", source="MONDO:equivalentTo", source="NCIT:C5270"} @@ -59310,9 +59312,9 @@ def: "A WHO grade III meningioma characterized by the predominant presence of rh subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "meningioma, rhabdoid" EXACT [DOID:5058] -synonym: "meningioma, rhabdoid (morphologic abnormality)" EXACT [DOID:5058] -synonym: "papillary meningioma" RELATED [DOID:5058, NCIT:C3904] -synonym: "papillary meningioma (morphologic abnormality)" EXACT [DOID:5058] +synonym: "meningioma, rhabdoid (morphologic abnormality)" EXACT [] +synonym: "papillary meningioma" RELATED [] +synonym: "papillary meningioma (morphologic abnormality)" EXACT [] synonym: "rhabdoid meningioma" EXACT [DOID:5058, NCIT:C6909] xref: DOID:5058 {source="MONDO:equivalentTo"} xref: MEDGEN:120445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -59326,7 +59328,7 @@ is_a: MONDO:0016642 {source="DOID:5058", source="NCIT:C6909/inferred"} ! meningi id: MONDO:0003263 name: childhood cerebellar neoplasm def: "A neoplasm that affects the cerebellum and occurs during childhood." [NCIT:C5970] -synonym: "childhood cerebellar neoplasm" EXACT [NCIT:C5970] +synonym: "childhood cerebellar neoplasm" EXACT [DOID:5059, NCIT:C5970] synonym: "childhood cerebellar neoplasms" EXACT [NCIT:C5970] synonym: "childhood cerebellar tumor" EXACT [NCIT:C5970] synonym: "childhood cerebellar tumors" EXACT [NCIT:C5970] @@ -59366,11 +59368,11 @@ alt_id: MONDO:0006413 def: "A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases." [NCIT:C2922] subset: otar {source="MONDO:OTAR"} synonym: "Basisquamous cell carcinoma" EXACT [DOID:5063] -synonym: "basosquamous carcinoma" EXACT [NCIT:C2922] +synonym: "basosquamous carcinoma" EXACT [DOID:5063, NCIT:C2922] synonym: "basosquamous cell carcinoma" EXACT [DOID:5063, NCIT:C2922] synonym: "basosquamous tumor, malignant" EXACT [NCIT:C2922] synonym: "metatypical carcinoma" EXACT [DOID:5063] -synonym: "metatypical carcinoma (morphologic abnormality)" EXACT [DOID:5063] +synonym: "metatypical carcinoma (morphologic abnormality)" EXACT [] synonym: "skin basosquamous cell carcinoma" EXACT [NCIT:C2922] synonym: "skin mixed basal and squamous cell carcinoma" EXACT [NCIT:C2922] xref: DOID:5063 {source="MONDO:equivalentTo"} @@ -59394,8 +59396,8 @@ def: "A category of psychiatric disorders which are characterized by emotional o subset: otar {source="MONDO:OTAR"} synonym: "adaptation reaction" RELATED [] synonym: "adjustment disease" EXACT [DOID:507] -synonym: "adjustment disorder" EXACT [MESH:D000275, NCIT:C92191] -synonym: "adjustment reaction" EXACT [DOID:507] +synonym: "adjustment disorder" EXACT [DOID:507, icd11.foundation:264310751, MESH:D000275, NCIT:C92191] +synonym: "adjustment reaction" EXACT [DOID:507, icd11.foundation:264310751] synonym: "disorder, adjustment" RELATED [MESH:D000275] synonym: "disorder, reactive" RELATED [MESH:D000275] synonym: "disorders, adjustment" RELATED [MESH:D000275] @@ -59427,9 +59429,9 @@ subset: gard_rare {source="GARD:16527", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:301"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ependymal neoplasm" EXACT [DOID:5074, NCIT:C6770] -synonym: "ependymal tumor" EXACT [MONDO:0017605, NCIT:C6770] -synonym: "ependymal tumors" EXACT [DOID:5074] +synonym: "ependymal neoplasm" EXACT [NCIT:C6770] +synonym: "ependymal tumor" EXACT [MONDO:0017605, NCIT:C6770, Orphanet:301] +synonym: "ependymal tumors" EXACT [] synonym: "ependymal tumours" EXACT OMO:0003005 [] synonym: "ependymomal tumor" RELATED [ONCOTREE:EPMT] synonym: "ependymomal tumour" RELATED OMO:0003005 [] @@ -59463,8 +59465,8 @@ synonym: "glioma, mixed, malignant" EXACT [NCIT:C3903] synonym: "mixed glial neoplasm" EXACT [NCIT:C3903] synonym: "mixed glial tumor" EXACT [NCIT:C3903] synonym: "mixed glial tumour" EXACT OMO:0003005 [] -synonym: "mixed glioma" EXACT [NCIT:C3903] -synonym: "mixed glioma (morphologic abnormality)" EXACT [DOID:5076] +synonym: "mixed glioma" EXACT [DOID:5076, NCIT:C3903] +synonym: "mixed glioma (morphologic abnormality)" EXACT [] synonym: "mixed gliomas" EXACT [DOID:5076, MTH:NOCODE] synonym: "mixed neuroglial neoplasm" EXACT [NCIT:C3903] synonym: "mixed neuroglial tumor" EXACT [DOID:5076, NCIT:C3903] @@ -59505,7 +59507,7 @@ is_a: MONDO:0005420 {source="DOID:5083"} ! hypothyroidism [Term] id: MONDO:0003272 name: mixed epithelial stromal tumor -synonym: "mixed epithelial stromal tumor" EXACT [DOID:5088] +synonym: "mixed epithelial stromal tumor" EXACT [] xref: DOID:5088 {source="MONDO:equivalentTo"} xref: NCIT:C37265 {source="MONDO:relatedTo", source="DOID:5088"} is_a: MONDO:0021043 {source="https://orcid.org/0000-0001-5208-3432"} ! mixed neoplasm @@ -59520,18 +59522,18 @@ subset: rare synonym: "cancer of sternum" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of sternum" EXACT [MONDO:patterns/cancer, NCIT:C8408] synonym: "malignant neoplasm of the sternum" EXACT [NCIT:C8408] -synonym: "malignant sternal neoplasm" EXACT [DOID:5090] -synonym: "malignant sternal tumor" EXACT [DOID:5090, NCIT:C8408] +synonym: "malignant sternal neoplasm" EXACT [NCIT:C8408] +synonym: "malignant sternal tumor" EXACT [NCIT:C8408] synonym: "malignant sternal tumour" EXACT OMO:0003005 [] synonym: "malignant sternum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of sternum" EXACT [NCIT:C8408] synonym: "malignant tumor of the sternum" EXACT [NCIT:C8408] synonym: "malignant tumour of sternum" EXACT OMO:0003005 [] synonym: "malignant tumour of the sternum" EXACT OMO:0003005 [] -synonym: "neoplasm of sternum" BROAD [DOID:5090] -synonym: "sternal tumor" BROAD EXCLUDE [DOID:5090] +synonym: "neoplasm of sternum" BROAD [] +synonym: "sternal tumor" BROAD EXCLUDE [] synonym: "sternal tumour" BROAD OMO:0003005 [] -synonym: "sternum cancer" EXACT [MONDO:patterns/location] +synonym: "sternum cancer" EXACT [DOID:5090, MONDO:patterns/location] xref: DOID:5090 {source="MONDO:equivalentTo"} xref: MEDGEN:277996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6730 {source="DOID:5090"} @@ -59561,11 +59563,11 @@ synonym: "malignant tumor of thorax" EXACT [NCIT:C3576] synonym: "malignant tumour of the thorax" EXACT OMO:0003005 [] synonym: "malignant tumour of thorax" EXACT OMO:0003005 [] synonym: "thoracic segment of trunk cancer" EXACT [MONDO:patterns/location] -synonym: "thoracic tumor" BROAD [DOID:5093, NCIT:C3406] +synonym: "thoracic tumor" BROAD [] synonym: "thoracic tumour" BROAD OMO:0003005 [] synonym: "thorax cancer" EXACT [DOID:5093] -synonym: "thorax neoplasm" BROAD [DOID:5093] -synonym: "tumor of thorax" BROAD [DOID:5093] +synonym: "thorax neoplasm" BROAD [] +synonym: "tumor of thorax" BROAD [] synonym: "tumour of thorax" BROAD OMO:0003005 [] xref: DOID:5093 {source="MONDO:equivalentTo"} xref: ICD10CM:C76.1 {source="DOID:5093"} @@ -59589,18 +59591,18 @@ name: middle ear cancer def: "A malignant neoplasm involving the middle ear" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} synonym: "cancer of middle ear" EXACT [MONDO:patterns/cancer] -synonym: "malignant middle ear neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant middle ear neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4765] synonym: "malignant middle Ear tumor" EXACT [NCIT:C4765] synonym: "malignant middle Ear tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of middle ear" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of middle ear" EXACT [MONDO:patterns/cancer, NCIT:C4765] synonym: "malignant neoplasm of the middle Ear" EXACT [NCIT:C4765] synonym: "malignant tumor of middle Ear" EXACT [NCIT:C4765] synonym: "malignant tumor of the middle Ear" EXACT [NCIT:C4765] synonym: "malignant tumour of middle Ear" EXACT OMO:0003005 [] synonym: "malignant tumour of the middle Ear" EXACT OMO:0003005 [] -synonym: "middle ear cancer" EXACT [MONDO:patterns/location] -synonym: "neoplasm of middle ear" RELATED EXCLUDE [DOID:5099] -synonym: "tumor of the middle ear" BROAD [DOID:5099, NCIT:C4412] +synonym: "middle ear cancer" EXACT [DOID:5099, MONDO:patterns/location] +synonym: "neoplasm of middle ear" RELATED EXCLUDE [] +synonym: "tumor of the middle ear" BROAD [] synonym: "tumour of the middle ear" BROAD OMO:0003005 [] xref: DOID:5099 {source="MONDO:equivalentTo"} xref: MEDGEN:99218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -59623,7 +59625,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of middle ear" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of middle ear" EXACT [] synonym: "disorder of middle ear" EXACT [MONDO:patterns/location_top] -synonym: "middle ear disease" EXACT [MONDO:patterns/location] +synonym: "middle ear disease" EXACT [DOID:5100, MONDO:patterns/location] synonym: "middle ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "middle Ear disorder" EXACT [NCIT:C27065] xref: DOID:5100 {source="MONDO:equivalentTo"} @@ -59647,17 +59649,17 @@ id: MONDO:0003277 name: malignant ear neoplasm def: "A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "auricular cancer" RELATED [DOID:5101] +synonym: "auricular cancer" RELATED [] synonym: "cancer of ear" EXACT [MONDO:patterns/cancer] -synonym: "ear cancer" EXACT [MONDO:patterns/location] -synonym: "malignant Ear neoplasm" EXACT [NCIT:C9337] -synonym: "malignant ear neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "ear cancer" EXACT [DOID:5101, MONDO:patterns/location] +synonym: "malignant Ear neoplasm" EXACT [DOID:5101, NCIT:C9337] +synonym: "malignant ear neoplasm" EXACT [DOID:5101, MONDO:patterns/cancer, NCIT:C9337] synonym: "malignant Ear tumor" EXACT [NCIT:C9337] synonym: "malignant Ear tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of Ear" EXACT [NCIT:C9337] -synonym: "malignant neoplasm of ear" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of ear" EXACT [MONDO:patterns/cancer, NCIT:C9337] synonym: "malignant neoplasm of the Ear" EXACT [NCIT:C9337] -synonym: "malignant tumor of Ear" EXACT [NCIT:C9337] +synonym: "malignant tumor of Ear" EXACT [DOID:5101, NCIT:C9337] synonym: "malignant tumor of ear" EXACT [DOID:5101, NCIT:C9337] synonym: "malignant tumor of the Ear" EXACT [NCIT:C9337] synonym: "malignant tumour of Ear" EXACT OMO:0003005 [] @@ -59707,7 +59709,7 @@ is_a: MONDO:0002329 {source="DOID:5104", source="NCIT:C27617/inferred"} ! testic id: MONDO:0003280 name: swayback def: "Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)" [MESH:D013540] -synonym: "swayback of sheep" EXACT [DOID:5112] +synonym: "swayback of sheep" EXACT [] xref: DOID:5112 {source="MONDO:equivalentTo"} xref: MESH:D013540 {source="DOID:5112", source="MONDO:equivalentTo"} xref: SCTID:61960001 {source="MONDO:equivalentTo"} @@ -59742,7 +59744,7 @@ synonym: "cyst, corpus luteum" RELATED [MESH:D010048] synonym: "cyst, ovarian" RELATED [MESH:D010048] synonym: "cysts, corpus luteum" RELATED [MESH:D010048] synonym: "cysts, ovarian" RELATED [MESH:D010048] -synonym: "ovarian cyst" EXACT [MESH:D010048, MONDO:ambiguous] +synonym: "ovarian cyst" EXACT [DOID:5119, MESH:D010048, MONDO:ambiguous] synonym: "ovarian cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:5119 {source="MONDO:equivalentTo"} xref: HP:0000138 {source="MONDO:otherHierarchy"} @@ -59760,12 +59762,12 @@ property_value: IAO:0000589 "ovarian cyst (disease)" xsd:string id: MONDO:0003283 name: epididymal neoplasm def: "A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma." [NCIT:C39958] -synonym: "epididymal neoplasm" EXACT [NCIT:C39958] +synonym: "epididymal neoplasm" EXACT [DOID:512, NCIT:C39958] synonym: "epididymis neoplasm" EXACT [] synonym: "epididymis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "epididymis tumor" EXACT [MONDO:patterns/neoplasm] synonym: "epididymis tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of epididymis" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of epididymis" EXACT [DOID:512, MONDO:patterns/neoplasm] synonym: "neoplasm of epididymus" EXACT [] synonym: "tumor of epididymis" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of epididymis" EXACT OMO:0003005 [] @@ -59789,7 +59791,7 @@ def: "A benign smooth muscle neoplasm arising from the mediastium. It is charact synonym: "leiomyoma of mediastinum" EXACT [DOID:5123, NCIT:C6598] synonym: "leiomyoma of the mediastinum" EXACT [NCIT:C6598] synonym: "mediastinal leiomyoma" EXACT [NCIT:C6598] -synonym: "mediastinum leiomyoma" EXACT [MONDO:patterns/location] +synonym: "mediastinum leiomyoma" EXACT [DOID:5123, MONDO:patterns/location] xref: DOID:5123 {source="MONDO:equivalentTo"} xref: MEDGEN:277350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6598 {source="DOID:5123", source="MONDO:equivalentTo"} @@ -59805,7 +59807,7 @@ name: fallopian tube leiomyoma def: "A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C40127] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "fallopian tube leiomyoma" EXACT [MONDO:patterns/location, NCIT:C40127] +synonym: "fallopian tube leiomyoma" EXACT [DOID:5124, MONDO:patterns/location, NCIT:C40127] synonym: "leiomyoma of fallopian tube" EXACT [MONDO:design_pattern] xref: DOID:5124 {source="MONDO:equivalentTo"} xref: MEDGEN:309126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -59820,7 +59822,7 @@ intersection_of: disease_has_location UBERON:0003889 ! fallopian tube id: MONDO:0003286 name: extrahepatic bile duct leiomyoma def: "A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5855] -synonym: "extrahepatic bile duct leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5855] +synonym: "extrahepatic bile duct leiomyoma" EXACT [DOID:5125, MONDO:patterns/location, NCIT:C5855] synonym: "leiomyoma of extrahepatic bile duct" EXACT [NCIT:C5855] synonym: "leiomyoma of the extrahepatic bile duct" EXACT [DOID:5125, NCIT:C5855] xref: DOID:5125 {source="MONDO:equivalentTo"} @@ -59839,7 +59841,7 @@ intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct id: MONDO:0003287 name: central nervous system leiomyoma def: "A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity." [NCIT:C6998] -synonym: "central nervous system leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6998] +synonym: "central nervous system leiomyoma" EXACT [DOID:5126, MONDO:patterns/location, NCIT:C6998] synonym: "leiomyoma of central nervous system" EXACT [NCIT:C6998] synonym: "leiomyoma of CNS" EXACT [DOID:5126, NCIT:C6998] synonym: "leiomyoma of the central nervous system" EXACT [NCIT:C6998] @@ -59858,8 +59860,8 @@ id: MONDO:0003288 name: bizarre leiomyoma def: "A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm." [NCIT:C4257] synonym: "atypical leiomyoma" EXACT [DOID:5127, NCIT:C4257] -synonym: "bizarre leiomyoma" EXACT [NCIT:C4257] -synonym: "pleomorphic leiomyoma" EXACT [DOID:5127, NCIT:C4257, NCIT:C6513] +synonym: "bizarre leiomyoma" EXACT [DOID:5127, NCIT:C4257] +synonym: "pleomorphic leiomyoma" EXACT [DOID:5127, NCIT:C4257] synonym: "Symplastic leiomyoma" EXACT [DOID:5127] xref: DOID:5127 {source="MONDO:equivalentTo"} xref: ICDO:8893/0 {source="NCIT:C4257"} @@ -59873,7 +59875,7 @@ is_a: MONDO:0001572 {source="DOID:5127", source="NCIT:C4257"} ! leiomyoma id: MONDO:0003289 name: deep leiomyoma def: "A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C6512] -synonym: "deep leiomyoma" EXACT [NCIT:C6512] +synonym: "deep leiomyoma" EXACT [DOID:5128, NCIT:C6512] xref: DOID:5128 {source="MONDO:equivalentTo"} xref: MEDGEN:234195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6512 {source="DOID:5128", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -59895,8 +59897,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cutaneous (skin) leiomyoma" EXACT [NCIT:C4482] -synonym: "cutaneous leiomyoma" EXACT [NCIT:C4482] -synonym: "leiomyoma cutis" EXACT [NCIT:C4482] +synonym: "cutaneous leiomyoma" EXACT [DOID:5132, NCIT:C4482] +synonym: "leiomyoma cutis" EXACT [DOID:5132, NCIT:C4482] synonym: "leiomyoma of skin" EXACT [NCIT:C4482] synonym: "leiomyoma of the skin" EXACT [DOID:5132, NCIT:C4482] synonym: "leiomyoma of zone of skin" EXACT [MONDO:design_pattern] @@ -59918,7 +59920,7 @@ id: MONDO:0003292 name: anus leiomyoma def: "A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378] synonym: "anal leiomyoma" EXACT [NCIT:C5608] -synonym: "anus leiomyoma" EXACT [MONDO:patterns/location] +synonym: "anus leiomyoma" EXACT [DOID:5134, MONDO:patterns/location] synonym: "leiomyoma of anus" EXACT [DOID:5134, NCIT:C5608] synonym: "leiomyoma of the anus" EXACT [NCIT:C5608] xref: DOID:5134 {source="MONDO:equivalentTo"} @@ -59938,7 +59940,7 @@ name: lung leiomyoma def: "A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5660] synonym: "leiomyoma of lung" EXACT [NCIT:C5660] synonym: "leiomyoma of the lung" EXACT [NCIT:C5660] -synonym: "lung leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5660] +synonym: "lung leiomyoma" EXACT [DOID:5136, MONDO:patterns/location, NCIT:C5660] synonym: "pulmonary leiomyoma" EXACT [DOID:5136, NCIT:C5660] xref: DOID:5136 {source="MONDO:equivalentTo"} xref: MEDGEN:232710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -59957,7 +59959,7 @@ def: "A benign smooth muscle neoplasm arising from the pericardium. It is charac synonym: "leiomyoma of pericardium" EXACT [DOID:5137, NCIT:C6743] synonym: "leiomyoma of the pericardium" EXACT [NCIT:C6743] synonym: "pericardial leiomyoma" EXACT [NCIT:C6743] -synonym: "pericardium leiomyoma" EXACT [MONDO:patterns/location] +synonym: "pericardium leiomyoma" EXACT [DOID:5137, MONDO:patterns/location] xref: DOID:5137 {source="MONDO:equivalentTo"} xref: MEDGEN:233321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6743 {source="DOID:5137", source="MONDO:equivalentTo"} @@ -59973,9 +59975,9 @@ id: MONDO:0003295 name: leiomyomatosis def: "A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body." [NCIT:C3748] subset: otar {source="MONDO:OTAR"} -synonym: "leiomyomatosis" EXACT [NCIT:C3748] -synonym: "leiomyomatosis, no ICD-O subtype" EXACT [DOID:5138] -synonym: "leiomyomatosis, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:5138] +synonym: "leiomyomatosis" EXACT [DOID:5138, NCIT:C3748] +synonym: "leiomyomatosis, no ICD-O subtype" EXACT [] +synonym: "leiomyomatosis, no ICD-O subtype (morphologic abnormality)" EXACT [] xref: DOID:5138 {source="MONDO:equivalentTo"} xref: ICDO:8890/1 {source="NCIT:C3748"} xref: MEDGEN:60203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -59990,8 +59992,8 @@ is_a: MONDO:0001572 {source="DOID:5138", source="MESH:D018231", source="NCIT:C37 id: MONDO:0003296 name: cellular leiomyoma def: "A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern." [NCIT:C4256] -synonym: "cellular leiomyoma" EXACT [NCIT:C4256] -synonym: "cellular leiomyoma (morphologic abnormality)" EXACT [DOID:5139] +synonym: "cellular leiomyoma" EXACT [DOID:5139, NCIT:C4256] +synonym: "cellular leiomyoma (morphologic abnormality)" EXACT [] xref: DOID:5139 {source="MONDO:equivalentTo"} xref: ICDO:8892/0 {source="NCIT:C4256"} xref: MEDGEN:83155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -60005,7 +60007,7 @@ id: MONDO:0003297 name: gallbladder leiomyoma def: "A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5747] synonym: "gall bladder leiomyoma" EXACT [MONDO:patterns/location] -synonym: "gallbladder leiomyoma" EXACT [NCIT:C5747] +synonym: "gallbladder leiomyoma" EXACT [DOID:5140, NCIT:C5747] synonym: "leiomyoma of gall bladder" EXACT [MONDO:design_pattern] synonym: "leiomyoma of gallbladder" EXACT [NCIT:C5747] synonym: "leiomyoma of the gallbladder" EXACT [DOID:5140, NCIT:C5747] @@ -60027,7 +60029,7 @@ name: vulvar leiomyoma def: "A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C40326] synonym: "leiomyoma of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "mammalian vulva leiomyoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "vulvar leiomyoma" EXACT [NCIT:C40326] +synonym: "vulvar leiomyoma" EXACT [DOID:5142, NCIT:C40326] xref: DOID:5142 {source="MONDO:equivalentTo"} xref: MEDGEN:274417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40326 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5142"} @@ -60043,7 +60045,7 @@ name: colorectal leiomyoma def: "A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5677] synonym: "colorectal leiomyoma" EXACT [NCIT:C5677] synonym: "colorectum leiomyoma" EXACT [MONDO:patterns/location] -synonym: "large bowel leiomyoma" EXACT [NCIT:C5677] +synonym: "large bowel leiomyoma" EXACT [DOID:5143, NCIT:C5677] synonym: "large intestine leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5677] synonym: "leiomyoma of large bowel" EXACT [NCIT:C5677] synonym: "leiomyoma of large intestine" EXACT [DOID:5143, NCIT:C5677] @@ -60065,7 +60067,7 @@ id: MONDO:0003300 name: appendix leiomyoma def: "A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5514] synonym: "appendiceal leiomyoma" EXACT [DOID:5146, NCIT:C5514] -synonym: "appendix leiomyoma" EXACT [NCIT:C5514] +synonym: "appendix leiomyoma" EXACT [DOID:5146, NCIT:C5514] synonym: "leiomyoma of appendix" EXACT [NCIT:C5514] synonym: "leiomyoma of the appendix" EXACT [NCIT:C5514] synonym: "leiomyoma of vermiform appendix" EXACT [MONDO:design_pattern] @@ -60087,7 +60089,7 @@ def: "A cutaneous leiomyoma arising from the dartos muscle of the scrotum or lab subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "dartoic leiomyoma" EXACT [DOID:5147, NCIT:C4483] -synonym: "dartoic myoma" EXACT [DOID:5147] +synonym: "dartoic myoma" EXACT [DOID:5147, NCIT:C4483] synonym: "dartos muscle leiomyoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "leiomyoma of dartos muscle" EXACT [MONDO:design_pattern] xref: DOID:5147 {source="MONDO:equivalentTo"} @@ -60126,7 +60128,7 @@ subset: rare synonym: "gall bladder neurofibroma" EXACT [MONDO:patterns/location] synonym: "gallbladder neurofibroma" EXACT [NCIT:C5746] synonym: "neurofibroma of gall bladder" EXACT [MONDO:design_pattern] -synonym: "neurofibroma of gallbladder" EXACT [NCIT:C5746] +synonym: "neurofibroma of gallbladder" EXACT [DOID:5150, NCIT:C5746] synonym: "neurofibroma of the gallbladder" EXACT [DOID:5150, NCIT:C5746] xref: DOID:5150 {source="MONDO:equivalentTo"} xref: MEDGEN:232540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -60143,7 +60145,7 @@ name: plexiform neurofibroma def: "An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)" [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "plexiform neurofibroma" EXACT [MONDO:ambiguous] +synonym: "plexiform neurofibroma" EXACT [DOID:5151, MONDO:ambiguous, NCIT:C3797] synonym: "plexiform neurofibroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:5151 {source="MONDO:equivalentTo"} xref: HP:0009732 {source="MONDO:otherHierarchy"} @@ -60164,7 +60166,7 @@ name: cellular neurofibroma def: "A neurofibroma characterized by the presence of areas with increased cellularity." [NCIT:C41427] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cellular neurofibroma" EXACT [NCIT:C41427] +synonym: "cellular neurofibroma" EXACT [DOID:5152, NCIT:C41427] xref: DOID:5152 {source="MONDO:equivalentTo"} xref: MEDGEN:275699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C41427 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5152"} @@ -60177,7 +60179,7 @@ name: atypical neurofibroma def: "A neurofibroma characterized by the presence of cellular pleomorphism." [NCIT:C41426] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "atypical neurofibroma" EXACT [NCIT:C41426] +synonym: "atypical neurofibroma" EXACT [DOID:5153] xref: DOID:5153 {source="MONDO:equivalentTo"} xref: MEDGEN:267320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C41426 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5153"} @@ -60187,7 +60189,7 @@ is_a: MONDO:0016755 {source="DOID:5153", source="NCIT:C41426"} ! neurofibroma [Term] id: MONDO:0003307 name: multiple mucosal neuroma -synonym: "multiple mucosal neuromas" RELATED [NCIT:C6559] +synonym: "multiple mucosal neuromas" RELATED [] xref: DOID:5155 {source="MONDO:equivalentTo"} xref: MEDGEN:233722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6559 {source="MONDO:equivalentTo", source="DOID:5155"} @@ -60199,9 +60201,9 @@ id: MONDO:0003308 name: pleural mesothelioma def: "A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath." [NCIT:C9351] subset: otar {source="MONDO:OTAR"} -synonym: "benign pleural mesothelioma" NARROW [DOID:5157] -synonym: "mesothelioma of pleura" EXACT [DOID:5157, NCIT:C9351] -synonym: "mesothelioma of the pleura" EXACT [NCIT:C9351] +synonym: "benign pleural mesothelioma" NARROW [] +synonym: "mesothelioma of pleura" EXACT [DOID:5157] +synonym: "mesothelioma of the pleura" EXACT [] synonym: "pleura mesothelioma" EXACT [MONDO:patterns/location] synonym: "pleural mesothelioma" EXACT [MONDO:ambiguous, NCIT:C9351] synonym: "pleural mesothelioma (disease)" EXACT [MONDO:0006379] @@ -60244,9 +60246,9 @@ subset: otar {source="MONDO:OTAR"} synonym: "endometrial stroma neoplasm" EXACT [] synonym: "endometrial stroma tumor" EXACT [MONDO:patterns/neoplasm] synonym: "endometrial stroma tumour" EXACT OMO:0003005 [] -synonym: "endometrial stromal neoplasm" EXACT [DOID:5166, NCIT:C8384] -synonym: "endometrial stromal tumor" EXACT [] -synonym: "endometrial stromal tumor (morphologic abnormality)" EXACT [DOID:5166] +synonym: "endometrial stromal neoplasm" EXACT [DOID:5166] +synonym: "endometrial stromal tumor" EXACT [DOID:5166] +synonym: "endometrial stromal tumor (morphologic abnormality)" EXACT [] synonym: "endometrial stromal tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "neoplasm of endometrial stroma" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of endometrial stroma" EXACT [MONDO:patterns/neoplasm] @@ -60270,7 +60272,7 @@ name: ovarian endometrioid stromal and related neoplasms def: "A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma." [NCIT:C40065] synonym: "endometrioid stromal and related neoplasms of ovary" EXACT [MONDO:design_pattern] synonym: "ovarian endometrioid stromal and related neoplasms" EXACT [NCIT:C40065] -synonym: "ovarian endometrioid stromal sarcoma" RELATED [DOID:5169] +synonym: "ovarian endometrioid stromal sarcoma" RELATED [] synonym: "ovary endometrioid stromal and related neoplasms" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:5169 {source="MONDO:equivalentTo"} xref: MEDGEN:926076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -60291,7 +60293,7 @@ subset: rare synonym: "endometrioid stromal sarcoma of the vagina" EXACT [NCIT:C40270] synonym: "endometrioid stromal sarcoma of vagina" EXACT [MONDO:design_pattern] synonym: "vagina endometrioid stromal sarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "vaginal endometrial stromal sarcoma" RELATED [DOID:5170] +synonym: "vaginal endometrial stromal sarcoma" RELATED [] xref: DOID:5170 {source="MONDO:equivalentTo"} xref: MEDGEN:770969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40270 {source="MONDO:equivalentTo", source="DOID:5170"} @@ -60312,7 +60314,7 @@ synonym: "endometrioid stromal and related neoplasms of vagina" EXACT [MONDO:des synonym: "endometrioid stromal and related tumors of the vagina" EXACT [NCIT:C40269] synonym: "endometrioid stromal and related tumours of the vagina" EXACT OMO:0003005 [] synonym: "vagina endometrioid stromal and related neoplasms" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "vaginal endometrial stromal tumor" RELATED [DOID:5171] +synonym: "vaginal endometrial stromal tumor" RELATED [] synonym: "vaginal endometrial stromal tumour" RELATED OMO:0003005 [] xref: DOID:5171 {source="MONDO:equivalentTo"} xref: MEDGEN:927117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -60327,8 +60329,8 @@ relationship: excluded_subClassOf MONDO:0001402 {source="DOID:5171", source="htt id: MONDO:0003315 name: endometrium carcinoma in situ def: "A carcinoma in situ involving a endometrium." [MONDO:patterns/carcinoma_in_situ] -synonym: "carcinoma in situ of endometrium" EXACT [DOID:5172, MONDO:patterns/carcinoma_in_situ] -synonym: "endometrial carcinoma in situ" EXACT [DOID:5172, NCIT:C9071] +synonym: "carcinoma in situ of endometrium" EXACT [DOID:5172, ICD10CM:D07.0, MONDO:patterns/carcinoma_in_situ] +synonym: "endometrial carcinoma in situ" EXACT [DOID:5172] synonym: "endometrium in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 endometrium carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] xref: DOID:5172 {source="MONDO:equivalentTo"} @@ -60349,9 +60351,9 @@ def: "Wilms tumor of the kidney characterized by the absence of nuclear anaplasi subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "nonanaplastic kidney Wilms tumor" EXACT [NCIT:C6951] -synonym: "nonanaplastic renal Wilm's tumor" EXACT [DOID:5176, NCIT:C6951] +synonym: "nonanaplastic renal Wilm's tumor" EXACT [NCIT:C6951] synonym: "nonanaplastic renal Wilm's tumour" EXACT OMO:0003005 [] -synonym: "nonanaplastic renal Wilms tumor" EXACT [DOID:5176, NCIT:C6951] +synonym: "nonanaplastic renal Wilms tumor" EXACT [NCIT:C6951] synonym: "nonanaplastic renal Wilms tumour" EXACT OMO:0003005 [] synonym: "nonanaplastic renal Wilms' tumor" EXACT [NCIT:C6951] synonym: "nonanaplastic renal Wilms' tumour" EXACT OMO:0003005 [] @@ -60367,10 +60369,10 @@ def: "Wilms tumor arising in the remaining kidney following treatment of the ori subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "metachronous Wilms tumor" EXACT [NCIT:C38158] -synonym: "metachronous Wilms tumor of the kidney" EXACT [DOID:5178, NCIT:C38158] +synonym: "metachronous Wilms tumor of the kidney" EXACT [NCIT:C38158] synonym: "metachronous Wilms tumour" EXACT OMO:0003005 [] synonym: "metachronous Wilms tumour of the kidney" EXACT OMO:0003005 [] -synonym: "metachronous Wilms' tumor" EXACT [NCIT:C38158] +synonym: "metachronous Wilms' tumor" EXACT [] synonym: "metachronous Wilms' tumour" EXACT OMO:0003005 [] xref: DOID:5178 {source="MONDO:equivalentTo"} xref: MEDGEN:233696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -60388,12 +60390,12 @@ subset: rare synonym: "mixed cell type kidney adenosarcoma" EXACT [NCIT:C9149] synonym: "mixed cell type kidney Wilms tumor" EXACT [NCIT:C9149] synonym: "mixed cell type kidney Wilms tumour" EXACT OMO:0003005 [] -synonym: "mixed cell type nephroblastoma" EXACT [NCIT:C9149] +synonym: "mixed cell type nephroblastoma" EXACT [] synonym: "mixed cell type renal adenosarcoma" EXACT [NCIT:C9149] synonym: "mixed cell type renal Wilm's tumor" EXACT [NCIT:C9149] synonym: "mixed cell type renal Wilm's tumour" EXACT OMO:0003005 [] synonym: "mixed cell type renal Wilms tumor" EXACT [DOID:5179, NCIT:C9149] -synonym: "mixed cell type renal Wilms tumour" EXACT OMO:0003005 [] +synonym: "mixed cell type renal Wilms tumour" EXACT OMO:0003005 [DOID:5179] synonym: "mixed cell type renal Wilms' tumor" EXACT [NCIT:C9149] synonym: "mixed cell type renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "Mixed cell type Wilms tumor" EXACT [NCIT:C9149] @@ -60409,16 +60411,16 @@ relationship: excluded_subClassOf MONDO:0008679 {source="DOID:5179", source="htt id: MONDO:0003319 name: scrotum neoplasm def: "A benign or malignant neoplasm that affects the scrotum." [NCIT:C4380] -synonym: "malignant scrotal neoplasm" NARROW [DOID:518] -synonym: "malignant tumor of scrotum" NARROW [DOID:518] +synonym: "malignant scrotal neoplasm" NARROW [] +synonym: "malignant tumor of scrotum" NARROW [] synonym: "malignant tumour of scrotum" NARROW OMO:0003005 [] -synonym: "neoplasm of scrotum" EXACT [MONDO:patterns/neoplasm, NCIT:C4380] +synonym: "neoplasm of scrotum" EXACT [DOID:518, MONDO:patterns/neoplasm, NCIT:C4380] synonym: "neoplasm of the scrotum" EXACT [NCIT:C4380] synonym: "scrotal Ca" EXACT [DOID:518] synonym: "scrotal neoplasm" EXACT [NCIT:C4380] -synonym: "scrotal tumor" EXACT [NCIT:C4380] +synonym: "scrotal tumor" EXACT [DOID:518, NCIT:C4380] synonym: "scrotal tumour" EXACT OMO:0003005 [] -synonym: "scrotum cancer" NARROW EXCLUDE [DOID:518] +synonym: "scrotum cancer" NARROW EXCLUDE [] synonym: "scrotum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "scrotum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "scrotum tumour" EXACT OMO:0003005 [] @@ -60450,14 +60452,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "blastema predominant kidney adenosarcoma" EXACT [DOID:5182, NCIT:C9147] synonym: "blastema predominant kidney Wilms tumor" EXACT [NCIT:C9147] -synonym: "blastema predominant kidney Wilms' tumor" RELATED [DOID:5182] +synonym: "blastema predominant kidney Wilms' tumor" RELATED [] synonym: "blastema predominant kidney Wilms' tumour" RELATED OMO:0003005 [] synonym: "blastema predominant nephroblastoma" EXACT [NCIT:C9147] synonym: "blastema predominant renal adenosarcoma" EXACT [NCIT:C9147] synonym: "blastema predominant renal Wilm's tumor" EXACT [NCIT:C9147] synonym: "blastema predominant renal Wilm's tumour" EXACT OMO:0003005 [] synonym: "blastema predominant renal Wilms tumor" EXACT [DOID:5182, NCIT:C9147] -synonym: "blastema predominant renal Wilms tumour" EXACT OMO:0003005 [] +synonym: "blastema predominant renal Wilms tumour" EXACT OMO:0003005 [DOID:5182] synonym: "blastema predominant renal Wilms' tumor" EXACT [NCIT:C9147] synonym: "blastema predominant renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "blastema predominant Wilms tumor" EXACT [NCIT:C9147] @@ -60475,17 +60477,17 @@ def: "Familial embryonal neoplasm derived from nephrogenic blastemal cells. Seve subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial Wilms tumor" EXACT [NCIT:C8496] +synonym: "familial Wilms tumor" EXACT [] synonym: "familial Wilms tumour" EXACT OMO:0003005 [] -synonym: "familial Wilms' tumor" EXACT [NCIT:C8496] +synonym: "familial Wilms' tumor" EXACT [] synonym: "familial Wilms' tumour" EXACT OMO:0003005 [] synonym: "hereditary kidney adenosarcoma" EXACT [NCIT:C8496] -synonym: "hereditary nephroblastoma" EXACT [NCIT:C8496] +synonym: "hereditary nephroblastoma" EXACT [] synonym: "hereditary renal adenosarcoma" EXACT [NCIT:C8496] synonym: "hereditary Wilms tumor" EXACT [DOID:5183, MONDO:patterns/hereditary, NCIT:C8496] -synonym: "hereditary Wilms' tumor" EXACT [DOID:5183, NCIT:C8496] -synonym: "hereditary Wilms' tumour" EXACT OMO:0003005 [] -synonym: "WT1" NARROW ABBREVIATION [DOID:5183] +synonym: "hereditary Wilms' tumor" EXACT [DOID:5183] +synonym: "hereditary Wilms' tumour" EXACT OMO:0003005 [DOID:5183] +synonym: "WT1" NARROW ABBREVIATION [] xref: DOID:5183 {source="MONDO:equivalentTo"} xref: MEDGEN:146190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8496 {source="MONDO:equivalentTo", source="DOID:5183"} @@ -60505,12 +60507,12 @@ subset: rare synonym: "epithelial predominant kidney adenosarcoma" EXACT [DOID:5189, NCIT:C9146] synonym: "epithelial predominant kidney Wilms tumor" EXACT [NCIT:C9146] synonym: "epithelial predominant kidney Wilms tumour" EXACT OMO:0003005 [] -synonym: "epithelial predominant nephroblastoma" EXACT [NCIT:C9146] +synonym: "epithelial predominant nephroblastoma" EXACT [] synonym: "epithelial predominant renal adenosarcoma" EXACT [NCIT:C9146] synonym: "epithelial predominant renal Wilm's tumor" EXACT [NCIT:C9146] synonym: "epithelial predominant renal Wilm's tumour" EXACT OMO:0003005 [] synonym: "epithelial predominant renal Wilms tumor" EXACT [DOID:5189, NCIT:C9146] -synonym: "epithelial predominant renal Wilms tumour" EXACT OMO:0003005 [] +synonym: "epithelial predominant renal Wilms tumour" EXACT OMO:0003005 [DOID:5189] synonym: "epithelial predominant renal Wilms' tumor" EXACT [NCIT:C9146] synonym: "epithelial predominant renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "epithelial predominant Wilms tumor" EXACT [NCIT:C9146] @@ -60571,7 +60573,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ganglioneuroblastoma (disease) of peripheral nervous system" EXACT [] synonym: "peripheral ganglioneuroblastoma" EXACT [NCIT:C6594] -synonym: "peripheral nervous system ganglioneuroblastoma" EXACT [NCIT:C6594] +synonym: "peripheral nervous system ganglioneuroblastoma" EXACT [DOID:5195, NCIT:C6594] synonym: "peripheral nervous system ganglioneuroblastoma (disease)" EXACT [MONDO:patterns/location] synonym: "PNS ganglioneuroblastoma" EXACT [DOID:5195, NCIT:C6594] xref: DOID:5195 {source="MONDO:equivalentTo"} @@ -60588,7 +60590,7 @@ name: fallopian tube adenomatoid tumor def: "A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding." [NCIT:C40129] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "fallopian tube adenomatoid tumor" EXACT [MONDO:patterns/location, NCIT:C40129] +synonym: "fallopian tube adenomatoid tumor" EXACT [DOID:5196, MONDO:patterns/location, NCIT:C40129] xref: DOID:5196 {source="MONDO:equivalentTo"} xref: MEDGEN:273291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40129 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5196"} @@ -60602,7 +60604,7 @@ intersection_of: disease_has_location UBERON:0003889 ! fallopian tube id: MONDO:0003329 name: ureteral obstruction def: "Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy." [MESH:D014517] -synonym: "ureteral obstruction" EXACT [MONDO:ambiguous] +synonym: "ureteral obstruction" EXACT [DOID:5199, MONDO:ambiguous] synonym: "ureteral obstruction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:5199 {source="MONDO:equivalentTo"} xref: HP:0006000 {source="MONDO:otherHierarchy"} @@ -60645,8 +60647,8 @@ name: ovarian monodermal teratoma def: "A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer." [NCIT:C7286] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "monodermal teratoma" EXACT [NCIT:C7286] -synonym: "monodermal teratoma (morphologic abnormality)" EXACT [DOID:5207] +synonym: "monodermal teratoma" EXACT [DOID:5207, NCIT:C7286] +synonym: "monodermal teratoma (morphologic abnormality)" EXACT [] synonym: "ovarian monodermal teratoma" EXACT [DOID:5207, NCIT:C7286] xref: DOID:5207 {source="MONDO:equivalentTo"} xref: MEDGEN:266265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -60661,8 +60663,8 @@ name: malignant struma ovarii def: "An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion)." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "struma ovarii, malignant" EXACT [MONDO:patterns/malignant] -synonym: "struma ovarii, malignant (morphologic abnormality)" EXACT [DOID:5208] +synonym: "struma ovarii, malignant" EXACT [DOID:5208, MONDO:patterns/malignant, NCIT:C4291] +synonym: "struma ovarii, malignant (morphologic abnormality)" EXACT [] xref: DOID:5208 {source="MONDO:equivalentTo"} xref: ICDO:9090/3 {source="NCIT:C4291"} xref: MEDGEN:137777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -60681,7 +60683,7 @@ name: benign struma ovarii def: "A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues." [NCIT:C40012] subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "benign struma ovarii" EXACT [NCIT:C40012] +synonym: "benign struma ovarii" EXACT [] synonym: "struma ovarii, benign" EXACT [MONDO:patterns/benign] xref: DOID:5209 {source="MONDO:equivalentTo"} xref: NCIT:C40012 {source="MONDO:equivalentObsolete", source="DOID:5209"} @@ -60729,7 +60731,7 @@ def: "A fulminant and often fatal demyelinating disease of the brain which prima subset: gard_rare {source="GARD:13233", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "acute necrotizing encephalitis" EXACT [GARD:0013233] +synonym: "acute necrotizing encephalitis" EXACT [DOID:5222, GARD:0013233, NCIT:C35383] synonym: "acute necrotizing encephalopathy" RELATED [GARD:0013233] synonym: "ANE" RELATED ABBREVIATION [GARD:0013233] xref: DOID:5222 {source="MONDO:equivalentTo"} @@ -60750,7 +60752,7 @@ name: acute hemorrhagic encephalitis def: "Acute encephalitis that is characterized by bleeding." [NCIT:C35796] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "acute hemorrhagic encephalitis" EXACT [NCIT:C35796] +synonym: "acute hemorrhagic encephalitis" EXACT [DOID:5224, NCIT:C35796] xref: DOID:5224 {source="MONDO:equivalentTo"} xref: MEDGEN:231027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35796 {source="DOID:5224", source="MONDO:equivalentTo"} @@ -60780,8 +60782,8 @@ name: malignant glomus tumor def: "A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course." [NCIT:C4221] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glomangiosarcoma" EXACT [NCIT:C4221] -synonym: "glomus tumor, malignant" EXACT [MONDO:patterns/malignant] +synonym: "glomangiosarcoma" EXACT [DOID:5233, NCIT:C4221] +synonym: "glomus tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4221] synonym: "malignant glomus neoplasm" EXACT [DOID:5233, NCIT:C4221] synonym: "malignant glomus tumor" EXACT [NCIT:C4221] xref: DOID:5233 {source="MONDO:equivalentTo"} @@ -60820,11 +60822,11 @@ id: MONDO:0003342 name: benign perivascular tumor def: "A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." [NCIT:P378] synonym: "benign Pericytic neoplasm" EXACT [NCIT:C6529] -synonym: "benign pericytic neoplasm" EXACT [] +synonym: "benign pericytic neoplasm" EXACT [NCIT:C6529] synonym: "benign Pericytic tumor" EXACT [NCIT:C6529] synonym: "benign Pericytic tumour" EXACT OMO:0003005 [] synonym: "benign perivascular neoplasm" EXACT [NCIT:C6529] -synonym: "benign perivascular tumor" EXACT [NCIT:C6529] +synonym: "benign perivascular tumor" EXACT [DOID:5238, NCIT:C6529] synonym: "pericytic neoplasm, benign" EXACT [MONDO:patterns/benign] xref: DOID:5238 {source="MONDO:equivalentTo"} xref: MEDGEN:231437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -60842,8 +60844,8 @@ def: "A hemangioblastoma that arises from the retina. It is typically a sign of subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "hemangioblastoma of vasculature of retina" EXACT [MONDO:design_pattern] -synonym: "retinal capillary hemangioblastoma" EXACT [NCIT:C39783] -synonym: "retinal hemangioblastoma" EXACT [NCIT:C39783] +synonym: "retinal capillary hemangioblastoma" EXACT [] +synonym: "retinal hemangioblastoma" EXACT [DOID:5240, NCIT:C39783] synonym: "vasculature of retina hemangioblastoma" EXACT [MONDO:patterns/location] xref: DOID:5240 {source="MONDO:equivalentTo"} xref: MEDGEN:152677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -60873,15 +60875,15 @@ subset: rare synonym: "cholangiocarcinoma of hilar portion of hepatic duct" EXACT [MONDO:design_pattern] synonym: "hilar CC" EXACT [NCIT:C36077] synonym: "hilar CCA" EXACT [Orphanet:99978] -synonym: "hilar cholangiocarcinoma" EXACT [DOID:4927, NCIT:C36077, Orphanet:99978] -synonym: "hilar cholangiocellular carcinoma" RELATED [DOID:5246] +synonym: "hilar cholangiocarcinoma" EXACT [DOID:4927, icd11.foundation:1571104786, NCIT:C36077, Orphanet:99978] +synonym: "hilar cholangiocellular carcinoma" RELATED [] synonym: "hilar portion of hepatic duct cholangiocarcinoma" EXACT [MONDO:patterns/location] -synonym: "Klatskin tumor" EXACT [DOID:4927, MONDO:0020566, NCIT:C36077] -synonym: "Klatskin tumour" EXACT OMO:0003005 [] -synonym: "Klatskin's tumor" EXACT [GARD:0010175, MONDO:0006822] -synonym: "Klatskin's tumour" EXACT OMO:0003005 [] +synonym: "Klatskin tumor" EXACT [DOID:4927, MONDO:0020566, NCIT:C36077, Orphanet:99978] +synonym: "Klatskin tumour" EXACT OMO:0003005 [DOID:4927] +synonym: "Klatskin's tumor" EXACT [DOID:4927, GARD:0010175, MONDO:0006822] +synonym: "Klatskin's tumour" EXACT OMO:0003005 [DOID:4927] synonym: "perihilar cholangiocarcinoma" RELATED [GARD:0010175] -synonym: "perihilar extrahepatic bile duct carcinoma" EXACT [DOID:4927, NCIT:C5859] +synonym: "perihilar extrahepatic bile duct carcinoma" EXACT [DOID:4927] xref: DOID:4927 {source="MONDO:equivalentTo", source="EFO:1001005"} xref: DOID:5246 {source="MONDO:equivalentObsolete"} xref: EFO:1001959 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -60909,7 +60911,7 @@ def: "Vasculitis affecting the blood vessels of the brain and/or spinal cord." [ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "central nervous system vasculitis" EXACT [MONDO:patterns/location] +synonym: "central nervous system vasculitis" EXACT [DOID:525, MONDO:patterns/location, NCIT:C84622] synonym: "vasculitis of central nervous system" EXACT [MONDO:design_pattern] xref: DOID:525 {source="MONDO:equivalentTo"} xref: MEDGEN:148408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -60927,7 +60929,7 @@ name: inflammatory leiomyosarcoma def: "A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells." [NCIT:C27495] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "inflammatory leiomyosarcoma" EXACT [NCIT:C27495] +synonym: "inflammatory leiomyosarcoma" EXACT [DOID:5251, NCIT:C27495] xref: DOID:5251 {source="MONDO:equivalentTo"} xref: MEDGEN:233554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27495 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5251"} @@ -60941,7 +60943,7 @@ def: "An uncommon, aggressive malignant smooth muscle neoplasm. It is characteri subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "classic leiomyosarcoma" EXACT [NCIT:C9428] -synonym: "conventional leiomyosarcoma" EXACT [NCIT:C9428] +synonym: "conventional leiomyosarcoma" EXACT [DOID:5253, NCIT:C9428] xref: DOID:5253 {source="MONDO:equivalentTo"} xref: MEDGEN:232394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9428 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5253"} @@ -60954,7 +60956,7 @@ name: central nervous system leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6999] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "central nervous system leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6999] +synonym: "central nervous system leiomyosarcoma" EXACT [DOID:5254, MONDO:patterns/location, NCIT:C6999] synonym: "CNS leiomyosarcoma" EXACT [NCIT:C6999] synonym: "leiomyosarcoma of central nervous system" EXACT [NCIT:C6999] synonym: "leiomyosarcoma of CNS" EXACT [NCIT:C6999] @@ -60977,7 +60979,7 @@ def: "An aggressive malignant smooth muscle neoplasm. It is characterized by the subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "granular cell leiomyosarcoma" EXACT [NCIT:C27494] +synonym: "granular cell leiomyosarcoma" EXACT [DOID:5258, NCIT:C27494] xref: DOID:5258 {source="MONDO:equivalentTo"} xref: MEDGEN:234321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27494 {source="NCIT:C27494", source="DOID:5258", source="MONDO:equivalentTo"} @@ -60993,7 +60995,7 @@ name: colon leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5494] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "colon leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5494] +synonym: "colon leiomyosarcoma" EXACT [DOID:5259, MONDO:patterns/location, NCIT:C5494] synonym: "colonic leiomyosarcoma" EXACT [DOID:5259, NCIT:C5494] synonym: "leiomyosarcoma of colon" EXACT [NCIT:C5494] synonym: "leiomyosarcoma of the colon" EXACT [NCIT:C5494] @@ -61010,7 +61012,7 @@ intersection_of: disease_has_location UBERON:0001155 ! colon id: MONDO:0003352 name: colon sarcoma def: "A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma." [NCIT:C5495] -synonym: "colon sarcoma" EXACT [MONDO:patterns/location, NCIT:C5495] +synonym: "colon sarcoma" EXACT [DOID:5260, MONDO:patterns/location, NCIT:C5495] synonym: "colonic sarcoma" EXACT [DOID:5260, NCIT:C5495] synonym: "sarcoma of colon" EXACT [MONDO:patterns/sarcoma, NCIT:C5495] synonym: "sarcoma of the colon" EXACT [NCIT:C5495] @@ -61031,7 +61033,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cardiac leiomyosarcoma" EXACT [NCIT:C5364] -synonym: "heart leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5364] +synonym: "heart leiomyosarcoma" EXACT [DOID:5261, MONDO:patterns/location, NCIT:C5364] synonym: "leiomyosarcoma of heart" EXACT [DOID:5261, NCIT:C5364] synonym: "leiomyosarcoma of the heart" EXACT [NCIT:C5364] xref: DOID:5261 {source="MONDO:equivalentTo"} @@ -61050,9 +61052,9 @@ def: "A malignant soft tissue neoplasm that arises from the heart. The majority subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cardiac sarcoma" EXACT [NCIT:C7723] +synonym: "Cardiac sarcoma" EXACT [DOID:5262, NCIT:C7723] synonym: "cardiac sarcoma" EXACT [DOID:5262, NCIT:C7723] -synonym: "heart sarcoma" EXACT [MONDO:patterns/location, NCIT:C7723] +synonym: "heart sarcoma" EXACT [DOID:5262, MONDO:patterns/location, NCIT:C7723] synonym: "sarcoma of heart" EXACT [DOID:5262, MONDO:patterns/sarcoma, NCIT:C7723] synonym: "sarcoma of the heart" EXACT [NCIT:C7723] xref: DOID:5262 {source="MONDO:equivalentTo"} @@ -61075,7 +61077,7 @@ subset: rare synonym: "leiomyosarcoma of ovary" EXACT [DOID:5263, NCIT:C5234] synonym: "leiomyosarcoma of the ovary" EXACT [NCIT:C5234] synonym: "ovarian leiomyosarcoma" EXACT [MONDO:0005612, NCIT:C5234] -synonym: "ovary leiomyosarcoma" EXACT [MONDO:patterns/location] +synonym: "ovary leiomyosarcoma" EXACT [DOID:5263, MONDO:patterns/location] xref: DOID:5263 {source="MONDO:equivalentTo"} xref: EFO:0006718 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:233275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61092,7 +61094,7 @@ name: epithelioid leiomyosarcoma def: "A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm." [NCIT:C3700] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "epithelioid leiomyosarcoma" EXACT [NCIT:C3700] +synonym: "epithelioid leiomyosarcoma" EXACT [DOID:5264, NCIT:C3700] xref: DOID:5264 {source="MONDO:equivalentTo"} xref: ICDO:8891/3 {source="NCIT:C3700"} xref: MEDGEN:61454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61110,7 +61112,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "leiomyosarcoma of lung" EXACT [NCIT:C5667] synonym: "leiomyosarcoma of the lung" EXACT [NCIT:C5667] -synonym: "lung leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5667] +synonym: "lung leiomyosarcoma" EXACT [DOID:5265, MONDO:patterns/location, NCIT:C5667] synonym: "pulmonary leiomyosarcoma" EXACT [DOID:5265, NCIT:C5667] xref: DOID:5265 {source="MONDO:equivalentTo"} xref: MEDGEN:232711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61128,7 +61130,7 @@ def: "An aggressive malignant smooth muscle neoplasm, arising from the anus. It subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "anal leiomyosarcoma" EXACT [NCIT:C5599] -synonym: "anus leiomyosarcoma" EXACT [MONDO:patterns/location] +synonym: "anus leiomyosarcoma" EXACT [DOID:5267, MONDO:patterns/location] synonym: "leiomyosarcoma of anus" EXACT [DOID:5267, NCIT:C5599] synonym: "leiomyosarcoma of the anus" EXACT [NCIT:C5599] xref: DOID:5267 {source="MONDO:equivalentTo"} @@ -61146,7 +61148,7 @@ def: "A morphologic variant of leiomyosarcoma characterized by the presence of c subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "myxoid leiomyosarcoma" EXACT [DOID:5268, NCIT:C3701] -synonym: "myxoid leiomyosarcoma (morphologic abnormality)" EXACT [DOID:5268] +synonym: "myxoid leiomyosarcoma (morphologic abnormality)" EXACT [] xref: DOID:5268 {source="MONDO:equivalentTo"} xref: ICDO:8896/3 {source="NCIT:C3701"} xref: MEDGEN:104725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61167,12 +61169,12 @@ subset: ordo_disorder {source="Orphanet:104076"} subset: orphanet_rare {source="Orphanet:104076"} subset: rare synonym: "leiomyosarcoma of small bowel" EXACT [NCIT:C7085] -synonym: "leiomyosarcoma of small intestine" EXACT [MONDO:0015190, NCIT:C7085] +synonym: "leiomyosarcoma of small intestine" EXACT [MONDO:0015190, NCIT:C7085, Orphanet:104076] synonym: "leiomyosarcoma of the small bowel" EXACT [DOID:5271, NCIT:C7085] synonym: "leiomyosarcoma of the small intestine" EXACT [NCIT:C7085] synonym: "small bowel leiomyosarcoma" EXACT [NCIT:C7085] synonym: "small intestinal leiomyosarcoma" EXACT [NCIT:C7085] -synonym: "small intestine leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C7085] +synonym: "small intestine leiomyosarcoma" EXACT [DOID:5271, MONDO:patterns/location, NCIT:C7085] synonym: "smooth muscle connective tissue tumor" RELATED [DOID:5271] synonym: "smooth muscle connective tissue tumour" RELATED OMO:0003005 [] xref: DOID:5271 {source="MONDO:equivalentTo"} @@ -61205,7 +61207,7 @@ synonym: "sarcoma of the small bowel" EXACT [NCIT:C5335] synonym: "sarcoma of the small intestine" EXACT [DOID:5272, NCIT:C5335] synonym: "sarcoma, small intestinal" EXACT [NCIT:C5335] synonym: "small bowel sarcoma" EXACT [NCIT:C5335] -synonym: "small intestinal sarcoma" EXACT [NCIT:C5335] +synonym: "small intestinal sarcoma" EXACT [DOID:5272, NCIT:C5335] synonym: "small intestine sarcoma" EXACT [MONDO:patterns/location, NCIT:C5335] xref: DOID:5272 {source="MONDO:equivalentTo"} xref: MEDGEN:233455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61223,7 +61225,7 @@ name: cutaneous leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cutaneous leiomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C4484] +synonym: "cutaneous leiomyosarcoma" EXACT [DOID:5273, icd11.foundation:1653448241, MONDO:ambiguous, NCIT:C4484] synonym: "cutaneous leiomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "leiomyosarcoma of skin" EXACT [NCIT:C4484] synonym: "leiomyosarcoma of the skin" EXACT [DOID:5273, NCIT:C4484] @@ -61253,12 +61255,12 @@ synonym: "cancer of dermis" EXACT [MONDO:patterns/cancer] synonym: "dermis cancer" EXACT [MONDO:patterns/location] synonym: "malignant dermal neoplasm" EXACT [NCIT:C4574] synonym: "malignant dermis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4574] -synonym: "malignant dermis tumor" EXACT [NCIT:C4574] +synonym: "malignant dermis tumor" EXACT [DOID:5274, NCIT:C4574] synonym: "malignant neoplasm of dermis" EXACT [DOID:5274, MONDO:patterns/cancer, NCIT:C4574] synonym: "malignant neoplasm of the dermis" EXACT [NCIT:C4574] -synonym: "malignant tumor of dermis" EXACT [NCIT:C4574] +synonym: "malignant tumor of dermis" EXACT [DOID:5274, NCIT:C4574] synonym: "malignant tumor of the dermis" EXACT [NCIT:C4574] -synonym: "malignant tumour of dermis" EXACT OMO:0003005 [] +synonym: "malignant tumour of dermis" EXACT OMO:0003005 [DOID:5274] synonym: "malignant tumour of the dermis" EXACT OMO:0003005 [] xref: DOID:5274 {source="MONDO:equivalentTo"} xref: MEDGEN:87564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61277,7 +61279,7 @@ def: "An aggressive malignant smooth muscle neoplasm, arising from the gallbladd subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "gall bladder leiomyosarcoma" EXACT [MONDO:patterns/location] -synonym: "gallbladder leiomyosarcoma" EXACT [NCIT:C5841] +synonym: "gallbladder leiomyosarcoma" EXACT [DOID:5275, NCIT:C5841] synonym: "leiomyosarcoma of gall bladder" EXACT [MONDO:design_pattern] synonym: "leiomyosarcoma of gallbladder" EXACT [NCIT:C5841] synonym: "leiomyosarcoma of the gallbladder" EXACT [DOID:5275, NCIT:C5841] @@ -61297,9 +61299,9 @@ def: "An aggressive malignant smooth muscle neoplasm, arising from the esophagus subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "esophageal leiomyosarcoma" EXACT [NCIT:C5334] -synonym: "esophagus leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5334] +synonym: "esophagus leiomyosarcoma" EXACT [DOID:5276, MONDO:patterns/location, NCIT:C5334] synonym: "leiomyosarcoma of esophagus" EXACT [DOID:5276, NCIT:C5334] -synonym: "leiomyosarcoma of oesophagus" EXACT OMO:0003005 [] +synonym: "leiomyosarcoma of oesophagus" EXACT OMO:0003005 [DOID:5276] synonym: "leiomyosarcoma of the esophagus" EXACT [NCIT:C5334] synonym: "leiomyosarcoma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:5276 {source="MONDO:equivalentTo"} @@ -61333,7 +61335,7 @@ name: gastric leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C27200] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "gastric leiomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C27200] +synonym: "gastric leiomyosarcoma" EXACT [DOID:5280, MONDO:ambiguous, NCIT:C27200] synonym: "gastric leiomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "leiomyosarcoma of stomach" EXACT [MONDO:design_pattern] synonym: "stomach leiomyosarcoma" EXACT [MONDO:patterns/location] @@ -61360,7 +61362,7 @@ synonym: "leiomyosarcoma of prostate" EXACT [NCIT:C5526] synonym: "leiomyosarcoma of prostate gland" EXACT [MONDO:design_pattern] synonym: "leiomyosarcoma of the prostate" EXACT [DOID:5282, NCIT:C5526] synonym: "prostate gland leiomyosarcoma" EXACT [MONDO:patterns/location] -synonym: "prostate leiomyosarcoma" EXACT [NCIT:C5526] +synonym: "prostate leiomyosarcoma" EXACT [DOID:5282, NCIT:C5526] xref: DOID:5282 {source="MONDO:equivalentTo"} xref: MEDGEN:233876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5526 {source="MONDO:equivalentTo", source="DOID:5282", source="MONDO:exact-label-match"} @@ -61378,7 +61380,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "leiomyosarcoma of the vagina" EXACT [DOID:5283, NCIT:C6326] synonym: "leiomyosarcoma of vagina" EXACT [NCIT:C6326] -synonym: "vagina leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6326] +synonym: "vagina leiomyosarcoma" EXACT [DOID:5283, MONDO:patterns/location, NCIT:C6326] synonym: "vaginal leiomyosarcoma" EXACT [NCIT:C6326] xref: DOID:5283 {source="MONDO:equivalentTo"} xref: MEDGEN:277860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61396,7 +61398,7 @@ def: "An aggressive malignant smooth muscle neoplasm, arising from the retroperi subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "leiomyosarcoma of retroperitoneal space" EXACT [MONDO:design_pattern] -synonym: "retroperitoneal leiomyosarcoma" EXACT [NCIT:C27904] +synonym: "retroperitoneal leiomyosarcoma" EXACT [DOID:5284, NCIT:C27904] synonym: "retroperitoneal space leiomyosarcoma" EXACT [MONDO:patterns/location] xref: DOID:5284 {source="MONDO:equivalentTo"} xref: MEDGEN:412162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61413,7 +61415,7 @@ name: breast leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C5186] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "breast leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5186] +synonym: "breast leiomyosarcoma" EXACT [DOID:5285, MONDO:patterns/location, NCIT:C5186] synonym: "leiomyosarcoma of breast" EXACT [NCIT:C5186] synonym: "leiomyosarcoma of the breast" EXACT [DOID:5285, NCIT:C5186] xref: DOID:5285 {source="MONDO:equivalentTo"} @@ -61450,7 +61452,7 @@ name: kidney leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C6183] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "kidney leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6183] +synonym: "kidney leiomyosarcoma" EXACT [DOID:5287, MONDO:patterns/location, NCIT:C6183] synonym: "leiomyosarcoma of kidney" EXACT [DOID:5287, NCIT:C6183] synonym: "leiomyosarcoma of the kidney" EXACT [NCIT:C6183] synonym: "renal leiomyosarcoma" EXACT [NCIT:C6183] @@ -61470,7 +61472,7 @@ def: "An aggressive malignant smooth muscle neoplasm, arising from the larynx. I subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "laryngeal leiomyosarcoma" EXACT [NCIT:C6022] -synonym: "larynx leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6022] +synonym: "larynx leiomyosarcoma" EXACT [DOID:5288, MONDO:patterns/location, NCIT:C6022] synonym: "leiomyosarcoma of larynx" EXACT [DOID:5288, NCIT:C6022] synonym: "leiomyosarcoma of the larynx" EXACT [NCIT:C6022] xref: DOID:5288 {source="MONDO:equivalentTo"} @@ -61498,7 +61500,7 @@ subset: rare synonym: "leiomyosarcoma of mediastinum" EXACT [DOID:5292, NCIT:C6619] synonym: "leiomyosarcoma of the mediastinum" EXACT [NCIT:C6619] synonym: "mediastinal leiomyosarcoma" EXACT [NCIT:C6619] -synonym: "mediastinum leiomyosarcoma" EXACT [MONDO:patterns/location] +synonym: "mediastinum leiomyosarcoma" EXACT [DOID:5292, MONDO:patterns/location] xref: DOID:5292 {source="MONDO:equivalentTo"} xref: MEDGEN:235310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6619 {source="MONDO:equivalentTo", source="DOID:5292"} @@ -61515,7 +61517,7 @@ def: "An aggressive malignant smooth muscle neoplasm, arising from an extrahepat subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "bile duct leiomyosarcoma" EXACT [NCIT:C5848] -synonym: "extrahepatic bile duct leiomyosarcoma" EXACT [MONDO:patterns/location] +synonym: "extrahepatic bile duct leiomyosarcoma" EXACT [DOID:5293, MONDO:patterns/location, NCIT:C5848] synonym: "leiomyosarcoma of bile duct" EXACT [NCIT:C5848] synonym: "leiomyosarcoma of extrahepatic bile duct" EXACT [NCIT:C5848] synonym: "leiomyosarcoma of the bile duct" EXACT [DOID:5293, NCIT:C5848] @@ -61539,7 +61541,7 @@ subset: rare synonym: "hepatic leiomyosarcoma" EXACT [NCIT:C5756] synonym: "leiomyosarcoma of liver" EXACT [NCIT:C5756] synonym: "leiomyosarcoma of the liver" EXACT [DOID:5296, NCIT:C5756] -synonym: "liver leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C5756] +synonym: "liver leiomyosarcoma" EXACT [DOID:5296, MONDO:patterns/location, NCIT:C5756] xref: DOID:5296 {source="MONDO:equivalentTo"} xref: MEDGEN:272707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5756 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5296"} @@ -61558,7 +61560,7 @@ subset: rare synonym: "leiomyosarcoma of rectum" EXACT [DOID:5297, NCIT:C5549] synonym: "leiomyosarcoma of the rectum" EXACT [NCIT:C5549] synonym: "rectal leiomyosarcoma" EXACT [NCIT:C5549] -synonym: "rectum leiomyosarcoma" EXACT [MONDO:patterns/location] +synonym: "rectum leiomyosarcoma" EXACT [DOID:5297, MONDO:patterns/location] xref: DOID:5297 {source="MONDO:equivalentTo"} xref: MEDGEN:233391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5549 {source="MONDO:equivalentTo", source="DOID:5297"} @@ -61583,7 +61585,7 @@ synonym: "disease of pituitary gland" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pituitary gland" EXACT [] synonym: "disorder of pituitary gland" EXACT [MONDO:patterns/location_top] synonym: "pituitary disease" EXACT [DOID:53] -synonym: "pituitary gland disease" EXACT [MONDO:patterns/location, NCIT:C26854] +synonym: "pituitary gland disease" EXACT [DOID:53, MONDO:patterns/location, NCIT:C26854] synonym: "pituitary gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "pituitary gland disorder" EXACT [NCIT:C26854] xref: DOID:53 {source="MONDO:equivalentTo"} @@ -61609,7 +61611,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of eyelid" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of eyelid" EXACT [] synonym: "disorder of eyelid" EXACT [MONDO:patterns/location_top] -synonym: "eyelid disease" EXACT [MONDO:patterns/location] +synonym: "eyelid disease" EXACT [DOID:530, MONDO:patterns/location] synonym: "eyelid disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "eyelid disorder" EXACT [NCIT:C26768] xref: DOID:530 {source="MONDO:equivalentTo"} @@ -61642,7 +61644,7 @@ synonym: "clear cell adenocarcinoma of fallopian tube" EXACT [NCIT:C6280] synonym: "clear cell adenocarcinoma of the fallopian tube" EXACT [NCIT:C6280] synonym: "clear cell carcinoma of fallopian tube" EXACT [NCIT:C6280] synonym: "clear cell carcinoma of the fallopian tube" EXACT [DOID:5301, NCIT:C6280] -synonym: "fallopian tube clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6280] +synonym: "fallopian tube clear cell adenocarcinoma" EXACT [DOID:5301, MONDO:patterns/location, NCIT:C6280] synonym: "fallopian tube clear cell carcinoma" EXACT [NCIT:C6280] xref: DOID:5301 {source="MONDO:equivalentTo"} xref: MEDGEN:232184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61660,7 +61662,7 @@ def: "A clear cell adenocarcinoma of the uterine ligament composed mainly of cle subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "uterine ligament clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40139] +synonym: "uterine ligament clear cell adenocarcinoma" EXACT [DOID:5302, MONDO:patterns/location] xref: DOID:5302 {source="MONDO:equivalentTo"} xref: NCIT:C40139 {source="DOID:5302", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} is_a: MONDO:0002741 {source="DOID:5302", source="MONDO:Redundant", source="NCIT:C40139"} ! uterine ligament adenocarcinoma @@ -61678,12 +61680,12 @@ replaced_by: MONDO:0006135 id: MONDO:0003386 name: bladder clear cell adenocarcinoma def: "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria." [NCIT:C6179] -synonym: "bladder clear cell adenocarcinoma" EXACT [NCIT:C6179] -synonym: "bladder mesonephric adenocarcinoma" EXACT [DOID:5306, NCIT:C6179] -synonym: "clear cell adenocarcinoma of bladder" RELATED [DOID:5306, NCIT:C6179] -synonym: "clear cell adenocarcinoma of the bladder" RELATED [NCIT:C6179] -synonym: "clear cell adenocarcinoma of the urinary bladder" RELATED [NCIT:C6179] -synonym: "clear cell adenocarcinoma of urinary bladder" RELATED [NCIT:C6179] +synonym: "bladder clear cell adenocarcinoma" EXACT [DOID:5306, NCIT:C6179] +synonym: "bladder mesonephric adenocarcinoma" EXACT [DOID:5306] +synonym: "clear cell adenocarcinoma of bladder" RELATED [DOID:5306] +synonym: "clear cell adenocarcinoma of the bladder" RELATED [] +synonym: "clear cell adenocarcinoma of the urinary bladder" RELATED [] +synonym: "clear cell adenocarcinoma of urinary bladder" RELATED [] synonym: "urinary bladder clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6179] xref: DOID:5306 {source="MONDO:equivalentTo"} xref: MEDGEN:272370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61700,7 +61702,7 @@ name: urethra clear cell adenocarcinoma def: "A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells." [NCIT:P378] synonym: "clear cell adenocarcinoma of the urethra" EXACT [DOID:5307, NCIT:C6172] synonym: "clear cell adenocarcinoma of urethra" EXACT [NCIT:C6172] -synonym: "urethra clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6172] +synonym: "urethra clear cell adenocarcinoma" EXACT [DOID:5307, MONDO:patterns/location, NCIT:C6172] synonym: "urethral clear cell adenocarcinoma" EXACT [NCIT:C6172] xref: DOID:5307 {source="MONDO:equivalentTo"} xref: MEDGEN:277846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61717,7 +61719,7 @@ name: ampulla of vater clear cell adenocarcinoma def: "A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei." [NCIT:C27414] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ampulla of Vater clear cell adenocarcinoma" EXACT [NCIT:C27414] +synonym: "ampulla of Vater clear cell adenocarcinoma" EXACT [DOID:5308, NCIT:C27414] synonym: "hepatopancreatic ampulla clear cell adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5308 {source="MONDO:equivalentTo"} xref: MEDGEN:233972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61734,7 +61736,7 @@ id: MONDO:0003389 name: epithelial-myoepithelial carcinoma def: "A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm." [NCIT:C4199] synonym: "EMYOCA" RELATED ABBREVIATION [ONCOTREE:EMYOCA] -synonym: "epithelial-myoepithelial carcinoma" EXACT [NCIT:C4199] +synonym: "epithelial-myoepithelial carcinoma" EXACT [DOID:5309, NCIT:C4199] xref: DOID:5309 {source="MONDO:equivalentTo"} xref: ICDO:8562/3 {source="NCIT:C4199"} xref: MEDGEN:90776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61750,8 +61752,8 @@ relationship: excluded_subClassOf MONDO:0004669 {source="DOID:5309", source="htt id: MONDO:0003390 name: glycogen-rich clear cell breast carcinoma def: "An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen." [NCIT:C40368] -synonym: "glycogen-rich carcinoma" BROAD [DOID:5310, NCIT:C4153] -synonym: "glycogen-rich carcinoma (morphologic abnormality)" BROAD [DOID:5310] +synonym: "glycogen-rich carcinoma" BROAD [] +synonym: "glycogen-rich carcinoma (morphologic abnormality)" BROAD [] synonym: "glycogen-rich, clear cell breast carcinoma" EXACT [NCIT:C40368] xref: DOID:5310 {source="MONDO:equivalentTo"} xref: ICDO:8315/3 {source="NCIT:C4153"} @@ -61791,8 +61793,8 @@ name: fallopian tube germ cell tumor def: "A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas." [NCIT:C40130] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "fallopian tube germ cell cancer" RELATED [DOID:5324] -synonym: "fallopian tube germ cell neoplasm" EXACT [DOID:5324, NCIT:C40130] +synonym: "fallopian tube germ cell cancer" RELATED [] +synonym: "fallopian tube germ cell neoplasm" EXACT [NCIT:C40130] synonym: "fallopian tube germ cell tumor" EXACT [MONDO:patterns/location, NCIT:C40130] xref: DOID:5324 {source="MONDO:equivalentTo"} xref: MEDGEN:274487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -61841,7 +61843,7 @@ id: MONDO:0003394 name: dental pulp disorder def: "A disease involving the dental pulp." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "dental pulp disease" EXACT [MONDO:patterns/location] +synonym: "dental pulp disease" EXACT [DOID:5330, MONDO:patterns/location] synonym: "dental pulp disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "dental pulp disorder" EXACT [DOID:5330, NCIT:C34530] synonym: "disease of dental pulp" EXACT [MONDO:patterns/location_top] @@ -61868,14 +61870,14 @@ name: testicular granulosa cell tumor def: "A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile." [NCIT:C6357] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "granulosa cell neoplasm of testis" RELATED [NCIT:C6357] -synonym: "granulosa cell neoplasm of the testis" RELATED [NCIT:C6357] +synonym: "granulosa cell neoplasm of testis" RELATED [] +synonym: "granulosa cell neoplasm of the testis" RELATED [] synonym: "granulosa cell tumor of testis" EXACT [DOID:5331, NCIT:C6357] -synonym: "granulosa cell tumor of the testis" RELATED [NCIT:C6357] -synonym: "granulosa cell tumour of testis" EXACT OMO:0003005 [] +synonym: "granulosa cell tumor of the testis" RELATED [] +synonym: "granulosa cell tumour of testis" EXACT OMO:0003005 [DOID:5331] synonym: "granulosa cell tumour of the testis" RELATED OMO:0003005 [] -synonym: "testicular granulosa cell neoplasm" RELATED [NCIT:C6357] -synonym: "testicular granulosa cell tumor" EXACT [NCIT:C6357] +synonym: "testicular granulosa cell neoplasm" RELATED [] +synonym: "testicular granulosa cell tumor" EXACT [DOID:5331, NCIT:C6357] synonym: "testis granulosa cell tumor" EXACT [MONDO:patterns/location] synonym: "testis granulosa cell tumour" EXACT OMO:0003005 [] xref: DOID:5331 {source="MONDO:equivalentTo"} @@ -61894,7 +61896,7 @@ name: epulis def: "A non-neoplastic nodular lesion that arises from the gingiva." [NCIT:P378] synonym: "epulides" EXACT [DOID:5337] synonym: "gingiva polyp" EXACT [MONDO:patterns/location] -synonym: "gingival polyp" EXACT [DOID:5337] +synonym: "gingival polyp" EXACT [DOID:5337, NCIT:C3948] synonym: "gum polyp" EXACT [NCIT:C3948] synonym: "polyp of gingiva" EXACT [NCIT:C3948] synonym: "polyp of gum" EXACT [DOID:5337, NCIT:C3948] @@ -61947,22 +61949,22 @@ name: pineal region yolk sac tumor def: "A yolk sac tumor that involves the pineal body." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "endodermal sinus tumor of pineal region" RELATED [NCIT:C6752] -synonym: "endodermal sinus tumor of the pineal region" RELATED [NCIT:C6752] +synonym: "endodermal sinus tumor of pineal region" RELATED [] +synonym: "endodermal sinus tumor of the pineal region" RELATED [] synonym: "endodermal sinus tumour of pineal region" RELATED OMO:0003005 [] synonym: "endodermal sinus tumour of the pineal region" RELATED OMO:0003005 [] synonym: "pineal body yolk sac tumor" EXACT [MONDO:patterns/location] synonym: "pineal body yolk sac tumour" EXACT OMO:0003005 [] -synonym: "pineal endodermal sinus neoplasm" RELATED [NCIT:C6752] -synonym: "pineal endodermal sinus tumor" RELATED [NCIT:C6752] +synonym: "pineal endodermal sinus neoplasm" RELATED [] +synonym: "pineal endodermal sinus tumor" RELATED [] synonym: "pineal endodermal sinus tumour" RELATED OMO:0003005 [] -synonym: "pineal region endodermal sinus neoplasm" RELATED [NCIT:C6752] -synonym: "pineal region endodermal sinus tumor" RELATED [NCIT:C6752] +synonym: "pineal region endodermal sinus neoplasm" RELATED [] +synonym: "pineal region endodermal sinus tumor" RELATED [] synonym: "pineal region endodermal sinus tumour" RELATED OMO:0003005 [] synonym: "pineal region yolk Sac neoplasm" EXACT [DOID:5341, NCIT:C6752] -synonym: "pineal region yolk sac tumor" EXACT [NCIT:C6752] -synonym: "yolk Sac tumor of pineal region" RELATED [NCIT:C6752] -synonym: "yolk Sac tumor of the pineal region" RELATED [NCIT:C6752] +synonym: "pineal region yolk sac tumor" EXACT [DOID:5341, NCIT:C6752] +synonym: "yolk Sac tumor of pineal region" RELATED [] +synonym: "yolk Sac tumor of the pineal region" RELATED [] synonym: "yolk Sac tumour of pineal region" RELATED OMO:0003005 [] synonym: "yolk Sac tumour of the pineal region" RELATED OMO:0003005 [] xref: DOID:5341 {source="MONDO:equivalentTo"} @@ -61984,15 +61986,15 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "childhood endodermal sinus neoplasm" EXACT [DOID:5342, NCIT:C27364] -synonym: "childhood endodermal sinus tumor" EXACT [NCIT:C27364] -synonym: "childhood yolk Sac neoplasm" RELATED [NCIT:C27364] -synonym: "childhood yolk Sac tumor" RELATED [NCIT:C27364] +synonym: "childhood endodermal sinus tumor" EXACT [DOID:5342, NCIT:C27364] +synonym: "childhood yolk Sac neoplasm" RELATED [] +synonym: "childhood yolk Sac tumor" RELATED [] synonym: "childhood yolk Sac tumour" RELATED OMO:0003005 [] synonym: "paediatric endodermal sinus neoplasm" RELATED OMO:0003005 [] synonym: "paediatric yolk Sac neoplasm" RELATED OMO:0003005 [] -synonym: "paediatric yolk Sac tumour" EXACT OMO:0003005 [] -synonym: "pediatric endodermal sinus neoplasm" RELATED [NCIT:C27364] -synonym: "pediatric yolk Sac neoplasm" RELATED [NCIT:C27364] +synonym: "paediatric yolk Sac tumour" EXACT OMO:0003005 [DOID:5342] +synonym: "pediatric endodermal sinus neoplasm" RELATED [] +synonym: "pediatric yolk Sac neoplasm" RELATED [] synonym: "pediatric yolk Sac tumor" EXACT [DOID:5342, NCIT:C27364] xref: DOID:5342 {source="MONDO:equivalentTo"} xref: MEDGEN:234139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62007,24 +62009,24 @@ name: central nervous system endodermal sinus tumor def: "A yolk sac tumor that arises from the central nervous system and occurs during childhood." [NCIT:C6209] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "central nervous system endodermal sinus tumor" EXACT [MONDO:patterns/location] -synonym: "central nervous system yolk Sac tumor" BROAD [NCIT:C6209] +synonym: "central nervous system endodermal sinus tumor" EXACT [DOID:5343, MONDO:patterns/location] +synonym: "central nervous system yolk Sac tumor" BROAD [] synonym: "central nervous system yolk sac tumor" BROAD [MONDO:patterns/location] synonym: "central nervous system yolk Sac tumour" BROAD OMO:0003005 [] synonym: "central nervous system yolk sac tumour" BROAD OMO:0003005 [] synonym: "childhood central nervous system endodermal sinus neoplasm" EXACT [DOID:5343, NCIT:C6209] synonym: "childhood central nervous system endodermal sinus tumor" EXACT [NCIT:C6209] synonym: "childhood central nervous system endodermal sinus tumour" EXACT OMO:0003005 [] -synonym: "childhood central nervous system yolk Sac neoplasm" BROAD [NCIT:C6209] -synonym: "childhood central nervous system yolk Sac tumor" BROAD [NCIT:C6209] +synonym: "childhood central nervous system yolk Sac neoplasm" BROAD [] +synonym: "childhood central nervous system yolk Sac tumor" BROAD [] synonym: "childhood central nervous system yolk Sac tumour" BROAD OMO:0003005 [] synonym: "paediatric central nervous system endodermal sinus neoplasm" EXACT OMO:0003005 [] synonym: "paediatric central nervous system yolk Sac neoplasm" BROAD OMO:0003005 [] synonym: "paediatric central nervous system yolk Sac tumour" BROAD OMO:0003005 [] synonym: "pediatric central nervous system endodermal sinus neoplasm" EXACT [NCIT:C6209] -synonym: "pediatric central nervous system yolk Sac neoplasm" BROAD [NCIT:C6209] -synonym: "pediatric central nervous system yolk Sac tumor" BROAD [DOID:5343, NCIT:C6209] -synonym: "yolk Sac tumor of the CNS" BROAD [DOID:5343, NCIT:C7011] +synonym: "pediatric central nervous system yolk Sac neoplasm" BROAD [] +synonym: "pediatric central nervous system yolk Sac tumor" BROAD [] +synonym: "yolk Sac tumor of the CNS" BROAD [] synonym: "yolk Sac tumour of the CNS" BROAD OMO:0003005 [] xref: DOID:5343 {source="MONDO:equivalentTo"} xref: MEDGEN:234604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62046,27 +62048,27 @@ def: "A non-seminomatous malignant germ cell tumor arising from the testis. It a subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "endodermal sinus neoplasm of testis" RELATED [NCIT:C8000] -synonym: "endodermal sinus neoplasm of the testis" RELATED [NCIT:C8000] -synonym: "endodermal sinus tumor of testis" RELATED [NCIT:C8000] -synonym: "endodermal sinus tumor of the testis" RELATED [NCIT:C8000] +synonym: "endodermal sinus neoplasm of testis" RELATED [] +synonym: "endodermal sinus neoplasm of the testis" RELATED [] +synonym: "endodermal sinus tumor of testis" RELATED [] +synonym: "endodermal sinus tumor of the testis" RELATED [] synonym: "endodermal sinus tumour of testis" RELATED OMO:0003005 [] synonym: "endodermal sinus tumour of the testis" RELATED OMO:0003005 [] synonym: "endodermal-sinus tumor" RELATED [GARD:0000348] synonym: "endodermal-sinus tumour" RELATED OMO:0003005 [] synonym: "Orchidoblastoma" RELATED [GARD:0000348] -synonym: "testicular endodermal sinus neoplasm" RELATED [NCIT:C8000] -synonym: "testicular endodermal sinus tumor" RELATED [NCIT:C8000] +synonym: "testicular endodermal sinus neoplasm" RELATED [] +synonym: "testicular endodermal sinus tumor" RELATED [] synonym: "testicular endodermal sinus tumour" RELATED OMO:0003005 [] synonym: "testicular yolk Sac neoplasm" EXACT [DOID:5344, NCIT:C8000] -synonym: "testicular yolk sac tumor" EXACT [MONDO:0006449, NCIT:C8000] +synonym: "testicular yolk sac tumor" EXACT [DOID:5344, MONDO:0006449, NCIT:C8000] synonym: "testis yolk sac tumor" EXACT [MONDO:patterns/location] synonym: "testis yolk sac tumour" EXACT OMO:0003005 [] -synonym: "yolk Sac neoplasm of testis" RELATED [NCIT:C8000] -synonym: "yolk Sac neoplasm of the testis" RELATED [NCIT:C8000] +synonym: "yolk Sac neoplasm of testis" RELATED [] +synonym: "yolk Sac neoplasm of the testis" RELATED [] synonym: "yolk sac tumor" RELATED [ONCOTREE:TYST] -synonym: "yolk Sac tumor of testis" RELATED [NCIT:C8000] -synonym: "yolk Sac tumor of the testis" RELATED [NCIT:C8000] +synonym: "yolk Sac tumor of testis" RELATED [] +synonym: "yolk Sac tumor of the testis" RELATED [] synonym: "yolk sac tumour" RELATED OMO:0003005 [] synonym: "yolk Sac tumour of testis" RELATED OMO:0003005 [] synonym: "yolk Sac tumour of the testis" RELATED OMO:0003005 [] @@ -62103,11 +62105,11 @@ synonym: "malignant testicular non-seminomatous germ cell tumor" EXACT [NCIT:C50 synonym: "malignant testicular non-seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testicular germ cell tumor non-seminomatous, malignant" EXACT [MONDO:patterns/malignant] synonym: "testicular germ cell tumour non-seminomatous, malignant" EXACT OMO:0003005 [] -synonym: "testicular non-seminomatous germ cell cancer" EXACT [NCIT:C5027] +synonym: "testicular non-seminomatous germ cell cancer" EXACT [DOID:5345, NCIT:C5027] synonym: "testicular non-seminomatous germ cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "testicular non-seminomatous malignant germ cell neoplasm" EXACT [NCIT:C5027] -synonym: "testicular nonseminomat. GCT, NOS" RELATED EXCLUDE [NCIT:C5027] -synonym: "testicular nonseminomatous germ cell tumor, NOS" RELATED EXCLUDE [NCIT:C5027] +synonym: "testicular nonseminomat. GCT, NOS" RELATED EXCLUDE [] +synonym: "testicular nonseminomatous germ cell tumor, NOS" RELATED EXCLUDE [] xref: DOID:5345 {source="MONDO:equivalentTo"} xref: MEDGEN:233162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5027 {source="DOID:5345", source="MONDO:equivalentTo"} @@ -62124,12 +62126,12 @@ def: "A yolk sac tumor that occurs in an adult." [MONDO:design_pattern] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult endodermal sinus neoplasm" EXACT [DOID:5348, NCIT:C27241] -synonym: "adult endodermal sinus tumor" EXACT [NCIT:C27241] +synonym: "adult endodermal sinus tumor" EXACT [DOID:5348, NCIT:C27241] synonym: "adult endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "adult yolk Sac neoplasm" EXACT [DOID:5348, NCIT:C27241] synonym: "adult yolk Sac tumor" EXACT [NCIT:C27241] synonym: "adult yolk Sac tumour" EXACT OMO:0003005 [] -synonym: "yolk Sac tumor" BROAD [NCIT:C27241] +synonym: "yolk Sac tumor" BROAD [] synonym: "yolk sac tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "yolk Sac tumour" BROAD OMO:0003005 [] synonym: "yolk sac tumour of adults" EXACT OMO:0003005 [] @@ -62153,9 +62155,9 @@ synonym: "adult central nervous system germ cell tumor" EXACT [NCIT:C6285] synonym: "adult CNS germ cell neoplasm" EXACT [NCIT:C6285] synonym: "adult CNS germ cell tumor" EXACT [NCIT:C6285] synonym: "adult CNS germ cell tumour" EXACT OMO:0003005 [] -synonym: "central nervous system adult germ cell tumor" RELATED [DOID:5349] +synonym: "central nervous system adult germ cell tumor" RELATED [] synonym: "central nervous system adult germ cell tumour" RELATED OMO:0003005 [] -synonym: "central nervous system germ cell tumor" BROAD [NCIT:C6285] +synonym: "central nervous system germ cell tumor" BROAD [] synonym: "central nervous system germ cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "central nervous system germ cell tumour" BROAD OMO:0003005 [] synonym: "central nervous system germ cell tumour of adults" EXACT OMO:0003005 [] @@ -62170,7 +62172,7 @@ synonym: "germ cell tumor of the adult CNS" EXACT [DOID:5349, NCIT:C6285] synonym: "germ cell tumour of adult central nervous system" EXACT OMO:0003005 [] synonym: "germ cell tumour of adult CNS" EXACT OMO:0003005 [] synonym: "germ cell tumour of the adult central nervous system" EXACT OMO:0003005 [] -synonym: "germ cell tumour of the adult CNS" EXACT OMO:0003005 [] +synonym: "germ cell tumour of the adult CNS" EXACT OMO:0003005 [DOID:5349] xref: DOID:5349 {source="MONDO:equivalentTo"} xref: MEDGEN:128893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6285 {source="MONDO:equivalentTo", source="DOID:5349"} @@ -62196,7 +62198,7 @@ synonym: "long sleeper syndrome" RELATED [MESH:D012893] synonym: "long sleeper syndromes" RELATED [MESH:D012893] synonym: "neurogenic tachypnea, sleep-related" RELATED [MESH:D012893] synonym: "neurogenic Tachypneas, sleep-related" RELATED [MESH:D012893] -synonym: "non-organic sleep disorder" RELATED [DOID:535] +synonym: "non-organic sleep disorder" RELATED [] synonym: "phenotype, short sleep" RELATED [MESH:D012893] synonym: "phenotypes, short sleep" RELATED [MESH:D012893] synonym: "short sleep phenotype" RELATED [MESH:D012893] @@ -62253,7 +62255,7 @@ def: "A malignant tumor that arises from the ovary and is characterized by the p subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ovarian primitive germ cell tumor" EXACT [NCIT:C39986] +synonym: "ovarian primitive germ cell tumor" EXACT [DOID:5351, NCIT:C39986] xref: DOID:5351 {source="MONDO:equivalentTo"} xref: MEDGEN:275291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39986 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5351"} @@ -62286,9 +62288,9 @@ name: Wolffian duct adenocarcinoma def: "A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells." [NCIT:C40254] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cervical mesonephric adenocarcinoma" EXACT [NCIT:C40254] +synonym: "cervical mesonephric adenocarcinoma" EXACT [DOID:5368, NCIT:C40254] synonym: "mesonephric duct adenocarcinoma" EXACT [MONDO:patterns/location] -synonym: "Wolffian duct adenocarcinoma" EXACT [NCIT:C40254] +synonym: "Wolffian duct adenocarcinoma" EXACT [DOID:5368] xref: DOID:5368 {source="MONDO:equivalentTo"} xref: MEDGEN:273908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40254 {source="DOID:5368", source="MONDO:equivalentTo"} @@ -62303,7 +62305,7 @@ id: MONDO:0003411 name: breast hemangiopericytoma def: "A hemangiopericytoma arising from the breast." [NCIT:P378] comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor -synonym: "breast hemangiopericytoma" EXACT [MONDO:patterns/location] +synonym: "breast hemangiopericytoma" EXACT [DOID:5370, MONDO:patterns/location, NCIT:C40396] synonym: "breast spindle cell tumor" EXACT [MONDO:patterns/location] synonym: "breast spindle cell tumour" EXACT OMO:0003005 [] xref: DOID:5370 {source="MONDO:equivalentTo"} @@ -62334,12 +62336,12 @@ id: MONDO:0003413 name: hair follicle neoplasm def: "A benign or malignant neoplasm arising from the hair follicle." [NCIT:C7367] subset: otar {source="MONDO:OTAR"} -synonym: "hair follicle neoplasm" EXACT [NCIT:C7367] +synonym: "hair follicle neoplasm" EXACT [DOID:5375, NCIT:C7367] synonym: "hair follicle neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hair follicle tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C7367] synonym: "hair follicle tumour" EXACT OMO:0003005 [] -synonym: "hair matrix neoplasm" RELATED [DOID:5375, NCIT:C7367] -synonym: "hair matrix tumor" RELATED [DOID:5375, NCIT:C7367] +synonym: "hair matrix neoplasm" RELATED [] +synonym: "hair matrix tumor" RELATED [] synonym: "hair matrix tumour" RELATED OMO:0003005 [] synonym: "neoplasm of hair follicle" EXACT [MONDO:patterns/neoplasm, NCIT:C7367] synonym: "neoplasm of the hair follicle" EXACT [NCIT:C7367] @@ -62369,12 +62371,12 @@ subset: rare synonym: "calcified epithelial carcinoma of Malherbe" EXACT [Orphanet:499182] synonym: "calcifying epitheliocarcinoma" EXACT [Orphanet:499182] synonym: "invasive pilomatrixoma" EXACT [NCIT:C4114] -synonym: "malignant pilomatricoma" EXACT [DOID:5376, NCIT:C4114, Orphanet:499182] +synonym: "malignant pilomatricoma" EXACT [DOID:5376, Orphanet:499182] synonym: "matrical carcinoma" EXACT [NCIT:C4114] synonym: "Pilomatrical carcinoma" EXACT [NCIT:C4114] synonym: "pilomatricoma, malignant" EXACT [DOID:5376] -synonym: "pilomatrix carcinoma" EXACT [NCIT:C4114] -synonym: "pilomatrix carcinoma of skin" EXACT [DOID:5376, NCIT:C4114] +synonym: "pilomatrix carcinoma" EXACT [NCIT:C4114, Orphanet:499182] +synonym: "pilomatrix carcinoma of skin" EXACT [NCIT:C4114] synonym: "pilomatrix carcinoma of the skin" EXACT [NCIT:C4114] synonym: "pilomatrix skin carcinoma" EXACT [NCIT:C4114] synonym: "Trichomatrical carcinoma" EXACT [Orphanet:499182] @@ -62430,7 +62432,7 @@ id: MONDO:0003419 name: Bartholin gland adenoma def: "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells." [NCIT:P378] synonym: "Bartholin gland adenoma" EXACT [DOID:5382, NCIT:C40299] -synonym: "Bartholin's gland adenoma" EXACT [NCIT:C40299] +synonym: "Bartholin's gland adenoma" EXACT [DOID:5382, NCIT:C40299] synonym: "major vestibular gland adenoma" EXACT [MONDO:patterns/location] xref: DOID:5382 {source="MONDO:equivalentTo"} xref: MEDGEN:267025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62447,8 +62449,8 @@ intersection_of: disease_has_location UBERON:0000460 ! major vestibular gland id: MONDO:0003420 name: bile duct cystadenoma def: "An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid." [NCIT:P378] -synonym: "bile duct cystadenoma" EXACT [MONDO:patterns/location, NCIT:C4129] -synonym: "bile duct cystadenoma (morphologic abnormality)" EXACT [DOID:5384] +synonym: "bile duct cystadenoma" EXACT [DOID:5384, MONDO:patterns/location, NCIT:C4129] +synonym: "bile duct cystadenoma (morphologic abnormality)" EXACT [] synonym: "bile duct mucinous cystic neoplasm" EXACT [NCIT:C4129] synonym: "cystadenoma of bile duct" EXACT [NCIT:C4129] synonym: "cystadenoma of the bile duct" EXACT [DOID:5384, NCIT:C4129] @@ -62467,7 +62469,7 @@ intersection_of: disease_has_location UBERON:0002394 ! bile duct id: MONDO:0003421 name: mixed cell adenoma def: "An adenoma characterized by the presence of a mixed epithelial cell population." [NCIT:C4157] -synonym: "mixed cell adenoma" EXACT [NCIT:C4157] +synonym: "mixed cell adenoma" EXACT [DOID:5385, NCIT:C4157] xref: DOID:5385 {source="MONDO:equivalentTo"} xref: ICDO:8323/0 {source="NCIT:C4157"} xref: MEDGEN:83131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62483,7 +62485,7 @@ name: lung adenoma def: "A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma." [NCIT:C4455] synonym: "adenoma of lung" EXACT [DOID:5386, NCIT:C4455] synonym: "adenoma of the lung" EXACT [NCIT:C4455] -synonym: "lung adenoma" EXACT [MONDO:patterns/location, NCIT:C4455] +synonym: "lung adenoma" EXACT [DOID:5386, MONDO:patterns/location, NCIT:C4455] synonym: "pulmonary adenoma" EXACT [DOID:5386, NCIT:C4455] xref: DOID:5386 {source="MONDO:equivalentTo"} xref: MEDGEN:83394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62501,8 +62503,8 @@ id: MONDO:0003423 name: middle ear adenoma def: "A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss." [NCIT:P378] synonym: "adenoma of middle ear" RELATED [DOID:5387] -synonym: "adenoma of the middle ear" EXACT [DOID:5387, NCIT:C6834] -synonym: "middle ear adenoma" EXACT [MONDO:patterns/location] +synonym: "adenoma of the middle ear" EXACT [DOID:5387] +synonym: "middle ear adenoma" EXACT [DOID:5387, MONDO:patterns/location, NCIT:C6834] xref: DOID:5387 {source="MONDO:equivalentTo"} xref: MEDGEN:277370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6834 {source="DOID:5387", source="MONDO:equivalentTo"} @@ -62523,8 +62525,8 @@ def: "A benign neoplasm composed of large cells with abundant eosinophilic granu subset: otar {source="MONDO:OTAR"} synonym: "follicular adenoma, oxyphilic cell" EXACT [DOID:5389] synonym: "oncocytic adenoma" EXACT [NCIT:C3759] -synonym: "oncocytoma" EXACT [DOID:5389, NCIT:C3759] -synonym: "oxyphilic adenoma" EXACT [NCIT:C3759] +synonym: "oncocytoma" EXACT [DOID:5389] +synonym: "oxyphilic adenoma" EXACT [DOID:5389, NCIT:C3759] xref: DOID:5389 {source="MONDO:equivalentTo"} xref: EFO:1001079 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8290/0 {source="NCIT:C3759"} @@ -62543,7 +62545,7 @@ relationship: excluded_subClassOf MONDO:0000627 {source="DOID:5389", source="htt id: MONDO:0003425 name: ophthalmoplegia def: "Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis." [NCIT:P378] -synonym: "oculomotor paralysis" RELATED [DOID:539] +synonym: "oculomotor paralysis" RELATED [] synonym: "total ophthalmoplegia" EXACT [DOID:539] xref: DOID:539 {source="MONDO:equivalentTo"} xref: icd11.foundation:1848588735 {source="MONDO:equivalentTo"} @@ -62564,8 +62566,8 @@ id: MONDO:0003426 name: clear cell adenoma def: "A benign neoplasm composed of glands containing epithelial clear cells." [NCIT:C4151] synonym: "adenoma, clear cell, benign" EXACT [NCIT:C4151] -synonym: "clear cell adenoma" EXACT [NCIT:C4151] -synonym: "clear cell adenoma (morphologic abnormality)" EXACT [DOID:5390] +synonym: "clear cell adenoma" EXACT [DOID:5390, NCIT:C4151] +synonym: "clear cell adenoma (morphologic abnormality)" EXACT [] xref: DOID:5390 {source="MONDO:equivalentTo"} xref: ICDO:8310/0 {source="NCIT:C4151"} xref: MEDGEN:90761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62579,12 +62581,12 @@ id: MONDO:0003427 name: bronchus adenoma def: "A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative." [NCIT:C3494] synonym: "adenoma of bronchus" EXACT [NCIT:C3494] -synonym: "adenoma of the bronchus" EXACT [DOID:5391, NCIT:C3494] +synonym: "adenoma of the bronchus" EXACT [NCIT:C3494] synonym: "adenoma, bronchial, benign" EXACT [NCIT:C3494] synonym: "bronchial adenoma" EXACT [DOID:5391, NCIT:C3494] -synonym: "bronchial adenoma NOS (morphologic abnormality)" EXACT [DOID:5391] -synonym: "bronchial adenoma, NOS" RELATED EXCLUDE [DOID:5391] -synonym: "bronchus adenoma" EXACT [MONDO:patterns/location] +synonym: "bronchial adenoma NOS (morphologic abnormality)" EXACT [] +synonym: "bronchial adenoma, NOS" RELATED EXCLUDE [] +synonym: "bronchus adenoma" EXACT [DOID:5391, MONDO:patterns/location] synonym: "lung papillary adenoma" EXACT [NCIT:C3494] synonym: "papillary adenoma of type II pneumocytes" EXACT [NCIT:C3494] synonym: "peripheral papillary tumor of type II pneumocytes" EXACT [NCIT:C3494] @@ -62607,7 +62609,7 @@ intersection_of: disease_has_location UBERON:0002185 ! bronchus id: MONDO:0003428 name: brain hemangioma def: "A hemangioma arising from the brain." [NCIT:C7739] -synonym: "brain angioma" EXACT [NCIT:C7739] +synonym: "brain angioma" EXACT [DOID:5393, NCIT:C7739] synonym: "brain hemangioma" EXACT [NCIT:C7739] xref: DOID:5393 {source="MONDO:equivalentTo"} xref: MEDGEN:116075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62629,9 +62631,9 @@ synonym: "functioning adenoma of pituitary" EXACT [NCIT:C8388] synonym: "functioning adenoma of pituitary gland" EXACT [NCIT:C8388] synonym: "functioning adenoma of the pituitary" EXACT [NCIT:C8388] synonym: "functioning adenoma of the pituitary gland" EXACT [NCIT:C8388] -synonym: "functioning pituitary adenoma" EXACT [MONDO:0017821, NCIT:C8388] +synonym: "functioning pituitary adenoma" EXACT [DOID:5395, MONDO:0017821, NCIT:C8388, Orphanet:314753] synonym: "functioning pituitary gland adenoma" EXACT [NCIT:C8388] -synonym: "functioning pituitary gland adenoma (benign)" EXACT [NCIT:C8388] +synonym: "functioning pituitary gland adenoma (benign)" EXACT [] synonym: "secreting pituitary adenoma" EXACT [Orphanet:314753] synonym: "secretory adenoma of pituitary" EXACT [NCIT:C8388] synonym: "secretory adenoma of pituitary gland" EXACT [NCIT:C8388] @@ -62659,47 +62661,47 @@ def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that p subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "malignant prolactin producing neoplasm of pituitary gland" NARROW [DOID:5396] -synonym: "malignant prolactinoma" NARROW [DOID:5396, NCIT:C5962] -synonym: "PRL producing pituitary gland neoplasm" EXACT [NCIT:C7910] -synonym: "prolactin producing neoplasm of pituitary" EXACT [NCIT:C7910] -synonym: "prolactin producing neoplasm of pituitary gland" EXACT [NCIT:C7910] -synonym: "prolactin producing neoplasm of the pituitary" EXACT [NCIT:C7910] -synonym: "prolactin producing neoplasm of the pituitary gland" EXACT [NCIT:C7910] -synonym: "prolactin producing pituitary gland neoplasm" EXACT [NCIT:C7910] -synonym: "prolactin producing pituitary gland tumor" EXACT [NCIT:C7910] +synonym: "malignant prolactin producing neoplasm of pituitary gland" NARROW [] +synonym: "malignant prolactinoma" NARROW [] +synonym: "PRL producing pituitary gland neoplasm" EXACT [] +synonym: "prolactin producing neoplasm of pituitary" EXACT [] +synonym: "prolactin producing neoplasm of pituitary gland" EXACT [] +synonym: "prolactin producing neoplasm of the pituitary" EXACT [] +synonym: "prolactin producing neoplasm of the pituitary gland" EXACT [] +synonym: "prolactin producing pituitary gland neoplasm" EXACT [] +synonym: "prolactin producing pituitary gland tumor" EXACT [] synonym: "prolactin producing pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "prolactin producing pituitary neoplasm" EXACT [NCIT:C7910] -synonym: "prolactin producing pituitary tumor" EXACT [NCIT:C7910] -synonym: "prolactin producing tumor of pituitary" EXACT [NCIT:C7910] -synonym: "prolactin producing tumor of pituitary gland" EXACT [NCIT:C7910] -synonym: "prolactin producing tumor of the pituitary" EXACT [NCIT:C7910] -synonym: "prolactin producing tumor of the pituitary gland" EXACT [NCIT:C7910] +synonym: "prolactin producing pituitary neoplasm" EXACT [] +synonym: "prolactin producing pituitary tumor" EXACT [DOID:5396] +synonym: "prolactin producing tumor of pituitary" EXACT [] +synonym: "prolactin producing tumor of pituitary gland" EXACT [] +synonym: "prolactin producing tumor of the pituitary" EXACT [] +synonym: "prolactin producing tumor of the pituitary gland" EXACT [] synonym: "prolactin producing tumour of pituitary" EXACT OMO:0003005 [] synonym: "prolactin producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "prolactin producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "prolactin producing tumour of the pituitary gland" EXACT OMO:0003005 [] -synonym: "prolactin secreting neoplasm of pituitary" EXACT [NCIT:C7910] -synonym: "prolactin secreting neoplasm of pituitary gland" EXACT [NCIT:C7910] -synonym: "prolactin secreting neoplasm of the pituitary" EXACT [NCIT:C7910] -synonym: "prolactin secreting neoplasm of the pituitary gland" EXACT [NCIT:C7910] -synonym: "prolactin secreting pituitary gland neoplasm" EXACT [NCIT:C7910] -synonym: "prolactin secreting pituitary gland tumor" EXACT [NCIT:C7910] +synonym: "prolactin secreting neoplasm of pituitary" EXACT [] +synonym: "prolactin secreting neoplasm of pituitary gland" EXACT [] +synonym: "prolactin secreting neoplasm of the pituitary" EXACT [] +synonym: "prolactin secreting neoplasm of the pituitary gland" EXACT [] +synonym: "prolactin secreting pituitary gland neoplasm" EXACT [] +synonym: "prolactin secreting pituitary gland tumor" EXACT [] synonym: "prolactin secreting pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "prolactin secreting pituitary neoplasm" EXACT [NCIT:C7910] -synonym: "prolactin secreting pituitary tumor" EXACT [NCIT:C7910] +synonym: "prolactin secreting pituitary neoplasm" EXACT [] +synonym: "prolactin secreting pituitary tumor" EXACT [] synonym: "prolactin secreting pituitary tumour" EXACT OMO:0003005 [] -synonym: "prolactin secreting tumor of pituitary" EXACT [DOID:5396, NCIT:C7910] -synonym: "prolactin secreting tumor of pituitary gland" EXACT [NCIT:C7910] -synonym: "prolactin secreting tumor of the pituitary" EXACT [NCIT:C7910] -synonym: "prolactin secreting tumor of the pituitary gland" EXACT [NCIT:C7910] -synonym: "prolactin secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "prolactin secreting tumor of pituitary" EXACT [DOID:5396] +synonym: "prolactin secreting tumor of pituitary gland" EXACT [] +synonym: "prolactin secreting tumor of the pituitary" EXACT [] +synonym: "prolactin secreting tumor of the pituitary gland" EXACT [] +synonym: "prolactin secreting tumour of pituitary" EXACT OMO:0003005 [DOID:5396] synonym: "prolactin secreting tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "prolactin secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "prolactin secreting tumour of the pituitary gland" EXACT OMO:0003005 [] -synonym: "prolactin-producing pituitary gland carcinoma" RELATED EXCLUDE [DOID:5396] -synonym: "prolactin-producing pituitary gland neoplasm" EXACT [NCIT:C7910] -synonym: "prolactin-producing pituitary gland tumor" EXACT [NCIT:C7910] +synonym: "prolactin-producing pituitary gland carcinoma" RELATED EXCLUDE [] +synonym: "prolactin-producing pituitary gland neoplasm" EXACT [] +synonym: "prolactin-producing pituitary gland tumor" EXACT [] synonym: "prolactin-producing pituitary gland tumour" EXACT OMO:0003005 [] xref: DOID:5396 {source="MONDO:equivalentTo"} xref: MEDGEN:82998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62718,8 +62720,8 @@ id: MONDO:0003431 name: lipoadenoma def: "An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells." [NCIT:C4159] synonym: "adenolipoma, benign" EXACT [NCIT:C4159] -synonym: "lipoadenoma" EXACT [NCIT:C4159] -synonym: "lipoadenoma (morphologic abnormality)" EXACT [DOID:5398] +synonym: "lipoadenoma" EXACT [DOID:5398, NCIT:C4159] +synonym: "lipoadenoma (morphologic abnormality)" EXACT [] xref: DOID:5398 {source="MONDO:equivalentTo"} xref: ICDO:8324/0 {source="NCIT:C4159"} xref: MEDGEN:83133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62735,7 +62737,7 @@ id: MONDO:0003432 name: strabismus def: "Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected." [NCIT:P378] synonym: "squint" EXACT [NCIT:C35040] -synonym: "strabismus" EXACT [NCIT:C35040] +synonym: "strabismus" EXACT [DOID:540, NCIT:C35040] xref: DOID:540 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.8 {source="DOID:540"} xref: ICD10CM:H50.89 {source="DOID:540"} @@ -62757,7 +62759,7 @@ id: MONDO:0003433 name: water-clear cell adenoma def: "A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular." [NCIT:P378] synonym: "parathyroid gland water-clear cell adenoma" EXACT [NCIT:C4155] -synonym: "water-clear cell adenoma (morphologic abnormality)" EXACT [DOID:5401] +synonym: "water-clear cell adenoma (morphologic abnormality)" EXACT [] xref: DOID:5401 {source="MONDO:equivalentTo"} xref: ICDO:8322/0 {source="NCIT:C4155"} xref: MEDGEN:83129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62771,7 +62773,7 @@ id: MONDO:0003434 name: vaginal adenoma def: "A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation." [NCIT:C40256] synonym: "vagina adenoma" EXACT [MONDO:patterns/location] -synonym: "vaginal adenoma" EXACT [NCIT:C40256] +synonym: "vaginal adenoma" EXACT [DOID:5402, NCIT:C40256] xref: DOID:5402 {source="MONDO:equivalentTo"} xref: MEDGEN:274377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40256 {source="DOID:5402", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -62786,7 +62788,7 @@ id: MONDO:0003435 name: microcystic adenoma def: "A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia." [NCIT:C3685] synonym: "microcystic adenoma" EXACT [DOID:5403, NCIT:C3685] -synonym: "microcystic adenoma (morphologic abnormality)" EXACT [DOID:5403] +synonym: "microcystic adenoma (morphologic abnormality)" EXACT [] xref: DOID:5403 {source="MONDO:equivalentTo"} xref: ICDO:8202/0 {source="NCIT:C3685"} xref: MEDGEN:64420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62811,8 +62813,8 @@ name: occult small cell lung carcinoma def: "A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." [NCIT:C6683] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "lung occult small cell carcinoma" RELATED [DOID:5414] -synonym: "occult small cell carcinoma of lung" EXACT [DOID:5414, NCIT:C6683] +synonym: "lung occult small cell carcinoma" RELATED [] +synonym: "occult small cell carcinoma of lung" EXACT [NCIT:C6683] synonym: "occult small cell carcinoma of the lung" EXACT [DOID:5414, NCIT:C6683] synonym: "occult small cell lung carcinoma" EXACT [NCIT:C6683] xref: DOID:5414 {source="MONDO:equivalentTo"} @@ -62835,11 +62837,11 @@ synonym: "combined small cell carcinoma of lung" EXACT [NCIT:C9137] synonym: "combined small cell carcinoma of the lung" EXACT [DOID:5421, NCIT:C9137] synonym: "combined small cell lung cancer" EXACT [NCIT:C9137] synonym: "combined small cell lung carcinoma" EXACT [NCIT:C9137] -synonym: "combined type small cell carcinoma of lung" EXACT [DOID:5421, NCIT:C9137] +synonym: "combined type small cell carcinoma of lung" EXACT [NCIT:C9137] synonym: "combined type small cell carcinoma of the lung" EXACT [NCIT:C9137] synonym: "combined type small cell lung carcinoma" EXACT [NCIT:C9137] synonym: "CSCLC" RELATED ABBREVIATION [ONCOTREE:CSCLC] -synonym: "lung combined type small cell carcinoma" RELATED [DOID:5421] +synonym: "lung combined type small cell carcinoma" RELATED [] synonym: "mixed small cell and large cell carcinoma of lung" EXACT [NCIT:C9137] synonym: "mixed small cell and large cell carcinoma of the lung" EXACT [NCIT:C9137] synonym: "mixed small cell and large cell lung carcinoma" EXACT [NCIT:C9137] @@ -62862,7 +62864,7 @@ id: MONDO:0003439 name: urinary bladder villous adenoma def: "An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma." [NCIT:P378] synonym: "bladder villous adenoma" EXACT [NCIT:C7414] -synonym: "urinary bladder villous adenoma" EXACT [MONDO:patterns/location, NCIT:C7414] +synonym: "urinary bladder villous adenoma" EXACT [DOID:5427, MONDO:patterns/location, NCIT:C7414] synonym: "villous adenoma of the urinary bladder" EXACT [NCIT:C7414] synonym: "villous adenoma of urinary bladder" EXACT [DOID:5427, NCIT:C7414] xref: DOID:5427 {source="MONDO:equivalentTo"} @@ -62885,7 +62887,7 @@ id: MONDO:0003441 name: dystonic disorder def: "A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures." [NCIT:C34563] subset: otar {source="MONDO:OTAR"} -synonym: "dystonia" EXACT [MONDO:ambiguous] +synonym: "dystonia" EXACT [DOID:543, ICD10CM:G24, MONDO:ambiguous, NCIT:C34563] synonym: "dystonia disorder" RELATED [MESH:D020821] synonym: "dystonia disorders" RELATED [MESH:D020821] synonym: "dystonic disease" EXACT [DOID:543] @@ -62912,10 +62914,10 @@ relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql id: MONDO:0003442 name: bladder papillary urothelial neoplasm def: "A papillary epithelial neoplasm that involves the urinary bladder urothelium." [MONDO:patterns/location] -synonym: "bladder papillary transitional cell neoplasm" EXACT [NCIT:C39857] +synonym: "bladder papillary transitional cell neoplasm" EXACT [DOID:5432, NCIT:C39857] synonym: "bladder papillary urothelial neoplasm" EXACT [NCIT:C39857] synonym: "urinary bladder papillary transitional cell neoplasm" EXACT [NCIT:C39857] -synonym: "urinary bladder papillary urothelial neoplasm" EXACT [NCIT:C39857] +synonym: "urinary bladder papillary urothelial neoplasm" EXACT [DOID:5432, NCIT:C39857] synonym: "urinary bladder urothelium papillary epithelial neoplasm" EXACT [MONDO:patterns/location] xref: DOID:5432 {source="MONDO:equivalentTo"} xref: MEDGEN:267741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -62932,11 +62934,11 @@ id: MONDO:0003443 name: papillary urothelial neoplasm def: "A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003" [NCIT:C27883] subset: otar {source="MONDO:OTAR"} -synonym: "inverted papilloma of urinary tract" RELATED [DOID:5433, NCIT:C6192] +synonym: "inverted papilloma of urinary tract" RELATED [] synonym: "papillary transitional cell neoplasm of the urinary tract" EXACT [DOID:5433, NCIT:C27883] synonym: "papillary urothelial neoplasm" EXACT [NCIT:C27883] -synonym: "urinary tract inverted papilloma" RELATED EXCLUDE [DOID:5433] -synonym: "urinary tract papillary transitional cell benign neoplasm" RELATED [DOID:5433] +synonym: "urinary tract inverted papilloma" RELATED EXCLUDE [] +synonym: "urinary tract papillary transitional cell benign neoplasm" RELATED [] synonym: "urinary tract papillary transitional cell neoplasm" EXACT [NCIT:C27883] synonym: "urothelium papillary epithelial neoplasm" EXACT [MONDO:patterns/location] xref: DOID:5433 {source="MONDO:equivalentTo"} @@ -62958,7 +62960,7 @@ def: "A rare adenoma that arises from the intrahepatic biliary tree." [NCIT:P378 synonym: "adenoma of intrahepatic bile duct" RELATED [DOID:5437] synonym: "adenoma of the intrahepatic bile duct" EXACT [DOID:5437, NCIT:C7126] synonym: "adenoma, HEPATOCHOLANGIOCELLULAR, benign" EXACT [NCIT:C7126] -synonym: "intrahepatic bile duct adenoma" EXACT [MONDO:patterns/location] +synonym: "intrahepatic bile duct adenoma" EXACT [DOID:5437, MONDO:patterns/location, NCIT:C7126] xref: DOID:5437 {source="MONDO:equivalentTo"} xref: MEDGEN:272250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7126 {source="MONDO:equivalentTo", source="DOID:5437"} @@ -62971,9 +62973,9 @@ intersection_of: disease_has_location UBERON:0003704 ! intrahepatic bile duct id: MONDO:0003445 name: extrahepatic bile duct adenoma def: "An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary." [NCIT:C5857] -synonym: "adenoma of extrahepatic bile duct" EXACT [DOID:5438, NCIT:C5857] +synonym: "adenoma of extrahepatic bile duct" EXACT [NCIT:C5857] synonym: "adenoma of the extrahepatic bile duct" EXACT [DOID:5438, NCIT:C5857] -synonym: "extrahepatic bile duct adenoma" EXACT [MONDO:patterns/location, NCIT:C5857] +synonym: "extrahepatic bile duct adenoma" EXACT [DOID:5438, MONDO:patterns/location, NCIT:C5857] xref: DOID:5438 {source="MONDO:equivalentTo"} xref: MEDGEN:233098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5857 {source="DOID:5438", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -63004,7 +63006,7 @@ id: MONDO:0003447 name: clear cell hidradenoma def: "An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells." [NCIT:C7567] synonym: "clear cell hidradenoma" EXACT [DOID:5443, NCIT:C7567] -synonym: "clear cell hidradenoma (morphologic abnormality)" EXACT [DOID:5443] +synonym: "clear cell hidradenoma (morphologic abnormality)" EXACT [] synonym: "clear cell myoepithelioma" EXACT [DOID:5443] xref: DOID:5443 {source="MONDO:equivalentTo"} xref: MEDGEN:234584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -63022,11 +63024,11 @@ name: benign spiradenoma def: "A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported." [NCIT:C4170] comment: Spiradenomas are usually benign. Malignant forms are rare. subset: otar {source="MONDO:OTAR"} -synonym: "benign eccrine spiradenoma" NARROW [DOID:5444, NCIT:C4170] -synonym: "eccrine spiradenoma" NARROW [NCIT:C4170] -synonym: "eccrine spiradenoma (morphologic abnormality)" NARROW [DOID:5444] -synonym: "eccrine spiradenoma of skin" NARROW [DOID:5444] -synonym: "spiradenoma" EXACT [NCIT:C4170] +synonym: "benign eccrine spiradenoma" NARROW [] +synonym: "eccrine spiradenoma" NARROW [] +synonym: "eccrine spiradenoma (morphologic abnormality)" NARROW [] +synonym: "eccrine spiradenoma of skin" NARROW [] +synonym: "spiradenoma" EXACT [DOID:5444, NCIT:C4170] synonym: "spiroma/spiradenoma" RELATED [ONCOTREE:SPIR] xref: DOID:5444 {source="MONDO:equivalentTo"} xref: ICDO:8403/0 {source="NCIT:C4170"} @@ -63051,7 +63053,7 @@ id: MONDO:0003450 name: eccrine papillary adenoma def: "A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections." [NCIT:P378] synonym: "eccrine papillary adenoma of skin" EXACT [DOID:5446] -synonym: "Papillary eccrine adenoma" EXACT [NCIT:C4173] +synonym: "Papillary eccrine adenoma" EXACT [DOID:5446] xref: DOID:5446 {source="MONDO:equivalentTo"} xref: ICDO:8408/0 {source="NCIT:C4173"} xref: MEDGEN:137747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -63117,7 +63119,7 @@ def: "A malignant neoplasm involving the conjunctiva." [https://orcid.org/0000-0 subset: otar {source="MONDO:OTAR"} synonym: "cancer of conjunctiva" BROAD [MONDO:patterns/cancer] synonym: "conjunctiva cancer" EXACT [MONDO:patterns/location] -synonym: "conjunctival tumor" BROAD [DOID:5467, NCIT:C2961] +synonym: "conjunctival tumor" BROAD [] synonym: "conjunctival tumour" BROAD OMO:0003005 [] synonym: "malignant conjunctiva neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3564] synonym: "malignant conjunctiva tumor" EXACT [NCIT:C3564] @@ -63126,13 +63128,13 @@ synonym: "malignant conjunctival neoplasm" EXACT [NCIT:C3564] synonym: "malignant conjunctival tumor" EXACT [DOID:5467, NCIT:C3564] synonym: "malignant conjunctival tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of conjunctiva" EXACT [DOID:5467, MONDO:patterns/cancer, NCIT:C3564] -synonym: "malignant neoplasm of conjunctiva (primary)" EXACT [DOID:5467] +synonym: "malignant neoplasm of conjunctiva (primary)" EXACT [] synonym: "malignant neoplasm of the conjunctiva" EXACT [NCIT:C3564] -synonym: "malignant tumor of conjunctiva" EXACT [NCIT:C3564] +synonym: "malignant tumor of conjunctiva" EXACT [DOID:5467, NCIT:C3564] synonym: "malignant tumor of the conjunctiva" EXACT [NCIT:C3564] synonym: "malignant tumour of conjunctiva" EXACT OMO:0003005 [] synonym: "malignant tumour of the conjunctiva" EXACT OMO:0003005 [] -synonym: "neoplasm of conjunctiva" BROAD EXCLUDE [DOID:5467] +synonym: "neoplasm of conjunctiva" BROAD EXCLUDE [] xref: DOID:5467 {source="MONDO:equivalentTo"} xref: ICD10CM:C69.0 {source="DOID:5467"} xref: ICD9:190.3 {source="DOID:5467", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -63155,11 +63157,11 @@ name: bile duct papillary neoplasm def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "bile duct papillary epithelial neoplasm" EXACT [MONDO:patterns/location] -synonym: "bile duct papillary neoplasm" EXACT [NCIT:C6881] -synonym: "bile duct papillomatosis" EXACT [NCIT:C6881] +synonym: "bile duct papillary neoplasm" EXACT [] +synonym: "bile duct papillomatosis" EXACT [DOID:5468, NCIT:C6881] synonym: "biliary papillomatosis" EXACT [DOID:5468, NCIT:C6881] -synonym: "intraductal papillary neoplasm" EXACT [NCIT:C6881] -synonym: "IPN" EXACT ABBREVIATION [NCIT:C6881] +synonym: "intraductal papillary neoplasm" EXACT [] +synonym: "IPN" EXACT ABBREVIATION [] xref: DOID:5468 {source="MONDO:equivalentTo"} xref: ICDO:8503/0 {source="NCIT:C6881"} xref: MEDGEN:360303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -63228,7 +63230,7 @@ id: MONDO:0003460 name: clear cell adenofibroma def: "A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma." [NCIT:C8987] synonym: "clear cell adenofibroma" EXACT [DOID:5477, NCIT:C8987] -synonym: "clear cell adenofibroma (morphologic abnormality)" EXACT [DOID:5477] +synonym: "clear cell adenofibroma (morphologic abnormality)" EXACT [] xref: DOID:5477 {source="MONDO:equivalentTo"} xref: ICDO:8313/0 {source="NCIT:C8987"} xref: MEDGEN:90762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -63246,7 +63248,7 @@ name: fallopian tube serous adenofibroma def: "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium." [NCIT:C40113] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "fallopian tube adenofibroma" EXACT [MONDO:patterns/location, NCIT:C40113] +synonym: "fallopian tube adenofibroma" EXACT [DOID:5478, MONDO:patterns/location, NCIT:C40113] synonym: "fallopian tube serous adenofibroma" EXACT [MONDO:patterns/location, NCIT:C40113] synonym: "serous adenofibroma of fallopian tube" EXACT [MONDO:design_pattern] xref: DOID:5478 {source="MONDO:equivalentTo"} @@ -63263,7 +63265,7 @@ intersection_of: disease_has_location UBERON:0003889 ! fallopian tube id: MONDO:0003462 name: papillary adenofibroma def: "A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma." [NCIT:C8986] -synonym: "papillary adenofibroma" EXACT [DOID:5479] +synonym: "papillary adenofibroma" EXACT [DOID:5479, NCIT:C8986] xref: DOID:5479 {source="MONDO:equivalentTo"} xref: MEDGEN:237177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8986 {source="DOID:5479", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -63275,7 +63277,7 @@ is_a: MONDO:0006071 {source="DOID:5479", source="NCIT:C8986"} ! adenofibroma id: MONDO:0003463 name: ovarian endometrioid adenofibroma def: "A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma." [NCIT:C27287] -synonym: "ovarian endometrioid adenofibroma" EXACT [NCIT:C27287] +synonym: "ovarian endometrioid adenofibroma" EXACT [DOID:5480, NCIT:C27287] xref: DOID:5480 {source="MONDO:equivalentTo"} xref: ICDO:8380/0 {source="NCIT:C27287"} xref: ICDO:8381/0 {source="NCIT:C27287"} @@ -63288,8 +63290,8 @@ is_a: MONDO:0000646 {source="DOID:5480", source="NCIT:C27287/inferred"} ! ovaria id: MONDO:0003464 name: cystadenofibroma def: "A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue." [NCIT:C8985] -synonym: "cystadenofibroma" EXACT [NCIT:C8985] -synonym: "cystadenofibroma, NOS" RELATED EXCLUDE [DOID:5482] +synonym: "cystadenofibroma" EXACT [DOID:5482, NCIT:C8985] +synonym: "cystadenofibroma, NOS" RELATED EXCLUDE [] xref: DOID:5482 {source="MONDO:equivalentTo"} xref: MESH:D062625 {source="MONDO:equivalentTo", source="DOID:5482"} xref: NCIT:C8985 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5482"} @@ -63360,7 +63362,7 @@ subset: rare synonym: "biphasic sarcoma of synovium" EXACT [DOID:5492, NCIT:C4279] synonym: "biphasic sarcoma of the synovium" EXACT [NCIT:C4279] synonym: "synovial sarcoma, biphasic" EXACT [DOID:5492] -synonym: "synovial sarcoma, biphasic (morphologic abnormality)" EXACT [DOID:5492] +synonym: "synovial sarcoma, biphasic (morphologic abnormality)" EXACT [] xref: DOID:5492 {source="MONDO:equivalentTo"} xref: ICDO:9043/3 {source="NCIT:C4279"} xref: MEDGEN:137773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -63381,8 +63383,8 @@ synonym: "epithelial synovial sarcoma" EXACT [NCIT:C4278] synonym: "epithelioid cell sarcoma of synovium" EXACT [NCIT:C4278] synonym: "epithelioid cell sarcoma of the synovium" EXACT [NCIT:C4278] synonym: "epithelioid synovial sarcoma" EXACT [DOID:5494, NCIT:C4278] -synonym: "synovial sarcoma, epithelioid cell" EXACT [DOID:5494] -synonym: "synovial sarcoma, epithelioid cell (morphologic abnormality)" EXACT [DOID:5494] +synonym: "synovial sarcoma, epithelioid cell" EXACT [DOID:5494, NCIT:C4278] +synonym: "synovial sarcoma, epithelioid cell (morphologic abnormality)" EXACT [] xref: DOID:5494 {source="MONDO:equivalentTo"} xref: ICDO:9042/3 {source="NCIT:C4278"} xref: MEDGEN:90796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -63417,7 +63419,7 @@ synonym: "head louse infestation" EXACT [DOID:5501] synonym: "infections, Pediculus humanus capitis" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "pediculosis capitis" EXACT [DOID:5501] synonym: "Pediculus capitis" EXACT [DOID:5501] -synonym: "Pediculus capitis [head louse]" EXACT [DOID:5501, ICD9CM:132.0] +synonym: "Pediculus capitis [head louse]" EXACT [ICD9CM:132.0] synonym: "Pediculus capitis infestation" EXACT [DOID:5501] synonym: "Pediculus humanus capitis infection" EXACT [MONDO:patterns/infectious_disease_by_agent] xref: DOID:5501 {source="MONDO:equivalentTo"} @@ -63439,18 +63441,18 @@ def: "A contagious infestation of parasitic insects found on the head (Pediculus subset: otar {source="MONDO:OTAR"} synonym: "infections, Pediculus humanus" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "infestation by Pediculus" EXACT [DOID:5502] -synonym: "lice infestation, NOS" RELATED EXCLUDE [DOID:5502] +synonym: "lice infestation, NOS" RELATED EXCLUDE [] synonym: "louse infestation" EXACT [DOID:5502] -synonym: "louse infestation (& [pediculosis and Phthirus] or [lice])" EXACT [DOID:5502] +synonym: "louse infestation (& [pediculosis and Phthirus] or [lice])" EXACT [] synonym: "mixed pediculosis" EXACT [DOID:5502] synonym: "mixed pediculosis infestation" EXACT [DOID:5502, ICD9CM:132.3] -synonym: "pediculosis" EXACT [DOID:5502] +synonym: "pediculosis" EXACT [DOID:5502, NCIT:C128401] synonym: "pediculosis + lice" EXACT [DOID:5502] -synonym: "pediculosis + lice NOS" RELATED EXCLUDE [DOID:5502] +synonym: "pediculosis + lice NOS" RELATED EXCLUDE [] synonym: "pediculosis and Phthirus infection" EXACT [DOID:5502] synonym: "pediculosis and Phthirus infections" EXACT [DOID:5502] synonym: "pediculosis and Phthirus infestation" EXACT [DOID:5502, ICD9CM:132] -synonym: "pediculosis, unspecified" EXACT [DOID:5502, ICD9CM:132.9] +synonym: "pediculosis, unspecified" EXACT [ICD10CM:B85.2, ICD9CM:132.9] synonym: "Pediculus humanus infection" EXACT [MONDO:patterns/infectious_disease_by_agent] xref: DOID:5502 {source="MONDO:equivalentTo"} xref: ICD10CM:B85.2 {source="DOID:5502", source="MONDO:equivalentTo"} @@ -63480,10 +63482,10 @@ def: "An ependymoma that arises from the spinal cord." [NCIT:C3875] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ependymal neoplasm of the spinal cord" EXACT [DOID:5503, NCIT:C3875] +synonym: "ependymal neoplasm of the spinal cord" EXACT [DOID:5503] synonym: "ependymoma of spinal cord" EXACT [NCIT:C3875] synonym: "ependymoma of the spinal cord" EXACT [NCIT:C3875] -synonym: "spinal cord ependymoma" EXACT [MONDO:patterns/location, NCIT:C3875] +synonym: "spinal cord ependymoma" EXACT [DOID:5503, MONDO:patterns/location, NCIT:C3875] xref: DOID:5503 {source="MONDO:equivalentTo"} xref: MEDGEN:65968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3875 {source="MONDO:equivalentTo", source="DOID:5503"} @@ -63501,7 +63503,7 @@ name: tanycytic ependymoma def: "A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)" [NCIT:C6903] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "tanycytic ependymoma" EXACT [NCIT:C6903] +synonym: "tanycytic ependymoma" EXACT [DOID:5504, NCIT:C6903] xref: DOID:5504 {source="MONDO:equivalentTo"} xref: MEDGEN:237159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6903 {source="DOID:5504", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -63516,7 +63518,7 @@ name: papillary ependymoma def: "A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)" [NCIT:C4319] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "papillary ependymoma" EXACT [NCIT:C4319] +synonym: "papillary ependymoma" EXACT [DOID:5505, NCIT:C4319] xref: DOID:5505 {source="MONDO:equivalentTo"} xref: ICDO:9393/3 {source="NCIT:C4319"} xref: MEDGEN:90810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -63533,7 +63535,7 @@ name: clear cell ependymoma def: "An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo." [NCIT:C4714] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "clear cell ependymoma" EXACT [NCIT:C4714] +synonym: "clear cell ependymoma" EXACT [DOID:5507, NCIT:C4714] xref: DOID:5507 {source="MONDO:equivalentTo"} xref: MEDGEN:1852795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4714 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -63548,12 +63550,12 @@ name: brain stem ependymoma def: "An ependymoma that arises from the brain stem." [NCIT:C5098] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "brain stem ependymoma" EXACT [NCIT:C5098] -synonym: "brainstem ependymoma" EXACT [MONDO:patterns/location, NCIT:C5098] -synonym: "ependymoma of brain stem" EXACT [NCIT:C5098] -synonym: "ependymoma of brainstem" EXACT [NCIT:C5098] -synonym: "ependymoma of the brain stem" EXACT [NCIT:C5098] -synonym: "ependymoma of the brainstem" EXACT [DOID:5508, NCIT:C5098] +synonym: "brain stem ependymoma" EXACT [DOID:5508, NCIT:C5098] +synonym: "brainstem ependymoma" EXACT [MONDO:patterns/location] +synonym: "ependymoma of brain stem" EXACT [] +synonym: "ependymoma of brainstem" EXACT [] +synonym: "ependymoma of the brain stem" EXACT [] +synonym: "ependymoma of the brainstem" EXACT [DOID:5508] xref: DOID:5508 {source="MONDO:equivalentTo"} xref: MEDGEN:231459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5098 {source="MONDO:equivalentTo", source="DOID:5508", source="MONDO:exact-label-match"} @@ -63573,7 +63575,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "childhood ependymoma" EXACT [DOID:5509, NCIT:C8578] -synonym: "ependymoma" BROAD [NCIT:C8578] +synonym: "ependymoma" BROAD [] synonym: "ependymoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric ependymoma" EXACT OMO:0003005 [] synonym: "pediatric ependymoma" EXACT [MONDO:patterns/childhood, NCIT:C8578] @@ -63609,7 +63611,7 @@ def: "A dysgerminoma (disease) that involves the pineal body." [MONDO:patterns/l subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "pineal body dysgerminoma (disease)" EXACT [MONDO:patterns/location] -synonym: "pineal dysgerminoma" EXACT [NCIT:C7169] +synonym: "pineal dysgerminoma" EXACT [DOID:5510, NCIT:C7169] synonym: "pineal region dysgerminoma" EXACT [NCIT:C7169] xref: DOID:5510 {source="MONDO:equivalentTo"} xref: MEDGEN:233328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -63627,7 +63629,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dysgerminoma" RELATED [ONCOTREE:ODYS] -synonym: "dysgerminoma of ovary" EXACT [NCIT:C8106] +synonym: "dysgerminoma of ovary" EXACT [DOID:5511, icd11.foundation:208782658, NCIT:C8106] synonym: "dysgerminoma of the ovary" EXACT [NCIT:C8106] synonym: "germ cell dysgerminoma of ovary" EXACT [NCIT:C8106] synonym: "germ cell dysgerminoma of the ovary" EXACT [NCIT:C8106] @@ -63655,7 +63657,7 @@ def: "A infectious disease involving the Pediculus humanus corporis." [MONDO:pat synonym: "body louse infestation" EXACT [DOID:5513] synonym: "infections, Pediculus humanus corporis" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Pediculus corporis" EXACT [DOID:5513] -synonym: "Pediculus corporis [body louse]" EXACT [DOID:5513, ICD9CM:132.1] +synonym: "Pediculus corporis [body louse]" EXACT [ICD9CM:132.1] synonym: "Pediculus humanus corporis infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Pediculus humanus infestation" EXACT [DOID:5513] xref: DOID:5513 {source="MONDO:equivalentTo"} @@ -63691,10 +63693,10 @@ id: MONDO:0003486 name: basaloid squamous cell carcinoma def: "A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading." [NCIT:C54244] subset: otar {source="MONDO:OTAR"} -synonym: "basaloid carcinoma" BROAD [DOID:5522, NCIT:C4121] -synonym: "basaloid carcinoma (morphologic abnormality)" BROAD [DOID:5522] -synonym: "basaloid squamous cell carcinoma" EXACT [NCIT:C54244] -synonym: "basaloid squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:5522] +synonym: "basaloid carcinoma" BROAD [] +synonym: "basaloid carcinoma (morphologic abnormality)" BROAD [] +synonym: "basaloid squamous cell carcinoma" EXACT [DOID:5522, NCIT:C54244] +synonym: "basaloid squamous cell carcinoma (morphologic abnormality)" EXACT [] xref: DOID:5522 {source="MONDO:equivalentTo"} xref: EFO:1001940 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1738201981 {source="MONDO:equivalentTo"} @@ -63710,13 +63712,13 @@ is_a: MONDO:0006102 {source="NCIT:C54244"} ! basaloid carcinoma id: MONDO:0003487 name: pseudoglandular squamous cell carcinoma def: "A squamous cell carcinoma characterized by the formation of gland-like structures." [NCIT:P378] -synonym: "acantholytic squamous cell carcinoma" RELATED [DOID:5524] -synonym: "adenoacanthoma" RELATED [DOID:5524] -synonym: "adenocarcinoma with squamous metaplasia" RELATED [DOID:5524] -synonym: "adenocarcinoma with squamous metaplasia (morphologic abnormality)" RELATED [DOID:5524] +synonym: "acantholytic squamous cell carcinoma" RELATED [] +synonym: "adenoacanthoma" RELATED [] +synonym: "adenocarcinoma with squamous metaplasia" RELATED [] +synonym: "adenocarcinoma with squamous metaplasia (morphologic abnormality)" RELATED [] synonym: "adenoid squamous carcinoma" EXACT [NCIT:C4106] -synonym: "adenoid squamous cell carcinoma" EXACT [NCIT:C4106] -synonym: "adenoid squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:5524] +synonym: "adenoid squamous cell carcinoma" EXACT [DOID:5524, NCIT:C4106] +synonym: "adenoid squamous cell carcinoma (morphologic abnormality)" EXACT [] synonym: "pharyngeal tonsil squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "pseudoglandular epidermoid carcinoma" EXACT [NCIT:C4106] synonym: "pseudoglandular epidermoid cell carcinoma" EXACT [NCIT:C4106] @@ -63752,7 +63754,7 @@ name: ampulla of vater squamous cell carcinoma def: "A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C27417] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ampulla of Vater squamous cell carcinoma" EXACT [NCIT:C27417] +synonym: "ampulla of Vater squamous cell carcinoma" EXACT [DOID:5527, NCIT:C27417] synonym: "hepatopancreatic ampulla squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5527 {source="MONDO:equivalentTo"} xref: MEDGEN:272304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -63775,12 +63777,12 @@ name: lacrimal gland squamous cell carcinoma def: "A squamous cell carcinoma that involves the lacrimal gland." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "epidermoid carcinoma of lacrimal gland" EXACT [NCIT:C6092] -synonym: "epidermoid carcinoma of the lacrimal gland" EXACT [DOID:5529, NCIT:C6092] -synonym: "lacrimal gland epidermoid carcinoma" EXACT [NCIT:C6092] -synonym: "lacrimal gland squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6092] -synonym: "squamous cell carcinoma of lacrimal gland" EXACT [DOID:5529, NCIT:C6092] -synonym: "squamous cell carcinoma of the lacrimal gland" EXACT [NCIT:C6092] +synonym: "epidermoid carcinoma of lacrimal gland" EXACT [] +synonym: "epidermoid carcinoma of the lacrimal gland" EXACT [DOID:5529] +synonym: "lacrimal gland epidermoid carcinoma" EXACT [] +synonym: "lacrimal gland squamous cell carcinoma" EXACT [DOID:5529, MONDO:patterns/location] +synonym: "squamous cell carcinoma of lacrimal gland" EXACT [] +synonym: "squamous cell carcinoma of the lacrimal gland" EXACT [] xref: DOID:5529 {source="MONDO:equivalentTo"} xref: MEDGEN:233607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6092 {source="MONDO:equivalentTo", source="DOID:5529", source="MONDO:exact-label-match"} @@ -63801,8 +63803,8 @@ synonym: "epidermoid thymic carcinoma" EXACT [DOID:5530, NCIT:C6455] synonym: "squamous cell carcinoma of the Thymus" EXACT [NCIT:C6455] synonym: "squamous cell carcinoma of Thymus" EXACT [NCIT:C6455] synonym: "thymic squamous cell carcinoma" EXACT [MONDO:0006454, NCIT:C6455] -synonym: "Thymus squamous cell carcinoma" EXACT [NCIT:C6455] -synonym: "thymus squamous cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "Thymus squamous cell carcinoma" EXACT [DOID:5530, NCIT:C6455] +synonym: "thymus squamous cell carcinoma" EXACT [DOID:5530, MONDO:patterns/location, NCIT:C6455] xref: DOID:5530 {source="MONDO:equivalentTo"} xref: EFO:1000579 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:234814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -63821,7 +63823,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ovarian squamous cell cancer" EXACT [NCIT:C40093] -synonym: "ovarian squamous cell carcinoma" EXACT [MONDO:0006342, NCIT:C40093] +synonym: "ovarian squamous cell carcinoma" EXACT [DOID:5531, MONDO:0006342, NCIT:C40093] synonym: "ovary squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5531 {source="MONDO:equivalentTo"} xref: EFO:1000432 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -63837,8 +63839,8 @@ intersection_of: disease_has_location UBERON:0000992 ! ovary id: MONDO:0003495 name: ovarian squamous cell neoplasm def: "A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor." [NCIT:C40092] -synonym: "ovarian squamous cell neoplasm" EXACT [NCIT:C40092] -synonym: "ovarian squamous cell tumor" EXACT [NCIT:C40092] +synonym: "ovarian squamous cell neoplasm" EXACT [] +synonym: "ovarian squamous cell tumor" EXACT [] synonym: "ovarian squamous cell tumour" EXACT OMO:0003005 [] synonym: "ovary squamous cell neoplasm" EXACT [MONDO:patterns/location] xref: DOID:5532 {source="MONDO:equivalentObsolete"} @@ -63864,12 +63866,12 @@ synonym: "epidermoid carcinoma of the kidney pelvis" EXACT [DOID:5534, NCIT:C773 synonym: "epidermoid carcinoma of the renal pelvis" EXACT [NCIT:C7732] synonym: "kidney pelvis epidermoid carcinoma" EXACT [NCIT:C7732] synonym: "kidney pelvis squamous cell carcinoma" EXACT [NCIT:C7732] -synonym: "kidney renal pelvis squamous cell cancer" EXACT [NCIT:C7732] +synonym: "kidney renal pelvis squamous cell cancer" EXACT [] synonym: "renal pelvis epidermoid carcinoma" EXACT [NCIT:C7732] synonym: "renal pelvis squamous cell cancer" EXACT [NCIT:C7732] -synonym: "renal pelvis squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7732] +synonym: "renal pelvis squamous cell carcinoma" EXACT [DOID:5534, MONDO:patterns/location, NCIT:C7732] synonym: "squamous cell carcinoma of kidney pelvis" EXACT [NCIT:C7732] -synonym: "squamous cell carcinoma of renal pelvis" EXACT [DOID:5534, NCIT:C7732] +synonym: "squamous cell carcinoma of renal pelvis" EXACT [NCIT:C7732] synonym: "squamous cell carcinoma of the kidney pelvis" EXACT [NCIT:C7732] synonym: "squamous cell carcinoma of the renal pelvis" EXACT [NCIT:C7732] xref: DOID:5534 {source="MONDO:equivalentTo"} @@ -63891,12 +63893,12 @@ replaced_by: MONDO:0006220 id: MONDO:0003499 name: sarcomatoid squamous cell skin carcinoma def: "A squamous cell carcinoma of the skin with a prominent spindle cell component." [NCIT:C4666] -synonym: "spindle cell (sarcomatoid) squamous cell carcinoma" RELATED [DOID:5536, NCIT:C27084] -synonym: "spindle cell (sarcomatoid) squamous cell skin carcinoma" EXACT [DOID:5536, NCIT:C4666] -synonym: "spindle cell squamous carcinoma of skin" EXACT [NCIT:C4666] +synonym: "spindle cell (sarcomatoid) squamous cell carcinoma" RELATED [] +synonym: "spindle cell (sarcomatoid) squamous cell skin carcinoma" EXACT [DOID:5536] +synonym: "spindle cell squamous carcinoma of skin" EXACT [DOID:5536, NCIT:C4666] synonym: "spindle cell squamous carcinoma of the skin" EXACT [NCIT:C4666] -synonym: "spindle cell squamous cell carcinoma" EXACT [DOID:5536] -synonym: "squamous cell carcinoma, sarcomatoid" RELATED EXCLUDE [DOID:5536] +synonym: "spindle cell squamous cell carcinoma" EXACT [DOID:5536, NCIT:C4666] +synonym: "squamous cell carcinoma, sarcomatoid" RELATED EXCLUDE [] xref: DOID:5536 {source="MONDO:equivalentTo"} xref: MEDGEN:87611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27084 {source="MONDO:relatedTo", source="DOID:5536"} @@ -63931,11 +63933,11 @@ def: "A squamous cell carcinoma that arises from the skin of the external ear." subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "epidermoid carcinoma of external Ear" EXACT [NCIT:C6083] -synonym: "epidermoid carcinoma of the external Ear" EXACT [NCIT:C6083] +synonym: "epidermoid carcinoma of the external Ear" EXACT [DOID:5538, NCIT:C6083] synonym: "epidermoid carcinoma of the external ear" EXACT [DOID:5538, NCIT:C6083] synonym: "external Ear epidermoid carcinoma" EXACT [NCIT:C6083] -synonym: "external Ear squamous cell carcinoma" EXACT [NCIT:C6083] -synonym: "external ear squamous cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "external Ear squamous cell carcinoma" EXACT [DOID:5538, NCIT:C6083] +synonym: "external ear squamous cell carcinoma" EXACT [DOID:5538, MONDO:patterns/location, NCIT:C6083] synonym: "squamous cell carcinoma of external Ear" EXACT [NCIT:C6083] synonym: "squamous cell carcinoma of external ear" RELATED [DOID:5538] synonym: "squamous cell carcinoma of the external Ear" EXACT [NCIT:C6083] @@ -63957,7 +63959,7 @@ synonym: "epidermoid carcinoma of ureter" EXACT [NCIT:C6154] synonym: "squamous cell carcinoma of the ureter" EXACT [NCIT:C6154] synonym: "squamous cell carcinoma of ureter" EXACT [NCIT:C6154] synonym: "ureter epidermoid carcinoma" EXACT [NCIT:C6154] -synonym: "ureter squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6154] +synonym: "ureter squamous cell carcinoma" EXACT [DOID:5539, MONDO:patterns/location, NCIT:C6154] synonym: "ureteral epidermoid carcinoma" EXACT [DOID:5539, NCIT:C6154] synonym: "ureteral squamous cell carcinoma" EXACT [NCIT:C6154] xref: DOID:5539 {source="MONDO:equivalentTo"} @@ -63976,7 +63978,7 @@ def: "A rare squamous cell carcinoma that arises from the fallopian tube." [NCIT subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "fallopian tube squamous cell cancer" EXACT [NCIT:C6282] -synonym: "fallopian tube squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6282] +synonym: "fallopian tube squamous cell carcinoma" EXACT [DOID:5540, MONDO:patterns/location, NCIT:C6282] synonym: "squamous cell carcinoma of fallopian tube" EXACT [NCIT:C6282] synonym: "squamous cell carcinoma of the fallopian tube" EXACT [DOID:5540, NCIT:C6282] xref: DOID:5540 {source="MONDO:equivalentTo"} @@ -64000,7 +64002,7 @@ synonym: "anal canal neuroendocrine tumor" RELATED [MONDO:patterns/neuroendocrin synonym: "anal canal neuroendocrine tumor, well differentiated, low or intermediate grade" RELATED [MONDO:patterns/neuroendocrine_neoplasm] synonym: "anal canal neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "anal neuroendocrine neoplasm" EXACT [NCIT:C5603] -synonym: "anal neuroendocrine tumor" RELATED [DOID:5545] +synonym: "anal neuroendocrine tumor" RELATED [] synonym: "anal neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "anus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "anus neuroendocrine tumor" RELATED [MONDO:patterns/location] @@ -64008,7 +64010,7 @@ synonym: "anus neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "neuroendocrine neoplasm of anal canal" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of anus" EXACT [NCIT:C5603] synonym: "neuroendocrine neoplasm of the anus" EXACT [NCIT:C5603] -synonym: "neuroendocrine tumor of anus" RELATED [DOID:5545, NCIT:C5603] +synonym: "neuroendocrine tumor of anus" RELATED [] synonym: "neuroendocrine tumour of anus" RELATED OMO:0003005 [] xref: DOID:5545 {source="MONDO:equivalentTo"} xref: MEDGEN:231063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -64029,11 +64031,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cancer of femur" EXACT [MONDO:patterns/cancer] -synonym: "femoral neoplasm" BROAD [DOID:5546] +synonym: "femoral neoplasm" BROAD [] synonym: "femur cancer" EXACT [MONDO:patterns/location] synonym: "malignant femur neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of femur" EXACT [MONDO:patterns/cancer] -synonym: "neoplasm of femur" BROAD [DOID:5546] +synonym: "neoplasm of femur" BROAD [] xref: DOID:5546 {source="MONDO:equivalentTo"} xref: MEDGEN:1843484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D005266 {source="DOID:5546", source="MONDO:equivalentTo"} @@ -64055,7 +64057,7 @@ synonym: "choriocarcinoma of pulmonary artery" EXACT [NCIT:C5381] synonym: "choriocarcinoma of the pulmonary artery" EXACT [NCIT:C5381] synonym: "chorioepithelioma of pulmonary artery" EXACT [NCIT:C5381] synonym: "chorioepithelioma of the pulmonary artery" EXACT [NCIT:C5381] -synonym: "pulmonary artery choriocarcinoma" EXACT [NCIT:C5381] +synonym: "pulmonary artery choriocarcinoma" EXACT [DOID:5547, NCIT:C5381] synonym: "pulmonary artery choriocarcinoma (disease)" EXACT [MONDO:patterns/location] synonym: "pulmonary artery chorioepithelioma" EXACT [NCIT:C5381] synonym: "pulmonary artery syncytioma" EXACT [NCIT:C5381] @@ -64079,7 +64081,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "choriocarcinoma of ovary" EXACT [NCIT:C4515] +synonym: "choriocarcinoma of ovary" EXACT [DOID:5550, NCIT:C4515] synonym: "choriocarcinoma of the ovary" EXACT [NCIT:C4515] synonym: "germ cell choriocarcinoma of ovary" EXACT [NCIT:C4515] synonym: "germ cell choriocarcinoma of the ovary" EXACT [NCIT:C4515] @@ -64107,8 +64109,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "choriocarcinoma" RELATED [ONCOTREE:TCCA] -synonym: "choriocarcinoma of testis" EXACT [NCIT:C7733] -synonym: "choriocarcinoma of the testis" EXACT [NCIT:C7733] +synonym: "choriocarcinoma of testis" EXACT [icd11.foundation:1972827817, NCIT:C7733] +synonym: "choriocarcinoma of the testis" EXACT [DOID:5551, NCIT:C7733] synonym: "testicular choriocarcinoma" EXACT [DOID:5551, MONDO:0006445, NCIT:C7733] synonym: "testis choriocarcinoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:5551 {source="MONDO:equivalentTo"} @@ -64162,11 +64164,11 @@ synonym: "malignant germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "malignant germ cell tumour of the testis" EXACT OMO:0003005 [] synonym: "malignant testicular germ cell neoplasm" EXACT [NCIT:C9063] synonym: "malignant testicular germ cell tumor" EXACT [NCIT:C9063] -synonym: "testicular ca. (no germ/tropho.)" EXACT [NCIT:C9063] -synonym: "testicular cancer" BROAD [NCIT:C9063] -synonym: "testicular cancer (excluding germ cell or trophoblastic cancer)" EXACT [NCIT:C9063] +synonym: "testicular ca. (no germ/tropho.)" EXACT [] +synonym: "testicular cancer" BROAD [] +synonym: "testicular cancer (excluding germ cell or trophoblastic cancer)" EXACT [] synonym: "testicular germ cell cancer" EXACT [NCIT:C9063] -synonym: "testicular malignant germ cell cancer" RELATED [DOID:5556] +synonym: "testicular malignant germ cell cancer" RELATED [] xref: DOID:5556 {source="MONDO:equivalentTo"} xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:163616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -64198,7 +64200,7 @@ synonym: "soft tissue neoplasm of mediastinum" EXACT [NCIT:C6637] synonym: "soft tissue neoplasm of the mediastinum" EXACT [NCIT:C6637] synonym: "soft tissue tumor of mediastinum" EXACT [DOID:5560, NCIT:C6637] synonym: "soft tissue tumor of the mediastinum" EXACT [NCIT:C6637] -synonym: "soft tissue tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "soft tissue tumour of mediastinum" EXACT OMO:0003005 [DOID:5560] synonym: "soft tissue tumour of the mediastinum" EXACT OMO:0003005 [] xref: DOID:5560 {source="MONDO:equivalentTo"} xref: MEDGEN:233171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -64216,7 +64218,7 @@ name: gastric teratoma def: "A mature or immature teratoma that arises from the stomach." [NCIT:C5259] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "gastric teratoma" EXACT [NCIT:C5259] +synonym: "gastric teratoma" EXACT [DOID:5561, NCIT:C5259] synonym: "stomach teratoma" EXACT [MONDO:patterns/location] synonym: "teratoma of stomach" EXACT [DOID:5561, NCIT:C5259] synonym: "teratoma of the stomach" EXACT [NCIT:C5259] @@ -64235,10 +64237,10 @@ name: malignant teratoma def: "A malignant form of teratoma." [MONDO:patterns/malignant] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "immature teratoma" RELATED EXCLUDE [DOID:5563] -synonym: "malignant extragonadal teratoma" NARROW [DOID:5563] -synonym: "primary malignant extragonadal teratoma" RELATED EXCLUDE [DOID:5563] -synonym: "teratoma, malignant" EXACT [MONDO:patterns/malignant] +synonym: "immature teratoma" RELATED EXCLUDE [] +synonym: "malignant extragonadal teratoma" NARROW [] +synonym: "primary malignant extragonadal teratoma" RELATED EXCLUDE [] +synonym: "teratoma, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4287] xref: DOID:5563 {source="MONDO:equivalentTo"} xref: MEDGEN:1652407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D013724 {source="DOID:5563"} @@ -64259,7 +64261,7 @@ name: fallopian tube teratoma def: "A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "fallopian tube teratoma" EXACT [MONDO:patterns/location] +synonym: "fallopian tube teratoma" EXACT [DOID:5564, MONDO:patterns/location, NCIT:C40131] xref: DOID:5564 {source="MONDO:equivalentTo"} xref: MEDGEN:309129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40131 {source="DOID:5564", source="MONDO:equivalentTo"} @@ -64275,9 +64277,9 @@ name: adult teratoma def: "A teratoma that occurs in an adult." [MONDO:design_pattern] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult teratoma" EXACT [NCIT:C9013] -synonym: "adult teratoma, NOS" RELATED EXCLUDE [DOID:5565] -synonym: "teratoma" BROAD [NCIT:C9013] +synonym: "adult teratoma" EXACT [DOID:5565, NCIT:C9013] +synonym: "adult teratoma, NOS" RELATED EXCLUDE [] +synonym: "teratoma" BROAD [] synonym: "teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:5565 {source="MONDO:equivalentTo"} xref: MEDGEN:277966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -64314,7 +64316,7 @@ name: mediastinum teratoma def: "A teratoma that involves the mediastinum." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mediastinum teratoma" EXACT [MONDO:patterns/location] +synonym: "mediastinum teratoma" EXACT [DOID:5568, MONDO:patterns/location] synonym: "teratoma of mediastinum" EXACT [DOID:5568, NCIT:C6438] xref: DOID:5568 {source="MONDO:equivalentTo"} xref: MEDGEN:233175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -64333,7 +64335,7 @@ synonym: "MAC" RELATED ABBREVIATION [ONCOTREE:MAC] synonym: "microcystic adnexal carcinoma" EXACT [DOID:5569, NCIT:C7581] synonym: "microcystic adnexal carcinoma of skin" EXACT [DOID:5569] synonym: "syringoma, malignant" EXACT [MONDO:patterns/malignant] -synonym: "syringomatous carcinoma" EXACT [DOID:5569] +synonym: "syringomatous carcinoma" EXACT [DOID:5569, NCIT:C7581] xref: DOID:5569 {source="MONDO:equivalentTo"} xref: MEDGEN:83399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7581 {source="MONDO:equivalentTo"} @@ -64360,8 +64362,8 @@ replaced_by: MONDO:0019960 id: MONDO:0003522 name: male orgasm disorder def: "Persistent delay or absence in orgasm not accounted for by a medical reason." [NCIT:P378] -synonym: "inhibited male orgasm" EXACT [DOID:5576, NCIT:C34959] -synonym: "male orgasmic disorder" EXACT [DOID:5576, NCIT:C34959] +synonym: "inhibited male orgasm" EXACT [DOID:5576] +synonym: "male orgasmic disorder" EXACT [DOID:5576, ICD10CM:F52.32, NCIT:C34959] xref: DOID:5576 {source="MONDO:equivalentTo"} xref: ICD10CM:F52.32 {source="DOID:5576", source="MONDO:equivalentTo"} xref: MEDGEN:19560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -64391,14 +64393,14 @@ synonym: "G-cell gastrin producing tumor" EXACT [NCIT:C3050] synonym: "G-cell gastrin producing tumour" EXACT OMO:0003005 [] synonym: "G-cell tumor" EXACT [NCIT:C3050] synonym: "G-cell tumour" EXACT OMO:0003005 [] -synonym: "gastrin cell tumor" EXACT [DOID:5577] -synonym: "gastrin cell tumour" EXACT OMO:0003005 [] +synonym: "gastrin cell tumor" EXACT [] +synonym: "gastrin cell tumour" EXACT OMO:0003005 [DOID:5577] synonym: "gastrin secreting tumor" EXACT [DOID:5577, NCIT:C3050] synonym: "gastrin secreting tumour" EXACT OMO:0003005 [] synonym: "gastrin-producing NET" EXACT [NCIT:C3050] synonym: "gastrin-producing neuroendocrine tumor" EXACT [NCIT:C3050] -synonym: "gastrinoma" EXACT [NCIT:C3050] -synonym: "malignant gastrinoma" NARROW [DOID:5577] +synonym: "gastrinoma" EXACT [DOID:5577, NCIT:C3050] +synonym: "malignant gastrinoma" NARROW [] xref: DOID:5577 {source="MONDO:equivalentTo"} xref: ICDO:8153/1 {source="NCIT:C3050"} xref: MEDGEN:6551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -64423,7 +64425,7 @@ synonym: "gastric gastrin producing tumor" EXACT [NCIT:C27444] synonym: "gastric gastrin producing tumour" EXACT OMO:0003005 [] synonym: "gastric gastrin-producing NET" EXACT [NCIT:C27444] synonym: "gastric gastrin-producing neuroendocrine tumor" EXACT [NCIT:C27444] -synonym: "gastric gastrinoma" RELATED [DOID:5579] +synonym: "gastric gastrinoma" RELATED [] synonym: "gastrin producing neuroendocrine tumor of the stomach" EXACT [NCIT:C27444] synonym: "gastrin producing neuroendocrine tumour of the stomach" EXACT OMO:0003005 [] synonym: "gastrin producing tumor of the stomach" EXACT [NCIT:C27444] @@ -64456,13 +64458,13 @@ synonym: "gastrin-producing neuroendocrine tumour of pancreas" EXACT OMO:0003005 synonym: "islet cell tumor, ulcerogenic" RELATED [MESH:D015408] synonym: "pancreas gastrin-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "pancreas gastrin-producing neuroendocrine tumour" EXACT OMO:0003005 [] -synonym: "pancreatic G-cell tumor" EXACT [DOID:5580, NCIT:C9069] +synonym: "pancreatic G-cell tumor" EXACT [DOID:5580] synonym: "pancreatic G-cell tumour" EXACT OMO:0003005 [] synonym: "pancreatic gastrin producing NET" EXACT [NCIT:C9069] synonym: "pancreatic gastrin producing tumor" EXACT [NCIT:C9069] synonym: "pancreatic gastrin producing tumour" EXACT OMO:0003005 [] synonym: "pancreatic gastrin-producing neuroendocrine tumor" EXACT [NCIT:C9069] -synonym: "pancreatic gastrinoma" RELATED EXCLUDE [DOID:5580] +synonym: "pancreatic gastrinoma" RELATED EXCLUDE [] xref: DOID:5580 {source="MONDO:equivalentTo"} xref: MEDGEN:235080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D015408 {source="MONDO:equivalentTo"} @@ -64543,8 +64545,8 @@ replaced_by: MONDO:0044789 id: MONDO:0003531 name: papillary eccrine carcinoma subset: otar {source="MONDO:OTAR"} -synonym: "digital papillary adenocarcinoma" RELATED [DOID:5591] -synonym: "eccrine papillary adenocarcinoma" RELATED [DOID:5591] +synonym: "digital papillary adenocarcinoma" RELATED [] +synonym: "eccrine papillary adenocarcinoma" RELATED [] synonym: "papillary apocrine fibroadenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] synonym: "papillary eccrine adenoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] synonym: "papillary eccrine carcinoma" EXACT [NCIT:C27254] @@ -64564,13 +64566,13 @@ intersection_of: MONDO:0024240 {source="NCIT:C27254"} ! eccrine carcinoma id: MONDO:0003532 name: breast papillary carcinoma def: "A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells." [NCIT:P378] -synonym: "breast papillary carcinoma" EXACT [MONDO:patterns/location] -synonym: "breast solid papillary carcinoma" NARROW [DOID:5592] +synonym: "breast papillary carcinoma" EXACT [DOID:5592, MONDO:patterns/location, NCIT:C9134] +synonym: "breast solid papillary carcinoma" NARROW [] synonym: "Papillary breast cancer" EXACT [NCIT:C9134] synonym: "papillary breast carcinoma" EXACT [NCIT:C9134] -synonym: "papillary carcinoma of breast" EXACT [DOID:5592, NCIT:C9134] +synonym: "papillary carcinoma of breast" EXACT [NCIT:C9134] synonym: "papillary carcinoma of the breast" EXACT [DOID:5592, NCIT:C9134] -synonym: "solid papillary carcinoma of the breast" NARROW [DOID:5592] +synonym: "solid papillary carcinoma of the breast" NARROW [] xref: DOID:5592 {source="MONDO:equivalentTo"} xref: MEDGEN:818226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6870 {source="DOID:5592"} @@ -64616,9 +64618,9 @@ name: fallopian tube papillary adenocarcinoma def: "An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern." [NCIT:C6267] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "fallopian tube papillary adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6267] -synonym: "papillary adenocarcinoma of fallopian tube" EXACT [NCIT:C6267] -synonym: "papillary adenocarcinoma of the fallopian tube" EXACT [DOID:5597, NCIT:C6267] +synonym: "fallopian tube papillary adenocarcinoma" EXACT [DOID:5597, MONDO:patterns/location, NCIT:C6267] +synonym: "papillary adenocarcinoma of fallopian tube" EXACT [] +synonym: "papillary adenocarcinoma of the fallopian tube" EXACT [DOID:5597] xref: DOID:5597 {source="MONDO:equivalentTo"} xref: MEDGEN:234261 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6267 {source="DOID:5597", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -64643,7 +64645,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "precursor T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8694] synonym: "precursor T lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8694] -synonym: "precursor T-lymphoblastic lymphoma/leukemia" EXACT [DOID:5599, NCIT:C8694] +synonym: "precursor T-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8694] synonym: "T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8694] xref: DOID:5599 {source="MONDO:equivalentObsolete"} xref: ICDO:9837/3 {source="NCIT:C8694"} @@ -64683,7 +64685,7 @@ synonym: "acute Adult T-cell Leukemia-lymphoma" EXACT [DOID:5602] synonym: "adult acute lymphoblastic leukaemia of T cell" EXACT OMO:0003005 [] synonym: "adult acute lymphoblastic leukemia of T cell" EXACT [MONDO:design_pattern] synonym: "adult precursor T lymphoblastic leukaemia" EXACT OMO:0003005 [] -synonym: "adult precursor T lymphoblastic leukemia" EXACT [DOID:5602, NCIT:C9142] +synonym: "adult precursor T lymphoblastic leukemia" EXACT [DOID:5602] synonym: "adult precursor T-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult precursor T-lymphoblastic leukemia" EXACT [NCIT:C9142] synonym: "adult T acute lymphoblastic leukaemia" EXACT OMO:0003005 [] @@ -64726,15 +64728,15 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute lymphoblastic leukaemia (ALL)" BROAD OMO:0003005 [] -synonym: "acute lymphoblastic leukemia (ALL)" BROAD [NCIT:C4967] +synonym: "acute lymphoblastic leukemia (ALL)" BROAD [] synonym: "adult acute lymphoblastic leukemia" EXACT [NCIT:C4967] synonym: "adult acute lymphocytic leukaemia" EXACT OMO:0003005 [] -synonym: "adult acute lymphocytic leukemia" EXACT [NCIT:C4967] +synonym: "adult acute lymphocytic leukemia" EXACT [DOID:5604, NCIT:C4967] synonym: "adult acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "adult acute lymphogenous leukemia" EXACT [NCIT:C4967] synonym: "adult acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "adult acute lymphoid leukemia" EXACT [DOID:5604, NCIT:C4967] -synonym: "adult ALL" EXACT [NCIT:C4967] +synonym: "adult ALL" EXACT [DOID:5604, NCIT:C4967] synonym: "adult precursor lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "adult precursor lymphoblastic leukemia" EXACT [NCIT:C4967] xref: DOID:5604 {source="MONDO:equivalentTo"} @@ -64747,7 +64749,7 @@ relationship: has_characteristic PATO:0000389 ! acute [Term] id: MONDO:0003542 name: dental pulp calcification -synonym: "pulp calcification" EXACT [DOID:5608] +synonym: "pulp calcification" EXACT [DOID:5608, icd11.foundation:1672640309] synonym: "pulp calcifications" EXACT [DOID:5608] synonym: "pulpal calcifications" EXACT [DOID:5608] xref: DOID:5608 {source="MONDO:equivalentTo"} @@ -64770,9 +64772,9 @@ synonym: "disorder of the fifth cranial nerve" RELATED [] synonym: "disorder of trigeminal nerve" EXACT [MONDO:patterns/location_top] synonym: "disorders of the fifth nerve" RELATED [] synonym: "disorders of the vth cranial nerve" RELATED [] -synonym: "trigeminal nerve disease" EXACT [MONDO:patterns/location] +synonym: "trigeminal nerve disease" EXACT [DOID:561, MONDO:patterns/location] synonym: "trigeminal nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "trigeminal nerve disorder" EXACT [] +synonym: "trigeminal nerve disorder" EXACT [NCIT:C26952] xref: DOID:561 {source="MONDO:equivalentTo"} xref: EFO:0009569 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:350.8 {source="DOID:561"} @@ -64792,9 +64794,9 @@ name: spinal cord cancer def: "A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma." [NCIT:C3572] subset: otar {source="MONDO:OTAR"} synonym: "cancer of spinal cord" EXACT [MONDO:patterns/cancer] -synonym: "intraspinal tumor" BROAD [DOID:5612, NCIT:C3382] +synonym: "intraspinal tumor" BROAD [] synonym: "intraspinal tumour" BROAD OMO:0003005 [] -synonym: "malignant neoplasm of spinal cord" EXACT [MONDO:patterns/cancer, NCIT:C3572] +synonym: "malignant neoplasm of spinal cord" EXACT [ICD10CM:C72.0, MONDO:patterns/cancer, NCIT:C3572] synonym: "malignant neoplasm of the spinal cord" EXACT [NCIT:C3572] synonym: "malignant spinal cord neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3572] synonym: "malignant spinal cord tumor" EXACT [NCIT:C3572] @@ -64804,11 +64806,11 @@ synonym: "malignant tumor of the spinal cord" EXACT [DOID:5612, NCIT:C3572] synonym: "malignant tumour of spinal cord" EXACT OMO:0003005 [] synonym: "malignant tumour of the spinal cord" EXACT OMO:0003005 [] synonym: "spinal cancer" EXACT [DOID:5612] -synonym: "spinal cord cancer" EXACT [MONDO:patterns/location] -synonym: "spinal cord neoplasm" BROAD [DOID:5612] +synonym: "spinal cord cancer" EXACT [DOID:5612, MONDO:patterns/location] +synonym: "spinal cord neoplasm" BROAD [] synonym: "spinal neoplasm" RELATED [DOID:5612] -synonym: "spine cancer" EXACT [NCIT:C3572] -synonym: "tumor of the spinal cord" BROAD [DOID:5612, NCIT:C3381] +synonym: "spine cancer" EXACT [] +synonym: "tumor of the spinal cord" BROAD [] synonym: "tumour of the spinal cord" BROAD OMO:0003005 [] xref: DOID:5612 {source="MONDO:equivalentTo"} xref: ICD10CM:C72.0 {source="DOID:5612", source="MONDO:equivalentTo"} @@ -64847,7 +64849,7 @@ synonym: "intradural extramedullary tumor of spinal canal" EXACT [NCIT:C5135] synonym: "intradural extramedullary tumor of the spinal canal" EXACT [NCIT:C5135] synonym: "intradural extramedullary tumour of spinal canal" EXACT OMO:0003005 [] synonym: "intradural extramedullary tumour of the spinal canal" EXACT OMO:0003005 [] -synonym: "spinal canal intradural extramedullary neoplasm" RELATED [DOID:5615] +synonym: "spinal canal intradural extramedullary neoplasm" RELATED [] xref: DOID:5615 {source="MONDO:equivalentTo"} xref: MEDGEN:272771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5135 {source="MONDO:equivalentTo", source="DOID:5615"} @@ -64891,8 +64893,8 @@ name: adenosquamous breast carcinoma def: "An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation." [NCIT:C40361] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adenosquamous breast carcinoma" EXACT [NCIT:C40361] -synonym: "breast adenosquamous carcinoma" EXACT [MONDO:patterns/location] +synonym: "adenosquamous breast carcinoma" EXACT [DOID:5623, NCIT:C40361] +synonym: "breast adenosquamous carcinoma" EXACT [MONDO:patterns/location, NCIT:C40361] synonym: "metaplastic adenosquamous carcinoma" RELATED [ONCOTREE:MASC] xref: DOID:5623 {source="MONDO:equivalentTo"} xref: MEDGEN:267645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -64911,10 +64913,10 @@ name: adenosquamous bile duct carcinoma def: "An adenosquamous carcinoma that arises from the bile ducts." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adenosquamous bile duct carcinoma" EXACT [NCIT:C5778] -synonym: "adenosquamous carcinoma of bile duct" EXACT [NCIT:C5778] -synonym: "adenosquamous carcinoma of the bile duct" EXACT [NCIT:C5778] -synonym: "bile duct adenosquamous carcinoma" EXACT [DOID:5624, MONDO:patterns/location, NCIT:C5778] +synonym: "adenosquamous bile duct carcinoma" EXACT [DOID:5624] +synonym: "adenosquamous carcinoma of bile duct" EXACT [] +synonym: "adenosquamous carcinoma of the bile duct" EXACT [] +synonym: "bile duct adenosquamous carcinoma" EXACT [DOID:5624, MONDO:patterns/location] xref: DOID:5624 {source="MONDO:equivalentTo"} xref: MEDGEN:163666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5778 {source="DOID:5624"} @@ -64931,7 +64933,7 @@ def: "An esophageal carcinoma characterized by the presence of distinguishable s subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "esophageal adenosquamous cancer" EXACT [NCIT:C27421] -synonym: "esophageal adenosquamous carcinoma" EXACT [NCIT:C27421] +synonym: "esophageal adenosquamous carcinoma" EXACT [DOID:5625, NCIT:C27421] synonym: "esophagus adenosquamous carcinoma" EXACT [MONDO:patterns/location] synonym: "oesophagus adenosquamous carcinoma" EXACT OMO:0003005 [] xref: DOID:5625 {source="MONDO:equivalentTo"} @@ -64952,8 +64954,8 @@ subset: rare synonym: "adenosquamous carcinoma of the Thymus" EXACT [DOID:5626, NCIT:C6458] synonym: "adenosquamous carcinoma of Thymus" EXACT [NCIT:C6458] synonym: "thymic adenosquamous carcinoma" EXACT [NCIT:C6458] -synonym: "Thymus adenosquamous carcinoma" EXACT [NCIT:C6458] -synonym: "thymus adenosquamous carcinoma" EXACT [MONDO:patterns/location] +synonym: "Thymus adenosquamous carcinoma" EXACT [DOID:5626, NCIT:C6458] +synonym: "thymus adenosquamous carcinoma" EXACT [DOID:5626, MONDO:patterns/location, NCIT:C6458] xref: DOID:5626 {source="MONDO:equivalentTo"} xref: MEDGEN:272286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6458 {source="MONDO:equivalentTo", source="DOID:5626"} @@ -64976,7 +64978,7 @@ name: ampulla of vater adenosquamous carcinoma def: "A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C27418] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ampulla of Vater adenosquamous carcinoma" EXACT [NCIT:C27418] +synonym: "ampulla of Vater adenosquamous carcinoma" EXACT [DOID:5628, NCIT:C27418] synonym: "hepatopancreatic ampulla adenosquamous carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5628 {source="MONDO:equivalentTo"} xref: MEDGEN:231056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -64994,9 +64996,9 @@ name: adenosquamous colon carcinoma def: "An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adenosquamous carcinoma of colon" EXACT [DOID:5629, NCIT:C5491] +synonym: "adenosquamous carcinoma of colon" EXACT [NCIT:C5491] synonym: "adenosquamous carcinoma of the colon" EXACT [NCIT:C5491] -synonym: "adenosquamous colon carcinoma" EXACT [NCIT:C5491] +synonym: "adenosquamous colon carcinoma" EXACT [DOID:5629, NCIT:C5491] synonym: "colon adenosquamous cancer" EXACT [NCIT:C5491] synonym: "colon adenosquamous carcinoma" EXACT [MONDO:patterns/location, NCIT:C5491] synonym: "colonic adenosquamous carcinoma" EXACT [DOID:5629, NCIT:C5491] @@ -65016,7 +65018,7 @@ def: "A carcinoma that arises from the Bartholin gland and is characterized by t subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Bartholin gland adenosquamous carcinoma" EXACT [DOID:5630, NCIT:C40296] -synonym: "Bartholin's gland adenosquamous carcinoma" EXACT [NCIT:C40296] +synonym: "Bartholin's gland adenosquamous carcinoma" EXACT [DOID:5630, NCIT:C40296] synonym: "major vestibular gland adenosquamous carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5630 {source="MONDO:equivalentTo"} xref: MEDGEN:267339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -65032,10 +65034,10 @@ id: MONDO:0003556 name: endometrial adenosquamous carcinoma def: "A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "adenosquamous carcinoma of endometrium" EXACT [DOID:5631, NCIT:C6290] +synonym: "adenosquamous carcinoma of endometrium" EXACT [DOID:5631] synonym: "adenosquamous carcinoma of the endometrium" RELATED [GARD:0013107] synonym: "endometrial adenosquamous cancer" RELATED [GARD:0013107] -synonym: "endometrial adenosquamous carcinoma" EXACT [GARD:0013107, NCIT:C114656] +synonym: "endometrial adenosquamous carcinoma" EXACT [DOID:5631, GARD:0013107, NCIT:C114656] synonym: "endometrium adenosquamous carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5631 {source="MONDO:equivalentTo"} xref: EFO:1001952 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -65056,7 +65058,7 @@ comment: Editor note: TODO axiomatize subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "meningioma of optic nerve sheath" EXACT [NCIT:C4538] +synonym: "meningioma of optic nerve sheath" EXACT [DOID:5632, NCIT:C4538] synonym: "meningioma of the optic nerve sheath" EXACT [NCIT:C4538] synonym: "optic nerve sheath meningioma" EXACT [DOID:5632, NCIT:C4538] xref: DOID:5632 {source="MONDO:equivalentTo"} @@ -65073,7 +65075,7 @@ relationship: disease_has_location UBERON:0000941 ! cranial nerve II id: MONDO:0003558 name: adenosquamous prostate carcinoma def: "An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones." [NCIT:P378] -synonym: "adenosquamous carcinoma of prostate" EXACT [DOID:5634, NCIT:C5538] +synonym: "adenosquamous carcinoma of prostate" EXACT [NCIT:C5538] synonym: "adenosquamous carcinoma of the prostate" EXACT [DOID:5634, NCIT:C5538] synonym: "prostate adenosquamous carcinoma" EXACT [NCIT:C5538] synonym: "prostate gland adenosquamous carcinoma" EXACT [MONDO:patterns/location] @@ -65108,10 +65110,10 @@ subset: rare synonym: "giant cell fibrous histiocytoma" EXACT [NCIT:C8380] synonym: "giant cell malignant fibrous histiocytoma" EXACT [NCIT:C8380] synonym: "malignant giant cell neoplasm of soft parts" EXACT [DOID:5638, NCIT:C8380] -synonym: "malignant giant cell tumor of soft parts" EXACT [NCIT:C8380] -synonym: "malignant giant cell tumor of soft parts (morphologic abnormality)" EXACT [DOID:5638] +synonym: "malignant giant cell tumor of soft parts" EXACT [DOID:5638, NCIT:C8380] +synonym: "malignant giant cell tumor of soft parts (morphologic abnormality)" EXACT [] synonym: "malignant giant cell tumour of soft parts (morphologic abnormality)" EXACT OMO:0003005 [] -synonym: "malignant Osteoclastoma" EXACT [NCIT:C8380] +synonym: "malignant Osteoclastoma" EXACT [] synonym: "undifferentiated pleomorphic sarcoma with osteoclast-like giant cells" EXACT [NCIT:C8380] xref: DOID:5638 {source="MONDO:equivalentTo"} xref: ICDO:9251/3 {source="NCIT:C8380"} @@ -65127,7 +65129,7 @@ id: MONDO:0003562 name: rete testis neoplasm def: "A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma." [NCIT:C39955] synonym: "neoplasm of rete testis" EXACT [MONDO:patterns/neoplasm] -synonym: "rete testis neoplasm" EXACT [NCIT:C39955] +synonym: "rete testis neoplasm" EXACT [DOID:5639, NCIT:C39955] synonym: "rete testis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "rete testis tumor" EXACT [MONDO:patterns/neoplasm] synonym: "rete testis tumour" EXACT OMO:0003005 [] @@ -65170,7 +65172,7 @@ id: MONDO:0003565 name: urethral villous adenoma def: "An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern." [NCIT:C39872] synonym: "urethra villous adenoma" EXACT [MONDO:patterns/location] -synonym: "urethral villous adenoma" EXACT [NCIT:C39872] +synonym: "urethral villous adenoma" EXACT [DOID:5643, NCIT:C39872] xref: DOID:5643 {source="MONDO:equivalentTo"} xref: MEDGEN:274360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39872 {source="DOID:5643", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -65205,11 +65207,11 @@ is_a: MONDO:0002467 {source="DOID:565", source="https://github.com/monarch-initi id: MONDO:0003568 name: disorder of optic chiasm def: "A disease that involves the optic chiasma." [MONDO:patterns/location] -synonym: "chiasma syndrome" EXACT [DOID:5655] +synonym: "chiasma syndrome" EXACT [DOID:5655, icd11.foundation:927459952] synonym: "chiasmal syndrome" EXACT [DOID:5655, Wikipedia:Chiasmal_syndrome] synonym: "disease of optic chiasma" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of optic chiasma" EXACT [] -synonym: "disorder of optic chiasm" EXACT [DOID:5655, ICD9CM:377.5] +synonym: "disorder of optic chiasm" EXACT [DOID:5655, icd11.foundation:927459952, ICD9CM:377.5] synonym: "disorder of optic chiasma" EXACT [MONDO:patterns/location_top] synonym: "optic chiasma disease" EXACT [] synonym: "optic chiasma disease or disorder" EXACT [MONDO:patterns/location] @@ -65230,7 +65232,7 @@ id: MONDO:0003569 name: cranial nerve neuropathy def: "A neoplastic or non-neoplastic disorder that affects one of the cranial nerves." [NCIT:C26733] subset: otar {source="MONDO:OTAR"} -synonym: "cranial nerve disease" EXACT [NCIT:C26733] +synonym: "cranial nerve disease" EXACT [DOID:5656, NCIT:C26733] synonym: "cranial nerve disorder" EXACT [DOID:5656, NCIT:C26733] synonym: "cranial neuron projection bundle disease" EXACT [MONDO:patterns/location] synonym: "cranial neuron projection bundle disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -65260,7 +65262,7 @@ id: MONDO:0003570 name: lipid-rich carcinoma def: "A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma." [NCIT:C4152] synonym: "lipid-rich carcinoma" EXACT [DOID:5658, NCIT:C4152] -synonym: "lipid-rich carcinoma (morphologic abnormality)" EXACT [DOID:5658] +synonym: "lipid-rich carcinoma (morphologic abnormality)" EXACT [] xref: DOID:5658 {source="MONDO:equivalentTo"} xref: ICDO:8314/3 {source="NCIT:C4152"} xref: MEDGEN:137742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -65296,11 +65298,11 @@ def: "A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx subset: otar {source="MONDO:OTAR"} synonym: "lymphoepithelial carcinoma" EXACT [DOID:5660, NCIT:C4107] synonym: "lymphoepithelioma" EXACT [NCIT:C4107] -synonym: "lymphoepithelioma-like carcinoma" EXACT [DOID:5660, NCIT:C27387, NCIT:C4107] +synonym: "lymphoepithelioma-like carcinoma" EXACT [DOID:5660, NCIT:C4107] synonym: "nasopharyngeal type undifferentiated carcinoma" EXACT [DOID:5660, NCIT:C4107] synonym: "Schmincke tumor" EXACT [NCIT:C4107] synonym: "Schmincke tumour" EXACT OMO:0003005 [] -synonym: "Schminke tumor" EXACT [NCIT:C4107] +synonym: "Schminke tumor" EXACT [] synonym: "Schminke tumour" EXACT OMO:0003005 [] xref: DOID:5660 {source="MONDO:equivalentTo"} xref: ICDO:8082/3 {source="NCIT:C4107"} @@ -65315,8 +65317,8 @@ is_a: MONDO:0005232 {source="NCIT:C4107"} ! large cell carcinoma id: MONDO:0003573 name: pleomorphic carcinoma def: "A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism." [NCIT:C4094] -synonym: "pleomorphic carcinoma" EXACT [NCIT:C4094] -synonym: "pleomorphic carcinoma (morphologic abnormality)" EXACT [DOID:5662] +synonym: "pleomorphic carcinoma" EXACT [DOID:5662, NCIT:C4094] +synonym: "pleomorphic carcinoma (morphologic abnormality)" EXACT [] xref: DOID:5662 {source="MONDO:equivalentTo"} xref: icd11.foundation:1381572140 {source="MONDO:equivalentTo"} xref: ICDO:8022/3 {source="NCIT:C4094"} @@ -65332,16 +65334,16 @@ id: MONDO:0003574 name: external ear cancer def: "A malignant neoplasm involving the external ear." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of external ear" EXACT [MONDO:patterns/cancer] -synonym: "external ear cancer" EXACT [MONDO:patterns/location] +synonym: "external ear cancer" EXACT [DOID:5665, MONDO:patterns/location] synonym: "malignant external Ear neoplasm" EXACT [NCIT:C4653] -synonym: "malignant external ear neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant external ear neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4653] synonym: "malignant external Ear tumor" EXACT [NCIT:C4653] synonym: "malignant external Ear tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of external Ear" EXACT [NCIT:C4653] -synonym: "malignant neoplasm of external ear" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of the external Ear" EXACT [NCIT:C4653] +synonym: "malignant neoplasm of external ear" EXACT [MONDO:patterns/cancer, NCIT:C4653] +synonym: "malignant neoplasm of the external Ear" EXACT [DOID:5665, NCIT:C4653] synonym: "malignant neoplasm of the external ear" EXACT [DOID:5665, NCIT:C4653] -synonym: "malignant tumor of external Ear" EXACT [NCIT:C4653] +synonym: "malignant tumor of external Ear" EXACT [DOID:5665, NCIT:C4653] synonym: "malignant tumor of the external Ear" EXACT [NCIT:C4653] synonym: "malignant tumour of external Ear" EXACT OMO:0003005 [] synonym: "malignant tumour of the external Ear" EXACT OMO:0003005 [] @@ -65360,7 +65362,7 @@ intersection_of: disease_has_location UBERON:0001691 ! external ear id: MONDO:0003575 name: comedocarcinoma def: "A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells." [NCIT:C4188] -synonym: "comedo carcinoma" EXACT [NCIT:C4188] +synonym: "comedo carcinoma" EXACT [DOID:5670] synonym: "Comedocarcinoma" EXACT [DOID:5670, NCIT:C4188] xref: DOID:5670 {source="MONDO:equivalentTo"} xref: ICDO:8501/3 {source="NCIT:C4188"} @@ -65425,7 +65427,7 @@ synonym: "disease or disorder of nerve fiber layer of retina" EXACT [] synonym: "disease or disorder of nerve fibre layer of retina" EXACT OMO:0003005 [] synonym: "disorder of nerve fiber layer of retina" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disorder of nerve fibre layer of retina" EXACT OMO:0003005 [] -synonym: "nerve fiber bundle defect" RELATED [DOID:5678] +synonym: "nerve fiber bundle defect" RELATED [] synonym: "nerve fiber layer of retina disease" EXACT [MONDO:design_pattern] synonym: "nerve fiber layer of retina disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "nerve fibre bundle defect" RELATED OMO:0003005 [] @@ -65460,9 +65462,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "embryonal carcinoma" RELATED [ONCOTREE:OEC] -synonym: "embryonal carcinoma of ovary" EXACT [NCIT:C8108] +synonym: "embryonal carcinoma of ovary" EXACT [DOID:5681, NCIT:C8108] synonym: "embryonal carcinoma of the ovary" EXACT [DOID:5681, NCIT:C8108] -synonym: "ovarian embryonal carcinoma" EXACT [MONDO:0006334, NCIT:C8108] +synonym: "ovarian embryonal carcinoma" EXACT [DOID:5681, MONDO:0006334, NCIT:C8108] synonym: "ovary embryonal carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5681 {source="MONDO:equivalentTo"} xref: EFO:1000415 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -65490,16 +65492,16 @@ subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer" EXACT [DOID:5683] -synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)" EXACT [DOID:5683] +synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)" EXACT [] synonym: "familial breast and ovarian cancer syndrome" EXACT [NCIT:C8493] synonym: "familial breast/ovarian cancer (BRCA1, BRCA2)" EXACT [NCIT:C8493] synonym: "HBOC syndrome" RELATED [MESH:D061325] synonym: "HBOC syndromes" RELATED [MESH:D061325] -synonym: "hereditary breast and ovarian cancer" EXACT [NCIT:C8493] -synonym: "Hereditary Breast and Ovarian Cancer Syndrome" EXACT [NORD:1936] -synonym: "hereditary breast and ovarian cancer syndrome" EXACT [MONDO:0015442, NCIT:C8493] -synonym: "hereditary breast ovarian cancer" RELATED [DOID:5683] -synonym: "hereditary breast ovarian cancer syndrome" EXACT CLINGEN_LABEL [] +synonym: "hereditary breast and ovarian cancer" EXACT [DOID:5683, NCIT:C8493] +synonym: "Hereditary Breast and Ovarian Cancer Syndrome" EXACT [DOID:5683, icd11.foundation:1258896144, NCIT:C8493, NORD:1936] +synonym: "hereditary breast and ovarian cancer syndrome" EXACT [DOID:5683, icd11.foundation:1258896144, MONDO:0015442, NCIT:C8493] +synonym: "hereditary breast ovarian cancer" RELATED [] +synonym: "hereditary breast ovarian cancer syndrome" EXACT CLINGEN_LABEL [DOID:5683] synonym: "hereditary breast/ovarian cancer (BRCA1, BRCA2)" EXACT [NCIT:C8493] synonym: "syndrome, HBOC" RELATED [MESH:D061325] synonym: "syndromes, HBOC" RELATED [MESH:D061325] @@ -65540,7 +65542,7 @@ def: "A disease involving the visual cortex." [https://orcid.org/0000-0002-6601- synonym: "disease of visual cortex" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of visual cortex" EXACT [] synonym: "disorder of visual cortex" EXACT [MONDO:patterns/location_top] -synonym: "visual cortex disease" EXACT [MONDO:patterns/location] +synonym: "visual cortex disease" EXACT [DOID:5691, MONDO:patterns/location] synonym: "visual cortex disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "visual cortex disorder" EXACT [] synonym: "visual cortex dysfunction" EXACT [DOID:5691] @@ -65564,8 +65566,8 @@ name: adult liposarcoma def: "A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." [NCIT:C7811] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult liposarcoma" EXACT [NCIT:C7811] -synonym: "liposarcoma" BROAD [NCIT:C7811] +synonym: "adult liposarcoma" EXACT [DOID:5693, NCIT:C7811] +synonym: "liposarcoma" BROAD [] synonym: "liposarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:5693 {source="MONDO:equivalentTo"} xref: MEDGEN:75842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -65583,9 +65585,9 @@ def: "A malignant adipose tissue neoplasm of the esophagus, characterized by mul subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "esophageal liposarcoma" EXACT [NCIT:C5705] -synonym: "esophagus liposarcoma" EXACT [MONDO:patterns/location, NCIT:C5705] +synonym: "esophagus liposarcoma" EXACT [DOID:5694, MONDO:patterns/location, NCIT:C5705] synonym: "liposarcoma of esophagus" EXACT [DOID:5694, NCIT:C5705] -synonym: "liposarcoma of oesophagus" EXACT OMO:0003005 [] +synonym: "liposarcoma of oesophagus" EXACT OMO:0003005 [DOID:5694] synonym: "liposarcoma of the esophagus" EXACT [NCIT:C5705] synonym: "liposarcoma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:5694 {source="MONDO:equivalentTo"} @@ -65603,9 +65605,9 @@ name: pediatric liposarcoma def: "A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood liposarcoma" EXACT [NCIT:C8091] -synonym: "liposarcoma" BROAD [NCIT:C8091] -synonym: "pediatric liposarcoma" EXACT [NCIT:C8091] +synonym: "childhood liposarcoma" EXACT [DOID:5695, NCIT:C8091] +synonym: "liposarcoma" BROAD [] +synonym: "pediatric liposarcoma" EXACT [DOID:5695, NCIT:C8091] xref: DOID:5695 {source="MONDO:equivalentTo"} xref: MEDGEN:83580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200065 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -65623,7 +65625,7 @@ def: "A rare malignant adipose tissue neoplasm of the larynx. It predominantly a subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "laryngeal liposarcoma" EXACT [NCIT:C6021] -synonym: "larynx liposarcoma" EXACT [MONDO:patterns/location] +synonym: "larynx liposarcoma" EXACT [DOID:5696, MONDO:patterns/location, NCIT:C6021] synonym: "lip larynx sarcoma" EXACT [MONDO:patterns/location] synonym: "liposarcoma of larynx" EXACT [DOID:5696, NCIT:C6021] synonym: "liposarcoma of the larynx" EXACT [NCIT:C6021] @@ -65661,7 +65663,7 @@ def: "A liposarcoma characterized by the presence of a fibroblastic component." subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "fibroblastic liposarcoma" EXACT [DOID:5698, NCIT:C6509] -synonym: "fibroblastic liposarcoma (morphologic abnormality)" EXACT [DOID:5698] +synonym: "fibroblastic liposarcoma (morphologic abnormality)" EXACT [] xref: DOID:5698 {source="MONDO:equivalentTo"} xref: ICDO:8857/3 {source="NCIT:C6509"} xref: MEDGEN:266103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -65676,7 +65678,7 @@ name: kidney liposarcoma def: "A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis." [NCIT:C6185] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "kidney liposarcoma" EXACT [MONDO:patterns/location, NCIT:C6185] +synonym: "kidney liposarcoma" EXACT [DOID:5699, MONDO:patterns/location, NCIT:C6185] synonym: "liposarcoma of kidney" EXACT [DOID:5699, NCIT:C6185] synonym: "liposarcoma of the kidney" EXACT [NCIT:C6185] synonym: "renal liposarcoma" EXACT [NCIT:C6185] @@ -65695,7 +65697,7 @@ name: gastric liposarcoma def: "A malignant adipose tissue neoplasm of the stomach." [NCIT:C5488] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "gastric liposarcoma" EXACT [NCIT:C5488] +synonym: "gastric liposarcoma" EXACT [DOID:5700, NCIT:C5488] synonym: "liposarcoma of stomach" EXACT [NCIT:C5488] synonym: "liposarcoma of the stomach" EXACT [DOID:5700, NCIT:C5488] synonym: "stomach liposarcoma" EXACT [MONDO:patterns/location, NCIT:C5488] @@ -65715,7 +65717,7 @@ name: breast liposarcoma def: "A malignant adipose tissue neoplasm of the breast." [NCIT:C5187] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "breast liposarcoma" EXACT [MONDO:patterns/location, NCIT:C5187] +synonym: "breast liposarcoma" EXACT [DOID:5701, MONDO:patterns/location, NCIT:C5187] synonym: "liposarcoma of breast" EXACT [NCIT:C5187] synonym: "liposarcoma of the breast" EXACT [DOID:5701, NCIT:C5187] xref: DOID:5701 {source="MONDO:equivalentTo"} @@ -65735,8 +65737,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mixed liposarcoma" EXACT [NCIT:C4253] -synonym: "mixed liposarcoma (morphologic abnormality)" EXACT [DOID:5703] +synonym: "mixed liposarcoma" EXACT [DOID:5703, NCIT:C4253] +synonym: "mixed liposarcoma (morphologic abnormality)" EXACT [] xref: DOID:5703 {source="MONDO:equivalentTo"} xref: ICDO:8855/3 {source="NCIT:C4253"} xref: MEDGEN:87249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -65767,7 +65769,7 @@ name: spindle cell liposarcoma def: "A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma." [NCIT:C27489] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "spindle cell liposarcoma" EXACT [NCIT:C27489] +synonym: "spindle cell liposarcoma" EXACT [DOID:5705, NCIT:C27489] xref: DOID:5705 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:266156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -65794,7 +65796,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "median nerve palsy" RELATED [] synonym: "median nerve peripheral neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "median neuropathy" EXACT [] +synonym: "median neuropathy" EXACT [DOID:571] synonym: "peripheral neuropathy of median nerve" EXACT [MONDO:design_pattern] xref: DOID:571 {source="MONDO:equivalentTo"} xref: ICD10CM:G56.1 {source="DOID:571"} @@ -65819,7 +65821,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "liposarcoma of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "mammalian vulva liposarcoma" EXACT [MONDO:patterns/location] -synonym: "vulvar liposarcoma" EXACT [NCIT:C40321] +synonym: "vulvar liposarcoma" EXACT [DOID:5711, NCIT:C40321] xref: DOID:5711 {source="MONDO:equivalentTo"} xref: MEDGEN:412161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40321 {source="DOID:5711", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -65835,7 +65837,7 @@ name: cutaneous liposarcoma def: "A malignant adipose tissue neoplasm of the skin." [NCIT:C5615] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cutaneous liposarcoma" EXACT [NCIT:C5615] +synonym: "cutaneous liposarcoma" EXACT [DOID:5712, NCIT:C5615] synonym: "liposarcoma of skin" EXACT [NCIT:C5615] synonym: "liposarcoma of the skin" EXACT [DOID:5712, NCIT:C5615] synonym: "liposarcoma of zone of skin" EXACT [MONDO:design_pattern] @@ -65860,7 +65862,7 @@ synonym: "lip mediastinum sarcoma" EXACT [MONDO:patterns/location] synonym: "liposarcoma of mediastinum" EXACT [DOID:5713, NCIT:C6614] synonym: "liposarcoma of the mediastinum" EXACT [NCIT:C6614] synonym: "mediastinal liposarcoma" EXACT [NCIT:C6614] -synonym: "mediastinum liposarcoma" EXACT [MONDO:patterns/location] +synonym: "mediastinum liposarcoma" EXACT [DOID:5713, MONDO:patterns/location] xref: DOID:5713 {source="MONDO:equivalentTo"} xref: MEDGEN:233683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6614 {source="DOID:5713", source="MONDO:equivalentTo"} @@ -65890,26 +65892,26 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "non-functioning endocrine neoplasm of pituitary gland" EXACT [MONDO:design_pattern] -synonym: "non-functioning neoplasm of pituitary" EXACT [NCIT:C4009] -synonym: "non-functioning neoplasm of pituitary gland" EXACT [NCIT:C4009] -synonym: "non-functioning neoplasm of the pituitary" EXACT [NCIT:C4009] -synonym: "non-functioning neoplasm of the pituitary gland" EXACT [NCIT:C4009] -synonym: "non-functioning pituitary gland neoplasm" EXACT [NCIT:C4009] -synonym: "non-functioning pituitary gland tumor" EXACT [NCIT:C4009] +synonym: "non-functioning neoplasm of pituitary" EXACT [] +synonym: "non-functioning neoplasm of pituitary gland" EXACT [] +synonym: "non-functioning neoplasm of the pituitary" EXACT [] +synonym: "non-functioning neoplasm of the pituitary gland" EXACT [] +synonym: "non-functioning pituitary gland neoplasm" EXACT [] +synonym: "non-functioning pituitary gland tumor" EXACT [] synonym: "non-functioning pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "non-functioning pituitary neoplasm" EXACT [NCIT:C4009] -synonym: "non-functioning pituitary tumor" EXACT [NCIT:C4009] +synonym: "non-functioning pituitary neoplasm" EXACT [] +synonym: "non-functioning pituitary tumor" EXACT [] synonym: "non-functioning pituitary tumour" EXACT OMO:0003005 [] -synonym: "non-functioning tumor of pituitary" EXACT [NCIT:C4009] -synonym: "non-functioning tumor of pituitary gland" EXACT [NCIT:C4009] -synonym: "non-functioning tumor of the pituitary" EXACT [NCIT:C4009] -synonym: "non-functioning tumor of the pituitary gland" EXACT [NCIT:C4009] +synonym: "non-functioning tumor of pituitary" EXACT [] +synonym: "non-functioning tumor of pituitary gland" EXACT [] +synonym: "non-functioning tumor of the pituitary" EXACT [] +synonym: "non-functioning tumor of the pituitary gland" EXACT [] synonym: "non-functioning tumour of pituitary" EXACT OMO:0003005 [] synonym: "non-functioning tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "non-functioning tumour of the pituitary" EXACT OMO:0003005 [] synonym: "non-functioning tumour of the pituitary gland" EXACT OMO:0003005 [] -synonym: "nonfunctional pituitary gland neoplasm" EXACT [NCIT:C4009] -synonym: "Nonfunctioning pituitary tumor" EXACT [NCIT:C4009] +synonym: "nonfunctional pituitary gland neoplasm" EXACT [] +synonym: "Nonfunctioning pituitary tumor" EXACT [] synonym: "Nonfunctioning pituitary tumour" EXACT OMO:0003005 [] synonym: "pituitary gland non-functioning endocrine neoplasm" EXACT [MONDO:patterns/location] xref: MEDGEN:756062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -65930,20 +65932,20 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "functioning endocrine neoplasm of pituitary gland" EXACT [MONDO:design_pattern] -synonym: "functioning pituitary gland neoplasm" EXACT [NCIT:C7047] +synonym: "functioning pituitary gland neoplasm" EXACT [] synonym: "functioning pituitary neoplasm" EXACT [] synonym: "functioning pituitary tumor" RELATED [] synonym: "functioning pituitary tumour" RELATED OMO:0003005 [] -synonym: "growth hormone producing pituitary tumor" RELATED EXCLUDE [DOID:5716] +synonym: "growth hormone producing pituitary tumor" RELATED EXCLUDE [] synonym: "growth hormone producing pituitary tumour" RELATED OMO:0003005 [] -synonym: "hormone producing pituitary cancer" RELATED [DOID:5716] -synonym: "hormone producing pituitary neoplasm" EXACT [NCIT:C7047] +synonym: "hormone producing pituitary cancer" RELATED [] +synonym: "hormone producing pituitary neoplasm" EXACT [] synonym: "pituitary gland functioning endocrine neoplasm" EXACT [MONDO:patterns/location] -synonym: "pituitary neoplasms, hormone producing" EXACT [NCIT:C7047] -synonym: "pituitary tumors, hormone producing" EXACT [DOID:5716, NCIT:C7047] +synonym: "pituitary neoplasms, hormone producing" EXACT [] +synonym: "pituitary tumors, hormone producing" EXACT [DOID:5716] synonym: "secretory pituitary tumor" RELATED [] synonym: "secretory pituitary tumour" RELATED OMO:0003005 [] -synonym: "somatotropinoma" RELATED [DOID:5716, NCIT:C7911] +synonym: "somatotropinoma" RELATED [] xref: DOID:5716 {source="MONDO:equivalentTo"} xref: ICD9:237.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:163414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -65972,9 +65974,9 @@ name: adrenal medulla cancer def: "A malignant neoplasm involving the adrenal medulla" [https://orcid.org/0000-0002-6601-2165] subset: gard_rare {source="GARD:5755", source="MONDO:GARD"} subset: rare -synonym: "adrenal medulla cancer" EXACT [MONDO:patterns/location] -synonym: "adrenal medulla neoplasm" BROAD [DOID:5719] -synonym: "adrenal medulla tumor" BROAD [DOID:5719] +synonym: "adrenal medulla cancer" EXACT [DOID:5719, MONDO:patterns/location] +synonym: "adrenal medulla neoplasm" BROAD [] +synonym: "adrenal medulla tumor" BROAD [] synonym: "adrenal medulla tumour" BROAD OMO:0003005 [] synonym: "cancer of adrenal medulla" EXACT [MONDO:patterns/cancer] synonym: "malignant adrenal medulla neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4396] @@ -66026,8 +66028,8 @@ id: MONDO:0003608 name: optic atrophy def: "A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "atrophy of optic disc" EXACT OMO:0003005 [] -synonym: "atrophy of optic disk" EXACT [DOID:5723] +synonym: "atrophy of optic disc" EXACT OMO:0003005 [DOID:5723] +synonym: "atrophy of optic disk" EXACT [] xref: DOID:5723 {source="MONDO:equivalentTo"} xref: ICD10CM:H47.2 {source="MONDO:equivalentTo", source="DOID:5723"} xref: ICD10CM:H47.20 {source="DOID:5723"} @@ -66050,7 +66052,7 @@ is_a: MONDO:0002135 {source="DOID:5723", source="MESH:D009896"} ! optic nerve di id: MONDO:0003609 name: seminal vesicle cystadenoma def: "A rare benign cystadenoma that arises from the seminal vesicle." [NCIT:C39907] -synonym: "seminal vesicle cystadenoma" EXACT [MONDO:patterns/location, NCIT:C39907] +synonym: "seminal vesicle cystadenoma" EXACT [DOID:5724, MONDO:patterns/location, NCIT:C39907] xref: DOID:5724 {source="MONDO:equivalentTo"} xref: MEDGEN:274209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39907 {source="DOID:5724", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -66064,7 +66066,7 @@ intersection_of: disease_has_location UBERON:0000998 ! seminal vesicle id: MONDO:0003610 name: rete ovarii cystadenoma def: "An exceptionally rare cystadenoma that arises from the rete ovarii." [NCIT:P378] -synonym: "rete ovarii cystadenoma" EXACT [MONDO:patterns/location] +synonym: "rete ovarii cystadenoma" EXACT [DOID:5725, MONDO:patterns/location, NCIT:C40019] xref: DOID:5725 {source="MONDO:equivalentTo"} xref: MEDGEN:308160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40019 {source="MONDO:equivalentTo", source="DOID:5725"} @@ -66078,8 +66080,8 @@ intersection_of: disease_has_location UBERON:0010185 ! rete ovarii id: MONDO:0003611 name: uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease def: "A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences." [NCIT:C40142] -synonym: "uterine ligament papillary cystadenoma" RELATED [DOID:5726] -synonym: "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease" EXACT [NCIT:C40142] +synonym: "uterine ligament papillary cystadenoma" RELATED [] +synonym: "uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease" EXACT [DOID:5726, NCIT:C40142] xref: DOID:5726 {source="MONDO:equivalentTo"} xref: MEDGEN:770964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40142 {source="MONDO:equivalentTo", source="DOID:5726"} @@ -66097,9 +66099,9 @@ def: "A primary or metastatic malignant neoplasm that affects the uterine ligame synonym: "cancer of uterine ligament" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of uterine ligament" EXACT [MONDO:patterns/cancer] synonym: "malignant uterine ligament neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C126498] -synonym: "tumor of the uterine ligament" RELATED EXCLUDE [DOID:5727] +synonym: "tumor of the uterine ligament" RELATED EXCLUDE [] synonym: "tumour of the uterine ligament" RELATED OMO:0003005 [] -synonym: "uterine ligament cancer" EXACT [MONDO:patterns/location] +synonym: "uterine ligament cancer" EXACT [DOID:5727, MONDO:patterns/location] xref: DOID:5727 {source="MONDO:equivalentTo"} xref: MEDGEN:923070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C126498 {source="MONDO:equivalentTo"} @@ -66234,14 +66236,14 @@ synonym: "disorder of the peripheral nervous system" EXACT [] synonym: "nerve disease, peripheral" NARROW [MESH:D010523] synonym: "nerve diseases, peripheral" NARROW [MESH:D010523] synonym: "neuropathy, peripheral" NARROW [MESH:D010523] -synonym: "peripheral nerve disease" NARROW [DOID:574, MESH:D010523, MTH:516, NCIT:C27580] +synonym: "peripheral nerve disease" NARROW [MESH:D010523, MTH:516] synonym: "peripheral nerve diseases" NARROW [MESH:D010523] -synonym: "peripheral nervous system disease" EXACT [MESH:D010523, MONDO:patterns/location, NCIT:C27580] +synonym: "peripheral nervous system disease" EXACT [DOID:574, MESH:D010523, MONDO:patterns/location, NCIT:C27580] synonym: "peripheral nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "peripheral nervous system disorder" EXACT [NCIT:C27580] synonym: "peripheral nervous system disorders" EXACT [MESH:D010523] synonym: "peripheral Neuropathies" NARROW [MESH:D010523] -synonym: "peripheral neuropathy" NARROW [DOID:574, MESH:D010523] +synonym: "peripheral neuropathy" NARROW [MESH:D010523] synonym: "PNS (peripheral nervous system) diseases" EXACT [MESH:D010523] synonym: "PNS disease" EXACT [MESH:D010523] synonym: "PNS diseases" EXACT [MESH:D010523] @@ -66277,9 +66279,9 @@ name: small intestinal vasoactive intestinal peptide producing tumor def: "A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "small intestinal vasoactive intestinal peptide producing tumor" EXACT [NCIT:C27455] -synonym: "small intestinal VIP producing tumor" EXACT [DOID:5740, NCIT:C27455] -synonym: "small intestinal VIP producing tumour" EXACT OMO:0003005 [] +synonym: "small intestinal vasoactive intestinal peptide producing tumor" EXACT [DOID:5740, NCIT:C27455] +synonym: "small intestinal VIP producing tumor" EXACT [DOID:5740] +synonym: "small intestinal VIP producing tumour" EXACT OMO:0003005 [DOID:5740] synonym: "small intestinal VIP-producing NET" EXACT [NCIT:C27455] synonym: "small intestinal VIP-producing neuroendocrine tumor" EXACT [NCIT:C27455] synonym: "small intestinal VIP-producing neuroendocrine tumour" EXACT OMO:0003005 [] @@ -66299,11 +66301,11 @@ def: "A usually malignant pancreatic neuroendocrine tumor producing vasoactive i subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "pancreatic vasoactive intestinal peptide producing neoplasm" EXACT [NCIT:C27454] -synonym: "pancreatic vasoactive intestinal peptide producing tumor" EXACT [NCIT:C27454] +synonym: "pancreatic vasoactive intestinal peptide producing tumor" EXACT [DOID:5741, NCIT:C27454] synonym: "pancreatic VIP producing neoplasm" EXACT [NCIT:C27454] synonym: "pancreatic VIP producing NET" EXACT [NCIT:C27454] synonym: "pancreatic VIP producing tumor" EXACT [DOID:5741, NCIT:C27454] -synonym: "pancreatic VIP producing tumour" EXACT OMO:0003005 [] +synonym: "pancreatic VIP producing tumour" EXACT OMO:0003005 [DOID:5741] synonym: "pancreatic VIP-producing neuroendocrine tumor" EXACT [NCIT:C27454] synonym: "pancreatic VIP-producing neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:5741 {source="MONDO:equivalentTo"} @@ -66326,7 +66328,7 @@ name: acinic cell breast carcinoma def: "A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation." [NCIT:C40367] subset: otar {source="MONDO:OTAR"} synonym: "acinar cell breast carcinoma" EXACT [MONDO:patterns/location] -synonym: "acinic cell breast carcinoma" EXACT [NCIT:C40367] +synonym: "acinic cell breast carcinoma" EXACT [DOID:5743, NCIT:C40367] synonym: "breast carcinoma of acinar cell" EXACT [MONDO:design_pattern] xref: DOID:5743 {source="MONDO:equivalentTo"} xref: MEDGEN:272988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -66352,7 +66354,7 @@ name: uterine ligament serous adenocarcinoma def: "A rare serous adenocarcinoma that arises from the uterine ligament." [NCIT:C40136] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "uterine ligament serous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40136] +synonym: "uterine ligament serous adenocarcinoma" EXACT [DOID:5747, MONDO:patterns/location, NCIT:C40136] xref: DOID:5747 {source="MONDO:equivalentTo"} xref: MEDGEN:275561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40136 {source="MONDO:equivalentTo", source="DOID:5747", source="MONDO:exact-label-match"} @@ -66392,9 +66394,9 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of pulmonary valve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of pulmonary valve" EXACT [] synonym: "disorder of pulmonary valve" EXACT [MONDO:patterns/location_top] -synonym: "pulmonary valve disease" EXACT [MONDO:patterns/location] +synonym: "pulmonary valve disease" EXACT [DOID:5749, MONDO:patterns/location] synonym: "pulmonary valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "pulmonary valve disorder" EXACT [DOID:5749, ICD9CM:424.3] +synonym: "pulmonary valve disorder" EXACT [DOID:5749, ICD9CM:424.3, NCIT:C78579] xref: DOID:5749 {source="MONDO:equivalentTo"} xref: EFO:0009564 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:424.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:5749"} @@ -66425,8 +66427,8 @@ subset: ordo_disorder {source="Orphanet:424073"} subset: orphanet_rare {source="Orphanet:424073"} subset: rare synonym: "pancreas serous adenocarcinoma" EXACT [MONDO:patterns/location] -synonym: "pancreatic serous cystadenocarcinoma" EXACT [NCIT:C5724, Orphanet:424073] -synonym: "serous cystadenocarcinoma of pancreas" EXACT [DOID:5751, MONDO:0018526, NCIT:C5724] +synonym: "pancreatic serous cystadenocarcinoma" EXACT [DOID:5751, NCIT:C5724, Orphanet:424073] +synonym: "serous cystadenocarcinoma of pancreas" EXACT [DOID:5751, MONDO:0018526, NCIT:C5724, Orphanet:424073] synonym: "serous cystadenocarcinoma of the pancreas" EXACT [NCIT:C5724] xref: DOID:5751 {source="MONDO:equivalentTo"} xref: GARD:21781 {source="MONDO:GARD"} @@ -66453,7 +66455,7 @@ name: cervical serous adenocarcinoma def: "A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen." [NCIT:C40201] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cervical serous adenocarcinoma" EXACT [NCIT:C40201] +synonym: "cervical serous adenocarcinoma" EXACT [DOID:5752, NCIT:C40201] xref: DOID:5752 {source="MONDO:equivalentTo"} xref: MEDGEN:308950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40201 {source="DOID:5752", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -66488,8 +66490,8 @@ intersection_of: disease_has_inflammation_site UBERON:0000458 ! endocervix id: MONDO:0003633 name: malignant mesenchymoma def: "A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." [NCIT:P378] -synonym: "mesenchymoma, malignant" EXACT [MONDO:patterns/malignant] -synonym: "mesenchymoma, malignant (morphologic abnormality)" EXACT [DOID:5758] +synonym: "mesenchymoma, malignant" EXACT [DOID:5758, MONDO:patterns/malignant, NCIT:C4268] +synonym: "mesenchymoma, malignant (morphologic abnormality)" EXACT [] xref: DOID:5758 {source="MONDO:equivalentTo"} xref: ICDO:8990/3 {source="NCIT:C4268"} xref: MEDGEN:87252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -66532,7 +66534,7 @@ name: sebaceous breast carcinoma def: "A very rare breast adenocarcinoma with sebaceous differentiation." [NCIT:C40369] synonym: "breast sebaceous adenocarcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "sebaceous adenocarcinoma of breast" EXACT [MONDO:design_pattern] -synonym: "sebaceous breast carcinoma" EXACT [NCIT:C40369] +synonym: "sebaceous breast carcinoma" EXACT [DOID:5760] xref: DOID:5760 {source="MONDO:equivalentTo"} xref: MEDGEN:276789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40369 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5760"} @@ -66572,7 +66574,7 @@ synonym: "clear cell-Sugar-tumor of lung" EXACT [NCIT:C38152] synonym: "clear cell-Sugar-tumor of the lung" EXACT [NCIT:C38152] synonym: "lung clear cell tumor" EXACT [NCIT:C38152] synonym: "lung clear cell tumour" EXACT OMO:0003005 [] -synonym: "lung clear cell-sugar-tumor" RELATED [DOID:5763] +synonym: "lung clear cell-sugar-tumor" RELATED [] synonym: "Sugar tumor" EXACT [NCIT:C38152] synonym: "Sugar tumour" EXACT OMO:0003005 [] xref: DOID:5763 {source="MONDO:equivalentTo"} @@ -66589,13 +66591,13 @@ name: lung meningioma def: "A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas." [NCIT:C5668] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "lung meningioma" EXACT [NCIT:C5668] +synonym: "lung meningioma" EXACT [DOID:5764, NCIT:C5668] synonym: "lung meningioma (disease)" EXACT [MONDO:patterns/location] synonym: "lung primary meningioma" EXACT [DOID:5764] synonym: "meningioma (disease) of lung" EXACT [] synonym: "meningioma of lung" EXACT [NCIT:C5668] synonym: "meningioma of the lung" EXACT [NCIT:C5668] -synonym: "primary pulmonary meningioma" EXACT [DOID:5764, NCIT:C5276] +synonym: "primary pulmonary meningioma" EXACT [DOID:5764] synonym: "pulmonary meningioma" EXACT [DOID:5764, NCIT:C5668] xref: DOID:5764 {source="MONDO:equivalentTo"} xref: MEDGEN:232712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -66612,7 +66614,7 @@ intersection_of: disease_has_location UBERON:0002048 ! lung id: MONDO:0003639 name: lung hilum neoplasm def: "A benign or malignant neoplasm that arises from the hilar region of the lung." [NCIT:C5671] -synonym: "hilar lung neoplasm" EXACT [NCIT:C5671] +synonym: "hilar lung neoplasm" EXACT [DOID:5767, NCIT:C5671] synonym: "hilar lung tumor" EXACT [NCIT:C5671] synonym: "hilar lung tumour" EXACT OMO:0003005 [] synonym: "lung hilum neoplasm" EXACT [NCIT:C5671] @@ -66641,8 +66643,8 @@ name: verruciform xanthoma of skin def: "A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages." [NCIT:P378] synonym: "cutaneous verruciform xanthoma" EXACT [DOID:5769, NCIT:C4478] synonym: "skin verruciform xanthoma" EXACT [NCIT:C4478] -synonym: "verruciform xanthoma" EXACT [NCIT:C4478] -synonym: "verruciform xanthoma (morphologic abnormality)" EXACT [DOID:5769] +synonym: "verruciform xanthoma" EXACT [DOID:5769, NCIT:C4478] +synonym: "verruciform xanthoma (morphologic abnormality)" EXACT [] synonym: "verruciform xanthoma of the skin" EXACT [NCIT:C4478] xref: DOID:5769 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -66664,7 +66666,7 @@ subset: rare synonym: "central nervous system haematopoietic and lymphoid system neoplasm" EXACT OMO:0003005 [] synonym: "central nervous system haematopoietic neoplasms" EXACT OMO:0003005 [] synonym: "central nervous system haematopoietic tumour" EXACT OMO:0003005 [] -synonym: "central nervous system hematologic cancer" RELATED [DOID:5772] +synonym: "central nervous system hematologic cancer" RELATED [] synonym: "central nervous system hematopoietic and lymphoid system neoplasm" EXACT [MONDO:patterns/location] synonym: "central nervous system hematopoietic neoplasm" EXACT [NCIT:C5503] synonym: "central nervous system hematopoietic neoplasms" EXACT [NCIT:C5503] @@ -66681,7 +66683,7 @@ synonym: "haematopoietic neoplasm of the CNS" EXACT OMO:0003005 [] synonym: "haematopoietic tumour of central nervous system" EXACT OMO:0003005 [] synonym: "haematopoietic tumour of the central nervous system" EXACT OMO:0003005 [] synonym: "hematopoietic and lymphoid system neoplasm of central nervous system" EXACT [MONDO:design_pattern] -synonym: "hematopoietic neoplasm of central nervous system" EXACT [DOID:5772, NCIT:C5503] +synonym: "hematopoietic neoplasm of central nervous system" EXACT [NCIT:C5503] synonym: "hematopoietic neoplasm of CNS" EXACT [NCIT:C5503] synonym: "hematopoietic neoplasm of the central nervous system" EXACT [NCIT:C5503] synonym: "hematopoietic neoplasm of the CNS" EXACT [NCIT:C5503] @@ -66712,7 +66714,7 @@ name: giant hemangioma def: "A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage." [NCIT:C27777] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "giant hemangioma" EXACT [NCIT:C27777] +synonym: "giant hemangioma" EXACT [DOID:5774, NCIT:C27777] xref: DOID:5774 {source="MONDO:equivalentTo"} xref: MEDGEN:272670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27777 {source="DOID:5774", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -66727,7 +66729,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cavernous angioma of colon" EXACT [NCIT:C5395] synonym: "cavernous angioma of the colon" EXACT [NCIT:C5395] -synonym: "cavernous hemangioma of colon" EXACT [NCIT:C5395] +synonym: "cavernous hemangioma of colon" EXACT [DOID:5775, NCIT:C5395] synonym: "cavernous hemangioma of the colon" EXACT [NCIT:C5395] synonym: "colon cavernous angioma" EXACT [NCIT:C5395] synonym: "colon cavernous hemangioma" EXACT [MONDO:patterns/location, NCIT:C5395] @@ -66752,7 +66754,7 @@ def: "A cavernous hemangioma arising from the face." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cavernous hemangioma of face" EXACT [NCIT:C7053] +synonym: "cavernous hemangioma of face" EXACT [DOID:5776, NCIT:C7053] synonym: "cavernous hemangioma of the Face" EXACT [NCIT:C7053] synonym: "face cavernous hemangioma" EXACT [MONDO:patterns/location] xref: DOID:5776 {source="MONDO:equivalentTo"} @@ -66774,16 +66776,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:100081"} subset: orphanet_rare {source="Orphanet:100081"} subset: rare -synonym: "NET of the rectum" RELATED [https://orcid.org/0000-0002-0587-4693, Orphanet:100081] +synonym: "NET of the rectum" RELATED [https://orcid.org/0000-0002-0587-4693] synonym: "neuroendocrine neoplasm of rectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5698] synonym: "neuroendocrine neoplasm of the rectum" EXACT [NCIT:C5698] -synonym: "neuroendocrine tumor of rectum" RELATED [DOID:5777, https://orcid.org/0000-0002-0587-4693] +synonym: "neuroendocrine tumor of rectum" RELATED [https://orcid.org/0000-0002-0587-4693] synonym: "neuroendocrine tumour of rectum" RELATED OMO:0003005 [https://orcid.org/0000-0002-0587-4693] -synonym: "rectal NET" RELATED [https://orcid.org/0000-0002-0587-4693, Orphanet:100081] +synonym: "rectal NET" RELATED [https://orcid.org/0000-0002-0587-4693] synonym: "rectal neuroendocrine neoplasm" EXACT [NCIT:C5698] -synonym: "rectal neuroendocrine tumor" RELATED [https://orcid.org/0000-0002-0587-4693, Orphanet:100081] +synonym: "rectal neuroendocrine tumor" RELATED [https://orcid.org/0000-0002-0587-4693] synonym: "rectum NET" RELATED [https://orcid.org/0000-0002-0587-4693, MONDO:patterns/neuroendocrine_neoplasm] -synonym: "rectum neuroendocrine neoplasm" EXACT [MONDO:patterns/location] +synonym: "rectum neuroendocrine neoplasm" EXACT [DOID:5777, MONDO:patterns/location] synonym: "rectum neuroendocrine tumor" RELATED [https://orcid.org/0000-0002-0587-4693, MONDO:patterns/location, MONDO:patterns/neuroendocrine_neoplasm] synonym: "rectum neuroendocrine tumor, well differentiated, low or intermediate grade" RELATED [https://orcid.org/0000-0002-0587-4693, MONDO:patterns/neuroendocrine_neoplasm] synonym: "rectum neuroendocrine tumour" RELATED OMO:0003005 [https://orcid.org/0000-0002-0587-4693] @@ -66822,7 +66824,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of tympanic membrane" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of tympanic membrane" EXACT [] synonym: "disorder of tympanic membrane" EXACT [MONDO:patterns/location_top] -synonym: "tympanic membrane disease" EXACT [MONDO:patterns/location] +synonym: "tympanic membrane disease" EXACT [DOID:5782, MONDO:patterns/location] synonym: "tympanic membrane disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:5782 {source="MONDO:equivalentTo"} xref: EFO:0009570 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -66850,9 +66852,9 @@ subset: rare synonym: "esophageal NEN" EXACT [Orphanet:506136] synonym: "esophageal NET" EXACT [NCIT:C95616] synonym: "esophageal neuroendocrine neoplasm" EXACT [Orphanet:506136] -synonym: "esophageal neuroendocrine tumor" EXACT [NCIT:C95616] -synonym: "esophageal well differentiated endocrine tumor" EXACT [NCIT:C95616] -synonym: "esophageal well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C95616] +synonym: "esophageal neuroendocrine tumor" EXACT [DOID:5784, NCIT:C95616] +synonym: "esophageal well differentiated endocrine tumor" EXACT [] +synonym: "esophageal well differentiated endocrine tumor/carcinoma" EXACT [] synonym: "esophageal well differentiated endocrine tumour" EXACT OMO:0003005 [] synonym: "esophagus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "esophagus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] @@ -66862,8 +66864,8 @@ synonym: "NEN of esophagus" EXACT [Orphanet:506136] synonym: "NEN of oesophagus" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of esophagus" EXACT [MONDO:patterns/neuroendocrine_neoplasm, Orphanet:506136] synonym: "neuroendocrine neoplasm of oesophagus" EXACT OMO:0003005 [] -synonym: "neuroendocrine tumor of esophagus" EXACT [DOID:5784, NCIT:C5821] -synonym: "neuroendocrine tumour of oesophagus" EXACT OMO:0003005 [] +synonym: "neuroendocrine tumor of esophagus" EXACT [DOID:5784] +synonym: "neuroendocrine tumour of oesophagus" EXACT OMO:0003005 [DOID:5784] synonym: "oesophagus NET" EXACT OMO:0003005 [] synonym: "oesophagus neuroendocrine neoplasm" EXACT OMO:0003005 [] synonym: "oesophagus neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT OMO:0003005 [] @@ -66886,7 +66888,7 @@ name: mixed hepatoblastoma def: "A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mixed epithelial and mesenchymal hepatoblastoma" EXACT [DOID:5789] +synonym: "mixed epithelial and mesenchymal hepatoblastoma" EXACT [DOID:5789, NCIT:C7097] xref: DOID:5789 {source="MONDO:equivalentTo"} xref: ICDO:8970/3 {source="NCIT:C7097"} xref: MEDGEN:233194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -66910,8 +66912,8 @@ is_a: MONDO:0018666 {source="DOID:5798", source="NCIT:C7095"} ! hepatoblastoma id: MONDO:0003652 name: acute urate nephropathy def: "Urolithiasis in which the composition of the stones is predominantly urate." [NCIT:P378] -synonym: "uric acid nephrolithiasis" EXACT [DOID:580, ICD9CM:274.11] -synonym: "uric acid urolithiasis" EXACT [DOID:580] +synonym: "uric acid nephrolithiasis" EXACT [DOID:580, ICD9CM:274.11, NCIT:C123037] +synonym: "uric acid urolithiasis" EXACT [] xref: DOID:580 {source="MONDO:equivalentTo"} xref: icd11.foundation:1011901523 {source="MONDO:equivalentTo"} xref: ICD9:274.11 {source="DOID:580"} @@ -66935,7 +66937,7 @@ name: stork bite subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Salmon patch nevus" EXACT [DOID:5806] -synonym: "Unna's nevus" EXACT [DOID:5806, NCIT:C4399] +synonym: "Unna's nevus" EXACT [DOID:5806] xref: DOID:5806 {source="MONDO:equivalentTo"} xref: MEDGEN:870384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:254211001 {source="MONDO:equivalentTo"} @@ -66949,7 +66951,7 @@ name: childhood parosteal osteosarcoma def: "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent." [NCIT:C6589] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood parosteal osteogenic sarcoma" EXACT [NCIT:C6589] +synonym: "childhood parosteal osteogenic sarcoma" EXACT [DOID:5809, NCIT:C6589] synonym: "childhood parosteal osteosarcoma" EXACT [NCIT:C6589] xref: DOID:5809 {source="MONDO:equivalentTo"} xref: MEDGEN:272467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -66967,9 +66969,9 @@ def: "A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "brain primary lymphoma" EXACT [DOID:5815] -synonym: "cerebral lymphoma" EXACT [NCIT:C7611] -synonym: "primary cerebral lymphoma" EXACT [NCIT:C7611] -synonym: "primary lymphoma of cerebrum" EXACT [DOID:5815, NCIT:C3883, NCIT:C7611] +synonym: "cerebral lymphoma" EXACT [DOID:5815, NCIT:C7611] +synonym: "primary cerebral lymphoma" EXACT [DOID:5815, NCIT:C7611] +synonym: "primary lymphoma of cerebrum" EXACT [DOID:5815, NCIT:C7611] synonym: "primary lymphoma of the cerebrum" EXACT [NCIT:C7611] synonym: "primary lymphoma, brain" EXACT [NCIT:C7611] xref: DOID:5815 {source="MONDO:equivalentTo"} @@ -67014,7 +67016,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma" EXACT [NCIT:C37869] synonym: "B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma" EXACT [NCIT:C37869] -synonym: "Gray zone lymphoma" EXACT [NCIT:C37869] +synonym: "Gray zone lymphoma" EXACT [DOID:5822, NCIT:C37869] synonym: "Grey zone lymphoma" EXACT OMO:0003005 [] synonym: "Hodgkin-like anaplastic large cell lymphoma" EXACT [NCIT:C37869] synonym: "large B-cell lymphoma with Hodgkin features" EXACT [NCIT:C37869] @@ -67034,9 +67036,9 @@ def: "A Hodgkin or non-Hodgkin lymphoma that occurs during childhood." [NCIT:P37 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "childhood lymphoma" EXACT [NCIT:C5165] -synonym: "lymphoma" BROAD [NCIT:C5165] -synonym: "pediatric lymphoma" EXACT [NCIT:C5165] +synonym: "childhood lymphoma" EXACT [DOID:5823, NCIT:C5165] +synonym: "lymphoma" BROAD [] +synonym: "pediatric lymphoma" EXACT [DOID:5823, NCIT:C5165] xref: DOID:5823 {source="MONDO:equivalentTo"} xref: MEDGEN:232062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2100004 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -67054,8 +67056,8 @@ def: "A lymphoma that occurs in an adult." [MONDO:design_pattern] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult lymphoma" EXACT [NCIT:C7587] -synonym: "lymphoma" BROAD [NCIT:C7587] +synonym: "adult lymphoma" EXACT [DOID:5825, NCIT:C7587] +synonym: "lymphoma" BROAD [] synonym: "lymphoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:5825 {source="MONDO:equivalentTo"} xref: MEDGEN:233965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -67073,7 +67075,7 @@ def: "A lymphoma that arises from the breast. There is no history of extramammar subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "breast lymphoma" EXACT [MONDO:patterns/location, NCIT:C4671] +synonym: "breast lymphoma" EXACT [DOID:5826, MONDO:patterns/location, NCIT:C4671] synonym: "lymphoma of breast" EXACT [DOID:5826, NCIT:C4671] synonym: "lymphoma of the breast" EXACT [DOID:5826, NCIT:C4671] synonym: "malignant lymphoma of breast" EXACT [DOID:5826] @@ -67101,7 +67103,7 @@ def: "A rare endometrioid adenocarcinoma that arises from the uterine ligament. subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "endometrioid adenocarcinoma of uterine ligament" EXACT [MONDO:design_pattern] -synonym: "uterine ligament endometrioid adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40138] +synonym: "uterine ligament endometrioid adenocarcinoma" EXACT [DOID:5829, MONDO:patterns/location] xref: DOID:5829 {source="MONDO:equivalentTo"} xref: NCIT:C40138 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:5829"} is_a: MONDO:0002741 {source="DOID:5829", source="MONDO:Redundant", source="NCIT:C40138"} ! uterine ligament adenocarcinoma @@ -67117,8 +67119,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "anaemia hemolytic" EXACT OMO:0003005 [] synonym: "anemia hemolytic" EXACT [DOID:583, MTH:NOCODE] -synonym: "anemia, hemolytic" EXACT [NCIT:C34376] -synonym: "hemolytic anemia" EXACT [NCIT:C34376] +synonym: "anemia, hemolytic" EXACT [] +synonym: "hemolytic anemia" EXACT [DOID:583, NCIT:C34376] xref: DOID:583 {source="MONDO:equivalentTo"} xref: ICD10CM:D55-D59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:583", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MEDGEN:1916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -67138,7 +67140,7 @@ def: "A cervical adenocarcinoma with the histologic characteristics of the endom subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cervical endometrioid adenocarcinoma" EXACT [NCIT:C6343] +synonym: "cervical endometrioid adenocarcinoma" EXACT [DOID:5830, NCIT:C6343] synonym: "cervical endometrioid carcinoma" EXACT [NCIT:C6343] synonym: "cervix endometrioid adenocarcinoma" EXACT [NCIT:C6343] synonym: "cervix endometrioid carcinoma" EXACT [NCIT:C6343] @@ -67180,7 +67182,7 @@ synonym: "endometrioid adenocarcinoma of fallopian tube" EXACT [NCIT:C6279] synonym: "endometrioid adenocarcinoma of the fallopian tube" EXACT [NCIT:C6279] synonym: "endometrioid carcinoma of fallopian tube" EXACT [NCIT:C6279] synonym: "endometrioid carcinoma of the fallopian tube" EXACT [DOID:5831, NCIT:C6279] -synonym: "fallopian tube endometrioid adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6279] +synonym: "fallopian tube endometrioid adenocarcinoma" EXACT [DOID:5831, MONDO:patterns/location, NCIT:C6279] synonym: "fallopian tube endometrioid cancer" EXACT [DOID:5831] synonym: "fallopian tube endometrioid carcinoma" EXACT [NCIT:C6279] synonym: "fallopian tube endometrioid neoplasm" RELATED [DOID:5831] @@ -67207,7 +67209,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "extragonadal primary seminoma" EXACT [NCIT:C7327] -synonym: "extragonadal seminoma" EXACT [NCIT:C7327] +synonym: "extragonadal seminoma" EXACT [DOID:5838, NCIT:C7327] synonym: "primary extragonadal seminoma" EXACT [DOID:5838, NCIT:C7327] xref: DOID:5838 {source="MONDO:equivalentTo"} xref: MEDGEN:234243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -67234,9 +67236,9 @@ synonym: "seminomatous germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "testicular seminoma" EXACT [MONDO:ambiguous, NCIT:C7328, Orphanet:842] synonym: "testicular seminoma (disease)" EXACT [MONDO:0005245] synonym: "testicular seminoma Pure" EXACT [DOID:5842, NCIT:C7328] -synonym: "testicular seminomatous germ cell tumor" EXACT [MONDO:0019400] +synonym: "testicular seminomatous germ cell tumor" EXACT [MONDO:0019400, Orphanet:842] synonym: "testicular seminomatous germ cell tumour" EXACT OMO:0003005 [] -synonym: "testis seminoma" EXACT [MONDO:patterns/location] +synonym: "testis seminoma" EXACT [DOID:5842, MONDO:patterns/location] xref: DOID:5842 {source="MONDO:equivalentTo"} xref: EFO:0003101 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:4792 {source="MONDO:GARD"} @@ -67269,8 +67271,8 @@ id: MONDO:0003670 name: posteroinferior myocardial infarction def: "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart." [NCIT:C36068] comment: Editor note: TODO: positional superclass -synonym: "posteroinferior myocardial infarction by ECG finding" EXACT [NCIT:C36068] -synonym: "posteroinferior myocardial infarction by EKG finding" EXACT [NCIT:C36068] +synonym: "posteroinferior myocardial infarction by ECG finding" EXACT [] +synonym: "posteroinferior myocardial infarction by EKG finding" EXACT [] xref: DOID:5843 {source="MONDO:equivalentTo"} xref: MEDGEN:216044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C36068 {source="DOID:5843", source="MONDO:otherHierarchy"} @@ -67387,8 +67389,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chondrosarcoma (disease) of periosteum" EXACT [] -synonym: "juxtacortical chondrosarcoma" EXACT [NCIT:C7357] -synonym: "juxtacortical chondrosarcoma (morphologic abnormality)" EXACT [DOID:5866] +synonym: "juxtacortical chondrosarcoma" EXACT [DOID:5866, NCIT:C7357] +synonym: "juxtacortical chondrosarcoma (morphologic abnormality)" EXACT [] synonym: "periosteal chondrosarcoma" EXACT [DOID:5859, NCIT:C7357] synonym: "periosteum chondrosarcoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:5859 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -67411,7 +67413,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MYCHS" RELATED ABBREVIATION [ONCOTREE:MYCHS] -synonym: "myxoid chondrosarcoma" EXACT [NCIT:C4303] +synonym: "myxoid chondrosarcoma" EXACT [DOID:5861] xref: DOID:5861 {source="MONDO:equivalentTo"} xref: ICDO:9231/3 {source="NCIT:C4303"} xref: MEDGEN:87262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -67430,7 +67432,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "chondrosarcoma, localised" EXACT OMO:0003005 [] synonym: "chondrosarcoma, localized" EXACT [NCIT:C8778] -synonym: "localized chondrosarcoma" EXACT [NCIT:C8778] +synonym: "localized chondrosarcoma" EXACT [DOID:5862, NCIT:C8778] xref: DOID:5862 {source="MONDO:equivalentTo"} xref: MEDGEN:163180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8778 {source="DOID:5862", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -67446,7 +67448,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "clear cell chondrosarcoma" EXACT [DOID:5867, NCIT:C6475] -synonym: "clear cell chondrosarcoma (morphologic abnormality)" EXACT [DOID:5867] +synonym: "clear cell chondrosarcoma (morphologic abnormality)" EXACT [] xref: DOID:5867 {source="MONDO:equivalentTo"} xref: ICDO:9242/3 {source="NCIT:C6475"} xref: MEDGEN:226848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -67515,7 +67517,7 @@ id: MONDO:0003687 name: endocardium cancer def: "A malignant neoplasm involving the endocardium." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of endocardium" EXACT [MONDO:patterns/cancer] -synonym: "endocardium cancer" EXACT [MONDO:patterns/location] +synonym: "endocardium cancer" EXACT [DOID:5877, MONDO:patterns/location] synonym: "malignant endocardial neoplasm" EXACT [NCIT:C4570] synonym: "malignant endocardial tumor" EXACT [DOID:5877, NCIT:C4570] synonym: "malignant endocardial tumour" EXACT OMO:0003005 [] @@ -67545,10 +67547,10 @@ id: MONDO:0003688 name: well differentiated papillary mesothelioma def: "A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "benign intermediate mesothelioma" RELATED [DOID:5884] -synonym: "benign/Intermediate mesothelioma" EXACT [NCIT:C7635] -synonym: "WDPM" EXACT ABBREVIATION [NCIT:C7635] -synonym: "well differentiated papillary mesothelioma" EXACT [NCIT:C7635] +synonym: "benign intermediate mesothelioma" RELATED [] +synonym: "benign/Intermediate mesothelioma" EXACT [] +synonym: "WDPM" EXACT ABBREVIATION [] +synonym: "well differentiated papillary mesothelioma" EXACT [] synonym: "well-differentiated mesothelial papillary neoplasm" EXACT [NCIT:C7635] synonym: "well-differentiated mesothelial papillary tumor" EXACT [NCIT:C7635] synonym: "well-differentiated mesothelial papillary tumour" EXACT OMO:0003005 [] @@ -67574,9 +67576,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anaemia hemolytic congenital" RELATED OMO:0003005 [] synonym: "anemia hemolytic congenital" RELATED [GARD:0006167] -synonym: "congenital hemolytic anaemia" EXACT OMO:0003005 [] -synonym: "congenital hemolytic anemia" EXACT [NCIT:C34379] -synonym: "hereditary hemolytic anaemia" EXACT OMO:0003005 [] +synonym: "congenital hemolytic anaemia" EXACT OMO:0003005 [DOID:589] +synonym: "congenital hemolytic anemia" EXACT [DOID:589, NCIT:C34379] +synonym: "hereditary hemolytic anaemia" EXACT OMO:0003005 [DOID:589] synonym: "hereditary hemolytic anemia" EXACT [DOID:589, MONDO:patterns/hereditary, NCIT:C34379] xref: DOID:589 {source="MONDO:equivalentTo"} xref: GARD:6167 {source="MONDO:GARD"} @@ -67608,9 +67610,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult anaplastic ependymoma" EXACT [NCIT:C8269] synonym: "adult malignant ependymoma" EXACT [NCIT:C8269] -synonym: "anaplastic ependymoma" BROAD [NCIT:C8269] +synonym: "anaplastic ependymoma" BROAD [] synonym: "anaplastic ependymoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] -synonym: "malignant adult ependymoma" EXACT [NCIT:C8269] +synonym: "malignant adult ependymoma" EXACT [DOID:5890, NCIT:C8269] xref: DOID:5890 {source="MONDO:equivalentTo"} xref: MEDGEN:83709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8269 {source="MONDO:equivalentTo", source="DOID:5890"} @@ -67624,8 +67626,8 @@ intersection_of: has_characteristic HP:0003581 ! Adult onset id: MONDO:0003691 name: childhood malignant mesenchymoma def: "A malignant mesenchymoma occurring in children." [NCIT:C8097] -synonym: "childhood malignant mesenchymoma" EXACT [NCIT:C8097] -synonym: "malignant mesenchymoma" BROAD [NCIT:C8097] +synonym: "childhood malignant mesenchymoma" EXACT [DOID:5893, NCIT:C8097] +synonym: "malignant mesenchymoma" BROAD [] synonym: "malignant mesenchymoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric malignant mesenchymoma" EXACT OMO:0003005 [] synonym: "pediatric malignant mesenchymoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] @@ -67641,8 +67643,8 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0003692 name: adult malignant mesenchymoma def: "A malignant mesenchymoma occurring in adults." [NCIT:C7947] -synonym: "adult malignant mesenchymoma" EXACT [NCIT:C7947] -synonym: "malignant mesenchymoma" BROAD [NCIT:C7947] +synonym: "adult malignant mesenchymoma" EXACT [DOID:5894, NCIT:C7947] +synonym: "malignant mesenchymoma" BROAD [] synonym: "malignant mesenchymoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:5894 {source="MONDO:equivalentTo"} xref: MEDGEN:83523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -67672,7 +67674,7 @@ id: MONDO:0003694 name: ovarian clear cell cystadenofibroma def: "A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures." [NCIT:C40086] synonym: "clear cell cystadenofibroma of ovary" EXACT [MONDO:design_pattern] -synonym: "ovarian clear cell cystadenofibroma" EXACT [NCIT:C40086] +synonym: "ovarian clear cell cystadenofibroma" EXACT [DOID:5896, NCIT:C40086] synonym: "ovary clear cell cystadenofibroma" EXACT [MONDO:patterns/location] xref: DOID:5896 {source="MONDO:equivalentTo"} xref: MEDGEN:275283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -67688,7 +67690,7 @@ id: MONDO:0003695 name: ovarian clear cell adenofibroma def: "An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma." [NCIT:C40085] synonym: "clear cell adenofibroma of ovary" EXACT [MONDO:design_pattern] -synonym: "ovarian clear cell adenofibroma" EXACT [NCIT:C40085] +synonym: "ovarian clear cell adenofibroma" EXACT [DOID:5897, NCIT:C40085] synonym: "ovary clear cell adenofibroma" EXACT [MONDO:patterns/location] xref: DOID:5897 {source="MONDO:equivalentTo"} xref: MEDGEN:309502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -67713,7 +67715,7 @@ subset: rare synonym: "non-invasive penile verrucous carcinoma" EXACT [DOID:5907, NCIT:C27791] synonym: "non-invasive verrucous carcinoma of penis" EXACT [NCIT:C27791] synonym: "non-invasive verrucous carcinoma of the penis" EXACT [NCIT:C27791] -synonym: "penis non-invasive verrucous carcinoma" RELATED [DOID:5907] +synonym: "penis non-invasive verrucous carcinoma" RELATED [] xref: DOID:5907 {source="MONDO:equivalentTo"} xref: MEDGEN:233765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27791 {source="MONDO:equivalentTo", source="DOID:5907"} @@ -67729,7 +67731,7 @@ def: "A slow growing, locally recurring, very well differentiated papillary squa subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "penis verrucous carcinoma" EXACT [MONDO:patterns/location] +synonym: "penis verrucous carcinoma" EXACT [DOID:5908, MONDO:patterns/location] synonym: "squamous carcinoma of penis, verrucous type" EXACT [NCIT:C6982] synonym: "squamous carcinoma of the penis, verrucous type" EXACT [NCIT:C6982] synonym: "verrucous carcinoma of penis" EXACT [NCIT:C6982] @@ -67790,7 +67792,7 @@ synonym: "brachial nerve plexus neoplasm" EXACT [] synonym: "brachial nerve plexus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "brachial nerve plexus tumor" EXACT [MONDO:patterns/neoplasm] synonym: "brachial nerve plexus tumour" EXACT OMO:0003005 [] -synonym: "brachial plexus neoplasm" EXACT [NCIT:C5823] +synonym: "brachial plexus neoplasm" EXACT [DOID:5913, NCIT:C5823] synonym: "brachial plexus neoplasms" EXACT [NCIT:C5823] synonym: "brachial plexus tumor" EXACT [NCIT:C5823] synonym: "brachial plexus tumour" EXACT OMO:0003005 [] @@ -67818,7 +67820,7 @@ def: "A morphologic variant of papillary carcinoma of the thyroid gland that mor subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "nonencapsulated sclerosing adenocarcinoma" EXACT [NCIT:C7427] -synonym: "nonencapsulated sclerosing carcinoma" EXACT [NCIT:C7427] +synonym: "nonencapsulated sclerosing carcinoma" EXACT [DOID:5914, NCIT:C7427] synonym: "nonencapsulated sclerosing neoplasm" EXACT [DOID:5914, NCIT:C7427] synonym: "nonencapsulated sclerosing papillary thyroid carcinoma" EXACT [NCIT:C7427] synonym: "nonencapsulated sclerosing tumor" EXACT [NCIT:C7427] @@ -67864,8 +67866,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "body of uterus leiomyomatosis" EXACT [MONDO:patterns/location] synonym: "leiomyomatosis of body of uterus" EXACT [MONDO:design_pattern] -synonym: "uterine corpus diffuse leiomyomatosis" EXACT [NCIT:C40170] -synonym: "uterine corpus leiomyomatosis" EXACT [MONDO:0003703] +synonym: "uterine corpus diffuse leiomyomatosis" EXACT [DOID:5917, NCIT:C40170] +synonym: "uterine corpus leiomyomatosis" EXACT [DOID:5916, MONDO:0003703] xref: DOID:5916 {source="MONDO:equivalentTo"} xref: DOID:5917 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MEDGEN:275556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -67884,7 +67886,7 @@ name: adult brainstem mixed glioma subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult brain stem mixed glioma" EXACT [DOID:5921, NCIT:C9371] -synonym: "adult brainstem mixed glioma" EXACT [NCIT:C9371] +synonym: "adult brainstem mixed glioma" EXACT [DOID:5921, NCIT:C9371] xref: DOID:5921 {source="MONDO:equivalentTo"} xref: MEDGEN:237180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9371 {source="MONDO:equivalentTo", source="DOID:5921"} @@ -67897,7 +67899,7 @@ name: adult brainstem astrocytoma subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult brain stem astrocytoma" EXACT [NCIT:C6954] -synonym: "adult brainstem astrocytoma" EXACT [NCIT:C6954] +synonym: "adult brainstem astrocytoma" EXACT [DOID:5922, NCIT:C6954] xref: DOID:5922 {source="MONDO:equivalentTo"} xref: MEDGEN:233962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6954 {source="DOID:5922", source="MONDO:equivalentTo"} @@ -67912,11 +67914,11 @@ name: distal biliary tract carcinoma def: "A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "carcinoma of distal biliary tract" EXACT [NCIT:C7109] -synonym: "carcinoma of the distal biliary tract" EXACT [DOID:5923, NCIT:C7109] -synonym: "distal bile duct cancer" EXACT [NCIT:C7109] +synonym: "carcinoma of distal biliary tract" EXACT [] +synonym: "carcinoma of the distal biliary tract" EXACT [DOID:5923] +synonym: "distal bile duct cancer" EXACT [] synonym: "distal bile duct carcinoma" EXACT [NCIT:C7109] -synonym: "distal biliary tract carcinoma" EXACT [NCIT:C7109] +synonym: "distal biliary tract carcinoma" EXACT [DOID:5923] synonym: "extrahepatic (distal) bile duct cancer" EXACT [NCIT:C7109] xref: DOID:5923 {source="MONDO:equivalentTo"} xref: MEDGEN:232133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -67953,7 +67955,7 @@ name: agoraphobia def: "An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "fear of open spaces" EXACT [DOID:593] -synonym: "fear of open spaces (finding)" EXACT [DOID:593] +synonym: "fear of open spaces (finding)" EXACT [] xref: DOID:593 {source="MONDO:equivalentTo"} xref: EFO:1001872 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F40.0 {source="MONDO:equivalentTo", source="DOID:593"} @@ -67984,7 +67986,7 @@ synonym: "mixed germ cell tumor of the ovary" EXACT [NCIT:C8114] synonym: "mixed germ cell tumour" RELATED OMO:0003005 [] synonym: "mixed germ cell tumour of ovary" EXACT OMO:0003005 [] synonym: "mixed germ cell tumour of the ovary" EXACT OMO:0003005 [] -synonym: "ovarian mixed germ cell neoplasm" EXACT [NCIT:C8114] +synonym: "ovarian mixed germ cell neoplasm" EXACT [DOID:5936, NCIT:C8114] synonym: "ovarian mixed germ cell tumor" EXACT [NCIT:C8114] synonym: "ovarian mixed germ cell tumour" EXACT OMO:0003005 [] synonym: "ovary mixed germ cell tumor" EXACT [MONDO:patterns/location] @@ -68031,7 +68033,7 @@ is_a: MONDO:0003143 {source="NCIT:C7751", source="icd11.foundation:225334653"} ! [Term] id: MONDO:0003714 name: bladder urachal squamous cell carcinoma -synonym: "bladder urachal squamous cell carcinoma" EXACT [NCIT:C39845] +synonym: "bladder urachal squamous cell carcinoma" EXACT [DOID:5957, NCIT:C39845] xref: DOID:5957 {source="MONDO:equivalentTo"} xref: MEDGEN:307289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39845 {source="MONDO:equivalentTo", source="DOID:5957", source="MONDO:exact-label-match"} @@ -68047,7 +68049,7 @@ name: bladder urachal carcinoma def: "Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer." [GARD:0007836] subset: otar {source="MONDO:OTAR"} synonym: "bladder urachal cancer" EXACT [NCIT:C39842] -synonym: "bladder urachal carcinoma" EXACT [NCIT:C39842] +synonym: "bladder urachal carcinoma" EXACT [DOID:5958, NCIT:C39842] synonym: "urachal carcinoma" RELATED [GARD:0007836, ONCOTREE:URCA] xref: DOID:5958 {source="MONDO:equivalentTo"} xref: MEDGEN:419015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -68065,7 +68067,7 @@ name: renal pelvis papillary urothelial carcinoma def: "A papillary transitional cell carcinoma that arises from the renal pelvis." [NCIT:C6148, NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "kidney pelvis papillary carcinoma" EXACT [NCIT:C6148] +synonym: "kidney pelvis papillary carcinoma" EXACT [DOID:5973, NCIT:C6148] synonym: "papillary carcinoma of kidney pelvis" EXACT [NCIT:C6148] synonym: "papillary carcinoma of renal pelvis" EXACT [DOID:5973, NCIT:C6148] synonym: "papillary carcinoma of the kidney pelvis" EXACT [NCIT:C6148] @@ -68093,7 +68095,7 @@ synonym: "papillary tumor of renal pelvis" EXACT [NCIT:C8603] synonym: "papillary tumor of the renal pelvis" EXACT [NCIT:C8603] synonym: "papillary tumour of renal pelvis" EXACT OMO:0003005 [] synonym: "papillary tumour of the renal pelvis" EXACT OMO:0003005 [] -synonym: "renal pelvis papillary tumor" EXACT [NCIT:C8603] +synonym: "renal pelvis papillary tumor" EXACT [DOID:5975, NCIT:C8603] synonym: "renal pelvis papillary urothelial neoplasm" EXACT [NCIT:C8603] xref: DOID:5975 {source="MONDO:equivalentTo"} xref: MEDGEN:163120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -68130,7 +68132,7 @@ synonym: "kidney pelvis neoplasm" EXACT [NCIT:C8404] synonym: "kidney pelvis tumor" EXACT [NCIT:C8404] synonym: "kidney pelvis tumour" EXACT OMO:0003005 [] synonym: "neoplasm of kidney pelvis" EXACT [NCIT:C8404] -synonym: "neoplasm of renal pelvis" EXACT [MONDO:patterns/neoplasm, NCIT:C8404] +synonym: "neoplasm of renal pelvis" EXACT [DOID:5977, MONDO:patterns/neoplasm, NCIT:C8404] synonym: "neoplasm of the kidney pelvis" EXACT [NCIT:C8404] synonym: "neoplasm of the renal pelvis" EXACT [NCIT:C8404] synonym: "renal pelvis neoplasm" EXACT [NCIT:C8404] @@ -68138,7 +68140,7 @@ synonym: "renal pelvis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "renal pelvis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C8404] synonym: "renal pelvis tumour" EXACT OMO:0003005 [] synonym: "tumor of kidney pelvis" EXACT [DOID:5977, NCIT:C8404] -synonym: "tumor of renal pelvis" EXACT [MONDO:patterns/neoplasm, NCIT:C8404] +synonym: "tumor of renal pelvis" EXACT [DOID:5977, MONDO:patterns/neoplasm, NCIT:C8404] synonym: "tumor of the kidney pelvis" EXACT [NCIT:C8404] synonym: "tumor of the renal pelvis" EXACT [NCIT:C8404] synonym: "tumour of kidney pelvis" EXACT OMO:0003005 [] @@ -68164,7 +68166,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "fibrosarcoma of kidney" EXACT [NCIT:C7726] synonym: "fibrosarcoma of the kidney" EXACT [DOID:5982, NCIT:C7726] -synonym: "kidney fibrosarcoma" EXACT [NCIT:C7726] +synonym: "kidney fibrosarcoma" EXACT [DOID:5982, NCIT:C7726] synonym: "kidney fibrosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "renal fibrosarcoma" EXACT [NCIT:C7726] xref: DOID:5982 {source="MONDO:equivalentTo"} @@ -68183,7 +68185,7 @@ def: "An osteosarcoma arising from the kidney." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "kidney extraskeletal osteosarcoma" EXACT [NCIT:C6181] -synonym: "kidney osteogenic sarcoma" EXACT [NCIT:C6181] +synonym: "kidney osteogenic sarcoma" EXACT [DOID:5983, NCIT:C6181] synonym: "kidney osteosarcoma" EXACT [NCIT:C6181] synonym: "kidney osteosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "osteogenic sarcoma of kidney" EXACT [NCIT:C6181] @@ -68227,8 +68229,8 @@ relationship: excluded_subClassOf MONDO:0004532 {source="DOID:5990", source="htt id: MONDO:0003723 name: blunt duct adenosis of breast def: "Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia." [NCIT:P378] -synonym: "blunt duct adenosis of the breast" EXACT [NCIT:C6941] -synonym: "breast blunt duct adenosis" EXACT [NCIT:C6941] +synonym: "blunt duct adenosis of the breast" EXACT [] +synonym: "breast blunt duct adenosis" EXACT [] xref: DOID:5996 {source="MONDO:equivalentObsolete"} xref: NCIT:C6941 {source="MONDO:equivalentObsolete", source="DOID:5996"} is_a: MONDO:0003724 {source="NCIT:C6941"} ! non-proliferative fibrocystic change of the breast @@ -68252,12 +68254,12 @@ id: MONDO:0003725 name: breast adenosis def: "A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis." [NCIT:C3484] subset: otar {source="MONDO:OTAR"} -synonym: "adenosis" BROAD [NCIT:C3484] +synonym: "adenosis" BROAD [] synonym: "adenosis - breast" EXACT [DOID:5998] synonym: "adenosis of breast" EXACT [NCIT:C3484] synonym: "adenosis of the breast" EXACT [DOID:5998, NCIT:C3484] synonym: "breast adenosis" EXACT [NCIT:C3484] -synonym: "microglandular adenosis" RELATED [DOID:5998] +synonym: "microglandular adenosis" RELATED [] xref: DOID:5998 {source="MONDO:equivalentTo"} xref: EFO:0006891 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:39336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -68273,7 +68275,7 @@ relationship: disease_has_location UBERON:0000310 ! breast id: MONDO:0003726 name: apocrine adenosis of breast def: "Breast adenosis characterized by the presence of extensive apocrine metaplasia." [NCIT:C5198] -synonym: "apocrine adenosis of breast" EXACT [NCIT:C5198] +synonym: "apocrine adenosis of breast" EXACT [DOID:5999, NCIT:C5198] synonym: "apocrine adenosis of the breast" EXACT [DOID:5999, NCIT:C5198] synonym: "breast apocrine adenosis" EXACT [NCIT:C5198] xref: DOID:5999 {source="MONDO:equivalentTo"} @@ -68289,9 +68291,9 @@ name: animal phobia def: "An overwhelming, irrational, and persistent fear of animals." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "fear of animals" EXACT [DOID:600] -synonym: "fear of animals (finding)" EXACT [DOID:600] +synonym: "fear of animals (finding)" EXACT [] synonym: "zoophobia" EXACT [DOID:600] -synonym: "zoophobia (finding)" EXACT [DOID:600] +synonym: "zoophobia (finding)" EXACT [] xref: DOID:600 {source="MONDO:equivalentTo"} xref: EFO:1001876 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:65440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -68307,7 +68309,7 @@ name: breast fibrosarcoma def: "A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:C5185] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "breast fibrosarcoma" EXACT [NCIT:C5185] +synonym: "breast fibrosarcoma" EXACT [DOID:6001, NCIT:C5185] synonym: "breast fibrosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "fibrosarcoma of breast" EXACT [NCIT:C5185] synonym: "fibrosarcoma of the breast" EXACT [DOID:6001, NCIT:C5185] @@ -68327,7 +68329,7 @@ def: "Infiltration of the skin and subcutaneous tissue by leukemic cells without subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aleukemic leukemia cutis" EXACT [NCIT:C4983] +synonym: "aleukemic leukemia cutis" EXACT [DOID:6003, NCIT:C4983] synonym: "leukaemia subleukemic" RELATED OMO:0003005 [] synonym: "leukemia subleukemic" RELATED [GARD:0006892] xref: DOID:6003 {source="MONDO:equivalentTo"} @@ -68342,10 +68344,10 @@ name: aleukemic leukemia def: "A leukemia characterized by the absence of leukemic cells in the peripheral blood." [NCIT:C4982] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "aleukemic leukemia" EXACT [NCIT:C4982] +synonym: "aleukemic leukemia" EXACT [DOID:6004, NCIT:C4982] synonym: "aleukemic myelosis" RELATED [DOID:6004] synonym: "subleukemic leukaemia" RELATED OMO:0003005 [] -synonym: "subleukemic leukemia" RELATED [DOID:12965] +synonym: "subleukemic leukemia" RELATED [] xref: DOID:12965 {source="MONDO:equivalentTo"} xref: DOID:6004 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: ICD9:208.80 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -68365,7 +68367,7 @@ name: adult central nervous system teratoma def: "A mature or immature teratoma affecting the central nervous system and occurring in adults." [NCIT:C5794] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult central nervous system teratoma" EXACT [NCIT:C5794] +synonym: "adult central nervous system teratoma" EXACT [DOID:6015, NCIT:C5794] synonym: "adult CNS teratoma" EXACT [NCIT:C5794] synonym: "Central nervous system teratoma" EXACT [NCIT:C5794] synonym: "central nervous system teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] @@ -68389,7 +68391,7 @@ name: adult central nervous system mature teratoma def: "A central nervous system mature teratoma that occurs in an adult." [MONDO:design_pattern] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult central nervous system mature teratoma" EXACT [NCIT:C27400] +synonym: "adult central nervous system mature teratoma" EXACT [DOID:6016, NCIT:C27400] synonym: "central nervous system mature teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:6016 {source="MONDO:equivalentTo"} xref: MEDGEN:231037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -68406,7 +68408,7 @@ name: central nervous system mature teratoma def: "A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)" [NCIT:C7013] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "central nervous system mature teratoma" EXACT [MONDO:patterns/location, NCIT:C7013] +synonym: "central nervous system mature teratoma" EXACT [DOID:6017, MONDO:patterns/location, NCIT:C7013] synonym: "CNS mature teratoma" EXACT [NCIT:C7013] synonym: "mature teratoma" RELATED [ONCOTREE:BMT] synonym: "mature teratoma of central nervous system" EXACT [NCIT:C7013] @@ -68428,7 +68430,7 @@ id: MONDO:0003734 name: adult central nervous system immature teratoma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult central nervous system immature teratoma" EXACT [NCIT:C27401] +synonym: "adult central nervous system immature teratoma" EXACT [DOID:6018, NCIT:C27401] xref: DOID:6018 {source="MONDO:equivalentTo"} xref: MEDGEN:231036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27401 {source="DOID:6018", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -68445,7 +68447,7 @@ def: "A variant of teratoma composed of incompletely differentiated components r subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "central nervous system immature teratoma" EXACT [NCIT:C7014] +synonym: "central nervous system immature teratoma" EXACT [DOID:6019, NCIT:C7014] synonym: "CNS immature teratoma" EXACT [NCIT:C7014] synonym: "immature teratoma" RELATED [ONCOTREE:BIMT] synonym: "immature teratoma of central nervous system" EXACT [NCIT:C7014] @@ -68466,7 +68468,7 @@ def: "An overwhelming, irrational, and persistent fear of being diagnosed with c synonym: "cancer phobia" EXACT [DOID:602] synonym: "Cancerphobia" EXACT [NCIT:C35492] synonym: "fear of getting cancer" EXACT [DOID:602] -synonym: "fear of getting cancer (finding)" EXACT [DOID:602] +synonym: "fear of getting cancer (finding)" EXACT [] xref: DOID:602 {source="MONDO:equivalentTo"} xref: MEDGEN:115929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35492 {source="DOID:602", source="MONDO:equivalentTo"} @@ -68527,7 +68529,7 @@ is_a: MONDO:0002211 {source="DOID:6025", source="NCIT:C27870"} ! B cell deficien id: MONDO:0003740 name: AIDS phobia def: "An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome." [NCIT:C35614] -synonym: "AIDS phobia" EXACT [NCIT:C35614] +synonym: "AIDS phobia" EXACT [DOID:603, NCIT:C35614] xref: DOID:603 {source="MONDO:equivalentTo"} xref: MEDGEN:167692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35614 {source="DOID:603", source="MONDO:equivalentTo"} @@ -68542,12 +68544,12 @@ def: "A rare sex cord-stromal tumor that arises from the testis. It is the most subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "juvenile granulosa cell tumor" BROAD [DOID:6032] -synonym: "juvenile granulosa cell tumor (morphologic abnormality)" BROAD [DOID:6032] +synonym: "juvenile granulosa cell tumor" BROAD [] +synonym: "juvenile granulosa cell tumor (morphologic abnormality)" BROAD [] synonym: "juvenile granulosa cell tumour" BROAD OMO:0003005 [] synonym: "juvenile granulosa cell tumour (morphologic abnormality)" BROAD OMO:0003005 [] -synonym: "juvenile type granulosa cell neoplasm" BROAD [DOID:6032] -synonym: "juvenile type granulosa cell tumor" BROAD [DOID:6032, NCIT:C4207] +synonym: "juvenile type granulosa cell neoplasm" BROAD [] +synonym: "juvenile type granulosa cell tumor" BROAD [] synonym: "juvenile type granulosa cell tumour" BROAD OMO:0003005 [] xref: DOID:6032 {source="MONDO:equivalentTo"} xref: MEDGEN:308257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -68565,11 +68567,11 @@ name: heart fibrosarcoma def: "A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Cardiac fibrosarcoma" EXACT [NCIT:C5361] -synonym: "cardiac fibrosarcoma" EXACT [DOID:6033] +synonym: "Cardiac fibrosarcoma" EXACT [DOID:6033, NCIT:C5361] +synonym: "cardiac fibrosarcoma" EXACT [DOID:6033, NCIT:C5361] synonym: "fibrosarcoma of heart" EXACT [NCIT:C5361] synonym: "fibrosarcoma of the heart" EXACT [DOID:6033, NCIT:C5361] -synonym: "heart fibrosarcoma" EXACT [NCIT:C5361] +synonym: "heart fibrosarcoma" EXACT [DOID:6033, NCIT:C5361] synonym: "heart fibrosarcoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:6033 {source="MONDO:equivalentTo"} xref: MEDGEN:232022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -68649,7 +68651,7 @@ name: ciliary body spindle cell melanoma def: "A spindle cell melanoma that involves the ciliary body." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ciliary body spindle cell melanoma" EXACT [MONDO:patterns/location] +synonym: "ciliary body spindle cell melanoma" EXACT [DOID:6043, MONDO:patterns/location, NCIT:C6117] synonym: "spindle cell melanoma of ciliary body" EXACT [NCIT:C6117] synonym: "spindle cell melanoma of the ciliary body" EXACT [DOID:6043, NCIT:C6117] xref: DOID:6043 {source="MONDO:equivalentTo"} @@ -68668,7 +68670,7 @@ name: telangiectatic glomangioma def: "A glomus tumor characterized by huge vascular channel formations." [NCIT:C5345] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "telangiectatic glomangioma" EXACT [NCIT:C5345] +synonym: "telangiectatic glomangioma" EXACT [DOID:6048, NCIT:C5345] xref: DOID:6048 {source="MONDO:equivalentTo"} xref: MEDGEN:236998 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5345 {source="DOID:6048", source="MONDO:equivalentTo"} @@ -68702,7 +68704,7 @@ synonym: "disease or disorder of oesophagus" EXACT OMO:0003005 [] synonym: "disorder of esophagus" EXACT [MONDO:patterns/location_top] synonym: "disorder of oesophagus" EXACT OMO:0003005 [] synonym: "esophageal disorder" EXACT [NCIT:C3027] -synonym: "esophageal ulcer" NARROW [DOID:6050, NCIT:C26950] +synonym: "esophageal ulcer" NARROW [] synonym: "esophagus disease" EXACT [MONDO:patterns/location] synonym: "esophagus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "oesophagus disease" EXACT OMO:0003005 [] @@ -68736,9 +68738,9 @@ name: childhood central nervous system germ cell tumor def: "A germ cell tumor of the central nervous system occurring in children." [NCIT:C6205] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "central nervous system childhood germ cell tumor" EXACT [MONDO:patterns/location] -synonym: "central nervous system childhood germ cell tumour" EXACT OMO:0003005 [] -synonym: "central nervous system germ cell tumor" BROAD [NCIT:C6205] +synonym: "central nervous system childhood germ cell tumor" EXACT [DOID:6052, MONDO:patterns/location] +synonym: "central nervous system childhood germ cell tumour" EXACT OMO:0003005 [DOID:6052] +synonym: "central nervous system germ cell tumor" BROAD [] synonym: "central nervous system germ cell tumour" BROAD OMO:0003005 [] synonym: "central nervous system paediatric germ cell cancer" EXACT OMO:0003005 [] synonym: "central nervous system pediatric germ cell cancer" EXACT [MONDO:patterns/location] @@ -68764,7 +68766,7 @@ synonym: "paediatric central nervous system germ cell tumour" EXACT OMO:0003005 synonym: "paediatric CNS germ cell neoplasm" EXACT OMO:0003005 [] synonym: "paediatric CNS germ cell tumour" EXACT OMO:0003005 [] synonym: "paediatric germ cell neoplasm of central nervous system" EXACT OMO:0003005 [] -synonym: "paediatric germ cell neoplasm of CNS" EXACT OMO:0003005 [] +synonym: "paediatric germ cell neoplasm of CNS" EXACT OMO:0003005 [DOID:6052] synonym: "paediatric germ cell neoplasm of the central nervous system" EXACT OMO:0003005 [] synonym: "paediatric germ cell neoplasm of the CNS" EXACT OMO:0003005 [] synonym: "paediatric germ cell tumour of central nervous system" EXACT OMO:0003005 [] @@ -68801,14 +68803,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "childhood germ cell neoplasm" EXACT [NCIT:C7928] synonym: "childhood germ cell tumor" EXACT [NCIT:C7928] -synonym: "germ cell tumor" BROAD [NCIT:C7928] +synonym: "germ cell tumor" BROAD [] synonym: "germ cell tumour" BROAD OMO:0003005 [] synonym: "paediatric germ cell cancer" RELATED OMO:0003005 [] -synonym: "paediatric germ cell neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric germ cell neoplasm" EXACT OMO:0003005 [DOID:6053] synonym: "paediatric germ cell tumour" EXACT OMO:0003005 [] -synonym: "pediatric germ cell cancer" RELATED [DOID:6053] +synonym: "pediatric germ cell cancer" RELATED [] synonym: "pediatric germ cell neoplasm" EXACT [DOID:6053, NCIT:C7928] -synonym: "pediatric germ cell tumor" EXACT [DOID:6053, NCIT:C7928] +synonym: "pediatric germ cell tumor" EXACT [NCIT:C7928] xref: DOID:6053 {source="MONDO:equivalentTo"} xref: MEDGEN:75907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7928 {source="MONDO:equivalentTo", source="DOID:6053"} @@ -68824,8 +68826,8 @@ name: frontal sinus Schneiderian papilloma def: "A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6837] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "frontal sinus Schneiderian papilloma" EXACT [NCIT:C6837] -synonym: "Schneiderian papilloma of frontal sinus" RELATED [NCIT:C6837] +synonym: "frontal sinus Schneiderian papilloma" EXACT [DOID:6054, NCIT:C6837] +synonym: "Schneiderian papilloma of frontal sinus" RELATED [] synonym: "Schneiderian papilloma of the frontal sinus" EXACT [DOID:6054, NCIT:C6837] xref: DOID:6054 {source="MONDO:equivalentTo"} xref: MEDGEN:234273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -68839,9 +68841,9 @@ is_a: MONDO:0021483 {source="MONDO:Redundant", source="NCIT:C6837"} ! benign neo id: MONDO:0003753 name: nasal vestibule squamous papilloma def: "A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule." [NCIT:P378] -synonym: "nasal vestibule papilloma" EXACT [MONDO:patterns/location, NCIT:C4369] +synonym: "nasal vestibule papilloma" EXACT [DOID:6059, MONDO:patterns/location, NCIT:C4369] synonym: "nasal vestibule squamous papilloma" EXACT [MONDO:patterns/location, NCIT:C4369] -synonym: "papilloma of nasal vestibule" EXACT [NCIT:C4369] +synonym: "papilloma of nasal vestibule" EXACT [DOID:6059, NCIT:C4369] synonym: "papilloma of the nasal vestibule" EXACT [NCIT:C4369] synonym: "squamous papilloma of nasal vestibule" EXACT [NCIT:C4369] synonym: "squamous papilloma of the nasal vestibule" EXACT [DOID:6059, NCIT:C4369] @@ -68899,14 +68901,14 @@ id: MONDO:0003756 name: ovarian mucinous neoplasm def: "A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract." [NCIT:C5242] subset: otar {source="MONDO:OTAR"} -synonym: "malignant ovarian mucinous neoplasm" NARROW [DOID:6067] +synonym: "malignant ovarian mucinous neoplasm" NARROW [] synonym: "mucinous neoplasm of ovary" EXACT [NCIT:C5242] synonym: "mucinous neoplasm of the ovary" EXACT [NCIT:C5242] synonym: "mucinous tumor of ovary" EXACT [DOID:6067, NCIT:C5242] synonym: "mucinous tumor of the ovary" EXACT [NCIT:C5242] synonym: "mucinous tumour of ovary" EXACT OMO:0003005 [] synonym: "mucinous tumour of the ovary" EXACT OMO:0003005 [] -synonym: "ovarian mucinous neoplasm" EXACT [NCIT:C5242] +synonym: "ovarian mucinous neoplasm" EXACT [DOID:6067, NCIT:C5242] synonym: "ovarian mucinous tumor" EXACT [DOID:6067, NCIT:C5242] synonym: "ovarian mucinous tumour" EXACT OMO:0003005 [] xref: DOID:6067 {source="MONDO:equivalentTo"} @@ -68947,12 +68949,12 @@ def: "A germ cell tumor that arises from the testis during childhood." [NCIT:C65 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood testicular germ cell neoplasm" EXACT [NCIT:C6552] -synonym: "childhood testicular germ cell tumor" EXACT [NCIT:C6552] -synonym: "paediatric testicular germ cell neoplasm" EXACT OMO:0003005 [] -synonym: "paediatric testicular germ cell tumour" EXACT OMO:0003005 [] +synonym: "childhood testicular germ cell tumor" EXACT [DOID:6082, NCIT:C6552] +synonym: "paediatric testicular germ cell neoplasm" EXACT OMO:0003005 [DOID:6082] +synonym: "paediatric testicular germ cell tumour" EXACT OMO:0003005 [DOID:6082] synonym: "pediatric testicular germ cell neoplasm" EXACT [DOID:6082, NCIT:C6552] -synonym: "pediatric testicular germ cell tumor" EXACT [MONDO:patterns/childhood, NCIT:C6552] -synonym: "testicular germ cell tumor" BROAD [NCIT:C6552] +synonym: "pediatric testicular germ cell tumor" EXACT [DOID:6082, MONDO:patterns/childhood, NCIT:C6552] +synonym: "testicular germ cell tumor" BROAD [] synonym: "testicular germ cell tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "testicular germ cell tumour" BROAD OMO:0003005 [] synonym: "testicular germ cell tumour of childhood" EXACT OMO:0003005 [] @@ -68973,19 +68975,19 @@ def: "A yolk sac tumor that arises from the ovary and occurs in children." [NCIT subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood ovarian endodermal sinus neoplasm" EXACT [DOID:6083, NCIT:C6551] -synonym: "childhood ovarian endodermal sinus tumor" RELATED [NCIT:C6551] +synonym: "childhood ovarian endodermal sinus tumor" RELATED [] synonym: "childhood ovarian endodermal sinus tumour" RELATED OMO:0003005 [] -synonym: "childhood ovarian yolk Sac neoplasm" RELATED [NCIT:C6551] -synonym: "childhood ovarian yolk sac tumor" EXACT [NCIT:C6551] +synonym: "childhood ovarian yolk Sac neoplasm" RELATED [] +synonym: "childhood ovarian yolk sac tumor" EXACT [DOID:6083, NCIT:C6551] synonym: "ovary childhood endodermal sinus tumor" EXACT [MONDO:patterns/location] synonym: "ovary childhood endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "paediatric ovarian endodermal sinus neoplasm" RELATED OMO:0003005 [] synonym: "paediatric ovarian endodermal sinus tumour" RELATED OMO:0003005 [] synonym: "paediatric ovarian yolk Sac neoplasm" RELATED OMO:0003005 [] -synonym: "paediatric ovarian yolk Sac tumour" EXACT OMO:0003005 [] -synonym: "pediatric ovarian endodermal sinus neoplasm" RELATED [NCIT:C6551] -synonym: "pediatric ovarian endodermal sinus tumor" RELATED [NCIT:C6551] -synonym: "pediatric ovarian yolk Sac neoplasm" RELATED [NCIT:C6551] +synonym: "paediatric ovarian yolk Sac tumour" EXACT OMO:0003005 [DOID:6083] +synonym: "pediatric ovarian endodermal sinus neoplasm" RELATED [] +synonym: "pediatric ovarian endodermal sinus tumor" RELATED [] +synonym: "pediatric ovarian yolk Sac neoplasm" RELATED [] synonym: "pediatric ovarian yolk Sac tumor" EXACT [DOID:6083, NCIT:C6551] xref: DOID:6083 {source="MONDO:equivalentTo"} xref: MEDGEN:234136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -69004,15 +69006,15 @@ def: "A germ cell tumor that arises from the ovary and occurs in children." [NCI subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood ovarian germ cell neoplasm" EXACT [NCIT:C8588] -synonym: "childhood ovarian germ cell tumor" EXACT [NCIT:C8588] +synonym: "childhood ovarian germ cell tumor" EXACT [DOID:6084, NCIT:C8588] synonym: "childhood ovarian germ cell tumour" EXACT OMO:0003005 [] -synonym: "ovarian germ cell tumor" BROAD [NCIT:C8588] +synonym: "ovarian germ cell tumor" BROAD [] synonym: "ovarian germ cell tumor of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "ovarian germ cell tumour" BROAD OMO:0003005 [] synonym: "ovarian germ cell tumour of childhood" EXACT OMO:0003005 [] -synonym: "paediatric ovarian germ cell neoplasm" EXACT OMO:0003005 [] +synonym: "paediatric ovarian germ cell neoplasm" EXACT OMO:0003005 [DOID:6084] synonym: "pediatric ovarian germ cell neoplasm" EXACT [DOID:6084, NCIT:C8588] -synonym: "pediatric ovarian germ cell tumor" EXACT [MONDO:patterns/childhood, NCIT:C8588] +synonym: "pediatric ovarian germ cell tumor" EXACT [DOID:6084, MONDO:patterns/childhood, NCIT:C8588] xref: DOID:6084 {source="MONDO:equivalentTo"} xref: MEDGEN:162990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8588 {source="MONDO:equivalentTo", source="DOID:6084"} @@ -69034,9 +69036,9 @@ synonym: "leptomeninx melanoma" EXACT [] synonym: "leptomeninx melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "malignant melanoma of meninges" EXACT [] synonym: "melanoma (disease) of leptomeninx" EXACT [] -synonym: "melanoma of leptomeninges" RELATED [NCIT:C5317] +synonym: "melanoma of leptomeninges" RELATED [] synonym: "melanoma of the leptomeninges" EXACT [DOID:6085, NCIT:C5317] -synonym: "meningeal melanoma" EXACT [NCIT:C5317] +synonym: "meningeal melanoma" EXACT [DOID:6085, NCIT:C5317] xref: DOID:6085 {source="MONDO:equivalentTo"} xref: MEDGEN:272793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5317 {source="MONDO:equivalentTo", source="DOID:6085", source="NCIT:C5317"} @@ -69057,17 +69059,17 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cancer of leptomeninx" EXACT [MONDO:patterns/cancer] -synonym: "leptomeningeal cancer" RELATED [NCIT:C8506] +synonym: "leptomeningeal cancer" RELATED [] synonym: "leptomeninx cancer" EXACT [MONDO:patterns/location] -synonym: "malignant leptomeningeal neoplasm" EXACT [NCIT:C8506] -synonym: "malignant leptomeningeal tumor" EXACT [NCIT:C8506] +synonym: "malignant leptomeningeal neoplasm" EXACT [DOID:6086, NCIT:C8506] +synonym: "malignant leptomeningeal tumor" EXACT [DOID:6086, NCIT:C8506] synonym: "malignant leptomeninx neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of leptomeninges" RELATED [NCIT:C8506] +synonym: "malignant neoplasm of leptomeninges" RELATED [] synonym: "malignant neoplasm of leptomeninx" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of the leptomeninges" RELATED [NCIT:C8506] +synonym: "malignant neoplasm of the leptomeninges" RELATED [] synonym: "malignant tumor of leptomeninges" EXACT [DOID:6086, NCIT:C8506] -synonym: "malignant tumor of the leptomeninges" RELATED [NCIT:C8506] -synonym: "malignant tumour of leptomeninges" EXACT OMO:0003005 [] +synonym: "malignant tumor of the leptomeninges" RELATED [] +synonym: "malignant tumour of leptomeninges" EXACT OMO:0003005 [DOID:6086] synonym: "malignant tumour of the leptomeninges" RELATED OMO:0003005 [] xref: DOID:6086 {source="MONDO:equivalentTo"} xref: MEDGEN:233153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -69084,7 +69086,7 @@ id: MONDO:0003763 name: acute stress disorder def: "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month." [NCIT:C92621] subset: otar {source="MONDO:OTAR"} -synonym: "acute stress reaction" EXACT [MONDO:0005457] +synonym: "acute stress reaction" EXACT [ICD10CM:F43.0, MONDO:0005457] synonym: "traumatic stress disorder" EXACT [DOID:6088] xref: DOID:6088 {source="MONDO:equivalentTo"} xref: EFO:0005223 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -69111,7 +69113,7 @@ def: "A melanoma that arises from leptomeningeal melanocytes and occurs in child subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "childhood leptomeningeal melanoma" EXACT [NCIT:C5318] +synonym: "childhood leptomeningeal melanoma" EXACT [DOID:6089, NCIT:C5318] synonym: "childhood meningeal melanoma" EXACT [NCIT:C5318] synonym: "paediatric meningeal melanoma" EXACT OMO:0003005 [] synonym: "pediatric meningeal melanoma" EXACT [NCIT:C5318] @@ -69130,10 +69132,10 @@ def: "A melanoma that arises from leptomeningeal melanocytes and occurs in adult subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "adult leptomeningeal melanoma" EXACT [NCIT:C5319] +synonym: "adult leptomeningeal melanoma" EXACT [DOID:6090, NCIT:C5319] synonym: "adult meningeal melanoma" EXACT [NCIT:C5319] -synonym: "melanoma of adult leptomeninges" EXACT [DOID:6090, NCIT:C5319] -synonym: "melanoma of the adult leptomeninges" RELATED [NCIT:C5319] +synonym: "melanoma of adult leptomeninges" EXACT [DOID:6090] +synonym: "melanoma of the adult leptomeninges" RELATED [] xref: DOID:6090 {source="MONDO:equivalentTo"} xref: MEDGEN:231042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5319 {source="DOID:6090", source="MONDO:equivalentTo", source="NCIT:C5319"} @@ -69166,8 +69168,8 @@ synonym: "malignant tumor of thalamus" EXACT [DOID:6098, NCIT:C4576] synonym: "malignant tumor of the thalamus" EXACT [NCIT:C4576] synonym: "malignant tumour of thalamus" EXACT OMO:0003005 [] synonym: "malignant tumour of the thalamus" EXACT OMO:0003005 [] -synonym: "thalamic neoplasm" RELATED [DOID:6098] -synonym: "tumor of thalamus" EXACT [DOID:6098, NCIT:C6221] +synonym: "thalamic neoplasm" RELATED [] +synonym: "tumor of thalamus" EXACT [DOID:6098] synonym: "tumour of thalamus" EXACT OMO:0003005 [] xref: DOID:6098 {source="MONDO:equivalentTo"} xref: icd11.foundation:610018988 {source="MONDO:equivalentTo"} @@ -69190,14 +69192,14 @@ synonym: "disease of mitral valve" EXACT [DOID:61, ICD9CM:394, MONDO:patterns/lo synonym: "disease or disorder of mitral valve" EXACT [] synonym: "disorder of mitral valve" EXACT [MONDO:patterns/location_top] synonym: "mitral RH valve dis." EXACT [DOID:61] -synonym: "mitral valve disease" EXACT [MONDO:patterns/location] +synonym: "mitral valve disease" EXACT [DOID:61, MONDO:patterns/location] synonym: "mitral valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "mitral valve disorder" EXACT [NCIT:C78446] -synonym: "rheumatic disease of mitral valve" NARROW [DOID:61] -synonym: "rheumatic mitral insufficiency" NARROW [DOID:61, ICD9CM:394.1] -synonym: "rheumatic mitral valve changes" NARROW [DOID:61] -synonym: "rheumatic mitral valve incompetence" NARROW [DOID:61] -synonym: "rheumatic mitral valve regurgitation" NARROW [DOID:61] +synonym: "rheumatic disease of mitral valve" NARROW [] +synonym: "rheumatic mitral insufficiency" NARROW [ICD9CM:394.1] +synonym: "rheumatic mitral valve changes" NARROW [] +synonym: "rheumatic mitral valve incompetence" NARROW [] +synonym: "rheumatic mitral valve regurgitation" NARROW [] xref: DOID:61 {source="MONDO:equivalentTo"} xref: EFO:0009557 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:I05 {source="DOID:61"} @@ -69369,7 +69371,7 @@ synonym: "inverted papilloma of renal pelvis" EXACT [NCIT:C6187] synonym: "inverted papilloma of the kidney pelvis" EXACT [DOID:6118, NCIT:C6187] synonym: "inverted papilloma of the renal pelvis" EXACT [NCIT:C6187] synonym: "kidney pelvis inverted papilloma" EXACT [NCIT:C6187] -synonym: "renal pelvis inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C6187] +synonym: "renal pelvis inverted papilloma" EXACT [DOID:6118, MONDO:patterns/location, NCIT:C6187] xref: DOID:6118 {source="MONDO:equivalentTo"} xref: MEDGEN:277591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6187 {source="DOID:6118", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -69383,7 +69385,7 @@ intersection_of: disease_has_location UBERON:0001224 ! renal pelvis id: MONDO:0003777 name: renal pelvis urothelial papilloma def: "A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." [NCIT:C4528] -synonym: "renal pelvis urothelial papilloma" EXACT [MONDO:patterns/location, NCIT:C4528] +synonym: "renal pelvis urothelial papilloma" EXACT [DOID:6119, MONDO:patterns/location, NCIT:C4528] xref: DOID:6119 {source="MONDO:equivalentTo"} xref: MEDGEN:271479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4528 {source="MONDO:equivalentTo", source="DOID:6119", source="MONDO:exact-label-match"} @@ -69413,14 +69415,14 @@ synonym: "deficiency syndromes, immunologic" RELATED [MESH:D007153] synonym: "deficiency syndromes, immunological" RELATED [MESH:D007153] synonym: "hypoimmunity" EXACT [DOID:612] synonym: "IEI" EXACT ABBREVIATION [https://github.com/monarch-initiative/mondo/issues/4115] -synonym: "immune deficiency disorder" RELATED [DOID:612] -synonym: "immunodeficiency syndrome" RELATED [DOID:612, NCIT:C3131] +synonym: "immune deficiency disorder" RELATED [] +synonym: "immunodeficiency syndrome" RELATED [] synonym: "immunologic deficiency syndrome" RELATED [MESH:D007153] synonym: "immunological deficiency syndrome" RELATED [MESH:D007153] synonym: "immunological deficiency syndromes" RELATED [MESH:D007153] synonym: "inborn errors of immunity" EXACT [https://orcid.org/0000-0001-5208-3432] -synonym: "primary immunodeficiency" RELATED [Orphanet:101997] -synonym: "primary immunodeficiency disease" EXACT [https://github.com/monarch-initiative/mondo/issues/4115] +synonym: "primary immunodeficiency" RELATED [] +synonym: "primary immunodeficiency disease" EXACT [DOID:612, https://github.com/monarch-initiative/mondo/issues/4115] synonym: "syndrome, antibody deficiency" RELATED [MESH:D007153] synonym: "syndrome, immunologic deficiency" RELATED [MESH:D007153] synonym: "syndrome, immunological deficiency" RELATED [MESH:D007153] @@ -69457,11 +69459,11 @@ id: MONDO:0003780 name: T-cell immunodeficiency def: "A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective." [NCIT:C27145] subset: otar {source="MONDO:OTAR"} -synonym: "T lymphocyte deficiency" RELATED [DOID:613] -synonym: "T-cell immunodeficiency" EXACT [DOID:613, NCIT:C27145] -synonym: "T-lymphocyte deficiency" RELATED EXCLUDE [DOID:613] -synonym: "T-lymphocyte deficiency (finding)" EXACT [DOID:613] -synonym: "T-lymphocyte immunodeficiency" EXACT [DOID:613] +synonym: "T lymphocyte deficiency" RELATED [] +synonym: "T-cell immunodeficiency" EXACT [NCIT:C27145] +synonym: "T-lymphocyte deficiency" RELATED EXCLUDE [] +synonym: "T-lymphocyte deficiency (finding)" EXACT [] +synonym: "T-lymphocyte immunodeficiency" EXACT [] xref: DOID:613 {source="MONDO:equivalentObsolete"} xref: MEDGEN:226894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27145 {source="DOID:613", source="NCIT:C27145", source="MONDO:equivalentTo"} @@ -69474,16 +69476,16 @@ id: MONDO:0003781 name: bronchitis def: "An acute or chronic inflammatory process affecting the bronchi." [NCIT:C2911] subset: otar {source="MONDO:OTAR"} -synonym: "acute bronchitis" NARROW [DOID:6132, NCIT:C26932] +synonym: "acute bronchitis" NARROW [] synonym: "acute bronchitis and bronchiolitis" RELATED [DOID:6132] -synonym: "bronchial infection" EXACT [NCIT:C2911] +synonym: "bronchial infection" EXACT [] synonym: "bronchus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "chest cold" RELATED [DOID:6132] -synonym: "chest infection" RELATED [DOID:6132] -synonym: "chronic bronchitis" NARROW [DOID:6132] +synonym: "chest cold" RELATED [] +synonym: "chest infection" RELATED [] +synonym: "chronic bronchitis" NARROW [] synonym: "CI - chest infection" EXACT [DOID:6132] synonym: "inflammation of bronchus" EXACT [] -synonym: "recurrent wheezy bronchitis" RELATED [DOID:6132] +synonym: "recurrent wheezy bronchitis" RELATED [] xref: CSP:2596-1500 {source="DOID:6132"} xref: DOID:6132 {source="MONDO:equivalentTo"} xref: EFO:0009661 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -69533,7 +69535,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "body of uterus epithelioid leiomyosarcoma" EXACT [MONDO:patterns/location] synonym: "epithelioid leiomyosarcoma of body of uterus" EXACT [MONDO:design_pattern] -synonym: "uterine corpus epithelioid leiomyosarcoma" EXACT [NCIT:C40174] +synonym: "uterine corpus epithelioid leiomyosarcoma" EXACT [DOID:6139, NCIT:C40174] synonym: "uterine epithelioid leiomyosarcoma" RELATED [ONCOTREE:UELMS] xref: DOID:6139 {source="MONDO:equivalentTo"} xref: MEDGEN:274363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -69552,8 +69554,8 @@ def: "Reduction in the number of lymphocytes." [MESH:D008231] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lymphocytopenia" EXACT [DOID:614] -synonym: "lymphopenia" EXACT [MONDO:ambiguous] +synonym: "lymphocytopenia" EXACT [DOID:614, ICD10CM:D72.810] +synonym: "lymphopenia" EXACT [DOID:614, icd11.foundation:298296736, MONDO:ambiguous] synonym: "lymphopenia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:614 {source="MONDO:equivalentTo"} xref: HP:0001888 {source="MONDO:otherHierarchy"} @@ -69575,7 +69577,7 @@ def: "A in situ carcinoma that involves the nasal cavity." [MONDO:patterns/locat synonym: "carcinoma in situ of nasal cavities" EXACT [DOID:6148] synonym: "carcinoma in situ of nasal cavity" EXACT [DOID:6148, MONDO:patterns/carcinoma_in_situ, NCIT:C4589] synonym: "carcinoma in situ of the nasal cavity" EXACT [NCIT:C4589] -synonym: "nasal cavity carcinoma in situ" EXACT [NCIT:C4589] +synonym: "nasal cavity carcinoma in situ" EXACT [DOID:6148, NCIT:C4589] synonym: "nasal cavity in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 carcinoma of nasal cavity" EXACT [NCIT:C4589] synonym: "stage 0 carcinoma of the nasal cavity" EXACT [DOID:6148, NCIT:C4589] @@ -69605,7 +69607,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "leucopenia" EXACT [DOID:615] synonym: "leukocytopenia" EXACT [NCIT:C26816] -synonym: "White blood cell decreased" EXACT [NCIT:C26816] +synonym: "White blood cell decreased" EXACT [] xref: DOID:615 {source="MONDO:equivalentTo"} xref: ICD10CM:D72.819 {source="DOID:615"} xref: ICD9:288.50 {source="DOID:615", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -69626,7 +69628,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "childhood choriocarcinoma of testis" EXACT [NCIT:C6544] -synonym: "childhood choriocarcinoma of the testis" EXACT [NCIT:C6544] +synonym: "childhood choriocarcinoma of the testis" EXACT [DOID:6160, NCIT:C6544] synonym: "childhood testicular choriocarcinoma" EXACT [NCIT:C6544] synonym: "choriocarcinoma of testis of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric choriocarcinoma of testis" EXACT OMO:0003005 [] @@ -69650,16 +69652,16 @@ def: "A malignant mixed germ cell neoplasm that arises from the testis during ch subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood mixed testicular germ cell cancer" EXACT [MONDO:design_pattern] -synonym: "childhood testicular mixed germ cell neoplasm" RELATED [NCIT:C6542] -synonym: "childhood testicular mixed germ cell tumor" RELATED [NCIT:C6542] +synonym: "childhood testicular mixed germ cell neoplasm" RELATED [] +synonym: "childhood testicular mixed germ cell tumor" RELATED [] synonym: "childhood testicular mixed germ cell tumour" RELATED OMO:0003005 [] synonym: "mixed testicular germ cell cancer of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric mixed testicular germ cell cancer" EXACT OMO:0003005 [] synonym: "paediatric testicular mixed germ cell neoplasm" RELATED OMO:0003005 [] synonym: "paediatric testicular mixed germ cell tumour" RELATED OMO:0003005 [] synonym: "pediatric mixed testicular germ cell cancer" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "pediatric testicular mixed germ cell neoplasm" RELATED [NCIT:C6542] -synonym: "pediatric testicular mixed germ cell tumor" RELATED [DOID:6161, NCIT:C6542] +synonym: "pediatric testicular mixed germ cell neoplasm" RELATED [] +synonym: "pediatric testicular mixed germ cell tumor" RELATED [] xref: DOID:6161 {source="MONDO:equivalentTo"} xref: MEDGEN:272471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6542 {source="MONDO:equivalentTo", source="DOID:6161"} @@ -69675,7 +69677,7 @@ def: "An embryonal carcinoma that arises from the testis during childhood." [NCI subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood embryonal carcinoma of testis" EXACT [NCIT:C6545] -synonym: "childhood embryonal carcinoma of the testis" EXACT [DOID:6162, NCIT:C6545] +synonym: "childhood embryonal carcinoma of the testis" EXACT [NCIT:C6545] synonym: "childhood testicular embryonal carcinoma" EXACT [NCIT:C6545] synonym: "paediatric embryonal carcinoma of testis" EXACT OMO:0003005 [] synonym: "paediatric embryonal carcinoma of the testis" EXACT OMO:0003005 [] @@ -69702,15 +69704,15 @@ subset: ordo_disorder {source="Orphanet:47044"} subset: orphanet_rare {source="Orphanet:47044"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial renal papillary carcinoma" EXACT [NCIT:C9222] +synonym: "familial renal papillary carcinoma" EXACT [DOID:6163, NCIT:C9222] synonym: "hereditary kidney papillary carcinoma" EXACT [NCIT:C9222] synonym: "hereditary papillary carcinoma of kidney" EXACT [NCIT:C9222] synonym: "hereditary papillary carcinoma of the kidney" EXACT [NCIT:C9222] synonym: "hereditary papillary renal carcinoma" EXACT [DOID:6163, NCIT:C9222] synonym: "hereditary papillary renal cell cancer" EXACT [NCIT:C9222] -synonym: "hereditary papillary renal cell carcinoma" EXACT CLINGEN_LABEL [MONDO:patterns/hereditary, NCIT:C9222] -synonym: "renal cell carcinoma, papillary" EXACT [OMIM:605074, OMIM:genemap2] -synonym: "renal cell carcinoma, papillary, 1, familial and somatic" EXACT [OMIM:605074, OMIM:genemap2] +synonym: "hereditary papillary renal cell carcinoma" EXACT CLINGEN_LABEL [MONDO:patterns/hereditary, NCIT:C9222, Orphanet:47044] +synonym: "renal cell carcinoma, papillary" EXACT [] +synonym: "renal cell carcinoma, papillary, 1, familial and somatic" EXACT [] xref: DOID:6163 {source="MONDO:equivalentTo"} xref: GARD:13157 {source="MONDO:GARD"} xref: MEDGEN:163907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -69731,7 +69733,7 @@ name: prostatic urethra urothelial carcinoma def: "An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra." [NCIT:C39900] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "prostatic urethra urothelial carcinoma" EXACT [NCIT:C39900] +synonym: "prostatic urethra urothelial carcinoma" EXACT [DOID:6166, NCIT:C39900] xref: DOID:6166 {source="MONDO:equivalentTo"} xref: MEDGEN:271406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39900 {source="MONDO:equivalentTo", source="DOID:6166"} @@ -69783,14 +69785,14 @@ synonym: "malignant mixed mesodermal Müllerian tumor of ovary" EXACT [NCIT:C919 synonym: "malignant mixed mesodermal Müllerian tumor of the ovary" EXACT [NCIT:C9192] synonym: "malignant mixed mesodermal Müllerian tumour of ovary" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal Müllerian tumour of the ovary" EXACT OMO:0003005 [] -synonym: "malignant mixed Müllerian tumor of the ovary" RELATED [Orphanet:213512] +synonym: "malignant mixed Müllerian tumor of the ovary" RELATED [] synonym: "malignant mixed Müllerian tumour of the ovary" RELATED OMO:0003005 [] synonym: "MMMT of the ovary" EXACT [Orphanet:213512] -synonym: "ovarian carcinosarcoma" EXACT [MONDO:0006331, NCIT:C9192, Orphanet:213512] +synonym: "ovarian carcinosarcoma" EXACT [DOID:6170, MONDO:0006331, NCIT:C9192, Orphanet:213512] synonym: "ovarian carcinosarcoma/malignant mixed mesodermal tumor" RELATED [ONCOTREE:OCS] synonym: "ovarian carcinosarcoma/malignant mixed mesodermal tumour" RELATED OMO:0003005 [] -synonym: "ovarian malignant mesodermal (Mullerian) mixed tumor" EXACT [NCIT:C9192] -synonym: "ovarian malignant mesodermal (mullerian) mixed tumor" EXACT [DOID:6170] +synonym: "ovarian malignant mesodermal (Mullerian) mixed tumor" EXACT [DOID:6170, NCIT:C9192] +synonym: "ovarian malignant mesodermal (mullerian) mixed tumor" EXACT [DOID:6170, NCIT:C9192] synonym: "ovarian malignant mesodermal (Mullerian) mixed tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mesodermal (mullerian) mixed tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mesodermal (Müllerian) mixed tumor" EXACT [NCIT:C9192] @@ -69808,10 +69810,10 @@ synonym: "ovarian malignant mixed mesodermal Müllerian neoplasm" EXACT [NCIT:C9 synonym: "ovarian malignant mixed mesodermal Müllerian tumor" EXACT [NCIT:C9192] synonym: "ovarian malignant mixed mesodermal Müllerian tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed Mullerian neoplasm" EXACT [NCIT:C9192] -synonym: "ovarian malignant mixed Mullerian tumor" EXACT [DOID:6170, NCIT:C9192, Orphanet:213512] +synonym: "ovarian malignant mixed Mullerian tumor" EXACT [DOID:6170, NCIT:C9192] synonym: "ovarian malignant mixed Mullerian tumour" EXACT OMO:0003005 [] synonym: "ovarian malignant mixed Müllerian neoplasm" EXACT [NCIT:C9192] -synonym: "ovarian malignant mixed Müllerian tumor" EXACT [NCIT:C9192] +synonym: "ovarian malignant mixed Müllerian tumor" EXACT [NCIT:C9192, Orphanet:213512] synonym: "ovarian malignant mixed Müllerian tumour" EXACT OMO:0003005 [] synonym: "ovarian MMMT" EXACT [DOID:6170, NCIT:C9192] synonym: "ovary carcinosarcoma" EXACT [MONDO:patterns/location] @@ -69855,13 +69857,13 @@ subset: orphanet_rare {source="Orphanet:370396"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ovarian small cell cancer" EXACT [NCIT:C27390] -synonym: "ovarian small cell carcinoma" EXACT [MONDO:0006341, NCIT:C27390] -synonym: "ovarian small cell NEC" EXACT [NCIT:C27390] -synonym: "ovarian small cell neuroendocrine carcinoma" EXACT [NCIT:C27390] +synonym: "ovarian small cell carcinoma" EXACT [DOID:6179, MONDO:0006341, NCIT:C27390] +synonym: "ovarian small cell NEC" EXACT [] +synonym: "ovarian small cell neuroendocrine carcinoma" EXACT [] synonym: "ovary small cell carcinoma" EXACT [MONDO:patterns/location] synonym: "SCCO" EXACT ABBREVIATION [Orphanet:370396] synonym: "small cell carcinoma of ovary" EXACT [MONDO:design_pattern] -synonym: "small cell carcinoma of the ovary" EXACT [MONDO:0018272] +synonym: "small cell carcinoma of the ovary" EXACT [MONDO:0018272, Orphanet:370396] synonym: "small cell ovarian carcinoma" EXACT [Orphanet:370396] xref: DOID:6179 {source="MONDO:equivalentTo"} xref: EFO:1000431 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -69888,7 +69890,7 @@ synonym: "Kaposi's sarcoma of the rectum" EXACT [NCIT:C5550] synonym: "rectal Kaposi sarcoma" EXACT [NCIT:C5550] synonym: "rectal Kaposi's sarcoma" EXACT [NCIT:C5550] synonym: "rectum Kaposi sarcoma" EXACT [DOID:6190] -synonym: "rectum Kaposi's sarcoma" RELATED [DOID:6190] +synonym: "rectum Kaposi's sarcoma" RELATED [] synonym: "rectum Kaposi's sarcoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:6190 {source="MONDO:equivalentTo"} xref: MEDGEN:277575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -69918,9 +69920,9 @@ name: conjunctivitis def: "Inflammation of the conjunctiva of the eye." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "conjunctiva inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "conjunctivitis" EXACT [MONDO:ambiguous] +synonym: "conjunctivitis" EXACT [DOID:6195, icd11.foundation:831696556, MONDO:ambiguous, NCIT:C34504] synonym: "conjunctivitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "inflammation of conjunctiva" EXACT [] +synonym: "inflammation of conjunctiva" EXACT [icd11.foundation:831696556] synonym: "Madras eye" RELATED [DOID:6195] synonym: "pink eye" EXACT [NCIT:C34504] xref: DOID:6195 {source="MONDO:equivalentTo"} @@ -69952,7 +69954,7 @@ def: "A malignant hemangiopericytoma characterized by the presence of necrotic c comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "conventional malignant hemangiopericytoma" EXACT [NCIT:C9425] +synonym: "conventional malignant hemangiopericytoma" EXACT [DOID:6197, NCIT:C9425] xref: DOID:6197 {source="MONDO:equivalentTo"} xref: MEDGEN:232395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9425 {source="MONDO:equivalentTo", source="DOID:6197"} @@ -69985,8 +69987,8 @@ id: MONDO:0003802 name: cornea cancer def: "A malignant neoplasm involving the cornea." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of cornea" EXACT [MONDO:patterns/cancer] -synonym: "cornea cancer" EXACT [MONDO:patterns/location] -synonym: "corneal tumor" BROAD [DOID:6199, NCIT:C4361] +synonym: "cornea cancer" EXACT [DOID:6199, MONDO:patterns/location] +synonym: "corneal tumor" BROAD [] synonym: "corneal tumour" BROAD OMO:0003005 [] synonym: "malignant cornea neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3565] synonym: "malignant cornea tumor" EXACT [NCIT:C3565] @@ -69995,13 +69997,13 @@ synonym: "malignant corneal neoplasm" EXACT [NCIT:C3565] synonym: "malignant corneal tumor" EXACT [DOID:6199, NCIT:C3565] synonym: "malignant corneal tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of cornea" EXACT [DOID:6199, MONDO:patterns/cancer, NCIT:C3565] -synonym: "malignant neoplasm of cornea (primary)" EXACT [DOID:6199] +synonym: "malignant neoplasm of cornea (primary)" EXACT [] synonym: "malignant neoplasm of the cornea" EXACT [NCIT:C3565] -synonym: "malignant tumor of cornea" EXACT [NCIT:C3565] +synonym: "malignant tumor of cornea" EXACT [DOID:6199, NCIT:C3565] synonym: "malignant tumor of the cornea" EXACT [NCIT:C3565] synonym: "malignant tumour of cornea" EXACT OMO:0003005 [] synonym: "malignant tumour of the cornea" EXACT OMO:0003005 [] -synonym: "neoplasm of cornea" BROAD EXCLUDE [DOID:6199] +synonym: "neoplasm of cornea" BROAD EXCLUDE [] xref: DOID:6199 {source="MONDO:equivalentTo"} xref: ICD10CM:C69.1 {source="DOID:6199"} xref: ICD9:190.4 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:6199"} @@ -70023,7 +70025,7 @@ id: MONDO:0003803 name: aortic valve disorder def: "A disease involving the aortic valve." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "aortic valve disease" EXACT [MONDO:patterns/location] +synonym: "aortic valve disease" EXACT [DOID:62, MONDO:patterns/location] synonym: "aortic valve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "aortic valve disorder" EXACT [NCIT:C78650] synonym: "disease of aortic valve" EXACT [MONDO:patterns/location_top] @@ -70049,7 +70051,7 @@ id: MONDO:0003804 name: obsolete blood protein disease comment: Reason: out of scope. Term to consider: none. synonym: "blood Protein disorder" RELATED [MESH:D001796] -synonym: "blood protein disorder" EXACT [DOID:620] +synonym: "blood protein disorder" EXACT [] synonym: "disorder, blood Protein" RELATED [MESH:D001796] synonym: "disorders, blood Protein" RELATED [MESH:D001796] synonym: "Protein disorder, blood" RELATED [MESH:D001796] @@ -70070,7 +70072,7 @@ subset: rare synonym: "malignant mesothelioma (disease) of pericardium" EXACT [] synonym: "malignant mesothelioma of pericardium" EXACT [DOID:6201, NCIT:C7631] synonym: "malignant mesothelioma of the pericardium" EXACT [NCIT:C7631] -synonym: "malignant pericardial mesothelioma" EXACT [DOID:6201, NCIT:C7631] +synonym: "malignant pericardial mesothelioma" EXACT [DOID:6201] synonym: "pericardial malignant mesothelioma" EXACT [NCIT:C7631] synonym: "pericardial mesothelioma" RELATED [MONDO:ambiguous] synonym: "pericardium malignant mesothelioma (disease)" EXACT [MONDO:patterns/location] @@ -70105,7 +70107,7 @@ synonym: "paraganglioma-like adenoma" EXACT [NCIT:C6846] synonym: "PLAT" EXACT ABBREVIATION [DOID:6203, NCIT:C6846] synonym: "thyroid gland hyalinizing trabecular tumor" EXACT [NCIT:C6846] synonym: "thyroid gland hyalinizing trabecular tumour" EXACT OMO:0003005 [] -synonym: "thyroid hyalinizing trabecular adenoma" EXACT [NCIT:C6846] +synonym: "thyroid hyalinizing trabecular adenoma" EXACT [DOID:6203, NCIT:C6846] xref: DOID:6203 {source="MONDO:equivalentTo"} xref: ICDO:8336/0 {source="NCIT:C6846"} xref: MEDGEN:277820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -70129,7 +70131,7 @@ def: "An osteosarcoma arising from the mediastinum." [NCIT:C6615] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "mediastinal extraskeletal osteosarcoma" EXACT [NCIT:C6615] -synonym: "mediastinal osteogenic sarcoma" EXACT [NCIT:C6615] +synonym: "mediastinal osteogenic sarcoma" EXACT [DOID:6208, NCIT:C6615] synonym: "mediastinal osteosarcoma" EXACT [NCIT:C6615] synonym: "mediastinum osteosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "osteogenic sarcoma of mediastinum" EXACT [NCIT:C6615] @@ -70172,7 +70174,7 @@ relationship: excluded_subClassOf MONDO:0002852 {source="DOID:6209", source="htt id: MONDO:0003810 name: bladder diffuse clear cell adenocarcinoma def: "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern." [NCIT:C39849] -synonym: "bladder diffuse clear cell adenocarcinoma" EXACT [NCIT:C39849] +synonym: "bladder diffuse clear cell adenocarcinoma" EXACT [DOID:6210, NCIT:C39849] xref: DOID:6210 {source="MONDO:equivalentTo"} xref: MEDGEN:267058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39849 {source="MONDO:equivalentTo", source="NCIT:C39849", source="DOID:6210"} @@ -70183,15 +70185,15 @@ is_a: MONDO:0003386 {source="DOID:6210", source="NCIT:C39849"} ! bladder clear c id: MONDO:0003811 name: ovarian seromucinous tumor def: "A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous." [NCIT:C4508] -synonym: "mixed epithelial neoplasm of ovary" EXACT [NCIT:C4508] -synonym: "mixed epithelial neoplasm of the ovary" EXACT [NCIT:C4508] -synonym: "mixed epithelial tumor of ovary" EXACT [NCIT:C4508] -synonym: "mixed epithelial tumor of the ovary" EXACT [NCIT:C4508] -synonym: "mixed epithelial tumour of ovary" EXACT OMO:0003005 [] +synonym: "mixed epithelial neoplasm of ovary" EXACT [] +synonym: "mixed epithelial neoplasm of the ovary" EXACT [] +synonym: "mixed epithelial tumor of ovary" EXACT [DOID:6211] +synonym: "mixed epithelial tumor of the ovary" EXACT [] +synonym: "mixed epithelial tumour of ovary" EXACT OMO:0003005 [DOID:6211] synonym: "mixed epithelial tumour of the ovary" EXACT OMO:0003005 [] -synonym: "ovarian mixed epithelial neoplasm" EXACT [NCIT:C4508] -synonym: "ovarian mixed epithelial tumor" EXACT [DOID:6211, NCIT:C4508] -synonym: "ovarian mixed epithelial tumour" EXACT OMO:0003005 [] +synonym: "ovarian mixed epithelial neoplasm" EXACT [] +synonym: "ovarian mixed epithelial tumor" EXACT [DOID:6211] +synonym: "ovarian mixed epithelial tumour" EXACT OMO:0003005 [DOID:6211] synonym: "ovarian Seromucinous tumor" EXACT [NCIT:C4508] synonym: "ovarian Seromucinous tumour" EXACT OMO:0003005 [] xref: DOID:6211 {source="MONDO:equivalentTo"} @@ -70210,7 +70212,7 @@ def: "A benign, borderline, or malignant epithelial tumor of the ovary character subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "endometrioid neoplasm of ovary" EXACT [DOID:6212, NCIT:C6257] +synonym: "endometrioid neoplasm of ovary" EXACT [DOID:6212] synonym: "endometrioid tumor of ovary" EXACT [MONDO:design_pattern] synonym: "endometrioid tumour of ovary" EXACT OMO:0003005 [] synonym: "malignant ovarian endometrioid tumor" EXACT [DOID:6212, NCIT:C40051] @@ -70233,9 +70235,9 @@ intersection_of: disease_has_location UBERON:0000992 ! ovary id: MONDO:0003813 name: ovarian papillary tumor def: "A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma." [NCIT:C8430] -synonym: "ovarian papillary neoplasm" EXACT [NCIT:C8430] +synonym: "ovarian papillary neoplasm" EXACT [DOID:6214, NCIT:C8430] synonym: "ovarian papillary tumor" EXACT [DOID:6214, NCIT:C8430] -synonym: "ovarian papillary tumor (morphologic abnormality)" EXACT [DOID:6214] +synonym: "ovarian papillary tumor (morphologic abnormality)" EXACT [] synonym: "ovarian papillary tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "papillary neoplasm of ovary" EXACT [NCIT:C8430] synonym: "papillary neoplasm of the ovary" EXACT [NCIT:C8430] @@ -70269,20 +70271,20 @@ id: MONDO:0003816 name: articular cartilage disorder def: "A disease involving the articular cartilage of joint." [https://orcid.org/0000-0002-6601-2165] synonym: "articular cartilage disorder" EXACT [] -synonym: "articular cartilage disorder involving ankle and foot" NARROW [DOID:6227, ICD9CM:718.07] -synonym: "articular cartilage disorder involving forearm" NARROW [DOID:6227, ICD9CM:718.03] -synonym: "articular cartilage disorder involving hand" NARROW [DOID:6227, ICD9CM:718.04] -synonym: "articular cartilage disorder involving multiple sites" NARROW [DOID:6227, ICD9CM:718.09] -synonym: "articular cartilage disorder involving pelvic region and thigh" NARROW [DOID:6227, ICD9CM:718.05] -synonym: "articular cartilage disorder involving shoulder region" NARROW [DOID:6227, ICD9CM:718.01] -synonym: "articular cartilage disorder involving upper arm" NARROW [DOID:6227, ICD9CM:718.02] -synonym: "articular cartilage disorder of ankle and/or foot" NARROW [DOID:6227] -synonym: "articular cartilage disorder of forearm" NARROW [DOID:6227] -synonym: "articular cartilage disorder of hand" NARROW [DOID:6227] -synonym: "articular cartilage disorder of multiple sites" NARROW [DOID:6227] -synonym: "articular cartilage disorder of shoulder region" NARROW [DOID:6227] -synonym: "articular cartilage disorder of the pelvic region and thigh" NARROW [DOID:6227] -synonym: "articular cartilage disorder of upper arm" NARROW [DOID:6227] +synonym: "articular cartilage disorder involving ankle and foot" NARROW [ICD9CM:718.07] +synonym: "articular cartilage disorder involving forearm" NARROW [ICD9CM:718.03] +synonym: "articular cartilage disorder involving hand" NARROW [ICD9CM:718.04] +synonym: "articular cartilage disorder involving multiple sites" NARROW [ICD9CM:718.09] +synonym: "articular cartilage disorder involving pelvic region and thigh" NARROW [ICD9CM:718.05] +synonym: "articular cartilage disorder involving shoulder region" NARROW [ICD9CM:718.01] +synonym: "articular cartilage disorder involving upper arm" NARROW [ICD9CM:718.02] +synonym: "articular cartilage disorder of ankle and/or foot" NARROW [] +synonym: "articular cartilage disorder of forearm" NARROW [] +synonym: "articular cartilage disorder of hand" NARROW [] +synonym: "articular cartilage disorder of multiple sites" NARROW [] +synonym: "articular cartilage disorder of shoulder region" NARROW [] +synonym: "articular cartilage disorder of the pelvic region and thigh" NARROW [] +synonym: "articular cartilage disorder of upper arm" NARROW [] synonym: "articular cartilage of joint disease" EXACT [MONDO:patterns/location] synonym: "articular cartilage of joint disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of articular cartilage of joint" EXACT [MONDO:patterns/location_top] @@ -70347,7 +70349,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood ovarian teratoma" EXACT [NCIT:C6554] synonym: "childhood teratoma of ovary" EXACT [NCIT:C6554] -synonym: "childhood teratoma of the ovary" EXACT [NCIT:C6554] +synonym: "childhood teratoma of the ovary" EXACT [DOID:6230, NCIT:C6554] synonym: "ovarian teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric ovarian teratoma" EXACT OMO:0003005 [] synonym: "paediatric teratoma of ovary" EXACT OMO:0003005 [] @@ -70371,8 +70373,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "mature ovarian teratoma" EXACT [NCIT:C8112] synonym: "mature teratoma" RELATED [ONCOTREE:OMT] -synonym: "mature teratoma of ovary" EXACT [DOID:6231, NCIT:C8112] -synonym: "mature teratoma of the ovary" RELATED [NCIT:C8112] +synonym: "mature teratoma of ovary" EXACT [NCIT:C8112] +synonym: "mature teratoma of the ovary" RELATED [] synonym: "ovary mature teratoma" EXACT [MONDO:patterns/location] xref: DOID:6231 {source="MONDO:equivalentTo"} xref: MEDGEN:233672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -70390,7 +70392,7 @@ name: ovarian biphasic or triphasic teratoma def: "A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm." [NCIT:C39992] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ovarian biphasic or triphasic teratoma" EXACT [NCIT:C39992] +synonym: "ovarian biphasic or triphasic teratoma" EXACT [DOID:6232, NCIT:C39992] xref: DOID:6232 {source="MONDO:equivalentTo"} xref: MEDGEN:274086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39992 {source="NCIT:C39992", source="MONDO:equivalentTo", source="DOID:6232"} @@ -70402,8 +70404,8 @@ id: MONDO:0003822 name: non-invasive bladder papillary urothelial neoplasm def: "A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas." [NCIT:P378] synonym: "bladder papillary neoplasm of low malignant potential" EXACT [DOID:6239] -synonym: "bladder PUNLMP" EXACT [DOID:6239, NCIT:C27884] -synonym: "non-invasive bladder papillary urothelial neoplasm" EXACT [NCIT:C39831] +synonym: "bladder PUNLMP" EXACT [DOID:6239] +synonym: "non-invasive bladder papillary urothelial neoplasm" EXACT [DOID:6239, NCIT:C39831] synonym: "papillary urothelial neoplasm of low malignant potential" EXACT [DOID:6239] xref: DOID:6239 {source="MONDO:equivalentTo"} xref: MEDGEN:309424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -70424,7 +70426,7 @@ replaced_by: MONDO:0015698 id: MONDO:0003824 name: hereditary kidney oncocytoma def: "An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome." [NCIT:C8960] -synonym: "familial renal oncocytoma" EXACT [NCIT:C8960] +synonym: "familial renal oncocytoma" EXACT [DOID:6244, NCIT:C8960] synonym: "hereditary kidney oncocytoma" EXACT [MONDO:patterns/hereditary, NCIT:C8960] synonym: "hereditary renal oncocytoma" EXACT [NCIT:C8960] xref: DOID:6244 {source="MONDO:equivalentTo"} @@ -70442,13 +70444,13 @@ def: "A benign tumor of the kidney, characterized by the presence of large cells synonym: "kidney oncocytic neoplasm" EXACT [MONDO:patterns/location] synonym: "kidney oncocytoma" EXACT [NCIT:C4526] synonym: "oncocytoma kidney" RELATED [GARD:0008477] -synonym: "oncocytoma of kidney" EXACT [NCIT:C4526] +synonym: "oncocytoma of kidney" EXACT [DOID:6245, NCIT:C4526] synonym: "oncocytoma of the kidney" EXACT [NCIT:C4526] synonym: "oncocytoma renal" RELATED [GARD:0008477] synonym: "renal epithelial oncocytic neoplasm" EXACT [NCIT:C4526] synonym: "renal epithelial oncocytic tumor" EXACT [DOID:6245, NCIT:C4526] synonym: "renal epithelial oncocytic tumour" EXACT OMO:0003005 [] -synonym: "renal oncocytoma" EXACT [NCIT:C4526] +synonym: "renal oncocytoma" EXACT [DOID:6245, NCIT:C4526] synonym: "ROCY" RELATED ABBREVIATION [ONCOTREE:ROCY] xref: DOID:6245 {source="MONDO:equivalentTo"} xref: MEDGEN:91094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -70471,7 +70473,7 @@ def: "An extragonadal malignant germ cell tumor that arises from the mediastinum subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "mediastinal seminoma" EXACT [NCIT:C6812] -synonym: "mediastinum seminoma" EXACT [MONDO:patterns/location] +synonym: "mediastinum seminoma" EXACT [DOID:6249, MONDO:patterns/location] synonym: "seminoma of mediastinum" EXACT [DOID:6249, NCIT:C6812] synonym: "seminoma of the mediastinum" EXACT [NCIT:C6812] xref: DOID:6249 {source="MONDO:equivalentTo"} @@ -70506,7 +70508,7 @@ def: "A rare, hormonally functioning or non-functioning pituitary gland adenocar subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Growth hormone producing pituitary gland carcinoma" EXACT [NCIT:C5963] -synonym: "Growth hormone-producing pituitary gland carcinoma" EXACT [NCIT:C5963] +synonym: "Growth hormone-producing pituitary gland carcinoma" EXACT [] synonym: "malignant Growth hormone producing neoplasm of pituitary" EXACT [NCIT:C5963] synonym: "malignant Growth hormone producing neoplasm of pituitary gland" EXACT [NCIT:C5963] synonym: "malignant Growth hormone producing neoplasm of the pituitary" EXACT [NCIT:C5963] @@ -70527,7 +70529,7 @@ synonym: "malignant Growth hormone producing tumour of pituitary" EXACT OMO:0003 synonym: "malignant Growth hormone producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "malignant Growth hormone producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "malignant Growth hormone producing tumour of the pituitary gland" EXACT OMO:0003005 [] -synonym: "malignant Growth hormone secreting neoplasm of pituitary" EXACT [NCIT:C5963] +synonym: "malignant Growth hormone secreting neoplasm of pituitary" EXACT [DOID:6256, NCIT:C5963] synonym: "malignant Growth hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C5963] synonym: "malignant Growth hormone secreting neoplasm of the pituitary" EXACT [NCIT:C5963] synonym: "malignant Growth hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C5963] @@ -70546,17 +70548,17 @@ synonym: "malignant Growth hormone secreting tumour of pituitary gland" EXACT OM synonym: "malignant Growth hormone secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "malignant Growth hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "malignant pituitary gland Somatotrophinoma" EXACT [NCIT:C5963] -synonym: "malignant pituitary gland somatotropinoma" EXACT [NCIT:C5963] +synonym: "malignant pituitary gland somatotropinoma" EXACT [] synonym: "malignant pituitary Somatotrophinoma" EXACT [NCIT:C5963] -synonym: "malignant pituitary somatotropinoma" EXACT [NCIT:C5963] +synonym: "malignant pituitary somatotropinoma" EXACT [] synonym: "malignant Somatotrophinoma of pituitary" EXACT [NCIT:C5963] synonym: "malignant Somatotrophinoma of pituitary gland" EXACT [NCIT:C5963] synonym: "malignant Somatotrophinoma of the pituitary gland" EXACT [NCIT:C5963] -synonym: "malignant somatotropinoma" EXACT [DOID:6256, NCIT:C5963] -synonym: "malignant somatotropinoma of pituitary" EXACT [NCIT:C5963] -synonym: "malignant somatotropinoma of pituitary gland" EXACT [NCIT:C5963] -synonym: "malignant somatotropinoma of the pituitary" EXACT [NCIT:C5963] -synonym: "malignant somatotropinoma of the pituitary gland" EXACT [NCIT:C5963] +synonym: "malignant somatotropinoma" EXACT [DOID:6256] +synonym: "malignant somatotropinoma of pituitary" EXACT [] +synonym: "malignant somatotropinoma of pituitary gland" EXACT [] +synonym: "malignant somatotropinoma of the pituitary" EXACT [] +synonym: "malignant somatotropinoma of the pituitary gland" EXACT [] xref: DOID:6256 {source="MONDO:equivalentTo"} xref: MEDGEN:277331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5963 {source="DOID:6256", source="MONDO:equivalentTo"} @@ -70571,7 +70573,7 @@ relationship: excluded_subClassOf MONDO:0003604 {source="DOID:6256", source="htt id: MONDO:0003829 name: chromophil adenoma of the kidney def: "A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei." [NCIT:P378] -synonym: "chromophil adenoma of the kidney" EXACT [NCIT:C3687] +synonym: "chromophil adenoma of the kidney" EXACT [DOID:6257, NCIT:C3687] synonym: "papillary adenoma of the kidney" EXACT [DOID:6257, NCIT:C3687] synonym: "renal papillary adenoma" EXACT [NCIT:C3687] xref: DOID:6257 {source="MONDO:equivalentTo"} @@ -70584,7 +70586,7 @@ is_a: MONDO:0002533 {source="NCIT:C3687"} ! papillary adenoma [Term] id: MONDO:0003830 name: type 1 papillary adenoma of the kidney -synonym: "type 1 papillary adenoma of the kidney" EXACT [NCIT:C39809] +synonym: "type 1 papillary adenoma of the kidney" EXACT [DOID:6258, NCIT:C39809] synonym: "type 1 renal papillary adenoma" EXACT [NCIT:C39809] xref: DOID:6258 {source="MONDO:equivalentTo"} xref: MEDGEN:276906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -70595,7 +70597,7 @@ is_a: MONDO:0003829 {source="DOID:6258", source="NCIT:C39809"} ! chromophil aden [Term] id: MONDO:0003831 name: type 2 papillary adenoma of the kidney -synonym: "type 2 papillary adenoma of the kidney" EXACT [NCIT:C39810] +synonym: "type 2 papillary adenoma of the kidney" EXACT [DOID:6259, NCIT:C39810] synonym: "type 2 renal papillary adenoma" EXACT [NCIT:C39810] xref: DOID:6259 {source="MONDO:equivalentTo"} xref: MEDGEN:311387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -70616,7 +70618,7 @@ synonym: "complement activation disease" EXACT [MONDO:design_pattern] synonym: "complement deficiency" EXACT [DOID:626, NCIT:C4691] synonym: "complement deficiency disease" EXACT [DOID:626] synonym: "disorder of complement activation" EXACT [MONDO:patterns/basis_in_disruption_of_process] -synonym: "immunodeficiency due to a complement cascade component deficiency" EXACT [MONDO:0018726] +synonym: "immunodeficiency due to a complement cascade component deficiency" EXACT [MONDO:0018726, Orphanet:459345] xref: DOID:626 {source="MONDO:equivalentTo"} xref: ICD10CM:D80-D89 {source="DOID:626"} xref: ICD10CM:D84.1 {source="DOID:626"} @@ -70694,7 +70696,7 @@ subset: rare synonym: "malignant pituitary gland thyrotropinoma" EXACT [NCIT:C5965] synonym: "malignant pituitary thyrotropinoma" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone producing neoplasm of pituitary" EXACT [NCIT:C5965] -synonym: "malignant thyroid stimulating hormone producing neoplasm of pituitary gland" EXACT [NCIT:C5965] +synonym: "malignant thyroid stimulating hormone producing neoplasm of pituitary gland" EXACT [DOID:6274, NCIT:C5965] synonym: "malignant thyroid stimulating hormone producing neoplasm of the pituitary" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C5965] synonym: "malignant thyroid stimulating hormone producing pituitary gland neoplasm" EXACT [NCIT:C5965] @@ -70774,7 +70776,7 @@ synonym: "malignant TSH secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "malignant TSH secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "thyrotropin producing pituitary gland carcinoma" EXACT [NCIT:C5965] synonym: "TSH producing pituitary gland carcinoma" EXACT [NCIT:C5965] -synonym: "TSH-producing pituitary gland carcinoma" EXACT [NCIT:C5965] +synonym: "TSH-producing pituitary gland carcinoma" EXACT [] xref: DOID:6274 {source="MONDO:equivalentTo"} xref: MEDGEN:277341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5965 {source="MONDO:equivalentTo", source="DOID:6274"} @@ -70788,85 +70790,85 @@ name: TSH producing pituitary tumor def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin." [NCIT:C7915] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "thyroid stimulating hormone producing neoplasm of pituitary" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone producing neoplasm of pituitary gland" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone producing neoplasm of the pituitary" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone producing pituitary gland neoplasm" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone producing pituitary gland tumor" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone producing neoplasm of pituitary" EXACT [] +synonym: "thyroid stimulating hormone producing neoplasm of pituitary gland" EXACT [] +synonym: "thyroid stimulating hormone producing neoplasm of the pituitary" EXACT [] +synonym: "thyroid stimulating hormone producing neoplasm of the pituitary gland" EXACT [] +synonym: "thyroid stimulating hormone producing pituitary gland neoplasm" EXACT [] +synonym: "thyroid stimulating hormone producing pituitary gland tumor" EXACT [] synonym: "thyroid stimulating hormone producing pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "thyroid stimulating hormone producing pituitary neoplasm" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone producing pituitary tumor" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone producing pituitary neoplasm" EXACT [] +synonym: "thyroid stimulating hormone producing pituitary tumor" EXACT [] synonym: "thyroid stimulating hormone producing pituitary tumour" EXACT OMO:0003005 [] -synonym: "thyroid stimulating hormone producing tumor" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone producing tumor of pituitary" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone producing tumor of pituitary gland" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone producing tumor of the pituitary" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone producing tumor of the pituitary gland" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone producing tumor" EXACT [] +synonym: "thyroid stimulating hormone producing tumor of pituitary" EXACT [] +synonym: "thyroid stimulating hormone producing tumor of pituitary gland" EXACT [] +synonym: "thyroid stimulating hormone producing tumor of the pituitary" EXACT [] +synonym: "thyroid stimulating hormone producing tumor of the pituitary gland" EXACT [] synonym: "thyroid stimulating hormone producing tumour" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing tumour of pituitary" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone producing tumour of the pituitary gland" EXACT OMO:0003005 [] -synonym: "thyroid stimulating hormone secreting neoplasm of pituitary" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone secreting pituitary gland tumor" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone secreting neoplasm of pituitary" EXACT [] +synonym: "thyroid stimulating hormone secreting neoplasm of pituitary gland" EXACT [] +synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary" EXACT [] +synonym: "thyroid stimulating hormone secreting neoplasm of the pituitary gland" EXACT [] +synonym: "thyroid stimulating hormone secreting pituitary gland neoplasm" EXACT [] +synonym: "thyroid stimulating hormone secreting pituitary gland tumor" EXACT [] synonym: "thyroid stimulating hormone secreting pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "thyroid stimulating hormone secreting pituitary neoplasm" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone secreting pituitary tumor" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone secreting pituitary neoplasm" EXACT [] +synonym: "thyroid stimulating hormone secreting pituitary tumor" EXACT [] synonym: "thyroid stimulating hormone secreting pituitary tumour" EXACT OMO:0003005 [] -synonym: "thyroid stimulating hormone secreting tumor of pituitary" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone secreting tumor of pituitary gland" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone secreting tumor of the pituitary" EXACT [NCIT:C7915] -synonym: "thyroid stimulating hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7915] +synonym: "thyroid stimulating hormone secreting tumor of pituitary" EXACT [] +synonym: "thyroid stimulating hormone secreting tumor of pituitary gland" EXACT [] +synonym: "thyroid stimulating hormone secreting tumor of the pituitary" EXACT [] +synonym: "thyroid stimulating hormone secreting tumor of the pituitary gland" EXACT [] synonym: "thyroid stimulating hormone secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "thyroid stimulating hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "thyrotroph adenoma" NARROW [] -synonym: "thyrotropin producing pituitary gland neoplasm" EXACT [NCIT:C7915] +synonym: "thyrotropin producing pituitary gland neoplasm" EXACT [] synonym: "thyrotropin-secreting pituitary adenoma" RELATED [] -synonym: "TSH producing neoplasm of pituitary" EXACT [NCIT:C7915] -synonym: "TSH producing neoplasm of pituitary gland" EXACT [NCIT:C7915] -synonym: "TSH producing neoplasm of the pituitary" EXACT [NCIT:C7915] -synonym: "TSH producing neoplasm of the pituitary gland" EXACT [NCIT:C7915] -synonym: "TSH producing pituitary gland neoplasm" EXACT [NCIT:C7915] -synonym: "TSH producing pituitary gland tumor" EXACT [NCIT:C7915] +synonym: "TSH producing neoplasm of pituitary" EXACT [] +synonym: "TSH producing neoplasm of pituitary gland" EXACT [] +synonym: "TSH producing neoplasm of the pituitary" EXACT [] +synonym: "TSH producing neoplasm of the pituitary gland" EXACT [] +synonym: "TSH producing pituitary gland neoplasm" EXACT [] +synonym: "TSH producing pituitary gland tumor" EXACT [] synonym: "TSH producing pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "TSH producing pituitary neoplasm" EXACT [NCIT:C7915] -synonym: "TSH producing pituitary tumor" EXACT [NCIT:C7915] -synonym: "TSH producing tumor of pituitary" EXACT [NCIT:C7915] -synonym: "TSH producing tumor of pituitary gland" EXACT [NCIT:C7915] -synonym: "TSH producing tumor of the pituitary" EXACT [NCIT:C7915] -synonym: "TSH producing tumor of the pituitary gland" EXACT [NCIT:C7915] +synonym: "TSH producing pituitary neoplasm" EXACT [] +synonym: "TSH producing pituitary tumor" EXACT [DOID:6275] +synonym: "TSH producing tumor of pituitary" EXACT [] +synonym: "TSH producing tumor of pituitary gland" EXACT [] +synonym: "TSH producing tumor of the pituitary" EXACT [] +synonym: "TSH producing tumor of the pituitary gland" EXACT [] synonym: "TSH producing tumour of pituitary" EXACT OMO:0003005 [] synonym: "TSH producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "TSH producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "TSH producing tumour of the pituitary gland" EXACT OMO:0003005 [] -synonym: "TSH secreting adenoma of the pituitary" NARROW [DOID:6275, NCIT:C8011] -synonym: "TSH secreting neoplasm of pituitary" EXACT [NCIT:C7915] -synonym: "TSH secreting neoplasm of pituitary gland" EXACT [NCIT:C7915] -synonym: "TSH secreting neoplasm of the pituitary" EXACT [NCIT:C7915] -synonym: "TSH secreting neoplasm of the pituitary gland" EXACT [NCIT:C7915] -synonym: "TSH secreting pituitary gland neoplasm" EXACT [NCIT:C7915] -synonym: "TSH secreting pituitary gland tumor" EXACT [NCIT:C7915] +synonym: "TSH secreting adenoma of the pituitary" NARROW [] +synonym: "TSH secreting neoplasm of pituitary" EXACT [] +synonym: "TSH secreting neoplasm of pituitary gland" EXACT [] +synonym: "TSH secreting neoplasm of the pituitary" EXACT [] +synonym: "TSH secreting neoplasm of the pituitary gland" EXACT [] +synonym: "TSH secreting pituitary gland neoplasm" EXACT [] +synonym: "TSH secreting pituitary gland tumor" EXACT [] synonym: "TSH secreting pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "TSH secreting pituitary neoplasm" EXACT [NCIT:C7915] -synonym: "TSH secreting pituitary tumor" EXACT [NCIT:C7915] +synonym: "TSH secreting pituitary neoplasm" EXACT [] +synonym: "TSH secreting pituitary tumor" EXACT [] synonym: "TSH secreting pituitary tumour" EXACT OMO:0003005 [] -synonym: "TSH secreting tumor of pituitary" EXACT [DOID:6275, NCIT:C7915] -synonym: "TSH secreting tumor of pituitary gland" EXACT [NCIT:C7915] -synonym: "TSH secreting tumor of the pituitary" EXACT [NCIT:C7915] -synonym: "TSH secreting tumor of the pituitary gland" EXACT [NCIT:C7915] -synonym: "TSH secreting tumour of pituitary" EXACT OMO:0003005 [] +synonym: "TSH secreting tumor of pituitary" EXACT [DOID:6275] +synonym: "TSH secreting tumor of pituitary gland" EXACT [] +synonym: "TSH secreting tumor of the pituitary" EXACT [] +synonym: "TSH secreting tumor of the pituitary gland" EXACT [] +synonym: "TSH secreting tumour of pituitary" EXACT OMO:0003005 [DOID:6275] synonym: "TSH secreting tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "TSH secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "TSH secreting tumour of the pituitary gland" EXACT OMO:0003005 [] synonym: "TSH-oma" RELATED [] -synonym: "TSH-producing pituitary gland neoplasm" EXACT [NCIT:C7915] +synonym: "TSH-producing pituitary gland neoplasm" EXACT [] synonym: "TSH-producing pituitary gland tumor" EXACT [NCIT:C7915] synonym: "TSH-producing pituitary gland tumour" EXACT OMO:0003005 [] xref: DOID:6275 {source="MONDO:equivalentTo"} @@ -70891,7 +70893,7 @@ def: "A malignant neoplasm of the ovary with an invasive epithelial component an subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ovarian mucinous adenocarcinofibroma" EXACT [DOID:6278, NCIT:C40034] -synonym: "ovarian mucinous malignant adenofibroma" EXACT [NCIT:C40034] +synonym: "ovarian mucinous malignant adenofibroma" EXACT [DOID:6278, NCIT:C40034] xref: DOID:6278 {source="MONDO:equivalentTo"} xref: ICDO:9015/3 {source="NCIT:C40034"} xref: MEDGEN:384497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -70908,7 +70910,7 @@ id: MONDO:0003840 name: epicardium lipoma def: "A rare benign adipose tissue neoplasm of the epicardium of the heart." [NCIT:P378] synonym: "epicardial lipoma" EXACT [NCIT:C6742] -synonym: "epicardium lipoma" EXACT [MONDO:patterns/location] +synonym: "epicardium lipoma" EXACT [DOID:6284, MONDO:patterns/location] synonym: "lipoma of epicardium" EXACT [DOID:6284, NCIT:C6742] synonym: "lipoma of the epicardium" EXACT [NCIT:C6742] xref: DOID:6284 {source="MONDO:equivalentTo"} @@ -70925,7 +70927,7 @@ id: MONDO:0003841 name: heart lipoma def: "A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue." [NCIT:P378] synonym: "Cardiac lipoma" EXACT [NCIT:C6741] -synonym: "heart lipoma" EXACT [MONDO:patterns/location] +synonym: "heart lipoma" EXACT [DOID:6285, MONDO:patterns/location, NCIT:C6741] synonym: "lipoma of heart" EXACT [DOID:6285, NCIT:C6741] synonym: "lipoma of the heart" EXACT [NCIT:C6741] xref: DOID:6285 {source="MONDO:equivalentTo"} @@ -70945,7 +70947,7 @@ name: childhood cerebellar astrocytic neoplasm def: "Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cerebellar astrocytoma" BROAD [NCIT:C6286] +synonym: "cerebellar astrocytoma" BROAD [] synonym: "cerebellar astrocytoma, childhood" RELATED [GARD:0009301] synonym: "cerebellum childhood astrocytic tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "cerebellum childhood astrocytic tumour" EXACT OMO:0003005 [] @@ -70975,7 +70977,7 @@ intersection_of: disease_has_location UBERON:0002037 ! cerebellum id: MONDO:0003843 name: cerebral hemisphere lipoma def: "A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum." [NCIT:C6220] -synonym: "cerebral hemisphere lipoma" EXACT [MONDO:patterns/location] +synonym: "cerebral hemisphere lipoma" EXACT [DOID:6291, MONDO:patterns/location, NCIT:C6220] synonym: "lipoma of cerebral hemisphere" EXACT [NCIT:C6220] synonym: "lipoma of the cerebral hemisphere" EXACT [DOID:6291, NCIT:C6220] xref: DOID:6291 {source="MONDO:equivalentTo"} @@ -70991,7 +70993,7 @@ intersection_of: disease_has_location UBERON:0001869 ! cerebral hemisphere id: MONDO:0003844 name: central nervous system lipoma def: "A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels." [NCIT:C5451] -synonym: "central nervous system lipoma" EXACT [MONDO:patterns/location, NCIT:C5451] +synonym: "central nervous system lipoma" EXACT [DOID:6293, MONDO:patterns/location, NCIT:C5451] synonym: "CNS lipoma" EXACT [NCIT:C5451] synonym: "lipoma of central nervous system" EXACT [NCIT:C5451] synonym: "lipoma of CNS" EXACT [NCIT:C5451] @@ -71010,7 +71012,7 @@ intersection_of: disease_has_location UBERON:0001017 ! central nervous system id: MONDO:0003845 name: corpus callosum lipoma def: "A rare benign adipose tissue neoplasm of the corpus callosum." [NCIT:P378] -synonym: "corpus callosum lipoma" EXACT [MONDO:patterns/location] +synonym: "corpus callosum lipoma" EXACT [DOID:6294, MONDO:patterns/location, NCIT:C5438] synonym: "lipoma of corpus callosum" EXACT [NCIT:C5438] synonym: "lipoma of the corpus callosum" EXACT [DOID:6294, NCIT:C5438] xref: DOID:6294 {source="MONDO:equivalentTo"} @@ -71025,7 +71027,7 @@ intersection_of: disease_has_location UBERON:0002336 ! corpus callosum id: MONDO:0003846 name: viral esophagitis def: "Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning." [NCIT:C27108] -synonym: "viral esophagitis" EXACT [NCIT:C27108] +synonym: "viral esophagitis" EXACT [DOID:6297, NCIT:C27108] synonym: "Viruses caused esophagitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses esophagitis (disease)" EXACT [] xref: DOID:6297 {source="MONDO:equivalentTo"} @@ -71048,16 +71050,16 @@ subset: harrisons_view subset: otar {source="MONDO:OTAR"} subset: rare_grouping synonym: "familial disorder" RELATED [] -synonym: "genetic condition" BROAD [NCIT:C3101] +synonym: "genetic condition" BROAD [] synonym: "genetic disease" BROAD [] -synonym: "genetic disorder" BROAD [NCIT:C3101] +synonym: "genetic disorder" BROAD [] synonym: "hereditary disease" EXACT [MONDO:patterns/hereditary, NCIT:C3101] synonym: "hereditary disease or disorder" EXACT [MONDO:patterns/hereditary] synonym: "hereditary diseases" EXACT [NCIT:C3101] synonym: "inborn disorder" RELATED [] synonym: "inherited disease" EXACT [NCIT:C3101] synonym: "inherited genetic disease" EXACT [https://github.com/monarch-initiative/mondo/issues/1758] -synonym: "Mendelian disease" NARROW [DOID:0050177] +synonym: "Mendelian disease" NARROW [] synonym: "molecular disease" EXACT [NCIT:C3101] xref: DOID:630 {source="MONDO:equivalentTo"} xref: EFO:0000508 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -71078,7 +71080,7 @@ name: ectopic thymus def: "A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution." [NCIT:C27804] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ectopic thymus" EXACT [NCIT:C27804] +synonym: "ectopic thymus" EXACT [DOID:6307, NCIT:C27804] xref: DOID:6307 {source="MONDO:equivalentTo"} xref: MEDGEN:232148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27804 {source="DOID:6307", source="MONDO:equivalentTo"} @@ -71133,7 +71135,7 @@ def: "A rare type of teratoma that arises from the ovary and resembles a malform subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "homunculus" EXACT [NCIT:C39996] -synonym: "ovarian fetiform teratoma" EXACT [NCIT:C39996] +synonym: "ovarian fetiform teratoma" EXACT [DOID:6314, NCIT:C39996] xref: DOID:6314 {source="MONDO:equivalentTo"} xref: MEDGEN:276666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39996 {source="DOID:6314", source="MONDO:equivalentTo"} @@ -71160,7 +71162,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adenocarcinoma of Bartholin's gland" RELATED [DOID:6316] synonym: "adenocarcinoma of the Bartholin's gland" EXACT [DOID:6316, NCIT:C7719] -synonym: "Bartholin gland adenocarcinoma" EXACT [DOID:6316] +synonym: "Bartholin gland adenocarcinoma" EXACT [DOID:6316, NCIT:C7719] synonym: "major vestibular gland adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:6316 {source="MONDO:equivalentTo"} xref: MEDGEN:116035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -71283,7 +71285,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "eccrine carcinoma of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "mammalian vulva eccrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "vulvar eccrine adenocarcinoma" EXACT [NCIT:C40305] +synonym: "vulvar eccrine adenocarcinoma" EXACT [DOID:6339, NCIT:C40305] xref: DOID:6339 {source="MONDO:equivalentTo"} xref: MEDGEN:384495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40305 {source="MONDO:equivalentTo", source="DOID:6339", source="MONDO:exact-label-match"} @@ -71301,8 +71303,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "melanocytic psammomatous malignant peripheral nerve sheath tumor" EXACT [NCIT:C6910] synonym: "melanocytic psammomatous malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] -synonym: "melanocytic psammomatous MPNST" EXACT [NCIT:C6910] -synonym: "melanotic psammomatous malignant peripheral nerve sheath tumor" EXACT [NCIT:C6910] +synonym: "melanocytic psammomatous MPNST" EXACT [DOID:6344, NCIT:C6910] +synonym: "melanotic psammomatous malignant peripheral nerve sheath tumor" EXACT [DOID:6344, NCIT:C6910] xref: DOID:6344 {source="MONDO:equivalentTo"} xref: MEDGEN:730167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6910 {source="DOID:6344", source="MONDO:equivalentTo"} @@ -71316,7 +71318,7 @@ def: "A rare variant of malignant peripheral nerve sheath tumor. It is character subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "malignant melanocytic neoplasm of peripheral nerve sheath" EXACT [NCIT:C4748] -synonym: "malignant melanocytic neoplasm of the peripheral nerve sheath" EXACT [NCIT:C4748] +synonym: "malignant melanocytic neoplasm of the peripheral nerve sheath" EXACT [DOID:6345, NCIT:C4748] synonym: "malignant melanocytic peripheral nerve sheath tumor" EXACT [NCIT:C4748] synonym: "malignant melanocytic peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "malignant melanotic peripheral nerve sheath tumor" EXACT [NCIT:C4748] @@ -71325,8 +71327,8 @@ synonym: "melanocytic MPNST" EXACT [DOID:6345, NCIT:C4748] synonym: "melanotic malignant nerve sheath tumor" EXACT [DOID:6345] synonym: "melanotic malignant nerve sheath tumour" EXACT OMO:0003005 [] synonym: "melanotic malignant peripheral nerve sheath tumor" EXACT [DOID:6345] -synonym: "melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [DOID:6345] -synonym: "melanotic malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] +synonym: "melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [] +synonym: "melanotic malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [DOID:6345] synonym: "melanotic malignant peripheral nerve sheath tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:6345 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -71345,8 +71347,8 @@ def: "An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [DOID:6354, NCIT:C27911] -synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)" EXACT [DOID:6354] -synonym: "CLL/SLL" EXACT [NCIT:C27911] +synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)" EXACT [] +synonym: "CLL/SLL" EXACT ABBREVIATION [DOID:6354, NCIT:C27911] xref: DOID:6354 {source="MONDO:equivalentTo"} xref: ICDO:9823/3 {source="NCIT:C27911"} xref: MEDGEN:224906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -71365,10 +71367,10 @@ def: "A form of melanoma occurring most often on the plantar, palmar, subungual, subset: otar {source="MONDO:OTAR"} synonym: "acral lentiginous malignant melanoma" EXACT [NCIT:C4022] synonym: "acral lentiginous malignant melanoma of skin" RELATED [GARD:0009570] -synonym: "acral lentiginous melanoma" EXACT [MONDO:ambiguous] +synonym: "acral lentiginous melanoma" EXACT [DOID:6367, MONDO:ambiguous, NCIT:C4022] synonym: "acral lentiginous melanoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "acral lentiginous melanoma, malignant" EXACT [DOID:6367] -synonym: "acral lentiginous melanoma, malignant (morphologic abnormality)" EXACT [DOID:6367] +synonym: "acral lentiginous melanoma, malignant" EXACT [DOID:6367, NCIT:C4022] +synonym: "acral lentiginous melanoma, malignant (morphologic abnormality)" EXACT [] synonym: "acral melanoma" RELATED [ONCOTREE:ACRM] synonym: "ALM" RELATED ABBREVIATION [GARD:0009570] synonym: "malignant acral lentiginous melanoma" EXACT [DOID:6367] @@ -71392,7 +71394,7 @@ def: "An osteosarcoma arising from the liver." [NCIT:C5833] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "hepatic extraskeletal osteosarcoma" EXACT [NCIT:C5833] -synonym: "hepatic osteogenic sarcoma" EXACT [NCIT:C5833] +synonym: "hepatic osteogenic sarcoma" EXACT [DOID:6370, NCIT:C5833] synonym: "hepatic osteosarcoma" EXACT [NCIT:C5833] synonym: "liver extraskeletal osteosarcoma" EXACT [NCIT:C5833] synonym: "liver osteogenic sarcoma" EXACT [NCIT:C5833] @@ -71415,10 +71417,10 @@ intersection_of: disease_has_location UBERON:0002107 ! liver id: MONDO:0003867 name: diffuse meningeal melanocytosis def: "A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)" [NCIT:P378] -synonym: "diffuse melanocytosis" EXACT [NCIT:C6890] -synonym: "diffuse melanocytosis (morphologic abnormality)" EXACT [DOID:6379] +synonym: "diffuse melanocytosis" EXACT [DOID:6379, NCIT:C6890] +synonym: "diffuse melanocytosis (morphologic abnormality)" EXACT [] synonym: "diffuse melanosis" EXACT [DOID:6379, NCIT:C6890] -synonym: "meningeal melanocytosis" EXACT [NCIT:C6890] +synonym: "meningeal melanocytosis" EXACT [DOID:6379, NCIT:C6890] xref: DOID:6379 {source="MONDO:equivalentTo"} xref: ICDO:8728/0 {source="NCIT:C6890"} xref: MEDGEN:226841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -71448,9 +71450,9 @@ def: "An abnormal growth of the cells that comprise the tissues of the brainstem subset: gard_rare {source="GARD:9306", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brain stem glioma" BROAD [NCIT:C9042] +synonym: "brain stem glioma" BROAD [] synonym: "brain stem glioma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "childhood brain stem glioma" EXACT [NCIT:C9042] +synonym: "childhood brain stem glioma" EXACT [DOID:6383, NCIT:C9042] synonym: "childhood brainstem glioma" EXACT [NCIT:C9042] synonym: "childhood glioma of brain stem" EXACT [NCIT:C9042] synonym: "childhood glioma of brainstem" EXACT [NCIT:C9042] @@ -71488,7 +71490,7 @@ subset: rare synonym: "brain stem astrocytic neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood brain stem astrocytic neoplasm" EXACT [MONDO:design_pattern] synonym: "childhood brain stem astrocytoma" EXACT [NCIT:C6216] -synonym: "childhood brainstem astrocytoma" EXACT [NCIT:C6216] +synonym: "childhood brainstem astrocytoma" EXACT [DOID:6386, NCIT:C6216] synonym: "paediatric brain stem astrocytic neoplasm" EXACT OMO:0003005 [] synonym: "pediatric brain stem astrocytic neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:6386 {source="MONDO:equivalentTo"} @@ -71510,7 +71512,7 @@ replaced_by: MONDO:0006301 id: MONDO:0003872 name: ovarian papillary cystadenoma def: "A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts." [NCIT:C7278] -synonym: "ovarian papillary cystadenoma" EXACT [NCIT:C7278] +synonym: "ovarian papillary cystadenoma" EXACT [DOID:6405, NCIT:C7278] xref: DOID:6405 {source="MONDO:equivalentTo"} xref: MEDGEN:233276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7278 {source="MONDO:equivalentTo", source="DOID:6405", source="MONDO:exact-label-match"} @@ -71522,7 +71524,7 @@ is_a: MONDO:0005183 {source="DOID:6405", source="NCIT:C7278/inferred"} ! ovarian id: MONDO:0003873 name: ovarian surface papilloma def: "A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary." [NCIT:C7279] -synonym: "ovarian surface papilloma" EXACT [NCIT:C7279] +synonym: "ovarian surface papilloma" EXACT [DOID:6407, NCIT:C7279] xref: DOID:6407 {source="MONDO:equivalentTo"} xref: MEDGEN:235423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7279 {source="MONDO:equivalentTo", source="DOID:6407", source="MONDO:exact-label-match"} @@ -71538,7 +71540,7 @@ def: "A serous adenocarcinoma that arises from the ovary and is characterized by subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ovarian serous surface papillary adenocarcinoma" EXACT [NCIT:C6256] -synonym: "ovary papillary carcinoma" EXACT [MONDO:patterns/location] +synonym: "ovary papillary carcinoma" EXACT [DOID:6408, MONDO:patterns/location] synonym: "serous surface papillary carcinoma of ovary" EXACT [DOID:6408, NCIT:C6256] synonym: "serous surface papillary carcinoma of the ovary" EXACT [NCIT:C6256] xref: DOID:6408 {source="MONDO:equivalentTo"} @@ -71558,7 +71560,7 @@ def: "A mature teratoma that arises from the central nervous system during child subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "central nervous system mature teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "childhood central nervous system mature teratoma" EXACT [NCIT:C27404] +synonym: "childhood central nervous system mature teratoma" EXACT [DOID:6423, NCIT:C27404] synonym: "paediatric central nervous system mature teratoma" EXACT OMO:0003005 [] synonym: "pediatric central nervous system mature teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:6423 {source="MONDO:equivalentTo"} @@ -71575,7 +71577,7 @@ name: eyelid carcinoma def: "A carcinoma that arises from epithelial cells of the eyelid." [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoma of eyelid" EXACT [MONDO:patterns/carcinoma, NCIT:C6078] synonym: "carcinoma of the eyelid" EXACT [DOID:6425, NCIT:C6078] -synonym: "eyelid carcinoma" EXACT [MONDO:patterns/location, NCIT:C6078] +synonym: "eyelid carcinoma" EXACT [DOID:6425, MONDO:patterns/location, NCIT:C6078] xref: DOID:6425 {source="MONDO:equivalentTo"} xref: MEDGEN:182526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6078 {source="DOID:6425", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -71603,7 +71605,7 @@ subset: rare synonym: "choroid malignant melanoma" EXACT [NCIT:C4561] synonym: "choroid melanoma" EXACT [NCIT:C4561] synonym: "choroidal melanoma" EXACT [NCIT:C4561] -synonym: "malignant melanoma of choroid" EXACT [NCIT:C4561] +synonym: "malignant melanoma of choroid" EXACT [DOID:6438, NCIT:C4561] synonym: "malignant melanoma of the choroid" EXACT [NCIT:C4561] synonym: "melanoma (disease) of optic choroid" EXACT [] synonym: "melanoma of choroid" EXACT [NCIT:C4561] @@ -71627,7 +71629,7 @@ def: "A malignant neoplasm of the ovary characterized by the presence of maligna subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ovarian endometrioid adenocarcinofibroma" EXACT [NCIT:C40060] -synonym: "ovarian endometrioid malignant adenofibroma" EXACT [NCIT:C40060] +synonym: "ovarian endometrioid malignant adenofibroma" EXACT [DOID:6445, NCIT:C40060] xref: DOID:6445 {source="MONDO:equivalentTo"} xref: ICDO:8381/3 {source="NCIT:C40060"} xref: MEDGEN:276664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -71643,7 +71645,7 @@ name: ceruminous carcinoma def: "An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal." [NCIT:P378] synonym: "carcinoma, ceruminous gland, malignant" EXACT [NCIT:C4176] synonym: "ceruminous adenocarcinoma" EXACT [DOID:6446, NCIT:C4176] -synonym: "ceruminous adenocarcinoma (morphologic abnormality)" EXACT [DOID:6446] +synonym: "ceruminous adenocarcinoma (morphologic abnormality)" EXACT [] xref: DOID:6446 {source="MONDO:equivalentTo"} xref: ICDO:8420/3 {source="NCIT:C4176"} xref: MEDGEN:83135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -71661,7 +71663,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "apocrine adenocarcinoma of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "mammalian vulva apocrine adenocarcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "vulvar apocrine adenocarcinoma" EXACT [NCIT:C40308] +synonym: "vulvar apocrine adenocarcinoma" EXACT [DOID:6448, NCIT:C40308] xref: DOID:6448 {source="MONDO:equivalentTo"} xref: MEDGEN:384494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40308 {source="DOID:6448", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -71678,7 +71680,7 @@ def: "A usually aggressive malignant neoplasm arising from the central nervous s subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "central nervous system fibrosarcoma" EXACT [NCIT:C5465] +synonym: "central nervous system fibrosarcoma" EXACT [DOID:6451, NCIT:C5465] synonym: "central nervous system fibrosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "CNS fibrosarcoma" EXACT [NCIT:C5465] synonym: "fibrosarcoma of central nervous system" EXACT [NCIT:C5465] @@ -71704,8 +71706,8 @@ replaced_by: MONDO:0016728 id: MONDO:0003884 name: lipoma of the rectum def: "A benign adipose tissue neoplasm of the rectum." [NCIT:P378] -synonym: "lipoma of rectum" EXACT [DOID:6459, NCIT:C5551] -synonym: "rectal lipoma" EXACT [NCIT:C5551] +synonym: "lipoma of rectum" EXACT [NCIT:C5551] +synonym: "rectal lipoma" EXACT [DOID:6459, NCIT:C5551] synonym: "rectum lipoma" EXACT [MONDO:patterns/location] xref: DOID:6459 {source="MONDO:equivalentTo"} xref: MEDGEN:233392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -71723,7 +71725,7 @@ name: colorectal lipoma def: "A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum." [NCIT:C5678] synonym: "colorectal lipoma" EXACT [NCIT:C5678] synonym: "large bowel lipoma" EXACT [NCIT:C5678] -synonym: "large intestine lipoma" EXACT [MONDO:patterns/location, NCIT:C5678] +synonym: "large intestine lipoma" EXACT [DOID:6460, MONDO:patterns/location, NCIT:C5678] synonym: "lipoma of large bowel" EXACT [NCIT:C5678] synonym: "lipoma of large intestine" EXACT [DOID:6460, NCIT:C5678] synonym: "lipoma of the large bowel" EXACT [NCIT:C5678] @@ -71742,7 +71744,7 @@ intersection_of: disease_has_location UBERON:0000059 ! large intestine id: MONDO:0003886 name: mucinous cystadenofibroma def: "A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma." [NCIT:C8979] -synonym: "mucinous cystadenofibroma" EXACT [NCIT:C8979] +synonym: "mucinous cystadenofibroma" EXACT [DOID:6468, NCIT:C8979] xref: DOID:6468 {source="MONDO:equivalentTo"} xref: MEDGEN:234608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8979 {source="DOID:6468", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -71758,7 +71760,7 @@ id: MONDO:0003887 name: ovarian mucinous adenofibroma def: "A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma." [NCIT:C40040] synonym: "mucinous adenofibroma of ovary" EXACT [MONDO:design_pattern] -synonym: "ovarian mucinous adenofibroma" EXACT [NCIT:C40040] +synonym: "ovarian mucinous adenofibroma" EXACT [DOID:6469, NCIT:C40040] synonym: "ovary mucinous adenofibroma" EXACT [MONDO:patterns/location] xref: DOID:6469 {source="MONDO:equivalentTo"} xref: MEDGEN:309511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -71775,10 +71777,10 @@ name: childhood testicular mixed embryonal carcinoma and teratoma def: "A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components." [NCIT:C6539] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood teratocarcinoma of testis" RELATED [NCIT:C6539] -synonym: "childhood teratocarcinoma of the testis" RELATED [NCIT:C6539] +synonym: "childhood teratocarcinoma of testis" RELATED [] +synonym: "childhood teratocarcinoma of the testis" RELATED [] synonym: "childhood testicular mixed embryonal carcinoma and teratoma" EXACT [NCIT:C6539] -synonym: "childhood testicular teratocarcinoma" RELATED [NCIT:C6539] +synonym: "childhood testicular teratocarcinoma" RELATED [] synonym: "paediatric testicular teratocarcinoma" EXACT OMO:0003005 [] synonym: "pediatric testicular teratocarcinoma" EXACT [DOID:6474, NCIT:C6539] xref: DOID:6474 {source="MONDO:equivalentTo"} @@ -71793,7 +71795,7 @@ name: infiltrating bladder urothelial carcinoma, clear cell variant def: "An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells." [NCIT:C39827] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "clear cell variant infiltrating bladder urothelial carcinoma" RELATED [DOID:6476] +synonym: "clear cell variant infiltrating bladder urothelial carcinoma" RELATED [] synonym: "infiltrating bladder urothelial carcinoma, clear cell variant" EXACT [NCIT:C39827] xref: DOID:6476 {source="MONDO:equivalentTo"} xref: MEDGEN:268572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -71810,7 +71812,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "infiltrating bladder urothelial carcinoma" EXACT [NCIT:C27885] synonym: "infiltrating transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C27885] -synonym: "invasive bladder transitional cell carcinoma" EXACT [NCIT:C27885] +synonym: "invasive bladder transitional cell carcinoma" EXACT [DOID:6477, NCIT:C27885] synonym: "invasive bladder urothelial carcinoma" EXACT [DOID:6477, NCIT:C27885] synonym: "invasive transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C27885] xref: DOID:6477 {source="MONDO:equivalentTo"} @@ -71826,12 +71828,12 @@ intersection_of: has_characteristic PATO:0002129 ! neoplastic, invasive id: MONDO:0003891 name: bladder signet ring cell adenocarcinoma def: "A signet ring cell carcinoma that involves the urinary bladder." [MONDO:patterns/location] -synonym: "bladder signet ring cell adenocarcinoma" EXACT [NCIT:C6163] -synonym: "signet Ring cell adenocarcinoma of bladder" RELATED [NCIT:C6163] +synonym: "bladder signet ring cell adenocarcinoma" EXACT [DOID:6481, NCIT:C6163] +synonym: "signet Ring cell adenocarcinoma of bladder" RELATED [DOID:6481] synonym: "signet ring cell adenocarcinoma of bladder" RELATED [DOID:6481] -synonym: "signet Ring cell adenocarcinoma of the bladder" RELATED [NCIT:C6163] -synonym: "signet Ring cell adenocarcinoma of the urinary bladder" RELATED [NCIT:C6163] -synonym: "signet Ring cell adenocarcinoma of urinary bladder" RELATED [NCIT:C6163] +synonym: "signet Ring cell adenocarcinoma of the bladder" RELATED [] +synonym: "signet Ring cell adenocarcinoma of the urinary bladder" RELATED [] +synonym: "signet Ring cell adenocarcinoma of urinary bladder" RELATED [] synonym: "urinary bladder signet Ring adenocarcinoma" EXACT [DOID:6481, NCIT:C6163] synonym: "urinary bladder signet ring cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:6481 {source="MONDO:equivalentTo"} @@ -71852,8 +71854,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acinar adenocarcinoma of lung" EXACT [NCIT:C5649] synonym: "acinar adenocarcinoma of the lung" EXACT [DOID:6482, NCIT:C5649] -synonym: "acinar lung adenocarcinoma" EXACT [NCIT:C5649] -synonym: "lung acinar adenocarcinoma" RELATED [DOID:6482] +synonym: "acinar lung adenocarcinoma" EXACT [] +synonym: "lung acinar adenocarcinoma" RELATED [] xref: DOID:6482 {source="MONDO:equivalentTo"} xref: MEDGEN:233130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5649 {source="MONDO:equivalentTo", source="DOID:6482"} @@ -71865,7 +71867,7 @@ id: MONDO:0003893 name: rete testis adenoma def: "A benign epithelial neoplasm arising from the rete testis." [NCIT:C39956] synonym: "adenoma, rete testis, benign" EXACT [NCIT:C39956] -synonym: "rete testis adenoma" EXACT [MONDO:patterns/location, NCIT:C39956] +synonym: "rete testis adenoma" EXACT [DOID:6483, MONDO:patterns/location, NCIT:C39956] xref: DOID:6483 {source="MONDO:equivalentTo"} xref: MEDGEN:308161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39956 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6483"} @@ -71903,7 +71905,7 @@ synonym: "juxtacortical chondroblastic osteosarcoma" EXACT [NCIT:C8970] synonym: "PEOS" RELATED ABBREVIATION [ONCOTREE:PEOS] synonym: "periosteal osteogenic sarcoma" EXACT [DOID:6489] synonym: "periosteal osteosarcoma" EXACT [DOID:6489, MTH:NOCODE, NCIT:C8970] -synonym: "periosteal osteosarcoma (morphologic abnormality)" EXACT [DOID:6489] +synonym: "periosteal osteosarcoma (morphologic abnormality)" EXACT [] xref: DOID:6489 {source="MONDO:equivalentTo"} xref: ICDO:9193/3 {source="NCIT:C8970"} xref: MEDGEN:234607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -71919,7 +71921,7 @@ id: MONDO:0003896 name: breast capillary hemangioma def: "A capillary hemangioma arising from the breast." [NCIT:C5210] synonym: "breast capillary angioma" EXACT [NCIT:C5210] -synonym: "breast capillary hemangioma" EXACT [MONDO:patterns/location, NCIT:C5210] +synonym: "breast capillary hemangioma" EXACT [DOID:6491, MONDO:patterns/location, NCIT:C5210] synonym: "capillary angioma of breast" EXACT [DOID:6491, NCIT:C5210] synonym: "capillary angioma of the breast" EXACT [NCIT:C5210] synonym: "capillary hemangioma of breast" EXACT [NCIT:C5210] @@ -71940,7 +71942,7 @@ name: breast epithelioid hemangioma def: "A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast." [NCIT:C5211] subset: inferred_rare subset: rare -synonym: "breast epithelioid hemangioma" EXACT [NCIT:C5211] +synonym: "breast epithelioid hemangioma" EXACT [DOID:6492, NCIT:C5211] synonym: "breast histiocytoid hemangioma" EXACT [DOID:6492, MONDO:patterns/location, NCIT:C5211] synonym: "epithelioid breast hemangioma" EXACT [NCIT:C5211] synonym: "epithelioid hemangioma of breast" EXACT [NCIT:C5211] @@ -71963,9 +71965,9 @@ name: pediatric myxoid chondrosarcoma def: "A myxoid chondrosarcoma occurring in children." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood myxoid chondrosarcoma" EXACT [NCIT:C27377] +synonym: "childhood myxoid chondrosarcoma" EXACT [DOID:6494, NCIT:C27377] synonym: "myxoid chondrosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "pediatric myxoid chondrosarcoma" EXACT [MONDO:patterns/childhood, NCIT:C27377] +synonym: "pediatric myxoid chondrosarcoma" EXACT [DOID:6494, MONDO:patterns/childhood, NCIT:C27377] xref: DOID:6494 {source="MONDO:equivalentTo"} xref: MEDGEN:232065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27377 {source="MONDO:equivalentTo", source="DOID:6494"} @@ -71981,7 +71983,7 @@ name: adult myxoid chondrosarcoma def: "A myxoid chondrosarcoma occurring in adults." [NCIT:C27378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult myxoid chondrosarcoma" EXACT [NCIT:C27378] +synonym: "adult myxoid chondrosarcoma" EXACT [] synonym: "myxoid chondrosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:6495 {source="MONDO:equivalentObsolete"} xref: MEDGEN:312875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -71998,17 +72000,17 @@ def: "A disease involving the connective tissue." [https://orcid.org/0000-0002-6 comment: Following clinical usage of the term 'connective tissue disorder' this grouping excludes some diseases affecting tissues classically considered to be connective tissue, such as bone. subset: otar {source="MONDO:OTAR"} subset: rare_grouping -synonym: "connective tissue disease" EXACT [MONDO:patterns/location] +synonym: "connective tissue disease" EXACT [DOID:65, MONDO:patterns/location, NCIT:C26729] synonym: "connective tissue disease or disorder" EXACT [MONDO:patterns/location] synonym: "connective tissue diseases" EXACT [NCIT:C26729] -synonym: "connective tissue disorder" EXACT [DOID:65] +synonym: "connective tissue disorder" EXACT [DOID:65, NCIT:C26729] synonym: "connective tissue disorders" EXACT [NCIT:C26729] synonym: "disease of connective tissue" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of connective tissue" EXACT [] -synonym: "disease, connective tissue" EXACT [NCIT:C26729] -synonym: "disorder of connective tissue" EXACT [DOID:65, MONDO:patterns/location_top] +synonym: "disease, connective tissue" EXACT [] +synonym: "disorder of connective tissue" EXACT [DOID:65, MONDO:patterns/location_top, NCIT:C26729] synonym: "primary disorder of connective tissue" EXACT [NCIT:C26729] -synonym: "tissue disease, connective" EXACT [NCIT:C26729] +synonym: "tissue disease, connective" EXACT [] xref: DOID:65 {source="MONDO:equivalentTo"} xref: EFO:1001986 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:M00-M99 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -72038,7 +72040,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "angioblastoma of cerebellum" EXACT [NCIT:C5146] synonym: "angioblastoma of the cerebellum" EXACT [NCIT:C5146] -synonym: "cerebellar angioblastoma" EXACT [NCIT:C5146] +synonym: "cerebellar angioblastoma" EXACT [DOID:6500, NCIT:C5146] synonym: "cerebellar capillary hemangioblastoma" EXACT [NCIT:C5146] synonym: "cerebellar hemangioblastoma" EXACT [NCIT:C5146] synonym: "cerebellum hemangioblastoma" EXACT [MONDO:patterns/location] @@ -72063,7 +72065,7 @@ synonym: "angioblastoma of brain stem" EXACT [NCIT:C5147] synonym: "angioblastoma of brainstem" EXACT [NCIT:C5147] synonym: "angioblastoma of the brain stem" EXACT [NCIT:C5147] synonym: "angioblastoma of the brainstem" EXACT [NCIT:C5147] -synonym: "brain stem angioblastoma" EXACT [NCIT:C5147] +synonym: "brain stem angioblastoma" EXACT [DOID:6501, NCIT:C5147] synonym: "brain stem capillary hemangioblastoma" EXACT [NCIT:C5147] synonym: "brain stem hemangioblastoma" EXACT [NCIT:C5147] synonym: "brainstem angioblastoma" EXACT [NCIT:C5147] @@ -72085,7 +72087,7 @@ id: MONDO:0003903 name: benign vaginal mixed tumor def: "A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells." [NCIT:C40280] synonym: "benign vaginal mixed tumor" EXACT [NCIT:C40280] -synonym: "vaginal spindle cell epithelioma" EXACT [NCIT:C40280] +synonym: "vaginal spindle cell epithelioma" EXACT [DOID:6505, NCIT:C40280] xref: DOID:6505 {source="MONDO:equivalentTo"} xref: MEDGEN:267350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40280 {source="DOID:6505", source="MONDO:equivalentTo"} @@ -72111,7 +72113,7 @@ name: ovarian yolk sac tumor, glandular pattern def: "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures." [NCIT:C39988] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glandular pattern ovarian yolk sac tumor" RELATED [DOID:6511] +synonym: "glandular pattern ovarian yolk sac tumor" RELATED [] synonym: "glandular pattern ovarian yolk sac tumour" RELATED OMO:0003005 [] synonym: "ovarian yolk Sac tumor, glandular pattern" EXACT [NCIT:C39988] xref: DOID:6511 {source="MONDO:equivalentTo"} @@ -72126,7 +72128,7 @@ name: ovarian yolk sac tumor, hepatoid pattern def: "A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue." [NCIT:C39989] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "hepatoid pattern ovarian yolk sac tumor" RELATED [DOID:6512] +synonym: "hepatoid pattern ovarian yolk sac tumor" RELATED [] synonym: "hepatoid pattern ovarian yolk sac tumour" RELATED OMO:0003005 [] synonym: "ovarian yolk Sac tumor, hepatoid pattern" EXACT [NCIT:C39989] xref: DOID:6512 {source="MONDO:equivalentTo"} @@ -72142,7 +72144,7 @@ def: "A yolk sac tumor that arises from the ovary and is characterized by the pr subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ovarian yolk sac tumor, polyvesicular vitelline pattern" EXACT [NCIT:C39987] -synonym: "polyvesicular vitelline pattern ovarian yolk sac tumor" RELATED [DOID:6514] +synonym: "polyvesicular vitelline pattern ovarian yolk sac tumor" RELATED [] synonym: "polyvesicular vitelline pattern ovarian yolk sac tumour" RELATED OMO:0003005 [] xref: DOID:6514 {source="MONDO:equivalentTo"} xref: MEDGEN:309521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72174,7 +72176,7 @@ id: MONDO:0003909 name: Bartholin gland adenomyoma def: "A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture." [NCIT:P378] synonym: "adenomyoma of major vestibular gland" EXACT [MONDO:design_pattern] -synonym: "Bartholin gland adenomyoma" EXACT [DOID:6518] +synonym: "Bartholin gland adenomyoma" EXACT [DOID:6518, NCIT:C40300] synonym: "major vestibular gland adenomyoma" EXACT [MONDO:patterns/location] xref: DOID:6518 {source="MONDO:equivalentTo"} xref: MEDGEN:307248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72195,7 +72197,7 @@ def: "A melanoma arising from the choroid, ciliary body, or the iris. It is char subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mixed cell uveal melanoma" EXACT [MONDO:0006305, NCIT:C35781] +synonym: "mixed cell uveal melanoma" EXACT [DOID:6522, MONDO:0006305, NCIT:C35781] xref: DOID:6522 {source="MONDO:equivalentTo"} xref: EFO:1000380 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:235330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72210,7 +72212,7 @@ def: "A mixed cell uveal melanoma that involves the ciliary body." [MONDO:patter subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ciliary body mixed cell melanoma" EXACT [NCIT:C35783] +synonym: "ciliary body mixed cell melanoma" EXACT [DOID:6523, NCIT:C35783] synonym: "ciliary body mixed cell uveal melanoma" EXACT [MONDO:patterns/location] synonym: "mixed cell uveal melanoma of ciliary body" EXACT [MONDO:design_pattern] xref: DOID:6523 {source="MONDO:equivalentTo"} @@ -72233,7 +72235,7 @@ subset: rare synonym: "ciliary body malignant melanoma" EXACT [NCIT:C4558] synonym: "ciliary body melanoma" EXACT [NCIT:C4558] synonym: "ciliary body melanoma (disease)" EXACT [MONDO:patterns/location] -synonym: "malignant melanoma of ciliary body" EXACT [NCIT:C4558] +synonym: "malignant melanoma of ciliary body" EXACT [DOID:6524, NCIT:C4558] synonym: "malignant melanoma of the ciliary body" EXACT [NCIT:C4558] synonym: "melanoma (disease) of ciliary body" EXACT [] synonym: "melanoma of ciliary body" EXACT [NCIT:C4558] @@ -72255,7 +72257,7 @@ name: choroid mixed cell melanoma def: "A mixed cell uveal melanoma that involves the optic choroid." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "choroid mixed cell melanoma" EXACT [NCIT:C35782] +synonym: "choroid mixed cell melanoma" EXACT [DOID:6525, NCIT:C35782] synonym: "mixed cell uveal melanoma of optic choroid" EXACT [MONDO:design_pattern] synonym: "optic choroid mixed cell uveal melanoma" EXACT [MONDO:patterns/location] xref: DOID:6525 {source="MONDO:equivalentTo"} @@ -72280,9 +72282,9 @@ def: "A thymic epithelial neoplasm characterized by the presence of neoplastic l subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cortical thymoma" EXACT [NCIT:C6888] +synonym: "cortical thymoma" EXACT [DOID:6530, NCIT:C6888] synonym: "polygonal cell thymoma" EXACT [DOID:6530, NCIT:C6888] -synonym: "thymoma type B2" EXACT [NCIT:C6888] +synonym: "thymoma type B2" EXACT [DOID:6530, NCIT:C6888] synonym: "thymoma, cortical" EXACT [DOID:6530] xref: DOID:6530 {source="MONDO:equivalentTo"} xref: ICDO:8584/1 {source="NCIT:C6888"} @@ -72313,10 +72315,10 @@ def: "An extranodal lymphoma that arises from the heart and/or the pericardium. subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Cardiac lymphoma" EXACT [NCIT:C5368] -synonym: "heart lymphoma" EXACT [MONDO:patterns/location, NCIT:C5368] +synonym: "heart lymphoma" EXACT [DOID:6547, MONDO:patterns/location, NCIT:C5368] synonym: "lymphoma of heart" EXACT [DOID:6547, NCIT:C5368] synonym: "lymphoma of the heart" EXACT [NCIT:C5368] -synonym: "PCL" EXACT ABBREVIATION [NCIT:C5368] +synonym: "PCL" EXACT ABBREVIATION [] synonym: "primary Cardiac lymphoma" EXACT [NCIT:C5368] synonym: "Primary heart lymphoma" EXACT [NCIT:C5368] xref: DOID:6547 {source="MONDO:equivalentTo"} @@ -72334,7 +72336,7 @@ name: angiomatous meningioma def: "A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." [NCIT:C4332] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "angiomatous meningioma (morphologic abnormality)" EXACT [DOID:6548] +synonym: "angiomatous meningioma (morphologic abnormality)" EXACT [] xref: DOID:6548 {source="MONDO:equivalentTo"} xref: ICDO:9534/0 {source="NCIT:C4332"} xref: MEDGEN:87274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72378,7 +72380,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ovarian clear cell adenocarcinofibroma" EXACT [DOID:6554, NCIT:C40079] -synonym: "ovarian clear cell malignant adenofibroma" EXACT [NCIT:C40079] +synonym: "ovarian clear cell malignant adenofibroma" EXACT [DOID:6554, NCIT:C40079] xref: DOID:6554 {source="MONDO:equivalentTo"} xref: ICDO:8313/3 {source="NCIT:C40079"} xref: MEDGEN:384483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72392,8 +72394,8 @@ name: ethmoid sinus Schneiderian papilloma def: "A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6836] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ethmoid sinus Schneiderian papilloma" EXACT [NCIT:C6836] -synonym: "Schneiderian papilloma of ethmoid sinus" RELATED [NCIT:C6836] +synonym: "ethmoid sinus Schneiderian papilloma" EXACT [DOID:6559, NCIT:C6836] +synonym: "Schneiderian papilloma of ethmoid sinus" RELATED [] synonym: "Schneiderian papilloma of the ethmoid sinus" EXACT [DOID:6559, NCIT:C6836] xref: DOID:6559 {source="MONDO:equivalentTo"} xref: MEDGEN:232474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72414,14 +72416,14 @@ subset: rare synonym: "adenoma of adrenal cortex" EXACT [NCIT:C9003] synonym: "adenoma of adrenal gland" EXACT [NCIT:C9003] synonym: "adenoma of the adrenal cortex" EXACT [NCIT:C9003] -synonym: "adenoma of the adrenal gland" EXACT [DOID:656, NCIT:C3906, NCIT:C9003] +synonym: "adenoma of the adrenal gland" EXACT [DOID:656, NCIT:C9003] synonym: "adenoma, adrenocortical, benign" EXACT [NCIT:C9003] -synonym: "adrenal adenoma" EXACT [NCIT:C9003] +synonym: "adrenal adenoma" EXACT [DOID:656, NCIT:C9003] synonym: "adrenal cortex adenoma" EXACT [MONDO:patterns/location, NCIT:C9003] -synonym: "adrenal cortical adenoma" EXACT [NCIT:C9003] +synonym: "adrenal cortical adenoma" EXACT [DOID:0050891, NCIT:C9003] synonym: "adrenal gland adenoma" EXACT [NCIT:C9003] synonym: "adrenal incidentaloma" RELATED [GARD:0005745] -synonym: "adrenocortical adenoma" EXACT [GARD:0005745, NCIT:C9003] +synonym: "adrenocortical adenoma" EXACT [DOID:0050891, GARD:0005745, NCIT:C9003] synonym: "benign adenoma of adrenal gland" EXACT [NCIT:C9003] synonym: "benign adenoma of the adrenal gland" EXACT [NCIT:C9003] synonym: "benign adrenal adenoma" EXACT [NCIT:C9003] @@ -72455,7 +72457,7 @@ name: ethmoid sinus inverted papilloma def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." [NCIT:C6843] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ethmoid sinus inverted papilloma" EXACT [MONDO:patterns/location] +synonym: "ethmoid sinus inverted papilloma" EXACT [DOID:6562, MONDO:patterns/location, NCIT:C6843] synonym: "inverted papilloma of ethmoid sinus" EXACT [NCIT:C6843] synonym: "inverted papilloma of the ethmoid sinus" EXACT [DOID:6562, NCIT:C6843] xref: DOID:6562 {source="MONDO:equivalentTo"} @@ -72494,8 +72496,8 @@ id: MONDO:0003927 name: posterior uveal melanoma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "medium/large size posterior uveal melanoma" NARROW [DOID:6566] -synonym: "small size posterior uveal melanoma" NARROW [DOID:6566] +synonym: "medium/large size posterior uveal melanoma" NARROW [] +synonym: "small size posterior uveal melanoma" NARROW [] xref: DOID:6566 {source="MONDO:equivalentTo"} xref: NCIT:C9089 {source="DOID:6566"} xref: NCIT:C9090 {source="DOID:6566"} @@ -72509,7 +72511,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "body of uterus myxoid leiomyosarcoma" EXACT [MONDO:patterns/location] synonym: "myxoid leiomyosarcoma of body of uterus" EXACT [MONDO:design_pattern] -synonym: "uterine corpus myxoid leiomyosarcoma" EXACT [NCIT:C40175] +synonym: "uterine corpus myxoid leiomyosarcoma" EXACT [DOID:6567, NCIT:C40175] synonym: "uterine myxoid leiomyosarcoma" RELATED [ONCOTREE:UMLMS] xref: DOID:6567 {source="MONDO:equivalentTo"} xref: MEDGEN:311426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72525,7 +72527,7 @@ intersection_of: disease_has_location UBERON:0009853 ! body of uterus id: MONDO:0003929 name: vestibular micropapillomatosis def: "A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva." [NCIT:C40290] -synonym: "micropapillomatosis labialis" EXACT [NCIT:C40290] +synonym: "micropapillomatosis labialis" EXACT [DOID:6569, NCIT:C40290] synonym: "vestibular micropapillomatosis" EXACT [NCIT:C40290] xref: DOID:6569 {source="MONDO:equivalentTo"} xref: MEDGEN:275589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72539,10 +72541,10 @@ name: non-invasive bladder urothelial carcinoma def: "Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: \"flat tumor\". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)" [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "non-invasive bladder urothelial carcinoma" EXACT [NCIT:C6188] +synonym: "non-invasive bladder urothelial carcinoma" EXACT [DOID:6571, NCIT:C6188] synonym: "stage 0 bladder urothelial cancer" EXACT [NCIT:C6188] synonym: "stage 0 bladder urothelial carcinoma" EXACT [NCIT:C6188] -synonym: "stage 0 bladder urothelial carcinoma aJCC v6" EXACT [NCIT:C6188] +synonym: "stage 0 bladder urothelial carcinoma aJCC v6" EXACT [] synonym: "stage 0 bladder urothelial carcinoma aJCC v6 and v7" EXACT [NCIT:C6188] synonym: "stage 0 bladder urothelial carcinoma aJCC v7" EXACT [NCIT:C6188] synonym: "stage 0 transitional cell carcinoma of bladder" EXACT [NCIT:C6188] @@ -72562,12 +72564,12 @@ name: childhood optic tract astrocytoma def: "An astrocytoma that arises from the visual pathway and occurs during childhood." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood optic tract astrocytoma" EXACT [NCIT:C7534] +synonym: "childhood optic tract astrocytoma" EXACT [DOID:6575] synonym: "childhood visual pathway astrocytoma" EXACT [NCIT:C7534] synonym: "optic tract astrocytoma of childhood" EXACT [MONDO:patterns/childhood] synonym: "paediatric optic tract astrocytoma" EXACT OMO:0003005 [] synonym: "paediatric visual pathway astrocytoma" EXACT OMO:0003005 [] -synonym: "pediatric optic tract astrocytoma" EXACT [MONDO:patterns/childhood, NCIT:C7534] +synonym: "pediatric optic tract astrocytoma" EXACT [MONDO:patterns/childhood] synonym: "pediatric visual pathway astrocytoma" EXACT [DOID:6575, NCIT:C7534] xref: DOID:6575 {source="MONDO:equivalentTo"} xref: MEDGEN:232072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72585,7 +72587,7 @@ name: childhood optic nerve glioma def: "A glioma affecting the optic tract and occurring in childhood." [NCIT:C7535] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood optic tract glioma" EXACT [NCIT:C7535] +synonym: "childhood optic tract glioma" EXACT [] synonym: "childhood visual pathway glioma" EXACT [NCIT:C7535] synonym: "glioma of childhood visual pathway" EXACT [NCIT:C7535] synonym: "glioma of paediatric visual pathway" EXACT OMO:0003005 [] @@ -72598,10 +72600,10 @@ synonym: "paediatric optic nerve glioma" EXACT OMO:0003005 [] synonym: "paediatric optic tract glioma" EXACT OMO:0003005 [] synonym: "paediatric visual pathway glioma" EXACT OMO:0003005 [] synonym: "pediatric optic nerve glioma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "pediatric optic tract glioma" EXACT [NCIT:C7535] +synonym: "pediatric optic tract glioma" EXACT [] synonym: "pediatric visual pathway glioma" EXACT [NCIT:C7535] synonym: "visual pathway and hypothalamic glioma, childhood" RELATED [GARD:0009309] -synonym: "visual pathway glioma" BROAD [NCIT:C7535] +synonym: "visual pathway glioma" BROAD [] xref: DOID:6576 {source="MONDO:equivalentTo"} xref: MEDGEN:124487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D020339 {source="DOID:6576"} @@ -72620,7 +72622,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "bone cancer of chest wall" EXACT [MONDO:design_pattern] -synonym: "chest wall bone cancer" EXACT [MONDO:patterns/location] +synonym: "chest wall bone cancer" EXACT [DOID:6579, MONDO:patterns/location] synonym: "malignant bone neoplasm of chest wall" RELATED [DOID:6579] synonym: "malignant bone neoplasm of the chest wall" EXACT [NCIT:C6724] synonym: "malignant bone tumor of chest wall" EXACT [NCIT:C6724] @@ -72646,7 +72648,7 @@ name: breast apocrine carcinoma def: "An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles." [NCIT:C5141] synonym: "apocrine adenocarcinoma of breast" EXACT [MONDO:design_pattern] synonym: "apocrine breast carcinoma" EXACT [NCIT:C5141] -synonym: "apocrine carcinoma of breast" EXACT [DOID:6581, NCIT:C5141] +synonym: "apocrine carcinoma of breast" EXACT [NCIT:C5141] synonym: "apocrine carcinoma of the breast" EXACT [NCIT:C5141] synonym: "breast apocrine adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "breast apocrine carcinoma" EXACT [DOID:6581, NCIT:C5141] @@ -72664,7 +72666,7 @@ intersection_of: disease_has_location UBERON:0000310 ! breast id: MONDO:0003935 name: oncocytic breast carcinoma def: "A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population." [NCIT:C40366] -synonym: "oncocytic breast carcinoma" EXACT [NCIT:C40366] +synonym: "oncocytic breast carcinoma" EXACT [DOID:6585, NCIT:C40366] xref: DOID:6585 {source="MONDO:equivalentTo"} xref: MEDGEN:309476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40366 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6585"} @@ -72680,7 +72682,7 @@ synonym: "breast tubular adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "infiltrating tubular breast carcinoma" EXACT [NCIT:C9135] synonym: "infiltrating tubular carcinoma of breast" EXACT [NCIT:C9135] synonym: "infiltrating tubular carcinoma of the breast" EXACT [NCIT:C9135] -synonym: "invasive tubular breast carcinoma" EXACT [NCIT:C9135] +synonym: "invasive tubular breast carcinoma" EXACT [DOID:6587, NCIT:C9135] synonym: "invasive tubular carcinoma of breast" EXACT [DOID:6587, NCIT:C9135] synonym: "invasive tubular carcinoma of the breast" EXACT [NCIT:C9135] synonym: "tubular breast cancer" EXACT [NCIT:C9135] @@ -72725,7 +72727,7 @@ relationship: excluded_subClassOf MONDO:0005095 {source="DOID:6590", source="htt [Term] id: MONDO:0003938 name: bladder colonic type adenocarcinoma -synonym: "bladder colonic type adenocarcinoma" EXACT [NCIT:C39835] +synonym: "bladder colonic type adenocarcinoma" EXACT [DOID:6594, NCIT:C39835] synonym: "bladder enteric type adenocarcinoma" EXACT [NCIT:C39835] xref: DOID:6594 {source="MONDO:equivalentTo"} xref: MEDGEN:267371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72747,7 +72749,7 @@ synonym: "disorder of muscle organ" EXACT [MONDO:patterns/location_top] synonym: "disorder of muscle tissue" EXACT [MONDO:patterns/location_top] synonym: "muscle organ disease" EXACT [MONDO:patterns/location] synonym: "muscle organ disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "muscle tissue disease" EXACT [MONDO:patterns/location] +synonym: "muscle tissue disease" EXACT [DOID:66, MONDO:patterns/location] synonym: "muscle tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "muscular disorder" EXACT [MONDO:0005218] xref: DOID:0080000 {source="EFO:0002970", source="MONDO:equivalentTo"} @@ -72770,10 +72772,10 @@ subset: rare synonym: "avascular necrosis of a vertebral body" EXACT [PMID:23814399] synonym: "bony vertebral centrum osteonecrosis" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Kummell disease" EXACT [DOID:6603] -synonym: "Kummell's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Kummell's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:6603, MONDO:LexicalVariant] synonym: "Kummell's spondylitis" EXACT [DOID:6603] synonym: "osteonecrosis of bony vertebral centrum" EXACT [MONDO:design_pattern] -synonym: "traumatic spondylopathy" EXACT [DOID:6603, ICD9CM:721.7] +synonym: "traumatic spondylopathy" EXACT [DOID:6603, ICD10CM:M48.3, ICD9CM:721.7] xref: DOID:6603 {source="MONDO:equivalentTo"} xref: ICD10CM:M48.3 {source="MONDO:equivalentTo", source="DOID:6603"} xref: ICD9:721.7 {source="MONDO:equivalentTo", source="DOID:6603", source="MONDO:i2s"} @@ -72794,7 +72796,7 @@ id: MONDO:0003941 name: classic variant of chromophobe renal cell carcinoma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "classic variant of chromophobe renal cell carcinoma" EXACT [NCIT:C27888] +synonym: "classic variant of chromophobe renal cell carcinoma" EXACT [DOID:6605, NCIT:C27888] xref: DOID:6605 {source="MONDO:equivalentTo"} xref: MEDGEN:232080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27888 {source="MONDO:equivalentTo", source="DOID:6605", source="MONDO:exact-label-match"} @@ -72806,7 +72808,7 @@ id: MONDO:0003942 name: eosinophilic variant of chromophobe renal cell carcinoma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "eosinophilic variant of chromophobe renal cell carcinoma" EXACT [NCIT:C27889] +synonym: "eosinophilic variant of chromophobe renal cell carcinoma" EXACT [DOID:6606, NCIT:C27889] xref: DOID:6606 {source="MONDO:equivalentTo"} xref: MEDGEN:232458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27889 {source="MONDO:equivalentTo", source="DOID:6606", source="MONDO:exact-label-match"} @@ -72821,7 +72823,7 @@ synonym: "central nervous system hibernoma" EXACT [MONDO:patterns/location, NCIT synonym: "hibernoma of central nervous system" EXACT [NCIT:C6997] synonym: "hibernoma of nervous system" EXACT [DOID:6607] synonym: "hibernoma of the central nervous system" EXACT [NCIT:C6997] -synonym: "nervous system hibernoma" RELATED [DOID:6607] +synonym: "nervous system hibernoma" RELATED [] xref: DOID:6607 {source="MONDO:equivalentTo"} xref: MEDGEN:317749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6997 {source="MONDO:equivalentTo"} @@ -72836,7 +72838,7 @@ id: MONDO:0003944 name: endobronchial leiomyoma def: "A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5661] synonym: "bronchus lung leiomyoma" EXACT [MONDO:patterns/location] -synonym: "endobronchial leiomyoma" EXACT [NCIT:C5661] +synonym: "endobronchial leiomyoma" EXACT [DOID:6608, NCIT:C5661] synonym: "lung leiomyoma of bronchus" EXACT [MONDO:design_pattern] xref: DOID:6608 {source="MONDO:equivalentTo"} xref: MEDGEN:232455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72854,8 +72856,8 @@ comment: Editor note: DO classifies this as benign subset: inferred_rare subset: rare synonym: "bone epithelioid angioma" EXACT [NCIT:C5396] -synonym: "bone epithelioid hemangioma" EXACT [NCIT:C5396] -synonym: "bone hemangioma" BROAD [DOID:6610] +synonym: "bone epithelioid hemangioma" EXACT [DOID:6610, NCIT:C5396] +synonym: "bone hemangioma" BROAD [] synonym: "epithelioid angioma of bone" EXACT [NCIT:C5396] synonym: "epithelioid angioma of the bone" EXACT [NCIT:C5396] synonym: "epithelioid hemangioma of bone" EXACT [NCIT:C5396] @@ -72863,7 +72865,7 @@ synonym: "epithelioid hemangioma of the bone" EXACT [NCIT:C5396] synonym: "hemangioma of bone" EXACT [DOID:6610] synonym: "osseous epithelioid angioma" EXACT [NCIT:C5396] synonym: "osseous epithelioid hemangioma" EXACT [DOID:6610, NCIT:C5396] -synonym: "osseous hemangioma" EXACT [DOID:6610, NCIT:C6477] +synonym: "osseous hemangioma" EXACT [DOID:6610] xref: DOID:6610 {source="MONDO:equivalentTo"} xref: MEDGEN:231951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5396 {source="DOID:6610", source="MONDO:equivalentTo"} @@ -72878,7 +72880,7 @@ id: MONDO:0003946 name: vaginal villous adenoma def: "An adenoma that arises from the vagina and is characterized by a villous architectural pattern." [NCIT:C40259] synonym: "vagina villous adenoma" EXACT [MONDO:patterns/location] -synonym: "vaginal villous adenoma" EXACT [NCIT:C40259] +synonym: "vaginal villous adenoma" EXACT [DOID:6613, NCIT:C40259] xref: DOID:6613 {source="MONDO:equivalentTo"} xref: MEDGEN:275577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40259 {source="DOID:6613", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -72895,8 +72897,8 @@ def: "A primary immune deficiency disorder characterized by defective CD40 signa subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyperimmunoglobulin M syndrome" RELATED [NCIT:C3990] -synonym: "immunodeficiency with hyper-IgM" EXACT [MONDO:0000047, NCIT:C84783] +synonym: "hyperimmunoglobulin M syndrome" RELATED [] +synonym: "immunodeficiency with hyper-IgM" EXACT [DOID:0080544, MONDO:0000047, NCIT:C84783, OMIMPS:308230] xref: DOID:0080544 {source="MONDO:equivalentTo"} xref: ICD9:279.05 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:124420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -72922,7 +72924,7 @@ synonym: "angioma of cerebral hemispheres" EXACT [NCIT:C5433] synonym: "angioma of cerebrum" EXACT [NCIT:C5433] synonym: "angioma of the cerebral hemispheres" EXACT [NCIT:C5433] synonym: "angioma of the cerebrum" EXACT [NCIT:C5433] -synonym: "cerebral angioma" EXACT [NCIT:C5433] +synonym: "cerebral angioma" EXACT [DOID:6621, NCIT:C5433] synonym: "cerebral hemangioma" EXACT [NCIT:C5433] synonym: "cerebral hemispheric angioma" EXACT [NCIT:C5433] synonym: "cerebral hemispheric hemangioma" EXACT [NCIT:C5433] @@ -72953,7 +72955,7 @@ name: nipple carcinoma def: "A carcinoma that arises from epithelial cells of the nipple" [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoma of nipple" EXACT [MONDO:patterns/carcinoma] synonym: "nipple cancer" EXACT [NCIT:C28432] -synonym: "nipple carcinoma" EXACT [MONDO:patterns/location, NCIT:C28432] +synonym: "nipple carcinoma" EXACT [DOID:6629, MONDO:patterns/location, NCIT:C28432] xref: DOID:6629 {source="MONDO:equivalentTo"} xref: MEDGEN:233756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C28432 {source="MONDO:equivalentTo", source="DOID:6629", source="MONDO:exact-label-match"} @@ -72971,7 +72973,7 @@ synonym: "angioma of scrotum" EXACT [NCIT:C6387] synonym: "angioma of the scrotum" EXACT [NCIT:C6387] synonym: "hemangioma of scrotum" EXACT [DOID:663, NCIT:C6387] synonym: "hemangioma of the scrotum" EXACT [NCIT:C6387] -synonym: "scrotal angioma" EXACT [NCIT:C6387] +synonym: "scrotal angioma" EXACT [DOID:663, NCIT:C6387] synonym: "scrotal hemangioma" EXACT [NCIT:C6387] synonym: "scrotum hemangioma" EXACT [MONDO:patterns/location] xref: DOID:663 {source="MONDO:equivalentTo"} @@ -72990,10 +72992,10 @@ def: "A choriocarcinoma of the central nervous system that occurs in an adult." subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "adult central nervous system choriocarcinoma" EXACT [NCIT:C5793] +synonym: "adult central nervous system choriocarcinoma" EXACT [DOID:6634, NCIT:C5793] synonym: "adult choriocarcinoma of the central nervous system" EXACT [MONDO:design_pattern] synonym: "adult CNS choriocarcinoma" EXACT [NCIT:C5793] -synonym: "central nervous system choriocarcinoma" BROAD [NCIT:C5793] +synonym: "central nervous system choriocarcinoma" BROAD [] synonym: "choriocarcinoma of adult central nervous system" EXACT [NCIT:C5793] synonym: "choriocarcinoma of adult CNS" EXACT [NCIT:C5793] synonym: "choriocarcinoma of the adult central nervous system" EXACT [DOID:6634, NCIT:C5793] @@ -73018,7 +73020,7 @@ subset: rare synonym: "Central nervous system choriocarcinoma" EXACT [NCIT:C6206] synonym: "childhood central nervous system choriocarcinoma" EXACT [NCIT:C6206] synonym: "childhood choriocarcinoma of the central nervous system" EXACT [MONDO:design_pattern] -synonym: "childhood CNS choriocarcinoma" EXACT [NCIT:C6206] +synonym: "childhood CNS choriocarcinoma" EXACT [DOID:6639, NCIT:C6206] synonym: "choriocarcinoma of childhood central nervous system" EXACT [NCIT:C6206] synonym: "choriocarcinoma of childhood CNS" EXACT [NCIT:C6206] synonym: "choriocarcinoma of paediatric central nervous system" EXACT OMO:0003005 [] @@ -73028,7 +73030,7 @@ synonym: "choriocarcinoma of pediatric CNS" EXACT [NCIT:C6206] synonym: "choriocarcinoma of the central nervous system of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "choriocarcinoma of the childhood central nervous system" EXACT [NCIT:C6206] synonym: "choriocarcinoma of the childhood CNS" EXACT [NCIT:C6206] -synonym: "choriocarcinoma of the paediatric central nervous system" EXACT OMO:0003005 [] +synonym: "choriocarcinoma of the paediatric central nervous system" EXACT OMO:0003005 [DOID:6639] synonym: "choriocarcinoma of the paediatric CNS" EXACT OMO:0003005 [] synonym: "choriocarcinoma of the pediatric central nervous system" EXACT [DOID:6639, NCIT:C6206] synonym: "choriocarcinoma of the pediatric CNS" EXACT [NCIT:C6206] @@ -73051,7 +73053,7 @@ name: angiokeratoma of Fordyce def: "An angiokeratoma that is located on the scrotum or vulva." [http://www.patientcareonline.com/skin-diseases/fordyce-angiokeratoma] synonym: "Fordyce angiokeratoma" EXACT [DOID:664] synonym: "Fordyce's spot" EXACT [DOID:664] -synonym: "Fordyce-type angiokeratoma of scrotum" NARROW [DOID:664] +synonym: "Fordyce-type angiokeratoma of scrotum" NARROW [] xref: DOID:664 {source="MONDO:equivalentTo"} xref: icd11.foundation:410953318 {source="MONDO:equivalentTo"} xref: MEDGEN:75529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -73068,7 +73070,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0003955 name: juvenile breast papillomatosis def: "A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present." [NCIT:C9503] -synonym: "breast juvenile papillomatosis" RELATED [DOID:6641] +synonym: "breast juvenile papillomatosis" RELATED [] synonym: "juvenile breast papillomatosis" EXACT [NCIT:C9503] synonym: "juvenile papillomatosis of breast" EXACT [NCIT:C9503] synonym: "juvenile papillomatosis of the breast" EXACT [DOID:6641, NCIT:C9503] @@ -73088,7 +73090,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0003956 name: Baastrup syndrome synonym: "Baastrup syndrome" EXACT [DOID:6643] -synonym: "Baastrup's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Baastrup's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:6643, MONDO:LexicalVariant] synonym: "kissing spine" EXACT [DOID:6643, ICD9CM:721.5] xref: DOID:6643 {source="MONDO:equivalentTo"} xref: ICD10CM:M48.2 {source="DOID:6643"} @@ -73109,8 +73111,8 @@ def: "A pineoblastoma occurring in adults." [NCIT:C8292] subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "adult pineoblastoma" EXACT [NCIT:C8292] -synonym: "pineoblastoma" BROAD [NCIT:C8292] +synonym: "adult pineoblastoma" EXACT [DOID:6648, NCIT:C8292] +synonym: "pineoblastoma" BROAD [] synonym: "pineoblastoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:6648 {source="MONDO:equivalentTo"} xref: MEDGEN:83794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -73128,7 +73130,7 @@ def: "An immature teratoma that arises from the central nervous system and occur subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "central nervous system immature teratoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "childhood central nervous system immature teratoma" EXACT [NCIT:C27405] +synonym: "childhood central nervous system immature teratoma" EXACT [DOID:6654, NCIT:C27405] synonym: "paediatric central nervous system immature teratoma" EXACT OMO:0003005 [] synonym: "pediatric central nervous system immature teratoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:6654 {source="MONDO:equivalentTo"} @@ -73145,7 +73147,7 @@ name: breast large cell neuroendocrine carcinoma def: "A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity." [NCIT:C40356] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "breast large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location, NCIT:C40356] +synonym: "breast large cell neuroendocrine carcinoma" EXACT [DOID:6657, MONDO:patterns/location, NCIT:C40356] synonym: "large cell neuroendocrine carcinoma of breast" EXACT [MONDO:design_pattern] xref: DOID:6657 {source="MONDO:equivalentTo"} xref: MEDGEN:307310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -73170,8 +73172,8 @@ synonym: "large cell lung neuroendocrine carcinoma" EXACT [NCIT:C5672] synonym: "large cell neuroendocrine carcinoma of lung" EXACT [NCIT:C5672] synonym: "large cell neuroendocrine carcinoma of the lung" EXACT [NCIT:C5672] synonym: "LCNEC of the lung" EXACT [NCIT:C5672] -synonym: "lung large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location] -synonym: "pulmonary large cell neuroendocrine carcinoma" EXACT [NCIT:C5672] +synonym: "lung large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location, NCIT:C5672] +synonym: "pulmonary large cell neuroendocrine carcinoma" EXACT [DOID:6658, NCIT:C5672] xref: DOID:6658 {source="MONDO:equivalentTo"} xref: MEDGEN:233608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5672 {source="MONDO:equivalentTo", source="DOID:6658"} @@ -73197,12 +73199,12 @@ def: "Froelich syndrome is characterized by obesity and hypogonadism due to a hy synonym: "Adiposodysgenesis" RELATED [GARD:0006463] synonym: "adiposogenital dystrophy" RELATED [GARD:0006463] synonym: "adiposogenital syndrome" EXACT [DOID:6676] -synonym: "Babinski-Froelich syndrome" EXACT [DOID:6676] +synonym: "Babinski-Froelich syndrome" EXACT [DOID:6676, NCIT:C34625] synonym: "dystrophia Adiposogenitalis" EXACT [NCIT:C34625] synonym: "Froehlich syndrome" EXACT [DOID:6676] -synonym: "Froehlich's syndrome" EXACT [DOID:6676] +synonym: "Froehlich's syndrome" EXACT [DOID:6676, NCIT:C34625] synonym: "Froelich's adiposity" RELATED [GARD:0006463] -synonym: "Froelich's syndrome" EXACT [DOID:6676] +synonym: "Froelich's syndrome" EXACT [DOID:6676, NCIT:C34625] synonym: "Frohlich syndrome" EXACT [NCIT:C34625] synonym: "Frohlich's syndrome" EXACT [NCIT:C34625] synonym: "Frolich's syndrome" EXACT [NCIT:C34625] @@ -73226,8 +73228,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6463/froelic id: MONDO:0003963 name: diffuse infiltrative lymphocytosis syndrome def: "This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs." [NCIT:P378] -synonym: "diffuse infiltra. lymph. sydrome" EXACT [NCIT:C35699] -synonym: "diffuse infiltra. lymph. syndrome" EXACT [NCIT:C35699] +synonym: "diffuse infiltra. lymph. sydrome" EXACT [] +synonym: "diffuse infiltra. lymph. syndrome" EXACT [] xref: DOID:6677 {source="MONDO:equivalentTo"} xref: MEDGEN:232428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35699 {source="DOID:6677", source="MONDO:equivalentTo"} @@ -73329,16 +73331,16 @@ intersection_of: realized_in_response_to_stimulus CHEBI:2679 ! amphetamine id: MONDO:0003970 name: gastric fundus carcinoma def: "A carcinoma that arises from epithelial cells of the fundus of stomach." [https://orcid.org/0000-0002-6601-2165] -synonym: "cancer of fundus of stomach" BROAD [DOID:6700, NCIT:C8398] -synonym: "cancer of gastric fundus" BROAD [NCIT:C8398] -synonym: "cancer of the fundus of the stomach" BROAD [NCIT:C8398] -synonym: "cancer of the gastric fundus" BROAD [NCIT:C8398] -synonym: "carcinoma of fundus of stomach" EXACT [MONDO:patterns/carcinoma] +synonym: "cancer of fundus of stomach" BROAD [] +synonym: "cancer of gastric fundus" BROAD [] +synonym: "cancer of the fundus of the stomach" BROAD [] +synonym: "cancer of the gastric fundus" BROAD [] +synonym: "carcinoma of fundus of stomach" EXACT [DOID:6700, MONDO:patterns/carcinoma, NCIT:C8398] synonym: "carcinoma of gastric fundus" EXACT [NCIT:C8398] synonym: "carcinoma of the fundus of the stomach" EXACT [NCIT:C8398] synonym: "carcinoma of the gastric fundus" EXACT [NCIT:C8398] synonym: "fundus of stomach carcinoma" EXACT [MONDO:patterns/location] -synonym: "gastric fundus (stomach) cancer" BROAD [NCIT:C8398] +synonym: "gastric fundus (stomach) cancer" BROAD [] synonym: "gastric fundus cancer" EXACT [NCIT:C8398] xref: DOID:6700 {source="MONDO:equivalentTo"} xref: MEDGEN:87514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -73363,7 +73365,7 @@ synonym: "carcinoma of the gastric pylorus" EXACT [NCIT:C6795] synonym: "carcinoma of the pylorus of the stomach" EXACT [NCIT:C6795] synonym: "gastric pylorus (stomach) cancer" EXACT [NCIT:C6795] synonym: "gastric pylorus cancer" EXACT [NCIT:C6795] -synonym: "gastric pylorus carcinoma" EXACT [NCIT:C6795] +synonym: "gastric pylorus carcinoma" EXACT [DOID:6703, NCIT:C6795] xref: DOID:6703 {source="MONDO:equivalentTo"} xref: MEDGEN:234301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6795 {source="DOID:6703", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -73379,13 +73381,13 @@ synonym: "cancer of body of stomach" EXACT [DOID:6705, NCIT:C8399] synonym: "cancer of gastric body" EXACT [NCIT:C8399] synonym: "cancer of the body of the stomach" EXACT [NCIT:C8399] synonym: "cancer of the gastric body" EXACT [NCIT:C8399] -synonym: "carcinoma of body of stomach" EXACT [MONDO:patterns/carcinoma, NCIT:C8399] +synonym: "carcinoma of body of stomach" EXACT [DOID:6705, MONDO:patterns/carcinoma, NCIT:C8399] synonym: "carcinoma of gastric body" EXACT [NCIT:C8399] synonym: "carcinoma of the body of the stomach" EXACT [NCIT:C8399] synonym: "carcinoma of the gastric body" EXACT [NCIT:C8399] synonym: "gastric body (stomach) cancer" EXACT [NCIT:C8399] synonym: "gastric body cancer" EXACT [NCIT:C8399] -synonym: "gastric body carcinoma" EXACT [NCIT:C8399] +synonym: "gastric body carcinoma" EXACT [DOID:6705, NCIT:C8399] xref: DOID:6705 {source="MONDO:equivalentTo"} xref: MEDGEN:87515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8399 {source="MONDO:equivalentTo", source="DOID:6705", source="MONDO:exact-label-match"} @@ -73418,9 +73420,9 @@ replaced_by: MONDO:0016757 id: MONDO:0003975 name: Littre gland carcinoma def: "A carcinoma involving a male urethral gland." [MONDO:patterns/carcinoma] -synonym: "carcinoma of LittrC) glands" EXACT [NCIT:C39865] -synonym: "carcinoma of Littre glands" EXACT [NCIT:C39865] -synonym: "carcinoma of Littré glands" EXACT [NCIT:C39865] +synonym: "carcinoma of LittrC) glands" EXACT [] +synonym: "carcinoma of Littre glands" EXACT [] +synonym: "carcinoma of Littré glands" EXACT [] synonym: "carcinoma of male urethral gland" EXACT [MONDO:patterns/carcinoma] synonym: "male urethral gland carcinoma" EXACT [MONDO:patterns/location] xref: DOID:6721 {source="MONDO:equivalentTo"} @@ -73441,7 +73443,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "malignant thymoma type AB" EXACT [] -synonym: "malignant type AB thymoma" EXACT [NCIT:C6886] +synonym: "malignant type AB thymoma" EXACT [DOID:6723, NCIT:C6886] synonym: "thymoma type AB, malignant" EXACT [MONDO:patterns/malignant] synonym: "thymoma, mixed type, malignant" EXACT [DOID:6723] xref: DOID:6723 {source="MONDO:equivalentTo"} @@ -73468,7 +73470,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "colon Oat cell carcinoma" EXACT [NCIT:C6761] -synonym: "colon small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6761] +synonym: "colon small cell carcinoma" EXACT [DOID:6727, MONDO:patterns/location, NCIT:C6761] synonym: "colon small cell neuroendocrine cancer" EXACT [NCIT:C6761] synonym: "colon small cell neuroendocrine carcinoma" EXACT [NCIT:C6761] synonym: "colonic Oat cell carcinoma" EXACT [NCIT:C6761] @@ -73493,8 +73495,8 @@ intersection_of: disease_has_location UBERON:0001155 ! colon id: MONDO:0003979 name: intrahepatic bile duct cystadenoma def: "A mucinous cystic neoplasm that arises from the intrahepatic bile ducts." [NCIT:P378] -synonym: "cystadenoma of the intrahepatic bile duct" EXACT [DOID:6733, NCIT:C7127] -synonym: "intrahepatic bile duct cystadenoma" EXACT [MONDO:patterns/location, NCIT:C96835] +synonym: "cystadenoma of the intrahepatic bile duct" EXACT [DOID:6733] +synonym: "intrahepatic bile duct cystadenoma" EXACT [DOID:6733, MONDO:patterns/location, NCIT:C96835] synonym: "intrahepatic bile duct mucinous cystic neoplasm" EXACT [NCIT:C96835] xref: DOID:6733 {source="MONDO:equivalentTo"} xref: MEDGEN:235226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -73512,7 +73514,7 @@ def: "A rare intracranial schwannoma that affects the jugular foramen." [NCIT:P3 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "jugular Foramen neurilemmoma" EXACT [NCIT:C5323] -synonym: "jugular foramen schwannoma" EXACT [MONDO:patterns/location] +synonym: "jugular foramen schwannoma" EXACT [MONDO:patterns/location, NCIT:C5323] synonym: "neurilemmoma of jugular Foramen" EXACT [DOID:6735, NCIT:C5323] synonym: "neurilemmoma of the jugular Foramen" EXACT [NCIT:C5323] synonym: "schwannoma of the jugular Foramen" EXACT [NCIT:C5323] @@ -73534,8 +73536,8 @@ replaced_by: MONDO:0006142 id: MONDO:0003982 name: bilateral breast carcinoma def: "Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner." [NCIT:P378] -synonym: "bilateral breast cancer" BROAD [DOID:6741, NCIT:C8287] -synonym: "bilateral breast carcinoma" EXACT [NCIT:C8287] +synonym: "bilateral breast cancer" BROAD [] +synonym: "bilateral breast carcinoma" EXACT [DOID:6741, NCIT:C8287] xref: DOID:6741 {source="MONDO:equivalentTo"} xref: MEDGEN:128977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8287 {source="DOID:6741", source="MONDO:equivalentTo"} @@ -73578,12 +73580,12 @@ name: chest wall lymphoma def: "A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas." [NCIT:C6712] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "chest wall cancer" BROAD [DOID:6758] -synonym: "chest wall lymphoma" EXACT [MONDO:patterns/location] -synonym: "lymphoma of chest wall" EXACT [DOID:6758] +synonym: "chest wall cancer" BROAD [] +synonym: "chest wall lymphoma" EXACT [DOID:6758, MONDO:patterns/location, NCIT:C6712] +synonym: "lymphoma of chest wall" EXACT [DOID:6758, NCIT:C6712] synonym: "lymphoma of the chest wall" EXACT [DOID:6758, NCIT:C6712] -synonym: "malignant neoplasm of chest wall" RELATED EXCLUDE [DOID:6758] -synonym: "malignant tumor of chest wall" RELATED EXCLUDE [DOID:6758] +synonym: "malignant neoplasm of chest wall" RELATED EXCLUDE [] +synonym: "malignant tumor of chest wall" RELATED EXCLUDE [] synonym: "malignant tumour of chest wall" RELATED OMO:0003005 [] synonym: "primary chest wall lymphoma" EXACT [NCIT:C6712] xref: DOID:6758 {source="MONDO:equivalentTo"} @@ -73614,8 +73616,8 @@ def: "A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to t subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lung lymphoma" EXACT [MONDO:patterns/location] -synonym: "lymphoma of lung" EXACT [DOID:6760] +synonym: "lung lymphoma" EXACT [DOID:6760, MONDO:patterns/location, NCIT:C4794] +synonym: "lymphoma of lung" EXACT [DOID:6760, NCIT:C4794] synonym: "lymphoma of the lung" EXACT [NCIT:C4794] synonym: "primary lung lymphoma" EXACT [NCIT:C4794] synonym: "pulmonary lymphoma" EXACT [DOID:6760, NCIT:C4794] @@ -73635,10 +73637,10 @@ def: "A rare lymphoma that arises from the bone or soft tissue of the sternum." subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "lymphoma of sternum" EXACT [DOID:6762, NCIT:C6716] -synonym: "lymphoma of the sternum" EXACT [DOID:6762] +synonym: "lymphoma of the sternum" EXACT [DOID:6762, NCIT:C6716] synonym: "primary sternal lymphoma" EXACT [NCIT:C6716] synonym: "sternal lymphoma" EXACT [NCIT:C6716] -synonym: "sternum lymphoma" EXACT [MONDO:patterns/location] +synonym: "sternum lymphoma" EXACT [DOID:6762, MONDO:patterns/location] xref: DOID:6762 {source="MONDO:equivalentTo"} xref: MEDGEN:277770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6716 {source="DOID:6762", source="MONDO:equivalentTo"} @@ -73669,8 +73671,8 @@ is_a: MONDO:0016096 {source="MONDO:Redundant", source="NCIT:C39990"} ! malignant id: MONDO:0003990 name: malignant breast myoepithelioma def: "An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported." [NCIT:P378] -synonym: "breast malignant myoepithelioma" EXACT [MONDO:patterns/location] -synonym: "breast myoepithelial carcinoma" EXACT [MONDO:patterns/location, NCIT:C40395] +synonym: "breast malignant myoepithelioma" EXACT [MONDO:patterns/location, NCIT:C40395] +synonym: "breast myoepithelial carcinoma" EXACT [DOID:6776, MONDO:patterns/location, NCIT:C40395] synonym: "malignant breast myoepithelioma" EXACT [NCIT:C40395] xref: DOID:6776 {source="MONDO:equivalentTo"} xref: MEDGEN:309375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -73687,7 +73689,7 @@ intersection_of: disease_has_location UBERON:0000310 ! breast id: MONDO:0003991 name: villoglandular endometrial endometrioid adenocarcinoma def: "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells." [NCIT:C27846] -synonym: "villoglandular endometrial endometrioid adenocarcinoma" EXACT [NCIT:C27846] +synonym: "villoglandular endometrial endometrioid adenocarcinoma" EXACT [DOID:6777, NCIT:C27846] xref: DOID:6777 {source="MONDO:equivalentTo"} xref: MEDGEN:277869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27846 {source="DOID:6777", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -73703,7 +73705,7 @@ def: "A morphologic variant of embryonal rhabdomyosarcoma occurring in children. subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "botryoid rhabdomyosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "botryoid-type embryonal rhabdomyosarcoma" BROAD [NCIT:C35574] +synonym: "botryoid-type embryonal rhabdomyosarcoma" BROAD [] synonym: "childhood botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C35574] synonym: "childhood sarcoma Botryoides" EXACT [DOID:6786, NCIT:C35574] synonym: "paediatric botryoid rhabdomyosarcoma" EXACT OMO:0003005 [] @@ -73747,7 +73749,7 @@ subset: rare synonym: "botryoid rhabdomyosarcoma of vagina" EXACT [MONDO:design_pattern] synonym: "botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [NCIT:C40268] synonym: "sarcoma Botryoides of the vagina" EXACT [NCIT:C40268] -synonym: "vagina botryoid rhabdomyosarcoma" EXACT [MONDO:patterns/location] +synonym: "vagina botryoid rhabdomyosarcoma" EXACT [DOID:6788, MONDO:patterns/location] xref: DOID:6788 {source="MONDO:equivalentTo"} xref: MEDGEN:267758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40268 {source="DOID:6788", source="MONDO:equivalentTo"} @@ -73768,7 +73770,7 @@ synonym: "childhood botryoid rhabdomyosarcoma of mammalian vulva" EXACT [MONDO:d synonym: "childhood botryoid-type embryonal rhabdomyosarcoma of the vulva" EXACT [NCIT:C36098] synonym: "childhood sarcoma Botryoides of the vulva" EXACT [DOID:6789, NCIT:C36098] synonym: "mammalian vulva childhood botryoid rhabdomyosarcoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "vulvar childhood botryoid-type embryonal rhabdomyosarcoma" EXACT [NCIT:C36098] +synonym: "vulvar childhood botryoid-type embryonal rhabdomyosarcoma" EXACT [DOID:6789, NCIT:C36098] xref: DOID:6789 {source="MONDO:equivalentTo"} xref: MEDGEN:232056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C36098 {source="DOID:6789", source="MONDO:equivalentTo"} @@ -73783,7 +73785,7 @@ id: MONDO:0003996 name: basal ganglia disorder def: "A disease involving the basal ganglia." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "basal ganglia disease" EXACT [MONDO:patterns/location] +synonym: "basal ganglia disease" EXACT [DOID:679, MONDO:patterns/location] synonym: "collection of basal ganglia disease" EXACT [MONDO:patterns/location] synonym: "collection of basal ganglia disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of basal ganglia" EXACT [MONDO:patterns/location_top] @@ -73809,7 +73811,7 @@ name: colon Kaposi sarcoma def: "A Kaposi sarcoma arising from the colon." [NCIT:C5516] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "colon Kaposi sarcoma" EXACT [NCIT:C5516] +synonym: "colon Kaposi sarcoma" EXACT [DOID:6804, NCIT:C5516] synonym: "colon Kaposi's sarcoma" EXACT [NCIT:C5516] synonym: "colon Kaposi's sarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "colon Kaposis sarcoma" EXACT [NCIT:C5516] @@ -73832,7 +73834,7 @@ intersection_of: disease_has_location UBERON:0001155 ! colon id: MONDO:0003998 name: obsolete vaginal tubular adenoma def: "OBSOLETE. An adenoma that arises from the vagina and is characterized by a tubular architectural pattern." [NCIT:C40257] -synonym: "vaginal tubular adenoma" EXACT [NCIT:C40257] +synonym: "vaginal tubular adenoma" EXACT [] xref: DOID:6809 {source="MONDO:obsoleteEquivalentObsolete"} xref: NCIT:C40257 {source="MONDO:exact-label-match", source="DOID:6809", source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} @@ -73846,7 +73848,7 @@ def: "A pilocytic astrocytoma that occurs during adolescence." [NCIT:C27081] subset: gard_rare {source="MONDO:GARD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:673580"} subset: rare -synonym: "juvenile pilocytic astrocytoma" EXACT [NCIT:C27081] +synonym: "juvenile pilocytic astrocytoma" EXACT [DOID:6811, NCIT:C27081, Orphanet:673580] xref: DOID:6811 {source="MONDO:equivalentTo"} xref: MEDGEN:128890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D001254 {source="DOID:6811"} @@ -73861,10 +73863,10 @@ name: childhood pilocytic astrocytoma def: "A pilocytic astrocytoma that occurs during childhood." [NCIT:C4048] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood pilocytic astrocytoma" EXACT [NCIT:C4048] +synonym: "childhood pilocytic astrocytoma" EXACT [DOID:6812, NCIT:C4048] synonym: "paediatric pilocytic astrocytoma" EXACT OMO:0003005 [] synonym: "pediatric pilocytic astrocytoma" EXACT [DOID:6812, MONDO:patterns/childhood, NCIT:C4048] -synonym: "pilocytic astrocytoma" BROAD [NCIT:C4048] +synonym: "pilocytic astrocytoma" BROAD [] synonym: "pilocytic astrocytoma of childhood" EXACT [MONDO:patterns/childhood, NCIT:C4048] xref: DOID:6812 {source="MONDO:equivalentTo"} xref: MEDGEN:232355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -73883,9 +73885,9 @@ subset: gard_rare {source="GARD:6141", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "compartment syndrome" EXACT [DOID:682] +synonym: "compartment syndrome" EXACT [DOID:682, NCIT:C118422] synonym: "compartmental syndrome" EXACT [DOID:682] -synonym: "compartmental syndrome, NOS" RELATED EXCLUDE [DOID:682] +synonym: "compartmental syndrome, NOS" RELATED EXCLUDE [] xref: DOID:682 {source="MONDO:equivalentTo"} xref: GARD:6141 {source="MONDO:GARD"} xref: ICD10CM:T79.A0 {source="DOID:682"} @@ -73937,7 +73939,7 @@ id: MONDO:0004005 name: rete ovarii adenoma def: "An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign." [NCIT:P378] synonym: "adenoma, rete ovarii, benign" EXACT [NCIT:C40018] -synonym: "rete ovarii adenoma" EXACT [MONDO:patterns/location] +synonym: "rete ovarii adenoma" EXACT [DOID:6837, MONDO:patterns/location, NCIT:C40018] xref: DOID:6837 {source="MONDO:equivalentTo"} xref: MEDGEN:271495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40018 {source="MONDO:equivalentTo", source="DOID:6837"} @@ -73956,7 +73958,7 @@ id: MONDO:0004006 name: rete ovarii cystadenofibroma def: "An exceptionally rare cystadenofibroma that arises from the rete ovarii." [NCIT:P378] synonym: "cystadenofibroma of rete ovarii" EXACT [MONDO:design_pattern] -synonym: "rete ovarii cystadenofibroma" EXACT [MONDO:patterns/location] +synonym: "rete ovarii cystadenofibroma" EXACT [DOID:6838, MONDO:patterns/location, NCIT:C40020] xref: DOID:6838 {source="MONDO:equivalentTo"} xref: MEDGEN:308159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40020 {source="MONDO:equivalentTo", source="DOID:6838"} @@ -74007,7 +74009,7 @@ def: "An infiltrating transitional cell carcinoma that arises from the renal pel subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant" EXACT [NCIT:C6186] -synonym: "kidney pelvis sarcomatoid transitional cell carcinoma" EXACT [NCIT:C6186] +synonym: "kidney pelvis sarcomatoid transitional cell carcinoma" EXACT [DOID:6844, NCIT:C6186] synonym: "renal pelvis sarcomatoid transitional cell carcinoma" EXACT [MONDO:patterns/location] synonym: "sarcomatoid transitional cell carcinoma of kidney pelvis" EXACT [NCIT:C6186] synonym: "sarcomatoid transitional cell carcinoma of renal pelvis" EXACT [DOID:6844, NCIT:C6186] @@ -74028,7 +74030,7 @@ id: MONDO:0004010 name: infiltrating renal pelvis/ureter urothelial carcinoma synonym: "infiltrating renal pelvis and ureter transitional cell carcinoma" EXACT [NCIT:C39879] synonym: "infiltrating renal pelvis and ureter urothelial carcinoma" EXACT [NCIT:C39879] -synonym: "infiltrating ureter transitional cell carcinoma" NARROW [DOID:6845] +synonym: "infiltrating ureter transitional cell carcinoma" NARROW [] xref: MEDGEN:268273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39879 {source="MONDO:equivalentTo", source="DOID:6845"} xref: UMLS:C1512750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:268273"} @@ -74068,7 +74070,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult botryoid-type embryonal rhabdomyosarcoma of the vagina" EXACT [NCIT:C40267] synonym: "adult sarcoma Botryoides of the vagina" EXACT [NCIT:C40267] -synonym: "adult vagina botryoid rhabdomyosarcoma" RELATED [DOID:6848] +synonym: "adult vagina botryoid rhabdomyosarcoma" RELATED [] synonym: "botryoid-type embryonal rhabdomyosarcoma of the vagina of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:6848 {source="MONDO:equivalentTo"} xref: MEDGEN:272994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -74168,7 +74170,7 @@ replaced_by: MONDO:0007256 id: MONDO:0004019 name: oxyphilic endometrial endometrioid adenocarcinoma def: "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells." [NCIT:C27849] -synonym: "oxyphilic endometrial endometrioid adenocarcinoma" EXACT [NCIT:C27849] +synonym: "oxyphilic endometrial endometrioid adenocarcinoma" EXACT [DOID:6865, NCIT:C27849] xref: DOID:6865 {source="MONDO:equivalentTo"} xref: MEDGEN:309527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27849 {source="DOID:6865", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -74184,8 +74186,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma" EXACT [NCIT:C37870] synonym: "mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma" EXACT [NCIT:C37870] -synonym: "mediastinal Gray zone lymphoma" EXACT [NCIT:C37870] -synonym: "mediastinal Grey zone lymphoma" EXACT OMO:0003005 [] +synonym: "mediastinal Gray zone lymphoma" EXACT [DOID:6867, NCIT:C37870] +synonym: "mediastinal Grey zone lymphoma" EXACT OMO:0003005 [NCIT:C37870] xref: DOID:6867 {source="MONDO:equivalentTo"} xref: MEDGEN:233679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C37870 {source="MONDO:equivalentTo", source="DOID:6867"} @@ -74203,7 +74205,7 @@ subset: rare synonym: "lymphoma of mediastinum" EXACT [DOID:6868, NCIT:C6633] synonym: "lymphoma of the mediastinum" EXACT [NCIT:C6633] synonym: "mediastinal lymphoma" EXACT [NCIT:C6633] -synonym: "mediastinal malignant lymphoma" EXACT [NCIT:C6633] +synonym: "mediastinal malignant lymphoma" EXACT [DOID:6868, NCIT:C6633] synonym: "mediastinum lymphoma" EXACT [MONDO:patterns/location] synonym: "primary mediastinal lymphoma" EXACT [NCIT:C6633] xref: DOID:6868 {source="MONDO:equivalentTo"} @@ -74243,7 +74245,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "neuroblastoma of spinal cord" EXACT [NCIT:C5155] synonym: "neuroblastoma of the spinal cord" EXACT [DOID:6871, NCIT:C5155] -synonym: "spinal cord neuroblastoma" EXACT [MONDO:patterns/location, NCIT:C5155] +synonym: "spinal cord neuroblastoma" EXACT [DOID:6871, MONDO:patterns/location, NCIT:C5155] xref: DOID:6871 {source="MONDO:equivalentTo"} xref: MEDGEN:234803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5155 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:6871"} @@ -74266,12 +74268,12 @@ name: skin tag def: "A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction." [NCIT:P378] synonym: "acrochordon" EXACT [NCIT:C3374] synonym: "cutaneous fibroepithelial polyp" EXACT [NCIT:C3374] -synonym: "cutaneous tag" EXACT [DOID:6873] -synonym: "fibroepithelial polyp" RELATED [DOID:6873, NCIT:C3337] +synonym: "cutaneous tag" EXACT [DOID:6873, NCIT:C3374] +synonym: "fibroepithelial polyp" RELATED [] synonym: "fibroepithelial polyp of skin" EXACT [DOID:6873, NCIT:C3374] synonym: "fibroepithelial polyp of the skin" EXACT [NCIT:C3374] -synonym: "fibroma molle" EXACT [NCIT:C3374] -synonym: "soft fibroma" EXACT [DOID:6873] +synonym: "fibroma molle" EXACT [] +synonym: "soft fibroma" EXACT [DOID:6873, NCIT:C3374] xref: DOID:6873 {source="MONDO:equivalentTo"} xref: MEDGEN:11452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3337 {source="DOID:6873"} @@ -74304,7 +74306,7 @@ synonym: "fibrosarcoma of small intestine" EXACT [NCIT:C5336] synonym: "fibrosarcoma of the small bowel" EXACT [NCIT:C5336] synonym: "fibrosarcoma of the small intestine" EXACT [NCIT:C5336] synonym: "fibrosarcoma, small intestine" EXACT [DOID:6880, NCIT:C5336] -synonym: "small bowel fibrosarcoma" EXACT [NCIT:C5336] +synonym: "small bowel fibrosarcoma" EXACT [DOID:6880, NCIT:C5336] synonym: "small intestinal fibrosarcoma" EXACT [NCIT:C5336] synonym: "small intestine fibrosarcoma" EXACT [NCIT:C5336] synonym: "small intestine fibrosarcoma (disease)" EXACT [MONDO:patterns/location] @@ -74330,8 +74332,8 @@ def: "A carcinoma that arises from the transitional epithelium of the ureter. It subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "transitional cell carcinoma of the ureter" EXACT [NCIT:C4830] -synonym: "transitional cell carcinoma of ureter" EXACT [NCIT:C4830] -synonym: "ureter transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4830] +synonym: "transitional cell carcinoma of ureter" EXACT [DOID:6888, NCIT:C4830] +synonym: "ureter transitional cell carcinoma" EXACT [DOID:6888, MONDO:patterns/location, NCIT:C4830] synonym: "ureter urothelial cancer" EXACT [NCIT:C4830] synonym: "ureter urothelial carcinoma" EXACT [NCIT:C4830] synonym: "ureteral transitional cell carcinoma" EXACT [NCIT:C4830] @@ -74365,13 +74367,13 @@ def: "A malignant mixed epithelial neoplasm that arises from the ovary and is co subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "malignant ovarian mixed epithelial neoplasm" EXACT [http://purl.bioontology.org/ontology/PDQ/CDR0000039597] -synonym: "malignant ovarian mixed epithelial tumor" EXACT [NCIT:C40090] +synonym: "malignant ovarian mixed epithelial tumor" EXACT [] synonym: "malignant ovarian mixed epithelial tumour" EXACT OMO:0003005 [] synonym: "mixed epithelial carcinoma of ovary" EXACT [DOID:6898] -synonym: "mixed epithelial carcinoma of the ovary" EXACT [NCIT:C40090] +synonym: "mixed epithelial carcinoma of the ovary" EXACT [] synonym: "mixed ovarian carcinoma" RELATED [ONCOTREE:MXOV] -synonym: "ovarian mixed epithelial carcinoma" EXACT [NCIT:C40090] -synonym: "ovarian Seromucinous carcinoma" EXACT [NCIT:C40090] +synonym: "ovarian mixed epithelial carcinoma" EXACT [] +synonym: "ovarian Seromucinous carcinoma" EXACT [DOID:6898, NCIT:C40090] synonym: "ovary mixed epithelial carcinoma" EXACT [DOID:6898, MONDO:0004031] xref: DOID:6898 {source="MONDO:equivalentTo"} xref: DOID:6899 {source="MONDO:equivalentObsolete"} @@ -74401,7 +74403,7 @@ def: "A lymphoma that involves the eye." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "eye lymphoma" EXACT [MONDO:patterns/location, NCIT:C35690] +synonym: "eye lymphoma" EXACT [DOID:6903, MONDO:patterns/location, NCIT:C35690] synonym: "eyeball of camera-type eye lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lymphoma of eyeball of camera-type eye" EXACT [MONDO:design_pattern] synonym: "primary eye lymphoma" EXACT [NCIT:C35690] @@ -74479,7 +74481,7 @@ id: MONDO:0004040 name: urinary bladder inverted papilloma def: "A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria." [NCIT:C39859] synonym: "bladder inverted papilloma" EXACT [NCIT:C39859] -synonym: "urinary bladder inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C39859] +synonym: "urinary bladder inverted papilloma" EXACT [DOID:6932, MONDO:patterns/location, NCIT:C39859] xref: DOID:6932 {source="MONDO:equivalentTo"} xref: MEDGEN:267740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39859 {source="DOID:6932", source="MONDO:equivalentTo"} @@ -74498,11 +74500,11 @@ name: urothelial papilloma def: "A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium." [NCIT:C3842] subset: otar {source="MONDO:OTAR"} synonym: "bladder papilloma" EXACT [DOID:6933] -synonym: "bladder transitional cell papilloma" RELATED [DOID:6933] +synonym: "bladder transitional cell papilloma" RELATED [] synonym: "transitional cell papilloma of bladder" EXACT [DOID:6933] synonym: "uPA" RELATED [ONCOTREE:UPA] -synonym: "urinary bladder urothelial papilloma" RELATED EXCLUDE [DOID:6933] -synonym: "urothelial papilloma" EXACT [NCIT:C3842] +synonym: "urinary bladder urothelial papilloma" RELATED EXCLUDE [] +synonym: "urothelial papilloma" EXACT [DOID:6933, NCIT:C3842] xref: DOID:6933 {source="MONDO:equivalentTo"} xref: ICDO:8120/1 {source="NCIT:C3842"} xref: MEDGEN:115999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -74527,7 +74529,7 @@ name: urethra inverted papilloma def: "A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue." [NCIT:C6173] synonym: "inverted papilloma of the urethra" EXACT [DOID:6934, NCIT:C6173] synonym: "inverted papilloma of urethra" EXACT [NCIT:C6173] -synonym: "urethra inverted papilloma" EXACT [NCIT:C6173] +synonym: "urethra inverted papilloma" EXACT [DOID:6934, NCIT:C6173] synonym: "urethral inverted papilloma" EXACT [NCIT:C6173] xref: DOID:6934 {source="MONDO:equivalentTo"} xref: MEDGEN:237034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -74546,7 +74548,7 @@ name: ureter inverted papilloma def: "A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria." [NCIT:C6174] synonym: "inverted papilloma of the ureter" EXACT [NCIT:C6174] synonym: "inverted papilloma of ureter" EXACT [NCIT:C6174] -synonym: "ureter inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C6174] +synonym: "ureter inverted papilloma" EXACT [DOID:6935, MONDO:patterns/location, NCIT:C6174] synonym: "ureteral inverted papilloma" EXACT [DOID:6935, NCIT:C6174] xref: DOID:6935 {source="MONDO:equivalentTo"} xref: MEDGEN:277845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -74561,7 +74563,7 @@ intersection_of: disease_has_location UBERON:0000056 ! ureter id: MONDO:0004044 name: ureter urothelial papilloma def: "A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter." [NCIT:C6160] -synonym: "ureter urothelial papilloma" EXACT [MONDO:patterns/location, NCIT:C6160] +synonym: "ureter urothelial papilloma" EXACT [DOID:6936, MONDO:patterns/location, NCIT:C6160] xref: DOID:6936 {source="MONDO:equivalentTo"} xref: MEDGEN:275548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6160 {source="MONDO:equivalentTo", source="DOID:6936", source="MONDO:exact-label-match"} @@ -74578,9 +74580,9 @@ def: "Retinoblastoma during childhood that has not spread beyond the eye." [NCIT subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood intraocular retinoblastoma" EXACT [DOID:6938, NCIT:C9047] -synonym: "intraocular retinoblastoma" BROAD [NCIT:C9047] +synonym: "intraocular retinoblastoma" BROAD [] synonym: "intraocular retinoblastoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "pediatric intraocular retinoblastoma" EXACT [MONDO:patterns/childhood, NCIT:C9047] +synonym: "pediatric intraocular retinoblastoma" EXACT [DOID:6938, MONDO:patterns/childhood, NCIT:C9047] xref: DOID:6938 {source="MONDO:equivalentTo"} xref: MEDGEN:230836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9047 {source="MONDO:equivalentTo", source="DOID:6938"} @@ -74599,14 +74601,14 @@ subset: rare synonym: "Brain meningioma" EXACT [NCIT:C6253] synonym: "brain paediatric meningioma" EXACT OMO:0003005 [] synonym: "brain pediatric meningioma" EXACT [MONDO:patterns/location] -synonym: "childhood meningioma of brain" EXACT [NCIT:C6253] -synonym: "childhood meningioma of the brain" EXACT [NCIT:C6253] +synonym: "childhood meningioma of brain" EXACT [] +synonym: "childhood meningioma of the brain" EXACT [] synonym: "paediatric brain meningioma" EXACT OMO:0003005 [] synonym: "paediatric meningioma of brain" EXACT OMO:0003005 [] synonym: "paediatric meningioma of the brain" EXACT OMO:0003005 [] -synonym: "pediatric brain meningioma" EXACT [NCIT:C6253] -synonym: "pediatric meningioma of brain" EXACT [DOID:6939, NCIT:C6253] -synonym: "pediatric meningioma of the brain" EXACT [NCIT:C6253] +synonym: "pediatric brain meningioma" EXACT [] +synonym: "pediatric meningioma of brain" EXACT [DOID:6939] +synonym: "pediatric meningioma of the brain" EXACT [] xref: DOID:6939 {source="MONDO:equivalentTo"} xref: MEDGEN:234122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6253 {source="MONDO:equivalentTo", source="DOID:6939"} @@ -74624,7 +74626,7 @@ def: "A benign or malignant neoplasm that affects the sphenoid sinus. Representa subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "neoplasm of sphenoid sinus" EXACT [NCIT:C6792] -synonym: "neoplasm of sphenoidal sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C6792] +synonym: "neoplasm of sphenoidal sinus" EXACT [DOID:6947, MONDO:patterns/neoplasm, NCIT:C6792] synonym: "neoplasm of the sphenoid sinus" EXACT [NCIT:C6792] synonym: "neoplasm of the sphenoidal sinus" EXACT [NCIT:C6792] synonym: "sphenoid sinus neoplasm" EXACT [NCIT:C6792] @@ -74658,9 +74660,9 @@ def: "A malignant teratoma that arises from the stomach." [NCIT:C5256] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "immature gastric teratoma" EXACT [NCIT:C5256] -synonym: "malignant gastric teratoma" EXACT [NCIT:C5256] -synonym: "malignant teratoma of stomach" EXACT [DOID:6948, NCIT:C5256] -synonym: "malignant teratoma of the stomach" EXACT [NCIT:C5256] +synonym: "malignant gastric teratoma" EXACT [DOID:6948] +synonym: "malignant teratoma of stomach" EXACT [DOID:6948] +synonym: "malignant teratoma of the stomach" EXACT [] synonym: "stomach malignant teratoma" EXACT [MONDO:patterns/location] xref: DOID:6948 {source="MONDO:equivalentTo"} xref: MEDGEN:272752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -74676,9 +74678,9 @@ intersection_of: disease_has_location UBERON:0000945 ! stomach id: MONDO:0004049 name: combat disorder def: "Neurotic reactions to unusual, severe, or overwhelming military stress." [MESH:D003130] -synonym: "combat disorder" EXACT [MESH:D003130] +synonym: "combat disorder" EXACT [DOID:6950, MESH:D003130] synonym: "combat neuroses" RELATED [MESH:D003130] -synonym: "combat neurosis" EXACT [DOID:6950, MESH:D003130, NCIT:C34498] +synonym: "combat neurosis" EXACT [DOID:6950, MESH:D003130] synonym: "combat stress disorder" RELATED [MESH:D003130] synonym: "combat stress disorders" RELATED [MESH:D003130] synonym: "disorder, combat" RELATED [MESH:D003130] @@ -74714,8 +74716,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "malignant bone aneurysm" EXACT [NCIT:C3902] -synonym: "telangiectatic osteosarcoma" EXACT [NCIT:C3902] -synonym: "telangiectatic osteosarcoma (morphologic abnormality)" EXACT [DOID:6951] +synonym: "telangiectatic osteosarcoma" EXACT [DOID:6951, NCIT:C3902] +synonym: "telangiectatic osteosarcoma (morphologic abnormality)" EXACT [] synonym: "TEOS" RELATED ABBREVIATION [ONCOTREE:TEOS] xref: DOID:6951 {source="MONDO:equivalentTo"} xref: ICDO:9183/3 {source="NCIT:C3902"} @@ -74733,7 +74735,7 @@ id: MONDO:0004051 name: aleukemic monocytic leukemia cutis subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "aleukemic monocytic leukemia cutis" EXACT [NCIT:C5630] +synonym: "aleukemic monocytic leukemia cutis" EXACT [DOID:6958, NCIT:C5630] xref: DOID:6958 {source="MONDO:equivalentTo"} xref: MEDGEN:231050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5630 {source="MONDO:equivalentTo", source="DOID:6958", source="MONDO:exact-label-match"} @@ -74749,7 +74751,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cloacogenic carcinoma of rectum" EXACT [NCIT:C5555] synonym: "cloacogenic carcinoma of the rectum" EXACT [NCIT:C5555] -synonym: "rectal cloacogenic carcinoma" EXACT [NCIT:C5555] +synonym: "rectal cloacogenic carcinoma" EXACT [DOID:6959, NCIT:C5555] synonym: "rectal transition zone carcinoma" EXACT [NCIT:C5555] synonym: "rectal transitional zone carcinoma" EXACT [NCIT:C5555] synonym: "transition zone carcinoma of rectum" EXACT [NCIT:C5555] @@ -74768,7 +74770,7 @@ name: bartholin gland squamous cell carcinoma def: "A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells." [NCIT:C40293] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "bartholin gland squamous cell carcinoma" EXACT [NCIT:C40293] +synonym: "bartholin gland squamous cell carcinoma" EXACT [DOID:6961, NCIT:C40293] synonym: "Bartholin's gland squamous cell carcinoma" EXACT [DOID:6961, MONDO:0006101, NCIT:C40293] synonym: "major vestibular gland squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:6961 {source="MONDO:equivalentTo"} @@ -74815,9 +74817,9 @@ def: "An invasive or non-invasive papillary transitional cell carcinoma of the u subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "bladder papillary urothelial carcinoma" EXACT [NCIT:C7383] -synonym: "bladder urothelial papillary carcinoma" RELATED [DOID:6975] +synonym: "bladder urothelial papillary carcinoma" RELATED [] synonym: "urinary bladder papillary transitional cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "urothelial papillary carcinoma of the bladder" EXACT [DOID:6975, NCIT:C7383] +synonym: "urothelial papillary carcinoma of the bladder" EXACT [NCIT:C7383] xref: DOID:6975 {source="MONDO:equivalentTo"} xref: MEDGEN:309552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7383 {source="DOID:6975", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -74849,7 +74851,7 @@ synonym: "excessive vasoactive intestinal peptide secretion" EXACT [DOID:6977] synonym: "islet cell WDHA syndrome" EXACT [NCIT:C3488] synonym: "pancreatic WDHA syndrome" EXACT [DOID:6977, NCIT:C3488] synonym: "Verner Morrison syndrome" EXACT [NCIT:C3488] -synonym: "Verner-Morrison syndrome" RELATED EXCLUDE [DOID:6977] +synonym: "Verner-Morrison syndrome" RELATED EXCLUDE [] synonym: "watery diarrhea syndrome" EXACT [NCIT:C3488] synonym: "watery diarrhea with hypokalemic alkalosis" EXACT [NCIT:C3488] synonym: "watery diarrhea, hypokalemia, and achlorhydria syndrome" EXACT [NCIT:C3488] @@ -74910,8 +74912,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Intermediate cell type intraocular melanoma" EXACT [NCIT:C7989] synonym: "Intermediate cell type uveal melanoma" EXACT [NCIT:C7989] -synonym: "intraocular mixed cell type melanoma" RELATED [DOID:6992] -synonym: "mixed cell type uveal melanoma" EXACT [DOID:6992, NCIT:C7989] +synonym: "intraocular mixed cell type melanoma" RELATED [] +synonym: "mixed cell type uveal melanoma" EXACT [DOID:6992] xref: DOID:6992 {source="MONDO:equivalentTo"} xref: MEDGEN:76016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7989 {source="MONDO:equivalentTo", source="DOID:6992"} @@ -74929,7 +74931,7 @@ subset: rare synonym: "Intermediate cell type iris melanoma" EXACT [NCIT:C6101] synonym: "intermediate cell type uveal melanoma of iris" EXACT [MONDO:design_pattern] synonym: "iris intermediate cell type uveal melanoma" EXACT [MONDO:patterns/location] -synonym: "iris mixed cell melanoma" RELATED [DOID:6993] +synonym: "iris mixed cell melanoma" RELATED [] xref: DOID:6993 {source="MONDO:equivalentTo"} xref: MEDGEN:233564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6101 {source="DOID:6993", source="MONDO:equivalentTo"} @@ -74950,8 +74952,8 @@ subset: rare synonym: "iris malignant melanoma" EXACT [NCIT:C9088] synonym: "iris melanoma" EXACT [NCIT:C9088] synonym: "iris melanoma (disease)" EXACT [MONDO:patterns/location] -synonym: "malignant iris melanoma" RELATED [DOID:6994] -synonym: "malignant melanoma of iris" EXACT [NCIT:C9088] +synonym: "malignant iris melanoma" RELATED [] +synonym: "malignant melanoma of iris" EXACT [DOID:6994, NCIT:C9088] synonym: "malignant melanoma of the iris" EXACT [NCIT:C9088] synonym: "melanoma (disease) of iris" EXACT [] synonym: "melanoma of iris" EXACT [NCIT:C9088] @@ -74972,9 +74974,9 @@ name: intermediate cell type choroid melanoma def: "Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells." [NCIT:C6100] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Intermediate cell type choroid melanoma" EXACT [NCIT:C6100] +synonym: "Intermediate cell type choroid melanoma" EXACT [DOID:6996, NCIT:C6100] synonym: "intermediate cell type uveal melanoma of optic choroid" EXACT [MONDO:design_pattern] -synonym: "mixed cell melanoma of choroid" EXACT [DOID:6996, NCIT:C6100] +synonym: "mixed cell melanoma of choroid" EXACT [DOID:6996] synonym: "optic choroid intermediate cell type uveal melanoma" EXACT [MONDO:patterns/location] xref: DOID:6996 {source="MONDO:equivalentTo"} xref: MEDGEN:272760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -74992,7 +74994,7 @@ def: "Ciliary body melanoma characterized by the presence of intermediate cells subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ciliary body intermediate cell type uveal melanoma" EXACT [MONDO:patterns/location] -synonym: "Intermediate cell type ciliary body melanoma" EXACT [NCIT:C6118] +synonym: "Intermediate cell type ciliary body melanoma" EXACT [DOID:6997, NCIT:C6118] synonym: "intermediate cell type uveal melanoma of ciliary body" EXACT [MONDO:design_pattern] xref: DOID:6997 {source="MONDO:equivalentTo"} xref: MEDGEN:233563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -75018,7 +75020,7 @@ synonym: "gall bladder mucinous adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "gallbladder colloid carcinoma" EXACT [NCIT:C5744] synonym: "gallbladder colloidal carcinoma" EXACT [NCIT:C5744] synonym: "gallbladder mucinous adenocarcinoma" EXACT [NCIT:C5744] -synonym: "gallbladder mucinous carcinoma" RELATED [DOID:6998] +synonym: "gallbladder mucinous carcinoma" RELATED [] synonym: "mucinous carcinoma of gallbladder" EXACT [NCIT:C5744] synonym: "mucinous carcinoma of the gallbladder" EXACT [NCIT:C5744] xref: DOID:6998 {source="MONDO:equivalentTo"} @@ -75047,7 +75049,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mitochondrial disease" BROAD [MONDO:0019055] synonym: "mitochondrial genetic disorders" RELATED [GARD:0007048] -synonym: "mitochondrial metabolism disease" RELATED [DOID:700] +synonym: "mitochondrial metabolism disease" RELATED [] xref: DOID:700 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: GARD:18887 {source="MONDO:GARD"} xref: MEDGEN:1778113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -75076,7 +75078,7 @@ def: "An astrocytoma, without designation of benign or malignant, that is found subset: gard_rare {source="GARD:9302", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cerebral astrocytoma" BROAD [NCIT:C4347] +synonym: "cerebral astrocytoma" BROAD [] synonym: "cerebral astrocytoma, childhood" RELATED [GARD:0009302] synonym: "childhood astrocytic tumor of telencephalon" EXACT [MONDO:design_pattern] synonym: "childhood astrocytic tumour of telencephalon" EXACT OMO:0003005 [] @@ -75122,7 +75124,7 @@ replaced_by: MONDO:0015613 id: MONDO:0004074 name: ovarian mucinous cystadenofibroma def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma." [NCIT:C40041] -synonym: "ovarian mucinous cystadenofibroma" EXACT [NCIT:C40041] +synonym: "ovarian mucinous cystadenofibroma" EXACT [DOID:7013, NCIT:C40041] xref: DOID:7013 {source="MONDO:equivalentTo"} xref: MEDGEN:276670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40041 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7013"} @@ -75134,8 +75136,8 @@ is_a: MONDO:0003887 {source="DOID:7013", source="NCIT:C40041"} ! ovarian mucinou id: MONDO:0004075 name: infiltrating lipoma def: "A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas." [NCIT:P378] -synonym: "intramuscular lipoma" EXACT [DOID:7014, NCIT:C7450] -synonym: "intramuscular lipoma (morphologic abnormality)" EXACT [DOID:7014] +synonym: "intramuscular lipoma" EXACT [DOID:7014] +synonym: "intramuscular lipoma (morphologic abnormality)" EXACT [] xref: DOID:7014 {source="MONDO:equivalentTo"} xref: MEDGEN:90788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7450 {source="DOID:7014"} @@ -75152,7 +75154,7 @@ name: tendon sheath lipoma def: "A benign tumor, composed of mature adipocytes, that arises within the tendon sheath." [NCIT:C6499] synonym: "lipoma of tendon sheath" EXACT [NCIT:C6499] synonym: "lipoma of the tendon sheath" EXACT [DOID:7016, NCIT:C6499] -synonym: "tendon sheath lipoma" EXACT [MONDO:patterns/location] +synonym: "tendon sheath lipoma" EXACT [DOID:7016, MONDO:patterns/location, NCIT:C6499] xref: DOID:7016 {source="MONDO:equivalentTo"} xref: MEDGEN:277806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6499 {source="DOID:7016", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -75184,7 +75186,7 @@ def: "An intrahepatic cholangiocarcinoma that produces abundant mucin." [NCIT:P3 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "mucin-producing intrahepatic cholangiocarcinoma" EXACT [NCIT:C41618] -synonym: "mucinous intrahepatic cholangiocarcinoma" EXACT [NCIT:C41618] +synonym: "mucinous intrahepatic cholangiocarcinoma" EXACT [DOID:7024, NCIT:C41618] xref: DOID:7024 {source="MONDO:equivalentTo"} xref: MEDGEN:270842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C41618 {source="MONDO:equivalentTo", source="DOID:7024"} @@ -75199,9 +75201,9 @@ def: "A benign adenomatous neoplasm that arises from the mucous glands in the br synonym: "adenoma of bronchial mucous gland" EXACT [NCIT:C5664] synonym: "adenoma of bronchial mucus gland" RELATED [DOID:7030] synonym: "adenoma of the bronchial mucous gland" EXACT [NCIT:C5664] -synonym: "adenoma of the bronchial mucus gland" EXACT [DOID:7030, NCIT:C5664] +synonym: "adenoma of the bronchial mucus gland" EXACT [DOID:7030] synonym: "bronchial cystadenoma" EXACT [NCIT:C5664] -synonym: "bronchial mucus gland adenoma" RELATED [DOID:7030] +synonym: "bronchial mucus gland adenoma" RELATED [] synonym: "lung mucous gland adenoma" EXACT [NCIT:C5664] synonym: "lung polyadenoma" EXACT [NCIT:C5664] xref: DOID:7030 {source="MONDO:equivalentTo"} @@ -75224,8 +75226,8 @@ synonym: "epidermoid carcinoma of the glottis" EXACT [DOID:7031, NCIT:C8186] synonym: "glottic epidermoid carcinoma" EXACT [NCIT:C8186] synonym: "glottic squamous cell carcinoma" EXACT [NCIT:C8186] synonym: "glottis epidermoid carcinoma" EXACT [NCIT:C8186] -synonym: "glottis squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C8186] -synonym: "squamous cell carcinoma of glottis" EXACT [DOID:7031, NCIT:C8186] +synonym: "glottis squamous cell carcinoma" EXACT [DOID:7031, MONDO:patterns/location, NCIT:C8186] +synonym: "squamous cell carcinoma of glottis" EXACT [NCIT:C8186] synonym: "squamous cell carcinoma of the glottis" EXACT [NCIT:C8186] xref: DOID:7031 {source="MONDO:equivalentTo"} xref: MEDGEN:76096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -75243,8 +75245,8 @@ name: extrahepatic bile duct clear cell adenocarcinoma def: "A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells." [NCIT:C5775] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "bile duct clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5775] -synonym: "bile duct clear cell carcinoma" EXACT [DOID:7032, NCIT:C5775] +synonym: "bile duct clear cell adenocarcinoma" EXACT [DOID:7032, MONDO:patterns/location, NCIT:C5775] +synonym: "bile duct clear cell carcinoma" EXACT [DOID:7032] synonym: "clear cell adenocarcinoma of bile duct" EXACT [NCIT:C5775] synonym: "clear cell adenocarcinoma of the bile duct" EXACT [NCIT:C5775] synonym: "clear cell bile duct adenocarcinoma" EXACT [NCIT:C5775] @@ -75313,7 +75315,7 @@ name: choroid epithelioid cell melanoma def: "A epithelioid cell melanoma that involves the optic choroid." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "choroid epithelioid cell melanoma" EXACT [NCIT:C6102] +synonym: "choroid epithelioid cell melanoma" EXACT [DOID:7041, NCIT:C6102] synonym: "choroidal epithelioid cell melanoma" EXACT [DOID:7041, NCIT:C6102] synonym: "epithelioid cell melanoma of choroid" EXACT [NCIT:C6102] synonym: "epithelioid cell melanoma of optic choroid" EXACT [MONDO:design_pattern] @@ -75336,7 +75338,7 @@ def: "A epithelioid cell melanoma that involves the ciliary body." [MONDO:patter subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ciliary body epithelioid cell melanoma" EXACT [MONDO:patterns/location] +synonym: "ciliary body epithelioid cell melanoma" EXACT [DOID:7042, MONDO:patterns/location, NCIT:C6119] synonym: "epithelioid cell melanoma of ciliary body" EXACT [NCIT:C6119] synonym: "epithelioid cell melanoma of the ciliary body" EXACT [NCIT:C6119] xref: DOID:7042 {source="MONDO:equivalentTo"} @@ -75355,8 +75357,8 @@ name: basaloid large cell lung carcinoma def: "A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis." [NCIT:C7266] subset: otar {source="MONDO:OTAR"} synonym: "basaloid large cell carcinoma of the lung" RELATED [ONCOTREE:BLCLC] -synonym: "basaloid large cell lung carcinoma" EXACT [NCIT:C7266] -synonym: "basaloid lung carcinoma" RELATED [DOID:7045] +synonym: "basaloid large cell lung carcinoma" EXACT [] +synonym: "basaloid lung carcinoma" RELATED [] xref: DOID:7045 {source="MONDO:equivalentTo"} xref: MEDGEN:231419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7266 {source="MONDO:equivalentTo", source="DOID:7045"} @@ -75375,7 +75377,7 @@ def: "An aggressive variant of cervical squamous cell carcinoma characterized by subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cervical basaloid carcinoma" EXACT [NCIT:C40189] -synonym: "cervical basaloid squamous cell carcinoma" EXACT [NCIT:C40189] +synonym: "cervical basaloid squamous cell carcinoma" EXACT [DOID:7046, NCIT:C40189] xref: DOID:7046 {source="MONDO:equivalentTo"} xref: MEDGEN:267027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40189 {source="MONDO:equivalentTo", source="DOID:7046"} @@ -75395,9 +75397,9 @@ synonym: "basaloid carcinoma of penis" EXACT [NCIT:C6980] synonym: "basaloid carcinoma of the penis" EXACT [NCIT:C6980] synonym: "basaloid penile squamous cell carcinoma" EXACT [NCIT:C6980] synonym: "basaloid squamous cell carcinoma of penis" EXACT [NCIT:C6980] -synonym: "basaloid squamous cell carcinoma of the penis" EXACT [NCIT:C6980] +synonym: "basaloid squamous cell carcinoma of the penis" EXACT [] synonym: "BPSCC" RELATED ABBREVIATION [ONCOTREE:BPSCC] -synonym: "penis basaloid carcinoma" RELATED [DOID:7047] +synonym: "penis basaloid carcinoma" RELATED [] synonym: "penis basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "squamous cell carcinoma of penis, basaloid type" EXACT [DOID:7047, NCIT:C6980] synonym: "squamous cell carcinoma of the penis, basaloid type" EXACT [NCIT:C6980] @@ -75419,7 +75421,7 @@ def: "A squamous cell carcinoma that arises from the vulva and is characterized subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "vulvar basaloid carcinoma" EXACT [DOID:7048, NCIT:C40286] -synonym: "vulvar basaloid squamous cell carcinoma" EXACT [NCIT:C40286] +synonym: "vulvar basaloid squamous cell carcinoma" EXACT [DOID:7048, NCIT:C40286] xref: DOID:7048 {source="MONDO:equivalentTo"} xref: MEDGEN:384496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40286 {source="DOID:7048", source="MONDO:equivalentTo"} @@ -75434,7 +75436,7 @@ id: MONDO:0004091 name: skin basaloid carcinoma def: "A basaloid squamous cell carcinoma that involves the zone of skin." [MONDO:patterns/location] synonym: "basaloid skin squamous cell carcinoma" EXACT [NCIT:C27543] -synonym: "basaloid squamous cell skin carcinoma" RELATED [DOID:7049] +synonym: "basaloid squamous cell skin carcinoma" RELATED [] synonym: "skin basaloid carcinoma" EXACT [NCIT:C27543] synonym: "skin basaloid squamous cell carcinoma" EXACT [DOID:7049, NCIT:C27543] synonym: "zone of skin basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location] @@ -75458,7 +75460,7 @@ subset: rare synonym: "basaloid carcinoma of the Thymus" EXACT [DOID:7050, NCIT:C6456] synonym: "basaloid carcinoma of Thymus" EXACT [NCIT:C6456] synonym: "thymic basaloid carcinoma" EXACT [NCIT:C6456] -synonym: "Thymus basaloid carcinoma" EXACT [NCIT:C6456] +synonym: "Thymus basaloid carcinoma" EXACT [DOID:7050, NCIT:C6456] synonym: "thymus basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:7050 {source="MONDO:equivalentTo"} xref: MEDGEN:231420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -75478,11 +75480,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "basaloid squamous carcinoma of esophagus" EXACT [DOID:7051, NCIT:C7032] synonym: "basaloid squamous carcinoma of oesophagus" EXACT OMO:0003005 [] -synonym: "basaloid squamous carcinoma of the esophagus" RELATED [NCIT:C7032] +synonym: "basaloid squamous carcinoma of the esophagus" RELATED [] synonym: "basaloid squamous carcinoma of the oesophagus" RELATED OMO:0003005 [] -synonym: "esophageal basaloid cancer" EXACT [NCIT:C7032] +synonym: "esophageal basaloid cancer" EXACT [] synonym: "esophageal basaloid carcinoma" EXACT [NCIT:C7032] -synonym: "esophageal basaloid squamous cell carcinoma" RELATED [NCIT:C7032] +synonym: "esophageal basaloid squamous cell carcinoma" RELATED [] xref: DOID:7051 {source="MONDO:equivalentTo"} xref: MEDGEN:232156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7032 {source="NCIT:C7032", source="MONDO:equivalentTo", source="DOID:7051"} @@ -75498,7 +75500,7 @@ name: multiple skull base meningioma def: "Multiple meningiomas that affect the skull base." [NCIT:C5279] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "multiple skull base meningiomas" RELATED [NCIT:C5279] +synonym: "multiple skull base meningiomas" RELATED [] xref: DOID:7054 {source="MONDO:equivalentTo"} xref: MEDGEN:233723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5279 {source="MONDO:equivalentTo", source="DOID:7054"} @@ -75513,8 +75515,8 @@ subset: gard_rare {source="GARD:5877", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "B-cell lymphocytic neoplasm" EXACT [DOID:707, NCIT:C27907] -synonym: "B-cell lymphoma" RELATED [DOID:707] +synonym: "B-cell lymphocytic neoplasm" EXACT [DOID:707] +synonym: "B-cell lymphoma" RELATED [] synonym: "B-cell neoplasm" EXACT [NCIT:C27907] synonym: "lymphoma, B-cell" RELATED [GARD:0005877] xref: DOID:707 {source="MONDO:equivalentTo"} @@ -75545,7 +75547,7 @@ subset: rare synonym: "dermoid cyst of spinal cord" EXACT [NCIT:C6808] synonym: "dermoid cyst of the spinal cord" EXACT [NCIT:C6808] synonym: "spinal cord dermoid" EXACT [DOID:7071, NCIT:C6808] -synonym: "spinal cord dermoid cyst" EXACT [MONDO:patterns/location] +synonym: "spinal cord dermoid cyst" EXACT [DOID:7071, MONDO:patterns/location, NCIT:C6808] xref: DOID:7071 {source="MONDO:equivalentTo"} xref: MEDGEN:232125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6808 {source="MONDO:equivalentTo", source="DOID:7071"} @@ -75571,7 +75573,7 @@ subset: rare synonym: "malignant mediastinal melanocytic peripheral nerve sheath tumor" EXACT [NCIT:C6630] synonym: "malignant mediastinal melanocytic peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum" EXACT [MONDO:design_pattern] -synonym: "malignant melanocytic peripheral nerve sheath tumor of mediastinum" EXACT [NCIT:C6630] +synonym: "malignant melanocytic peripheral nerve sheath tumor of mediastinum" EXACT [DOID:7077, NCIT:C6630] synonym: "malignant melanotic peripheral nerve sheath tumor of the mediastinum" EXACT [NCIT:C6630] synonym: "malignant melanotic peripheral nerve sheath tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinal melanocytic MPNST" EXACT [DOID:7077, NCIT:C6630] @@ -75591,7 +75593,7 @@ name: adult cystic teratoma def: "A cystic teratoma that occurs in an adult." [MONDO:design_pattern] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult cystic teratoma" EXACT [NCIT:C9012] +synonym: "adult cystic teratoma" EXACT [DOID:7079, NCIT:C9012] synonym: "cystic teratoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:7079 {source="MONDO:equivalentTo"} xref: MEDGEN:235084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -75609,11 +75611,11 @@ name: lung mixed small cell and squamous cell carcinoma def: "A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "combined small and large cell lung cancer" RELATED EXCLUDE [DOID:7081] +synonym: "combined small and large cell lung cancer" RELATED EXCLUDE [] synonym: "combined small cell and squamous cell lung carcinoma" EXACT [NCIT:C9423] synonym: "mixed small cell and squamous cell carcinoma of lung" RELATED [DOID:7081] synonym: "mixed small cell and squamous cell carcinoma of the lung" EXACT [NCIT:C9423] -synonym: "small cell and large cell carcinoma of the lung" RELATED [DOID:7081, NCIT:C9424] +synonym: "small cell and large cell carcinoma of the lung" RELATED [] synonym: "small cell and squamous cell carcinoma of lung" EXACT [NCIT:C9423] synonym: "small cell and squamous cell carcinoma of the lung" EXACT [DOID:7081, NCIT:C9423] synonym: "small cell and squamous cell lung carcinoma" EXACT [NCIT:C9423] @@ -75629,7 +75631,7 @@ name: multicentric papillary thyroid carcinoma def: "A papillary carcinoma arising from the thyroid gland from multiple foci." [NCIT:C37304] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "multicentric papillary thyroid carcinoma" EXACT [NCIT:C37304] +synonym: "multicentric papillary thyroid carcinoma" EXACT [DOID:7086, NCIT:C37304] synonym: "multicentric papillary thyroid gland carcinoma" EXACT [NCIT:C37304] synonym: "multicentric thyroid gland papillary carcinoma" EXACT [NCIT:C37304] xref: DOID:7086 {source="MONDO:equivalentTo"} @@ -75644,7 +75646,7 @@ name: columnar cell variant thyroid gland papillary carcinoma def: "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells." [NCIT:C35830] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "columnar cell variant papillary carcinoma" EXACT [NCIT:C35830] +synonym: "columnar cell variant papillary carcinoma" EXACT [DOID:7088, NCIT:C35830] synonym: "columnar cell variant papillary thyroid gland carcinoma" EXACT [NCIT:C35830] synonym: "columnar cell variant thyroid gland papillary carcinoma" EXACT [NCIT:C35830] xref: DOID:7088 {source="MONDO:equivalentTo"} @@ -75660,8 +75662,8 @@ name: tall cell variant thyroid gland papillary carcinoma def: "A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present." [NCIT:C35558] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "tall cell variant papillary carcinoma" EXACT [NCIT:C35558] -synonym: "tall cell variant thyroid gland papillary carcinoma" EXACT [NCIT:C35558] +synonym: "tall cell variant papillary carcinoma" EXACT [DOID:7089, NCIT:C35558] +synonym: "tall cell variant thyroid gland papillary carcinoma" EXACT [DOID:7089, NCIT:C35558] xref: DOID:7089 {source="MONDO:equivalentTo"} xref: MEDGEN:234416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35558 {source="MONDO:equivalentTo", source="DOID:7089"} @@ -75674,11 +75676,11 @@ name: splenic manifestation of hairy cell leukemia def: "A hairy cell leukemia that involves the spleen." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "hairy cell leukaemia of spleen" EXACT OMO:0003005 [] +synonym: "hairy cell leukaemia of spleen" EXACT OMO:0003005 [DOID:709] synonym: "hairy cell leukemia of spleen" EXACT [DOID:709] synonym: "spleen hairy cell leukaemia" EXACT OMO:0003005 [] synonym: "spleen hairy cell leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "splenic manifestation of hairy cell leukemia" EXACT [NCIT:C7301] +synonym: "splenic manifestation of hairy cell leukemia" EXACT [DOID:709, NCIT:C7301] xref: DOID:709 {source="MONDO:equivalentTo"} xref: ICD9:202.47 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:234812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -75696,11 +75698,11 @@ name: childhood epithelioid sarcoma def: "An epithelioid sarcoma occurring in childhood." [NCIT:C8095] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood epithelioid sarcoma" EXACT [NCIT:C8095] -synonym: "epithelioid sarcoma" BROAD [NCIT:C8095] +synonym: "childhood epithelioid sarcoma" EXACT [DOID:7095, NCIT:C8095] +synonym: "epithelioid sarcoma" BROAD [] synonym: "epithelioid sarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric epithelioid sarcoma" EXACT OMO:0003005 [] -synonym: "pediatric epithelioid sarcoma" EXACT [MONDO:patterns/childhood, NCIT:C8095] +synonym: "pediatric epithelioid sarcoma" EXACT [DOID:7095, MONDO:patterns/childhood, NCIT:C8095] xref: DOID:7095 {source="MONDO:equivalentTo"} xref: MEDGEN:76055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8095 {source="MONDO:equivalentTo", source="DOID:7095"} @@ -75715,7 +75717,7 @@ name: testicular yolk sac tumor, macrocystic pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces." [NCIT:C39924] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "macrocystic pattern testicular yolk sac tumor" RELATED [DOID:7097] +synonym: "macrocystic pattern testicular yolk sac tumor" RELATED [] synonym: "macrocystic pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, macrocystic pattern" EXACT [NCIT:C39924] xref: DOID:7097 {source="MONDO:equivalentTo"} @@ -75736,7 +75738,7 @@ synonym: "spleen leukaemia (disease)" EXACT OMO:0003005 [] synonym: "spleen leukemia (disease)" EXACT [MONDO:patterns/location] synonym: "splenic leukaemia" RELATED OMO:0003005 [] synonym: "splenic leukemia" RELATED [DOID:710] -synonym: "splenic manifestation of leukemia" EXACT [NCIT:C7296] +synonym: "splenic manifestation of leukemia" EXACT [DOID:710, NCIT:C7296] xref: DOID:710 {source="MONDO:equivalentTo"} xref: MEDGEN:234813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7296 {source="DOID:710", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -75778,14 +75780,14 @@ synonym: "epiglottic tumor" EXACT [DOID:7105, NCIT:C4933] synonym: "epiglottic tumour" EXACT OMO:0003005 [] synonym: "epiglottis neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Epiglottis tumor" EXACT [NCIT:C4933] -synonym: "epiglottis tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "epiglottis tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4933] synonym: "Epiglottis tumour" EXACT OMO:0003005 [] synonym: "epiglottis tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of Epiglottis" EXACT [NCIT:C4933] -synonym: "neoplasm of epiglottis" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of Epiglottis" EXACT [DOID:7105, NCIT:C4933] +synonym: "neoplasm of epiglottis" EXACT [DOID:7105, MONDO:patterns/neoplasm, NCIT:C4933] synonym: "neoplasm of the Epiglottis" EXACT [NCIT:C4933] synonym: "tumor of Epiglottis" EXACT [NCIT:C4933] -synonym: "tumor of epiglottis" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of epiglottis" EXACT [MONDO:patterns/neoplasm, NCIT:C4933] synonym: "tumor of the Epiglottis" EXACT [NCIT:C4933] synonym: "tumour of Epiglottis" EXACT OMO:0003005 [] synonym: "tumour of epiglottis" EXACT OMO:0003005 [] @@ -75824,7 +75826,7 @@ def: "A hematologic malignancy that is resistant to treatment." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "refractory hematologic cancer" EXACT [NCIT:C27357] +synonym: "refractory hematologic cancer" EXACT [DOID:712, NCIT:C27357] synonym: "refractory hematologic malignancy" EXACT [NCIT:C27357] xref: DOID:712 {source="MONDO:equivalentTo"} xref: MEDGEN:233400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -75839,7 +75841,7 @@ intersection_of: has_characteristic HP:0031375 ! Refractory id: MONDO:0004112 name: radiation cystitis def: "Inflammation of the bladder due to irradiation." [NCIT:P378] -synonym: "irradiation cystitis" EXACT [DOID:7127, ICD9CM:595.82] +synonym: "irradiation cystitis" EXACT [DOID:7127, ICD10CM:N30.4, ICD9CM:595.82] xref: DOID:7127 {source="MONDO:equivalentTo"} xref: ICD10CM:N30.4 {source="DOID:7127", source="MONDO:equivalentTo"} xref: ICD9:595.82 {source="DOID:7127", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -75871,12 +75873,12 @@ synonym: "poorly differentiated neuroendocrine carcinoma of the bladder" EXACT [ synonym: "SCCB" EXACT ABBREVIATION [Orphanet:284400] synonym: "small cell bladder cancer" EXACT [Orphanet:284400] synonym: "small cell bladder carcinoma" EXACT [Orphanet:284400] -synonym: "small cell carcinoma of the bladder" RELATED [Orphanet:284400] +synonym: "small cell carcinoma of the bladder" RELATED [] synonym: "small cell carcinoma of the urinary bladder" EXACT [Orphanet:284400] synonym: "small cell carcinoma of urinary bladder" EXACT [MONDO:design_pattern] -synonym: "small cell neuroendocrine carcinoma of the urinary bladder" EXACT [DOID:7132, NCIT:C9461] +synonym: "small cell neuroendocrine carcinoma of the urinary bladder" EXACT [NCIT:C9461] synonym: "small cell neuroendocrine carcinoma of urinary bladder" EXACT [NCIT:C9461] -synonym: "small cell/neuroendocrine carcinoma of urinary bladder" EXACT [DOID:7132, NCIT:C9461] +synonym: "small cell/neuroendocrine carcinoma of urinary bladder" EXACT [DOID:7132] synonym: "urinary bladder small cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:7132 {source="MONDO:equivalentTo"} xref: EFO:1000129 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -75921,13 +75923,13 @@ synonym: "esophageal small cell carcinoma" EXACT [NCIT:C6762] synonym: "esophageal small cell NEC" EXACT [NCIT:C6762] synonym: "esophageal small cell neuroendocrine carcinoma" EXACT [NCIT:C6762] synonym: "esophagus Oat cell carcinoma" EXACT [NCIT:C6762] -synonym: "esophagus small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6762] +synonym: "esophagus small cell carcinoma" EXACT [DOID:7134, MONDO:patterns/location, NCIT:C6762] synonym: "Oat cell carcinoma of esophagus" EXACT [DOID:7134, NCIT:C6762] -synonym: "Oat cell carcinoma of oesophagus" EXACT OMO:0003005 [] +synonym: "Oat cell carcinoma of oesophagus" EXACT OMO:0003005 [DOID:7134] synonym: "Oat cell carcinoma of the esophagus" EXACT [NCIT:C6762] synonym: "Oat cell carcinoma of the oesophagus" EXACT OMO:0003005 [] synonym: "oesophagus Oat cell carcinoma" EXACT OMO:0003005 [] -synonym: "oesophagus small cell carcinoma" EXACT OMO:0003005 [] +synonym: "oesophagus small cell carcinoma" EXACT OMO:0003005 [DOID:7134] synonym: "small cell carcinoma of esophagus" EXACT [NCIT:C6762] synonym: "small cell carcinoma of oesophagus" EXACT OMO:0003005 [] synonym: "small cell carcinoma of the esophagus" EXACT [NCIT:C6762] @@ -75950,7 +75952,7 @@ name: ampulla of vater small cell neuroendocrine carcinoma def: "An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss." [NCIT:C6655] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ampulla of Vater small cell carcinoma" EXACT [NCIT:C6655] +synonym: "ampulla of Vater small cell carcinoma" EXACT [DOID:7136, NCIT:C6655] synonym: "ampulla of Vater small cell NEC" EXACT [NCIT:C6655] synonym: "ampulla of Vater small cell neuroendocrine carcinoma" EXACT [NCIT:C6655] synonym: "ampullary small cell carcinoma" EXACT [DOID:7136, NCIT:C6655] @@ -75990,8 +75992,8 @@ name: Bartholin gland small cell carcinoma def: "A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Bartholin gland small cell carcinoma" EXACT [DOID:7140, NCIT:C40298] -synonym: "Bartholin's gland small cell carcinoma" EXACT [NCIT:C40298] +synonym: "Bartholin gland small cell carcinoma" EXACT [NCIT:C40298] +synonym: "Bartholin's gland small cell carcinoma" EXACT [DOID:7140, NCIT:C40298] synonym: "major vestibular gland small cell carcinoma" EXACT [MONDO:patterns/location] synonym: "small cell carcinoma of major vestibular gland" EXACT [MONDO:design_pattern] xref: DOID:7140 {source="MONDO:equivalentTo"} @@ -76018,11 +76020,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "small cell carcinoma of the Thymus" EXACT [DOID:7142, NCIT:C6460] synonym: "small cell carcinoma of Thymus" EXACT [NCIT:C6460] -synonym: "small cell carcinoma of thymus" EXACT [] +synonym: "small cell carcinoma of thymus" EXACT [NCIT:C6460] synonym: "thymic small cell carcinoma" EXACT [MONDO:0006453, NCIT:C6460] synonym: "thymic small cell carcinoma neuroendocrine type" EXACT [NCIT:C6460] -synonym: "Thymus small cell carcinoma" EXACT [NCIT:C6460] -synonym: "thymus small cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "Thymus small cell carcinoma" EXACT [DOID:7142, NCIT:C6460] +synonym: "thymus small cell carcinoma" EXACT [DOID:7142, MONDO:patterns/location, NCIT:C6460] xref: DOID:7142 {source="MONDO:equivalentTo"} xref: EFO:1000578 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:234784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76046,7 +76048,7 @@ name: prostate stromal sarcoma def: "A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism." [NCIT:C5524] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "prostate stromal sarcoma" EXACT [NCIT:C5524] +synonym: "prostate stromal sarcoma" EXACT [DOID:7152, NCIT:C5524] synonym: "stromal sarcoma of prostate" EXACT [NCIT:C5524] synonym: "stromal sarcoma of the prostate" EXACT [DOID:7152, NCIT:C5524] xref: DOID:7152 {source="MONDO:equivalentTo"} @@ -76064,8 +76066,8 @@ name: rectum leiomyoma def: "A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378] synonym: "leiomyoma of rectum" EXACT [DOID:7160, NCIT:C5552] synonym: "leiomyoma of the rectum" EXACT [NCIT:C5552] -synonym: "rectal leiomyoma" EXACT [NCIT:C5552] -synonym: "rectum leiomyoma" EXACT [MONDO:patterns/location] +synonym: "rectal leiomyoma" EXACT [DOID:7160, NCIT:C5552] +synonym: "rectum leiomyoma" EXACT [DOID:7160, MONDO:patterns/location] xref: DOID:7160 {source="MONDO:equivalentTo"} xref: MEDGEN:233390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5552 {source="DOID:7160", source="MONDO:equivalentTo"} @@ -76083,7 +76085,7 @@ def: "Inflammation of the thyroid gland. This category includes Hashimoto thyroi subset: otar {source="MONDO:OTAR"} synonym: "inflammation of thyroid gland" EXACT [] synonym: "thyroid gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "thyroiditis" EXACT [MONDO:ambiguous] +synonym: "thyroiditis" EXACT [DOID:7166, icd11.foundation:587793334, MONDO:ambiguous, NCIT:C26894] synonym: "thyroiditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:7166 {source="MONDO:equivalentTo"} xref: HP:0100646 {source="MONDO:otherHierarchy"} @@ -76112,9 +76114,9 @@ name: lung occult adenocarcinoma def: "A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." [NCIT:C6699] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "occult adenocarcinoma of lung" RELATED [DOID:7168, NCIT:C6699] +synonym: "occult adenocarcinoma of lung" RELATED [DOID:7168] synonym: "occult adenocarcinoma of the lung" EXACT [DOID:7168, NCIT:C6699] -synonym: "occult lung adenocarcinoma" RELATED [NCIT:C6699] +synonym: "occult lung adenocarcinoma" RELATED [] xref: DOID:7168 {source="MONDO:equivalentTo"} xref: MEDGEN:277443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6699 {source="MONDO:equivalentTo", source="NCIT:C6699", source="DOID:7168"} @@ -76125,9 +76127,9 @@ is_a: MONDO:0005061 {source="DOID:7168", source="NCIT:C6699"} ! lung adenocarcin id: MONDO:0004128 name: lung occult large cell carcinoma def: "A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." [NCIT:C6685] -synonym: "occult large cell carcinoma of lung" RELATED [NCIT:C6685] +synonym: "occult large cell carcinoma of lung" RELATED [] synonym: "occult large cell carcinoma of the lung" EXACT [DOID:7169, NCIT:C6685] -synonym: "occult large cell lung carcinoma" RELATED [NCIT:C6685] +synonym: "occult large cell lung carcinoma" RELATED [] xref: DOID:7169 {source="MONDO:equivalentTo"} xref: MEDGEN:235399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6685 {source="DOID:7169", source="NCIT:C6685", source="MONDO:equivalentTo"} @@ -76145,8 +76147,8 @@ synonym: "anal canal cloacogenic cancer" EXACT [NCIT:C8255] synonym: "anal canal cloacogenic carcinoma" EXACT [NCIT:C8255] synonym: "anal cloacogenic carcinoma" EXACT [NCIT:C8255] synonym: "cloacogenic anal carcinoma" EXACT [DOID:7173, NCIT:C8255] -synonym: "cloacogenic carcinoma" EXACT [OMIM:105580] -synonym: "cloacogenic carcinoma (morphologic abnormality)" EXACT [DOID:7173] +synonym: "cloacogenic carcinoma" EXACT [DOID:7173, NCIT:C8255] +synonym: "cloacogenic carcinoma (morphologic abnormality)" EXACT [] synonym: "cloacogenic carcinoma of anus" EXACT [NCIT:C8255] synonym: "cloacogenic carcinoma of the anus" EXACT [NCIT:C8255] xref: DOID:7173 {source="MONDO:equivalentTo"} @@ -76170,7 +76172,7 @@ subset: rare synonym: "anal basaloid carcinoma" EXACT [DOID:7174, NCIT:C8256] synonym: "anus basaloid squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "basaloid carcinoma of anus" EXACT [NCIT:C8256] -synonym: "basaloid carcinoma of the anus" EXACT [DOID:7174, NCIT:C8256] +synonym: "basaloid carcinoma of the anus" EXACT [NCIT:C8256] xref: DOID:7174 {source="MONDO:equivalentTo"} xref: MEDGEN:79125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8256 {source="MONDO:equivalentTo", source="DOID:7174"} @@ -76186,7 +76188,7 @@ name: anal verrucous carcinoma def: "A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma." [NCIT:C7470] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "anal Buschke-Lowenstein tumor" EXACT [NCIT:C7470] +synonym: "anal Buschke-Lowenstein tumor" EXACT [DOID:7175, NCIT:C7470] synonym: "anal Buschke-Lowenstein tumour" EXACT OMO:0003005 [] synonym: "anal giant (malignant) condyloma" EXACT [DOID:7175, NCIT:C7470] synonym: "anal verrucous carcinoma" EXACT [NCIT:C7470] @@ -76209,8 +76211,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:424019"} subset: orphanet_rare {source="Orphanet:424019"} subset: rare -synonym: "anal canal squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7469] -synonym: "squamous cell carcinoma of the anal canal" EXACT [MONDO:0018519] +synonym: "anal canal squamous cell carcinoma" EXACT [DOID:7177, MONDO:patterns/location, NCIT:C7469] +synonym: "squamous cell carcinoma of the anal canal" EXACT [MONDO:0018519, Orphanet:424019] xref: DOID:7177 {source="MONDO:equivalentTo"} xref: GARD:21774 {source="MONDO:GARD"} xref: ICD10CM:C21.1 {source="Orphanet:424019/ntbt", source="Orphanet:424019"} @@ -76232,9 +76234,9 @@ def: "An epithelial neoplasm of the anterior pituitary gland in which the neopla subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "mixed acidophil-basophil adenoma" EXACT [NCIT:C4148] -synonym: "mixed acidophil-basophil adenoma (morphologic abnormality)" EXACT [DOID:7179] -synonym: "mixed eosinophil-basophil adenoma" RELATED [DOID:7179] +synonym: "mixed acidophil-basophil adenoma" EXACT [DOID:7179, NCIT:C4148] +synonym: "mixed acidophil-basophil adenoma (morphologic abnormality)" EXACT [] +synonym: "mixed eosinophil-basophil adenoma" RELATED [] synonym: "pituitary gland mixed acidophil-basophil adenoma" EXACT [NCIT:C4148] xref: DOID:7179 {source="MONDO:equivalentTo"} xref: ICDO:8281/0 {source="NCIT:C4148"} @@ -76265,7 +76267,7 @@ id: MONDO:0004135 name: subacute lymphocytic thyroiditis def: "Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function." [NCIT:P378] synonym: "silent thyroiditis" EXACT [NCIT:C35829] -synonym: "Subacute lymphocytic thyroiditis" EXACT [DOID:7187] +synonym: "Subacute lymphocytic thyroiditis" EXACT [DOID:7187, NCIT:C35829] synonym: "Subacute painless thyroiditis" EXACT [NCIT:C35829] xref: DOID:7187 {source="MONDO:equivalentTo"} xref: MEDGEN:266299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76280,7 +76282,7 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0004136 name: ovarian endometrioid cystadenoma def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells." [NCIT:C40075] -synonym: "ovarian endometrioid cystadenoma" EXACT [NCIT:C40075] +synonym: "ovarian endometrioid cystadenoma" EXACT [DOID:7191, NCIT:C40075] xref: DOID:7191 {source="MONDO:equivalentTo"} xref: MEDGEN:309509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40075 {source="DOID:7191", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -76308,7 +76310,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "anaemia normocytic" EXACT OMO:0003005 [] synonym: "anemia normocytic" EXACT [DOID:720, MTH:NOCODE] synonym: "normocytic Anaemia" EXACT OMO:0003005 [] -synonym: "normocytic Anemia" EXACT [NCIT:C35142] +synonym: "normocytic Anemia" EXACT [DOID:720, NCIT:C35142] xref: DOID:720 {source="MONDO:equivalentTo"} xref: ICD9:285.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:39310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76324,8 +76326,8 @@ def: "An immature teratoma characterized by the presence of an intermediate amou subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Intermediate immature teratoma" EXACT [DOID:7202, NCIT:C4288] -synonym: "malignant teratoma, intermediate" EXACT [DOID:7202] -synonym: "malignant teratoma, intermediate (morphologic abnormality)" EXACT [DOID:7202] +synonym: "malignant teratoma, intermediate" EXACT [DOID:7202, NCIT:C4288] +synonym: "malignant teratoma, intermediate (morphologic abnormality)" EXACT [] xref: DOID:7202 {source="MONDO:equivalentTo"} xref: ICDO:9083/3 {source="NCIT:C4288"} xref: MEDGEN:83161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76337,7 +76339,7 @@ is_a: MONDO:0003514 {source="DOID:7202"} ! malignant teratoma [Term] id: MONDO:0004141 name: melanomatosis -synonym: "melanomatosis" EXACT [NCIT:C9499] +synonym: "melanomatosis" EXACT [DOID:7206] xref: DOID:7206 {source="MONDO:equivalentTo"} xref: MEDGEN:235317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9499 {source="MONDO:equivalentObsolete", source="DOID:7206", source="MONDO:exact-label-match"} @@ -76351,7 +76353,7 @@ def: "A subtype of large cell neuroendocrine lung carcinoma characterized by the subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "combined large cell lung neuroendocrine carcinoma" EXACT [NCIT:C7267] -synonym: "combined large cell neuroendocrine carcinoma of lung" EXACT [DOID:7207, NCIT:C7267] +synonym: "combined large cell neuroendocrine carcinoma of lung" EXACT [NCIT:C7267] synonym: "combined large cell neuroendocrine carcinoma of the lung" EXACT [NCIT:C7267] synonym: "pulmonary combined large cell neuroendocrine carcinoma" EXACT [DOID:7207, NCIT:C7267] xref: DOID:7207 {source="MONDO:equivalentTo"} @@ -76367,7 +76369,7 @@ name: psammomatous meningioma def: "A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells." [NCIT:C4331] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "psammomatous meningioma (morphologic abnormality)" EXACT [DOID:7210] +synonym: "psammomatous meningioma (morphologic abnormality)" EXACT [] xref: DOID:7210 {source="MONDO:equivalentTo"} xref: ICDO:9533/0 {source="NCIT:C4331"} xref: MEDGEN:90815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76384,7 +76386,7 @@ def: "A WHO grade I meningioma characterized by the presence of spindle cells th subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "fibroblastic meningioma" EXACT [DOID:7211, NCIT:C4330] -synonym: "fibrous meningioma (morphologic abnormality)" EXACT [DOID:7211] +synonym: "fibrous meningioma (morphologic abnormality)" EXACT [] xref: DOID:7211 {source="MONDO:equivalentTo"} xref: ICDO:9532/0 {source="NCIT:C4330"} xref: MEDGEN:137789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76400,7 +76402,7 @@ name: meningothelial meningioma def: "A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present." [NCIT:C4329] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "meningothelial meningioma (morphologic abnormality)" EXACT [DOID:7212] +synonym: "meningothelial meningioma (morphologic abnormality)" EXACT [] synonym: "Meningotheliomatous meningioma" EXACT [DOID:7212, NCIT:C4329] xref: DOID:7212 {source="MONDO:equivalentTo"} xref: ICDO:9531/0 {source="NCIT:C4329"} @@ -76420,7 +76422,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "mixed meningioma" EXACT [NCIT:C4333] synonym: "transitional (mixed) meningioma" EXACT [DOID:7213, NCIT:C4333] -synonym: "transitional meningioma (morphologic abnormality)" EXACT [DOID:7213] +synonym: "transitional meningioma (morphologic abnormality)" EXACT [] xref: DOID:7213 {source="MONDO:equivalentTo"} xref: ICDO:9537/0 {source="NCIT:C4333"} xref: MEDGEN:83174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76451,7 +76453,7 @@ def: "An intraluminal papillary neoplasm, usually with high grade intraepithelia subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "gall bladder papillary carcinoma" EXACT [MONDO:patterns/location] -synonym: "gallbladder papillary carcinoma" RELATED [DOID:7221] +synonym: "gallbladder papillary carcinoma" RELATED [] synonym: "gallbladder papillary neoplasm with an associated invasive cancer" EXACT [NCIT:C5743] synonym: "gallbladder papillary neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5743] synonym: "intracystic papillary neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5743] @@ -76473,7 +76475,7 @@ id: MONDO:0004149 name: gallbladder pleomorphic giant cell adenocarcinoma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "pleomorphic giant cell adenocarcinoma of the gallbladder" EXACT [DOID:7222, NCIT:C5838] +synonym: "pleomorphic giant cell adenocarcinoma of the gallbladder" EXACT [DOID:7222] xref: DOID:7222 {source="MONDO:equivalentTo"} is_a: MONDO:0006215 {source="DOID:7222"} ! gallbladder adenocarcinoma @@ -76485,11 +76487,11 @@ subset: gard_rare {source="GARD:20206", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:180267"} subset: orphanet_rare {source="Orphanet:180267"} subset: rare -synonym: "breast giant fibroadenoma" EXACT [NCIT:C4273] +synonym: "breast giant fibroadenoma" EXACT [DOID:7223, NCIT:C4273] synonym: "giant adenofibroma of the breast" EXACT [Orphanet:180267] synonym: "giant breast fibroadenoma" EXACT [NCIT:C4273] synonym: "giant fibroadenoma" EXACT [DOID:7223, NCIT:C4273] -synonym: "giant fibroadenoma of breast" EXACT [NCIT:C4273] +synonym: "giant fibroadenoma of breast" EXACT [DOID:7223, NCIT:C4273] synonym: "giant fibroadenoma of the breast" EXACT [NCIT:C4273] xref: DOID:7223 {source="MONDO:equivalentTo"} xref: GARD:20206 {source="MONDO:GARD"} @@ -76536,7 +76538,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation" EXACT [NCIT:C37201] synonym: "CLL/SLL with IGVH SHM" EXACT [DOID:7230, NCIT:C37201] -synonym: "postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [NCIT:C37201] +synonym: "postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [DOID:7230, NCIT:C37201] synonym: "postgerminal centre chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT OMO:0003005 [] xref: DOID:7230 {source="MONDO:equivalentTo"} xref: MEDGEN:232076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76551,12 +76553,12 @@ def: "An embryonal carcinoma that arises from the central nervous system and occ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood central nervous system embryonal carcinoma" EXACT [NCIT:C6208] -synonym: "childhood CNS embryonal cell carcinoma" EXACT [NCIT:C6208] +synonym: "childhood CNS embryonal cell carcinoma" EXACT [DOID:7231, NCIT:C6208] synonym: "childhood embryonal carcinoma of the central nervous system" EXACT [MONDO:design_pattern] synonym: "embryonal carcinoma of childhood central nervous system" EXACT [NCIT:C6208] synonym: "embryonal carcinoma of childhood CNS" EXACT [NCIT:C6208] synonym: "embryonal carcinoma of paediatric central nervous system" EXACT OMO:0003005 [] -synonym: "embryonal carcinoma of paediatric CNS" EXACT OMO:0003005 [] +synonym: "embryonal carcinoma of paediatric CNS" EXACT OMO:0003005 [DOID:7231] synonym: "embryonal carcinoma of pediatric central nervous system" EXACT [NCIT:C6208] synonym: "embryonal carcinoma of pediatric CNS" EXACT [DOID:7231, NCIT:C6208] synonym: "embryonal carcinoma of the central nervous system of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] @@ -76570,7 +76572,7 @@ synonym: "paediatric central nervous system embryonal carcinoma" EXACT OMO:00030 synonym: "paediatric CNS embryonal cell carcinoma" RELATED OMO:0003005 [] synonym: "paediatric embryonal carcinoma of the central nervous system" EXACT OMO:0003005 [] synonym: "pediatric central nervous system embryonal carcinoma" EXACT [NCIT:C6208] -synonym: "pediatric CNS embryonal cell carcinoma" RELATED [DOID:7231] +synonym: "pediatric CNS embryonal cell carcinoma" RELATED [] synonym: "pediatric embryonal carcinoma of the central nervous system" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:7231 {source="MONDO:equivalentTo"} xref: MEDGEN:277988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76594,7 +76596,7 @@ name: adult central nervous system embryonal carcinoma def: "A embryonal carcinoma of the central nervous system that occurs in an adult." [MONDO:design_pattern] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult central nervous system embryonal carcinoma" EXACT [NCIT:C5790] +synonym: "adult central nervous system embryonal carcinoma" EXACT [DOID:7233, NCIT:C5790] synonym: "adult CNS embryonal carcinoma" EXACT [NCIT:C5790] synonym: "adult embryonal carcinoma of the central nervous system" EXACT [MONDO:design_pattern] synonym: "Central nervous system embryonal carcinoma" EXACT [NCIT:C5790] @@ -76620,12 +76622,12 @@ synonym: "colloid Cystadencarcinoma of pancreas" EXACT [NCIT:C5713] synonym: "colloid Cystadencarcinoma of the pancreas" EXACT [NCIT:C5713] synonym: "colloidal Cystadencarcinoma of pancreas" EXACT [NCIT:C5713] synonym: "colloidal Cystadencarcinoma of the pancreas" EXACT [NCIT:C5713] -synonym: "mucinous Cystadencarcinoma of pancreas" EXACT [DOID:7234, NCIT:C5713] +synonym: "mucinous Cystadencarcinoma of pancreas" EXACT [NCIT:C5713] synonym: "mucinous Cystadencarcinoma of the pancreas" EXACT [NCIT:C5713] synonym: "pancreatic colloid Cystadencarcinoma" EXACT [NCIT:C5713] -synonym: "pancreatic colloid cystadenocarcinoma" RELATED [DOID:7234] +synonym: "pancreatic colloid cystadenocarcinoma" RELATED [] synonym: "pancreatic colloidal Cystadencarcinoma" EXACT [NCIT:C5713] -synonym: "pancreatic mucinous cystadenocarcinoma" EXACT [NCIT:C5713] +synonym: "pancreatic mucinous cystadenocarcinoma" EXACT [DOID:7234, NCIT:C5713] xref: DOID:7234 {source="MONDO:equivalentTo"} xref: MEDGEN:1433902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5713 {source="MONDO:equivalentTo", source="DOID:7234"} @@ -76644,7 +76646,7 @@ replaced_by: MONDO:0018523 id: MONDO:0004158 name: pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma def: "A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component." [NCIT:C41246] -synonym: "pancreatic invasive mucinous cystadenocarcinoma" EXACT [NCIT:C41246] +synonym: "pancreatic invasive mucinous cystadenocarcinoma" EXACT [DOID:7236, NCIT:C41246] synonym: "pancreatic mucinous cystic neoplasm with an associated invasive carcinoma" EXACT [NCIT:C41246] synonym: "pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma" EXACT [NCIT:C41246] xref: DOID:7236 {source="MONDO:equivalentTo"} @@ -76707,7 +76709,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "body of uterus cellular leiomyoma" EXACT [MONDO:patterns/location] synonym: "cellular leiomyoma of body of uterus" EXACT [MONDO:design_pattern] -synonym: "uterine corpus cellular leiomyoma" EXACT [NCIT:C40163] +synonym: "uterine corpus cellular leiomyoma" EXACT [DOID:7242, NCIT:C40163] xref: DOID:7242 {source="MONDO:equivalentTo"} xref: MEDGEN:276938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40163 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7242"} @@ -76726,7 +76728,7 @@ name: bladder urachal urothelial carcinoma def: "A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium." [NCIT:C39844] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "bladder urachal urothelial carcinoma" EXACT [NCIT:C39844] +synonym: "bladder urachal urothelial carcinoma" EXACT [DOID:7244, NCIT:C39844] xref: DOID:7244 {source="MONDO:equivalentTo"} xref: MEDGEN:267744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39844 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7244"} @@ -76740,7 +76742,7 @@ intersection_of: disease_arises_from_structure UBERON:0011202 ! urachus epitheli id: MONDO:0004164 name: lymphoepithelioma-like acinar prostate adenocarcinoma def: "A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates." [NCIT:P378] -synonym: "acinar prostate adenocarcinoma, lymphoepithelioma-like variant" EXACT [NCIT:C39885] +synonym: "acinar prostate adenocarcinoma, lymphoepithelioma-like variant" EXACT [] synonym: "lymphoepithelioma-like variant acinar prostate adenocarcinoma" EXACT [DOID:7246] xref: DOID:7246 {source="MONDO:equivalentTo"} xref: MEDGEN:1834954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76772,7 +76774,7 @@ def: "Fallopian tube carcinoma that has developed in relatives of patients that subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "familial fallopian tube carcinoma" EXACT [NCIT:C40455] -synonym: "familiar fallopian tube carcinoma" RELATED [DOID:7266] +synonym: "familiar fallopian tube carcinoma" RELATED [] synonym: "hereditary fallopian tube cancer" EXACT [NCIT:C40455] synonym: "hereditary fallopian tube carcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C40455] xref: DOID:7266 {source="MONDO:equivalentTo"} @@ -76866,10 +76868,10 @@ synonym: "adenocarcinoma of Skene gland origin" EXACT [NCIT:C39863] synonym: "carcinoma of paraurethral gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of Skene gland" EXACT [NCIT:C39863] synonym: "carcinoma of Skene's gland" EXACT [NCIT:C39863] -synonym: "carcinoma of the paraurethral gland" EXACT [DOID:7284, NCIT:C7371] +synonym: "carcinoma of the paraurethral gland" EXACT [DOID:7284] synonym: "paraurethral gland adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "paraurethral gland carcinoma" EXACT [DOID:7284, MONDO:patterns/location] -synonym: "Skene gland carcinoma" RELATED [DOID:7284] +synonym: "Skene gland carcinoma" RELATED [] xref: DOID:7284 {source="MONDO:equivalentTo"} xref: MEDGEN:282906 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39863 {source="MONDO:equivalentTo", source="DOID:7284"} @@ -76883,8 +76885,8 @@ intersection_of: disease_has_location UBERON:0010145 ! paraurethral gland id: MONDO:0004174 name: secretory uterine corpus endometrioid adenocarcinoma def: "An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium." [NCIT:P378] -synonym: "endometrial endometrioid adenocarcinoma, secretory variant" EXACT [NCIT:C27839] -synonym: "secretory uterine corpus endometrioid adenocarcinoma" EXACT [NCIT:C27839] +synonym: "endometrial endometrioid adenocarcinoma, secretory variant" EXACT [DOID:7289, NCIT:C27839] +synonym: "secretory uterine corpus endometrioid adenocarcinoma" EXACT [DOID:7289, NCIT:C27839] xref: DOID:7289 {source="MONDO:equivalentTo"} xref: ICDO:8382/3 {source="NCIT:C27839"} xref: MEDGEN:690079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76909,8 +76911,8 @@ name: childhood extraosseous osteosarcoma def: "An osteosarcoma arising from the soft tissue, and occurring during childhood." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood extraosseous osteosarcoma" EXACT [NCIT:C27376] -synonym: "childhood extraskeletal osteosarcoma" EXACT [NCIT:C27376] +synonym: "childhood extraosseous osteosarcoma" EXACT [DOID:7297, NCIT:C27376] +synonym: "childhood extraskeletal osteosarcoma" EXACT [DOID:7297, NCIT:C27376] synonym: "extraosseous osteosarcoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric extraosseous osteosarcoma" EXACT OMO:0003005 [] synonym: "paediatric extraskeletal osteosarcoma" EXACT OMO:0003005 [] @@ -76939,13 +76941,13 @@ synonym: "benign urethra neoplasm" EXACT [NCIT:C3619] synonym: "benign urethra tumor" EXACT [NCIT:C3619] synonym: "benign urethra tumour" EXACT OMO:0003005 [] synonym: "benign urethral neoplasm" EXACT [NCIT:C3619] -synonym: "benign urethral neoplasm NOS" RELATED EXCLUDE [NCIT:C3619] +synonym: "benign urethral neoplasm NOS" RELATED EXCLUDE [] synonym: "benign urethral tumor" EXACT [NCIT:C3619] synonym: "benign urethral tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of urethra" RELATED EXCLUDE [DOID:730] -synonym: "neoplasm. urethra" EXACT [DOID:730, NCIT:C3428] +synonym: "neoplasm of urethra" RELATED EXCLUDE [] +synonym: "neoplasm. urethra" EXACT [DOID:730] synonym: "urethra benign neoplasm" EXACT [MONDO:patterns/location] -synonym: "urethral benign neoplasm" RELATED [DOID:730] +synonym: "urethral benign neoplasm" RELATED [] xref: DOID:730 {source="MONDO:equivalentTo"} xref: ICD9:223.81 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:57812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -76967,7 +76969,7 @@ name: testicular yolk sac tumor, endodermal sinus pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli." [NCIT:C39927] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "endodermal sinus pattern testicular yolk sac tumor" RELATED [DOID:7302] +synonym: "endodermal sinus pattern testicular yolk sac tumor" RELATED [] synonym: "endodermal sinus pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, endodermal sinus pattern" EXACT [NCIT:C39927] xref: DOID:7302 {source="MONDO:equivalentTo"} @@ -76986,24 +76988,24 @@ replaced_by: MONDO:0016707 id: MONDO:0004180 name: benign urinary system neoplasm def: "A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma." [NCIT:C4893] -synonym: "benign neoplasm of the urinary tract" EXACT [NCIT:C4893] -synonym: "benign neoplasm of urinary tract" EXACT [NCIT:C4893] -synonym: "benign tumor of the urinary tract" EXACT [NCIT:C4893] -synonym: "benign tumor of urinary tract" EXACT [NCIT:C4893] +synonym: "benign neoplasm of the urinary tract" EXACT [] +synonym: "benign neoplasm of urinary tract" EXACT [] +synonym: "benign tumor of the urinary tract" EXACT [] +synonym: "benign tumor of urinary tract" EXACT [] synonym: "benign tumour of the urinary tract" EXACT OMO:0003005 [] synonym: "benign tumour of urinary tract" EXACT OMO:0003005 [] synonym: "benign urinary system neoplasm" EXACT [NCIT:C4893] -synonym: "benign urinary tract neoplasm" EXACT [NCIT:C4893] -synonym: "benign urinary tract tumor" EXACT [NCIT:C4893] +synonym: "benign urinary tract neoplasm" EXACT [] +synonym: "benign urinary tract tumor" EXACT [] synonym: "benign urinary tract tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of urinary system" BROAD [DOID:731] +synonym: "neoplasm of urinary system" BROAD [] synonym: "renal system benign neoplasm" EXACT [MONDO:patterns/location] -synonym: "tumor of the urinary system" BROAD [DOID:731, NCIT:C3431] -synonym: "tumor of urinary tract" BROAD [DOID:731] +synonym: "tumor of the urinary system" BROAD [] +synonym: "tumor of urinary tract" BROAD [] synonym: "tumour of the urinary system" BROAD OMO:0003005 [] synonym: "tumour of urinary tract" BROAD OMO:0003005 [] -synonym: "urinary system benign neoplasm" RELATED [DOID:731] -synonym: "urinary tract neoplasm" BROAD [DOID:731] +synonym: "urinary system benign neoplasm" RELATED [] +synonym: "urinary tract neoplasm" BROAD [] xref: DOID:731 {source="MONDO:equivalentTo"} xref: ICD9:223.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:223.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -77035,9 +77037,9 @@ id: MONDO:0004182 name: stage IVb bladder cancer def: "Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis." [NCIT:C9368] comment: Editor note: consider obsoleting or moving to stage -synonym: "Jewett-Marshall bladder cancer" RELATED [DOID:7315] +synonym: "Jewett-Marshall bladder cancer" RELATED [] synonym: "Jewett-Marshall stage D1 bladder cancer" RELATED [DOID:7315] -synonym: "Jewett-Marshall stage D2 bladder cancer" EXACT [DOID:7315, NCIT:C9368] +synonym: "Jewett-Marshall stage D2 bladder cancer" EXACT [NCIT:C9368] synonym: "Jewett-Marshall stage D2 urinary bladder cancer" EXACT [NCIT:C9368] synonym: "Jewett-Marshall stage D2 urinary bladder carcinoma" EXACT [NCIT:C9368] synonym: "stage IVB bladder cancer" EXACT [NCIT:C9368] @@ -77057,7 +77059,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "axon peripheral neuropathy" EXACT [MONDO:patterns/location] -synonym: "axonal neuropathy" EXACT [NCIT:C27301] +synonym: "axonal neuropathy" EXACT [DOID:7319, NCIT:C27301] synonym: "peripheral neuropathy of axon" EXACT [MONDO:design_pattern] xref: DOID:7319 {source="MONDO:equivalentTo"} xref: MEDGEN:266071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -77097,7 +77099,7 @@ intersection_of: disease_has_location UBERON:0000057 ! urethra id: MONDO:0004185 name: ovarian serous cystadenofibroma def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma." [NCIT:C40032] -synonym: "ovarian serous cystadenofibroma" EXACT [NCIT:C40032] +synonym: "ovarian serous cystadenofibroma" EXACT [DOID:7320, NCIT:C40032] synonym: "ovary serous cystadenofibroma" EXACT [MONDO:patterns/location] xref: DOID:7320 {source="MONDO:equivalentTo"} xref: MEDGEN:167919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -77115,7 +77117,7 @@ def: "A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm th subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cranial nodular fasciitis" EXACT [NCIT:C27248] -synonym: "cranial pseudosarcomatous fasciitis" EXACT [NCIT:C27248] +synonym: "cranial pseudosarcomatous fasciitis" EXACT [DOID:7326, NCIT:C27248] xref: DOID:7326 {source="MONDO:equivalentTo"} xref: MEDGEN:272511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27248 {source="DOID:7326", source="MONDO:equivalentTo"} @@ -77135,9 +77137,9 @@ subset: orphanet_rare {source="Orphanet:477742"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fasciitis - nodular" EXACT [DOID:7327] -synonym: "nodular fasciitis" EXACT [DOID:7327, MONDO:0018785, NCIT:C3827] -synonym: "pseudosarcomatous fasciitis" EXACT [DOID:7327, NCIT:C3827, Orphanet:477742] -synonym: "pseudosarcomatous fibromatosis" EXACT [DOID:7327, Orphanet:477742] +synonym: "nodular fasciitis" EXACT [DOID:7327, ICD10CM:M72.4, icd11.foundation:789101380, MONDO:0018785, NCIT:C3827, Orphanet:477742] +synonym: "pseudosarcomatous fasciitis" EXACT [DOID:7327, icd11.foundation:789101380, NCIT:C3827, Orphanet:477742] +synonym: "pseudosarcomatous fibromatosis" EXACT [DOID:7327, ICD10CM:M72.4, Orphanet:477742] xref: DOID:7327 {source="MONDO:equivalentTo"} xref: GARD:21959 {source="MONDO:GARD"} xref: ICD10CM:M72.4 {source="DOID:7327", source="MONDO:equivalentTo"} @@ -77165,7 +77167,7 @@ name: iris spindle cell melanoma def: "A spindle cell melanoma that involves the iris." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "iris spindle cell melanoma" EXACT [MONDO:patterns/location] +synonym: "iris spindle cell melanoma" EXACT [DOID:7328, MONDO:patterns/location, NCIT:C6098] synonym: "spindle cell melanoma of iris" EXACT [NCIT:C6098] synonym: "spindle cell melanoma of the iris" EXACT [NCIT:C6098] xref: DOID:7328 {source="MONDO:equivalentTo"} @@ -77209,7 +77211,7 @@ id: MONDO:0004190 name: nephrogenic adenoma of urinary bladder def: "A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi." [NCIT:P378] synonym: "nephrogenic adenoma of the urinary bladder" EXACT [DOID:7333, NCIT:C7415] -synonym: "urinary bladder nephrogenic adenoma" EXACT [MONDO:patterns/location] +synonym: "urinary bladder nephrogenic adenoma" EXACT [MONDO:patterns/location, NCIT:C7415] xref: DOID:7333 {source="MONDO:equivalentTo"} xref: MEDGEN:234976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7415 {source="MONDO:equivalentTo", source="DOID:7333"} @@ -77223,7 +77225,7 @@ intersection_of: disease_has_location UBERON:0001255 ! urinary bladder id: MONDO:0004191 name: nephrogenic adenoma def: "So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria." [NCIT:C7413] -synonym: "nephrogenic adenoma" EXACT [NCIT:C7413] +synonym: "nephrogenic adenoma" EXACT [DOID:7334, NCIT:C7413] xref: DOID:7334 {source="MONDO:equivalentTo"} xref: MEDGEN:452429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7413 {source="DOID:7334", source="MONDO:equivalentTo"} @@ -77237,20 +77239,20 @@ id: MONDO:0004192 name: urethra cancer def: "A malignant neoplasm involving the urethra" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of urethra" EXACT [DOID:734, MONDO:patterns/cancer] +synonym: "cancer of urethra" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the urethra" EXACT [NCIT:C7507] -synonym: "malignant neoplasm of urethra" EXACT [MONDO:patterns/cancer, NCIT:C7507] +synonym: "malignant neoplasm of urethra" EXACT [ICD10CM:C68.0, MONDO:patterns/cancer, NCIT:C7507] synonym: "malignant tumor of the urethra" EXACT [NCIT:C7507] -synonym: "malignant tumor of urethra" EXACT [DOID:734, NCIT:C7507] +synonym: "malignant tumor of urethra" EXACT [NCIT:C7507] synonym: "malignant tumour of the urethra" EXACT OMO:0003005 [] -synonym: "malignant tumour of urethra" EXACT OMO:0003005 [] +synonym: "malignant tumour of urethra" EXACT OMO:0003005 [DOID:734] synonym: "malignant urethra neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7507] synonym: "malignant urethra tumor" EXACT [NCIT:C7507] synonym: "malignant urethra tumour" EXACT OMO:0003005 [] synonym: "malignant urethral neoplasm" EXACT [DOID:734, NCIT:C7507] synonym: "malignant urethral tumor" EXACT [NCIT:C7507] synonym: "malignant urethral tumour" EXACT OMO:0003005 [] -synonym: "urethra cancer" EXACT [MONDO:patterns/location] +synonym: "urethra cancer" EXACT [DOID:734, MONDO:patterns/location] synonym: "urethral Ca" EXACT [DOID:734] synonym: "urethral cancer" RELATED [ONCOTREE:UCA] xref: DOID:734 {source="MONDO:equivalentTo"} @@ -77279,7 +77281,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood dysgerminoma" EXACT [NCIT:C6550] synonym: "childhood dysgerminoma of ovary" EXACT [] -synonym: "childhood ovarian dysgerminoma" EXACT [NCIT:C6550] +synonym: "childhood ovarian dysgerminoma" EXACT [DOID:7340, NCIT:C6550] synonym: "childhood ovarian germinomatous germ cell tumor" EXACT [NCIT:C6550] synonym: "childhood ovarian germinomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "dysgerminoma of ovary of childhood" EXACT [MONDO:patterns/childhood] @@ -77359,7 +77361,7 @@ name: testicular yolk sac tumor, solid pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli." [NCIT:C39925] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "solid pattern testicular yolk sac tumor" RELATED [DOID:7360] +synonym: "solid pattern testicular yolk sac tumor" RELATED [] synonym: "solid pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, solid pattern" EXACT [NCIT:C39925] xref: DOID:7360 {source="MONDO:equivalentTo"} @@ -77374,7 +77376,7 @@ name: vulvar keratinizing squamous cell carcinoma def: "A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls." [NCIT:C40284] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "vulvar keratinizing squamous cell carcinoma" EXACT [NCIT:C40284] +synonym: "vulvar keratinizing squamous cell carcinoma" EXACT [DOID:7363, NCIT:C40284] xref: DOID:7363 {source="MONDO:equivalentTo"} xref: MEDGEN:378346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40284 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7363"} @@ -77392,7 +77394,7 @@ def: "A term used by urologists to describe an infiltrating carcinoma of the bla synonym: "superficial bladder cancer" EXACT [NCIT:C27474] synonym: "superficial bladder carcinoma" EXACT [NCIT:C27474] synonym: "superficial urinary bladder cancer" EXACT [DOID:7371, NCIT:C27474] -synonym: "superficial urinary bladder carcinoma" EXACT [NCIT:C27474] +synonym: "superficial urinary bladder carcinoma" EXACT [DOID:7371, NCIT:C27474] xref: DOID:7371 {source="MONDO:equivalentTo"} xref: MEDGEN:234371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27474 {source="MONDO:equivalentTo", source="DOID:7371"} @@ -77404,8 +77406,8 @@ is_a: MONDO:0004986 {source="DOID:7371", source="NCIT:C27474"} ! urinary bladder id: MONDO:0004201 name: pituitary hypoplasia def: "Incomplete development of the pituitary gland." [NCIT:C27343] -synonym: "pituitary gland hypoplasia" RELATED [NCIT:C27343] -synonym: "pituitary hypoplasia" EXACT [NCIT:C27343] +synonym: "pituitary gland hypoplasia" RELATED [] +synonym: "pituitary hypoplasia" EXACT [DOID:7378, NCIT:C27343] xref: DOID:7378 {source="MONDO:equivalentTo"} xref: MEDGEN:215300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27343 {source="DOID:7378", source="NCIT:C27343", source="MONDO:equivalentTo"} @@ -77418,7 +77420,7 @@ name: adrenal medulla carcinoma def: "A carcinoma that arises from epithelial cells of the adrenal medulla" [https://orcid.org/0000-0002-6601-2165] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adrenal medulla carcinoma" EXACT [MONDO:patterns/location] +synonym: "adrenal medulla carcinoma" EXACT [DOID:7379, MONDO:patterns/location] synonym: "carcinoma of adrenal medulla" EXACT [MONDO:patterns/carcinoma] xref: DOID:7379 {source="MONDO:equivalentTo"} xref: NCIT:C9276 {source="DOID:7379", source="MONDO:directSiblingOf"} @@ -77447,18 +77449,18 @@ intersection_of: disease_has_location UBERON:0001334 ! female urethra id: MONDO:0004204 name: squamous cell skin papilloma def: "A squamous papilloma that involves the zone of skin." [MONDO:patterns/location] -synonym: "Dyskeratotic papilloma of skin" EXACT [NCIT:C4462] -synonym: "Dyskeratotic papilloma of the skin" EXACT [NCIT:C4462] -synonym: "Dyskeratotic skin papilloma" EXACT [NCIT:C4462] -synonym: "hyperkeratotic papilloma of skin" EXACT [NCIT:C4462] -synonym: "hyperkeratotic papilloma of the skin" EXACT [NCIT:C4462] -synonym: "hyperkeratotic skin papilloma" EXACT [NCIT:C4462] -synonym: "parakeratotic papilloma of skin" EXACT [NCIT:C4462] -synonym: "parakeratotic papilloma of the skin" EXACT [NCIT:C4462] -synonym: "parakeratotic skin papilloma" EXACT [DOID:7380, NCIT:C4462] -synonym: "squamous cell papilloma of skin" EXACT [NCIT:C4462] -synonym: "squamous cell papilloma of the skin" EXACT [NCIT:C4462] -synonym: "squamous cell skin papilloma" EXACT [NCIT:C4462] +synonym: "Dyskeratotic papilloma of skin" EXACT [] +synonym: "Dyskeratotic papilloma of the skin" EXACT [] +synonym: "Dyskeratotic skin papilloma" EXACT [] +synonym: "hyperkeratotic papilloma of skin" EXACT [] +synonym: "hyperkeratotic papilloma of the skin" EXACT [] +synonym: "hyperkeratotic skin papilloma" EXACT [] +synonym: "parakeratotic papilloma of skin" EXACT [] +synonym: "parakeratotic papilloma of the skin" EXACT [] +synonym: "parakeratotic skin papilloma" EXACT [DOID:7380] +synonym: "squamous cell papilloma of skin" EXACT [DOID:7380] +synonym: "squamous cell papilloma of the skin" EXACT [] +synonym: "squamous cell skin papilloma" EXACT [] synonym: "zone of skin squamous papilloma" EXACT [MONDO:patterns/location] xref: DOID:7380 {source="MONDO:equivalentTo"} xref: MEDGEN:83397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -77490,7 +77492,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "leiomyosarcoma of pulmonary vein" EXACT [NCIT:C5374] synonym: "leiomyosarcoma of the pulmonary vein" EXACT [DOID:7388, NCIT:C5374] -synonym: "pulmonary vein leiomyosarcoma" EXACT [MONDO:patterns/location] +synonym: "pulmonary vein leiomyosarcoma" EXACT [DOID:7388, MONDO:patterns/location, NCIT:C5374] xref: DOID:7388 {source="MONDO:equivalentTo"} xref: MEDGEN:235513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5374 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7388"} @@ -77509,7 +77511,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "leiomyosarcoma of pulmonary artery" EXACT [NCIT:C5373] synonym: "leiomyosarcoma of the pulmonary artery" EXACT [DOID:7389, NCIT:C5373] -synonym: "pulmonary artery leiomyosarcoma" EXACT [MONDO:patterns/location] +synonym: "pulmonary artery leiomyosarcoma" EXACT [DOID:7389, MONDO:patterns/location, NCIT:C5373] xref: DOID:7389 {source="MONDO:equivalentTo"} xref: MEDGEN:233372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5373 {source="DOID:7389", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -77542,15 +77544,15 @@ relationship: excluded_subClassOf MONDO:0004207 {source="DOID:7390", source="htt id: MONDO:0004209 name: cerebral primitive neuroectodermal tumor def: "A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres." [NCIT:P378] -synonym: "cerebral embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C4970] -synonym: "cerebral embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C4970] +synonym: "cerebral embryonal tumor, NOS" RELATED EXCLUDE [] +synonym: "cerebral embryonal tumor, not otherwise specified" RELATED EXCLUDE [] synonym: "cerebral hemisphere PNET" EXACT [NCIT:C4970] synonym: "cerebral hemisphere primitive neuroectodermal neoplasm" EXACT [NCIT:C4970] synonym: "cerebral hemisphere primitive neuroectodermal tumor" EXACT [NCIT:C4970] synonym: "cerebral hemisphere primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "cerebral PNET" EXACT [NCIT:C4970] synonym: "cerebral primitive neuroectodermal neoplasm" EXACT [NCIT:C4970] -synonym: "cerebral primitive neuroectodermal tumor" EXACT [NCIT:C4970] +synonym: "cerebral primitive neuroectodermal tumor" EXACT [DOID:7398, NCIT:C4970] synonym: "PNET of cerebral hemispheres" EXACT [NCIT:C4970] synonym: "PNET of cerebrum" EXACT [DOID:7398, NCIT:C4970] synonym: "PNET of the cerebral hemispheres" EXACT [NCIT:C4970] @@ -77603,7 +77605,7 @@ name: L-cell glucagon-like peptide-producing neuroendocrine tumor def: "A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27448] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "L-cell glucagon-like peptide producing tumor" RELATED [DOID:7402] +synonym: "L-cell glucagon-like peptide producing tumor" RELATED [] synonym: "L-cell glucagon-like peptide producing tumour" RELATED OMO:0003005 [] synonym: "L-cell glucagon-like peptide-producing NET" EXACT [NCIT:C27448] synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27448] @@ -77621,7 +77623,7 @@ name: vulvar keratoacanthoma-like carcinoma def: "A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor." [NCIT:C40288] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "vulvar squamous cell carcinoma, keratoacanthoma type" EXACT [NCIT:C40288] +synonym: "vulvar squamous cell carcinoma, keratoacanthoma type" EXACT [] xref: DOID:7408 {source="MONDO:equivalentTo"} xref: NCIT:C40288 {source="MONDO:equivalentObsolete", source="DOID:7408"} is_a: MONDO:0024609 {source="DOID:7408", source="NCIT:C40288"} ! vulvar squamous cell carcinoma @@ -77643,7 +77645,7 @@ disjoint_from: MONDO:0005056 ! keratinizing squamous cell carcinoma id: MONDO:0004214 name: ovarian endometrioid cystadenofibroma def: "A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma." [NCIT:C27288] -synonym: "ovarian endometrioid cystadenofibroma" EXACT [NCIT:C27288] +synonym: "ovarian endometrioid cystadenofibroma" EXACT [DOID:7411, NCIT:C27288] xref: DOID:7411 {source="MONDO:equivalentTo"} xref: MEDGEN:233272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27288 {source="DOID:7411", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -77683,7 +77685,7 @@ subset: gard_rare {source="GARD:19162", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:91352"} subset: rare -synonym: "germinoma" BROAD [NCIT:C8712] +synonym: "germinoma" BROAD [] synonym: "pineal germinoma" EXACT [NCIT:C8712] xref: DOID:7428 {source="MONDO:equivalentTo"} xref: GARD:19162 {source="MONDO:GARD"} @@ -77742,7 +77744,7 @@ synonym: "germ cell neoplasm of childhood brain" EXACT [NCIT:C5795] synonym: "germ cell neoplasm of paediatric brain" EXACT OMO:0003005 [] synonym: "germ cell neoplasm of pediatric brain" EXACT [NCIT:C5795] synonym: "germ cell neoplasm of the childhood brain" EXACT [NCIT:C5795] -synonym: "germ cell neoplasm of the paediatric brain" EXACT OMO:0003005 [] +synonym: "germ cell neoplasm of the paediatric brain" EXACT OMO:0003005 [DOID:7430] synonym: "germ cell neoplasm of the pediatric brain" EXACT [DOID:7430, NCIT:C5795] synonym: "germ cell tumor of childhood brain" EXACT [NCIT:C5795] synonym: "germ cell tumor of pediatric brain" EXACT [NCIT:C5795] @@ -77769,7 +77771,7 @@ name: polyvesicular vitelline pattern testicular yolk sac tumor def: "A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue." [NCIT:C39930] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "testicular yolk Sac tumor, polyvesicular vitelline pattern" RELATED [NCIT:C39930] +synonym: "testicular yolk Sac tumor, polyvesicular vitelline pattern" RELATED [] xref: DOID:7435 {source="MONDO:equivalentTo"} xref: MEDGEN:273638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39930 {source="DOID:7435", source="MONDO:equivalentTo", source="NCIT:C39930"} @@ -77781,7 +77783,7 @@ id: MONDO:0004220 name: endometrial endometrioid adenocarcinoma with spindled epithelial cells def: "A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells." [NCIT:C27850] synonym: "endometrial endometrioid adenocarcinoma with spindled epithelial cells" EXACT [NCIT:C27850] -synonym: "sarcomatoid uterine corpus endometrioid adenocarcinoma" EXACT [NCIT:C27850] +synonym: "sarcomatoid uterine corpus endometrioid adenocarcinoma" EXACT [DOID:7436, NCIT:C27850] xref: DOID:7436 {source="MONDO:equivalentTo"} xref: MEDGEN:234979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27850 {source="DOID:7436", source="NCIT:C27850", source="MONDO:equivalentTo"} @@ -77800,7 +77802,7 @@ synonym: "uterine corpus PEComa" EXACT [DOID:7437, NCIT:C40180] synonym: "uterine corpus perivascular epithelioid cell tumor" EXACT [NCIT:C40180] synonym: "uterine perivascular epithelioid cell tumor" RELATED [ONCOTREE:UPECOMA] synonym: "uterine perivascular epithelioid cell tumour" RELATED OMO:0003005 [] -synonym: "uterus perivascular epithelioid cell tumor" RELATED [DOID:7437] +synonym: "uterus perivascular epithelioid cell tumor" RELATED [] synonym: "uterus perivascular epithelioid cell tumour" RELATED OMO:0003005 [] xref: DOID:7437 {source="MONDO:equivalentTo"} xref: MEDGEN:276940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -77819,7 +77821,7 @@ def: "A malignant glandular epithelial neoplasm arising from the ovary. It is ch subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ovarian clear cell cystadenocarcinoma" EXACT [NCIT:C7980] +synonym: "ovarian clear cell cystadenocarcinoma" EXACT [DOID:7438, NCIT:C7980] xref: DOID:7438 {source="MONDO:equivalentTo"} xref: MEDGEN:76012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7980 {source="DOID:7438", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -77834,7 +77836,7 @@ id: MONDO:0004223 name: polyp of middle ear def: "A benign polypoid growth in the middle ear." [NCIT:P378] synonym: "middle Ear polyp" EXACT [NCIT:C6933] -synonym: "middle ear polyp" EXACT [MONDO:patterns/location] +synonym: "middle ear polyp" EXACT [MONDO:patterns/location, NCIT:C6933] synonym: "polyp - middle ear" EXACT [DOID:7439] synonym: "polyp of the middle ear" EXACT [DOID:7439, NCIT:C6933] xref: DOID:7439 {source="MONDO:equivalentTo"} @@ -77857,7 +77859,7 @@ id: MONDO:0004224 name: chronic metabolic polyneuropathy subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "chronic metabolic polyneuropathy" EXACT [NCIT:C35602] +synonym: "chronic metabolic polyneuropathy" EXACT [DOID:7441, NCIT:C35602] xref: DOID:7441 {source="MONDO:equivalentTo"} xref: MEDGEN:272482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35602 {source="MONDO:equivalentTo", source="DOID:7441"} @@ -77872,11 +77874,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "benign monoclonal gammopathy" EXACT [MONDO:0006675] synonym: "MGUS" EXACT ABBREVIATION [DOID:7442, NCIT:C3996, ONCOTREE:MGUS] -synonym: "monoclonal gammopathy of undetermined significance" EXACT [NCIT:C3996] +synonym: "monoclonal gammopathy of undetermined significance" EXACT [DOID:7442, NCIT:C3996] synonym: "monoclonal gammopathy Of undetermined significance (MGUS)" EXACT [NCIT:C3996] synonym: "monoclonal gammopathy of undetermined significance (MGUS)" EXACT [NCIT:C3996] -synonym: "monoclonal gammopathy of undetermined significance (morphologic abnormality)" EXACT [DOID:7442] -synonym: "monoclonal gammopathy of unknown significance" EXACT [NCIT:C3996] +synonym: "monoclonal gammopathy of undetermined significance (morphologic abnormality)" EXACT [] +synonym: "monoclonal gammopathy of unknown significance" EXACT [] synonym: "monoclonal gammopathy, benign" EXACT [MONDO:patterns/benign] xref: DOID:3404 {source="MONDO:obsolete", source="EFO:1000836"} xref: DOID:7442 {source="MONDO:equivalentTo"} @@ -77895,7 +77897,7 @@ relationship: excluded_subClassOf MONDO:0004959 {source="DOID:7442", source="EFO [Term] id: MONDO:0004226 name: diffuse intraductal papillomatosis -synonym: "diffuse intraductal papillomatosis" EXACT [DOID:7444, NCIT:C7364] +synonym: "diffuse intraductal papillomatosis" EXACT [NCIT:C7364] xref: DOID:7444 {source="MONDO:equivalentObsolete"} xref: MEDGEN:235123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7364 {source="DOID:7444", source="MONDO:equivalentTo"} @@ -77907,15 +77909,15 @@ is_a: MONDO:0021098 {source="https://orcid.org/0000-0002-6601-2165"} ! papilloma id: MONDO:0004227 name: epididymal adenomatoid tumor def: "A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis." [NCIT:C6382, NCIT:P378] -synonym: "adenomatoid neoplasm of epididymis" EXACT [NCIT:C6382] -synonym: "adenomatoid neoplasm of the epididymis" EXACT [DOID:745, NCIT:C6382] +synonym: "adenomatoid neoplasm of epididymis" EXACT [] +synonym: "adenomatoid neoplasm of the epididymis" EXACT [] synonym: "adenomatoid tumor of epididymis" EXACT [NCIT:C6382] synonym: "adenomatoid tumor of the epididymis" EXACT [NCIT:C6382] synonym: "adenomatoid tumour of epididymis" EXACT OMO:0003005 [] synonym: "adenomatoid tumour of the epididymis" EXACT OMO:0003005 [] -synonym: "benign epididymal epithelial mesothelioma" EXACT [DOID:745, NCIT:C6382] +synonym: "benign epididymal epithelial mesothelioma" EXACT [DOID:745] synonym: "epididymal adenomatoid tumor" EXACT [NCIT:C6382] -synonym: "epididymis adenomatoid tumor" EXACT [MONDO:patterns/location] +synonym: "epididymis adenomatoid tumor" EXACT [DOID:745, MONDO:patterns/location] synonym: "epididymis adenomatoid tumour" EXACT OMO:0003005 [] xref: DOID:745 {source="MONDO:equivalentTo"} xref: MEDGEN:232460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -77951,25 +77953,25 @@ is_a: MONDO:0006056 {source="DOID:7459", source="EFO:1001969", source="NCIT:C403 id: MONDO:0004230 name: adenomatoid tumor def: "A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis." [NCIT:C3762] -synonym: "adenomatoid tumor" EXACT [NCIT:C3762] -synonym: "adenomatoid tumor (morphologic abnormality)" EXACT [DOID:746] -synonym: "adenomatoid tumor NOS (morphologic abnormality)" EXACT [DOID:746] +synonym: "adenomatoid tumor" EXACT [DOID:746, NCIT:C3762] +synonym: "adenomatoid tumor (morphologic abnormality)" EXACT [] +synonym: "adenomatoid tumor NOS (morphologic abnormality)" EXACT [] synonym: "adenomatoid tumor, benign" EXACT [NCIT:C3762] synonym: "adenomatoid tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "adenomatoid tumour NOS (morphologic abnormality)" EXACT OMO:0003005 [] -synonym: "benign localised epithelial mesothelioma" EXACT OMO:0003005 [] +synonym: "benign localised epithelial mesothelioma" EXACT OMO:0003005 [DOID:746] synonym: "benign localized epithelial mesothelioma" EXACT [DOID:746, NCIT:C3762] -synonym: "benign mesothelial neoplasm" RELATED [NCIT:C3762] -synonym: "benign mesothelial tumor" RELATED [NCIT:C3762] +synonym: "benign mesothelial neoplasm" RELATED [] +synonym: "benign mesothelial tumor" RELATED [] synonym: "benign mesothelial tumour" RELATED OMO:0003005 [] -synonym: "benign mesothelioma" RELATED [NCIT:C3762] -synonym: "benign neoplasm of mesothelium" RELATED [NCIT:C3762] -synonym: "benign neoplasm of the mesothelium" RELATED [NCIT:C3762] -synonym: "benign tumor of mesothelium" RELATED [NCIT:C3762] -synonym: "benign tumor of the mesothelium" RELATED [NCIT:C3762] +synonym: "benign mesothelioma" RELATED [] +synonym: "benign neoplasm of mesothelium" RELATED [] +synonym: "benign neoplasm of the mesothelium" RELATED [] +synonym: "benign tumor of mesothelium" RELATED [] +synonym: "benign tumor of the mesothelium" RELATED [] synonym: "benign tumour of mesothelium" RELATED OMO:0003005 [] synonym: "benign tumour of the mesothelium" RELATED OMO:0003005 [] -synonym: "mesothelioma, benign" RELATED [NCIT:C3762] +synonym: "mesothelioma, benign" RELATED [] xref: DOID:746 {source="MONDO:equivalentTo"} xref: ICD10CM:D19.9 {source="DOID:746"} xref: ICDO:9050/0 {source="NCIT:C3762"} @@ -78045,23 +78047,23 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:512017"} subset: orphanet_rare {source="Orphanet:512017"} subset: rare -synonym: "chronic lymphoproliferative disorder of natural killer cells" RELATED [Orphanet:512017] +synonym: "chronic lymphoproliferative disorder of natural killer cells" RELATED [] synonym: "chronic lymphoproliferative disorder of NK-cells" EXACT [NCIT:C39591, Orphanet:512017] synonym: "chronic NK lymphocytosis" EXACT [Orphanet:512017] -synonym: "chronic NK-cell lymphocytosis" EXACT [Orphanet:512017] +synonym: "chronic NK-cell lymphocytosis" EXACT [DOID:7465, NCIT:C39591, Orphanet:512017] synonym: "chronic NK-large granular lymphocyte lymphoproliferative disorder" EXACT [NCIT:C39591] synonym: "chronic NK-LGL lymphoproliferative disorder" EXACT [NCIT:C39591] -synonym: "CLPD-NK" EXACT [NCIT:C39591, Orphanet:512017] +synonym: "CLPD-NK" EXACT ABBREVIATION [NCIT:C39591, Orphanet:512017] synonym: "CNKL" EXACT ABBREVIATION [Orphanet:512017] synonym: "indolent large granular NK-cell lymphoproliferative disorder" EXACT [NCIT:C39591] synonym: "indolent NK-cell lymphoproliferative disorder" EXACT [NCIT:C39591] synonym: "natural killer-cell large granular lymphocyte leukaemia" EXACT OMO:0003005 [] -synonym: "natural killer-cell large granular lymphocyte leukemia" EXACT [NCIT:C39591] +synonym: "natural killer-cell large granular lymphocyte leukemia" EXACT [] synonym: "NK-cell large granular lymphocyte lymphocytosis" EXACT [DOID:7465, NCIT:C39591] synonym: "NK-cell lineage granular lymphocyte proliferative disorder" EXACT [Orphanet:512017] synonym: "NK-LGL leukaemia" EXACT OMO:0003005 [] -synonym: "NK-LGL leukemia" EXACT [NCIT:C39591] -synonym: "NK-LGLL" EXACT [NCIT:C39591] +synonym: "NK-LGL leukemia" EXACT [] +synonym: "NK-LGLL" EXACT [] synonym: "NK-type lymphoproliferative disorder of granular lymphocytes" EXACT [NCIT:C39591] xref: DOID:7465 {source="MONDO:equivalentTo"} xref: GARD:22072 {source="MONDO:GARD"} @@ -78116,7 +78118,7 @@ synonym: "duodenal somatostatin producing tumour" EXACT OMO:0003005 [] synonym: "duodenal somatostatin-producing NET" EXACT [NCIT:C27407] synonym: "duodenal somatostatin-producing neuroendocrine tumor" EXACT [NCIT:C27407] synonym: "duodenal somatostatin-producing neuroendocrine tumour" EXACT OMO:0003005 [] -synonym: "duodenal somatostatinoma" EXACT [NCIT:C27407] +synonym: "duodenal somatostatinoma" EXACT [DOID:7479, NCIT:C27407] xref: DOID:7479 {source="MONDO:equivalentTo"} xref: MEDGEN:234205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27407 {source="DOID:7479", source="MONDO:equivalentTo"} @@ -78128,7 +78130,7 @@ relationship: excluded_subClassOf MONDO:0000920 {source="DOID:7479", source="htt id: MONDO:0004237 name: large cell carcinoma with rhabdoid phenotype def: "A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells." [NCIT:P378] -synonym: "large cell carcinoma with rhabdoid phenotype (morphologic abnormality)" EXACT [DOID:7480] +synonym: "large cell carcinoma with rhabdoid phenotype (morphologic abnormality)" EXACT [] synonym: "large cell lung carcinoma with rhabdoid phenotype" EXACT [DOID:7480, NCIT:C6876] synonym: "RLCLC" RELATED ABBREVIATION [ONCOTREE:RLCLC] xref: DOID:7480 {source="MONDO:equivalentTo"} @@ -78164,7 +78166,7 @@ name: cervical keratinizing squamous cell carcinoma def: "A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present." [NCIT:C40187] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cervical keratinizing squamous cell carcinoma" EXACT [NCIT:C40187] +synonym: "cervical keratinizing squamous cell carcinoma" EXACT [DOID:7483, NCIT:C40187] xref: DOID:7483 {source="MONDO:equivalentTo"} xref: MEDGEN:309255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40187 {source="MONDO:equivalentTo", source="DOID:7483", source="MONDO:exact-label-match"} @@ -78187,7 +78189,7 @@ synonym: "malignant tumour of the posterior urethra" EXACT OMO:0003005 [] synonym: "posterior urethra malignant neoplasm" EXACT [NCIT:C7640] synonym: "posterior urethra malignant tumor" EXACT [NCIT:C7640] synonym: "posterior urethra malignant tumour" EXACT OMO:0003005 [] -synonym: "posterior urethral cancer" EXACT [NCIT:C7640] +synonym: "posterior urethral cancer" EXACT [] synonym: "posterior urethral malignant neoplasm" EXACT [NCIT:C7640] synonym: "posterior urethral malignant tumor" EXACT [DOID:7488, NCIT:C7640] synonym: "posterior urethral malignant tumour" EXACT OMO:0003005 [] @@ -78209,9 +78211,9 @@ subset: orphanet_rare {source="Orphanet:97335"} subset: rare synonym: "aseptic necrosis of the tibial tubercle" EXACT [Orphanet:97335] synonym: "juvenile osteochondrosis of tibial tubercle" EXACT [DOID:7489] -synonym: "Osgood-Schlatter disease" EXACT [DOID:7489, MONDO:0019968] -synonym: "Osgood-Schlatter's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "osteochondritis of the tibial tubercle" EXACT [Orphanet:97335] +synonym: "Osgood-Schlatter disease" EXACT [DOID:7489, MONDO:0019968, Orphanet:97335] +synonym: "Osgood-Schlatter's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:7489, MONDO:LexicalVariant, NCIT:C34874] +synonym: "osteochondritis of the tibial tubercle" EXACT [] synonym: "osteochondritis of tibial tubercle" EXACT [DOID:7489] synonym: "Osteochondrosis of proximal tibia" EXACT [DOID:7489] synonym: "Osteochondrosis of the tibial tubercle" EXACT [Orphanet:97335] @@ -78266,7 +78268,7 @@ name: proximal-type epithelioid sarcoma def: "An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma." [NCIT:C27472] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "central epithelioid sarcoma" EXACT [NCIT:C27472] +synonym: "central epithelioid sarcoma" EXACT [DOID:7492, NCIT:C27472] synonym: "proximal-type epithelioid sarcoma" EXACT [NCIT:C27472] synonym: "PTES" RELATED ABBREVIATION [ONCOTREE:PTES] xref: DOID:7492 {source="MONDO:equivalentTo"} @@ -78284,9 +78286,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brain ependymal tumor" EXACT [MONDO:patterns/location] +synonym: "brain ependymal tumor" EXACT [MONDO:patterns/location, NCIT:C3861] synonym: "brain ependymal tumour" EXACT OMO:0003005 [] -synonym: "brain ependymoma" RELATED [DOID:7497] +synonym: "brain ependymoma" RELATED [] synonym: "ependymal tumor of brain" EXACT [DOID:7497, NCIT:C3861] synonym: "ependymoma of brain" EXACT [DOID:7497] xref: DOID:7497 {source="MONDO:equivalentTo"} @@ -78344,9 +78346,9 @@ name: pediatric infratentorial ependymoma def: "An ependymoma that arises from the infratentorial region of the brain and occurs during childhood." [NCIT:C9041] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "childhood infratentorial ependymoma" EXACT [NCIT:C9041] +synonym: "childhood infratentorial ependymoma" EXACT [DOID:7501, NCIT:C9041] synonym: "infratentorial ependymoma" EXACT [NCIT:C9041] -synonym: "pediatric infratentorial ependymoma" EXACT [NCIT:C9041] +synonym: "pediatric infratentorial ependymoma" EXACT [DOID:7501, NCIT:C9041] xref: DOID:7501 {source="MONDO:equivalentTo"} xref: MEDGEN:82949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9041 {source="DOID:7501", source="MONDO:equivalentTo"} @@ -78364,12 +78366,12 @@ def: "An ependymoma that arises from the supratentorial region of the brain and subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "childhood supratentorial ependymoma" EXACT [NCIT:C9043] -synonym: "paediatric cerebral ependymoma" EXACT OMO:0003005 [] -synonym: "paediatric supratentorial ependymoblastoma" EXACT OMO:0003005 [] -synonym: "pediatric cerebral ependymoma" EXACT [DOID:7502, NCIT:C6268] -synonym: "pediatric supratentorial ependymoblastoma" EXACT [DOID:7502, NCIT:C6772] -synonym: "supratentorial ependymoma" BROAD [NCIT:C9043] +synonym: "childhood supratentorial ependymoma" EXACT [DOID:7502] +synonym: "paediatric cerebral ependymoma" EXACT OMO:0003005 [DOID:7502] +synonym: "paediatric supratentorial ependymoblastoma" EXACT OMO:0003005 [DOID:7502] +synonym: "pediatric cerebral ependymoma" EXACT [DOID:7502] +synonym: "pediatric supratentorial ependymoblastoma" EXACT [DOID:7502] +synonym: "supratentorial ependymoma" BROAD [] xref: DOID:7502 {source="MONDO:equivalentTo"} xref: EFO:0008495 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:78854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -78387,7 +78389,7 @@ relationship: excluded_subClassOf MONDO:0002071 {source="DOID:7502", source="htt id: MONDO:0004250 name: extrahepatic bile duct papillary adenoma def: "An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern." [NCIT:C5849] -synonym: "extrahepatic bile duct papillary adenoma" EXACT [MONDO:patterns/location, NCIT:C5849] +synonym: "extrahepatic bile duct papillary adenoma" EXACT [DOID:7503, MONDO:patterns/location, NCIT:C5849] synonym: "papillary adenoma of extrahepatic bile duct" EXACT [NCIT:C5849] synonym: "papillary adenoma of the extrahepatic bile duct" EXACT [DOID:7503, NCIT:C5849] xref: DOID:7503 {source="MONDO:equivalentTo"} @@ -78406,7 +78408,7 @@ name: small intestine neoplasm def: "A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "neoplasm of small bowel" EXACT [NCIT:C4432] -synonym: "neoplasm of small intestine" EXACT [MONDO:patterns/neoplasm, NCIT:C4432] +synonym: "neoplasm of small intestine" EXACT [DOID:7505, MONDO:patterns/neoplasm, NCIT:C4432] synonym: "neoplasm of the small bowel" EXACT [NCIT:C4432] synonym: "neoplasm of the small intestine" EXACT [NCIT:C4432] synonym: "small bowel neoplasm" EXACT [NCIT:C4432] @@ -78463,10 +78465,10 @@ relationship: excluded_subClassOf MONDO:0000956 {source="DOID:7506", source="htt id: MONDO:0004253 name: intraductal breast papillomatosis def: "A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts." [NCIT:C5201] -synonym: "breast intraductal papillomatosis" RELATED [DOID:7511] -synonym: "intraductal breast papillomatosis" EXACT [NCIT:C5201] -synonym: "intraductal papillomatosis of breast" EXACT [NCIT:C5201] -synonym: "intraductal papillomatosis of the breast" EXACT [DOID:7511, NCIT:C5201] +synonym: "breast intraductal papillomatosis" RELATED [] +synonym: "intraductal breast papillomatosis" EXACT [] +synonym: "intraductal papillomatosis of breast" EXACT [] +synonym: "intraductal papillomatosis of the breast" EXACT [DOID:7511] xref: DOID:7511 {source="MONDO:equivalentTo"} xref: MEDGEN:235224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5201 {source="DOID:7511", source="MONDO:equivalentTo"} @@ -78478,7 +78480,7 @@ id: MONDO:0004254 name: focal intraductal papillomatosis synonym: "focal intraductal papillomatosis" EXACT [NCIT:C7365] synonym: "localised intraductal papillomatosis" RELATED OMO:0003005 [] -synonym: "localized intraductal papillomatosis" RELATED [NCIT:C7365] +synonym: "localized intraductal papillomatosis" RELATED [] xref: DOID:7512 {source="MONDO:equivalentObsolete"} xref: MEDGEN:272635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7365 {source="NCIT:C7365", source="DOID:7512", source="MONDO:equivalentTo"} @@ -78495,7 +78497,7 @@ synonym: "female adnexal tumor of probable Wolffian origin" RELATED [GARD:000868 synonym: "female adnexal tumour of probable Wolffian origin" RELATED OMO:0003005 [] synonym: "WAT" RELATED ABBREVIATION [GARD:0008680] synonym: "Wolffian adenoma" RELATED [GARD:0008680] -synonym: "Wolffian adnexal neoplasm" EXACT [NCIT:C40141] +synonym: "Wolffian adnexal neoplasm" EXACT [DOID:7514, NCIT:C40141] synonym: "Wolffian adnexal tumor" EXACT [NCIT:C40141] synonym: "Wolffian tumor" RELATED [GARD:0008680] synonym: "Wolffian tumour" RELATED OMO:0003005 [] @@ -78553,8 +78555,8 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0004258 name: female orgasmic disorder def: "A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse." [NCIT:C34958] -synonym: "female orgasmic disorder" EXACT [DOID:7518, NCIT:C34958] -synonym: "inhibited female orgasm" RELATED [DOID:7518] +synonym: "female orgasmic disorder" EXACT [DOID:7518, ICD10CM:F52.31, NCIT:C34958] +synonym: "inhibited female orgasm" RELATED [] xref: DOID:7518 {source="MONDO:equivalentTo"} xref: ICD10CM:F52.31 {source="MONDO:equivalentTo", source="DOID:7518"} xref: ICD9:302.73 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:7518"} @@ -78575,11 +78577,11 @@ id: MONDO:0004259 name: endocervical carcinoma def: "A carcinoma that arises from epithelial cells of the endocervix." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "carcinoma of endocervix" EXACT [DOID:7519, MONDO:patterns/carcinoma, NCIT:C28327] -synonym: "carcinoma of the endocervix" EXACT [DOID:7519, NCIT:C28327] -synonym: "endocervical adenocarcinoma" NARROW [NCIT:C28327] -synonym: "endocervical cancer" EXACT [NCIT:C28327] -synonym: "endocervical carcinoma" EXACT [NCIT:C28327] +synonym: "carcinoma of endocervix" EXACT [DOID:7519, MONDO:patterns/carcinoma] +synonym: "carcinoma of the endocervix" EXACT [DOID:7519] +synonym: "endocervical adenocarcinoma" NARROW [] +synonym: "endocervical cancer" EXACT [] +synonym: "endocervical carcinoma" EXACT [DOID:7519] synonym: "endocervix carcinoma" EXACT [MONDO:patterns/location] xref: DOID:7519 {source="MONDO:equivalentTo"} xref: MEDGEN:226966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -78615,7 +78617,7 @@ is_a: MONDO:0004247 {source="DOID:752", source="MESH:D010439"} ! peptic ulcer di id: MONDO:0004261 name: periductal breast myoepitheliosis def: "A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts." [NCIT:C40388] -synonym: "periductal breast myoepitheliosis" EXACT [NCIT:C40388] +synonym: "periductal breast myoepitheliosis" EXACT [DOID:7520, NCIT:C40388] xref: DOID:7520 {source="MONDO:equivalentTo"} xref: MEDGEN:274144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40388 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7520"} @@ -78626,7 +78628,7 @@ is_a: MONDO:0004262 {source="DOID:7520", source="NCIT:C40388"} ! breast myoepith id: MONDO:0004262 name: breast myoepitheliosis def: "A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts." [NCIT:C40385] -synonym: "breast myoepitheliosis" EXACT [NCIT:C40385] +synonym: "breast myoepitheliosis" EXACT [DOID:7521, NCIT:C40385] xref: DOID:7521 {source="MONDO:equivalentTo"} xref: MEDGEN:269362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40385 {source="DOID:7521", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -78640,10 +78642,10 @@ def: "An embryonal tumor with multilayered rosettes, C19MC-altered that arises f subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C6773] +synonym: "childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [DOID:7522, NCIT:C6773] synonym: "childhood infratentorial embryonal tumour with Multilayered Rosettes, C19MC-altered" EXACT OMO:0003005 [] -synonym: "childhood infratentorial ependymoblastoma" EXACT [NCIT:C6773] -synonym: "pediatric infratentorial ependymoblastoma" EXACT [NCIT:C6773] +synonym: "childhood infratentorial ependymoblastoma" EXACT [DOID:7522, NCIT:C6773] +synonym: "pediatric infratentorial ependymoblastoma" EXACT [DOID:7522, NCIT:C6773] xref: DOID:7522 {source="MONDO:equivalentTo"} xref: MEDGEN:272462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6773 {source="DOID:7522", source="MONDO:equivalentTo"} @@ -78660,9 +78662,9 @@ name: acute gonococcal endometritis synonym: "acute gonorrhea of uterus" EXACT [DOID:7527] synonym: "acute gonorrhoea of uterus" EXACT OMO:0003005 [] synonym: "gonococcal endometritis" EXACT [DOID:7527] -synonym: "gonococcal endometritis (acute)" EXACT [DOID:7527, ICD9CM:098.16] -synonym: "uterus - acute gonorrhea" EXACT [DOID:7527] -synonym: "uterus - acute gonorrhoea" EXACT OMO:0003005 [] +synonym: "gonococcal endometritis (acute)" EXACT [ICD9CM:098.16] +synonym: "uterus - acute gonorrhea" EXACT [] +synonym: "uterus - acute gonorrhoea" EXACT OMO:0003005 [DOID:7527] xref: DOID:7527 {source="MONDO:equivalentTo"} xref: ICD9:098.16 {source="MONDO:equivalentTo", source="DOID:7527", source="MONDO:i2s"} xref: MEDGEN:509198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -78711,7 +78713,7 @@ is_a: MONDO:0002652 {source="DOID:7531", source="NCIT:C5609/inferred"} ! anus ad id: MONDO:0004267 name: squamous papillomatosis def: "A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site." [NCIT:C9009] -synonym: "squamous papillomatosis" EXACT [NCIT:C9009] +synonym: "squamous papillomatosis" EXACT [DOID:7532, NCIT:C9009] xref: DOID:7532 {source="MONDO:equivalentTo"} xref: ICDO:8060/0 {source="NCIT:C9009"} xref: MEDGEN:235130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -78723,7 +78725,7 @@ is_a: MONDO:0021098 {source="NCIT:C9009"} ! papillomatosis [Term] id: MONDO:0004268 name: obsolete subareolar duct papillomatosis -synonym: "subareolar duct papillomatosis" EXACT [DOID:7533, NCIT:C9008] +synonym: "subareolar duct papillomatosis" EXACT [] xref: DOID:7533 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C9008 {source="DOID:7533", source="MONDO:otherHierarchy"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} @@ -78735,7 +78737,7 @@ consider: MONDO:0021301 id: MONDO:0004269 name: breast cystic hypersecretory carcinoma synonym: "cystic hypersecretory carcinoma of the breast" RELATED [DOID:7537] -synonym: "cystic hypersecretory duct carcinoma of the breast" EXACT [DOID:7537, NCIT:C6869] +synonym: "cystic hypersecretory duct carcinoma of the breast" EXACT [DOID:7537] xref: DOID:7537 {source="MONDO:equivalentTo"} is_a: MONDO:0003208 {source="DOID:7537"} ! breast secretory carcinoma @@ -78744,7 +78746,7 @@ id: MONDO:0004270 name: breast ductal adenoma def: "A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor." [NCIT:C40384] subset: otar {source="MONDO:OTAR"} -synonym: "breast ductal adenoma" EXACT [NCIT:C40384] +synonym: "breast ductal adenoma" EXACT [DOID:7538, NCIT:C40384] synonym: "ductal adenoma" EXACT [NCIT:C40384] xref: DOID:7538 {source="MONDO:equivalentTo"} xref: MEDGEN:307308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -78756,8 +78758,8 @@ is_a: MONDO:0002058 {source="DOID:7538", source="NCIT:C40384"} ! breast adenoma id: MONDO:0004271 name: pregnancy adenoma def: "A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes." [NCIT:P378] -synonym: "Lactating adenoma" EXACT [NCIT:C9473] -synonym: "Lactating adenoma (morphologic abnormality)" EXACT [DOID:7539] +synonym: "Lactating adenoma" EXACT [DOID:7539, NCIT:C9473] +synonym: "Lactating adenoma (morphologic abnormality)" EXACT [] xref: DOID:7539 {source="MONDO:equivalentTo"} xref: ICDO:8204/0 {source="NCIT:C9473"} xref: MEDGEN:226830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -78772,10 +78774,10 @@ name: urinary bladder tuberculosis def: "A tuberculosis that involves the urinary bladder." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "bladder tuberculosis" RELATED [DOID:754] -synonym: "bladder tuberculous" EXACT [DOID:754] +synonym: "bladder tuberculosis" RELATED [] +synonym: "bladder tuberculous" EXACT [] synonym: "tuberculosis of bladder" EXACT [DOID:754] -synonym: "tuberculosis of bladder, unspecified examination" EXACT [DOID:754, ICD9CM:016.10] +synonym: "tuberculosis of bladder, unspecified examination" EXACT [ICD9CM:016.10] synonym: "tuberculous cystitis" EXACT [DOID:754] synonym: "urinary bladder tuberculosis" EXACT [MONDO:patterns/location] xref: DOID:754 {source="MONDO:equivalentTo"} @@ -78797,7 +78799,7 @@ id: MONDO:0004273 name: breast apocrine adenoma def: "A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia." [NCIT:C40383] synonym: "apocrine adenoma of breast" EXACT [MONDO:design_pattern] -synonym: "breast apocrine adenoma" EXACT [MONDO:patterns/location, NCIT:C40383] +synonym: "breast apocrine adenoma" EXACT [DOID:7540, icd11.foundation:636674012, MONDO:patterns/location, NCIT:C40383] xref: DOID:7540 {source="MONDO:equivalentTo"} xref: icd11.foundation:636674012 {source="MONDO:equivalentTo"} xref: MEDGEN:235590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -78830,7 +78832,7 @@ def: "A sarcomatous transformation of pre-existing Paget disease of the bone. Os subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "osteosarcoma arising in bone Paget disease" EXACT [DOID:7542] -synonym: "osteosarcoma arising in bone Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C6469] +synonym: "osteosarcoma arising in bone Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:7542, MONDO:LexicalVariant, NCIT:C6469] synonym: "osteosarcoma arising in osseous Paget's disease" EXACT [DOID:7542, NCIT:C6469] synonym: "osteosarcoma arising in osteitis deformans" EXACT [NCIT:C6469] synonym: "osteosarcoma arising in Paget disease of bone" EXACT [NCIT:C6469] @@ -78850,8 +78852,8 @@ id: MONDO:0004276 name: ceruminoma def: "A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a gray mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm." [NCIT:C6088] synonym: "adenoma, ceruminous gland, benign" EXACT [NCIT:C6088] -synonym: "ceruminous adenoma" EXACT [NCIT:C6088] -synonym: "ceruminous adenoma (morphologic abnormality)" EXACT [DOID:7549] +synonym: "ceruminous adenoma" EXACT [DOID:7549, NCIT:C6088] +synonym: "ceruminous adenoma (morphologic abnormality)" EXACT [] synonym: "ceruminous adenoma of external auditory canal" EXACT [NCIT:C6088] synonym: "ceruminous adenoma of the external auditory canal" EXACT [NCIT:C6088] synonym: "external auditory canal ceruminous adenoma" EXACT [NCIT:C6088] @@ -78913,9 +78915,9 @@ def: "An invasive transitional cell carcinoma of the bladder that exhibits spind subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "infiltrating bladder urothelial carcinoma sarcomatoid variant" EXACT [MONDO:0006253, NCIT:C39824] -synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements" NARROW [DOID:7553] -synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements" NARROW [DOID:7553] +synonym: "infiltrating bladder urothelial carcinoma sarcomatoid variant" EXACT [DOID:7553, MONDO:0006253, NCIT:C39824] +synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements" NARROW [] +synonym: "infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements" NARROW [] synonym: "sarcomatoid carcinoma of the urinary bladder" BROAD [ONCOTREE:SCB] xref: DOID:7553 {source="MONDO:equivalentTo"} xref: EFO:1000303 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -78968,7 +78970,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "eccrine porocarcinoma of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "mammalian vulva eccrine porocarcinoma" EXACT [MONDO:patterns/location] -synonym: "vulvar eccrine porocarcinoma" EXACT [NCIT:C40306] +synonym: "vulvar eccrine porocarcinoma" EXACT [DOID:7565, NCIT:C40306] xref: DOID:7565 {source="MONDO:equivalentTo"} xref: MEDGEN:275616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40306 {source="DOID:7565", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -78991,7 +78993,7 @@ name: vulvar clear cell hidradenocarcinoma def: "A vulvar sweat gland carcinoma characterized by the presence of clear cells." [NCIT:C40307] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "vulvar clear cell hidradenocarcinoma" EXACT [NCIT:C40307] +synonym: "vulvar clear cell hidradenocarcinoma" EXACT [DOID:7567, NCIT:C40307] xref: DOID:7567 {source="MONDO:equivalentTo"} xref: MEDGEN:275614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40307 {source="DOID:7567", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -79015,16 +79017,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:424058"} subset: orphanet_rare {source="Orphanet:424058"} subset: rare -synonym: "intraductal papillary mucinous carcinoma of pancreas" EXACT [MONDO:0018524] -synonym: "intraductal papillary-colloid carcinoma of pancreas" RELATED [NCIT:C5725] -synonym: "intraductal papillary-colloid carcinoma of the pancreas" RELATED [NCIT:C5725] -synonym: "intraductal papillary-colloidal carcinoma of pancreas" RELATED [NCIT:C5725] -synonym: "intraductal papillary-colloidal carcinoma of the pancreas" RELATED [NCIT:C5725] +synonym: "intraductal papillary mucinous carcinoma of pancreas" EXACT [MONDO:0018524, Orphanet:424058] +synonym: "intraductal papillary-colloid carcinoma of pancreas" RELATED [] +synonym: "intraductal papillary-colloid carcinoma of the pancreas" RELATED [] +synonym: "intraductal papillary-colloidal carcinoma of pancreas" RELATED [] +synonym: "intraductal papillary-colloidal carcinoma of the pancreas" RELATED [] synonym: "intraductal papillary-mucinous carcinoma of pancreas" EXACT [DOID:7574, NCIT:C5725] -synonym: "intraductal papillary-mucinous carcinoma of the pancreas" RELATED [NCIT:C5725] +synonym: "intraductal papillary-mucinous carcinoma of the pancreas" RELATED [] synonym: "pancreatic intraductal papillary mucinous carcinoma" EXACT [Orphanet:424058] -synonym: "pancreatic intraductal papillary-colloid carcinoma" RELATED [NCIT:C5725] -synonym: "pancreatic intraductal papillary-colloidal carcinoma" RELATED [NCIT:C5725] +synonym: "pancreatic intraductal papillary-colloid carcinoma" RELATED [] +synonym: "pancreatic intraductal papillary-colloidal carcinoma" RELATED [] synonym: "pancreatic intraductal papillary-mucinous carcinoma" EXACT [NCIT:C5725] xref: DOID:7574 {source="MONDO:equivalentTo"} xref: GARD:21779 {source="MONDO:GARD"} @@ -79042,8 +79044,8 @@ id: MONDO:0004286 name: pancreatic intraductal papillary-mucinous neoplasm def: "A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus." [NCIT:C38342] synonym: "intraductal papillary mucinous neoplasm" RELATED [ONCOTREE:IPMN] -synonym: "IPMN" EXACT ABBREVIATION [NCIT:C38342] -synonym: "pancreatic intraductal papillary-mucinous neoplasm" EXACT [NCIT:C38342] +synonym: "IPMN" EXACT ABBREVIATION [] +synonym: "pancreatic intraductal papillary-mucinous neoplasm" EXACT [DOID:7575, NCIT:C38342] synonym: "pancreatic intraductal papillary-mucinous tumor" EXACT [NCIT:C38342] synonym: "pancreatic intraductal papillary-mucinous tumour" EXACT OMO:0003005 [] synonym: "pancreatic IPMN" EXACT [NCIT:C38342] @@ -79058,7 +79060,7 @@ is_a: MONDO:0002116 {source="DOID:7575"} ! malignant exocrine pancreas neoplasm id: MONDO:0004287 name: pancreatic foamy gland adenocarcinoma def: "A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm." [NCIT:C37256] -synonym: "pancreatic foamy gland adenocarcinoma" EXACT [NCIT:C37256] +synonym: "pancreatic foamy gland adenocarcinoma" EXACT [DOID:7577, NCIT:C37256] xref: DOID:7577 {source="MONDO:equivalentTo"} xref: MEDGEN:235450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C37256 {source="DOID:7577", source="NCIT:C37256", source="MONDO:equivalentTo"} @@ -79069,7 +79071,7 @@ is_a: MONDO:0005184 {source="NCIT:C37256"} ! pancreatic ductal adenocarcinoma id: MONDO:0004288 name: scirrhous breast carcinoma def: "An infiltrating ductal breast carcinoma associated with stromal fibrosis." [NCIT:C7362] -synonym: "breast scirrhous carcinoma" RELATED [DOID:7578] +synonym: "breast scirrhous carcinoma" RELATED [] synonym: "infiltrating carcinoma of breast with fibrotic Stroma" EXACT [DOID:7578, NCIT:C7362] synonym: "infiltrating carcinoma of the breast with fibrotic Stroma" EXACT [NCIT:C7362] synonym: "scirrhous breast carcinoma" EXACT [NCIT:C7362] @@ -79092,8 +79094,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "glottic verrucous carcinoma" EXACT [DOID:7583, NCIT:C8189] -synonym: "glottis verrucous carcinoma" EXACT [MONDO:patterns/location, NCIT:C8189] -synonym: "verrucous carcinoma of glottis" EXACT [DOID:7583, NCIT:C8189] +synonym: "glottis verrucous carcinoma" EXACT [DOID:7583, MONDO:patterns/location, NCIT:C8189] +synonym: "verrucous carcinoma of glottis" EXACT [NCIT:C8189] synonym: "verrucous carcinoma of the glottis" EXACT [NCIT:C8189] xref: DOID:7583 {source="MONDO:equivalentTo"} xref: MEDGEN:83631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -79111,7 +79113,7 @@ def: "An exophytic, slow growing, well differentiated and non-metastasizing squa subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "subglottic verrucous carcinoma" EXACT [NCIT:C8190] -synonym: "subglottis verrucous carcinoma" EXACT [MONDO:patterns/location] +synonym: "subglottis verrucous carcinoma" EXACT [DOID:7584, MONDO:patterns/location, NCIT:C8190] synonym: "verrucous carcinoma of subglottis" EXACT [DOID:7584, NCIT:C8190] synonym: "verrucous carcinoma of the subglottis" RELATED [DOID:7584] xref: DOID:7584 {source="MONDO:equivalentTo"} @@ -79137,7 +79139,7 @@ synonym: "squamous cell carcinoma of the subglottis" EXACT [NCIT:C8187] synonym: "subglottic epidermoid carcinoma" EXACT [NCIT:C8187] synonym: "subglottic squamous cell carcinoma" EXACT [NCIT:C8187] synonym: "subglottis epidermoid carcinoma" EXACT [NCIT:C8187] -synonym: "subglottis squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C8187] +synonym: "subglottis squamous cell carcinoma" EXACT [DOID:7585, MONDO:patterns/location, NCIT:C8187] xref: DOID:7585 {source="MONDO:equivalentTo"} xref: MEDGEN:124720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8187 {source="MONDO:equivalentTo", source="DOID:7585"} @@ -79155,9 +79157,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "supraglottic part of larynx verrucous carcinoma" EXACT [MONDO:patterns/location] synonym: "supraglottic verrucous carcinoma" EXACT [NCIT:C8191] -synonym: "supraglottis verrucous carcinoma" EXACT [NCIT:C8191] +synonym: "supraglottis verrucous carcinoma" EXACT [DOID:7586, NCIT:C8191] synonym: "verrucous carcinoma of supraglottis" EXACT [DOID:7586, NCIT:C8191] -synonym: "verrucous carcinoma of the supraglottis" EXACT [DOID:7586, NCIT:C8191] +synonym: "verrucous carcinoma of the supraglottis" EXACT [NCIT:C8191] xref: DOID:7586 {source="MONDO:equivalentTo"} xref: MEDGEN:76098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8191 {source="MONDO:equivalentTo", source="DOID:7586"} @@ -79182,7 +79184,7 @@ synonym: "supraglottic epidermoid carcinoma" EXACT [NCIT:C4945] synonym: "supraglottic part of larynx squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "supraglottic squamous cell carcinoma" EXACT [NCIT:C4945] synonym: "supraglottis epidermoid carcinoma" EXACT [NCIT:C4945] -synonym: "supraglottis squamous cell carcinoma" EXACT [NCIT:C4945] +synonym: "supraglottis squamous cell carcinoma" EXACT [DOID:7587, NCIT:C4945] xref: DOID:7587 {source="MONDO:equivalentTo"} xref: MEDGEN:152890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4945 {source="DOID:7587", source="MONDO:equivalentTo"} @@ -79198,7 +79200,7 @@ name: gestational ovarian choriocarcinoma def: "A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present." [NCIT:C40442] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "gestational ovarian choriocarcinoma" EXACT [NCIT:C40442] +synonym: "gestational ovarian choriocarcinoma" EXACT [DOID:7591, NCIT:C40442] xref: DOID:7591 {source="MONDO:equivalentTo"} xref: MEDGEN:274586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40442 {source="MONDO:equivalentTo", source="DOID:7591", source="MONDO:exact-label-match"} @@ -79214,7 +79216,7 @@ id: MONDO:0004295 name: asbestos-related lung carcinoma def: "A carcinoma arising in the lung due to exposure to asbestos." [NCIT:C27925] synonym: "asbestos-related lung cancer" EXACT [NCIT:C27925] -synonym: "asbestos-related lung carcinoma" EXACT [NCIT:C27925] +synonym: "asbestos-related lung carcinoma" EXACT [DOID:7596, NCIT:C27925] xref: DOID:7596 {source="MONDO:equivalentTo"} xref: MEDGEN:231080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27925 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7596"} @@ -79229,7 +79231,7 @@ name: cervical lymphoepithelioma-like carcinoma def: "A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate." [NCIT:C40193] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cervical lymphoepithelioma-like carcinoma" EXACT [NCIT:C40193] +synonym: "cervical lymphoepithelioma-like carcinoma" EXACT [DOID:7598, NCIT:C40193] xref: DOID:7598 {source="MONDO:equivalentTo"} xref: MEDGEN:308946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40193 {source="DOID:7598", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -79248,7 +79250,7 @@ synonym: "lymphoepithelial cancer of Thymus" EXACT [NCIT:C7998] synonym: "lymphoepithelial Thymus cancer" EXACT [NCIT:C7998] synonym: "lymphoepithelioma-like carcinoma of the Thymus" EXACT [DOID:7599, NCIT:C7998] synonym: "lymphoepithelioma-like carcinoma of Thymus" EXACT [NCIT:C7998] -synonym: "lymphoepithelioma-like thymic carcinoma" EXACT [NCIT:C7998] +synonym: "lymphoepithelioma-like thymic carcinoma" EXACT [DOID:7599, NCIT:C7998] synonym: "lymphoepithelioma-like Thymus carcinoma" EXACT [NCIT:C7998] synonym: "malignant lymphoepithelial thymoma" EXACT [NCIT:C7998] synonym: "thymic lymphoepithelioma-like carcinoma" EXACT [NCIT:C7998] @@ -79270,7 +79272,7 @@ synonym: "disease or disorder of stomach" EXACT [] synonym: "disorder of stomach" EXACT [MONDO:patterns/location_top] synonym: "gastric disease" RELATED [DOID:76] synonym: "gastropathy" EXACT [DOID:76] -synonym: "stomach disease" EXACT [MONDO:patterns/location] +synonym: "stomach disease" EXACT [DOID:76, MONDO:patterns/location] synonym: "stomach disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "stomach disorder" EXACT [DOID:76, NCIT:C26886] xref: DOID:76 {source="MONDO:equivalentTo"} @@ -79296,7 +79298,7 @@ id: MONDO:0004299 name: infiltrating bladder lymphoepithelioma-like carcinoma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "infiltrating bladder lymphoepithelioma-like carcinoma" EXACT [MONDO:0006252, NCIT:C39821] +synonym: "infiltrating bladder lymphoepithelioma-like carcinoma" EXACT [DOID:7600, MONDO:0006252, NCIT:C39821] xref: DOID:7600 {source="MONDO:equivalentTo"} xref: MEDGEN:268571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39821 {source="DOID:7600", source="MONDO:equivalentTo", source="EFO:1000302", source="MONDO:exact-label-match"} @@ -79319,10 +79321,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fibroblastic osteogenic sarcoma" EXACT [NCIT:C4020] -synonym: "fibroblastic osteosarcoma" EXACT [NCIT:C4020] -synonym: "fibroblastic osteosarcoma (morphologic abnormality)" EXACT [DOID:7603] +synonym: "fibroblastic osteosarcoma" EXACT [DOID:7603, NCIT:C4020] +synonym: "fibroblastic osteosarcoma (morphologic abnormality)" EXACT [] synonym: "fibrosarcomatous osteogenic sarcoma" EXACT [DOID:7603, NCIT:C4020] -synonym: "fibrosarcomatous osteosarcoma" EXACT [NCIT:C4020] +synonym: "fibrosarcomatous osteosarcoma" EXACT [DOID:7603, NCIT:C4020] synonym: "FIOS" RELATED ABBREVIATION [ONCOTREE:FIOS] xref: DOID:7603 {source="MONDO:equivalentTo"} xref: ICDO:9182/3 {source="NCIT:C4020"} @@ -79337,7 +79339,7 @@ is_a: MONDO:0002631 {source="DOID:7603", source="NCIT:C4020"} ! conventional ost id: MONDO:0004302 name: chief cell adenoma def: "A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei." [NCIT:P378] -synonym: "chief cell adenoma" EXACT [NCIT:C4154] +synonym: "chief cell adenoma" EXACT [DOID:7607, NCIT:C4154] synonym: "chief cell adenoma of parathyroid" EXACT [NCIT:C4154] synonym: "chief cell adenoma of parathyroid gland" EXACT [DOID:7607, NCIT:C4154] synonym: "chief cell adenoma of the parathyroid" EXACT [NCIT:C4154] @@ -79365,7 +79367,7 @@ synonym: "clear cell adenoma of the parathyroid gland" EXACT [NCIT:C7993] synonym: "parathyroid clear cell adenoma" EXACT [NCIT:C7993] synonym: "parathyroid gland clear cell adenoma" EXACT [NCIT:C7993] synonym: "parathyroid gland transitional clear cell adenoma" EXACT [NCIT:C7993] -synonym: "parathyroid transitional clear cell adenoma" EXACT [NCIT:C7993] +synonym: "parathyroid transitional clear cell adenoma" EXACT [DOID:7609, NCIT:C7993] synonym: "transitional clear cell adenoma of parathyroid" EXACT [NCIT:C7993] synonym: "transitional clear cell adenoma of parathyroid gland" EXACT [NCIT:C7993] synonym: "transitional clear cell adenoma of the parathyroid" EXACT [NCIT:C7993] @@ -79383,7 +79385,7 @@ intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland id: MONDO:0004304 name: mixed cell type adenoma of parathyroid def: "A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells)." [NCIT:P378] -synonym: "mixed cell type adenoma of parathyroid" EXACT [NCIT:C7994] +synonym: "mixed cell type adenoma of parathyroid" EXACT [DOID:7610, NCIT:C7994] synonym: "mixed cell type adenoma of parathyroid gland" EXACT [NCIT:C7994] synonym: "mixed cell type adenoma of the parathyroid" EXACT [NCIT:C7994] synonym: "mixed cell type adenoma of the parathyroid gland" EXACT [DOID:7610, NCIT:C7994] @@ -79403,7 +79405,7 @@ id: MONDO:0004305 name: parathyroid oncocytic adenoma def: "A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm." [NCIT:P378] synonym: "parathyroid gland oncocytic adenoma" EXACT [NCIT:C27393] -synonym: "parathyroid oncocytic adenoma" EXACT [NCIT:C27393] +synonym: "parathyroid oncocytic adenoma" EXACT [DOID:7611, NCIT:C27393] xref: DOID:7611 {source="MONDO:equivalentTo"} xref: MEDGEN:233845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27393 {source="DOID:7611", source="MONDO:equivalentTo"} @@ -79421,7 +79423,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "childhood conventional osteosarcoma" EXACT [NCIT:C6590] -synonym: "childhood intracortical osteosarcoma" EXACT [NCIT:C6590] +synonym: "childhood intracortical osteosarcoma" EXACT [DOID:7612, NCIT:C6590] xref: DOID:7612 {source="MONDO:equivalentTo"} xref: MEDGEN:232350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6590 {source="DOID:7612", source="MONDO:equivalentTo"} @@ -79436,11 +79438,11 @@ def: "A rare condition characterized by diffuse spread of sarcoma cells througho subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "meningeal cluster sarcomatosis" EXACT [MONDO:patterns/location] -synonym: "meningeal sarcomatosis" EXACT [NCIT:C4334] -synonym: "meningeal sarcomatosis (morphologic abnormality)" EXACT [DOID:7613] +synonym: "meningeal sarcomatosis" EXACT [DOID:7613, NCIT:C4334] +synonym: "meningeal sarcomatosis (morphologic abnormality)" EXACT [] synonym: "meninges sarcomatosis" EXACT [NCIT:C4334] synonym: "sarcomatosis of meninges" EXACT [DOID:7613, NCIT:C4334] -synonym: "sarcomatosis of the meninges" EXACT [NCIT:C4334] +synonym: "sarcomatosis of the meninges" EXACT [DOID:7613, NCIT:C4334] xref: DOID:7613 {source="MONDO:equivalentTo"} xref: ICDO:9539/3 {source="NCIT:C4334"} xref: MEDGEN:83175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -79460,7 +79462,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "meningeal cluster sarcoma" EXACT [MONDO:patterns/location] synonym: "meningeal sarcoma" EXACT [DOID:7614, NCIT:C4073] -synonym: "meninges sarcoma" EXACT [NCIT:C4073] +synonym: "meninges sarcoma" EXACT [DOID:7614, NCIT:C4073] synonym: "sarcoma of meningeal cluster" EXACT [MONDO:patterns/sarcoma] synonym: "sarcoma of meninges" EXACT [DOID:7614, NCIT:C4073] synonym: "sarcoma of the meninges" EXACT [NCIT:C4073] @@ -79480,9 +79482,9 @@ relationship: excluded_subClassOf MONDO:0016642 {source="DOID:7614", source="htt id: MONDO:0004309 name: sarcomatosis def: "The occurrence of several sarcomas in different anatomic locations." [NCIT:C4243] -synonym: "sarcomatosis" EXACT [NCIT:C4243] -synonym: "sarcomatosis (morphologic abnormality)" EXACT [DOID:7615] -synonym: "sarcomatosis NOS (morphologic abnormality)" EXACT [DOID:7615] +synonym: "sarcomatosis" EXACT [DOID:7615, NCIT:C4243] +synonym: "sarcomatosis (morphologic abnormality)" EXACT [] +synonym: "sarcomatosis NOS (morphologic abnormality)" EXACT [] xref: DOID:7615 {source="MONDO:equivalentTo"} xref: ICDO:8800/9 {source="NCIT:C4243"} xref: MEDGEN:83152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -79498,10 +79500,10 @@ name: adult embryonal tumor with multilayered rosettes, c19mc-altered def: "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults." [NCIT:C8290] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult embryonal tumor with multilayered rosettes, C19MC-altered" EXACT [NCIT:C8290] +synonym: "adult embryonal tumor with multilayered rosettes, C19MC-altered" EXACT [DOID:7631, NCIT:C8290] synonym: "adult embryonal tumour with multilayered rosettes, C19MC-altered" EXACT OMO:0003005 [] -synonym: "adult ependymoblastoma" EXACT [NCIT:C8290] -synonym: "embryonal tumor with multilayered rosettes, C19MC-altered" BROAD [NCIT:C8290] +synonym: "adult ependymoblastoma" EXACT [DOID:7631, NCIT:C8290] +synonym: "embryonal tumor with multilayered rosettes, C19MC-altered" BROAD [] synonym: "embryonal tumour with multilayered rosettes, C19MC-altered" BROAD OMO:0003005 [] synonym: "ependymoblastoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:7631 {source="MONDO:equivalentTo"} @@ -79518,8 +79520,8 @@ name: carcinoma of Cowper glands def: "A carcinoma that involves the bulbo-urethral gland." [MONDO:patterns/location] synonym: "bulbo-urethral gland carcinoma" EXACT [MONDO:patterns/location] synonym: "carcinoma of bulbo-urethral gland" EXACT [MONDO:patterns/carcinoma] -synonym: "carcinoma of Cowper glands" EXACT [NCIT:C39864] -synonym: "Cowper gland carcinoma" RELATED [DOID:7632] +synonym: "carcinoma of Cowper glands" EXACT [] +synonym: "Cowper gland carcinoma" RELATED [] xref: DOID:7632 {source="MONDO:equivalentTo"} xref: MEDGEN:273091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39864 {source="DOID:7632", source="MONDO:equivalentTo"} @@ -79575,11 +79577,11 @@ synonym: "malignant cutaneous granular cell tumour" EXACT OMO:0003005 [] synonym: "malignant granular cell neoplasm of skin" EXACT [NCIT:C5614] synonym: "malignant granular cell neoplasm of the skin" EXACT [NCIT:C5614] synonym: "malignant granular cell skin neoplasm" EXACT [DOID:7639, NCIT:C5614] -synonym: "malignant granular cell skin tumor" EXACT [NCIT:C5614] -synonym: "malignant granular cell skin tumour" EXACT OMO:0003005 [] +synonym: "malignant granular cell skin tumor" EXACT [DOID:7639, NCIT:C5614] +synonym: "malignant granular cell skin tumour" EXACT OMO:0003005 [DOID:7639] synonym: "malignant granular cell tumor of skin" EXACT [DOID:7639, NCIT:C5614] synonym: "malignant granular cell tumor of the skin" EXACT [NCIT:C5614] -synonym: "malignant granular cell tumour of skin" EXACT OMO:0003005 [] +synonym: "malignant granular cell tumour of skin" EXACT OMO:0003005 [DOID:7639] synonym: "malignant granular cell tumour of the skin" EXACT OMO:0003005 [] xref: DOID:7639 {source="MONDO:equivalentTo"} xref: MEDGEN:233658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -79599,7 +79601,7 @@ def: "An intrahepatic cholangiocarcinoma that arises from the canals of Hering." subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cholangiocarcinoma of intralobular bile duct" EXACT [MONDO:design_pattern] -synonym: "cholangiolocellular carcinoma" EXACT [NCIT:C41617] +synonym: "cholangiolocellular carcinoma" EXACT [DOID:7642, NCIT:C41617] synonym: "CLC" EXACT ABBREVIATION [NCIT:C41617] synonym: "intralobular bile duct cholangiocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:7642 {source="MONDO:equivalentTo"} @@ -79614,7 +79616,7 @@ intersection_of: disease_has_location UBERON:0001282 ! intralobular bile duct id: MONDO:0004316 name: acantholytic squamous cell skin carcinoma def: "A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis." [NCIT:P378] -synonym: "acantholytic squamous cell carcinoma of skin" RELATED [DOID:7643] +synonym: "acantholytic squamous cell carcinoma of skin" RELATED [] synonym: "acantholytic squamous cell carcinoma of the skin" EXACT [NCIT:C4460] synonym: "acantholytic squamous cell skin carcinoma" EXACT [DOID:7643, NCIT:C4460] xref: DOID:7643 {source="MONDO:equivalentTo"} @@ -79647,7 +79649,7 @@ name: pulmonary type ovarian small cell carcinoma def: "An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung." [NCIT:C40440] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ovarian small cell carcinoma, pulmonary type" EXACT [NCIT:C40440] +synonym: "ovarian small cell carcinoma, pulmonary type" EXACT [] xref: DOID:7650 {source="MONDO:equivalentTo"} xref: MEDGEN:309517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40440 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7650"} @@ -79674,10 +79676,10 @@ id: MONDO:0004320 name: adult infiltrating astrocytic neoplasm subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult infiltrating astrocytic neoplasm" EXACT [NCIT:C8289] +synonym: "adult infiltrating astrocytic neoplasm" EXACT [DOID:7656, NCIT:C8289] synonym: "adult infiltrating astrocytic tumor" EXACT [DOID:7656, NCIT:C8289] synonym: "adult infiltrating astrocytic tumour" EXACT OMO:0003005 [] -synonym: "adult infiltrating astrocytoma" NARROW [DOID:7656, MTH:NOCODE] +synonym: "adult infiltrating astrocytoma" NARROW [MTH:NOCODE] xref: DOID:7656 {source="MONDO:equivalentTo"} xref: MEDGEN:79278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8289 {source="DOID:7656", source="MONDO:equivalentTo"} @@ -79689,7 +79691,7 @@ id: MONDO:0004321 name: endometrial mixed adenocarcinoma def: "An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor." [NCIT:C40153] subset: otar {source="MONDO:OTAR"} -synonym: "endometrial mixed adenocarcinoma" EXACT [NCIT:C40153] +synonym: "endometrial mixed adenocarcinoma" EXACT [DOID:7664, icd11.foundation:575106861] xref: DOID:7664 {source="MONDO:equivalentTo"} xref: icd11.foundation:575106861 {source="MONDO:equivalentTo"} xref: MEDGEN:1670192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -79794,9 +79796,9 @@ name: sphenoid sinus Schneiderian papilloma def: "A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6838] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Schneiderian papilloma of sphenoid sinus" RELATED [NCIT:C6838] +synonym: "Schneiderian papilloma of sphenoid sinus" RELATED [] synonym: "Schneiderian papilloma of the sphenoid sinus" EXACT [DOID:7679, NCIT:C6838] -synonym: "sphenoid sinus Schneiderian papilloma" EXACT [NCIT:C6838] +synonym: "sphenoid sinus Schneiderian papilloma" EXACT [DOID:7679, NCIT:C6838] xref: DOID:7679 {source="MONDO:equivalentTo"} xref: MEDGEN:277659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6838 {source="DOID:7679", source="MONDO:equivalentTo", source="NCIT:C6838"} @@ -79812,9 +79814,9 @@ def: "An adenocarcinoma that arises from the maxillary sinus. It is classified a subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "adenocarcinoma of maxillary sinus" RELATED [DOID:7684, NCIT:C6240] +synonym: "adenocarcinoma of maxillary sinus" RELATED [DOID:7684] synonym: "adenocarcinoma of the maxillary sinus" EXACT [DOID:7684, NCIT:C6240] -synonym: "maxillary sinus adenocarcinoma" EXACT [NCIT:C6240] +synonym: "maxillary sinus adenocarcinoma" EXACT [DOID:7684, NCIT:C6240] xref: DOID:7684 {source="MONDO:equivalentTo"} xref: MEDGEN:233167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6240 {source="MONDO:equivalentTo", source="DOID:7684"} @@ -79836,7 +79838,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia" EXACT [NCIT:C41251] synonym: "pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia" EXACT [NCIT:C41251] -synonym: "pancreatic non-invasive intraductal papillary-mucinous carcinoma" EXACT [NCIT:C41251] +synonym: "pancreatic non-invasive intraductal papillary-mucinous carcinoma" EXACT [DOID:7685, NCIT:C41251] xref: DOID:7685 {source="MONDO:equivalentTo"} xref: ICDO:8453/2 {source="NCIT:C41251"} xref: MEDGEN:275330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -79854,7 +79856,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "leptomeningeal sarcoma" EXACT [DOID:7689, NCIT:C8312] -synonym: "leptomeninges sarcoma" RELATED [DOID:7689] +synonym: "leptomeninges sarcoma" RELATED [] synonym: "leptomeninx sarcoma" EXACT [MONDO:patterns/location] synonym: "sarcoma of leptomeninges" EXACT [DOID:7689, NCIT:C8312] synonym: "sarcoma of leptomeninx" EXACT [MONDO:patterns/sarcoma] @@ -79877,7 +79879,7 @@ name: bladder urachal adenocarcinoma def: "A adenocarcinoma that involves the urachus." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "adenocarcinoma of the urachus" RELATED [GARD:0010186] -synonym: "bladder urachal adenocarcinoma" EXACT [NCIT:C39843] +synonym: "bladder urachal adenocarcinoma" EXACT [DOID:7694, NCIT:C39843] synonym: "urachal adenocarcinoma" RELATED [ONCOTREE:UA] synonym: "urachus adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:7694 {source="MONDO:equivalentTo"} @@ -79929,7 +79931,7 @@ name: pancreatic ACTH-producing neuroendocrine tumor def: "A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor." [NCIT:C27466] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "pancreatic ACTH hormone producing tumor" RELATED [DOID:7697] +synonym: "pancreatic ACTH hormone producing tumor" RELATED [] synonym: "pancreatic ACTH hormone producing tumour" RELATED OMO:0003005 [] synonym: "pancreatic ACTH producing NET" EXACT [NCIT:C27466] synonym: "pancreatic ACTH producing neuroendocrine tumor" EXACT [NCIT:C27466] @@ -79938,7 +79940,7 @@ synonym: "pancreatic ACTH producing tumor" EXACT [NCIT:C27466] synonym: "pancreatic ACTH producing tumour" EXACT OMO:0003005 [] synonym: "pancreatic ACTH-producing neuroendocrine tumor" EXACT [NCIT:C27466] synonym: "pancreatic adrenocorticotropic hormone producing tumor" EXACT [DOID:7697, NCIT:C27466] -synonym: "pancreatic adrenocorticotropic hormone producing tumour" EXACT OMO:0003005 [] +synonym: "pancreatic adrenocorticotropic hormone producing tumour" EXACT OMO:0003005 [DOID:7697] xref: DOID:7697 {source="MONDO:equivalentTo"} xref: ICDO:8158/1 {source="NCIT:C27466"} xref: MEDGEN:233302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -79967,9 +79969,9 @@ synonym: "non-functional pancreatic neuroendocrine tumor" EXACT [NCIT:C45837] synonym: "non-functioning endocrine pancreatic tumors" RELATED [GARD:0004002] synonym: "non-functioning endocrine pancreatic tumours" RELATED OMO:0003005 [] synonym: "non-functioning EPTs" RELATED [GARD:0004002] -synonym: "non-functioning neuroendocrine tumor of pancreas" RELATED [Orphanet:506075] +synonym: "non-functioning neuroendocrine tumor of pancreas" RELATED [] synonym: "non-functioning neuroendocrine tumour of pancreas" RELATED OMO:0003005 [] -synonym: "non-functioning pancreatic endocrine tumor" EXACT [NCIT:C45837] +synonym: "non-functioning pancreatic endocrine tumor" EXACT [DOID:7698, NCIT:C45837] synonym: "non-functioning pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "non-functioning pancreatic NET" EXACT [NCIT:C45837, Orphanet:506075] synonym: "non-functioning pancreatic neuroendocrine tumor" EXACT [NCIT:C45837, Orphanet:506075] @@ -80023,7 +80025,7 @@ synonym: "gastroenterological system disorder" EXACT [https://orcid.org/0000-000 synonym: "gastroenteropathy" EXACT [DOID:77] synonym: "gastrointestinal disease" EXACT [DOID:77] synonym: "gastrointestinal disorder" EXACT [DOID:77, NCIT:C2990] -synonym: "gastrointestinal system disease" EXACT [NCIT:C2990] +synonym: "gastrointestinal system disease" EXACT [DOID:77, NCIT:C2990] synonym: "gastrointestinal system disorder" EXACT [NCIT:C2990] synonym: "git disease" EXACT [DOID:77] synonym: "stomach or intestinal disorder" EXACT [NCIT:C2990] @@ -80053,7 +80055,7 @@ id: MONDO:0004336 name: rectal signet ring cell adenocarcinoma def: "An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population." [NCIT:C9168] synonym: "rectal signet Ring cell adenocarcinoma" EXACT [NCIT:C9168] -synonym: "rectum signet ring adenocarcinoma" RELATED [DOID:7707] +synonym: "rectum signet ring adenocarcinoma" RELATED [] synonym: "rectum signet ring cell carcinoma" EXACT [MONDO:patterns/location] synonym: "signet Ring adenocarcinoma of rectum" EXACT [NCIT:C9168] synonym: "signet Ring adenocarcinoma of the rectum" EXACT [NCIT:C9168] @@ -80080,7 +80082,7 @@ synonym: "Paget disease of the anal margin" EXACT [NCIT:C7476] synonym: "Paget's disease of the anal margin" EXACT [NCIT:C7476] synonym: "perianal skin mammary Paget's disease" EXACT [MONDO:patterns/location] synonym: "perianal skin Paget disease" EXACT [DOID:7708, MONDO:patterns/location] -synonym: "perianal skin Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C7476] +synonym: "perianal skin Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:7708, MONDO:LexicalVariant, NCIT:C7476] xref: DOID:7708 {source="MONDO:equivalentTo"} xref: MEDGEN:231372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7476 {source="MONDO:equivalentTo", source="DOID:7708"} @@ -80096,7 +80098,7 @@ name: retinal cell cancer synonym: "cancer of retinal cell" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of retinal cell" EXACT [MONDO:patterns/cancer] synonym: "malignant retinal cell neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "retinal cell cancer" EXACT [MONDO:patterns/location] +synonym: "retinal cell cancer" EXACT [DOID:771, MONDO:patterns/location] xref: DOID:771 {source="MONDO:equivalentTo"} xref: NCIT:C7061 {source="MONDO:relatedTo", source="DOID:771"} is_a: MONDO:0003072 {source="DOID:771", source="MONDO:Redundant"} ! retinal cancer @@ -80125,7 +80127,7 @@ intersection_of: disease_has_location UBERON:0035298 ! tuberculum sellae id: MONDO:0004340 name: mixed ductal-endocrine carcinoma of pancreas def: "A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites." [NCIT:P378] -synonym: "mixed ductal-endocrine carcinoma" RELATED [DOID:7716] +synonym: "mixed ductal-endocrine carcinoma" RELATED [] synonym: "mixed ductal-endocrine carcinoma of the pancreas" EXACT [NCIT:C6879] synonym: "mixed ductal-neuroendocrine carcinoma of the pancreas" EXACT [NCIT:C6879] xref: DOID:7716 {source="MONDO:equivalentTo"} @@ -80140,7 +80142,7 @@ is_a: MONDO:0005184 {source="DOID:7716"} ! pancreatic ductal adenocarcinoma id: MONDO:0004341 name: colloid carcinoma of the pancreas def: "An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei." [NCIT:C37214] -synonym: "colloid carcinoma of the pancreas" EXACT [NCIT:C37214] +synonym: "colloid carcinoma of the pancreas" EXACT [DOID:7717, NCIT:C37214] synonym: "mucinous Noncystic carcinoma" EXACT [NCIT:C37214] synonym: "pancreatic mucinous Noncystic carcinoma" EXACT [NCIT:C37214] xref: DOID:7717 {source="MONDO:equivalentTo"} @@ -80162,8 +80164,8 @@ name: pancreatic acinar cell cystadenocarcinoma def: "A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course." [NCIT:C5727] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "acinar cell cystadenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5727] -synonym: "acinar cell cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:7729] +synonym: "acinar cell cystadenocarcinoma" EXACT [DOID:7729, MONDO:patterns/location, NCIT:C5727] +synonym: "acinar cell cystadenocarcinoma (morphologic abnormality)" EXACT [] synonym: "acinar cell cystadenocarcinoma of pancreas" EXACT [NCIT:C5727] synonym: "acinar cell cystadenocarcinoma of the pancreas" EXACT [NCIT:C5727] synonym: "pancreatic acinar cell cystadenocarcinoma" EXACT [DOID:7729, NCIT:C5727] @@ -80188,7 +80190,7 @@ comment: Editor note: check SFT/hemangiopericytoma/spindle cell tumor subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "malignant childhood hemangiopericytoma" EXACT [NCIT:C8090] -synonym: "malignant hemangiopericytoma" BROAD [NCIT:C8090] +synonym: "malignant hemangiopericytoma" BROAD [] synonym: "malignant paediatric hemangiopericytoma" EXACT OMO:0003005 [] synonym: "malignant pediatric hemangiopericytoma" EXACT [DOID:7731, NCIT:C8090] xref: DOID:7731 {source="MONDO:equivalentTo"} @@ -80211,7 +80213,7 @@ synonym: "childhood malignant neurilemmoma" EXACT [NCIT:C8094] synonym: "childhood malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C8094] synonym: "childhood malignant peripheral nerve sheath tumor" EXACT [NCIT:C8094] synonym: "childhood malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] -synonym: "childhood malignant schwannoma" EXACT [NCIT:C8094] +synonym: "childhood malignant schwannoma" EXACT [DOID:7732, NCIT:C8094] synonym: "childhood malignant tumor of peripheral nerve sheath" EXACT [NCIT:C8094] synonym: "childhood malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C8094] synonym: "childhood malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 [] @@ -80219,7 +80221,7 @@ synonym: "childhood malignant tumour of the peripheral nerve sheath" EXACT OMO:0 synonym: "childhood MPNST" EXACT [NCIT:C8094] synonym: "childhood neurofibrosarcoma" EXACT [NCIT:C8094] synonym: "childhood neurogenic sarcoma" EXACT [NCIT:C8094] -synonym: "malignant peripheral nerve sheath tumor" BROAD [NCIT:C8094] +synonym: "malignant peripheral nerve sheath tumor" BROAD [] synonym: "malignant peripheral nerve sheath tumour" BROAD OMO:0003005 [] synonym: "paediatric malignant neoplasm of peripheral nerve sheath" EXACT OMO:0003005 [] synonym: "paediatric malignant neoplasm of the peripheral nerve sheath" EXACT OMO:0003005 [] @@ -80252,7 +80254,7 @@ name: signet ring cell intrahepatic cholangiocarcinoma def: "An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells." [NCIT:C41619] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "signet Ring cell intrahepatic cholangiocarcinoma" EXACT [NCIT:C41619] +synonym: "signet Ring cell intrahepatic cholangiocarcinoma" EXACT [DOID:7733, NCIT:C41619] xref: DOID:7733 {source="MONDO:equivalentTo"} xref: MEDGEN:276815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C41619 {source="DOID:7733", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -80288,10 +80290,10 @@ name: retina lymphoma def: "A lymphoma that involves the retina." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "lymphoma of retina" EXACT [NCIT:C4365] +synonym: "lymphoma of retina" EXACT [DOID:774, NCIT:C4365] synonym: "lymphoma of the retina" EXACT [NCIT:C4365] synonym: "primary retinal lymphoma" EXACT [NCIT:C4365] -synonym: "retina lymphoma" EXACT [MONDO:patterns/location] +synonym: "retina lymphoma" EXACT [DOID:774, MONDO:patterns/location] synonym: "retinal lymphoma" EXACT [DOID:774, NCIT:C4365] xref: DOID:774 {source="MONDO:equivalentTo"} xref: ICD9:198.4 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -80312,9 +80314,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood extraocular retinoblastoma" EXACT [DOID:7747, NCIT:C9048] synonym: "childhood metastatic retinoblastoma" EXACT [NCIT:C9048] -synonym: "extraocular retinoblastoma" BROAD [NCIT:C9048] +synonym: "extraocular retinoblastoma" BROAD [] synonym: "extraocular retinoblastoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "pediatric extraocular retinoblastoma" EXACT [MONDO:patterns/childhood, NCIT:C9048] +synonym: "pediatric extraocular retinoblastoma" EXACT [DOID:7747, MONDO:patterns/childhood, NCIT:C9048] xref: DOID:7747 {source="MONDO:equivalentTo"} xref: MEDGEN:230837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9048 {source="MONDO:equivalentTo", source="DOID:7747"} @@ -80334,10 +80336,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:279904"} subset: orphanet_rare {source="Orphanet:279904"} subset: rare -synonym: "intraocular lymphoma" EXACT [NCIT:C9184] -synonym: "PIOL" EXACT ABBREVIATION [Orphanet:279904] -synonym: "primary intraocular lymphoma" EXACT [DOID:775, NCIT:C9184] -synonym: "primary intraocular non-Hodgkin's lymphoma" EXACT [Orphanet:279904] +synonym: "intraocular lymphoma" EXACT [DOID:775, NCIT:C9184] +synonym: "PIOL" EXACT ABBREVIATION [NCIT:C9184, Orphanet:279904] +synonym: "primary intraocular lymphoma" EXACT [DOID:775, NCIT:C9184, Orphanet:279904] +synonym: "primary intraocular non-Hodgkin's lymphoma" EXACT [] xref: DOID:775 {source="MONDO:equivalentTo"} xref: GARD:21063 {source="MONDO:GARD"} xref: ICD10CM:C85\,7 {source="Orphanet:279904"} @@ -80358,8 +80360,8 @@ name: adult brain ependymoma def: "An ependymoma of the brain occurring in adults." [NCIT:C9372] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult brain ependymoma" EXACT [NCIT:C9372] -synonym: "brain ependymoma" BROAD [NCIT:C9372] +synonym: "adult brain ependymoma" EXACT [DOID:7750, NCIT:C9372] +synonym: "brain ependymoma" BROAD [] xref: DOID:7750 {source="MONDO:equivalentTo"} xref: MEDGEN:231033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9372 {source="MONDO:equivalentTo", source="DOID:7750"} @@ -80372,7 +80374,7 @@ name: extrahepatic biliary papillomatosis def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts." [NCIT:P378] synonym: "extrahepatic bile duct papillary neoplasm" EXACT [NCIT:C7124] synonym: "extrahepatic bile duct papillomatosis" EXACT [NCIT:C7124] -synonym: "extrahepatic biliary papillomatosis" EXACT [NCIT:C7124] +synonym: "extrahepatic biliary papillomatosis" EXACT [DOID:7752, NCIT:C7124] xref: DOID:7752 {source="MONDO:equivalentTo"} xref: MEDGEN:232484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7124 {source="DOID:7752", source="MONDO:equivalentTo"} @@ -80401,11 +80403,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "childhood leukaemia (disease)" EXACT OMO:0003005 [] -synonym: "childhood leukemia" EXACT [NCIT:C4989] +synonym: "childhood leukemia" EXACT [DOID:7757, NCIT:C4989] synonym: "childhood leukemia (disease)" EXACT [] synonym: "leukaemia" BROAD OMO:0003005 [] synonym: "leukaemia (disease) of childhood" EXACT OMO:0003005 [] -synonym: "leukemia" BROAD [NCIT:C4989] +synonym: "leukemia" BROAD [] synonym: "leukemia (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "paediatric leukaemia (disease)" EXACT OMO:0003005 [] synonym: "pediatric leukemia (disease)" EXACT [MONDO:patterns/childhood] @@ -80425,7 +80427,7 @@ name: childhood multilocular cystic kidney neoplasm def: "A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present." [NCIT:P378] synonym: "benign multilocular cystic renal tumor" RELATED [DOID:7762] synonym: "benign multilocular cystic renal tumour" RELATED OMO:0003005 [] -synonym: "childhood multilocular cystic kidney neoplasm" EXACT [NCIT:C6566] +synonym: "childhood multilocular cystic kidney neoplasm" EXACT [DOID:7762, NCIT:C6566] synonym: "childhood multilocular cystic kidney tumor" EXACT [NCIT:C6566] synonym: "childhood multilocular cystic kidney tumour" EXACT OMO:0003005 [] synonym: "childhood multilocular cystic renal neoplasm" EXACT [NCIT:C6566] @@ -80453,7 +80455,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "cancer of supraglottis" EXACT [NCIT:C5973] synonym: "cancer of the supraglottis" EXACT [NCIT:C5973] synonym: "carcinoma of supraglottic part of larynx" EXACT [MONDO:patterns/carcinoma] -synonym: "carcinoma of supraglottis" EXACT [NCIT:C5973] +synonym: "carcinoma of supraglottis" EXACT [DOID:7763, NCIT:C5973] synonym: "carcinoma of the supraglottis" EXACT [NCIT:C5973] synonym: "supraglottic cancer" EXACT [NCIT:C5973] synonym: "supraglottic carcinoma" EXACT [DOID:7763, NCIT:C5973] @@ -80474,14 +80476,14 @@ intersection_of: disease_has_location UBERON:0036263 ! supraglottic part of lary id: MONDO:0004358 name: subglottis carcinoma def: "A carcinoma of the larynx that arises from the subglottic area." [NCIT:P378] -synonym: "cancer of subglottis" BROAD [NCIT:C5972] -synonym: "cancer of the subglottis" BROAD [NCIT:C5972] -synonym: "carcinoma of subglottis" EXACT [MONDO:patterns/carcinoma, NCIT:C5972] +synonym: "cancer of subglottis" BROAD [] +synonym: "cancer of the subglottis" BROAD [] +synonym: "carcinoma of subglottis" EXACT [DOID:7764, MONDO:patterns/carcinoma, NCIT:C5972] synonym: "carcinoma of the subglottis" EXACT [NCIT:C5972] -synonym: "subglottic cancer" BROAD [NCIT:C5972] +synonym: "subglottic cancer" BROAD [] synonym: "subglottic carcinoma" EXACT [DOID:7764, NCIT:C5972] -synonym: "subglottic throat cancer" BROAD [NCIT:C5972] -synonym: "subglottis carcinoma" EXACT [MONDO:patterns/location, NCIT:C5972] +synonym: "subglottic throat cancer" BROAD [] +synonym: "subglottis carcinoma" EXACT [DOID:7764, MONDO:patterns/location, NCIT:C5972] xref: DOID:7764 {source="MONDO:equivalentTo"} xref: MEDGEN:226968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5972 {source="DOID:7764", source="MONDO:equivalentTo"} @@ -80518,7 +80520,7 @@ def: "An osteosarcoma arising from the breast tissue." [NCIT:C5189] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "breast extraskeletal osteosarcoma" EXACT [NCIT:C5189] -synonym: "breast osteosarcoma" EXACT [NCIT:C5189] +synonym: "breast osteosarcoma" EXACT [DOID:7787, NCIT:C5189] synonym: "breast osteosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "osteogenic breast sarcoma" EXACT [NCIT:C5189] synonym: "osteogenic sarcoma of breast" EXACT [DOID:7787, NCIT:C5189] @@ -80541,8 +80543,8 @@ name: adult spinal cord ependymoma def: "An ependymoma of the spinal cord occurring in adults." [NCIT:C27399] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult spinal cord ependymoma" EXACT [NCIT:C27399] -synonym: "spinal cord ependymoma" BROAD [NCIT:C27399] +synonym: "adult spinal cord ependymoma" EXACT [DOID:7788, NCIT:C27399] +synonym: "spinal cord ependymoma" BROAD [] synonym: "spinal cord ependymoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:7788 {source="MONDO:equivalentTo"} xref: MEDGEN:231359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -80565,7 +80567,7 @@ def: "A rare spinal tumor which is highly malignant and tends to be locally inva subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult spinal cord glioblastoma" EXACT [DOID:7806, NCIT:C27183] -synonym: "adult spinal cord glioblastoma multiforme" EXACT [DOID:7806] +synonym: "adult spinal cord glioblastoma multiforme" EXACT [DOID:7806, NCIT:C27183] synonym: "glioblastoma multiforme of spinal cord" EXACT [DOID:7806] xref: DOID:7806 {source="MONDO:equivalentTo"} xref: MEDGEN:107849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -80584,7 +80586,7 @@ id: MONDO:0004364 name: choroid necrotic melanoma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "choroid necrotic melanoma" EXACT [NCIT:C6865] +synonym: "choroid necrotic melanoma" EXACT [DOID:7807, NCIT:C6865] synonym: "necrotic choroid melanoma" EXACT [DOID:7807, NCIT:C6865] synonym: "necrotic melanoma of choroid" EXACT [NCIT:C6865] synonym: "necrotic melanoma of the choroid" EXACT [NCIT:C6865] @@ -80615,7 +80617,7 @@ name: mixed astrocytoma-ependymoma-oligodendroglioma def: "A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components." [NCIT:C8272] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mixed astrocytoma-ependymoma-oligodendroglioma" EXACT [NCIT:C8272] +synonym: "mixed astrocytoma-ependymoma-oligodendroglioma" EXACT [DOID:7817, NCIT:C8272] xref: DOID:7817 {source="MONDO:equivalentTo"} xref: MEDGEN:79184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8272 {source="MONDO:equivalentTo", source="DOID:7817", source="MONDO:exact-label-match"} @@ -80680,8 +80682,8 @@ def: "A clear cell meningioma arising in multiple areas of the spinal cord chara subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "multifocal clear cell meningioma of spine" EXACT [DOID:7824, NCIT:C5287] -synonym: "multifocal clear cell meningioma of the spine" RELATED [NCIT:C5287] -synonym: "spinal multifocal clear cell meningioma" EXACT [NCIT:C5287] +synonym: "multifocal clear cell meningioma of the spine" RELATED [] +synonym: "spinal multifocal clear cell meningioma" EXACT [DOID:7824, NCIT:C5287] xref: DOID:7824 {source="MONDO:equivalentTo"} xref: MEDGEN:277661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5287 {source="NCIT:C5287", source="MONDO:equivalentTo", source="DOID:7824"} @@ -80693,7 +80695,7 @@ id: MONDO:0004372 name: chronic toxic polyneuropathy subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "chronic toxic polyneuropathy" EXACT [NCIT:C35603] +synonym: "chronic toxic polyneuropathy" EXACT [DOID:7825, NCIT:C35603] xref: DOID:7825 {source="MONDO:equivalentTo"} xref: MEDGEN:234149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35603 {source="DOID:7825", source="MONDO:equivalentTo"} @@ -80706,8 +80708,8 @@ name: adult papillary meningioma def: "A papillary meningioma occurring in adults." [NCIT:C8293] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult papillary meningioma" EXACT [NCIT:C8293] -synonym: "papillary meningioma" BROAD [NCIT:C8293] +synonym: "adult papillary meningioma" EXACT [DOID:7826, NCIT:C8293] +synonym: "papillary meningioma" BROAD [] synonym: "papillary meningioma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:7826 {source="MONDO:equivalentTo"} xref: MEDGEN:76256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -80724,10 +80726,10 @@ name: adult extraskeletal osteosarcoma def: "An osteosarcoma arising from the soft tissue, and occurring in adults." [NCIT:C7925] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult extraosseous osteosarcoma" EXACT [NCIT:C7925] +synonym: "adult extraosseous osteosarcoma" EXACT [DOID:7827, NCIT:C7925] synonym: "adult extraskeletal osteosarcoma" EXACT [NCIT:C7925] synonym: "extraosseous osteosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] -synonym: "extraskeletal osteosarcoma" BROAD [NCIT:C7925] +synonym: "extraskeletal osteosarcoma" BROAD [] xref: DOID:7827 {source="MONDO:equivalentTo"} xref: MEDGEN:83016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7925 {source="MONDO:equivalentTo", source="DOID:7827"} @@ -80741,16 +80743,16 @@ intersection_of: has_characteristic HP:0003581 ! Adult onset id: MONDO:0004375 name: end stage renal failure def: "Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min." [NCIT:C9439] -synonym: "chronic kidney disease, stage 5" EXACT [NCIT:C9439] -synonym: "disease (ESRD), end stage renal" EXACT [NCIT:C9439] +synonym: "chronic kidney disease, stage 5" EXACT [ICD10CM:N18.5, NCIT:C9439] +synonym: "disease (ESRD), end stage renal" EXACT [] synonym: "end stage kidney disease" EXACT [NCIT:C9439] synonym: "end stage kidney failure" EXACT [NCIT:C9439] -synonym: "end stage renal disease" EXACT [DOID:783] -synonym: "end stage renal disease (ESRD)" EXACT [NCIT:C9439] +synonym: "end stage renal disease" EXACT [DOID:783, NCIT:C9439] +synonym: "end stage renal disease (ESRD)" EXACT [] synonym: "ESRD" EXACT ABBREVIATION [NCIT:C9439] -synonym: "ESRD, end stage renal disease" EXACT [NCIT:C9439] -synonym: "renal disease (ESRD), end stage" EXACT [NCIT:C9439] -synonym: "renal disease, end stage" EXACT [NCIT:C9439] +synonym: "ESRD, end stage renal disease" EXACT [] +synonym: "renal disease (ESRD), end stage" EXACT [] +synonym: "renal disease, end stage" EXACT [] xref: DOID:783 {source="MONDO:equivalentTo"} xref: ICD10CM:N18.5 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-9612-7791"} xref: ICD9:585.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -80765,7 +80767,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0004376 name: infiltrating nipple syringomatous adenoma def: "An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported." [NCIT:P378] -synonym: "infiltrating nipple syringomatous adenoma" EXACT [NCIT:C40363] +synonym: "infiltrating nipple syringomatous adenoma" EXACT [DOID:7839, NCIT:C40363] synonym: "nipple syringomatous adenoma" EXACT [NCIT:C40363] xref: DOID:7839 {source="MONDO:equivalentTo"} xref: MEDGEN:825590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -80804,7 +80806,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood cerebral embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C6957] synonym: "childhood cerebral embryonal tumour with Multilayered Rosettes, C19MC-altered" EXACT OMO:0003005 [] -synonym: "childhood cerebral ependymoblastoma" EXACT [NCIT:C6957] +synonym: "childhood cerebral ependymoblastoma" EXACT [DOID:7841, NCIT:C6957] xref: DOID:7841 {source="MONDO:equivalentTo"} xref: MEDGEN:234125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6957 {source="DOID:7841", source="MONDO:equivalentTo"} @@ -80820,10 +80822,10 @@ name: female breast carcinoma def: "A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females." [NCIT:C2918] subset: otar {source="MONDO:OTAR"} synonym: "breast carcinoma, female" EXACT [NCIT:C2918] -synonym: "carcinoma of female breast" EXACT [DOID:7843, NCIT:C2918] +synonym: "carcinoma of female breast" EXACT [NCIT:C2918] synonym: "carcinoma of the female breast" EXACT [NCIT:C2918] -synonym: "female breast cancer" EXACT [MONDO:0000398, NCIT:C2918] -synonym: "female breast carcinoma" EXACT [NCIT:C2918] +synonym: "female breast cancer" EXACT [DOID:0050671, MONDO:0000398, NCIT:C2918] +synonym: "female breast carcinoma" EXACT [DOID:7843, NCIT:C2918] synonym: "mammary carcinoma of female breast" EXACT [DOID:7843, NCIT:C2918] synonym: "mammary carcinoma of the female breast" EXACT [NCIT:C2918] xref: DOID:0050671 {source="MONDO:equivalentTo"} @@ -80849,11 +80851,11 @@ subset: orphanet_rare {source="Orphanet:86903"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dendritic cell sarcoma" EXACT [DOID:7849, MONDO:patterns/location] -synonym: "dendritic cell sarcoma, NOS" RELATED EXCLUDE [NCIT:C27260] -synonym: "dendritic cell sarcoma, not otherwise specified" RELATED EXCLUDE [NCIT:C27260] -synonym: "dendritic cell sarcoma, not otherwise specified (morphologic abnormality)" RELATED EXCLUDE [DOID:7849] -synonym: "dendritic cell tumor, NOS" RELATED EXCLUDE [NCIT:C27260] -synonym: "dendritic cell tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C27260] +synonym: "dendritic cell sarcoma, NOS" RELATED EXCLUDE [] +synonym: "dendritic cell sarcoma, not otherwise specified" RELATED EXCLUDE [] +synonym: "dendritic cell sarcoma, not otherwise specified (morphologic abnormality)" RELATED EXCLUDE [] +synonym: "dendritic cell tumor, NOS" RELATED EXCLUDE [] +synonym: "dendritic cell tumor, not otherwise specified" RELATED EXCLUDE [] synonym: "follicular dendritic cell sarcoma" RELATED [DOID:7849] synonym: "sarcoma of dendritic cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:7849 {source="MONDO:equivalentTo"} @@ -80881,7 +80883,7 @@ id: MONDO:0004381 name: pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia def: "A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures." [NCIT:C41249] synonym: "pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia" EXACT [NCIT:C41249] -synonym: "pancreatic intraductal papillary-mucinous adenoma" EXACT [NCIT:C41249] +synonym: "pancreatic intraductal papillary-mucinous adenoma" EXACT [DOID:7851, NCIT:C41249] synonym: "pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia" EXACT [NCIT:C41249] xref: DOID:7851 {source="MONDO:equivalentTo"} xref: ICDO:8453/0 {source="NCIT:C41249"} @@ -80901,7 +80903,7 @@ synonym: "disease of larynx" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of larynx" EXACT [] synonym: "disorder of larynx" EXACT [MONDO:patterns/location_top] synonym: "disorder of the larynx" EXACT [] -synonym: "laryngeal disease" EXACT [NCIT:C26810] +synonym: "laryngeal disease" EXACT [DOID:786, NCIT:C26810] synonym: "laryngeal disorder" EXACT [NCIT:C26810] synonym: "larynx disease" EXACT [MONDO:patterns/location] synonym: "larynx disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -80926,9 +80928,9 @@ name: adult central nervous system germinoma def: "A central nervous system germinoma that occurs in an adult." [MONDO:design_pattern] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult central nervous system germinoma" EXACT [NCIT:C5792] +synonym: "adult central nervous system germinoma" EXACT [DOID:7867, NCIT:C5792] synonym: "adult CNS germinoma" EXACT [NCIT:C5792] -synonym: "central nervous system germinoma" BROAD [NCIT:C5792] +synonym: "central nervous system germinoma" BROAD [] synonym: "central nervous system germinoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "germinoma of adult central nervous system" EXACT [NCIT:C5792] synonym: "germinoma of adult CNS" EXACT [NCIT:C5792] @@ -80951,7 +80953,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "inverted papilloma of maxillary sinus" EXACT [NCIT:C6840] synonym: "inverted papilloma of the maxillary sinus" EXACT [DOID:7868, NCIT:C6840] -synonym: "maxillary sinus inverted papilloma" EXACT [MONDO:patterns/location, NCIT:C6840] +synonym: "maxillary sinus inverted papilloma" EXACT [DOID:7868, MONDO:patterns/location, NCIT:C6840] xref: DOID:7868 {source="MONDO:equivalentTo"} xref: MEDGEN:277347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6840 {source="MONDO:equivalentTo", source="DOID:7868"} @@ -80968,7 +80970,7 @@ name: adult xanthogranuloma def: "A xanthogranuloma that occurs in an adult." [MONDO:design_pattern] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult xanthogranuloma" EXACT [NCIT:C27514] +synonym: "adult xanthogranuloma" EXACT [DOID:7875, NCIT:C27514] synonym: "xanthogranuloma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:7875 {source="MONDO:equivalentTo"} xref: MEDGEN:231363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -80999,7 +81001,7 @@ intersection_of: disease_has_location UBERON:0009853 ! body of uterus id: MONDO:0004387 name: luteoma of pregnancy def: "A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required." [NCIT:C40445] -synonym: "leuteoma of pregnancy" EXACT [DOID:7880] +synonym: "leuteoma of pregnancy" EXACT [DOID:7880, NCIT:C40445] synonym: "luteoma" EXACT [DOID:7880] xref: DOID:7880 {source="MONDO:equivalentTo"} xref: MEDGEN:137726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -81074,7 +81076,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intracranial chondrosarcoma" RELATED [DOID:7903] +synonym: "intracranial chondrosarcoma" RELATED [] synonym: "intracranial extraskeletal myxoid chondrosarcoma" EXACT [NCIT:C5462] xref: DOID:7903 {source="MONDO:equivalentTo"} xref: MEDGEN:232660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -81091,7 +81093,7 @@ name: mixed astrocytoma-ependymoma def: "A tumor of mixed cell type with astrocytic components as well as ependymoma components." [NCIT:C8271] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mixed astrocytoma-ependymoma" EXACT [NCIT:C8271] +synonym: "mixed astrocytoma-ependymoma" EXACT [DOID:7907, NCIT:C8271] xref: DOID:7907 {source="MONDO:equivalentTo"} xref: MEDGEN:76166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8271 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:7907"} @@ -81105,24 +81107,24 @@ def: "A squamous cell carcinoma that arises from the mucosal epithelial surface subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "epidermoid carcinoma of maxillary antrum" EXACT [NCIT:C6064] +synonym: "epidermoid carcinoma of maxillary antrum" EXACT [] synonym: "epidermoid carcinoma of maxillary sinus" EXACT [NCIT:C6064] -synonym: "epidermoid carcinoma of maxillofacial sinus" EXACT [NCIT:C6064] -synonym: "epidermoid carcinoma of the maxillary antrum" EXACT [NCIT:C6064] +synonym: "epidermoid carcinoma of maxillofacial sinus" EXACT [] +synonym: "epidermoid carcinoma of the maxillary antrum" EXACT [] synonym: "epidermoid carcinoma of the maxillary sinus" EXACT [NCIT:C6064] -synonym: "epidermoid carcinoma of the maxillofacial sinus" EXACT [DOID:7910, NCIT:C6064] -synonym: "maxillary antrum epidermoid carcinoma" EXACT [NCIT:C6064] -synonym: "maxillary antrum squamous cell carcinoma" EXACT [NCIT:C6064] +synonym: "epidermoid carcinoma of the maxillofacial sinus" EXACT [DOID:7910] +synonym: "maxillary antrum epidermoid carcinoma" EXACT [] +synonym: "maxillary antrum squamous cell carcinoma" EXACT [] synonym: "maxillary sinus epidermoid carcinoma" EXACT [NCIT:C6064] -synonym: "maxillary sinus squamous cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "maxillofacial sinus epidermoid carcinoma" EXACT [NCIT:C6064] -synonym: "maxillofacial sinus squamous cell carcinoma" EXACT [NCIT:C6064] -synonym: "squamous cell carcinoma of maxillary antrum" EXACT [NCIT:C6064] +synonym: "maxillary sinus squamous cell carcinoma" EXACT [DOID:7910, MONDO:patterns/location, NCIT:C6064] +synonym: "maxillofacial sinus epidermoid carcinoma" EXACT [] +synonym: "maxillofacial sinus squamous cell carcinoma" EXACT [] +synonym: "squamous cell carcinoma of maxillary antrum" EXACT [] synonym: "squamous cell carcinoma of maxillary sinus" EXACT [NCIT:C6064] -synonym: "squamous cell carcinoma of maxillofacial sinus" EXACT [NCIT:C6064] -synonym: "squamous cell carcinoma of the maxillary antrum" EXACT [NCIT:C6064] +synonym: "squamous cell carcinoma of maxillofacial sinus" EXACT [] +synonym: "squamous cell carcinoma of the maxillary antrum" EXACT [] synonym: "squamous cell carcinoma of the maxillary sinus" EXACT [NCIT:C6064] -synonym: "squamous cell carcinoma of the maxillofacial sinus" EXACT [NCIT:C6064] +synonym: "squamous cell carcinoma of the maxillofacial sinus" EXACT [] xref: DOID:7910 {source="MONDO:equivalentTo"} xref: MEDGEN:277348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6064 {source="DOID:7910", source="MONDO:equivalentTo"} @@ -81181,14 +81183,14 @@ synonym: "benign mediastinal neurilemmoma" EXACT [NCIT:C6643] synonym: "benign mediastinal schwannoma" EXACT [NCIT:C6643] synonym: "benign neurilemmoma of mediastinum" EXACT [NCIT:C6643] synonym: "benign neurilemmoma of the mediastinum" EXACT [NCIT:C6643] -synonym: "benign schwannoma of mediastinum" EXACT [DOID:7922, NCIT:C6625, NCIT:C6643] +synonym: "benign schwannoma of mediastinum" EXACT [NCIT:C6643] synonym: "benign schwannoma of the mediastinum" EXACT [NCIT:C6643] -synonym: "mediastinal neurilemmoma" EXACT [NCIT:C6643] +synonym: "mediastinal neurilemmoma" EXACT [DOID:6175, NCIT:C6643] synonym: "mediastinal schwannoma" EXACT [NCIT:C6643] synonym: "mediastinum schwannoma" EXACT [MONDO:patterns/location] synonym: "neurilemmoma of mediastinum" EXACT [NCIT:C6643] synonym: "neurilemmoma of the mediastinum" EXACT [NCIT:C6643] -synonym: "schwannoma of mediastinum" EXACT [NCIT:C6643] +synonym: "schwannoma of mediastinum" EXACT [DOID:6175, NCIT:C6643] synonym: "schwannoma of the mediastinum" EXACT [NCIT:C6643] xref: DOID:6175 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:7922 {source="MONDO:equivalentTo"} @@ -81215,7 +81217,7 @@ name: malignant type A thymoma def: "A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize." [NCIT:C7999] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "malignant type A thymoma" EXACT [NCIT:C7999] +synonym: "malignant type A thymoma" EXACT [DOID:7927, NCIT:C7999] synonym: "thymoma, medullary, malignant" EXACT [DOID:7927] xref: DOID:7927 {source="MONDO:equivalentTo"} xref: ICDO:8581/3 {source="NCIT:C7999"} @@ -81237,7 +81239,7 @@ synonym: "refractory cancer of the testis" EXACT [NCIT:C9077] synonym: "refractory malignant testicular germ cell tumor" EXACT [NCIT:C9077] synonym: "refractory malignant testicular germ cell tumour" EXACT OMO:0003005 [] synonym: "refractory testicular cancer" EXACT [NCIT:C9077] -synonym: "refractory testicular carcinoma" EXACT [DOID:7928, NCIT:C9077] +synonym: "refractory testicular carcinoma" EXACT [DOID:7928] xref: DOID:7928 {source="MONDO:equivalentTo"} xref: MEDGEN:235122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9077 {source="MONDO:equivalentTo", source="DOID:7928"} @@ -81252,7 +81254,7 @@ name: testicular yolk sac tumor, glandular-alveolar pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures." [NCIT:C39926] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glandular-alveolar pattern testicular yolk sac tumor" RELATED [DOID:7930] +synonym: "glandular-alveolar pattern testicular yolk sac tumor" RELATED [] synonym: "glandular-alveolar pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, glandular-alveolar pattern" EXACT [NCIT:C39926] xref: DOID:7930 {source="MONDO:equivalentTo"} @@ -81289,7 +81291,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "precursor T lymphoblastic lymphoma/leukemia refractory" EXACT [NCIT:C8696] synonym: "refractory precursor T-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8696] -synonym: "refractory T lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8696] +synonym: "refractory T lymphoblastic leukemia/lymphoma" EXACT [DOID:7936, NCIT:C8696] xref: DOID:7936 {source="MONDO:equivalentTo"} xref: MEDGEN:167728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8696 {source="MONDO:equivalentTo", source="DOID:7936"} @@ -81307,8 +81309,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenocarcinoma arising in Barrett's mucosa" EXACT [DOID:7941, NCIT:C7027] -synonym: "Barrett adenocarcinoma" EXACT [DOID:7941, NCIT:C7027] -synonym: "Barrett's adenocarcinoma" EXACT [NCIT:C7027] +synonym: "Barrett adenocarcinoma" EXACT [DOID:7941, icd11.foundation:1934528268, NCIT:C7027] +synonym: "Barrett's adenocarcinoma" EXACT [DOID:7941, NCIT:C7027] xref: DOID:7941 {source="MONDO:equivalentTo"} xref: EFO:1001939 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1934528268 {source="MONDO:equivalentTo"} @@ -81324,10 +81326,10 @@ name: adult central nervous system mixed germ cell tumor def: "A mixed germ cell tumor of central nervous system that occurs in an adult." [MONDO:design_pattern] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult central nervous system mixed germ cell tumor" EXACT [NCIT:C27402] +synonym: "adult central nervous system mixed germ cell tumor" EXACT [DOID:7945, NCIT:C27402] synonym: "adult mixed germ cell tumor of central nervous system" EXACT [MONDO:design_pattern] synonym: "adult mixed germ cell tumour of central nervous system" EXACT OMO:0003005 [] -synonym: "central nervous system Mixed germ cell tumor" BROAD [NCIT:C27402] +synonym: "central nervous system Mixed germ cell tumor" BROAD [] synonym: "central nervous system Mixed germ cell tumour" BROAD OMO:0003005 [] synonym: "mixed germ cell tumor of central nervous system of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "mixed germ cell tumour of central nervous system of adults" EXACT OMO:0003005 [] @@ -81370,7 +81372,7 @@ is_a: MONDO:0003325 {source="DOID:7951", source="NCIT:C42059"} ! nodular ganglio id: MONDO:0004409 name: nipple duct carcinoma def: "A carcinoma that develops in the ducts of the nipple." [NCIT:C27234] -synonym: "nipple duct carcinoma" EXACT [NCIT:C27234] +synonym: "nipple duct carcinoma" EXACT [DOID:7953, NCIT:C27234] xref: DOID:7953 {source="MONDO:equivalentTo"} xref: MEDGEN:233757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27234 {source="DOID:7953", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -81386,7 +81388,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "sarcomatoid carcinoma of the penis" EXACT [NCIT:C6984] synonym: "sarcomatoid penile carcinoma" EXACT [NCIT:C6984] -synonym: "sarcomatoid penile squamous cell carcinoma" EXACT [NCIT:C6984] +synonym: "sarcomatoid penile squamous cell carcinoma" EXACT [DOID:7958, NCIT:C6984] synonym: "sarcomatous carcinoma of the penis" EXACT [DOID:7958, NCIT:C6984] synonym: "spindle cell carcinoma of the penis" EXACT [NCIT:C6984] synonym: "squamous cell carcinoma of penis, sarcomatoid type" EXACT [NCIT:C6984] @@ -81410,7 +81412,7 @@ synonym: "duodenal G-cell gastrin producing tumor" EXACT [DOID:7959, NCIT:C5731] synonym: "duodenal G-cell gastrin producing tumour" EXACT OMO:0003005 [] synonym: "duodenal gastrin-producing NET" EXACT [NCIT:C5731] synonym: "duodenal gastrin-producing neuroendocrine tumor" EXACT [NCIT:C5731] -synonym: "duodenal gastrinoma" EXACT [NCIT:C5731] +synonym: "duodenal gastrinoma" EXACT [DOID:7959, NCIT:C5731] synonym: "duodenum gastrin-producing neuroendocrine tumor" EXACT [MONDO:patterns/location] synonym: "duodenum gastrin-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gastrin producing tumor of duodenum" EXACT [NCIT:C5731] @@ -81438,8 +81440,8 @@ id: MONDO:0004412 name: malignant spiradenoma def: "A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs." [NCIT:P378] synonym: "malignant eccrine spiradenoma" EXACT [DOID:7960, NCIT:C5117] -synonym: "malignant eccrine spiradenoma (morphologic abnormality)" EXACT [DOID:7960] -synonym: "malignant spiradenoma" EXACT [NCIT:C5117] +synonym: "malignant eccrine spiradenoma (morphologic abnormality)" EXACT [] +synonym: "malignant spiradenoma" EXACT [DOID:7960, NCIT:C5117] synonym: "Spiradenocarcinoma" EXACT [NCIT:C5117] synonym: "spiradenoma, malignant" EXACT [MONDO:patterns/malignant] xref: DOID:7960 {source="MONDO:equivalentTo"} @@ -81531,7 +81533,7 @@ id: MONDO:0004419 name: lymphoma-like variant infiltrating bladder urothelial carcinoma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "infiltrating bladder urothelial carcinoma, lymphoma-like variant" EXACT [NCIT:C39822] +synonym: "infiltrating bladder urothelial carcinoma, lymphoma-like variant" EXACT [] xref: DOID:7972 {source="MONDO:equivalentTo"} xref: NCIT:C39822 {source="DOID:7972", source="MONDO:equivalentObsolete"} is_a: MONDO:0003890 {source="DOID:7972", source="NCIT:C39822"} ! infiltrating bladder urothelial carcinoma @@ -81560,7 +81562,7 @@ name: sclerosing breast papilloma def: "A breast papilloma characterized by the presence of predominant sclerosing architectural features." [NCIT:C27944] synonym: "Complex sclerosing papillary lesion" EXACT [NCIT:C27944] synonym: "Complex sclerosing papillary lesion of the breast" EXACT [NCIT:C27944] -synonym: "sclerosing breast papilloma" EXACT [NCIT:C27944] +synonym: "sclerosing breast papilloma" EXACT [DOID:7984, NCIT:C27944] xref: DOID:7984 {source="MONDO:equivalentTo"} xref: MEDGEN:233436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27944 {source="DOID:7984", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -81598,7 +81600,7 @@ def: "An osteosarcoma arising from the brain or spinal cord." [NCIT:C7002, NCIT: subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "central nervous system extraskeletal osteosarcoma" EXACT [NCIT:C7002] -synonym: "central nervous system osteosarcoma" RELATED [DOID:7994] +synonym: "central nervous system osteosarcoma" RELATED [] synonym: "central nervous system osteosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "osteosarcoma of central nervous system" EXACT [NCIT:C7002] synonym: "osteosarcoma of the central nervous system" EXACT [NCIT:C7002] @@ -81662,7 +81664,7 @@ name: supraglottis neoplasm def: "A benign or malignant neoplasm that affects the supraglottic area of the larynx." [NCIT:C6793] subset: otar {source="MONDO:OTAR"} synonym: "neoplasm of supraglottic part of larynx" EXACT [MONDO:patterns/neoplasm] -synonym: "neoplasm of supraglottis" EXACT [NCIT:C6793] +synonym: "neoplasm of supraglottis" EXACT [DOID:8002, NCIT:C6793] synonym: "neoplasm of the supraglottis" EXACT [NCIT:C6793] synonym: "supraglottic neoplasm" EXACT [NCIT:C6793] synonym: "supraglottic part of larynx neoplasm" EXACT [] @@ -81671,7 +81673,7 @@ synonym: "supraglottic part of larynx tumor" EXACT [MONDO:patterns/neoplasm] synonym: "supraglottic part of larynx tumour" EXACT OMO:0003005 [] synonym: "supraglottic tumor" EXACT [DOID:8002, NCIT:C6793] synonym: "supraglottic tumour" EXACT OMO:0003005 [] -synonym: "supraglottis neoplasm" EXACT [NCIT:C6793] +synonym: "supraglottis neoplasm" EXACT [DOID:8002, NCIT:C6793] synonym: "supraglottis tumor" EXACT [NCIT:C6793] synonym: "supraglottis tumour" EXACT OMO:0003005 [] synonym: "tumor of supraglottic part of larynx" EXACT [MONDO:patterns/neoplasm] @@ -81694,10 +81696,10 @@ id: MONDO:0004428 name: alveoli adenoma def: "A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative." [NCIT:P378] synonym: "adenoma of alveoli" EXACT [DOID:8003, NCIT:C4140] -synonym: "adenoma of the alveoli" EXACT [DOID:8003, NCIT:C4140] +synonym: "adenoma of the alveoli" EXACT [NCIT:C4140] synonym: "adenoma, bronchioloalveolar, benign" EXACT [NCIT:C4140] -synonym: "alveolar adenoma" EXACT [NCIT:C4140] -synonym: "alveolar adenoma (morphologic abnormality)" EXACT [DOID:8003] +synonym: "alveolar adenoma" EXACT [DOID:8003, NCIT:C4140] +synonym: "alveolar adenoma (morphologic abnormality)" EXACT [] xref: DOID:8003 {source="MONDO:equivalentTo"} xref: ICDO:8251/0 {source="NCIT:C4140"} xref: MEDGEN:137740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -81713,7 +81715,7 @@ def: "A meningioma (disease) that involves the zone of skin." [MONDO:patterns/lo subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "meningioma (disease) of zone of skin" EXACT [] -synonym: "primary meningioma of the skin" NARROW [DOID:8006, NCIT:C5277] +synonym: "primary meningioma of the skin" NARROW [] synonym: "zone of skin meningioma (disease)" EXACT [MONDO:patterns/location] xref: DOID:8006 {source="MONDO:equivalentTo"} xref: MEDGEN:698541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -81742,31 +81744,31 @@ id: MONDO:0004431 name: hemarthrosis def: "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." [MESH:D006395] subset: otar {source="MONDO:OTAR"} -synonym: "haemarthrosis of shoulder joint" NARROW [DOID:801] -synonym: "haemarthrosis of the ankle and foot" NARROW [DOID:801] -synonym: "haemarthrosis of the pelvic region and thigh" NARROW [DOID:801] -synonym: "hemarthrosis involving ankle and foot" NARROW [DOID:801, ICD9CM:719.17] -synonym: "hemarthrosis involving forearm" NARROW [DOID:801, ICD9CM:719.13] -synonym: "hemarthrosis involving hand" NARROW [DOID:801, ICD9CM:719.14] -synonym: "hemarthrosis involving lower leg" NARROW [DOID:801, ICD9CM:719.16] -synonym: "hemarthrosis involving pelvic region and thigh" NARROW [DOID:801, ICD9CM:719.15] -synonym: "hemarthrosis involving shoulder region" NARROW [DOID:801, ICD9CM:719.11] -synonym: "hemarthrosis involving upper arm" NARROW [DOID:801, ICD9CM:719.12] +synonym: "haemarthrosis of shoulder joint" NARROW [] +synonym: "haemarthrosis of the ankle and foot" NARROW [] +synonym: "haemarthrosis of the pelvic region and thigh" NARROW [] +synonym: "hemarthrosis involving ankle and foot" NARROW [ICD9CM:719.17] +synonym: "hemarthrosis involving forearm" NARROW [ICD9CM:719.13] +synonym: "hemarthrosis involving hand" NARROW [ICD9CM:719.14] +synonym: "hemarthrosis involving lower leg" NARROW [ICD9CM:719.16] +synonym: "hemarthrosis involving pelvic region and thigh" NARROW [ICD9CM:719.15] +synonym: "hemarthrosis involving shoulder region" NARROW [ICD9CM:719.11] +synonym: "hemarthrosis involving upper arm" NARROW [ICD9CM:719.12] synonym: "hemarthrosis of ankle and/or foot" EXACT [DOID:801] -synonym: "hemarthrosis of forearm" NARROW [DOID:801] -synonym: "hemarthrosis of hand" NARROW [DOID:801] -synonym: "hemarthrosis of lower leg" NARROW [DOID:801] -synonym: "hemarthrosis of shoulder" NARROW [DOID:801] +synonym: "hemarthrosis of forearm" NARROW [] +synonym: "hemarthrosis of hand" NARROW [] +synonym: "hemarthrosis of lower leg" NARROW [] +synonym: "hemarthrosis of shoulder" NARROW [] synonym: "hemarthrosis of shoulder region" EXACT [DOID:801] -synonym: "hemarthrosis of the ankle and foot" NARROW [DOID:801] +synonym: "hemarthrosis of the ankle and foot" NARROW [] synonym: "hemarthrosis of the ankle and/or foot" EXACT [DOID:801] -synonym: "hemarthrosis of the forearm" NARROW [DOID:801] -synonym: "hemarthrosis of the hand" NARROW [DOID:801] -synonym: "hemarthrosis of the lower leg" NARROW [DOID:801] -synonym: "hemarthrosis of the pelvic region and thigh" NARROW [DOID:801] +synonym: "hemarthrosis of the forearm" NARROW [] +synonym: "hemarthrosis of the hand" NARROW [] +synonym: "hemarthrosis of the lower leg" NARROW [] +synonym: "hemarthrosis of the pelvic region and thigh" NARROW [] synonym: "hemarthrosis of the shoulder region" EXACT [DOID:801] -synonym: "hemarthrosis of the upper arm" NARROW [DOID:801] -synonym: "hemarthrosis of upper arm" NARROW [DOID:801] +synonym: "hemarthrosis of the upper arm" NARROW [] +synonym: "hemarthrosis of upper arm" NARROW [] xref: DOID:801 {source="MONDO:equivalentTo"} xref: EFO:1001344 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:M25.0 {source="DOID:801"} @@ -81790,7 +81792,7 @@ name: mature pericardial teratoma def: "A benign teratoma that arises from the pericardium." [NCIT:C6744] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "benign pericardial teratoma" EXACT [NCIT:C6744] +synonym: "benign pericardial teratoma" EXACT [DOID:8012] synonym: "mature pericardial teratoma" EXACT [NCIT:C6744] synonym: "mature teratoma of pericardium" EXACT [DOID:8012, NCIT:C6744] synonym: "mature teratoma of the pericardium" EXACT [NCIT:C6744] @@ -81817,7 +81819,7 @@ synonym: "papillary penile carcinoma" EXACT [NCIT:C6983] synonym: "papillary penile squamous carcinoma" EXACT [NCIT:C6983] synonym: "papillary squamous carcinoma of penis" EXACT [NCIT:C6983] synonym: "papillary squamous carcinoma of the penis" EXACT [NCIT:C6983] -synonym: "penis papillary carcinoma" EXACT [MONDO:patterns/location] +synonym: "penis papillary carcinoma" EXACT [DOID:8013, MONDO:patterns/location] synonym: "squamous carcinoma of penis, papillary type" EXACT [DOID:8013, NCIT:C6983] synonym: "squamous carcinoma of the penis, papillary type" EXACT [NCIT:C6983] xref: DOID:8013 {source="MONDO:equivalentTo"} @@ -81846,7 +81848,7 @@ subset: rare synonym: "fibrosarcoma of liver" EXACT [NCIT:C5832] synonym: "fibrosarcoma of the liver" EXACT [NCIT:C5832] synonym: "hepatic fibrosarcoma" EXACT [NCIT:C5832] -synonym: "liver fibrosarcoma" EXACT [NCIT:C5832] +synonym: "liver fibrosarcoma" EXACT [DOID:8022, NCIT:C5832] synonym: "liver fibrosarcoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:8022 {source="MONDO:equivalentTo"} xref: MEDGEN:232274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -81864,7 +81866,7 @@ def: "A liposarcoma that arises from the ovary and is composed of round to oval subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "myxoid liposarcoma of ovary" EXACT [DOID:8023, NCIT:C5235] -synonym: "myxoid liposarcoma of the ovary" EXACT [NCIT:C5235] +synonym: "myxoid liposarcoma of the ovary" EXACT [DOID:8023, NCIT:C5235] synonym: "ovarian myxoid liposarcoma" EXACT [NCIT:C5235] synonym: "ovary myxoid liposarcoma" EXACT [MONDO:patterns/location] xref: DOID:8023 {source="MONDO:equivalentTo"} @@ -81886,7 +81888,7 @@ replaced_by: MONDO:0006409 id: MONDO:0004438 name: sporadic breast cancer def: "A carcinoma that arises from the breast and is not caused by inherited genetic mutations." [NCIT:P378] -synonym: "sporadic breast cancer" EXACT [NCIT:C7566] +synonym: "sporadic breast cancer" EXACT [DOID:8029, NCIT:C7566] synonym: "sporadic breast carcinoma" EXACT [NCIT:C7566] xref: DOID:8029 {source="MONDO:equivalentTo"} xref: MEDGEN:233463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -81976,7 +81978,7 @@ is_a: MONDO:0015863 {source="NCIT:C40962"} ! polyembryoma id: MONDO:0004443 name: chest wall parachordoma def: "A parachordoma arising from the chest wall." [NCIT:C6720] -synonym: "chest wall parachordoma" EXACT [MONDO:patterns/location, NCIT:C6720] +synonym: "chest wall parachordoma" EXACT [DOID:8043, MONDO:patterns/location, NCIT:C6720] synonym: "parachordoma of chest wall" EXACT [NCIT:C6720] synonym: "parachordoma of the chest wall" EXACT [DOID:8043, NCIT:C6720] xref: DOID:8043 {source="MONDO:equivalentTo"} @@ -81992,7 +81994,7 @@ intersection_of: disease_has_location UBERON:0016435 ! chest wall id: MONDO:0004444 name: bladder tubulo-cystic clear cell adenocarcinoma def: "A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern." [NCIT:C39847] -synonym: "bladder tubulo-cystic clear cell adenocarcinoma" EXACT [NCIT:C39847] +synonym: "bladder tubulo-cystic clear cell adenocarcinoma" EXACT [DOID:8050, NCIT:C39847] xref: DOID:8050 {source="MONDO:equivalentTo"} xref: MEDGEN:267060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39847 {source="MONDO:equivalentTo", source="DOID:8050", source="NCIT:C39847"} @@ -82003,7 +82005,7 @@ is_a: MONDO:0003386 {source="DOID:8050", source="NCIT:C39847"} ! bladder clear c id: MONDO:0004445 name: bladder papillary clear cell adenocarcinoma def: "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern." [NCIT:C39848] -synonym: "bladder papillary clear cell adenocarcinoma" EXACT [NCIT:C39848] +synonym: "bladder papillary clear cell adenocarcinoma" EXACT [DOID:8051, NCIT:C39848] xref: DOID:8051 {source="MONDO:equivalentTo"} xref: MEDGEN:307286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39848 {source="DOID:8051", source="MONDO:equivalentTo", source="NCIT:C39848"} @@ -82054,7 +82056,7 @@ name: frontal sinus inverted papilloma def: "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "frontal sinus inverted papilloma" EXACT [MONDO:patterns/location] +synonym: "frontal sinus inverted papilloma" EXACT [DOID:8060, MONDO:patterns/location, NCIT:C6842] synonym: "inverted papilloma of frontal sinus" EXACT [NCIT:C6842] synonym: "inverted papilloma of the frontal sinus" EXACT [DOID:8060, NCIT:C6842] xref: DOID:8060 {source="MONDO:equivalentTo"} @@ -82115,7 +82117,7 @@ name: childhood central nervous system germinoma def: "A germinoma arising from the central nervous system during childhood." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Central nervous system germinoma" BROAD [NCIT:C27406] +synonym: "Central nervous system germinoma" BROAD [] synonym: "central nervous system germinoma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric central nervous system germinoma" EXACT OMO:0003005 [] synonym: "pediatric central nervous system germinoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] @@ -82134,7 +82136,7 @@ name: testicular yolk sac tumor, myxomatous pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli." [NCIT:C39929] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "myxomatous pattern testicular yolk sac tumor" RELATED [DOID:8081] +synonym: "myxomatous pattern testicular yolk sac tumor" RELATED [] synonym: "myxomatous pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, myxomatous pattern" EXACT [NCIT:C39929] xref: DOID:8081 {source="MONDO:equivalentTo"} @@ -82150,7 +82152,7 @@ def: "A congenital mesoblastic nephroma characterized by increased cellularity, subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cellular congenital mesoblastic nephroma" EXACT [NCIT:C39815] +synonym: "cellular congenital mesoblastic nephroma" EXACT [DOID:8082, NCIT:C39815] xref: DOID:8082 {source="MONDO:equivalentTo"} xref: MEDGEN:729112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39815 {source="DOID:8082", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -82163,7 +82165,7 @@ name: classic congenital mesoblastic nephroma def: "A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation." [NCIT:C39814] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "classic congenital mesoblastic nephroma" EXACT [NCIT:C39814] +synonym: "classic congenital mesoblastic nephroma" EXACT [DOID:8083, NCIT:C39814] xref: DOID:8083 {source="MONDO:equivalentTo"} xref: MEDGEN:273923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39814 {source="MONDO:equivalentTo", source="DOID:8083", source="MONDO:exact-label-match"} @@ -82193,9 +82195,9 @@ def: "A papilloma that arises from the ciliated respiratory mucosa that lines th subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "maxillary sinus paranasal sinus Schneiderian papilloma" EXACT [MONDO:patterns/location] -synonym: "maxillary sinus Schneiderian papilloma" EXACT [NCIT:C6839] +synonym: "maxillary sinus Schneiderian papilloma" EXACT [DOID:8093, NCIT:C6839] synonym: "paranasal sinus Schneiderian papilloma of maxillary sinus" EXACT [MONDO:design_pattern] -synonym: "Schneiderian papilloma of maxillary sinus" RELATED [NCIT:C6839] +synonym: "Schneiderian papilloma of maxillary sinus" RELATED [] synonym: "Schneiderian papilloma of the maxillary sinus" EXACT [DOID:8093, NCIT:C6839] xref: DOID:8093 {source="MONDO:equivalentTo"} xref: MEDGEN:235306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -82221,7 +82223,7 @@ is_a: MONDO:0002751 {source="DOID:8096", source="NCIT:C39839"} ! bladder adenoca id: MONDO:0004459 name: bladder hepatoid adenocarcinoma def: "A hepatoid adenocarcinoma that involves the urinary bladder." [MONDO:patterns/location] -synonym: "bladder hepatoid adenocarcinoma" EXACT [NCIT:C39838] +synonym: "bladder hepatoid adenocarcinoma" EXACT [DOID:8097, NCIT:C39838] xref: DOID:8097 {source="MONDO:equivalentTo"} xref: MEDGEN:267739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39838 {source="MONDO:equivalentTo", source="DOID:8097", source="NCIT:C39838"} @@ -82237,11 +82239,11 @@ name: thyroid gland fetal adenoma def: "A thyroid gland adenoma composed of microfollicular structures." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "fetal adenoma" RELATED EXCLUDE [DOID:8102] +synonym: "fetal adenoma" RELATED EXCLUDE [] synonym: "foetal adenoma" RELATED OMO:0003005 [] -synonym: "microfollicular adenoma" EXACT [NCIT:C4160] -synonym: "microfollicular adenoma (morphologic abnormality)" EXACT [DOID:8102] -synonym: "thyroid fetal adenoma" EXACT [NCIT:C4160] +synonym: "microfollicular adenoma" EXACT [DOID:8102, NCIT:C4160] +synonym: "microfollicular adenoma (morphologic abnormality)" EXACT [] +synonym: "thyroid fetal adenoma" EXACT [] synonym: "thyroid foetal adenoma" EXACT OMO:0003005 [] synonym: "thyroid gland microfollicular adenoma" EXACT [NCIT:C4160] xref: DOID:8102 {source="MONDO:equivalentTo"} @@ -82256,7 +82258,7 @@ is_a: MONDO:0005032 {source="DOID:8102", source="NCIT:C4160"} ! follicular thyro id: MONDO:0004461 name: vaginal tubulovillous adenoma def: "An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern." [NCIT:C40258] -synonym: "vaginal tubulovillous adenoma" EXACT [NCIT:C40258] +synonym: "vaginal tubulovillous adenoma" EXACT [DOID:8104, NCIT:C40258] xref: DOID:8104 {source="MONDO:equivalentTo"} xref: MEDGEN:275576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40258 {source="DOID:8104", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -82273,7 +82275,7 @@ name: extrahepatic bile duct cystadenoma def: "A mucinous cystic neoplasm that arises from the extrahepatic bile ducts." [NCIT:P378] synonym: "cystadenoma of extrahepatic bile duct" EXACT [NCIT:C5851] synonym: "cystadenoma of the extrahepatic bile duct" EXACT [DOID:8105, NCIT:C5851] -synonym: "extrahepatic bile duct cystadenoma" EXACT [MONDO:patterns/location, NCIT:C5851] +synonym: "extrahepatic bile duct cystadenoma" EXACT [DOID:8105, MONDO:patterns/location, NCIT:C5851] synonym: "extrahepatic bile duct mucinous cystic neoplasm" EXACT [NCIT:C5851] xref: DOID:8105 {source="MONDO:equivalentTo"} xref: MEDGEN:272603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -82290,8 +82292,8 @@ name: cellular phase chronic idiopathic myelofibrosis def: "Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "chronic idiopathic myelofibrosis, cellular phase" EXACT [NCIT:C41237] -synonym: "chronic idiopathic myelofibrosis, Prefibrotic stage" EXACT [NCIT:C41237] +synonym: "chronic idiopathic myelofibrosis, cellular phase" EXACT [] +synonym: "chronic idiopathic myelofibrosis, Prefibrotic stage" EXACT [] synonym: "PMFPES" RELATED ABBREVIATION [ONCOTREE:PMFPES] synonym: "Prefibrotic/Early Primary myelofibrosis" EXACT [NCIT:C41237] synonym: "primary myelofibrosis, Prefibrotic stage" EXACT [NCIT:C41237] @@ -82326,8 +82328,8 @@ name: periampullary adenocarcinoma def: "An adenocarcinoma that arises from the periampullary region." [NCIT:C27322] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "periampullary adenocarcinoma" EXACT [NCIT:C27322] -synonym: "periampullary cancer" EXACT [NCIT:C27322] +synonym: "periampullary adenocarcinoma" EXACT [DOID:8110, NCIT:C27322] +synonym: "periampullary cancer" EXACT [] synonym: "periampullary region of duodenum adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:8110 {source="MONDO:equivalentTo"} xref: MEDGEN:233847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -82357,7 +82359,7 @@ name: mature gastric teratoma def: "A benign teratoma that arises from the stomach." [NCIT:C5260] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mature gastric teratoma" EXACT [NCIT:C5260] +synonym: "mature gastric teratoma" EXACT [DOID:8118, NCIT:C5260] synonym: "mature teratoma of stomach" EXACT [DOID:8118, NCIT:C5260] synonym: "mature teratoma of the stomach" EXACT [NCIT:C5260] synonym: "stomach mature teratoma" EXACT [MONDO:patterns/location] @@ -82377,10 +82379,10 @@ def: "Paget disease involving the squamous epithelium of the anal canal." [NCIT: subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "anal canal mammary Paget's disease" EXACT [MONDO:patterns/location] -synonym: "anal canal Paget disease" EXACT [DOID:8119, MONDO:patterns/location] -synonym: "anal canal Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C7477] +synonym: "anal canal Paget disease" EXACT [DOID:8119, MONDO:patterns/location, NCIT:C7477] +synonym: "anal canal Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:8119, MONDO:LexicalVariant, NCIT:C7477] synonym: "Paget disease of the anal canal" EXACT [NCIT:C7477] -synonym: "Paget's disease of anal canal" EXACT [DOID:8119, NCIT:C7477] +synonym: "Paget's disease of anal canal" EXACT [NCIT:C7477] synonym: "Paget's disease of the anal canal" EXACT [DOID:8119, NCIT:C7477] xref: DOID:8119 {source="MONDO:equivalentTo"} xref: MEDGEN:231062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -82396,8 +82398,8 @@ intersection_of: disease_has_location UBERON:0000159 ! anal canal [Term] id: MONDO:0004469 name: pseudovascular skin squamous cell carcinoma -synonym: "pseudovascular skin squamous cell carcinoma" EXACT [NCIT:C27542] -synonym: "skin pseudovascular squamous cell carcinoma" RELATED [NCIT:C27542] +synonym: "pseudovascular skin squamous cell carcinoma" EXACT [DOID:8122, NCIT:C27542] +synonym: "skin pseudovascular squamous cell carcinoma" RELATED [] xref: DOID:8122 {source="MONDO:equivalentTo"} xref: MEDGEN:233447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27542 {source="MONDO:equivalentTo", source="DOID:8122"} @@ -82416,9 +82418,9 @@ id: MONDO:0004471 name: bacterial arthritis def: "The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." [NCIT:C26699] subset: otar {source="MONDO:OTAR"} -synonym: "infectious arthritis" BROAD [DOID:813] +synonym: "infectious arthritis" BROAD [] synonym: "pyogenic arthritis" EXACT [NCIT:C26699] -synonym: "septic arthritis" EXACT [NCIT:C26699] +synonym: "septic arthritis" EXACT [DOID:813, NCIT:C26699] xref: DOID:813 {source="MONDO:equivalentTo"} xref: EFO:1001351 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:M00 {source="DOID:813"} @@ -82471,7 +82473,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:2 ! Bacteria id: MONDO:0004472 name: breast columnar cell mucinous carcinoma def: "An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified." [NCIT:C40355] -synonym: "breast columnar cell mucinous carcinoma" EXACT [NCIT:C40355] +synonym: "breast columnar cell mucinous carcinoma" EXACT [DOID:8130, NCIT:C40355] xref: DOID:8130 {source="MONDO:equivalentTo"} xref: MEDGEN:307307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40355 {source="MONDO:equivalentTo", source="DOID:8130", source="MONDO:exact-label-match"} @@ -82487,21 +82489,21 @@ name: epiglottis cancer def: "A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas." [NCIT:C4836] synonym: "cancer of epiglottis" EXACT [MONDO:patterns/cancer] synonym: "epiglottic cancer" EXACT [DOID:8133, NCIT:C35697] -synonym: "epiglottic carcinoma" NARROW [NCIT:C35697] +synonym: "epiglottic carcinoma" NARROW [] synonym: "epiglottic throat cancer" EXACT [NCIT:C35697] -synonym: "epiglottis cancer" EXACT [MONDO:patterns/location] +synonym: "epiglottis cancer" EXACT [DOID:8133, MONDO:patterns/location] synonym: "malignant epiglottic neoplasm" EXACT [NCIT:C4836] synonym: "malignant epiglottic tumor" EXACT [NCIT:C4836] synonym: "malignant epiglottic tumour" EXACT OMO:0003005 [] synonym: "malignant Epiglottis neoplasm" EXACT [NCIT:C4836] -synonym: "malignant epiglottis neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant epiglottis neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4836] synonym: "malignant Epiglottis tumor" EXACT [NCIT:C4836] synonym: "malignant Epiglottis tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of anterior aspect of epiglottis" NARROW [DOID:8133] -synonym: "malignant neoplasm of anterior epiglottis" EXACT [DOID:8133] -synonym: "malignant neoplasm of anterior surface of epiglottis" NARROW [DOID:8133, MTH:U001374] +synonym: "malignant neoplasm of anterior aspect of epiglottis" NARROW [] +synonym: "malignant neoplasm of anterior epiglottis" EXACT [] +synonym: "malignant neoplasm of anterior surface of epiglottis" NARROW [MTH:U001374] synonym: "malignant neoplasm of Epiglottis" EXACT [NCIT:C4836] -synonym: "malignant neoplasm of epiglottis" EXACT [DOID:8133, MONDO:patterns/cancer] +synonym: "malignant neoplasm of epiglottis" EXACT [MONDO:patterns/cancer, NCIT:C4836] synonym: "malignant neoplasm of the Epiglottis" EXACT [NCIT:C4836] synonym: "malignant tumor of Epiglottis" EXACT [DOID:8133, NCIT:C4836] synonym: "malignant tumor of the Epiglottis" EXACT [NCIT:C4836] @@ -82534,7 +82536,7 @@ def: "A lymphoma that arises from the gallbladder, with the bulk of the tumor lo subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "gall bladder lymphoma" EXACT [MONDO:patterns/location] -synonym: "gallbladder lymphoma" EXACT [NCIT:C5734] +synonym: "gallbladder lymphoma" EXACT [DOID:8135, NCIT:C5734] synonym: "lymphoma of gall bladder" EXACT [MONDO:design_pattern] synonym: "lymphoma of gallbladder" EXACT [NCIT:C5734] synonym: "lymphoma of the gallbladder" EXACT [DOID:8135, NCIT:C5734] @@ -82557,8 +82559,8 @@ subset: rare synonym: "clear cell carcinoma of the Thymus" EXACT [DOID:8137, NCIT:C6462] synonym: "clear cell carcinoma of Thymus" EXACT [NCIT:C6462] synonym: "thymic clear cell carcinoma" EXACT [NCIT:C6462] -synonym: "Thymus clear cell carcinoma" EXACT [NCIT:C6462] -synonym: "thymus clear cell carcinoma" EXACT [NCIT:C6462] +synonym: "Thymus clear cell carcinoma" EXACT [DOID:8137, NCIT:C6462] +synonym: "thymus clear cell carcinoma" EXACT [DOID:8137, NCIT:C6462] xref: DOID:8137 {source="MONDO:equivalentTo"} xref: MEDGEN:272488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6462 {source="DOID:8137", source="NCIT:C6462", source="MONDO:equivalentTo"} @@ -82579,7 +82581,7 @@ def: "A ganglioneuroblastoma arising from the adrenal gland." [NCIT:C7646] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adrenal ganglioneuroblastoma" EXACT [NCIT:C7646] -synonym: "adrenal gland ganglioneuroblastoma" EXACT [NCIT:C7646] +synonym: "adrenal gland ganglioneuroblastoma" EXACT [DOID:8140, NCIT:C7646] synonym: "adrenal gland ganglioneuroblastoma (disease)" EXACT [MONDO:patterns/location] synonym: "ganglioneuroblastoma (disease) of adrenal gland" EXACT [] xref: DOID:8140 {source="MONDO:equivalentTo"} @@ -82601,7 +82603,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene" EXACT [NCIT:C37204] synonym: "CLL/SLL with unmutated IGVH" EXACT [DOID:8144, NCIT:C37204] -synonym: "pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [NCIT:C37204] +synonym: "pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma" EXACT [DOID:8144, NCIT:C37204] xref: DOID:8144 {source="MONDO:equivalentTo"} xref: MEDGEN:234146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C37204 {source="MONDO:equivalentTo", source="DOID:8144"} @@ -82615,12 +82617,12 @@ name: malignant childhood germ cell neoplasm def: "A malignant germ cell tumor that occurs during childhood." [NCIT:C6541] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "malignant childhood germ cell neoplasm" EXACT [NCIT:C6541] -synonym: "malignant childhood germ cell tumor" RELATED [NCIT:C6541] +synonym: "malignant childhood germ cell neoplasm" EXACT [DOID:8149, NCIT:C6541] +synonym: "malignant childhood germ cell tumor" RELATED [] synonym: "malignant childhood germ cell tumour" RELATED OMO:0003005 [] synonym: "malignant paediatric germ cell neoplasm" RELATED OMO:0003005 [] synonym: "malignant paediatric germ cell tumour" EXACT OMO:0003005 [] -synonym: "malignant pediatric germ cell neoplasm" RELATED [NCIT:C6541] +synonym: "malignant pediatric germ cell neoplasm" RELATED [] synonym: "malignant pediatric germ cell tumor" EXACT [DOID:8149, NCIT:C6541] xref: DOID:8149 {source="MONDO:equivalentTo"} xref: MEDGEN:233150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -82646,7 +82648,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5726] synonym: "pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma" EXACT [NCIT:C5726] -synonym: "pancreatic invasive intraductal papillary-mucinous carcinoma" EXACT [NCIT:C5726] +synonym: "pancreatic invasive intraductal papillary-mucinous carcinoma" EXACT [DOID:8150, NCIT:C5726] xref: DOID:8150 {source="MONDO:equivalentTo"} xref: ICDO:8453/3 {source="NCIT:C5726"} xref: MEDGEN:275329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -82661,7 +82663,7 @@ id: MONDO:0004482 name: fibroosseous pseudotumor of the digits def: "A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion." [NCIT:C6573] synonym: "fibroosseous digital pseudotumor" EXACT [DOID:8153, NCIT:C6573] -synonym: "fibroosseous pseudotumor of digits" EXACT [NCIT:C6573] +synonym: "fibroosseous pseudotumor of digits" EXACT [DOID:8153, NCIT:C6573] synonym: "fibroosseous pseudotumor of the digits" EXACT [NCIT:C6573] xref: DOID:8153 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -82682,33 +82684,33 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign oncocytoma of the thyroid" EXACT [DOID:8162, NCIT:C6042] -synonym: "benign oncocytoma of the thyroid gland" RELATED [NCIT:C6042] -synonym: "benign oncocytoma of thyroid" RELATED [NCIT:C6042] -synonym: "benign oncocytoma of thyroid gland" RELATED [NCIT:C6042] -synonym: "benign thyroid gland oncocytoma" RELATED [NCIT:C6042] -synonym: "benign thyroid oncocytoma" RELATED [NCIT:C6042] -synonym: "follicular adenoma of the thyroid gland of the oxyphilic cell type" RELATED [NCIT:C6042] -synonym: "follicular adenoma of the thyroid of the oxyphilic cell type" RELATED [NCIT:C6042] -synonym: "follicular adenoma of thyroid gland of oxyphilic cell type" RELATED [NCIT:C6042] -synonym: "follicular adenoma of thyroid of oxyphilic cell type" RELATED [NCIT:C6042] -synonym: "Hurthle cell adenoma" RELATED [NCIT:C6042] -synonym: "Hurthle cell adenoma of the thyroid" RELATED [NCIT:C6042] -synonym: "Hurthle cell adenoma of the thyroid gland" RELATED [NCIT:C6042] -synonym: "Hurthle cell adenoma of thyroid" RELATED [NCIT:C6042] -synonym: "Hurthle cell adenoma of thyroid gland" RELATED [NCIT:C6042] +synonym: "benign oncocytoma of the thyroid gland" RELATED [] +synonym: "benign oncocytoma of thyroid" RELATED [] +synonym: "benign oncocytoma of thyroid gland" RELATED [] +synonym: "benign thyroid gland oncocytoma" RELATED [] +synonym: "benign thyroid oncocytoma" RELATED [] +synonym: "follicular adenoma of the thyroid gland of the oxyphilic cell type" RELATED [] +synonym: "follicular adenoma of the thyroid of the oxyphilic cell type" RELATED [] +synonym: "follicular adenoma of thyroid gland of oxyphilic cell type" RELATED [] +synonym: "follicular adenoma of thyroid of oxyphilic cell type" RELATED [] +synonym: "Hurthle cell adenoma" RELATED [] +synonym: "Hurthle cell adenoma of the thyroid" RELATED [] +synonym: "Hurthle cell adenoma of the thyroid gland" RELATED [] +synonym: "Hurthle cell adenoma of thyroid" RELATED [] +synonym: "Hurthle cell adenoma of thyroid gland" RELATED [] synonym: "OAT" BROAD ABBREVIATION [ONCOTREE:OAT] -synonym: "oncocytic adenoma of the thyroid" RELATED [NCIT:C6042] -synonym: "oncocytic adenoma of the thyroid gland" RELATED [NCIT:C6042] -synonym: "oncocytic adenoma of thyroid" RELATED [NCIT:C6042] -synonym: "oncocytic adenoma of thyroid gland" RELATED [NCIT:C6042] -synonym: "thyroid follicular adenoma of oxyphilic cell type" RELATED [NCIT:C6042] -synonym: "thyroid follicular adenoma of the oxyphilic cell type" RELATED [NCIT:C6042] -synonym: "thyroid gland follicular adenoma of oxyphilic cell type" RELATED [NCIT:C6042] -synonym: "thyroid gland follicular adenoma of the oxyphilic cell type" RELATED [NCIT:C6042] -synonym: "thyroid gland Hurthle cell adenoma" RELATED [NCIT:C6042] +synonym: "oncocytic adenoma of the thyroid" RELATED [] +synonym: "oncocytic adenoma of the thyroid gland" RELATED [] +synonym: "oncocytic adenoma of thyroid" RELATED [] +synonym: "oncocytic adenoma of thyroid gland" RELATED [] +synonym: "thyroid follicular adenoma of oxyphilic cell type" RELATED [] +synonym: "thyroid follicular adenoma of the oxyphilic cell type" RELATED [] +synonym: "thyroid gland follicular adenoma of oxyphilic cell type" RELATED [] +synonym: "thyroid gland follicular adenoma of the oxyphilic cell type" RELATED [] +synonym: "thyroid gland Hurthle cell adenoma" RELATED [] synonym: "thyroid gland oncocytic adenoma" EXACT [NCIT:C6042] -synonym: "thyroid Hurthle cell adenoma" RELATED [NCIT:C6042] -synonym: "thyroid oncocytic adenoma" RELATED [NCIT:C6042] +synonym: "thyroid Hurthle cell adenoma" RELATED [] +synonym: "thyroid oncocytic adenoma" RELATED [] xref: DOID:8162 {source="MONDO:equivalentTo"} xref: MEDGEN:237009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6042 {source="NCIT:C6042", source="MONDO:equivalentTo", source="DOID:8162"} @@ -82727,7 +82729,7 @@ subset: rare synonym: "gall bladder melanoma" EXACT [] synonym: "gall bladder melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "gallbladder malignant melanoma" EXACT [NCIT:C5735] -synonym: "gallbladder melanoma" EXACT [NCIT:C5735] +synonym: "gallbladder melanoma" EXACT [DOID:8167, NCIT:C5735] synonym: "malignant melanoma of gallbladder" EXACT [DOID:8167, NCIT:C5735] synonym: "malignant melanoma of the gallbladder" EXACT [NCIT:C5735] synonym: "melanoma (disease) of gall bladder" EXACT [] @@ -82772,7 +82774,7 @@ is_a: MONDO:0003238 {source="DOID:8177", source="NCIT:C40232"} ! cervical adenom id: MONDO:0004487 name: endometrial type cervical adenomyoma def: "An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia." [NCIT:P378] -synonym: "cervical adenomyoma, endometrial type" EXACT [NCIT:C40233] +synonym: "cervical adenomyoma, endometrial type" EXACT [] xref: DOID:8178 {source="MONDO:equivalentTo"} xref: NCIT:C40233 {source="MONDO:equivalentTo", source="DOID:8178"} is_a: MONDO:0003238 {source="DOID:8178", source="NCIT:C40233"} ! cervical adenomyoma @@ -82794,7 +82796,7 @@ def: "A malignant trophoblastic tumor that arises from the fallopian tube during subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "fallopian tube gestational choriocarcinoma" EXACT [MONDO:patterns/location, NCIT:C6278] +synonym: "fallopian tube gestational choriocarcinoma" EXACT [DOID:8186, MONDO:patterns/location, NCIT:C6278] synonym: "gestational choriocarcinoma of fallopian tube" EXACT [NCIT:C6278] synonym: "gestational choriocarcinoma of the fallopian tube" EXACT [DOID:8186, NCIT:C6278] xref: DOID:8186 {source="MONDO:equivalentTo"} @@ -82824,7 +82826,7 @@ synonym: "body of uterus choriocarcinoma (disease)" EXACT [MONDO:patterns/locati synonym: "body of uterus gestational choriocarcinoma" EXACT [MONDO:patterns/location] synonym: "choriocarcinoma" RELATED [ONCOTREE:UCCA] synonym: "gestational choriocarcinoma of body of uterus" EXACT [MONDO:design_pattern] -synonym: "gestational uterine corpus choriocarcinoma" EXACT [NCIT:C27246] +synonym: "gestational uterine corpus choriocarcinoma" EXACT [DOID:8187, NCIT:C27246] synonym: "uterine corpus gestational choriocarcinoma" EXACT [NCIT:C27246] xref: DOID:8187 {source="MONDO:equivalentTo"} xref: DOID:8188 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -82867,7 +82869,7 @@ name: testicular yolk sac tumor, papillary pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli." [NCIT:C39928] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "papillary pattern testicular yolk sac tumor" RELATED [DOID:8193] +synonym: "papillary pattern testicular yolk sac tumor" RELATED [] synonym: "papillary pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, papillary pattern" EXACT [NCIT:C39928] xref: DOID:8193 {source="MONDO:equivalentTo"} @@ -82882,7 +82884,7 @@ name: testicular yolk sac tumor, hepatoid pattern def: "A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections." [NCIT:C39931] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "hepatoid pattern testicular yolk sac tumor" RELATED [DOID:8195] +synonym: "hepatoid pattern testicular yolk sac tumor" RELATED [] synonym: "hepatoid pattern testicular yolk sac tumour" RELATED OMO:0003005 [] synonym: "testicular yolk sac tumor, hepatoid pattern" EXACT [NCIT:C39931] xref: DOID:8195 {source="MONDO:equivalentTo"} @@ -82918,7 +82920,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "inflammation of myocardium" EXACT [] synonym: "myocardial inflammation" EXACT [DOID:820] -synonym: "myocardial inflammation (finding)" EXACT [DOID:820] +synonym: "myocardial inflammation (finding)" EXACT [] synonym: "myocardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:820 {source="MONDO:equivalentTo"} xref: EFO:0009609 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -82947,9 +82949,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7137/myocard id: MONDO:0004497 name: tertiary syphilis def: "A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis)." [NCIT:C128414] -synonym: "late syphilis" EXACT [DOID:8200] +synonym: "late syphilis" EXACT [DOID:8200, NCIT:C128414] synonym: "late tertiary syphilis" EXACT [] -synonym: "tertiary syphilis" EXACT [] +synonym: "tertiary syphilis" EXACT [DOID:8200, NCIT:C128414] xref: DOID:8200 {source="MONDO:equivalentTo"} xref: ICD10CM:A52 {source="DOID:8200"} xref: ICD10CM:A52.3 {source="DOID:8200"} @@ -82987,8 +82989,8 @@ id: MONDO:0004499 name: lung hilum carcinoma def: "A lung carcinoma arising from the hilum of the lung." [NCIT:C7454] synonym: "carcinoma of lung hilus" EXACT [MONDO:patterns/carcinoma] -synonym: "hilar lung carcinoma" EXACT [NCIT:C7454] -synonym: "lung hilum cancer" BROAD [NCIT:C7454] +synonym: "hilar lung carcinoma" EXACT [DOID:8207, NCIT:C7454] +synonym: "lung hilum cancer" BROAD [] synonym: "lung hilum carcinoma" EXACT [NCIT:C7454] synonym: "lung hilus carcinoma" EXACT [MONDO:patterns/location] xref: DOID:8207 {source="MONDO:equivalentTo"} @@ -83020,7 +83022,7 @@ def: "A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cystadenofibroma of fallopian tube" EXACT [MONDO:design_pattern] -synonym: "fallopian tube cystadenofibroma" EXACT [MONDO:patterns/location, NCIT:C40114] +synonym: "fallopian tube cystadenofibroma" EXACT [DOID:8211, MONDO:patterns/location, NCIT:C40114] synonym: "fallopian tube serous cystadenofibroma" EXACT [NCIT:C40114] xref: DOID:8211 {source="MONDO:equivalentTo"} xref: MEDGEN:273292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -83076,7 +83078,7 @@ id: MONDO:0004505 name: central breast papilloma def: "A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge." [NCIT:P378] synonym: "large duct breast papilloma" EXACT [DOID:8224, NCIT:C36087] -synonym: "solitary intraductal breast papilloma" EXACT [DOID:8224] +synonym: "solitary intraductal breast papilloma" EXACT [DOID:8224, NCIT:C36087] xref: DOID:8224 {source="MONDO:equivalentTo"} xref: MEDGEN:272446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C36087 {source="MONDO:equivalentTo", source="DOID:8224"} @@ -83087,7 +83089,7 @@ is_a: MONDO:0021097 {source="DOID:8224", source="NCIT:C36087"} ! intraductal bre id: MONDO:0004506 name: microscopic breast papilloma def: "A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic." [NCIT:P378] -synonym: "microscopic breast papilloma" EXACT [NCIT:C36088] +synonym: "microscopic breast papilloma" EXACT [DOID:8225, NCIT:C36088] synonym: "peripheral breast papilloma" EXACT [NCIT:C36088] xref: DOID:8225 {source="MONDO:equivalentTo"} xref: MEDGEN:233851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -83099,7 +83101,7 @@ is_a: MONDO:0021097 {source="DOID:8225", source="NCIT:C36088"} ! intraductal bre id: MONDO:0004507 name: atypical breast papilloma def: "An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia." [NCIT:C36089] -synonym: "atypical breast papilloma" EXACT [NCIT:C36089] +synonym: "atypical breast papilloma" EXACT [DOID:8227, NCIT:C36089] xref: DOID:8227 {source="MONDO:equivalentTo"} xref: MEDGEN:233997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C36089 {source="DOID:8227", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -83112,7 +83114,7 @@ name: periapical periodontitis def: "Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess." [MESH:D010485] subset: otar {source="MONDO:OTAR"} synonym: "apical periodontitis" EXACT [DOID:823] -synonym: "apical periodontitis NOS" RELATED EXCLUDE [DOID:823] +synonym: "apical periodontitis NOS" RELATED EXCLUDE [] xref: DOID:823 {source="MONDO:equivalentTo"} xref: EFO:1001391 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K04.5 {source="DOID:823"} @@ -83129,7 +83131,7 @@ name: intrahepatic biliary papillomatosis def: "A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts." [NCIT:P378] synonym: "intrahepatic bile duct papillary neoplasm" EXACT [NCIT:C7125] synonym: "intrahepatic bile duct papillomatosis" EXACT [NCIT:C7125] -synonym: "intrahepatic biliary papillomatosis" EXACT [NCIT:C7125] +synonym: "intrahepatic biliary papillomatosis" EXACT [DOID:8230, NCIT:C7125] xref: DOID:8230 {source="MONDO:equivalentTo"} xref: MEDGEN:233574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7125 {source="MONDO:equivalentTo", source="DOID:8230"} @@ -83172,11 +83174,11 @@ name: meningeal melanomatosis def: "A meningeal melanoma with secondary diffuse meningeal spread. (WHO)" [NCIT:C6891] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "leptomeningeal melanomatosis" RELATED [DOID:8243, NCIT:C6891] +synonym: "leptomeningeal melanomatosis" RELATED [] synonym: "melanomatosis of meningeal cluster" EXACT [MONDO:design_pattern] synonym: "meningeal cluster melanomatosis" EXACT [MONDO:patterns/location] -synonym: "meningeal melanomatosis" EXACT [NCIT:C6891] -synonym: "meningeal melanomatosis (morphologic abnormality)" EXACT [DOID:8243] +synonym: "meningeal melanomatosis" EXACT [DOID:8243, NCIT:C6891] +synonym: "meningeal melanomatosis (morphologic abnormality)" EXACT [] xref: DOID:8243 {source="MONDO:equivalentTo"} xref: ICDO:8728/3 {source="NCIT:C6891"} xref: MEDGEN:226843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -83195,7 +83197,7 @@ name: adult pleomorphic rhabdomyosarcoma def: "An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities." [NCIT:C27369] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult pleomorphic rhabdomyosarcoma" EXACT [NCIT:C27369] +synonym: "adult pleomorphic rhabdomyosarcoma" EXACT [DOID:8251, NCIT:C27369] synonym: "pleomorphic rhabdomyosarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:8251 {source="MONDO:equivalentTo"} xref: ICDO:8901/3 {source="NCIT:C27369"} @@ -83253,7 +83255,7 @@ def: "A tuberculosis that involves the ureter." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "tuberculosis of ureter" EXACT [DOID:827] -synonym: "ureter tuberculosis" EXACT [MONDO:patterns/location] +synonym: "ureter tuberculosis" EXACT [DOID:827, MONDO:patterns/location] xref: DOID:827 {source="MONDO:equivalentTo"} xref: ICD9:016.2 {source="DOID:827"} xref: ICD9:016.20 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -83272,7 +83274,7 @@ def: "A malignant neoplasm that affects the portion of the urethra that is close synonym: "anterior urethra malignant neoplasm" EXACT [NCIT:C7641] synonym: "anterior urethra malignant tumor" EXACT [NCIT:C7641] synonym: "anterior urethra malignant tumour" EXACT OMO:0003005 [] -synonym: "anterior urethral cancer" EXACT [NCIT:C7641] +synonym: "anterior urethral cancer" EXACT [] synonym: "anterior urethral malignant neoplasm" EXACT [NCIT:C7641] synonym: "anterior urethral malignant tumor" EXACT [DOID:8272, NCIT:C7641] synonym: "anterior urethral malignant tumour" EXACT OMO:0003005 [] @@ -83316,11 +83318,11 @@ name: intratubular embryonal carcinoma def: "Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)" [NCIT:C7325] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "intratubular embryonal carcinoma" EXACT [NCIT:C7325] -synonym: "stage 0 testicular embryonal carcinoma" EXACT [NCIT:C7325] -synonym: "stage 0 testicular embryonal carcinoma aJCC v6" EXACT [NCIT:C7325] -synonym: "stage 0 testicular embryonal carcinoma aJCC v6 and v7" EXACT [NCIT:C7325] -synonym: "stage 0 testicular embryonal carcinoma aJCC v7" EXACT [NCIT:C7325] +synonym: "intratubular embryonal carcinoma" EXACT [DOID:8275] +synonym: "stage 0 testicular embryonal carcinoma" EXACT [] +synonym: "stage 0 testicular embryonal carcinoma aJCC v6" EXACT [] +synonym: "stage 0 testicular embryonal carcinoma aJCC v6 and v7" EXACT [] +synonym: "stage 0 testicular embryonal carcinoma aJCC v7" EXACT [] xref: DOID:8275 {source="MONDO:equivalentTo"} xref: MEDGEN:1832671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7325 {source="MONDO:equivalentTo", source="DOID:8275"} @@ -83333,8 +83335,8 @@ name: adult epithelioid sarcoma def: "An epithelioid sarcoma occurring in adults." [NCIT:C7944] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adult epithelioid sarcoma" EXACT [NCIT:C7944] -synonym: "epithelioid sarcoma" BROAD [NCIT:C7944] +synonym: "adult epithelioid sarcoma" EXACT [DOID:8282, NCIT:C7944] +synonym: "epithelioid sarcoma" BROAD [] synonym: "epithelioid sarcoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:8282 {source="MONDO:equivalentTo"} xref: MEDGEN:124631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -83352,10 +83354,10 @@ subset: otar {source="MONDO:OTAR"} synonym: "acute generalised peritonitis" EXACT OMO:0003005 [] synonym: "acute generalized peritonitis" EXACT [DOID:8283] synonym: "inflammation of peritoneum" EXACT [] -synonym: "peritoneum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] +synonym: "peritoneum inflammation" EXACT [icd11.foundation:775356003, MONDO:patterns/inflammatory_disease_by_site] synonym: "primary bacterial peritonitis" EXACT [DOID:8283] synonym: "retractile mesenteritis" EXACT [DOID:8283] -synonym: "sclerosing mesenteritis" RELATED EXCLUDE [DOID:8283] +synonym: "sclerosing mesenteritis" RELATED EXCLUDE [] xref: DOID:8283 {source="MONDO:equivalentTo"} xref: EFO:0008588 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:775356003 {source="MONDO:equivalentTo"} @@ -83378,7 +83380,7 @@ intersection_of: disease_has_inflammation_site UBERON:0002358 ! peritoneum id: MONDO:0004523 name: clear cell squamous cell skin carcinoma def: "A squamous cell carcinoma of the skin with a prominent clear cell component." [NCIT:C4459] -synonym: "clear cell squamous cell carcinoma of skin" EXACT [NCIT:C4459] +synonym: "clear cell squamous cell carcinoma of skin" EXACT [DOID:8288, NCIT:C4459] synonym: "clear cell squamous cell carcinoma of the skin" EXACT [NCIT:C4459] synonym: "clear cell squamous cell skin carcinoma" EXACT [DOID:8288, NCIT:C4459] xref: DOID:8288 {source="MONDO:equivalentTo"} @@ -83396,7 +83398,7 @@ def: "A thyroid gland adenoma with increased cellularity and nuclear atypia. The subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "atypical follicular adenoma" EXACT [DOID:8292, NCIT:C27729] -synonym: "atypical follicular adenoma (morphologic abnormality)" EXACT [DOID:8292] +synonym: "atypical follicular adenoma (morphologic abnormality)" EXACT [] synonym: "thyroid gland atypical follicular adenoma" EXACT [NCIT:C27729] xref: DOID:8292 {source="MONDO:equivalentTo"} xref: ICDO:8330/1 {source="NCIT:C27729"} @@ -83415,7 +83417,7 @@ synonym: "infestation by Sarcoptes scabiei var hominis" EXACT [DOID:8295] synonym: "Sarcoptes scabiei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Sarcoptes scabiei disease or disorder" EXACT [] synonym: "Sarcoptes scabiei infectious disease" EXACT [] -synonym: "sarcoptic itch" EXACT [DOID:8295] +synonym: "sarcoptic itch" EXACT [DOID:8295, ICD10CM:B86, icd11.foundation:876005123] xref: DOID:8295 {source="MONDO:equivalentTo"} xref: ICD10CM:B86 {source="MONDO:equivalentTo", source="DOID:8295"} xref: icd11.foundation:876005123 {source="MONDO:equivalentTo"} @@ -83440,7 +83442,7 @@ name: mixed endometrial stromal and smooth muscle tumor def: "A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma." [NCIT:C40179] synonym: "mixed endometrial stromal and smooth muscle neoplasm" EXACT [NCIT:C40178] synonym: "Stromomyoma" EXACT [DOID:8302, NCIT:C40178] -synonym: "uterine corpus soft tissue neoplasm" EXACT [NCIT:C40179] +synonym: "uterine corpus soft tissue neoplasm" EXACT [] xref: DOID:8302 {source="MONDO:equivalentTo"} xref: MEDGEN:269077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40178 {source="DOID:8302", source="MONDO:equivalentTo"} @@ -83483,7 +83485,7 @@ id: MONDO:0004529 name: non-ossifying fibromyxoid tumor def: "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present." [NCIT:C6583] synonym: "nonossifying fibromyxoid neoplasm" EXACT [NCIT:C6583] -synonym: "nonossifying fibromyxoid tumor" EXACT [NCIT:C6583] +synonym: "nonossifying fibromyxoid tumor" EXACT [DOID:8305, NCIT:C6583] synonym: "nonossifying fibromyxoid tumour" EXACT OMO:0003005 [] synonym: "nonossifying fibromyxoma" EXACT [DOID:8305, NCIT:C6583] xref: DOID:8305 {source="MONDO:equivalentTo"} @@ -83512,7 +83514,7 @@ id: MONDO:0004531 name: sclerosing adenosis of breast def: "Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present." [NCIT:P378] synonym: "breast sclerosing adenosis" EXACT [NCIT:C5205] -synonym: "sclerosing adenosis" EXACT [NCIT:C5205] +synonym: "sclerosing adenosis" EXACT [] synonym: "sclerosing adenosis of the breast" EXACT [NCIT:C5205] synonym: "sclerosing breast adenosis" EXACT [DOID:8310, NCIT:C5205] xref: DOID:8310 {source="MONDO:equivalentTo"} @@ -83527,7 +83529,7 @@ is_a: MONDO:0003725 {source="DOID:8310", source="NCIT:C5205"} ! breast adenosis id: MONDO:0004532 name: auditory system cancer def: "A malignant neoplasm involving the auditory system" [https://orcid.org/0000-0002-6601-2165] -synonym: "auditory system cancer" EXACT [MONDO:patterns/location] +synonym: "auditory system cancer" EXACT [DOID:833, MONDO:patterns/location] synonym: "cancer of auditory system" EXACT [MONDO:patterns/cancer] synonym: "malignant auditory system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of auditory system" EXACT [MONDO:patterns/cancer] @@ -83574,7 +83576,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "childhood choriocarcinoma of ovary" EXACT [NCIT:C6549] -synonym: "childhood ovarian choriocarcinoma" EXACT [NCIT:C6549] +synonym: "childhood ovarian choriocarcinoma" EXACT [DOID:8336, NCIT:C6549] synonym: "choriocarcinoma of ovary of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric choriocarcinoma of ovary" EXACT OMO:0003005 [] synonym: "paediatric choriocarcinoma of the ovary" EXACT OMO:0003005 [] @@ -83620,8 +83622,8 @@ name: endocervical type cervical mucinous adenocarcinoma def: "A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cervical adenocarcinoma, endocervical type" EXACT [NCIT:C40202] -synonym: "cervical mucinous adenocarcinoma, endocervical type" EXACT [NCIT:C40202] +synonym: "cervical adenocarcinoma, endocervical type" EXACT [] +synonym: "cervical mucinous adenocarcinoma, endocervical type" EXACT [] xref: DOID:8340 {source="MONDO:equivalentTo"} xref: NCIT:C40202 {source="MONDO:equivalentObsolete", source="DOID:8340"} is_a: MONDO:0002742 {source="DOID:8340", source="NCIT:C40202"} ! cervical mucinous adenocarcinoma @@ -83631,7 +83633,7 @@ id: MONDO:0004539 name: aortic malignant tumor def: "A cancer that involves the aorta." [MONDO:patterns/location] synonym: "aorta cancer" EXACT [] -synonym: "aortic malignant neoplasm" EXACT [DOID:8352] +synonym: "aortic malignant neoplasm" EXACT [DOID:8352, NCIT:C5375] synonym: "cancer of aorta" EXACT [MONDO:patterns/cancer] synonym: "malignant aorta neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant aortic neoplasm" EXACT [NCIT:C5375] @@ -83657,7 +83659,7 @@ name: epithelioid malignant peripheral nerve sheath tumor def: "A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells." [NCIT:C6561] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "epithelioid malignant peripheral nerve sheath tumor" EXACT [NCIT:C6561] +synonym: "epithelioid malignant peripheral nerve sheath tumor" EXACT [DOID:8353, NCIT:C6561] synonym: "epithelioid MPNST" EXACT [DOID:8353, NCIT:C6561] synonym: "malignant epithelioid neoplasm of peripheral nerve sheath" EXACT [NCIT:C6561] synonym: "malignant epithelioid neoplasm of the peripheral nerve sheath" EXACT [DOID:8353, NCIT:C6561] @@ -83703,8 +83705,8 @@ synonym: "cervical adenosquamous carcinoma, glassy cell variant" EXACT [NCIT:C40 synonym: "GCC of the cervix" RELATED [GARD:0008437] synonym: "glassy cell adenocarcinoma of the uterine cervix" RELATED [GARD:0008437, MESH:C536823] synonym: "glassy cell carcinoma of the cervix" RELATED [GARD:0008437] -synonym: "glassy cell carcinoma of the cervix uteri" RELATED [Orphanet:213833] -synonym: "glassy cell variant cervical adenosquamous carcinoma" RELATED [DOID:8361] +synonym: "glassy cell carcinoma of the cervix uteri" RELATED [] +synonym: "glassy cell variant cervical adenosquamous carcinoma" RELATED [] xref: DOID:8361 {source="MONDO:equivalentTo"} xref: GARD:20500 {source="MONDO:GARD"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213833", source="Orphanet:213833/btnt"} @@ -83742,7 +83744,7 @@ subset: rare synonym: "CHOM" RELATED ABBREVIATION [ONCOTREE:CHOM] synonym: "chordoid meningioma" EXACT [DOID:8368, NCIT:C6908] synonym: "meningioma, chordoid" EXACT [DOID:8368] -synonym: "meningioma, chordoid (morphologic abnormality)" EXACT [DOID:8368] +synonym: "meningioma, chordoid (morphologic abnormality)" EXACT [] xref: DOID:8368 {source="MONDO:equivalentTo"} xref: MEDGEN:235089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6908 {source="DOID:8368", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -83765,13 +83767,13 @@ synonym: "adult malignant neurilemmoma" EXACT [NCIT:C7814] synonym: "adult malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C7814] synonym: "adult malignant peripheral nerve sheath tumor" EXACT [NCIT:C7814] synonym: "adult malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] -synonym: "adult malignant schwannoma" EXACT [NCIT:C7814] +synonym: "adult malignant schwannoma" EXACT [DOID:8369, NCIT:C7814] synonym: "adult malignant tumor of peripheral nerve sheath" EXACT [NCIT:C7814] synonym: "adult malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C7814] synonym: "adult malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 [] synonym: "adult malignant tumour of the peripheral nerve sheath" EXACT OMO:0003005 [] synonym: "adult MPNST" EXACT [DOID:8369, NCIT:C7814] -synonym: "malignant peripheral nerve sheath tumor" BROAD [NCIT:C7814] +synonym: "malignant peripheral nerve sheath tumor" BROAD [] synonym: "malignant peripheral nerve sheath tumour" BROAD OMO:0003005 [] xref: DOID:8369 {source="MONDO:equivalentTo"} xref: MEDGEN:75845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -83832,9 +83834,9 @@ def: "A rare sex cord-stromal tumor that arises from the testis in adults. Gynec subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "adult testicular granulosa cell tumor" EXACT [] +synonym: "adult testicular granulosa cell tumor" EXACT [NCIT:C39946] synonym: "adult testicular granulosa cell tumour" EXACT OMO:0003005 [] -synonym: "adult type testicular granulosa cell tumor" EXACT [NCIT:C39946] +synonym: "adult type testicular granulosa cell tumor" EXACT [DOID:8394, NCIT:C39946] xref: DOID:8394 {source="MONDO:equivalentTo"} xref: MEDGEN:272840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C39946 {source="MONDO:equivalentTo", source="DOID:8394"} @@ -83876,9 +83878,9 @@ subset: rare synonym: "cornea melanoma" EXACT [NCIT:C4553] synonym: "cornea melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "corneal melanoma" EXACT [NCIT:C4553] -synonym: "malignant cornea melanoma" EXACT [NCIT:C4553] +synonym: "malignant cornea melanoma" EXACT [DOID:8400, NCIT:C4553] synonym: "malignant corneal melanoma" EXACT [DOID:8400, NCIT:C4553] -synonym: "malignant melanoma of cornea" EXACT [NCIT:C4553] +synonym: "malignant melanoma of cornea" EXACT [DOID:8400, NCIT:C4553] synonym: "malignant melanoma of the cornea" EXACT [NCIT:C4553] synonym: "melanoma (disease) of cornea" EXACT [] synonym: "melanoma of cornea" EXACT [NCIT:C4553] @@ -83898,8 +83900,8 @@ id: MONDO:0004551 name: Meckel diverticulitis def: "Inflammation of a congenital diverticulum of the lower intestine." [NCIT:P378] synonym: "inflammation of Meckel's diverticulum" EXACT [] -synonym: "Meckel diverticulitis" EXACT [DOID:8408, NCIT:C27300] -synonym: "Meckel's diverticulitis" RELATED [NCIT:C27300] +synonym: "Meckel diverticulitis" EXACT [DOID:8408, icd11.foundation:543494453, NCIT:C27300] +synonym: "Meckel's diverticulitis" RELATED [] synonym: "Meckel's diverticulum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:8408 {source="MONDO:equivalentTo"} xref: icd11.foundation:543494453 {source="MONDO:equivalentTo"} @@ -83960,9 +83962,9 @@ name: kidney angiomyolipoma def: "An angiomyolipoma arising from the kidney." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "angiomyolipoma of kidney" EXACT [NCIT:C3888] +synonym: "angiomyolipoma of kidney" EXACT [DOID:8411, NCIT:C3888] synonym: "angiomyolipoma of the kidney" EXACT [NCIT:C3888] -synonym: "kidney angiomyolipoma" EXACT [MONDO:patterns/location] +synonym: "kidney angiomyolipoma" EXACT [DOID:8411, MONDO:patterns/location, NCIT:C3888] synonym: "RAML" RELATED ABBREVIATION [ONCOTREE:RAML] synonym: "renal angiomyolipoma" EXACT [DOID:8411, NCIT:C3888] xref: DOID:8411 {source="MONDO:equivalentTo"} @@ -83980,7 +83982,7 @@ intersection_of: disease_has_location UBERON:0002113 ! kidney id: MONDO:0004556 name: carcinoma arising in nasal papillomatosis def: "A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose." [NCIT:C27389] -synonym: "carcinoma arising in nasal papillomatosis" EXACT [NCIT:C27389] +synonym: "carcinoma arising in nasal papillomatosis" EXACT [DOID:8415, NCIT:C27389] xref: DOID:8415 {source="MONDO:equivalentTo"} xref: MEDGEN:272434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27389 {source="DOID:8415", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -83994,11 +83996,11 @@ def: "A fibrosarcoma that occurs in infants. It shares identical morphologic fea subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital fibrosarcoma" EXACT [NCIT:C4244] +synonym: "congenital fibrosarcoma" EXACT [DOID:8418, NCIT:C4244] synonym: "IFS" RELATED ABBREVIATION [ONCOTREE:IFS] -synonym: "infantile fibrosarcoma" EXACT [NCIT:C4244] -synonym: "infantile fibrosarcoma (congenital fibrosarcoma)" EXACT [NCIT:C4244] -synonym: "infantile fibrosarcoma (morphologic abnormality)" EXACT [DOID:8418] +synonym: "infantile fibrosarcoma" EXACT [DOID:8418, NCIT:C4244] +synonym: "infantile fibrosarcoma (congenital fibrosarcoma)" EXACT [] +synonym: "infantile fibrosarcoma (morphologic abnormality)" EXACT [] xref: DOID:8418 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICDO:8814/3 {source="NCIT:C4244"} @@ -84019,9 +84021,9 @@ name: thyroid gland macrofollicular adenoma def: "A thyroid gland adenoma composed of large size follicles." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "colloid adenoma" RELATED [DOID:8419] -synonym: "macrofollicular adenoma" EXACT [NCIT:C4161] -synonym: "macrofollicular adenoma (morphologic abnormality)" EXACT [DOID:8419] +synonym: "colloid adenoma" RELATED [] +synonym: "macrofollicular adenoma" EXACT [DOID:8419, NCIT:C4161] +synonym: "macrofollicular adenoma (morphologic abnormality)" EXACT [] xref: DOID:8419 {source="MONDO:equivalentTo"} xref: ICDO:8334/0 {source="NCIT:C4161"} xref: MEDGEN:90763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -84045,7 +84047,7 @@ synonym: "malignant glandular peripheral nerve sheath neoplasm" EXACT [NCIT:C656 synonym: "malignant glandular peripheral nerve sheath tumor" EXACT [NCIT:C6560] synonym: "malignant glandular peripheral nerve sheath tumour" EXACT OMO:0003005 [] synonym: "malignant glandular schwannoma" EXACT [NCIT:C6560] -synonym: "malignant glandular tumor of peripheral nerve sheath" EXACT [NCIT:C6560] +synonym: "malignant glandular tumor of peripheral nerve sheath" EXACT [DOID:8420, NCIT:C6560] synonym: "malignant glandular tumor of the peripheral nerve sheath" EXACT [NCIT:C6560] synonym: "malignant glandular tumour of the peripheral nerve sheath" EXACT OMO:0003005 [] xref: DOID:8420 {source="MONDO:equivalentTo"} @@ -84065,7 +84067,7 @@ synonym: "follicular infundibulum neoplasm" EXACT [NCIT:C4469] synonym: "neoplasm of the follicular infundibulum" EXACT [DOID:8426, NCIT:C4469] synonym: "tumor of follicular infundibulum" EXACT [DOID:8426] synonym: "tumor of the follicular infundibulum" EXACT [NCIT:C4469] -synonym: "tumour of follicular infundibulum" EXACT OMO:0003005 [] +synonym: "tumour of follicular infundibulum" EXACT OMO:0003005 [DOID:8426] synonym: "tumour of the follicular infundibulum" EXACT OMO:0003005 [] xref: DOID:8426 {source="MONDO:equivalentTo"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -84089,7 +84091,7 @@ synonym: "melanoma of retina" EXACT [NCIT:C8601] synonym: "melanoma of the retina" EXACT [NCIT:C8601] synonym: "retina melanoma" EXACT [] synonym: "retina melanoma (disease)" EXACT [MONDO:patterns/location] -synonym: "retinal melanoma" EXACT [NCIT:C8601] +synonym: "retinal melanoma" EXACT [DOID:8427, NCIT:C8601] xref: DOID:8427 {source="MONDO:equivalentTo"} xref: MEDGEN:163431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8601 {source="DOID:8427", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -84203,7 +84205,7 @@ is_a: MONDO:0004565 {source="DOID:8440", source="MESH:D045823"} ! intestinal obs id: MONDO:0004568 name: paralytic ileus def: "An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction." [NCIT:P378] -synonym: "paralytic ileus" EXACT [MONDO:ambiguous] +synonym: "paralytic ileus" EXACT [DOID:8442, icd11.foundation:1868011045, MONDO:ambiguous, NCIT:C93045] synonym: "paralytic ileus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:8442 {source="MONDO:equivalentTo"} xref: HP:0002590 {source="MONDO:otherHierarchy"} @@ -84243,7 +84245,7 @@ name: intestinal volvulus def: "Twisting of a loop of bowel that results in intestinal obstruction." [NCIT:P378] synonym: "intestinal volvulus" EXACT [DOID:8445] synonym: "twist of intestine, bowel, or colon" EXACT [DOID:8445] -synonym: "volvulus" EXACT [DOID:8445, ICD9CM:560.2] +synonym: "volvulus" EXACT [DOID:8445, ICD10CM:K56.2, ICD9CM:560.2] xref: DOID:8445 {source="MONDO:equivalentTo"} xref: ICD10CM:K56.2 {source="DOID:8445", source="MONDO:equivalentTo"} xref: ICD9:560.2 {source="DOID:8445", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -84277,10 +84279,10 @@ is_a: MONDO:0004565 {source="DOID:8448"} ! intestinal obstruction id: MONDO:0004572 name: cyclothymic disorder def: "An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood." [MESH:D003527] -synonym: "affective personality disorder" EXACT [DOID:845, ICD9CM:301.1] -synonym: "cycloid personality" EXACT [DOID:845] -synonym: "cyclothymia" EXACT [DOID:845] -synonym: "cyclothymic personality" EXACT [DOID:845] +synonym: "affective personality disorder" EXACT [DOID:845, ICD10CM:F34.0, ICD9CM:301.1] +synonym: "cycloid personality" EXACT [DOID:845, ICD10CM:F34.0, icd11.foundation:1427638883] +synonym: "cyclothymia" EXACT [DOID:845, ICD10CM:F34.0, icd11.foundation:1427638883] +synonym: "cyclothymic personality" EXACT [DOID:845, ICD10CM:F34.0, icd11.foundation:1427638883] xref: DOID:845 {source="MONDO:equivalentTo"} xref: ICD10CM:F34.0 {source="DOID:845", source="MONDO:equivalentTo"} xref: icd11.foundation:1427638883 {source="MONDO:equivalentTo"} @@ -84308,7 +84310,7 @@ id: MONDO:0004573 name: ariboflavinosis def: "A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)" [MESH:D012257] subset: otar {source="MONDO:OTAR"} -synonym: "riboflavin deficiency" EXACT [OMIM:615026] +synonym: "riboflavin deficiency" EXACT [DOID:8454, OMIM:615026] synonym: "vitamin B2 deficiency" EXACT [DOID:8454] xref: DOID:8454 {source="MONDO:equivalentTo"} xref: ICD10CM:E53.0 {source="DOID:8454"} @@ -84383,7 +84385,7 @@ name: corneal ulcer def: "Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber." [NCIT:P378] synonym: "cornea ulcer disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "ulcer disease of cornea" EXACT [MONDO:design_pattern] -synonym: "Ulcer, corneal" EXACT [NCIT:C50515] +synonym: "Ulcer, corneal" EXACT [] xref: DOID:8463 {source="MONDO:equivalentTo"} xref: HP:0200020 {source="MONDO:otherHierarchy"} xref: ICD10CM:H16.0 {source="MONDO:equivalentTo", source="DOID:8463"} @@ -84440,8 +84442,8 @@ name: retinal degeneration def: "Degeneration of the retina." [NCIT:C34979] subset: otar {source="MONDO:OTAR"} synonym: "degeneration of retina" EXACT [DOID:8466] -synonym: "retina degeneration" EXACT [DOID:8466, MTH:649] -synonym: "retina, Degeneration Of" EXACT [NCIT:C34979] +synonym: "retina degeneration" EXACT [MTH:649] +synonym: "retina, Degeneration Of" EXACT [] xref: DOID:8466 {source="MONDO:equivalentTo"} xref: MEDGEN:48432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D012162 {source="MONDO:equivalentTo", source="DOID:8466"} @@ -84467,10 +84469,10 @@ subset: rare synonym: "active rheumatic fever with myocarditis" EXACT [DOID:8481] synonym: "acute rheumatic carditis" EXACT [DOID:8481] synonym: "acute rheumatic myocarditis" EXACT [DOID:8481, ICD9CM:391.2, NCIT:C35202] -synonym: "acute rheumatic myocarditis (disorder) [ambiguous]" EXACT [DOID:8481] +synonym: "acute rheumatic myocarditis (disorder) [ambiguous]" EXACT [] synonym: "rheumatic degeneration of myocardium" EXACT [DOID:8481] synonym: "rheumatic fever with myocarditis" EXACT [DOID:8481] -synonym: "rheumatic myocarditis" EXACT [DOID:8481, ICD9CM:398.0] +synonym: "rheumatic myocarditis" EXACT [DOID:8481, icd11.foundation:1177212968, ICD9CM:398.0] synonym: "rheumatoid myocarditis" EXACT [DOID:8481] xref: DOID:8481 {source="MONDO:equivalentTo"} xref: ICD10CM:I01.9 {source="DOID:8481"} @@ -84545,7 +84547,7 @@ id: MONDO:0004585 name: polyhydramnios def: "An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm." [NCIT:P378] comment: May be obsoleted as it represents a finding -synonym: "polyhydramnios" EXACT [MONDO:ambiguous] +synonym: "polyhydramnios" EXACT [DOID:8488, MONDO:ambiguous] synonym: "polyhydramnios (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:8488 {source="MONDO:equivalentTo"} xref: HP:0001561 {source="MONDO:otherHierarchy"} @@ -84607,7 +84609,7 @@ id: MONDO:0004588 name: night blindness def: "Inability to see clearly in dim light." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "nyctalopia" EXACT [NCIT:C34850] +synonym: "nyctalopia" EXACT [DOID:8499, icd11.foundation:205882698, NCIT:C34850] xref: DOID:8499 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.6 {source="MONDO:equivalentTo", source="DOID:8499"} xref: ICD10CM:H53.60 {source="DOID:8499"} @@ -84684,9 +84686,9 @@ id: MONDO:0004593 name: Bartholin duct cyst def: "Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "Bartholin's cyst" EXACT [DOID:851, NCIT:C26706] +synonym: "Bartholin's cyst" EXACT [DOID:851] synonym: "Bartholin's duct cyst" EXACT [DOID:851] -synonym: "cyst of Bartholin's gland" EXACT [DOID:851] +synonym: "cyst of Bartholin's gland" EXACT [DOID:851, ICD10CM:N75.0] synonym: "cyst of Bartholin's gland duct" EXACT [DOID:851] xref: DOID:851 {source="MONDO:equivalentTo"} xref: ICD10CM:N75.0 {source="MONDO:equivalentTo", source="DOID:851"} @@ -84734,7 +84736,7 @@ name: cor pulmonale def: "Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism." [MESH:D011660] subset: otar {source="MONDO:OTAR"} synonym: "cardiopulmonary disease" EXACT [DOID:8515] -synonym: "cor pulmonale" EXACT [MESH:D011660] +synonym: "cor pulmonale" EXACT [DOID:8515, ICD10CM:I27.81, icd11.foundation:738218522, MESH:D011660] synonym: "disease, pulmonary heart" RELATED [MESH:D011660] synonym: "diseases, pulmonary heart" RELATED [MESH:D011660] synonym: "heart disease, pulmonary" RELATED [MESH:D011660] @@ -84764,7 +84766,7 @@ id: MONDO:0004597 name: pulmonary embolism and infarction def: "Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism." [NCIT:C50714] comment: Editor note: add terms for pulmonary necrosis -synonym: "infarction, pulmonary" EXACT [NCIT:C50714] +synonym: "infarction, pulmonary" EXACT [] synonym: "lung infarction" RELATED [Wikipedia:Lung_infarction] synonym: "pulmonary infarction" RELATED [] xref: DOID:8516 {source="MONDO:equivalentTo"} @@ -84783,7 +84785,7 @@ relationship: excluded_subClassOf MONDO:0004595 {source="DOID:8516", source="htt id: MONDO:0004598 name: acute cor pulmonale def: "A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation." [PMID:19186411] -synonym: "acute pulmonary heart disease" EXACT [MONDO:0004595] +synonym: "acute pulmonary heart disease" EXACT [DOID:8514, MONDO:0004595] synonym: "cor pulmonale, acute" EXACT [MONDO:patterns/acute] xref: DOID:8514 {source="MONDO:equivalentTo"} xref: DOID:8517 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -84825,7 +84827,7 @@ name: monocytic leukemia subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "schilling's leukaemia" EXACT OMO:0003005 [] +synonym: "schilling's leukaemia" EXACT OMO:0003005 [DOID:8527] synonym: "schilling's leukemia" EXACT [DOID:8527] xref: DOID:8527 {source="MONDO:equivalentTo"} xref: ICD10CM:C93.Z {source="DOID:8527"} @@ -84848,10 +84850,10 @@ is_a: MONDO:0005059 {source="DOID:8527/inferred"} ! leukemia id: MONDO:0004601 name: ulcer of lower limbs def: "Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer." [DOID:8529, http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer] -synonym: "Ulcer of ankle" NARROW [DOID:8529] -synonym: "Ulcer of calf" NARROW [DOID:8529] -synonym: "Ulcer of heel and midfoot" NARROW [DOID:8529] -synonym: "Ulcer of thigh" NARROW [DOID:8529] +synonym: "Ulcer of ankle" NARROW [] +synonym: "Ulcer of calf" NARROW [] +synonym: "Ulcer of heel and midfoot" NARROW [] +synonym: "Ulcer of thigh" NARROW [] xref: DOID:8529 {source="MONDO:equivalentTo"} xref: ICD9:707.13 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:9701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -84886,11 +84888,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_histopathological_subtype {source="Orphanet:98845"} subset: ordo_subtype_of_a_disorder {source="Orphanet:98845"} subset: rare -synonym: "classic Hodgkin lymphoma, lymphocyte-rich type" EXACT [MONDO:0020329] -synonym: "Hodgkin lymphoma, lymphocyte-rich" EXACT [DOID:8543] +synonym: "classic Hodgkin lymphoma, lymphocyte-rich type" EXACT [MONDO:0020329, Orphanet:98845] +synonym: "Hodgkin lymphoma, lymphocyte-rich" EXACT [DOID:8543, NCIT:C6913] synonym: "Hodgkin lymphoma, lymphocytic-histiocytic predominance" EXACT [DOID:8543] synonym: "Hodgkin's disease, lymphocyte predominance" EXACT [DOID:8543] -synonym: "Hodgkin's disease, lymphocyte predominance [obs]" EXACT [DOID:8543] +synonym: "Hodgkin's disease, lymphocyte predominance [obs]" EXACT [] synonym: "LRCHL" EXACT ABBREVIATION [NCIT:C6913] synonym: "lymphocyte rich classical Hodgkin lymphoma" EXACT [NCIT:C6913] synonym: "lymphocyte rich classical Hodgkin's disease" EXACT [NCIT:C6913] @@ -84899,7 +84901,7 @@ synonym: "lymphocyte rich Hodgkin lymphoma" EXACT [NCIT:C6913] synonym: "lymphocyte rich Hodgkin's disease" EXACT [DOID:8543, NCIT:C6913] synonym: "lymphocyte rich Hodgkin's lymphoma" EXACT [NCIT:C6913] synonym: "lymphocyte-rich Classic Hodgkin lymphoma" EXACT [NCIT:C6913] -synonym: "lymphocyte-rich classical Hodgkin lymphoma" EXACT [NCIT:C6913] +synonym: "lymphocyte-rich classical Hodgkin lymphoma" EXACT [icd11.foundation:352299041, NCIT:C6913] synonym: "lymphocyte-rich classical Hodgkin's lymphoma" EXACT [NCIT:C6913] xref: DOID:8543 {source="MONDO:equivalentTo"} xref: GARD:19593 {source="MONDO:GARD"} @@ -84927,9 +84929,9 @@ is_a: MONDO:0009348 {source="NCIT:C6913", source="ONCOTREE:LRCHL", source="Orpha id: MONDO:0004605 name: chronic ulcer of skin synonym: "callous ulcer" EXACT [DOID:8549] -synonym: "callous ulcer (morphologic abnormality)" EXACT [DOID:8549] +synonym: "callous ulcer (morphologic abnormality)" EXACT [] synonym: "indolent ulcer" EXACT [DOID:8549] -synonym: "indolent ulcer (morphologic abnormality)" EXACT [DOID:8549] +synonym: "indolent ulcer (morphologic abnormality)" EXACT [] xref: DOID:8549 {source="MONDO:equivalentTo"} xref: ICD10CM:L98.4 {source="DOID:8549"} xref: ICD9:707 {source="DOID:8549"} @@ -84977,27 +84979,27 @@ name: oropharynx cancer def: "A primary or metastatic malignant neoplasm that affects the oropharynx." [NCIT:C7398] subset: otar {source="MONDO:OTAR"} synonym: "cancer of oropharynx" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of junctional region of oropharynx" EXACT [DOID:8557] -synonym: "malignant neoplasm of lateral wall of oropharynx" EXACT [DOID:8557, MTH:U000704] -synonym: "malignant neoplasm of oropharynx" EXACT [DOID:8557, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C7398] -synonym: "malignant neoplasm of posterior wall of oropharynx" EXACT [DOID:8557] +synonym: "malignant neoplasm of junctional region of oropharynx" EXACT [] +synonym: "malignant neoplasm of lateral wall of oropharynx" EXACT [MTH:U000704] +synonym: "malignant neoplasm of oropharynx" EXACT [ICD10CM:C10, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C7398] +synonym: "malignant neoplasm of posterior wall of oropharynx" EXACT [] synonym: "malignant neoplasm of the oropharynx" EXACT [NCIT:C7398] synonym: "malignant oropharyngeal neoplasm" EXACT [NCIT:C7398] synonym: "malignant oropharyngeal tumor" EXACT [DOID:8557, NCIT:C7398] synonym: "malignant oropharyngeal tumour" EXACT OMO:0003005 [] synonym: "malignant oropharynx neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant tumor of mesopharynx" EXACT [DOID:8557] -synonym: "malignant tumor of oropharynx" EXACT [NCIT:C7398] -synonym: "malignant tumor of posterior wall of oropharynx" EXACT [DOID:8557] +synonym: "malignant tumor of mesopharynx" EXACT [] +synonym: "malignant tumor of oropharynx" EXACT [DOID:8557, NCIT:C7398] +synonym: "malignant tumor of posterior wall of oropharynx" EXACT [] synonym: "malignant tumor of the oropharynx" EXACT [NCIT:C7398] -synonym: "malignant tumour of mesopharynx" EXACT OMO:0003005 [] +synonym: "malignant tumour of mesopharynx" EXACT OMO:0003005 [DOID:8557] synonym: "malignant tumour of oropharynx" EXACT OMO:0003005 [] synonym: "malignant tumour of posterior wall of oropharynx" EXACT OMO:0003005 [] synonym: "malignant tumour of the oropharynx" EXACT OMO:0003005 [] synonym: "oropharyngeal cancer" EXACT [DOID:8557] -synonym: "oropharyngeal carcinoma" NARROW [DOID:8557, NCIT:C9105] -synonym: "oropharynx cancer" EXACT [MONDO:patterns/location] -synonym: "primary malignant neoplasm of lateral wall of oropharynx" EXACT [DOID:8557] +synonym: "oropharyngeal carcinoma" NARROW [] +synonym: "oropharynx cancer" EXACT [DOID:8557, MONDO:patterns/location] +synonym: "primary malignant neoplasm of lateral wall of oropharynx" EXACT [] xref: DOID:8557 {source="MONDO:equivalentTo"} xref: EFO:1001931 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C10 {source="DOID:8557", source="MONDO:equivalentTo"} @@ -85068,16 +85070,16 @@ id: MONDO:0004611 name: soft palate cancer def: "A primary or metastatic malignant neoplasm that affects the soft palate." [NCIT:C3529] synonym: "cancer of soft palate" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of soft palate" EXACT [MONDO:patterns/cancer, NCIT:C3529] +synonym: "malignant neoplasm of soft palate" EXACT [ICD10CM:C05.1, MONDO:patterns/cancer, NCIT:C3529] synonym: "malignant neoplasm of the soft palate" EXACT [NCIT:C3529] synonym: "malignant soft palate neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3529] synonym: "malignant soft palate tumor" EXACT [NCIT:C3529] synonym: "malignant soft palate tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of soft palate" EXACT [NCIT:C3529] +synonym: "malignant tumor of soft palate" EXACT [DOID:8578, NCIT:C3529] synonym: "malignant tumor of the soft palate" EXACT [DOID:8578, NCIT:C3529] synonym: "malignant tumour of soft palate" EXACT OMO:0003005 [] synonym: "malignant tumour of the soft palate" EXACT OMO:0003005 [] -synonym: "soft palate cancer" EXACT [MONDO:patterns/location] +synonym: "soft palate cancer" EXACT [DOID:8578, MONDO:patterns/location] xref: DOID:8578 {source="MONDO:equivalentTo"} xref: ICD10CM:C05.1 {source="DOID:8578", source="MONDO:equivalentTo"} xref: ICD9:145.3 {source="DOID:8578", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -85097,12 +85099,12 @@ name: malignant histiocytosis def: "Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells." [MESH:D015620] synonym: "disorders, malignant histiocytic" RELATED [MESH:D015620] synonym: "histiocytic disorder, malignant" RELATED [MESH:D015620] -synonym: "histiocytic medullary reticulosis" EXACT [DOID:8580, NCIT:C7202] -synonym: "malignant histiocytic disease" EXACT [MONDO:0002346] +synonym: "histiocytic medullary reticulosis" EXACT [NCIT:C7202] +synonym: "malignant histiocytic disease" EXACT [DOID:2570, MONDO:0002346] synonym: "malignant histiocytic disorders" RELATED [MESH:D015620] -synonym: "malignant midline reticulosis" EXACT [DOID:8580] -synonym: "malignant reticulosis" EXACT [DOID:8580] -synonym: "Stewart's granuloma" EXACT [DOID:8580] +synonym: "malignant midline reticulosis" EXACT [] +synonym: "malignant reticulosis" EXACT [] +synonym: "Stewart's granuloma" EXACT [] xref: DOID:2570 {source="MONDO:equivalentTo"} xref: DOID:8580 {source="MONDO:equivalentObsolete"} xref: ICD10CM:C96.A {source="MONDO:relatedTo", source="DOID:8580"} @@ -85128,10 +85130,10 @@ is_a: MONDO:0002637 {source="DOID:2570", source="DOID:8580", source="MESH:D01562 id: MONDO:0004613 name: acute intestinal ischemia def: "Ischemia of the intestine that is rapid in onset." [NCIT:P378] -synonym: "acute gastrointestinal tract vascular insuffic." RELATED EXCLUDE [DOID:8590] -synonym: "acute git vascular insuffic." RELATED EXCLUDE [DOID:8590] +synonym: "acute gastrointestinal tract vascular insuffic." RELATED EXCLUDE [] +synonym: "acute git vascular insuffic." RELATED EXCLUDE [] synonym: "acute intestinal ischemia" EXACT [DOID:8590, NCIT:C34356] -synonym: "acute intestinal vascular insufficiency" NARROW [DOID:8590] +synonym: "acute intestinal vascular insufficiency" NARROW [] xref: DOID:8590 {source="MONDO:equivalentTo"} xref: ICD9:557.0 {source="DOID:8590", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -85181,9 +85183,9 @@ synonym: "gingiva of upper jaw cancer" EXACT [MONDO:patterns/location] synonym: "malignant gingiva of upper jaw neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of gingiva of upper jaw" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of upper gingiva" EXACT [DOID:8601, MTH:U001011] -synonym: "malignant tumor of upper gum" EXACT [DOID:8601] +synonym: "malignant tumor of upper gum" EXACT [] synonym: "malignant tumour of upper gingiva" EXACT OMO:0003005 [] -synonym: "malignant tumour of upper gum" EXACT OMO:0003005 [] +synonym: "malignant tumour of upper gum" EXACT OMO:0003005 [DOID:8601] xref: DOID:8601 {source="MONDO:equivalentTo"} xref: ICD10CM:C03.0 {source="DOID:8601"} xref: ICD9:143.0 {source="DOID:8601", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -85250,7 +85252,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "Measles morbillivirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Measles morbillivirus disease or disorder" EXACT [] synonym: "Measles morbillivirus infectious disease" EXACT [] -synonym: "morbilli" EXACT [DOID:8622] +synonym: "morbilli" EXACT [DOID:8622, ICD10CM:B05, icd11.foundation:1826431497] synonym: "rubeola" RELATED [GARD:0003434] synonym: "rubeola infection" EXACT [NCIT:C96406] xref: DOID:8622 {source="MONDO:equivalentTo"} @@ -85290,14 +85292,14 @@ synonym: "adult lymphocyte depleted Hodgkin's lymphoma" EXACT [NCIT:C9125] synonym: "adult lymphocyte depletion Hodgkin's disease" EXACT [NCIT:C9125] synonym: "Adult lymphocyte-depleted Classic Hodgkin lymphoma" EXACT [NCIT:C9125] synonym: "adult lymphocyte-depleted classical Hodgkin lymphoma" EXACT [NCIT:C9125] -synonym: "classic Hodgkin lymphoma, lymphocyte-depleted type" EXACT [MONDO:0020330] -synonym: "Hodgkin lymphoma, lymphocyte depletion" EXACT [DOID:8628] +synonym: "classic Hodgkin lymphoma, lymphocyte-depleted type" EXACT [MONDO:0020330, Orphanet:98846] +synonym: "Hodgkin lymphoma, lymphocyte depletion" EXACT [DOID:8628, icd11.foundation:1729182645] synonym: "Hodgkin's disease, lymphocytic depletion" EXACT [DOID:8628] -synonym: "Hodgkin's disease, lymphocytic depletion NOS" RELATED EXCLUDE [DOID:8628] -synonym: "Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)" EXACT [DOID:8628] -synonym: "Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites" EXACT [DOID:8628] +synonym: "Hodgkin's disease, lymphocytic depletion NOS" RELATED EXCLUDE [] +synonym: "Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)" EXACT [] +synonym: "Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites" EXACT [] synonym: "Hodgkin's lymphocytic depletion of unspecified site" EXACT [DOID:8628] -synonym: "lymphocyte-depleted classical Hodgkin lymphoma" EXACT [DOID:8628, NCIT:C9283] +synonym: "lymphocyte-depleted classical Hodgkin lymphoma" EXACT [DOID:8628, NCIT:C9125] xref: DOID:8628 {source="MONDO:equivalentTo"} xref: GARD:19594 {source="MONDO:GARD"} xref: ICD10CM:C81.3 {source="DOID:8628", source="Orphanet:98846", source="Orphanet:98846/e"} @@ -85325,7 +85327,7 @@ def: "A malignant neoplasm involving the upper lip." [https://orcid.org/0000-000 synonym: "cancer of upper lip" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of upper lip" EXACT [MONDO:patterns/cancer] synonym: "malignant upper lip neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "upper lip cancer" EXACT [MONDO:patterns/location] +synonym: "upper lip cancer" EXACT [DOID:8630, MONDO:patterns/location] xref: DOID:8630 {source="MONDO:equivalentTo"} xref: ICD10CM:C00.0 {source="DOID:8630"} xref: ICD10CM:C00.3 {source="DOID:8630"} @@ -85382,10 +85384,10 @@ synonym: "malignant tumor of uvula" EXACT [DOID:8635] synonym: "malignant tumour of uvula" EXACT OMO:0003005 [] synonym: "malignant uvula neoplasm" EXACT [NCIT:C35177] synonym: "malignant uvula tumor" EXACT [NCIT:C35177] -synonym: "malignant uvula tumour" EXACT OMO:0003005 [] +synonym: "malignant uvula tumour" EXACT OMO:0003005 [NCIT:C35177] synonym: "malignant uvular neoplasm" EXACT [NCIT:C35177] synonym: "malignant uvular tumor" EXACT [DOID:8635, NCIT:C35177] -synonym: "malignant uvular tumour" EXACT OMO:0003005 [] +synonym: "malignant uvular tumour" EXACT OMO:0003005 [NCIT:C35177] synonym: "palatine uvula cancer" EXACT [MONDO:patterns/location] xref: DOID:8635 {source="MONDO:equivalentTo"} xref: ICD10CM:C05.2 {source="DOID:8635"} @@ -85425,7 +85427,7 @@ intersection_of: disease_has_inflammation_site UBERON:0001638 ! vein [Term] id: MONDO:0004626 name: obsolete Hodgkin's paragranuloma -synonym: "Hodgkin paragranuloma" EXACT [DOID:8642] +synonym: "Hodgkin paragranuloma" EXACT [] xref: DOID:8642 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C26956 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -85438,10 +85440,10 @@ id: MONDO:0004627 name: duodenitis def: "Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "duodenitis" EXACT [] +synonym: "duodenitis" EXACT [DOID:8643, ICD10CM:K29.8, icd11.foundation:1595026136, NCIT:C94409] synonym: "duodenum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "hemorrhagic duodenitis" NARROW [DOID:8643, MTH:NOCODE] -synonym: "inflammation of duodenum" EXACT [] +synonym: "hemorrhagic duodenitis" NARROW [MTH:NOCODE] +synonym: "inflammation of duodenum" EXACT [icd11.foundation:1595026136] xref: DOID:8643 {source="MONDO:equivalentTo"} xref: ICD10CM:K29.8 {source="DOID:8643", source="MONDO:equivalentTo"} xref: icd11.foundation:1595026136 {source="MONDO:equivalentTo"} @@ -85463,8 +85465,8 @@ relationship: disease_has_location UBERON:0002114 ! duodenum id: MONDO:0004628 name: gastroduodenitis synonym: "gastritis and duodenitis" RELATED [] -synonym: "gastroduodenitis" EXACT [] -synonym: "peptic ulcer gastroduodenitis" RELATED [DOID:8644] +synonym: "gastroduodenitis" EXACT [DOID:8644] +synonym: "peptic ulcer gastroduodenitis" RELATED [] xref: DOID:8644 {source="MONDO:equivalentTo"} xref: ICD9:535.4 {source="DOID:8644"} xref: ICD9:535.50 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -85508,40 +85510,40 @@ id: MONDO:0004631 name: tongue cancer def: "A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas." [NCIT:C9345] synonym: "cancer of tongue" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of anterior 2/3 of tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of anterior two-thirds of tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of anterior two-thirds of tongue, part unspecified" NARROW [DOID:8649] -synonym: "malignant neoplasm of base of tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of border of tongue" NARROW [DOID:8649, MTH:U001371] -synonym: "malignant neoplasm of dorsal surface of tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of dorsal tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of dorsal tongue NOS" NARROW [DOID:8649] -synonym: "malignant neoplasm of dorsum of tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of fixed part of tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of fixed part of tongue NOS" NARROW [DOID:8649] -synonym: "malignant neoplasm of junctional zone of tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of lingual tonsil" RELATED DUBIOUS [DOID:8649] -synonym: "malignant neoplasm of mobile part of tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of mobile part of tongue NOS" NARROW [DOID:8649] -synonym: "malignant neoplasm of other sites of tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of the tongue" NARROW [NCIT:C9345] -synonym: "malignant neoplasm of tip and lateral border of tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of tip and/or lateral border of tongue" NARROW [DOID:8649] +synonym: "malignant neoplasm of anterior 2/3 of tongue" NARROW [] +synonym: "malignant neoplasm of anterior two-thirds of tongue" NARROW [] +synonym: "malignant neoplasm of anterior two-thirds of tongue, part unspecified" NARROW [] +synonym: "malignant neoplasm of base of tongue" NARROW [] +synonym: "malignant neoplasm of border of tongue" NARROW [MTH:U001371] +synonym: "malignant neoplasm of dorsal surface of tongue" NARROW [] +synonym: "malignant neoplasm of dorsal tongue" NARROW [] +synonym: "malignant neoplasm of dorsal tongue NOS" NARROW [] +synonym: "malignant neoplasm of dorsum of tongue" NARROW [] +synonym: "malignant neoplasm of fixed part of tongue" NARROW [] +synonym: "malignant neoplasm of fixed part of tongue NOS" NARROW [] +synonym: "malignant neoplasm of junctional zone of tongue" NARROW [] +synonym: "malignant neoplasm of lingual tonsil" RELATED DUBIOUS [] +synonym: "malignant neoplasm of mobile part of tongue" NARROW [] +synonym: "malignant neoplasm of mobile part of tongue NOS" NARROW [] +synonym: "malignant neoplasm of other sites of tongue" NARROW [] +synonym: "malignant neoplasm of the tongue" NARROW [] +synonym: "malignant neoplasm of tip and lateral border of tongue" NARROW [] +synonym: "malignant neoplasm of tip and/or lateral border of tongue" NARROW [] synonym: "malignant neoplasm of tongue" EXACT [DOID:8649, ICD9CM:141, MONDO:patterns/cancer, MTH:NOCODE, NCIT:C9345] -synonym: "malignant neoplasm of tongue NOS" NARROW [DOID:8649] -synonym: "malignant neoplasm of tongue, NOS" NARROW [DOID:8649] -synonym: "malignant neoplasm of tongue, tip and lateral border" NARROW [DOID:8649] -synonym: "malignant neoplasm of ventral surface of tongue" NARROW [DOID:8649] -synonym: "malignant neoplasm of ventral tongue surface" NARROW [DOID:8649] +synonym: "malignant neoplasm of tongue NOS" NARROW [] +synonym: "malignant neoplasm of tongue, NOS" NARROW [] +synonym: "malignant neoplasm of tongue, tip and lateral border" NARROW [] +synonym: "malignant neoplasm of ventral surface of tongue" NARROW [] +synonym: "malignant neoplasm of ventral tongue surface" NARROW [] synonym: "malignant tongue neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9345] synonym: "malignant tongue tumor" EXACT [NCIT:C9345] synonym: "malignant tongue tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of anterior two-thirds of tongue" NARROW [DOID:8649] -synonym: "malignant tumor of base of tongue" NARROW [DOID:8649] -synonym: "malignant tumor of lingual tonsil" NARROW DUBIOUS [DOID:8649, MTH:U001010] -synonym: "malignant tumor of lingual tonsil (disorder)" RELATED DUBIOUS [DOID:8649] -synonym: "malignant tumor of mobile part of tongue" NARROW [DOID:8649] -synonym: "malignant tumor of posterior tongue" NARROW [DOID:8649, NCIT:C3524] +synonym: "malignant tumor of anterior two-thirds of tongue" NARROW [] +synonym: "malignant tumor of base of tongue" NARROW [] +synonym: "malignant tumor of lingual tonsil" NARROW DUBIOUS [MTH:U001010] +synonym: "malignant tumor of lingual tonsil (disorder)" RELATED DUBIOUS [] +synonym: "malignant tumor of mobile part of tongue" NARROW [] +synonym: "malignant tumor of posterior tongue" NARROW [] synonym: "malignant tumor of the tongue" EXACT [NCIT:C9345] synonym: "malignant tumor of tongue" EXACT [NCIT:C9345] synonym: "malignant tumour of anterior two-thirds of tongue" NARROW OMO:0003005 [] @@ -85552,10 +85554,10 @@ synonym: "malignant tumour of mobile part of tongue" NARROW OMO:0003005 [] synonym: "malignant tumour of posterior tongue" NARROW OMO:0003005 [] synonym: "malignant tumour of the tongue" EXACT OMO:0003005 [] synonym: "malignant tumour of tongue" EXACT OMO:0003005 [] -synonym: "tongue cancer" EXACT [MONDO:patterns/location] +synonym: "tongue cancer" EXACT [DOID:8649, MONDO:patterns/location] synonym: "tongue carcinoma" RELATED [GARD:0007779] -synonym: "tongue neoplasm malignant" EXACT [DOID:8649] -synonym: "tongue neoplasm malignant stage unspecified" NARROW [DOID:8649, NCIT:C9345] +synonym: "tongue neoplasm malignant" EXACT [] +synonym: "tongue neoplasm malignant stage unspecified" NARROW [] synonym: "tongue neoplasm, malignant" EXACT [NCIT:C9345] xref: DOID:8649 {source="MONDO:equivalentTo"} xref: ICD10CM:C01 {source="DOID:8649"} @@ -85609,10 +85611,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7779/tongue- id: MONDO:0004632 name: obsolete Hodgkin's granuloma def: "OBSOLETE. An obsolete term referring to Hodgkin lymphoma." [NCIT:C6914] -synonym: "Hodgkin granuloma" EXACT [DOID:8651] -synonym: "Hodgkin's granuloma" EXACT [DOID:8651, NCIT:C6914] -synonym: "Hodgkin's granuloma of unspecified site" EXACT [DOID:8651] -synonym: "Hodgkin's granuloma, unspecified site, extranodal and solid organ sites" EXACT [DOID:8651] +synonym: "Hodgkin granuloma" EXACT [] +synonym: "Hodgkin's granuloma" EXACT [] +synonym: "Hodgkin's granuloma of unspecified site" EXACT [] +synonym: "Hodgkin's granuloma, unspecified site, extranodal and solid organ sites" EXACT [] xref: DOID:8651 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:C81 {source="DOID:8651"} xref: ICD10CM:C81.0 {source="DOID:8651"} @@ -85691,16 +85693,16 @@ subset: ordo_histopathological_subtype {source="Orphanet:98844"} subset: ordo_subtype_of_a_disorder {source="Orphanet:98844"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "classic Hodgkin lymphoma, mixed cellularity type" EXACT [MONDO:0020328] -synonym: "Hodgkin lymphoma, mixed cellularity" EXACT [DOID:8654] +synonym: "classic Hodgkin lymphoma, mixed cellularity type" EXACT [MONDO:0020328, Orphanet:98844] +synonym: "Hodgkin lymphoma, mixed cellularity" EXACT [icd11.foundation:39515681] synonym: "Hodgkin's disease mixed cellularity" EXACT [NCIT:C3517] -synonym: "Hodgkin's disease, mixed cellularity" RELATED [DOID:8654] -synonym: "Hodgkin's disease, mixed cellularity of unspecified site" EXACT [DOID:8654] +synonym: "Hodgkin's disease, mixed cellularity" RELATED [] +synonym: "Hodgkin's disease, mixed cellularity of unspecified site" EXACT [] synonym: "Hodgkin's lymphoma mixed cellularity" EXACT [NCIT:C3517] synonym: "MCCHL" EXACT ABBREVIATION [NCIT:C3517] -synonym: "MCHL" EXACT ABBREVIATION [DOID:8654, NCIT:C3517] +synonym: "MCHL" EXACT ABBREVIATION [NCIT:C3517] synonym: "Mixed cellularity Classic Hodgkin lymphoma" EXACT [NCIT:C3517] -synonym: "mixed cellularity classical Hodgkin lymphoma" EXACT [NCIT:C3517] +synonym: "mixed cellularity classical Hodgkin lymphoma" EXACT [icd11.foundation:39515681, NCIT:C3517] synonym: "mixed cellularity Hodgkin lymphoma" EXACT [NCIT:C3517] synonym: "mixed cellularity Hodgkin's disease" EXACT [NCIT:C3517] synonym: "mixed cellularity Hodgkin's lymphoma" EXACT [NCIT:C3517] @@ -85732,7 +85734,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of vein" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vein" EXACT [] synonym: "disorder of vein" EXACT [MONDO:patterns/location_top] -synonym: "vein disease" EXACT [MONDO:patterns/location] +synonym: "vein disease" EXACT [DOID:866, MONDO:patterns/location] synonym: "vein disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:866 {source="MONDO:equivalentTo"} xref: ICD10CM:I80-I89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -85776,7 +85778,7 @@ is_a: MONDO:0005806 {source="DOID:8660", source="NCIT:C9323"} ! hypopharynx canc id: MONDO:0004636 name: lip carcinoma in situ def: "A in situ carcinoma that involves the lip." [MONDO:patterns/location] -synonym: "carcinoma in situ of lip" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of lip" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4588] synonym: "carcinoma in situ of the Lip" EXACT [NCIT:C4588] synonym: "lip in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 cancer of Lip" EXACT [NCIT:C4588] @@ -85787,7 +85789,7 @@ synonym: "stage 0 Lip cancer" EXACT [NCIT:C4588] synonym: "stage 0 Lip cancer aJCC v6" EXACT [NCIT:C4588] synonym: "stage 0 Lip cancer aJCC v6 and v7" EXACT [NCIT:C4588] synonym: "stage 0 Lip cancer aJCC v7" EXACT [NCIT:C4588] -synonym: "stage 0 lip carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "stage 0 lip carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4588] xref: DOID:8661 {source="MONDO:equivalentTo"} xref: ICD10CM:D00.0 {source="DOID:8661"} xref: ICD9:230.0 {source="DOID:8661"} @@ -85808,7 +85810,7 @@ intersection_of: disease_has_location UBERON:0001833 ! lip id: MONDO:0004637 name: aryepiglottic fold cancer def: "A malignant neoplasm involving the aryepiglottic fold." [https://orcid.org/0000-0002-6601-2165] -synonym: "aryepiglottic fold cancer" EXACT [MONDO:patterns/location] +synonym: "aryepiglottic fold cancer" EXACT [DOID:8663, MONDO:patterns/location] synonym: "cancer of aryepiglottic fold" EXACT [MONDO:patterns/cancer] synonym: "malignant aryepiglottic fold neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of aryepiglottic fold" EXACT [MONDO:patterns/cancer] @@ -85834,10 +85836,10 @@ def: "An antiquated term that refers to a non-Hodgkin lymphoma composed of small subset: gard_rare {source="GARD:6946", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "diffuse lymphoma" EXACT [DOID:8675] +synonym: "diffuse lymphoma" EXACT [] synonym: "lymphosarcoma" EXACT [NCIT:C26919] -synonym: "malignant lymphoma" RELATED EXCLUDE [DOID:8675] -synonym: "malignant lymphoma (category)" RELATED [DOID:8675] +synonym: "malignant lymphoma" RELATED EXCLUDE [] +synonym: "malignant lymphoma (category)" RELATED [] xref: DOID:8675 {source="MONDO:equivalentObsolete"} xref: GARD:6946 {source="MONDO:GARD"} xref: ICD10CM:C85.9 {source="DOID:8675"} @@ -85896,9 +85898,9 @@ name: perinatal necrotizing enterocolitis def: "A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract." [NCIT:C84915] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "enterocolitis necrotizing" BROAD [DOID:8677, MTH:NOCODE] +synonym: "enterocolitis necrotizing" BROAD [MTH:NOCODE] synonym: "enterocolitis, necrotizing" RELATED [GARD:0009767] -synonym: "necrotizing enterocolitis" BROAD [DOID:8677] +synonym: "necrotizing enterocolitis" BROAD [] synonym: "necrotizing enterocolitis in fetus or newborn" EXACT [DOID:8677] synonym: "necrotizing enterocolitis in foetus or newborn" EXACT OMO:0003005 [] synonym: "perinatal necrotising enterocolitis" EXACT [DOID:8677] @@ -85919,7 +85921,7 @@ id: MONDO:0004640 name: alcoholic gastritis def: "Inflammation of the stomach resulting from alcohol ingestion." [NCIT:C26977] subset: otar {source="MONDO:OTAR"} -synonym: "alcoholic gastritis" EXACT [DOID:8680, NCIT:C26977] +synonym: "alcoholic gastritis" EXACT [DOID:8680, ICD10CM:K29.2, icd11.foundation:1081291109, NCIT:C26977] synonym: "alcoholic gastritis, with haemorrhage" EXACT OMO:0003005 [] synonym: "alcoholic gastritis, with hemorrhage" EXACT [DOID:8680] synonym: "alcoholic gastritis, without mention of haemorrhage" EXACT OMO:0003005 [] @@ -85943,17 +85945,17 @@ id: MONDO:0004641 name: skin carcinoma in situ def: "A in situ carcinoma that involves the zone of skin." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} -synonym: "carcinoma in situ of skin" EXACT [DOID:8687, ICD9CM:232, NCIT:C3640] +synonym: "carcinoma in situ of skin" EXACT [ICD10CM:D04, ICD9CM:232, NCIT:C3640] synonym: "carcinoma in situ of the skin" EXACT [NCIT:C3640] synonym: "carcinoma in situ of zone of skin" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "carcinoma of skin stage 0" EXACT [NCIT:C3640] synonym: "carcinoma of the skin stage 0" EXACT [NCIT:C3640] synonym: "cutaneous carcinoma in situ" EXACT [DOID:8687, NCIT:C3640] -synonym: "nonmelanoma carcinoma in situ" EXACT [NCIT:C3640] +synonym: "nonmelanoma carcinoma in situ" EXACT [] synonym: "skin cancer stage 0" EXACT [NCIT:C3640] -synonym: "skin carcinoma in situ" EXACT [NCIT:C3640] +synonym: "skin carcinoma in situ" EXACT [DOID:8687, NCIT:C3640] synonym: "skin carcinoma stage 0" EXACT [NCIT:C3640] -synonym: "stage 0 nonmelanoma skin carcinoma in situ" EXACT [NCIT:C3640] +synonym: "stage 0 nonmelanoma skin carcinoma in situ" EXACT [] synonym: "stage 0 skin cancer" EXACT [NCIT:C3640] synonym: "stage 0 skin cancer aJCC v6" EXACT [NCIT:C3640] synonym: "stage 0 skin cancer aJCC v7" EXACT [NCIT:C3640] @@ -86007,10 +86009,10 @@ intersection_of: disease_has_location UBERON:0000014 ! zone of skin id: MONDO:0004642 name: tonsillar pillar cancer def: "A cancer that involves the tonsillar pillar." [MONDO:patterns/location] -synonym: "malignant neoplasm of tonsillar pillar" EXACT [DOID:8688, MONDO:patterns/location] +synonym: "malignant neoplasm of tonsillar pillar" EXACT [DOID:8688, ICD10CM:C09.1, MONDO:patterns/location] synonym: "malignant neoplasm of tonsillar pillars, posterior" EXACT [DOID:8688, MONDO:patterns/location] synonym: "malignant tumor of tonsillar pillar" EXACT [DOID:8688, MONDO:patterns/location] -synonym: "malignant tumour of tonsillar pillar" EXACT OMO:0003005 [] +synonym: "malignant tumour of tonsillar pillar" EXACT OMO:0003005 [DOID:8688] xref: DOID:8688 {source="MONDO:equivalentTo"} xref: ICD10CM:C09.1 {source="DOID:8688", source="MONDO:equivalentTo"} xref: ICD9:146.2 {source="DOID:8688", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -86034,7 +86036,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "leukaemia granulocytic" EXACT OMO:0003005 [] -synonym: "leukaemia myelogenous" EXACT OMO:0003005 [] +synonym: "leukaemia myelogenous" EXACT OMO:0003005 [DOID:8692] synonym: "leukaemia myeloid" EXACT OMO:0003005 [] synonym: "leukemia granulocytic" EXACT [NCIT:C3172] synonym: "leukemia myelogenous" EXACT [DOID:8692, MTH:NOCODE] @@ -86044,9 +86046,9 @@ synonym: "myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "myelocytic leukemia" EXACT [NCIT:C3172] synonym: "myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "myelogenous leukemia" EXACT [NCIT:C3172] -synonym: "myeloid granulocytic leukaemia" EXACT OMO:0003005 [] +synonym: "myeloid granulocytic leukaemia" EXACT OMO:0003005 [DOID:8692] synonym: "myeloid granulocytic leukemia" EXACT [DOID:8692] -synonym: "myeloid leukemia" EXACT [NCIT:C3172] +synonym: "myeloid leukemia" EXACT [DOID:8692, NCIT:C3172] synonym: "non-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "non-lymphoblastic leukemia" EXACT [NCIT:C3172] synonym: "non-lymphocytic leukaemia" EXACT OMO:0003005 [] @@ -86109,7 +86111,7 @@ synonym: "malignant buccal mucosa tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of buccal mucosa" EXACT [DOID:8702, MONDO:patterns/cancer, NCIT:C9320] synonym: "malignant neoplasm of cheek, inner aspect" EXACT [DOID:8702] synonym: "malignant neoplasm of the buccal mucosa" EXACT [DOID:8702, NCIT:C9320] -synonym: "malignant tumor of buccal mucosa" EXACT [NCIT:C9320] +synonym: "malignant tumor of buccal mucosa" EXACT [DOID:8702, NCIT:C9320] synonym: "malignant tumor of the buccal mucosa" EXACT [NCIT:C9320] synonym: "malignant tumour of buccal mucosa" EXACT OMO:0003005 [] synonym: "malignant tumour of the buccal mucosa" EXACT OMO:0003005 [] @@ -86134,10 +86136,10 @@ synonym: "bedsore" RELATED [DOID:8717] synonym: "decubitus (pressure) ulcer" EXACT [DOID:8717] synonym: "decubitus ulcer" EXACT [DOID:8717] synonym: "decubitus ulcer any site" EXACT [DOID:8717] -synonym: "decubitus ulcer, elbow" EXACT [DOID:8717] -synonym: "decubitus ulcer, lower back" EXACT [DOID:8717] -synonym: "decubitus ulcer, other site" EXACT [DOID:8717] -synonym: "decubitus ulcer, upper back" EXACT [DOID:8717] +synonym: "decubitus ulcer, elbow" EXACT [] +synonym: "decubitus ulcer, lower back" EXACT [] +synonym: "decubitus ulcer, other site" EXACT [] +synonym: "decubitus ulcer, upper back" EXACT [] synonym: "pressure sores" EXACT [DOID:8717, MTH:U000022] synonym: "pressure ulcer" EXACT [DOID:8717] xref: DOID:8717 {source="MONDO:equivalentTo"} @@ -86169,11 +86171,11 @@ comment: Editor note: check pre-malignant vs malignant subset: otar {source="MONDO:OTAR"} synonym: "carcinoma in situ" EXACT [NCIT:C2917] synonym: "carcinoma, in situ, malignant" EXACT [NCIT:C2917] -synonym: "CIS" BROAD ABBREVIATION [NCIT:C2917] +synonym: "CIS" BROAD ABBREVIATION [] synonym: "epithelial tumor, in situ, malignant" EXACT [NCIT:C2917] synonym: "intraepithelial carcinoma" EXACT [NCIT:C2917] synonym: "non-invasive carcinoma" EXACT [NCIT:C2917] -synonym: "stage 0 disease" EXACT [NCIT:C2917] +synonym: "stage 0 disease" EXACT [] xref: DOID:8719 {source="MONDO:equivalentTo"} xref: ICD10CM:D00-D09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:D09.9 {source="DOID:8719"} @@ -86207,9 +86209,9 @@ id: MONDO:0004648 name: vascular dementia def: "A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions." [NCIT:C34525] subset: otar {source="MONDO:OTAR"} -synonym: "multi infarct dementia" NARROW [DOID:8725, MTH:NOCODE, NCIT:C34522] -synonym: "multifocal dementia" RELATED [DOID:8725] -synonym: "vascular dementia" EXACT [NCIT:C34525] +synonym: "multi infarct dementia" NARROW [MTH:NOCODE] +synonym: "multifocal dementia" RELATED [] +synonym: "vascular dementia" EXACT [DOID:8725, NCIT:C34525] xref: DOID:8725 {source="MONDO:equivalentTo"} xref: EFO:0004718 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F01 {source="DOID:8725"} @@ -86260,19 +86262,19 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cancer of carotid body" RELATED [DOID:8731] -synonym: "carotid body cancer" RELATED [DOID:8731] +synonym: "carotid body cancer" RELATED [] synonym: "carotid body paraganglioma, malignant" EXACT [MONDO:patterns/malignant] -synonym: "chemodectoma, malignant" RELATED [NCIT:C3574] -synonym: "malignant carotid body neoplasm" RELATED [NCIT:C3574] +synonym: "chemodectoma, malignant" RELATED [] +synonym: "malignant carotid body neoplasm" RELATED [] synonym: "malignant carotid body paraganglioma" EXACT [DOID:8731, NCIT:C3574] -synonym: "malignant carotid body tumor" RELATED [NCIT:C3574] -synonym: "malignant carotid body tumor (morphologic abnormality)" EXACT [DOID:8731] +synonym: "malignant carotid body tumor" RELATED [] +synonym: "malignant carotid body tumor (morphologic abnormality)" EXACT [] synonym: "malignant carotid body tumour" RELATED OMO:0003005 [] synonym: "malignant carotid body tumour (morphologic abnormality)" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of carotid body" RELATED [NCIT:C3574] -synonym: "malignant neoplasm of the carotid body" RELATED [NCIT:C3574] -synonym: "malignant tumor of carotid body" RELATED [NCIT:C3574] -synonym: "malignant tumor of the carotid body" RELATED [NCIT:C3574] +synonym: "malignant neoplasm of carotid body" RELATED [] +synonym: "malignant neoplasm of the carotid body" RELATED [] +synonym: "malignant tumor of carotid body" RELATED [] +synonym: "malignant tumor of the carotid body" RELATED [] synonym: "malignant tumour of carotid body" RELATED OMO:0003005 [] synonym: "malignant tumour of the carotid body" RELATED OMO:0003005 [] xref: DOID:8731 {source="MONDO:equivalentTo"} @@ -86301,13 +86303,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ordinary smallpox" EXACT [DOID:8736] -synonym: "smallpox virus infection" RELATED [NCIT:C96527] +synonym: "smallpox virus infection" RELATED [] synonym: "Variola" RELATED [GARD:0007444] synonym: "Variola virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Variola virus disease or disorder" EXACT [] -synonym: "variola virus infection" RELATED [NCIT:C96527] +synonym: "variola virus infection" RELATED [] synonym: "Variola virus infectious disease" EXACT [] -synonym: "variola virus VAR infection" RELATED [NCIT:C96527] +synonym: "variola virus VAR infection" RELATED [] xref: DOID:8736 {source="MONDO:equivalentTo"} xref: ICD10CM:B03 {source="DOID:8736", source="MONDO:equivalentTo"} xref: icd11.foundation:2054716425 {source="MONDO:equivalentTo"} @@ -86333,7 +86335,7 @@ name: bacterial pneumonia def: "Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "Bacteria caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Bacteria pneumonia" EXACT [] +synonym: "Bacteria pneumonia" EXACT [icd11.foundation:1323682030] synonym: "gram-negative pneumonia" EXACT [DOID:874] synonym: "pneumonia due to other gram-negative bacteria" EXACT [DOID:874, ICD9CM:482.83] xref: DOID:874 {source="MONDO:equivalentTo"} @@ -86366,18 +86368,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:98824"} subset: orphanet_rare {source="Orphanet:98824"} subset: rare -synonym: "aCML" EXACT [DOID:0060597, NCIT:C3519] -synonym: "atypical chronic myeloid leukaemia" EXACT OMO:0003005 [] -synonym: "atypical chronic myeloid leukaemia BCR-ABL1 negative" EXACT OMO:0003005 [] -synonym: "atypical chronic myeloid leukemia" EXACT [NCIT:C3519] +synonym: "aCML" EXACT ABBREVIATION [DOID:0060597, NCIT:C3519] +synonym: "atypical chronic myeloid leukaemia" EXACT OMO:0003005 [DOID:0060597, icd11.foundation:331838766] +synonym: "atypical chronic myeloid leukaemia BCR-ABL1 negative" EXACT OMO:0003005 [DOID:0060597] +synonym: "atypical chronic myeloid leukemia" EXACT [NCIT:C3519, Orphanet:98824] synonym: "atypical chronic myeloid leukemia BCR-ABL1 negative" EXACT [DOID:0060597] -synonym: "atypical chronic myeloid leukemia, BCR-ABL1 Negative" EXACT [NCIT:C3519] -synonym: "atypical CML" EXACT [DOID:0060597, DOID:8747, NCIT:C3519] +synonym: "atypical chronic myeloid leukemia, BCR-ABL1 Negative" EXACT [DOID:0060597, NCIT:C3519] +synonym: "atypical CML" EXACT [DOID:0060597, NCIT:C3519] synonym: "subacute granulocytic leukaemia" EXACT OMO:0003005 [] -synonym: "subacute granulocytic leukemia" EXACT [DOID:0060597, NCIT:C3519] -synonym: "subacute myelogenous leukaemia" EXACT OMO:0003005 [] -synonym: "subacute myelogenous leukemia" EXACT [DOID:0060597, NCIT:C3519] -synonym: "subacute myeloid leukaemia" EXACT OMO:0003005 [] +synonym: "subacute granulocytic leukemia" EXACT [NCIT:C3519] +synonym: "subacute myelogenous leukaemia" EXACT OMO:0003005 [icd11.foundation:331838766] +synonym: "subacute myelogenous leukemia" EXACT [NCIT:C3519] +synonym: "subacute myeloid leukaemia" EXACT OMO:0003005 [icd11.foundation:331838766] synonym: "subacute myeloid leukemia" EXACT [DOID:0060597, NCIT:C3519, Orphanet:98824] xref: DOID:0060597 {source="MONDO:equivalentTo"} xref: DOID:8747 {source="MONDO:equivalentObsolete"} @@ -86420,7 +86422,7 @@ subset: gard_rare {source="GARD:4742", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "german measles" EXACT [DOID:8781] +synonym: "german measles" EXACT [DOID:8781, icd11.foundation:410022648, NCIT:C85051] synonym: "Rubella infection" EXACT [NCIT:C85051] synonym: "Rubella virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Rubella virus disease or disorder" EXACT [] @@ -86472,7 +86474,7 @@ def: "A in situ carcinoma that involves the breast." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "breast cancer in situ" EXACT [NCIT:C3641] synonym: "breast cancer stage 0" EXACT [NCIT:C3641] -synonym: "breast carcinoma in situ" EXACT [NCIT:C3641] +synonym: "breast carcinoma in situ" EXACT [DOID:8791, NCIT:C3641] synonym: "breast in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "carcinoma in situ of breast" EXACT [DOID:8791, MONDO:patterns/carcinoma_in_situ, NCIT:C3641] synonym: "carcinoma in situ of the breast" EXACT [NCIT:C3641] @@ -86488,7 +86490,7 @@ synonym: "stage 0 breast cancer aJCC v6" EXACT [NCIT:C3641] synonym: "stage 0 breast cancer aJCC v6 and v7" EXACT [NCIT:C3641] synonym: "stage 0 breast cancer aJCC v7" EXACT [NCIT:C3641] synonym: "stage 0 breast carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C3641] -synonym: "stage 0 breast carcinoma in situ" EXACT [NCIT:C3641] +synonym: "stage 0 breast carcinoma in situ" EXACT [] synonym: "stage 0 carcinoma of breast" EXACT [NCIT:C3641] synonym: "stage 0 carcinoma of the breast" EXACT [NCIT:C3641] xref: DOID:8791 {source="MONDO:equivalentTo"} @@ -86536,7 +86538,7 @@ synonym: "stage 0 lung cancer" EXACT [NCIT:C27467] synonym: "stage 0 lung cancer aJCC v6" EXACT [NCIT:C27467] synonym: "stage 0 lung cancer aJCC v6 and v7" EXACT [NCIT:C27467] synonym: "stage 0 lung cancer aJCC v7" EXACT [NCIT:C27467] -synonym: "stage 0 lung carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "stage 0 lung carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C27467] xref: DOID:8800 {source="MONDO:equivalentTo"} xref: ICD10CM:D02.2 {source="DOID:8800"} xref: ICD9:231.2 {source="DOID:8800"} @@ -86556,10 +86558,10 @@ id: MONDO:0004661 name: trachea carcinoma in situ def: "A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion." [NCIT:P378] synonym: "carcinoma in situ of the trachea" EXACT [NCIT:C3639] -synonym: "carcinoma in situ of trachea" EXACT [DOID:8802, MONDO:patterns/carcinoma_in_situ, NCIT:C3639] +synonym: "carcinoma in situ of trachea" EXACT [DOID:8802, ICD10CM:D02.1, MONDO:patterns/carcinoma_in_situ, NCIT:C3639] synonym: "severe epithelial dysplasia of trachea" EXACT [NCIT:C3639] synonym: "stage 0 trachea carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] -synonym: "trachea carcinoma in situ" EXACT [NCIT:C3639] +synonym: "trachea carcinoma in situ" EXACT [DOID:8802, NCIT:C3639] synonym: "trachea in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "tracheal carcinoma in situ" EXACT [DOID:8802, NCIT:C3639] xref: DOID:8802 {source="MONDO:equivalentTo"} @@ -86579,7 +86581,7 @@ intersection_of: disease_has_location UBERON:0003126 ! trachea id: MONDO:0004662 name: heterophyiasis def: "An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." [NCIT:C128389] -synonym: "Heterophyes infection" EXACT [MONDO:patterns/infectious_disease_by_agent] +synonym: "Heterophyes infection" EXACT [icd11.foundation:322536023, MONDO:patterns/infectious_disease_by_agent] synonym: "Heterophyes infectious disease" EXACT [DOID:882] synonym: "infections, Heterophyes" RELATED [MONDO:patterns/infectious_disease_by_agent] xref: DOID:882 {source="MONDO:equivalentTo"} @@ -86601,10 +86603,10 @@ id: MONDO:0004663 name: colon carcinoma in situ def: "A in situ carcinoma that involves the colon." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} -synonym: "carcinoma in situ of colon" EXACT [DOID:8826, MONDO:patterns/carcinoma_in_situ, NCIT:C3638] +synonym: "carcinoma in situ of colon" EXACT [DOID:8826, ICD10CM:D01.0, MONDO:patterns/carcinoma_in_situ, NCIT:C3638] synonym: "carcinoma in situ of the colon" EXACT [NCIT:C3638] synonym: "colon cancer stage 0" EXACT [NCIT:C3638] -synonym: "colon carcinoma in situ" EXACT [NCIT:C3638] +synonym: "colon carcinoma in situ" EXACT [DOID:8826, NCIT:C3638] synonym: "colon in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "colonic carcinoma in situ" EXACT [NCIT:C3638] synonym: "stage 0 carcinoma of colon" EXACT [NCIT:C3638] @@ -86634,10 +86636,10 @@ def: "A parasitic infection characterized by the infestation with worms, mainly comment: Editor note: this is a vague grouping and does not correspond to any one taxon subset: otar {source="MONDO:OTAR"} synonym: "helminth infection" EXACT [DOID:883] -synonym: "helminthiasis" EXACT [NCIT:C84751] +synonym: "helminthiasis" EXACT [DOID:883, NCIT:C84751] synonym: "helminthosis" EXACT [DOID:883] synonym: "parasitic helminthiasis infectious disease" EXACT [DOID:883] -synonym: "worm infection" RELATED [DOID:883] +synonym: "worm infection" RELATED [] xref: DOID:883 {source="MONDO:equivalentTo"} xref: EFO:1001342 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B65-B83 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="DOID:883", source="https://orcid.org/0000-0002-4142-7153"} @@ -86667,22 +86669,22 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:98843"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "classical Hodgkin lymphoma, nodular sclerosis" EXACT [DOID:8838] -synonym: "Hodgkin lymphoma, nodular sclerosis" EXACT [DOID:8838] -synonym: "Hodgkin's disease nodular sclerosis" EXACT [DOID:8838] -synonym: "Hodgkin's disease nodular sclerosis NOS" RELATED EXCLUDE [DOID:8838] -synonym: "Hodgkin's disease, nodular sclerosis" RELATED [DOID:8838] -synonym: "Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)" EXACT [DOID:8838] -synonym: "Hodgkin's disease, nodular sclerosis of unspecified site" EXACT [DOID:8838] -synonym: "Hodgkin's lymphoma, nodular sclerosis" RELATED [DOID:8838] +synonym: "Hodgkin lymphoma, nodular sclerosis" EXACT [icd11.foundation:1995941600] +synonym: "Hodgkin's disease nodular sclerosis" EXACT [] +synonym: "Hodgkin's disease nodular sclerosis NOS" RELATED EXCLUDE [] +synonym: "Hodgkin's disease, nodular sclerosis" RELATED [] +synonym: "Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)" EXACT [] +synonym: "Hodgkin's disease, nodular sclerosis of unspecified site" EXACT [] +synonym: "Hodgkin's lymphoma, nodular sclerosis" RELATED [] synonym: "Hodgkin's nodular sclerosis" EXACT [NCIT:C3518] synonym: "nodular sclerosis Classic Hodgkin lymphoma" EXACT [NCIT:C3518] -synonym: "nodular sclerosis classical Hodgkin lymphoma" EXACT [NCIT:C3518] +synonym: "nodular sclerosis classical Hodgkin lymphoma" EXACT [icd11.foundation:1995941600, NCIT:C3518] synonym: "nodular sclerosis Hodgkin lymphoma" EXACT [MONDO:0005422, NCIT:C3518] synonym: "nodular sclerosis Hodgkin's disease" EXACT [NCIT:C3518] synonym: "nodular sclerosis Hodgkin's lymphoma" EXACT [NCIT:C3518] synonym: "NSCHL" EXACT ABBREVIATION [NCIT:C3518] synonym: "NSHD" EXACT ABBREVIATION [NCIT:C3518] -synonym: "NSHL" EXACT ABBREVIATION [DOID:8838, NCIT:C3518] +synonym: "NSHL" EXACT ABBREVIATION [NCIT:C3518] xref: DOID:8838 {source="MONDO:equivalentTo"} xref: EFO:0004708 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19591 {source="MONDO:GARD"} @@ -86708,7 +86710,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0004666 name: metagonimiasis def: "An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection." [NCIT:C128390] -synonym: "infection by Metagonimus yokogawai" EXACT [DOID:884] +synonym: "infection by Metagonimus yokogawai" EXACT [DOID:884, icd11.foundation:844727447] synonym: "infections, Metagonimus yokogawai" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Metagonimus yokogawai infection" EXACT [GARD:0009745, MONDO:patterns/infectious_disease_by_agent] xref: DOID:884 {source="MONDO:equivalentTo"} @@ -86736,11 +86738,11 @@ synonym: "malignant neoplasm of the sublingual gland" EXACT [NCIT:C3527] synonym: "malignant sublingual gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3527] synonym: "malignant sublingual gland tumor" EXACT [NCIT:C3527] synonym: "malignant sublingual gland tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of sublingual gland" EXACT [NCIT:C3527] +synonym: "malignant tumor of sublingual gland" EXACT [DOID:8849, NCIT:C3527] synonym: "malignant tumor of the sublingual gland" EXACT [DOID:8849, NCIT:C3527] synonym: "malignant tumour of sublingual gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the sublingual gland" EXACT OMO:0003005 [] -synonym: "sublingual gland cancer" EXACT [MONDO:patterns/location] +synonym: "sublingual gland cancer" EXACT [DOID:8849, MONDO:patterns/location] xref: DOID:8849 {source="MONDO:equivalentTo"} xref: ICD10CM:C08.1 {source="DOID:8849"} xref: ICD9:142.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8849"} @@ -86762,10 +86764,10 @@ def: "A parasitic infection that is caused by liver flukes, usually Fasciola hep subset: otar {source="MONDO:OTAR"} synonym: "fasciola hepatica infection" EXACT [DOID:885] synonym: "Fasciolosis" EXACT [NCIT:C128387] -synonym: "infection by fasciola" EXACT [DOID:885] +synonym: "infection by fasciola" EXACT [DOID:885, icd11.foundation:656408831] synonym: "liver flukes" EXACT [DOID:885] -synonym: "liver flukes NOS" RELATED EXCLUDE [DOID:885] -synonym: "sheep liver fluke infection" EXACT [DOID:885] +synonym: "liver flukes NOS" RELATED EXCLUDE [] +synonym: "sheep liver fluke infection" EXACT [DOID:885, icd11.foundation:656408831] xref: DOID:885 {source="MONDO:equivalentTo"} xref: EFO:1001324 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B66.3 {source="DOID:885", source="MONDO:equivalentTo"} @@ -86796,23 +86798,23 @@ subset: otar {source="MONDO:OTAR"} synonym: "cancer of saliva-secreting gland" EXACT [MONDO:patterns/cancer] synonym: "cancer of salivary gland" EXACT [NCIT:C3811] synonym: "cancer of the salivary gland" EXACT [NCIT:C3811] -synonym: "malignant neoplasm of major salivary gland" NARROW [DOID:8850] +synonym: "malignant neoplasm of major salivary gland" NARROW [] synonym: "malignant neoplasm of saliva-secreting gland" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of salivary gland" EXACT [NCIT:C3811] -synonym: "malignant neoplasm of salivary gland duct" EXACT [DOID:8850] +synonym: "malignant neoplasm of salivary gland" EXACT [DOID:8850, NCIT:C3811] +synonym: "malignant neoplasm of salivary gland duct" EXACT [] synonym: "malignant neoplasm of the salivary gland" EXACT [NCIT:C3811] synonym: "malignant saliva-secreting gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant salivary gland neoplasm" EXACT [NCIT:C3811] synonym: "malignant salivary gland tumor" EXACT [NCIT:C3811] synonym: "malignant salivary gland tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of salivary gland" EXACT [NCIT:C3811] -synonym: "malignant tumor of the major salivary gland" NARROW EXCLUDE [DOID:8850] +synonym: "malignant tumor of the major salivary gland" NARROW EXCLUDE [] synonym: "malignant tumor of the salivary gland" EXACT [NCIT:C3811] synonym: "malignant tumour of salivary gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the major salivary gland" NARROW OMO:0003005 [] synonym: "malignant tumour of the salivary gland" EXACT OMO:0003005 [] synonym: "saliva-secreting gland cancer" EXACT [] -synonym: "salivary gland cancer" EXACT [NCIT:C3811] +synonym: "salivary gland cancer" EXACT [DOID:8850, NCIT:C3811] xref: DOID:8850 {source="MONDO:equivalentTo"} xref: ICD10CM:C08 {source="MONDO:equivalentTo", source="DOID:8850"} xref: ICD9:142.8 {source="DOID:8850"} @@ -86835,7 +86837,7 @@ name: lupus erythematosus def: "An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus." [NCIT:C27153] subset: otar {source="MONDO:OTAR"} synonym: "lupus" EXACT [DOID:8857, NCIT:C27153] -synonym: "lupus erythematosus" EXACT [NCIT:C27153] +synonym: "lupus erythematosus" EXACT [DOID:8857, ICD10CM:L93, icd11.foundation:1443317238, NCIT:C27153] xref: DOID:8857 {source="MONDO:equivalentTo"} xref: ICD10CM:L93 {source="DOID:8857", source="MONDO:equivalentTo"} xref: ICD10CM:L93.0 {source="DOID:8857"} @@ -86872,7 +86874,7 @@ synonym: "penile intraepithelial neoplasia grade III" EXACT [DOID:8872] synonym: "penis in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "Queyrat erythroplasia" EXACT [NCIT:C27790] synonym: "Queyrat's erythroplasia" EXACT [DOID:8872, NCIT:C27790] -synonym: "stage 0 penile carcinoma in situ" EXACT [NCIT:C27790] +synonym: "stage 0 penile carcinoma in situ" EXACT [] synonym: "stage 0 penis carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] xref: DOID:8872 {source="MONDO:equivalentTo"} xref: ICD10CM:D00-D09 {source="DOID:8872"} @@ -86925,7 +86927,7 @@ id: MONDO:0004673 name: lower lip cancer def: "A malignant neoplasm involving the lower lip." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of lower lip" EXACT [MONDO:patterns/cancer] -synonym: "lower lip cancer" EXACT [MONDO:patterns/location] +synonym: "lower lip cancer" EXACT [DOID:8883, MONDO:patterns/location] synonym: "malignant lower lip neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of lower lip" EXACT [MONDO:patterns/cancer] xref: DOID:8883 {source="MONDO:equivalentTo"} @@ -86948,7 +86950,7 @@ def: "Inflammation of the distal posterior uveal tract (choroid) and its structu subset: gard_rare {source="GARD:6060", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chorioretinitis" EXACT [MONDO:ambiguous] +synonym: "chorioretinitis" EXACT [DOID:8886, MONDO:ambiguous, NCIT:C110923] synonym: "chorioretinitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "retinochoroiditis" EXACT [DOID:8886] xref: DOID:8886 {source="MONDO:equivalentTo"} @@ -87052,7 +87054,7 @@ id: MONDO:0004679 name: leukoplakia of vagina def: "Leukoplakia of the vagina." [NCIT:P378] synonym: "leukoplakia of the vagina" EXACT [NCIT:C3663] -synonym: "vaginal leukoplakia" EXACT [DOID:8920, NCIT:C3663] +synonym: "vaginal leukoplakia" EXACT [DOID:8920, icd11.foundation:644756612, NCIT:C3663] xref: DOID:8920 {source="MONDO:equivalentTo"} xref: ICD10CM:N89.4 {source="DOID:8920", source="MONDO:equivalentTo"} xref: icd11.foundation:644756612 {source="MONDO:equivalentTo"} @@ -87089,7 +87091,7 @@ name: learning disability def: "A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "Academic skill disorder" EXACT [DOID:8927] -synonym: "learning disorder" EXACT [DOID:8927] +synonym: "learning disorder" EXACT [DOID:8927, NCIT:C89334] xref: DOID:8927 {source="MONDO:equivalentTo"} xref: ICD10CM:F81.9 {source="DOID:8927"} xref: ICD9:315.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -87112,7 +87114,7 @@ name: retromolar area cancer def: "A malignant form of neoplasm of retromolar area." [MONDO:patterns/malignant] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "malignant neoplasm of retromolar area" EXACT [] +synonym: "malignant neoplasm of retromolar area" EXACT [ICD10CM:C06.2] synonym: "malignant tumor of retromolar area" EXACT [DOID:8930] synonym: "malignant tumour of retromolar area" EXACT OMO:0003005 [] synonym: "neoplasm of retromolar area, malignant" EXACT [MONDO:patterns/malignant] @@ -87146,7 +87148,7 @@ subset: rare synonym: "Dupuytren's contracture of foot" EXACT [DOID:8936] synonym: "Ledderhose's disease" EXACT [DOID:8936, NCIT:C4680] synonym: "Lederhose disease" EXACT [GARD:0006873] -synonym: "plantar fascial fibromatosis" RELATED [DOID:8936] +synonym: "plantar fascial fibromatosis" RELATED [] synonym: "plantar fibromatosis" EXACT [NCIT:C4680, Orphanet:199251] synonym: "plantar part of pes superficial Fibromatosis" EXACT [MONDO:patterns/location] synonym: "plantar part of pes superficial fibromatosis" EXACT [MONDO:patterns/location] @@ -87178,7 +87180,7 @@ name: Waldeyer's ring cancer def: "A malignant neoplasm involving the tonsillar ring." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of tonsillar ring" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of tonsillar ring" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of Waldeyer's ring" EXACT [DOID:8937] +synonym: "malignant neoplasm of Waldeyer's ring" EXACT [DOID:8937, ICD10CM:C14.2] synonym: "malignant tonsillar ring neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of Waldeyer's ring" EXACT [DOID:8937] synonym: "malignant tumour of Waldeyer's ring" EXACT OMO:0003005 [] @@ -87203,7 +87205,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial amyloid neuropathy, Finnish type" EXACT [DOID:8943] -synonym: "lattice corneal dystrophy" EXACT [MONDO:ambiguous] +synonym: "lattice corneal dystrophy" EXACT [DOID:8943, icd11.foundation:1247885635, MONDO:ambiguous] synonym: "lattice corneal dystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:8943 {source="MONDO:equivalentTo"} xref: HP:0001149 {source="MONDO:otherHierarchy"} @@ -87222,7 +87224,7 @@ property_value: IAO:0000589 "lattice corneal dystrophy (disease)" xsd:string id: MONDO:0004687 name: severe nonproliferative diabetic retinopathy synonym: "high risk non proliferative diabetic retinopathy" EXACT [DOID:8946] -synonym: "severe nonproliferative diabetic retinopathy" EXACT [] +synonym: "severe nonproliferative diabetic retinopathy" EXACT [DOID:8946, icd11.foundation:561966379] synonym: "severe nonproliferative retinopathy" RELATED [] synonym: "severe NPDR" EXACT [DOID:8946] synonym: "severe npdr" RELATED [] @@ -87249,7 +87251,7 @@ name: inborn metal metabolism disorder def: "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals." [DOID:896, http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "metal metabolism disorder" BROAD [DOID:896] +synonym: "metal metabolism disorder" BROAD [] synonym: "metal metabolism, inborn error" RELATED [MESH:D008664] xref: DOID:896 {source="MONDO:equivalentTo"} xref: MEDGEN:6325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -87262,11 +87264,11 @@ id: MONDO:0004690 name: tonsillar fossa cancer def: "A cancer involving a tonsillar fossa." [MONDO:patterns/cancer] synonym: "cancer of tonsillar fossa" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of tonsillar fossa" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of tonsillar fossa" EXACT [DOID:8969, ICD10CM:C09.0, MONDO:patterns/cancer] synonym: "malignant tonsillar fossa neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of tonsillar fossa" EXACT [DOID:8969, MTH:U001012] synonym: "malignant tumour of tonsillar fossa" EXACT OMO:0003005 [] -synonym: "tonsillar fossa cancer" EXACT [MONDO:patterns/location] +synonym: "tonsillar fossa cancer" EXACT [DOID:8969, MONDO:patterns/location] xref: DOID:8969 {source="MONDO:equivalentTo"} xref: ICD10CM:C09.0 {source="DOID:8969", source="MONDO:equivalentTo"} xref: ICD9:146.1 {source="DOID:8969", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -87290,10 +87292,10 @@ subset: ordo_disorder {source="Orphanet:730"} subset: orphanet_rare {source="Orphanet:730"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADPKD" EXACT ABBREVIATION [Orphanet:730] -synonym: "autosomal dominant polycystic kidney disease" EXACT CLINGEN_LABEL [] -synonym: "congenital biliary ectasias" RELATED [DOID:898] -synonym: "polycystic kidney and hepatic disease 1" RELATED EXCLUDE [DOID:898] +synonym: "ADPKD" EXACT ABBREVIATION [DOID:898, Orphanet:730] +synonym: "autosomal dominant polycystic kidney disease" EXACT CLINGEN_LABEL [DOID:898, icd11.foundation:91220434, NCIT:C84578, Orphanet:730] +synonym: "congenital biliary ectasias" RELATED [] +synonym: "polycystic kidney and hepatic disease 1" RELATED EXCLUDE [] synonym: "polycystic kidney disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:898 {source="MONDO:equivalentTo"} xref: EFO:1001496 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -87340,14 +87342,14 @@ id: MONDO:0004693 name: squamous carcinoma in situ def: "A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues." [NCIT:C27093] subset: otar {source="MONDO:OTAR"} -synonym: "carcinoma in situ of cervix" NARROW [DOID:8991] -synonym: "carcinoma in situ of uterine cervix" NARROW [DOID:8991, MONDO:patterns/carcinoma_in_situ, MTH:NOCODE] +synonym: "carcinoma in situ of cervix" NARROW [] +synonym: "carcinoma in situ of uterine cervix" NARROW [MONDO:patterns/carcinoma_in_situ, MTH:NOCODE] synonym: "carcinoma, squamous cell, in situ, malignant" EXACT [NCIT:C27093] -synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" NARROW [DOID:8991] -synonym: "cervix Ca in situ" NARROW [DOID:8991] -synonym: "CIN III" NARROW [DOID:8991] -synonym: "CIN III - carcinoma in situ of cervix" NARROW [DOID:8991] -synonym: "CIN III - severe dyskaryosis" NARROW [DOID:8991] +synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" NARROW [] +synonym: "cervix Ca in situ" NARROW [] +synonym: "CIN III" NARROW [] +synonym: "CIN III - carcinoma in situ of cervix" NARROW [] +synonym: "CIN III - severe dyskaryosis" NARROW [] synonym: "epidermoid carcinoma in situ" EXACT [NCIT:C27093] synonym: "epidermoid cell carcinoma in situ" EXACT [NCIT:C27093] synonym: "grade 3 SIN" EXACT [NCIT:C27093] @@ -87355,12 +87357,12 @@ synonym: "grade 3 squamous intraepithelial neoplasia" EXACT [NCIT:C27093] synonym: "grade III SIN" EXACT [NCIT:C27093] synonym: "grade III squamous intraepithelial neoplasia" EXACT [NCIT:C27093] synonym: "intraepithelial squamous cell carcinoma" EXACT [NCIT:C27093] -synonym: "severe dysplasia of cervix" NARROW [DOID:8991] -synonym: "severe dysplasia of the cervix uteri" NARROW [DOID:8991, NCIT:C4000] +synonym: "severe dysplasia of cervix" NARROW [] +synonym: "severe dysplasia of the cervix uteri" NARROW [] synonym: "squamous carcinoma in situ" EXACT [NCIT:C27093] synonym: "squamous cell carcinoma in situ" EXACT [NCIT:C27093] synonym: "squamous cell carcinoma in-situ" EXACT [NCIT:C27093] -synonym: "squamous intraepithelial neoplasia, grade III" NARROW [DOID:8991] +synonym: "squamous intraepithelial neoplasia, grade III" NARROW [] synonym: "stage 0 squamous cell carcinoma" EXACT [NCIT:C27093] synonym: "stage 0 uterine cervix carcinoma" NARROW [MONDO:patterns/carcinoma_in_situ] synonym: "uterine cervix in situ carcinoma" NARROW [MONDO:patterns/location] @@ -87402,7 +87404,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hepatic lymphoma" EXACT [NCIT:C4949] -synonym: "liver lymphoma" EXACT [MONDO:patterns/location, NCIT:C4949] +synonym: "liver lymphoma" EXACT [DOID:901, MONDO:patterns/location, NCIT:C4949] synonym: "lymphoma of liver" EXACT [DOID:901, NCIT:C4949] synonym: "lymphoma of the liver" EXACT [NCIT:C4949] synonym: "primary hepatic lymphoma" EXACT [NCIT:C4949] @@ -87421,12 +87423,12 @@ intersection_of: disease_has_location UBERON:0002107 ! liver id: MONDO:0004696 name: larynx carcinoma in situ def: "A in situ carcinoma that involves the larynx." [MONDO:patterns/location] -synonym: "carcinoma in situ of larynx" EXACT [DOID:9011, MONDO:patterns/carcinoma_in_situ, NCIT:C9100] +synonym: "carcinoma in situ of larynx" EXACT [DOID:9011, ICD10CM:D02.0, MONDO:patterns/carcinoma_in_situ, NCIT:C9100] synonym: "carcinoma in situ of the larynx" EXACT [NCIT:C9100] synonym: "laryngeal cancer stage 0" EXACT [NCIT:C9100] synonym: "laryngeal carcinoma in situ" EXACT [NCIT:C9100] synonym: "laryngeal carcinoma stage 0" EXACT [NCIT:C9100] -synonym: "larynx carcinoma in situ" EXACT [NCIT:C9100] +synonym: "larynx carcinoma in situ" EXACT [DOID:9011, NCIT:C9100] synonym: "larynx in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 carcinoma of larynx" EXACT [NCIT:C9100] synonym: "stage 0 carcinoma of the larynx" EXACT [DOID:9011, NCIT:C9100] @@ -87436,7 +87438,7 @@ synonym: "stage 0 laryngeal cancer aJCC v6, v7, and V8" EXACT [NCIT:C9100] synonym: "stage 0 laryngeal cancer aJCC v7" EXACT [NCIT:C9100] synonym: "stage 0 laryngeal cancer aJCC v8" EXACT [NCIT:C9100] synonym: "stage 0 laryngeal carcinoma" EXACT [NCIT:C9100] -synonym: "stage 0 laryngeal carcinoma in situ" EXACT [NCIT:C9100] +synonym: "stage 0 laryngeal carcinoma in situ" EXACT [] synonym: "stage 0 laryngeal throat cancer" EXACT [NCIT:C9100] synonym: "stage 0 larynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C9100] xref: DOID:9011 {source="MONDO:equivalentTo"} @@ -87457,10 +87459,10 @@ name: esophageal leukoplakia def: "A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "esophageal epidermoid metaplasia" EXACT [NCIT:C3953] -synonym: "esophageal leukoplakia" EXACT [MONDO:ambiguous] +synonym: "esophageal leukoplakia" EXACT [DOID:9021, MONDO:ambiguous, NCIT:C3953] synonym: "esophageal leukoplakia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "esophagus leukoplakia" EXACT [NCIT:C3953] -synonym: "leukoplakia of esophagus" EXACT [DOID:9021] +synonym: "leukoplakia of esophagus" EXACT [DOID:9021, NCIT:C3953] synonym: "leukoplakia of oesophagus" EXACT OMO:0003005 [] synonym: "leukoplakia of the esophagus" EXACT [NCIT:C3953] synonym: "leukoplakia of the oesophagus" EXACT OMO:0003005 [] @@ -87505,7 +87507,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "digestive system lymphoma" EXACT [MONDO:patterns/location, NCIT:C38162] -synonym: "gastrointestinal lymphoma" EXACT [NCIT:C38162] +synonym: "gastrointestinal lymphoma" EXACT [DOID:903, NCIT:C38162] synonym: "lymphoma of digestive system" EXACT [MONDO:design_pattern] synonym: "primary digestive system lymphoma" EXACT [NCIT:C38162] synonym: "primary gastrointestinal lymphoma" EXACT [NCIT:C38162] @@ -87540,7 +87542,7 @@ synonym: "malignant parotid neoplasm" EXACT [NCIT:C3525] synonym: "malignant parotid tumor" EXACT [NCIT:C3525] synonym: "malignant parotid tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of parotid" EXACT [NCIT:C3525] -synonym: "malignant tumor of parotid gland" EXACT [NCIT:C3525] +synonym: "malignant tumor of parotid gland" EXACT [DOID:9036, NCIT:C3525] synonym: "malignant tumor of the parotid" EXACT [NCIT:C3525] synonym: "malignant tumor of the parotid gland" EXACT [NCIT:C3525] synonym: "malignant tumour of parotid" EXACT OMO:0003005 [] @@ -87548,7 +87550,7 @@ synonym: "malignant tumour of parotid gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the parotid" EXACT OMO:0003005 [] synonym: "malignant tumour of the parotid gland" EXACT OMO:0003005 [] synonym: "parotid cancer" EXACT [DOID:9036] -synonym: "parotid gland cancer" EXACT [MONDO:patterns/location, NCIT:C3525] +synonym: "parotid gland cancer" EXACT [DOID:9036, MONDO:patterns/location, NCIT:C3525] xref: DOID:9036 {source="MONDO:equivalentTo"} xref: ICD10CM:C07 {source="DOID:9036"} xref: ICD9:142.0 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9036"} @@ -87571,8 +87573,8 @@ name: uterine polyp def: "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "endometrial/uterine polyp" EXACT [DOID:9042] -synonym: "polyp of corpus uteri" EXACT [DOID:9042] -synonym: "polyp of endometrium" NARROW [DOID:9042, NCIT:C6433] +synonym: "polyp of corpus uteri" EXACT [DOID:9042, ICD10CM:N84.0] +synonym: "polyp of endometrium" NARROW [] synonym: "polyp of the uterus" EXACT [DOID:9042, NCIT:C3662] synonym: "polyp of uterus" EXACT [NCIT:C3662] synonym: "polyp, uterus" EXACT [DOID:9042] @@ -87599,9 +87601,9 @@ def: "The presence of whitish patches on the mucosal surface of the cervix. Hist synonym: "cervical leukoplakia" EXACT [NCIT:C3976] synonym: "cervix leukoplakia" EXACT [NCIT:C3976] synonym: "cervix uteri leukoplakia" EXACT [NCIT:C3976] -synonym: "leukoplakia of cervix" EXACT [NCIT:C3976] -synonym: "leukoplakia of cervix (uteri)" EXACT [DOID:9043] -synonym: "leukoplakia of cervix uteri" EXACT [DOID:9043] +synonym: "leukoplakia of cervix" EXACT [DOID:9043, NCIT:C3976] +synonym: "leukoplakia of cervix (uteri)" EXACT [] +synonym: "leukoplakia of cervix uteri" EXACT [DOID:9043, ICD10CM:N88.0, NCIT:C3976] synonym: "leukoplakia of the cervix" EXACT [NCIT:C3976] synonym: "leukoplakia of the cervix uteri" EXACT [NCIT:C3976] synonym: "leukoplakia of the uterine cervix" EXACT [DOID:9043, NCIT:C3976] @@ -87627,7 +87629,7 @@ synonym: "bladder Ca in situ" EXACT [DOID:9053] synonym: "bladder flat carcinoma in situ" EXACT [NCIT:C3644] synonym: "bladder flat CIS" EXACT [NCIT:C3644] synonym: "cancer in situ of urinary bladder" BROAD [https://orcid.org/0000-0002-6601-2165] -synonym: "carcinoma in situ of bladder" EXACT [DOID:9053] +synonym: "carcinoma in situ of bladder" EXACT [DOID:9053, ICD10CM:D09.0] synonym: "carcinoma in situ of the urinary bladder" EXACT [NCIT:C3644] synonym: "carcinoma in situ of urinary bladder" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C3644] synonym: "flat carcinoma in situ of the bladder" EXACT [NCIT:C3644] @@ -87682,7 +87684,7 @@ subset: rare synonym: "fibroma of liver" EXACT [NCIT:C5752] synonym: "fibroma of the liver" EXACT [DOID:907, NCIT:C5752] synonym: "hepatic fibroma" EXACT [NCIT:C5752] -synonym: "liver fibroma" EXACT [MONDO:patterns/location, NCIT:C5752] +synonym: "liver fibroma" EXACT [DOID:907, MONDO:patterns/location, NCIT:C5752] synonym: "liver localised fibrous mesothelioma" EXACT OMO:0003005 [] synonym: "liver localised fibrous tumour" EXACT OMO:0003005 [] synonym: "liver localized fibrous mesothelioma" EXACT [NCIT:C5752] @@ -87718,8 +87720,8 @@ def: "A carcinoma in situ involving a anal canal." [MONDO:patterns/carcinoma_in_ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "anal canal in situ carcinoma" EXACT [MONDO:patterns/location] -synonym: "anal carcinoma in situ" RELATED [DOID:9087] -synonym: "anal carcinoma stage 0" EXACT [DOID:9087, NCIT:C7794] +synonym: "anal carcinoma in situ" RELATED [] +synonym: "anal carcinoma stage 0" EXACT [DOID:9087] synonym: "anal intraepithelial neoplasia grade III" EXACT [DOID:9087] synonym: "carcinoma in situ of anal canal" EXACT [DOID:9087, ICD9CM:230.5, MONDO:patterns/carcinoma_in_situ] synonym: "carcinoma in situ of anus" EXACT [DOID:9087] @@ -87730,7 +87732,7 @@ synonym: "stage 0 anal canal cancer aJCC v7" EXACT [NCIT:C7794] synonym: "stage 0 anal canal carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "stage 0 anal canal carcinoma aJCC v6 and v7" EXACT [NCIT:C7794] synonym: "stage 0 anal carcinoma aJCC v6 and v7" EXACT [NCIT:C7794] -synonym: "stage 0 anal carcinoma in situ" EXACT [NCIT:C7794] +synonym: "stage 0 anal carcinoma in situ" EXACT [] xref: DOID:9087 {source="MONDO:equivalentTo"} xref: ICD9:230.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:230.6 {source="DOID:9087"} @@ -87752,19 +87754,19 @@ name: esophagus carcinoma in situ def: "Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)" [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "carcinoma in situ of esophagus" EXACT [DOID:9095, MONDO:patterns/carcinoma_in_situ] -synonym: "carcinoma in situ of oesophagus" EXACT OMO:0003005 [] +synonym: "carcinoma in situ of esophagus" EXACT [DOID:9095, ICD10CM:D00.1, MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of oesophagus" EXACT OMO:0003005 [DOID:9095] synonym: "esophageal carcinoma in situ" EXACT [NCIT:C89771] synonym: "esophageal carcinoma in situ aJCC v7" EXACT [NCIT:C89771] synonym: "esophagus in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "oesophagus in situ carcinoma" EXACT OMO:0003005 [] synonym: "severe esophageal dysplasia" EXACT [DOID:9095, NCIT:C89771] synonym: "severe esophageal dysplasia aJCC v7" EXACT [NCIT:C89771] -synonym: "stage 0 carcinoma of the esophagus" EXACT [DOID:9095, NCIT:C3637] -synonym: "stage 0 carcinoma of the oesophagus" EXACT OMO:0003005 [] +synonym: "stage 0 carcinoma of the esophagus" EXACT [DOID:9095] +synonym: "stage 0 carcinoma of the oesophagus" EXACT OMO:0003005 [DOID:9095] synonym: "stage 0 esophageal cancer" EXACT [NCIT:C89771] synonym: "stage 0 esophageal cancer aJCC v7" EXACT [NCIT:C89771] -synonym: "stage 0 esophageal carcinoma in situ" EXACT [NCIT:C89771] +synonym: "stage 0 esophageal carcinoma in situ" EXACT [] synonym: "stage 0 esophagus carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "stage 0 oesophagus carcinoma" EXACT OMO:0003005 [] xref: DOID:9095 {source="MONDO:equivalentTo"} @@ -87785,10 +87787,10 @@ intersection_of: disease_has_location UBERON:0001043 ! esophagus id: MONDO:0004709 name: occipital lobe neoplasm def: "A neoplasm involving a occipital lobe." [MONDO:patterns/neoplasm] -synonym: "malignant neoplasm of occipital lobe" EXACT [DOID:910] -synonym: "neoplasm of occipital lobe" EXACT [MONDO:patterns/neoplasm, NCIT:C5574] +synonym: "malignant neoplasm of occipital lobe" EXACT [DOID:910, ICD10CM:C71.4] +synonym: "neoplasm of occipital lobe" EXACT [DOID:910, MONDO:patterns/neoplasm, NCIT:C5574] synonym: "neoplasm of the occipital lobe" EXACT [NCIT:C5574] -synonym: "occipital lobe neoplasm" EXACT [NCIT:C5574] +synonym: "occipital lobe neoplasm" EXACT [DOID:910, NCIT:C5574] synonym: "occipital lobe neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "occipital lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5574] synonym: "occipital lobe tumour" EXACT OMO:0003005 [] @@ -87841,14 +87843,14 @@ replaced_by: MONDO:0019065 id: MONDO:0004712 name: herpes simplex dermatitis def: "Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection." [NCIT:C35620] -synonym: "eczema herpeticum" RELATED [DOID:9123] -synonym: "eczema herpeticum (disorder) [ambiguous]" EXACT [DOID:9123] -synonym: "Herpes simplex dermatitis" EXACT [NCIT:C35620] -synonym: "herpes simplex dermatitis" EXACT [DOID:9123] -synonym: "Herpes simplex dermatitis of eyelid" NARROW [DOID:9123] -synonym: "Herpes simplex eyelid dermatitis" NARROW [DOID:9123] +synonym: "eczema herpeticum" RELATED [] +synonym: "eczema herpeticum (disorder) [ambiguous]" EXACT [] +synonym: "Herpes simplex dermatitis" EXACT [DOID:9123, NCIT:C35620] +synonym: "herpes simplex dermatitis" EXACT [DOID:9123, NCIT:C35620] +synonym: "Herpes simplex dermatitis of eyelid" NARROW [] +synonym: "Herpes simplex eyelid dermatitis" NARROW [] synonym: "Herpes simplex virus dermatitis" EXACT [DOID:9123] -synonym: "herpes simplex virus eyelid dermatitis" NARROW [DOID:9123] +synonym: "herpes simplex virus eyelid dermatitis" NARROW [] synonym: "Simplexvirus caused dermatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Simplexvirus dermatitis" EXACT [] xref: DOID:9123 {source="MONDO:equivalentTo"} @@ -87882,9 +87884,9 @@ synonym: "gingiva of lower jaw cancer" EXACT [MONDO:patterns/location] synonym: "malignant gingiva of lower jaw neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of gingiva of lower jaw" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of lower gingiva" EXACT [DOID:9125] -synonym: "malignant tumor of lower gum" EXACT [DOID:9125] +synonym: "malignant tumor of lower gum" EXACT [] synonym: "malignant tumour of lower gingiva" EXACT OMO:0003005 [] -synonym: "malignant tumour of lower gum" EXACT OMO:0003005 [] +synonym: "malignant tumour of lower gum" EXACT OMO:0003005 [DOID:9125] xref: DOID:9125 {source="MONDO:equivalentTo"} xref: ICD10CM:C03.1 {source="DOID:9125"} xref: ICD9:143.1 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9125"} @@ -87919,7 +87921,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "carcinoma in situ of liver" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "carcinoma in situ of liver and biliary system" EXACT [DOID:9132] -synonym: "carcinoma in situ of liver, gallbladder and bile ducts" EXACT [DOID:9132, MTH:U001402] +synonym: "carcinoma in situ of liver, gallbladder and bile ducts" EXACT [DOID:9132, ICD10CM:D01.5, MTH:U001402] synonym: "liver in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 liver carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] xref: DOID:9132 {source="MONDO:equivalentTo"} @@ -87939,7 +87941,7 @@ intersection_of: disease_has_location UBERON:0002107 ! liver id: MONDO:0004716 name: stomach carcinoma in situ def: "A in situ carcinoma that involves the stomach." [MONDO:patterns/location] -synonym: "carcinoma in situ of stomach" EXACT [DOID:9138, MONDO:patterns/carcinoma_in_situ, NCIT:C7788] +synonym: "carcinoma in situ of stomach" EXACT [DOID:9138, ICD10CM:D00.2, MONDO:patterns/carcinoma_in_situ, NCIT:C7788] synonym: "carcinoma in situ of the stomach" EXACT [NCIT:C7788] synonym: "carcinoma of stomach stage 0" EXACT [NCIT:C7788] synonym: "carcinoma of the stomach stage 0" EXACT [NCIT:C7788] @@ -87954,10 +87956,10 @@ synonym: "stage 0 gastric cancer aJCC v6" EXACT [NCIT:C7788] synonym: "stage 0 gastric cancer aJCC v6 and v7" EXACT [NCIT:C7788] synonym: "stage 0 gastric cancer aJCC v7" EXACT [NCIT:C7788] synonym: "stage 0 gastric carcinoma" EXACT [NCIT:C7788] -synonym: "stage 0 gastric carcinoma in situ" EXACT [NCIT:C7788] +synonym: "stage 0 gastric carcinoma in situ" EXACT [] synonym: "stage 0 stomach cancer" EXACT [NCIT:C7788] synonym: "stage 0 stomach carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C7788] -synonym: "stomach carcinoma in situ" EXACT [NCIT:C7788] +synonym: "stomach carcinoma in situ" EXACT [DOID:9138, NCIT:C7788] synonym: "stomach carcinoma stage 0" EXACT [NCIT:C7788] synonym: "stomach in situ carcinoma" EXACT [MONDO:patterns/location] xref: DOID:9138 {source="MONDO:equivalentTo"} @@ -87977,7 +87979,7 @@ id: MONDO:0004717 name: peliosis hepatis def: "A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs." [MESH:D010382] subset: otar {source="MONDO:OTAR"} -synonym: "hepatic peliosis" EXACT [DOID:914] +synonym: "hepatic peliosis" EXACT [DOID:914, icd11.foundation:1210061614] xref: DOID:914 {source="MONDO:equivalentTo"} xref: EFO:1001387 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K76.4 {source="DOID:914", source="MONDO:equivalentTo"} @@ -88007,16 +88009,16 @@ id: MONDO:0004719 name: hard palate cancer def: "A malignant neoplasm involving the hard palate." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of hard palate" EXACT [MONDO:patterns/cancer] -synonym: "hard palate" EXACT [DOID:9149, NCIT:C12230] -synonym: "hard palate cancer" EXACT [MONDO:patterns/location] -synonym: "malignant hard palate neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "hard palate" EXACT [] +synonym: "hard palate cancer" EXACT [DOID:9149, MONDO:patterns/location] +synonym: "malignant hard palate neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3528] synonym: "malignant hard palate tumor" EXACT [NCIT:C3528] synonym: "malignant hard palate tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of hard palate" EXACT [DOID:9149, MONDO:patterns/cancer, MTH:U001235] +synonym: "malignant neoplasm of hard palate" EXACT [DOID:9149, ICD10CM:C05.0, MONDO:patterns/cancer, MTH:U001235, NCIT:C3528] synonym: "malignant neoplasm of the hard palate" EXACT [NCIT:C3528] synonym: "malignant tumor of hard palate" EXACT [DOID:9149, NCIT:C3528] -synonym: "malignant tumor of the hard palate" EXACT [DOID:9149, NCIT:C3528] -synonym: "malignant tumour of hard palate" EXACT OMO:0003005 [] +synonym: "malignant tumor of the hard palate" EXACT [NCIT:C3528] +synonym: "malignant tumour of hard palate" EXACT OMO:0003005 [DOID:9149] synonym: "malignant tumour of the hard palate" EXACT OMO:0003005 [] xref: DOID:9149 {source="MONDO:equivalentTo"} xref: ICD10CM:C05.0 {source="DOID:9149", source="MONDO:equivalentTo"} @@ -88036,7 +88038,7 @@ name: variola minor infection def: "A orthopoxvirus that causes a milder clinical syndrome than smallpox." [NCIT:P378] subset: inferred_rare subset: rare -synonym: "alastrim" EXACT [DOID:9153] +synonym: "alastrim" EXACT [DOID:9153, NCIT:C34365] synonym: "cottonpox" EXACT [DOID:9153] synonym: "milkpox" EXACT [DOID:9153] synonym: "Variola minor" EXACT [DOID:9153] @@ -88073,7 +88075,7 @@ def: "A benign smooth muscle neoplasm arising from the liver. It is characterize synonym: "hepatic leiomyoma" EXACT [NCIT:C5753] synonym: "leiomyoma of liver" EXACT [NCIT:C5753] synonym: "leiomyoma of the liver" EXACT [DOID:917, NCIT:C5753] -synonym: "liver leiomyoma" EXACT [MONDO:patterns/location, NCIT:C5753] +synonym: "liver leiomyoma" EXACT [DOID:917, MONDO:patterns/location, NCIT:C5753] xref: DOID:917 {source="MONDO:equivalentTo"} xref: MEDGEN:232276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5753 {source="MONDO:equivalentTo", source="DOID:917", source="MONDO:exact-label-match"} @@ -88098,10 +88100,10 @@ synonym: "malignant neoplasm of submandibular gland" EXACT [MONDO:patterns/cance synonym: "malignant neoplasm of submaxillary gland" EXACT [DOID:9173] synonym: "malignant submandibular gland neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of submandibular gland" EXACT [DOID:9173] -synonym: "malignant tumor of the submandibular gland" EXACT [DOID:9173, NCIT:C3526] +synonym: "malignant tumor of the submandibular gland" EXACT [DOID:9173] synonym: "malignant tumour of submandibular gland" EXACT OMO:0003005 [] synonym: "malignant tumour of the submandibular gland" EXACT OMO:0003005 [] -synonym: "submandibular gland cancer" EXACT [MONDO:patterns/location, NCIT:C8396] +synonym: "submandibular gland cancer" EXACT [DOID:9173, MONDO:patterns/location, NCIT:C8396] synonym: "submandibular gland carcinoma" EXACT [NCIT:C8396] xref: DOID:9173 {source="MONDO:equivalentTo"} xref: ICD10CM:C08.0 {source="DOID:9173"} @@ -88124,7 +88126,7 @@ id: MONDO:0004725 name: rectum carcinoma in situ def: "A in situ carcinoma that involves the rectum." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} -synonym: "carcinoma in situ of rectum" EXACT [DOID:9174, MONDO:patterns/carcinoma_in_situ, NCIT:C4853] +synonym: "carcinoma in situ of rectum" EXACT [DOID:9174, ICD10CM:D01.2, MONDO:patterns/carcinoma_in_situ, NCIT:C4853] synonym: "carcinoma in situ of the rectum" EXACT [NCIT:C4853] synonym: "marked dysplasia of rectum" EXACT [NCIT:C4853] synonym: "marked dysplasia of the rectum" EXACT [NCIT:C4853] @@ -88163,10 +88165,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hepatic inflammatory myofibroblastic tumor" EXACT [NCIT:C5858] synonym: "hepatic inflammatory myofibroblastic tumour" EXACT OMO:0003005 [] -synonym: "inflammatory pseudotumor of liver" RELATED [NCIT:C5858] -synonym: "inflammatory pseudotumor of the liver" RELATED [DOID:918, NCIT:C5858] +synonym: "inflammatory pseudotumor of liver" RELATED [] +synonym: "inflammatory pseudotumor of the liver" RELATED [] synonym: "liver inflammatory myofibroblastic tumor" EXACT [MONDO:0006269, MONDO:patterns/location, NCIT:C5858] -synonym: "liver inflammatory pseudotumor" BROAD [NCIT:C5858] +synonym: "liver inflammatory pseudotumor" BROAD [] xref: DOID:918 {source="MONDO:equivalentTo"} xref: MEDGEN:232275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5858 {source="MONDO:equivalentTo", source="EFO:1000324", source="DOID:918"} @@ -88184,7 +88186,7 @@ name: vestibule of mouth cancer def: "A cancer that involves the oral opening." [MONDO:patterns/location] synonym: "cancer of oral opening" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of oral opening" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of vestibule of mouth" EXACT [DOID:9188] +synonym: "malignant neoplasm of vestibule of mouth" EXACT [DOID:9188, ICD10CM:C06.1] synonym: "malignant oral opening neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of vestibule of mouth" EXACT [DOID:9188, MTH:U001025] synonym: "malignant tumour of vestibule of mouth" EXACT OMO:0003005 [] @@ -88217,7 +88219,7 @@ is_a: MONDO:0005266 {source="DOID:9191"} ! diabetic retinopathy id: MONDO:0004729 name: dyskinesia of esophagus def: "Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)." [MESH:D015154] -synonym: "dyskinesia of esophagus" EXACT [DOID:9192] +synonym: "dyskinesia of esophagus" EXACT [DOID:9192, ICD10CM:K22.4] synonym: "esophageal dysmotility" EXACT [DOID:9192] synonym: "esophageal motility disorder" EXACT [DOID:9192, MTH:NOCODE] synonym: "oesophageal dysmotility" EXACT [DOID:9192] @@ -88270,7 +88272,7 @@ synonym: "central alveolar hypoventilation syndrome" RELATED [MESH:D020182] synonym: "central apnea" RELATED [MESH:D020182] synonym: "central Apneas" RELATED [MESH:D020182] synonym: "central sleep apnea" RELATED [MESH:D020182] -synonym: "central sleep apnea syndrome" EXACT [DOID:9220, MESH:D020182, NCIT:C27169] +synonym: "central sleep apnea syndrome" EXACT [MESH:D020182, NCIT:C27169] synonym: "central sleep apnea, primary" NARROW [MESH:D020182] synonym: "central sleep apnea, secondary" RELATED [MESH:D020182] synonym: "central sleep Apneas" RELATED [MESH:D020182] @@ -88280,7 +88282,7 @@ synonym: "central sleep-disordered Breathings" RELATED [MESH:D020182] synonym: "hypoventilation, central alveolar" RELATED [MESH:D020182] synonym: "hypoventilations, central alveolar" RELATED [MESH:D020182] synonym: "ondine syndrome" RELATED [MESH:D020182] -synonym: "primary central sleep apnea" NARROW [DOID:9220] +synonym: "primary central sleep apnea" NARROW [] synonym: "secondary central sleep apnea" NARROW [MESH:D020182] synonym: "sleep apnea, lethal central" RELATED [MESH:D020182] synonym: "sleep Apneas, central" RELATED [MESH:D020182] @@ -88321,8 +88323,8 @@ intersection_of: disease_has_location UBERON:0002113 ! kidney id: MONDO:0004733 name: pyriform sinus cancer def: "A primary or metastatic malignant neoplasm that affects the pyriform sinus." [NCIT:P378] -synonym: "malignant neoplasm of pyriform fossa" EXACT [DOID:9235] -synonym: "malignant neoplasm of pyriform sinus" EXACT [NCIT:C3531] +synonym: "malignant neoplasm of pyriform fossa" EXACT [DOID:9235, ICD10CM:C12, NCIT:C3531] +synonym: "malignant neoplasm of pyriform sinus" EXACT [ICD10CM:C12, NCIT:C3531] synonym: "malignant neoplasm of the pyriform fossa" EXACT [DOID:9235, NCIT:C3531] synonym: "malignant neoplasm of the pyriform sinus" EXACT [NCIT:C3531] synonym: "malignant pyriform fossa neoplasm" EXACT [NCIT:C3531] @@ -88331,7 +88333,7 @@ synonym: "malignant pyriform fossa tumour" EXACT OMO:0003005 [] synonym: "malignant pyriform sinus neoplasm" EXACT [NCIT:C3531] synonym: "malignant pyriform sinus tumor" EXACT [NCIT:C3531] synonym: "malignant pyriform sinus tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of pyriform fossa" EXACT [NCIT:C3531] +synonym: "malignant tumor of pyriform fossa" EXACT [DOID:9235, NCIT:C3531] synonym: "malignant tumor of pyriform sinus" EXACT [NCIT:C3531] synonym: "malignant tumor of the pyriform fossa" EXACT [NCIT:C3531] synonym: "malignant tumor of the pyriform sinus" EXACT [NCIT:C3531] @@ -88366,7 +88368,7 @@ name: inborn disorder of amino acid metabolism def: "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria." [NCIT:P378] subset: gard_rare {source="GARD:6770", source="MONDO:GARD"} subset: rare -synonym: "amino acid metabolic disorder" RELATED [DOID:9252] +synonym: "amino acid metabolic disorder" RELATED [] synonym: "amino acid metabolism, inborn errors" RELATED [GARD:0006770] synonym: "inborn amino acid metabolism disorder" RELATED [GARD:0006770] synonym: "inborn cellular amino acid metabolic process disorder" EXACT [] @@ -88396,10 +88398,10 @@ def: "An autosomal recessive inherited metabolic disorder caused by mutations in subset: gard_rare {source="GARD:10770", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CBS deficiency" NARROW [DOID:9263] -synonym: "cystathionine beta synthase deficiency" NARROW [DOID:9263] -synonym: "cystathionine synthase deficiency" NARROW [DOID:9263] -synonym: "homocystinuria" EXACT [MONDO:ambiguous] +synonym: "CBS deficiency" NARROW [] +synonym: "cystathionine beta synthase deficiency" NARROW [] +synonym: "cystathionine synthase deficiency" NARROW [] +synonym: "homocystinuria" EXACT [DOID:9263, ICD10CM:E72.11, MONDO:ambiguous, NCIT:C84765] synonym: "homocystinuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:9263 {source="MONDO:equivalentTo"} xref: GARD:10770 {source="MONDO:GARD"} @@ -88437,8 +88439,8 @@ subset: ordo_group_of_disorders {source="Orphanet:79167"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" EXACT [DOID:9267] -synonym: "disorder of urea cycle metabolism" EXACT [DOID:9267, ICD9CM:270.6] -synonym: "disorder of urea cycle metabolism and ammonia detoxification" RELATED [Orphanet:79167] +synonym: "disorder of urea cycle metabolism" EXACT [DOID:9267, ICD9CM:270.6, NCIT:C84785] +synonym: "disorder of urea cycle metabolism and ammonia detoxification" RELATED [] synonym: "inborn disorder of urea cycle metabolism and ammonia detoxification" EXACT [MONDO:0019217] synonym: "inborn urea cycle disorder" EXACT [NCIT:C84785] synonym: "UCD" RELATED ABBREVIATION [GARD:0007837] @@ -88513,8 +88515,8 @@ name: hyperhomocysteinemia def: "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents." [NCIT:P378] subset: gard_rare {source="GARD:8230", source="MONDO:GARD"} subset: rare -synonym: "homocysteinemia" EXACT [OMIM:603174] -synonym: "hyperhomocysteinemia" EXACT [OMIM:603174] +synonym: "homocysteinemia" EXACT [] +synonym: "hyperhomocysteinemia" EXACT [DOID:9279, NCIT:C84770, OMIM:603174] xref: DOID:9279 {source="MONDO:equivalentTo"} xref: GARD:8230 {source="MONDO:GARD"} xref: MEDGEN:108623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -88555,8 +88557,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:140949"} subset: orphanet_rare {source="Orphanet:140949"} subset: rare -synonym: "low-flow priapism" NARROW [Orphanet:140949] -synonym: "mentulagra" EXACT [DOID:9286] +synonym: "low-flow priapism" NARROW [] +synonym: "mentulagra" EXACT [DOID:9286, icd11.foundation:1983776037] xref: DOID:9286 {source="MONDO:equivalentTo"} xref: GARD:19933 {source="MONDO:GARD"} xref: ICD10CM:N48.3 {source="MONDO:equivalentTo", source="DOID:9286"} @@ -88599,8 +88601,8 @@ intersection_of: disease_has_location UBERON:0001601 ! extra-ocular muscle id: MONDO:0004747 name: cleft lip def: "A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse." [NCIT:P378] -synonym: "cheiloschisis" EXACT [DOID:9296] -synonym: "cleft lip" EXACT [MONDO:ambiguous] +synonym: "cheiloschisis" EXACT [DOID:9296, NCIT:C87175] +synonym: "cleft lip" EXACT [DOID:9296, MONDO:ambiguous, NCIT:C87175] synonym: "cleft lip (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cleft lip, unilateral, complete" EXACT [DOID:9296, ICD9CM:749.11] synonym: "complete unilateral cleft lip" EXACT [DOID:9296] @@ -88634,7 +88636,7 @@ synonym: "disease of lip" EXACT [MONDO:patterns/location_top] synonym: "disease of lips" EXACT [DOID:9297, ICD9CM:528.5] synonym: "disease or disorder of lip" EXACT [] synonym: "disorder of lip" EXACT [MONDO:patterns/location_top] -synonym: "lip disease" EXACT [MONDO:patterns/location] +synonym: "lip disease" EXACT [DOID:9297, MONDO:patterns/location, NCIT:C26818] synonym: "lip disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lip disorder" EXACT [NCIT:C26818] xref: DOID:9297 {source="MONDO:equivalentTo"} @@ -88665,8 +88667,8 @@ synonym: "malignant tumor of myocardium" EXACT [NCIT:C4569] synonym: "malignant tumor of the myocardium" EXACT [NCIT:C4569] synonym: "malignant tumour of myocardium" EXACT OMO:0003005 [] synonym: "malignant tumour of the myocardium" EXACT OMO:0003005 [] -synonym: "myocardium cancer" EXACT [MONDO:patterns/location] -synonym: "tumor of myocardium" BROAD [DOID:9299, NCIT:C5349] +synonym: "myocardium cancer" EXACT [DOID:9299, MONDO:patterns/location] +synonym: "tumor of myocardium" BROAD [] synonym: "tumour of myocardium" BROAD OMO:0003005 [] xref: DOID:9299 {source="MONDO:equivalentTo"} xref: MEDGEN:138067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -88702,7 +88704,7 @@ name: disease of orbital part of eye adnexa def: "Diseases of the bony orbit and contents except the eyeball." [MESH:D009916] comment: Editor note: check this. MESH and DOID excludes eyeball which would make equivalent to adnexa subset: otar {source="MONDO:OTAR"} -synonym: "orbital disease" RELATED [DOID:930] +synonym: "orbital disease" RELATED [] xref: DOID:930 {source="MONDO:equivalentTo"} xref: ICD10CM:H05 {source="DOID:930"} xref: ICD10CM:H05.9 {source="DOID:930"} @@ -88726,7 +88728,7 @@ subset: rare synonym: "Cardiac neurofibroma" EXACT [NCIT:C5359] synonym: "heart neurofibroma" EXACT [MONDO:patterns/location, NCIT:C5359] synonym: "neurofibroma of heart" EXACT [DOID:9300, NCIT:C5359] -synonym: "neurofibroma of the heart" EXACT [NCIT:C5359] +synonym: "neurofibroma of the heart" EXACT [DOID:9300, NCIT:C5359] xref: DOID:9300 {source="MONDO:equivalentTo"} xref: MEDGEN:242755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5359 {source="MONDO:equivalentTo", source="DOID:9300"} @@ -88759,7 +88761,7 @@ id: MONDO:0004754 name: rectal prolapse def: "Protrusion of the rectum through the anus." [NCIT:P378] synonym: "procidentia, rectum" EXACT [DOID:9307] -synonym: "rectal prolapse" EXACT [MONDO:ambiguous] +synonym: "rectal prolapse" EXACT [DOID:9307, ICD10CM:K62.3, icd11.foundation:231914102, MONDO:ambiguous, NCIT:C34973] synonym: "rectal prolapse (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:9307 {source="MONDO:equivalentTo"} xref: HP:0002035 {source="MONDO:otherHierarchy"} @@ -88797,7 +88799,7 @@ synonym: "nasal cavity neoplasm" EXACT [NCIT:C4413] synonym: "nasal cavity neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nasal cavity tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4413] synonym: "nasal cavity tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of nasal cavity" EXACT [MONDO:patterns/neoplasm, NCIT:C4413] +synonym: "neoplasm of nasal cavity" EXACT [DOID:9310, MONDO:patterns/neoplasm, NCIT:C4413] synonym: "neoplasm of the nasal cavity" EXACT [NCIT:C4413] synonym: "tumor of nasal cavity" EXACT [MONDO:patterns/neoplasm, NCIT:C4413] synonym: "tumor of the nasal cavity" EXACT [DOID:9310, NCIT:C4413] @@ -88818,8 +88820,8 @@ id: MONDO:0004757 name: chronic ethmoidal sinusitis def: "Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." [NCIT:C34472] synonym: "chronic ethmoid sinusitis" EXACT [DOID:9312] -synonym: "chronic ethmoidal sinusitis" EXACT [DOID:9312, NCIT:C34472] -synonym: "chronic ethmoiditis" RELATED [DOID:9312] +synonym: "chronic ethmoidal sinusitis" EXACT [DOID:9312, ICD10CM:J32.2, icd11.foundation:1076459084, NCIT:C34472] +synonym: "chronic ethmoiditis" RELATED [] synonym: "ethmoid sinusitis, chronic" EXACT [MONDO:patterns/chronic] synonym: "ethmoidal sinusitis - chronic" EXACT [DOID:9312] xref: DOID:9312 {source="MONDO:equivalentTo"} @@ -88847,7 +88849,7 @@ synonym: "enlarged blind spot" EXACT [DOID:9335] synonym: "enlarged paracaecal scotoma" EXACT [DOID:9335] synonym: "generalised visual field contraction or constriction" EXACT OMO:0003005 [] synonym: "generalized visual field contraction or constriction" EXACT [DOID:9335] -synonym: "scotoma" EXACT [MONDO:ambiguous] +synonym: "scotoma" EXACT [DOID:9335, MONDO:ambiguous] synonym: "scotoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "scotoma of blind spot area" EXACT [DOID:9335, ICD9CM:368.42] synonym: "sector or arcuate visual field defects" EXACT [DOID:9335] @@ -88927,7 +88929,7 @@ is_a: MONDO:0002654 {source="DOID:9346"} ! uterine disorder id: MONDO:0004763 name: carotid artery dissection def: "Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke." [NCIT:C125662] -synonym: "dissection of carotid artery" EXACT [DOID:9348, ICD9CM:443.21] +synonym: "dissection of carotid artery" EXACT [DOID:9348, ICD10CM:I77.71, ICD9CM:443.21] xref: DOID:9348 {source="MONDO:equivalentTo"} xref: ICD10CM:I77.71 {source="DOID:9348", source="MONDO:equivalentTo"} xref: ICD9:443.21 {source="DOID:9348"} @@ -88996,7 +88998,7 @@ is_a: MONDO:0004979 {source="DOID:9362", source="EFO:0008590", source="MESH:D013 id: MONDO:0004767 name: vesiculitis def: "An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle." [MONDO:patterns/inflammatory_disease_by_site] -synonym: "gland, seminal vesicle" EXACT [NCIT:C12787] +synonym: "gland, seminal vesicle" EXACT [] synonym: "inflammation of seminal vesicle" EXACT [] synonym: "seminal Sacs" EXACT [NCIT:C12787] synonym: "seminal vesicle" EXACT [NCIT:C12787] @@ -89057,7 +89059,7 @@ synonym: "inflammatory pseudotumors, orbital" EXACT [MESH:D016727] synonym: "orbital granuloma, plasma cell" EXACT [MESH:D016727] synonym: "orbital inflammatory pseudotumor" EXACT [MESH:D016727] synonym: "orbital inflammatory pseudotumors" EXACT [MESH:D016727] -synonym: "orbital myositis" RELATED [DOID:9369, ICD9CM:376.12] +synonym: "orbital myositis" RELATED [ICD9CM:376.12] synonym: "orbital plasma cell granuloma" EXACT [DOID:9369] synonym: "orbital pseudotumors" EXACT [MESH:D016727] synonym: "plasma cell granuloma, orbital" EXACT [MESH:D016727] @@ -89082,9 +89084,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0004770 name: exophthalmos def: "The anterior displacement of the eye within the orbit, giving a bulging appearance." [NCIT:P378] -synonym: "exophthalmos" EXACT [MONDO:ambiguous] +synonym: "exophthalmos" EXACT [MONDO:ambiguous, NCIT:C118763] synonym: "exophthalmos (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "proptosis" EXACT [DOID:9370] +synonym: "proptosis" EXACT [] xref: DOID:9370 {source="MONDO:equivalentObsolete"} xref: HP:0000520 {source="MONDO:otherHierarchy"} xref: ICD10CM:H05.20 {source="DOID:9370"} @@ -89116,7 +89118,7 @@ subset: ordo_disorder {source="Orphanet:636950"} subset: orphanet_rare {source="Orphanet:636950"} subset: rare synonym: "glaucomatocyclitic crisis disease" EXACT [Orphanet:636950] -synonym: "Posner-Schlossman syndrome" EXACT [DOID:9378] +synonym: "Posner-Schlossman syndrome" EXACT [DOID:9378, Orphanet:636950] synonym: "Terrien-Viel syndrome" EXACT [DOID:9378] xref: DOID:9378 {source="MONDO:equivalentTo"} xref: ICD9:364.22 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:9378"} @@ -89132,9 +89134,9 @@ name: iridocyclitis def: "An inflammation of the iris and the ciliary body" [https://orcid.org/0000-0002-6601-2165, Wikipedia:Uveitis#Classification] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "iridocyclitis" EXACT [MONDO:ambiguous] +synonym: "iridocyclitis" EXACT [DOID:9383, MONDO:ambiguous, NCIT:C34736] synonym: "iridocyclitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "primary iridocyclitis" NARROW [DOID:9383] +synonym: "primary iridocyclitis" NARROW [] xref: DOID:9383 {source="MONDO:equivalentTo"} xref: HP:0001094 {source="MONDO:otherHierarchy"} xref: ICD10CM:H20.01 {source="DOID:9383"} @@ -89202,7 +89204,7 @@ id: MONDO:0004777 name: acute laryngitis def: "An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "laryngitis" BROAD [NCIT:C26688] +synonym: "laryngitis" BROAD [] synonym: "laryngitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:9396 {source="MONDO:equivalentTo"} xref: ICD10CM:J04.0 {source="MONDO:equivalentTo", source="DOID:9396"} @@ -89254,7 +89256,7 @@ name: epididymitis def: "Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord." [MESH:D004823] synonym: "epididymal" EXACT [NCIT:C12328] synonym: "epididymis" EXACT [NCIT:C12328] -synonym: "epididymitis" EXACT [MONDO:ambiguous] +synonym: "epididymitis" EXACT [DOID:9402, ICD10CM:N45.1, MONDO:ambiguous] synonym: "epididymitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:9402 {source="MONDO:equivalentTo"} xref: HP:0000031 {source="MONDO:otherHierarchy"} @@ -89424,7 +89426,7 @@ id: MONDO:0004787 name: cervical mullerian papilloma def: "A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells." [NCIT:C40215] synonym: "cervical Muellerian papilloma" EXACT [DOID:9442] -synonym: "cervical Mullerian papilloma" EXACT [NCIT:C40215] +synonym: "cervical Mullerian papilloma" EXACT [DOID:9442, NCIT:C40215] synonym: "cervical Müllerian papilloma" EXACT [NCIT:C40215] xref: DOID:9442 {source="MONDO:equivalentTo"} xref: MEDGEN:273910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -89438,7 +89440,7 @@ id: MONDO:0004788 name: cervix squamous papilloma def: "A papilloma that arises from the squamous epithelium of the cervix." [NCIT:C6342] synonym: "cervical squamous papilloma" EXACT [NCIT:C6342] -synonym: "cervix squamous papilloma" EXACT [NCIT:C6342] +synonym: "cervix squamous papilloma" EXACT [DOID:9445, NCIT:C6342] synonym: "cervix uteri squamous papilloma" EXACT [NCIT:C6342] synonym: "squamous papilloma of cervix" EXACT [NCIT:C6342] synonym: "squamous papilloma of cervix uteri" EXACT [NCIT:C6342] @@ -89463,7 +89465,7 @@ def: "An acute or chronic inflammatory process affecting the biliary tract." [NC subset: otar {source="MONDO:OTAR"} synonym: "biliary tract infection" EXACT [NCIT:C26718] synonym: "biliary tree inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "cholangitis" EXACT [NCIT:C26718] +synonym: "cholangitis" EXACT [DOID:9446, ICD10CM:K83.0, icd11.foundation:1712178777, NCIT:C26718] synonym: "inflammation of biliary tree" EXACT [] xref: DOID:9446 {source="MONDO:equivalentTo"} xref: ICD10CM:K83.0 {source="DOID:9446", source="MONDO:equivalentTo"} @@ -89488,7 +89490,7 @@ name: fatty liver disease def: "A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis." [Wikipedia:Fatty_liver] comment: Editor note: classified as inherited in DO subset: otar {source="MONDO:OTAR"} -synonym: "alcoholic fatty liver" RELATED EXCLUDE [DOID:9452] +synonym: "alcoholic fatty liver" RELATED EXCLUDE [] synonym: "fatty change of liver" EXACT [DOID:9452] synonym: "fatty liver" EXACT [MONDO:0005317] synonym: "hepatic lipidosis" EXACT [DOID:9452] @@ -89563,10 +89565,10 @@ def: "Inflammation of the anatomical structures of the outer ear and ear canal s subset: otar {source="MONDO:OTAR"} synonym: "external Ear infection" EXACT [NCIT:C3299] synonym: "infectious otitis externa" EXACT [NCIT:C3299] -synonym: "otitis externa" EXACT [NCIT:C3299] +synonym: "otitis externa" EXACT [DOID:9463, ICD10CM:H60, icd11.foundation:1303990434, NCIT:C79601] synonym: "outer Ear infection" EXACT [NCIT:C3299] -synonym: "swimmer's Ear" EXACT [NCIT:C3299] -synonym: "swimmer's ear" EXACT [DOID:9463] +synonym: "swimmer's Ear" EXACT [DOID:9463, NCIT:C3299] +synonym: "swimmer's ear" EXACT [DOID:9463, NCIT:C3299] xref: DOID:9463 {source="MONDO:equivalentTo"} xref: EFO:0009560 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H60 {source="MONDO:equivalentTo"} @@ -89598,7 +89600,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "infectious meningitis" EXACT [NCIT:C79598] synonym: "infective meningitis" EXACT [NCIT:C79598] -synonym: "meningitis" RELATED [DOID:9471] +synonym: "meningitis" RELATED [] xref: DOID:9471 {source="EFO:0000584", source="MONDO:equivalentTo"} xref: EFO:0000584 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0001287 {source="MONDO:otherHierarchy"} @@ -89762,7 +89764,7 @@ synonym: "disease or disorder of leukocyte" EXACT [] synonym: "disorder of leukocyte" EXACT [MONDO:patterns/location_top] synonym: "disorder, leukocyte" EXACT [MESH:D007960] synonym: "disorders, leukocyte" EXACT [MESH:D007960] -synonym: "leukocyte disease" EXACT [MONDO:patterns/location] +synonym: "leukocyte disease" EXACT [DOID:9500, MONDO:patterns/location] synonym: "leukocyte disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "leukocyte disorder" EXACT [MESH:D007960] synonym: "white blood cell disorder" EXACT [] @@ -89808,7 +89810,7 @@ id: MONDO:0004808 name: benign mammary dysplasia comment: Editor note: NCIT treats dysplasia as a finding. Also as distinct from neoplasia synonym: "benign dysplasia of breast" RELATED [] -synonym: "benign mammary dysplasia" EXACT [] +synonym: "benign mammary dysplasia" EXACT [DOID:9504] xref: DOID:9504 {source="MONDO:equivalentTo"} xref: ICD9:610.8 {source="DOID:9504", source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:610.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -89905,7 +89907,7 @@ def: "A plasma cell neoplasm associated with osteosclerotic and fibrotic changes subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "osteosclerotic multiple myeloma" EXACT [NCIT:C7765] -synonym: "osteosclerotic myeloma" RELATED [DOID:9541] +synonym: "osteosclerotic myeloma" RELATED [] synonym: "osteosclerotic plasma cell myeloma" EXACT [NCIT:C7765] xref: DOID:9541 {source="MONDO:equivalentTo"} xref: MEDGEN:857662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -89921,7 +89923,7 @@ name: refractory plasma cell neoplasm def: "A plasma cell neoplasm that is resistant to treatment." [NCIT:C7813] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "refractory plasma cell neoplasm" EXACT [NCIT:C7813] +synonym: "refractory plasma cell neoplasm" EXACT [DOID:9544, NCIT:C7813] xref: DOID:9544 {source="MONDO:equivalentTo"} xref: MEDGEN:75844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7024 {source="DOID:9544"} @@ -89942,7 +89944,7 @@ subset: rare synonym: "non-functioning myeloma" RELATED [] synonym: "non-secreting myeloma" RELATED [] synonym: "non-secretory multiple myeloma" EXACT [NCIT:C4734] -synonym: "non-secretory myeloma" RELATED [DOID:9547] +synonym: "non-secretory myeloma" RELATED [] synonym: "non-secretory plasma cell myeloma" EXACT [NCIT:C4734] xref: DOID:9547 {source="MONDO:equivalentTo"} xref: MEDGEN:857719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -89963,8 +89965,8 @@ name: indolent plasma cell myeloma subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "indolent multiple myeloma" EXACT [] -synonym: "indolent myeloma" EXACT [https://github.com/monarch-initiative/mondo/issues/423] -synonym: "indolent plasma cell myeloma" EXACT [NCIT:C7150] +synonym: "indolent myeloma" EXACT [DOID:9550, https://github.com/monarch-initiative/mondo/issues/423] +synonym: "indolent plasma cell myeloma" EXACT [DOID:9550] xref: DOID:9550 {source="MONDO:equivalentTo"} xref: NCIT:C7150 {source="MONDO:equivalentObsolete"} xref: SCTID:441313008 {source="MONDO:equivalentTo"} @@ -89978,7 +89980,7 @@ def: "A benign, usually encapsulated slow growing tumor of the peripheral nervou subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "peripheral nerve schwannoma" EXACT [NCIT:C41430] +synonym: "peripheral nerve schwannoma" EXACT [DOID:956, NCIT:C41430] xref: DOID:956 {source="MONDO:equivalentTo"} xref: MEDGEN:274155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C41430 {source="DOID:956", source="MONDO:equivalentTo", source="NCIT:C41430"} @@ -90073,7 +90075,7 @@ id: MONDO:0004826 name: urethral calculus def: "A concretion in the urethra." [NCIT:P378] synonym: "urethra urolithiasis" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "urethral Stone" EXACT [DOID:9589, NCIT:C26995] +synonym: "urethral Stone" EXACT [DOID:9589] synonym: "urolithiasis of urethra" EXACT [MONDO:design_pattern] xref: DOID:9589 {source="MONDO:equivalentTo"} xref: ICD10CM:N21.1 {source="DOID:9589"} @@ -90093,7 +90095,7 @@ id: MONDO:0004827 name: esophagus squamous cell papilloma def: "A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare." [NCIT:P378] synonym: "esophageal squamous papilloma" EXACT [NCIT:C5344] -synonym: "esophagus squamous cell papilloma" EXACT [NCIT:C5344] +synonym: "esophagus squamous cell papilloma" EXACT [DOID:959, NCIT:C5344] synonym: "esophagus squamous papilloma" EXACT [MONDO:patterns/location] synonym: "oesophagus squamous papilloma" EXACT OMO:0003005 [] synonym: "squamous cell papilloma of esophagus" EXACT [NCIT:C5344] @@ -90145,7 +90147,7 @@ subset: gard_rare {source="GARD:8627", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Krukenberg neoplasm" EXACT [DOID:9597, NCIT:C3153] -synonym: "Krukenberg tumor" EXACT [DOID:9597, NCIT:C3153] +synonym: "Krukenberg tumor" EXACT [NCIT:C3153] synonym: "Krukenberg tumour" EXACT OMO:0003005 [] synonym: "Krukenberg’s tumor" RELATED [GARD:0008627] synonym: "Krukenberg’s tumour" RELATED OMO:0003005 [] @@ -90173,7 +90175,7 @@ name: fasciitis def: "Inflammation process in fascia." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "fascia inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "fasciitis" EXACT [MONDO:ambiguous] +synonym: "fasciitis" EXACT [DOID:9598, MONDO:ambiguous, NCIT:C50559] synonym: "fasciitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Fascitis" EXACT [NCIT:C50559] synonym: "inflammation of fascia" EXACT [] @@ -90209,7 +90211,7 @@ id: MONDO:0004832 name: esophagus leiomyoma def: "A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom." [NCIT:P378] synonym: "esophageal leiomyoma" EXACT [NCIT:C3866] -synonym: "esophagus leiomyoma" EXACT [MONDO:patterns/location, NCIT:C3866] +synonym: "esophagus leiomyoma" EXACT [DOID:960, MONDO:patterns/location, NCIT:C3866] synonym: "leiomyoma of esophagus" EXACT [NCIT:C3866] synonym: "leiomyoma of oesophagus" EXACT OMO:0003005 [] synonym: "leiomyoma of the esophagus" EXACT [NCIT:C3866] @@ -90296,7 +90298,7 @@ synonym: "esophageal neurofibroma" EXACT [NCIT:C5704] synonym: "esophagus neurofibroma" EXACT [MONDO:patterns/location, NCIT:C5704] synonym: "neurofibroma of esophagus" EXACT [NCIT:C5704] synonym: "neurofibroma of oesophagus" EXACT OMO:0003005 [] -synonym: "neurofibroma of the esophagus" EXACT [NCIT:C5704] +synonym: "neurofibroma of the esophagus" EXACT [DOID:961, NCIT:C5704] synonym: "oesophagus neurofibroma" EXACT OMO:0003005 [] xref: DOID:961 {source="MONDO:equivalentTo"} xref: MEDGEN:232164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -90310,7 +90312,7 @@ intersection_of: disease_has_location UBERON:0001043 ! esophagus [Term] id: MONDO:0004838 name: orthostatic proteinuria -synonym: "postural albuminuria" EXACT [DOID:9617] +synonym: "postural albuminuria" EXACT [DOID:9617, icd11.foundation:2144070055] xref: DOID:9617 {source="MONDO:equivalentTo"} xref: ICD10CM:R80.2 {source="DOID:9617"} xref: icd11.foundation:2144070055 {source="MONDO:equivalentTo"} @@ -90368,7 +90370,7 @@ def: "Inflammation of the oral mucosa due to local or systemic factors." [NCIT:P subset: otar {source="MONDO:OTAR"} synonym: "inflammation of mouth mucosa" EXACT [] synonym: "mouth mucosa inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "mucositis oral" EXACT [NCIT:C26887] +synonym: "mucositis oral" EXACT [] synonym: "oral mucositis" EXACT [NCIT:C26887] xref: DOID:9637 {source="MONDO:equivalentTo"} xref: EFO:0009688 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -90437,7 +90439,7 @@ name: aphthous stomatitis def: "A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring." [NCIT:P378] synonym: "aphtha" EXACT [DOID:9663] synonym: "aphthous ulceration" EXACT [DOID:9663] -synonym: "canker sore" RELATED [DOID:9663] +synonym: "canker sore" RELATED [] synonym: "oral aphthae" EXACT [DOID:9663, ICD9CM:528.2] synonym: "oral aphthous ulcer" RELATED [DOID:9663] synonym: "oral ulcer" EXACT [DOID:9663] @@ -90470,9 +90472,9 @@ name: placental abruption def: "Vaginal bleeding preceding the 20th week of gestation." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "abruptio placenta" EXACT [DOID:9667] -synonym: "abruptio placentae" EXACT [DOID:9667] +synonym: "abruptio placentae" EXACT [DOID:9667, NCIT:C26685] synonym: "Abruptio placentae, premature separation of placenta" EXACT [NCIT:C26685] -synonym: "placental abruption" EXACT [MONDO:ambiguous] +synonym: "placental abruption" EXACT [DOID:9667, MONDO:ambiguous, NCIT:C26685] synonym: "placental abruption (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "premature separation of placenta" EXACT [NCIT:C26685] xref: DOID:9667 {source="MONDO:equivalentTo"} @@ -90521,7 +90523,7 @@ id: MONDO:0004848 name: ulcerative stomatitis def: "Inflammation of the mouth mucosa associated with the presence of ulcers." [NCIT:C35039] subset: otar {source="MONDO:OTAR"} -synonym: "ulcerative stomatitis" EXACT [NCIT:C35039] +synonym: "ulcerative stomatitis" EXACT [DOID:9673, NCIT:C35039] xref: DOID:9673 {source="MONDO:equivalentTo"} xref: ICD10CM:K12.1 {source="DOID:9673"} xref: ICD9:528.00 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -90538,8 +90540,8 @@ id: MONDO:0004849 name: pulmonary emphysema def: "A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing." [NCIT:C3348] subset: otar {source="MONDO:OTAR"} -synonym: "emphysema" EXACT [MONDO:0005024] -synonym: "emphysema, pulmonary" EXACT [NCIT:C3348] +synonym: "emphysema" EXACT [ICD10CM:J43, MONDO:0005024, NCIT:C3348] +synonym: "emphysema, pulmonary" EXACT [] xref: DOID:9675 {source="EFO:0000464", source="MONDO:equivalentTo"} xref: EFO:0000464 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:J43 {source="MONDO:equivalentTo"} @@ -90622,10 +90624,10 @@ name: ophthalmia neonatorum def: "Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "gonococcal conjunctivitis" RELATED EXCLUDE [DOID:9699] -synonym: "gonococcal conjunctivitis (neonatorum)" EXACT [DOID:9699, ICD9CM:098.40] -synonym: "gonococcal ophthalmia neonatorum" RELATED [DOID:9699] -synonym: "neonatal conjunctivitis" EXACT [DOID:9699] +synonym: "gonococcal conjunctivitis" RELATED EXCLUDE [] +synonym: "gonococcal conjunctivitis (neonatorum)" EXACT [ICD9CM:098.40] +synonym: "gonococcal ophthalmia neonatorum" RELATED [] +synonym: "neonatal conjunctivitis" EXACT [DOID:9699, NCIT:C116815] xref: DOID:9699 {source="MONDO:equivalentTo"} xref: ICD10CM:P39.1 {source="DOID:9699"} xref: ICD9:771.6 {source="DOID:9699"} @@ -90650,7 +90652,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Inflammation of tendon sheath" EXACT [DOID:970] -synonym: "inflammation of tendon sheath" EXACT [] +synonym: "inflammation of tendon sheath" EXACT [DOID:970] synonym: "tendon sheath inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "Tenosynovitides" EXACT [MESH:D013717] xref: DOID:970 {source="MONDO:equivalentTo"} @@ -90710,7 +90712,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0004858 name: occlusion of gallbladder def: "Blockage of the normal flow of the contents of the gallbladder." [NCIT:P378] -synonym: "obstruction of gallbladder" EXACT [DOID:9714, ICD9CM:575.2] +synonym: "obstruction of gallbladder" EXACT [DOID:9714, ICD10CM:K82.0, ICD9CM:575.2] xref: DOID:9714 {source="MONDO:equivalentTo"} xref: ICD10CM:K82.0 {source="DOID:9714", source="MONDO:equivalentTo"} xref: icd11.foundation:1945915335 {source="MONDO:equivalentTo"} @@ -90827,7 +90829,7 @@ name: blue drum syndrome def: "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color." [DOID:9736, http://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false, http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false] synonym: "acute mucoid otitis media" EXACT [DOID:9736, ICD9CM:381.02] synonym: "acute non-suppurative otitis media - mucoid" RELATED [] -synonym: "blue drum syndrome" EXACT [] +synonym: "blue drum syndrome" EXACT [DOID:9736] xref: DOID:9736 {source="MONDO:equivalentTo"} xref: ICD9:381.02 {source="DOID:9736", source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:583099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -90873,7 +90875,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of upper respiratory tract" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of upper respiratory tract" EXACT [] synonym: "disorder of upper respiratory tract" EXACT [MONDO:patterns/location_top] -synonym: "upper respiratory tract disease" EXACT [MONDO:patterns/location] +synonym: "upper respiratory tract disease" EXACT [DOID:974, MONDO:patterns/location] synonym: "upper respiratory tract disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:974 {source="MONDO:equivalentTo"} xref: ICD10CM:J00-J06 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -90946,8 +90948,8 @@ replaced_by: MONDO:0006626 [Term] id: MONDO:0004871 name: perianal hematoma -synonym: "external thrombosed haemorrhoids" EXACT OMO:0003005 [] -synonym: "external thrombosed hemorrhoids" EXACT [DOID:9745] +synonym: "external thrombosed haemorrhoids" EXACT OMO:0003005 [DOID:9745] +synonym: "external thrombosed hemorrhoids" EXACT [] synonym: "Thrombosed external haemorrhoids" EXACT OMO:0003005 [] synonym: "Thrombosed external hemorrhoids" EXACT [DOID:9745] xref: DOID:9745 {source="MONDO:equivalentTo"} @@ -90968,9 +90970,9 @@ name: hemorrhoid def: "Dilated veins in the anal canal." [NCIT:C26792] subset: otar {source="MONDO:OTAR"} synonym: "Haemorrhoids" EXACT OMO:0003005 [] -synonym: "hemorrhoid" EXACT [NCIT:C26792] +synonym: "hemorrhoid" EXACT [DOID:9746, NCIT:C26792] synonym: "hemorrhoidal disease" EXACT [DOID:9746] -synonym: "Hemorrhoids" EXACT [NCIT:C26792] +synonym: "Hemorrhoids" EXACT [] xref: DOID:9746 {source="MONDO:equivalentTo"} xref: EFO:0009552 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K64 {source="DOID:9746"} @@ -90990,7 +90992,7 @@ is_a: MONDO:0004869 {source="DOID:9746"} ! pelvic varices id: MONDO:0004873 name: internal hemorrhoid def: "A hemorrhoid which originates above the dentate line." [NCIT:C35319] -synonym: "internal hemorrhoid" EXACT [NCIT:C35319] +synonym: "internal hemorrhoid" EXACT [DOID:9749, NCIT:C35319] xref: DOID:9749 {source="MONDO:equivalentTo"} xref: ICD9:455.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:455.6 {source="DOID:9749"} @@ -91097,7 +91099,7 @@ name: myositis fibrosa def: "A form of myositis that is characterized by the formation of connective tissue within the muscle." [NCIT:C26985] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "interstitial myositis" EXACT [DOID:9788, ICD9CM:728.81, NCIT:C26985] +synonym: "interstitial myositis" EXACT [DOID:9788, ICD10CM:M60.1, ICD9CM:728.81, NCIT:C26985] xref: DOID:9788 {source="MONDO:equivalentTo"} xref: ICD10CM:M60.1 {source="DOID:9788", source="MONDO:equivalentTo"} xref: ICD9:728.81 {source="DOID:9788", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -91255,7 +91257,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "choroidal dystrophy, central areolar" EXACT [DOID:9822] synonym: "circinate choroidal dystrophy" RELATED [] -synonym: "partial central choroid dystrophy" EXACT [] +synonym: "partial central choroid dystrophy" EXACT [DOID:9822] synonym: "partial central dystrophy of choroid" RELATED [] xref: DOID:9822 {source="MONDO:equivalentTo"} xref: ICD9:363.53 {source="DOID:9822", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -91273,7 +91275,7 @@ name: hyperopia def: "A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)" [MESH:D006956] subset: otar {source="MONDO:OTAR"} synonym: "Far-sightedness" EXACT [DOID:9834] -synonym: "hypermetropia" EXACT [DOID:9834, ICD9CM:367.0] +synonym: "hypermetropia" EXACT [DOID:9834, ICD10CM:H52.0, ICD9CM:367.0] xref: DOID:9834 {source="MONDO:equivalentTo"} xref: ICD10CM:H52.0 {source="DOID:9834", source="MONDO:equivalentTo"} xref: ICD9:367.0 {source="DOID:9834", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -91373,7 +91375,7 @@ id: MONDO:0004897 name: hypotropia def: "Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye." [NCIT:P378] synonym: "downward ocular deviation" EXACT [NCIT:C42086] -synonym: "hypotropia" EXACT [NCIT:C42086] +synonym: "hypotropia" EXACT [DOID:9841, icd11.foundation:1840811827, NCIT:C42086] synonym: "sunset sign" EXACT [NCIT:C42086] xref: DOID:9841 {source="MONDO:equivalentTo"} xref: icd11.foundation:1840811827 {source="MONDO:equivalentTo"} @@ -91398,8 +91400,8 @@ is_a: MONDO:0004883 {source="DOID:9842"} ! hereditary choroidal atrophy [Term] id: MONDO:0004899 name: monofixation syndrome -synonym: "microstrabismus" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4102453, SCTID:28633004] -synonym: "microtropia" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4102453, SCTID:28633004] +synonym: "microstrabismus" EXACT [https://orcid.org/0000-0002-8169-9049, icd11.foundation:1068979205, OMOP:4102453, SCTID:28633004] +synonym: "microtropia" EXACT [https://orcid.org/0000-0002-8169-9049, icd11.foundation:1068979205, OMOP:4102453, SCTID:28633004] xref: DOID:9843 {source="MONDO:equivalentTo"} xref: ICD10CM:H50.42 {source="DOID:9843", source="MONDO:equivalentTo"} xref: icd11.foundation:1068979205 {source="MONDO:equivalentTo"} @@ -91478,7 +91480,7 @@ is_a: MONDO:0003085 {source="DOID:9858"} ! keratitis [Term] id: MONDO:0004904 name: toxic maculopathy -synonym: "toxic maculopathy of retina" EXACT [DOID:9867, ICD9CM:362.55] +synonym: "toxic maculopathy of retina" EXACT [DOID:9867, icd11.foundation:1889317154, ICD9CM:362.55] xref: DOID:9867 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.38 {source="DOID:9867"} xref: icd11.foundation:1889317154 {source="MONDO:equivalentTo"} @@ -91525,10 +91527,10 @@ def: "Hair loss usually from the scalp. It may result in bald spots or spread to subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79364"} subset: otar {source="MONDO:OTAR"} -synonym: "alopecia" EXACT [MONDO:0019279] -synonym: "alopecia areata" NARROW [NCIT:C50575] +synonym: "alopecia" EXACT [DOID:987, MONDO:0019279, NCIT:C50575, Orphanet:79364] +synonym: "alopecia areata" NARROW [] synonym: "hair loss" EXACT [NCIT:C50575] -synonym: "loss Of hair" EXACT [NCIT:C50575] +synonym: "loss Of hair" EXACT [] xref: DOID:987 {source="MONDO:equivalentTo"} xref: ICD10CM:L65.9 {source="DOID:987"} xref: icd11.foundation:1313926062 {source="MONDO:equivalentTo", source="Orphanet:79364", source="https://orcid.org/0000-0001-5208-3432"} @@ -91579,16 +91581,16 @@ id: MONDO:0004910 name: mitral valve prolapse def: "A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia." [NCIT:P378] synonym: "barlow's syndrome" EXACT [DOID:988, MTH:097] -synonym: "floppy mitral valve" EXACT [DOID:988] +synonym: "floppy mitral valve" EXACT [DOID:988, NCIT:C50655] synonym: "mitral leaflet syndrome" RELATED [DOID:988] -synonym: "mitral valve prolapse" EXACT [MONDO:ambiguous] +synonym: "mitral valve prolapse" EXACT [DOID:988, icd11.foundation:1085590500, MONDO:ambiguous, NCIT:C50655] synonym: "mitral valve prolapse (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "mitral valve prolapse syndrome" EXACT [NCIT:C50655] -synonym: "mitral valve prolapse, myxomatous" RELATED [OMIMPS:157700] +synonym: "mitral valve prolapse, myxomatous" RELATED [] synonym: "myxomatous mitral valve prolapse" RELATED [DOID:988] -synonym: "prolapse, mitral valve" EXACT [NCIT:C50655] +synonym: "prolapse, mitral valve" EXACT [] synonym: "systolic click-murmur syndrome" RELATED [DOID:988] -synonym: "valve, prolapse Of mitral" EXACT [NCIT:C50655] +synonym: "valve, prolapse Of mitral" EXACT [] xref: DOID:988 {source="MONDO:equivalentTo"} xref: HP:0001634 {source="MONDO:otherHierarchy"} xref: icd11.foundation:1085590500 {source="MONDO:equivalentTo"} @@ -91693,7 +91695,7 @@ synonym: "infected chalazion" RELATED [] synonym: "infected cyst of meibomian gland" RELATED [] synonym: "infected meibomian cyst" RELATED [] synonym: "infection of meibomian gland" RELATED [] -synonym: "internal hordeolum" EXACT [] +synonym: "internal hordeolum" EXACT [DOID:9908] synonym: "meibomian adenitis" RELATED [] synonym: "tarsal gland hordeolum" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:9908 {source="MONDO:equivalentTo"} @@ -91873,7 +91875,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of lymph node" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of lymph node" EXACT [] synonym: "disorder of lymph node" EXACT [MONDO:patterns/location_top] -synonym: "lymph node disease" EXACT [MONDO:patterns/location] +synonym: "lymph node disease" EXACT [DOID:9942, MONDO:patterns/location] synonym: "lymph node disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lymph node disorder" EXACT [NCIT:C35346] xref: DOID:9942 {source="MONDO:equivalentTo"} @@ -91927,7 +91929,7 @@ id: MONDO:0004932 name: null-cell leukemia subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "null cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] +synonym: "null cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [DOID:9954] synonym: "null cell acute lymphoblastic leukemia" EXACT [DOID:9954] xref: DOID:9954 {source="MONDO:equivalentTo"} xref: MEDGEN:507917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -91978,7 +91980,7 @@ def: "Inflammation of the periosteum. The condition is generally chronic, and is synonym: "inflammation of periosteum" EXACT [] synonym: "periosteum" EXACT [NCIT:C13184] synonym: "periosteum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "periostitis" EXACT [MONDO:ambiguous] +synonym: "periostitis" EXACT [DOID:9957, MONDO:ambiguous] synonym: "periostitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:9957 {source="MONDO:equivalentTo"} xref: HP:0040165 {source="MONDO:otherHierarchy"} @@ -92025,7 +92027,7 @@ is_a: MONDO:0002654 {source="DOID:997", source="MESH:D019687"} ! uterine disorde [Term] id: MONDO:0004937 name: hypervitaminosis D -synonym: "hypervitaminosis type D" EXACT [DOID:9971, MONDORULE:1] +synonym: "hypervitaminosis type D" EXACT [MONDORULE:1] xref: DOID:9971 {source="MONDO:equivalentTo"} xref: ICD10CM:E67.3 {source="MONDO:equivalentTo", source="DOID:9971"} xref: icd11.foundation:602997191 {source="MONDO:equivalentTo"} @@ -92163,7 +92165,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "late neurosyphilis" EXACT [DOID:9988] -synonym: "neurosyphilis" EXACT [NCIT:C84935] +synonym: "neurosyphilis" EXACT [icd11.foundation:2118246468, NCIT:C84935] synonym: "tertiary neurosyphilis" EXACT [DOID:9988] xref: DOID:9988 {source="MONDO:equivalentTo"} xref: GARD:8729 {source="MONDO:GARD"} @@ -92195,10 +92197,10 @@ replaced_by: MONDO:0015691 id: MONDO:0004946 name: hypoglycemia def: "Abnormally low level of glucose in the blood." [NCIT:P378] -synonym: "blood glucose, Low" EXACT [NCIT:C3126] -synonym: "glucose, Low blood" EXACT [NCIT:C3126] +synonym: "blood glucose, Low" EXACT [] +synonym: "glucose, Low blood" EXACT [] synonym: "hypoglycaemia" EXACT [DOID:9993] -synonym: "low blood glucose" EXACT [NCIT:C3126] +synonym: "low blood glucose" EXACT [] xref: DOID:9993 {source="MONDO:equivalentTo"} xref: ICD10CM:E16.2 {source="DOID:9993"} xref: ICD9:251.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -92225,9 +92227,9 @@ def: "A neoplasm of lymphoblasts committed to the B-cell lineage, typically comp subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "B lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8936] +synonym: "B lymphoblastic leukemia/lymphoma" EXACT [DOID:0080630, NCIT:C8936] synonym: "precursor B lymphoblastic leukemia/lymphoma" EXACT [NCIT:C8936] -synonym: "precursor B lymphoblastic lymphoma/leukemia" RELATED [DOID:7061] +synonym: "precursor B lymphoblastic lymphoma/leukemia" RELATED [] synonym: "precursor B-lymphoblastic lymphoma/leukemia" EXACT [NCIT:C8936] xref: DOID:0080630 {source="MONDO:equivalentTo"} xref: DOID:7061 {source="MONDO:equivalentObsolete", source="EFO:0000094"} @@ -92257,37 +92259,37 @@ synonym: "B cell chronic lymphocytic leukemia" EXACT [NCIT:C3163] synonym: "B cell CLL" EXACT [NCIT:C3163] synonym: "B cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B cell lymphocytic leukemia" EXACT [NCIT:C3163] -synonym: "B-cell chronic lymphocytic leukemia" EXACT [DOID:1040, NCIT:C3163] +synonym: "B-cell chronic lymphocytic leukemia" EXACT [DOID:1040, NCIT:C3163, Orphanet:67038] synonym: "B-cell chronic lymphogenous leukaemia" EXACT OMO:0003005 [] -synonym: "B-cell chronic lymphogenous leukemia" EXACT [NCIT:C3163] +synonym: "B-cell chronic lymphogenous leukemia" EXACT [] synonym: "B-cell chronic lymphoid leukaemia" EXACT OMO:0003005 [] -synonym: "B-cell chronic lymphoid leukemia" EXACT [DOID:1040, NCIT:C3163, Orphanet:67038] +synonym: "B-cell chronic lymphoid leukemia" EXACT [NCIT:C3163, Orphanet:67038] synonym: "B-cell CLL" EXACT [NCIT:C3163] synonym: "B-cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B-cell lymphocytic leukemia" EXACT [NCIT:C3163] -synonym: "B-CLL" EXACT [Orphanet:67038] +synonym: "B-CLL" EXACT ABBREVIATION [Orphanet:67038] synonym: "BCLL" EXACT ABBREVIATION [NCIT:C3163] synonym: "chronic B-cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "chronic B-cell lymphocytic leukemia" EXACT [NCIT:C3163] -synonym: "chronic lymphatic leukaemia" EXACT OMO:0003005 [] +synonym: "chronic lymphatic leukaemia" EXACT OMO:0003005 [DOID:1040] synonym: "chronic lymphatic leukemia" EXACT [DOID:1040, NCIT:C3163] -synonym: "chronic lymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "chronic lymphocytic leukaemia" EXACT OMO:0003005 [DOID:1040] synonym: "chronic lymphocytic leukaemia (CLL)" EXACT OMO:0003005 [] -synonym: "Chronic Lymphocytic Leukemia" EXACT [NORD:971] -synonym: "chronic lymphocytic leukemia" EXACT [NCIT:C3163] +synonym: "Chronic Lymphocytic Leukemia" EXACT [DOID:1040, NCIT:C3163, NORD:971, Orphanet:67038] +synonym: "chronic lymphocytic leukemia" EXACT [DOID:1040, NCIT:C3163, Orphanet:67038] synonym: "chronic lymphocytic leukemia (CLL)" EXACT [NCIT:C3163] -synonym: "chronic lymphocytic leukemia, NOS" RELATED EXCLUDE [NCIT:C3163] +synonym: "chronic lymphocytic leukemia, NOS" RELATED EXCLUDE [] synonym: "chronic lymphogenous leukaemia" EXACT OMO:0003005 [] -synonym: "chronic lymphogenous leukemia" EXACT [NCIT:C3163] -synonym: "CLL" EXACT ABBREVIATION [DOID:1040, MONDO:Lexical, NCIT:C3163, OMIM:151400] +synonym: "chronic lymphogenous leukemia" EXACT [] +synonym: "CLL" EXACT ABBREVIATION [DOID:1040, MONDO:Lexical, NCIT:C3163, OMIM:151400, Orphanet:67038] synonym: "hematopoeitic - chronic lymphocytic leukaemia (CLL)" EXACT OMO:0003005 [] synonym: "hematopoeitic - chronic lymphocytic leukemia (CLL)" EXACT [NCIT:C3163] -synonym: "leukemia, chronic lymphatic" RELATED [OMIM:151400] -synonym: "leukemia, chronic LYMPHOCYTIC" RELATED [MONDO:Lexical, OMIM:151400] +synonym: "leukemia, chronic lymphatic" RELATED [] +synonym: "leukemia, chronic LYMPHOCYTIC" RELATED [MONDO:Lexical] synonym: "leukemia, lymphocytic, chronic" RELATED [GARD:0006104] -synonym: "lymphoplasmacytic leukaemia" EXACT OMO:0003005 [] +synonym: "lymphoplasmacytic leukaemia" EXACT OMO:0003005 [DOID:1040] synonym: "lymphoplasmacytic leukemia" EXACT [DOID:1040] -synonym: "small lymphocytic lymphoma" RELATED [Orphanet:67038] +synonym: "small lymphocytic lymphoma" RELATED [] xref: DOID:1040 {source="MONDO:equivalentTo", source="EFO:0000095"} xref: EFO:0000095 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6104 {source="MONDO:GARD"} @@ -92321,7 +92323,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mature B-cell lymphocytic neoplasm" EXACT [DOID:706, NCIT:C27910] -synonym: "mature B-cell neoplasm" EXACT [NCIT:C27910] +synonym: "mature B-cell neoplasm" EXACT [DOID:706, NCIT:C27910] synonym: "mature B-cell neoplasms" RELATED [ONCOTREE:MBN] xref: DOID:706 {source="MONDO:equivalentTo"} xref: EFO:0000096 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -92347,24 +92349,24 @@ id: MONDO:0004950 name: gastric carcinoma def: "A carcinoma that arises from epithelial cells of the stomach." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "Ca fundus - stomach" NARROW [DOID:10538] +synonym: "Ca fundus - stomach" NARROW [] synonym: "cancer of fundus of stomach" NARROW [MONDO:patterns/cancer] -synonym: "cancer of stomach" BROAD [NCIT:C4911] -synonym: "cancer of the stomach" BROAD [DOID:5517, NCIT:C4911] +synonym: "cancer of stomach" BROAD [] +synonym: "cancer of the stomach" BROAD [] synonym: "carcinoma of stomach" EXACT [DOID:5517, MONDO:patterns/carcinoma, NCIT:C4911] synonym: "carcinoma of the stomach" EXACT [NCIT:C4911] synonym: "fundus of stomach cancer" NARROW [MONDO:patterns/location] -synonym: "gastric (stomach) cancer" BROAD [NCIT:C4911] -synonym: "gastric cancer" BROAD [NCIT:C4911] -synonym: "gastric cancer, NOS" BROAD [NCIT:C4911] +synonym: "gastric (stomach) cancer" BROAD [] +synonym: "gastric cancer" BROAD [] +synonym: "gastric cancer, NOS" BROAD [] synonym: "gastric carcinoma" EXACT [DOID:5517, NCIT:C4911] -synonym: "gastric fundus cancer" NARROW [DOID:10538] +synonym: "gastric fundus cancer" NARROW [] synonym: "malignant fundus of stomach neoplasm" NARROW [MONDO:patterns/cancer] -synonym: "malignant neoplasm of fundus of stomach" NARROW [DOID:10538, ICD9CM:151.3, MONDO:patterns/cancer] -synonym: "malignant tumor of fundus of stomach" NARROW [DOID:10538] +synonym: "malignant neoplasm of fundus of stomach" NARROW [ICD9CM:151.3, MONDO:patterns/cancer] +synonym: "malignant tumor of fundus of stomach" NARROW [] synonym: "malignant tumour of fundus of stomach" NARROW OMO:0003005 [] -synonym: "stomach cancer" BROAD [NCIT:C4911] -synonym: "stomach carcinoma" EXACT [MONDO:patterns/location, NCIT:C4911] +synonym: "stomach cancer" BROAD [] +synonym: "stomach carcinoma" EXACT [DOID:5517, MONDO:patterns/location, NCIT:C4911] xref: DOID:10538 {source="MONDO:equivalentTo"} xref: DOID:5517 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:0000178 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -92393,25 +92395,25 @@ id: MONDO:0004951 name: susceptibility to HIV infection def: "The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte." [NCIT:P378] subset: predisposition -synonym: "acquired immunodeficiency syndrome, progression to" RELATED [OMIM:609423] -synonym: "AIDS, delayed/rapid progression to" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "AIDS, progression to" RELATED [OMIM:609423] -synonym: "AIDS, rapid progression to" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "AIDS, resistance to" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "AIDS, slow progression to" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "HIV infection, resistance to" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "HIV type 1, susceptibility to" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "HIV-1 disease, delayed progression of" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "HIV-1 disease, rapid progression of" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "HIV-1 viremia, susceptibility to" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "HIV-1, resistance to" RELATED [OMIM:609423] -synonym: "HIV-1, susceptibility to" RELATED [OMIM:609423] -synonym: "HIV/AIDS, susceptibility to" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "HIV1 infection, resistance to" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "HIV1, resistance to" EXACT [OMIM:609423, OMIM:genemap2] -synonym: "human immunodeficiency virus type 1, resistance to" RELATED [OMIM:609423] -synonym: "human immunodeficiency virus type 1, susceptibility to" RELATED [OMIM:609423] -synonym: "rapid progression to AIDS from HIV1 infection" EXACT [OMIM:609423, OMIM:genemap2] +synonym: "acquired immunodeficiency syndrome, progression to" RELATED [] +synonym: "AIDS, delayed/rapid progression to" EXACT [] +synonym: "AIDS, progression to" RELATED [] +synonym: "AIDS, rapid progression to" EXACT [] +synonym: "AIDS, resistance to" EXACT [] +synonym: "AIDS, slow progression to" EXACT [] +synonym: "HIV infection, resistance to" EXACT [] +synonym: "HIV type 1, susceptibility to" EXACT [] +synonym: "HIV-1 disease, delayed progression of" EXACT [] +synonym: "HIV-1 disease, rapid progression of" EXACT [] +synonym: "HIV-1 viremia, susceptibility to" EXACT [] +synonym: "HIV-1, resistance to" RELATED [] +synonym: "HIV-1, susceptibility to" RELATED [] +synonym: "HIV/AIDS, susceptibility to" EXACT [] +synonym: "HIV1 infection, resistance to" EXACT [] +synonym: "HIV1, resistance to" EXACT [] +synonym: "human immunodeficiency virus type 1, resistance to" RELATED [] +synonym: "human immunodeficiency virus type 1, susceptibility to" RELATED [] +synonym: "rapid progression to AIDS from HIV1 infection" EXACT [] xref: MEDGEN:332156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C14220 {source="MONDO:relatedTo", source="MONDO:otherHierarchy", source="EFO:0000180"} xref: OMIM:609423 {source="MONDO:equivalentTo", source="EFO:0000180"} @@ -92432,17 +92434,17 @@ subset: ordo_group_of_disorders {source="Orphanet:98293"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HL" EXACT ABBREVIATION [DOID:8567, NCIT:C9357] -synonym: "Hodgkin disease" EXACT [DOID:8567, MTH:NOCODE, NCIT:C9357] -synonym: "Hodgkin lymphoma" EXACT [DOID:8567, NCIT:C9357] -synonym: "Hodgkin lymphoma, NOS" RELATED EXCLUDE [NCIT:C9357] -synonym: "Hodgkin's Disease" EXACT [NORD:1246] -synonym: "Hodgkin's disease" EXACT [NCIT:C9357, Orphanet:98293] -synonym: "Hodgkin's lymphoma" EXACT [NCIT:C9357, Orphanet:98293] -synonym: "Hodgkin's sarcoma" RELATED [DOID:8567, ICD9CM:201.2] +synonym: "Hodgkin disease" EXACT [DOID:8567, icd11.foundation:1528863768, MTH:NOCODE] +synonym: "Hodgkin lymphoma" EXACT [DOID:8567, icd11.foundation:1528863768, NCIT:C9357, Orphanet:98293] +synonym: "Hodgkin lymphoma, NOS" RELATED EXCLUDE [] +synonym: "Hodgkin's Disease" EXACT [NCIT:C9357, NORD:1246] +synonym: "Hodgkin's disease" EXACT [NCIT:C9357] +synonym: "Hodgkin's lymphoma" EXACT [DOID:8567, NCIT:C9357] +synonym: "Hodgkin's sarcoma" RELATED [ICD9CM:201.2] synonym: "Hodgkins lymphoma" EXACT [DOID:8567] synonym: "lymphoma, Hodgkin's" RELATED [GARD:0002714] -synonym: "stage I subdiaphragmatic Hodgkin lymphoma" NARROW [DOID:8567, NCIT:C5012] -synonym: "stage II subdiaphragmatic Hodgkin lymphoma" NARROW [DOID:8567, NCIT:C5010] +synonym: "stage I subdiaphragmatic Hodgkin lymphoma" NARROW [] +synonym: "stage II subdiaphragmatic Hodgkin lymphoma" NARROW [] xref: DOID:8567 {source="MONDO:equivalentTo", source="EFO:0000183"} xref: EFO:0000183 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:2714 {source="MONDO:GARD"} @@ -92501,7 +92503,7 @@ name: invasive ductal breast carcinoma def: "The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "breast invasive ductal carcinoma" RELATED [ONCOTREE:IDC] -synonym: "ductal adenocarcinoma" EXACT [DOID:3008, NCIT:C4017] +synonym: "ductal adenocarcinoma" EXACT [DOID:3008] synonym: "infiltrating ductal adenocarcinoma" EXACT [NCIT:C4194] synonym: "infiltrating ductal breast carcinoma" EXACT [NCIT:C4194] synonym: "infiltrating ductal carcinoma" EXACT [NCIT:C4194] @@ -92509,12 +92511,12 @@ synonym: "infiltrating ductal carcinoma of breast" EXACT [DOID:3008, NCIT:C4194] synonym: "infiltrating ductal carcinoma of the breast" EXACT [NCIT:C4194] synonym: "invasive ductal adenocarcinoma" EXACT [NCIT:C4194] synonym: "invasive ductal breast carcinoma" EXACT [NCIT:C4194] -synonym: "invasive ductal carcinoma" EXACT [NCIT:C4194] +synonym: "invasive ductal carcinoma" EXACT [DOID:3008, NCIT:C4194] synonym: "invasive ductal carcinoma of breast" EXACT [NCIT:C4194] synonym: "invasive ductal carcinoma of the breast" EXACT [NCIT:C4194] synonym: "invasive ductal carcinoma, No specific type" EXACT [NCIT:C4194] -synonym: "invasive ductal carcinoma, NOS" RELATED EXCLUDE [NCIT:C4194] -synonym: "invasive ductal carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C4194] +synonym: "invasive ductal carcinoma, NOS" RELATED EXCLUDE [] +synonym: "invasive ductal carcinoma, not otherwise specified" RELATED EXCLUDE [] synonym: "invasive ductal carcinoma, NST" EXACT [DOID:3008, NCIT:C4194] xref: DOID:3008 {source="EFO:0000186", source="MONDO:equivalentTo"} xref: EFO:0000186 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -92580,10 +92582,10 @@ synonym: "colloid carcinoma" EXACT [NCIT:C26712] synonym: "gelatinous adenocarcinoma" EXACT [NCIT:C26712] synonym: "gelatinous carcinoma" EXACT [NCIT:C26712] synonym: "mucin-producing adenocarcinoma" EXACT [DOID:3030] -synonym: "mucin-producing adenocarcinoma (morphologic abnormality)" EXACT [DOID:3030] -synonym: "mucin-secreting adenocarcinoma" EXACT [DOID:3030, NCIT:C27379] -synonym: "mucin-secreting carcinoma" EXACT [DOID:3030, NCIT:C27825] -synonym: "mucinous adenocarcinoma" EXACT [NCIT:C26712] +synonym: "mucin-producing adenocarcinoma (morphologic abnormality)" EXACT [] +synonym: "mucin-secreting adenocarcinoma" EXACT [DOID:3030] +synonym: "mucin-secreting carcinoma" EXACT [DOID:3030] +synonym: "mucinous adenocarcinoma" EXACT [DOID:3030, NCIT:C26712] synonym: "mucinous carcinoma" EXACT [NCIT:C26712] synonym: "mucinuos carcinoma" EXACT [MONDO:0006310] synonym: "mucoid adenocarcinoma" EXACT [NCIT:C26712] @@ -92625,7 +92627,7 @@ synonym: "OCSC" RELATED ABBREVIATION [ONCOTREE:OCSC] synonym: "oral cavity scc" EXACT [NCIT:C4833] synonym: "oral cavity squamous cell cancer" EXACT [NCIT:C4833] synonym: "oral cavity squamous cell carcinoma" EXACT [NCIT:C4833] -synonym: "oral squamous cell carcinoma" RELATED [DOID:0050866, GARD:0007263] +synonym: "oral squamous cell carcinoma" RELATED [GARD:0007263] synonym: "scc of mouth" EXACT [NCIT:C4833] synonym: "scc of oral cavity" EXACT [NCIT:C4833] synonym: "scc of the mouth" EXACT [NCIT:C4833] @@ -92633,7 +92635,7 @@ synonym: "scc of the oral cavity" EXACT [NCIT:C4833] synonym: "squamous cell carcinoma of mouth" EXACT [NCIT:C4833] synonym: "squamous cell carcinoma of oral cavity" EXACT [NCIT:C4833] synonym: "squamous cell carcinoma of the mouth" EXACT [NCIT:C4833] -synonym: "squamous cell carcinoma of the oral cavity" EXACT [NCIT:C4833] +synonym: "squamous cell carcinoma of the oral cavity" EXACT [NCIT:C4833, Orphanet:502363] xref: DOID:0050866 {source="EFO:0000199", source="MONDO:equivalentTo"} xref: EFO:0000199 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:17932 {source="MONDO:GARD"} @@ -92663,14 +92665,14 @@ subset: ordo_group_of_disorders {source="Orphanet:98282"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "plasma cell disorder" RELATED [] -synonym: "plasma cell dyscrasia" EXACT [NCIT:C4665] -synonym: "plasma cell neoplasm" EXACT [NCIT:C4665] -synonym: "plasma cell tumor" EXACT [DOID:6536, MONDO:0020079, NCIT:C4665] +synonym: "plasma cell dyscrasia" EXACT [DOID:6536, NCIT:C4665] +synonym: "plasma cell neoplasm" EXACT [DOID:6536, NCIT:C4665] +synonym: "plasma cell tumor" EXACT [MONDO:0020079, NCIT:C4665, Orphanet:98282] synonym: "plasma cell tumor, malignant" EXACT [NCIT:C4665] -synonym: "plasma cell tumour" EXACT OMO:0003005 [] +synonym: "plasma cell tumour" EXACT OMO:0003005 [DOID:6536] synonym: "plasmacytic neoplasm" EXACT [NCIT:C4665] synonym: "plasmacytic tumor" EXACT [DOID:6536, NCIT:C4665] -synonym: "plasmacytic tumour" EXACT OMO:0003005 [] +synonym: "plasmacytic tumour" EXACT OMO:0003005 [NCIT:C4665] xref: DOID:6536 {source="EFO:0000200", source="MONDO:equivalentTo"} xref: EFO:0000200 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19440 {source="MONDO:GARD"} @@ -92744,7 +92746,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute T cell leukaemia" BROAD OMO:0003005 [] -synonym: "acute T cell leukemia" EXACT [NCIT:C3183] +synonym: "acute T cell leukemia" EXACT [DOID:5603, NCIT:C3183] synonym: "acute T cell lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "acute T cell lymphoblastic leukemia" EXACT [NCIT:C3183] synonym: "acute T cell lymphocytic leukaemia" EXACT OMO:0003005 [] @@ -92756,19 +92758,19 @@ synonym: "acute T-cell lymphoblastic leukemia" EXACT [NCIT:C3183] synonym: "acute T-cell lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute T-cell lymphocytic leukemia" EXACT [NCIT:C3183] synonym: "precursor T lymphoblastic leukaemia" EXACT OMO:0003005 [] -synonym: "precursor T lymphoblastic leukemia" EXACT [DOID:5603, NCIT:C3183] +synonym: "precursor T lymphoblastic leukemia" EXACT [DOID:5603] synonym: "precursor T-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor T-lymphoblastic leukaemia (T-cell ALL)" EXACT OMO:0003005 [] synonym: "precursor T-lymphoblastic leukemia" EXACT [NCIT:C3183] -synonym: "precursor T-lymphoblastic leukemia (T-cell ALL)" EXACT [NCIT:C3183] +synonym: "precursor T-lymphoblastic leukemia (T-cell ALL)" EXACT [] synonym: "T acute lymphoblastic leukaemia" EXACT OMO:0003005 [] -synonym: "T acute lymphoblastic leukemia" EXACT [NCIT:C3183] -synonym: "T-ALL" EXACT [NCIT:C3183] +synonym: "T acute lymphoblastic leukemia" EXACT [DOID:5603, NCIT:C3183] +synonym: "T-ALL" EXACT ABBREVIATION [NCIT:C3183] synonym: "T-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell acute lymphoblastic leukemia" EXACT [DOID:5603, NCIT:C3183] -synonym: "T-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] -synonym: "T-cell acute lymphocytic leukemia" EXACT [NCIT:C3183] -synonym: "T-cell ALL" EXACT [NCIT:C3183] +synonym: "T-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [DOID:5603] +synonym: "T-cell acute lymphocytic leukemia" EXACT [] +synonym: "T-cell ALL" EXACT [] synonym: "T-cell type acute leukaemia" EXACT OMO:0003005 [] synonym: "T-cell type acute leukemia" EXACT [NCIT:C3183] xref: CSP:2004-1600 {source="DOID:5603"} @@ -92806,8 +92808,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "peripheral T-cell lymphoma, NOS" RELATED EXCLUDE [NCIT:C4340] -synonym: "peripheral T-cell lymphoma, not otherwise specified" EXACT [NCIT:C4340] +synonym: "peripheral T-cell lymphoma, NOS" RELATED EXCLUDE [] +synonym: "peripheral T-cell lymphoma, not otherwise specified" EXACT [icd11.foundation:855224800, NCIT:C4340] synonym: "PTCL" RELATED ABBREVIATION [ONCOTREE:PTCL] xref: EFO:0000211 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:855224800 {source="MONDO:equivalentTo"} @@ -92828,8 +92830,8 @@ synonym: "ACCC" RELATED ABBREVIATION [ONCOTREE:ACCC] synonym: "acinar adenocarcinoma" EXACT [NCIT:C3768] synonym: "acinar carcinoma" EXACT [NCIT:C3768] synonym: "acinar cell adenocarcinoma" EXACT [NCIT:C3768] -synonym: "acinar cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C3768] -synonym: "acinar cell carcinoma (morphologic abnormality)" EXACT [DOID:3025] +synonym: "acinar cell carcinoma" EXACT [DOID:3025, MONDO:patterns/location, NCIT:C3768] +synonym: "acinar cell carcinoma (morphologic abnormality)" EXACT [] synonym: "acinic cell adenocarcinoma" EXACT [NCIT:C3768] synonym: "acinic cell carcinoma" EXACT [DOID:3025, NCIT:C3768] synonym: "acinic cell tumor" RELATED [GARD:0008568] @@ -92856,10 +92858,10 @@ id: MONDO:0004966 name: gastritis def: "Inflammation of the stomach." [NCIT:C26780] subset: otar {source="MONDO:OTAR"} -synonym: "acute gastric mucosal erosion" NARROW [DOID:4029] -synonym: "erosive gastritis" NARROW [DOID:4029] -synonym: "erosive gastropathy" NARROW [DOID:4029] -synonym: "gastritis" EXACT [MONDO:ambiguous, NCIT:C26780] +synonym: "acute gastric mucosal erosion" NARROW [] +synonym: "erosive gastritis" NARROW [] +synonym: "erosive gastropathy" NARROW [] +synonym: "gastritis" EXACT [DOID:4029, icd11.foundation:1871672644, MONDO:ambiguous, NCIT:C26780] synonym: "gastritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "inflammation of stomach" EXACT [] synonym: "stomach inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] @@ -92902,24 +92904,24 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute lymphoblastic leukaemia (ALL)" EXACT OMO:0003005 [] synonym: "acute lymphoblastic leukaemia (disease)" EXACT OMO:0003005 [] -synonym: "acute lymphoblastic leukemia" EXACT [DOID:9952, MONDO:ambiguous, NCIT:C3167] +synonym: "acute lymphoblastic leukemia" EXACT [DOID:9952, MONDO:ambiguous, NCIT:C3167, Orphanet:513] synonym: "acute lymphoblastic leukemia (ALL)" EXACT [NCIT:C3167] synonym: "acute lymphoblastic leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "acute lymphoblastic leukemia, NOS" RELATED EXCLUDE [NCIT:C3167] +synonym: "acute lymphoblastic leukemia, NOS" RELATED EXCLUDE [] synonym: "acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:513] -synonym: "acute lymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "acute lymphocytic leukaemia" EXACT OMO:0003005 [DOID:9952, NCIT:C3167] synonym: "acute lymphocytic leukemia" EXACT [GARD:0000522, NCIT:C3167, Orphanet:513] synonym: "acute lymphocytic leukemias" EXACT [NCIT:C3167] synonym: "acute lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "acute lymphogenous leukemia" EXACT [NCIT:C3167] synonym: "acute lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "acute lymphoid leukemia" EXACT [NCIT:C3167] -synonym: "ALL" EXACT ABBREVIATION [GARD:0000522, NCIT:C3167, Orphanet:513] +synonym: "ALL" EXACT ABBREVIATION [DOID:9952, GARD:0000522, NCIT:C3167, Orphanet:513] synonym: "ALL - acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "ALL - acute lymphocytic leukemia" EXACT [NCIT:C3167] synonym: "leukemia, lymphoblastic, malignant" EXACT [NCIT:C3167] synonym: "lymphoblastic leukaemia" BROAD OMO:0003005 [] -synonym: "lymphoblastic leukemia" BROAD [NCIT:C3167] +synonym: "lymphoblastic leukemia" BROAD [] synonym: "lymphoblastic leukemia, acute" EXACT [MONDO:patterns/acute] synonym: "precursor cell lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor cell lymphoblastic leukemia" EXACT [NCIT:C3167] @@ -92999,12 +93001,12 @@ id: MONDO:0004970 name: adenocarcinoma def: "A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma." [NCIT:C2852] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma" EXACT [NCIT:C2852] -synonym: "adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:299] +synonym: "adenocarcinoma" EXACT [DOID:299, NCIT:C2852] +synonym: "adenocarcinoma NOS (morphologic abnormality)" EXACT [] synonym: "adenocarcinoma, malignant" EXACT [NCIT:C2852] -synonym: "adenocarcinoma, no subtype (morphologic abnormality)" EXACT [DOID:299] -synonym: "adenocarcinoma, NOS" RELATED EXCLUDE [NCIT:C2852] -synonym: "adenocarcinomas" EXACT [DOID:299] +synonym: "adenocarcinoma, no subtype (morphologic abnormality)" EXACT [] +synonym: "adenocarcinoma, NOS" RELATED EXCLUDE [] +synonym: "adenocarcinomas" EXACT [] synonym: "ADNOS" RELATED ABBREVIATION [ONCOTREE:ADNOS] xref: CSP:2000-0386 {source="DOID:299"} xref: DOID:299 {source="MONDO:equivalentTo", source="EFO:0000228"} @@ -93033,8 +93035,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenocystic carcinoma" EXACT [GARD:0005743, NCIT:C2970] -synonym: "adenoid cystic cancer" EXACT [NCIT:C2970] -synonym: "adenoid cystic carcinoma" EXACT [NCIT:C2970] +synonym: "adenoid cystic cancer" EXACT [] +synonym: "adenoid cystic carcinoma" EXACT [DOID:0080202, NCIT:C2970] synonym: "cribriform carcinoma" RELATED [GARD:0005743] synonym: "cylindroid adenocarcinoma" EXACT [NCIT:C2970] synonym: "cylindroma" RELATED [GARD:0005743] @@ -93058,11 +93060,11 @@ name: adenoma def: "A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract." [NCIT:C2855] comment: Editor note: check status re benign subset: otar {source="MONDO:OTAR"} -synonym: "acinar cell adenoma" NARROW [DOID:657] -synonym: "acinar cell adenoma (morphologic abnormality)" NARROW [DOID:657] +synonym: "acinar cell adenoma" NARROW [] +synonym: "acinar cell adenoma (morphologic abnormality)" NARROW [] synonym: "acinic cell adenoma" EXACT [DOID:657] -synonym: "adenoma" EXACT [NCIT:C2855] -synonym: "adenoma, benign" NARROW [NCIT:C2855] +synonym: "adenoma" EXACT [DOID:657, NCIT:C2855] +synonym: "adenoma, benign" NARROW [] synonym: "adenomas" EXACT [DOID:657] xref: DOID:657 {source="EFO:0000232", source="MONDO:equivalentTo"} xref: EFO:0000232 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -93087,7 +93089,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "adenosquamous cell lung carcinoma" EXACT [NCIT:C9133] synonym: "adenosquamous lung cancer" EXACT [NCIT:C9133] synonym: "adenosquamous lung carcinoma" EXACT [DOID:4829, NCIT:C9133] -synonym: "lung adenosquamous carcinoma" EXACT [MONDO:patterns/location] +synonym: "lung adenosquamous carcinoma" EXACT [MONDO:patterns/location, NCIT:C9133] xref: DOID:4829 {source="EFO:0000233", source="MONDO:equivalentTo"} xref: EFO:0000233 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -93113,15 +93115,15 @@ subset: rare synonym: "adrenal gland chromaffin paraganglioma" EXACT [NCIT:C3326] synonym: "adrenal gland Chromaffinoma" EXACT [NCIT:C3326] synonym: "adrenal gland paraganglioma" EXACT [NCIT:C3326] -synonym: "adrenal gland pheochromocytoma" EXACT [NCIT:C3326] +synonym: "adrenal gland pheochromocytoma" EXACT [DOID:0050892, NCIT:C3326] synonym: "adrenal medullary paraganglioma" EXACT [NCIT:C3326] synonym: "adrenal medullary pheochromocytoma" EXACT [NCIT:C3326] synonym: "adrenal pheochromocytoma" EXACT [NCIT:C3326] synonym: "chromaffin paraganglioma of the adrenal gland" EXACT [NCIT:C3326] synonym: "Intraadrenal paraganglioma" EXACT [NCIT:C3326] synonym: "PCC" EXACT ABBREVIATION [NCIT:C3326] -synonym: "pheochromocytoma" BROAD [NCIT:C3326] -synonym: "pheochromocytoma (adrenal)" EXACT [NCIT:C3326] +synonym: "pheochromocytoma" BROAD [] +synonym: "pheochromocytoma (adrenal)" EXACT [] xref: DOID:0050892 {source="MONDO:equivalentTo", source="EFO:0000239"} xref: EFO:0000239 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8700/0 {source="NCIT:C3326"} @@ -93144,15 +93146,15 @@ id: MONDO:0004975 name: Alzheimer disease def: "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "AD" EXACT ABBREVIATION [DOID:10652] -synonym: "Alzheimer dementia" EXACT [NCIT:C2866] +synonym: "AD" EXACT ABBREVIATION [] +synonym: "Alzheimer dementia" EXACT [] synonym: "Alzheimer disease" EXACT [DOID:10652, NCIT:C2866] -synonym: "Alzheimer disease, familial" NARROW [DOID:10652, MESH:C536597] +synonym: "Alzheimer disease, familial" NARROW [MESH:C536597] synonym: "Alzheimer's dementia" EXACT [NCIT:C2866] -synonym: "Alzheimer's disease" EXACT [ISBN-13:978-1-259-64403-0, NCIT:C2866] -synonym: "Alzheimers dementia" EXACT [DOID:10652, NCIT:C2866] -synonym: "Alzheimers disease" EXACT [DOID:10652] -synonym: "presenile and senile dementia" EXACT [OMIM:104300] +synonym: "Alzheimer's disease" EXACT [DOID:10652, ICD10CM:G30, ISBN-13:978-1-259-64403-0, NCIT:C2866] +synonym: "Alzheimers dementia" EXACT [DOID:10652] +synonym: "Alzheimers disease" EXACT [] +synonym: "presenile and senile dementia" EXACT [] xref: DOID:10652 {source="MONDO:equivalentTo", source="EFO:0000249"} xref: HP:0002511 {source="MONDO:otherHierarchy"} xref: ICD10CM:G30 {source="MONDO:equivalentTo", source="DOID:10652"} @@ -93194,9 +93196,9 @@ subset: orphanet_rare {source="Orphanet:803"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ALS" EXACT ABBREVIATION [DOID:332, NCIT:C34373, Orphanet:803] -synonym: "amyotrophic lateral sclerosis" EXACT CLINGEN_LABEL [] +synonym: "amyotrophic lateral sclerosis" EXACT CLINGEN_LABEL [DOID:332, ICD10CM:G12.21, icd11.foundation:1982355687, NCIT:C34373, Orphanet:803] synonym: "Charcot disease" EXACT [Orphanet:803] -synonym: "Lou Gehrig disease" EXACT [Orphanet:803] +synonym: "Lou Gehrig disease" EXACT [NCIT:C34373, Orphanet:803] synonym: "Lou Gehrig's disease" EXACT [DOID:332] synonym: "motor neuron disease, bulbar" EXACT [DOID:332] xref: DOID:332 {source="EFO:0000253", source="MONDO:equivalentTo"} @@ -93237,8 +93239,8 @@ synonym: "AILT" EXACT ABBREVIATION [Orphanet:86886] synonym: "AITL" RELATED ABBREVIATION [GARD:0011973, ONCOTREE:AITL] synonym: "angioimmunoblastic lymphadenopathy" EXACT [NCIT:C7528] synonym: "angioimmunoblastic lymphadenopathy type T-cell lymphoma" EXACT [NCIT:C7528] -synonym: "angioimmunoblastic lymphadenopathy with Dysproteinemia" EXACT [NCIT:C7528] -synonym: "angioimmunoblastic T-cell lymphoma" EXACT [MONDO:0019477] +synonym: "angioimmunoblastic lymphadenopathy with Dysproteinemia" EXACT [ICD10CM:C86.5, NCIT:C7528] +synonym: "angioimmunoblastic T-cell lymphoma" EXACT [DOID:0111147, ICD10CM:C86.5, icd11.foundation:1254954229, MONDO:0019477, NCIT:C7528, Orphanet:86886] synonym: "immunoblastic lymphadenopathy" EXACT [Orphanet:86886] synonym: "lymphogranulomatosis X" EXACT [Orphanet:86886] synonym: "T-cell lymphoma, AILD type" EXACT [Orphanet:86886] @@ -93282,11 +93284,11 @@ name: asthma def: "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety." [EFO:0000270] subset: otar {source="MONDO:OTAR"} synonym: "bronchial hyperreactivity" EXACT [DOID:2841] -synonym: "chronic obstructive asthma" NARROW [DOID:2841] -synonym: "chronic obstructive asthma with acute exacerbation" NARROW [DOID:2841] -synonym: "chronic obstructive asthma with status asthmaticus" NARROW [DOID:2841] -synonym: "exercise induced asthma" NARROW [DOID:2841] -synonym: "exercise-induced asthma" NARROW [DOID:2841] +synonym: "chronic obstructive asthma" NARROW [] +synonym: "chronic obstructive asthma with acute exacerbation" NARROW [] +synonym: "chronic obstructive asthma with status asthmaticus" NARROW [] +synonym: "exercise induced asthma" NARROW [] +synonym: "exercise-induced asthma" NARROW [] xref: DOID:2841 {source="MONDO:equivalentTo", source="EFO:0000270"} xref: HP:0002099 {source="MONDO:otherHierarchy"} xref: ICD10CM:J45 {source="MONDO:equivalentTo", source="DOID:2841"} @@ -93321,8 +93323,8 @@ subset: otar {source="MONDO:OTAR"} synonym: "allergic dermatitis" EXACT [DOID:3310] synonym: "allergic form of dermatitis" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "ATOD" EXACT ABBREVIATION [OMIM:603165] -synonym: "atopic dermatitis" EXACT [DOID:3310] -synonym: "atopic eczema" EXACT [DOID:3310] +synonym: "atopic dermatitis" EXACT [DOID:3310, ICD10CM:L20, icd11.foundation:215767047, NCIT:C3001] +synonym: "atopic eczema" EXACT [DOID:3310, icd11.foundation:215767047] synonym: "atopic neurodermatitis" EXACT [DOID:3310] synonym: "Besnier's prurigo" EXACT [DOID:3310] synonym: "dermatitis, atopic" EXACT [MONDO:0011292, OMIM:603165] @@ -93365,8 +93367,8 @@ def: "A disorder characterized by an electrocardiographic finding of a supravent subset: otar {source="MONDO:OTAR"} synonym: "A-fib" EXACT [DOID:0060224] synonym: "AF" EXACT ABBREVIATION [NCIT:C50466] -synonym: "AFib" EXACT [NCIT:C50466] -synonym: "atrial fibrillation" EXACT [MONDO:ambiguous] +synonym: "AFib" EXACT [DOID:0060224, NCIT:C50466] +synonym: "atrial fibrillation" EXACT [DOID:0060224, icd11.foundation:171698302, MONDO:ambiguous, NCIT:C50466] synonym: "atrial fibrillation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060224 {source="EFO:0000275", source="MONDO:equivalentTo"} xref: EFO:0000275 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -93415,7 +93417,7 @@ id: MONDO:0004983 name: spermatogenic failure def: "A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa." [DOID:0111910] subset: otar {source="MONDO:OTAR"} -synonym: "spermatogenic failure" EXACT [DOID:14227] +synonym: "spermatogenic failure" EXACT [DOID:0111910, OMIMPS:258150] xref: DOID:0111910 {source="MONDO:equivalentTo"} xref: EFO:0000279 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:766708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -93452,22 +93454,22 @@ name: bipolar disorder def: "A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression." [NCIT:C34423] subset: otar {source="MONDO:OTAR"} synonym: "bipolar affective disorder" RELATED [] -synonym: "bipolar depression" NARROW [DOID:3312] -synonym: "bipolar disorder" EXACT [NCIT:C34423] -synonym: "bipolar disorder manic phase" NARROW [DOID:3312] +synonym: "bipolar depression" NARROW [] +synonym: "bipolar disorder" EXACT [DOID:3312, ICD10CM:F31, NCIT:C34423] +synonym: "bipolar disorder manic phase" NARROW [] synonym: "depressive-manic psych." RELATED [DOID:3312] synonym: "MAFD" RELATED ABBREVIATION [] synonym: "major affective disorder" EXACT [MONDO:0000055] synonym: "major bipolar affective disorder" RELATED [] -synonym: "manic bipolar affective disorder" NARROW [DOID:3312, NCIT:C34805] -synonym: "manic bipolar I disorder" NARROW [DOID:3312] -synonym: "manic depression" NARROW [DOID:3312] -synonym: "manic depressive disorder" NARROW [DOID:3312, NCIT:C34423] -synonym: "manic disorder" NARROW [DOID:3312] +synonym: "manic bipolar affective disorder" NARROW [] +synonym: "manic bipolar I disorder" NARROW [] +synonym: "manic depression" NARROW [] +synonym: "manic depressive disorder" NARROW [] +synonym: "manic disorder" NARROW [] synonym: "manic-depression" EXACT [NCIT:C34423] synonym: "manic-depressive illness" RELATED [] synonym: "manic-depressive psychosis" RELATED [] -synonym: "mixed bipolar disorder" NARROW [DOID:3312] +synonym: "mixed bipolar disorder" NARROW [] xref: DOID:3312 {source="MONDO:equivalentTo", source="EFO:0000289"} xref: ICD10CM:F31 {source="DOID:3312", source="MONDO:equivalentTo"} xref: ICD10CM:F31.9 {source="DOID:3312"} @@ -93503,18 +93505,18 @@ id: MONDO:0004986 name: urinary bladder carcinoma def: "A carcinoma that arises from epithelial cells of the urinary bladder" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "bladder cancer" BROAD [NCIT:C4912] -synonym: "bladder carcinoma" EXACT [MONDO:ambiguous, NCIT:C4912] -synonym: "cancer of bladder" BROAD [NCIT:C4912] -synonym: "cancer of the bladder" BROAD [NCIT:C4912] -synonym: "cancer of the urinary bladder" BROAD [NCIT:C4912] -synonym: "cancer of urinary bladder" BROAD [NCIT:C4912] -synonym: "carcinoma bladder" EXACT [DOID:4007] -synonym: "carcinoma of bladder" EXACT [DOID:4007, MTH:108, NCIT:C4912] +synonym: "bladder cancer" BROAD [] +synonym: "bladder carcinoma" EXACT [DOID:4007, MONDO:ambiguous, NCIT:C4912] +synonym: "cancer of bladder" BROAD [] +synonym: "cancer of the bladder" BROAD [] +synonym: "cancer of the urinary bladder" BROAD [] +synonym: "cancer of urinary bladder" BROAD [] +synonym: "carcinoma bladder" EXACT [] +synonym: "carcinoma of bladder" EXACT [MTH:108, NCIT:C4912] synonym: "carcinoma of the bladder" EXACT [NCIT:C4912] synonym: "carcinoma of the urinary bladder" EXACT [NCIT:C4912] synonym: "carcinoma of urinary bladder" EXACT [DOID:4007, MONDO:patterns/carcinoma, NCIT:C4912] -synonym: "urinary bladder cancer" BROAD [NCIT:C4912] +synonym: "urinary bladder cancer" BROAD [] synonym: "urinary bladder carcinoma" EXACT [MONDO:patterns/location, NCIT:C4912] xref: DOID:4007 {source="MONDO:equivalentTo", source="EFO:0000292"} xref: HP:0002862 {source="MONDO:otherHierarchy"} @@ -93578,9 +93580,9 @@ id: MONDO:0004988 name: breast adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the breast" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma of breast" EXACT [DOID:3458, NCIT:C5214] +synonym: "adenocarcinoma of breast" EXACT [NCIT:C5214] synonym: "adenocarcinoma of the breast" EXACT [NCIT:C5214] -synonym: "breast adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C5214] +synonym: "breast adenocarcinoma" EXACT [DOID:3458, MONDO:patterns/location, NCIT:C5214] synonym: "mammary adenocarcinoma" EXACT [DOID:3458, NCIT:C5214] xref: DOID:3458 {source="MONDO:equivalentTo", source="EFO:0000304"} xref: EFO:0000304 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -93598,12 +93600,12 @@ id: MONDO:0004989 name: breast carcinoma def: "A carcinoma that arises from epithelial cells of the breast" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "breast cancer" BROAD [NCIT:C4872] -synonym: "breast cancer, NOS" BROAD [NCIT:C4872] -synonym: "breast carcinoma" EXACT [MONDO:patterns/location, NCIT:C4872] -synonym: "cancer of breast" BROAD [NCIT:C4872] -synonym: "cancer of the breast" BROAD [NCIT:C4872] -synonym: "cancer, breast" BROAD [NCIT:C4872] +synonym: "breast cancer" BROAD [] +synonym: "breast cancer, NOS" BROAD [] +synonym: "breast carcinoma" EXACT [DOID:3459, MONDO:patterns/location, NCIT:C4872] +synonym: "cancer of breast" BROAD [] +synonym: "cancer of the breast" BROAD [] +synonym: "cancer, breast" BROAD [] synonym: "carcinoma of breast" EXACT [DOID:3459, MONDO:patterns/carcinoma, NCIT:C4872] synonym: "carcinoma of the breast" EXACT [NCIT:C4872] synonym: "mammary carcinoma" EXACT [DOID:3459, NCIT:C4872] @@ -93626,10 +93628,10 @@ id: MONDO:0004990 name: breast tumor luminal A or B def: "Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells." [NCIT:C53554, NCIT:C53555] subset: otar {source="MONDO:OTAR"} -synonym: "breast tumor luminal" EXACT [DOID:0060548] +synonym: "breast tumor luminal" EXACT [] synonym: "breast tumour luminal" EXACT OMO:0003005 [] -synonym: "luminal breast cancer" EXACT [DOID:0060548] -synonym: "luminal breast carcinoma" RELATED [DOID:0060548] +synonym: "luminal breast cancer" EXACT [] +synonym: "luminal breast carcinoma" RELATED [] xref: DOID:0060548 {source="MONDO:equivalentTo"} xref: EFO:0000306 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: NCIT:C53554 {source="EFO:0000306"} @@ -93643,11 +93645,12 @@ def: "A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bac" EXACT [NCIT:C2923] +synonym: "BAC" EXACT ABBREVIATION [NCIT:C2923] +synonym: "bac" EXACT [] synonym: "bronchioalveolar adenocarcinoma of lung" EXACT [NCIT:C2923] synonym: "bronchioalveolar adenocarcinoma of the lung" EXACT [NCIT:C2923] synonym: "bronchioalveolar lung carcinoma" EXACT [DOID:4926, NCIT:C2923] -synonym: "bronchiolo-alveolar adenocarcinoma" RELATED [DOID:4926] +synonym: "bronchiolo-alveolar adenocarcinoma" RELATED [] synonym: "bronchiolo-alveolar carcinoma of lung" EXACT [NCIT:C2923] synonym: "bronchiolo-alveolar carcinoma of the lung" EXACT [NCIT:C2923] synonym: "bronchiolo-alveolar lung carcinoma" EXACT [NCIT:C2923] @@ -93679,8 +93682,8 @@ name: cancer def: "A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas." [NCIT:C9305] subset: otar {source="MONDO:OTAR"} synonym: "CA" EXACT ABBREVIATION [NCIT:C9305] -synonym: "cancer" EXACT [NCIT:C9305] -synonym: "cell type cancer" EXACT [MONDO:0000404] +synonym: "cancer" EXACT [DOID:162, NCIT:C9305] +synonym: "cell type cancer" EXACT [DOID:0050687, MONDO:0000404] synonym: "malignancy" EXACT [NCIT:C9305] synonym: "malignant growth" EXACT [NCIT:C9305] synonym: "malignant neoplasm" EXACT [DOID:162, NCIT:C9305] @@ -93732,16 +93735,16 @@ id: MONDO:0004993 name: carcinoma def: "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas." [NCIT:C2916] subset: otar {source="MONDO:OTAR"} -synonym: "carcinoma" EXACT [NCIT:C2916] +synonym: "carcinoma" EXACT [DOID:305, NCIT:C2916] synonym: "carcinoma, malignant" EXACT [NCIT:C2916] -synonym: "carcinoma, NOS" RELATED EXCLUDE [NCIT:C2916] +synonym: "carcinoma, NOS" RELATED EXCLUDE [] synonym: "epithelial carcinoma" EXACT [NCIT:C2916] -synonym: "epithelioma" BROAD [DOID:305] +synonym: "epithelioma" BROAD [] synonym: "epithelioma malignant" EXACT [NCIT:C2916] synonym: "malignant epithelial neoplasm" EXACT [NCIT:C2916] synonym: "malignant epithelial tumor" EXACT [NCIT:C2916] synonym: "malignant epithelial tumour" EXACT OMO:0003005 [] -synonym: "malignant epithelioma" EXACT [DOID:305, NCIT:C2916, NCIT:C6927] +synonym: "malignant epithelioma" EXACT [DOID:305, NCIT:C2916] synonym: "Other carcinoma" EXACT [NCIT:C2916] xref: CSP:2000-1867 {source="DOID:305"} xref: DOID:305 {source="MONDO:equivalentTo", source="EFO:0000313"} @@ -93778,7 +93781,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:167848"} subset: otar {source="MONDO:OTAR"} synonym: "Cardiomyopathies" EXACT [DOID:0050700, MESH:D009202] -synonym: "cardiomyopathy" EXACT [MONDO:0015670] +synonym: "cardiomyopathy" EXACT [DOID:0050700, ICD10CM:I42, icd11.foundation:282225286, MONDO:0015670, NCIT:C34830] xref: DOID:0050700 {source="MONDO:equivalentTo", source="EFO:0000318"} xref: EFO:0000318 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:I42 {source="DOID:0050700", source="MONDO:equivalentTo"} @@ -93815,10 +93818,10 @@ name: cardiovascular disorder def: "A disease involving the cardiovascular system." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} subset: rare_grouping -synonym: "cardiovascular disease" EXACT [DOID:1287, NCIT:C2931] +synonym: "cardiovascular disease" EXACT [NCIT:C2931] synonym: "cardiovascular disease (CVD)" EXACT [NCIT:C2931] synonym: "cardiovascular disorder" EXACT [NCIT:C2931] -synonym: "cardiovascular system disease" EXACT [MONDO:patterns/location] +synonym: "cardiovascular system disease" EXACT [DOID:1287, MONDO:patterns/location] synonym: "cardiovascular system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "circulatory system disease" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "disease of cardiovascular system" EXACT [MONDO:patterns/location_top] @@ -93867,14 +93870,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute myeloid leukaemia (AML)" BROAD OMO:0003005 [] synonym: "acute myeloid leukaemia of childhood" EXACT OMO:0003005 [] -synonym: "acute myeloid leukemia (AML)" BROAD [NCIT:C9160] +synonym: "acute myeloid leukemia (AML)" BROAD [] synonym: "acute myeloid leukemia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "childhood acute granulocytic leukaemia" EXACT OMO:0003005 [] -synonym: "childhood acute granulocytic leukemia" EXACT [NCIT:C9160] +synonym: "childhood acute granulocytic leukemia" EXACT [] synonym: "childhood acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute myeloblastic leukemia" EXACT [NCIT:C9160] synonym: "childhood acute myelocytic leukaemia" EXACT OMO:0003005 [] -synonym: "childhood acute myelocytic leukemia" EXACT [NCIT:C9160] +synonym: "childhood acute myelocytic leukemia" EXACT [] synonym: "childhood acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "childhood acute myelogenous leukemia" EXACT [NCIT:C9160] synonym: "childhood acute myeloid leukemia" EXACT [DOID:0070323, NCIT:C9160] @@ -93882,10 +93885,10 @@ synonym: "childhood AML" EXACT [NCIT:C9160] synonym: "paediatric acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "paediatric acute myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "paediatric acute myelogenous leukaemia" EXACT OMO:0003005 [] -synonym: "paediatric acute myeloid leukaemia" EXACT OMO:0003005 [] +synonym: "paediatric acute myeloid leukaemia" EXACT OMO:0003005 [DOID:0070323] synonym: "paediatric AML" EXACT OMO:0003005 [] synonym: "pediatric acute myeloblastic leukemia" EXACT [NCIT:C9160] -synonym: "pediatric acute myelocytic leukemia" EXACT [NCIT:C9160] +synonym: "pediatric acute myelocytic leukemia" EXACT [] synonym: "pediatric acute myelogenous leukemia" EXACT [NCIT:C9160] synonym: "pediatric acute myeloid leukemia" EXACT [DOID:0070323, MONDO:patterns/childhood, NCIT:C9160] synonym: "pediatric AML" EXACT [NCIT:C9160] @@ -93912,7 +93915,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CHBL" RELATED ABBREVIATION [ONCOTREE:CHBL] -synonym: "chondroblastoma" EXACT [MONDO:ambiguous, NCIT:C2945] +synonym: "chondroblastoma" EXACT [DOID:2649, MONDO:ambiguous, NCIT:C2945] synonym: "chondroblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "chondroblastoma of bone" EXACT [DOID:2649] xref: DOID:2649 {source="EFO:0000331", source="MONDO:equivalentTo"} @@ -93956,7 +93959,7 @@ id: MONDO:0005001 name: chronic gastritis def: "Inflammation of the stomach that is chronic in nature." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "chronic gastritis" EXACT [MONDO:ambiguous] +synonym: "chronic gastritis" EXACT [MONDO:ambiguous, NCIT:C26929] synonym: "chronic gastritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "gastritis (disease), chronic" EXACT [MONDO:patterns/chronic] xref: EFO:0000337 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -93982,17 +93985,18 @@ def: "A chronic and progressive lung disorder characterized by the loss of elast subset: otar {source="MONDO:OTAR"} synonym: "chronic obstructive airway disease" EXACT [DOID:3083] synonym: "chronic obstructive airways disease" EXACT [NCIT:C3199] -synonym: "chronic obstructive lung disease" EXACT [DOID:3083] +synonym: "chronic obstructive lung disease" EXACT [DOID:3083, NCIT:C3199] synonym: "chronic obstructive pulmonary disease (COPD)" EXACT [NCIT:C3199] -synonym: "chronic obstructive pulmonary disease, (COPD)" EXACT [NCIT:C3199] -synonym: "cold" EXACT [NCIT:C3199] -synonym: "cold (chronic obstructive lung disease)" EXACT [DOID:3083] -synonym: "COPD" EXACT ABBREVIATION [DOID:3083, NCIT:C3199] -synonym: "COPD, chronic obstructive pulmonary disease" EXACT [NCIT:C3199] -synonym: "disease (COPD), chronic obstructive" EXACT [NCIT:C3199] +synonym: "chronic obstructive pulmonary disease, (COPD)" EXACT [] +synonym: "COLD" EXACT ABBREVIATION [DOID:3083, NCIT:C3199] +synonym: "cold" EXACT [] +synonym: "cold (chronic obstructive lung disease)" EXACT [] +synonym: "COPD" EXACT ABBREVIATION [DOID:3083, NCIT:C3199, OMIM:606963] +synonym: "COPD, chronic obstructive pulmonary disease" EXACT [] +synonym: "disease (COPD), chronic obstructive" EXACT [] synonym: "obstructive lung disease, chronic" EXACT [MONDO:patterns/chronic] -synonym: "obstructive pulmonary disease (COPD), chronic" EXACT [NCIT:C3199] -synonym: "pulmonary disease (COPD), chronic obstructive" EXACT [NCIT:C3199] +synonym: "obstructive pulmonary disease (COPD), chronic" EXACT [] +synonym: "pulmonary disease (COPD), chronic obstructive" EXACT [] xref: DOID:3083 {source="EFO:0000341", source="MONDO:equivalentTo"} xref: EFO:0000341 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:J44.9 {source="DOID:3083"} @@ -94045,21 +94049,21 @@ name: clear cell adenocarcinoma def: "A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "adenocarcinoma, clear cell, malignant" EXACT [NCIT:C3766] -synonym: "clear cell adenocarcinoma" EXACT [NCIT:C3766] -synonym: "clear cell adenocarcinoma (morphologic abnormality)" EXACT [DOID:4468] -synonym: "clear cell adenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:4468] -synonym: "clear cell carcinoma" RELATED [NCIT:C3766] -synonym: "malignant mesonephroma" RELATED [DOID:4468, NCIT:C4072] -synonym: "mesonephroid clear cell adenocarcinoma" RELATED [NCIT:C3766] -synonym: "mesonephroid clear cell carcinoma" RELATED [DOID:4468, NCIT:C3766] -synonym: "mesonephroma" RELATED EXCLUDE [DOID:4468] -synonym: "mesonephroma NOS (morphologic abnormality)" EXACT [DOID:4468] -synonym: "mesonephroma, malignant" RELATED [DOID:4468] -synonym: "mesonephroma, malignant (morphologic abnormality)" RELATED [DOID:4468] -synonym: "water-clear cell adenocarcinoma" EXACT [DOID:4468, NCIT:C4156] -synonym: "water-clear cell adenocarcinoma (morphologic abnormality)" EXACT [DOID:4468] -synonym: "water-clear cell carcinoma" RELATED [DOID:4468] -synonym: "Wolffian duct neoplasm" RELATED [DOID:4468] +synonym: "clear cell adenocarcinoma" EXACT [DOID:4468, NCIT:C3766] +synonym: "clear cell adenocarcinoma (morphologic abnormality)" EXACT [] +synonym: "clear cell adenocarcinoma NOS (morphologic abnormality)" EXACT [] +synonym: "clear cell carcinoma" RELATED [] +synonym: "malignant mesonephroma" RELATED [] +synonym: "mesonephroid clear cell adenocarcinoma" RELATED [] +synonym: "mesonephroid clear cell carcinoma" RELATED [] +synonym: "mesonephroma" RELATED EXCLUDE [] +synonym: "mesonephroma NOS (morphologic abnormality)" EXACT [] +synonym: "mesonephroma, malignant" RELATED [] +synonym: "mesonephroma, malignant (morphologic abnormality)" RELATED [] +synonym: "water-clear cell adenocarcinoma" EXACT [DOID:4468] +synonym: "water-clear cell adenocarcinoma (morphologic abnormality)" EXACT [] +synonym: "water-clear cell carcinoma" RELATED [] +synonym: "Wolffian duct neoplasm" RELATED [] xref: DOID:4468 {source="MONDO:equivalentTo", source="EFO:0000348"} xref: EFO:0000348 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8310/3 {source="NCIT:C3766"} @@ -94091,24 +94095,24 @@ subset: rare synonym: "clear cell adenocarcinoma of kidney" EXACT [NCIT:C4033] synonym: "clear cell adenocarcinoma of the kidney" EXACT [NCIT:C4033] synonym: "clear cell adenocarcinoma, kidney" EXACT [NCIT:C4033] -synonym: "clear cell carcinoma of kidney" EXACT [NCIT:C4033] +synonym: "clear cell carcinoma of kidney" EXACT [DOID:4467, NCIT:C4033] synonym: "clear cell carcinoma of the kidney" EXACT [NCIT:C4033] synonym: "clear cell kidney carcinoma" EXACT [DOID:4467] synonym: "clear cell renal cell cancer" EXACT [NCIT:C4033] -synonym: "clear cell renal cell carcinoma" EXACT [NCIT:C4033] +synonym: "clear cell renal cell carcinoma" EXACT [DOID:4467, NCIT:C4033, Orphanet:319276] synonym: "clear-cell metastatic renal cell carcinoma" RELATED [DOID:4467, MESH:C538445] synonym: "conventional (clear cell) renal cell adenocarcinoma" EXACT [NCIT:C4033] synonym: "conventional (clear cell) renal cell carcinoma" EXACT [DOID:4467, MTH:NOCODE, NCIT:C4033] synonym: "conventional renal cell carcinoma" EXACT [DOID:4467, NCIT:C4033] synonym: "Grawitz tumor" EXACT DEPRECATED [NCIT:C4033] synonym: "Grawitz tumour" EXACT OMO:0003005 [] -synonym: "hypernephroma" RELATED DEPRECATED [NCIT:C4033] +synonym: "hypernephroma" RELATED DEPRECATED [] synonym: "kidney clear cell adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4033] synonym: "kidney clear cell carcinoma" EXACT [NCIT:C4033] -synonym: "RCC, clear cell adenocarcinoma" EXACT [NCIT:C4033] -synonym: "renal cell carcinoma, clear cell adenocarcinoma" EXACT [NCIT:C4033] +synonym: "RCC, clear cell adenocarcinoma" EXACT [] +synonym: "renal cell carcinoma, clear cell adenocarcinoma" EXACT [] synonym: "renal clear cell adenocarcinoma" EXACT [NCIT:C4033] -synonym: "renal clear cell carcinoma" EXACT [NCIT:C4033] +synonym: "renal clear cell carcinoma" EXACT [DOID:4467, NCIT:C4033] xref: DOID:4467 {source="MONDO:equivalentTo", source="EFO:0000349"} xref: EFO:0000349 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9574 {source="MONDO:GARD"} @@ -94142,14 +94146,14 @@ synonym: "CCSK" EXACT ABBREVIATION [NCIT:C4264, ONCOTREE:CCSK, Orphanet:457246] synonym: "childhood clear cell sarcoma of the kidney" EXACT [NCIT:C4264] synonym: "childhood kidney clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264] synonym: "childhood renal clear cell sarcoma" EXACT [NCIT:C4264] -synonym: "clear cell sarcoma - kidney" EXACT [NCIT:C4264] -synonym: "clear cell sarcoma of kidney" EXACT [DOID:4880, MONDO:0018707, NCIT:C4264] +synonym: "clear cell sarcoma - kidney" EXACT [] +synonym: "clear cell sarcoma of kidney" EXACT [DOID:4880, MONDO:0018707, NCIT:C4264, Orphanet:457246] synonym: "clear cell sarcoma of the kidney" EXACT [NCIT:C4264] -synonym: "kidney clear cell sarcoma" EXACT [MONDO:patterns/location, NCIT:C4264] +synonym: "kidney clear cell sarcoma" EXACT [DOID:4880, MONDO:patterns/location, NCIT:C4264] synonym: "paediatric kidney clear cell sarcoma" EXACT OMO:0003005 [] synonym: "paediatric renal clear cell sarcoma" EXACT OMO:0003005 [] synonym: "pediatric kidney clear cell sarcoma" EXACT [NCIT:C4264] -synonym: "pediatric renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264, NCIT:C6564] +synonym: "pediatric renal clear cell sarcoma" EXACT [NCIT:C4264] synonym: "renal clear cell sarcoma" EXACT [DOID:4880, NCIT:C4264] xref: DOID:4880 {source="EFO:0000350", source="MONDO:equivalentTo"} xref: EFO:0000350 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -94185,7 +94189,7 @@ synonym: "colloidal adenocarcinoma of the colon" EXACT [NCIT:C7966] synonym: "colloidal colon adenocarcinoma" EXACT [NCIT:C7966] synonym: "colon colloid adenocarcinoma" EXACT [NCIT:C7966] synonym: "colon colloidal adenocarcinoma" EXACT [NCIT:C7966] -synonym: "colon mucinous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C7966] +synonym: "colon mucinous adenocarcinoma" EXACT [DOID:3029, MONDO:patterns/location, NCIT:C7966] synonym: "colonic colloid adenocarcinoma" EXACT [NCIT:C7966] synonym: "colonic colloidal adenocarcinoma" EXACT [NCIT:C7966] synonym: "colonic mucinous adenocarcinoma" EXACT [DOID:3029, NCIT:C7966] @@ -94214,10 +94218,10 @@ synonym: "adenocarcinoma of large intestine" EXACT [NCIT:C5105] synonym: "adenocarcinoma of the large bowel" EXACT [NCIT:C5105] synonym: "adenocarcinoma of the large intestine" EXACT [NCIT:C5105] synonym: "colorectal (colon or rectal) adenocarcinoma" EXACT [NCIT:C5105] -synonym: "colorectal adenocarcinoma" EXACT [NCIT:C5105] +synonym: "colorectal adenocarcinoma" EXACT [DOID:0050861, NCIT:C5105] synonym: "colorectum adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "large bowel adenocarcinoma" EXACT [NCIT:C5105] -synonym: "large intestine adenocarcinoma" EXACT [NCIT:C5105] +synonym: "large intestine adenocarcinoma" EXACT [DOID:0050913, NCIT:C5105] xref: DOID:0050861 {source="EFO:0000365", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0050913 {source="MONDO:equivalentTo"} xref: EFO:0000365 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -94239,11 +94243,11 @@ id: MONDO:0005009 name: congestive heart failure def: "Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales." [NCIT:C3080] subset: otar {source="MONDO:OTAR"} -synonym: "cardiac failure, congestive" EXACT [DOID:6000, NCIT:C3080] -synonym: "CHF" EXACT ABBREVIATION [DOID:6000] -synonym: "congestive heart disease" EXACT [DOID:6000] -synonym: "failure, congestive heart" EXACT [NCIT:C3080] -synonym: "heart failure, congestive" EXACT [NCIT:C3080] +synonym: "cardiac failure, congestive" EXACT [] +synonym: "CHF" EXACT ABBREVIATION [DOID:6000, NCIT:C3080] +synonym: "congestive heart disease" EXACT [DOID:6000, icd11.foundation:2136808878] +synonym: "failure, congestive heart" EXACT [] +synonym: "heart failure, congestive" EXACT [] synonym: "weak heart" EXACT [DOID:6000] xref: DOID:6000 {source="EFO:0000373", source="MONDO:equivalentTo"} xref: EFO:0000373 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -94282,12 +94286,12 @@ def: "Narrowing of the coronary arteries due to fatty deposits inside the arteri subset: otar {source="MONDO:OTAR"} synonym: "CAD" EXACT ABBREVIATION [NCIT:C26732] synonym: "CHD" EXACT ABBREVIATION [DOID:3393] -synonym: "CHD (coronary heart disease)" EXACT [DOID:3393] -synonym: "coronary arteriosclerosis" NARROW [DOID:3393] -synonym: "coronary artery disease" EXACT [MONDO:patterns/location, NCIT:C26732] +synonym: "CHD (coronary heart disease)" EXACT [] +synonym: "coronary arteriosclerosis" NARROW [] +synonym: "coronary artery disease" EXACT [DOID:3393, MONDO:patterns/location, NCIT:C26732] synonym: "coronary artery disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "coronary disease" EXACT [DOID:3393, NCIT:C26732] -synonym: "coronary heart disease" EXACT [DOID:3393, MONDO:0000016, NCIT:C26732] +synonym: "coronary heart disease" EXACT [DOID:3393, MONDO:0000016] synonym: "disease of coronary artery" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of coronary artery" EXACT [] synonym: "disorder of coronary artery" EXACT [MONDO:patterns/location_top] @@ -94347,14 +94351,14 @@ id: MONDO:0005011 name: Crohn disease def: "A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "Crohn disease" EXACT [DOID:8778, MESH:D003424, NCIT:C2965] -synonym: "Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C2965] +synonym: "Crohn disease" EXACT [DOID:8778, icd11.foundation:1267652425, MESH:D003424, NCIT:C2965] +synonym: "Crohn's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:8778, icd11.foundation:1267652425, MONDO:LexicalVariant, NCIT:C2965] synonym: "Crohn's disease of colon" EXACT [DOID:8778] synonym: "Crohn's disease of large bowel" EXACT [DOID:8778, MTH:NOCODE] -synonym: "granulomatous colitis" EXACT [DOID:8778, NCIT:C37262] +synonym: "granulomatous colitis" EXACT [DOID:8778] synonym: "paediatric Crohn's disease" EXACT OMO:0003005 [] synonym: "pediatric Crohn's disease" EXACT [DOID:8778, MESH:C536215] -synonym: "regional enteritis" EXACT [NCIT:C2965] +synonym: "regional enteritis" EXACT [icd11.foundation:1267652425, NCIT:C2965] xref: DOID:8778 {source="EFO:0000384", source="MONDO:equivalentTo"} xref: EFO:0000384 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K50.1 {source="DOID:8778"} @@ -94413,7 +94417,7 @@ synonym: "malignant upper limb melanoma" EXACT [DOID:8923] synonym: "melanoma (disease) of zone of skin" EXACT [] synonym: "melanoma of skin" EXACT [NCIT:C3510] synonym: "melanoma of the skin" EXACT [NCIT:C3510] -synonym: "skin melanoma" EXACT [NCIT:C3510] +synonym: "skin melanoma" EXACT [DOID:8923, NCIT:C3510] synonym: "skin, melanoma" EXACT [NCIT:C3510] synonym: "zone of skin melanoma" EXACT [] synonym: "zone of skin melanoma (disease)" EXACT [MONDO:patterns/location] @@ -94468,7 +94472,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DDCHS" RELATED ABBREVIATION [ONCOTREE:DDCHS] -synonym: "Dedifferentiated chondrosarcoma" EXACT [NCIT:C6476] +synonym: "Dedifferentiated chondrosarcoma" EXACT [DOID:0081247, NCIT:C6476] xref: DOID:0081247 {source="MONDO:equivalentTo"} xref: EFO:0000394 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:9243/3 {source="NCIT:C6476"} @@ -94493,8 +94497,8 @@ id: MONDO:0005015 name: diabetes mellitus def: "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "diabetes" EXACT [NCIT:C2985] -synonym: "diabetes mellitus" EXACT [MONDO:ambiguous, NCIT:C2985] +synonym: "diabetes" EXACT [DOID:9351, NCIT:C2985] +synonym: "diabetes mellitus" EXACT [DOID:9351, ICD10CM:E08-E13, icd11.foundation:465177735, MONDO:ambiguous, NCIT:C2985] synonym: "diabetes mellitus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "DM" EXACT ABBREVIATION [NCIT:C2985] xref: DOID:9351 {source="EFO:0000400", source="MONDO:equivalentTo"} @@ -94525,7 +94529,7 @@ name: diabetic kidney disease def: "Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis." [NCIT:C84417] subset: otar {source="MONDO:OTAR"} synonym: "diabetic nephropathy" EXACT [NCIT:C84417] -synonym: "DKD" EXACT ABBREVIATION [NCIT:C84417] +synonym: "DKD" EXACT ABBREVIATION [] synonym: "type 1 diabetes nephropathy" NARROW [MONDO:0005442] synonym: "type 2 diabetes nephropathy" NARROW [MONDO:0005443] xref: DOID:11503 {source="MONDO:relatedTo", source="EFO:0000401"} @@ -94562,18 +94566,18 @@ id: MONDO:0005017 name: diffuse gastric adenocarcinoma def: "An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration." [NCIT:C9159] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma of linitis plastica type" EXACT [DOID:6217, NCIT:C9159] +synonym: "adenocarcinoma of linitis plastica type" EXACT [NCIT:C9159] synonym: "adenocarcinoma of the linitis plastica type" EXACT [NCIT:C9159] -synonym: "carcinoma, diffuse type" EXACT [DOID:6217] -synonym: "carcinoma, diffuse type (morphologic abnormality)" EXACT [DOID:6217] +synonym: "carcinoma, diffuse type" EXACT [] +synonym: "carcinoma, diffuse type (morphologic abnormality)" EXACT [] synonym: "diffuse adenocarcinoma of stomach" EXACT [NCIT:C9159] synonym: "diffuse adenocarcinoma of the stomach" EXACT [NCIT:C9159] synonym: "diffuse gastric adenocarcinoma" EXACT [NCIT:C9159] synonym: "diffuse stomach adenocarcinoma" EXACT [NCIT:C9159] -synonym: "diffuse type adenocarcinoma" RELATED EXCLUDE [DOID:6217] -synonym: "diffuse type carcinoma" RELATED EXCLUDE [DOID:6217] +synonym: "diffuse type adenocarcinoma" RELATED EXCLUDE [] +synonym: "diffuse type carcinoma" RELATED EXCLUDE [] synonym: "diffuse type stomach adenocarcinoma" RELATED [ONCOTREE:DSTAD] -synonym: "gastric diffuse adenocarcinoma" EXACT [MONDO:0003814] +synonym: "gastric diffuse adenocarcinoma" EXACT [DOID:6217, MONDO:0003814, NCIT:C9159] synonym: "stomach diffuse type adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:6217 {source="MONDO:equivalentTo"} xref: EFO:0000402 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -94627,7 +94631,7 @@ synonym: "disease or disorder of intestine" EXACT [] synonym: "disease, intestinal" RELATED [MESH:D007410] synonym: "diseases, intestinal" RELATED [MESH:D007410] synonym: "disorder of intestine" EXACT [MONDO:patterns/location_top] -synonym: "intestinal disease" EXACT [MESH:D007410] +synonym: "intestinal disease" EXACT [DOID:5295, MESH:D007410] synonym: "intestinal disorder" EXACT [NCIT:C26801] synonym: "intestine disease" EXACT [MONDO:patterns/location] synonym: "intestine disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -94673,10 +94677,10 @@ subset: ordo_group_of_disorders {source="Orphanet:217604"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congestive cardiomyopathy" RELATED [DOID:12930] -synonym: "dilated cardiomyopathy" EXACT CLINGEN_LABEL [] +synonym: "dilated cardiomyopathy" EXACT CLINGEN_LABEL [DOID:12930, ICD10CM:I42.0, icd11.foundation:1916294688, NCIT:C84673, Orphanet:217604] synonym: "familial dilated cardiomyopathy" RELATED [DOID:12930, MESH:C536231] synonym: "idiopathic dilation cardiomyopathy" RELATED [DOID:12930, MESH:C536277] -synonym: "primary dilated cardiomyopathy" RELATED [DOID:12930] +synonym: "primary dilated cardiomyopathy" RELATED [] xref: DOID:12930 {source="MONDO:equivalentTo", source="EFO:0000407"} xref: EFO:0000407 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:221 {source="MONDO:GARD"} @@ -94716,7 +94720,7 @@ synonym: "breast ductal carcinoma in situ" RELATED [ONCOTREE:DCIS] synonym: "carcinoma in situ of mammary duct" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "DCIS" EXACT ABBREVIATION [NCIT:C2924] synonym: "ductal breast carcinoma in situ" EXACT [NCIT:C2924] -synonym: "ductal carcinoma in situ" EXACT [NCIT:C2924] +synonym: "ductal carcinoma in situ" EXACT [DOID:0060074, NCIT:C2924] synonym: "ductal carcinoma in situ (DCIS)" EXACT [NCIT:C2924] synonym: "ductal carcinoma in situ of breast" EXACT [NCIT:C2924] synonym: "ductal carcinoma in situ of the breast" EXACT [NCIT:C2924] @@ -94775,7 +94779,7 @@ id: MONDO:0005025 name: endocarditis def: "Inflammation of the endocardium." [NCIT:C34582] subset: otar {source="MONDO:OTAR"} -synonym: "endocarditis" EXACT [MONDO:ambiguous] +synonym: "endocarditis" EXACT [DOID:10314, MONDO:ambiguous, NCIT:C34582] synonym: "endocarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "endocardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of endocardium" EXACT [] @@ -94806,9 +94810,9 @@ def: "An adenocarcinoma characterized by the presence of malignant glandular epi subset: otar {source="MONDO:OTAR"} synonym: "endometrioid adenocarcinoma" EXACT [NCIT:C3769] synonym: "endometrioid carcinoma" EXACT [NCIT:C3769] -synonym: "endometrioid carcinoma of female reproductive system" EXACT [NCIT:C3769] -synonym: "endometrioid carcinoma of the female reproductive system" EXACT [NCIT:C3769] -synonym: "female reproductive endometrioid carcinoma" EXACT [NCIT:C3769] +synonym: "endometrioid carcinoma of female reproductive system" EXACT [] +synonym: "endometrioid carcinoma of the female reproductive system" EXACT [] +synonym: "female reproductive endometrioid carcinoma" EXACT [] xref: EFO:0000466 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8380/3 {source="NCIT:C3769"} xref: MEDGEN:293976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -94827,9 +94831,9 @@ name: epilepsy def: "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions." [NCIT:P378] subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "epilepsy" EXACT CLINGEN_LABEL [] -synonym: "epilepsy syndrome" NARROW EXCLUDE [DOID:1826] -synonym: "epileptic syndrome" NARROW EXCLUDE [DOID:1826] +synonym: "epilepsy" EXACT CLINGEN_LABEL [DOID:1826, ICD10WHO:G40, NCIT:C3020] +synonym: "epilepsy syndrome" NARROW EXCLUDE [] +synonym: "epileptic syndrome" NARROW EXCLUDE [] synonym: "seizure disorder" EXACT [NCIT:C3020] xref: DOID:1826 {source="MONDO:equivalentTo"} xref: EFO:0000474 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -94875,16 +94879,16 @@ subset: ordo_disorder {source="Orphanet:99976"} subset: orphanet_rare {source="Orphanet:99976"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenocarcinoma - esophagus" EXACT [NCIT:C4025] +synonym: "adenocarcinoma - esophagus" EXACT [] synonym: "adenocarcinoma - oesophagus" EXACT OMO:0003005 [] -synonym: "adenocarcinoma of esophagus" EXACT [DOID:4914, MONDO:0020565, NCIT:C4025] -synonym: "adenocarcinoma of oesophagus" EXACT OMO:0003005 [] -synonym: "adenocarcinoma of the esophagus" EXACT [NCIT:C4025] +synonym: "adenocarcinoma of esophagus" EXACT [MONDO:0020565, NCIT:C4025] +synonym: "adenocarcinoma of oesophagus" EXACT OMO:0003005 [icd11.foundation:829915640] +synonym: "adenocarcinoma of the esophagus" EXACT [NCIT:C4025, Orphanet:99976] synonym: "adenocarcinoma of the oesophagus" EXACT OMO:0003005 [] synonym: "esophageal adenocarcinoma" EXACT [NCIT:C4025, Orphanet:99976] -synonym: "esophagus adenocarcinoma" EXACT [MONDO:0003201, MONDO:patterns/location, NCIT:C4025] -synonym: "oesophageal adenocarcinoma" EXACT [DOID:4914] -synonym: "oesophageal adenocarcinoma NOS" RELATED EXCLUDE [DOID:4914, NCIT:C4025] +synonym: "esophagus adenocarcinoma" EXACT [DOID:4914, MONDO:0003201, MONDO:patterns/location, NCIT:C4025] +synonym: "oesophageal adenocarcinoma" EXACT [DOID:4914, icd11.foundation:829915640] +synonym: "oesophageal adenocarcinoma NOS" RELATED EXCLUDE [] synonym: "oesophagus adenocarcinoma" EXACT OMO:0003005 [] xref: DOID:4914 {source="MONDO:equivalentTo", source="EFO:0000478"} xref: EFO:0000478 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -94916,13 +94920,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "essential thrombocytemia" EXACT [NCIT:C3407] synonym: "essential thrombocythaemia" EXACT [DOID:2224] -synonym: "essential thrombocythemia" EXACT [NCIT:C3407] +synonym: "essential thrombocythemia" EXACT [DOID:2224, NCIT:C3407, Orphanet:3318] synonym: "essential thrombocytosis" EXACT [NCIT:C3407, Orphanet:3318] -synonym: "ET" BROAD ABBREVIATION [NCIT:C3407, Orphanet:3318] -synonym: "familial thrombocytosis" RELATED EXCLUDE [DOID:2224] +synonym: "ET" BROAD ABBREVIATION [] +synonym: "familial thrombocytosis" RELATED EXCLUDE [] synonym: "hemorrhagic thrombocythemia" EXACT [DOID:2224] -synonym: "hereditary thrombocythemia" RELATED EXCLUDE [DOID:2224] -synonym: "idiopathic thrombocythemia" NARROW [GARD:0006594, NCIT:C3407] +synonym: "hereditary thrombocythemia" RELATED EXCLUDE [] +synonym: "idiopathic thrombocythemia" NARROW [GARD:0006594] synonym: "primary thrombocythemia" EXACT [GARD:0006594, NCIT:C3407] synonym: "primary thrombocytosis" EXACT [DOID:2224, NCIT:C3407] xref: DOID:2224 {source="MONDO:equivalentTo", source="EFO:0000479"} @@ -95024,17 +95028,17 @@ synonym: "adenoma of the thyroid gland" EXACT [NCIT:C3502] synonym: "adenoma of thyroid" EXACT [NCIT:C3502] synonym: "adenoma of thyroid gland" EXACT [DOID:2891, NCIT:C3502] synonym: "adenoma, follicular cell, benign" EXACT [NCIT:C3502] -synonym: "follicular adenoma" EXACT [NCIT:C3502] -synonym: "follicular adenoma (morphologic abnormality)" EXACT [DOID:6204] +synonym: "follicular adenoma" EXACT [DOID:6204, NCIT:C3502] +synonym: "follicular adenoma (morphologic abnormality)" EXACT [] synonym: "follicular adenoma of the thyroid" EXACT [NCIT:C3502] -synonym: "follicular adenoma of the thyroid gland" EXACT [DOID:6204, NCIT:C3502, NCIT:C3684] +synonym: "follicular adenoma of the thyroid gland" EXACT [DOID:6204, NCIT:C3502] synonym: "follicular adenoma of thyroid" EXACT [NCIT:C3502] synonym: "follicular adenoma of thyroid gland" EXACT [NCIT:C3502] synonym: "follicular thyroid adenoma" EXACT [MONDO:0003807] -synonym: "thyroid adenoma" EXACT [NCIT:C3502] +synonym: "thyroid adenoma" EXACT [DOID:2891, NCIT:C3502] synonym: "thyroid adenoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "thyroid follicle adenoma" EXACT [] -synonym: "thyroid follicular adenoma" EXACT [NCIT:C3502] +synonym: "thyroid follicular adenoma" EXACT [DOID:6204, NCIT:C3502] synonym: "thyroid gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3502] synonym: "thyroid gland follicular adenoma" EXACT [NCIT:C3502] xref: DOID:2891 {source="MONDO:equivalentTo"} @@ -95074,7 +95078,7 @@ subset: ordo_disorder {source="Orphanet:251992"} subset: orphanet_rare {source="Orphanet:251992"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ganglioneuroma" EXACT [MONDO:ambiguous, NCIT:C3049] +synonym: "ganglioneuroma" EXACT [DOID:4817, MONDO:ambiguous, NCIT:C3049, Orphanet:251992] synonym: "ganglioneuroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ganglioneuroma (Schwannian Stroma-dominant)" EXACT [NCIT:C3049] synonym: "ganglioneuroma, benign" EXACT [NCIT:C3049] @@ -95114,30 +95118,30 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carcinoma of thyroid follicle" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, follicular cell, malignant" EXACT [NCIT:C8054] -synonym: "follicular adenocarcinoma" NARROW [NCIT:C8054] -synonym: "follicular adenocarcinoma (morphologic abnormality)" NARROW [DOID:3962] -synonym: "follicular adenocarcinoma, well differentiated" NARROW [DOID:3962] -synonym: "follicular adenocarcinoma, well differentiated (morphologic abnormality)" NARROW [DOID:3962] -synonym: "follicular cancer of the thyroid" BROAD [NCIT:C8054] -synonym: "follicular cancer of the thyroid gland" BROAD [NCIT:C8054] -synonym: "follicular cancer of thyroid" BROAD [NCIT:C8054] -synonym: "follicular cancer of thyroid gland" BROAD [NCIT:C8054] +synonym: "follicular adenocarcinoma" NARROW [] +synonym: "follicular adenocarcinoma (morphologic abnormality)" NARROW [] +synonym: "follicular adenocarcinoma, well differentiated" NARROW [] +synonym: "follicular adenocarcinoma, well differentiated (morphologic abnormality)" NARROW [] +synonym: "follicular cancer of the thyroid" BROAD [] +synonym: "follicular cancer of the thyroid gland" BROAD [] +synonym: "follicular cancer of thyroid" BROAD [] +synonym: "follicular cancer of thyroid gland" BROAD [] synonym: "follicular carcinoma" EXACT [DOID:3962, NCIT:C8054] synonym: "follicular carcinoma of the thyroid" EXACT [NCIT:C8054] -synonym: "follicular carcinoma of the thyroid gland" EXACT [DOID:3962, NCIT:C8054] +synonym: "follicular carcinoma of the thyroid gland" EXACT [NCIT:C8054] synonym: "follicular carcinoma of thyroid" EXACT [NCIT:C8054] synonym: "follicular carcinoma of thyroid gland" EXACT [NCIT:C8054] synonym: "follicular thyroid cancer" EXACT [NCIT:C8054] -synonym: "follicular thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C8054] +synonym: "follicular thyroid carcinoma" EXACT [DOID:3962, MONDO:ambiguous, NCIT:C8054] synonym: "follicular thyroid gland carcinoma" EXACT [NCIT:C8054] -synonym: "thyroid adenocarcinoma" NARROW EXCLUDE [DOID:3962] +synonym: "thyroid adenocarcinoma" NARROW EXCLUDE [] synonym: "thyroid follicle carcinoma" EXACT [] synonym: "thyroid follicular carcinoma" EXACT [NCIT:C8054] synonym: "thyroid gland adenocarcinoma" NARROW [MONDO:patterns/location] -synonym: "thyroid gland follicular cancer" BROAD [NCIT:C8054] -synonym: "thyroid gland follicular carcinoma" EXACT [NCIT:C8054] +synonym: "thyroid gland follicular cancer" BROAD [] +synonym: "thyroid gland follicular carcinoma" EXACT [DOID:3962, NCIT:C8054] synonym: "well-differentiated follicular adenocarcinoma" EXACT [NCIT:C8054] -synonym: "well-differentiated follicular carcinoma" BROAD [NCIT:C8054] +synonym: "well-differentiated follicular carcinoma" BROAD [] xref: DOID:3962 {source="MONDO:equivalentTo", source="EFO:0000501"} xref: EFO:0000501 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0006731 {source="MONDO:otherHierarchy"} @@ -95170,9 +95174,9 @@ subset: ordo_disorder {source="Orphanet:251877"} subset: orphanet_rare {source="Orphanet:251877"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ganglioneuroblastoma" EXACT [MONDO:ambiguous, NCIT:C3790] +synonym: "ganglioneuroblastoma" EXACT [DOID:4163, MONDO:ambiguous, NCIT:C3790, Orphanet:251877] synonym: "ganglioneuroblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "ganglioneuroblastoma (morphologic abnormality)" EXACT [DOID:4163] +synonym: "ganglioneuroblastoma (morphologic abnormality)" EXACT [] synonym: "ganglioneuroblastoma, malignant" EXACT [NCIT:C3790] xref: DOID:4163 {source="MONDO:equivalentTo", source="EFO:0000502"} xref: EFO:0000502 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -95200,11 +95204,11 @@ id: MONDO:0005036 name: gastric adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the stomach" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma - stomach" EXACT [NCIT:C4004] -synonym: "adenocarcinoma of stomach" EXACT [NCIT:C4004] +synonym: "adenocarcinoma - stomach" EXACT [] +synonym: "adenocarcinoma of stomach" EXACT [DOID:3717, NCIT:C4004] synonym: "adenocarcinoma of the stomach" EXACT [NCIT:C4004] synonym: "gastric (stomach) adenocarcinoma" EXACT [NCIT:C4004] -synonym: "gastric adenocarcinoma" EXACT [NCIT:C4004] +synonym: "gastric adenocarcinoma" EXACT [DOID:3717, NCIT:C4004] synonym: "STAD" RELATED ABBREVIATION [ONCOTREE:STAD] synonym: "stomach adenocarcinoma" EXACT [DOID:3717, MONDO:patterns/location, NCIT:C4004] xref: DOID:3717 {source="MONDO:equivalentTo", source="EFO:0000503"} @@ -95262,8 +95266,8 @@ synonym: "disease or disorder of reproductive system" EXACT [] synonym: "disorder of reproductive system" EXACT [MONDO:patterns/location_top, NCIT:C4875] synonym: "genital disorders" EXACT [NCIT:C4875] synonym: "genital system disease" EXACT [DOID:15] -synonym: "reproductive disease" EXACT [DOID:15] -synonym: "reproductive system disease" EXACT [MONDO:patterns/location, NCIT:C4875] +synonym: "reproductive disease" EXACT [] +synonym: "reproductive system disease" EXACT [DOID:15, MONDO:patterns/location, NCIT:C4875] synonym: "reproductive system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "reproductive system disorder" EXACT [NCIT:C4875] xref: DOID:15 {source="MONDO:equivalentTo", source="EFO:0000512"} @@ -95286,12 +95290,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "germ cell cancer" RELATED [DOID:2994] -synonym: "germ cell neoplasm" EXACT [DOID:2994, NCIT:C3708] -synonym: "germ cell tumor" EXACT [DOID:2994, NCIT:C3708] +synonym: "germ cell cancer" RELATED [] +synonym: "germ cell neoplasm" EXACT [NCIT:C3708] +synonym: "germ cell tumor" EXACT [NCIT:C3708] synonym: "germ cells tumors" RELATED [GARD:0013022] synonym: "germ cells tumours" RELATED OMO:0003005 [] -synonym: "malignant tumor of the germ cell" RELATED EXCLUDE [DOID:2994] +synonym: "malignant tumor of the germ cell" RELATED EXCLUDE [] synonym: "malignant tumour of the germ cell" RELATED OMO:0003005 [] synonym: "neoplasm of germ cell" EXACT [NCIT:C3708] synonym: "neoplasm of the germ cell" EXACT [NCIT:C3708] @@ -95322,7 +95326,7 @@ id: MONDO:0005041 name: glaucoma def: "Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "glaucoma" EXACT [MONDO:ambiguous] +synonym: "glaucoma" EXACT [DOID:1686, ICD10CM:H40-H42, icd11.foundation:499924848, MONDO:ambiguous, NCIT:C26782] synonym: "glaucoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1686 {source="MONDO:equivalentTo", source="EFO:0000516"} xref: HP:0000501 {source="MONDO:otherHierarchy"} @@ -95380,15 +95384,15 @@ id: MONDO:0005044 name: hypertensive disorder def: "Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more." [MESH:D006973] subset: otar {source="MONDO:OTAR"} -synonym: "blood pressure, high" EXACT [NCIT:C3117] -synonym: "blood pressure, increased" EXACT [NCIT:C3117] -synonym: "high blood pressure" EXACT [DOID:10763] -synonym: "HTN" BROAD ABBREVIATION [DOID:10763] +synonym: "blood pressure, high" EXACT [] +synonym: "blood pressure, increased" EXACT [] +synonym: "high blood pressure" EXACT [NCIT:C3117] +synonym: "HTN" BROAD ABBREVIATION [] synonym: "hyperpiesia" EXACT [DOID:10763] -synonym: "hypertension" RELATED [DOID:10763] -synonym: "hypertensive disease" EXACT [DOID:10763, MTH:NOCODE] -synonym: "increased blood pressure" EXACT [NCIT:C3117] -synonym: "pressure, high blood" EXACT [NCIT:C3117] +synonym: "hypertension" RELATED [] +synonym: "hypertensive disease" EXACT [MTH:NOCODE] +synonym: "increased blood pressure" EXACT [] +synonym: "pressure, high blood" EXACT [] synonym: "vascular hypertensive disorder" EXACT [DOID:10763, NCIT:C3117] xref: DOID:10763 {source="MONDO:equivalentTo", source="EFO:0000537"} xref: EFO:0000537 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -95427,12 +95431,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:217569"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial hypertrophic cardiomyopathy" NARROW [DOID:11984] +synonym: "familial hypertrophic cardiomyopathy" NARROW [] synonym: "HCM - hypertrophic cardiomyopathy" RELATED [] -synonym: "hypertrophic cardiomyopathy" EXACT CLINGEN_LABEL [] +synonym: "hypertrophic cardiomyopathy" EXACT CLINGEN_LABEL [DOID:11984, icd11.foundation:1830681485, NCIT:C34449] synonym: "hypertrophic obstructive cardiomyopathy" EXACT [DOID:11984] -synonym: "hypertrophic subaortic stenosis" EXACT [Orphanet:217569] -synonym: "obstructive hypertrophic cardiomyopathy" EXACT [Orphanet:217569] +synonym: "hypertrophic subaortic stenosis" EXACT [] +synonym: "obstructive hypertrophic cardiomyopathy" EXACT [] xref: DOID:11984 {source="MONDO:equivalentTo", source="EFO:0000538"} xref: EFO:0000538 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0001639 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0002-9584-9618"} @@ -95478,9 +95482,9 @@ subset: rare_grouping synonym: "disease of immune system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of immune system" EXACT [] synonym: "disorder of immune system" EXACT [MONDO:patterns/location_top, NCIT:C3507] -synonym: "immune disease" EXACT [DOID:2914] +synonym: "immune disease" EXACT [] synonym: "immune disorder" EXACT [NCIT:C3507] -synonym: "immune disorder, NOS" RELATED EXCLUDE [NCIT:C3507] +synonym: "immune disorder, NOS" RELATED EXCLUDE [] synonym: "immune dysfunction" EXACT [NCIT:C3507] synonym: "immune system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "immune system disorder" EXACT [NCIT:C3507] @@ -95520,7 +95524,7 @@ comment: Editor note: dubious as to whether this is a disease as defined, check subset: otar {source="MONDO:OTAR"} synonym: "fertility disorders" EXACT [NCIT:C3836] synonym: "infertile" EXACT [NCIT:C3836] -synonym: "infertility" RELATED [DOID:5223] +synonym: "infertility" RELATED [] synonym: "Sterile" EXACT [NCIT:C3836] synonym: "sterile" EXACT [NCIT:C3836] synonym: "sterility" EXACT [NCIT:C3836] @@ -95547,7 +95551,7 @@ subset: ordo_disorder {source="Orphanet:97279"} subset: orphanet_rare {source="Orphanet:97279"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "beta cell neoplasm" EXACT [NCIT:C3140] +synonym: "beta cell neoplasm" EXACT [] synonym: "Beta cell tumor" EXACT [NCIT:C3140] synonym: "Beta cell tumor of pancreas" EXACT [NCIT:C3140] synonym: "Beta cell tumor of the pancreas" EXACT [NCIT:C3140] @@ -95569,7 +95573,7 @@ synonym: "pancreatic insulin producing NET" EXACT [NCIT:C3140] synonym: "pancreatic insulin producing tumor" EXACT [NCIT:C3140] synonym: "pancreatic insulin producing tumour" EXACT OMO:0003005 [] synonym: "pancreatic insulin-producing neuroendocrine tumor" EXACT [NCIT:C3140] -synonym: "pancreatic insulin-producing tumor" EXACT [NCIT:C3140] +synonym: "pancreatic insulin-producing tumor" EXACT [] synonym: "pancreatic insulin-producing tumour" EXACT OMO:0003005 [] xref: EFO:0000549 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:3010 {source="MONDO:GARD"} @@ -95632,15 +95636,15 @@ synonym: "infiltrating lobular carcinoma of breast" EXACT [NCIT:C7950] synonym: "infiltrating lobular carcinoma of the breast" EXACT [NCIT:C7950] synonym: "invasive lobular adenocarcinoma" EXACT [NCIT:C7950] synonym: "invasive lobular breast carcinoma" EXACT [NCIT:C7950] -synonym: "invasive lobular carcinoma" EXACT [NCIT:C7950] +synonym: "invasive lobular carcinoma" EXACT [DOID:3457, NCIT:C7950] synonym: "invasive lobular carcinoma of breast" EXACT [NCIT:C7950] synonym: "invasive lobular carcinoma of the breast" EXACT [NCIT:C7950] synonym: "invasive lobular carcinoma, classic type" EXACT [NCIT:C7950] -synonym: "lobular carcinoma" BROAD [DOID:3457] -synonym: "lobular carcinoma (morphologic abnormality)" BROAD [DOID:3457] -synonym: "lobular carcinoma NOS (morphologic abnormality)" BROAD [DOID:3457] -synonym: "lobular carcinoma of breast" RELATED EXCLUDE [DOID:3457] -synonym: "lobular carcinoma of the breast" BROAD [DOID:3457] +synonym: "lobular carcinoma" BROAD [] +synonym: "lobular carcinoma (morphologic abnormality)" BROAD [] +synonym: "lobular carcinoma NOS (morphologic abnormality)" BROAD [] +synonym: "lobular carcinoma of breast" RELATED EXCLUDE [] +synonym: "lobular carcinoma of the breast" BROAD [] xref: DOID:3457 {source="MONDO:equivalentTo", source="EFO:0000553"} xref: EFO:0000553 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:75994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -95664,11 +95668,11 @@ def: "Irritable bowel syndrome (IBS) is a chronic functional condition of the lo subset: otar {source="MONDO:OTAR"} synonym: "IBD" EXACT ABBREVIATION [DOID:9778] synonym: "IBS" EXACT ABBREVIATION [NCIT:C82343] -synonym: "irritable bowel syndrome" EXACT [NCIT:C82343] -synonym: "irritable colon" EXACT [DOID:9778, NCIT:C82343] -synonym: "mucus colitis" EXACT [NCIT:C82343] +synonym: "irritable bowel syndrome" EXACT [DOID:9778, ICD10CM:K58, icd11.foundation:1158238623, NCIT:C82343] +synonym: "irritable colon" EXACT [DOID:9778, ICD10CM:K58, icd11.foundation:1158238623] +synonym: "mucus colitis" EXACT [] synonym: "psychogenic IBS" RELATED [DOID:9778] -synonym: "spastic colon" EXACT [NCIT:C82343] +synonym: "spastic colon" EXACT [ICD10CM:K58] xref: DOID:9778 {source="MONDO:equivalentTo", source="EFO:0000555"} xref: EFO:0000555 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K58 {source="DOID:9778", source="MONDO:equivalentTo"} @@ -95693,7 +95697,7 @@ name: ischemic disease def: "Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation." [NCIT:C34738] comment: Editor note: represented as a finding in other ontologies subset: otar {source="MONDO:OTAR"} -synonym: "ischemia" RELATED [DOID:326, NCIT:C34738] +synonym: "ischemia" RELATED [] xref: DOID:326 {source="MONDO:equivalentTo", source="EFO:0000556"} xref: MEDGEN:5899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D007511 {source="DOID:326", source="MONDO:equivalentTo", source="EFO:0000556"} @@ -95721,55 +95725,55 @@ subset: orphanet_rare {source="Orphanet:33276"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "African lymphadenopathic Kaposi's sarcoma" RELATED [DOID:8632] -synonym: "anal Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "cardiac Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "central nervous system Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "conjunctival Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "corneal Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "cutaneous Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "esophageal Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "gallbladder Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "gastric Kaposi's sarcoma" NARROW [DOID:8632] +synonym: "anal Kaposi's sarcoma" NARROW [] +synonym: "cardiac Kaposi's sarcoma" NARROW [] +synonym: "central nervous system Kaposi's sarcoma" NARROW [] +synonym: "conjunctival Kaposi's sarcoma" NARROW [] +synonym: "corneal Kaposi's sarcoma" NARROW [] +synonym: "cutaneous Kaposi's sarcoma" NARROW [] +synonym: "esophageal Kaposi's sarcoma" NARROW [] +synonym: "gallbladder Kaposi's sarcoma" NARROW [] +synonym: "gastric Kaposi's sarcoma" NARROW [] synonym: "HHV8" RELATED ABBREVIATION [GARD:0006814] synonym: "human herpesvirus 8" RELATED [GARD:0006814] -synonym: "intestinal Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "Kaposi sarcoma" EXACT [DOID:8632, MONDO:0018049, NCIT:C9087] +synonym: "intestinal Kaposi's sarcoma" NARROW [] +synonym: "Kaposi sarcoma" EXACT [DOID:8632, MONDO:0018049, NCIT:C9087, Orphanet:33276] synonym: "Kaposi sarcoma herpesvirus" RELATED [GARD:0006814] -synonym: "Kaposi's sarcoma" EXACT [MONDO:ambiguous, NCIT:C9087] +synonym: "Kaposi's sarcoma" EXACT [DOID:8632, MONDO:ambiguous, NCIT:C9087] synonym: "Kaposi's sarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "Kaposi's sarcoma of anus" NARROW [DOID:8632] -synonym: "Kaposi's sarcoma of central nervous system" NARROW [DOID:8632] +synonym: "Kaposi's sarcoma of anus" NARROW [] +synonym: "Kaposi's sarcoma of central nervous system" NARROW [] synonym: "Kaposi's sarcoma of conjunctiva" EXACT [DOID:8632] synonym: "Kaposi's sarcoma of cornea" EXACT [DOID:8632] -synonym: "Kaposi's sarcoma of esophagus" NARROW [DOID:8632] -synonym: "Kaposi's sarcoma of gastrointestinal sites" NARROW [DOID:8632] -synonym: "Kaposi's sarcoma of heart" NARROW [DOID:8632] +synonym: "Kaposi's sarcoma of esophagus" NARROW [] +synonym: "Kaposi's sarcoma of gastrointestinal sites" NARROW [] +synonym: "Kaposi's sarcoma of heart" NARROW [] synonym: "Kaposi's sarcoma of lung" EXACT [DOID:8632] -synonym: "Kaposi's sarcoma of lymph nodes" NARROW [DOID:8632] +synonym: "Kaposi's sarcoma of lymph nodes" NARROW [] synonym: "Kaposi's sarcoma of oesophagus" NARROW OMO:0003005 [] synonym: "Kaposi's sarcoma of palate" EXACT [DOID:8632] -synonym: "Kaposi's sarcoma of penis" NARROW [DOID:8632] -synonym: "Kaposi's sarcoma of skin" NARROW [DOID:8632] +synonym: "Kaposi's sarcoma of penis" NARROW [] +synonym: "Kaposi's sarcoma of skin" NARROW [] synonym: "Kaposi's sarcoma of soft tissue" EXACT [DOID:8632] synonym: "Kaposi's sarcoma of soft tissues" EXACT [DOID:8632] -synonym: "Kaposi's sarcoma of the CNS" NARROW [DOID:8632] -synonym: "Kaposi's sarcoma of the gallbladder" NARROW [DOID:8632] -synonym: "Kaposi's sarcoma of the prostate" NARROW [DOID:8632] -synonym: "Kaposi's sarcoma, lung" NARROW [DOID:8632] -synonym: "Kaposi's sarcoma, skin" NARROW [DOID:8632] +synonym: "Kaposi's sarcoma of the CNS" NARROW [] +synonym: "Kaposi's sarcoma of the gallbladder" NARROW [] +synonym: "Kaposi's sarcoma of the prostate" NARROW [] +synonym: "Kaposi's sarcoma, lung" NARROW [] +synonym: "Kaposi's sarcoma, skin" NARROW [] synonym: "Kaposi's sarcoma-associated herpesvirus (KSHV)" RELATED [DOID:8632] synonym: "KS" EXACT ABBREVIATION [NCIT:C9087] synonym: "KSHV" RELATED ABBREVIATION [GARD:0006814] -synonym: "lymph node Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "lymphadenopathic Kaposi's sarcoma" NARROW [DOID:8632] +synonym: "lymph node Kaposi's sarcoma" NARROW [] +synonym: "lymphadenopathic Kaposi's sarcoma" NARROW [] synonym: "Mediterranean Kaposi sarcoma" RELATED [GARD:0006814] -synonym: "multiple hemorrhagic sarcoma" NARROW [NCIT:C9087] +synonym: "multiple hemorrhagic sarcoma" NARROW [] synonym: "non AIDS related Kaposi sarcoma" RELATED [GARD:0006814] -synonym: "palate Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "penis Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "prostate Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "pulmonary Kaposi's sarcoma" NARROW [DOID:8632] -synonym: "soft tissue Kaposi's sarcoma" NARROW [DOID:8632] +synonym: "palate Kaposi's sarcoma" NARROW [] +synonym: "penis Kaposi's sarcoma" NARROW [] +synonym: "prostate Kaposi's sarcoma" NARROW [] +synonym: "pulmonary Kaposi's sarcoma" NARROW [] +synonym: "soft tissue Kaposi's sarcoma" NARROW [] xref: DOID:8632 {source="MONDO:equivalentTo", source="EFO:0000558"} xref: EFO:0000558 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6814 {source="MONDO:GARD"} @@ -95809,7 +95813,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "keratinizing epidermoid carcinoma" EXACT [DOID:5521] synonym: "keratinizing squamous cell carcinoma" EXACT [DOID:5521, NCIT:C4105] synonym: "squamous cell carcinoma, keratinizing" EXACT [DOID:5521] -synonym: "squamous cell carcinoma, keratinizing (morphologic abnormality)" EXACT [DOID:5521] +synonym: "squamous cell carcinoma, keratinizing (morphologic abnormality)" EXACT [] xref: DOID:5521 {source="MONDO:equivalentTo", source="EFO:0000559"} xref: EFO:0000559 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8071/3 {source="NCIT:C4105"} @@ -95828,7 +95832,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "large cell NEC" EXACT [NCIT:C6875] -synonym: "large cell neuroendocrine carcinoma" EXACT [NCIT:C6875] +synonym: "large cell neuroendocrine carcinoma" EXACT [DOID:0050872, NCIT:C6875] synonym: "large-cell neuroendocrine carcinoma" EXACT [NCIT:C6875] synonym: "LCNEC" EXACT ABBREVIATION [NCIT:C6875] xref: DOID:0050872 {source="EFO:0000563", source="MONDO:equivalentTo"} @@ -95857,9 +95861,9 @@ subset: ordo_disorder {source="Orphanet:64720"} subset: orphanet_rare {source="Orphanet:64720"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "leiomyosarcoma" EXACT [NCIT:C3158] -synonym: "leiomyosarcoma (excluding uterine leiomyosarcoma)" EXACT [NCIT:C3158] -synonym: "leiomyosarcoma - not uterine" EXACT [NCIT:C3158] +synonym: "leiomyosarcoma" EXACT [DOID:1967, NCIT:C3158, Orphanet:64720] +synonym: "leiomyosarcoma (excluding uterine leiomyosarcoma)" EXACT [] +synonym: "leiomyosarcoma - not uterine" EXACT [] synonym: "leiomyosarcoma, malignant" EXACT [NCIT:C3158] synonym: "Leiomyosarcomas" EXACT [DOID:1967, NCIT:C3158] xref: DOID:1967 {source="MONDO:equivalentTo", source="EFO:0000564"} @@ -95896,12 +95900,12 @@ subset: rare synonym: "blood (leukemia)" EXACT [NCIT:C3161] synonym: "leukaemia (disease)" EXACT OMO:0003005 [] synonym: "leukaemia NOS" RELATED OMO:0003005 [] -synonym: "leukemia" EXACT [MONDO:ambiguous, NCIT:C3161] +synonym: "leukemia" EXACT [DOID:1240, MONDO:ambiguous, NCIT:C3161] synonym: "leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "leukemia NOS" RELATED EXCLUDE [NCIT:C3161] +synonym: "leukemia NOS" RELATED EXCLUDE [] synonym: "leukemia, disease" EXACT [NCIT:C3161] synonym: "leukemia, malignant" EXACT [NCIT:C3161] -synonym: "leukemia, NOS" RELATED EXCLUDE [NCIT:C3161] +synonym: "leukemia, NOS" RELATED EXCLUDE [] synonym: "leukemias" EXACT [NCIT:C3161] synonym: "leukemias, general" EXACT [NCIT:C3161] xref: DOID:1240 {source="EFO:0000565", source="MONDO:equivalentTo"} @@ -95950,8 +95954,8 @@ subset: orphanet_rare {source="Orphanet:69078"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lip sarcoma" EXACT [MONDO:patterns/location] -synonym: "liposarcoma" EXACT [NCIT:C3194] -synonym: "liposarcoma not otherwise specified" RELATED EXCLUDE [NCIT:C3194] +synonym: "liposarcoma" EXACT [DOID:3382, NCIT:C3194, Orphanet:69078] +synonym: "liposarcoma not otherwise specified" RELATED EXCLUDE [] synonym: "liposarcoma, malignant" EXACT [NCIT:C3194] synonym: "sarcoma of lip" EXACT [MONDO:patterns/sarcoma] xref: DOID:3382 {source="MONDO:equivalentTo", source="EFO:0000569"} @@ -95988,10 +95992,10 @@ def: "A carcinoma that arises from the lung and is characterized by the presence subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenocarcinoma of lung" EXACT [DOID:3910, NCIT:C3512] +synonym: "adenocarcinoma of lung" EXACT [NCIT:C3512] synonym: "adenocarcinoma of the lung" EXACT [NCIT:C3512] synonym: "bronchogenic lung adenocarcinoma" EXACT [DOID:3910] -synonym: "lung adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C3512] +synonym: "lung adenocarcinoma" EXACT [DOID:3910, MONDO:patterns/location, NCIT:C3512] synonym: "non-small cell lung adenocarcinoma" EXACT [MONDO:0005474] synonym: "nonsmall cell adenocarcinoma" EXACT [DOID:3910] xref: DOID:3910 {source="EFO:0005288", source="EFO:0000571", source="MONDO:equivalentTo"} @@ -96022,11 +96026,11 @@ subset: ordo_group_of_disorders {source="Orphanet:223735"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lymphoid cancer" EXACT [DOID:0060058] -synonym: "lymphoma" EXACT [MONDO:0016389, NCIT:C3208] +synonym: "lymphoma" EXACT [DOID:0060058, MONDO:0016389, NCIT:C3208, Orphanet:223735] synonym: "lymphoma (Hodgkin and non-Hodgkin)" EXACT [NCIT:C3208] synonym: "lymphoma (Hodgkin's and non-Hodgkin's)" EXACT [NCIT:C3208] synonym: "lymphoma, malignant" EXACT [NCIT:C3208] -synonym: "lymphoma, NOS" RELATED EXCLUDE [NCIT:C3208] +synonym: "lymphoma, NOS" RELATED EXCLUDE [] synonym: "lymphomatous" EXACT [NCIT:C3208] synonym: "malignant lymphoma" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C3208] synonym: "MLYM" RELATED ABBREVIATION [ONCOTREE:MLYM] @@ -96069,7 +96073,7 @@ id: MONDO:0005063 name: medullary breast carcinoma def: "An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent." [NCIT:C9119] subset: otar {source="MONDO:OTAR"} -synonym: "breast medullary carcinoma" RELATED [DOID:5605] +synonym: "breast medullary carcinoma" RELATED [] synonym: "infiltrating medullary carcinoma of breast" EXACT [NCIT:C9119] synonym: "infiltrating medullary carcinoma of the breast" EXACT [NCIT:C9119] synonym: "invasive medullary breast carcinoma" EXACT [NCIT:C9119] @@ -96078,7 +96082,7 @@ synonym: "invasive medullary carcinoma of the breast" EXACT [NCIT:C9119] synonym: "medullary breast cancer" EXACT [NCIT:C9119] synonym: "medullary breast carcinoma" EXACT [NCIT:C9119] synonym: "medullary breast carcinoma with lymphoid Stroma" EXACT [DOID:5605, NCIT:C9119] -synonym: "medullary carcinoma of breast" EXACT [DOID:5605, NCIT:C9119] +synonym: "medullary carcinoma of breast" EXACT [NCIT:C9119] synonym: "medullary carcinoma of the breast" EXACT [NCIT:C9119] xref: DOID:5605 {source="EFO:0000580", source="MONDO:equivalentTo"} xref: EFO:0000580 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -96102,7 +96106,7 @@ id: MONDO:0005065 name: mesothelioma def: "A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos." [NCIT:C3234] subset: otar {source="MONDO:OTAR"} -synonym: "mesothelioma" EXACT [NCIT:C3234] +synonym: "mesothelioma" EXACT [ICD10CM:C45] xref: EFO:0000588 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C45 {source="MONDO:equivalentTo"} xref: MEDGEN:9975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -96119,7 +96123,7 @@ def: "A congenital disorder (due to inherited enzyme abnormality) or acquired (d subset: harrisons_view subset: otar {source="MONDO:OTAR"} subset: rare_grouping -synonym: "disease of metabolism" RELATED [DOID:0014667] +synonym: "disease of metabolism" RELATED [] synonym: "disorder of metabolic process" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "metabolic disease" EXACT [DOID:0014667, NCIT:C3235] synonym: "metabolic disorder" EXACT [NCIT:C3235] @@ -96156,7 +96160,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "monophasic sarcoma of synovium" EXACT [DOID:5495, NCIT:C6534] synonym: "monophasic sarcoma of the synovium" EXACT [NCIT:C6534] -synonym: "monophasic synovial sarcoma" EXACT [NCIT:C6534] +synonym: "monophasic synovial sarcoma" EXACT [DOID:5495, NCIT:C6534] xref: DOID:5495 {source="EFO:0000595", source="MONDO:equivalentTo"} xref: EFO:0000595 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:233719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -96169,14 +96173,14 @@ id: MONDO:0005068 name: myocardial infarction def: "Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis." [NCIT:C27996] subset: otar {source="MONDO:OTAR"} -synonym: "heart attack" EXACT [DOID:5844] -synonym: "infarction (MI), myocardial" EXACT [NCIT:C27996] +synonym: "heart attack" EXACT [DOID:5844, NCIT:C27996] +synonym: "infarction (MI), myocardial" EXACT [] synonym: "MI" EXACT ABBREVIATION [NCIT:C27996] -synonym: "MI, myocardial infarction" EXACT [NCIT:C27996] -synonym: "myocardial infarct" EXACT [DOID:5844] -synonym: "myocardial infarction" EXACT [MONDO:ambiguous] +synonym: "MI, myocardial infarction" EXACT [] +synonym: "myocardial infarct" EXACT [DOID:5844, NCIT:C27996] +synonym: "myocardial infarction" EXACT [DOID:5844, MONDO:ambiguous, NCIT:C27996] synonym: "myocardial infarction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "myocardial infarction, (MI)" EXACT [NCIT:C27996] +synonym: "myocardial infarction, (MI)" EXACT [] xref: DOID:5844 {source="MONDO:equivalentTo", source="EFO:0000612"} xref: EFO:0000612 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0001658 {source="MONDO:otherHierarchy"} @@ -96211,15 +96215,15 @@ id: MONDO:0005070 name: neoplasm def: "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." [NCIT:C3262] subset: otar {source="MONDO:OTAR"} -synonym: "cell process disease" BROAD DUBIOUS [DOID:14566] -synonym: "disease of cellular proliferation" EXACT [MONDO:0002001] +synonym: "cell process disease" BROAD DUBIOUS [] +synonym: "disease of cellular proliferation" EXACT [DOID:14566, MONDO:0002001] synonym: "neoplasia" EXACT [NCIT:C3262] synonym: "neoplasm" EXACT [DOID:14566, MONDO:ambiguous, NCIT:C3262] synonym: "neoplasm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "neoplastic disease" EXACT [NCIT:C3262] synonym: "neoplastic growth" EXACT [NCIT:C3262] -synonym: "other neoplasm" NARROW [NCIT:C3262] -synonym: "tumor" EXACT [NCIT:C3262] +synonym: "other neoplasm" NARROW [] +synonym: "tumor" EXACT [] synonym: "tumor disease" EXACT [] synonym: "tumour" EXACT OMO:0003005 [] synonym: "tumour disease" EXACT OMO:0003005 [] @@ -96259,13 +96263,13 @@ subset: rare_grouping synonym: "disease of nervous system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of nervous system" EXACT [] synonym: "disorder of nervous system" EXACT [MONDO:patterns/location_top, NCIT:C26835] -synonym: "nervous system disease" EXACT [MONDO:patterns/location] +synonym: "nervous system disease" EXACT [DOID:863, MONDO:patterns/location] synonym: "nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "nervous system disorder" EXACT [NCIT:C26835] -synonym: "neurologic disease" EXACT [DOID:863] -synonym: "neurologic disorder" EXACT [DOID:863, ISBN-13:978-1-259-64403-0, NCIT:C26835] -synonym: "neurological disease" EXACT [DOID:863] -synonym: "neurological disorder" EXACT [DOID:863] +synonym: "neurologic disease" EXACT [] +synonym: "neurologic disorder" EXACT [ISBN-13:978-1-259-64403-0, NCIT:C26835] +synonym: "neurological disease" EXACT [] +synonym: "neurological disorder" EXACT [NCIT:C26835] xref: DOID:863 {source="EFO:0000618", source="MONDO:equivalentTo"} xref: EFO:0000618 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G00-G09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -96303,8 +96307,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "NB" RELATED ABBREVIATION [GARD:0007185] synonym: "neural Crest tumor, malignant" EXACT [NCIT:C3270] -synonym: "neuroblastoma" EXACT [NCIT:C3270] -synonym: "neuroblastoma (Schwannian Stroma-poor)" EXACT [DOID:769, NCIT:C3270] +synonym: "neuroblastoma" EXACT [DOID:769, NCIT:C3270, Orphanet:635] +synonym: "neuroblastoma (Schwannian Stroma-poor)" EXACT [NCIT:C3270] synonym: "neuroblastoma, malignant" EXACT [NCIT:C3270] xref: DOID:769 {source="MONDO:equivalentTo", source="EFO:0000621"} xref: EFO:0000621 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -96340,7 +96344,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "melanocytic Nevus" EXACT [NCIT:C7570] synonym: "melanotic Nevus" EXACT [NCIT:C7570] synonym: "mole" EXACT [NCIT:C7570] -synonym: "mole of skin" EXACT [NCIT:C7570] +synonym: "mole of skin" EXACT [] synonym: "nevus" EXACT [NCIT:C7570] xref: EFO:0009675 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:14364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -96361,8 +96365,8 @@ def: "A malignant cystic serous or mucinous epithelial neoplasm characterized by subset: otar {source="MONDO:OTAR"} synonym: "cystadenocarcinoma, papillary, malignant" EXACT [NCIT:C3777] synonym: "papillary cystadenocarcinoma" EXACT [DOID:3110, NCIT:C3777] -synonym: "papillary cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3110] -synonym: "papillary cystadenocarcinoma, NOS (morphologic abnormality)" EXACT [DOID:3110] +synonym: "papillary cystadenocarcinoma (morphologic abnormality)" EXACT [] +synonym: "papillary cystadenocarcinoma, NOS (morphologic abnormality)" EXACT [] xref: DOID:3110 {source="MONDO:equivalentTo", source="EFO:0000639"} xref: EFO:0000639 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8450/3 {source="NCIT:C3777"} @@ -96390,13 +96394,13 @@ synonym: "papillary cancer of thyroid" EXACT [NCIT:C4035] synonym: "papillary cancer of thyroid gland" EXACT [NCIT:C4035] synonym: "papillary carcinoma of the thyroid" EXACT [NCIT:C4035] synonym: "papillary carcinoma of the thyroid gland" EXACT [DOID:3969, NCIT:C4035] -synonym: "papillary carcinoma of thyroid" EXACT [NCIT:C4035] +synonym: "papillary carcinoma of thyroid" EXACT [DOID:3969, NCIT:C4035] synonym: "papillary carcinoma of thyroid gland" EXACT [NCIT:C4035] synonym: "papillary thyroid cancer" EXACT [NCIT:C4035] -synonym: "papillary thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C4035] +synonym: "papillary thyroid carcinoma" EXACT [DOID:3969, MONDO:ambiguous, NCIT:C4035] synonym: "papillary thyroid gland carcinoma" EXACT [NCIT:C4035] synonym: "thyroid gland papillary cancer" EXACT [NCIT:C4035] -synonym: "thyroid gland papillary carcinoma" EXACT [NCIT:C4035] +synonym: "thyroid gland papillary carcinoma" EXACT [DOID:3969, NCIT:C4035] synonym: "thyroid papillary carcinoma" EXACT [NCIT:C4035] xref: DOID:3969 {source="MONDO:equivalentTo", source="EFO:0000641"} xref: EFO:0000641 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -96424,7 +96428,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "chronic pericementitis" EXACT [DOID:824] synonym: "inflammation of periodontium" EXACT [] synonym: "periodontium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "periodontosis" RELATED DEPRECATED [DOID:9893, https://en.wikipedia.org/wiki/Periodontosis] +synonym: "periodontosis" RELATED DEPRECATED [https://en.wikipedia.org/wiki/Periodontosis] xref: DOID:824 {source="MONDO:equivalentTo", source="EFO:0000649"} xref: DOID:9893 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:0000649 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -96455,15 +96459,15 @@ subset: ordo_disorder {source="Orphanet:1489"} subset: orphanet_rare {source="Orphanet:1489"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bordetella infection" BROAD [DOID:1116] +synonym: "Bordetella infection" BROAD [] synonym: "Bordetella pertussis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bordetella pertussis disease or disorder" EXACT [] synonym: "Bordetella pertussis infection" EXACT [GARD:0008692] synonym: "Bordetella pertussis infectious disease" EXACT [] synonym: "infection due to Bordetella pertussis" RELATED [] -synonym: "pertussis" EXACT [Orphanet:1489] +synonym: "pertussis" EXACT [DOID:1116, NCIT:C85231, Orphanet:1489] synonym: "WC - whooping cough" EXACT [DOID:1116] -synonym: "whooping cough" EXACT [DOID:1116] +synonym: "whooping cough" EXACT [DOID:1116, NCIT:C85231, Orphanet:1489] xref: DOID:1116 {source="EFO:0000650", source="MONDO:equivalentTo"} xref: EFO:0000650 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:8692 {source="MONDO:GARD"} @@ -96501,7 +96505,7 @@ name: phyllodes tumor def: "A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors." [NCIT:C2977] comment: Note that this class covers both breast and prostate phyllodes tumors subset: otar {source="MONDO:OTAR"} -synonym: "CSP" EXACT ABBREVIATION [NCIT:C2977] +synonym: "CSP" EXACT ABBREVIATION [] synonym: "cystosarcoma phyllodes" EXACT [NCIT:C2977] synonym: "phyllodes neoplasm" EXACT [NCIT:C2977] synonym: "phyllodes tumor" EXACT [NCIT:C2977] @@ -96562,16 +96566,16 @@ subset: rare synonym: "gestational hypertension" EXACT [DOID:10591] synonym: "hypertension induced by pregnancy" EXACT [DOID:10591] synonym: "pre-eclampsia" EXACT [DOID:10591] -synonym: "pre-eclamptic toxaemia" EXACT OMO:0003005 [] -synonym: "pre-eclamptic toxemia" EXACT [DOID:10591] -synonym: "preeclampsia" EXACT [DOID:10591] -synonym: "preeclampsia/eclampsia" EXACT [DOID:10591] -synonym: "pregnancy associated hypertension" EXACT [DOID:10591, NCIT:C4371] +synonym: "pre-eclamptic toxaemia" EXACT OMO:0003005 [DOID:10591] +synonym: "pre-eclamptic toxemia" EXACT [] +synonym: "preeclampsia" EXACT [DOID:10591, NCIT:C85021, Orphanet:275555] +synonym: "preeclampsia/eclampsia" EXACT [DOID:10591, OMIMPS:189800] +synonym: "pregnancy associated hypertension" EXACT [DOID:10591] synonym: "pregnancy toxaemia" EXACT OMO:0003005 [] synonym: "pregnancy toxemia" EXACT [DOID:10591] synonym: "proteinuric hypertension of pregnancy" EXACT [DOID:10591] synonym: "toxaemia of pregnancy" RELATED OMO:0003005 [] -synonym: "toxemia of pregnancy" RELATED [DOID:10591] +synonym: "toxemia of pregnancy" RELATED [] xref: DOID:10591 {source="MONDO:equivalentTo", source="EFO:0000668"} xref: EFO:0000668 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:12924 {source="MONDO:GARD"} @@ -96621,7 +96625,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "adenocarcinoma of prostate" EXACT [NCIT:C2919] synonym: "adenocarcinoma of the prostate" EXACT [NCIT:C2919] synonym: "prad" RELATED [ONCOTREE:PRAD] -synonym: "prostate adenocarcinoma" EXACT [NCIT:C2919] +synonym: "prostate adenocarcinoma" EXACT [DOID:2526, NCIT:C2919] synonym: "prostate gland adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:2526 {source="EFO:0000673", source="MONDO:equivalentTo"} xref: EFO:0000673 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -96674,7 +96678,7 @@ name: mental disorder def: "A disease that has its basis in the disruption of mental process." [MONDO:patterns/basis_in_disruption_of_process] subset: otar {source="MONDO:OTAR"} synonym: "disorder of mental process" EXACT [MONDO:patterns/basis_in_disruption_of_process] -synonym: "mental or behavioral disorder" EXACT [DOID:2468] +synonym: "mental or behavioral disorder" EXACT [] synonym: "mental or behavioural disorder" EXACT OMO:0003005 [] synonym: "mental process disease" EXACT [MONDO:design_pattern] xref: DOID:150 {source="MONDO:relatedTo", source="EFO:0000677"} @@ -96738,12 +96742,12 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1657"} subset: ordo_group_of_disorders {source="Orphanet:217071"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenocarcinoma of kidney" RELATED EXCLUDE [DOID:4450] +synonym: "adenocarcinoma of kidney" RELATED EXCLUDE [] synonym: "hypernephroma" EXACT [DOID:4450] synonym: "kidney adenocarcinoma" RELATED [MONDO:patterns/location] synonym: "RCC" EXACT ABBREVIATION [DOID:4450, Orphanet:217071] synonym: "renal cell adenocarcinoma" RELATED [GARD:0013215] -synonym: "renal cell carcinoma" EXACT [MONDO:ambiguous] +synonym: "renal cell carcinoma" EXACT [DOID:4450, MONDO:ambiguous, Orphanet:217071] synonym: "renal cell carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4450 {source="EFO:0000681", source="MONDO:equivalentTo"} xref: EFO:0000681 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -96778,9 +96782,9 @@ subset: rare_grouping synonym: "disease of respiratory system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of respiratory system" EXACT [] synonym: "disorder of respiratory system" EXACT [MONDO:patterns/location_top, NCIT:C26871] -synonym: "respiratory disease" EXACT [DOID:1579] +synonym: "respiratory disease" EXACT [] synonym: "respiratory disorder" EXACT [NCIT:C26871] -synonym: "respiratory system disease" EXACT [MONDO:patterns/location] +synonym: "respiratory system disease" EXACT [DOID:1579, MONDO:patterns/location] synonym: "respiratory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "respiratory system disorder" EXACT [NCIT:C26871] xref: DOID:1579 {source="EFO:0000684", source="MONDO:equivalentTo"} @@ -96836,13 +96840,13 @@ id: MONDO:0005089 name: sarcoma def: "A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma." [NCIT:C9118] subset: otar {source="MONDO:OTAR"} -synonym: "connective and soft tissue neoplasm" RELATED EXCLUDE [DOID:1115] +synonym: "connective and soft tissue neoplasm" RELATED EXCLUDE [] synonym: "mesenchymal tumor, malignant" EXACT [NCIT:C9118] -synonym: "sarcoma" EXACT [NCIT:C9118] +synonym: "sarcoma" EXACT [DOID:1115, NCIT:C9118] synonym: "sarcoma of soft tissue and bone" EXACT [NCIT:C9118] synonym: "sarcoma of the soft tissue and bone" EXACT [NCIT:C9118] synonym: "sarcoma, malignant" EXACT [NCIT:C9118] -synonym: "tumor of soft tissue and skeleton" RELATED [DOID:1115, NCIT:C3810] +synonym: "tumor of soft tissue and skeleton" RELATED [] synonym: "tumour of soft tissue and skeleton" RELATED OMO:0003005 [] xref: DOID:1115 {source="EFO:0000691", source="MONDO:equivalentTo"} xref: EFO:0000691 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -96873,14 +96877,14 @@ id: MONDO:0005090 name: schizophrenia def: "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "schizoaffective disorder" RELATED [OMIM:181500] -synonym: "schizophrenia" EXACT CLINGEN_LABEL [MONDO:ambiguous, MONDO:Lexical, OMIM:181500] +synonym: "schizoaffective disorder" RELATED [] +synonym: "schizophrenia" EXACT CLINGEN_LABEL [DOID:5419, icd11.foundation:1683919430, MONDO:ambiguous, MONDO:Lexical, NCIT:C3362, OMIM:181500] synonym: "schizophrenia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "schizophrenia 12" BROAD [OMIM:181500, OMIM:genemap2] -synonym: "schizophrenia with or without an affective disorder" RELATED [OMIM:181500] -synonym: "schizophrenia, susceptibility to" RELATED [OMIM:181500, OMIM:genemap2] +synonym: "schizophrenia 12" BROAD [] +synonym: "schizophrenia with or without an affective disorder" RELATED [] +synonym: "schizophrenia, susceptibility to" RELATED [] synonym: "schizophrenia-1" EXACT [DOID:5419] -synonym: "SCZD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181500] +synonym: "SCZD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:5419 {source="EFO:0000692", source="MONDO:equivalentTo"} xref: HP:0100753 {source="MONDO:otherHierarchy", source="DOID:5419"} xref: ICD10CM:F20-F29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -96915,7 +96919,7 @@ subset: orphanet_rare {source="Orphanet:140896"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute respiratory coronavirus infection" EXACT [] -synonym: "SARS" EXACT ABBREVIATION [DOID:2945] +synonym: "SARS" EXACT ABBREVIATION [DOID:2945, NCIT:C85064, Orphanet:140896] synonym: "SARS coronavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "SARS coronavirus disease or disorder" EXACT [] synonym: "SARS coronavirus infectious disease" EXACT [] @@ -96950,10 +96954,10 @@ name: signet ring cell carcinoma def: "A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland." [NCIT:C3774] subset: otar {source="MONDO:OTAR"} synonym: "signet ring carcinoma" EXACT [DOID:3493] -synonym: "signet ring carcinoma NOS (morphologic abnormality)" EXACT [DOID:3493] +synonym: "signet ring carcinoma NOS (morphologic abnormality)" EXACT [] synonym: "signet ring cell adenocarcinoma" EXACT [DOID:3493, NCIT:C3774] synonym: "signet ring cell carcinoma" EXACT [DOID:3493, NCIT:C3774] -synonym: "signet ring cell carcinoma (morphologic abnormality)" EXACT [DOID:3493] +synonym: "signet ring cell carcinoma (morphologic abnormality)" EXACT [] xref: DOID:3493 {source="MONDO:equivalentTo", source="EFO:0000698"} xref: EFO:0000698 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8490/3 {source="NCIT:C3774"} @@ -96978,7 +96982,7 @@ synonym: "disease of zone of skin" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of zone of skin" EXACT [] synonym: "disorder of skin" EXACT [NCIT:C3371] synonym: "disorder of zone of skin" EXACT [MONDO:patterns/location_top] -synonym: "genodermatosis" NARROW [DOID:37] +synonym: "genodermatosis" NARROW [] synonym: "skin and subcutaneous tissue disease" EXACT [DOID:37] synonym: "skin diseases and manifestations" EXACT [NCIT:C3371] synonym: "skin disorder" EXACT [NCIT:C3371] @@ -97029,11 +97033,11 @@ name: hemangiopericytoma def: "An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces." [NCIT:C3087] subset: otar {source="MONDO:OTAR"} synonym: "haemangiopericytic meningioma" EXACT [DOID:264] -synonym: "haemangiopericytic meningioma [obs]" EXACT [DOID:264] -synonym: "hemangiopericytoma" EXACT [MONDO:0021188, NCIT:C3087] -synonym: "hemangiopericytoma, malignant" RELATED EXCLUDE [DOID:264] -synonym: "hemangiopericytoma, malignant (morphologic abnormality)" NARROW [DOID:264] -synonym: "malignant hemangiopericytoma" NARROW [DOID:264] +synonym: "haemangiopericytic meningioma [obs]" EXACT [] +synonym: "hemangiopericytoma" EXACT [DOID:264, MONDO:0021188, NCIT:C3087] +synonym: "hemangiopericytoma, malignant" RELATED EXCLUDE [] +synonym: "hemangiopericytoma, malignant (morphologic abnormality)" NARROW [] +synonym: "malignant hemangiopericytoma" NARROW [] xref: DOID:264 {source="MONDO:equivalentTo", source="EFO:0000705"} xref: ICDO:9150/1 {source="NCIT:C3087"} xref: MEDGEN:5478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -97082,14 +97086,14 @@ synonym: "malignant epidermoid cell neoplasm" EXACT [NCIT:C2929] synonym: "malignant epidermoid cell tumor" EXACT [NCIT:C2929] synonym: "malignant epidermoid cell tumour" EXACT OMO:0003005 [] synonym: "malignant squamous cell neoplasm" EXACT [NCIT:C2929] -synonym: "malignant squamous cell tumor" EXACT [DOID:1749, NCIT:C2929, NCIT:C4971] +synonym: "malignant squamous cell tumor" EXACT [DOID:1749, NCIT:C2929] synonym: "malignant squamous cell tumour" EXACT OMO:0003005 [] synonym: "squamous carcinoma" EXACT [DOID:1749, NCIT:C2929] synonym: "squamous cell cancer" EXACT [DOID:1749, NCIT:C2929] -synonym: "squamous cell carcinoma" EXACT [NCIT:C2929] -synonym: "squamous cell carcinoma (morphologic abnormality)" EXACT [DOID:1749] -synonym: "squamous cell carcinoma NOS (morphologic abnormality)" EXACT [DOID:1749] -synonym: "squamous cell epithelioma" EXACT [DOID:1749, NCIT:C2929, NCIT:C8999] +synonym: "squamous cell carcinoma" EXACT [DOID:1749, NCIT:C2929] +synonym: "squamous cell carcinoma (morphologic abnormality)" EXACT [] +synonym: "squamous cell carcinoma NOS (morphologic abnormality)" EXACT [] +synonym: "squamous cell epithelioma" EXACT [DOID:1749, NCIT:C2929] xref: DOID:1749 {source="EFO:0000707", source="MONDO:equivalentTo"} xref: EFO:0000707 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8070/3 {source="NCIT:C2929"} @@ -97116,8 +97120,8 @@ subset: otar {source="MONDO:OTAR"} synonym: "epidermoid cell carcinoma of lung" EXACT [NCIT:C3493] synonym: "epidermoid cell carcinoma of the lung" EXACT [DOID:3907, NCIT:C3493] synonym: "epidermoid cell lung carcinoma" EXACT [NCIT:C3493] -synonym: "lung squamous cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "squamous cell carcinoma of lung" EXACT [DOID:3907, NCIT:C3493] +synonym: "lung squamous cell carcinoma" EXACT [DOID:3907, MONDO:patterns/location, NCIT:C3493] +synonym: "squamous cell carcinoma of lung" EXACT [NCIT:C3493] synonym: "squamous cell carcinoma of the lung" EXACT [NCIT:C3493] synonym: "squamous cell lung cancer" EXACT [NCIT:C3493] synonym: "squamous cell lung carcinoma" EXACT [NCIT:C3493] @@ -97142,15 +97146,15 @@ name: stroke disorder def: "A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event." [NCIT:C3390] comment: Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy. (https://www.epilepsydiagnosis.org/etiology/stroke-overview.html, https://orcid.org/0000-0001-5208-3432) subset: otar {source="MONDO:OTAR"} -synonym: "cerebral infarction" RELATED [NCIT:C3390] +synonym: "cerebral infarction" RELATED [] synonym: "cerebrovascular accident" EXACT [NCIT:C3390] -synonym: "cerebrovascular accident, (CVA)" EXACT [NCIT:C3390] +synonym: "cerebrovascular accident, (CVA)" EXACT [] synonym: "CVA" EXACT ABBREVIATION [NCIT:C3390] -synonym: "CVA, cerebrovascular accident" EXACT [NCIT:C3390] +synonym: "CVA, cerebrovascular accident" EXACT [] synonym: "stroke" EXACT [NCIT:C3390] synonym: "stroke syndrome" EXACT [NCIT:C3390] -synonym: "syndrome, stroke" EXACT [NCIT:C3390] -synonym: "undetermined stroke" EXACT [NCIT:C3390] +synonym: "syndrome, stroke" EXACT [] +synonym: "undetermined stroke" EXACT [] xref: EFO:0000712 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0001297 xref: MEDGEN:52522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -97200,19 +97204,19 @@ subset: rare synonym: "diffuse Scleroderma" EXACT [NCIT:C72070] synonym: "diffuse sclerosis" EXACT [NCIT:C72070] synonym: "progressive systemic sclerosis" EXACT [DOID:418] -synonym: "PSS" RELATED EXCLUDE [DOID:418] -synonym: "PSS (progressive systemic sclerosis)" EXACT [DOID:418] -synonym: "Scleroderma" BROAD [DOID:418] -synonym: "Scleroderma (& [systemic sclerosis])" EXACT [DOID:418] +synonym: "PSS" RELATED EXCLUDE [] +synonym: "PSS (progressive systemic sclerosis)" EXACT [] +synonym: "Scleroderma" BROAD [] +synonym: "Scleroderma (& [systemic sclerosis])" EXACT [] synonym: "Scleroderma syndrome" EXACT [DOID:418] synonym: "Scleroderma, diffuse" EXACT [NCIT:C72070] synonym: "Scleroderma, systemic" EXACT [NCIT:C72070] synonym: "SSc" EXACT [doi:10.1183/09059180.00005512] synonym: "SSc, diffuse sclerosis" EXACT [NCIT:C72070] -synonym: "Systemic Scleroderma" EXACT [NORD:2007] -synonym: "systemic Scleroderma" EXACT [NCIT:C72070] -synonym: "systemic scleroderma" EXACT [NCIT:C72070, Orphanet:90291] -synonym: "systemic sclerosis" EXACT [DOID:418, ICD9CM:710.1, MONDO:0019564, NCIT:C72070] +synonym: "Systemic Scleroderma" EXACT [DOID:418, icd11.foundation:1084365812, NCIT:C72070, NORD:2007, Orphanet:90291] +synonym: "systemic Scleroderma" EXACT [DOID:418, icd11.foundation:1084365812, NCIT:C72070, Orphanet:90291] +synonym: "systemic scleroderma" EXACT [DOID:418, icd11.foundation:1084365812, NCIT:C72070, Orphanet:90291] +synonym: "systemic sclerosis" EXACT [DOID:418, icd11.foundation:1084365812, ICD9CM:710.1, MONDO:0019564, NCIT:C72070, Orphanet:90291] xref: DOID:418 {source="EFO:0000717", source="MONDO:equivalentTo"} xref: EFO:0000717 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9748 {source="MONDO:GARD"} @@ -97251,10 +97255,10 @@ name: ulcerative colitis def: "An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "colitis ulcerative" EXACT [NCIT:C2952] -synonym: "left-sided ulcerative colitis" NARROW [DOID:8577] -synonym: "ulcerative colitis" EXACT [MONDO:ambiguous, NCIT:C2952] +synonym: "left-sided ulcerative colitis" NARROW [] +synonym: "ulcerative colitis" EXACT [DOID:8577, icd11.foundation:784669405, MONDO:ambiguous, NCIT:C2952] synonym: "ulcerative colitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "ulcerative proctosigmoiditis" RELATED [Orphanet:771] +synonym: "ulcerative proctosigmoiditis" RELATED [] xref: DOID:8577 {source="EFO:0000729", source="MONDO:equivalentTo"} xref: EFO:0000729 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0100279 {source="MONDO:otherHierarchy"} @@ -97295,8 +97299,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "embryonal sarcoma" EXACT [NCIT:C27096] synonym: "embryonal sarcoma (undifferentiated sarcoma)" EXACT [NCIT:C27096] -synonym: "embryonal sarcoma, undifferentiated" EXACT [NCIT:C27096] -synonym: "sarcoma, undifferentiated, malignant" EXACT [NCIT:C27096] +synonym: "embryonal sarcoma, undifferentiated" EXACT [] +synonym: "sarcoma, undifferentiated, malignant" EXACT [] synonym: "UES" EXACT ABBREVIATION [NCIT:C27096] synonym: "undifferentiated (embryonal) sarcoma" EXACT [NCIT:C27096] synonym: "undifferentiated sarcoma" EXACT [NCIT:C27096] @@ -97323,12 +97327,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ALT" EXACT ABBREVIATION [Orphanet:99971] synonym: "atypical lipoma" EXACT [Orphanet:99971] -synonym: "atypical lipomatous tumor" BROAD [Orphanet:99971] +synonym: "atypical lipomatous tumor" BROAD [] synonym: "atypical lipomatous tumour" BROAD OMO:0003005 [] synonym: "WDLS" EXACT ABBREVIATION [Orphanet:99971] -synonym: "well differentiated liposarcoma" EXACT [NCIT:C4250] -synonym: "well differentiated liposarcoma of deep soft tissue" EXACT [NCIT:C4250] -synonym: "well-differentiated liposarcoma" EXACT [NCIT:C4250] +synonym: "well differentiated liposarcoma" EXACT [] +synonym: "well differentiated liposarcoma of deep soft tissue" EXACT [] +synonym: "well-differentiated liposarcoma" EXACT [Orphanet:99971] xref: EFO:0000736 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19721 {source="MONDO:GARD"} xref: ICD10CM:C49.9 {source="Orphanet:99971/ntbt", source="Orphanet:99971"} @@ -97345,10 +97349,10 @@ relationship: disease_has_location UBERON:0001013 {source="EFO:0000784"} ! adipo id: MONDO:0005104 name: aJCC grade 1 sarcoma def: "Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma)" [EFO:0000737] -synonym: "aJCC G1 sarcoma" RELATED [NCIT:C9419] -synonym: "aJCC grade 1 sarcoma" EXACT [NCIT:C9419] -synonym: "aJCC grade I sarcoma" RELATED [NCIT:C9419] -synonym: "well differentiated sarcoma" RELATED [NCIT:C9419] +synonym: "aJCC G1 sarcoma" RELATED [] +synonym: "aJCC grade 1 sarcoma" EXACT [] +synonym: "aJCC grade I sarcoma" RELATED [] +synonym: "well differentiated sarcoma" RELATED [] xref: MEDGEN:231330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9419 {source="MONDO:equivalentObsolete", source="EFO:0000737"} xref: UMLS:C1332066 {source="MEDGEN:231330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -97361,7 +97365,7 @@ name: melanoma def: "A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain." [NCIT:C3224] subset: otar {source="MONDO:OTAR"} synonym: "malignant melanoma" EXACT [DOID:1909, NCIT:C3224] -synonym: "melanoma" EXACT [MONDO:ambiguous, NCIT:C3224] +synonym: "melanoma" EXACT [DOID:1909, MONDO:ambiguous, NCIT:C3224] synonym: "melanoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "melanoma, malignant" EXACT [NCIT:C3224] synonym: "Naevocarcinoma" EXACT [DOID:1909] @@ -97392,19 +97396,19 @@ id: MONDO:0005106 name: lipoma def: "A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue." [NCIT:C3192] subset: otar {source="MONDO:OTAR"} -synonym: "benign lipomatous tumor" RELATED EXCLUDE [DOID:3315] +synonym: "benign lipomatous tumor" RELATED EXCLUDE [] synonym: "benign lipomatous tumour" RELATED OMO:0003005 [] -synonym: "benign tumor of adipose tissue" EXACT [DOID:3315, NCIT:C4502] +synonym: "benign tumor of adipose tissue" EXACT [DOID:3315] synonym: "benign tumour of adipose tissue" EXACT OMO:0003005 [] -synonym: "lipoma" EXACT [NCIT:C3192] +synonym: "lipoma" EXACT [DOID:3315, icd11.foundation:1090000716, NCIT:C3192] synonym: "lipoma, benign" EXACT [NCIT:C3192] -synonym: "lipomatosis, familial multiple" EXACT [DOID:3315] -synonym: "lipomatous neoplasm" RELATED [DOID:3315] -synonym: "lipomatous neoplasm (morphologic abnormality)" EXACT [DOID:3315] -synonym: "lipomatous tumor" RELATED [DOID:3315, NCIT:C4248] +synonym: "lipomatosis, familial multiple" EXACT [] +synonym: "lipomatous neoplasm" RELATED [] +synonym: "lipomatous neoplasm (morphologic abnormality)" EXACT [] +synonym: "lipomatous tumor" RELATED [] synonym: "lipomatous tumour" RELATED OMO:0003005 [] -synonym: "multiple lipomatosis" NARROW [DOID:3315] -synonym: "tumor of adipose tissue" RELATED EXCLUDE [DOID:3315] +synonym: "multiple lipomatosis" NARROW [] +synonym: "tumor of adipose tissue" RELATED EXCLUDE [] synonym: "tumour of adipose tissue" RELATED OMO:0003005 [] xref: DOID:3315 {source="MONDO:equivalentTo", source="EFO:0000759"} xref: EFO:0000759 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -97443,7 +97447,7 @@ id: MONDO:0005108 name: viral infectious disease def: "Any disease caused by a virus." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "infection, viral" EXACT [NCIT:C3439] +synonym: "infection, viral" EXACT [] synonym: "infections, Viruses" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "viral disease" EXACT [DOID:934, NCIT:C3439] synonym: "viral disorder" EXACT [NCIT:C3439] @@ -97492,11 +97496,11 @@ id: MONDO:0005109 name: HIV infectious disease def: "An infection caused by the human immunodeficiency virus." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "HIV infection" EXACT [DOID:526] +synonym: "HIV infection" EXACT [DOID:526, NCIT:C3108] synonym: "Human immunodeficiency virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Human immunodeficiency virus disease or disorder" EXACT [] -synonym: "Human immunodeficiency virus infectious disease" EXACT [] -synonym: "human immunodeficiency virus infectious disease" RELATED [DOID:526] +synonym: "Human immunodeficiency virus infectious disease" EXACT [DOID:526, NCIT:C3108] +synonym: "human immunodeficiency virus infectious disease" RELATED [] xref: DOID:526 {source="MONDO:equivalentTo", source="EFO:0000764"} xref: EFO:0000764 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B20 {source="DOID:526"} @@ -97543,10 +97547,10 @@ id: MONDO:0005111 name: Epstein-Barr virus infection def: "An infection that is caused by Epstein-Barr virus." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "EBV infection" EXACT [MESH:D020031, NCIT:C38759] +synonym: "EBV infection" EXACT [DOID:2938, MESH:D020031, NCIT:C38759] synonym: "EBV infections" RELATED [MESH:D020031] synonym: "Epstein Barr Virus infections" RELATED [MESH:D020031] -synonym: "Epstein-Barr Virus infection" EXACT [NCIT:C38759] +synonym: "Epstein-Barr Virus infection" EXACT [DOID:2938, NCIT:C38759] synonym: "Herpesvirus 4 infections, Human" RELATED [MESH:D020031] synonym: "Human gammaherpesvirus 4 caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Human gammaherpesvirus 4 disease or disorder" EXACT [] @@ -97576,7 +97580,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "malignant mesothelioma of pleura" EXACT [DOID:7474, NCIT:C7376] synonym: "malignant mesothelioma of the pleura" EXACT [NCIT:C7376] -synonym: "malignant pleural mesothelioma" EXACT [NCIT:C7376] +synonym: "malignant pleural mesothelioma" EXACT [DOID:7474, NCIT:C7376] synonym: "pleura mesothelioma" BROAD [MONDO:patterns/location] synonym: "pleural diffuse malignant mesothelioma" EXACT [NCIT:C7376] synonym: "pleural malignant mesothelioma" EXACT [NCIT:C7376] @@ -97608,8 +97612,8 @@ synonym: "Bacteria infectious disease" EXACT [] synonym: "bacterial disease" EXACT [NCIT:C2890] synonym: "bacterial disorder" EXACT [NCIT:C2890] synonym: "bacterial infection" EXACT [MESH:D001424, NCIT:C2890] -synonym: "bacterial infectious disease" EXACT [MONDO:0001026] -synonym: "infection, bacterial" EXACT [MESH:D001424, NCIT:C2890] +synonym: "bacterial infectious disease" EXACT [DOID:104, MONDO:0001026] +synonym: "infection, bacterial" EXACT [MESH:D001424] synonym: "infections, bacterial" RELATED [MESH:D001424] xref: DOID:104 {source="MONDO:equivalentTo"} xref: EFO:0000771 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -97678,7 +97682,7 @@ synonym: "epilepsy of temporal lobe" EXACT [MONDO:design_pattern] synonym: "epilepsy, familial temporal lobe" EXACT [OMIMPS:600512] synonym: "epilepsy, temporal lobe" EXACT [DOID:3328] synonym: "familial temporal lobe epilepsy syndrome" EXACT [MONDO:0100032] -synonym: "temporal lobe epilepsy" EXACT [MONDO:patterns/location] +synonym: "temporal lobe epilepsy" EXACT [DOID:3328, MONDO:patterns/location, NCIT:C177244] xref: DOID:3328 {source="MONDO:equivalentTo", source="EFO:0000773"} xref: EFO:0000773 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5135 {source="MONDO:GARD"} @@ -97713,15 +97717,15 @@ subset: ordo_disorder {source="Orphanet:3452"} subset: orphanet_rare {source="Orphanet:3452"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intestinal lipodystrophy" EXACT [DOID:8476, Orphanet:3452] -synonym: "intestinal lipophagic granulomatosis" EXACT [Orphanet:3452] -synonym: "secondary non-tropical sprue" EXACT [Orphanet:3452] +synonym: "intestinal lipodystrophy" EXACT [DOID:8476, icd11.foundation:1131038233, Orphanet:3452] +synonym: "intestinal lipophagic granulomatosis" EXACT [] +synonym: "secondary non-tropical sprue" EXACT [] synonym: "Tropheryma whippelii infection" RELATED [GARD:0007889] synonym: "Tropheryma whipplei caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Tropheryma whipplei disease or disorder" EXACT [] synonym: "Tropheryma whipplei infectious disease" EXACT [] -synonym: "Whipple disease" EXACT [MONDO:0018099] -synonym: "Whipple's disease" RELATED [DOID:8476, ICD9CM:040.2] +synonym: "Whipple disease" EXACT [DOID:8476, icd11.foundation:1131038233, MONDO:0018099, NCIT:C85228, Orphanet:3452] +synonym: "Whipple's disease" RELATED [ICD9CM:040.2] xref: DOID:8476 {source="MONDO:equivalentTo", source="EFO:0000775"} xref: EFO:0000775 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7889 {source="MONDO:GARD"} @@ -97765,12 +97769,12 @@ comment: Human granulocytic ehrlichiosis (HGE) is also called human granulocytic subset: gard_rare {source="GARD:71", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HGE" BROAD ABBREVIATION [DOID:0050025, GARD:0000071] +synonym: "HGE" BROAD ABBREVIATION [GARD:0000071] synonym: "human anaplasmosis caused by Anaplasma phagocytophilum" RELATED [] synonym: "human anaplasmosis due to Anaplasma phagocytophilum" EXACT [] synonym: "human ehrlichial infection, human granulocytic type" RELATED [GARD:0000071] synonym: "human granulocytic anaplasmosis" EXACT [DOID:0050025] -synonym: "human granulocytic ehrlichiosis" EXACT [] +synonym: "human granulocytic ehrlichiosis" EXACT [DOID:0050025] synonym: "infection by Anaplasma phagocytophilum" RELATED [] xref: DOID:0050025 {source="MONDO:equivalentTo", source="EFO:0000777"} xref: EFO:0000777 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -97793,7 +97797,7 @@ def: "An infection caused by Bacillus anthracis bacteria. It may affect the lung comment: Editor note: DOID says skin disease but we suppress this as it would be identical to subclass skin anthrax subset: otar {source="MONDO:OTAR"} synonym: "anthrax" EXACT [NCIT:C84565] -synonym: "anthrax disease" RELATED [DOID:7427] +synonym: "anthrax disease" RELATED [] synonym: "Bacillus anthracis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacillus anthracis disease or disorder" EXACT [] synonym: "Bacillus anthracis infectious disease" EXACT [] @@ -97883,7 +97887,7 @@ subset: ordo_disorder {source="Orphanet:548"} subset: orphanet_rare {source="Orphanet:548"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Hansen disease" EXACT [NCIT:C84824] +synonym: "Hansen disease" EXACT [icd11.foundation:149072669, NCIT:C84824] synonym: "Hansen's disease" EXACT [NCIT:C84824] synonym: "Mycobacterium leprae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mycobacterium leprae disease or disorder" EXACT [] @@ -97930,7 +97934,7 @@ def: "A form of leprosy in which there are clinical manifestations of both princ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "borderline leprosy [group B]" EXACT [DOID:1023, ICD9CM:030.3] +synonym: "borderline leprosy [group B]" EXACT [ICD9CM:030.3] synonym: "borderline or dimorphous leprosy" EXACT [DOID:1023] synonym: "Midborderline leprosy" EXACT [DOID:1023] xref: DOID:1023 {source="EFO:0001055", source="MONDO:equivalentTo"} @@ -97954,7 +97958,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "smooth leprosy" EXACT [DOID:1025] -synonym: "tuberculoid leprosy [type T]" EXACT [DOID:1025, ICD9CM:030.1] +synonym: "tuberculoid leprosy [type T]" EXACT [ICD9CM:030.1] synonym: "type T leprosy" EXACT [DOID:1025] xref: DOID:1025 {source="EFO:0001056", source="MONDO:equivalentTo"} xref: EFO:0001056 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -97974,7 +97978,7 @@ def: "A chronic communicable infection which is a principal or polar form of lep subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lepromatous leprosy [type L]" EXACT [DOID:10887, ICD9CM:030.0] +synonym: "lepromatous leprosy [type L]" EXACT [ICD9CM:030.0] synonym: "type L leprosy" EXACT [DOID:10887] xref: DOID:10887 {source="EFO:0001057", source="MONDO:equivalentTo"} xref: EFO:0001057 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -97996,7 +98000,7 @@ def: "OBSOLETE. A disease involving the sensory system." [https://orcid.org/0000 synonym: "disease of sensory system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of sensory system" EXACT [] synonym: "disorder of sensory system" EXACT [MONDO:patterns/location_top] -synonym: "sensory disease" EXACT [DOID:0050155] +synonym: "sensory disease" EXACT [] synonym: "sensory system disease" EXACT [MONDO:patterns/location] synonym: "sensory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:0050155 {source="EFO:0001058", source="MONDO:obsoleteEquivalent"} @@ -98008,9 +98012,9 @@ id: MONDO:0005129 name: cataract def: "Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)" [NCIT:C26713] subset: otar {source="MONDO:OTAR"} -synonym: "cataract" EXACT [MONDO:ambiguous] +synonym: "cataract" EXACT [DOID:83, icd11.foundation:109841337, MONDO:ambiguous, NCIT:C26713, OMIMPS:116200] synonym: "cataract (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "opacity of the lens" EXACT [NCIT:C26713] +synonym: "opacity of the lens" EXACT [] xref: DOID:83 {source="MONDO:equivalentTo", source="EFO:0001059"} xref: HP:0000518 {source="MONDO:otherHierarchy"} xref: ICD10CM:H26 {source="DOID:83"} @@ -98038,12 +98042,12 @@ id: MONDO:0005130 name: celiac disease def: "An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet." [NCIT:C26714] subset: otar {source="MONDO:OTAR"} -synonym: "celiac disease" EXACT [DOID:10608, Orphanet:555] -synonym: "celiac sprue" EXACT [DOID:10608, Orphanet:555] +synonym: "celiac disease" EXACT [DOID:10608, ICD10CM:K90.0, NCIT:C26714, OMIMPS:212750] +synonym: "celiac sprue" EXACT [DOID:10608, NCIT:C26714] synonym: "coeliac sprue" EXACT OMO:0003005 [] -synonym: "gluten intolerance" EXACT [Orphanet:555] -synonym: "gluten-induced enteropathy" EXACT [NCIT:C26714, Orphanet:555] -synonym: "idiopathic steatorrhea" EXACT [DOID:10608, Orphanet:555] +synonym: "gluten intolerance" EXACT [] +synonym: "gluten-induced enteropathy" EXACT [NCIT:C26714] +synonym: "idiopathic steatorrhea" EXACT [DOID:10608] synonym: "non tropical sprue" EXACT [NCIT:C26714] xref: DOID:10608 {source="MONDO:equivalentTo", source="EFO:0001060"} xref: EFO:0001060 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -98072,24 +98076,24 @@ id: MONDO:0005131 name: cervical carcinoma def: "A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma." [NCIT:C9039] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of cervix" BROAD [DOID:2893, NCIT:C9039] -synonym: "cancer of the cervix" BROAD [NCIT:C9039] -synonym: "cancer of the uterine cervix" BROAD [NCIT:C9039] -synonym: "cancer of uterine cervix" BROAD [NCIT:C9039] +synonym: "cancer of cervix" BROAD [] +synonym: "cancer of the cervix" BROAD [] +synonym: "cancer of the uterine cervix" BROAD [] +synonym: "cancer of uterine cervix" BROAD [] synonym: "carcinoma cervix uteri" EXACT [DOID:2893] synonym: "carcinoma of cervix" EXACT [DOID:2893, MTH:166, NCIT:C9039] -synonym: "carcinoma of cervix uteri" EXACT [NCIT:C9039] +synonym: "carcinoma of cervix uteri" EXACT [icd11.foundation:1743710977, NCIT:C9039] synonym: "carcinoma of the cervix" EXACT [NCIT:C9039] synonym: "carcinoma of the cervix uteri" EXACT [DOID:2893, NCIT:C9039] synonym: "carcinoma of the uterine cervix" EXACT [NCIT:C9039] synonym: "carcinoma of uterine cervix" EXACT [MONDO:patterns/carcinoma, NCIT:C9039] -synonym: "cervical cancer" BROAD [NCIT:C9039] -synonym: "cervical cancer, NOS" BROAD [NCIT:C9039] -synonym: "cervical carcinoma" EXACT [NCIT:C9039] -synonym: "cervix cancer" BROAD [NCIT:C9039] -synonym: "cervix carcinoma" EXACT [MONDO:0002456, NCIT:C9039] +synonym: "cervical cancer" BROAD [] +synonym: "cervical cancer, NOS" BROAD [] +synonym: "cervical carcinoma" EXACT [icd11.foundation:1743710977, NCIT:C9039] +synonym: "cervix cancer" BROAD [] +synonym: "cervix carcinoma" EXACT [DOID:2893, MONDO:0002456, NCIT:C9039] synonym: "cervix uteri carcinoma" EXACT [NCIT:C9039] -synonym: "uterine cervix cancer" BROAD [NCIT:C9039] +synonym: "uterine cervix cancer" BROAD [] synonym: "uterine cervix carcinoma" EXACT [MONDO:patterns/location, NCIT:C9039] xref: DOID:2893 {source="MONDO:equivalentTo", source="EFO:0001061"} xref: EFO:0001061 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -98136,7 +98140,7 @@ id: MONDO:0005133 name: endometriosis def: "The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs." [NCIT:C3014] subset: otar {source="MONDO:OTAR"} -synonym: "endometriosis" EXACT [MONDO:ambiguous, NCIT:C3014] +synonym: "endometriosis" EXACT [DOID:289, ICD10CM:N80, icd11.foundation:1838213761, MONDO:ambiguous, NCIT:C3014] synonym: "endometriosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:289 {source="EFO:0001065", source="MONDO:equivalentTo"} xref: EFO:0001065 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -98187,10 +98191,10 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease caused by parasite" EXACT [] synonym: "disease, parasitic" RELATED [MESH:D010272] synonym: "diseases, parasitic" RELATED [MESH:D010272] -synonym: "ectoparasitic disease" NARROW [DOID:1398] +synonym: "ectoparasitic disease" NARROW [] synonym: "infestation" RELATED [] synonym: "parasite infestation" RELATED [] -synonym: "parasitemia" NARROW [DOID:1398] +synonym: "parasitemia" NARROW [] synonym: "parasitic disease" EXACT [MESH:D010272, NCIT:C27864] synonym: "parasitic infection" EXACT [NCIT:C27864] synonym: "parasitic infectious disease" EXACT [DOID:1398] @@ -98234,7 +98238,7 @@ subset: ordo_disorder {source="Orphanet:673"} subset: orphanet_rare {source="Orphanet:673"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "induced malaria" NARROW EXCLUDE [DOID:12365] +synonym: "induced malaria" NARROW EXCLUDE [] synonym: "plasmodiosis" RELATED [] xref: DOID:12365 {source="EFO:0001068", source="MONDO:equivalentTo"} xref: EFO:0001068 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -98285,7 +98289,7 @@ def: "Any condition related to a disturbance between proper intake and utilizati subset: harrisons_view subset: otar {source="MONDO:OTAR"} subset: rare_grouping -synonym: "nutrition disease" RELATED [DOID:374] +synonym: "nutrition disease" RELATED [] synonym: "nutritional disorder" EXACT [DOID:374, NCIT:C26836] xref: DOID:374 {source="EFO:0001069", source="MONDO:equivalentTo"} xref: EFO:0001069 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -98308,13 +98312,13 @@ id: MONDO:0005138 name: lung carcinoma def: "A carcinoma that arises from epithelial cells of the lung" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of lung" BROAD [DOID:3905, NCIT:C4878] -synonym: "cancer of the lung" BROAD [NCIT:C4878] -synonym: "carcinoma of lung" EXACT [DOID:3905, MONDO:patterns/carcinoma, NCIT:C4878] +synonym: "cancer of lung" BROAD [] +synonym: "cancer of the lung" BROAD [] +synonym: "carcinoma of lung" EXACT [icd11.foundation:947165291, MONDO:patterns/carcinoma, NCIT:C4878] synonym: "carcinoma of the lung" EXACT [NCIT:C4878] -synonym: "lung cancer" BROAD [NCIT:C4878] -synonym: "lung cancer, NOS" BROAD [NCIT:C4878] -synonym: "lung carcinoma" EXACT [MONDO:patterns/location, NCIT:C4878] +synonym: "lung cancer" BROAD [] +synonym: "lung cancer, NOS" BROAD [] +synonym: "lung carcinoma" EXACT [DOID:3905, icd11.foundation:947165291, MONDO:patterns/location, NCIT:C4878] xref: DOID:3905 {source="MONDO:equivalentTo", source="EFO:0001071"} xref: EFO:0001071 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C34.90 {source="DOID:3905"} @@ -98366,9 +98370,9 @@ subset: rare synonym: "carcinoma of ovary" EXACT [MONDO:patterns/carcinoma, NCIT:C4908] synonym: "carcinoma of the ovary" EXACT [NCIT:C4908] synonym: "epithelial ovarian cancer" EXACT [NCIT:C4908] -synonym: "ovarian cancer" BROAD [NCIT:C4908] +synonym: "ovarian cancer" BROAD [] synonym: "ovarian carcinoma" EXACT [DOID:4001, NCIT:C4908] -synonym: "ovarian epithelial cancer" BROAD [NCIT:C4908] +synonym: "ovarian epithelial cancer" BROAD [] synonym: "ovary carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4001 {source="EFO:0001075", source="MONDO:equivalentTo"} xref: EFO:0001075 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -98460,9 +98464,9 @@ id: MONDO:0005146 name: post-traumatic stress disorder def: "An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "combat neurosis" NARROW [NCIT:C3389] -synonym: "post-traumatic stress disorder" EXACT [DOID:2055] -synonym: "PTSD" EXACT ABBREVIATION [NCIT:C3389] +synonym: "combat neurosis" NARROW [] +synonym: "post-traumatic stress disorder" EXACT [DOID:2055, NCIT:C3389] +synonym: "PTSD" EXACT ABBREVIATION [DOID:2055, NCIT:C3389] synonym: "traumatic neurosis" EXACT [DOID:2055] xref: DOID:2055 {source="MONDO:equivalentTo", source="EFO:0001358"} xref: EFO:0001358 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -98487,16 +98491,16 @@ def: "A chronic condition characterized by minimal or absent production of insul subset: otar {source="MONDO:OTAR"} synonym: "diabetes mellitis type 1" EXACT [] synonym: "diabetes mellitis type I" EXACT [] -synonym: "IDDM" EXACT DEPRECATED [DOID:9744] +synonym: "IDDM" EXACT DEPRECATED [DOID:9744, NCIT:C2986] synonym: "immune mediated diabetes" EXACT [NCIT:C2986] synonym: "insulin dependent diabetes" EXACT DEPRECATED [NCIT:C2986] -synonym: "insulin-dependent diabetes mellitus" EXACT DEPRECATED [DOID:9744, Orphanet:243377] +synonym: "insulin-dependent diabetes mellitus" EXACT DEPRECATED [DOID:9744] synonym: "juvenile diabetes" EXACT DEPRECATED [NCIT:C2986] -synonym: "T1D" EXACT ABBREVIATION [https://orcid.org/0000-0002-4071-8397] +synonym: "T1D" EXACT ABBREVIATION [https://orcid.org/0000-0002-4071-8397, OMIM:222100] synonym: "T1DM" EXACT ABBREVIATION [https://orcid.org/0000-0002-4071-8397] -synonym: "type 1 diabetes" EXACT [NCIT:C2986] +synonym: "type 1 diabetes" EXACT [icd11.foundation:1651053999, NCIT:C2986] synonym: "type I diabetes" EXACT [NCIT:C2986] -synonym: "type I diabetes mellitus" EXACT [DOID:9744] +synonym: "type I diabetes mellitus" EXACT [DOID:9744, NCIT:C2986] xref: DOID:9744 {source="MONDO:equivalentTo", source="EFO:0001359"} xref: ICD10CM:E10 {source="DOID:9744"} xref: icd11.foundation:1651053999 {source="MONDO:equivalentTo"} @@ -98527,41 +98531,41 @@ id: MONDO:0005148 name: type 2 diabetes mellitus def: "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "adult onset diabetes" EXACT DEPRECATED [NCIT:C26747] +synonym: "adult onset diabetes" EXACT DEPRECATED [icd11.foundation:119724091, NCIT:C26747] synonym: "adult-onset diabetes" EXACT DEPRECATED [NCIT:C26747] synonym: "diabetes mellitis type 2" EXACT [] synonym: "diabetes mellitis type II" EXACT [] -synonym: "diabetes mellitus, non-insulin-dependent, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] +synonym: "diabetes mellitus, non-insulin-dependent, susceptibility to" RELATED [] synonym: "diabetes mellitus, noninsulin-dependent" EXACT [MONDO:Lexical, OMIM:125853] -synonym: "diabetes mellitus, noninsulin-dependent, 2" NARROW [OMIM:125853, OMIM:genemap2] -synonym: "diabetes mellitus, noninsulin-dependent, association with" EXACT [OMIM:125853, OMIM:genemap2] -synonym: "diabetes mellitus, noninsulin-dependent, late onset" EXACT [OMIM:125853, OMIM:genemap2] -synonym: "diabetes mellitus, noninsulin-dependent, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] +synonym: "diabetes mellitus, noninsulin-dependent, 2" NARROW [] +synonym: "diabetes mellitus, noninsulin-dependent, association with" EXACT [] +synonym: "diabetes mellitus, noninsulin-dependent, late onset" EXACT [] +synonym: "diabetes mellitus, noninsulin-dependent, susceptibility to" RELATED [] synonym: "diabetes mellitus, type 2" EXACT [OMIM:125853] -synonym: "diabetes mellitus, type 2, protection against" RELATED [OMIM:125853] -synonym: "diabetes mellitus, type 2, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] -synonym: "diabetes mellitus, type II" EXACT [OMIM:125853, OMIM:genemap2] -synonym: "diabetes mellitus, type II, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] +synonym: "diabetes mellitus, type 2, protection against" RELATED [] +synonym: "diabetes mellitus, type 2, susceptibility to" RELATED [] +synonym: "diabetes mellitus, type II" EXACT [] +synonym: "diabetes mellitus, type II, susceptibility to" RELATED [] synonym: "diabetes, type 2" EXACT [NCIT:C26747] -synonym: "hypertension, insulin resistance-related, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] -synonym: "insulin resistance, severe, digenic" EXACT [OMIM:125853, OMIM:genemap2] -synonym: "insulin resistance, susceptibility to" RELATED [OMIM:125853] -synonym: "maturity-onset diabetes" RELATED [OMIM:125853] -synonym: "NIDDM" EXACT DEPRECATED [DOID:9352, MONDO:Lexical, NCIT:C26747, OMIM:125853] +synonym: "hypertension, insulin resistance-related, susceptibility to" RELATED [] +synonym: "insulin resistance, severe, digenic" EXACT [] +synonym: "insulin resistance, susceptibility to" RELATED [] +synonym: "maturity-onset diabetes" RELATED [] +synonym: "NIDDM" EXACT DEPRECATED [DOID:9352, MONDO:Lexical, NCIT:C26747] synonym: "non-insulin dependent diabetes" EXACT DEPRECATED [NCIT:C26747] -synonym: "non-insulin dependent diabetes mellitus" EXACT DEPRECATED [NCIT:C26747] +synonym: "non-insulin dependent diabetes mellitus" EXACT DEPRECATED [icd11.foundation:119724091, NCIT:C26747] synonym: "non-insulin-dependent diabetes mellitus" EXACT DEPRECATED [DOID:9352] -synonym: "noninsulin dependent diabetes" EXACT DEPRECATED [NCIT:C26747] +synonym: "noninsulin dependent diabetes" EXACT DEPRECATED [icd11.foundation:119724091, NCIT:C26747] synonym: "noninsulin-dependent diabetes mellitus" EXACT [OMIM:125853] -synonym: "T2D" EXACT ABBREVIATION [https://orcid.org/0000-0002-4071-8397] +synonym: "T2D" EXACT ABBREVIATION [https://orcid.org/0000-0002-4071-8397, OMIM:125853] synonym: "T2DM" EXACT ABBREVIATION [https://orcid.org/0000-0002-4071-8397] synonym: "T2DM - type 2 diabetes mellitus" EXACT [NCIT:C26747] -synonym: "type 2 diabetes" EXACT [NCIT:C26747] -synonym: "type 2 diabetes mellitus" EXACT [NCIT:C26747] +synonym: "type 2 diabetes" EXACT [DOID:9352, icd11.foundation:119724091, NCIT:C26747] +synonym: "type 2 diabetes mellitus" EXACT [DOID:9352, icd11.foundation:119724091, NCIT:C26747, OMIM:125853] synonym: "type 2 diabetes mellitus non-insulin dependent" EXACT [NCIT:C26747] -synonym: "type 2 diabetes mellitus, susceptibility to" RELATED [OMIM:125853, OMIM:genemap2] -synonym: "type II diabetes" EXACT [NCIT:C26747] -synonym: "type II diabetes mellitus" EXACT [DOID:9352, NCIT:C26747] +synonym: "type 2 diabetes mellitus, susceptibility to" RELATED [] +synonym: "type II diabetes" EXACT [icd11.foundation:119724091, NCIT:C26747] +synonym: "type II diabetes mellitus" EXACT [DOID:9352, icd11.foundation:119724091, NCIT:C26747] xref: DOID:9352 {source="MONDO:equivalentTo", source="EFO:0001360"} xref: ICD10CM:E11 {source="DOID:9352"} xref: icd11.foundation:119724091 {source="MONDO:equivalentTo"} @@ -98610,15 +98614,15 @@ def: "Age-related loss of vision in the central portion of the retina (macula), subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "age related macular degeneration" RELATED [DOID:10871] +synonym: "age related macular degeneration" RELATED [] synonym: "age related Maculopathies" EXACT [DOID:10871] synonym: "age related maculopathy" EXACT [DOID:10871] -synonym: "age-related macular degeneration" EXACT [DOID:10871] -synonym: "AMD" EXACT ABBREVIATION [NCIT:C84391] -synonym: "ARMD" EXACT ABBREVIATION [NCIT:C84391] +synonym: "age-related macular degeneration" EXACT [DOID:10871, icd11.foundation:1514301548, NCIT:C84391] +synonym: "AMD" EXACT ABBREVIATION [] +synonym: "ARMD" EXACT ABBREVIATION [] synonym: "macular degeneration, age-related" EXACT [OMIMPS:603075] synonym: "Senile macular degeneration" EXACT [DOID:10871] -synonym: "Senile macular retinal degeneration" EXACT [DOID:10871] +synonym: "Senile macular retinal degeneration" EXACT [DOID:10871, icd11.foundation:1514301548] xref: DOID:10871 {source="EFO:0001365", source="MONDO:equivalentTo"} xref: EFO:0001365 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H35.30 {source="DOID:10871"} @@ -98653,9 +98657,9 @@ subset: rare_grouping synonym: "disease of endocrine system" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of endocrine system" EXACT [] synonym: "disorder of endocrine system" EXACT [MONDO:patterns/location_top, NCIT:C3009] -synonym: "endocrine disease" EXACT [DOID:28, NCIT:C3009] +synonym: "endocrine disease" EXACT [NCIT:C3009] synonym: "endocrine disorder" EXACT [NCIT:C3009] -synonym: "endocrine system disease" EXACT [MONDO:patterns/location] +synonym: "endocrine system disease" EXACT [DOID:28, MONDO:patterns/location] synonym: "endocrine system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "endocrine system disorder" EXACT [NCIT:C3009] synonym: "endocrinopathy" EXACT [NCIT:C3009] @@ -98699,7 +98703,7 @@ def: "A condition of diminution or cessation of secretion of one or more hormone subset: otar {source="MONDO:OTAR"} synonym: "pituitary hormone deficiency" EXACT [DOID:9406] synonym: "pituitary hypofunction" RELATED [DOID:9406] -synonym: "pituitary insufficiency" EXACT [DOID:9406] +synonym: "pituitary insufficiency" EXACT [DOID:9406, NCIT:C62591] xref: DOID:9406 {source="MONDO:equivalentTo", source="EFO:0001380"} xref: EFO:0001380 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E23.0 {source="DOID:9406", source="MONDO:equivalentTo"} @@ -98729,17 +98733,17 @@ subset: ordo_disorder {source="Orphanet:213772"} subset: orphanet_rare {source="Orphanet:213772"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenocarcinoma - cervix" EXACT [NCIT:C4029] +synonym: "adenocarcinoma - cervix" EXACT [] synonym: "adenocarcinoma cervix uteri" EXACT [DOID:3702] -synonym: "adenocarcinoma of cervix" EXACT [NCIT:C4029] -synonym: "adenocarcinoma of cervix uteri" EXACT [NCIT:C4029] +synonym: "adenocarcinoma of cervix" EXACT [DOID:3702, NCIT:C4029] +synonym: "adenocarcinoma of cervix uteri" EXACT [icd11.foundation:261293318, NCIT:C4029] synonym: "adenocarcinoma of the cervix" EXACT [NCIT:C4029] -synonym: "adenocarcinoma of the cervix uteri" EXACT [NCIT:C4029] +synonym: "adenocarcinoma of the cervix uteri" EXACT [NCIT:C4029, Orphanet:213772] synonym: "adenocarcinoma of the uterine cervix" EXACT [DOID:3702, NCIT:C4029] synonym: "adenocarcinoma of uterine cervix" EXACT [NCIT:C4029] -synonym: "cervical adenocarcinoma" EXACT [NCIT:C4029, Orphanet:213772] -synonym: "cervical adenocarcinoma, NOS" RELATED EXCLUDE [NCIT:C4029] -synonym: "cervical adenocarcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C4029] +synonym: "cervical adenocarcinoma" EXACT [DOID:3702, NCIT:C4029, Orphanet:213772] +synonym: "cervical adenocarcinoma, NOS" RELATED EXCLUDE [] +synonym: "cervical adenocarcinoma, not otherwise specified" RELATED EXCLUDE [] synonym: "cervix adenocarcinoma" EXACT [NCIT:C4029] synonym: "cervix uteri adenocarcinoma" EXACT [NCIT:C4029] synonym: "uterine cervix adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4029] @@ -98773,11 +98777,11 @@ def: "A disease involving the liver." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} synonym: "disease of liver" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of liver" EXACT [] -synonym: "disorder of liver" EXACT [MONDO:patterns/location_top] -synonym: "hepatic disease" EXACT [DOID:409] +synonym: "disorder of liver" EXACT [DOID:409, MONDO:patterns/location_top] +synonym: "hepatic disease" EXACT [] synonym: "hepatic disorder" EXACT [DOID:409, NCIT:C3196] synonym: "liver and intrahepatic bile duct disorder" EXACT [NCIT:C3196] -synonym: "liver disease" EXACT [MONDO:patterns/location] +synonym: "liver disease" EXACT [DOID:409, MONDO:patterns/location, NCIT:C3196] synonym: "liver disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "liver disorder" EXACT [NCIT:C3196] xref: DOID:409 {source="EFO:0001421", source="MONDO:equivalentTo"} @@ -98810,9 +98814,9 @@ id: MONDO:0005155 name: cirrhosis of liver def: "A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "cirrhosis" EXACT [DOID:5082] +synonym: "cirrhosis" EXACT [DOID:5082, NCIT:C2951] synonym: "cirrhosis of liver" EXACT [DOID:5082] -synonym: "liver cirrhosis" RELATED [DOID:5082] +synonym: "liver cirrhosis" RELATED [] xref: DOID:5082 {source="MONDO:equivalentTo", source="EFO:0001422"} xref: EFO:0001422 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K74.60 {source="DOID:5082"} @@ -98837,7 +98841,7 @@ def: "Inflammation of the brain and the spinal cord." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "central nervous system inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "encephalitis &/or myelitis" EXACT [DOID:640] -synonym: "encephalitis and/or myelitis" EXACT [DOID:640] +synonym: "encephalitis and/or myelitis" EXACT [] synonym: "inflammation of central nervous system" EXACT [] xref: DOID:640 {source="EFO:0001423", source="MONDO:equivalentTo"} xref: EFO:0001423 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -98870,16 +98874,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lymphocytic and plasma cell neoplasm" EXACT [NCIT:C7065] synonym: "lymphocytic and plasma cell tumor" EXACT [NCIT:C7065] -synonym: "lymphocytic and plasma cell tumour" EXACT OMO:0003005 [] +synonym: "lymphocytic and plasma cell tumour" EXACT OMO:0003005 [NCIT:C7065] synonym: "lymphocytic and plasmacytic neoplasm" EXACT [NCIT:C7065] synonym: "lymphocytic neoplasm" EXACT [NCIT:C7065] synonym: "lymphocytic tumor" EXACT [NCIT:C7065] synonym: "lymphocytic tumour" EXACT OMO:0003005 [] synonym: "lymphoid and plasma cell tumor" EXACT [NCIT:C7065] -synonym: "lymphoid and plasma cell tumour" EXACT OMO:0003005 [] +synonym: "lymphoid and plasma cell tumour" EXACT OMO:0003005 [NCIT:C7065] synonym: "lymphoid and plasmacytic neoplasm" EXACT [NCIT:C7065] synonym: "lymphoid and plasmacytic tumor" EXACT [NCIT:C7065] -synonym: "lymphoid and plasmacytic tumour" EXACT OMO:0003005 [] +synonym: "lymphoid and plasmacytic tumour" EXACT OMO:0003005 [NCIT:C7065] synonym: "lymphoid neoplasm" EXACT [NCIT:C7065] synonym: "lymphoid tumor" EXACT [NCIT:C7065] synonym: "lymphoid tumour" EXACT OMO:0003005 [] @@ -98905,14 +98909,14 @@ id: MONDO:0005159 name: prostate carcinoma def: "A carcinoma that arises from epithelial cells of the prostate gland." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of prostate" NARROW [NCIT:C4863] -synonym: "cancer of the prostate" NARROW [NCIT:C4863] -synonym: "carcinoma of prostate" EXACT [NCIT:C4863] +synonym: "cancer of prostate" NARROW [] +synonym: "cancer of the prostate" NARROW [] +synonym: "carcinoma of prostate" EXACT [DOID:10286, NCIT:C4863] synonym: "carcinoma of prostate gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the prostate" EXACT [NCIT:C4863] -synonym: "prostate cancer" NARROW [NCIT:C4863] -synonym: "prostate cancer, NOS" NARROW [NCIT:C4863] -synonym: "prostate carcinoma" EXACT [NCIT:C4863] +synonym: "prostate cancer" NARROW [] +synonym: "prostate cancer, NOS" NARROW [] +synonym: "prostate carcinoma" EXACT [DOID:10286, NCIT:C4863] synonym: "prostate gland carcinoma" EXACT [MONDO:patterns/location] xref: DOID:10286 {source="EFO:0001663", source="MONDO:equivalentTo"} xref: EFO:0001663 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -98933,19 +98937,19 @@ id: MONDO:0005160 name: aortic aneurysm def: "A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "abdominal aortic aneurysm, ruptured" EXACT [DOID:3627, ICD9CM:441.3] -synonym: "aortic aneurysm" EXACT [MONDO:ambiguous] +synonym: "abdominal aortic aneurysm, ruptured" EXACT [ICD9CM:441.3] +synonym: "aortic aneurysm" EXACT [DOID:3627, MONDO:ambiguous] synonym: "aortic aneurysm (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "aortic aneurysm of unspecified site, ruptured" EXACT [DOID:3627, ICD9CM:441.5] -synonym: "ruptured abdominal aortic aneurysm" EXACT [DOID:3627, NCIT:C27046] -synonym: "ruptured aortic aneurysm" EXACT [DOID:3627, NCIT:C27198] -synonym: "ruptured aortic aneurysm NOS" RELATED EXCLUDE [DOID:3627] -synonym: "ruptured thoracic aneurysm" EXACT [DOID:3627, NCIT:C27299] -synonym: "ruptured thoracic aortic aneurysm" EXACT [DOID:3627] -synonym: "ruptured thoracoabdominal aortic aneurysm" EXACT [DOID:3627] -synonym: "thoracic aortic aneurysm which HAS ruptured" EXACT [DOID:3627] -synonym: "thoracic aortic aneurysm, ruptured" EXACT [DOID:3627, ICD9CM:441.1] -synonym: "thoracoabdominal aortic aneurysm, ruptured" EXACT [DOID:3627] +synonym: "aortic aneurysm of unspecified site, ruptured" EXACT [ICD9CM:441.5] +synonym: "ruptured abdominal aortic aneurysm" EXACT [] +synonym: "ruptured aortic aneurysm" EXACT [DOID:3627] +synonym: "ruptured aortic aneurysm NOS" RELATED EXCLUDE [] +synonym: "ruptured thoracic aneurysm" EXACT [] +synonym: "ruptured thoracic aortic aneurysm" EXACT [] +synonym: "ruptured thoracoabdominal aortic aneurysm" EXACT [] +synonym: "thoracic aortic aneurysm which HAS ruptured" EXACT [] +synonym: "thoracic aortic aneurysm, ruptured" EXACT [ICD9CM:441.1] +synonym: "thoracoabdominal aortic aneurysm, ruptured" EXACT [] xref: DOID:3627 {source="MONDO:equivalentTo", source="EFO:0001666"} xref: EFO:0001666 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0004942 {source="MONDO:otherHierarchy"} @@ -98993,7 +98997,7 @@ synonym: "Human papilloma Virus infection" EXACT [NCIT:C27851] synonym: "Human papillomavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Human papillomavirus disease or disorder" EXACT [] synonym: "Human Papillomavirus infection" EXACT [NCIT:C27851] -synonym: "Human papillomavirus infectious disease" EXACT [] +synonym: "Human papillomavirus infectious disease" EXACT [DOID:11166] xref: DOID:11166 {source="MONDO:equivalentTo"} xref: EFO:0001668 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:079.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -99034,12 +99038,12 @@ subset: ordo_disorder {source="Orphanet:2030"} subset: orphanet_rare {source="Orphanet:2030"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fibrocytic tumor" BROAD [DOID:3355, NCIT:C7075] +synonym: "fibrocytic tumor" BROAD [] synonym: "fibrocytic tumour" BROAD OMO:0003005 [] -synonym: "fibrosarcoma" EXACT [MONDO:ambiguous, NCIT:C3043] +synonym: "fibrosarcoma" EXACT [DOID:3355, MONDO:ambiguous, NCIT:C3043, Orphanet:2030] synonym: "fibrosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "fibrosarcoma (excluding infantile fibrosarcoma)" EXACT [NCIT:C3043] -synonym: "fibrosarcoma - not infantile" EXACT [NCIT:C3043] +synonym: "fibrosarcoma (excluding infantile fibrosarcoma)" EXACT [] +synonym: "fibrosarcoma - not infantile" EXACT [] synonym: "fibrosarcoma of soft tissue" EXACT [DOID:3355] synonym: "fibrosarcoma, malignant" EXACT [NCIT:C3043] synonym: "fibrous tissue neoplasm" EXACT [DOID:3355] @@ -99076,16 +99080,16 @@ name: benign neoplasm def: "A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites." [NCIT:C3677] comment: Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14 subset: otar {source="MONDO:OTAR"} -synonym: "benign neoplasm" EXACT [NCIT:C3677] +synonym: "benign neoplasm" EXACT [DOID:0060072, NCIT:C3677] synonym: "benign neoplasm (disease)" EXACT [] -synonym: "benign tumor" RELATED [NCIT:C3677] +synonym: "benign tumor" RELATED [] synonym: "benign tumour" RELATED OMO:0003005 [] -synonym: "benign unclassifiable tumor" RELATED [NCIT:C3677] +synonym: "benign unclassifiable tumor" RELATED [] synonym: "benign unclassifiable tumour" RELATED OMO:0003005 [] -synonym: "cell type benign neoplasm" RELATED [DOID:0060084] +synonym: "cell type benign neoplasm" RELATED [] synonym: "neoplasm (disease), benign" EXACT [MONDO:patterns/benign] -synonym: "neoplasm, benign" RELATED [NCIT:C3677] -synonym: "organ system benign neoplasm" RELATED [DOID:0060085] +synonym: "neoplasm, benign" RELATED [] +synonym: "organ system benign neoplasm" RELATED [] xref: DOID:0060072 {source="EFO:0002422", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0060084 {source="MONDO:equivalentTo"} xref: DOID:0060085 {source="MONDO:equivalentTo"} @@ -99134,7 +99138,7 @@ id: MONDO:0005167 name: fibroma def: "A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts." [NCIT:C3041] subset: otar {source="MONDO:OTAR"} -synonym: "fibroma" EXACT [NCIT:C3041] +synonym: "fibroma" EXACT [DOID:0050871, NCIT:C3041] synonym: "fibroma, benign" EXACT [NCIT:C3041] xref: DOID:0050871 {source="EFO:0002424", source="MONDO:equivalentTo"} xref: EFO:0002424 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -99185,11 +99189,11 @@ def: "Proliferation of myeloid cells originating from a primitive stem cell." [N subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "myeloid malignancy" EXACT [NCIT:C9290] -synonym: "myeloid neoplasm" EXACT [NCIT:C9290] -synonym: "myeloid tumor" EXACT [NCIT:C9290] +synonym: "myeloid malignancy" EXACT [] +synonym: "myeloid neoplasm" EXACT [DOID:0070004, NCIT:C9290] +synonym: "myeloid tumor" EXACT [] synonym: "myeloid tumour" EXACT OMO:0003005 [] -synonym: "myeloma" RELATED EXCLUDE [DOID:0070004] +synonym: "myeloma" RELATED EXCLUDE [] xref: DOID:0070004 {source="MONDO:equivalentTo"} xref: EFO:0002427 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:9975/1 {source="NCIT:C9290"} @@ -99238,13 +99242,13 @@ name: actinic keratosis def: "A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "actinic (solar) keratosis" EXACT [DOID:8866, NCIT:C3148] -synonym: "actinic keratosis" EXACT [MONDO:ambiguous] +synonym: "actinic keratosis" EXACT [DOID:8866, ICD10CM:L57.0, icd11.foundation:1803982621, MONDO:ambiguous, NCIT:C3148] synonym: "actinic keratosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "Senile hyperkeratosis" RELATED [DOID:8866] -synonym: "Senile keratosis" RELATED [NCIT:C3148] -synonym: "senile keratosis" RELATED [NCIT:C3148] +synonym: "Senile hyperkeratosis" RELATED [] +synonym: "Senile keratosis" RELATED [] +synonym: "senile keratosis" RELATED [] synonym: "SK - solar keratosis" EXACT [DOID:8866] -synonym: "solar keratosis" EXACT [DOID:8866] +synonym: "solar keratosis" EXACT [DOID:8866, ICD10CM:L57.0, icd11.foundation:1803982621, NCIT:C3148] xref: DOID:8866 {source="EFO:0002496", source="MONDO:equivalentTo"} xref: EFO:0002496 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0025127 {source="MONDO:otherHierarchy"} @@ -99329,7 +99333,7 @@ name: osteoarthritis def: "A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity." [NCIT:C3293] subset: otar {source="MONDO:OTAR"} synonym: "degenerative arthritis" EXACT [DOID:8398] -synonym: "degenerative joint disease" EXACT [DOID:8398] +synonym: "degenerative joint disease" EXACT [DOID:8398, NCIT:C3293] synonym: "hypertrophic arthritis" EXACT [DOID:8398] synonym: "osteoarthrosis" EXACT [DOID:8398] synonym: "osteoarthrosis and allied disorder" EXACT [DOID:8398] @@ -99368,8 +99372,8 @@ def: "A progressive degenerative disorder of the central nervous system characte subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} synonym: "paralysis agitans" EXACT [DOID:14330] -synonym: "Parkinson disease" EXACT CLINGEN_LABEL [] -synonym: "Parkinson's disease" EXACT [DOID:14330, ISBN-13:978-1-259-64403-0] +synonym: "Parkinson disease" EXACT CLINGEN_LABEL [DOID:14330, icd11.foundation:296066191, NCIT:C26845, OMIMPS:168600] +synonym: "Parkinson's disease" EXACT [DOID:14330, ISBN-13:978-1-259-64403-0, NCIT:C26845] synonym: "PD" EXACT ABBREVIATION [PMID:32789002] xref: DOID:14330 {source="MONDO:equivalentTo", source="EFO:0002508"} xref: ICD10CM:G20 {source="DOID:14330"} @@ -99405,9 +99409,9 @@ subset: gard_rare {source="GARD:4503", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:520820"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chronic progressive external ophthalmoplegia" RELATED [DOID:12558] -synonym: "chronic progressive external ophthalmoplegia [ambiguous]" EXACT [DOID:12558] -synonym: "progressive external ophthalmoplegia" EXACT [DOID:12558, ICD9CM:378.72] +synonym: "chronic progressive external ophthalmoplegia" RELATED [] +synonym: "chronic progressive external ophthalmoplegia [ambiguous]" EXACT [] +synonym: "progressive external ophthalmoplegia" EXACT [DOID:12558, ICD10CM:H49.4, icd11.foundation:1698427219, ICD9CM:378.72, Orphanet:520820] xref: DOID:12558 {source="MONDO:equivalentTo", source="EFO:0002509"} xref: EFO:0002509 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:4503 {source="MONDO:GARD"} @@ -99448,10 +99452,10 @@ synonym: "benign ovarian cystadenoma" EXACT [NCIT:C4060] synonym: "cystadenoma of ovary" EXACT [NCIT:C4060] synonym: "cystadenoma of the ovary" EXACT [NCIT:C4060] synonym: "cystoma serosum simplex" EXACT [DOID:3269, NCIT:C4060] -synonym: "ovarian cystadenoma" EXACT [NCIT:C4060] +synonym: "ovarian cystadenoma" EXACT [DOID:3269, NCIT:C4060] synonym: "ovary cystadenoma" EXACT [MONDO:patterns/location] synonym: "simple cystoma of ovary" EXACT [DOID:3269, NCIT:C4060] -synonym: "simple cystoma of the ovary" EXACT [NCIT:C4060] +synonym: "simple cystoma of the ovary" EXACT [DOID:3269, NCIT:C4060] synonym: "simple ovarian cystoma" EXACT [NCIT:C4060] xref: DOID:3269 {source="MONDO:equivalentTo", source="EFO:0002511"} xref: EFO:0002511 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -99479,10 +99483,10 @@ synonym: "pancreas ductal adenocarcinoma" EXACT [NCIT:C9120] synonym: "pancreas tubular adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic duct adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic duct cancer" EXACT [DOID:3587] -synonym: "pancreatic ductal adenocarcinoma" EXACT [NCIT:C9120] -synonym: "pancreatic ductal carcinoma" EXACT [MONDO:0002699] -synonym: "pancreatic infiltrating duct carcinoma, NOS" RELATED EXCLUDE [NCIT:C9120] -synonym: "pancreatic infiltrating duct carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C9120] +synonym: "pancreatic ductal adenocarcinoma" EXACT [DOID:3498, NCIT:C9120] +synonym: "pancreatic ductal carcinoma" EXACT [DOID:3587, MONDO:0002699] +synonym: "pancreatic infiltrating duct carcinoma, NOS" RELATED EXCLUDE [] +synonym: "pancreatic infiltrating duct carcinoma, not otherwise specified" RELATED EXCLUDE [] synonym: "pancreatic tubular adenocarcinoma" EXACT [NCIT:C9120] xref: DOID:3498 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0002517"} xref: DOID:3587 {source="MONDO:equivalentTo", source="EFO:0002517"} @@ -99599,7 +99603,7 @@ id: MONDO:0005190 name: obsolete macroglobulinemia def: "OBSOLETE. Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life." [EFO:0002616] subset: otar {source="MONDO:OTAR"} -synonym: "primary macroglobulinemia" EXACT [DOID:9080] +synonym: "primary macroglobulinemia" EXACT [] xref: DOID:9080 {source="MONDO:obsoleteEquivalent", source="EFO:0002616"} xref: EFO:0002616 {source="MONDO:obsoleteEquivalent", source="MONDO:EFO"} xref: ICD10CM:C88.0 {source="DOID:9080", source="MONDO:relatedTo"} @@ -99644,19 +99648,19 @@ id: MONDO:0005192 name: exocrine pancreatic carcinoma def: "A carcinoma that arises from epithelial cells of the exocrine pancreas" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of pancreas" BROAD [NCIT:C3850] -synonym: "cancer of the pancreas" BROAD [NCIT:C3850] +synonym: "cancer of pancreas" BROAD [] +synonym: "cancer of the pancreas" BROAD [] synonym: "carcinoma of exocrine pancreas" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of pancreas" EXACT [DOID:4905, NCIT:C3850] synonym: "carcinoma of the pancreas" EXACT [NCIT:C3850] -synonym: "exocrine cancer" BROAD [DOID:4905, NCIT:C3850] +synonym: "exocrine cancer" BROAD [] synonym: "exocrine pancreas carcinoma" EXACT [DOID:4905, MONDO:patterns/location, NCIT:C3850] -synonym: "pancreas cancer" BROAD [NCIT:C3850] +synonym: "pancreas cancer" BROAD [] synonym: "pancreas carcinoma" EXACT [NCIT:C3850] -synonym: "pancreatic cancer" BROAD [NCIT:C3850] -synonym: "pancreatic cancer (excluding islets), NOS" RELATED EXCLUDE [NCIT:C3850] -synonym: "pancreatic cancer (not islets)" EXACT [NCIT:C3850] -synonym: "pancreatic carcinoma" EXACT [NCIT:C3850] +synonym: "pancreatic cancer" BROAD [] +synonym: "pancreatic cancer (excluding islets), NOS" RELATED EXCLUDE [] +synonym: "pancreatic cancer (not islets)" EXACT [] +synonym: "pancreatic carcinoma" EXACT [DOID:4905, NCIT:C3850] synonym: "pancreatic carcinoma, familial" RELATED [DOID:4905, MESH:C535837] xref: DOID:4905 {source="MONDO:equivalentTo", source="EFO:0002618"} xref: EFO:0002618 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -99680,10 +99684,11 @@ id: MONDO:0005193 name: prostate intraepithelial neoplasia def: "A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade." [NCIT:C4064] subset: otar {source="MONDO:OTAR"} -synonym: "pin" EXACT [NCIT:C4064] +synonym: "PIN" EXACT ABBREVIATION [NCIT:C4064] +synonym: "pin" EXACT [] synonym: "pin - prostatic intraepithelial neoplasia" EXACT [NCIT:C4064] -synonym: "prostate intraepithelial neopl." EXACT [NCIT:C4064] -synonym: "prostate intraepithelial neoplasia (pin)" EXACT [NCIT:C4064] +synonym: "prostate intraepithelial neopl." EXACT [] +synonym: "prostate intraepithelial neoplasia (pin)" EXACT [] synonym: "prostatic intraepithelial neoplasia" EXACT [NCIT:C4064] xref: EFO:0002621 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:76480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -99751,20 +99756,20 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "neoplasm of the Thymus" EXACT [NCIT:C3412] synonym: "neoplasm of Thymus" EXACT [NCIT:C3412] -synonym: "neoplasm of thymus" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of thymus" EXACT [MONDO:patterns/neoplasm, NCIT:C3412] synonym: "thymic neoplasm" EXACT [NCIT:C3412] -synonym: "thymic tumor" EXACT [MONDO:0015080, NCIT:C3412] +synonym: "thymic tumor" EXACT [MONDO:0015080, NCIT:C3412, Orphanet:100100] synonym: "thymic tumour" EXACT OMO:0003005 [] synonym: "THYMUS" RELATED ABBREVIATION [ONCOTREE:THYMUS] synonym: "Thymus neoplasm" EXACT [NCIT:C3412] synonym: "thymus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Thymus tumor" EXACT [NCIT:C3412] -synonym: "thymus tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "thymus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3412] synonym: "Thymus tumour" EXACT OMO:0003005 [] synonym: "thymus tumour" EXACT OMO:0003005 [] synonym: "tumor of the Thymus" EXACT [NCIT:C3412] synonym: "tumor of Thymus" EXACT [NCIT:C3412] -synonym: "tumor of thymus" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of thymus" EXACT [MONDO:patterns/neoplasm, NCIT:C3412] synonym: "tumour of the Thymus" EXACT OMO:0003005 [] synonym: "tumour of Thymus" EXACT OMO:0003005 [] synonym: "tumour of thymus" EXACT OMO:0003005 [] @@ -99796,7 +99801,7 @@ subset: rare synonym: "intraepithelial neoplasia of the vulva" EXACT [NCIT:C4756] synonym: "intraepithelial neoplasia of vulva" EXACT [NCIT:C4756] synonym: "squamous vulvar intraepithelial neoplasia" EXACT [NCIT:C4756] -synonym: "VIN" EXACT ABBREVIATION [NCIT:C4756] +synonym: "VIN" EXACT ABBREVIATION [NCIT:C4756, Orphanet:137583] synonym: "vulva intraepithelial neoplasia" EXACT [NCIT:C4756] synonym: "vulval intraepithelial neoplasia" EXACT [NCIT:C4756] synonym: "vulvar intraepithelial tumor" EXACT [Orphanet:137583] @@ -99846,9 +99851,9 @@ subset: ordo_group_of_disorders {source="Orphanet:217632"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathy, constrictive" EXACT [DOID:397] -synonym: "familial restrictive cardiomyopathy" NARROW [DOID:397] +synonym: "familial restrictive cardiomyopathy" NARROW [] synonym: "primary restrictive cardiomyopathy" EXACT [DOID:397] -synonym: "restrictive cardiomyopathy" EXACT [DOID:397, NCIT:C62798] +synonym: "restrictive cardiomyopathy" EXACT [DOID:397, icd11.foundation:316495940, NCIT:C62798, Orphanet:217632] xref: DOID:397 {source="EFO:0002630", source="MONDO:equivalentTo"} xref: EFO:0002630 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:20531 {source="MONDO:GARD"} @@ -99877,7 +99882,7 @@ name: atopic IgE-mediated allergic disorder def: "A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms." [NCIT:C41366] comment: Editor notes: this is a finding in NCIT subset: otar {source="MONDO:OTAR"} -synonym: "Atopic allergy" RELATED [NCIT:C41366] +synonym: "Atopic allergy" RELATED [] synonym: "atopic state" RELATED [] synonym: "atopy" RELATED [] xref: EFO:0002686 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -99926,14 +99931,14 @@ id: MONDO:0005206 name: renal carcinoma def: "A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms." [NCIT:C9384] subset: otar {source="MONDO:OTAR"} -synonym: "carcinoma of kidney" EXACT [DOID:4451, MONDO:patterns/carcinoma] -synonym: "kidney (including renal cell) cancer" BROAD [NCIT:C9384] -synonym: "kidney (renal) cancer" BROAD [NCIT:C9384] -synonym: "kidney cancer" BROAD [NCIT:C9384] -synonym: "kidney cancer, NOS" BROAD EXCLUDE [NCIT:C9384] +synonym: "carcinoma of kidney" EXACT [DOID:4451, icd11.foundation:1075394530, MONDO:patterns/carcinoma] +synonym: "kidney (including renal cell) cancer" BROAD [] +synonym: "kidney (renal) cancer" BROAD [] +synonym: "kidney cancer" BROAD [] +synonym: "kidney cancer, NOS" BROAD EXCLUDE [] synonym: "kidney carcinoma" EXACT [DOID:4451, MONDO:patterns/location, NCIT:C9384] -synonym: "renal cancer" BROAD [NCIT:C9384] -synonym: "renal carcinoma" EXACT [NCIT:C9384] +synonym: "renal cancer" BROAD [] +synonym: "renal carcinoma" EXACT [DOID:4451, icd11.foundation:1075394530, NCIT:C9384] xref: DOID:4451 {source="EFO:0002890", source="MONDO:equivalentTo"} xref: EFO:0002890 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1075394530 {source="MONDO:equivalentTo"} @@ -99957,13 +99962,13 @@ subset: gard_rare {source="GARD:6059", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chorioblastoma" EXACT [NCIT:C2948] -synonym: "choriocarcinoma" EXACT [MONDO:ambiguous, NCIT:C2948] +synonym: "chorioblastoma" EXACT [] +synonym: "choriocarcinoma" EXACT [DOID:3594, MONDO:ambiguous, NCIT:C2948] synonym: "choriocarcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "choriocarcinoma, malignant" EXACT [NCIT:C2948] synonym: "chorioepithelioma" EXACT [DOID:3594, NCIT:C2948] synonym: "chorion carcinoma" EXACT [MONDO:patterns/location] -synonym: "chorionic carcinoma" EXACT [NCIT:C2948] +synonym: "chorionic carcinoma" EXACT [] xref: DOID:3594 {source="EFO:0002893", source="MONDO:equivalentTo"} xref: EFO:0002893 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6059 {source="MONDO:GARD"} @@ -100000,7 +100005,7 @@ synonym: "amelanotic melanoma of the skin" EXACT [NCIT:C4633] synonym: "amelanotic melanoma of zone of skin" EXACT [MONDO:design_pattern] synonym: "amelanotic skin melanoma" EXACT [NCIT:C4633] synonym: "skin amelanotic malignant melanoma" EXACT [DOID:10054] -synonym: "skin amelanotic melanoma" EXACT [MONDO:0000932] +synonym: "skin amelanotic melanoma" EXACT [DOID:10054, MONDO:0000932] synonym: "zone of skin amelanotic melanoma" EXACT [MONDO:patterns/location] xref: DOID:10054 {source="MONDO:equivalentTo"} xref: EFO:0002894 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -100032,18 +100037,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:213620"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "body of uterus sarcoma" EXACT [MONDO:patterns/location] +synonym: "body of uterus sarcoma" EXACT [MONDO:patterns/location, NCIT:C6339] synonym: "corpus uteri sarcoma" EXACT [NCIT:C6339] -synonym: "sarcoma of body of uterus" EXACT [MONDO:patterns/sarcoma] +synonym: "sarcoma of body of uterus" EXACT [MONDO:patterns/sarcoma, NCIT:C6339] synonym: "sarcoma of corpus uteri" EXACT [DOID:5165, NCIT:C6339] synonym: "sarcoma of the body of uterus" EXACT [NCIT:C6339] -synonym: "sarcoma of the corpus uteri" EXACT [MONDO:0016261] +synonym: "sarcoma of the corpus uteri" EXACT [MONDO:0016261, NCIT:C6339, Orphanet:213620] synonym: "sarcoma of the uterine body" EXACT [NCIT:C6339] synonym: "sarcoma of the uterine corpus" EXACT [NCIT:C6339] synonym: "sarcoma of the uterus" RELATED [GARD:0009383] synonym: "sarcoma of uterine body" EXACT [NCIT:C6339] synonym: "sarcoma of uterine corpus" EXACT [NCIT:C6339] -synonym: "sarcoma of uterus" EXACT [NCIT:C6339] +synonym: "sarcoma of uterus" EXACT [DOID:5165, NCIT:C6339] synonym: "uterine body sarcoma" EXACT [NCIT:C6339] synonym: "uterine sarcoma" RELATED [GARD:0009383] synonym: "uterine sarcoma/mesenchymal" RELATED [ONCOTREE:USARC] @@ -100074,11 +100079,11 @@ def: "An adenocarcinoma that arises from the ovary and is characterized by the p subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "malignant ovarian serous tumor" RELATED EXCLUDE [DOID:5744] +synonym: "malignant ovarian serous tumor" RELATED EXCLUDE [] synonym: "malignant ovarian serous tumour" RELATED OMO:0003005 [] synonym: "ovarian serous adenocarcinoma" EXACT [NCIT:C7550] -synonym: "ovarian serous carcinoma" EXACT [MONDO:0000547, NCIT:C7550] -synonym: "ovary serous adenocarcinoma" EXACT [MONDO:patterns/location] +synonym: "ovarian serous carcinoma" EXACT [DOID:0050933, MONDO:0000547, NCIT:C7550] +synonym: "ovary serous adenocarcinoma" EXACT [DOID:5744, MONDO:patterns/location] synonym: "serous adenocarcinoma of ovary" EXACT [NCIT:C7550] synonym: "serous adenocarcinoma of the ovary" EXACT [NCIT:C7550] synonym: "serous carcinoma of ovary" EXACT [DOID:5744, NCIT:C7550] @@ -100108,10 +100113,10 @@ subset: ordo_disorder {source="Orphanet:780"} subset: orphanet_rare {source="Orphanet:780"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "rhabdomyosarcoma" EXACT CLINGEN_LABEL [MONDO:ambiguous, NCIT:C3359] +synonym: "rhabdomyosarcoma" EXACT CLINGEN_LABEL [DOID:3247, MONDO:ambiguous, NCIT:C3359, Orphanet:780] synonym: "rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0019185] synonym: "rhabdomyosarcoma, malignant" EXACT [NCIT:C3359] -synonym: "rhabdomyosarcoma, NOS" RELATED EXCLUDE [NCIT:C3359] +synonym: "rhabdomyosarcoma, NOS" RELATED EXCLUDE [] xref: DOID:3247 {source="EFO:0002918", source="MONDO:equivalentTo"} xref: EFO:0002918 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:11951 {source="MONDO:GARD"} @@ -100182,17 +100187,17 @@ subset: ordo_disorder {source="Orphanet:494418"} subset: orphanet_rare {source="Orphanet:494418"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of the vulva" BROAD [NCIT:C4866] -synonym: "cancer of vulva" BROAD [NCIT:C4866] +synonym: "cancer of the vulva" BROAD [] +synonym: "cancer of vulva" BROAD [] synonym: "carcinoma of mammalian vulva" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the vulva" EXACT [NCIT:C4866] -synonym: "carcinoma of vulva" EXACT [DOID:1294, NCIT:C4866] +synonym: "carcinoma of vulva" EXACT [NCIT:C4866, Orphanet:494418] synonym: "mammalian vulva carcinoma" EXACT [MONDO:patterns/location] -synonym: "vulva cancer" BROAD [NCIT:C4866] -synonym: "vulva carcinoma" EXACT [NCIT:C4866] -synonym: "vulvar cancer" BROAD [NCIT:C4866] -synonym: "vulvar cancer, NOS" BROAD EXCLUDE [NCIT:C4866] -synonym: "vulvar carcinoma" EXACT [DOID:1294, NCIT:C4866] +synonym: "vulva cancer" BROAD [] +synonym: "vulva carcinoma" EXACT [DOID:1294, NCIT:C4866] +synonym: "vulvar cancer" BROAD [] +synonym: "vulvar cancer, NOS" BROAD EXCLUDE [] +synonym: "vulvar carcinoma" EXACT [DOID:1294, NCIT:C4866, Orphanet:494418] xref: DOID:1294 {source="MONDO:equivalentTo", source="EFO:0002921"} xref: EFO:0002921 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9349 {source="MONDO:GARD"} @@ -100213,13 +100218,13 @@ name: hypopharyngeal carcinoma def: "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx." [NCIT:C9465] comment: Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx {source="EFO:0002938"} subset: otar {source="MONDO:OTAR"} -synonym: "cancer of hypopharynx" BROAD [NCIT:C9465] -synonym: "cancer of the hypopharynx" BROAD [NCIT:C9465] +synonym: "cancer of hypopharynx" BROAD [] +synonym: "cancer of the hypopharynx" BROAD [] synonym: "carcinoma of hypopharynx" EXACT [MONDO:patterns/carcinoma, NCIT:C9465] synonym: "carcinoma of the hypopharynx" EXACT [NCIT:C9465] -synonym: "hypopharyngeal cancer" BROAD [NCIT:C9465] +synonym: "hypopharyngeal cancer" BROAD [] synonym: "hypopharyngeal carcinoma" EXACT [NCIT:C9465] -synonym: "hypopharyngeal throat cancer" BROAD [NCIT:C9465] +synonym: "hypopharyngeal throat cancer" BROAD [] synonym: "hypopharynx carcinoma" EXACT [MONDO:patterns/location] xref: EFO:0002938 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:237150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -100264,21 +100269,21 @@ name: breast fibrocystic disease def: "Fibrosis associated with cyst formation in the breast parenchyma." [NCIT:C3039] comment: Some sources classify this as neoplastic but we follow NCIT and classify as non-neoplastic subset: otar {source="MONDO:OTAR"} -synonym: "benign breast disease" EXACT [NCIT:C3039] +synonym: "benign breast disease" EXACT [] synonym: "breast fibrocystic change" EXACT [DOID:10354, NCIT:C3039] synonym: "cystic disease of breast" EXACT [NCIT:C3039] synonym: "cystic disease of the breast" EXACT [NCIT:C3039] -synonym: "diffuse cystic mastopathy" EXACT [DOID:10354, ICD9CM:610.1] +synonym: "diffuse cystic mastopathy" EXACT [DOID:10354, ICD9CM:610.1, NCIT:C3039] synonym: "fibrocystic breast" EXACT [NCIT:C3039] -synonym: "fibrocystic breast changes" EXACT [NCIT:C3039] +synonym: "fibrocystic breast changes" EXACT [] synonym: "fibrocystic breast disease" EXACT [NCIT:C3039] synonym: "fibrocystic change of breast" EXACT [NCIT:C3039] synonym: "fibrocystic change of the breast" EXACT [NCIT:C3039] synonym: "fibrocystic disease" EXACT [NCIT:C3039] -synonym: "fibrocystic disease of breast" EXACT [DOID:10354, MTH:119, MTH:302] +synonym: "fibrocystic disease of breast" EXACT [DOID:10354, MTH:119, MTH:302, NCIT:C3039] synonym: "fibrocystic disease of the breast" EXACT [NCIT:C3039] synonym: "fibrocystic mastopathy" EXACT [NCIT:C3039] -synonym: "mammary dysplasia" EXACT [NCIT:C3039] +synonym: "mammary dysplasia" EXACT [] xref: DOID:10354 {source="EFO:0003014", source="MONDO:equivalentTo"} xref: EFO:0003014 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:N60 {source="DOID:10354"} @@ -100306,7 +100311,7 @@ subset: ordo_disorder {source="Orphanet:247203"} subset: orphanet_rare {source="Orphanet:247203"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BDC" EXACT ABBREVIATION [NCIT:C6194, Orphanet:247203] +synonym: "BDC" EXACT ABBREVIATION [Orphanet:247203] synonym: "Bellini carcinoma" EXACT [Orphanet:247203] synonym: "Bellini duct carcinoma" EXACT [NCIT:C6194, Orphanet:247203] synonym: "Bellini’s duct carcinoma" RELATED [GARD:0009573] @@ -100317,16 +100322,17 @@ synonym: "carcinoma of renal collecting duct" EXACT [DOID:4464, NCIT:C6194] synonym: "carcinoma of the collecting ducts of Bellini" EXACT [NCIT:C6194] synonym: "carcinoma of the kidney collecting duct" EXACT [NCIT:C6194] synonym: "carcinoma of the renal collecting duct" EXACT [NCIT:C6194] -synonym: "cDC" EXACT [Orphanet:247203] -synonym: "collecting duct carcinoma" EXACT [NCIT:C6194] +synonym: "CDC" EXACT ABBREVIATION [Orphanet:247203] +synonym: "cDC" EXACT [] +synonym: "collecting duct carcinoma" EXACT [DOID:4464, NCIT:C6194, Orphanet:247203] synonym: "collecting duct carcinoma of the kidney" RELATED [GARD:0009573] synonym: "collecting duct of renal tubule carcinoma" EXACT [MONDO:patterns/location] -synonym: "collecting duct renal cancer" EXACT [NCIT:C6194] +synonym: "collecting duct renal cancer" EXACT [] synonym: "collecting duct renal cell carcinoma" EXACT [NCIT:C6194] synonym: "kidney collecting duct carcinoma" EXACT [NCIT:C6194] -synonym: "renal carcinoma, collecting duct type" EXACT [DOID:4464] +synonym: "renal carcinoma, collecting duct type" EXACT [DOID:4464, NCIT:C6194] synonym: "renal collecting duct carcinoma" EXACT [NCIT:C6194] -synonym: "renal medullary carcinoma" RELATED [DOID:4464, NCIT:C7572] +synonym: "renal medullary carcinoma" RELATED [] xref: DOID:4464 {source="EFO:0003016", source="MONDO:equivalentTo"} xref: EFO:0003016 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9573 {source="MONDO:GARD"} @@ -100351,8 +100357,8 @@ def: "A carcinoma that arises from the transitional epithelium of the renal pelv subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "kidney renal pelvis urothelial cancer" EXACT [NCIT:C7355] -synonym: "renal pelvis transitional cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7355] +synonym: "kidney renal pelvis urothelial cancer" EXACT [] +synonym: "renal pelvis transitional cell carcinoma" EXACT [DOID:5974, MONDO:patterns/location, NCIT:C7355] synonym: "renal pelvis urothelial cancer" EXACT [NCIT:C7355] synonym: "renal pelvis urothelial carcinoma" EXACT [NCIT:C7355] synonym: "transitional cell carcinoma of renal pelvis" EXACT [NCIT:C7355] @@ -100392,11 +100398,11 @@ synonym: "acute myeloblastic leukaemia with minimal differentiation" EXACT OMO:0 synonym: "acute myeloblastic leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "acute myeloblastic leukemia, minimally differentiated" EXACT [NCIT:C8460] synonym: "acute myelocytic leukaemia with minimal differentiation" EXACT OMO:0003005 [] -synonym: "acute myelocytic leukemia with minimal differentiation" EXACT [NCIT:C8460] +synonym: "acute myelocytic leukemia with minimal differentiation" EXACT [] synonym: "acute myelogenous leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "acute myelogenous leukemia with minimal differentiation" EXACT [NCIT:C8460] synonym: "acute myeloid leukaemia with minimal differentiation (MO)" EXACT OMO:0003005 [] -synonym: "acute myeloid leukemia with minimal differentiation" EXACT [NCIT:C8460] +synonym: "acute myeloid leukemia with minimal differentiation" EXACT [DOID:0081085, NCIT:C8460, Orphanet:98832] synonym: "acute myeloid leukemia with minimal differentiation (MO)" EXACT [NCIT:C8460] synonym: "acute myeloid leukemia, minimally differentiated" EXACT [NCIT:C8460] synonym: "AML M0" EXACT [Orphanet:98832] @@ -100404,12 +100410,12 @@ synonym: "AML with minimal differentiation" EXACT [NCIT:C8460] synonym: "AMLMD" RELATED ABBREVIATION [ONCOTREE:AMLMD] synonym: "M0 acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "M0 acute granulocytic leukaemia with minimal differentiation" EXACT OMO:0003005 [] -synonym: "M0 acute granulocytic leukemia" EXACT [NCIT:C8460] -synonym: "M0 acute granulocytic leukemia with minimal differentiation" EXACT [NCIT:C8460] +synonym: "M0 acute granulocytic leukemia" EXACT [] +synonym: "M0 acute granulocytic leukemia with minimal differentiation" EXACT [] synonym: "M0 acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "M0 acute myeloblastic leukemia" EXACT [NCIT:C8460] synonym: "M0 acute myelocytic leukaemia" EXACT OMO:0003005 [] -synonym: "M0 acute myelocytic leukemia" EXACT [NCIT:C8460] +synonym: "M0 acute myelocytic leukemia" EXACT [] synonym: "M0 acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "M0 acute myelogenous leukaemia with minimal differentiation" EXACT OMO:0003005 [] synonym: "M0 acute myelogenous leukemia" EXACT [NCIT:C8460] @@ -100447,7 +100453,7 @@ subset: orphanet_rare {source="Orphanet:98833"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute granulocytic leukaemia without maturation" EXACT OMO:0003005 [] -synonym: "acute granulocytic leukemia without maturation" EXACT [NCIT:C3249] +synonym: "acute granulocytic leukemia without maturation" EXACT [] synonym: "acute M1 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M1 myeloid leukemia" EXACT [NCIT:C3249] synonym: "acute myeloblastic leukaemia M1" EXACT OMO:0003005 [] @@ -100455,12 +100461,12 @@ synonym: "acute myeloblastic leukaemia type 1" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia M1" EXACT [Orphanet:98833] synonym: "acute myeloblastic leukemia type 1" RELATED [GARD:0000526] synonym: "acute myelocytic leukaemia without maturation" EXACT OMO:0003005 [] -synonym: "acute myelocytic leukemia without maturation" EXACT [NCIT:C3249] +synonym: "acute myelocytic leukemia without maturation" EXACT [] synonym: "acute myelogenous leukaemia without maturation" EXACT OMO:0003005 [] synonym: "acute myelogenous leukemia without maturation" EXACT [NCIT:C3249] synonym: "acute myeloid leukaemia without maturation" EXACT OMO:0003005 [] synonym: "acute myeloid leukaemia without maturation (FAB M1)" EXACT OMO:0003005 [] -synonym: "acute myeloid leukemia without maturation" EXACT [NCIT:C3249] +synonym: "acute myeloid leukemia without maturation" EXACT [DOID:0081086, NCIT:C3249] synonym: "acute myeloid leukemia without maturation (FAB M1)" EXACT [NCIT:C3249] synonym: "AML M1" EXACT [Orphanet:98833] synonym: "AML without maturation" EXACT [NCIT:C3249] @@ -100468,16 +100474,16 @@ synonym: "AWM" RELATED ABBREVIATION [ONCOTREE:AWM] synonym: "FAB M1" EXACT [NCIT:C3249] synonym: "M1 acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "M1 acute granulocytic leukaemia without maturation" EXACT OMO:0003005 [] -synonym: "M1 acute granulocytic leukemia" EXACT [NCIT:C3249] -synonym: "M1 acute granulocytic leukemia without maturation" EXACT [NCIT:C3249] +synonym: "M1 acute granulocytic leukemia" EXACT [] +synonym: "M1 acute granulocytic leukemia without maturation" EXACT [] synonym: "M1 acute myeloblastic leukaemia" EXACT OMO:0003005 [] synonym: "M1 acute myeloblastic leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute myeloblastic leukemia" EXACT [NCIT:C3249] synonym: "M1 acute myeloblastic leukemia without maturation" EXACT [NCIT:C3249] synonym: "M1 acute myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "M1 acute myelocytic leukaemia without maturation" EXACT OMO:0003005 [] -synonym: "M1 acute myelocytic leukemia" EXACT [NCIT:C3249] -synonym: "M1 acute myelocytic leukemia without maturation" EXACT [NCIT:C3249] +synonym: "M1 acute myelocytic leukemia" EXACT [] +synonym: "M1 acute myelocytic leukemia without maturation" EXACT [] synonym: "M1 acute myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "M1 acute myelogenous leukaemia without maturation" EXACT OMO:0003005 [] synonym: "M1 acute myelogenous leukemia" EXACT [NCIT:C3249] @@ -100548,7 +100554,7 @@ def: "An infectious disease caused by bacteria causing sepsis." [https://orcid.o subset: otar {source="MONDO:OTAR"} synonym: "bacteremia" BROAD [MESH:D016470] synonym: "Bacteremias" BROAD [MESH:D016470] -synonym: "bacterial sepsis" RELATED [DOID:0040085] +synonym: "bacterial sepsis" RELATED [] synonym: "symptomatic bacteremia" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0040085 {source="MONDO:equivalentTo"} xref: EFO:0003033 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -100569,7 +100575,7 @@ id: MONDO:0005230 name: cellulitis def: "Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area." [NCIT:C26715] subset: otar {source="MONDO:OTAR"} -synonym: "cellulitis" EXACT [MONDO:ambiguous] +synonym: "cellulitis" EXACT [DOID:3488, MONDO:ambiguous, NCIT:C26715] synonym: "cellulitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3488 {source="EFO:0003035", source="MONDO:equivalentTo"} xref: EFO:0003035 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -100603,12 +100609,12 @@ id: MONDO:0005231 name: hepatitis C virus infection def: "A viral infection caused by the hepatitis C virus." [NCIT:C3098] subset: otar {source="MONDO:OTAR"} -synonym: "chronic hepatitis C" NARROW [DOID:1883] -synonym: "hepatitis C infection" EXACT [DOID:1883] +synonym: "chronic hepatitis C" NARROW [] +synonym: "hepatitis C infection" EXACT [DOID:1883, NCIT:C3098] synonym: "Hepatitis C virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hepatitis C virus hepatitis" EXACT [] synonym: "hepatitis Nona nonB" EXACT [DOID:1883] -synonym: "hepatitis type C" EXACT [DOID:1883, MONDORULE:1] +synonym: "hepatitis type C" EXACT [MONDORULE:1] synonym: "NANBH" EXACT ABBREVIATION [DOID:1883, NCIT:C3098] synonym: "non-A, non-B Hepatitis" EXACT [NCIT:C3098] synonym: "viral hepatitis C" EXACT [DOID:1883] @@ -100643,7 +100649,7 @@ name: large cell carcinoma def: "A malignant epithelial neoplasm composed of large, atypical cells." [NCIT:C3780] subset: otar {source="MONDO:OTAR"} synonym: "carcinoma, large cell" EXACT [NCIT:C3780] -synonym: "large cell carcinoma" EXACT [NCIT:C3780] +synonym: "large cell carcinoma" EXACT [DOID:4552, NCIT:C3780] xref: DOID:4552 {source="MONDO:equivalentTo", source="EFO:0003050"} xref: ICDO:8012/3 {source="NCIT:C3780"} xref: MEDGEN:61665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -100660,16 +100666,16 @@ name: non-small cell lung carcinoma def: "A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy." [NCIT:P378] subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "non small cell lung cancer NOS" RELATED EXCLUDE [NCIT:C2926] +synonym: "non small cell lung cancer NOS" RELATED EXCLUDE [] synonym: "non-small cell cancer of lung" EXACT [NCIT:C2926] synonym: "non-small cell cancer of the lung" EXACT [NCIT:C2926] synonym: "non-small cell carcinoma of lung" EXACT [NCIT:C2926] synonym: "non-small cell carcinoma of the lung" EXACT [NCIT:C2926] synonym: "non-small cell lung cancer" EXACT [DOID:3908, NCIT:C2926] -synonym: "non-small cell lung cancer, NOS" RELATED EXCLUDE [NCIT:C2926] -synonym: "non-small cell lung carcinoma" EXACT CLINGEN_LABEL [MONDO:ambiguous, NCIT:C2926] +synonym: "non-small cell lung cancer, NOS" RELATED EXCLUDE [] +synonym: "non-small cell lung carcinoma" EXACT CLINGEN_LABEL [DOID:3908, MONDO:ambiguous, NCIT:C2926] synonym: "non-small cell lung carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "NSCLC" EXACT ABBREVIATION [DOID:3908, NCIT:C2926, Orphanet:488201] +synonym: "NSCLC" EXACT ABBREVIATION [DOID:3908, NCIT:C2926] synonym: "NSCLC - non-small cell lung cancer" EXACT [NCIT:C2926] xref: DOID:3908 {source="MONDO:equivalentTo", source="EFO:0003060"} xref: EFO:0003060 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -100722,7 +100728,7 @@ id: MONDO:0005236 name: xanthoma def: "A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues." [NCIT:C4071] subset: otar {source="MONDO:OTAR"} -synonym: "xanthoma" EXACT [MONDO:ambiguous] +synonym: "xanthoma" EXACT [MONDO:ambiguous, NCIT:C4071] synonym: "xanthoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:0003075 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0001114 {source="MONDO:otherHierarchy"} @@ -100746,8 +100752,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cellular myxoid liposarcoma" EXACT [DOID:5692, NCIT:C4252] -synonym: "round cell liposarcoma" EXACT [NCIT:C4252] -synonym: "round cell liposarcoma (morphologic abnormality)" EXACT [DOID:5692] +synonym: "round cell liposarcoma" EXACT [DOID:5692, NCIT:C4252] +synonym: "round cell liposarcoma (morphologic abnormality)" EXACT [] xref: DOID:5692 {source="MONDO:equivalentTo", source="EFO:0003084"} xref: EFO:0003084 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:171.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -100775,10 +100781,10 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of kidney" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of kidney" EXACT [] synonym: "disorder of kidney" EXACT [MONDO:patterns/location_top] -synonym: "kidney disease" EXACT [MONDO:patterns/location] +synonym: "kidney disease" EXACT [DOID:557, MONDO:patterns/location, NCIT:C3149] synonym: "kidney disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "kidney disorder" EXACT [NCIT:C3149] -synonym: "nephropathy" RELATED [DOID:557] +synonym: "nephropathy" RELATED [] synonym: "renal disease" EXACT [NCIT:C3149] synonym: "renal disorder" EXACT [NCIT:C3149] xref: DOID:557 {source="MONDO:equivalentTo", source="EFO:0003086"} @@ -100841,9 +100847,9 @@ comment: Editor note: NCIT draws a distinction between neuropathy and peripheral subset: gard_rare {source="GARD:12192", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neuropathy" EXACT [MONDO:0005337, NCIT:C4731] +synonym: "neuropathy" EXACT [DOID:870, MONDO:0005337, NCIT:C4731] synonym: "peripheral nerve disorder" EXACT [NCIT:C119734] -synonym: "peripheral neuropathy" EXACT [DOID:870, https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20] +synonym: "peripheral neuropathy" EXACT [DOID:870, https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20, NCIT:C119734] xref: DOID:870 {source="EFO:0004149", source="MONDO:equivalentTo"} xref: EFO:0003100 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:12192 {source="MONDO:GARD"} @@ -100878,7 +100884,7 @@ def: "An acute or chronic inflammation of the bone and its structures due to inf subset: gard_rare {source="GARD:7286", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "osteomyelitis" EXACT [MONDO:ambiguous] +synonym: "osteomyelitis" EXACT [DOID:1019, MONDO:ambiguous, NCIT:C27577] synonym: "osteomyelitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1019 {source="EFO:0003102", source="MONDO:equivalentTo"} xref: EFO:0003102 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -100918,12 +100924,12 @@ name: bacterial urinary tract infection def: "A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "bacterial urinary tract infection (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "infection, urinary tract" BROAD [NCIT:C50791] -synonym: "tract, infection of urinary" BROAD [NCIT:C50791] +synonym: "infection, urinary tract" BROAD [] +synonym: "tract, infection of urinary" BROAD [] synonym: "urinary tract infection" BROAD [MONDO:ambiguous] synonym: "urinary tract infection (disease)" BROAD [] -synonym: "urinary tract infectious disease" BROAD [NCIT:C50791] -synonym: "UTI" BROAD ABBREVIATION [NCIT:C50791] +synonym: "urinary tract infectious disease" BROAD [] +synonym: "UTI" BROAD ABBREVIATION [] xref: ICD9:599.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:675826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C50791 {source="EFO:0003103", source="MONDO:equivalentTo"} @@ -100939,7 +100945,7 @@ id: MONDO:0005249 name: pneumonia def: "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "acute pneumonia" NARROW [DOID:552] +synonym: "acute pneumonia" NARROW [] xref: DOID:552 {source="EFO:0003106", source="MONDO:equivalentTo"} xref: EFO:0003106 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:J09-J18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -100996,11 +101002,11 @@ id: MONDO:0005252 name: heart failure def: "Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction." [EFO:0003144] subset: otar {source="MONDO:OTAR"} -synonym: "cardiac failure" EXACT [NCIT:C50577] -synonym: "cardiac insufficiency" EXACT [NCIT:C50577] -synonym: "failure, heart" EXACT [NCIT:C50577] -synonym: "heart failure" EXACT [Wikipedia:Heart_failure] -synonym: "insufficiency, Cardiac" EXACT [NCIT:C50577] +synonym: "cardiac failure" EXACT [icd11.foundation:1458683894, NCIT:C50577] +synonym: "cardiac insufficiency" EXACT [] +synonym: "failure, heart" EXACT [] +synonym: "heart failure" EXACT [icd11.foundation:1458683894, NCIT:C50577, Wikipedia:Heart_failure] +synonym: "insufficiency, Cardiac" EXACT [] xref: EFO:0003144 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1458683894 {source="MONDO:equivalentTo"} xref: ICD9:428 {source="EFO:0003144"} @@ -101084,8 +101090,8 @@ subset: clingen {source="MONDO:CLINGEN"} subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atypical autism" RELATED [DOID:0060042] -synonym: "autism spectrum disorder" EXACT CLINGEN_LABEL [] +synonym: "atypical autism" RELATED [] +synonym: "autism spectrum disorder" EXACT CLINGEN_LABEL [DOID:0060041, icd11.foundation:437815624, NCIT:C88412] synonym: "autistic spectrum disorder" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "pervasive developmental disorder - not otherwise specified" EXACT [MONDO:0005261] synonym: "pervasive developmental disorders" EXACT [NCIT:C88412] @@ -101111,7 +101117,7 @@ comment: The name Aspergers is controversial, however, it seems to be the commun subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "asperger syndrome, susceptibility to" RELATED [OMIMPS:608638] +synonym: "asperger syndrome, susceptibility to" RELATED [] synonym: "ASPG" BROAD ABBREVIATION [] synonym: "autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language" EXACT [https://github.com/monarch-initiative/mondo/issues/705] xref: DOID:0050432 {source="MONDO:equivalentTo", source="EFO:0003757"} @@ -101135,11 +101141,11 @@ def: "Persistent deficits in social interaction and communication and interactio subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autism" EXACT [DOID:12849, MONDO:ambiguous, OMIM:209850] +synonym: "autism" EXACT [DOID:12849, MONDO:ambiguous, NCIT:C97161, OMIM:209850] synonym: "autism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "autism spectrum disorder" BROAD [OMIM:209850] -synonym: "autism, susceptiblity to" NARROW [OMIMPS:209850] -synonym: "autistic disorder" RELATED [OMIM:209850] +synonym: "autism spectrum disorder" BROAD [] +synonym: "autism, susceptiblity to" NARROW [] +synonym: "autistic disorder" RELATED [] synonym: "autistic disorder of childhood onset" EXACT [DOID:12849] synonym: "childhood autism" EXACT [DOID:12849] synonym: "infantile autism" EXACT [DOID:12849] @@ -101184,7 +101190,7 @@ id: MONDO:0005262 name: central nervous system cyst def: "A congenital or acquired cyst that is present in the central nervous system." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "central nervous system cyst" EXACT [MONDO:ambiguous] +synonym: "central nervous system cyst" EXACT [MONDO:ambiguous, NCIT:C4657] synonym: "central nervous system cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cleft cysts, Rathke's" RELATED [MESH:D020863] synonym: "CNS cyst" EXACT [NCIT:C4657] @@ -101226,21 +101232,21 @@ name: transient ischemic attack def: "A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit." [NCIT:C50781] subset: otar {source="MONDO:OTAR"} synonym: "attack, transient ischaemic" EXACT OMO:0003005 [] -synonym: "attack, transient ischemic" EXACT [NCIT:C50781] +synonym: "attack, transient ischemic" EXACT [] synonym: "ischaemic attack, transient" EXACT OMO:0003005 [] -synonym: "ischemic attack, transient" EXACT [NCIT:C50781] +synonym: "ischemic attack, transient" EXACT [] synonym: "TIA" EXACT ABBREVIATION [DOID:224, NCIT:C50781] -synonym: "TIA - transient ischaemic attack" EXACT OMO:0003005 [] -synonym: "TIA - transient ischemic attack" EXACT [DOID:224] +synonym: "TIA - transient ischaemic attack" EXACT OMO:0003005 [DOID:224] +synonym: "TIA - transient ischemic attack" EXACT [] synonym: "transient cerebral ischaemia" EXACT [DOID:224] -synonym: "transient cerebral ischaemia NOS" RELATED EXCLUDE [DOID:224] -synonym: "transient cerebral ischemia" RELATED [DOID:224] -synonym: "transient cerebral ischemia (disorder) [ambiguous]" EXACT [DOID:224] +synonym: "transient cerebral ischaemia NOS" RELATED EXCLUDE [] +synonym: "transient cerebral ischemia" RELATED [] +synonym: "transient cerebral ischemia (disorder) [ambiguous]" EXACT [] synonym: "transient ischaemic attack (disease)" EXACT OMO:0003005 [] synonym: "transient ischaemic attacks" EXACT OMO:0003005 [] synonym: "transient ischemic attack" EXACT [DOID:224, MONDO:ambiguous, MTH:NOCODE, NCIT:C50781] synonym: "transient ischemic attack (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "transient ischemic attacks" EXACT [NCIT:C50781] +synonym: "transient ischemic attacks" EXACT [DOID:224, NCIT:C50781] xref: DOID:224 {source="EFO:0003764", source="MONDO:equivalentTo"} xref: EFO:0003764 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0002326 {source="MONDO:otherHierarchy"} @@ -101272,7 +101278,7 @@ def: "A spectrum of small and large bowel inflammatory diseases of unknown etiol subset: otar {source="MONDO:OTAR"} synonym: "autoimmune bowel disorder" EXACT [NCIT:C3138] synonym: "IBD" EXACT ABBREVIATION [NCIT:C3138] -synonym: "inflammatory bowel disease" EXACT [NCIT:C3138] +synonym: "inflammatory bowel disease" EXACT [DOID:0050589, NCIT:C3138, OMIMPS:266600] xref: DOID:0050589 {source="MONDO:equivalentTo", source="EFO:0003767"} xref: EFO:0003767 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:558.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -101325,12 +101331,12 @@ name: heart disorder def: "A disease involving the heart and/or pericardium." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} subset: rare_grouping -synonym: "cardiac disease" EXACT [DOID:114] +synonym: "cardiac disease" EXACT [] synonym: "disease of heart" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of heart" EXACT [] synonym: "disorder of heart" EXACT [MONDO:patterns/location_top] synonym: "disorder of heart/pericardium" EXACT [https://github.com/monarch-initiative/mondo/issues/1189] -synonym: "heart disease" EXACT [MONDO:patterns/location, NCIT:C3079] +synonym: "heart disease" EXACT [DOID:114, MONDO:patterns/location, NCIT:C3079] synonym: "heart disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "heart disorder" EXACT [NCIT:C3079] synonym: "heart trouble" EXACT [NCIT:C3079] @@ -101405,12 +101411,12 @@ subset: otar {source="MONDO:OTAR"} synonym: "allergic disease or disorder" EXACT [] synonym: "allergic form of disease or disorder" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "allergic form of immune system disease" EXACT [MONDO:patterns/allergic_form_of_disease] -synonym: "allergic hypersensitivity disease" RELATED [DOID:1205] +synonym: "allergic hypersensitivity disease" RELATED [] synonym: "allergic reaction" EXACT [NCIT:C114476] -synonym: "allergic response" EXACT [NCIT:C114476] -synonym: "allergy" EXACT [DOID:1205, NCIT:C114476] +synonym: "allergic response" EXACT [] +synonym: "allergy" EXACT [NCIT:C114476] synonym: "disorder of type I hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] -synonym: "hypersensitivity" RELATED [DOID:1205] +synonym: "hypersensitivity" RELATED [] synonym: "hypersensitivity reaction type I disease" EXACT [DOID:1205] synonym: "type I hypersensitivity disease" EXACT [MONDO:design_pattern] xref: DOID:1205 {source="EFO:0003785", source="MONDO:equivalentTo"} @@ -101459,12 +101465,12 @@ subset: orphanet_rare {source="Orphanet:98826"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aregenerative anaemia" RELATED OMO:0003005 [] -synonym: "aregenerative anemia" RELATED [NCIT:C2872] +synonym: "aregenerative anemia" RELATED [] synonym: "MDS with single lineage dysplasia" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] -synonym: "MDS-SLD" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] +synonym: "MDS-SLD" EXACT ABBREVIATION [doi:10.5772/intechopen.82532, NCIT:C82591] synonym: "RA" EXACT ABBREVIATION [NCIT:C2872] synonym: "refractory anaemia" EXACT OMO:0003005 [] -synonym: "refractory anemia" EXACT [NCIT:C2872] +synonym: "refractory anemia" EXACT [NCIT:C2872, Orphanet:98826] xref: EFO:0003802 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19585 {source="MONDO:GARD"} xref: icd11.foundation:149518956 {source="MONDO:equivalentTo", source="Orphanet:98826", source="https://orcid.org/0000-0001-5208-3432"} @@ -101504,12 +101510,12 @@ def: "A disease involving the lung." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} synonym: "disease of lung" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of lung" EXACT [] -synonym: "disorder of lung" EXACT [MONDO:patterns/location_top] -synonym: "lung disease" EXACT [MONDO:patterns/location] +synonym: "disorder of lung" EXACT [MONDO:patterns/location_top, NCIT:C3198] +synonym: "lung disease" EXACT [DOID:850, MONDO:patterns/location] synonym: "lung disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "lung disorder" EXACT [] +synonym: "lung disorder" EXACT [NCIT:C3198] synonym: "lung disorders" EXACT [NCIT:C3198] -synonym: "pulmonary disease" EXACT [] +synonym: "pulmonary disease" EXACT [NCIT:C3198] synonym: "pulmonary diseases" EXACT [NCIT:C3198] synonym: "pulmonary disorder" EXACT [NCIT:C3198] synonym: "pulmonary disorders" EXACT [NCIT:C3198] @@ -101563,7 +101569,7 @@ def: "A common, severe type of vascular headache often associated with increased subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "migraine" EXACT [NCIT:C89715] +synonym: "migraine" EXACT [DOID:6364, NCIT:C89715] synonym: "migraine disorder" EXACT [DOID:6364] synonym: "migraine headache" EXACT [NCIT:C89715] synonym: "migraine variant" EXACT [DOID:6364] @@ -101604,9 +101610,9 @@ name: serous adenocarcinoma def: "An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma." [NCIT:C40101] subset: otar {source="MONDO:OTAR"} synonym: "serous adenocarcinoma" EXACT [DOID:3114, NCIT:C40101] -synonym: "serous carcinoma" RELATED [DOID:3114] -synonym: "serous cystadenocarcinoma" RELATED [DOID:3114] -synonym: "serous cystadenocarcinoma, NOS (morphologic abnormality)" RELATED [DOID:3114] +synonym: "serous carcinoma" RELATED [] +synonym: "serous cystadenocarcinoma" RELATED [] +synonym: "serous cystadenocarcinoma, NOS (morphologic abnormality)" RELATED [] xref: DOID:3114 {source="MONDO:equivalentTo", source="EFO:0003825"} xref: EFO:0003825 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MESH:D018284 {source="DOID:3114", source="EFO:0003825"} @@ -101622,9 +101628,9 @@ id: MONDO:0005279 name: pulmonary embolism def: "The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "embolism, pulmonary" EXACT [NCIT:C50713] +synonym: "embolism, pulmonary" EXACT [] synonym: "pulmonary artery embolism" EXACT [DOID:9477] -synonym: "pulmonary embolism" EXACT [MONDO:ambiguous] +synonym: "pulmonary embolism" EXACT [DOID:9477, MONDO:ambiguous, NCIT:C50713] synonym: "pulmonary embolism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "pulmonary embolus" EXACT [DOID:9477] xref: DOID:9477 {source="MONDO:equivalentTo", source="EFO:0003827"} @@ -101653,7 +101659,7 @@ def: "An infectious or non-infectious inflammatory process affecting the prostat subset: otar {source="MONDO:OTAR"} synonym: "inflammation of prostate gland" EXACT [] synonym: "prostate gland inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "prostatitis" EXACT [MONDO:ambiguous] +synonym: "prostatitis" EXACT [DOID:14654, MONDO:ambiguous, NCIT:C26866] synonym: "prostatitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:14654 {source="EFO:0003830", source="MONDO:equivalentTo"} xref: EFO:0003830 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -101688,7 +101694,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of gall bladder" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of gall bladder" EXACT [] synonym: "disorder of gall bladder" EXACT [MONDO:patterns/location_top] -synonym: "gall bladder disease" EXACT [MONDO:patterns/location] +synonym: "gall bladder disease" EXACT [MONDO:patterns/location, NCIT:C34631] synonym: "gall bladder disease or disorder" EXACT [MONDO:patterns/location] synonym: "Gall bladder disorder" EXACT [NCIT:C34631] synonym: "gallbladder disorder" EXACT [NCIT:C34631] @@ -101743,7 +101749,7 @@ def: "Any disease or disorder of the retina." [NCIT:C62601] subset: otar {source="MONDO:OTAR"} synonym: "eye disease of retina" EXACT [MONDO:design_pattern] synonym: "retina eye disease" EXACT [MONDO:patterns/location] -synonym: "retinopathy" EXACT [https://orcid.org/0000-0001-5208-3432] +synonym: "retinopathy" EXACT [https://orcid.org/0000-0001-5208-3432, NCIT:C62601] xref: DOID:5679 {source="MONDO:equivalentTo", source="EFO:0003839"} xref: EFO:0003839 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HGNC:8002 {source="EFO:0003839"} @@ -101909,7 +101915,7 @@ name: brain aneurysm def: "A congenital or acquired aneurysm within the cranium." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "brain aneurysm" EXACT [DOID:10941] -synonym: "intracranial aneurysm" RELATED [DOID:10941] +synonym: "intracranial aneurysm" RELATED [] xref: DOID:10941 {source="EFO:0003870", source="MONDO:equivalentTo"} xref: EFO:0003870 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:196706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -101931,7 +101937,7 @@ id: MONDO:0005292 name: colitis def: "Inflammation of the colon." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "colitis" EXACT [MONDO:ambiguous] +synonym: "colitis" EXACT [DOID:0060180, MONDO:ambiguous, NCIT:C26723] synonym: "colitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "colon inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of colon" EXACT [] @@ -101974,9 +101980,9 @@ name: peripheral vascular disease def: "Any disorder affecting blood flow through the veins or arteries outside of the heart." [NCIT:C35136] subset: otar {source="MONDO:OTAR"} synonym: "arterial occlusive disease" EXACT [DOID:341] -synonym: "disease, peripheral vascular" EXACT [NCIT:C35136] +synonym: "disease, peripheral vascular" EXACT [] synonym: "peripheral vascular disorder" EXACT [NCIT:C35136] -synonym: "vascular disease, peripheral" EXACT [NCIT:C35136] +synonym: "vascular disease, peripheral" EXACT [] xref: DOID:341 {source="MONDO:equivalentTo", source="EFO:0003875"} xref: EFO:0003875 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:443.81 {source="DOID:341"} @@ -101998,7 +102004,7 @@ def: "A symptom complex characterized by pain and weakness in skeletal muscle gr subset: otar {source="MONDO:OTAR"} synonym: "Charcot's syndrome" EXACT [DOID:3669] synonym: "intermittent claudication" EXACT [DOID:3669] -synonym: "intermittent claudication NOS" RELATED EXCLUDE [DOID:3669] +synonym: "intermittent claudication NOS" RELATED EXCLUDE [] xref: DOID:3669 {source="EFO:0003876", source="MONDO:equivalentTo"} xref: EFO:0003876 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:I73.9 {source="DOID:3669"} @@ -102030,7 +102036,7 @@ synonym: "mixed central and obstructive sleep apnea" RELATED [MESH:D012891] synonym: "mixed sleep apnea" RELATED [MESH:D012891] synonym: "mixed sleep Apneas" RELATED [MESH:D012891] synonym: "SDB" EXACT ABBREVIATION [NCIT:C148023] -synonym: "sleep apnea" EXACT [MESH:D012891, MONDO:ambiguous] +synonym: "sleep apnea" EXACT [DOID:0050847, ICD10CM:G47.3, MESH:D012891, MONDO:ambiguous] synonym: "sleep apnea syndrome" EXACT [MESH:D012891] synonym: "sleep apnea, mixed" RELATED [MESH:D012891] synonym: "sleep apnea, mixed central and obstructive" RELATED [MESH:D012891] @@ -102064,10 +102070,10 @@ name: urethritis def: "Inflammation of the urethra." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "inflammation of urethra" EXACT [] -synonym: "non-gonococcal urethritis" EXACT [DOID:1343, NCIT:C27079] -synonym: "Nongonococcal urethritis" NARROW [DOID:1343] +synonym: "non-gonococcal urethritis" EXACT [DOID:1343] +synonym: "Nongonococcal urethritis" NARROW [] synonym: "urethra inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "urethritis" EXACT [MONDO:ambiguous, NCIT:C26904] +synonym: "urethritis" EXACT [DOID:1343, MONDO:ambiguous, NCIT:C26904] synonym: "urethritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1343 {source="MONDO:equivalentTo", source="EFO:0003878"} xref: EFO:0003878 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -102097,12 +102103,12 @@ def: "A condition of reduced bone mass, with decreased cortical thickness and a subset: gard_rare {source="GARD:11932", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone mineral density variation QTL, osteoporosis" EXACT [OMIM:166710, OMIM:genemap2] -synonym: "fracture, hip, susceptibility to" RELATED [OMIM:166710] -synonym: "osteoporosis, involutional" RELATED [OMIM:166710] -synonym: "osteoporosis, postmenopausal" EXACT [OMIM:166710, OMIM:genemap2] -synonym: "osteoporosis, postmenopausal, susceptibility" EXACT [OMIM:166710, OMIM:genemap2] -synonym: "osteoporosis, susceptibility to" EXACT [OMIM:166710, OMIM:genemap2] +synonym: "bone mineral density variation QTL, osteoporosis" EXACT [] +synonym: "fracture, hip, susceptibility to" RELATED [] +synonym: "osteoporosis, involutional" RELATED [] +synonym: "osteoporosis, postmenopausal" EXACT [OMIM:166710] +synonym: "osteoporosis, postmenopausal, susceptibility" EXACT [] +synonym: "osteoporosis, susceptibility to" EXACT [] xref: DOID:11476 {source="EFO:0003882", source="MONDO:equivalentTo"} xref: EFO:0003882 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:11932 {source="MONDO:GARD"} @@ -102135,12 +102141,12 @@ name: brain ischemia def: "Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage." [NCIT:C78394] subset: otar {source="MONDO:OTAR"} synonym: "brain ischaemic disease" EXACT OMO:0003005 [] -synonym: "brain ischemia" EXACT [MONDO:patterns/location] +synonym: "brain ischemia" EXACT [DOID:2316, MONDO:patterns/location] synonym: "brain ischemic disease" EXACT [MONDO:patterns/location] synonym: "cerebrovascular ischemia" EXACT [NCIT:C78394] synonym: "ischaemic disease of brain" EXACT OMO:0003005 [] -synonym: "ischaemic encephalopathy" EXACT OMO:0003005 [] -synonym: "ischemia cerebrovascular" EXACT [NCIT:C78394] +synonym: "ischaemic encephalopathy" EXACT OMO:0003005 [DOID:2316] +synonym: "ischemia cerebrovascular" EXACT [] synonym: "ischemic disease of brain" EXACT [MONDO:design_pattern] synonym: "ischemic encephalopathy" EXACT [DOID:2316] xref: DOID:2316 {source="EFO:0003883", source="MONDO:equivalentTo"} @@ -102165,11 +102171,11 @@ id: MONDO:0005300 name: chronic kidney disease def: "Impairment of the renal function secondary to chronic kidney damage persisting for three or more months." [NCIT:C80078] subset: otar {source="MONDO:OTAR"} -synonym: "chronic kidney disease" EXACT [NCIT:C80078] -synonym: "chronic kidney failure" RELATED EXCLUDE [DOID:784] -synonym: "chronic renal disease" EXACT [DOID:784, NCIT:C80078] -synonym: "chronic renal failure syndrome" NARROW [DOID:784] -synonym: "chronic renal insufficiency" RELATED [NCIT:C80078] +synonym: "chronic kidney disease" EXACT [DOID:784, icd11.foundation:412389819, NCIT:C80078] +synonym: "chronic kidney failure" RELATED EXCLUDE [] +synonym: "chronic renal disease" EXACT [DOID:784, ICD10CM:N18.9, icd11.foundation:412389819, NCIT:C80078] +synonym: "chronic renal failure syndrome" NARROW [] +synonym: "chronic renal insufficiency" RELATED [] synonym: "CKD" EXACT ABBREVIATION [DOID:784] synonym: "CKD - chronic kidney disease" EXACT [NCIT:C80078] synonym: "kidney disease, chronic" EXACT [MONDO:patterns/chronic] @@ -102205,8 +102211,8 @@ name: multiple sclerosis def: "A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "generalised multiple sclerosis" NARROW OMO:0003005 [] -synonym: "generalized multiple sclerosis" NARROW [DOID:2377] -synonym: "insular sclerosis" RELATED [DOID:2377] +synonym: "generalized multiple sclerosis" NARROW [] +synonym: "insular sclerosis" RELATED [] xref: DOID:2377 {source="EFO:0003885", source="MONDO:equivalentTo"} xref: ICD10CM:G35 {source="DOID:2377", source="MONDO:equivalentTo"} xref: icd11.foundation:1298865187 {source="MONDO:equivalentTo"} @@ -102237,7 +102243,7 @@ name: attention deficit hyperactivity disorder, inattentive type def: "A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life." [NCIT:C35092] synonym: "ADD" EXACT ABBREVIATION [NCIT:C35092] synonym: "ADHD" EXACT ABBREVIATION [DOID:1094] -synonym: "attention deficit disorder" EXACT [DOID:1094] +synonym: "attention deficit disorder" EXACT [DOID:1094, NCIT:C35092] synonym: "attention deficit hyperactivity disorder, inattentive/distractible type" EXACT [NCIT:C35092] synonym: "attention deficit hyperactivity disorder, predominantly inattentive type" EXACT [NCIT:C35092] synonym: "hyperkinetic disorder" EXACT [DOID:1094] @@ -102293,11 +102299,11 @@ synonym: "biliary tree neoplasm" EXACT [] synonym: "biliary tree neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "biliary tree tumor" EXACT [MONDO:patterns/neoplasm] synonym: "biliary tree tumour" EXACT OMO:0003005 [] -synonym: "extrahepatic bile duct neoplasm" RELATED EXCLUDE [DOID:0050625] +synonym: "extrahepatic bile duct neoplasm" RELATED EXCLUDE [] synonym: "neoplasm of biliary tree" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of extrahepatic bile ducts" EXACT [DOID:0050625] synonym: "tumor of biliary tree" EXACT [MONDO:patterns/neoplasm] -synonym: "tumor of the extrahepatic bile duct" RELATED EXCLUDE [DOID:0050625] +synonym: "tumor of the extrahepatic bile duct" RELATED EXCLUDE [] synonym: "tumour of biliary tree" EXACT OMO:0003005 [] synonym: "tumour of the extrahepatic bile duct" RELATED OMO:0003005 [] xref: DOID:0050625 {source="EFO:0003891", source="MONDO:equivalentTo"} @@ -102332,8 +102338,8 @@ id: MONDO:0005306 name: ankylosing spondylitis def: "An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "ankylosing spondylarthritis" EXACT [Orphanet:825] -synonym: "Bekhterev syndrome" EXACT [DOID:7147, Orphanet:825] +synonym: "ankylosing spondylarthritis" EXACT [] +synonym: "Bekhterev syndrome" EXACT [DOID:7147] synonym: "Bekhterev's disease" EXACT [DOID:7147] synonym: "Marie-Strumpell disease" EXACT [DOID:7147] xref: DOID:7147 {source="EFO:0003898", source="MONDO:equivalentTo"} @@ -102378,7 +102384,7 @@ subset: ordo_group_of_disorders {source="Orphanet:363250"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ciliopathies" RELATED [GTR:AN0966173] -synonym: "ciliopathy" EXACT CLINGEN_LABEL [] +synonym: "ciliopathy" EXACT CLINGEN_LABEL [DOID:0060340, Orphanet:363250] xref: DOID:0060340 {source="MONDO:equivalentTo", source="EFO:0003900"} xref: EFO:0003900 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:21544 {source="MONDO:GARD"} @@ -102413,7 +102419,7 @@ id: MONDO:0005310 name: atrial flutter def: "A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC)" [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "atrial flutter" EXACT [MONDO:ambiguous] +synonym: "atrial flutter" EXACT [MONDO:ambiguous, NCIT:C51224] synonym: "atrial flutter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:0003911 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0004749 {source="MONDO:otherHierarchy"} @@ -102494,8 +102500,8 @@ subset: orphanet_rare {source="Orphanet:391673"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "NEC" EXACT ABBREVIATION [NCIT:C84915] -synonym: "necrotizing enterocolitis" EXACT [NCIT:C84915] -synonym: "necrotizing enterocolitis in fetus or newborn" NARROW [NCIT:C84915] +synonym: "necrotizing enterocolitis" EXACT [NCIT:C84915, Orphanet:391673] +synonym: "necrotizing enterocolitis in fetus or newborn" NARROW [] synonym: "necrotizing enterocolitis in foetus or newborn" NARROW OMO:0003005 [] xref: EFO:0003928 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9767 {source="MONDO:GARD"} @@ -102539,7 +102545,7 @@ subset: otar {source="MONDO:OTAR"} subset: other_hierarchy synonym: "fracture" EXACT [NCIT:C3046] synonym: "fracture of bone" EXACT [NCIT:C3046] -synonym: "fracture(s)" EXACT [NCIT:C3046] +synonym: "fracture(s)" EXACT [] xref: EFO:0003931 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:M97-M97 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MESH:D050723 {source="EFO:0003931", source="MONDO:equivalentTo"} @@ -102553,7 +102559,7 @@ id: MONDO:0005316 name: bacterial vaginosis def: "Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "BV" BROAD ABBREVIATION [NCIT:C116973] +synonym: "BV" BROAD ABBREVIATION [] xref: DOID:3385 {source="MONDO:equivalentTo", source="EFO:0003932"} xref: EFO:0003932 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:63323819 {source="MONDO:equivalentTo"} @@ -102583,7 +102589,7 @@ id: MONDO:0005318 name: canker sore def: "A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology." [NCIT:C62546] subset: otar {source="MONDO:OTAR"} -synonym: "aphthous stomatitis" RELATED [NCIT:C62546] +synonym: "aphthous stomatitis" RELATED [] synonym: "aphthous ulcer" EXACT [NCIT:C62546] synonym: "canker sore" EXACT [NCIT:C62546] xref: EFO:0003938 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -102640,11 +102646,11 @@ subset: ordo_disorder {source="Orphanet:98974"} subset: orphanet_rare {source="Orphanet:98974"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "corneal dystrophy, Fuchs endothelial" EXACT [MONDO:0000164] +synonym: "corneal dystrophy, Fuchs endothelial" EXACT [MONDO:0000164, OMIMPS:136800] synonym: "Endoepithelial corneal dystrophy" EXACT [Orphanet:98974] synonym: "FCED" EXACT ABBREVIATION [DOID:11555] synonym: "FECD" EXACT ABBREVIATION [Orphanet:98974] -synonym: "Fuchs endothelial corneal dystrophy" RELATED [Orphanet:98974] +synonym: "Fuchs endothelial corneal dystrophy" RELATED [] synonym: "Fuchs endothelial dystrophy" EXACT [NCIT:C84721] synonym: "Fuchs' corneal dystrophy" EXACT [DOID:11555] synonym: "Fuchs' endothelial corneal dystrophy" EXACT [DOID:11555] @@ -102763,11 +102769,11 @@ synonym: "disorder of eye proper" RELATED [] synonym: "disorder of eyeball" RELATED [] synonym: "disorder of eyeball of camera-type eye" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "disorder of globe" RELATED [] -synonym: "eye disease" EXACT [MONDO:patterns/location, NCIT:C26767] +synonym: "eye disease" EXACT [DOID:5614, MONDO:patterns/location, NCIT:C26767] synonym: "eye disorder" EXACT [NCIT:C26767] synonym: "eyeball of camera-type eye disease" EXACT [MONDO:design_pattern] synonym: "eyeball of camera-type eye disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "globe disease" EXACT [MONDO:0001524] +synonym: "globe disease" EXACT [DOID:1242, MONDO:0001524] xref: DOID:1242 {source="MONDO:equivalentTo"} xref: DOID:5614 {source="MONDO:equivalentTo", source="EFO:0003966", source="MONDO:preferredExternal"} xref: EFO:0003966 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -102946,11 +102952,11 @@ name: open-angle glaucoma def: "Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "glaucoma simplex" EXACT [DOID:1067] -synonym: "glaucoma, primary open angle" EXACT [MONDO:Lexical, OMIM:137760] +synonym: "glaucoma, primary open angle" EXACT [MONDO:Lexical] synonym: "open angle glaucoma" EXACT [DOID:1067, NCIT:C34641] synonym: "pigmentary glaucoma" EXACT [DOID:1067, ICD9CM:365.13] -synonym: "POAG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:137760] -synonym: "primary open angle glaucoma" EXACT [OMIM:137760] +synonym: "POAG" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "primary open angle glaucoma" EXACT [] synonym: "wide-angle glaucoma" EXACT [DOID:1067] xref: DOID:1067 {source="EFO:0004190", source="MONDO:equivalentTo"} xref: EFO:0004190 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -102981,7 +102987,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alopecia androgenetica, male pattern baldness" EXACT [DOID:0050801] synonym: "androgenetic alopecia" EXACT [DOID:0050801] -synonym: "androgenic alopecia" RELATED [DOID:0050801] +synonym: "androgenic alopecia" RELATED [] synonym: "male pattern baldness" NARROW [https://ghr.nlm.nih.gov/condition/androgenetic-alopecia] xref: DOID:0050801 {source="MONDO:equivalentTo", source="EFO:0004191"} xref: EFO:0004191 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -103003,7 +103009,7 @@ subset: gard_rare {source="GARD:5782", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alopecia areata" EXACT [MESH:D000506] +synonym: "alopecia areata" EXACT [DOID:986, ICD10CM:L63, icd11.foundation:65720611, MESH:D000506] synonym: "alopecia circumscripta" RELATED [MESH:D000506] synonym: "circumscribed alopecia" EXACT [DOID:986] synonym: "patchy loss of hair" RELATED [] @@ -103027,25 +103033,25 @@ id: MONDO:0005341 name: skin basal cell carcinoma def: "The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas." [NCIT:C2921] subset: otar {source="MONDO:OTAR"} -synonym: "basal cell cancer" BROAD [DOID:2513, NCIT:C2921] -synonym: "basal cell carcinoma" BROAD [NCIT:C2921] -synonym: "basal cell carcinoma NOS (morphologic abnormality)" RELATED EXCLUDE [DOID:2513] +synonym: "basal cell cancer" BROAD [] +synonym: "basal cell carcinoma" BROAD [] +synonym: "basal cell carcinoma NOS (morphologic abnormality)" RELATED EXCLUDE [] synonym: "basal cell carcinoma of skin" EXACT [DOID:2513, MTH:100, NCIT:C2921] synonym: "basal cell carcinoma of the skin" EXACT [NCIT:C2921] synonym: "basal cell epithelioma" EXACT [NCIT:C2921] -synonym: "basal cell neoplasm" BROAD EXCLUDE [DOID:2513] -synonym: "basal cell neoplasm (morphologic abnormality)" BROAD EXCLUDE [DOID:2513] -synonym: "basal cell neoplasm NOS (morphologic abnormality)" BROAD EXCLUDE [DOID:2513] +synonym: "basal cell neoplasm" BROAD EXCLUDE [] +synonym: "basal cell neoplasm (morphologic abnormality)" BROAD EXCLUDE [] +synonym: "basal cell neoplasm NOS (morphologic abnormality)" BROAD EXCLUDE [] synonym: "basal cell skin carcinoma" EXACT [NCIT:C2921] -synonym: "basal cell tumor" BROAD [DOID:2513, NCIT:C3784] -synonym: "basal cell tumor (morphologic abnormality)" BROAD EXCLUDE [DOID:2513] +synonym: "basal cell tumor" BROAD [] +synonym: "basal cell tumor (morphologic abnormality)" BROAD EXCLUDE [] synonym: "basal cell tumour" BROAD OMO:0003005 [] synonym: "basal cell tumour (morphologic abnormality)" BROAD OMO:0003005 [] -synonym: "BCC" BROAD ABBREVIATION [NCIT:C2921] -synonym: "epithelioma basal cell" RELATED [DOID:2513] -synonym: "malignant basal cell neoplasm" BROAD EXCLUDE [DOID:2513] -synonym: "malignant basal cell tumor" BROAD EXCLUDE [DOID:2513] -synonym: "malignant basal cell tumor (morphologic abnormality)" BROAD EXCLUDE [DOID:2513] +synonym: "BCC" BROAD ABBREVIATION [] +synonym: "epithelioma basal cell" RELATED [] +synonym: "malignant basal cell neoplasm" BROAD EXCLUDE [] +synonym: "malignant basal cell tumor" BROAD EXCLUDE [] +synonym: "malignant basal cell tumor (morphologic abnormality)" BROAD EXCLUDE [] synonym: "malignant basal cell tumour" BROAD OMO:0003005 [] synonym: "malignant basal cell tumour (morphologic abnormality)" BROAD OMO:0003005 [] synonym: "skin basal cell cancer" EXACT [NCIT:C2921] @@ -103091,10 +103097,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Berger's disease" EXACT [NCIT:C34643] synonym: "Berger's IgA or IgG nephropathy" EXACT [DOID:2986] -synonym: "focal glomerulonephritis" EXACT [DOID:2986, NCIT:C35280] -synonym: "IgA glomerulonephritis" EXACT [DOID:2986] -synonym: "IgA Nephropathy" EXACT [NORD:1298] -synonym: "IgA nephropathy" EXACT [DOID:2986, Orphanet:34145] +synonym: "focal glomerulonephritis" EXACT [DOID:2986] +synonym: "IgA glomerulonephritis" EXACT [DOID:2986, NCIT:C34643] +synonym: "IgA Nephropathy" EXACT [DOID:2986, NCIT:C34643, NORD:1298, Orphanet:34145] +synonym: "IgA nephropathy" EXACT [DOID:2986, NCIT:C34643, Orphanet:34145] synonym: "primary IgA nephropathy" EXACT [DOID:2986] synonym: "segmental glomerulonephritis" EXACT [DOID:2986] xref: DOID:2986 {source="MONDO:equivalentTo", source="EFO:0004194"} @@ -103126,13 +103132,13 @@ id: MONDO:0005344 name: hepatitis B virus infection def: "A viral infection caused by the hepatitis B virus." [NCIT:C3097] subset: otar {source="MONDO:OTAR"} -synonym: "chronic hepatitis B" NARROW [DOID:2043] -synonym: "Hepatitis B" EXACT [NCIT:C3097] -synonym: "Hepatitis B infection" EXACT [NCIT:C3097] -synonym: "hepatitis B infection" EXACT [DOID:2043] +synonym: "chronic hepatitis B" NARROW [] +synonym: "Hepatitis B" EXACT [DOID:2043, NCIT:C3097] +synonym: "Hepatitis B infection" EXACT [DOID:2043, NCIT:C3097] +synonym: "hepatitis B infection" EXACT [DOID:2043, NCIT:C3097] synonym: "Hepatitis B virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hepatitis B virus hepatitis" EXACT [] -synonym: "hepatitis type B" EXACT [DOID:2043, MONDORULE:1] +synonym: "hepatitis type B" EXACT [MONDORULE:1] synonym: "serum hepatitis" RELATED [DOID:2043] synonym: "viral Hepatitis B" EXACT [NCIT:C3097] xref: DOID:2043 {source="MONDO:equivalentTo"} @@ -103161,7 +103167,7 @@ def: "Hypospadias is the displacement of the urethral meatus on the ventrum of t subset: ordo_morphological_anomaly {source="Orphanet:440"} subset: otar {source="MONDO:OTAR"} synonym: "familial hypospadias" EXACT [DOID:10892] -synonym: "hypospadias" EXACT [MONDO:ambiguous] +synonym: "hypospadias" EXACT [DOID:10892, icd11.foundation:810247271, MONDO:ambiguous, NCIT:C40341, OMIMPS:300633] synonym: "hypospadias (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hypospadias familial" RELATED [GARD:0002929] xref: DOID:10892 {source="MONDO:equivalentTo", source="EFO:0004209"} @@ -103244,7 +103250,7 @@ def: "Formation of spongy bone in the labyrinth capsule which can progress towar subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "otosclerosis" EXACT [MONDO:ambiguous] +synonym: "otosclerosis" EXACT [DOID:12185, icd11.foundation:1242649410, MONDO:ambiguous, NCIT:C185242, OMIMPS:166800] synonym: "otosclerosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12185 {source="EFO:0004213", source="MONDO:equivalentTo"} xref: EFO:0004213 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -103273,7 +103279,7 @@ id: MONDO:0005350 name: abdominal aortic aneurysm def: "Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "aortic aneurysm, familial abdominal 1" NARROW [DOID:7693] +synonym: "aortic aneurysm, familial abdominal 1" NARROW [] xref: DOID:7693 {source="EFO:0004214", source="MONDO:equivalentTo"} xref: EFO:0004214 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1154633768 {source="MONDO:equivalentTo"} @@ -103371,8 +103377,8 @@ name: coronary vasospasm def: "Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "coronary artery spasm" EXACT [DOID:11840] -synonym: "coronary artery vasospasm" RELATED [DOID:11840] -synonym: "coronary vasospasm" EXACT [DOID:11840, NCIT:C34515] +synonym: "coronary artery vasospasm" RELATED [] +synonym: "coronary vasospasm" EXACT [DOID:11840] xref: DOID:11840 {source="EFO:0004225", source="MONDO:equivalentTo"} xref: EFO:0004225 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:413.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -103391,14 +103397,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1014"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CJD" EXACT ABBREVIATION [DOID:11949] -synonym: "CJD (Creutzfeldt Jakob disease)" EXACT [DOID:11949] +synonym: "CJD" EXACT ABBREVIATION [DOID:11949, NCIT:C26802] +synonym: "CJD (Creutzfeldt Jakob disease)" EXACT [] synonym: "classic Creutzfeldt-Jakob disease" EXACT [NCIT:C26802] synonym: "Creutzfeldt Jacob syndrome" EXACT [DOID:11949] -synonym: "Creutzfeldt Jakob Disease" EXACT [NORD:1014] +synonym: "Creutzfeldt Jakob Disease" EXACT [DOID:11949, NORD:1014] synonym: "Creutzfeldt Jakob disease" EXACT [DOID:11949] synonym: "Creutzfeldt-Jacob disease" EXACT [DOID:11949, NCIT:C26802] -synonym: "Creutzfeldt-Jakob disease" RELATED [DOID:11949] +synonym: "Creutzfeldt-Jakob disease" RELATED [] synonym: "Jakob-Creutzfeldt disease" EXACT [DOID:11949, ICD9CM:046.1] synonym: "Subacute spongiform encephalopathy" EXACT [DOID:11949] synonym: "transmissible virus dementia" EXACT [DOID:11949] @@ -103474,7 +103480,7 @@ def: "Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esoph subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EoE" EXACT [Orphanet:73247] +synonym: "EoE" EXACT [NCIT:C27105] xref: DOID:13922 {source="EFO:0004232", source="MONDO:equivalentTo"} xref: EFO:0004232 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K20 {source="Orphanet:73247/ntbt", source="Orphanet:73247"} @@ -103501,14 +103507,14 @@ subset: otar {source="MONDO:OTAR"} synonym: "dysfunction, erectile" RELATED [MESH:D007172] synonym: "erectile dysfunction" EXACT [DOID:1875, MONDO:ambiguous] synonym: "erectile dysfunction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "impotence" RELATED [DOID:1875, MESH:D007172] +synonym: "impotence" RELATED [MESH:D007172] synonym: "impotence, male" RELATED [MESH:D007172] synonym: "impotence, male sexual" RELATED [MESH:D007172] -synonym: "male erectile Disorder" EXACT [NCIT:C34801] +synonym: "male erectile Disorder" EXACT [] synonym: "male impotence" RELATED [MESH:D007172] synonym: "male sexual impotence" RELATED [MESH:D007172] synonym: "sexual impotence" EXACT [DOID:1875] -synonym: "sexual impotence (finding)" EXACT [DOID:1875] +synonym: "sexual impotence (finding)" EXACT [] synonym: "sexual impotence, Male" RELATED [MESH:D007172] xref: DOID:1875 {source="EFO:0004234", source="MONDO:equivalentTo"} xref: EFO:0004234 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -103550,8 +103556,8 @@ synonym: "Basedow's disease" RELATED [DOID:12361] synonym: "exophthalmic goiter" EXACT [DOID:12361] synonym: "exophthalmic goitre" EXACT OMO:0003005 [] synonym: "grave's disease" EXACT [DOID:12361] -synonym: "Graves disease" EXACT [DOID:12361] -synonym: "Graves' disease" RELATED [DOID:12361] +synonym: "Graves disease" EXACT [DOID:12361, NCIT:C3071] +synonym: "Graves' disease" RELATED [] synonym: "Graves' hyperthyroidism" RELATED [GARD:0006549] synonym: "parry disease" RELATED [GARD:0006549] xref: DOID:12361 {source="EFO:0004237", source="MONDO:equivalentTo"} @@ -103591,7 +103597,7 @@ synonym: "hearing impairment" RELATED [MESH:D034381] synonym: "hearing loss" EXACT [NCIT:C35731] synonym: "hypoacuses" EXACT [MESH:D034381] synonym: "hypoacusis" EXACT [MESH:D034381] -synonym: "loss of hearing" EXACT [NCIT:C35731] +synonym: "loss of hearing" EXACT [] synonym: "loss, hearing" EXACT [MESH:D034381] xref: EFO:0004238 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H90 {source="MONDO:equivalentTo"} @@ -103628,7 +103634,7 @@ id: MONDO:0005367 name: heroin dependence def: "Physical and psychological dependence on the drug heroin." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "Heroin addiction" EXACT [NCIT:C34694] +synonym: "Heroin addiction" EXACT [icd11.foundation:443161089, NCIT:C34694] xref: DOID:9976 {source="MONDO:equivalentTo", source="EFO:0004240"} xref: EFO:0004240 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:443161089 {source="MONDO:equivalentTo"} @@ -103656,8 +103662,8 @@ comment: Editor note: In NCIT all carcinoid tumors are grade 1, but the name is subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoid" EXACT [NCIT:C2915] -synonym: "carcinoid tumor" EXACT [MONDO:ambiguous, NCIT:C2915] +synonym: "carcinoid" EXACT [] +synonym: "carcinoid tumor" EXACT [MONDO:ambiguous] synonym: "carcinoid tumor (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "NET G1" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -103764,14 +103770,14 @@ def: "Neoplasms that affect the bone marrow. Such neoplasms may arise in the bon subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone marrow cancer" NARROW [DOID:4960] +synonym: "bone marrow cancer" NARROW [] synonym: "bone marrow neoplasm" EXACT [DOID:4960, NCIT:C35370] synonym: "bone marrow neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "bone marrow tumor" EXACT [DOID:4960, MONDO:patterns/neoplasm, NCIT:C35370] synonym: "bone marrow tumour" EXACT OMO:0003005 [] -synonym: "malignant bone marrow tumor" NARROW [DOID:4960] +synonym: "malignant bone marrow tumor" NARROW [] synonym: "malignant bone marrow tumour" NARROW OMO:0003005 [] -synonym: "malignant neoplasm of bone marrow" NARROW EXCLUDE [DOID:4960] +synonym: "malignant neoplasm of bone marrow" NARROW EXCLUDE [] synonym: "neoplasm of bone marrow" EXACT [MONDO:patterns/neoplasm, NCIT:C35370] synonym: "tumor of bone marrow" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of bone marrow" EXACT OMO:0003005 [] @@ -103834,7 +103840,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "membranous Glomerulonephropathy" EXACT [NCIT:C34645] -synonym: "membranous nephropathy" EXACT [DOID:10976] +synonym: "membranous nephropathy" EXACT [DOID:10976, NCIT:C34645] xref: DOID:10976 {source="EFO:0004254", source="MONDO:equivalentTo"} xref: EFO:0004254 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:N03.2 {source="DOID:10976"} @@ -103856,9 +103862,9 @@ id: MONDO:0005377 name: nephrotic syndrome def: "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction." [NCIT:C34845] subset: otar {source="MONDO:OTAR"} -synonym: "Finnish congenital nephrosis" RELATED EXCLUDE [DOID:1184] -synonym: "nephrosis" RELATED [NCIT:C34845] -synonym: "nephrotic syndrome" EXACT [NCIT:C34845] +synonym: "Finnish congenital nephrosis" RELATED EXCLUDE [] +synonym: "nephrosis" RELATED [] +synonym: "nephrotic syndrome" EXACT [DOID:1184, icd11.foundation:1184209951, NCIT:C34845] synonym: "nephrotic syndromes" EXACT [MESH:D009404] synonym: "syndrome, nephrotic" EXACT [MESH:D009404] synonym: "syndromes, nephrotic" EXACT [MESH:D009404] @@ -103894,19 +103900,19 @@ id: MONDO:0005379 name: neurotic disorder def: "A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears." [NCIT:C34848] subset: otar {source="MONDO:OTAR"} -synonym: "depressive neurosis" NARROW [DOID:4964, MTH:NOCODE] +synonym: "depressive neurosis" NARROW [MTH:NOCODE] synonym: "disorder, neurotic" RELATED [MESH:D009497] synonym: "disorders, neurotic" RELATED [MESH:D009497] synonym: "neuroses" RELATED [MESH:D009497] synonym: "neurosis" EXACT [DOID:4964, NCIT:C34848] -synonym: "neurotic depression" NARROW [DOID:4964] -synonym: "neurotic depression reactive type" NARROW [DOID:4964] -synonym: "neurotic depressive state" NARROW [DOID:4964] -synonym: "neurotic disorder" EXACT [MESH:D009497] +synonym: "neurotic depression" NARROW [] +synonym: "neurotic depression reactive type" NARROW [] +synonym: "neurotic depressive state" NARROW [] +synonym: "neurotic disorder" EXACT [DOID:4964, MESH:D009497] synonym: "Psychoneuroses" RELATED [MESH:D009497] synonym: "psychoneurosis" EXACT [DOID:4964] -synonym: "psychoneurosis NOS" NARROW [DOID:4964] -synonym: "reactive depression" NARROW [DOID:4964] +synonym: "psychoneurosis NOS" NARROW [] +synonym: "reactive depression" NARROW [] xref: DOID:4964 {source="EFO:0004257", source="MONDO:equivalentTo"} xref: EFO:0004257 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F34.1 {source="MONDO:relatedTo", source="DOID:4964"} @@ -103948,10 +103954,10 @@ subset: ordo_group_of_disorders {source="Orphanet:399158"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aseptic necrosis" EXACT [DOID:10159] -synonym: "bone necrosis" EXACT [DOID:10159, NCIT:C34880, Orphanet:399158] +synonym: "bone necrosis" EXACT [DOID:10159, icd11.foundation:536467755, NCIT:C34880, Orphanet:399158] synonym: "ischaemic bone disease" EXACT OMO:0003005 [] -synonym: "ischemic bone disease" EXACT [MONDO:0000835] -synonym: "osteonecrosis" EXACT [NCIT:C34880] +synonym: "ischemic bone disease" EXACT [DOID:0080008, MONDO:0000835] +synonym: "osteonecrosis" EXACT [DOID:10159, ICD10CM:M87, icd11.foundation:536467755, NCIT:C34880, Orphanet:399158] xref: DOID:0080008 {source="MONDO:equivalentTo"} xref: DOID:10159 {source="EFO:0004259", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:0004259 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -104009,7 +104015,7 @@ synonym: "bone element disease or disorder" EXACT [MONDO:design_pattern, MONDO:p synonym: "disease of bone element" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of bone element" EXACT [] synonym: "disorder of bone element" EXACT [MONDO:patterns/location_top] -synonym: "rare bone disease related to a common gene or pathway defect" RELATED [Orphanet:364803] +synonym: "rare bone disease related to a common gene or pathway defect" RELATED [] synonym: "skeletal disease" RELATED [DOID:0080001] xref: DOID:0080001 {source="MONDO:equivalentTo", source="EFO:0004260"} xref: EFO:0004260 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -104044,11 +104050,11 @@ synonym: "bone Paget disease" EXACT [NCIT:C3292] synonym: "bone Paget's disease" EXACT [NCIT:C3292] synonym: "familial Paget's disease of bone" RELATED [DOID:5408, MESH:C538098] synonym: "osseous Paget's disease" EXACT [DOID:5408, NCIT:C3292] -synonym: "osteitis deformans" EXACT [DOID:5408, NCIT:C3292, Orphanet:280110] -synonym: "Paget disease of bone" EXACT [DOID:5408, NCIT:C3292] +synonym: "osteitis deformans" EXACT [DOID:5408, NCIT:C3292] +synonym: "Paget disease of bone" EXACT [DOID:5408, OMIMPS:167250] synonym: "Paget's bone disease" EXACT [DOID:5408, MTH:547] -synonym: "Paget's disease" RELATED [NCIT:C3292] -synonym: "Paget's disease of bone" EXACT [NCIT:C3292] +synonym: "Paget's disease" RELATED [] +synonym: "Paget's disease of bone" EXACT [DOID:5408, NCIT:C3292] synonym: "Paget's disease of the bone" EXACT [NCIT:C3292] synonym: "Pagets disease (bone)" EXACT [NCIT:C3292] xref: DOID:5408 {source="MONDO:equivalentTo"} @@ -104100,7 +104106,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} synonym: "focal epilepsy" EXACT CLINGEN_LABEL [DOID:2234, https://clinicalgenome.org/affiliation/40005/] synonym: "localisation-related epilepsy" EXACT [DOID:2234] -synonym: "partial epilepsy" EXACT [DOID:2234] +synonym: "partial epilepsy" EXACT [DOID:2234, NCIT:C122812] xref: DOID:2234 {source="MONDO:equivalentTo", source="EFO:0004263"} xref: EFO:0004263 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:345.50 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -104171,9 +104177,10 @@ id: MONDO:0005386 name: peripheral arterial disease def: "A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest." [NCIT:C84496] subset: otar {source="MONDO:OTAR"} -synonym: "pad" EXACT [NCIT:C84496] +synonym: "PAD" EXACT ABBREVIATION [NCIT:C84496] +synonym: "pad" EXACT [] synonym: "peripheral arterial disorder" EXACT [NCIT:C84496] -synonym: "peripheral artery disease" RELATED [DOID:0050830] +synonym: "peripheral artery disease" RELATED [] xref: DOID:0050830 {source="EFO:0004265", source="MONDO:equivalentTo"} xref: EFO:0004265 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:443.81 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -104192,14 +104199,14 @@ def: "Absent or premature cessation of ovarian function due to a pathologic proc subset: otar {source="MONDO:OTAR"} synonym: "female hypergonadotropic hypogonadism" RELATED [] synonym: "hypergonadotrophic ovarian failure" RELATED [] -synonym: "hypergonadotropic hypogonadism" RELATED [DOID:5426] -synonym: "hypergonadotropic hypogonadism (female)" RELATED [NCIT:C113352] -synonym: "premature menopause" RELATED [DOID:5426] -synonym: "premature ovarian failure" RELATED [MESH:D016649, Orphanet:619] -synonym: "premature ovarian insufficiency" RELATED [DOID:5426] +synonym: "hypergonadotropic hypogonadism" RELATED [] +synonym: "hypergonadotropic hypogonadism (female)" RELATED [] +synonym: "premature menopause" RELATED [] +synonym: "premature ovarian failure" RELATED [MESH:D016649] +synonym: "premature ovarian insufficiency" RELATED [] synonym: "primary female hypogonadism" RELATED [] -synonym: "primary ovarian failure" EXACT [NCIT:C113352] -synonym: "primary ovarian insufficiency" EXACT [DOID:5426, NCIT:C113352] +synonym: "primary ovarian failure" EXACT [ICD10CM:E28.3, NCIT:C113352] +synonym: "primary ovarian insufficiency" EXACT [DOID:5426] xref: DOID:5426 {source="EFO:0004266", source="MONDO:equivalentTo"} xref: EFO:0004266 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E28.3 {source="MONDO:equivalentTo", source="DOID:5426"} @@ -104231,16 +104238,16 @@ subset: ordo_disorder {source="Orphanet:186"} subset: orphanet_rare {source="Orphanet:186"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "biliary cirrhosis, primary" RELATED [OMIMPS:109720] +synonym: "biliary cirrhosis, primary" RELATED [] synonym: "biliary liver cirrhosis" EXACT [DOID:12236] synonym: "cholestatic cirrhosis" EXACT [DOID:12236] synonym: "chronic non-suppurative destructive cholangitis" EXACT [NCIT:C27167] -synonym: "chronic nonsuppurative destructive cholangitis" EXACT [DOID:12236] +synonym: "chronic nonsuppurative destructive cholangitis" EXACT [DOID:12236, icd11.foundation:649193479] synonym: "familial primary biliary cirrhosis" RELATED [GARD:0007459] -synonym: "Hanot syndrome" EXACT [Orphanet:186] +synonym: "Hanot syndrome" EXACT [icd11.foundation:649193479, Orphanet:186] synonym: "PBC" EXACT ABBREVIATION [Orphanet:186] -synonym: "primary Bilary cirrhosis (PBC)" EXACT [NCIT:C27167] -synonym: "primary biliary cirrhosis" EXACT [Orphanet:186] +synonym: "primary Bilary cirrhosis (PBC)" EXACT [] +synonym: "primary biliary cirrhosis" EXACT [DOID:12236, icd11.foundation:649193479, NCIT:C27167, Orphanet:186] xref: DOID:12236 {source="EFO:0004267", source="MONDO:equivalentTo"} xref: EFO:1001486 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7459 {source="MONDO:GARD"} @@ -104286,8 +104293,8 @@ name: restless legs syndrome def: "A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs." [NCIT:C84501] subset: otar {source="MONDO:OTAR"} synonym: "restless leg syndrome" EXACT [NCIT:C84501] -synonym: "RLS" BROAD ABBREVIATION [NCIT:C84501] -synonym: "WED" BROAD ABBREVIATION [DOID:0050425] +synonym: "RLS" BROAD ABBREVIATION [] +synonym: "WED" BROAD ABBREVIATION [] synonym: "Willis-Ekbom disease" EXACT [DOID:0050425] synonym: "Wittmaack-Ekbom syndrome" EXACT [DOID:0050425] xref: DOID:0050425 {source="MONDO:equivalentTo", source="EFO:0004270"} @@ -104334,7 +104341,7 @@ def: "A condition characterized by painful swelling of the joints, which is caus subset: otar {source="MONDO:OTAR"} synonym: "articular gout" EXACT [DOID:13189] synonym: "chronic gout" BROAD [https://orcid.org/0000-0002-8169-9049, PMID:26889313] -synonym: "gout" EXACT [NCIT:C34650] +synonym: "gout" EXACT [DOID:13189, ICD10CM:M10, icd11.foundation:395622227, NCIT:C34650] synonym: "gouty arthritis" EXACT [DOID:13189] synonym: "gouty arthropathy" EXACT [DOID:13189, ICD9CM:274.0] synonym: "tophaceous disease" BROAD [https://orcid.org/0000-0002-8169-9049, PMID:26889313] @@ -104391,8 +104398,8 @@ name: movement disorder def: "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement." [NCIT:C116757] subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "movement disease" EXACT [MONDO:0003151] -synonym: "movement disorder" EXACT CLINGEN_LABEL [] +synonym: "movement disease" EXACT [DOID:480, MONDO:0003151] +synonym: "movement disorder" EXACT CLINGEN_LABEL [NCIT:C116757] synonym: "movement disorders" EXACT [NCIT:C116757] xref: DOID:480 {source="MONDO:equivalentTo"} xref: EFO:0004280 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -104430,7 +104437,7 @@ id: MONDO:0005397 name: goiter def: "Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "goiter" EXACT [DOID:12176, MONDO:ambiguous] +synonym: "goiter" EXACT [DOID:12176, MONDO:ambiguous, NCIT:C26785] synonym: "goiter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "goitre (disease)" EXACT OMO:0003005 [] synonym: "Thyromegaly" EXACT [NCIT:C26785] @@ -104469,7 +104476,7 @@ id: MONDO:0005399 name: venous thromboembolism def: "Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream." [NCIT:C99537] subset: otar {source="MONDO:OTAR"} -synonym: "venous thromboembolism" EXACT [NCIT:C99537] +synonym: "venous thromboembolism" EXACT [icd11.foundation:1197943614, NCIT:C99537] xref: EFO:0004286 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1197943614 {source="MONDO:equivalentTo"} xref: MEDGEN:348285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -104522,15 +104529,15 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "leukemia, LYMPHOCYTIC, malignant" EXACT [NCIT:C7539] -synonym: "lymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "lymphocytic leukaemia" EXACT OMO:0003005 [DOID:1037] synonym: "lymphocytic leukemia" EXACT [NCIT:C7539] synonym: "lymphogenous leukaemia" EXACT OMO:0003005 [] synonym: "lymphogenous leukemia" EXACT [NCIT:C7539] synonym: "lymphoid leukaemia (disease)" EXACT OMO:0003005 [] -synonym: "lymphoid leukemia" EXACT [MONDO:ambiguous, NCIT:C7539] +synonym: "lymphoid leukemia" EXACT [DOID:1037, MONDO:ambiguous, NCIT:C7539] synonym: "lymphoid leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "subacute lymphoid leukaemia" EXACT OMO:0003005 [] -synonym: "subacute lymphoid leukemia" EXACT [DOID:10747] +synonym: "subacute lymphoid leukemia" EXACT [] xref: DOID:1037 {source="MONDO:equivalentTo"} xref: DOID:10747 {source="EFO:0004289", source="MONDO:equivalentObsolete"} xref: EFO:0004289 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -104567,11 +104574,11 @@ id: MONDO:0005404 name: myalgic encephalomeyelitis/chronic fatigue syndrome def: "A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities." [http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome] subset: otar {source="MONDO:OTAR"} -synonym: "CFS" EXACT ABBREVIATION [Wikipedia:Chronic_fatigue_syndrome#Naming] -synonym: "chronic fatigue immune dysfunction syndrome" EXACT [Orphanet:1983] -synonym: "chronic fatigue syndrome" EXACT [DOID:8544] +synonym: "CFS" EXACT ABBREVIATION [DOID:8544, Wikipedia:Chronic_fatigue_syndrome#Naming] +synonym: "chronic fatigue immune dysfunction syndrome" EXACT [] +synonym: "chronic fatigue syndrome" EXACT [DOID:8544, NCIT:C3037] synonym: "myalgic encephalitis" EXACT [DOID:8544, Wikipedia:Chronic_fatigue_syndrome#Naming] -synonym: "myalgic encephalomyelitis" EXACT [DOID:8544, Orphanet:1983, Wikipedia:Chronic_fatigue_syndrome#Naming] +synonym: "myalgic encephalomyelitis" EXACT [DOID:8544, NCIT:C3037, Wikipedia:Chronic_fatigue_syndrome#Naming] synonym: "Postviral fatigue syndrome" EXACT [DOID:8544] synonym: "systemic exertion intolerance disease" EXACT [Wikipedia:Chronic_fatigue_syndrome#Naming] xref: DOID:8544 {source="EFO:0004540", source="MONDO:equivalentTo"} @@ -104609,7 +104616,7 @@ name: childhood onset asthma def: "Asthma that starts in childhood." [EFO:0004591] subset: otar {source="MONDO:OTAR"} synonym: "asthma of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "childhood asthma" EXACT [MONDO:design_pattern] +synonym: "childhood asthma" EXACT [DOID:0080815, MONDO:design_pattern] synonym: "paediatric asthma" EXACT OMO:0003005 [] synonym: "pediatric asthma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0080815 {source="MONDO:equivalentTo"} @@ -104627,7 +104634,7 @@ def: "Carbohydrate intolerance first diagnosed during pregnancy." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "diabetes in pregnancy" EXACT [NCIT:C34942] synonym: "GDM" EXACT ABBREVIATION [DOID:11714] -synonym: "gestational diabetes mellitus" EXACT [DOID:11714] +synonym: "gestational diabetes mellitus" EXACT [DOID:11714, NCIT:C34942] synonym: "maternal gestational diabetes mellitus" EXACT [DOID:11714] xref: DOID:11714 {source="MONDO:equivalentTo", source="EFO:0004593"} xref: EFO:0004593 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -104696,9 +104703,9 @@ subset: rare synonym: "cancer of gall bladder" EXACT [MONDO:patterns/cancer] synonym: "gall bladder cancer" EXACT [MONDO:patterns/location] synonym: "gallbladder Ca" EXACT [DOID:3121] -synonym: "gallbladder neoplasm" BROAD [DOID:3121, MTH:NOCODE] +synonym: "gallbladder neoplasm" BROAD [MTH:NOCODE] synonym: "localised malignant gallbladder neoplasm" NARROW OMO:0003005 [] -synonym: "localized malignant gallbladder neoplasm" NARROW [DOID:3121, NCIT:C35676] +synonym: "localized malignant gallbladder neoplasm" NARROW [] synonym: "malignant gall bladder neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant gallbladder neoplasm" EXACT [NCIT:C7481] synonym: "malignant gallbladder tumor" EXACT [NCIT:C7481] @@ -104706,11 +104713,11 @@ synonym: "malignant gallbladder tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of gall bladder" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of gallbladder" EXACT [DOID:3121, NCIT:C7481] synonym: "malignant neoplasm of the gallbladder" EXACT [NCIT:C7481] -synonym: "malignant tumor of gallbladder" EXACT [DOID:3121, NCIT:C7481] +synonym: "malignant tumor of gallbladder" EXACT [NCIT:C7481] synonym: "malignant tumor of the gallbladder" EXACT [DOID:3121, NCIT:C7481] -synonym: "malignant tumour of gallbladder" EXACT OMO:0003005 [] +synonym: "malignant tumour of gallbladder" EXACT OMO:0003005 [DOID:3121] synonym: "malignant tumour of the gallbladder" EXACT OMO:0003005 [] -synonym: "tumor of the gallbladder" BROAD [DOID:3121, NCIT:C3048] +synonym: "tumor of the gallbladder" BROAD [] synonym: "tumour of the gallbladder" BROAD OMO:0003005 [] xref: DOID:3121 {source="MONDO:equivalentTo", source="EFO:0004606"} xref: ICD10CM:C23 {source="DOID:3121"} @@ -104745,7 +104752,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "curling Ulcer" EXACT [DOID:1724] synonym: "curling's ulcers" EXACT [DOID:1724] synonym: "duodenal ulcer (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "stress Ulcer" NARROW [DOID:1724, NCIT:C35263] +synonym: "stress Ulcer" NARROW [] xref: DOID:1724 {source="MONDO:equivalentTo", source="EFO:0004607"} xref: EFO:0004607 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0002588 {source="MONDO:otherHierarchy"} @@ -104827,7 +104834,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "exudative senile macular degeneration of retina" EXACT [DOID:10873, ICD9CM:362.52] -synonym: "Kuhnt-Junius degeneration" RELATED [DOID:10873] +synonym: "Kuhnt-Junius degeneration" RELATED [] synonym: "neovascular age-related macular degeneration" EXACT [DOID:10873] synonym: "Senile macular degeneration, wet" EXACT [DOID:10873] synonym: "wet age related macular degeneration" EXACT [MedDRA:10075568, PMID:16178119] @@ -104874,10 +104881,10 @@ name: hypothyroidism def: "Abnormally low levels of thyroid hormone." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "hypothyroid" RELATED [] -synonym: "hypothyroidism" EXACT [] +synonym: "hypothyroidism" EXACT [DOID:1459, icd11.foundation:1722092627, NCIT:C26800] synonym: "thyroid deficiency" EXACT [DOID:1459] synonym: "thyroid insufficiency" EXACT [DOID:1459] -synonym: "underactive thyroid" EXACT [NCIT:C26800] +synonym: "underactive thyroid" EXACT [] xref: DOID:1459 {source="MONDO:equivalentTo", source="EFO:0004705"} xref: EFO:0004705 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E03.9 {source="DOID:1459"} @@ -104922,7 +104929,7 @@ id: MONDO:0005424 name: elephantiasis def: "Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "elephantiasis NOS" RELATED EXCLUDE [DOID:4976] +synonym: "elephantiasis NOS" RELATED EXCLUDE [] xref: DOID:4976 {source="MONDO:equivalentTo", source="EFO:0004711"} xref: EFO:0004711 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:8582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -104983,11 +104990,11 @@ comment: Editor note: check relationship to spongiform encephalopathy NCIT:C2758 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "prion disease pathway" EXACT [DOID:649, NCIT:C38853] +synonym: "prion disease pathway" EXACT [DOID:649] synonym: "prion induced disorder" EXACT [DOID:649] synonym: "prion protein disease" EXACT [DOID:649] -synonym: "spongiform encephalopathy" EXACT [DOID:649, NCIT:C27585] -synonym: "transmissible spongiform encephalopathy" RELATED EXCLUDE [DOID:649] +synonym: "spongiform encephalopathy" EXACT [DOID:649, NCIT:C128346] +synonym: "transmissible spongiform encephalopathy" RELATED EXCLUDE [] xref: DOID:649 {source="EFO:0004720", source="MONDO:equivalentTo"} xref: EFO:0004720 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:A80-A89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -105040,7 +105047,7 @@ property_value: IAO:0006012 "2024-09-01" xsd:string id: MONDO:0005433 name: alcohol withdrawal subset: otar {source="MONDO:OTAR"} -synonym: "alcohol withdrawal syndrome" EXACT [] +synonym: "alcohol withdrawal syndrome" EXACT [icd11.foundation:998231424] xref: EFO:0004777 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:998231424 {source="MONDO:equivalentTo"} xref: ICD9:291.81 {source="MONDO:equivalentTo", source="EFO:0004777", source="MONDO:i2s"} @@ -105138,8 +105145,8 @@ synonym: "familial hypercholesteremia" EXACT [DOID:13810] synonym: "Fredrickson type IIa hyperlipoproteinemia" EXACT [DOID:13810] synonym: "Fredrickson type IIa lipidaemia" EXACT [DOID:13810] synonym: "hyperbetalipoproteinemia" EXACT [DOID:13810] -synonym: "hyperlipoproteinemia type II" EXACT [NCIT:C34704] -synonym: "type II hyperlipidemia" RELATED [DOID:13810, NCIT:C34704] +synonym: "hyperlipoproteinemia type II" EXACT [] +synonym: "type II hyperlipidemia" RELATED [] xref: DOID:13810 {source="MONDO:equivalentTo", source="EFO:0004911"} xref: EFO:0004911 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E78.0 {source="DOID:13810"} @@ -105177,8 +105184,8 @@ subset: orphanet_rare {source="Orphanet:180226"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carcinoma, embryonal, malignant" EXACT [NCIT:C3752] -synonym: "embryonal carcinoma" EXACT [MONDO:0015862, NCIT:C3752] -synonym: "primary extragonadal embryonal carcinoma" NARROW [DOID:3308] +synonym: "embryonal carcinoma" EXACT [DOID:3308, MONDO:0015862, NCIT:C3752, Orphanet:180226] +synonym: "primary extragonadal embryonal carcinoma" NARROW [] xref: DOID:3308 {source="MONDO:equivalentTo", source="EFO:0004986"} xref: EFO:0004986 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5140 {source="MONDO:GARD"} @@ -105211,7 +105218,7 @@ synonym: "inflammation of middle ear" EXACT [] synonym: "medial otitis" EXACT [NCIT:C34885] synonym: "middle Ear Inflammation" EXACT [NCIT:C34885] synonym: "middle ear inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site, NCIT:C34885] -synonym: "otitis Media" EXACT [NCIT:C34885] +synonym: "otitis Media" EXACT [DOID:10754, icd11.foundation:1079654421, NCIT:C34885] synonym: "otitis media (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10754 {source="EFO:0004992", source="MONDO:equivalentTo"} xref: EFO:0004992 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -105265,9 +105272,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "infection by visceral leishmaniasis" EXACT [DOID:9146] -synonym: "kala-azar" EXACT [DOID:9146, NCIT:C34771] -synonym: "kala-azar susceptibility" RELATED [OMIMPS:608207] -synonym: "kala-azar, susceptibility to" RELATED [OMIMPS:608207] +synonym: "kala-azar" EXACT [DOID:9146, ICD10CM:B55.0, icd11.foundation:1646564717, NCIT:C34771] +synonym: "kala-azar susceptibility" RELATED [] +synonym: "kala-azar, susceptibility to" RELATED [] synonym: "viscus leishmaniasis" EXACT [MONDO:patterns/location] xref: DOID:9146 {source="MONDO:equivalentTo", source="EFO:0005045"} xref: EFO:0005045 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -105294,7 +105301,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Asian desert cutaneous leishmaniasis" EXACT [DOID:9111, NCIT:C34770] -synonym: "diffuse cutaneous leishmaniasis" RELATED EXCLUDE [DOID:9111] +synonym: "diffuse cutaneous leishmaniasis" RELATED EXCLUDE [] synonym: "leproid leishmaniasis" EXACT [DOID:9111] synonym: "zone of skin leishmaniasis" EXACT [MONDO:patterns/location] xref: DOID:9111 {source="EFO:0005046", source="MONDO:equivalentTo"} @@ -105319,7 +105326,7 @@ name: testicular cancer def: "A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma." [NCIT:C7251] subset: otar {source="MONDO:OTAR"} synonym: "cancer of testis" EXACT [MONDO:patterns/cancer] -synonym: "childhood neoplasm of the testis" NARROW EXCLUDE [DOID:2998] +synonym: "childhood neoplasm of the testis" NARROW EXCLUDE [] synonym: "malignant neoplasm of testis" EXACT [MONDO:patterns/cancer, NCIT:C7251] synonym: "malignant neoplasm of the testis" EXACT [NCIT:C7251] synonym: "malignant testicular neoplasm" EXACT [NCIT:C7251] @@ -105330,13 +105337,13 @@ synonym: "malignant tumor of testis" EXACT [NCIT:C7251] synonym: "malignant tumor of the testis" EXACT [NCIT:C7251] synonym: "malignant tumour of testis" EXACT OMO:0003005 [] synonym: "malignant tumour of the testis" EXACT OMO:0003005 [] -synonym: "neoplasm of testis" RELATED EXCLUDE [DOID:2998] +synonym: "neoplasm of testis" RELATED EXCLUDE [] synonym: "paediatric testicular neoplasm" RELATED OMO:0003005 [] -synonym: "pediatric testicular neoplasm" RELATED EXCLUDE [DOID:2998, NCIT:C5053] -synonym: "testicular tumor" BROAD [DOID:2998, NCIT:C3404] +synonym: "pediatric testicular neoplasm" RELATED EXCLUDE [] +synonym: "testicular tumor" BROAD [] synonym: "testicular tumour" BROAD OMO:0003005 [] synonym: "testis cancer" EXACT [DOID:2998, MONDO:patterns/location] -synonym: "testis neoplasm" BROAD [DOID:2998] +synonym: "testis neoplasm" BROAD [] xref: DOID:2998 {source="MONDO:equivalentTo", source="EFO:0005088"} xref: EFO:0005088 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C62 {source="DOID:2998"} @@ -105401,7 +105408,7 @@ id: MONDO:0005451 name: eating disorder def: "A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake." [NCIT:C89332] subset: otar {source="MONDO:OTAR"} -synonym: "eating disorder" EXACT [NCIT:C89332] +synonym: "eating disorder" EXACT [DOID:8670, NCIT:C89332] synonym: "feeding and eating disorder" EXACT [ISBN-13:978-1-259-64403-0] xref: DOID:8670 {source="EFO:0005203", source="MONDO:equivalentTo"} xref: EFO:0005203 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -105425,8 +105432,8 @@ id: MONDO:0005452 name: bulimia nervosa def: "A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image." [NCIT:C34440] subset: otar {source="MONDO:OTAR"} -synonym: "bulimia" EXACT [NCIT:C34440] -synonym: "hyperorexia nervosa" EXACT [DOID:12129] +synonym: "bulimia" EXACT [icd11.foundation:509381842, NCIT:C34440] +synonym: "hyperorexia nervosa" EXACT [DOID:12129, ICD10CM:F50.2] xref: DOID:12129 {source="EFO:0005204", source="MONDO:equivalentTo"} xref: EFO:0005204 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F50.2 {source="DOID:12129", source="MONDO:equivalentTo"} @@ -105461,7 +105468,7 @@ synonym: "heart abnormalities" RELATED [MESH:D006330] synonym: "heart abnormality" RELATED [MESH:D006330] synonym: "heart defect" EXACT [DOID:1682] synonym: "heart defect, congenital" RELATED [MESH:D006330] -synonym: "heart malformation" BROAD [DOID:1682, NCIT:C34666] +synonym: "heart malformation" BROAD [] synonym: "heart, malformation Of" RELATED [MESH:D006330] synonym: "heart-congenital defect" RELATED [DOID:1682] xref: DOID:1682 {source="EFO:0005207", source="MONDO:equivalentTo"} @@ -105501,7 +105508,7 @@ synonym: "lung neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of lung" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C5670] synonym: "neuroendocrine neoplasm of the lung" EXACT [NCIT:C5670] synonym: "pulmonary neuroendocrine neoplasm" EXACT [NCIT:C5670] -synonym: "pulmonary neuroendocrine tumor" RELATED [DOID:5410] +synonym: "pulmonary neuroendocrine tumor" RELATED [] synonym: "pulmonary neuroendocrine tumour" RELATED OMO:0003005 [] xref: DOID:5410 {source="MONDO:equivalentTo", source="EFO:0005220"} xref: EFO:0005220 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -105553,8 +105560,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Africam sleeping sickness" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "African sleeping sickness" EXACT [DOID:10112] -synonym: "African trypanosomiasis" EXACT [DOID:10112, MTH:NOCODE] -synonym: "sleeping sickness" EXACT [DOID:10112, Orphanet:3385] +synonym: "African trypanosomiasis" EXACT [DOID:10112, MTH:NOCODE, NCIT:C84541, Orphanet:3385] +synonym: "sleeping sickness" EXACT [DOID:10112, NCIT:C84541, Orphanet:3385] xref: DOID:10112 {source="EFO:0005225", source="MONDO:equivalentTo"} xref: EFO:0005225 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7826 {source="MONDO:GARD"} @@ -105609,19 +105616,19 @@ id: MONDO:0005461 name: endometrium adenocarcinoma def: "An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma." [NCIT:C7359] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma of endometrium" EXACT [NCIT:C7359] +synonym: "adenocarcinoma of endometrium" EXACT [DOID:2870, NCIT:C7359] synonym: "adenocarcinoma of the endometrium" EXACT [DOID:2870, NCIT:C7359] synonym: "adenocarcinoma of uterus" EXACT [DOID:2870] synonym: "adenocarcinoma, endometrial, malignant" EXACT [NCIT:C7359] synonym: "endometrial adenoacanthoma" EXACT [DOID:2870] -synonym: "endometrial adenocarcinoma" EXACT [NCIT:C7359] -synonym: "endometrial endometrioid adenocarcinoma" RELATED [DOID:2870] -synonym: "endometrial endometrioid adenocarcinoma with squamous differentiation" EXACT [DOID:2870, NCIT:C8027] +synonym: "endometrial adenocarcinoma" EXACT [DOID:2870, NCIT:C7359] +synonym: "endometrial endometrioid adenocarcinoma" RELATED [] +synonym: "endometrial endometrioid adenocarcinoma with squamous differentiation" EXACT [DOID:2870] synonym: "endometrioid adenoma or carcinoma" EXACT [DOID:2870] -synonym: "endometrioid adenoma or carcinoma NOS (morphologic abnormality)" EXACT [DOID:2870] +synonym: "endometrioid adenoma or carcinoma NOS (morphologic abnormality)" EXACT [] synonym: "endometrioid adenomas and carcinomas" EXACT [DOID:2870] -synonym: "endometrioid adenomas and carcinomas (morphologic abnormality)" EXACT [DOID:2870] -synonym: "endometrioid carcinoma of endometrium" BROAD [DOID:2870, NCIT:C6287] +synonym: "endometrioid adenomas and carcinomas (morphologic abnormality)" EXACT [] +synonym: "endometrioid carcinoma of endometrium" BROAD [] synonym: "endometrium adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:2870 {source="MONDO:equivalentTo", source="EFO:0005232"} xref: EFO:0005232 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -105647,9 +105654,9 @@ def: "A malignant neoplasm that originates in the neuroectoderm. The neuroectode comment: Editor note: TODO check relationship to neuroepithelioma subset: otar {source="MONDO:OTAR"} synonym: "neuroectodermal neoplasm" EXACT [NCIT:C3716] -synonym: "neuroectodermal tumor" EXACT [MONDO:0002084, NCIT:C3716] +synonym: "neuroectodermal tumor" EXACT [DOID:171, MONDO:0002084, NCIT:C3716] synonym: "neuroectodermal tumour" EXACT OMO:0003005 [] -synonym: "neuroepithelioma" RELATED [NCIT:C3716] +synonym: "neuroepithelioma" RELATED [] synonym: "PNET" EXACT ABBREVIATION [NCIT:C3716] synonym: "primitive neuroectodermal neoplasm" EXACT [DOID:171, NCIT:C3716] synonym: "primitive neuroectodermal tumor" EXACT [NCIT:C3716] @@ -105720,7 +105727,7 @@ id: MONDO:0005466 name: hypersomnia def: "A sleep disorder characterized by excessive sleepiness." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "hypersomnia" EXACT [MONDO:ambiguous] +synonym: "hypersomnia" EXACT [MONDO:ambiguous, NCIT:C78346] synonym: "hypersomnia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:0005246 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0100786 {source="MONDO:otherHierarchy"} @@ -105770,7 +105777,7 @@ id: MONDO:0005469 name: orthostatic hypotension def: "Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "orthostatic hypotension" EXACT [MONDO:ambiguous] +synonym: "orthostatic hypotension" EXACT [icd11.foundation:56009591, MONDO:ambiguous] synonym: "orthostatic hypotension (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:0005252 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0001278 {source="MONDO:otherHierarchy"} @@ -105921,13 +105928,13 @@ id: MONDO:0005480 name: contact dermatitis def: "An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen." [NCIT:C26743] subset: otar {source="MONDO:OTAR"} -synonym: "contact dermatitis" EXACT [NCIT:C26743] -synonym: "contact dermatitis NOS" RELATED EXCLUDE [DOID:2773] +synonym: "contact dermatitis" EXACT [DOID:2773, NCIT:C26743] +synonym: "contact dermatitis NOS" RELATED EXCLUDE [] synonym: "contact dermatitis/eczema" EXACT [DOID:2773] -synonym: "contact eczema" NARROW [DOID:2773] +synonym: "contact eczema" NARROW [] synonym: "dermatitis venenata" EXACT [DOID:2773] synonym: "dermatitis, venenata" EXACT [DOID:2773] -synonym: "dermatitis, venenata NOS" RELATED EXCLUDE [DOID:2773] +synonym: "dermatitis, venenata NOS" RELATED EXCLUDE [] xref: DOID:2773 {source="MONDO:equivalentTo", source="EFO:0005319"} xref: EFO:0005319 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:L25 {source="DOID:2773"} @@ -105996,10 +106003,10 @@ synonym: "adenoma of large bowel" EXACT [NCIT:C5673] synonym: "adenoma of large intestine" EXACT [NCIT:C5673] synonym: "adenoma of the large bowel" EXACT [NCIT:C5673] synonym: "adenoma of the large intestine" EXACT [NCIT:C5673] -synonym: "colorectal adenoma" EXACT [NCIT:C5673] +synonym: "colorectal adenoma" EXACT [DOID:0050860, NCIT:C5673] synonym: "colorectum adenoma" EXACT [MONDO:patterns/location] synonym: "large bowel adenoma" EXACT [NCIT:C5673] -synonym: "large intestine adenoma" EXACT [NCIT:C5673] +synonym: "large intestine adenoma" EXACT [DOID:0050914, NCIT:C5673] xref: DOID:0050860 {source="MONDO:equivalentTo", source="EFO:0005406", source="MONDO:preferredExternal"} xref: DOID:0050914 {source="MONDO:equivalentTo"} xref: EFO:0005406 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -106018,9 +106025,9 @@ id: MONDO:0005485 name: psychotic disorder def: "An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities." [Wikipedia:Psychosis] subset: otar {source="MONDO:OTAR"} -synonym: "mental or behavioral disorder" BROAD [DOID:2468] +synonym: "mental or behavioral disorder" BROAD [] synonym: "mental or behavioural disorder" BROAD OMO:0003005 [] -synonym: "psychosis" EXACT [MONDO:ambiguous] +synonym: "psychosis" EXACT [MONDO:ambiguous, NCIT:C78576] xref: DOID:2468 {source="MONDO:equivalentTo"} xref: EFO:0005407 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0000709 {source="MONDO:otherHierarchy"} @@ -106045,10 +106052,10 @@ subset: orphanet_rare {source="Orphanet:99798"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial tooth agenesis" EXACT [DOID:0050591] -synonym: "hypodontia" EXACT [DOID:0050591, Orphanet:2227] -synonym: "oligodontia" EXACT [DOID:0050591] +synonym: "hypodontia" EXACT [DOID:0050591] +synonym: "oligodontia" EXACT [DOID:0050591, icd11.foundation:1559717619, Orphanet:99798] synonym: "selective tooth agenesis" EXACT [DOID:0050591, Orphanet:99798] -synonym: "tooth agenesis, selective" RELATED [OMIMPS:106600] +synonym: "tooth agenesis, selective" RELATED [] xref: DOID:0050591 {source="EFO:0005410", source="MONDO:equivalentTo"} xref: EFO:0005410 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:16908 {source="MONDO:GARD"} @@ -106112,7 +106119,7 @@ id: MONDO:0005489 name: dyslexia def: "A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "dyslexia" EXACT [MONDO:ambiguous] +synonym: "dyslexia" EXACT [DOID:4428, icd11.foundation:1843588689, MONDO:ambiguous, NCIT:C96410] synonym: "dyslexia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4428 {source="EFO:0005424", source="MONDO:equivalentTo"} xref: EFO:0005424 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -106170,7 +106177,7 @@ name: urticaria def: "A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress." [MESH:D014581] subset: otar {source="MONDO:OTAR"} synonym: "hives" EXACT [MESH:D014581, NCIT:C3432] -synonym: "urticaria" EXACT [NCIT:C3432] +synonym: "urticaria" EXACT [DOID:1555, ICD10CM:L50, NCIT:C3432] synonym: "urticaria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Urticarias" RELATED [MESH:D014581] xref: DOID:1555 {source="EFO:0005531", source="MONDO:equivalentTo"} @@ -106217,7 +106224,7 @@ def: "An invasive breast carcinoma which is negative for expression of estrogen subset: otar {source="MONDO:OTAR"} synonym: "triple-negative breast cancer" EXACT [NCIT:C71732] synonym: "triple-negative breast carcinoma" EXACT [NCIT:C71732] -synonym: "triple-receptor negative breast cancer" EXACT [MONDO:0000619] +synonym: "triple-receptor negative breast cancer" EXACT [DOID:0060081, MONDO:0000619] xref: DOID:0060081 {source="MONDO:equivalentTo"} xref: EFO:0005537 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1649548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -106238,7 +106245,7 @@ id: MONDO:0005495 name: adrenal gland disorder def: "A disease involving the adrenal gland." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "adrenal gland disease" EXACT [MONDO:patterns/location, NCIT:C26690] +synonym: "adrenal gland disease" EXACT [DOID:9553, MONDO:patterns/location, NCIT:C26690] synonym: "adrenal gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "adrenal gland diseases" EXACT [NCIT:C26690] synonym: "adrenal gland disorder" EXACT [NCIT:C26690] @@ -106270,9 +106277,9 @@ def: "A carcinoma that arises from epithelial cells of the bile duct" [https://o subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bile duct cancer" BROAD [NCIT:C27814] +synonym: "bile duct cancer" BROAD [] synonym: "bile duct cancer (including cholangiocarcinoma)" EXACT [NCIT:C27814] -synonym: "bile duct carcinoma" EXACT [MONDO:patterns/location, NCIT:C27814] +synonym: "bile duct carcinoma" EXACT [DOID:4897, MONDO:patterns/location, NCIT:C27814] synonym: "carcinoma of bile duct" EXACT [MONDO:patterns/carcinoma] xref: DOID:4897 {source="MONDO:equivalentTo", source="EFO:0005540"} xref: EFO:0005540 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -106292,7 +106299,7 @@ id: MONDO:0005497 name: bone development disease def: "A disease involving the bone development." [MONDO:patterns/location_top] subset: otar {source="MONDO:OTAR"} -synonym: "bone development disease" EXACT [MONDO:patterns/location] +synonym: "bone development disease" EXACT [DOID:0080006, MONDO:patterns/location] synonym: "bone development disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of bone development" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of bone development" EXACT [] @@ -106316,14 +106323,14 @@ subset: ordo_disorder {source="Orphanet:1267"} subset: orphanet_rare {source="Orphanet:1267"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "botulism" EXACT [NCIT:C84599] -synonym: "botulism poisoning" EXACT [DOID:11976] -synonym: "food poisoning due to Clostridium botulinum" NARROW [DOID:11976] -synonym: "foodborne botulism" NARROW [DOID:11976] +synonym: "botulism" EXACT [DOID:11976, icd11.foundation:78422942, NCIT:C84599, Orphanet:1267] +synonym: "botulism poisoning" EXACT [DOID:11976, icd11.foundation:78422942] +synonym: "food poisoning due to Clostridium botulinum" NARROW [] +synonym: "foodborne botulism" NARROW [] synonym: "foodborne botulism (subtype)" RELATED [GARD:0000943] synonym: "infant botulism (subtype)" RELATED [GARD:0000943] synonym: "infection due to Clostridium botulinum" EXACT [DOID:11976] -synonym: "intoxication with Clostridium botulinum toxin" NARROW [DOID:11976] +synonym: "intoxication with Clostridium botulinum toxin" NARROW [] synonym: "wound botulism (subtype)" NARROW [GARD:0000943] xref: CSP:5000-0060 {source="DOID:11976"} xref: DOID:11976 {source="EFO:0005542", source="MONDO:equivalentTo"} @@ -106379,43 +106386,43 @@ def: "A congenital disorder of glycosylation involve disrupted synthesis of the subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALG1-CDG" RELATED [DOID:0050570] -synonym: "ALG1-CDG (CDG-1k)" RELATED [DOID:0050570] -synonym: "ALG11-CDG" RELATED [DOID:0050570] -synonym: "ALG11-CDG (CDG-1p)" RELATED [DOID:0050570] -synonym: "ALG12-CDG" RELATED [DOID:0050570] -synonym: "ALG12-CDG (CDG-1g)" RELATED [DOID:0050570] -synonym: "ALG2-CDG" RELATED [DOID:0050570] -synonym: "ALG2-CDG (CDG-1i)" RELATED [DOID:0050570] -synonym: "ALG3-CDG" RELATED [DOID:0050570] -synonym: "ALG3-CDG (CDG-1d)" RELATED [DOID:0050570] -synonym: "ALG6-CDG" RELATED [DOID:0050570] -synonym: "ALG6-CDG (CDG-1c)" RELATED [DOID:0050570] -synonym: "ALG8-CDG" RELATED [DOID:0050570] -synonym: "ALG8-CDG (CDG-1h)" RELATED [DOID:0050570] -synonym: "ALG9-CDG" RELATED [DOID:0050570] -synonym: "ALG9-CDG (CDG-1l)" RELATED [DOID:0050570] +synonym: "ALG1-CDG" RELATED [] +synonym: "ALG1-CDG (CDG-1k)" RELATED [] +synonym: "ALG11-CDG" RELATED [] +synonym: "ALG11-CDG (CDG-1p)" RELATED [] +synonym: "ALG12-CDG" RELATED [] +synonym: "ALG12-CDG (CDG-1g)" RELATED [] +synonym: "ALG2-CDG" RELATED [] +synonym: "ALG2-CDG (CDG-1i)" RELATED [] +synonym: "ALG3-CDG" RELATED [] +synonym: "ALG3-CDG (CDG-1d)" RELATED [] +synonym: "ALG6-CDG" RELATED [] +synonym: "ALG6-CDG (CDG-1c)" RELATED [] +synonym: "ALG8-CDG" RELATED [] +synonym: "ALG8-CDG (CDG-1h)" RELATED [] +synonym: "ALG9-CDG" RELATED [] +synonym: "ALG9-CDG (CDG-1l)" RELATED [] synonym: "congenital disorders of glycosylation, type I" EXACT [OMIMPS:212065] -synonym: "DOLK-CDG" RELATED [DOID:0050570] -synonym: "DOLK-CDG (CDG-1m)" RELATED [DOID:0050570] -synonym: "DPAGT1-CDG" RELATED [DOID:0050570] -synonym: "DPAGT1-CDG (CDG-1j)" RELATED [DOID:0050570] -synonym: "DPM1-CDG" RELATED [DOID:0050570] -synonym: "DPM1-CDG (CDG-1e)" RELATED [DOID:0050570] -synonym: "DPM2-CDG" RELATED [DOID:0050570] -synonym: "DPM2-CDG (CDG-1u)" RELATED [DOID:0050570] -synonym: "DPM3-CDG" RELATED [DOID:0050570] -synonym: "DPM3-CDG (CDG-1o)" RELATED [DOID:0050570] -synonym: "MPDU1-CDG" RELATED [DOID:0050570] -synonym: "MPDU1-CDG (CDG-1f)" RELATED [DOID:0050570] -synonym: "MPI-CDG" RELATED [DOID:0050570] -synonym: "MPI-CDG (CDG-1b)" RELATED [DOID:0050570] -synonym: "PMM2-CDG" RELATED [DOID:0050570] -synonym: "PMM2-CDG (CDG-1a)" RELATED [DOID:0050570] -synonym: "RFT1-CDG" RELATED [DOID:0050570] -synonym: "RFT1-CDG (CDG-1n)" RELATED [DOID:0050570] -synonym: "SRD5A3-CDG" RELATED [DOID:0050570] -synonym: "SRD5A3-CDG (CDG-1q)" RELATED [DOID:0050570] +synonym: "DOLK-CDG" RELATED [] +synonym: "DOLK-CDG (CDG-1m)" RELATED [] +synonym: "DPAGT1-CDG" RELATED [] +synonym: "DPAGT1-CDG (CDG-1j)" RELATED [] +synonym: "DPM1-CDG" RELATED [] +synonym: "DPM1-CDG (CDG-1e)" RELATED [] +synonym: "DPM2-CDG" RELATED [] +synonym: "DPM2-CDG (CDG-1u)" RELATED [] +synonym: "DPM3-CDG" RELATED [] +synonym: "DPM3-CDG (CDG-1o)" RELATED [] +synonym: "MPDU1-CDG" RELATED [] +synonym: "MPDU1-CDG (CDG-1f)" RELATED [] +synonym: "MPI-CDG" RELATED [] +synonym: "MPI-CDG (CDG-1b)" RELATED [] +synonym: "PMM2-CDG" RELATED [] +synonym: "PMM2-CDG (CDG-1a)" RELATED [] +synonym: "RFT1-CDG" RELATED [] +synonym: "RFT1-CDG (CDG-1n)" RELATED [] +synonym: "SRD5A3-CDG" RELATED [] +synonym: "SRD5A3-CDG (CDG-1q)" RELATED [] xref: DOID:0050570 {source="EFO:0005545", source="MONDO:equivalentTo"} xref: EFO:0005545 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1684618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -106432,14 +106439,14 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "B4GALT1-CDG" RELATED [DOID:0050571] -synonym: "B4GALT1-CDG (CDG-2d)" RELATED [DOID:0050571] -synonym: "congenital disorder of glycosylation type II" EXACT CLINGEN_LABEL [] +synonym: "B4GALT1-CDG" RELATED [] +synonym: "B4GALT1-CDG (CDG-2d)" RELATED [] +synonym: "congenital disorder of glycosylation type II" EXACT CLINGEN_LABEL [DOID:0050571] synonym: "congenital disorders of glycosylation, type II" EXACT [OMIMPS:212066] -synonym: "MGAT2-CDG" RELATED [DOID:0050571] -synonym: "MGAT2-CDG (CDG-2a)" RELATED [DOID:0050571] -synonym: "MOGS-CDG" RELATED [DOID:0050571] -synonym: "MOGS-CDG (CDG-2b)" RELATED [DOID:0050571] +synonym: "MGAT2-CDG" RELATED [] +synonym: "MGAT2-CDG (CDG-2a)" RELATED [] +synonym: "MOGS-CDG" RELATED [] +synonym: "MOGS-CDG (CDG-2b)" RELATED [] xref: DOID:0050571 {source="EFO:0005546", source="MONDO:equivalentTo"} xref: EFO:0005546 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1812737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -106465,7 +106472,7 @@ synonym: "breakbone fever" EXACT [DOID:12205] synonym: "classic dengue" EXACT [DOID:12205] synonym: "classical dengue" RELATED [DOID:12205] synonym: "Dengue" EXACT [NCIT:C34528] -synonym: "Dengue fever" EXACT [DOID:12205, NCIT:C34528] +synonym: "Dengue fever" EXACT [DOID:12205, NCIT:C34528, Orphanet:99828] synonym: "Dengue virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Dengue virus disease or disorder" EXACT [] synonym: "Dengue virus infection" EXACT [Orphanet:99828] @@ -106504,7 +106511,7 @@ id: MONDO:0005503 name: developmental disorder of mental health def: "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development." [EFO:0005548] subset: otar {source="MONDO:OTAR"} -synonym: "developmental disorder of mental health" EXACT CLINGEN_LABEL [] +synonym: "developmental disorder of mental health" EXACT CLINGEN_LABEL [DOID:0060037] synonym: "developmental mental disorder" RELATED [] xref: DOID:0060037 {source="EFO:0005548", source="MONDO:equivalentTo"} xref: EFO:0005548 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -106564,10 +106571,10 @@ subset: ordo_disorder {source="Orphanet:251946"} subset: orphanet_rare {source="Orphanet:251946"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DNET" EXACT ABBREVIATION [Orphanet:251946] +synonym: "DNET" EXACT ABBREVIATION [NCIT:C9505, Orphanet:251946] synonym: "DNT" EXACT ABBREVIATION [NCIT:C9505, ONCOTREE:DNT] synonym: "dysembryoplastic neuroepithelial neoplasm" EXACT [DOID:2679, NCIT:C9505] -synonym: "dysembryoplastic neuroepithelial tumor (morphologic abnormality)" EXACT [DOID:2679] +synonym: "dysembryoplastic neuroepithelial tumor (morphologic abnormality)" EXACT [] synonym: "dysembryoplastic neuroepithelial tumour (morphologic abnormality)" EXACT OMO:0003005 [] xref: DOID:2679 {source="MONDO:equivalentTo", source="EFO:0005551"} xref: EFO:0005551 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -106592,7 +106599,7 @@ id: MONDO:0005506 name: eccrine sweat gland cancer def: "An cancer with eccrine differentiation arising from the sweat glands.B" [EFO:0005553] synonym: "cancer of eccrine sweat gland" EXACT [MONDO:patterns/cancer] -synonym: "eccrine sweat gland cancer" EXACT [MONDO:patterns/location] +synonym: "eccrine sweat gland cancer" EXACT [DOID:4921, MONDO:patterns/location] synonym: "malignant eccrine neoplasm" EXACT [NCIT:C5559] synonym: "malignant eccrine neoplasm of skin" EXACT [NCIT:C5559] synonym: "malignant eccrine neoplasm of the skin" EXACT [NCIT:C5559] @@ -106627,7 +106634,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cancer of gingiva" EXACT [MONDO:patterns/cancer] synonym: "gingiva cancer" EXACT [MONDO:patterns/location] -synonym: "gum cancer" RELATED [DOID:8602] +synonym: "gum cancer" RELATED [] synonym: "malignant gingiva neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant gingival neoplasm" EXACT [NCIT:C9317] synonym: "malignant gingival tumor" EXACT [DOID:8602, NCIT:C9317] @@ -106640,11 +106647,11 @@ synonym: "malignant neoplasm of gum" EXACT [DOID:8602, ICD9CM:143, NCIT:C9317] synonym: "malignant neoplasm of other sites of gum" EXACT [DOID:8602] synonym: "malignant neoplasm of the gingiva" EXACT [NCIT:C9317] synonym: "malignant neoplasm of the gum" EXACT [NCIT:C9317] -synonym: "malignant tumor of gingiva" EXACT [DOID:8602, NCIT:C9317] -synonym: "malignant tumor of gum" EXACT [NCIT:C9317] +synonym: "malignant tumor of gingiva" EXACT [NCIT:C9317] +synonym: "malignant tumor of gum" EXACT [DOID:8602, NCIT:C9317] synonym: "malignant tumor of the gingiva" EXACT [NCIT:C9317] synonym: "malignant tumor of the gum" EXACT [NCIT:C9317] -synonym: "malignant tumour of gingiva" EXACT OMO:0003005 [] +synonym: "malignant tumour of gingiva" EXACT OMO:0003005 [DOID:8602] synonym: "malignant tumour of gum" EXACT OMO:0003005 [] synonym: "malignant tumour of the gingiva" EXACT OMO:0003005 [] synonym: "malignant tumour of the gum" EXACT OMO:0003005 [] @@ -106679,22 +106686,22 @@ subset: ordo_disorder {source="Orphanet:321"} subset: orphanet_rare {source="Orphanet:321"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bessel-Hagen disease" EXACT [Orphanet:321] -synonym: "exostoses, multiple" EXACT [] +synonym: "Bessel-Hagen disease" EXACT [icd11.foundation:1578364807, Orphanet:321] +synonym: "exostoses, multiple" EXACT [OMIMPS:133700] synonym: "EXT" RELATED ABBREVIATION [] synonym: "hereditary multiple exostoses" RELATED [GARD:0007035] -synonym: "hereditary multiple exostoses 1" NARROW [DOID:206] -synonym: "hereditary multiple exostoses 2" NARROW [DOID:206] -synonym: "hereditary multiple exostoses 3" NARROW [DOID:206] +synonym: "hereditary multiple exostoses 1" NARROW [] +synonym: "hereditary multiple exostoses 2" NARROW [] +synonym: "hereditary multiple exostoses 3" NARROW [] synonym: "hereditary multiple exostosis" RELATED [GARD:0007035] synonym: "HMO" RELATED ABBREVIATION [GARD:0007035] -synonym: "multiple cartilaginous exostoses" EXACT [Orphanet:321] +synonym: "multiple cartilaginous exostoses" EXACT [icd11.foundation:1578364807, Orphanet:321] synonym: "multiple congenital exostosis" EXACT [DOID:206] synonym: "multiple exostoses" RELATED [GARD:0007035] synonym: "multiple exostosis syndromes" EXACT [DOID:206] synonym: "multiple ostechondromas" EXACT [DOID:206] synonym: "osteochondromatosis syndrome" EXACT [DOID:206] -synonym: "osteochondromatosis syndrome (disorder) [ambiguous]" EXACT [DOID:206] +synonym: "osteochondromatosis syndrome (disorder) [ambiguous]" EXACT [] xref: DOID:206 {source="MONDO:equivalentTo", source="EFO:0005560"} xref: GARD:7035 {source="MONDO:GARD"} xref: ICD10CM:Q78.6 {source="Orphanet:321/specific", source="DOID:206", source="Orphanet:321/e", source="Orphanet:321"} @@ -106729,7 +106736,7 @@ id: MONDO:0005509 name: histiocytoma def: "A mesenchymal tumor composed of fibroblastic and histiocytic cells." [NCIT:C35765] subset: otar {source="MONDO:OTAR"} -synonym: "histiocytoma" EXACT [NCIT:C35765] +synonym: "histiocytoma" EXACT [DOID:4231, icd11.foundation:1211753554, NCIT:C35765] xref: DOID:4231 {source="MONDO:equivalentTo", source="EFO:0005561"} xref: EFO:0005561 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1211753554 {source="MONDO:equivalentTo"} @@ -106795,7 +106802,7 @@ synonym: "diffuse malignant peritoneal mesothelioma" EXACT [Orphanet:168811] synonym: "malignant mesothelioma (disease) of peritoneum" EXACT [] synonym: "malignant mesothelioma of peritoneum" EXACT [DOID:1788] synonym: "malignant peritoneal mesothelioma, advanced" EXACT [NCIT:C8704] -synonym: "peritoneal mesothelioma" RELATED [DOID:1788] +synonym: "peritoneal mesothelioma" RELATED [] synonym: "peritoneal mesothelioma (disease), malignant" EXACT [MONDO:patterns/malignant] synonym: "peritoneum malignant mesothelioma (disease)" EXACT [MONDO:patterns/location] synonym: "primary malignant peritoneal mesothelioma" EXACT [Orphanet:168811] @@ -106854,21 +106861,21 @@ synonym: "cancer of oral cavity" EXACT [MONDO:patterns/cancer] synonym: "malignant mouth neoplasm" EXACT [NCIT:C9314] synonym: "malignant mouth tumor" EXACT [NCIT:C9314] synonym: "malignant mouth tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of anterior portion of floor of mouth" NARROW [DOID:8618] -synonym: "malignant neoplasm of floor of mouth" NARROW [DOID:8618, MTH:NOCODE] -synonym: "malignant neoplasm of lateral floor of mouth" NARROW [DOID:8618, MTH:U001372] -synonym: "malignant neoplasm of lateral portion of floor of mouth" NARROW [DOID:8618] +synonym: "malignant neoplasm of anterior portion of floor of mouth" NARROW [] +synonym: "malignant neoplasm of floor of mouth" NARROW [MTH:NOCODE] +synonym: "malignant neoplasm of lateral floor of mouth" NARROW [MTH:U001372] +synonym: "malignant neoplasm of lateral portion of floor of mouth" NARROW [] synonym: "malignant neoplasm of mouth" EXACT [NCIT:C9314] synonym: "malignant neoplasm of oral cavity" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the mouth" EXACT [NCIT:C9314] synonym: "malignant oral cavity neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9314] synonym: "malignant oral cavity tumor" EXACT [NCIT:C9314] synonym: "malignant oral cavity tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of anterior floor of mouth" EXACT [DOID:8618] -synonym: "malignant tumor of lateral floor of mouth" EXACT [DOID:8618] +synonym: "malignant tumor of anterior floor of mouth" EXACT [] +synonym: "malignant tumor of lateral floor of mouth" EXACT [] synonym: "malignant tumor of mouth" EXACT [NCIT:C9314] synonym: "malignant tumor of oral cavity" EXACT [] -synonym: "malignant tumor of the floor of the mouth" NARROW [DOID:8618, NCIT:C9318] +synonym: "malignant tumor of the floor of the mouth" NARROW [] synonym: "malignant tumor of the mouth" EXACT [NCIT:C9314] synonym: "malignant tumour of anterior floor of mouth" EXACT OMO:0003005 [] synonym: "malignant tumour of lateral floor of mouth" EXACT OMO:0003005 [] @@ -106877,7 +106884,7 @@ synonym: "malignant tumour of oral cavity" EXACT OMO:0003005 [] synonym: "malignant tumour of the floor of the mouth" NARROW OMO:0003005 [] synonym: "malignant tumour of the mouth" EXACT OMO:0003005 [] synonym: "mouth cancer" RELATED [] -synonym: "oral cavity cancer" EXACT [MONDO:patterns/location] +synonym: "oral cavity cancer" EXACT [DOID:8618, MONDO:patterns/location] xref: DOID:8618 {source="MONDO:equivalentTo", source="EFO:0005570"} xref: EFO:0005570 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C04 {source="DOID:8618"} @@ -106912,13 +106919,13 @@ id: MONDO:0005516 name: osteochondrodysplasia def: "A term referring to disorders characterized by abnormalities in the development of bones and cartilage." [NCIT:C84978] subset: otar {source="MONDO:OTAR"} -synonym: "cartilage development disorder" NARROW [DOID:2256, NCIT:C34466] -synonym: "chondrodystrophy" RELATED EXCLUDE [DOID:2256] -synonym: "congenital anomaly of cartilage" NARROW [DOID:2256] +synonym: "cartilage development disorder" NARROW [] +synonym: "chondrodystrophy" RELATED EXCLUDE [] +synonym: "congenital anomaly of cartilage" NARROW [] synonym: "congenital skeletal dysplasia" EXACT [NCIT:C84978] -synonym: "osteochondrodysplasia" EXACT [NCIT:C84978] +synonym: "osteochondrodysplasia" EXACT [DOID:2256, NCIT:C84978] synonym: "osteochondrodysplasia syndrome" EXACT [DOID:2256] -synonym: "skeletal dysplasia" RELATED [NCIT:C84978] +synonym: "skeletal dysplasia" RELATED [] xref: DOID:2256 {source="MONDO:equivalentTo", source="EFO:0005571"} xref: EFO:0005571 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:Q78.9 {source="DOID:2256"} @@ -106960,8 +106967,8 @@ synonym: "malignant tumour of pharynx" EXACT OMO:0003005 [] synonym: "malignant tumour of the pharynx" EXACT OMO:0003005 [] synonym: "pharyngeal cancer" RELATED [DOID:0060119] synonym: "pharyngeal neoplasm" EXACT [DOID:0060119] -synonym: "pharynx cancer" EXACT [MONDO:patterns/location] -synonym: "pharynx neoplasm" BROAD [DOID:0060119] +synonym: "pharynx cancer" EXACT [DOID:0060119, MONDO:patterns/location] +synonym: "pharynx neoplasm" BROAD [] xref: DOID:0060119 {source="EFO:0005577", source="MONDO:equivalentTo"} xref: EFO:0005577 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:57554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -106986,7 +106993,7 @@ def: "A condition consisting of possessing the internal reproductive organs of o subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "indeterminate sex and pseudohermaphroditism" RELATED [DOID:3765] +synonym: "indeterminate sex and pseudohermaphroditism" RELATED [] xref: DOID:3765 {source="EFO:0005579", source="MONDO:equivalentTo"} xref: EFO:0005579 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:Q56 {source="MONDO:relatedTo", source="DOID:3765"} @@ -107016,13 +107023,13 @@ synonym: "carcinoma of renal pelvis" EXACT [MONDO:patterns/carcinoma, NCIT:C6142 synonym: "carcinoma of the kidney pelvis" EXACT [NCIT:C6142] synonym: "carcinoma of the renal pelvis" EXACT [NCIT:C6142] synonym: "kidney pelvis carcinoma" EXACT [NCIT:C6142] -synonym: "kidney renal pelvis cancer" EXACT [NCIT:C6142] -synonym: "malignant neoplasm of renal pelvis" BROAD [DOID:4919, ICD9CM:189.1, MONDO:patterns/cancer] -synonym: "malignant renal pelvis neoplasm" BROAD [DOID:4919, MONDO:patterns/cancer, NCIT:C7525] -synonym: "malignant tumor of renal pelvis" BROAD EXCLUDE [DOID:4919] +synonym: "kidney renal pelvis cancer" EXACT [] +synonym: "malignant neoplasm of renal pelvis" BROAD [ICD9CM:189.1, MONDO:patterns/cancer] +synonym: "malignant renal pelvis neoplasm" BROAD [MONDO:patterns/cancer] +synonym: "malignant tumor of renal pelvis" BROAD EXCLUDE [] synonym: "malignant tumour of renal pelvis" BROAD OMO:0003005 [] -synonym: "renal pelvis cancer" BROAD [DOID:4919, MONDO:patterns/location] -synonym: "renal pelvis carcinoma" EXACT [NCIT:C6142] +synonym: "renal pelvis cancer" BROAD [MONDO:patterns/location] +synonym: "renal pelvis carcinoma" EXACT [DOID:4919, NCIT:C6142] xref: DOID:4919 {source="MONDO:equivalentTo", source="EFO:0005582"} xref: EFO:0005582 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C65 {source="DOID:4919", source="MONDO:equivalentTo"} @@ -107049,15 +107056,15 @@ subset: gard_rare {source="GARD:5700", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "active rickets" RELATED [DOID:10609] +synonym: "active rickets" RELATED [] synonym: "hypovitaminosis D" RELATED [GARD:0005700] synonym: "nutritional rickets" RELATED [GARD:0005700] -synonym: "rachitis" EXACT [NCIT:C26878] -synonym: "rickets" EXACT [MONDO:ambiguous] +synonym: "rachitis" EXACT [] +synonym: "rickets" EXACT [DOID:10609, MONDO:ambiguous, NCIT:C26878] synonym: "rickets (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "vitamin D deficiency disease" RELATED [GARD:0005700] -synonym: "vitamin D hydroxylation-deficient rickets" EXACT [DOID:10609] -synonym: "vitamin D-dependent rickets" RELATED EXCLUDE [DOID:10609] +synonym: "vitamin D hydroxylation-deficient rickets" EXACT [] +synonym: "vitamin D-dependent rickets" RELATED EXCLUDE [] synonym: "vitamin-D deficiency rickets" RELATED [GARD:0005700] xref: DOID:10609 {source="MONDO:equivalentTo", source="EFO:0005583"} xref: EFO:0005583 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -107092,19 +107099,19 @@ def: "A carcinoma that arises from epithelial cells of the small intestine" [htt subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of small bowel" BROAD [NCIT:C7724] -synonym: "cancer of the small bowel" BROAD [DOID:4907, NCIT:C7724] +synonym: "cancer of small bowel" BROAD [] +synonym: "cancer of the small bowel" BROAD [] synonym: "carcinoma of small bowel" EXACT [NCIT:C7724] synonym: "carcinoma of small intestine" EXACT [MONDO:patterns/carcinoma, NCIT:C7724] synonym: "carcinoma of the small bowel" EXACT [NCIT:C7724] synonym: "carcinoma of the small intestine" EXACT [NCIT:C7724] -synonym: "small bowel cancer" BROAD [DOID:4907, NCIT:C7724] -synonym: "small bowel carcinoma" EXACT [NCIT:C7724] -synonym: "small intestinal cancer" BROAD [NCIT:C7724] +synonym: "small bowel cancer" BROAD [] +synonym: "small bowel carcinoma" EXACT [icd11.foundation:1484520499, NCIT:C7724] +synonym: "small intestinal cancer" BROAD [] synonym: "small intestinal carcinoma" EXACT [DOID:4907, NCIT:C7724] -synonym: "small intestine cancer" BROAD [NCIT:C7724] -synonym: "small intestine cancer, NOS" EXACT [NCIT:C7724] -synonym: "small intestine carcinoma" EXACT [MONDO:patterns/location] +synonym: "small intestine cancer" BROAD [] +synonym: "small intestine cancer, NOS" EXACT [] +synonym: "small intestine carcinoma" EXACT [DOID:4907, icd11.foundation:1484520499, MONDO:patterns/location] xref: DOID:4907 {source="EFO:0005588", source="MONDO:equivalentTo"} xref: EFO:0005588 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1484520499 {source="MONDO:equivalentTo"} @@ -107141,7 +107148,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of sweat gland" EXACT [MONDO:patterns/carcinoma, NCIT:C6938] synonym: "carcinoma of the sweat gland" EXACT [DOID:5667, NCIT:C6938] synonym: "carcinoma, sweat gland, malignant" EXACT [NCIT:C6938] -synonym: "sweat gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6938] +synonym: "sweat gland carcinoma" EXACT [DOID:5667, MONDO:patterns/location, NCIT:C6938] synonym: "sweat gland carcinoma/apocrine eccrine carcinoma" RELATED [ONCOTREE:AECA] xref: DOID:5667 {source="MONDO:equivalentTo", source="EFO:0005591"} xref: EFO:0005591 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -107230,7 +107237,7 @@ name: toxic encephalopathy def: "A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "neurotoxicity" EXACT [DOID:3602, NCIT:C27961] -synonym: "neurotoxicity syndrome" EXACT [DOID:3602] +synonym: "neurotoxicity syndrome" EXACT [DOID:3602, NCIT:C27961] synonym: "neurotoxicity syndromes" RELATED [GARD:0007199] xref: DOID:3602 {source="MONDO:equivalentTo", source="EFO:0005595"} xref: EFO:0005595 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -107253,7 +107260,7 @@ subset: rare synonym: "inborn error of vitamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn vitamin metabolic process disorder" EXACT [] synonym: "rare inborn error of vitamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -synonym: "vitamin metabolic disorder" RELATED [DOID:0050718] +synonym: "vitamin metabolic disorder" RELATED [] xref: DOID:0050718 {source="EFO:0005596", source="MONDO:equivalentTo"} xref: EFO:0005596 {source="MONDO:equivalentTo", source="MONDO:EFO"} is_a: MONDO:0019052 {source="DOID:0050718", source="MONDO:Redundant"} ! inborn errors of metabolism @@ -107413,7 +107420,7 @@ def: "An inflammatory process affecting the anus. It is usually caused by sexual subset: otar {source="MONDO:OTAR"} synonym: "anus inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of anus" EXACT [] -synonym: "rectitis" EXACT [NCIT:C38011] +synonym: "rectitis" EXACT [] xref: DOID:3127 {source="MONDO:equivalentTo", source="EFO:0005628"} xref: EFO:0005628 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K62.89 {source="DOID:3127"} @@ -107460,7 +107467,7 @@ id: MONDO:0005541 name: spondylolysis def: "A defect in the pars interarticularis of a vertebral bone." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "spondylolysis" EXACT [MONDO:ambiguous] +synonym: "spondylolysis" EXACT [DOID:2300, icd11.foundation:790009325, MONDO:ambiguous, NCIT:C35034] synonym: "spondylolysis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2300 {source="MONDO:equivalentTo", source="EFO:0005649"} xref: EFO:0005649 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -107512,7 +107519,7 @@ subset: gard_rare {source="GARD:22251", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:563576"} subset: rare -synonym: "autoimmune hepatitis type 1" EXACT [] +synonym: "autoimmune hepatitis type 1" EXACT [icd11.foundation:260422751, Orphanet:563576] synonym: "type 1 AIH" EXACT [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/] xref: GARD:22251 {source="MONDO:GARD"} xref: icd11.foundation:260422751 {source="MONDO:equivalentTo"} @@ -107557,7 +107564,7 @@ id: MONDO:0005546 name: fibromyalgia def: "A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation." [NCIT:C87497] subset: otar {source="MONDO:OTAR"} -synonym: "fibromyalgia" EXACT [NCIT:C87497] +synonym: "fibromyalgia" EXACT [DOID:631, ICD10CM:M79.7, NCIT:C87497] synonym: "fibromyalgia syndrome" EXACT [NCIT:C87497] xref: DOID:631 {source="EFO:0005687", source="MONDO:equivalentTo"} xref: EFO:0005687 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -107618,8 +107625,8 @@ synonym: "kidney adenocarcinoma" EXACT [NCIT:C9385] synonym: "RCC" EXACT ABBREVIATION [NCIT:C9385] synonym: "renal cell adenocarcinoma" EXACT [NCIT:C9385] synonym: "renal cell cancer" EXACT [NCIT:C9385] -synonym: "renal cell carcinoma" BROAD [NCIT:C9385] -synonym: "renal cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C9385] +synonym: "renal cell carcinoma" BROAD [] +synonym: "renal cell carcinoma, NOS" RELATED EXCLUDE [] synonym: "renal cell carcinoma, stage unspecified" EXACT [NCIT:C9385] xref: EFO:0005708 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8311/1 {source="NCIT:C9385"} @@ -107637,10 +107644,10 @@ def: "A disorder directly resulting from the presence and activity of a microbia comment: Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. {source="EFO:0005741"} subset: otar {source="MONDO:OTAR"} subset: rare_grouping -synonym: "clinical infection" NARROW [NCIT:C26726] +synonym: "clinical infection" NARROW [] synonym: "communicable disease" EXACT [doi:10.1007/978-1-4020-5614-7_3557, https://www.merriam-webster.com/medical/communicable%20disease] -synonym: "disease by infectious agent" RELATED [DOID:0050117] -synonym: "ID" RELATED EXCLUDE [NCIT:C26726] +synonym: "disease by infectious agent" RELATED [] +synonym: "ID" RELATED EXCLUDE [] synonym: "infection" EXACT [NCIT:C26726] synonym: "infectious" EXACT [NCIT:C26726] synonym: "infectious disease" EXACT [DOID:0050117, NCIT:C26726] @@ -107711,17 +107718,17 @@ name: rheumatic disorder def: "Inflammatory and degenerative diseases of connective tissue structures, such as arthritis." [NCIT:C27204] comment: This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue subset: otar {source="MONDO:OTAR"} -synonym: "collagen disease" RELATED [NCIT:C27204] -synonym: "collagen vascular disease" RELATED [NCIT:C27204] -synonym: "connective tissue disease" RELATED [NCIT:C27204] +synonym: "collagen disease" RELATED [] +synonym: "collagen vascular disease" RELATED [] +synonym: "connective tissue disease" RELATED [] synonym: "disease, rheumatic" RELATED [MESH:D012216] synonym: "diseases, rheumatic" RELATED [MESH:D012216] synonym: "enthesopathies" RELATED [MESH:D012216] synonym: "enthesopathy" RELATED [MESH:D012216] -synonym: "inflammatory rheumatism" RELATED [NCIT:C27204] -synonym: "musculoskeletal pain disorder" RELATED [NCIT:C27204] -synonym: "rheumatic disease" EXACT [MESH:D012216, NCIT:C27204] -synonym: "rheumatism" RELATED [MESH:D012216, NCIT:C27204] +synonym: "inflammatory rheumatism" RELATED [] +synonym: "musculoskeletal pain disorder" RELATED [] +synonym: "rheumatic disease" EXACT [DOID:1575, MESH:D012216, NCIT:C27204] +synonym: "rheumatism" RELATED [MESH:D012216] synonym: "rheumatologic disorder" EXACT [NCIT:C27204] xref: DOID:1575 {source="EFO:0005755", source="MONDO:equivalentTo"} xref: EFO:0005755 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -107746,7 +107753,7 @@ def: "Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a subset: otar {source="MONDO:OTAR"} synonym: "accommodative paresis" RELATED [] synonym: "ciliary muscle paresis" EXACT [DOID:10033] -synonym: "cycloplegia" EXACT [] +synonym: "cycloplegia" EXACT [DOID:10033] synonym: "cycloplegic paralysis of accommodation" EXACT [DOID:10033] synonym: "loss of accommodation" RELATED [] synonym: "paralysis of accommodation" RELATED [] @@ -107777,7 +107784,7 @@ synonym: "glomerulonephritis, lupus" RELATED [MESH:D008181] synonym: "lupus Glomerulonephritides" RELATED [MESH:D008181] synonym: "lupus glomerulonephritis" EXACT [MESH:D008181, NCIT:C34789] synonym: "lupus Nephritides" RELATED [MESH:D008181] -synonym: "lupus nephritis" EXACT [NCIT:C34789] +synonym: "lupus nephritis" EXACT [DOID:0080162, icd11.foundation:1815692673, NCIT:C34789] synonym: "Nephritides, lupus" RELATED [MESH:D008181] synonym: "nephritis, lupus" RELATED [MESH:D008181] synonym: "SLE nephritis" EXACT [NCIT:C34789] @@ -107802,7 +107809,7 @@ name: calcium metabolic disease def: "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." [MESH:D002128] comment: Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease. {source="EFO:0005769"} subset: otar {source="MONDO:OTAR"} -synonym: "calcium metabolism disease" RELATED [DOID:10575] +synonym: "calcium metabolism disease" RELATED [] synonym: "calcium metabolism disorder" RELATED [] synonym: "disorder of calcium metabolism" EXACT [] xref: DOID:10575 {source="MONDO:equivalentTo", source="EFO:0005769"} @@ -107833,7 +107840,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "disease of ovary" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of ovary" EXACT [] synonym: "disorder of ovary" EXACT [MONDO:patterns/location_top] -synonym: "ovarian disease" EXACT [NCIT:C26841] +synonym: "ovarian disease" EXACT [DOID:1100, NCIT:C26841] synonym: "ovarian disorder" EXACT [NCIT:C26841] synonym: "ovary disease" EXACT [MONDO:patterns/location] synonym: "ovary disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -107856,13 +107863,13 @@ def: "A disorder of the central nervous system characterized by gradual and prog comment: Editor notes: DO treats this as two diseases subset: merged_class subset: otar {source="MONDO:OTAR"} -synonym: "brain degeneration" EXACT [DOID:1443] +synonym: "brain degeneration" EXACT [] synonym: "central nervous system degenerative disorder" EXACT [MONDO:patterns/location, NCIT:C4802] synonym: "central nervous system neurodegenerative disorder" EXACT [NCIT:C4802] synonym: "cerebral degeneration disease" NARROW [MONDO:0001963] -synonym: "degenerative disease" BROAD [DOID:1289] +synonym: "degenerative disease" BROAD [] synonym: "degenerative disorder of central nervous system" EXACT [MONDO:design_pattern] -synonym: "neurodegenerative disease" EXACT [DOID:1289, NCIT:C4802] +synonym: "neurodegenerative disease" EXACT [DOID:1289] xref: DOID:1289 {source="EFO:0005772", source="MONDO:equivalentTo"} xref: EFO:0005772 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G30-G32 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -107884,12 +107891,12 @@ name: brain disorder def: "A disease affecting the brain or part of the brain." [EFO:0005774] comment: Editor note: NCIT has different classes for brain disease and encephalopathy subset: otar {source="MONDO:OTAR"} -synonym: "brain disease" EXACT [MONDO:patterns/location] +synonym: "brain disease" EXACT [DOID:936, MONDO:patterns/location] synonym: "brain disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "disease of brain" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of brain" EXACT [] synonym: "disorder of brain" EXACT [MONDO:patterns/location_top] -synonym: "encephalopathy" NARROW [DOID:936, NCIT:C26920] +synonym: "encephalopathy" NARROW [] xref: DOID:936 {source="EFO:0005774", source="MONDO:equivalentTo"} xref: EFO:0005774 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G93.40 {source="DOID:936"} @@ -107917,7 +107924,7 @@ id: MONDO:0005561 name: aortic disorder def: "Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)" [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "aorta disease" EXACT [MONDO:patterns/location] +synonym: "aorta disease" EXACT [MONDO:patterns/location, NCIT:C101253] synonym: "aorta disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "aortic disorder" EXACT [DOID:520] synonym: "disease of aorta" EXACT [MONDO:patterns/location_top] @@ -107958,10 +107965,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carcinoma with t(15;19)(q13;p13.1) translocation" EXACT [NCIT:C45716] synonym: "Midline carcinoma of children and Young adults with NUT rearrangement" EXACT [NCIT:C45716] -synonym: "NMC" EXACT ABBREVIATION [Orphanet:443167] -synonym: "nuclear protein in testis midline carcinoma" EXACT [DOID:0060463] +synonym: "NMC" EXACT ABBREVIATION [NCIT:C45716, Orphanet:443167] +synonym: "nuclear protein in testis midline carcinoma" EXACT [DOID:0060463, NCIT:C45716] synonym: "NUT carcinoma" EXACT [NCIT:C45716] -synonym: "NUT Midline carcinoma" EXACT [NCIT:C45716] +synonym: "NUT Midline carcinoma" EXACT [DOID:0060463, NCIT:C45716, Orphanet:443167] synonym: "NUT midline carcinoma of the head and neck" RELATED [ONCOTREE:NMCHN] xref: DOID:0060463 {source="MONDO:equivalentTo"} xref: EFO:0005783 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -107984,9 +107991,9 @@ name: embryonal neoplasm def: "A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003" [NCIT:C3264] subset: otar {source="MONDO:OTAR"} synonym: "embryo neoplasm" EXACT [DOID:688] -synonym: "embryonal cancer" RELATED [DOID:688] -synonym: "embryonal neoplasm" EXACT [NCIT:C3264] -synonym: "embryonal tumor" EXACT [NCIT:C3264] +synonym: "embryonal cancer" RELATED [] +synonym: "embryonal neoplasm" EXACT [DOID:688, NCIT:C3264] +synonym: "embryonal tumor" EXACT [] synonym: "embryonal tumour" EXACT OMO:0003005 [] synonym: "EMBT" RELATED ABBREVIATION [ONCOTREE:EMBT] xref: DOID:688 {source="MONDO:equivalentTo"} @@ -108004,7 +108011,7 @@ name: blastoma def: "A malignant neoplasm composed of undifferentiated cells." [NCIT:C8997] comment: We follow NCIT and treat embryoma and colorectal cancer as equivalent. subset: otar {source="MONDO:OTAR"} -synonym: "blastoma" EXACT [DOID:0070003, NCIT:C8997] +synonym: "blastoma" EXACT [DOID:0070003, DOID:4766, NCIT:C8997] synonym: "embryoma" EXACT [DOID:4766, NCIT:C8997] xref: DOID:0070003 {source="EFO:0005785", source="MONDO:equivalentTo"} xref: DOID:4766 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -108051,7 +108058,7 @@ synonym: "drug withdrawal syndrome" EXACT [] synonym: "substance withdrawal" EXACT [] synonym: "substance withdrawal disorder" EXACT [MONDO:0000566] synonym: "substance withdrawal syndrome" EXACT [NCIT:C35046] -synonym: "withdrawal disorder" RELATED [DOID:0060001] +synonym: "withdrawal disorder" RELATED [] synonym: "withdrawal syndrome" EXACT [NCIT:C35046] xref: DOID:0060001 {source="MONDO:equivalentTo"} xref: EFO:0005800 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -108074,9 +108081,9 @@ def: "Blocking of a blood vessel by cholesterol-rich atheromatous deposits, gene subset: otar {source="MONDO:OTAR"} synonym: "atheroembolism" EXACT [DOID:1461] synonym: "cholesterol crystal embolism" EXACT [DOID:1461] -synonym: "purple toe syndrome" NARROW [DOID:1461] -synonym: "trash foot" NARROW [DOID:1461] -synonym: "warfarin blue toe syndrome" NARROW [DOID:1461] +synonym: "purple toe syndrome" NARROW [] +synonym: "trash foot" NARROW [] +synonym: "warfarin blue toe syndrome" NARROW [] xref: DOID:1461 {source="EFO:0005801", source="MONDO:equivalentTo"} xref: EFO:0005801 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:I75 {source="DOID:1461"} @@ -108096,10 +108103,10 @@ id: MONDO:0005569 name: obsolete cartilage disease def: "OBSOLETE. Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE)." [EFO:0005802] comment: Reason: grouping class. -synonym: "cartilage disorder" EXACT [DOID:1222] +synonym: "cartilage disorder" EXACT [] synonym: "cartilage tissue disease" EXACT [MONDO:patterns/location] synonym: "cartilage tissue disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "chondropathy" EXACT [DOID:1222] +synonym: "chondropathy" EXACT [] synonym: "disease of cartilage tissue" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of cartilage tissue" EXACT [] synonym: "disorder of cartilage tissue" EXACT [MONDO:patterns/location_top] @@ -108130,11 +108137,11 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:97992"} subset: otar {source="MONDO:OTAR"} subset: rare_grouping -synonym: "blood disease" EXACT [DOID:74] +synonym: "blood disease" EXACT [DOID:74, NCIT:C26323] synonym: "blood disorder" EXACT [DOID:74, NCIT:C26323] synonym: "blood dyscrasia" EXACT [DOID:74] -synonym: "blood dyscrasia NOS" RELATED EXCLUDE [DOID:74] -synonym: "disease of haematopoietic system" EXACT OMO:0003005 [] +synonym: "blood dyscrasia NOS" RELATED EXCLUDE [] +synonym: "disease of haematopoietic system" EXACT OMO:0003005 [DOID:74] synonym: "disease of hematopoietic system" EXACT [DOID:74, MONDO:patterns/location_top] synonym: "disease of the blood and blood-forming organs" EXACT [DOID:74, ICD9CM:280-289.99] synonym: "disease or disorder of haematopoietic system" EXACT OMO:0003005 [] @@ -108146,7 +108153,7 @@ synonym: "haematological disorder" EXACT OMO:0003005 [] synonym: "haematological disorders and malignancies" RELATED OMO:0003005 [] synonym: "haematological system disease" EXACT OMO:0003005 [] synonym: "haematopoietic disease" EXACT OMO:0003005 [] -synonym: "haematopoietic system disease" EXACT OMO:0003005 [] +synonym: "haematopoietic system disease" EXACT OMO:0003005 [DOID:74] synonym: "haematopoietic system disease or disorder" EXACT OMO:0003005 [] synonym: "hematologic and lymphocytic disorder" EXACT [NCIT:C26323] synonym: "hematologic disorder" EXACT [NCIT:C26323] @@ -108154,10 +108161,10 @@ synonym: "hematological disease" EXACT [DOID:74, MTH:NOCODE] synonym: "hematological disorder" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C26323] synonym: "hematological disorders and malignancies" RELATED [GTR:AN1320635] synonym: "hematological system disease" EXACT [https://orcid.org/0000-0002-0736-9199] -synonym: "hematopoietic disease" EXACT [DOID:74] -synonym: "hematopoietic system disease" EXACT [MONDO:patterns/location] +synonym: "hematopoietic disease" EXACT [] +synonym: "hematopoietic system disease" EXACT [DOID:74, MONDO:patterns/location] synonym: "hematopoietic system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "rare hematologic disease" EXACT [MONDO:0020006] +synonym: "rare hematologic disease" EXACT [MONDO:0020006, Orphanet:97992] xref: DOID:74 {source="MONDO:equivalentTo", source="EFO:0005803"} xref: EFO:0005803 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GTR:AN1320635 @@ -108197,7 +108204,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98427"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "erythrocythemia" EXACT [DOID:8432] -synonym: "polycythemia" EXACT [NCIT:C26863] +synonym: "polycythemia" EXACT [DOID:8432, NCIT:C26863, Orphanet:98427] synonym: "polycythemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:8432 {source="MONDO:equivalentTo", source="EFO:0005804"} xref: EFO:0005804 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -108257,21 +108264,21 @@ def: "A primary or metastatic malignant neoplasm that affects the colon or rectu comment: Editor note: some sources make distinct classes for colorectal vs large intestine. We follow NCIT and make these equivalent subset: otar {source="MONDO:OTAR"} synonym: "cancer of colorectum" EXACT [MONDO:patterns/cancer] -synonym: "cancer of large bowel" EXACT [NCIT:C2955] -synonym: "cancer of large intestine" EXACT [NCIT:C2955] -synonym: "cancer of the large bowel" EXACT [NCIT:C2955] -synonym: "colon cancer" RELATED [OMIM:114500] -synonym: "colon cancer, advanced, somatic" EXACT [OMIM:114500, OMIM:genemap2] -synonym: "colon cancer, somatic" EXACT [OMIM:114500, OMIM:genemap2] -synonym: "colon cancer, susceptibility to, autosomal dominant, somatic mutation" RELATED [OMIM:114500, OMIM:genemap2] -synonym: "colorectal cancer" EXACT [MONDO:Lexical, OMIM:114500] -synonym: "colorectal cancer with chromosomal instability, somatic" EXACT [OMIM:114500, OMIM:genemap2] -synonym: "colorectal cancer, autosomal dominant, somatic mutation" EXACT [OMIM:114500, OMIM:genemap2] -synonym: "colorectal cancer, somatic" EXACT [OMIM:114500, OMIM:genemap2] -synonym: "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:114500, OMIM:genemap2] +synonym: "cancer of large bowel" EXACT [] +synonym: "cancer of large intestine" EXACT [] +synonym: "cancer of the large bowel" EXACT [] +synonym: "colon cancer" RELATED [] +synonym: "colon cancer, advanced, somatic" EXACT [] +synonym: "colon cancer, somatic" EXACT [] +synonym: "colon cancer, susceptibility to, autosomal dominant, somatic mutation" RELATED [] +synonym: "colorectal cancer" EXACT [DOID:9256, MONDO:Lexical, OMIM:114500] +synonym: "colorectal cancer with chromosomal instability, somatic" EXACT [] +synonym: "colorectal cancer, autosomal dominant, somatic mutation" EXACT [] +synonym: "colorectal cancer, somatic" EXACT [] +synonym: "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [] synonym: "colorectum cancer" EXACT [MONDO:patterns/location] -synonym: "CRC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114500] -synonym: "large intestine cancer" RELATED [DOID:5672] +synonym: "CRC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "large intestine cancer" RELATED [] synonym: "malignant colorectal neoplasm" EXACT [NCIT:C4978] synonym: "malignant colorectal tumor" EXACT [NCIT:C4978] synonym: "malignant colorectal tumour" EXACT OMO:0003005 [] @@ -108321,7 +108328,7 @@ id: MONDO:0005576 name: cryoglobulinemia def: "Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause." [https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia] subset: otar {source="MONDO:OTAR"} -synonym: "cryoglobulinemia" EXACT [DOID:2917, MTH:NOCODE] +synonym: "cryoglobulinemia" EXACT [DOID:2917, ICD10CM:D89.1, MTH:NOCODE, NCIT:C26736] synonym: "Cryoimmunoglobulinaemia" EXACT [DOID:2917] xref: DOID:2917 {source="MONDO:equivalentTo", source="EFO:0005846"} xref: EFO:0005846 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -108351,7 +108358,7 @@ comment: Editor note: osteoarthritis is primarily non-inflammatory which causes subset: otar {source="MONDO:OTAR"} synonym: "arthritis" EXACT [DOID:848, NCIT:C2883] synonym: "inflammation of skeletal joint" EXACT [] -synonym: "inflammatory disorder of joint" NARROW [DOID:848] +synonym: "inflammatory disorder of joint" NARROW [] synonym: "skeletal joint inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:848 {source="EFO:0005856", source="MONDO:equivalentTo"} xref: EFO:0005856 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -108380,10 +108387,10 @@ name: idiopathic generalized epilepsy def: "A generalised epilepsy that encompasses several common seizure phenotypes including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures alone. These epilepsy syndromes have polygenic inheritance with or without environmental factors contributing to seizure susceptibility. Seizure types include one or a combination of absence seizures, myoclonic seizures and/or generalized tonic-clonic seizures." [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/epilepsy/generalized-epilepsy-groupoverview.html, OMIM:600669] comment: Note - this term is labeled 'idiopathic generalized epilepsy' for historical reasons but it is known to have a genetic cause. subset: otar {source="MONDO:OTAR"} -synonym: "EIG" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] -synonym: "epilepsy, idiopathic generalized" EXACT [MONDO:Lexical, OMIM:600669] -synonym: "generalized epilepsy" BROAD [DOID:1827] -synonym: "hereditary idiopathic generalized epilepsy" EXACT [Orphanet:307] +synonym: "EIG" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165, OMIM:600669] +synonym: "epilepsy, idiopathic generalized" EXACT [MONDO:Lexical, OMIM:600669, OMIMPS:600669] +synonym: "generalized epilepsy" BROAD [] +synonym: "hereditary idiopathic generalized epilepsy" EXACT [] synonym: "idiopathic generalised epilepsy" EXACT OMO:0003005 [] synonym: "idiopathic generalized epilepsy" EXACT [DOID:1827, OMIM:600669] synonym: "IGE" EXACT ABBREVIATION [https://www.epilepsydiagnosis.org/epilepsy/generalized-epilepsy-groupoverview.html] @@ -108422,18 +108429,18 @@ synonym: "esophageal scc" EXACT [NCIT:C4024] synonym: "esophageal squamous cell cancer" EXACT [NCIT:C4024] synonym: "esophageal squamous cell carcinoma" EXACT [NCIT:C4024, Orphanet:99977] synonym: "esophagus scc" EXACT [NCIT:C4024] -synonym: "esophagus squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4024] +synonym: "esophagus squamous cell carcinoma" EXACT [DOID:3748, MONDO:patterns/location, NCIT:C4024] synonym: "oesophagus scc" EXACT OMO:0003005 [] -synonym: "oesophagus squamous cell carcinoma" EXACT OMO:0003005 [] +synonym: "oesophagus squamous cell carcinoma" EXACT OMO:0003005 [DOID:3748] synonym: "scc of esophagus" EXACT [DOID:3748, NCIT:C4024] -synonym: "scc of oesophagus" EXACT OMO:0003005 [] +synonym: "scc of oesophagus" EXACT OMO:0003005 [DOID:3748] synonym: "scc of the esophagus" EXACT [NCIT:C4024] synonym: "scc of the oesophagus" EXACT OMO:0003005 [] -synonym: "squamous cell car. - esophagus" EXACT [NCIT:C4024] +synonym: "squamous cell car. - esophagus" EXACT [] synonym: "squamous cell car. - oesophagus" EXACT OMO:0003005 [] -synonym: "squamous cell carcinoma of esophagus" EXACT [DOID:3748, NCIT:C4024] -synonym: "squamous cell carcinoma of oesophagus" EXACT OMO:0003005 [] -synonym: "squamous cell carcinoma of the esophagus" EXACT [NCIT:C4024] +synonym: "squamous cell carcinoma of esophagus" EXACT [NCIT:C4024] +synonym: "squamous cell carcinoma of oesophagus" EXACT OMO:0003005 [icd11.foundation:1417891145] +synonym: "squamous cell carcinoma of the esophagus" EXACT [NCIT:C4024, Orphanet:99977] synonym: "squamous cell carcinoma of the oesophagus" EXACT OMO:0003005 [] xref: DOID:3748 {source="EFO:0005922", source="MONDO:equivalentTo"} xref: EFO:0005922 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -108471,7 +108478,7 @@ name: binge eating disorder def: "Recurrent episodes of over-eating." [NCIT:C97162] subset: otar {source="MONDO:OTAR"} synonym: "binge eating" EXACT [NCIT:C97162] -synonym: "binge eating disorder" EXACT [] +synonym: "binge eating disorder" EXACT [icd11.foundation:1673294767] xref: EFO:0005924 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1673294767 {source="MONDO:equivalentTo"} xref: MEDGEN:154543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -108586,14 +108593,14 @@ id: MONDO:0005590 name: breast ductal adenocarcinoma def: "A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist." [NCIT:C4017] subset: otar {source="MONDO:OTAR"} -synonym: "breast ductal carcinoma" EXACT [MONDO:0002484] -synonym: "duct adenocarcinoma" BROAD [NCIT:C4017] -synonym: "duct carcinoma" BROAD [NCIT:C4017] -synonym: "duct carcinoma, NOS" RELATED EXCLUDE [DOID:3007] -synonym: "ductal adenocarcinoma" BROAD [NCIT:C4017] +synonym: "breast ductal carcinoma" EXACT [DOID:3007, MONDO:0002484, NCIT:C4017] +synonym: "duct adenocarcinoma" BROAD [] +synonym: "duct carcinoma" BROAD [] +synonym: "duct carcinoma, NOS" RELATED EXCLUDE [] +synonym: "ductal adenocarcinoma" BROAD [] synonym: "ductal breast adenocarcinoma" EXACT [MONDO:0005022] synonym: "ductal breast carcinoma" EXACT [NCIT:C4017] -synonym: "ductal carcinoma" BROAD [NCIT:C4017] +synonym: "ductal carcinoma" BROAD [] synonym: "ductal carcinoma of breast" EXACT [NCIT:C4017] synonym: "ductal carcinoma of the breast" EXACT [NCIT:C4017] synonym: "mammary duct adenocarcinoma" EXACT [MONDO:patterns/location] @@ -108672,13 +108679,13 @@ subset: rare synonym: "epidermoid carcinoma of larynx" EXACT [NCIT:C4044] synonym: "epidermoid carcinoma of the larynx" EXACT [DOID:2876, NCIT:C4044] synonym: "laryngeal epidermoid carcinoma" EXACT [NCIT:C4044] -synonym: "laryngeal squamous cell carcinoma" EXACT [NCIT:C4044] +synonym: "laryngeal squamous cell carcinoma" EXACT [DOID:2876, NCIT:C4044] synonym: "laryngeal throat squamous cell cancer" EXACT [NCIT:C4044] synonym: "larynx epidermoid carcinoma" EXACT [NCIT:C4044] synonym: "larynx squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4044] synonym: "LXSC" RELATED ABBREVIATION [ONCOTREE:LXSC] -synonym: "squamous cell carcinoma of larynx" EXACT [NCIT:C4044] -synonym: "squamous cell carcinoma of the larynx" EXACT [NCIT:C4044] +synonym: "squamous cell carcinoma of larynx" EXACT [DOID:2876, NCIT:C4044] +synonym: "squamous cell carcinoma of the larynx" EXACT [NCIT:C4044, Orphanet:494550] xref: DOID:2876 {source="MONDO:equivalentTo", source="EFO:0006352"} xref: EFO:0006352 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:17908 {source="MONDO:GARD"} @@ -108700,9 +108707,9 @@ id: MONDO:0005596 name: cystadenocarcinoma def: "A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas." [NCIT:C2971] subset: otar {source="MONDO:OTAR"} -synonym: "cystadenocarcinoma" EXACT [NCIT:C2971] -synonym: "cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3111] -synonym: "cystadenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3111] +synonym: "cystadenocarcinoma" EXACT [DOID:3111, NCIT:C2971] +synonym: "cystadenocarcinoma (morphologic abnormality)" EXACT [] +synonym: "cystadenocarcinoma NOS (morphologic abnormality)" EXACT [] synonym: "cystadenocarcinoma, malignant" EXACT [NCIT:C2971] xref: DOID:3111 {source="MONDO:equivalentTo", source="EFO:0006387"} xref: EFO:0006387 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -108755,9 +108762,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "epithelial mesothelioma" EXACT [NCIT:C7985] synonym: "epithelioid mesothelioma" EXACT [NCIT:C7985] -synonym: "epithelioid mesothelioma, malignant" EXACT [DOID:4489] -synonym: "epithelioid mesothelioma, malignant (morphologic abnormality)" EXACT [DOID:4489] -synonym: "malignant epithelial mesothelioma" EXACT [NCIT:C7985] +synonym: "epithelioid mesothelioma, malignant" EXACT [NCIT:C7985] +synonym: "epithelioid mesothelioma, malignant (morphologic abnormality)" EXACT [] +synonym: "malignant epithelial mesothelioma" EXACT [DOID:4489, NCIT:C7985] xref: DOID:4489 {source="MONDO:equivalentTo", source="EFO:0006452"} xref: EFO:0006452 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:9052/3 {source="NCIT:C7985"} @@ -108783,11 +108790,11 @@ subset: ordo_disorder {source="Orphanet:398961"} subset: orphanet_rare {source="Orphanet:398961"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mucinous adenocarcinoma of ovary" EXACT [MONDO:0018366, NCIT:C5243] +synonym: "mucinous adenocarcinoma of ovary" EXACT [icd11.foundation:869438441, MONDO:0018366, NCIT:C5243, Orphanet:398961] synonym: "mucinous adenocarcinoma of the ovary" EXACT [NCIT:C5243] synonym: "mucinous carcinoma of ovary" EXACT [DOID:3606, NCIT:C5243] synonym: "mucinous carcinoma of the ovary" EXACT [NCIT:C5243] -synonym: "ovarian mucinous adenocarcinoma" EXACT [NCIT:C5243, Orphanet:398961] +synonym: "ovarian mucinous adenocarcinoma" EXACT [DOID:3606, NCIT:C5243, Orphanet:398961] synonym: "ovarian mucinous carcinoma" EXACT [NCIT:C5243] synonym: "ovary mucinous adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3606 {source="MONDO:equivalentTo", source="EFO:0006462"} @@ -108815,8 +108822,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "germ cell teratoma of ovary" EXACT [DOID:5567, NCIT:C8110] synonym: "germ cell teratoma of the ovary" EXACT [NCIT:C8110] -synonym: "ovarian germ cell teratoma" EXACT [NCIT:C8110] -synonym: "ovarian teratoma" EXACT [NCIT:C8110] +synonym: "ovarian germ cell teratoma" EXACT [DOID:5567, NCIT:C8110] +synonym: "ovarian teratoma" EXACT [icd11.foundation:1752240825, NCIT:C8110] synonym: "teratoma of ovary" EXACT [NCIT:C8110] synonym: "teratoma of the ovary" EXACT [NCIT:C8110] xref: DOID:5567 {source="MONDO:equivalentTo", source="EFO:0006463"} @@ -108853,12 +108860,12 @@ id: MONDO:0005605 name: transitional cell papilloma def: "A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." [NCIT:C4115] subset: otar {source="MONDO:OTAR"} -synonym: "papilloma, transitional cell, benign" EXACT [NCIT:C4115] +synonym: "papilloma, transitional cell, benign" EXACT [] synonym: "transitional cell papilloma" EXACT [DOID:2670, NCIT:C4115] -synonym: "transitional cell papilloma NOS (morphologic abnormality)" EXACT [DOID:2670] +synonym: "transitional cell papilloma NOS (morphologic abnormality)" EXACT [] synonym: "transitional cell papilloma, benign" EXACT [DOID:2670] -synonym: "transitional cell papilloma, benign (morphologic abnormality)" EXACT [DOID:2670] -synonym: "transitional papilloma" EXACT [NCIT:C4115] +synonym: "transitional cell papilloma, benign (morphologic abnormality)" EXACT [] +synonym: "transitional papilloma" EXACT [DOID:2670, NCIT:C4115] xref: DOID:2670 {source="MONDO:equivalentTo", source="EFO:0006497"} xref: EFO:0006497 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8120/0 {source="NCIT:C4115"} @@ -108879,9 +108886,9 @@ name: tubular adenocarcinoma def: "An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma." [NCIT:C65192] subset: otar {source="MONDO:OTAR"} synonym: "carcinoma, tubular cell, malignant" EXACT [NCIT:C65192] -synonym: "tubular adenocarcinoma" EXACT [NCIT:C65192] -synonym: "tubular adenocarcinoma (morphologic abnormality)" EXACT [DOID:4929] -synonym: "tubular carcinoma" EXACT [DOID:4929, NCIT:C3682] +synonym: "tubular adenocarcinoma" EXACT [DOID:4929, NCIT:C65192] +synonym: "tubular adenocarcinoma (morphologic abnormality)" EXACT [] +synonym: "tubular carcinoma" EXACT [DOID:4929] xref: DOID:4929 {source="EFO:0006500", source="MONDO:equivalentTo"} xref: EFO:0006500 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8211/3 {source="NCIT:C65192"} @@ -108936,10 +108943,10 @@ name: herpes zoster def: "A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area." [NCIT:C71079] subset: otar {source="MONDO:OTAR"} synonym: "herpes zona" EXACT [DOID:8536] -synonym: "herpes Zoster" EXACT [NCIT:C71079] +synonym: "herpes Zoster" EXACT [DOID:8536, NCIT:C71079] synonym: "postherpetic neuralgia" RELATED [] -synonym: "shingles" EXACT [DOID:8536, NCIT:C71079] -synonym: "Zoster" EXACT [NCIT:C71079] +synonym: "shingles" EXACT [DOID:8536, ICD10CM:B02, NCIT:C71079] +synonym: "Zoster" EXACT [ICD10CM:B02, NCIT:C71079] xref: DOID:8536 {source="EFO:0006510", source="MONDO:equivalentTo"} xref: EFO:0006510 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B02 {source="DOID:8536", source="MONDO:equivalentTo"} @@ -108989,7 +108996,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bladder transitional cell carcinoma" EXACT [DOID:4006, NCIT:C39851] synonym: "bladder urothelial cancer" EXACT [NCIT:C39851] -synonym: "bladder urothelial carcinoma" EXACT [NCIT:C39851] +synonym: "bladder urothelial carcinoma" EXACT [DOID:4006, NCIT:C39851] synonym: "BLCA" RELATED ABBREVIATION [ONCOTREE:BLCA] synonym: "transitional cell carcinoma of bladder" EXACT [DOID:4006] synonym: "transitional cell carcinoma of the urinary bladder" EXACT [NCIT:C39851] @@ -109038,13 +109045,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenosquamous carcinoma of pancreas" EXACT [DOID:5637, NCIT:C5721] -synonym: "adenosquamous carcinoma of the pancreas" EXACT [DOID:5637, NCIT:C5721] +synonym: "adenosquamous carcinoma of the pancreas" EXACT [NCIT:C5721] synonym: "adenosquamous pancreas carcinoma" EXACT [MONDO:0003560] synonym: "PAASC" RELATED ABBREVIATION [ONCOTREE:PAASC] synonym: "pancreas adenosquamous carcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic adenoacanthoma" EXACT [NCIT:C5721] synonym: "pancreatic adenosquamous cancer" EXACT [NCIT:C5721] -synonym: "pancreatic adenosquamous carcinoma" EXACT [NCIT:C5721] +synonym: "pancreatic adenosquamous carcinoma" EXACT [DOID:5637, NCIT:C5721] synonym: "pancreatic mixed squamous and adenocarcinoma" EXACT [NCIT:C5721] synonym: "pancreatic mucoepidermoid carcinoma" EXACT [NCIT:C5721] xref: DOID:5637 {source="MONDO:equivalentTo"} @@ -109074,11 +109081,11 @@ synonym: "anaplastic plasmacytoma" RELATED [GARD:0007404] synonym: "anaplastic skeletal plasmacytoma (type)" RELATED [GARD:0007404] synonym: "anaplastic solitary extramedullary plasmacytoma of the cecum (type)" RELATED [GARD:0007404] synonym: "extramedullary anaplastic plasmacytoma (type)" RELATED [GARD:0007404] -synonym: "myeloma - solitary" RELATED [DOID:3721] -synonym: "myeloma, solitary" RELATED [DOID:3721] -synonym: "plasmacytoma" EXACT [NCIT:C9349] -synonym: "solitary myeloma" RELATED [DOID:3721] -synonym: "solitary plasmacytoma" NARROW [DOID:3721, NCIT:C6932, Orphanet:86855] +synonym: "myeloma - solitary" RELATED [] +synonym: "myeloma, solitary" RELATED [] +synonym: "plasmacytoma" EXACT [DOID:3721, NCIT:C9349, Orphanet:86855] +synonym: "solitary myeloma" RELATED [] +synonym: "solitary plasmacytoma" NARROW [] xref: DOID:3721 {source="MONDO:equivalentTo", source="EFO:0006738"} xref: EFO:0006738 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:13446 {source="MONDO:GARD"} @@ -109119,7 +109126,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lung mucoepidermoid cancer" EXACT [NCIT:C45544] -synonym: "lung mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C45544] +synonym: "lung mucoepidermoid carcinoma" EXACT [DOID:0050932, MONDO:patterns/location, NCIT:C45544] synonym: "mucoepidermoid carcinoma of the lung" RELATED [ONCOTREE:LUMEC] xref: DOID:0050932 {source="EFO:0006740", source="MONDO:equivalentTo"} xref: EFO:0006740 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -109155,8 +109162,8 @@ id: MONDO:0005618 name: anxiety disorder def: "A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety." [NCIT:C2878] subset: otar {source="MONDO:OTAR"} -synonym: "anxiety" BROAD [DOID:2030, NCIT:C2878] -synonym: "anxiety disorder" EXACT [NCIT:C2878] +synonym: "anxiety" BROAD [] +synonym: "anxiety disorder" EXACT [DOID:2030, NCIT:C2878] synonym: "anxiety state" EXACT [DOID:2030] xref: DOID:2030 {source="EFO:0006788", source="MONDO:equivalentTo"} xref: EFO:0006788 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -109185,8 +109192,8 @@ subset: ordo_disorder {source="Orphanet:99745"} subset: orphanet_rare {source="Orphanet:99745"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "typhoid" EXACT [DOID:13258] -synonym: "typhoid fever" EXACT [Orphanet:99745] +synonym: "typhoid" EXACT [DOID:13258, icd11.foundation:1528414070, Orphanet:99745] +synonym: "typhoid fever" EXACT [DOID:13258, icd11.foundation:1528414070, NCIT:C35089, Orphanet:99745] synonym: "typhoidal salmonellosis" EXACT [Orphanet:99745] xref: DOID:13258 {source="EFO:0006789", source="MONDO:equivalentTo"} xref: EFO:0006789 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -109231,10 +109238,10 @@ subset: rare synonym: "CAA, familial" RELATED [GARD:0010266] synonym: "cerebral amyloid angiopathy, familial" RELATED [GARD:0010266] synonym: "cerebral amyloid angiopathy, genetic" RELATED [GARD:0010266] -synonym: "dutch hereditary cerebral amyloid angiopathy" EXACT [DOID:9246] +synonym: "dutch hereditary cerebral amyloid angiopathy" EXACT [] synonym: "HCHWA" EXACT ABBREVIATION [Orphanet:85458] synonym: "hereditary cerebral haemorrhage with amyloidosis - Dutch type" EXACT OMO:0003005 [] -synonym: "hereditary cerebral hemorrhage with amyloidosis - Dutch type" EXACT [DOID:9246] +synonym: "hereditary cerebral hemorrhage with amyloidosis - Dutch type" EXACT [] xref: DOID:9246 {source="MONDO:equivalentTo", source="EFO:0006790"} xref: EFO:0006790 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10266 {source="MONDO:GARD"} @@ -109356,7 +109363,7 @@ name: epithelial neoplasm def: "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas." [NCIT:C3709] subset: otar {source="MONDO:OTAR"} synonym: "epithelial neoplasm" EXACT [NCIT:C3709] -synonym: "epithelial neoplasms, NOS" RELATED EXCLUDE [NCIT:C3709] +synonym: "epithelial neoplasms, NOS" RELATED EXCLUDE [] synonym: "epithelioma" EXACT [NCIT:C3709] xref: EFO:0006858 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:277963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -109377,13 +109384,13 @@ synonym: "cancer of craniocervical region" EXACT [MONDO:patterns/cancer] synonym: "cancer of head and neck" EXACT [NCIT:C4013] synonym: "cancer of the head and neck" EXACT [NCIT:C4013] synonym: "craniocervical region cancer" EXACT [MONDO:patterns/location] -synonym: "head and neck cancer" EXACT [NCIT:C4013] -synonym: "head and neck cancer, NOS" RELATED EXCLUDE [NCIT:C4013] +synonym: "head and neck cancer" EXACT [DOID:11934, NCIT:C4013] +synonym: "head and neck cancer, NOS" RELATED EXCLUDE [] synonym: "head and neck malignant neoplasia" EXACT [MONDO:patterns/cancer] -synonym: "head and neck neoplasm" BROAD [DOID:11934, MTH:NOCODE] -synonym: "head and neck tumors" BROAD [DOID:11934] +synonym: "head and neck neoplasm" BROAD [MTH:NOCODE] +synonym: "head and neck tumors" BROAD [] synonym: "head and neck tumours" BROAD OMO:0003005 [] -synonym: "head/neck neoplasm" BROAD [DOID:11934] +synonym: "head/neck neoplasm" BROAD [] synonym: "malignant craniocervical region neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant head and neck neoplasm" EXACT [NCIT:C4013] synonym: "malignant head and neck tumor" EXACT [NCIT:C4013] @@ -109395,7 +109402,7 @@ synonym: "malignant tumor of head and neck" EXACT [NCIT:C4013] synonym: "malignant tumor of the head and neck" EXACT [NCIT:C4013] synonym: "malignant tumour of head and neck" EXACT OMO:0003005 [] synonym: "malignant tumour of the head and neck" EXACT OMO:0003005 [] -synonym: "tumor of head and neck" BROAD EXCLUDE [DOID:11934] +synonym: "tumor of head and neck" BROAD EXCLUDE [] synonym: "tumour of head and neck" BROAD OMO:0003005 [] xref: DOID:11934 {source="MONDO:equivalentTo", source="EFO:0006859"} xref: EFO:0006859 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -109419,12 +109426,12 @@ subset: otar {source="MONDO:OTAR"} synonym: "breast cancer in men" RELATED [GARD:0009312] synonym: "breast cancer, male" RELATED [GARD:0009312] synonym: "carcinoma of Male breast" EXACT [NCIT:C3862] -synonym: "carcinoma of male breast" EXACT [MONDO:patterns/carcinoma] +synonym: "carcinoma of male breast" EXACT [MONDO:patterns/carcinoma, NCIT:C3862] synonym: "carcinoma of the Male breast" EXACT [NCIT:C3862] -synonym: "Male breast cancer" EXACT [NCIT:C3862] -synonym: "male breast cancer" EXACT [NCIT:C3862] +synonym: "Male breast cancer" EXACT [DOID:1614, NCIT:C3862] +synonym: "male breast cancer" EXACT [DOID:1614, NCIT:C3862] synonym: "Male breast carcinoma" EXACT [NCIT:C3862] -synonym: "male breast carcinoma" EXACT [MONDO:patterns/location] +synonym: "male breast carcinoma" EXACT [MONDO:patterns/location, NCIT:C3862] synonym: "malignant neoplasm of male breast" EXACT [DOID:1614] synonym: "neoplasm of male breast" EXACT [DOID:1614] xref: DOID:1614 {source="EFO:0006861", source="MONDO:equivalentTo"} @@ -109451,7 +109458,7 @@ subset: orphanet_rare {source="Orphanet:67043"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Acanthamoeba caused keratitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "keratitis, Acanthamoeba" EXACT [NCIT:C50450] +synonym: "keratitis, Acanthamoeba" EXACT [] xref: DOID:11896 {source="EFO:0007126", source="MONDO:obsolete"} xref: EFO:0007126 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9285 {source="MONDO:GARD"} @@ -109478,7 +109485,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9285/acantha id: MONDO:0005630 name: actinobacillosis def: "A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs." [MESH:D000187] -synonym: "actinobacillosis, NOS" RELATED EXCLUDE [DOID:4974] +synonym: "actinobacillosis, NOS" RELATED EXCLUDE [] xref: DOID:4974 {source="EFO:0007127", source="MONDO:equivalentTo"} xref: MESH:D000187 {source="EFO:0007127", source="DOID:4974", source="MONDO:equivalentTo"} xref: SCTID:16140007 {source="DOID:4974", source="MONDO:equivalentTo"} @@ -109505,16 +109512,16 @@ subset: ordo_disorder {source="Orphanet:457095"} subset: orphanet_rare {source="Orphanet:457095"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Actinomyces infection" EXACT [MONDO:patterns/infectious_disease_by_agent] +synonym: "Actinomyces infection" EXACT [icd11.foundation:1697630330, MONDO:patterns/infectious_disease_by_agent] synonym: "Actinomyces israeli" RELATED [GARD:0005728] synonym: "Actinomycetes" RELATED [GARD:0005728] synonym: "actinomycetoma" RELATED [DOID:8478] -synonym: "actinomycotic infection" RELATED EXCLUDE [DOID:8478] +synonym: "actinomycotic infection" RELATED EXCLUDE [] synonym: "actinomycotic madura foot" EXACT [DOID:8478] synonym: "actinomycotic mycetema" EXACT [DOID:8478] synonym: "actinomycotic mycetoma of foot" EXACT [DOID:8478] synonym: "anaerobic Actinomyces infection" RELATED [GARD:0005728] -synonym: "boil" RELATED [DOID:8478] +synonym: "boil" RELATED [] synonym: "canaliculitis" RELATED [GARD:0005728] synonym: "infections, Actinomyces" RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Keratoactinomycosis" RELATED [GARD:0005728] @@ -109611,8 +109618,8 @@ id: MONDO:0005635 name: adenomyoma def: "A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy." [NCIT:C3726] subset: otar {source="MONDO:OTAR"} -synonym: "adenomyoma" EXACT [NCIT:C3726] -synonym: "adenomyoma (morphologic abnormality)" EXACT [DOID:2609] +synonym: "adenomyoma" EXACT [DOID:2609, NCIT:C3726] +synonym: "adenomyoma (morphologic abnormality)" EXACT [] synonym: "adenomyoma, benign" EXACT [NCIT:C3726] xref: DOID:2609 {source="MONDO:equivalentTo", source="EFO:0007133"} xref: EFO:0007133 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -109630,9 +109637,9 @@ id: MONDO:0005636 name: adenosarcoma def: "A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites." [NCIT:C9474] subset: otar {source="MONDO:OTAR"} -synonym: "adenosarcoma" EXACT [NCIT:C9474] -synonym: "adenosarcoma (morphologic abnormality)" EXACT [DOID:1974] -synonym: "Mullerian adenosarcoma" EXACT [NCIT:C9474] +synonym: "adenosarcoma" EXACT [DOID:1974, NCIT:C9474] +synonym: "adenosarcoma (morphologic abnormality)" EXACT [] +synonym: "Mullerian adenosarcoma" EXACT [DOID:1974, NCIT:C9474] synonym: "mullerian adenosarcoma" EXACT [DOID:1974, NCIT:C9474] synonym: "Müllerian adenosarcoma" EXACT [NCIT:C9474] xref: DOID:1974 {source="MONDO:equivalentTo", source="EFO:0007134"} @@ -109659,10 +109666,10 @@ id: MONDO:0005638 name: agnosia def: "A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes." [NCIT:C84542] subset: otar {source="MONDO:OTAR"} -synonym: "agnosia" EXACT [NCIT:C84542] -synonym: "dyspraxia" RELATED EXCLUDE [DOID:4090] -synonym: "dyspraxia (finding)" RELATED [DOID:4090] -synonym: "dyspraxia syndrome" RELATED [DOID:4090] +synonym: "agnosia" EXACT [DOID:4090, ICD10CM:R48.1, icd11.foundation:1315065296, NCIT:C84542] +synonym: "dyspraxia" RELATED EXCLUDE [] +synonym: "dyspraxia (finding)" RELATED [] +synonym: "dyspraxia syndrome" RELATED [] synonym: "Monomodal visual amnesia" NARROW [GARD:0000008] synonym: "primary visual agnosia" NARROW [GARD:0000008] synonym: "visual amnesia" NARROW [GARD:0000008] @@ -109711,7 +109718,7 @@ name: akinetic mutism def: "A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)" [MESH:D000405] subset: otar {source="MONDO:OTAR"} synonym: "Coma vigilans" EXACT [DOID:4267] -synonym: "Coma vigilans (finding)" EXACT [DOID:4267] +synonym: "Coma vigilans (finding)" EXACT [] xref: DOID:4267 {source="EFO:0007138", source="MONDO:equivalentTo"} xref: EFO:0007138 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1448580674 {source="MONDO:equivalentTo"} @@ -109728,7 +109735,7 @@ name: aleutian mink disease def: "A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible." [MESH:D000453] comment: This disease is considered zoonotic, i.e. able to be transmitted between human and non-human animals (PMID:19961696). In Mondo, we distinguish between human and non-human animal diseases, and we currently do not have a general term to represent a species-agnostic version of the disease. This record is for the non-human version of “aleutian mink disease”. subset: otar {source="MONDO:OTAR"} -synonym: "Aleutian disease" RELATED [DOID:2934] +synonym: "Aleutian disease" RELATED [] synonym: "Aleutian mink disease virus caused disease or disorder" RELATED [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Aleutian mink disease virus disease or disorder" RELATED [https://orcid.org/0000-0002-5002-8648] synonym: "Aleutian mink disease virus infectious disease" RELATED [https://orcid.org/0000-0002-5002-8648] @@ -109749,7 +109756,7 @@ id: MONDO:0005642 name: atopic conjunctivitis def: "Conjunctivitis due to hypersensitivity to various allergens." [MESH:D003233] subset: otar {source="MONDO:OTAR"} -synonym: "allergic conjunctivitis" EXACT [MONDO:ambiguous, NCIT:C34506] +synonym: "allergic conjunctivitis" EXACT [DOID:11204, MONDO:ambiguous, NCIT:C34506] synonym: "allergic conjunctivitis (disease)" EXACT [] synonym: "allergic form of conjunctivitis (disease)" EXACT [MONDO:patterns/allergic_form_of_disease] synonym: "Atopic conjunctivitis" EXACT [NCIT:C34506] @@ -109833,7 +109840,7 @@ synonym: "Ancylostoma caused disease or disorder" EXACT [MONDO:patterns/specific synonym: "Ancylostoma disease or disorder" EXACT [] synonym: "Ancylostoma duodenale infection" RELATED [GARD:0009742] synonym: "Ancylostoma infectious disease" EXACT [] -synonym: "hookworm infection" BROAD [Orphanet:78] +synonym: "hookworm infection" BROAD [] xref: DOID:12841 {source="MONDO:equivalentTo", source="EFO:0007145"} xref: EFO:0007145 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9742 {source="MONDO:GARD"} @@ -109871,7 +109878,7 @@ name: anogenital human papillomavirus infection def: "A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "anogenital Human papilloma Virus infection" EXACT [NCIT:C4820] -synonym: "anogenital Human papilloma Virus infectious disease" EXACT [DOID:11168, NCIT:C4820] +synonym: "anogenital Human papilloma Virus infectious disease" EXACT [DOID:11168] synonym: "anogenital Human Papillomavirus infection" EXACT [NCIT:C4820] synonym: "anogenital venereal wart" EXACT [DOID:11168] synonym: "anogenital Warts" EXACT [DOID:11168] @@ -109908,11 +109915,11 @@ name: aortic valve insufficiency def: "Dysfunction of the aortic valve characterized by incomplete valve closure." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "aortic incompetence" EXACT [DOID:57] -synonym: "aortic insufficiency" EXACT [DOID:57] +synonym: "aortic insufficiency" EXACT [DOID:57, icd11.foundation:1548485475, NCIT:C51223] synonym: "aortic regurgitation" EXACT [DOID:57] synonym: "Corrigan's disease" RELATED [DOID:57] -synonym: "rheumatic aortic insufficiency" EXACT [DOID:57, ICD9CM:395.1] -synonym: "rheumatic aortic regurgitation" EXACT [DOID:57] +synonym: "rheumatic aortic insufficiency" EXACT [DOID:57, ICD10CM:I06.1, ICD9CM:395.1] +synonym: "rheumatic aortic regurgitation" EXACT [DOID:57, ICD10CM:I06.1] synonym: "rheumatic aortic valve insufficiency" EXACT [DOID:57] synonym: "rheumatic aortic valve regurgitation" EXACT [DOID:57] xref: DOID:57 {source="EFO:0007148", source="MONDO:equivalentTo"} @@ -109941,10 +109948,10 @@ id: MONDO:0005649 name: appendicitis def: "Acute inflammation of the vermiform appendix." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "acute appendicitis" NARROW [DOID:8337] +synonym: "acute appendicitis" NARROW [] synonym: "acute appendicitis with generalised peritonitis" NARROW OMO:0003005 [] -synonym: "acute appendicitis with generalized peritonitis" NARROW [DOID:8337] -synonym: "acute appendicitis with peritoneal abscess" NARROW [DOID:8337] +synonym: "acute appendicitis with generalized peritonitis" NARROW [] +synonym: "acute appendicitis with peritoneal abscess" NARROW [] synonym: "inflammation of vermiform appendix" EXACT [] synonym: "vermiform appendix inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:8337 {source="EFO:0007149", source="MONDO:equivalentTo"} @@ -110207,10 +110214,10 @@ synonym: "Babesia caused disease or disorder" EXACT [MONDO:patterns/specific_inf synonym: "Babesia disease or disorder" EXACT [] synonym: "Babesia infectious disease" EXACT [] synonym: "Babesia parasite infection" RELATED [GARD:0005878] -synonym: "babesiasis" EXACT [DOID:9643] +synonym: "babesiasis" EXACT [DOID:9643, icd11.foundation:1947003329] synonym: "Human babesiosis" RELATED [GARD:0005878] -synonym: "infection by Babesia" EXACT [DOID:9643] -synonym: "piroplasmosis" EXACT [DOID:9643] +synonym: "infection by Babesia" EXACT [DOID:9643, icd11.foundation:1947003329] +synonym: "piroplasmosis" EXACT [DOID:9643, icd11.foundation:1947003329] xref: DOID:9643 {source="MONDO:equivalentTo", source="EFO:0007162"} xref: EFO:0007162 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5878 {source="MONDO:GARD"} @@ -110284,8 +110291,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/809/balantid id: MONDO:0005663 name: Barre-Lieou syndrome def: "A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo." [NCIT:P378] -synonym: "Cervicocranial syndrome" EXACT [DOID:6692, ICD9CM:723.2, NCIT:C34411] -synonym: "posterior cervical sympathetic syndrome" EXACT [DOID:6692] +synonym: "Cervicocranial syndrome" EXACT [DOID:6692, ICD10CM:M53.0, ICD9CM:723.2, NCIT:C34411] +synonym: "posterior cervical sympathetic syndrome" EXACT [DOID:6692, ICD10CM:M53.0, NCIT:C34411] xref: DOID:6692 {source="MONDO:equivalentTo", source="EFO:0007165"} xref: ICD10CM:M53.0 {source="MONDO:equivalentTo", source="DOID:6692"} xref: ICD9:723.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -110313,7 +110320,7 @@ synonym: "Bartonella infection" EXACT [NCIT:C84586] synonym: "Bartonella infectious disease" EXACT [DOID:11102] synonym: "bartonelliasis" EXACT [DOID:11102] synonym: "Rochalimaea infection" RELATED [MESH:D001474] -synonym: "Rochalimaea infection (disorder)" EXACT DEPRECATED [DOID:11102, https://medical-dictionary.thefreedictionary.com/Rochalimaea] +synonym: "Rochalimaea infection (disorder)" EXACT DEPRECATED [https://medical-dictionary.thefreedictionary.com/Rochalimaea] synonym: "Rochalimaea infections" RELATED [MESH:D001474] xref: DOID:11102 {source="MONDO:equivalentTo", source="EFO:0007166"} xref: EFO:0007166 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -110343,14 +110350,14 @@ id: MONDO:0005665 name: Bell's palsy def: "Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur." [NCIT:C26769] subset: otar {source="MONDO:OTAR"} -synonym: "Bell palsy" EXACT [DOID:12506, Orphanet:2810] +synonym: "Bell palsy" EXACT [DOID:12506] synonym: "Bell's (facial) palsy" EXACT [DOID:12506] synonym: "facial nerve palsy" EXACT [MONDO:patterns/location, NCIT:C26769] synonym: "facial nerve paralysis" EXACT [NCIT:C26769] -synonym: "facial palsy" RELATED [NCIT:C26769] -synonym: "nerve paralysis, Facial" EXACT [NCIT:C26769] +synonym: "facial palsy" RELATED [] +synonym: "nerve paralysis, Facial" EXACT [] synonym: "palsy of facial nerve" EXACT [MONDO:design_pattern] -synonym: "paralysis Of Facial nerve" EXACT [NCIT:C26769] +synonym: "paralysis Of Facial nerve" EXACT [] xref: DOID:12506 {source="MONDO:equivalentTo", source="EFO:0007167"} xref: EFO:0007167 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G51.0 {source="DOID:12506", source="MONDO:equivalentTo"} @@ -110407,15 +110414,15 @@ subset: orphanet_rare {source="Orphanet:99908"} subset: rare synonym: "Avian hypersensitivity pneumonitis" EXACT [DOID:13891, NCIT:C34425] synonym: "bird breeder's lung" EXACT [DOID:13891] -synonym: "bird fancier lung" EXACT [DOID:13891, Orphanet:99908] -synonym: "bird fancier's lung" EXACT [NCIT:C34425] -synonym: "bird-breeder's lung" RELATED [NCIT:C34425] +synonym: "bird fancier lung" EXACT [DOID:13891, icd11.foundation:912113736, Orphanet:99908] +synonym: "bird fancier's lung" EXACT [DOID:13891, ICD10CM:J67.2, NCIT:C34425] +synonym: "bird-breeder's lung" RELATED [] synonym: "bird-fancier's lung" EXACT [DOID:13891] synonym: "bird-fanciers' lung" EXACT [DOID:13891, ICD9CM:495.2] synonym: "pigeon breeder's lung" EXACT [DOID:13891] -synonym: "pigeon-breeder lung disease" EXACT [MONDO:0020536] +synonym: "pigeon-breeder lung disease" EXACT [MONDO:0020536, Orphanet:99908] synonym: "pigeon-breeder's lung" EXACT [NCIT:C34425] -synonym: "poultry worker's lung" RELATED [DOID:13891] +synonym: "poultry worker's lung" RELATED [] xref: DOID:13891 {source="MONDO:equivalentTo", source="EFO:0007170"} xref: GARD:16924 {source="MONDO:GARD"} xref: ICD10CM:J67.2 {source="MONDO:equivalentTo", source="DOID:13891", source="Orphanet:99908/ntbt", source="Orphanet:99908"} @@ -110502,11 +110509,11 @@ synonym: "Blastomyces dermatitidis caused disease or disorder" EXACT [MONDO:patt synonym: "Blastomyces dermatitidis disease or disorder" EXACT [] synonym: "Blastomyces dermatitidis infection" EXACT [DOID:12663, NCIT:C34429] synonym: "Blastomyces dermatitidis infectious disease" EXACT [] -synonym: "blastomycotic infection" EXACT [DOID:12663, ICD9CM:116] +synonym: "blastomycotic infection" EXACT [DOID:12663, icd11.foundation:1968108845, ICD9CM:116] synonym: "Chicago disease" EXACT [DOID:12663] synonym: "Gilchrist's disease" EXACT [DOID:12663] -synonym: "infection by Blastomyces dermatitidis" EXACT [DOID:12663] -synonym: "North American blastomycosis" EXACT [DOID:12663, MTH:NOCODE] +synonym: "infection by Blastomyces dermatitidis" EXACT [DOID:12663, icd11.foundation:1968108845] +synonym: "North American blastomycosis" EXACT [DOID:12663, icd11.foundation:1968108845, MTH:NOCODE, NCIT:C34429] xref: CSP:1988-4119 {source="DOID:12663"} xref: DOID:12663 {source="MONDO:equivalentTo", source="EFO:0007174"} xref: EFO:0007174 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -110540,7 +110547,7 @@ name: blind loop syndrome def: "A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "bacterial overgrowth syndrome" EXACT [DOID:10606] -synonym: "blind loop syndrome" EXACT [DOID:10606, ICD9CM:579.2] +synonym: "blind loop syndrome" EXACT [DOID:10606, icd11.foundation:1719064637, ICD9CM:579.2, NCIT:C34431] synonym: "stasis (blind loop) syndrome" EXACT [NCIT:C34431] synonym: "stasis syndrome" EXACT [NCIT:C34431] xref: DOID:10606 {source="MONDO:equivalentTo", source="EFO:0007175"} @@ -110572,13 +110579,13 @@ synonym: "benign bone giant cell tumor" EXACT [NCIT:C121932] synonym: "benign bone giant cell tumour" EXACT OMO:0003005 [] synonym: "GCT of bone" EXACT [Orphanet:363976] synonym: "giant cell myeloma" RELATED [DOID:4305] -synonym: "giant cell neoplasm of bone" EXACT [DOID:4305, NCIT:C3738] -synonym: "giant cell tumor of bone" EXACT [MONDO:ambiguous] -synonym: "giant cell tumor of bone (morphologic abnormality)" EXACT [DOID:4305] -synonym: "giant cell tumor of bone NOS (morphologic abnormality)" EXACT [DOID:4305] +synonym: "giant cell neoplasm of bone" EXACT [DOID:4305] +synonym: "giant cell tumor of bone" EXACT [DOID:4305, MONDO:ambiguous, NCIT:C121932, Orphanet:363976] +synonym: "giant cell tumor of bone (morphologic abnormality)" EXACT [] +synonym: "giant cell tumor of bone NOS (morphologic abnormality)" EXACT [] synonym: "giant cell tumor of the bone" EXACT [NCIT:C121932] synonym: "giant cell tumor, benign" EXACT [NCIT:C121932] -synonym: "giant cell tumour of bone" EXACT OMO:0003005 [] +synonym: "giant cell tumour of bone" EXACT OMO:0003005 [DOID:4305] synonym: "giant cell tumour of bone (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "giant cell tumour of bone NOS (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "giant cell tumour of the bone" EXACT OMO:0003005 [] @@ -110619,7 +110626,7 @@ name: borna disease def: "An encephalomyelitis of horses, sheep and cattle caused by borna disease virus." [MESH:D001890] comment: This disease is considered zoonotic, i.e. able to be transmitted between human and non-human animals (PMID:34376142). In Mondo, we distinguish between human and non-human animal diseases, and we currently do not have a general term to represent a species-agnostic version of the disease. This record is for the non-human version of “borna disease”. subset: otar {source="MONDO:OTAR"} -synonym: "enzootic encephalomyelitis" RELATED [DOID:5154] +synonym: "enzootic encephalomyelitis" RELATED [] xref: DOID:5154 {source="MONDO:relatedTo", source="EFO:0007178"} xref: EFO:0007178 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MESH:D001890 {source="MONDO:relatedTo", source="DOID:5154", source="EFO:0007178"} @@ -110683,11 +110690,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99990"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Brill disease" EXACT [Orphanet:99990] +synonym: "Brill disease" EXACT [icd11.foundation:1961511435, Orphanet:99990] synonym: "Brill Zinsser disease" EXACT [DOID:11254] synonym: "Brill's disease" EXACT [DOID:11254, ICD9CM:081.1] synonym: "latent typhus" RELATED [DOID:11254] -synonym: "recrudescent typhus" EXACT [DOID:11254, Orphanet:99990] +synonym: "recrudescent typhus" EXACT [DOID:11254, icd11.foundation:1961511435, Orphanet:99990] synonym: "sporadic typhus" RELATED [DOID:11254] xref: DOID:11254 {source="EFO:0007182", source="MONDO:equivalentTo"} xref: EFO:0007182 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -110715,10 +110722,10 @@ id: MONDO:0005682 name: bronchopneumonia def: "Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "bronchial pneumonia" EXACT [DOID:12375] +synonym: "bronchial pneumonia" EXACT [DOID:12375, icd11.foundation:57624587, NCIT:C26710] synonym: "chest infection - bronchopneumonia" EXACT [DOID:12375] -synonym: "chest infection - unspecified bronchopneumonia" EXACT [DOID:12375] -synonym: "lobular pneumonia" EXACT [DOID:12375] +synonym: "chest infection - unspecified bronchopneumonia" EXACT [] +synonym: "lobular pneumonia" EXACT [DOID:12375, NCIT:C26710] xref: DOID:12375 {source="MONDO:equivalentTo", source="EFO:0007184"} xref: EFO:0007184 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:J18.0 {source="DOID:12375"} @@ -110753,7 +110760,7 @@ synonym: "Malta fever" RELATED [DOID:11077] synonym: "Maltese fever" EXACT [DOID:11077] synonym: "Mediterranean fever" RELATED [DOID:11077] synonym: "Rock fever" RELATED [GARD:0005966] -synonym: "undulant fever" EXACT [DOID:11077] +synonym: "undulant fever" EXACT [DOID:11077, ICD10CM:A23, icd11.foundation:730510331, NCIT:C84602] xref: DOID:11077 {source="MONDO:equivalentTo", source="EFO:0007185"} xref: EFO:0007185 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5966 {source="MONDO:GARD"} @@ -110790,7 +110797,7 @@ name: bulbar polio def: "A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765)" [MESH:D011052] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "bulbar polio" EXACT [MESH:D011052] +synonym: "bulbar polio" EXACT [DOID:9786, MESH:D011052] synonym: "bulbar poliomyelitis" EXACT [DOID:9786, MESH:D011052] synonym: "medullary involvement poliomyelitis" RELATED [MESH:D011052] synonym: "polio, bulbar" RELATED [MESH:D011052] @@ -110868,7 +110875,7 @@ id: MONDO:0005689 name: cannabis dependence def: "Physical and psychological dependence on the drug cannabis." [NCIT:C34445] subset: otar {source="MONDO:OTAR"} -synonym: "cannabis abuse" EXACT [MONDO:0004809] +synonym: "cannabis abuse" EXACT [DOID:9505, MONDO:0004809] synonym: "marijuana abuse" EXACT [DOID:9505] synonym: "marijuana dependence" EXACT [MONDO:0005353] xref: DOID:1849 {source="EFO:0007191", source="MONDO:equivalentTo", source="EFO:0004218", source="MONDO:preferredExternal"} @@ -110904,7 +110911,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Caplan syndrome" EXACT [DOID:10326] synonym: "Caplan's disease" EXACT [DOID:10326] -synonym: "Caplan's syndrome" RELATED [DOID:10326] +synonym: "Caplan's syndrome" RELATED [] synonym: "Caplans syndrome" EXACT [DOID:10326] synonym: "rheumatoid pneumoconiosis" EXACT [DOID:10326] xref: DOID:10326 {source="MONDO:equivalentTo", source="EFO:0007192"} @@ -110946,10 +110953,10 @@ subset: orphanet_rare {source="Orphanet:50839"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bartonellosis due to Bartonella henselae infection" EXACT [Orphanet:50839] -synonym: "benign lymphoreticulosis" EXACT [DOID:11258] +synonym: "benign lymphoreticulosis" EXACT [DOID:11258, icd11.foundation:2003001085] synonym: "Cat scratch disease" RELATED [GARD:0000027] synonym: "cat scratch fever" EXACT [DOID:11258] -synonym: "Cat-scratch fever" EXACT [NCIT:C84620] +synonym: "Cat-scratch fever" EXACT [ICD10CM:A28.1, icd11.foundation:2003001085, NCIT:C84620] synonym: "debre's syndrome" EXACT [DOID:11258] synonym: "debre-Mollaret syndrome" EXACT [DOID:11258] synonym: "Foshay-Mollaret Cat scratch fever" EXACT [DOID:11258] @@ -111015,7 +111022,7 @@ synonym: "caecum neoplasm" EXACT [] synonym: "caecum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "caecum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "caecum tumour" EXACT OMO:0003005 [] -synonym: "cecal benign neoplasm" RELATED [DOID:1517] +synonym: "cecal benign neoplasm" RELATED [] synonym: "cecum neoplasm" EXACT [DOID:1517, NCIT:C4433] synonym: "cecum tumor" EXACT [NCIT:C4433] synonym: "cecum tumour" EXACT OMO:0003005 [] @@ -111085,7 +111092,7 @@ subset: ordo_disorder {source="Orphanet:641396"} subset: orphanet_rare {source="Orphanet:641396"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "central nervous system tuberculosis" EXACT [MONDO:patterns/location] +synonym: "central nervous system tuberculosis" EXACT [DOID:1638, icd11.foundation:729372485, MONDO:patterns/location, Orphanet:641396] synonym: "intracranial tuberculoma" EXACT [DOID:1638] synonym: "tuberculoma of brain" EXACT [DOID:1638] synonym: "tuberculosis of meninges and central nervous system" EXACT [DOID:1638] @@ -111112,9 +111119,9 @@ id: MONDO:0005697 name: cerebral toxoplasmosis def: "Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)" [MESH:D016781] subset: otar {source="MONDO:OTAR"} -synonym: "encephalitis due to acquired toxoplasmosis" RELATED [DOID:10551] -synonym: "meningoencephalitis due to toxoplasmosis" RELATED [DOID:10551] -synonym: "Toxoplasma encephalitis" EXACT [DOID:10551] +synonym: "encephalitis due to acquired toxoplasmosis" RELATED [] +synonym: "meningoencephalitis due to toxoplasmosis" RELATED [] +synonym: "Toxoplasma encephalitis" EXACT [] xref: DOID:10551 {source="MONDO:equivalentObsolete", source="EFO:0007200"} xref: EFO:0007200 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:130.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -111154,8 +111161,8 @@ name: cervicofacial actinomycosis def: "A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses." [MESH:D000197] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cervicofacial actinomycotic infection" RELATED [DOID:12633] -synonym: "lumpy jaw" RELATED [DOID:12633] +synonym: "cervicofacial actinomycotic infection" RELATED [] +synonym: "lumpy jaw" RELATED [] xref: DOID:12633 {source="EFO:0007203", source="MONDO:obsolete"} xref: ICD10CM:A42.2 {source="MONDO:equivalentTo"} xref: icd11.foundation:185601767 {source="MONDO:equivalentTo"} @@ -111174,9 +111181,9 @@ def: "A contagious childhood disorder caused by the varicella zoster virus. It i subset: otar {source="MONDO:OTAR"} synonym: "chicken pox" EXACT [NCIT:C97132] synonym: "chicken pox infection" EXACT [NCIT:C97132] -synonym: "chickenpox" EXACT [NCIT:C97132] -synonym: "Varicella" EXACT [NCIT:C97132] -synonym: "varicella" EXACT [DOID:8659] +synonym: "chickenpox" EXACT [DOID:8659, NCIT:C97132] +synonym: "Varicella" EXACT [DOID:8659, NCIT:C97132] +synonym: "varicella" EXACT [DOID:8659, NCIT:C97132] xref: DOID:8659 {source="EFO:0007204", source="MONDO:equivalentTo"} xref: EFO:0007204 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B01 {source="DOID:8659"} @@ -111203,11 +111210,11 @@ id: MONDO:0005701 name: chlamydia trachomatis infectious disease def: "An infection that is caused by Chlamydia trachomatis." [NCIT:C34463] subset: otar {source="MONDO:OTAR"} -synonym: "chlamydia" RELATED [DOID:11263] +synonym: "chlamydia" RELATED [] synonym: "Chlamydia trachomatis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Chlamydia trachomatis disease or disorder" EXACT [] synonym: "Chlamydia trachomatis infectious disease" EXACT [DOID:11263] -synonym: "chlamydia trachomatis infectious disease" EXACT [] +synonym: "chlamydia trachomatis infectious disease" EXACT [DOID:11263] synonym: "chlamydial disease" EXACT [DOID:11263] synonym: "Chlamydial infection" EXACT [DOID:11263, NCIT:C34463] xref: DOID:11263 {source="EFO:0007205", source="MONDO:equivalentTo"} @@ -111261,7 +111268,7 @@ subset: ordo_disorder {source="Orphanet:658917"} subset: orphanet_rare {source="Orphanet:658917"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Oriental liver fluke disease" EXACT [DOID:13767] +synonym: "Oriental liver fluke disease" EXACT [DOID:13767, ICD10CM:B66.1, icd11.foundation:918986134] xref: DOID:13767 {source="MONDO:equivalentTo", source="EFO:0007210"} xref: EFO:0007210 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B66.1 {source="DOID:13767", source="MONDO:equivalentTo"} @@ -111288,12 +111295,12 @@ synonym: "California disease" EXACT [Orphanet:228123] synonym: "Coccidioides immitis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Coccidioides immitis disease or disorder" EXACT [] synonym: "Coccidioides immitis infectious disease" EXACT [] -synonym: "Coccidioides infection" EXACT [Orphanet:228123] +synonym: "Coccidioides infection" EXACT [icd11.foundation:132287989, Orphanet:228123] synonym: "desert fever" EXACT [Orphanet:228123] synonym: "desert rheumatism" EXACT [Orphanet:228123] synonym: "primary extrapulmonary coccidioidomycosis" EXACT [DOID:13450] synonym: "San Joaquin valley fever" EXACT [Orphanet:228123] -synonym: "Valley fever" EXACT [Orphanet:228123] +synonym: "Valley fever" EXACT [NCIT:C84642, Orphanet:228123] xref: DOID:13450 {source="MONDO:equivalentTo", source="EFO:0007211"} xref: EFO:0007211 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9525 {source="MONDO:GARD"} @@ -111336,7 +111343,7 @@ id: MONDO:0005707 name: coccidiosis def: "A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "coccidiosis (& [intestinal])" EXACT [DOID:2113] +synonym: "coccidiosis (& [intestinal])" EXACT [] synonym: "intestinal coccidiosis" RELATED [DOID:2113] xref: DOID:2113 {source="MONDO:equivalentTo", source="EFO:0007212"} xref: EFO:0007212 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -111366,7 +111373,7 @@ synonym: "Colorado tick fever virus disease or disorder" EXACT [] synonym: "Colorado tick fever virus infectious disease" EXACT [] synonym: "Colorado tick-borne disease" EXACT [Orphanet:83595] synonym: "Mountain fever" EXACT [Orphanet:83595] -synonym: "Mountain tick fever" EXACT [Orphanet:83595] +synonym: "Mountain tick fever" EXACT [icd11.foundation:951357413, Orphanet:83595] synonym: "Tick fever, American mountain" EXACT [DOID:4885] xref: DOID:4885 {source="EFO:0007213", source="MONDO:equivalentTo"} xref: GARD:19042 {source="MONDO:GARD"} @@ -111395,7 +111402,7 @@ def: "An inflammatory process affecting the nasal mucosa, usually caused by viru subset: otar {source="MONDO:OTAR"} synonym: "acute coryza" EXACT [DOID:10459] synonym: "acute nasopharyngitis" EXACT [DOID:10459, NCIT:C34500] -synonym: "acute nasopharyngitis [common cold]" EXACT [DOID:10459, ICD9CM:460] +synonym: "acute nasopharyngitis [common cold]" EXACT [ICD9CM:460] synonym: "acute rhinitis" EXACT [DOID:10459] synonym: "acute viral rhinopharyngitis" EXACT [DOID:10459] synonym: "nasopharyngitis - acute" EXACT [DOID:10459] @@ -111431,7 +111438,7 @@ subset: ordo_disorder {source="Orphanet:168966"} subset: orphanet_rare {source="Orphanet:168966"} subset: rare synonym: "composite Hodgkin and non-Hodgkin lymphoma" EXACT [Orphanet:168966] -synonym: "composite lymphoma" EXACT [NCIT:C38661] +synonym: "composite lymphoma" EXACT [DOID:5820, NCIT:C38661, Orphanet:168966] xref: DOID:5820 {source="EFO:0007215", source="MONDO:equivalentTo"} xref: GARD:20109 {source="MONDO:GARD"} xref: ICDO:9596/3 {source="NCIT:C38661"} @@ -111456,8 +111463,8 @@ subset: rare synonym: "agenesis of hemidiaphragm" RELATED [GARD:0001481] synonym: "CDH" EXACT ABBREVIATION [Orphanet:2140] synonym: "congenital diaphragmatic defect" RELATED [GARD:0001481] -synonym: "congenital diaphragmatic hernia" EXACT CLINGEN_LABEL [] -synonym: "diaphragmatic hernia" BROAD [DOID:3827, NCIT:C34687] +synonym: "congenital diaphragmatic hernia" EXACT CLINGEN_LABEL [DOID:3827, icd11.foundation:1414428936, NCIT:C98893, Orphanet:2140] +synonym: "diaphragmatic hernia" BROAD [] synonym: "unilateral agenesis of diaphragm" RELATED [GARD:0001481] xref: DOID:3827 {source="EFO:0007216", source="MONDO:equivalentTo"} xref: EFO:0007216 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -111499,9 +111506,9 @@ id: MONDO:0005712 name: congenital nystagmus def: "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)" [MESH:D020417] subset: otar {source="MONDO:OTAR"} -synonym: "congenital idiopathic nystagmus" EXACT [Orphanet:651] +synonym: "congenital idiopathic nystagmus" EXACT [] synonym: "congenital pathologic nystagmus" EXACT [MONDO:patterns/congenital] -synonym: "motor congenital nystagmus" EXACT [Orphanet:651] +synonym: "motor congenital nystagmus" EXACT [] synonym: "nystagmus" BROAD [MONDO:ambiguous] synonym: "nystagmus, congenital" EXACT [OMIMPS:310700] xref: DOID:9649 {source="EFO:0007217", source="MONDO:equivalentTo"} @@ -111544,7 +111551,7 @@ subset: ordo_disorder {source="Orphanet:499009"} subset: orphanet_rare {source="Orphanet:499009"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital syphilis" EXACT [MONDO:patterns/congenital] +synonym: "congenital syphilis" EXACT [DOID:9856, ICD10CM:A50, icd11.foundation:587996426, MONDO:patterns/congenital, NCIT:C84649, Orphanet:499009] synonym: "mother-to-child transmission of syphilis" EXACT [Orphanet:499009] synonym: "MTCT of syphilis" EXACT [Orphanet:499009] xref: DOID:9856 {source="MONDO:equivalentTo", source="EFO:0007219"} @@ -111582,12 +111589,12 @@ subset: ordo_disorder {source="Orphanet:858"} subset: orphanet_rare {source="Orphanet:858"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital toxoplasmosis" EXACT [DOID:13336, MONDO:patterns/congenital] +synonym: "congenital toxoplasmosis" EXACT [DOID:13336, ICD10CM:P37.1, icd11.foundation:1194018225, MONDO:patterns/congenital, NCIT:C50503, Orphanet:858] synonym: "mother-to-child transmission of toxoplasmosis" EXACT [Orphanet:858] synonym: "Toxoplasma embryofetopathy" EXACT [Orphanet:858] synonym: "Toxoplasma embryopathy" EXACT [Orphanet:858] synonym: "toxoplasmosis - congen." EXACT [DOID:13336] -synonym: "toxoplasmosis, congenital" EXACT [NCIT:C50503] +synonym: "toxoplasmosis, congenital" EXACT [] xref: DOID:13336 {source="MONDO:equivalentTo", source="EFO:0007220"} xref: EFO:0007220 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:18708 {source="MONDO:GARD"} @@ -111781,7 +111788,7 @@ synonym: "cryptococcus neoformans infection" RELATED [DOID:12053] synonym: "Cryptococcus neoformans infectious disease" EXACT [] synonym: "European cryptococcosis" EXACT [DOID:12053] synonym: "torula" EXACT [DOID:12053] -synonym: "torulosis" EXACT [DOID:12053] +synonym: "torulosis" EXACT [DOID:12053, icd11.foundation:390527954] xref: DOID:12053 {source="EFO:0007229", source="MONDO:equivalentTo"} xref: EFO:0007229 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6218 {source="MONDO:GARD"} @@ -111834,7 +111841,7 @@ synonym: "Cyclospora cayetanensis infectious disease" EXACT [] synonym: "Cyclospora disease or disorder" EXACT [] synonym: "Cyclospora infection" RELATED [GARD:0009528] synonym: "Cyclospora infectious disease" EXACT [] -synonym: "cyclosporosis" EXACT [MONDO:0016212] +synonym: "cyclosporosis" EXACT [icd11.foundation:833744511, MONDO:0016212] synonym: "infection of intestine caused by Cyclospora cayetanensis" EXACT [] synonym: "intestinal infection caused by Cyclospora cayetanensis" EXACT [] xref: DOID:12750 {source="MONDO:equivalentTo", source="EFO:0007230"} @@ -111876,7 +111883,7 @@ def: "A disease involving the diaphragm." [https://orcid.org/0000-0002-6601-2165 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diaphragm disease" EXACT [MONDO:patterns/location] +synonym: "diaphragm disease" EXACT [DOID:10481, MONDO:patterns/location] synonym: "diaphragm disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "diaphragmatic disease" RELATED [] synonym: "diaphragmatic disorder" RELATED [] @@ -111956,10 +111963,10 @@ synonym: "Acanthocheilonemiasis" RELATED [GARD:0000004, NORD:705] synonym: "Dipetalonema infection" EXACT [NCIT:C34540] synonym: "Dipetalonema infections" EXACT [GARD:0000004, NCIT:C34540] synonym: "Dipetalonema infectious disease" EXACT [DOID:14422] -synonym: "dipetalonemiasis" EXACT [GARD:0000004] +synonym: "dipetalonemiasis" EXACT [DOID:14422, GARD:0000004, NCIT:C34540] synonym: "infection by Dipetalonema" EXACT [DOID:14422] synonym: "infection by Dipetalonema perstans" EXACT [DOID:14422] -synonym: "infection by Dipetalonema perstans (disorder) [ambiguous]" EXACT [DOID:14422] +synonym: "infection by Dipetalonema perstans (disorder) [ambiguous]" EXACT [] synonym: "Mansonella perstans" EXACT [GARD:0000004] synonym: "Mansonella perstans caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mansonella perstans disease or disorder" EXACT [] @@ -112020,9 +112027,9 @@ subset: ordo_disorder {source="Orphanet:83594"} subset: orphanet_rare {source="Orphanet:83594"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Eastern equine encephalomyelitis" EXACT [Orphanet:83594] +synonym: "Eastern equine encephalomyelitis" EXACT [icd11.foundation:682536148, Orphanet:83594] synonym: "EEE" RELATED ABBREVIATION [DOID:10841] -synonym: "Neuroinvasive Eastern equine encephalitis virus infection" EXACT [DOID:10841] +synonym: "Neuroinvasive Eastern equine encephalitis virus infection" EXACT [DOID:10841, icd11.foundation:682536148] xref: DOID:10841 {source="MONDO:equivalentTo", source="EFO:0007242"} xref: EFO:0007242 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10821 {source="MONDO:GARD"} @@ -112053,7 +112060,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Ebola" EXACT [NCIT:C36171] synonym: "Ebola fever" EXACT [Orphanet:319218] -synonym: "Ebola virus disease" EXACT [DOID:4325, Orphanet:319218] +synonym: "Ebola virus disease" EXACT [DOID:4325, icd11.foundation:792755706, Orphanet:319218] synonym: "Ebolavirus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Ebolavirus disease or disorder" EXACT [] synonym: "Ebolavirus infectious disease" EXACT [] @@ -112090,20 +112097,20 @@ id: MONDO:0005738 name: echinococcosis def: "A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "echinococcal disease" NARROW [DOID:1496] +synonym: "echinococcal disease" NARROW [] synonym: "echinococciasis" RELATED [] -synonym: "echinococcosis" EXACT [] +synonym: "echinococcosis" EXACT [DOID:1496, ICD10CM:B67, icd11.foundation:1456802165, NCIT:C84682] synonym: "echinococcosis of liver" EXACT [DOID:1496] -synonym: "echinococcosis, unspecified, of liver" NARROW [DOID:1496, ICD9CM:122.8] +synonym: "echinococcosis, unspecified, of liver" NARROW [ICD9CM:122.8] synonym: "Echinococcus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "echinococcus disease" RELATED [] synonym: "Echinococcus disease or disorder" EXACT [] synonym: "Echinococcus infectious disease" EXACT [] -synonym: "hepatic echinococcosis" NARROW [DOID:1496] -synonym: "hydatid disease" NARROW [DOID:1496] -synonym: "hydatidosis" NARROW [DOID:1496] +synonym: "hepatic echinococcosis" NARROW [] +synonym: "hydatid disease" NARROW [] +synonym: "hydatidosis" NARROW [] synonym: "liver echinococcus" EXACT [DOID:1496] -synonym: "pulmonary echinococcosis" NARROW [DOID:1496] +synonym: "pulmonary echinococcosis" NARROW [] xref: DOID:1496 {source="MONDO:equivalentTo", source="EFO:0007245"} xref: EFO:0007245 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B67 {source="DOID:1496", source="MONDO:equivalentTo"} @@ -112177,7 +112184,7 @@ id: MONDO:0005741 name: obsolete egg allergy def: "OBSOLETE. Allergic reaction to eggs that is triggered by the immune system." [MESH:D021181] synonym: "allergy of egg" EXACT [MONDO:patterns/allergy] -synonym: "allergy to eggs" EXACT [DOID:4377] +synonym: "allergy to eggs" EXACT [] synonym: "egg allergic disease" EXACT [] xref: DOID:4377 {source="EFO:0007248", source="MONDO:obsoleteEquivalent"} xref: ICD9:V15.03 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"} @@ -112238,18 +112245,18 @@ subset: orphanet_rare {source="Orphanet:876"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "endodermal sinus neoplasm" EXACT [NCIT:C3011] -synonym: "endodermal sinus tumor" EXACT [NCIT:C3011, Orphanet:876] -synonym: "endodermal sinus tumour" EXACT OMO:0003005 [] -synonym: "hepatoid yolk sac tumor" EXACT [DOID:1911] -synonym: "hepatoid yolk sac tumour" EXACT OMO:0003005 [] -synonym: "infantile embryonal carcinoma" NARROW [DOID:1911] +synonym: "endodermal sinus tumor" EXACT [DOID:1911, NCIT:C3011, Orphanet:876] +synonym: "endodermal sinus tumour" EXACT OMO:0003005 [DOID:1911] +synonym: "hepatoid yolk sac tumor" EXACT [] +synonym: "hepatoid yolk sac tumour" EXACT OMO:0003005 [DOID:1911] +synonym: "infantile embryonal carcinoma" NARROW [] synonym: "yolk Sac neoplasm" EXACT [DOID:1911, NCIT:C3011] -synonym: "yolk Sac tumor" EXACT [NCIT:C3011] -synonym: "yolk sac tumor" EXACT [DOID:1911, MONDO:0019495] +synonym: "yolk Sac tumor" EXACT [DOID:1911, NCIT:C3011, Orphanet:876] +synonym: "yolk sac tumor" EXACT [DOID:1911, MONDO:0019495, NCIT:C3011, Orphanet:876] synonym: "yolk Sac tumor site unspecified" EXACT [NCIT:C3011] synonym: "yolk SAC tumor, malignant" EXACT [NCIT:C3011] -synonym: "yolk Sac tumour" EXACT OMO:0003005 [] -synonym: "yolk Sac tumour site unspecified" EXACT OMO:0003005 [] +synonym: "yolk Sac tumour" EXACT OMO:0003005 [DOID:1911] +synonym: "yolk Sac tumour site unspecified" EXACT OMO:0003005 [NCIT:C3011] xref: DOID:1911 {source="MONDO:equivalentTo", source="EFO:0007252"} xref: EFO:0007252 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:348 {source="MONDO:GARD"} @@ -112295,7 +112302,7 @@ synonym: "Enterobius vermicularis infectious disease" EXACT [] synonym: "oxyuriasis" RELATED [DOID:7457] synonym: "Oxyuris vermicularis infection" EXACT [DOID:7457] synonym: "pinworm infection" RELATED [DOID:7457] -synonym: "threadworm infection" EXACT [DOID:7457] +synonym: "threadworm infection" EXACT [DOID:7457, ICD10CM:B80, icd11.foundation:580098307, NCIT:C128396] xref: DOID:7457 {source="MONDO:equivalentTo", source="EFO:0007254"} xref: EFO:0007254 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B80 {source="DOID:7457", source="MONDO:equivalentTo"} @@ -112366,7 +112373,7 @@ def: "An inflammatory lung disorder characterized by an increased number of eosi subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "eosinophilic pneumonia" EXACT [NCIT:C35150] +synonym: "eosinophilic pneumonia" EXACT [DOID:5870, NCIT:C35150] synonym: "pneumonia, eosinophilic" EXACT [DOID:5870] xref: DOID:5870 {source="EFO:0007257", source="MONDO:equivalentTo"} xref: EFO:0007257 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -112399,9 +112406,9 @@ id: MONDO:0005751 name: epidemic pleurodynia def: "An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses." [MESH:D011000] synonym: "Bamble disease" EXACT [DOID:10882] -synonym: "Bornholm disease" EXACT [DOID:10882] +synonym: "Bornholm disease" EXACT [DOID:10882, ICD10CM:B33.0] synonym: "devil's grip" EXACT [DOID:10882] -synonym: "epidemic myalgia" EXACT [DOID:10882] +synonym: "epidemic myalgia" EXACT [DOID:10882, ICD10CM:B33.0] synonym: "epidemic pleurisy" EXACT [DOID:10882] synonym: "epidemic, myositis" EXACT [DOID:10882] xref: DOID:10882 {source="EFO:0007259", source="MONDO:equivalentTo"} @@ -112446,7 +112453,7 @@ id: MONDO:0005753 name: epiglottitis def: "Inflammation of the epiglottis." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "acute epiglottitis" RELATED EXCLUDE [DOID:9398] +synonym: "acute epiglottitis" RELATED EXCLUDE [] synonym: "acute epiglottitis and supraglottitis" EXACT [DOID:9398] synonym: "inflammation of mucosa of epiglottis" EXACT [] synonym: "mucosa of epiglottis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] @@ -112479,7 +112486,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "epileptic seizures, tonic-clonic" EXACT [DOID:7725] synonym: "grand Mal epilepsy" EXACT [DOID:7725, NCIT:C3022] -synonym: "tonic-clonic epilepsy" EXACT [DOID:7725] +synonym: "tonic-clonic epilepsy" EXACT [DOID:7725, NCIT:C3022] xref: DOID:7725 {source="MONDO:equivalentTo", source="EFO:0007262"} xref: EFO:0007262 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -112539,7 +112546,7 @@ name: eumycotic mycetoma def: "A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "eumycetoma" EXACT [DOID:13078] -synonym: "Madura foot" BROAD [DOID:13078, ICD9CM:039.4] +synonym: "Madura foot" BROAD [ICD9CM:039.4] synonym: "maduromycosis" EXACT [DOID:13078] synonym: "Maduromycosis, mycotic" EXACT [DOID:13078] synonym: "mycotic mycetoma" EXACT [DOID:13078] @@ -112563,8 +112570,8 @@ id: MONDO:0005758 name: eunuchism def: "The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones." [MESH:D005058] subset: otar {source="MONDO:OTAR"} -synonym: "hypergonadotropic hypogonadism (Male)" RELATED [NCIT:C131195] -synonym: "Male hypergonadotropic hypogonadism" RELATED [NCIT:C131195] +synonym: "hypergonadotropic hypogonadism (Male)" RELATED [] +synonym: "Male hypergonadotropic hypogonadism" RELATED [] synonym: "Primary testicular failure" EXACT [NCIT:C131195] xref: DOID:5003 {source="MONDO:equivalentTo", source="EFO:0007266"} xref: EFO:0007266 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -112608,10 +112615,10 @@ synonym: "Bancroftian elephantiasis" EXACT [DOID:12211] synonym: "Bancroftian filarial chyluria" EXACT [DOID:12211] synonym: "Bancroftian filariasis" RELATED [GARD:0003321] synonym: "Elephantiasis" BROAD [NORD:1082] -synonym: "elephantiasis" BROAD [GARD:0003321, NCIT:C128360] +synonym: "elephantiasis" BROAD [GARD:0003321] synonym: "elephantiasis of eyelid" EXACT [DOID:12211] synonym: "eyelid elephantiasis" EXACT [MONDO:patterns/location] -synonym: "lymphatic filariasis" RELATED EXCLUDE [DOID:12211] +synonym: "lymphatic filariasis" RELATED EXCLUDE [] synonym: "Malayi tropical eosinphilia" RELATED [GARD:0003321] synonym: "Wuchereria Bancrofti infection" RELATED [GARD:0003321] synonym: "Wuchereriasis" RELATED [GARD:0003321] @@ -112685,11 +112692,11 @@ subset: ordo_disorder {source="Orphanet:86902"} subset: orphanet_rare {source="Orphanet:86902"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "follicular Dendritic cell sarcoma" EXACT [DOID:6262, NCIT:C9281] -synonym: "follicular dendritic cell sarcoma" EXACT [MONDO:patterns/location] +synonym: "follicular Dendritic cell sarcoma" EXACT [DOID:6262, icd11.foundation:15445528, NCIT:C9281, Orphanet:86902] +synonym: "follicular dendritic cell sarcoma" EXACT [DOID:6262, icd11.foundation:15445528, MONDO:patterns/location, NCIT:C9281, Orphanet:86902] synonym: "follicular Dendritic cell sarcoma/tumor" EXACT [NCIT:C9281] -synonym: "follicular dendritic cell tumor" EXACT [DOID:6262] -synonym: "follicular dendritic cell tumour" EXACT OMO:0003005 [] +synonym: "follicular dendritic cell tumor" EXACT [NCIT:C9281] +synonym: "follicular dendritic cell tumour" EXACT OMO:0003005 [DOID:6262] synonym: "sarcoma of follicular dendritic cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:6262 {source="MONDO:equivalentTo", source="EFO:0007276"} xref: EFO:0007276 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -112770,8 +112777,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "gas bacillus infection" EXACT [DOID:9159] -synonym: "gas gangrene" EXACT [DOID:9159] -synonym: "myonecrosis" EXACT [DOID:9159] +synonym: "gas gangrene" EXACT [DOID:9159, ICD10CM:A48.0] +synonym: "myonecrosis" EXACT [] xref: DOID:9159 {source="EFO:0007279", source="MONDO:equivalentTo"} xref: EFO:0007279 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:A48.0 {source="MONDO:equivalentTo", source="DOID:9159"} @@ -112830,7 +112837,7 @@ subset: ordo_disorder {source="Orphanet:3020"} subset: orphanet_rare {source="Orphanet:3020"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "facial nerve palsy due to herpes zoster infection" EXACT [MONDO:0017606] +synonym: "facial nerve palsy due to herpes zoster infection" EXACT [MONDO:0017606, Orphanet:3020] synonym: "facial nerve palsy due to VZV" EXACT [Orphanet:3020] synonym: "facial nerve paralysis due to VZV" EXACT [Orphanet:3020] synonym: "geniculate neuralgia" EXACT [DOID:9210] @@ -112840,11 +112847,11 @@ synonym: "herpetic geniculate ganglionitis" EXACT [DOID:9210] synonym: "Hunt syndrome (formerly)" RELATED [GARD:0007525] synonym: "Hunt's syndrome (formerly)" RELATED [GARD:0007525] synonym: "nervus intermedius neuralgia" EXACT [DOID:9210] -synonym: "Ramsay Hunt Syndrome" EXACT [NORD:1647] +synonym: "Ramsay Hunt Syndrome" EXACT [NORD:1647, Orphanet:3020] synonym: "Ramsay Hunt syndrome" EXACT [Orphanet:3020] -synonym: "Ramsay Hunt syndrome type 2" RELATED [DOID:9210] +synonym: "Ramsay Hunt syndrome type 2" RELATED [] synonym: "Ramsay Hunt syndrome type 2 (formerly)" RELATED [GARD:0007525] -synonym: "Ramsay Hunt syndrome type II" RELATED [DOID:9210] +synonym: "Ramsay Hunt syndrome type II" RELATED [] synonym: "Ramsey Hunt syndrome" EXACT [DOID:9210] xref: DOID:9210 {source="EFO:0007281", source="MONDO:equivalentTo"} xref: EFO:0007281 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -112884,10 +112891,10 @@ name: genital herpes def: "Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus." [NCIT:C14364] subset: otar {source="MONDO:OTAR"} synonym: "genital herpes simplex" EXACT [DOID:8704] -synonym: "herpes genitalia" EXACT [DOID:8704, MTH:363] +synonym: "herpes genitalia" EXACT [MTH:363] synonym: "herpes genitalis" EXACT [DOID:8704, MTH:328] synonym: "venereal herpes" EXACT [DOID:8704] -synonym: "virus-genital herpes" EXACT [DOID:8704, NCIT:C14364] +synonym: "virus-genital herpes" EXACT [DOID:8704] xref: DOID:8704 {source="MONDO:equivalentTo", source="EFO:0007282"} xref: EFO:0007282 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:054.1 {source="DOID:8704"} @@ -112918,8 +112925,8 @@ id: MONDO:0005771 name: geographic tongue def: "A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "benign migratory glossitis" EXACT [DOID:1455] -synonym: "glossitis areata exfoliativa" EXACT [DOID:1455] +synonym: "benign migratory glossitis" EXACT [DOID:1455, ICD10CM:K14.1, icd11.foundation:1460387786, NCIT:C84588] +synonym: "glossitis areata exfoliativa" EXACT [DOID:1455, ICD10CM:K14.1, icd11.foundation:1460387786] synonym: "Pityriasis linguae" EXACT [DOID:1455] xref: DOID:1455 {source="MONDO:equivalentTo", source="EFO:0007283"} xref: EFO:0007283 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -112997,8 +113004,8 @@ synonym: "Burkholderia mallei caused disease or disorder" EXACT [MONDO:patterns/ synonym: "Burkholderia mallei disease or disorder" EXACT [] synonym: "Burkholderia mallei infection" RELATED [GARD:0009536] synonym: "Burkholderia mallei infectious disease" EXACT [] -synonym: "farcy pipes" EXACT [DOID:13444] -synonym: "infection due to Pseudomonas mallei" EXACT [DOID:13444] +synonym: "farcy pipes" EXACT [DOID:13444, icd11.foundation:1563156715] +synonym: "infection due to Pseudomonas mallei" EXACT [DOID:13444, ICD10CM:A24.0, icd11.foundation:1563156715] xref: DOID:13444 {source="MONDO:equivalentTo", source="EFO:0007286"} xref: EFO:0007286 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:A24.0 {source="MONDO:equivalentTo", source="DOID:13444"} @@ -113030,8 +113037,8 @@ synonym: "G-6-PD variant enzyme deficiency Anaemia" EXACT OMO:0003005 [] synonym: "G-6-PD variant enzyme deficiency Anemia" EXACT [NCIT:C98933] synonym: "G6PD" EXACT ABBREVIATION [NCIT:C98933] synonym: "G6PD deficiency" EXACT [NCIT:C98933] -synonym: "glucose-6-phosphate dehydrogenase deficiency" EXACT [DOID:2862] -synonym: "glucosephosphate dehydrogenase deficiency" EXACT [https://github.com/monarch-initiative/mondo/issues/1117] +synonym: "glucose-6-phosphate dehydrogenase deficiency" EXACT [DOID:2862, NCIT:C98933] +synonym: "glucosephosphate dehydrogenase deficiency" EXACT [DOID:2862, https://github.com/monarch-initiative/mondo/issues/1117] synonym: "inborn error of glucose-6-phosphate dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glucose-6-phosphate dehydrogenase activity disorder" EXACT [] synonym: "rare inborn error of glucose-6-phosphate dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic] @@ -113059,7 +113066,7 @@ name: gnathomiasis def: "An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia)." [NCIT:C128395] subset: otar {source="MONDO:OTAR"} synonym: "Gnathostoma infection" RELATED [GARD:0009286] -synonym: "Gnathostomiasis" EXACT [DOID:11379, ICD9CM:128.1] +synonym: "Gnathostomiasis" EXACT [DOID:11379, ICD10CM:B83.1, ICD9CM:128.1, NCIT:C128395] synonym: "infectious disease by Gnathostoma" EXACT [DOID:11379] xref: DOID:11379 {source="MONDO:equivalentTo", source="EFO:0007289"} xref: EFO:0007289 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -113078,8 +113085,8 @@ id: MONDO:0005777 name: granuloma inguinale def: "A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "donovanosis" EXACT [DOID:9113] -synonym: "granuloma inguinale" EXACT [DOID:9113, NCIT:C3065] +synonym: "donovanosis" EXACT [DOID:9113, ICD10CM:A58, icd11.foundation:764124124] +synonym: "granuloma inguinale" EXACT [DOID:9113, ICD10CM:A58, icd11.foundation:764124124, NCIT:C3065] synonym: "pudendal ulcer" EXACT [DOID:9113] xref: DOID:9113 {source="MONDO:equivalentTo", source="EFO:0007291"} xref: EFO:0007291 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -113184,7 +113191,7 @@ name: hemopericardium def: "An accumulation of blood within the pericardial sac." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "haemopericardium" EXACT [DOID:11482] -synonym: "hemopericardium" EXACT [MONDO:ambiguous] +synonym: "hemopericardium" EXACT [DOID:11482, MONDO:ambiguous] synonym: "hemopericardium (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:11482 {source="MONDO:equivalentTo", source="EFO:0007298"} xref: EFO:0007298 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -113205,11 +113212,11 @@ id: MONDO:0005784 name: hantavirus hemorrhagic fever with renal syndrome def: "A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "hemorrhagic fever with renal syndrome" RELATED [DOID:11266] -synonym: "hemorrhagic fever, Russian" NARROW [DOID:11266] +synonym: "hemorrhagic fever with renal syndrome" RELATED [] +synonym: "hemorrhagic fever, Russian" NARROW [] synonym: "hemorrhagic nephrosonephritis" EXACT [DOID:11266, ICD9CM:078.6] synonym: "HFRS" EXACT ABBREVIATION [DOID:11266, Wikipedia:Hantavirus_hemorrhagic_fever_with_renal_syndrome] -synonym: "Puumala virus nephropathy" NARROW [DOID:11266] +synonym: "Puumala virus nephropathy" NARROW [] xref: DOID:11266 {source="MONDO:equivalentTo", source="EFO:0007299"} xref: ICD10CM:A98.5 {source="MONDO:equivalentTo", source="DOID:11266"} xref: ICD9:078.6 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11266"} @@ -113280,7 +113287,7 @@ def: "Acute inflammation of the liver in humans; caused by hepatitis E virus, a subset: otar {source="MONDO:OTAR"} synonym: "Hepatitis E virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hepatitis E virus hepatitis" EXACT [] -synonym: "hepatitis type E" EXACT [DOID:4411, EFO:0007303, MONDORULE:1] +synonym: "hepatitis type E" EXACT [EFO:0007303, MONDORULE:1] xref: DOID:4411 {source="EFO:0007303", source="MONDO:equivalentTo"} xref: EFO:0007303 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:88376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -113306,12 +113313,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "delta hepatitis" EXACT [DOID:2047] synonym: "HDV" EXACT ABBREVIATION [Orphanet:402823] -synonym: "Hepatitis D" EXACT [NORD:2020] +synonym: "Hepatitis D" EXACT [DOID:2047, NORD:2020] synonym: "Hepatitis D virus" EXACT [Orphanet:402823] -synonym: "hepatitis delta" EXACT [MONDO:0018441] +synonym: "hepatitis delta" EXACT [MONDO:0018441, Orphanet:402823] synonym: "Hepatitis delta virus caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Hepatitis delta virus hepatitis" EXACT [] -synonym: "hepatitis type D" EXACT [DOID:2047, EFO:0007304, MONDORULE:1] +synonym: "hepatitis type D" EXACT [EFO:0007304, MONDORULE:1] xref: DOID:2047 {source="EFO:0007304", source="MONDO:equivalentTo"} xref: EFO:0007304 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:21716 {source="MONDO:GARD"} @@ -113337,9 +113344,9 @@ id: MONDO:0005790 name: hepatitis A virus infection def: "Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "Hepatitis A" EXACT [NCIT:C3096] +synonym: "Hepatitis A" EXACT [DOID:12549, NCIT:C3096] synonym: "Hepatitis A infection" EXACT [NCIT:C3096] -synonym: "hepatitis type A" EXACT [DOID:12549, EFO:0007305, MONDORULE:1] +synonym: "hepatitis type A" EXACT [EFO:0007305, MONDORULE:1] synonym: "viral hepatitis A" RELATED [DOID:12549] synonym: "viral hepatitis, type A" EXACT [DOID:12549] xref: DOID:12549 {source="EFO:0007305", source="MONDO:equivalentTo"} @@ -113584,8 +113591,8 @@ subset: ordo_disorder {source="Orphanet:401"} subset: orphanet_rare {source="Orphanet:401"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dwarf tapeworm infection" EXACT [DOID:10074] -synonym: "hymenolepiasis" EXACT [NCIT:C84768] +synonym: "dwarf tapeworm infection" EXACT [DOID:10074, ICD10CM:B71.0, icd11.foundation:2028864113] +synonym: "hymenolepiasis" EXACT [DOID:10074, ICD10CM:B71.0, icd11.foundation:2028864113, NCIT:C84768, Orphanet:401] synonym: "Hymenolepis infectious disease" EXACT [DOID:10074] synonym: "Hymenolepsis infection" RELATED [GARD:0002787] xref: DOID:10074 {source="EFO:0007317", source="MONDO:equivalentTo"} @@ -113624,7 +113631,7 @@ subset: rare synonym: "hyperinsulinemia hypoglycemia" EXACT [OMIMPS:256450] synonym: "hyperinsulinemic hypoglycemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "islet cell hyperplasia" EXACT [DOID:13317] -synonym: "nesidioblastosis" RELATED [DOID:13317] +synonym: "nesidioblastosis" RELATED [] synonym: "persistent hyperinsulinemia hypoglycemia of infancy" EXACT [DOID:13317] xref: DOID:13317 {source="MONDO:equivalentTo", source="EFO:0007318"} xref: EFO:0007318 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -113656,7 +113663,7 @@ name: hyperprolactinemia def: "Abnormally high level of prolactin in the blood." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "hyperprolactinaemia" EXACT [MESH:D006966] -synonym: "hyperprolactinemia" EXACT [MONDO:ambiguous] +synonym: "hyperprolactinemia" EXACT [ICD10CM:E22.1, MONDO:ambiguous] synonym: "hyperprolactinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hyperprolactinemias" RELATED [MESH:D006966] synonym: "hypersecretion syndrome, prolactin" RELATED [MESH:D006966] @@ -113715,19 +113722,19 @@ synonym: "hypural pharynx cancer" EXACT [MONDO:patterns/location] synonym: "malignant hypopharyngeal neoplasm" EXACT [NCIT:C7190] synonym: "malignant hypopharyngeal tumor" EXACT [DOID:8533, NCIT:C7190] synonym: "malignant hypopharyngeal tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of hypopharynx" EXACT [DOID:8533, ICD9CM:148, NCIT:C7190] -synonym: "malignant neoplasm of hypopharynx NOS" RELATED EXCLUDE [DOID:8533] -synonym: "malignant neoplasm of hypopharynx, NOS" RELATED EXCLUDE [DOID:8533] -synonym: "malignant neoplasm of ill-defined sites within the lip and oral cavity" EXACT [DOID:8533] -synonym: "malignant neoplasm of other specified hypopharyngeal site" EXACT [DOID:8533] -synonym: "malignant neoplasm of other specified sites of hypopharynx" EXACT [DOID:8533] -synonym: "malignant neoplasm of posterior hypopharyngeal wall" EXACT [DOID:8533] -synonym: "malignant neoplasm of posterior wall of hypopharynx" EXACT [DOID:8533, MTH:U001377] +synonym: "malignant neoplasm of hypopharynx" EXACT [DOID:8533, ICD10CM:C13, ICD9CM:148, NCIT:C7190] +synonym: "malignant neoplasm of hypopharynx NOS" RELATED EXCLUDE [] +synonym: "malignant neoplasm of hypopharynx, NOS" RELATED EXCLUDE [] +synonym: "malignant neoplasm of ill-defined sites within the lip and oral cavity" EXACT [] +synonym: "malignant neoplasm of other specified hypopharyngeal site" EXACT [] +synonym: "malignant neoplasm of other specified sites of hypopharynx" EXACT [] +synonym: "malignant neoplasm of posterior hypopharyngeal wall" EXACT [] +synonym: "malignant neoplasm of posterior wall of hypopharynx" EXACT [MTH:U001377] synonym: "malignant neoplasm of the hypopharynx" EXACT [NCIT:C7190] synonym: "malignant tumor of hypopharynx" EXACT [DOID:8533, NCIT:C7190] -synonym: "malignant tumor of posterior wall of hypopharynx" EXACT [DOID:8533] +synonym: "malignant tumor of posterior wall of hypopharynx" EXACT [] synonym: "malignant tumor of the hypopharynx" EXACT [NCIT:C7190] -synonym: "malignant tumour of hypopharynx" EXACT OMO:0003005 [] +synonym: "malignant tumour of hypopharynx" EXACT OMO:0003005 [DOID:8533] synonym: "malignant tumour of posterior wall of hypopharynx" EXACT OMO:0003005 [] synonym: "malignant tumour of the hypopharynx" EXACT OMO:0003005 [] synonym: "pharynx cancer of hypopharynx" EXACT [MONDO:design_pattern] @@ -113776,7 +113783,7 @@ name: inclusion conjunctivitis def: "Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery." [NCIT:C116817] subset: otar {source="MONDO:OTAR"} synonym: "adult inclusion conjunctivitis" EXACT [DOID:13800] -synonym: "Chlamydial conjunctivitis" EXACT [DOID:13800] +synonym: "Chlamydial conjunctivitis" EXACT [DOID:13800, ICD10CM:A74.0, NCIT:C116817] synonym: "inclusion blennorrhoea" EXACT [DOID:13800] synonym: "inclusion blenorrhea" EXACT [DOID:13800] synonym: "neonatal Chlamydia conjunctivitis" EXACT [NCIT:C116817] @@ -113821,8 +113828,8 @@ name: infectious mononucleosis def: "A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "Filatov's disease" EXACT [DOID:8568] -synonym: "Gammaherpesviral mononucleosis" EXACT [DOID:8568] -synonym: "glandular fever" EXACT [DOID:8568] +synonym: "Gammaherpesviral mononucleosis" EXACT [DOID:8568, icd11.foundation:760139952] +synonym: "glandular fever" EXACT [DOID:8568, icd11.foundation:760139952] synonym: "Mono" EXACT [NCIT:C34726] synonym: "monocytic angina" EXACT [DOID:8568] synonym: "mononucleosis" EXACT [DOID:8568] @@ -113868,7 +113875,7 @@ id: MONDO:0005812 name: influenza def: "An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "flu" EXACT [DOID:8469] +synonym: "flu" EXACT [DOID:8469, NCIT:C53482] synonym: "influenza infection" EXACT [MONDO:0005162] synonym: "influenza with non-respiratory manifestation" EXACT [DOID:8469] synonym: "Influenza with other manifestations" EXACT [DOID:8469, ICD9CM:487.8] @@ -113912,9 +113919,9 @@ def: "A neoplastic proliferation of spindle to ovoid cells which show phenotypic subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "interdigitating cell sarcoma" BROAD [DOID:7848, NCIT:C9282] +synonym: "interdigitating cell sarcoma" BROAD [] synonym: "interdigitating cell sarcoma/tumor" EXACT [NCIT:C9282] -synonym: "interdigitating Dendritic cell sarcoma" EXACT [NCIT:C9282] +synonym: "interdigitating Dendritic cell sarcoma" EXACT [DOID:7848, icd11.foundation:214592620, NCIT:C9282] synonym: "interdigitating Dendritic cell sarcoma/tumor" EXACT [NCIT:C9282] xref: DOID:7848 {source="MONDO:equivalentTo", source="EFO:0007329"} xref: EFO:0007329 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -113943,7 +113950,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "bowel cancer" EXACT [NCIT:C4572] synonym: "cancer of intestine" EXACT [MONDO:patterns/cancer, NCIT:C4572] synonym: "cancer of the intestine" EXACT [NCIT:C4572] -synonym: "intestinal cancer" EXACT [NCIT:C4572] +synonym: "intestinal cancer" EXACT [DOID:10155, NCIT:C4572] synonym: "intestinal neoplasms, malignant" EXACT [NCIT:C4572] synonym: "intestinal tumors, malignant" EXACT [NCIT:C4572] synonym: "intestine cancer" EXACT [MONDO:patterns/location] @@ -113989,24 +113996,24 @@ subset: gard_rare {source="GARD:22052", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:506052"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "endocrine pancreas cancer" NARROW [DOID:1799] +synonym: "endocrine pancreas cancer" NARROW [] synonym: "endocrine pancreas neoplasm" EXACT [] synonym: "endocrine pancreas neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "endocrine pancreas tumor" EXACT [MONDO:patterns/neoplasm] synonym: "endocrine pancreas tumour" EXACT OMO:0003005 [] -synonym: "islet cell neoplasm" NARROW [DOID:1799] -synonym: "islet cell tumor" NARROW [DOID:1799] +synonym: "islet cell neoplasm" NARROW [] +synonym: "islet cell tumor" NARROW [] synonym: "Islet cell tumors" NARROW [GARD:0007311] synonym: "islet cell tumour" NARROW OMO:0003005 [] synonym: "Islet cell tumours" NARROW OMO:0003005 [] synonym: "Islet of Langerhans tumor" RELATED [GARD:0007311] synonym: "Islet of Langerhans tumour" RELATED OMO:0003005 [] -synonym: "malignant pancreatic endocrine tumor" NARROW [DOID:1799, NCIT:C3770] +synonym: "malignant pancreatic endocrine tumor" NARROW [] synonym: "malignant pancreatic endocrine tumour" NARROW OMO:0003005 [] synonym: "malignant tumor of endocrine pancreas" EXACT [DOID:1799] -synonym: "malignant tumour of endocrine pancreas" EXACT OMO:0003005 [] +synonym: "malignant tumour of endocrine pancreas" EXACT OMO:0003005 [DOID:1799] synonym: "neoplasm of endocrine pancreas" EXACT [MONDO:patterns/neoplasm] -synonym: "neuroendocrine neoplasm of pancreas" RELATED [Orphanet:506052] +synonym: "neuroendocrine neoplasm of pancreas" RELATED [] synonym: "pancreatic endocrine neoplasm" EXACT [DOID:1799, NCIT:C27031] synonym: "pancreatic NEN" EXACT [Orphanet:506052] synonym: "pancreatic neuroendocrine neoplasm" EXACT [NCIT:C27031, Orphanet:506052] @@ -114158,9 +114165,9 @@ id: MONDO:0005821 name: late congenital syphilis subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "juvenile neurosyphilis" RELATED [DOID:10039] +synonym: "juvenile neurosyphilis" RELATED [] synonym: "juvenile syphilis" RELATED [] -synonym: "late congenital syphilis" EXACT [] +synonym: "late congenital syphilis" EXACT [DOID:10039, icd11.foundation:1685932952] synonym: "late congenital syphilis (2 years or more)" EXACT [] synonym: "late congenital syphilis, symptomatic (2 years or more)" RELATED [] xref: DOID:10039 {source="EFO:0007339", source="MONDO:equivalentTo"} @@ -114214,8 +114221,8 @@ subset: ordo_group_of_disorders {source="Orphanet:600832"} subset: orphanet_rare {source="Orphanet:549"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Legionella infection" EXACT [DOID:10458] -synonym: "Legionnaires disease" EXACT [Orphanet:549] +synonym: "Legionella infection" EXACT [DOID:10458, icd11.foundation:390042715, Orphanet:600832] +synonym: "Legionnaires disease" EXACT [icd11.foundation:424434722, Orphanet:549] xref: DOID:10458 {source="MONDO:equivalentTo", source="EFO:0007342"} xref: EFO:0007342 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:22419 {source="MONDO:GARD"} @@ -114246,9 +114253,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "infection by Legionella pneumophilia" EXACT [DOID:10457] synonym: "Legionella" EXACT [DOID:10457] -synonym: "Legionella pneumonia" EXACT [NCIT:C128339] +synonym: "Legionella pneumonia" EXACT [DOID:10457, NCIT:C128339] synonym: "legionnaire's disease" EXACT [DOID:10457] -synonym: "Legionnaires' Disease" EXACT [NORD:1354] +synonym: "Legionnaires' Disease" EXACT [DOID:10457, NCIT:C128339, NORD:1354] xref: DOID:10457 {source="MONDO:equivalentTo", source="EFO:0007343"} xref: EFO:0007343 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:A48.1 {source="DOID:10457"} @@ -114284,7 +114291,7 @@ subset: rare synonym: "cane cutter's fever" RELATED [] synonym: "cane-cutter fever" RELATED [GARD:0007881] synonym: "canicola fever" RELATED [GARD:0007881] -synonym: "fort Bragg fever" EXACT [DOID:2297] +synonym: "fort Bragg fever" EXACT [DOID:2297, icd11.foundation:751399056] synonym: "harvest fever" RELATED [] synonym: "hemorrhagic jaundice" RELATED [GARD:0007881] synonym: "Icterohemorrhagic fever" RELATED [GARD:0007881] @@ -114293,10 +114300,10 @@ synonym: "japanese autumnal fever" RELATED [] synonym: "Leptospira caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Leptospira disease or disorder" EXACT [] synonym: "Leptospira infectious disease" EXACT [] -synonym: "leptospirosis" EXACT [] +synonym: "leptospirosis" EXACT [DOID:2297, ICD10CM:A27, icd11.foundation:751399056, NCIT:C84825, Orphanet:509] synonym: "leptospirosis icterohaemorrhagica" EXACT [DOID:2297] synonym: "mud fever" RELATED [GARD:0007881] -synonym: "nanukayami fever" EXACT [DOID:2297] +synonym: "nanukayami fever" EXACT [DOID:2297, icd11.foundation:751399056] synonym: "Queensland fever" RELATED [] synonym: "rat catcher's yellows" EXACT [DOID:2297] synonym: "rice-field fever" RELATED [GARD:0007881] @@ -114307,7 +114314,7 @@ synonym: "Stuttgart disease" RELATED [GARD:0007881] synonym: "swamp fever" RELATED [GARD:0007881] synonym: "swineherd's disease" RELATED [GARD:0007881] synonym: "Weil disease" RELATED [GARD:0007881] -synonym: "Weil's disease" RELATED EXCLUDE [DOID:2297] +synonym: "Weil's disease" RELATED EXCLUDE [] xref: DOID:2297 {source="MONDO:equivalentTo", source="EFO:0007344"} xref: EFO:0007344 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7881 {source="MONDO:GARD"} @@ -114377,7 +114384,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "diabete, lipoatrophic" EXACT [MESH:D003923] synonym: "diabetes, lipoatrophic" RELATED [MESH:D003923] synonym: "lipoatrophic diabete" RELATED [MESH:D003923] -synonym: "lipoatrophic diabetes" EXACT [MESH:D003923] +synonym: "lipoatrophic diabetes" EXACT [DOID:11712, MESH:D003923] synonym: "lipoatrophic diabetes mellitus" RELATED [MESH:D003923] xref: DOID:11712 {source="EFO:0007346", source="MONDO:equivalentTo"} xref: EFO:0007346 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -114401,8 +114408,8 @@ subset: ordo_disorder {source="Orphanet:533"} subset: orphanet_rare {source="Orphanet:533"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "infection by Listeria monocytogenes" EXACT [DOID:11573] -synonym: "Listeria infection" EXACT [DOID:11573] +synonym: "infection by Listeria monocytogenes" EXACT [DOID:11573, icd11.foundation:419706488] +synonym: "Listeria infection" EXACT [DOID:11573, icd11.foundation:419706488, NCIT:C82994, Orphanet:533] synonym: "Listeria monocytogenes caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Listeria monocytogenes disease or disorder" EXACT [] synonym: "Listeria monocytogenes infection" RELATED [GARD:0006915] @@ -114527,25 +114534,25 @@ name: lymphatic system disorder def: "A disease involving the lymphatic part of lymphoid system." [https://orcid.org/0000-0002-6601-2165] comment: Editor note: check alignment to anatomy, consider lymphoid system disease subset: otar {source="MONDO:OTAR"} -synonym: "adenopathy" RELATED [DOID:75] +synonym: "adenopathy" RELATED [] synonym: "disease of lymphatic part of lymphoid system" EXACT [MONDO:patterns/location_top] -synonym: "disease of lympoid system" RELATED [DOID:75] +synonym: "disease of lympoid system" RELATED [] synonym: "disease or disorder of lymphatic part of lymphoid system" EXACT [] synonym: "disorder of lymph node and lymphatics" EXACT [DOID:75] synonym: "disorder of lymphatic part of lymphoid system" EXACT [MONDO:patterns/location_top] synonym: "disorder of lymphatic system" EXACT [DOID:75] -synonym: "disorder of lymphoid system" RELATED [DOID:75] -synonym: "glands, swollen" EXACT [NCIT:C50764] -synonym: "lymphadenopathy" NARROW [NCIT:C50764] -synonym: "lymphangiopathy" NARROW [DOID:75] -synonym: "lymphangiopathy, NOS" RELATED EXCLUDE [DOID:75] +synonym: "disorder of lymphoid system" RELATED [] +synonym: "glands, swollen" EXACT [] +synonym: "lymphadenopathy" NARROW [] +synonym: "lymphangiopathy" NARROW [] +synonym: "lymphangiopathy, NOS" RELATED EXCLUDE [] synonym: "lymphatic disease" EXACT [DOID:75, MTH:461, MTH:NOCODE] -synonym: "lymphatic disorder" EXACT [DOID:75, NCIT:C3206] +synonym: "lymphatic disorder" EXACT [DOID:75] synonym: "lymphatic part of lymphoid system disease" EXACT [MONDO:patterns/location] synonym: "lymphatic part of lymphoid system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "lympoid system disease" RELATED [DOID:75] +synonym: "lympoid system disease" RELATED [] synonym: "swollen gland" EXACT [NCIT:C50764] -synonym: "swollen glands" EXACT [NCIT:C50764] +synonym: "swollen glands" EXACT [] xref: DOID:75 {source="MONDO:equivalentTo"} xref: EFO:0007352 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:I80-I89 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -114610,17 +114617,17 @@ subset: ordo_disorder {source="Orphanet:144"} subset: orphanet_rare {source="Orphanet:144"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "coca 1" RELATED EXCLUDE [DOID:3883] +synonym: "coca 1" RELATED EXCLUDE [] synonym: "familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494] synonym: "Hereditary colorectal endometrial cancer syndrome" EXACT [NCIT:C8494] synonym: "hereditary defective mismatch repair syndrome" EXACT [DOID:3883, NCIT:C8494] synonym: "Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494] -synonym: "hereditary non-polyposis colon cancer type 1" EXACT [DOID:3883] +synonym: "hereditary non-polyposis colon cancer type 1" EXACT [] synonym: "Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" EXACT [NCIT:C8494] -synonym: "hereditary nonpolyposis colorectal cancer" BROAD [DOID:3883] -synonym: "hereditary nonpolyposis colorectal neoplasm" BROAD [DOID:3883] -synonym: "HNPCC - hereditary nonpolyposis colon cancer" BROAD [DOID:3883] -synonym: "Lynch syndrome" EXACT CLINGEN_LABEL [] +synonym: "hereditary nonpolyposis colorectal cancer" BROAD [] +synonym: "hereditary nonpolyposis colorectal neoplasm" BROAD [] +synonym: "HNPCC - hereditary nonpolyposis colon cancer" BROAD [] +synonym: "Lynch syndrome" EXACT CLINGEN_LABEL [DOID:3883, NCIT:C8494, Orphanet:144] xref: DOID:3883 {source="MONDO:equivalentTo", source="EFO:0007354"} xref: GARD:9905 {source="MONDO:GARD"} xref: ICD10CM:D48.9 {source="Orphanet:144/attributed", source="Orphanet:144/ntbt", source="Orphanet:144"} @@ -114649,33 +114656,33 @@ def: "A primary or metastatic malignant neoplasm involving the male reproductive subset: otar {source="MONDO:OTAR"} synonym: "cancer of male reproductive organ" EXACT [MONDO:patterns/cancer] synonym: "male genital cancer" EXACT [DOID:3856] -synonym: "male genital neoplasm" BROAD [DOID:3856] -synonym: "Male reprod. system cancer, NOS" RELATED EXCLUDE [NCIT:C8561] -synonym: "male reproductive organ cancer" EXACT [MONDO:patterns/location] -synonym: "Male reproductive system cancer, NOS" RELATED EXCLUDE [NCIT:C8561] -synonym: "male reproductive system neoplasm" BROAD [DOID:3856] +synonym: "male genital neoplasm" BROAD [] +synonym: "Male reprod. system cancer, NOS" RELATED EXCLUDE [] +synonym: "male reproductive organ cancer" EXACT [DOID:3856, MONDO:patterns/location] +synonym: "Male reproductive system cancer, NOS" RELATED EXCLUDE [] +synonym: "male reproductive system neoplasm" BROAD [] synonym: "malignant male reproductive organ neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant Male reproductive system neoplasm" EXACT [NCIT:C8561] synonym: "malignant Male reproductive system tumor" EXACT [NCIT:C8561] synonym: "malignant Male reproductive system tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of male genital organ" EXACT [DOID:3856] synonym: "malignant neoplasm of male genital organ or tract" EXACT [DOID:3856] -synonym: "malignant neoplasm of male genital organ, NOS" RELATED EXCLUDE [DOID:3856] -synonym: "malignant neoplasm of male genital organ, site unspecified" EXACT [DOID:3856, ICD9CM:187.9] +synonym: "malignant neoplasm of male genital organ, NOS" RELATED EXCLUDE [] +synonym: "malignant neoplasm of male genital organ, site unspecified" EXACT [ICD9CM:187.9] synonym: "malignant neoplasm of male genital organs" EXACT [DOID:3856] synonym: "malignant neoplasm of male reproductive organ" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of Male reproductive system" EXACT [NCIT:C8561] synonym: "malignant neoplasm of the Male reproductive system" EXACT [NCIT:C8561] synonym: "malignant tumor of male genital organ" EXACT [DOID:3856, MTH:U001031] -synonym: "malignant tumor of Male reproductive system" EXACT [NCIT:C8561] +synonym: "malignant tumor of Male reproductive system" EXACT [DOID:3856, NCIT:C8561] synonym: "malignant tumor of male reproductive system" EXACT [DOID:3856, NCIT:C8561] synonym: "malignant tumor of the Male reproductive system" EXACT [NCIT:C8561] synonym: "malignant tumour of male genital organ" EXACT OMO:0003005 [] synonym: "malignant tumour of Male reproductive system" EXACT OMO:0003005 [] synonym: "malignant tumour of male reproductive system" EXACT OMO:0003005 [] synonym: "malignant tumour of the Male reproductive system" EXACT OMO:0003005 [] -synonym: "neoplasm of male genital organ" BROAD [DOID:3856] -synonym: "tumor of male reproductive system" BROAD [DOID:3856, NCIT:C3054] +synonym: "neoplasm of male genital organ" BROAD [] +synonym: "tumor of male reproductive system" BROAD [] synonym: "tumour of male reproductive system" BROAD OMO:0003005 [] xref: DOID:3856 {source="MONDO:equivalentTo", source="EFO:0007355"} xref: EFO:0007355 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -114711,10 +114718,10 @@ synonym: "cancer of mandible" EXACT [MONDO:patterns/cancer] synonym: "malignant mandible neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of inferior maxilla" EXACT [DOID:2338] synonym: "malignant neoplasm of lower jaw bone" EXACT [DOID:2338, NCIT:C35178] -synonym: "malignant neoplasm of mandible" EXACT [DOID:2338, MONDO:patterns/cancer] +synonym: "malignant neoplasm of mandible" EXACT [MONDO:patterns/cancer, NCIT:C35178] synonym: "mandible cancer" EXACT [DOID:2338, MONDO:patterns/location] -synonym: "mandibular neoplasm" BROAD [DOID:2338] -synonym: "neoplasm of mandible" BROAD [DOID:2338] +synonym: "mandibular neoplasm" BROAD [] +synonym: "neoplasm of mandible" BROAD [] xref: DOID:2338 {source="EFO:0007356", source="MONDO:equivalentTo"} xref: EFO:0007356 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C41.1 {source="DOID:2338"} @@ -114742,7 +114749,7 @@ subset: orphanet_rare {source="Orphanet:2459"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Mansonella perstans infections" RELATED [GARD:0008216] -synonym: "Mansonellosis" EXACT [Orphanet:2459] +synonym: "Mansonellosis" EXACT [icd11.foundation:1504434405, Orphanet:2459] xref: DOID:1081 {source="EFO:0007357", source="MONDO:equivalentTo"} xref: EFO:0007357 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:8216 {source="MONDO:GARD"} @@ -114782,8 +114789,8 @@ synonym: "bone of upper jaw neoplasm" EXACT [] synonym: "bone of upper jaw neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "bone of upper jaw tumor" EXACT [MONDO:patterns/neoplasm] synonym: "bone of upper jaw tumour" EXACT OMO:0003005 [] -synonym: "maxillary cancer" RELATED [DOID:4618] -synonym: "maxillary neoplasm" EXACT [DOID:4618] +synonym: "maxillary cancer" RELATED [] +synonym: "maxillary neoplasm" EXACT [] synonym: "neoplasm of bone of upper jaw" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of bone of upper jaw" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of bone of upper jaw" EXACT OMO:0003005 [] @@ -114824,7 +114831,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "cancer of mediastinum" EXACT [MONDO:patterns/cancer, NCIT:C3549] synonym: "cancer of the mediastinum" EXACT [NCIT:C3549] synonym: "malignant mediastinal neoplasm" EXACT [NCIT:C3549] -synonym: "malignant mediastinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3549] +synonym: "malignant mediastinal neoplasm NOS" RELATED EXCLUDE [] synonym: "malignant mediastinal tumor" EXACT [NCIT:C3549] synonym: "malignant mediastinal tumour" EXACT OMO:0003005 [] synonym: "malignant mediastinum neoplasm" EXACT [MONDO:patterns/cancer] @@ -114834,12 +114841,12 @@ synonym: "malignant tumor of mediastinum" EXACT [NCIT:C3549] synonym: "malignant tumor of the mediastinum" EXACT [NCIT:C3549] synonym: "malignant tumour of mediastinum" EXACT OMO:0003005 [] synonym: "malignant tumour of the mediastinum" EXACT OMO:0003005 [] -synonym: "mediastinal cancer" EXACT [NCIT:C3549] -synonym: "mediastinal tumor" BROAD [DOID:5559, NCIT:C3221] +synonym: "mediastinal cancer" EXACT [DOID:5559, NCIT:C3549] +synonym: "mediastinal tumor" BROAD [] synonym: "mediastinal tumour" BROAD OMO:0003005 [] synonym: "mediastinum cancer" EXACT [DOID:5559, MONDO:patterns/location] -synonym: "neoplasm of mediastinum" RELATED EXCLUDE [DOID:5559] -synonym: "tumor of mediastinum" BROAD [DOID:5559] +synonym: "neoplasm of mediastinum" RELATED EXCLUDE [] +synonym: "tumor of mediastinum" BROAD [] synonym: "tumour of mediastinum" BROAD OMO:0003005 [] xref: DOID:5559 {source="MONDO:equivalentTo", source="EFO:0007362"} xref: EFO:0007362 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -114867,7 +114874,7 @@ name: chalazion def: "An eyelid cyst caused by the blockage of a meibomian gland." [NCIT:C26717] subset: otar {source="MONDO:OTAR"} synonym: "chalazia" RELATED [MESH:D017043] -synonym: "chalazion" EXACT [DOID:9903, ICD9CM:373.2, NCIT:C26717] +synonym: "chalazion" EXACT [DOID:9903, ICD10CM:H00.1, icd11.foundation:777918741, ICD9CM:373.2, NCIT:C26717] synonym: "cyst, Meibomian" RELATED [MESH:D017043] synonym: "Meibomian cyst" RELATED [MESH:D017043] synonym: "meibomian gland lipogranuloma" EXACT [DOID:9903] @@ -114919,12 +114926,12 @@ subset: ordo_disorder {source="Orphanet:2552"} subset: orphanet_rare {source="Orphanet:2552"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "infection by Microspora" EXACT [DOID:4271] +synonym: "infection by Microspora" EXACT [DOID:4271, icd11.foundation:1021483422] synonym: "infection by Microsporea" EXACT [DOID:4271] synonym: "infection by Microsporida" EXACT [DOID:4271] synonym: "Microsporidia caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Microsporidia disease or disorder" EXACT [] -synonym: "Microsporidia infection" EXACT [NCIT:C84891] +synonym: "Microsporidia infection" EXACT [icd11.foundation:1021483422, NCIT:C84891] synonym: "Microsporidia infectious disease" EXACT [] synonym: "Microsporidiasis" RELATED [GARD:0003655] xref: DOID:4271 {source="MONDO:equivalentTo", source="EFO:0007366"} @@ -114973,9 +114980,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute miliary tuberculosis" EXACT [DOID:9861, ICD9CM:018.0] -synonym: "disseminated tuberculosis" EXACT [DOID:9861] -synonym: "generalised tuberculosis" EXACT OMO:0003005 [] -synonym: "generalized tuberculosis" EXACT [DOID:9861] +synonym: "disseminated tuberculosis" EXACT [DOID:9861, ICD10CM:A19, icd11.foundation:861638547] +synonym: "generalised tuberculosis" EXACT OMO:0003005 [icd11.foundation:861638547] +synonym: "generalized tuberculosis" EXACT [DOID:9861, ICD10CM:A19] synonym: "tuberculosis miliaris disseminata" EXACT [DOID:9861] xref: DOID:9861 {source="EFO:0007368", source="MONDO:equivalentTo"} xref: EFO:0007368 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -115002,8 +115009,8 @@ id: MONDO:0005849 name: obsolete milk allergic reaction def: "OBSOLETE. Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase." [MESH:D016269] comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: -none -synonym: "milk allergic reaction" EXACT [DOID:4376] -synonym: "milk allergy" RELATED [DOID:4376] +synonym: "milk allergic reaction" EXACT [] +synonym: "milk allergy" RELATED [] xref: DOID:4376 {source="EFO:0007369", source="MONDO:obsoleteEquivalent"} xref: MESH:D016269 {source="DOID:4376", source="EFO:0007369", source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeAllergy"} @@ -115045,9 +115052,9 @@ subset: orphanet_rare {source="Orphanet:98919"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cranial variant of GBS" EXACT [Orphanet:98919] -synonym: "cranial variant of Guillain-Barre syndrome" EXACT [Orphanet:98919] +synonym: "cranial variant of Guillain-Barre syndrome" EXACT [] synonym: "cranial variant of Guillain-Barré syndrome" EXACT [Orphanet:98919] -synonym: "Fisher syndrome" EXACT [MESH:D019846, Orphanet:98919] +synonym: "Fisher syndrome" EXACT [MESH:D019846, NCIT:C116958, Orphanet:98919] synonym: "Fisher's syndrome" EXACT [DOID:12889] synonym: "Guillain Barre syndrome, Miller Fisher variant" EXACT [MESH:D019846] synonym: "Guillain-Barre syndrome, Miller Fisher variant" EXACT [MESH:D019846] @@ -115082,7 +115089,7 @@ name: mitral valve stenosis def: "Narrowing of the left atrioventricular mitral orifice." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "mitral stenoses" RELATED [MESH:D008946] -synonym: "mitral stenosis" EXACT [DOID:1754, MESH:D008946] +synonym: "mitral stenosis" EXACT [DOID:1754, icd11.foundation:2115139779, MESH:D008946] synonym: "mitral valve stenoses" RELATED [MESH:D008946] synonym: "stenoses, mitral" RELATED [MESH:D008946] synonym: "stenoses, mitral valve" RELATED [MESH:D008946] @@ -115113,17 +115120,17 @@ def: "A malignant neoplasm composed of a carcinomatous epithelial component and subset: otar {source="MONDO:OTAR"} synonym: "malignant mixed cancer" EXACT [DOID:154] synonym: "malignant mixed neoplasm" EXACT [DOID:154, MONDO:0006293, NCIT:C3729] -synonym: "malignant mixed tumor" EXACT [DOID:154, MESH:D018198, NCIT:C3729] +synonym: "malignant mixed tumor" EXACT [MESH:D018198, NCIT:C3729] synonym: "malignant mixed tumors" RELATED [MESH:D018198] synonym: "malignant mixed tumour" EXACT OMO:0003005 [] synonym: "malignant mixed tumours" RELATED OMO:0003005 [] -synonym: "mixed cell type cancer" BROAD [DOID:154] -synonym: "mixed neoplasm" BROAD [DOID:154] +synonym: "mixed cell type cancer" BROAD [] +synonym: "mixed neoplasm" BROAD [] synonym: "mixed neoplasm, malignant" EXACT [MONDO:patterns/malignant] -synonym: "mixed tumor" BROAD [DOID:154, NCIT:C6930] +synonym: "mixed tumor" BROAD [] synonym: "mixed tumor, malignant" EXACT [DOID:154] -synonym: "mixed tumor, malignant (morphologic abnormality)" EXACT [DOID:154] -synonym: "mixed tumor, malignant, NOS (morphologic abnormality)" EXACT [DOID:154] +synonym: "mixed tumor, malignant (morphologic abnormality)" EXACT [] +synonym: "mixed tumor, malignant, NOS (morphologic abnormality)" EXACT [] synonym: "mixed tumors, malignant" RELATED [MESH:D018198] synonym: "mixed tumour" BROAD OMO:0003005 [] synonym: "tumor, malignant mixed" RELATED [MESH:D018198] @@ -115154,9 +115161,9 @@ subset: orphanet_rare {source="Orphanet:809"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "connective tissue disease overlap syndrome" EXACT [DOID:3492] -synonym: "MCTD" EXACT ABBREVIATION [Orphanet:809] +synonym: "MCTD" EXACT ABBREVIATION [NCIT:C84892, Orphanet:809] synonym: "mixed collagen vascular disease" EXACT [DOID:3492] -synonym: "sharp syndrome" EXACT [Orphanet:809] +synonym: "sharp syndrome" EXACT [icd11.foundation:891652224, Orphanet:809] xref: DOID:3492 {source="MONDO:equivalentTo", source="EFO:0007374"} xref: EFO:0007374 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7051 {source="MONDO:GARD"} @@ -115235,9 +115242,9 @@ id: MONDO:0005858 name: mucinous cystadenocarcinoma def: "An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung." [NCIT:C3776] subset: otar {source="MONDO:OTAR"} -synonym: "mucinous cystadenocarcinoma" EXACT [NCIT:C3776] -synonym: "mucinous cystadenocarcinoma (morphologic abnormality)" EXACT [DOID:3603] -synonym: "mucinous cystadenocarcinoma NOS (morphologic abnormality)" EXACT [DOID:3603] +synonym: "mucinous cystadenocarcinoma" EXACT [DOID:3603, NCIT:C3776] +synonym: "mucinous cystadenocarcinoma (morphologic abnormality)" EXACT [] +synonym: "mucinous cystadenocarcinoma NOS (morphologic abnormality)" EXACT [] synonym: "Pseudomucinous adenocarcinoma" EXACT [NCIT:C3776] synonym: "Pseudomucinous cystadenocarcinoma" EXACT [DOID:3603, NCIT:C3776] xref: DOID:3603 {source="EFO:0007378", source="MONDO:equivalentTo"} @@ -115260,9 +115267,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "American cutaneous leishmaniasis" EXACT [DOID:9155, NCIT:C34769] -synonym: "American mucocutaneous leishmaniasis" EXACT [DOID:9155] +synonym: "American mucocutaneous leishmaniasis" EXACT [DOID:9155, icd11.foundation:1942095878] synonym: "cutaneous leishmaniasis, American" EXACT [DOID:9155, ICD9CM:085.4] -synonym: "mucocutaneous leishmaniasis, (American)" EXACT [DOID:9155, ICD9CM:085.5] +synonym: "mucocutaneous leishmaniasis, (American)" EXACT [ICD9CM:085.5] synonym: "mucocutaneous leishmaniasis, American" EXACT [DOID:9155] synonym: "New World cutaneous leishmaniasis" EXACT [DOID:9155] xref: DOID:9155 {source="EFO:0007379", source="MONDO:equivalentTo"} @@ -115293,7 +115300,7 @@ def: "A type of drug-resistant tuberculosis that is resistant to both rifampicin subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDR-TB" EXACT [NCIT:C128415] +synonym: "MDR-TB" EXACT ABBREVIATION [NCIT:C128415] synonym: "multidrug-resistant TB" EXACT [NCIT:C128415] xref: DOID:401 {source="MONDO:equivalentTo", source="EFO:0007381"} xref: EFO:0007381 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -115309,11 +115316,11 @@ is_a: MONDO:0041806 {source="https://orcid.org/0000-0001-5208-3432"} ! drug-resi id: MONDO:0005862 name: obsolete multiple chemical sensitivity def: "OBSOLETE. An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)" [MESH:D018777] -synonym: "20th century disease" RELATED [DOID:4661] -synonym: "chemical AIDS" RELATED [DOID:4661] -synonym: "environmental illness" RELATED [DOID:4661] -synonym: "idiopathic environmental illness" EXACT [DOID:4661, Wikipedia:Multiple_chemical_sensitivity] -synonym: "total allergy syndrome" EXACT [DOID:4661] +synonym: "20th century disease" RELATED [] +synonym: "chemical AIDS" RELATED [] +synonym: "environmental illness" RELATED [] +synonym: "idiopathic environmental illness" EXACT [Wikipedia:Multiple_chemical_sensitivity] +synonym: "total allergy syndrome" EXACT [] xref: DOID:4661 {source="MONDO:obsoleteEquivalent", source="EFO:0007382"} xref: MESH:D018777 {source="DOID:4661", source="MONDO:obsoleteEquivalent", source="EFO:0007382"} xref: SCTID:702772003 {source="DOID:4661", source="MONDO:obsoleteEquivalent"} @@ -115389,7 +115396,7 @@ synonym: "disseminated infection with mycobacterium avium complex" RELATED [GARD synonym: "DMAC" RELATED ABBREVIATION [GARD:0009236] synonym: "infection due to Mycobacterium intracellulare" EXACT [DOID:2755] synonym: "MAC disease" EXACT [DOID:2755] -synonym: "Mycobacterium avium Complex" EXACT [DOID:2755] +synonym: "Mycobacterium avium Complex" EXACT [DOID:2755, NCIT:C36197] synonym: "Mycobacterium avium complex caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Mycobacterium avium complex disease or disorder" EXACT [] synonym: "Mycobacterium avium complex infectious disease" EXACT [] @@ -115415,12 +115422,12 @@ id: MONDO:0005867 name: Mycoplasma pneumoniae pneumonia def: "Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar." [MESH:D011019] subset: otar {source="MONDO:OTAR"} -synonym: "cold agglutinin positive pneumonia" EXACT [] +synonym: "cold agglutinin positive pneumonia" EXACT [DOID:13276] synonym: "Mycoplasma pneumonia" EXACT [DOID:13276] -synonym: "Mycoplasmal pneumonia" EXACT [] -synonym: "pneumonia due to Eaton's agent" EXACT [] -synonym: "pneumonia due to Mycoplasma pneumoniae" EXACT [ICD9CM:483.0] -synonym: "pneumonia due to Mycoplasma pneumoniae (disorder)" EXACT [] +synonym: "Mycoplasmal pneumonia" EXACT [DOID:13276, NCIT:C122526] +synonym: "pneumonia due to Eaton's agent" EXACT [DOID:13276] +synonym: "pneumonia due to Mycoplasma pneumoniae" EXACT [DOID:13276, ICD9CM:483.0] +synonym: "pneumonia due to Mycoplasma pneumoniae (disorder)" EXACT [DOID:13276] xref: DOID:13276 {source="MONDO:equivalentTo", source="MONDO:obsolete", source="EFO:0007387"} xref: EFO:0007387 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:J15.7 {source="DOID:13276"} @@ -115532,14 +115539,14 @@ synonym: "malignant tumor of nervous system" EXACT [NCIT:C4788] synonym: "malignant tumor of the nervous system" EXACT [NCIT:C4788] synonym: "malignant tumour of nervous system" EXACT OMO:0003005 [] synonym: "malignant tumour of the nervous system" EXACT OMO:0003005 [] -synonym: "neoplasm of nervous system" BROAD EXCLUDE [DOID:3093] -synonym: "nervous system cancer" EXACT [MONDO:patterns/location] -synonym: "nervous system neoplasm" BROAD [DOID:3093] +synonym: "neoplasm of nervous system" BROAD EXCLUDE [] +synonym: "nervous system cancer" EXACT [DOID:3093, MONDO:patterns/location] +synonym: "nervous system neoplasm" BROAD [] synonym: "nervous system neoplasms, malignant" EXACT [NCIT:C4788] -synonym: "neural neoplasm" BROAD [DOID:3093] -synonym: "neural tumor" BROAD [DOID:3093] +synonym: "neural neoplasm" BROAD [] +synonym: "neural tumor" BROAD [] synonym: "neural tumour" BROAD OMO:0003005 [] -synonym: "tumor of the nervous system" BROAD [DOID:3093, NCIT:C3268] +synonym: "tumor of the nervous system" BROAD [] synonym: "tumour of the nervous system" BROAD OMO:0003005 [] xref: DOID:3093 {source="MONDO:equivalentTo", source="EFO:0007392"} xref: EFO:0007392 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -115698,7 +115705,7 @@ comment: Consider obsoleting as represents a finding subset: otar {source="MONDO:OTAR"} synonym: "antepartum oligohydramnios" EXACT [DOID:12215] synonym: "delivered oligohydramnios" EXACT [DOID:12215] -synonym: "oligohydramnios" EXACT [MONDO:ambiguous] +synonym: "oligohydramnios" EXACT [DOID:12215, icd11.foundation:262953341, MONDO:ambiguous] synonym: "oligohydramnios (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "oligohydramnios - delivered" EXACT [DOID:12215] xref: DOID:12215 {source="EFO:0007401", source="MONDO:equivalentTo"} @@ -115755,7 +115762,7 @@ id: MONDO:0005884 name: opisthorchiasis def: "Infection with flukes of the genus Opisthorchis." [MESH:D009889] subset: otar {source="MONDO:OTAR"} -synonym: "infection by Opisthorchis" EXACT [DOID:13768] +synonym: "infection by Opisthorchis" EXACT [DOID:13768, icd11.foundation:1401769984] synonym: "infection due to cat liver fluke" RELATED [GARD:0009746] synonym: "infection due to Opisthorchis (felineus)(viverrini)" RELATED [GARD:0009746] xref: DOID:13768 {source="EFO:0007404", source="MONDO:equivalentTo"} @@ -115809,7 +115816,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "candidiasis of mouth" EXACT [DOID:14262, ICD9CM:112.0] synonym: "mouth candidiasis" EXACT [MONDO:patterns/location] synonym: "oral moniliasis" EXACT [DOID:14262] -synonym: "thrush" BROAD [DOID:14262, NCIT:C28137] +synonym: "thrush" BROAD [] synonym: "thrush, oral" EXACT [DOID:14262] xref: DOID:14262 {source="MONDO:equivalentTo", source="EFO:0007406"} xref: EFO:0007406 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -115856,7 +115863,7 @@ subset: ordo_disorder {source="Orphanet:660053"} subset: orphanet_rare {source="Orphanet:660053"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "psittacosis" EXACT [DOID:11262] +synonym: "psittacosis" EXACT [DOID:11262, Orphanet:660053] xref: DOID:11262 {source="MONDO:equivalentTo", source="EFO:0007410"} xref: EFO:0007410 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:A70 {source="DOID:11262"} @@ -115951,24 +115958,24 @@ subset: ordo_disorder {source="Orphanet:506098"} subset: orphanet_rare {source="Orphanet:506098"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoma of endocrine pancreas" EXACT [MONDO:patterns/carcinoma] +synonym: "carcinoma of endocrine pancreas" EXACT [DOID:1798, MONDO:patterns/carcinoma] synonym: "carcinoma, islet cell, malignant" EXACT [NCIT:C3770] synonym: "endocrine pancreas carcinoma" EXACT [MONDO:patterns/location] synonym: "high grade pancreatic neuroendocrine carcinoma" EXACT [NCIT:C3770] synonym: "high-grade pancreatic neuroendocrine carcinoma" EXACT [NCIT:C3770] synonym: "islet cell cancer" EXACT [NCIT:C3770] -synonym: "islet cell carcinoma" EXACT [NCIT:C3770] -synonym: "islet cell carcinoma (morphologic abnormality)" EXACT [DOID:1798] +synonym: "islet cell carcinoma" EXACT [DOID:1798, NCIT:C3770] +synonym: "islet cell carcinoma (morphologic abnormality)" EXACT [] synonym: "malignant islet cell tumor" EXACT [NCIT:C3770] synonym: "malignant islet cell tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of islets of Langerhans" EXACT [DOID:1798] +synonym: "malignant neoplasm of islets of Langerhans" EXACT [DOID:1798, ICD10CM:C25.4] synonym: "malignant pancreatic endocrine tumor" EXACT [NCIT:C3770] synonym: "malignant pancreatic endocrine tumour" EXACT OMO:0003005 [] -synonym: "neuroendocrine carcinoma of pancreas" RELATED [Orphanet:506098] -synonym: "pancreatic endocrine cancer" EXACT [NCIT:C3770] -synonym: "pancreatic endocrine carcinoma" EXACT [NCIT:C3770] +synonym: "neuroendocrine carcinoma of pancreas" RELATED [] +synonym: "pancreatic endocrine cancer" EXACT [] +synonym: "pancreatic endocrine carcinoma" EXACT [DOID:1798, NCIT:C3770] synonym: "pancreatic NEC" EXACT [NCIT:C3770, Orphanet:506098] -synonym: "pancreatic NEC G3" EXACT [NCIT:C3770] +synonym: "pancreatic NEC G3" EXACT [] synonym: "Pancreatic Neuroendocrine cancer" EXACT [NCIT:C3770] synonym: "pancreatic neuroendocrine carcinoma" EXACT [DOID:1798, NCIT:C3770, Orphanet:506098] synonym: "poorly differentiated pancreatic endocrine carcinoma" EXACT [NCIT:C3770] @@ -116049,14 +116056,14 @@ subset: ordo_disorder {source="Orphanet:658913"} subset: orphanet_rare {source="Orphanet:658913"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "infection by Paragonimus" EXACT [DOID:10699] -synonym: "lung fluke disease" EXACT [DOID:10699] -synonym: "lung fluke infection" EXACT [DOID:10699] +synonym: "infection by Paragonimus" EXACT [DOID:10699, icd11.foundation:1422824299] +synonym: "lung fluke disease" EXACT [DOID:10699, ICD10CM:B66.4, icd11.foundation:1422824299] +synonym: "lung fluke infection" EXACT [DOID:10699, icd11.foundation:1422824299] synonym: "Paragonimus westermani caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Paragonimus westermani disease or disorder" EXACT [] synonym: "Paragonimus westermani infection" RELATED [GARD:0009815] synonym: "Paragonimus westermani infectious disease" EXACT [] -synonym: "pulmonary paragonimiasis" EXACT [DOID:10699] +synonym: "pulmonary paragonimiasis" EXACT [DOID:10699, icd11.foundation:1422824299] xref: DOID:10699 {source="EFO:0007418", source="MONDO:equivalentTo"} xref: EFO:0007418 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9815 {source="MONDO:GARD"} @@ -116106,7 +116113,7 @@ synonym: "fungal nail infection" EXACT [DOID:13117] synonym: "infected nailfold" EXACT [DOID:13117] synonym: "onychia and paronychia of finger" EXACT [DOID:13117] synonym: "onychia and paronychia of toe" EXACT [DOID:13117] -synonym: "paronychia" EXACT [MONDO:ambiguous] +synonym: "paronychia" EXACT [DOID:13117, MONDO:ambiguous, NCIT:C79702] synonym: "paronychia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "paronychia inflammation" RELATED [DOID:13117] xref: DOID:13117 {source="MONDO:equivalentTo", source="EFO:0007421"} @@ -116175,7 +116182,7 @@ def: "Infections with bacteria of the genus pasteurella." [MESH:D010326] subset: otar {source="MONDO:OTAR"} synonym: "Pasteurella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Pasteurella disease or disorder" EXACT [] -synonym: "Pasteurella infection" EXACT [DOID:11055] +synonym: "Pasteurella infection" EXACT [DOID:11055, icd11.foundation:304649065] synonym: "Pasteurella infectious disease" EXACT [DOID:11055] xref: DOID:11055 {source="EFO:0007424", source="MONDO:equivalentTo"} xref: EFO:0007424 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -116199,10 +116206,10 @@ id: MONDO:0005902 name: obsolete peanut allergic reaction def: "OBSOLETE. Allergic reaction to peanuts that is triggered by the immune system." [MESH:D021183] comment: Reason of obsoletion: out of scope - MONDO:excludeAllergy. Term to consider: -none -synonym: "allergy to peanuts" EXACT [DOID:4378] +synonym: "allergy to peanuts" EXACT [] synonym: "nut allergic reaction of pigmented ciliary epithelial cell" EXACT [MONDO:design_pattern] -synonym: "peanut allergic reaction" EXACT [DOID:4378] -synonym: "peanut allergy" RELATED [DOID:4378] +synonym: "peanut allergic reaction" EXACT [] +synonym: "peanut allergy" RELATED [] synonym: "pigmented ciliary epithelial cell nut allergic reaction" EXACT [MONDO:patterns/location] xref: DOID:4378 {source="EFO:0007425", source="MONDO:obsoleteEquivalent"} xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -116243,9 +116250,9 @@ name: pericarditis def: "An inflammatory process affecting the pericardium." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "inflammation of pericardium" EXACT [] -synonym: "pericarditis" EXACT [MONDO:ambiguous] +synonym: "pericarditis" EXACT [DOID:1787, icd11.foundation:1296696944, MONDO:ambiguous, NCIT:C34915] synonym: "pericarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "pericardium inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] +synonym: "pericardium inflammation" EXACT [icd11.foundation:1296696944, MONDO:patterns/inflammatory_disease_by_site] xref: DOID:1787 {source="EFO:0007427", source="MONDO:equivalentTo"} xref: EFO:0007427 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0001701 {source="MONDO:otherHierarchy"} @@ -116288,7 +116295,7 @@ id: MONDO:0005906 name: peritonsillar abscess def: "An abscess that develops in the space surrounding one or both palatine tonsils." [NCIT:C128322] subset: otar {source="MONDO:OTAR"} -synonym: "quinsy" EXACT [NCIT:C128322] +synonym: "quinsy" EXACT [ICD10CM:J36, icd11.foundation:1782446047, NCIT:C128322] xref: DOID:12765 {source="EFO:0007429", source="MONDO:obsolete"} xref: EFO:0007429 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:J36 {source="MONDO:equivalentTo"} @@ -116425,8 +116432,8 @@ id: MONDO:0005913 name: phlebotomus fever def: "Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii." [MESH:D010217] subset: otar {source="MONDO:OTAR"} -synonym: "pappataci fever" EXACT [DOID:11360] -synonym: "Sandfly fever" EXACT [DOID:11360] +synonym: "pappataci fever" EXACT [DOID:11360, ICD10CM:A93.1] +synonym: "Sandfly fever" EXACT [DOID:11360, ICD10CM:A93.1] synonym: "Sandfly-borne arboviral fever" EXACT [DOID:11360] synonym: "Sandfly-borne Bunyavirus fever" EXACT [DOID:11360] synonym: "Sandfly-borne phleboviral disease" EXACT [DOID:11360] @@ -116533,7 +116540,7 @@ synonym: "diseases, placental" RELATED [MESH:D010922] synonym: "disorder of placenta" EXACT [MONDO:patterns/location_top] synonym: "disorder, placenta" RELATED [MESH:D010922] synonym: "disorders, placenta" RELATED [MESH:D010922] -synonym: "placenta disease" EXACT [MESH:D010922, MONDO:patterns/location] +synonym: "placenta disease" EXACT [DOID:780, MESH:D010922, MONDO:patterns/location, NCIT:C26857] synonym: "placenta disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "placenta diseases" EXACT [NCIT:C26857] synonym: "placenta disorder" EXACT [MESH:D010922, NCIT:C26857] @@ -116582,7 +116589,7 @@ id: MONDO:0005918 name: placenta praevia def: "Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor." [MESH:D010923] subset: otar {source="MONDO:OTAR"} -synonym: "placenta praevia" EXACT [MESH:D010923] +synonym: "placenta praevia" EXACT [DOID:11060, MESH:D010923] synonym: "placenta previa" EXACT [NCIT:C26858] xref: DOID:11060 {source="MONDO:equivalentTo", source="EFO:0007442"} xref: EFO:0007442 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -116633,11 +116640,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "falciparum malaria" EXACT [DOID:14067, NCIT:C34798] -synonym: "falciparum malaria [malignant tertian]" EXACT [DOID:14067, ICD9CM:084.0] +synonym: "falciparum malaria [malignant tertian]" EXACT [ICD9CM:084.0] synonym: "malaria fever, subtertian" EXACT [DOID:14067] synonym: "malignant tertian fever" EXACT [DOID:14067] -synonym: "malignant tertian fever (finding)" EXACT [DOID:14067] -synonym: "Plasmodium falciparum malaria, unspecified" EXACT [DOID:14067] +synonym: "malignant tertian fever (finding)" EXACT [] +synonym: "Plasmodium falciparum malaria, unspecified" EXACT [] xref: DOID:14067 {source="EFO:0007444", source="MONDO:equivalentTo"} xref: EFO:0007444 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B50 {source="DOID:14067"} @@ -116688,10 +116695,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "pearly disease" EXACT [DOID:106] synonym: "pleura tuberculosis" EXACT [MONDO:patterns/location] -synonym: "tuberculosis of pleura" EXACT [DOID:106] -synonym: "tuberculous pleurisy" EXACT [DOID:106, ICD9CM:012.0] +synonym: "tuberculosis of pleura" EXACT [DOID:106, NCIT:C26898] +synonym: "tuberculous pleurisy" EXACT [DOID:106, ICD10CM:A15.6, ICD9CM:012.0] synonym: "tuberculous pleurisy in primary progressive tuberculosis" EXACT [DOID:106] -synonym: "tuberculous pleuritis" EXACT [DOID:106] +synonym: "tuberculous pleuritis" EXACT [DOID:106, NCIT:C26898] xref: DOID:106 {source="EFO:0007446", source="MONDO:equivalentTo"} xref: EFO:0007446 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:A15.6 {source="DOID:106", source="MONDO:equivalentTo"} @@ -116783,7 +116790,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "postphlebetic syndrome with inflammation" EXACT [DOID:2364] synonym: "postphlebetic syndrome with ulcer" EXACT [DOID:2364] synonym: "postphlebetic syndrome with ulcer and inflammation" EXACT [DOID:2364] -synonym: "postphlebitic syndrome" EXACT [DOID:2364] +synonym: "postphlebitic syndrome" EXACT [DOID:2364, ICD10CM:I87.0] synonym: "venous stress disorder" EXACT [DOID:2364] xref: DOID:2364 {source="MONDO:equivalentTo", source="EFO:0007452"} xref: EFO:0007452 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -116816,8 +116823,8 @@ synonym: "post Natal depression" RELATED [MESH:D019052] synonym: "post partum depression" RELATED [MESH:D019052] synonym: "post-Natal depression" RELATED [MESH:D019052] synonym: "post-partum depression" RELATED [MESH:D019052] -synonym: "postnatal depression" EXACT [DOID:9478, MESH:D019052] -synonym: "postpartum depression" EXACT [MESH:D019052] +synonym: "postnatal depression" EXACT [DOID:9478, MESH:D019052, NCIT:C92852] +synonym: "postpartum depression" EXACT [DOID:9478, MESH:D019052, NCIT:C92852] xref: DOID:9478 {source="MONDO:equivalentTo", source="EFO:0007453"} xref: EFO:0007453 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F53 {source="MONDO:relatedTo", source="DOID:9478"} @@ -116873,7 +116880,7 @@ synonym: "blastoma of lung" EXACT [DOID:4765, NCIT:C3732] synonym: "blastoma of the lung" EXACT [NCIT:C3732] synonym: "lung blastoma" EXACT [MONDO:patterns/location, NCIT:C3732] synonym: "Pneumoblastoma" EXACT [NCIT:C3732, Orphanet:64741] -synonym: "pulmonary blastoma" EXACT [NCIT:C3732] +synonym: "pulmonary blastoma" EXACT [DOID:4765, NCIT:C3732, Orphanet:64741] xref: DOID:4765 {source="EFO:0007458", source="MONDO:equivalentTo"} xref: EFO:0007458 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:18864 {source="MONDO:GARD"} @@ -116930,7 +116937,7 @@ name: REM sleep behavior disorder def: "A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)" [MESH:D020187] subset: otar {source="MONDO:OTAR"} synonym: "rapid eye movement sleep behavior disorder" EXACT [DOID:9091] -synonym: "rapid eye movement sleep behaviour disorder" EXACT OMO:0003005 [] +synonym: "rapid eye movement sleep behaviour disorder" EXACT OMO:0003005 [DOID:9091] xref: DOID:9091 {source="MONDO:equivalentTo", source="EFO:0007462"} xref: EFO:0007462 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G47.52 {source="DOID:9091", source="MONDO:equivalentTo"} @@ -117020,11 +117027,11 @@ synonym: "malignant retroperitoneal neoplasm" EXACT [NCIT:C3537] synonym: "malignant retroperitoneal space neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of peritoneum and retroperitoneum" EXACT [DOID:5875] synonym: "malignant tumour of peritoneum and retroperitoneum" EXACT OMO:0003005 [] -synonym: "neoplasm of retroperitoneum" BROAD [DOID:5875] -synonym: "neoplasm of the retroperitoneum" BROAD [DOID:5875] -synonym: "retroperitoneal neoplasm" BROAD [DOID:5875, NCIT:C3357] +synonym: "neoplasm of retroperitoneum" BROAD [] +synonym: "neoplasm of the retroperitoneum" BROAD [] +synonym: "retroperitoneal neoplasm" BROAD [] synonym: "retroperitoneal space cancer" EXACT [] -synonym: "tumor of retroperitoneum" BROAD [DOID:5875] +synonym: "tumor of retroperitoneum" BROAD [] synonym: "tumour of retroperitoneum" BROAD OMO:0003005 [] xref: DOID:5875 {source="EFO:0007466", source="MONDO:equivalentTo"} xref: EFO:0007466 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -117061,7 +117068,7 @@ subset: ordo_disorder {source="Orphanet:3096"} subset: orphanet_rare {source="Orphanet:3096"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Reye's syndrome" EXACT [DOID:14525] +synonym: "Reye's syndrome" EXACT [DOID:14525, NCIT:C34983] xref: DOID:14525 {source="EFO:0007467", source="MONDO:equivalentTo"} xref: EFO:0007467 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7570 {source="MONDO:GARD"} @@ -117229,7 +117236,7 @@ id: MONDO:0005952 name: scarlet fever def: "A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "scarlatina" EXACT [DOID:8596] +synonym: "scarlatina" EXACT [DOID:8596, ICD10CM:A38] xref: DOID:8596 {source="EFO:0007477", source="MONDO:equivalentTo"} xref: EFO:0007477 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:A38 {source="MONDO:equivalentTo", source="DOID:8596"} @@ -117264,8 +117271,8 @@ subset: otar {source="MONDO:OTAR"} synonym: "adenocarcinoma with productive fibrosis" EXACT [DOID:4024, NCIT:C2928] synonym: "FIBROADENOCARCINOMA, malignant" EXACT [NCIT:C2928] synonym: "fibrocarcinoma" EXACT [NCIT:C2928] -synonym: "scirrhous adenocarcinoma" EXACT [NCIT:C2928] -synonym: "scirrhous adenocarcinoma (morphologic abnormality)" EXACT [DOID:4024] +synonym: "scirrhous adenocarcinoma" EXACT [DOID:4024, NCIT:C2928] +synonym: "scirrhous adenocarcinoma (morphologic abnormality)" EXACT [] synonym: "scirrhous carcinoma" EXACT [NCIT:C2928] xref: DOID:4024 {source="EFO:0007478", source="MONDO:equivalentTo"} xref: EFO:0007478 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -117380,9 +117387,9 @@ synonym: "pneumoconiosis due to silica" EXACT [] synonym: "pneumoconiosis due to silicates" EXACT [DOID:10325] synonym: "silica pneumoconiosis" EXACT [DOID:10325] synonym: "silicatosis" RELATED [] -synonym: "silicosis" EXACT [] +synonym: "silicosis" EXACT [DOID:10325, NCIT:C3369] synonym: "silicotic fibrosis of lung" EXACT [DOID:10325] -synonym: "silicotuberculosis" NARROW [DOID:10325] +synonym: "silicotuberculosis" NARROW [] xref: DOID:10325 {source="MONDO:equivalentTo", source="EFO:0007485"} xref: EFO:0007485 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7647 {source="MONDO:GARD"} @@ -117459,8 +117466,8 @@ id: MONDO:0005963 name: sparganosis def: "A condition resulting from infection with the second stage larvae of the parasite Spirometra." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "infection by sparganum" EXACT [DOID:10080] -synonym: "sparganosis [larval diphyllobothriasis]" EXACT [DOID:10080, ICD9CM:123.5] +synonym: "infection by sparganum" EXACT [DOID:10080, icd11.foundation:22873958] +synonym: "sparganosis [larval diphyllobothriasis]" EXACT [ICD9CM:123.5] synonym: "Spirometra caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Spirometra disease or disorder" EXACT [] synonym: "Spirometra infectious disease" EXACT [] @@ -117505,9 +117512,9 @@ id: MONDO:0005965 name: spinal stenosis def: "Narrowing of the spinal canal." [MESH:D013130] subset: otar {source="MONDO:OTAR"} -synonym: "cervical spinal stenosis" NARROW [DOID:6725] -synonym: "lumbar spinal stenosis" NARROW [DOID:6725] -synonym: "spinal stenosis of lumbar region" NARROW [DOID:6725, ICD9CM:724.02] +synonym: "cervical spinal stenosis" NARROW [] +synonym: "lumbar spinal stenosis" NARROW [] +synonym: "spinal stenosis of lumbar region" NARROW [ICD9CM:724.02] xref: DOID:6725 {source="EFO:0007490", source="MONDO:equivalentTo"} xref: EFO:0007490 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0003416 {source="MONDO:otherHierarchy"} @@ -117545,20 +117552,20 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cancer of spleen" EXACT [MONDO:patterns/cancer] synonym: "cancer of the spleen" EXACT [NCIT:C3539] -synonym: "malignant neoplasm of spleen" EXACT [MONDO:patterns/cancer, NCIT:C3539] +synonym: "malignant neoplasm of spleen" EXACT [ICD10CM:C26.1, MONDO:patterns/cancer, NCIT:C3539] synonym: "malignant neoplasm of the spleen" EXACT [NCIT:C3539] synonym: "malignant spleen neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant splenic neoplasm" EXACT [NCIT:C3539] synonym: "malignant splenic tumor" EXACT [DOID:672, NCIT:C3539] synonym: "malignant splenic tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of spleen" EXACT [DOID:672, NCIT:C3539] +synonym: "malignant tumor of spleen" EXACT [NCIT:C3539] synonym: "malignant tumor of the spleen" EXACT [NCIT:C3539] -synonym: "malignant tumour of spleen" EXACT OMO:0003005 [] +synonym: "malignant tumour of spleen" EXACT OMO:0003005 [DOID:672] synonym: "malignant tumour of the spleen" EXACT OMO:0003005 [] -synonym: "spleen cancer" EXACT [MONDO:patterns/location, NCIT:C3539] -synonym: "spleen neoplasm" BROAD [DOID:672] +synonym: "spleen cancer" EXACT [DOID:672, MONDO:patterns/location, NCIT:C3539] +synonym: "spleen neoplasm" BROAD [] synonym: "splenic cancer" EXACT [NCIT:C3539] -synonym: "splenic neoplasm" BROAD [DOID:672, NCIT:C3383] +synonym: "splenic neoplasm" BROAD [] xref: DOID:672 {source="MONDO:equivalentTo", source="EFO:0007491"} xref: EFO:0007491 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C26.1 {source="MONDO:equivalentTo", source="DOID:672"} @@ -117645,8 +117652,8 @@ subset: ordo_disorder {source="Orphanet:83484"} subset: orphanet_rare {source="Orphanet:83484"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Neuroinvasive St. Louis encephalitis virus infection" EXACT [DOID:10845] -synonym: "Saint Louis encephalitis" EXACT [Orphanet:83484] +synonym: "Neuroinvasive St. Louis encephalitis virus infection" EXACT [DOID:10845, icd11.foundation:1306878274] +synonym: "Saint Louis encephalitis" EXACT [icd11.foundation:1306878274, Orphanet:83484] synonym: "St. Louis encephalitis virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "St. Louis encephalitis virus infectious encephalitis" EXACT [] xref: DOID:10845 {source="MONDO:equivalentTo", source="EFO:0007495"} @@ -117697,8 +117704,8 @@ name: staphyloenterotoxemia def: "Food poisoning that is caused by Staphylococcal infection." [NCIT:C35037] subset: otar {source="MONDO:OTAR"} synonym: "staphylococcal food poisoning" EXACT [DOID:96, ICD9CM:005.0, NCIT:C35037] -synonym: "staphylococcal toxaemia due to food" EXACT OMO:0003005 [] -synonym: "staphylococcal toxemia due to food" EXACT [DOID:96] +synonym: "staphylococcal toxaemia due to food" EXACT OMO:0003005 [DOID:96] +synonym: "staphylococcal toxemia due to food" EXACT [] synonym: "staphyloenterotoxicosis" EXACT [DOID:96] xref: DOID:96 {source="MONDO:equivalentTo", source="EFO:0007497"} xref: EFO:0007497 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -117723,7 +117730,7 @@ synonym: "pneumococcal pneumonia" EXACT [] synonym: "pneumonia caused by streptococcus" RELATED [] synonym: "pneumonia due to streptococcus" EXACT [] synonym: "streptococcal pneumonia" EXACT [] -synonym: "Streptococcus pneumonia" RELATED [DOID:0040084] +synonym: "Streptococcus pneumonia" RELATED [] synonym: "Streptococcus pneumoniae caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Streptococcus pneumoniae pneumonia" EXACT [] xref: DOID:0040084 {source="MONDO:equivalentTo"} @@ -118019,8 +118026,8 @@ id: MONDO:0005984 name: tinea pedis def: "Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum." [MESH:D014008] subset: otar {source="MONDO:OTAR"} -synonym: "athlete's foot" EXACT [DOID:12403] -synonym: "dermatophytosis of foot" EXACT [DOID:12403, ICD9CM:110.4] +synonym: "athlete's foot" EXACT [DOID:12403, ICD10CM:B35.3] +synonym: "dermatophytosis of foot" EXACT [DOID:12403, ICD10CM:B35.3, ICD9CM:110.4] synonym: "dermatophytosis of pes" EXACT [MONDO:design_pattern] synonym: "pes dermatophytosis" EXACT [MONDO:patterns/location] synonym: "ringworm of foot" RELATED [DOID:12403] @@ -118099,9 +118106,9 @@ subset: rare synonym: "infection by Toxascaris" EXACT [DOID:9790] synonym: "Toxocara caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Toxocara disease or disorder" EXACT [] -synonym: "Toxocara infection" EXACT [DOID:9790] +synonym: "Toxocara infection" EXACT [DOID:9790, icd11.foundation:1794729263] synonym: "Toxocara infectious disease" EXACT [] -synonym: "visceral larva migrans" EXACT [DOID:9790] +synonym: "visceral larva migrans" EXACT [DOID:9790, icd11.foundation:1794729263, NCIT:C34758] xref: DOID:9790 {source="MONDO:equivalentTo", source="EFO:0007516"} xref: EFO:0007516 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:18793 {source="MONDO:GARD"} @@ -118170,7 +118177,7 @@ name: tracheitis alt_id: MONDO:0020691 def: "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions." [DOID:9392] subset: otar {source="MONDO:OTAR"} -synonym: "acute tracheitis" EXACT [DOID:9392, ICD9CM:464.1] +synonym: "acute tracheitis" EXACT [DOID:9392, ICD10CM:J04.1, ICD9CM:464.1] synonym: "chronic tracheitis" EXACT [DOID:9392] synonym: "inflammation of tracheal mucosa" EXACT [] synonym: "tracheal Inflammation" EXACT [NCIT:C78643] @@ -118209,13 +118216,13 @@ synonym: "Bartonella quintana infectious disease" EXACT [] synonym: "bartonellosis due to Bartonella quintana infection" EXACT [Orphanet:64694] synonym: "fever, trench" RELATED [MESH:D014205] synonym: "fevers, trench" RELATED [MESH:D014205] -synonym: "His-Werner disease" EXACT [DOID:11101] -synonym: "quintan fever" EXACT [DOID:11101] -synonym: "shin bone fever" EXACT [DOID:11101] +synonym: "His-Werner disease" EXACT [DOID:11101, icd11.foundation:1587737629] +synonym: "quintan fever" EXACT [DOID:11101, ICD10CM:A79.0, icd11.foundation:1587737629] +synonym: "shin bone fever" EXACT [DOID:11101, icd11.foundation:1587737629] synonym: "tibialgic fever" EXACT [DOID:11101] -synonym: "trench fever" EXACT [DOID:11101, ICD9CM:083.1] +synonym: "trench fever" EXACT [DOID:11101, ICD10CM:A79.0, icd11.foundation:1587737629, ICD9CM:083.1, Orphanet:64694] synonym: "trench fevers" RELATED [MESH:D014205] -synonym: "Wolhynian fever" EXACT [DOID:11101] +synonym: "Wolhynian fever" EXACT [DOID:11101, ICD10CM:A79.0, icd11.foundation:1587737629] xref: DOID:11101 {source="MONDO:equivalentTo", source="EFO:0007519"} xref: EFO:0007519 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:18862 {source="MONDO:GARD"} @@ -118248,7 +118255,7 @@ name: Trichomonas vaginitis urogenital infection def: "A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse." [NCIT:C35083] synonym: "Trichomonas vaginalis caused disease of genitourinary system" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trichomonas vaginalis disease of genitourinary system" EXACT [] -synonym: "Trichomonas vaginalis trichomoniasis" RELATED [DOID:0050269] +synonym: "Trichomonas vaginalis trichomoniasis" RELATED [] synonym: "Trichomonas vaginitis" EXACT [NCIT:C35083] synonym: "urogenital infection by Trichomonas vaginalis" EXACT [] synonym: "urogenital infection caused by Trichomonas vaginalis" RELATED [] @@ -118292,7 +118299,7 @@ def: "Infestation with nematode worms of the genus trichostrongylus. Humans beco subset: otar {source="MONDO:OTAR"} synonym: "infection by Trichostrongylus" EXACT [DOID:1254] synonym: "infection by Trichostrongylus species" EXACT [DOID:1254] -synonym: "Trichostrongyliasis" EXACT [DOID:1254, ICD9CM:127.6] +synonym: "Trichostrongyliasis" EXACT [DOID:1254, ICD10CM:B81.2, ICD9CM:127.6] synonym: "Trichostrongylus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trichostrongylus disease or disorder" EXACT [] synonym: "Trichostrongylus infectious disease" EXACT [] @@ -118320,7 +118327,7 @@ synonym: "Trichuris trichiura caused disease or disorder" EXACT [MONDO:patterns/ synonym: "Trichuris trichiura disease or disorder" EXACT [] synonym: "Trichuris trichiura infection" EXACT [DOID:1252] synonym: "Trichuris trichiura infectious disease" EXACT [] -synonym: "whipworm disease" EXACT [DOID:1252] +synonym: "whipworm disease" EXACT [DOID:1252, icd11.foundation:422746556] synonym: "whipworm infection" RELATED [GARD:0010720] xref: DOID:1252 {source="EFO:0007524", source="MONDO:equivalentTo"} xref: EFO:0007524 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -118351,7 +118358,7 @@ id: MONDO:0005997 name: tricuspid valve stenosis def: "Narrowing or stricture of the tricuspid orifice of the heart." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "tricuspid stenosis" EXACT [DOID:4078] +synonym: "tricuspid stenosis" EXACT [DOID:4078, NCIT:C50783] xref: DOID:4078 {source="EFO:0007525", source="MONDO:equivalentTo"} xref: EFO:0007525 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0010446 {source="MONDO:otherHierarchy"} @@ -118392,7 +118399,7 @@ def: "An empyema resulting from infection by Mycobacterium tuberculosis." [NCIT: subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "tuberculous empyema (& pleural)" EXACT [DOID:14305] +synonym: "tuberculous empyema (& pleural)" EXACT [] xref: DOID:14305 {source="EFO:0007528", source="MONDO:equivalentTo"} xref: EFO:0007528 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:4929 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -118442,17 +118449,17 @@ def: "A bladder infection that occurs as a manifetation of a systemic infection subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bladder schistosomiasis" EXACT [DOID:1394, NCIT:C35362] +synonym: "bladder schistosomiasis" EXACT [DOID:1394] synonym: "cystitis with bilharziasis" EXACT [DOID:1394] synonym: "Schistosoma haematobium" EXACT [DOID:1394] -synonym: "Schistosoma haematobium (& vesical schistosomiasis)" EXACT [DOID:1394] +synonym: "Schistosoma haematobium (& vesical schistosomiasis)" EXACT [] synonym: "Schistosoma haematobium infection" RELATED [DOID:1394] synonym: "Schistosoma hematobium infection" EXACT [DOID:1394, NCIT:C39294] synonym: "Schistosoma hematobium infectious disease" EXACT [DOID:1394] synonym: "schistosomiasis due to Schistosoma haematobium" EXACT [DOID:1394, ICD9CM:120.0] synonym: "schistosomiasis of bladder" EXACT [DOID:1394] synonym: "urinary bladder schistosomiasis" EXACT [MONDO:patterns/location] -synonym: "urinary schistosomiasis" EXACT [] +synonym: "urinary schistosomiasis" EXACT [DOID:1394] synonym: "vesical schistosomiasis" EXACT [DOID:1394] xref: DOID:1394 {source="MONDO:equivalentTo", source="EFO:0007530"} xref: EFO:0007530 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -118510,11 +118517,11 @@ synonym: "body of uterus cancer" EXACT [MONDO:patterns/location] synonym: "cancer of body of uterus" EXACT [MONDO:patterns/cancer] synonym: "cancer of the corpus uteri" EXACT [NCIT:C61574] synonym: "corpus uteri cancer" EXACT [DOID:9460, NCIT:C61574] -synonym: "endometrial cancer" RELATED [NCIT:C61574] +synonym: "endometrial cancer" RELATED [] synonym: "malignant body of uterus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of body of uterus" EXACT [MONDO:patterns/cancer] synonym: "uterine (including endometrial) cancer" EXACT [NCIT:C61574] -synonym: "uterine corpus cancer" EXACT [NCIT:C61574] +synonym: "uterine corpus cancer" EXACT [DOID:9460, NCIT:C61574] xref: DOID:9460 {source="MONDO:equivalentTo"} xref: EFO:0007532 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C54 {source="DOID:9460"} @@ -118597,13 +118604,13 @@ id: MONDO:0006006 name: verrucous carcinoma def: "A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot." [NCIT:C3781] subset: otar {source="MONDO:OTAR"} -synonym: "verrucous carcinoma" EXACT [NCIT:C3781] -synonym: "verrucous carcinoma NOS (morphologic abnormality)" EXACT [DOID:3737] +synonym: "verrucous carcinoma" EXACT [DOID:3737, NCIT:C3781] +synonym: "verrucous carcinoma NOS (morphologic abnormality)" EXACT [] synonym: "verrucous epidermoid carcinoma" EXACT [NCIT:C3781] synonym: "verrucous epidermoid cell carcinoma" EXACT [NCIT:C3781] synonym: "verrucous squamous carcinoma" EXACT [DOID:3737, NCIT:C3781] -synonym: "verrucous squamous cell carcinoma" EXACT [NCIT:C3781] -synonym: "warty carcinoma" RELATED [DOID:3737] +synonym: "verrucous squamous cell carcinoma" EXACT [DOID:3737, NCIT:C3781] +synonym: "warty carcinoma" RELATED [] xref: DOID:3737 {source="EFO:0007535", source="MONDO:equivalentTo"} xref: EFO:0007535 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:199.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -118624,7 +118631,7 @@ name: vesicoureteral reflux def: "Abnormal flow of urine from the urinary bladder back into the ureters." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "vesico-ureteral reflux" EXACT [DOID:9620] -synonym: "vesicoureteral reflux" EXACT [MONDO:ambiguous] +synonym: "vesicoureteral reflux" EXACT [DOID:9620, icd11.foundation:2142055506, MONDO:ambiguous] synonym: "vesicoureteral reflux (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:9620 {source="EFO:0007536", source="MONDO:equivalentTo"} xref: EFO:0007536 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -118687,8 +118694,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:98252"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epidemic encephalitis" RELATED EXCLUDE [DOID:646] -synonym: "viral encephalitis" EXACT [NCIT:C35302] +synonym: "epidemic encephalitis" RELATED EXCLUDE [] +synonym: "viral encephalitis" EXACT [DOID:646, NCIT:C35302] synonym: "Viruses caused encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses encephalitis" EXACT [] xref: DOID:646 {source="MONDO:equivalentTo", source="EFO:0007538"} @@ -118736,11 +118743,11 @@ def: "An acute or chronic inflammation of the liver parenchyma caused by viruses comment: Editor note: consider adding term for viral subset: otar {source="MONDO:OTAR"} synonym: "animal viral hepatitis" EXACT EXCLUDE [] -synonym: "Hepatitis viral" EXACT [NCIT:C35124] +synonym: "Hepatitis viral" EXACT [] synonym: "human viral hepatitis" EXACT [DOID:1884] -synonym: "unspecified viral hepatitis with hepatic coma" NARROW [DOID:1884, ICD9CM:070.6] -synonym: "viral Hepatitis" EXACT [NCIT:C35124] -synonym: "viral hepatitis with hepatic coma" NARROW [DOID:1884] +synonym: "unspecified viral hepatitis with hepatic coma" NARROW [ICD9CM:070.6] +synonym: "viral Hepatitis" EXACT [DOID:1884, ICD10CM:B15-B19, icd11.foundation:985510409, NCIT:C35124] +synonym: "viral hepatitis with hepatic coma" NARROW [] synonym: "viral human hepatitis" EXACT [MONDO:0005343] synonym: "Viruses caused hepatitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses hepatitis" EXACT [] @@ -118810,11 +118817,11 @@ id: MONDO:0006014 name: vulvovaginal candidiasis def: "Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "candidal vulvovaginitis" EXACT [DOID:2272] -synonym: "candidal: [vulvovaginitis NOS] or [cervix]" EXACT [DOID:2272] -synonym: "candidal: cervix" EXACT [DOID:2272] -synonym: "candidiasis of vulva and vagina" EXACT [DOID:2272, ICD9CM:112.1] -synonym: "monilial vulvovaginitis" EXACT [DOID:2272] +synonym: "candidal vulvovaginitis" EXACT [DOID:2272, ICD10CM:B37.3] +synonym: "candidal: [vulvovaginitis NOS] or [cervix]" EXACT [] +synonym: "candidal: cervix" EXACT [] +synonym: "candidiasis of vulva and vagina" EXACT [DOID:2272, ICD10CM:B37.3, ICD9CM:112.1] +synonym: "monilial vulvovaginitis" EXACT [DOID:2272, ICD10CM:B37.3] synonym: "vaginal candidiasis" EXACT [NCIT:C2914] synonym: "vulvovaginal candidiasis" EXACT [DOID:2272, NCIT:C2914] xref: DOID:2272 {source="EFO:0007543", source="MONDO:equivalentTo"} @@ -118847,9 +118854,9 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:100067"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fatal pneumococcal Waterhouse-Friderichsen syndrome" RELATED [GARD:0009449] -synonym: "meningococcal hemorrhagic adrenalitis" EXACT [DOID:9931] +synonym: "meningococcal hemorrhagic adrenalitis" EXACT [DOID:9931, ICD10CM:A39.1] synonym: "Waterhouse–Friderichsen syndrome" RELATED [GARD:0009449] -synonym: "WFS" EXACT ABBREVIATION [DOID:9931] +synonym: "WFS" EXACT ABBREVIATION [] xref: DOID:9931 {source="EFO:0007544", source="MONDO:equivalentTo"} xref: EFO:0007544 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9449 {source="MONDO:GARD"} @@ -118888,11 +118895,11 @@ replaced_by: MONDO:0019380 id: MONDO:0006018 name: Wissler syndrome def: "A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate." [MESH:D014924] -synonym: "Wissler syndrome" EXACT [DOID:3047] +synonym: "Wissler syndrome" EXACT [] synonym: "Wissler's subsepsis allergica" EXACT [DOID:3047] -synonym: "Wissler's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Wissler-Fanconi syndrome" RELATED EXCLUDE [DOID:3047] -synonym: "Wissler-Fanconi syndrome (finding)" EXACT [DOID:3047] +synonym: "Wissler's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:3047, MONDO:LexicalVariant] +synonym: "Wissler-Fanconi syndrome" RELATED EXCLUDE [] +synonym: "Wissler-Fanconi syndrome (finding)" EXACT [] xref: DOID:3047 {source="EFO:0007547", source="MONDO:equivalentTo"} xref: MEDGEN:53087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D014924 {source="DOID:3047", source="EFO:0007547", source="MONDO:equivalentTo"} @@ -118909,10 +118916,10 @@ def: "An endemic, infectious, nonvenereal disease in humans that presents mainly subset: gard_rare {source="GARD:7913", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1872"} subset: rare -synonym: "Bouba" EXACT [DOID:10371] +synonym: "Bouba" EXACT [DOID:10371, ICD10CM:A66, icd11.foundation:840525023] synonym: "endemic treponematoses" RELATED [GARD:0007913] -synonym: "frambesia" EXACT [DOID:10371] -synonym: "frambesia tropica" EXACT [DOID:10371] +synonym: "frambesia" EXACT [DOID:10371, ICD10CM:A66, icd11.foundation:840525023] +synonym: "frambesia tropica" EXACT [DOID:10371, icd11.foundation:840525023] synonym: "frambosie" EXACT [DOID:10371] synonym: "polypapilloma tropicum" EXACT [DOID:10371] synonym: "thymosis" EXACT [DOID:10371] @@ -119030,7 +119037,7 @@ id: MONDO:0006026 name: urinary bladder disorder def: "A disease involving the urinary bladder." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "bladder disease" EXACT [NCIT:C2900] +synonym: "bladder disease" EXACT [DOID:365, NCIT:C2900] synonym: "bladder disorder" EXACT [NCIT:C2900] synonym: "disease of urinary bladder" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of urinary bladder" EXACT [] @@ -119077,11 +119084,11 @@ id: MONDO:0006028 name: cecum adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the caecum" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma of cecum" EXACT [DOID:3039, NCIT:C5543] +synonym: "adenocarcinoma of cecum" EXACT [NCIT:C5543] synonym: "adenocarcinoma of the cecum" EXACT [NCIT:C5543] synonym: "caecum adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "cecal adenocarcinoma" EXACT [DOID:3039, NCIT:C5543] -synonym: "cecum adenocarcinoma" EXACT [NCIT:C5543] +synonym: "cecum adenocarcinoma" EXACT [DOID:3039, NCIT:C5543] xref: DOID:3039 {source="EFO:1000020", source="MONDO:equivalentTo"} xref: EFO:1000020 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:234098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -119102,9 +119109,9 @@ synonym: "caecum carcinoma" EXACT [DOID:1519, MONDO:patterns/location] synonym: "carcinoma of caecum" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of cecum" EXACT [DOID:1519, NCIT:C3491] synonym: "carcinoma of the cecum" EXACT [NCIT:C3491] -synonym: "cecal cancer" BROAD [DOID:1519, NCIT:C3491] -synonym: "cecum cancer" BROAD [NCIT:C3491] -synonym: "cecum carcinoma" EXACT [NCIT:C3491] +synonym: "cecal cancer" BROAD [] +synonym: "cecum cancer" BROAD [] +synonym: "cecum carcinoma" EXACT [DOID:1519, NCIT:C3491] xref: DOID:1519 {source="EFO:1000021", source="MONDO:equivalentTo"} xref: EFO:1000021 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:101762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -119145,7 +119152,7 @@ id: MONDO:0006031 name: chronic rhinosinusitis def: "Chronic form of sinusitis." [MONDO:patterns/chronic] subset: otar {source="MONDO:OTAR"} -synonym: "chronic sinusitis" EXACT [] +synonym: "chronic sinusitis" EXACT [icd11.foundation:1836987572, NCIT:C35151] synonym: "sinusitis, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] xref: EFO:1000024 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1836987572 {source="MONDO:equivalentTo"} @@ -119165,7 +119172,7 @@ id: MONDO:0006032 name: cystitis def: "Inflammation of the urinary bladder." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "bladder infection" EXACT [NCIT:C26738] +synonym: "bladder infection" EXACT [] synonym: "inflammation of urinary bladder" EXACT [] synonym: "urinary bladder inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:1679 {source="EFO:1000025", source="MONDO:equivalentTo"} @@ -119201,7 +119208,7 @@ subset: orphanet_rare {source="Orphanet:497188"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "diffuse midline glioma" RELATED [https://orcid.org/0000-0001-8688-2523, PMID:30800634] -synonym: "DIPG" EXACT ABBREVIATION [GARD:0013075, ONCOTREE:DIPG, Orphanet:497188] +synonym: "DIPG" EXACT ABBREVIATION [GARD:0013075, NCIT:C94764, ONCOTREE:DIPG, Orphanet:497188] synonym: "infiltrative brainstem glioma" RELATED [GARD:0013075] xref: EFO:1000026 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:13075 {source="MONDO:GARD"} @@ -119228,7 +119235,7 @@ subset: rare synonym: "adenosquamous carcinoma of stomach" EXACT [DOID:5635, NCIT:C5474] synonym: "adenosquamous carcinoma of the stomach" EXACT [NCIT:C5474] synonym: "gastric (stomach) adenosquamous cancer" EXACT [NCIT:C5474] -synonym: "gastric adenosquamous carcinoma" EXACT [NCIT:C5474] +synonym: "gastric adenosquamous carcinoma" EXACT [DOID:5635, NCIT:C5474] synonym: "STAS" RELATED ABBREVIATION [ONCOTREE:STAS] synonym: "stomach adenosquamous carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5635 {source="MONDO:equivalentTo", source="EFO:1000029"} @@ -119248,7 +119255,7 @@ id: MONDO:0006035 name: gastric tubular adenocarcinoma def: "A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." [NCIT:C5473] subset: otar {source="MONDO:OTAR"} -synonym: "gastric tubular adenocarcinoma" EXACT [NCIT:C5473] +synonym: "gastric tubular adenocarcinoma" EXACT [DOID:6595, NCIT:C5473] synonym: "stomach tubular adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "tubular adenocarcinoma of stomach" EXACT [DOID:6595, NCIT:C5473] synonym: "tubular adenocarcinoma of the stomach" EXACT [NCIT:C5473] @@ -119271,13 +119278,13 @@ def: "A slow-growing, malignant tumor, characterize by the presence of granulosa subset: otar {source="MONDO:OTAR"} synonym: "granulosa cell neoplasm" EXACT [DOID:2999, NCIT:C3070] synonym: "granulosa cell neoplasm (disease)" EXACT [MONDO:patterns/location] -synonym: "granulosa cell tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3070] +synonym: "granulosa cell tumor" EXACT [DOID:2999, MONDO:patterns/neoplasm, NCIT:C3070] synonym: "granulosa cell tumor, adult type" EXACT [DOID:2999] -synonym: "granulosa cell tumor, adult type (morphologic abnormality)" EXACT [DOID:2999] -synonym: "granulosa cell tumor, sarcomatoid" EXACT [DOID:2999] -synonym: "granulosa cell tumor, undetermined" RELATED [NCIT:C3070] +synonym: "granulosa cell tumor, adult type (morphologic abnormality)" EXACT [] +synonym: "granulosa cell tumor, sarcomatoid" EXACT [] +synonym: "granulosa cell tumor, undetermined" RELATED [] synonym: "GRCT" RELATED ABBREVIATION [ONCOTREE:GRCT] -synonym: "malignant granulosa cell neoplasm" RELATED EXCLUDE [DOID:2999] +synonym: "malignant granulosa cell neoplasm" RELATED EXCLUDE [] synonym: "neoplasm of granulosa cell" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of granulosa cell" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of granulosa cell" EXACT OMO:0003005 [] @@ -119307,7 +119314,7 @@ subset: orphanet_rare {source="Orphanet:2189"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HLS" RELATED ABBREVIATION [GARD:0006683] -synonym: "hydrolethalus" RELATED [Orphanet:2189] +synonym: "hydrolethalus" RELATED [] synonym: "Salonen-Herva-Norio syndrome" EXACT [DOID:0050779] xref: DOID:0050779 {source="EFO:1000033", source="MONDO:equivalentTo"} xref: GARD:6683 {source="MONDO:GARD"} @@ -119411,8 +119418,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Meningitis, Tuberculous" EXACT [NORD:1437] synonym: "TB meningitis" EXACT [GARD:0007828] -synonym: "TBM" EXACT ABBREVIATION [Orphanet:499004] -synonym: "tubercular meningitis" EXACT [Orphanet:499004] +synonym: "TBM" EXACT ABBREVIATION [] +synonym: "tubercular meningitis" EXACT [] synonym: "tuberculous meningitis" EXACT [MONDO:0044684] xref: EFO:1000039 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7828 {source="MONDO:GARD"} @@ -119443,11 +119450,11 @@ subset: ordo_disorder {source="Orphanet:213531"} subset: orphanet_rare {source="Orphanet:213531"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "breast metaplastic carcinoma" RELATED [DOID:4680] +synonym: "breast metaplastic carcinoma" RELATED [] synonym: "metaplastic breast cancer" RELATED [GARD:0010804] synonym: "metaplastic breast carcinoma" EXACT [NCIT:C5164] -synonym: "metaplastic carcinoma of breast" EXACT [DOID:4680, NCIT:C5164] -synonym: "metaplastic carcinoma of the breast" EXACT [DOID:4680, NCIT:C5164] +synonym: "metaplastic carcinoma of breast" EXACT [NCIT:C5164] +synonym: "metaplastic carcinoma of the breast" EXACT [DOID:4680, NCIT:C5164, Orphanet:213531] xref: DOID:4680 {source="EFO:1000040", source="MONDO:equivalentTo"} xref: EFO:1000040 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10804 {source="MONDO:GARD"} @@ -119502,9 +119509,9 @@ subset: ordo_disorder {source="Orphanet:398971"} subset: orphanet_rare {source="Orphanet:398971"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "clear cell adenocarcinoma of ovary" EXACT [MONDO:0018367] -synonym: "clear cell adenocarcinoma of the ovary" RELATED [Orphanet:398971] -synonym: "ovarian clear cell adenocarcinoma" EXACT [NCIT:C40078, Orphanet:398971] +synonym: "clear cell adenocarcinoma of ovary" EXACT [icd11.foundation:315825558, MONDO:0018367] +synonym: "clear cell adenocarcinoma of the ovary" RELATED [] +synonym: "ovarian clear cell adenocarcinoma" EXACT [DOID:5304, NCIT:C40078, Orphanet:398971] synonym: "ovary clear cell adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5304 {source="EFO:1000042", source="MONDO:equivalentTo"} xref: EFO:1000042 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -119529,8 +119536,8 @@ def: "A malignant serous cystic epithelial neoplasm arising from the ovary. It i subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ovarian serous cystadenocarcinoma" EXACT [NCIT:C7978] -synonym: "serous cystadenoma" RELATED EXCLUDE [DOID:5746] +synonym: "ovarian serous cystadenocarcinoma" EXACT [DOID:5746, NCIT:C7978] +synonym: "serous cystadenoma" RELATED EXCLUDE [] xref: DOID:5746 {source="EFO:1000043", source="MONDO:equivalentTo"} xref: EFO:1000043 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:83541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -119547,12 +119554,12 @@ id: MONDO:0006047 name: pancreatic adenocarcinoma def: "A carcinoma that arises from glandular epithelial cells of the pancreas" [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma - pancreas" EXACT [NCIT:C8294] +synonym: "adenocarcinoma - pancreas" EXACT [] synonym: "adenocarcinoma of pancreas" EXACT [NCIT:C8294] -synonym: "adenocarcinoma of the pancreas" EXACT [DOID:4074, NCIT:C8294] +synonym: "adenocarcinoma of the pancreas" EXACT [NCIT:C8294] synonym: "PAAD" RELATED ABBREVIATION [ONCOTREE:PAAD] synonym: "pancreas adenocarcinoma" EXACT [DOID:4074, MONDO:patterns/location, NCIT:C8294] -synonym: "pancreatic adenocarcinoma" EXACT [NCIT:C8294] +synonym: "pancreatic adenocarcinoma" EXACT [DOID:4074, NCIT:C8294] xref: DOID:4074 {source="EFO:1000044", source="MONDO:equivalentTo"} xref: EFO:1000044 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:83800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -119578,8 +119585,8 @@ def: "A morphologic variant of lung adenocarcinoma characterized by the presence subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lung papillary adenocarcinoma" EXACT [MONDO:patterns/location] -synonym: "lung papillary-adenocarcinoma" EXACT [NCIT:C5650] +synonym: "lung papillary adenocarcinoma" EXACT [DOID:5588, MONDO:patterns/location, NCIT:C5650] +synonym: "lung papillary-adenocarcinoma" EXACT [] synonym: "papillary adenocarcinoma of lung" EXACT [NCIT:C5650] synonym: "papillary adenocarcinoma of the lung" EXACT [DOID:5588, NCIT:C5650] synonym: "papillary lung adenocarcinoma" EXACT [NCIT:C5650] @@ -119658,7 +119665,7 @@ id: MONDO:0006053 name: renal leiomyoma def: "A leiomyoma that involves the kidney." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} -synonym: "kidney leiomyoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "kidney leiomyoma" EXACT [MONDO:design_pattern, MONDO:patterns/location, NCIT:C159209] synonym: "leiomyoma of kidney" EXACT [MONDO:design_pattern] xref: EFO:1000050 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1691847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -119702,21 +119709,21 @@ id: MONDO:0006055 name: sex cord-stromal tumor def: "A neoplasm involving a sex cord." [MONDO:patterns/neoplasm] subset: otar {source="MONDO:OTAR"} -synonym: "malignant testicular sex cord-stromal tumor" NARROW [DOID:192] +synonym: "malignant testicular sex cord-stromal tumor" NARROW [] synonym: "malignant testicular sex cord-stromal tumour" NARROW OMO:0003005 [] synonym: "neoplasm of sex cord" EXACT [MONDO:patterns/neoplasm] synonym: "sex cord neoplasm" EXACT [] -synonym: "Sex cord stromal tumor" EXACT [DOID:192] -synonym: "Sex cord stromal tumour" EXACT OMO:0003005 [] -synonym: "sex cord tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3794] +synonym: "Sex cord stromal tumor" EXACT [] +synonym: "Sex cord stromal tumour" EXACT OMO:0003005 [DOID:192] +synonym: "sex cord tumor" EXACT [MONDO:patterns/neoplasm] synonym: "sex cord tumour" EXACT OMO:0003005 [] -synonym: "sex cord-gonadal stromal tumor" EXACT [NCIT:C3794] -synonym: "sex cord-gonadal stromal tumour" EXACT OMO:0003005 [] +synonym: "sex cord-gonadal stromal tumor" EXACT [DOID:192] +synonym: "sex cord-gonadal stromal tumour" EXACT OMO:0003005 [DOID:192] synonym: "Sex cord-stromal neoplasm" EXACT [DOID:192, NCIT:C3794] -synonym: "Sex cord-stromal tumor" EXACT [DOID:192, MTH:NOCODE, NCIT:C3794] +synonym: "Sex cord-stromal tumor" EXACT [MTH:NOCODE, NCIT:C3794] synonym: "sex cord-stromal tumor" EXACT [MONDO:0005958, NCIT:C3794] -synonym: "Sex cord-stromal tumor, no ICD-O subtype" EXACT [DOID:192] -synonym: "Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:192] +synonym: "Sex cord-stromal tumor, no ICD-O subtype" EXACT [] +synonym: "Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)" EXACT [] synonym: "Sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "specialised gonadal neoplasm" EXACT OMO:0003005 [] synonym: "specialised gonadal neoplasm (morphologic abnormality)" EXACT OMO:0003005 [] @@ -119724,10 +119731,10 @@ synonym: "specialised gonadal neoplasm NOS (morphologic abnormality)" EXACT OMO: synonym: "specialised gonadal tumour" EXACT OMO:0003005 [] synonym: "specialised gonadal tumour (qualifier value)" EXACT OMO:0003005 [] synonym: "specialized gonadal neoplasm" EXACT [DOID:192] -synonym: "specialized gonadal neoplasm (morphologic abnormality)" EXACT [DOID:192] -synonym: "specialized gonadal neoplasm NOS (morphologic abnormality)" EXACT [DOID:192] +synonym: "specialized gonadal neoplasm (morphologic abnormality)" EXACT [] +synonym: "specialized gonadal neoplasm NOS (morphologic abnormality)" EXACT [] synonym: "specialized gonadal tumor" EXACT [DOID:192] -synonym: "specialized gonadal tumor (qualifier value)" EXACT [DOID:192] +synonym: "specialized gonadal tumor (qualifier value)" EXACT [] synonym: "tumor of sex cord" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of sex cord" EXACT OMO:0003005 [] xref: DOID:192 {source="MONDO:equivalentTo", source="EFO:0007483"} @@ -119758,18 +119765,18 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "breast primary squamous cell carcinoma" EXACT [DOID:5514] -synonym: "breast squamous cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "breast squamous cell carcinoma" EXACT [DOID:5514, MONDO:patterns/location, NCIT:C5177] synonym: "metaplastic squamous cell carcinoma" RELATED [ONCOTREE:MSCC] synonym: "primary squamous cell breast carcinoma" EXACT [NCIT:C5177] -synonym: "primary squamous cell carcinoma of breast" EXACT [DOID:5514, NCIT:C5177] -synonym: "primary squamous cell carcinoma of the breast" EXACT [DOID:5514, NCIT:C5177, NCIT:C5179] +synonym: "primary squamous cell carcinoma of breast" EXACT [NCIT:C5177] +synonym: "primary squamous cell carcinoma of the breast" EXACT [DOID:5514, NCIT:C5177] synonym: "scc of breast" EXACT [DOID:5514, NCIT:C5177] synonym: "scc of the breast" EXACT [NCIT:C5177] synonym: "squamous breast carcinoma" EXACT [NCIT:C5177] synonym: "squamous carcinoma of breast" EXACT [NCIT:C5177] synonym: "squamous carcinoma of the breast" EXACT [NCIT:C5177] synonym: "squamous cell breast carcinoma" EXACT [NCIT:C5177] -synonym: "squamous cell carcinoma of breast" EXACT [DOID:5514, NCIT:C5177] +synonym: "squamous cell carcinoma of breast" EXACT [NCIT:C5177] synonym: "squamous cell carcinoma of the breast" EXACT [NCIT:C5177] xref: DOID:5514 {source="EFO:1000053", source="MONDO:equivalentTo"} xref: EFO:1000053 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -119795,7 +119802,7 @@ name: Wilms tumor def: "An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix." [NCIT:C3267] subset: otar {source="MONDO:OTAR"} synonym: "Wilms tumor" EXACT [MONDO:0021044, NCIT:C3267] -synonym: "Wilms tumor (nephroblastoma)" NARROW [NCIT:C3267] +synonym: "Wilms tumor (nephroblastoma)" NARROW [] synonym: "Wilms tumour (nephroblastoma)" NARROW OMO:0003005 [] synonym: "Wilms' tumor" EXACT [NCIT:C3267] synonym: "Wilms' tumour" EXACT OMO:0003005 [] @@ -119815,8 +119822,8 @@ def: "A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "nasal cavity squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C8192] -synonym: "squamous cell carcinoma of nasal cavity" EXACT [DOID:5515, NCIT:C8192] +synonym: "nasal cavity squamous cell carcinoma" EXACT [DOID:5515, MONDO:patterns/location, NCIT:C8192] +synonym: "squamous cell carcinoma of nasal cavity" EXACT [NCIT:C8192] synonym: "squamous cell carcinoma of the nasal cavity" EXACT [DOID:5515, NCIT:C8192] xref: DOID:5515 {source="MONDO:equivalentTo", source="EFO:1000057"} xref: EFO:1000057 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -119877,7 +119884,7 @@ subset: rare synonym: "adult lactase deficiency" EXACT [OMIM:223100] synonym: "disaccharide intolerance 3" EXACT [OMIM:223100] synonym: "hypolactasia, adult type" EXACT [OMIM:223100] -synonym: "lactase persistence/nonpersistence" EXACT [OMIM:223100, OMIM:genemap2] +synonym: "lactase persistence/nonpersistence" EXACT [] synonym: "lactose intolerance, ADULT type" EXACT [OMIM:223100] xref: EFO:1000063 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:75659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -119914,7 +119921,7 @@ synonym: "colloidal adenocarcinoma of the prostate" EXACT [NCIT:C5537] synonym: "colloidal prostate adenocarcinoma" EXACT [NCIT:C5537] synonym: "mucinous adenocarcinoma of prostate" EXACT [NCIT:C5537] synonym: "mucinous adenocarcinoma of the prostate" EXACT [NCIT:C5537] -synonym: "prostate colloid adenocarcinoma" EXACT [MONDO:0002743] +synonym: "prostate colloid adenocarcinoma" EXACT [DOID:3703, MONDO:0002743] xref: DOID:3703 {source="MONDO:equivalentTo"} xref: EFO:1000065 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:277536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -119939,10 +119946,10 @@ synonym: "ACTH secreting adenoma of pituitary" EXACT [NCIT:C7462] synonym: "ACTH secreting adenoma of the pituitary" EXACT [NCIT:C7462] synonym: "ACTH-producing pituitary adenoma" EXACT [NCIT:C7462] synonym: "ACTH-producing pituitary gland adenoma" EXACT [NCIT:C7462] -synonym: "ACTH-secreting adenoma of pituitary" EXACT [NCIT:C7462] -synonym: "ACTH-secreting adenoma of pituitary gland" EXACT [NCIT:C7462] -synonym: "ACTH-secreting adenoma of the pituitary" EXACT [NCIT:C7462] -synonym: "ACTH-secreting adenoma of the pituitary gland" EXACT [NCIT:C7462] +synonym: "ACTH-secreting adenoma of pituitary" EXACT [] +synonym: "ACTH-secreting adenoma of pituitary gland" EXACT [] +synonym: "ACTH-secreting adenoma of the pituitary" EXACT [] +synonym: "ACTH-secreting adenoma of the pituitary gland" EXACT [] synonym: "ACTHoma" EXACT [NCIT:C7462] synonym: "adrenocorticotropin producing adenoma of pituitary" EXACT [NCIT:C7462] synonym: "adrenocorticotropin producing adenoma of pituitary gland" EXACT [NCIT:C7462] @@ -119956,7 +119963,7 @@ synonym: "adrenocorticotropin secreting adenoma of the pituitary" EXACT [NCIT:C7 synonym: "adrenocorticotropin secreting adenoma of the pituitary gland" EXACT [NCIT:C7462] synonym: "adrenocorticotropin secreting pituitary adenoma" EXACT [NCIT:C7462] synonym: "adrenocorticotropin secreting pituitary gland adenoma" EXACT [NCIT:C7462] -synonym: "corticotroph adenoma" EXACT [NCIT:C7462] +synonym: "corticotroph adenoma" EXACT [] synonym: "corticotropic adenoma" EXACT [NCIT:C7462] synonym: "corticotropin secreting adenoma of the pituitary" EXACT [NCIT:C7462] synonym: "corticotropin secreting pituitary gland adenoma" EXACT [NCIT:C7462] @@ -119985,7 +119992,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACTH producing pituitary gland carcinoma" EXACT [NCIT:C5964] synonym: "malignant ACTH producing neoplasm of pituitary" EXACT [NCIT:C5964] -synonym: "malignant ACTH producing neoplasm of pituitary gland" EXACT [MONDO:0003838] +synonym: "malignant ACTH producing neoplasm of pituitary gland" EXACT [DOID:6276, MONDO:0003838, NCIT:C5964] synonym: "malignant ACTH producing neoplasm of the pituitary" EXACT [NCIT:C5964] synonym: "malignant ACTH producing neoplasm of the pituitary gland" EXACT [NCIT:C5964] synonym: "malignant ACTH producing pituitary gland neoplasm" EXACT [NCIT:C5964] @@ -120075,8 +120082,8 @@ name: adenofibroma def: "A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported." [NCIT:C8984] subset: otar {source="MONDO:OTAR"} synonym: "adenofibroma, benign" EXACT [NCIT:C8984] -synonym: "adenofibroma, no ICD-O subtype" EXACT [DOID:2683] -synonym: "adenofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:2683] +synonym: "adenofibroma, no ICD-O subtype" EXACT [] +synonym: "adenofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [] synonym: "benign mixed Muellerian tumor" EXACT [NCIT:C8984] synonym: "benign mixed Muellerian tumour" EXACT OMO:0003005 [] synonym: "female reproductive system adenofibroma" EXACT [NCIT:C8984] @@ -120120,8 +120127,8 @@ id: MONDO:0006074 name: adenosquamous carcinoma def: "A carcinoma composed of malignant glandular cells and malignant squamous cells." [NCIT:C3727] subset: otar {source="MONDO:OTAR"} -synonym: "adenosquamous carcinoma" EXACT [NCIT:C3727] -synonym: "adenosquamous carcinoma (morphologic abnormality)" EXACT [DOID:4830] +synonym: "adenosquamous carcinoma" EXACT [DOID:4830, NCIT:C3727] +synonym: "adenosquamous carcinoma (morphologic abnormality)" EXACT [] synonym: "adenosquamous cell carcinoma" EXACT [DOID:4830] synonym: "carcinoma, adenosquamous, malignant" EXACT [NCIT:C3727] synonym: "mixed adenocarcinoma and epidermoid carcinoma" EXACT [NCIT:C3727] @@ -120174,7 +120181,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adrenal gland neuroblastoma" EXACT [MONDO:patterns/location, NCIT:C4827] -synonym: "adrenal neuroblastoma" EXACT [MONDO:0003605, NCIT:C4827] +synonym: "adrenal neuroblastoma" EXACT [DOID:5718, MONDO:0003605, NCIT:C4827] synonym: "neuroblastoma of adrenal" EXACT [NCIT:C4827] synonym: "neuroblastoma of adrenal gland" EXACT [DOID:5718, NCIT:C4827] synonym: "neuroblastoma of the adrenal" EXACT [NCIT:C4827] @@ -120236,7 +120243,7 @@ subset: ordo_disorder {source="Orphanet:314422"} subset: orphanet_rare {source="Orphanet:314422"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ameloblastic carcinoma" EXACT [NCIT:C7492] +synonym: "ameloblastic carcinoma" EXACT [NCIT:C7492, Orphanet:314422] synonym: "odontoma, ameloblastic, malignant" EXACT [NCIT:C7492] xref: EFO:1000078 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:11855 {source="MONDO:GARD"} @@ -120272,8 +120279,8 @@ synonym: "anal malignant melanoma" EXACT [NCIT:C4639] synonym: "anal melanoma" EXACT [DOID:14145, NCIT:C4639] synonym: "anus melanoma" EXACT [] synonym: "anus melanoma (disease)" EXACT [MONDO:patterns/location] -synonym: "malignant anus melanoma" EXACT [MONDO:0001891] -synonym: "malignant melanoma of anus" EXACT [NCIT:C4639] +synonym: "malignant anus melanoma" EXACT [DOID:14145, MONDO:0001891] +synonym: "malignant melanoma of anus" EXACT [DOID:14145, NCIT:C4639] synonym: "malignant melanoma of the anus" EXACT [NCIT:C4639] synonym: "melanoma (disease) of anus" EXACT [] synonym: "melanoma of anus" EXACT [NCIT:C4639] @@ -120299,14 +120306,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anal squamous cell cancer" EXACT [NCIT:C9161] -synonym: "anal squamous cell carcinoma" EXACT [NCIT:C9161] +synonym: "anal squamous cell carcinoma" EXACT [DOID:5525, NCIT:C9161] synonym: "ANSC" RELATED ABBREVIATION [ONCOTREE:ANSC] synonym: "anus squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "epidermoid anal carcinoma" EXACT [DOID:5525, NCIT:C9161] synonym: "epidermoid carcinoma of anus" EXACT [NCIT:C9161] synonym: "epidermoid carcinoma of the anus" EXACT [NCIT:C9161] synonym: "squamous cell anal carcinoma" EXACT [NCIT:C9161] -synonym: "squamous cell carcinoma - anus" EXACT [NCIT:C9161] +synonym: "squamous cell carcinoma - anus" EXACT [] synonym: "squamous cell carcinoma of anus" EXACT [NCIT:C9161] synonym: "squamous cell carcinoma of the anus" EXACT [NCIT:C9161] xref: DOID:5525 {source="MONDO:equivalentTo"} @@ -120378,11 +120385,11 @@ subset: gard_rare {source="GARD:10564", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenocarcinoma of appendix" EXACT [DOID:3608, NCIT:C7718] +synonym: "adenocarcinoma of appendix" EXACT [NCIT:C7718] synonym: "adenocarcinoma of the appendix" EXACT [NCIT:C7718] synonym: "APAD" RELATED ABBREVIATION [ONCOTREE:APAD] synonym: "appendiceal adenocarcinoma" EXACT [DOID:3608, NCIT:C7718] -synonym: "appendix adenocarcinoma" EXACT [NCIT:C7718] +synonym: "appendix adenocarcinoma" EXACT [DOID:3608, NCIT:C7718] synonym: "vermiform appendix adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3608 {source="MONDO:equivalentTo"} xref: EFO:1000088 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -120444,18 +120451,18 @@ def: "A well differentiated, low grade tumor with neuroendocrine differentiation subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "appendiceal carcinoid tumor" EXACT [NCIT:C4138] +synonym: "appendiceal carcinoid tumor" EXACT [] synonym: "appendiceal carcinoid tumour" EXACT OMO:0003005 [] -synonym: "appendix carcinoid endocrine tumor" RELATED [DOID:0050911] +synonym: "appendix carcinoid endocrine tumor" RELATED [] synonym: "appendix carcinoid endocrine tumour" RELATED OMO:0003005 [] -synonym: "appendix carcinoid tumor" EXACT [MONDO:0000526] +synonym: "appendix carcinoid tumor" EXACT [DOID:0050911, MONDO:0000526, NCIT:C4138] synonym: "appendix carcinoid tumour" EXACT OMO:0003005 [] synonym: "appendix NET G1" EXACT [NCIT:C4138] -synonym: "appendix NET G1 (carcinoid)" EXACT [NCIT:C4138] -synonym: "appendix neuroendocrine tumor G1 (carcinoid)" EXACT [NCIT:C4138] +synonym: "appendix NET G1 (carcinoid)" EXACT [] +synonym: "appendix neuroendocrine tumor G1 (carcinoid)" EXACT [] synonym: "appendix neuroendocrine tumour G1 (carcinoid)" EXACT OMO:0003005 [] -synonym: "carcinoid tumor of appendix" EXACT [NCIT:C4138] -synonym: "carcinoid tumor of the appendix" EXACT [NCIT:C4138] +synonym: "carcinoid tumor of appendix" EXACT [] +synonym: "carcinoid tumor of the appendix" EXACT [] synonym: "carcinoid tumour of appendix" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the appendix" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of vermiform appendix" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -120507,7 +120514,7 @@ name: ascending colon neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C6427] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ascending colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C6427] +synonym: "ascending colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "ascending colon carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "ascending colon carcinoid tumour" EXACT OMO:0003005 [] synonym: "ascending colon carcinoid tumour (disease)" EXACT OMO:0003005 [] @@ -120515,8 +120522,8 @@ synonym: "ascending colon NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_ synonym: "ascending colon neuroendocrine neoplasm G1" EXACT [] synonym: "ascending colon neuroendocrine tumor G1" EXACT [NCIT:C6427] synonym: "ascending colon neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] -synonym: "carcinoid tumor of ascending colon" EXACT [NCIT:C6427] -synonym: "carcinoid tumor of the ascending colon" EXACT [NCIT:C6427] +synonym: "carcinoid tumor of ascending colon" EXACT [] +synonym: "carcinoid tumor of the ascending colon" EXACT [] synonym: "carcinoid tumour of ascending colon" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the ascending colon" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of ascending colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -120541,9 +120548,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Askin tumor" EXACT [NCIT:C7542] +synonym: "Askin tumor" EXACT [DOID:0050608, NCIT:C7542] synonym: "Askin's tumor" EXACT [DOID:0050608, NCIT:C7542] -synonym: "Askin's tumour" EXACT OMO:0003005 [] +synonym: "Askin's tumour" EXACT OMO:0003005 [DOID:0050608] synonym: "peripheral neuroectodermal tumor of thoracopulmonary region" EXACT [NCIT:C7542] synonym: "peripheral neuroectodermal tumour of thoracopulmonary region" EXACT OMO:0003005 [] synonym: "PNET of thoracopulmonary region" EXACT [NCIT:C7542] @@ -120567,7 +120574,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atypical carcinoid tumor" EXACT [NCIT:C72074] -synonym: "malignant carcinoid tumor" EXACT [NCIT:C72074] +synonym: "malignant carcinoid tumor" EXACT [] synonym: "malignant carcinoid tumour" EXACT OMO:0003005 [] xref: EFO:1000097 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:226834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -120581,9 +120588,9 @@ id: MONDO:0006096 name: atypical endometrial hyperplasia def: "An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear." [NCIT:C4654] subset: otar {source="MONDO:OTAR"} -synonym: "atypical hyperplasia of endometrium" EXACT [NCIT:C4654] -synonym: "atypical hyperplasia of the endometrium" EXACT [NCIT:C4654] -synonym: "endometrial hyperplasia with atypia" EXACT [NCIT:C4654] +synonym: "atypical hyperplasia of endometrium" EXACT [] +synonym: "atypical hyperplasia of the endometrium" EXACT [] +synonym: "endometrial hyperplasia with atypia" EXACT [] xref: EFO:1000098 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:621.33 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:138105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -120600,11 +120607,11 @@ def: "An intermediate, locally aggressive lipomatous neoplasm. Microscopically, subset: otar {source="MONDO:OTAR"} synonym: "ALT" EXACT ABBREVIATION [NCIT:C6505] synonym: "Atypical lipoma" EXACT [NCIT:C6505] -synonym: "lipoma-like liposarcoma" EXACT [NCIT:C6505] -synonym: "liposarcoma, well differentiated (morphologic abnormality)" EXACT [DOID:5690] -synonym: "superficial well differentiated liposarcoma" EXACT [NCIT:C6505] -synonym: "well differentiated liposarcoma" BROAD [NCIT:C6505] -synonym: "well differentiated liposarcoma of superficial soft tissue" EXACT [NCIT:C6505] +synonym: "lipoma-like liposarcoma" EXACT [] +synonym: "liposarcoma, well differentiated (morphologic abnormality)" EXACT [] +synonym: "superficial well differentiated liposarcoma" EXACT [] +synonym: "well differentiated liposarcoma" BROAD [] +synonym: "well differentiated liposarcoma of superficial soft tissue" EXACT [] xref: DOID:5690 {source="MONDO:equivalentTo"} xref: EFO:1000099 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8850/1 {source="NCIT:C6505"} @@ -120623,7 +120630,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "ALH" EXACT ABBREVIATION [NCIT:C4730] synonym: "atypical breast lobular hyperplasia" EXACT [NCIT:C4730] synonym: "atypical lobular breast hyperplasia" EXACT [NCIT:C4730] -synonym: "atypical lobular hyperplasia" EXACT [NCIT:C4730] +synonym: "atypical lobular hyperplasia" EXACT [] synonym: "atypical lobular hyperplasia of breast" EXACT [NCIT:C4730] synonym: "atypical lobular hyperplasia of the breast" EXACT [NCIT:C4730] xref: EFO:1000100 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -120697,9 +120704,9 @@ subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign carotid body paraganglioma" EXACT [NCIT:C79950] -synonym: "benign chemodectoma" RELATED [NCIT:C79950] +synonym: "benign chemodectoma" RELATED [] synonym: "carotid body paraganglioma, benign" EXACT [MONDO:patterns/benign] -synonym: "chemodectoma, benign" RELATED [NCIT:C79950] +synonym: "chemodectoma, benign" RELATED [] xref: EFO:1000108 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:396868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C79950 {source="MONDO:equivalentTo", source="NCIT:C79950", source="EFO:1000108"} @@ -120776,7 +120783,7 @@ synonym: "benign thyroid gland neoplasm" EXACT [NCIT:C3628] synonym: "benign thyroid gland tumor" EXACT [NCIT:C3628] synonym: "benign thyroid gland tumour" EXACT OMO:0003005 [] synonym: "benign thyroid neoplasm" EXACT [NCIT:C3628] -synonym: "benign thyroid neoplasm NOS" RELATED EXCLUDE [NCIT:C3628] +synonym: "benign thyroid neoplasm NOS" RELATED EXCLUDE [] synonym: "benign thyroid tumor" EXACT [NCIT:C3628] synonym: "benign thyroid tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the thyroid" EXACT [NCIT:C3628] @@ -120808,8 +120815,8 @@ def: "A benign, well-demarcated polypoid neoplasm arising from the bile duct epi subset: otar {source="MONDO:OTAR"} synonym: "adenoma of bile duct" EXACT [NCIT:C2942] synonym: "adenoma of the bile duct" EXACT [NCIT:C2942] -synonym: "bile duct adenoma" EXACT [MONDO:patterns/location, NCIT:C2942] -synonym: "bile duct adenoma (morphologic abnormality)" EXACT [DOID:5381] +synonym: "bile duct adenoma" EXACT [DOID:5381, MONDO:patterns/location, NCIT:C2942] +synonym: "bile duct adenoma (morphologic abnormality)" EXACT [] synonym: "Cholangioadenoma" EXACT [DOID:5381, NCIT:C2942] synonym: "Cholangioma" EXACT [NCIT:C2942] synonym: "CHOLANGIOMA, benign" EXACT [NCIT:C2942] @@ -120841,11 +120848,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "biphasic mesothelioma" EXACT [NCIT:C4282] -synonym: "malignant biphasic mesothelioma" EXACT [MONDO:0003015, NCIT:C4282] +synonym: "malignant biphasic mesothelioma" EXACT [DOID:4486, MONDO:0003015, NCIT:C4282] synonym: "malignant biphasic mesothelioma, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant mixed mesothelioma" EXACT [NCIT:C4282] synonym: "mesothelioma, biphasic, malignant" EXACT [DOID:4486] -synonym: "mesothelioma, biphasic, malignant (morphologic abnormality)" EXACT [DOID:4486] +synonym: "mesothelioma, biphasic, malignant (morphologic abnormality)" EXACT [] synonym: "mixed mesothelioma" EXACT [DOID:4486, NCIT:C4282] xref: DOID:4486 {source="MONDO:equivalentTo"} xref: EFO:1000124 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -120868,7 +120875,7 @@ id: MONDO:0006111 name: bladder flat intraepithelial lesion def: "A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ." [NCIT:C37266] subset: otar {source="MONDO:OTAR"} -synonym: "bladder flat intraepithelial lesion" EXACT [NCIT:C37266] +synonym: "bladder flat intraepithelial lesion" EXACT [DOID:5429, NCIT:C37266] synonym: "flat intraepithelial lesion of the bladder" EXACT [NCIT:C37266] synonym: "flat intraepithelial lesion of the urinary bladder" EXACT [DOID:5429, NCIT:C37266] synonym: "urinary bladder flat intraepithelial lesion" EXACT [NCIT:C37266] @@ -120936,7 +120943,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "blast crises" RELATED [MESH:D001752] -synonym: "blast crisis" EXACT [NCIT:C9110] +synonym: "blast crisis" EXACT [] synonym: "blast phase" RELATED [MESH:D001752] synonym: "blast phase chronic granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "blast phase chronic granulocytic leukemia" EXACT [NCIT:C9110] @@ -121012,7 +121019,7 @@ def: "Breast fibrocystic change characterized by the prominence of fibrotic chan subset: otar {source="MONDO:OTAR"} synonym: "breast fibrosclerosis" EXACT [NCIT:C3660] synonym: "breast fibrosis" EXACT [NCIT:C3660] -synonym: "fibrosclerosis of breast" EXACT [DOID:10353, ICD9CM:610.3, MONDO:0001013, NCIT:C3660] +synonym: "fibrosclerosis of breast" EXACT [DOID:10353, ICD10CM:N60.3, ICD9CM:610.3, MONDO:0001013, NCIT:C3660] synonym: "fibrosclerosis of the breast" EXACT [NCIT:C3660] synonym: "fibrosis of breast" EXACT [NCIT:C3660] synonym: "fibrosis of the breast" EXACT [DOID:10353, NCIT:C3660] @@ -121091,7 +121098,7 @@ id: MONDO:0006123 name: cardiac rhabdomyoma def: "A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "cardiac rhabdomyoma" EXACT [MONDO:ambiguous] +synonym: "cardiac rhabdomyoma" EXACT [MONDO:ambiguous, NCIT:C6739] synonym: "cardiac rhabdomyoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "heart rhabdomyoma" EXACT [MONDO:patterns/location, NCIT:C6739] synonym: "rhabdomyoma of heart" EXACT [NCIT:C6739] @@ -121112,22 +121119,22 @@ name: cecum neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5501] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "caecal carcinoid tumor" EXACT [NCIT:C5501] +synonym: "caecal carcinoid tumor" EXACT [] synonym: "caecal carcinoid tumour" EXACT OMO:0003005 [] -synonym: "caecum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5501] +synonym: "caecum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "caecum carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "caecum carcinoid tumour" EXACT OMO:0003005 [] synonym: "caecum carcinoid tumour (disease)" EXACT OMO:0003005 [] synonym: "caecum NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "caecum neuroendocrine neoplasm G1" EXACT [] synonym: "caecum neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] -synonym: "carcinoid tumor of cecum" EXACT [NCIT:C5501] -synonym: "carcinoid tumor of the cecum" EXACT [NCIT:C5501] +synonym: "carcinoid tumor of cecum" EXACT [] +synonym: "carcinoid tumor of the cecum" EXACT [] synonym: "carcinoid tumour of cecum" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the cecum" EXACT OMO:0003005 [] -synonym: "cecal carcinoid tumor" EXACT [NCIT:C5501] +synonym: "cecal carcinoid tumor" EXACT [] synonym: "cecal carcinoid tumour" EXACT OMO:0003005 [] -synonym: "cecum carcinoid tumor" EXACT [NCIT:C5501] +synonym: "cecum carcinoid tumor" EXACT [] synonym: "cecum carcinoid tumour" EXACT OMO:0003005 [] synonym: "cecum NET G1" EXACT [NCIT:C5501] synonym: "cecum neuroendocrine tumor G1" EXACT [NCIT:C5501] @@ -121227,7 +121234,7 @@ subset: ordo_disorder {source="Orphanet:251931"} subset: orphanet_rare {source="Orphanet:251931"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebellar liponeurocytoma" EXACT [DOID:6458] +synonym: "cerebellar liponeurocytoma" EXACT [DOID:6458, NCIT:C6905, Orphanet:251931] synonym: "cerebellar liponeurocytoma (WHO grade II)" EXACT [NCIT:C6905] synonym: "CLNC" RELATED ABBREVIATION [ONCOTREE:CLNC] synonym: "lipomatous medulloblastoma" EXACT [DOID:6458, NCIT:C6905] @@ -121255,9 +121262,9 @@ subset: ordo_disorder {source="Orphanet:213828"} subset: orphanet_rare {source="Orphanet:213828"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenoid basal carcinoma of the cervix uteri" EXACT [MONDO:0016287] +synonym: "adenoid basal carcinoma of the cervix uteri" EXACT [MONDO:0016287, Orphanet:213828] synonym: "cervical adenoid basal cancer" EXACT [NCIT:C40213] -synonym: "cervical adenoid basal carcinoma" EXACT [Orphanet:213828] +synonym: "cervical adenoid basal carcinoma" EXACT [DOID:6428, NCIT:C40213, Orphanet:213828] synonym: "skin adenoid basal cell carcinoma of uterine cervix" EXACT [MONDO:design_pattern] synonym: "uterine cervix skin adenoid basal cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:6428 {source="MONDO:equivalentTo"} @@ -121291,11 +121298,11 @@ subset: rare synonym: "adenoid cystic carcinoma of cervix" EXACT [NCIT:C6346] synonym: "adenoid cystic carcinoma of cervix uteri" EXACT [NCIT:C6346] synonym: "adenoid cystic carcinoma of the cervix" EXACT [NCIT:C6346] -synonym: "adenoid cystic carcinoma of the cervix uteri" EXACT [DOID:4867, NCIT:C6346] +synonym: "adenoid cystic carcinoma of the cervix uteri" EXACT [DOID:4867, NCIT:C6346, Orphanet:213823] synonym: "adenoid cystic carcinoma of the uterine cervix" EXACT [NCIT:C6346] synonym: "adenoid cystic carcinoma of uterine cervix" EXACT [NCIT:C6346] synonym: "cervical adenoid cystic cancer" EXACT [NCIT:C6346] -synonym: "cervical adenoid cystic carcinoma" EXACT [NCIT:C6346, Orphanet:213823] +synonym: "cervical adenoid cystic carcinoma" EXACT [DOID:4867, NCIT:C6346, Orphanet:213823] synonym: "cervix uteri adenoid cystic carcinoma" EXACT [NCIT:C6346] synonym: "uterine cervix adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C6346] xref: DOID:4867 {source="MONDO:equivalentTo"} @@ -121330,7 +121337,7 @@ synonym: "adenosquamous cell carcinoma of the cervix uteri" EXACT [DOID:5636, NC synonym: "adenosquamous cell carcinoma of the uterine cervix" EXACT [NCIT:C4519] synonym: "adenosquamous cell carcinoma of uterine cervix" EXACT [NCIT:C4519] synonym: "cervical adenosquamous cancer" EXACT [NCIT:C4519] -synonym: "cervical adenosquamous carcinoma" EXACT [NCIT:C4519] +synonym: "cervical adenosquamous carcinoma" EXACT [DOID:5636, NCIT:C4519] synonym: "cervical adenosquamous cell carcinoma" EXACT [NCIT:C4519] synonym: "cervix adenosquamous cell carcinoma" EXACT [NCIT:C4519] synonym: "cervix uteri adenosquamous cell carcinoma" EXACT [NCIT:C4519] @@ -121353,7 +121360,7 @@ def: "A rare morphologic variant of cervical adenocarcinoma composed of clear an subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cervical clear cell adenocarcinoma" EXACT [NCIT:C6344] +synonym: "cervical clear cell adenocarcinoma" EXACT [DOID:5303, NCIT:C6344] synonym: "cervical clear cell carcinoma" EXACT [NCIT:C6344] synonym: "cervix clear cell adenocarcinoma" EXACT [NCIT:C6344] synonym: "cervix clear cell carcinoma" EXACT [NCIT:C6344] @@ -121411,7 +121418,7 @@ def: "A rare, aggressive neuroendocrine carcinoma that arises from the cervix an subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cervical large cell neuroendocrine carcinoma" EXACT [MONDO:0003961, NCIT:C40214] +synonym: "cervical large cell neuroendocrine carcinoma" EXACT [DOID:6659, MONDO:0003961, NCIT:C40214] synonym: "cervical neuroendocrine tumor" RELATED [ONCOTREE:CENE] synonym: "cervical neuroendocrine tumour" RELATED OMO:0003005 [] xref: DOID:6659 {source="MONDO:equivalentTo"} @@ -121442,7 +121449,7 @@ def: "A rare, extremely well differentiated cervical mucinous adenocarcinoma in subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cervical adenoma malignum" EXACT [MONDO:0003949, NCIT:C40206] +synonym: "cervical adenoma malignum" EXACT [DOID:6627, MONDO:0003949, NCIT:C40206] synonym: "cervical mucinous adenocarcinoma, minimal deviation type" EXACT [NCIT:C40206] synonym: "cervical mucinous adenocarcinoma, minimal deviation variant" EXACT [NCIT:C40206] xref: DOID:6627 {source="MONDO:equivalentTo"} @@ -121462,7 +121469,7 @@ synonym: "cervical adenocarcinoma, villoglandular variant" EXACT [NCIT:C40208] synonym: "cervical villoglandular adenocarcinoma" EXACT [NCIT:C40208] synonym: "cervical villoglandular carcinoma" EXACT [NCIT:C40208] synonym: "villoglandular adenocarcinoma of the cervix" RELATED [ONCOTREE:VGCE] -synonym: "villoglandular variant cervical mucinous adenocarcinoma" EXACT [MONDO:0004536] +synonym: "villoglandular variant cervical mucinous adenocarcinoma" EXACT [DOID:8338, MONDO:0004536] xref: DOID:8338 {source="MONDO:equivalentTo"} xref: MEDGEN:927340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40208 {source="DOID:8338", source="MONDO:equivalentTo", source="EFO:1000170"} @@ -121483,12 +121490,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cervical small cell cancer" EXACT [NCIT:C7982] synonym: "cervical small cell carcinoma" EXACT [NCIT:C7982] -synonym: "cervix small cell carcinoma" EXACT [MONDO:0003981, NCIT:C7982] +synonym: "cervix small cell carcinoma" EXACT [DOID:6740, MONDO:0003981, NCIT:C7982] synonym: "cervix uteri small cell carcinoma" EXACT [NCIT:C7982] synonym: "SCCE" RELATED ABBREVIATION [ONCOTREE:SCCE] synonym: "small cell carcinoma of cervix" EXACT [NCIT:C7982] synonym: "small cell carcinoma of cervix uteri" EXACT [NCIT:C7982] -synonym: "small cell carcinoma of the cervix" EXACT [DOID:6740, NCIT:C7982] +synonym: "small cell carcinoma of the cervix" EXACT [NCIT:C7982] synonym: "small cell carcinoma of the cervix uteri" EXACT [DOID:6740, NCIT:C7982] synonym: "small cell carcinoma of the uterine cervix" EXACT [NCIT:C7982] synonym: "small cell carcinoma of uterine cervix" EXACT [NCIT:C7982] @@ -121515,19 +121522,19 @@ subset: orphanet_rare {source="Orphanet:213767"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cervical squamous cell cancer" EXACT [NCIT:C4028] -synonym: "cervical squamous cell carcinoma" EXACT [NCIT:C4028, Orphanet:213767] -synonym: "cervical squamous cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C4028] -synonym: "cervical squamous cell carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C4028] +synonym: "cervical squamous cell carcinoma" EXACT [DOID:3744, NCIT:C4028, Orphanet:213767] +synonym: "cervical squamous cell carcinoma, NOS" RELATED EXCLUDE [] +synonym: "cervical squamous cell carcinoma, not otherwise specified" RELATED EXCLUDE [] synonym: "cervix squamous cell carcinoma" EXACT [NCIT:C4028] synonym: "cervix uteri squamous cell carcinoma" EXACT [NCIT:C4028] synonym: "CESC" RELATED ABBREVIATION [ONCOTREE:CESC] -synonym: "squamous cell carcinoma of cervix" EXACT [NCIT:C4028] -synonym: "squamous cell carcinoma of cervix uteri" EXACT [NCIT:C4028] +synonym: "squamous cell carcinoma of cervix" EXACT [DOID:3744, NCIT:C4028] +synonym: "squamous cell carcinoma of cervix uteri" EXACT [icd11.foundation:1544785014, NCIT:C4028] synonym: "squamous cell carcinoma of the cervix" EXACT [NCIT:C4028] -synonym: "squamous cell carcinoma of the cervix uteri" EXACT [DOID:3744, NCIT:C4028] +synonym: "squamous cell carcinoma of the cervix uteri" EXACT [DOID:3744, NCIT:C4028, Orphanet:213767] synonym: "squamous cell carcinoma of the uterine cervix" EXACT [NCIT:C4028] synonym: "squamous cell carcinoma of uterine cervix" EXACT [NCIT:C4028] -synonym: "squamous cervical cancer" EXACT [NCIT:C4028] +synonym: "squamous cervical cancer" EXACT [] synonym: "uterine cervix squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4028] xref: DOID:3744 {source="EFO:1000172", source="MONDO:equivalentTo"} xref: EFO:1000172 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -121552,8 +121559,8 @@ intersection_of: disease_has_location UBERON:0000002 ! uterine cervix id: MONDO:0006144 name: cervical Wilms tumor def: "An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney." [NCIT:C40236] -synonym: "cervical Wilms tumor" EXACT [DOID:5190, NCIT:C40236] -synonym: "cervical Wilms' tumor" EXACT [NCIT:C40236] +synonym: "cervical Wilms tumor" EXACT [NCIT:C40236] +synonym: "cervical Wilms' tumor" EXACT [DOID:5190] synonym: "cervical Wilms' tumour" EXACT OMO:0003005 [] xref: DOID:5190 {source="MONDO:equivalentTo"} xref: MEDGEN:273129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -121572,8 +121579,8 @@ def: "A slow-growing malignant bone tumor arising from the remnants of the notoc subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chondroid chordoma" EXACT [MONDO:0002893] -synonym: "chondroid chordoma (morphologic abnormality)" EXACT [DOID:4152] +synonym: "chondroid chordoma" EXACT [DOID:4152, MONDO:0002893, NCIT:C6902] +synonym: "chondroid chordoma (morphologic abnormality)" EXACT [] xref: DOID:4152 {source="MONDO:equivalentTo"} xref: EFO:1000174 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:9371/3 {source="NCIT:C6902"} @@ -121632,7 +121639,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Burkitt lymphoma of colon" EXACT [] synonym: "Burkitts lymphoma of colon" EXACT [MONDO:design_pattern] -synonym: "colon Burkitt lymphoma" EXACT [MONDO:patterns/location] +synonym: "colon Burkitt lymphoma" EXACT [MONDO:patterns/location, NCIT:C27465] synonym: "colon Burkitt's lymphoma" EXACT [NCIT:C27465] synonym: "colon Burkitts lymphoma" EXACT [MONDO:patterns/location] synonym: "primary colon Burkitt's lymphoma" EXACT [NCIT:C27465] @@ -121729,11 +121736,11 @@ def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) th subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoid tumor of colon" EXACT [NCIT:C5497] -synonym: "carcinoid tumor of the colon" EXACT [NCIT:C5497] +synonym: "carcinoid tumor of colon" EXACT [] +synonym: "carcinoid tumor of the colon" EXACT [] synonym: "carcinoid tumour of colon" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the colon" EXACT OMO:0003005 [] -synonym: "colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C5497] +synonym: "colon carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "colon carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "colon carcinoid tumour" EXACT OMO:0003005 [] synonym: "colon carcinoid tumour (disease)" EXACT OMO:0003005 [] @@ -121741,7 +121748,7 @@ synonym: "colon NET G1" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NC synonym: "colon neuroendocrine neoplasm G1" EXACT [] synonym: "colon neuroendocrine tumor G1" EXACT [NCIT:C5497] synonym: "colon neuroendocrine tumor, well differentiated, low grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] -synonym: "colonic carcinoid tumor" EXACT [NCIT:C5497] +synonym: "colonic carcinoid tumor" EXACT [] synonym: "colonic carcinoid tumour" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of colon" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] xref: EFO:1000188 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -121785,7 +121792,7 @@ name: colorectal adenosquamous carcinoma def: "An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas." [NCIT:C43589] subset: otar {source="MONDO:OTAR"} synonym: "colorectal (colon or rectal) adenosquamous cancer" EXACT [NCIT:C43589] -synonym: "colorectal adenosquamous cancer" EXACT [NCIT:C43589] +synonym: "colorectal adenosquamous cancer" EXACT [] synonym: "colorectal adenosquamous carcinoma" EXACT [NCIT:C43589] synonym: "colorectum adenosquamous carcinoma" EXACT [MONDO:patterns/location] xref: EFO:1000190 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -121828,7 +121835,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "colorectal (colon or rectal) gastrointestinal stromal tumor (gist)" EXACT [NCIT:C27735] synonym: "colorectal (colon or rectal) gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 [] synonym: "colorectal gastrointestinal stromal tumor" EXACT [NCIT:C27735] -synonym: "colorectal gastrointestinal stromal tumor (gist)" EXACT [NCIT:C27735] +synonym: "colorectal gastrointestinal stromal tumor (gist)" EXACT [] synonym: "colorectal gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 [] synonym: "colorectal gist" EXACT [NCIT:C27735] xref: EFO:1000192 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -121948,7 +121955,7 @@ name: colorectal squamous cell carcinoma def: "A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate." [NCIT:C43588] subset: otar {source="MONDO:OTAR"} synonym: "colorectal (colon or rectal) squamous cell cancer" EXACT [NCIT:C43588] -synonym: "colorectal squamous cell cancer" EXACT [NCIT:C43588] +synonym: "colorectal squamous cell cancer" EXACT [] synonym: "colorectal squamous cell carcinoma" EXACT [NCIT:C43588] synonym: "colorectum squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: EFO:1000198 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -122023,7 +122030,7 @@ def: "Any disorder of the conjunctiva." [NCIT:C27605] subset: otar {source="MONDO:OTAR"} synonym: "conjunctiva disease" EXACT [MONDO:patterns/location] synonym: "conjunctiva disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "conjunctival disease" EXACT [NCIT:C27605] +synonym: "conjunctival disease" EXACT [DOID:4251, NCIT:C27605] synonym: "conjunctival disorder" EXACT [NCIT:C27605] synonym: "disease of conjunctiva" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of conjunctiva" EXACT [] @@ -122052,7 +122059,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "conjunctival nevus" EXACT [NCIT:C4551] +synonym: "conjunctival nevus" EXACT [DOID:0050906, NCIT:C4551] synonym: "Nevus of conjunctiva" EXACT [NCIT:C4551] synonym: "Nevus of the conjunctiva" EXACT [NCIT:C4551] xref: DOID:0050906 {source="MONDO:equivalentTo"} @@ -122077,11 +122084,11 @@ synonym: "conjunctiva epidermoid carcinoma" EXACT [NCIT:C4549] synonym: "conjunctiva squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4549] synonym: "conjunctival epidermoid carcinoma" EXACT [DOID:1748, NCIT:C4549] synonym: "conjunctival squamous cell cancer" EXACT [NCIT:C4549] -synonym: "conjunctival squamous cell carcinoma" EXACT [NCIT:C4549] +synonym: "conjunctival squamous cell carcinoma" EXACT [DOID:1748, NCIT:C4549] synonym: "epidermoid carcinoma of conjunctiva" EXACT [NCIT:C4549] synonym: "epidermoid carcinoma of the conjunctiva" EXACT [NCIT:C4549] synonym: "invasive squamous cell carcinoma of the conjunctiva" EXACT [DOID:1748] -synonym: "ocular surface squamous neoplasia" BROAD [DOID:1748] +synonym: "ocular surface squamous neoplasia" BROAD [] synonym: "squamous cell carcinoma of conjunctiva" EXACT [DOID:1748, NCIT:C4549] synonym: "squamous cell carcinoma of the conjunctiva" EXACT [NCIT:C4549] xref: DOID:1748 {source="MONDO:equivalentTo"} @@ -122178,8 +122185,8 @@ def: "A sporadic or less frequently familial neoplasm, arising from the glandula subset: otar {source="MONDO:OTAR"} synonym: "digestive system adenoma" EXACT [NCIT:C36207] synonym: "digestive tract adenoma" EXACT [MONDO:patterns/location] -synonym: "gastrointestinal adenoma" EXACT [MONDO:0002890, NCIT:C36207] -synonym: "GI adenoma" EXACT [DOID:4147, NCIT:C36207] +synonym: "gastrointestinal adenoma" EXACT [DOID:4147, MONDO:0002890] +synonym: "GI adenoma" EXACT [DOID:4147] xref: DOID:4147 {source="MONDO:equivalentTo"} xref: EFO:1000217 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:184920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -122200,7 +122207,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of digestive system" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the gastrointestinal system" EXACT [NCIT:C96963] synonym: "digestive system carcinoma" EXACT [NCIT:C96963] -synonym: "gastrointestinal carcinoma" EXACT [MONDO:ambiguous] +synonym: "gastrointestinal carcinoma" EXACT [DOID:0050922, MONDO:ambiguous] synonym: "gastrointestinal carcinoma (disease)" EXACT [MONDO:0000537] synonym: "gastrointestinal system carcinoma" EXACT [NCIT:C96963] xref: DOID:0050922 {source="MONDO:equivalentTo"} @@ -122243,10 +122250,10 @@ subset: ordo_disorder {source="Orphanet:71274"} subset: orphanet_rare {source="Orphanet:71274"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diffuse peritoneal leiomyomatosis" EXACT [MONDO:0003613, NCIT:C3958, Orphanet:71274] -synonym: "disseminated peritoneal leiomyomatosis" EXACT [NCIT:C3958] +synonym: "diffuse peritoneal leiomyomatosis" EXACT [DOID:5728, MONDO:0003613, NCIT:C3958, Orphanet:71274] +synonym: "disseminated peritoneal leiomyomatosis" EXACT [NCIT:C3958, Orphanet:71274] synonym: "DPL" EXACT ABBREVIATION [Orphanet:71274] -synonym: "leiomyomatosis peritonealis disseminata" EXACT [NCIT:C3958] +synonym: "leiomyomatosis peritonealis disseminata" EXACT [DOID:5728, NCIT:C3958] synonym: "leiomyomatosis peritonealis disseminate" EXACT [Orphanet:71274] synonym: "LPD" EXACT ABBREVIATION [Orphanet:71274] xref: DOID:5728 {source="MONDO:equivalentTo"} @@ -122314,10 +122321,10 @@ def: "A carcinoma that arises from glandular epithelial cells of the duodenum." subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenocarcinoma of duodenum" EXACT [DOID:10816, NCIT:C7889] +synonym: "adenocarcinoma of duodenum" EXACT [NCIT:C7889] synonym: "adenocarcinoma of the duodenum" EXACT [NCIT:C7889] synonym: "duodenal adenocarcinoma" EXACT [DOID:10816, NCIT:C7889] -synonym: "duodenum adenocarcinoma" EXACT [MONDO:patterns/location] +synonym: "duodenum adenocarcinoma" EXACT [DOID:10816, MONDO:patterns/location] xref: DOID:10816 {source="MONDO:equivalentTo"} xref: EFO:1000223 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:82985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -122337,7 +122344,7 @@ name: duodenal villous adenoma def: "A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features." [NCIT:C5338] subset: otar {source="MONDO:OTAR"} synonym: "duodenal villous adenoma" EXACT [NCIT:C5338] -synonym: "duodenum adenoma" RELATED [DOID:0050927] +synonym: "duodenum adenoma" RELATED [] synonym: "duodenum villous adenoma" EXACT [MONDO:patterns/location] synonym: "villous adenoma of duodenum" EXACT [NCIT:C5338] synonym: "villous adenoma of the duodenum" EXACT [NCIT:C5338] @@ -122375,11 +122382,11 @@ id: MONDO:0006189 name: eccrine porocarcinoma def: "A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites." [NCIT:C5560] subset: otar {source="MONDO:OTAR"} -synonym: "eccrine porocarcinoma" EXACT [NCIT:C5560] +synonym: "eccrine porocarcinoma" EXACT [DOID:7566, NCIT:C5560] synonym: "eccrine porocarcinoma of skin" RELATED [GARD:0007431] synonym: "epidermotropic eccrine carcinoma" EXACT [NCIT:C5560] synonym: "malignant eccrine poroma" EXACT [DOID:7566, NCIT:C5560] -synonym: "porocarcinoma" EXACT [DOID:7566] +synonym: "porocarcinoma" EXACT [DOID:7566, NCIT:C5560] synonym: "porocarcinoma/spiroadenocarcinoma" RELATED [ONCOTREE:POCA] xref: DOID:7566 {source="MONDO:equivalentTo"} xref: EFO:1000229 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -122401,7 +122408,7 @@ id: MONDO:0006190 name: endolymphatic sac tumor def: "An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "aggressive papillary tumor of the temporal bone" EXACT [NCIT:C67560] +synonym: "aggressive papillary tumor of the temporal bone" EXACT [] synonym: "aggressive papillary tumour of the temporal bone" EXACT OMO:0003005 [] synonym: "ELST" EXACT ABBREVIATION [NCIT:C67560] synonym: "endolymphatic sac neoplasm" EXACT [] @@ -122433,7 +122440,7 @@ def: "A clear cell adenocarcinoma that involves the endometrium." [MONDO:pattern subset: otar {source="MONDO:OTAR"} synonym: "clear cell carcinoma of endometrium" EXACT [DOID:5299, NCIT:C8028] synonym: "clear cell carcinoma of the endometrium" EXACT [NCIT:C8028] -synonym: "endometrial clear cell adenocarcinoma" EXACT [MONDO:0003380, NCIT:C8028] +synonym: "endometrial clear cell adenocarcinoma" EXACT [DOID:5299, icd11.foundation:388735319, MONDO:0003380, NCIT:C8028] synonym: "endometrium clear cell adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:5299 {source="MONDO:equivalentTo"} xref: EFO:1000231 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -122451,13 +122458,13 @@ id: MONDO:0006192 name: endometrial endometrioid adenocarcinoma def: "A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma." [NCIT:C6287] subset: otar {source="MONDO:OTAR"} -synonym: "endometrial endometrioid adenocarcinoma" EXACT [NCIT:C6287] +synonym: "endometrial endometrioid adenocarcinoma" EXACT [icd11.foundation:671511103, NCIT:C6287] synonym: "endometrioid adenocarcinoma of endometrium" EXACT [NCIT:C6287] synonym: "endometrioid adenocarcinoma of the endometrium" EXACT [NCIT:C6287] synonym: "endometrioid carcinoma of endometrium" EXACT [NCIT:C6287] synonym: "endometrioid carcinoma of the endometrium" EXACT [NCIT:C6287] -synonym: "endometrioid endomet. adenocar." EXACT [NCIT:C6287] -synonym: "endometrioid endometrial adenocarcinoma" EXACT [NCIT:C6287] +synonym: "endometrioid endomet. adenocar." EXACT [] +synonym: "endometrioid endometrial adenocarcinoma" EXACT [] synonym: "uterine corpus endometrioid adenocarcinoma" EXACT [NCIT:C6287] synonym: "uterine corpus endometrioid carcinoma" EXACT [NCIT:C6287] synonym: "uterine endometrioid carcinoma" RELATED [ONCOTREE:UEC] @@ -122517,12 +122524,12 @@ name: endometrial serous adenocarcinoma def: "A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor." [NCIT:C27838] subset: otar {source="MONDO:OTAR"} synonym: "body of uterus serous adenocarcinoma" EXACT [MONDO:patterns/location] -synonym: "endometrial serous adenocarcinoma" EXACT [NCIT:C27838] -synonym: "serous endometrial adenocarcinoma" EXACT [NCIT:C27838] -synonym: "uterine corpus serous adenocarcinoma" EXACT [NCIT:C27838] +synonym: "endometrial serous adenocarcinoma" EXACT [DOID:5750, icd11.foundation:225222541, NCIT:C27838] +synonym: "serous endometrial adenocarcinoma" EXACT [] +synonym: "uterine corpus serous adenocarcinoma" EXACT [DOID:5750, NCIT:C27838] synonym: "uterine papillary serous carcinoma" EXACT [DOID:5750, NCIT:C27838] -synonym: "uterine serous adenocarcinoma" BROAD [DOID:5750, NCIT:C27838] -synonym: "uterine serous carcinoma" BROAD [DOID:5750, NCIT:C27838] +synonym: "uterine serous adenocarcinoma" BROAD [] +synonym: "uterine serous carcinoma" BROAD [] synonym: "uterine serous carcinoma/uterine papillary serous carcinoma" RELATED [ONCOTREE:USC] synonym: "uterine serous papillary adenocarcinoma" EXACT [NCIT:C27838] xref: DOID:5750 {source="MONDO:equivalentTo"} @@ -122545,7 +122552,7 @@ def: "A primary carcinoma of the endometrium that is similar to the small cell c subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "endometrial small cell carcinoma" EXACT [NCIT:C40155] +synonym: "endometrial small cell carcinoma" EXACT [DOID:7139, icd11.foundation:845680139, NCIT:C40155] synonym: "endometrium small cell carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "small cell carcinoma of endometrium" EXACT [MONDO:design_pattern] xref: DOID:7139 {source="MONDO:equivalentTo"} @@ -122564,7 +122571,7 @@ id: MONDO:0006198 name: endometrial squamous cell carcinoma def: "A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells." [NCIT:C8719] subset: otar {source="MONDO:OTAR"} -synonym: "endometrial squamous cell carcinoma" EXACT [NCIT:C8719] +synonym: "endometrial squamous cell carcinoma" EXACT [DOID:5533, icd11.foundation:1130568776, NCIT:C8719] synonym: "endometrium squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "squamous cell carcinoma of endometrium" EXACT [DOID:5533, NCIT:C8719] synonym: "squamous cell carcinoma of the endometrium" EXACT [NCIT:C8719] @@ -122584,7 +122591,7 @@ id: MONDO:0006199 name: endometrial undifferentiated carcinoma def: "A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation." [NCIT:C40156] subset: otar {source="MONDO:OTAR"} -synonym: "endometrial undifferentiated carcinoma" EXACT [NCIT:C40156] +synonym: "endometrial undifferentiated carcinoma" EXACT [icd11.foundation:130578959, NCIT:C40156] synonym: "undifferentiated endometrial carcinoma" EXACT [NCIT:C40156] xref: EFO:1000242 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:130578959 {source="MONDO:equivalentTo"} @@ -122607,7 +122614,7 @@ subset: rare synonym: "epithelioid cell melanoma of uvea" EXACT [MONDO:design_pattern] synonym: "epithelioid cell uveal melanoma" EXACT [NCIT:C35780] synonym: "uvea epithelioid cell melanoma" EXACT [MONDO:patterns/location] -synonym: "uveal epithelioid cell melanoma" EXACT [MONDO:0004084, NCIT:C35780] +synonym: "uveal epithelioid cell melanoma" EXACT [DOID:7040, MONDO:0004084, NCIT:C35780] xref: DOID:7040 {source="MONDO:equivalentTo"} xref: EFO:1000244 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:234223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -122645,10 +122652,10 @@ def: "A carcinoma that arises from the extrahepatic bile ducts. It is characteri subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenosquamous bile duct carcinoma" NARROW [NCIT:C5778] -synonym: "adenosquamous carcinoma of bile duct" NARROW [NCIT:C5778] -synonym: "adenosquamous carcinoma of the bile duct" NARROW [NCIT:C5778] -synonym: "bile duct adenosquamous carcinoma" NARROW [NCIT:C5778] +synonym: "adenosquamous bile duct carcinoma" NARROW [] +synonym: "adenosquamous carcinoma of bile duct" NARROW [] +synonym: "adenosquamous carcinoma of the bile duct" NARROW [] +synonym: "bile duct adenosquamous carcinoma" NARROW [] synonym: "extrahepatic bile duct adenosquamous carcinoma" EXACT [MONDO:patterns/location, NCIT:C5778] xref: EFO:1000247 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: NCIT:C5778 {source="MONDO:equivalentTo", source="EFO:1000247"} @@ -122665,11 +122672,11 @@ def: "A carcinoma that arises from the extrahepatic bile ducts. It is composed e subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bile duct squamous cell carcinoma" BROAD [NCIT:C5777] +synonym: "bile duct squamous cell carcinoma" BROAD [] synonym: "extrahepatic bile duct squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C5777] -synonym: "squamous cell bile duct carcinoma" BROAD [NCIT:C5777] -synonym: "squamous cell carcinoma of bile duct" BROAD [NCIT:C5777] -synonym: "squamous cell carcinoma of the bile duct" BROAD [NCIT:C5777] +synonym: "squamous cell bile duct carcinoma" BROAD [] +synonym: "squamous cell carcinoma of bile duct" BROAD [] +synonym: "squamous cell carcinoma of the bile duct" BROAD [] xref: EFO:1000248 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: NCIT:C5777 {source="MONDO:equivalentTo", source="EFO:1000248"} is_a: MONDO:0003090 {source="MONDO:Redundant", source="NCIT:C5777"} ! extrahepatic bile duct carcinoma @@ -122696,13 +122703,13 @@ def: "A carcinoma that arises from epithelial cells of the fallopian tube." [htt subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of fallopian tube" BROAD [NCIT:C3867] -synonym: "cancer of the fallopian tube" BROAD [DOID:1963, NCIT:C3867] -synonym: "carcinoma of fallopian tube" EXACT [MONDO:patterns/carcinoma, NCIT:C3867] +synonym: "cancer of fallopian tube" BROAD [] +synonym: "cancer of the fallopian tube" BROAD [] +synonym: "carcinoma of fallopian tube" EXACT [DOID:1963, MONDO:patterns/carcinoma, NCIT:C3867] synonym: "carcinoma of the fallopian tube" EXACT [NCIT:C3867] synonym: "fallopian tube Ca" EXACT [DOID:1963] -synonym: "fallopian tube cancer" BROAD [NCIT:C3867] -synonym: "fallopian tube carcinoma" EXACT [MONDO:patterns/location, NCIT:C3867] +synonym: "fallopian tube cancer" BROAD [] +synonym: "fallopian tube carcinoma" EXACT [DOID:1963, MONDO:patterns/location, NCIT:C3867] xref: DOID:1963 {source="MONDO:equivalentTo"} xref: EFO:1000251 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:66762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -122725,8 +122732,8 @@ def: "A carcinosarcoma that arises from the fallopian tube. It usually affects p subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fallopian tube carcinosarcoma" EXACT [MONDO:patterns/location] -synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumor" EXACT [DOID:1970] +synonym: "fallopian tube carcinosarcoma" EXACT [DOID:1970, MONDO:patterns/location, NCIT:C40124] +synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumor" EXACT [DOID:1970, NCIT:C40124] synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumour" EXACT OMO:0003005 [] synonym: "fallopian tube malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C40124] synonym: "fallopian tube malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] @@ -122749,7 +122756,7 @@ def: "A serous adenocarcinoma that arises from the fallopian tube. It is usually subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fallopian tube serous adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C40099] +synonym: "fallopian tube serous adenocarcinoma" EXACT [DOID:5598, MONDO:patterns/location, NCIT:C40099] xref: DOID:5598 {source="MONDO:equivalentTo"} xref: EFO:1000253 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:274490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -122799,18 +122806,18 @@ synonym: "eosinophilic glassy cell hepatoma" RELATED [GARD:0009396] synonym: "eosinophilic hepatocellular carcinoma with lamellar fibrosis" RELATED [GARD:0009396] synonym: "FHCC" EXACT ABBREVIATION [Orphanet:401920] synonym: "fibrolamellar cancer" EXACT [NCIT:C4131] -synonym: "fibrolamellar carcinoma" EXACT [MONDO:0018427, NCIT:C4131] +synonym: "fibrolamellar carcinoma" EXACT [DOID:5015, MONDO:0018427, NCIT:C4131] synonym: "fibrolamellar carcinoma of liver cells" EXACT [NCIT:C4131] synonym: "fibrolamellar carcinoma of the liver cells" EXACT [NCIT:C4131] synonym: "fibrolamellar hepatocarcinoma" EXACT [Orphanet:401920] -synonym: "fibrolamellar hepatocellular carcinoma" EXACT [DOID:5015, NCIT:C4131] +synonym: "fibrolamellar hepatocellular carcinoma" EXACT [DOID:5015, NCIT:C4131, Orphanet:401920] synonym: "fibrolamellar oncocytic hepatoma" RELATED [GARD:0009396] synonym: "fibrolamellar variant of hepatocellular carcinoma" RELATED [GARD:0009396] synonym: "FL-HCC" RELATED [GARD:0009396] synonym: "FLC" EXACT ABBREVIATION [NCIT:C4131, ONCOTREE:FLC] synonym: "hepatocellular carcinoma (fibrolamellar variant)" RELATED [GARD:0009396] synonym: "hepatocellular carcinoma with increased stromal fibrosis" RELATED [GARD:0009396] -synonym: "hepatocellular carcinoma, fibrolamellar" EXACT [DOID:5015] +synonym: "hepatocellular carcinoma, fibrolamellar" EXACT [DOID:5015, NCIT:C4131] synonym: "hepatocellular fibrolamellar carcinoma" EXACT [NCIT:C4131] synonym: "liver cell fibrolamellar carcinoma" EXACT [NCIT:C4131] synonym: "oncocytic hepatocellular tumor" EXACT [DOID:5015, NCIT:C4131] @@ -122839,7 +122846,7 @@ name: fibrous hamartoma of infancy def: "A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "fibrous hamartoma" EXACT [NCIT:C3942] -synonym: "fibrous hamartoma of infancy" EXACT [NCIT:C3942] +synonym: "fibrous hamartoma of infancy" EXACT [icd11.foundation:1496992098, NCIT:C3942] synonym: "infantile fibrous hamartoma" EXACT [NCIT:C3942] xref: EFO:1000257 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1496992098 {source="MONDO:equivalentTo"} @@ -122908,7 +122915,7 @@ subset: rare synonym: "adenocarcinoma of gallbladder" EXACT [NCIT:C9166] synonym: "adenocarcinoma of the gallbladder" EXACT [DOID:3500, NCIT:C9166] synonym: "gall bladder adenocarcinoma" EXACT [MONDO:patterns/location] -synonym: "gallbladder adenocarcinoma" EXACT [NCIT:C9166] +synonym: "gallbladder adenocarcinoma" EXACT [DOID:3500, NCIT:C9166] xref: DOID:3500 {source="MONDO:equivalentTo"} xref: EFO:1000262 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:76009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -122927,7 +122934,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "adenoma of gallbladder" EXACT [NCIT:C7720] synonym: "adenoma of the gallbladder" EXACT [NCIT:C7720] synonym: "gall bladder adenoma" EXACT [MONDO:patterns/location] -synonym: "gallbladder adenoma" EXACT [NCIT:C7720] +synonym: "gallbladder adenoma" EXACT [DOID:0050893, NCIT:C7720] xref: DOID:0050893 {source="MONDO:equivalentTo"} xref: EFO:1000263 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:116046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -122948,9 +122955,9 @@ def: "A carcinoma that arises from the gallbladder. It is characterized by the p subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenosquamous carcinoma of gallbladder" EXACT [DOID:5627, NCIT:C7356] +synonym: "adenosquamous carcinoma of gallbladder" EXACT [NCIT:C7356] synonym: "adenosquamous carcinoma of the gallbladder" EXACT [DOID:5627, NCIT:C7356] -synonym: "adenosquamous gallbladder carcinoma" EXACT [MONDO:0003552] +synonym: "adenosquamous gallbladder carcinoma" EXACT [DOID:5627, MONDO:0003552] synonym: "gall bladder adenosquamous carcinoma" EXACT [MONDO:patterns/location] synonym: "gallbladder adenosquamous cancer" EXACT [NCIT:C7356] synonym: "gallbladder adenosquamous carcinoma" EXACT [NCIT:C7356] @@ -122997,7 +123004,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "gall bladder small cell carcinoma" EXACT [MONDO:patterns/location] synonym: "gallbladder Oat cell carcinoma" EXACT [NCIT:C6763] -synonym: "gallbladder small cell carcinoma" EXACT [MONDO:0004115, NCIT:C6763] +synonym: "gallbladder small cell carcinoma" EXACT [DOID:7133, MONDO:0004115, NCIT:C6763] synonym: "gallbladder small cell NEC" EXACT [NCIT:C6763] synonym: "gallbladder small cell neuroendocrine carcinoma" EXACT [NCIT:C6763] synonym: "Oat cell carcinoma of gallbladder" EXACT [NCIT:C6763] @@ -123027,9 +123034,9 @@ synonym: "epidermoid carcinoma of the gallbladder" EXACT [NCIT:C9170] synonym: "epidermoid gallbladder carcinoma" EXACT [DOID:5535, NCIT:C9170] synonym: "gall bladder squamous cell carcinoma" EXACT [MONDO:patterns/location] synonym: "gallbladder squamous cell cancer" EXACT [NCIT:C9170] -synonym: "gallbladder squamous cell carcinoma" EXACT [NCIT:C9170] +synonym: "gallbladder squamous cell carcinoma" EXACT [DOID:5535, NCIT:C9170] synonym: "squamous cell carcinoma of gallbladder" EXACT [NCIT:C9170] -synonym: "squamous cell carcinoma of the gallbladder" EXACT [DOID:5535, NCIT:C9170] +synonym: "squamous cell carcinoma of the gallbladder" EXACT [NCIT:C9170] synonym: "squamous cell gallbladder carcinoma" EXACT [NCIT:C9170] xref: DOID:5535 {source="MONDO:equivalentTo"} xref: EFO:1000267 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -123177,14 +123184,14 @@ def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) th subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gastric carcinoid tumor" EXACT [NCIT:C4635] +synonym: "gastric carcinoid tumor" EXACT [] synonym: "gastric carcinoid tumour" EXACT OMO:0003005 [] synonym: "gastric ECL cell NET" EXACT [NCIT:C4635] synonym: "gastric ECL cell NET G1" EXACT [NCIT:C4635] synonym: "gastric ECL cell, histamine-producing NET" EXACT [NCIT:C4635] -synonym: "gastric ECL-cell carcinoid tumor" EXACT [NCIT:C4635] +synonym: "gastric ECL-cell carcinoid tumor" EXACT [] synonym: "gastric ECL-cell carcinoid tumour" EXACT OMO:0003005 [] -synonym: "gastric enterochromaffin-like cell carcinoid tumor" EXACT [NCIT:C4635] +synonym: "gastric enterochromaffin-like cell carcinoid tumor" EXACT [] synonym: "gastric enterochromaffin-like cell carcinoid tumour" EXACT OMO:0003005 [] synonym: "gastric enterochromaffin-like cell neuroendocrine tumor" EXACT [NCIT:C4635] synonym: "gastric enterochromaffin-like cell neuroendocrine tumour" EXACT OMO:0003005 [] @@ -123210,7 +123217,7 @@ id: MONDO:0006228 name: gastric papillary adenocarcinoma def: "A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores." [NCIT:C5472] subset: otar {source="MONDO:OTAR"} -synonym: "gastric papillary adenocarcinoma" EXACT [NCIT:C5472] +synonym: "gastric papillary adenocarcinoma" EXACT [DOID:5593, NCIT:C5472] synonym: "papillary adenocarcinoma of stomach" EXACT [DOID:5593, NCIT:C5472] synonym: "papillary adenocarcinoma of the stomach" EXACT [NCIT:C5472] synonym: "papillary stomach adenocarcinoma" RELATED [ONCOTREE:PSTAD] @@ -123234,7 +123241,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "gastric Oat cell carcinoma" EXACT [NCIT:C6764] -synonym: "gastric small cell carcinoma" EXACT [MONDO:0003920, NCIT:C6764] +synonym: "gastric small cell carcinoma" EXACT [DOID:6552, MONDO:0003920, NCIT:C6764] synonym: "gastric small cell neuroendocrine carcinoma" EXACT [NCIT:C6764] synonym: "Oat cell carcinoma of stomach" EXACT [NCIT:C6764] synonym: "Oat cell carcinoma of the stomach" EXACT [NCIT:C6764] @@ -123264,9 +123271,9 @@ subset: orphanet_rare {source="Orphanet:418959"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "gastric (stomach) squamous cell cancer" EXACT [NCIT:C5475] -synonym: "gastric squamous cell carcinoma" EXACT [NCIT:C5475, Orphanet:418959] +synonym: "gastric squamous cell carcinoma" EXACT [DOID:5516, NCIT:C5475, Orphanet:418959] synonym: "squamous cell carcinoma of stomach" EXACT [DOID:5516, MONDO:0018482, NCIT:C5475] -synonym: "squamous cell carcinoma of the stomach" EXACT [NCIT:C5475] +synonym: "squamous cell carcinoma of the stomach" EXACT [NCIT:C5475, Orphanet:418959] synonym: "stomach squamous cell carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5516 {source="MONDO:equivalentTo"} xref: EFO:1000278 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -123309,7 +123316,7 @@ id: MONDO:0006232 name: giant cell tumor of soft tissue def: "A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes." [NCIT:C49107] subset: otar {source="MONDO:OTAR"} -synonym: "GCT-ST" EXACT [NCIT:C49107] +synonym: "GCT-ST" EXACT ABBREVIATION [NCIT:C49107] synonym: "giant cell tumor of soft tissue" EXACT [NCIT:C49107] synonym: "Osteoclastoma of soft tissue" EXACT [NCIT:C49107] xref: EFO:1000281 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -123345,14 +123352,15 @@ def: "High grade prostatic intraepithelial neoplasia characterized by the presen subset: otar {source="MONDO:OTAR"} synonym: "adenocarcinoma in situ of prostate" EXACT [NCIT:C3642] synonym: "adenocarcinoma in situ of the prostate" EXACT [NCIT:C3642] -synonym: "carcinoma in situ of prostate" EXACT [DOID:8634] +synonym: "carcinoma in situ of prostate" EXACT [DOID:8634, ICD10CM:D07.5] synonym: "carcinoma in situ of prostate gland" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "grade 3 pin" EXACT [NCIT:C3642] synonym: "grade 3 prostatic intraepithelial neoplasia" EXACT [NCIT:C3642] synonym: "grade III pin" EXACT [DOID:8634, NCIT:C3642] -synonym: "pin III" EXACT [DOID:8634] +synonym: "PIN III" EXACT ABBREVIATION [DOID:8634] +synonym: "pin III" EXACT [NCIT:C3642] synonym: "prostate adenocarcinoma in situ" EXACT [NCIT:C3642] -synonym: "prostate carcinoma in situ" EXACT [MONDO:0004623] +synonym: "prostate carcinoma in situ" EXACT [DOID:8634, MONDO:0004623] synonym: "prostate gland carcinoma in situ" EXACT [] synonym: "prostate gland in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 prostate gland carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] @@ -123397,18 +123405,18 @@ synonym: "GCT" RELATED ABBREVIATION [ONCOTREE:GCT] synonym: "giant granulocellular Abrikosov's tumor" RELATED [GARD:0009618] synonym: "giant granulocellular Abrikosov's tumour" RELATED OMO:0003005 [] synonym: "granular cell myoblastoma" EXACT [NCIT:C3474] -synonym: "granular cell neoplasm" EXACT [NCIT:C3474] +synonym: "granular cell neoplasm" EXACT [] synonym: "granular cell nerve sheath tumor" EXACT [NCIT:C3474] synonym: "granular cell nerve sheath tumour" EXACT OMO:0003005 [] synonym: "granular cell schwannoma" EXACT [NCIT:C3474] -synonym: "granular cell tumor" EXACT [NCIT:C3474] -synonym: "granular cell tumor (morphologic abnormality)" EXACT [DOID:2411] -synonym: "granular cell tumor NOS (morphologic abnormality)" NARROW [DOID:2411] +synonym: "granular cell tumor" EXACT [DOID:2411, NCIT:C3474] +synonym: "granular cell tumor (morphologic abnormality)" EXACT [] +synonym: "granular cell tumor NOS (morphologic abnormality)" NARROW [] synonym: "granular cell tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "granular cell tumour NOS (morphologic abnormality)" NARROW OMO:0003005 [] synonym: "malignant variant of Abrikosov's tumor" RELATED [GARD:0009618] synonym: "malignant variant of Abrikosov's tumour" RELATED OMO:0003005 [] -synonym: "neoplasm of granular cell" NARROW [DOID:2411, NCIT:C3474] +synonym: "neoplasm of granular cell" NARROW [] xref: DOID:2411 {source="MONDO:equivalentTo"} xref: EFO:1000284 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9618 {source="MONDO:GARD"} @@ -123460,25 +123468,25 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:96256"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GH cell adenoma" EXACT [NCIT:C7461] -synonym: "growth hormone producing adenoma of pituitary" EXACT [NCIT:C7461] +synonym: "GH cell adenoma" EXACT [] +synonym: "growth hormone producing adenoma of pituitary" EXACT [] synonym: "growth hormone producing adenoma of pituitary gland" EXACT [NCIT:C7461] -synonym: "growth hormone producing adenoma of the pituitary" EXACT [DOID:6255, NCIT:C7461] -synonym: "growth hormone producing adenoma of the pituitary gland" EXACT [NCIT:C7461] +synonym: "growth hormone producing adenoma of the pituitary" EXACT [DOID:6255] +synonym: "growth hormone producing adenoma of the pituitary gland" EXACT [] synonym: "growth hormone producing pituitary adenoma" EXACT [NCIT:C7461] synonym: "growth hormone producing pituitary gland adenoma" EXACT [NCIT:C7461] synonym: "growth hormone secreting adenoma of pituitary" EXACT [DOID:6255, NCIT:C7461] synonym: "growth hormone secreting adenoma of pituitary gland" EXACT [NCIT:C7461] -synonym: "growth hormone secreting adenoma of the pituitary" EXACT [NCIT:C7461] +synonym: "growth hormone secreting adenoma of the pituitary" EXACT [] synonym: "growth hormone secreting adenoma of the pituitary gland" EXACT [NCIT:C7461] -synonym: "growth hormone secreting pituitary adenoma" EXACT [NCIT:C7461] +synonym: "growth hormone secreting pituitary adenoma" EXACT [DOID:6255] synonym: "growth hormone secreting pituitary gland adenoma" EXACT [NCIT:C7461] -synonym: "growth hormone-producing adenoma" EXACT [NCIT:C7461] +synonym: "growth hormone-producing adenoma" EXACT [] synonym: "growth hormone-producing pituitary gland adenoma" EXACT [NCIT:C7461] synonym: "somatotrope adenoma" EXACT [NCIT:C7461] -synonym: "somatotroph adenoma" EXACT [DOID:6255, NCIT:C7461] +synonym: "somatotroph adenoma" EXACT [DOID:6255] synonym: "Somatotrophinoma" EXACT [NCIT:C7461] -synonym: "somatotropic adenoma" RELATED [Orphanet:96256] +synonym: "somatotropic adenoma" RELATED [] xref: DOID:6255 {source="MONDO:equivalentTo"} xref: EFO:1000287 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:16850 {source="MONDO:GARD"} @@ -123553,7 +123561,7 @@ name: hepatoid adenocarcinoma def: "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." [NCIT:C66950] comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) subset: otar {source="MONDO:OTAR"} -synonym: "hepatoid adenocarcinoma" EXACT [NCIT:C66950] +synonym: "hepatoid adenocarcinoma" EXACT [DOID:0060534, NCIT:C66950] synonym: "hepatoid carcinoma" EXACT [NCIT:C66950] xref: DOID:0060534 {source="MONDO:equivalentTo"} xref: EFO:1000293 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -123576,7 +123584,7 @@ synonym: "HER2 Overexpressing breast carcinoma" EXACT [NCIT:C53556] synonym: "HER2 Overexpressing subtype of breast carcinoma" EXACT [NCIT:C53556] synonym: "HER2 Positive breast cancer" EXACT [NCIT:C53556] synonym: "HER2 positive breast carcinoma" EXACT [NCIT:C53556] -synonym: "Her2-receptor positive breast cancer" EXACT [MONDO:0000617] +synonym: "Her2-receptor positive breast cancer" EXACT [DOID:0060079, MONDO:0000617] xref: DOID:0060079 {source="MONDO:equivalentTo"} xref: EFO:1000294 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:743175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -123632,11 +123640,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:98287"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "histiocytic and dendritic cell" RELATED [DOID:5621] -synonym: "histiocytic and dendritic cell cancer" RELATED [DOID:5621] +synonym: "histiocytic and dendritic cell" RELATED [] +synonym: "histiocytic and dendritic cell cancer" RELATED [] synonym: "histiocytic and dendritic cell neoplasm" EXACT [NCIT:C9294] synonym: "histiocytic and Dendritic cell neoplasms" EXACT [NCIT:C9294] -synonym: "histiocytic and dendritic cell tumor" RELATED [Orphanet:98287] +synonym: "histiocytic and dendritic cell tumor" RELATED [] synonym: "histiocytic and Dendritic cell tumors" EXACT [NCIT:C9294] synonym: "histiocytic and dendritic cell tumour" RELATED OMO:0003005 [] synonym: "histiocytic and Dendritic cell tumours" EXACT OMO:0003005 [] @@ -123661,10 +123669,10 @@ subset: orphanet_rare {source="Orphanet:99927"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hydatid mole" EXACT [NCIT:C3110] -synonym: "hydatidiform mole" EXACT [MONDO:0020551, NCIT:C3110] -synonym: "hydatidiform mole, recurrent" RELATED [OMIMPS:231090] +synonym: "hydatidiform mole" EXACT [MONDO:0020551, NCIT:C3110, Orphanet:99927] +synonym: "hydatidiform mole, recurrent" RELATED [] synonym: "HYDM" RELATED ABBREVIATION [GARD:0010263] -synonym: "molar pregnancy" EXACT [NCIT:C3110, Orphanet:99927] +synonym: "molar pregnancy" EXACT [icd11.foundation:946166369, NCIT:C3110, Orphanet:99927] xref: EFO:1000298 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10263 {source="MONDO:GARD"} xref: ICD10CM:O00-O08 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -123712,12 +123720,12 @@ def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) th subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoid tumor of ileum" EXACT [NCIT:C4935] -synonym: "carcinoid tumor of the ileum" EXACT [NCIT:C4935] +synonym: "carcinoid tumor of ileum" EXACT [] +synonym: "carcinoid tumor of the ileum" EXACT [] synonym: "carcinoid tumour of ileum" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the ileum" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of ileum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] -synonym: "ileal carcinoid tumor" EXACT [NCIT:C4935] +synonym: "ileal carcinoid tumor" EXACT [] synonym: "ileal carcinoid tumour" EXACT OMO:0003005 [] synonym: "ileal NET G1" EXACT [NCIT:C4935] synonym: "ileal neuroendocrine tumor G1" EXACT [NCIT:C4935] @@ -123803,7 +123811,7 @@ name: invasive breast carcinoma def: "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." [NCIT:C9245] subset: otar {source="MONDO:OTAR"} synonym: "BRCA" RELATED ABBREVIATION [ONCOTREE:BRCA] -synonym: "infiltrating breast cancer" EXACT [NCIT:C9245] +synonym: "infiltrating breast cancer" EXACT [] synonym: "infiltrating breast carcinoma" EXACT [NCIT:C9245] synonym: "infiltrating carcinoma of breast" EXACT [NCIT:C9245] synonym: "infiltrating carcinoma of the breast" EXACT [NCIT:C9245] @@ -123831,12 +123839,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoid tumor of jejunum" EXACT [NCIT:C6429] -synonym: "carcinoid tumor of the jejunum" EXACT [NCIT:C6429] +synonym: "carcinoid tumor of jejunum" EXACT [] +synonym: "carcinoid tumor of the jejunum" EXACT [] synonym: "carcinoid tumour of jejunum" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the jejunum" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of jejunum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] -synonym: "jejunal carcinoid tumor" EXACT [NCIT:C6429] +synonym: "jejunal carcinoid tumor" EXACT [] synonym: "jejunal carcinoid tumour" EXACT OMO:0003005 [] synonym: "jejunal NET G1" EXACT [NCIT:C6429] synonym: "jejunum carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -123892,10 +123900,10 @@ subset: orphanet_rare {source="Orphanet:319319"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carcinoma of renal medulla" EXACT [MONDO:patterns/carcinoma] -synonym: "kidney medullary carcinoma" EXACT [NCIT:C7572] +synonym: "kidney medullary carcinoma" EXACT [DOID:0070475, NCIT:C7572] synonym: "renal medulla carcinoma" EXACT [] -synonym: "Renal Medullary Carcinoma" EXACT [NORD:1999] -synonym: "renal medullary carcinoma" EXACT [NCIT:C7572] +synonym: "Renal Medullary Carcinoma" EXACT [DOID:0070475, NCIT:C7572, NORD:1999, Orphanet:319319] +synonym: "renal medullary carcinoma" EXACT [DOID:0070475, NCIT:C7572, Orphanet:319319] xref: DOID:0070475 {source="MONDO:equivalentTo"} xref: EFO:1000314 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:13175 {source="MONDO:GARD"} @@ -123919,9 +123927,9 @@ def: "A adenoid cystic carcinoma that involves the lacrimal gland." [MONDO:patte subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenoid cystic carcinoma of lacrimal gland" EXACT [DOID:4870, NCIT:C4540] +synonym: "adenoid cystic carcinoma of lacrimal gland" EXACT [NCIT:C4540] synonym: "adenoid cystic carcinoma of the lacrimal gland" EXACT [NCIT:C4540] -synonym: "lacrimal gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C4540] +synonym: "lacrimal gland adenoid cystic carcinoma" EXACT [DOID:4870, MONDO:patterns/location, NCIT:C4540] xref: DOID:4870 {source="MONDO:equivalentTo"} xref: EFO:1000317 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:87555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -123949,7 +123957,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenoid cystic carcinoma of larynx" EXACT [DOID:4869, NCIT:C9462] synonym: "adenoid cystic carcinoma of the larynx" EXACT [NCIT:C9462] -synonym: "laryngeal adenoid cystic carcinoma" EXACT [NCIT:C9462] +synonym: "laryngeal adenoid cystic carcinoma" EXACT [DOID:4869, NCIT:C9462] synonym: "laryngeal throat adenoid cystic cancer" EXACT [NCIT:C9462] xref: DOID:4869 {source="MONDO:equivalentTo"} xref: EFO:1000319 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -123968,7 +123976,7 @@ def: "A rare carcinoma that arises from the larynx. It is characterized by the p subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "laryngeal small cell carcinoma" EXACT [NCIT:C6025] +synonym: "laryngeal small cell carcinoma" EXACT [DOID:7144, NCIT:C6025] synonym: "laryngeal throat small cell cancer" EXACT [NCIT:C6025] synonym: "larynx small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6025] synonym: "small cell carcinoma of larynx" EXACT [DOID:7144, NCIT:C6025] @@ -123996,8 +124004,8 @@ synonym: "interstitial cell neoplasm" EXACT [NCIT:C3188] synonym: "interstitial cell tumor" EXACT [NCIT:C3188] synonym: "interstitial cell tumour" EXACT OMO:0003005 [] synonym: "Leydig cell neoplasm" EXACT [DOID:2696, NCIT:C3188] -synonym: "Leydig cell tumor" EXACT [NCIT:C3188] -synonym: "Leydig cell tumor, undetermined" RELATED [NCIT:C3188] +synonym: "Leydig cell tumor" EXACT [DOID:2696, NCIT:C3188] +synonym: "Leydig cell tumor, undetermined" RELATED [] xref: DOID:2696 {source="MONDO:equivalentTo"} xref: EFO:1000321 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8650/1 {source="NCIT:C3188"} @@ -124179,11 +124187,11 @@ name: lung giant cell carcinoma def: "A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "GCLC" RELATED ABBREVIATION [ONCOTREE:GCLC] -synonym: "giant cell carcinoma" BROAD [DOID:5583, NCIT:C3779] +synonym: "giant cell carcinoma" BROAD [] synonym: "giant cell carcinoma of lung" EXACT [NCIT:C4452] synonym: "giant cell carcinoma of the lung" EXACT [NCIT:C4452] -synonym: "giant cell lung carcinoma" EXACT [DOID:5583, NCIT:C4452] -synonym: "lung giant cell carcinoma" EXACT [NCIT:C4452] +synonym: "giant cell lung carcinoma" EXACT [DOID:5583] +synonym: "lung giant cell carcinoma" EXACT [DOID:5583, NCIT:C4452] xref: DOID:5583 {source="MONDO:equivalentTo"} xref: EFO:1000332 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -124229,12 +124237,12 @@ subset: ordo_disorder {source="Orphanet:538"} subset: orphanet_rare {source="Orphanet:538"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lung lymphangioleiomyomatosis" EXACT [MONDO:patterns/location, NCIT:C38153] +synonym: "lung lymphangioleiomyomatosis" EXACT [DOID:3319, MONDO:patterns/location, NCIT:C38153] synonym: "lung lymphangiomyomatosis" EXACT [NCIT:C38153] synonym: "Lymphangioleiomyomatosis" BROAD [NORD:1381] -synonym: "lymphangioleiomyomatosis" BROAD [DOID:3319] -synonym: "lymphangiomyomatosis" RELATED EXCLUDE [DOID:3319] -synonym: "pulmonary lymphangioleiomyomatosis" EXACT [] +synonym: "lymphangioleiomyomatosis" BROAD [] +synonym: "lymphangiomyomatosis" RELATED EXCLUDE [] +synonym: "pulmonary lymphangioleiomyomatosis" EXACT [DOID:3319] synonym: "pulmonary lymphangiomyomatosis" RELATED [ONCOTREE:LAM] xref: DOID:3319 {source="MONDO:equivalentTo"} xref: EFO:1000334 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -124283,7 +124291,7 @@ id: MONDO:0006279 name: lung sarcomatoid carcinoma def: "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." [NCIT:C45540] subset: otar {source="MONDO:OTAR"} -synonym: "lung sarcomatoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C45540] +synonym: "lung sarcomatoid carcinoma" EXACT [DOID:0080777, MONDO:patterns/location, NCIT:C45540] synonym: "sarcomatoid carcinoma of the lung" RELATED [ONCOTREE:SARCL] xref: DOID:0080777 {source="MONDO:equivalentTo"} xref: EFO:1000336 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -124309,7 +124317,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "lung sclerosing angioma" EXACT [NCIT:C5656] synonym: "lung sclerosing hemangioma" EXACT [NCIT:C5656] synonym: "Pneumocytoma" EXACT [DOID:5766, NCIT:C5656] -synonym: "pulmonary sclerosing hemangioma" RELATED [DOID:5766] +synonym: "pulmonary sclerosing hemangioma" RELATED [] synonym: "sclerosing angioma of lung" EXACT [NCIT:C5656] synonym: "sclerosing angioma of the lung" EXACT [NCIT:C5656] synonym: "sclerosing haemangioma" EXACT [DOID:495] @@ -124341,8 +124349,8 @@ def: "A morphologic variant of lung adenocarcinoma characterized by the presence subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lung signet ring cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "signet ring lung adenocarcinoma" RELATED [DOID:0080305] +synonym: "lung signet ring cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C45514] +synonym: "signet ring lung adenocarcinoma" RELATED [] xref: DOID:0080305 {source="MONDO:equivalentTo"} xref: EFO:1000338 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:162.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -124361,11 +124369,11 @@ name: lymphangiosarcoma def: "A malignant neoplasm arising from the endothelial cells of the lymphatic vessels." [NCIT:C3205] subset: otar {source="MONDO:OTAR"} synonym: "lymphangioendothelial sarcoma" EXACT [NCIT:C3205] -synonym: "lymphangiosarcoma" EXACT [NCIT:C3205] -synonym: "lymphangiosarcoma of Stewart and Treves" RELATED [DOID:2689, NCIT:C4490] +synonym: "lymphangiosarcoma" EXACT [DOID:2689, NCIT:C3205] +synonym: "lymphangiosarcoma of Stewart and Treves" RELATED [] synonym: "lymphangiosarcoma, malignant" EXACT [NCIT:C3205] synonym: "malignant lymphangioendothelioma" EXACT [DOID:2689, NCIT:C3205] -synonym: "skin lymphangiosarcoma" RELATED EXCLUDE [DOID:2689] +synonym: "skin lymphangiosarcoma" RELATED EXCLUDE [] synonym: "Stewart-Treves syndrome" EXACT [DOID:2689] xref: DOID:2689 {source="MONDO:equivalentTo"} xref: EFO:1000339 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -124405,9 +124413,9 @@ name: major salivary gland carcinoma def: "A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland." [NCIT:C5907] subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of Major salivary gland" EXACT [NCIT:C5907] -synonym: "carcinoma of major salivary gland" EXACT [MONDO:patterns/carcinoma] +synonym: "carcinoma of major salivary gland" EXACT [MONDO:patterns/carcinoma, NCIT:C5907] synonym: "carcinoma of the major salivary gland" EXACT [NCIT:C5907] -synonym: "major salivary gland cancer" BROAD [NCIT:C5907] +synonym: "major salivary gland cancer" BROAD [] synonym: "major salivary gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C5907] xref: EFO:1000344 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:235287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -124465,14 +124473,14 @@ def: "A malignant tumor that arises from the bone. It is characterized by the pr subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone giant cell sarcoma" EXACT [MONDO:0003114] +synonym: "bone giant cell sarcoma" EXACT [DOID:4719, MONDO:0003114] synonym: "Dedifferentiated giant cell tumor" EXACT [NCIT:C4304] synonym: "Dedifferentiated giant cell tumour" EXACT OMO:0003005 [] synonym: "giant cell bone sarcoma" EXACT [NCIT:C4304] synonym: "giant cell sarcoma of bone" EXACT [NCIT:C4304] synonym: "giant cell sarcoma of the bone" EXACT [DOID:4719, NCIT:C4304] -synonym: "giant cell tumor of bone, malignant" EXACT [DOID:4719] -synonym: "giant cell tumor of bone, malignant (morphologic abnormality)" EXACT [DOID:4719] +synonym: "giant cell tumor of bone, malignant" EXACT [DOID:4719, NCIT:C4304] +synonym: "giant cell tumor of bone, malignant (morphologic abnormality)" EXACT [] synonym: "giant cell tumour of bone, malignant" EXACT OMO:0003005 [] synonym: "giant cell tumour of bone, malignant (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "malignancy in giant cell tumor of bone" EXACT [NCIT:C4304] @@ -124511,9 +124519,9 @@ synonym: "malignant adrenal gland pheochromocytoma" EXACT [NCIT:C4220] synonym: "malignant adrenal medullary paraganglioma" EXACT [NCIT:C4220] synonym: "malignant adrenal medullary pheochromocytoma" EXACT [NCIT:C4220] synonym: "malignant adrenal pheochromocytoma" EXACT [NCIT:C4220] -synonym: "malignant pheochromocytoma" EXACT [NCIT:C4220] +synonym: "malignant pheochromocytoma" EXACT [DOID:0080347, NCIT:C4220] synonym: "pheochromoblastoma" EXACT [NCIT:C4220] -synonym: "pheochromocytoma, malignant" EXACT [NCIT:C4220] +synonym: "pheochromocytoma, malignant" EXACT [DOID:0080347, NCIT:C4220] xref: DOID:0080347 {source="MONDO:equivalentTo"} xref: EFO:1000348 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8700/3 {source="NCIT:C4220"} @@ -124541,7 +124549,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cancer of germ cell" EXACT [MONDO:patterns/cancer] synonym: "germ cell cancer" EXACT [MONDO:patterns/location] -synonym: "germ cell cancer, NOS" RELATED EXCLUDE [NCIT:C4925] +synonym: "germ cell cancer, NOS" RELATED EXCLUDE [] synonym: "germ cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant germ cell neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4925] synonym: "malignant germ cell tumor" EXACT [NCIT:C4925] @@ -124579,7 +124587,7 @@ synonym: "malignant neoplasm of glomus jugulare" EXACT [NCIT:C4623] synonym: "malignant neoplasm of jugular body" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the glomus jugulare" EXACT [NCIT:C4623] synonym: "malignant tumor of glomus jugulare" EXACT [NCIT:C4623] -synonym: "malignant tumor of the glomus jugulare" EXACT [NCIT:C4623] +synonym: "malignant tumor of the glomus jugulare" EXACT [] synonym: "malignant tumour of glomus jugulare" EXACT OMO:0003005 [] synonym: "malignant tumour of the glomus jugulare" EXACT OMO:0003005 [] xref: MEDGEN:87584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -124600,13 +124608,13 @@ subset: ordo_disorder {source="Orphanet:50251"} subset: orphanet_rare {source="Orphanet:50251"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "advanced malignant mesothelioma" NARROW [DOID:1790] -synonym: "asbestos-related malignant mesothelioma" NARROW [DOID:1790] -synonym: "diffuse malignant mesothelioma" NARROW [DOID:1790, NCIT:C8420] -synonym: "malignant mesothelial neoplasm" NARROW [NCIT:C4456] +synonym: "advanced malignant mesothelioma" NARROW [] +synonym: "asbestos-related malignant mesothelioma" NARROW [] +synonym: "diffuse malignant mesothelioma" NARROW [] +synonym: "malignant mesothelial neoplasm" NARROW [] synonym: "malignant mesothelial tumor" EXACT [NCIT:C4456] synonym: "malignant mesothelial tumour" EXACT OMO:0003005 [] -synonym: "malignant mesothelioma" EXACT [MONDO:ambiguous, NCIT:C4456] +synonym: "malignant mesothelioma" EXACT [DOID:1790, MONDO:ambiguous, NCIT:C4456] synonym: "malignant mesothelioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "malignant neoplasm of mesothelium" EXACT [NCIT:C4456] synonym: "malignant neoplasm of the mesothelium" EXACT [NCIT:C4456] @@ -124614,9 +124622,9 @@ synonym: "malignant tumor of mesothelium" EXACT [DOID:1790, NCIT:C4456] synonym: "malignant tumor of the mesothelium" EXACT [NCIT:C4456] synonym: "malignant tumour of mesothelium" EXACT OMO:0003005 [] synonym: "malignant tumour of the mesothelium" EXACT OMO:0003005 [] -synonym: "MESOM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156240] +synonym: "MESOM" RELATED ABBREVIATION [MONDO:Lexical] synonym: "mesothelioma, malignant" EXACT [MONDO:Lexical, MONDO:patterns/malignant, NCIT:C4456, OMIM:156240] -synonym: "mesothelioma, somatic" EXACT [OMIM:156240, OMIM:genemap2] +synonym: "mesothelioma, somatic" EXACT [] xref: DOID:1790 {source="MONDO:equivalentTo"} xref: EFO:1000355 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7026 {source="MONDO:GARD"} @@ -124656,7 +124664,7 @@ def: "A primary or metastatic malignant neoplasm affecting the pleura. A represe subset: otar {source="MONDO:OTAR"} synonym: "cancer of pleura" EXACT [MONDO:patterns/cancer, NCIT:C3547] synonym: "cancer of the pleura" EXACT [NCIT:C3547] -synonym: "malignant neoplasm of pleura" EXACT [MONDO:patterns/cancer, NCIT:C3547] +synonym: "malignant neoplasm of pleura" EXACT [ICD10CM:C38.4, MONDO:patterns/cancer, NCIT:C3547] synonym: "malignant neoplasm of the pleura" EXACT [NCIT:C3547] synonym: "malignant pleura neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant pleural neoplasm" EXACT [NCIT:C3547] @@ -124666,10 +124674,10 @@ synonym: "malignant tumor of pleura" EXACT [NCIT:C3547] synonym: "malignant tumor of the pleura" EXACT [NCIT:C3547] synonym: "malignant tumour of pleura" EXACT OMO:0003005 [] synonym: "malignant tumour of the pleura" EXACT OMO:0003005 [] -synonym: "neoplasm of pleura" BROAD [DOID:5158] +synonym: "neoplasm of pleura" BROAD [] synonym: "pleura cancer" EXACT [MONDO:patterns/location] -synonym: "pleural cancer" EXACT [MONDO:0003309, NCIT:C3547] -synonym: "pleural tumor" BROAD [DOID:5158, NCIT:C3332] +synonym: "pleural cancer" EXACT [DOID:5158, MONDO:0003309, NCIT:C3547] +synonym: "pleural tumor" BROAD [] synonym: "pleural tumour" BROAD OMO:0003005 [] xref: DOID:5158 {source="MONDO:equivalentTo"} xref: EFO:1000362 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -124703,11 +124711,11 @@ synonym: "cancer of renal system" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of renal system" EXACT [MONDO:patterns/cancer] synonym: "malignant renal system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant urinary system neoplasm" EXACT [NCIT:C9297] -synonym: "malignant urinary tract neoplasm" EXACT [NCIT:C9297] +synonym: "malignant urinary tract neoplasm" EXACT [] synonym: "renal system cancer" EXACT [MONDO:patterns/location] -synonym: "urinary system cancer" EXACT [MONDO:0002827] -synonym: "urothelial tract/bladder cancer, NOS" RELATED EXCLUDE [NCIT:C9297] -synonym: "urothelial/bladder cancer, NOS" RELATED EXCLUDE [NCIT:C9297] +synonym: "urinary system cancer" EXACT [DOID:3996, MONDO:0002827] +synonym: "urothelial tract/bladder cancer, NOS" RELATED EXCLUDE [] +synonym: "urothelial/bladder cancer, NOS" RELATED EXCLUDE [] xref: DOID:3996 {source="MONDO:equivalentTo"} xref: EFO:1000363 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C64-C68 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -124736,9 +124744,9 @@ def: "An adenoid cystic carcinoma that arises from the maxillary sinus. It usual subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenoid cystic carcinoma of maxillary sinus" RELATED [DOID:7198, NCIT:C6239] +synonym: "adenoid cystic carcinoma of maxillary sinus" RELATED [DOID:7198] synonym: "adenoid cystic carcinoma of the maxillary sinus" EXACT [DOID:7198, NCIT:C6239] -synonym: "maxillary sinus adenoid cystic carcinoma" EXACT [MONDO:patterns/location, NCIT:C6239] +synonym: "maxillary sinus adenoid cystic carcinoma" EXACT [DOID:7198, MONDO:patterns/location, NCIT:C6239] xref: DOID:7198 {source="MONDO:equivalentTo"} xref: EFO:1000365 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:233168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -124756,14 +124764,14 @@ def: "An extragonadal malignant germ cell tumor that arises from the mediastinum subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "malignant germ cell neoplasm of mediastinum" RELATED [NCIT:C6446] -synonym: "malignant germ cell neoplasm of the mediastinum" RELATED [NCIT:C6446] -synonym: "malignant germ cell tumor of mediastinum" RELATED [NCIT:C6446] -synonym: "malignant germ cell tumor of the mediastinum" RELATED [NCIT:C6446] +synonym: "malignant germ cell neoplasm of mediastinum" RELATED [] +synonym: "malignant germ cell neoplasm of the mediastinum" RELATED [] +synonym: "malignant germ cell tumor of mediastinum" RELATED [] +synonym: "malignant germ cell tumor of the mediastinum" RELATED [] synonym: "malignant germ cell tumour of mediastinum" RELATED OMO:0003005 [] synonym: "malignant germ cell tumour of the mediastinum" RELATED OMO:0003005 [] -synonym: "malignant mediastinal germ cell neoplasm" RELATED [NCIT:C6446] -synonym: "malignant mediastinal germ cell tumor" EXACT [] +synonym: "malignant mediastinal germ cell neoplasm" RELATED [] +synonym: "malignant mediastinal germ cell tumor" EXACT [NCIT:C6446] synonym: "malignant mediastinal germ cell tumour" EXACT OMO:0003005 [] synonym: "mediastinal germ cell tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "mediastinal malignant germ cell tumor" EXACT [NCIT:C6446] @@ -124793,7 +124801,7 @@ def: "A rare malignant embryonal neoplasm arising from the cerebellum. It is cha subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "medullomyoblastoma" EXACT [DOID:3861] +synonym: "medullomyoblastoma" EXACT [DOID:3861, NCIT:C3706] synonym: "medullomyoblastoma with myogenic differentiation" EXACT [NCIT:C3706] synonym: "MMB" RELATED ABBREVIATION [ONCOTREE:MMB] xref: DOID:3861 {source="MONDO:equivalentTo"} @@ -124812,8 +124820,8 @@ id: MONDO:0006301 name: metanephric adenoma def: "A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients." [NCIT:C27253] subset: otar {source="MONDO:OTAR"} -synonym: "metanephric adenoma" EXACT [NCIT:C27253] -synonym: "metanephric adenoma (morphologic abnormality)" EXACT [DOID:6404] +synonym: "metanephric adenoma" EXACT [DOID:6404, NCIT:C27253] +synonym: "metanephric adenoma (morphologic abnormality)" EXACT [] xref: DOID:6404 {source="MONDO:equivalentTo"} xref: EFO:1000373 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8191/0 {source="NCIT:C27253"} @@ -124845,10 +124853,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "epidermoid carcinoma of middle Ear" EXACT [NCIT:C6086] -synonym: "epidermoid carcinoma of the middle Ear" EXACT [NCIT:C6086] +synonym: "epidermoid carcinoma of the middle Ear" EXACT [DOID:5526, NCIT:C6086] synonym: "epidermoid carcinoma of the middle ear" EXACT [DOID:5526, NCIT:C6086] synonym: "middle Ear epidermoid carcinoma" EXACT [NCIT:C6086] -synonym: "middle ear squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6086] +synonym: "middle ear squamous cell carcinoma" EXACT [DOID:5526, MONDO:patterns/location, NCIT:C6086] synonym: "squamous cell carcinoma of middle Ear" EXACT [NCIT:C6086] synonym: "squamous cell carcinoma of middle ear" RELATED [DOID:5526] synonym: "squamous cell carcinoma of the middle Ear" EXACT [NCIT:C6086] @@ -124933,7 +124941,7 @@ synonym: "MSTAD" RELATED ABBREVIATION [ONCOTREE:MSTAD] synonym: "mucinous adenocarcinoma of stomach" EXACT [NCIT:C5248] synonym: "mucinous adenocarcinoma of the stomach" EXACT [DOID:3716, NCIT:C5248] synonym: "mucinous gastric adenocarcinoma" EXACT [NCIT:C5248] -synonym: "mucinous stomach adenocarcinoma" EXACT [MONDO:0002753, NCIT:C5248] +synonym: "mucinous stomach adenocarcinoma" EXACT [DOID:3716, MONDO:0002753, NCIT:C5248] synonym: "stomach mucinous adenocarcinoma" EXACT [MONDO:patterns/location] xref: DOID:3716 {source="MONDO:equivalentTo"} xref: EFO:1000386 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -124960,21 +124968,21 @@ def: "A category of clonal hematopoietic disorders that have both myelodysplasti subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDS-MPD" BROAD [NCIT:C27262] -synonym: "MDS/MPD" BROAD [NCIT:C27262] -synonym: "MDS/MPN" EXACT [NCIT:C27262, ONCOTREE:MDS%2FMPN] -synonym: "MPD-MDS" EXACT [NCIT:C27262] -synonym: "MPD/MDS" EXACT [NCIT:C27262] +synonym: "MDS-MPD" BROAD [] +synonym: "MDS/MPD" BROAD [] +synonym: "MDS/MPN" EXACT ABBREVIATION [NCIT:C27262, ONCOTREE:MDS%2FMPN] +synonym: "MPD-MDS" EXACT ABBREVIATION [NCIT:C27262] +synonym: "MPD/MDS" EXACT ABBREVIATION [NCIT:C27262] synonym: "myelodysplastic myeloproliferative cancer" EXACT [DOID:4972] -synonym: "myelodysplastic myeloproliferative disease" BROAD [DOID:4972] -synonym: "myelodysplastic/myeloproliferative disease" BROAD [NCIT:C27262] -synonym: "myelodysplastic/myeloproliferative diseases" BROAD [NCIT:C27262] -synonym: "myelodysplastic/myeloproliferative disorder" BROAD [NCIT:C27262] -synonym: "myelodysplastic/myeloproliferative disorders" BROAD [NCIT:C27262] -synonym: "myelodysplastic/myeloproliferative neoplasm" EXACT [NCIT:C27262] +synonym: "myelodysplastic myeloproliferative disease" BROAD [] +synonym: "myelodysplastic/myeloproliferative disease" BROAD [] +synonym: "myelodysplastic/myeloproliferative diseases" BROAD [] +synonym: "myelodysplastic/myeloproliferative disorder" BROAD [] +synonym: "myelodysplastic/myeloproliferative disorders" BROAD [] +synonym: "myelodysplastic/myeloproliferative neoplasm" EXACT [DOID:4972, NCIT:C27262] synonym: "myelodysplastic/myeloproliferative neoplasms" EXACT [ONCOTREE:MDS%2FMPN] -synonym: "myeloproliferative/myelodysplastic disorders" BROAD [NCIT:C27262] -synonym: "myeloproliferative/myelodysplastic syndromes" BROAD [DOID:4972, NCIT:C27262] +synonym: "myeloproliferative/myelodysplastic disorders" BROAD [] +synonym: "myeloproliferative/myelodysplastic syndromes" BROAD [] xref: DOID:4972 {source="MONDO:equivalentTo"} xref: EFO:1000388 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:9975/3 {source="NCIT:C27262"} @@ -124993,10 +125001,10 @@ id: MONDO:0006312 name: myofibroma def: "A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma." [NCIT:C7052] subset: otar {source="MONDO:OTAR"} -synonym: "infantile hemangiopericytoma" RELATED [NCIT:C7052] +synonym: "infantile hemangiopericytoma" RELATED [] synonym: "lipoleiomyoma" EXACT [DOID:4386] synonym: "myofibroma" EXACT [DOID:4386, NCIT:C7052] -synonym: "myofibroma (morphologic abnormality)" EXACT [DOID:4386] +synonym: "myofibroma (morphologic abnormality)" EXACT [] xref: DOID:4386 {source="MONDO:equivalentTo"} xref: EFO:1000389 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8824/0 {source="NCIT:C7052"} @@ -125184,11 +125192,11 @@ synonym: "eye melanoma" EXACT [DOID:1752, NCIT:C8562] synonym: "eye melanoma (disease)" EXACT [MONDO:patterns/location] synonym: "eyeball of camera-type eye melanoma" EXACT [] synonym: "eyeball of camera-type eye melanoma (disease)" EXACT [MONDO:patterns/location] -synonym: "intraocular melanoma" RELATED EXCLUDE [DOID:1752] +synonym: "intraocular melanoma" RELATED EXCLUDE [] synonym: "melanoma (disease) of eyeball of camera-type eye" EXACT [] synonym: "melanoma of eye" EXACT [DOID:1752, NCIT:C8562] synonym: "melanoma of the eye" EXACT [NCIT:C8562] -synonym: "ocular melanoma" EXACT [NCIT:C8562] +synonym: "ocular melanoma" EXACT [DOID:1752, NCIT:C8562] synonym: "OM" RELATED ABBREVIATION [ONCOTREE:OM] xref: DOID:1752 {source="MONDO:equivalentTo"} xref: EFO:1000403 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -125254,17 +125262,17 @@ def: "An olfactory neuroblastoma arising in the paranasal sinus." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Asthesioneuroblastoma" EXACT [DOID:369] -synonym: "Asthesioneuroblastoma (morphologic abnormality)" EXACT [DOID:369] -synonym: "esthesioneuroblastoma" RELATED [NCIT:C3789] -synonym: "esthesioneuroblastoma (morphologic abnormality)" RELATED [DOID:369] -synonym: "Esthesioneuroepithelioma" RELATED [NCIT:C3789] -synonym: "Esthesioneuroepithelioma (morphologic abnormality)" RELATED [DOID:369] -synonym: "Esthesioneuroepithelioma [dup] (morphologic abnormality)" RELATED [DOID:369] +synonym: "Asthesioneuroblastoma" EXACT [DOID:369, icd11.foundation:2007774165] +synonym: "Asthesioneuroblastoma (morphologic abnormality)" EXACT [] +synonym: "esthesioneuroblastoma" RELATED [] +synonym: "esthesioneuroblastoma (morphologic abnormality)" RELATED [] +synonym: "Esthesioneuroepithelioma" RELATED [] +synonym: "Esthesioneuroepithelioma (morphologic abnormality)" RELATED [] +synonym: "Esthesioneuroepithelioma [dup] (morphologic abnormality)" RELATED [] synonym: "olfactory esthesioneuroblastoma" EXACT [DOID:369, NCIT:C3789] -synonym: "olfactory neuroblastoma" EXACT [NCIT:C3789] +synonym: "olfactory neuroblastoma" EXACT [DOID:369, icd11.foundation:2007774165, NCIT:C3789] synonym: "olfactory neuroepithelioma" EXACT [NCIT:C3789] -synonym: "paranasal sinus olfactory neuroblastoma" EXACT [DOID:369, NCIT:C6016] +synonym: "paranasal sinus olfactory neuroblastoma" EXACT [DOID:369] xref: DOID:369 {source="MONDO:equivalentTo", source="EFO:1000407"} xref: EFO:1000407 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:2007774165 {source="MONDO:equivalentTo"} @@ -125291,7 +125299,7 @@ def: "A rare soft tissue tumor of uncertain lineage characterized by the presenc subset: otar {source="MONDO:OTAR"} synonym: "OFMT" EXACT ABBREVIATION [NCIT:C6582, ONCOTREE:OFMT] synonym: "ossifying fibromyxoid neoplasm" EXACT [NCIT:C6582] -synonym: "ossifying fibromyxoid tumor (morphologic abnormality)" EXACT [DOID:2685] +synonym: "ossifying fibromyxoid tumor (morphologic abnormality)" EXACT [] synonym: "ossifying fibromyxoid tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "ossifying fibromyxoma" EXACT [DOID:2685, NCIT:C6582] xref: DOID:2685 {source="MONDO:equivalentTo"} @@ -125344,15 +125352,15 @@ synonym: "endometrioid adenocarcinoma of ovary" EXACT [NCIT:C7979] synonym: "endometrioid adenocarcinoma of the ovary" EXACT [NCIT:C7979] synonym: "endometrioid cancer of ovary" EXACT [NCIT:C7979] synonym: "endometrioid cancer of the ovary" EXACT [NCIT:C7979] -synonym: "endometrioid carcinoma of ovary" EXACT [DOID:5828, NCIT:C7979] +synonym: "endometrioid carcinoma of ovary" EXACT [NCIT:C7979, Orphanet:454723] synonym: "endometrioid carcinoma of the ovary" EXACT [NCIT:C7979] synonym: "endometrioid carcinoma ovary" EXACT [DOID:5828] synonym: "endometrioid ovarian cancer" RELATED [ONCOTREE:EOV] -synonym: "endometrioid ovary carcinoma" EXACT [MONDO:0003662] +synonym: "endometrioid ovary carcinoma" EXACT [DOID:5828, MONDO:0003662] synonym: "endometrium adenocarcinoma of ovary" EXACT [MONDO:design_pattern] synonym: "ovarian endometrioid adenocarcinoma" EXACT [NCIT:C7979] -synonym: "ovarian endometrioid adenocarcinoma NOS" RELATED EXCLUDE [NCIT:C7979] -synonym: "ovarian endometrioid adenocarcinoma not otherwise specified" RELATED EXCLUDE [NCIT:C7979] +synonym: "ovarian endometrioid adenocarcinoma NOS" RELATED EXCLUDE [] +synonym: "ovarian endometrioid adenocarcinoma not otherwise specified" RELATED EXCLUDE [] synonym: "ovarian endometrioid cancer" EXACT [NCIT:C7979] synonym: "ovarian endometrioid carcinoma" EXACT [DOID:5828, NCIT:C7979] synonym: "ovary endometrium adenocarcinoma" EXACT [MONDO:patterns/location] @@ -125396,8 +125404,8 @@ name: ovarian endometriosis def: "A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions." [NCIT:C27628] subset: otar {source="MONDO:OTAR"} synonym: "endometriosis (disease) of ovary" EXACT [] -synonym: "endometriosis of ovary" EXACT [MONDO:0001289] -synonym: "ovarian endometriosis" EXACT [DOID:11432] +synonym: "endometriosis of ovary" EXACT [DOID:11432, ICD10CM:N80.1, MONDO:0001289] +synonym: "ovarian endometriosis" EXACT [DOID:11432, NCIT:C27628] synonym: "ovary endometriosis (disease)" EXACT [MONDO:patterns/location] xref: DOID:11432 {source="MONDO:equivalentTo"} xref: EFO:1000418 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -125448,7 +125456,7 @@ id: MONDO:0006340 name: ovarian serous adenofibroma def: "A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." [NCIT:C40031] subset: otar {source="MONDO:OTAR"} -synonym: "ovarian serous adenofibroma" EXACT [NCIT:C40031] +synonym: "ovarian serous adenofibroma" EXACT [DOID:5474, NCIT:C40031] synonym: "ovary serous adenofibroma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "serous adenofibroma of ovary" EXACT [MONDO:design_pattern] xref: DOID:5474 {source="MONDO:equivalentTo"} @@ -125485,7 +125493,7 @@ synonym: "malignant ovarian transitional cell neoplasm" EXACT [DOID:4000] synonym: "ovarian transitional cell cancer" EXACT [DOID:4000, NCIT:C5240] synonym: "ovarian transitional cell carcinoma" EXACT [NCIT:C5240] synonym: "ovarian transitional cell neoplasm" RELATED [DOID:4000] -synonym: "ovary transitional cell carcinoma" EXACT [MONDO:0002830, MONDO:patterns/location] +synonym: "ovary transitional cell carcinoma" EXACT [DOID:4000, MONDO:0002830, MONDO:patterns/location] synonym: "transitional cell carcinoma of ovary" EXACT [DOID:4000, NCIT:C5240] synonym: "transitional cell carcinoma of the ovary" EXACT [NCIT:C5240] xref: DOID:4000 {source="MONDO:equivalentTo"} @@ -125509,9 +125517,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "endodermal sinus neoplasm of ovary" EXACT [NCIT:C8107] synonym: "endodermal sinus neoplasm of the ovary" EXACT [NCIT:C8107] -synonym: "endodermal sinus tumor of ovary" EXACT [NCIT:C8107] +synonym: "endodermal sinus tumor of ovary" EXACT [DOID:5350, NCIT:C8107] synonym: "endodermal sinus tumor of the ovary" EXACT [NCIT:C8107] -synonym: "endodermal sinus tumour of ovary" EXACT OMO:0003005 [] +synonym: "endodermal sinus tumour of ovary" EXACT OMO:0003005 [DOID:5350] synonym: "endodermal sinus tumour of the ovary" EXACT OMO:0003005 [] synonym: "germ cell endodermal sinus neoplasm of ovary" EXACT [NCIT:C8107] synonym: "germ cell endodermal sinus neoplasm of the ovary" EXACT [NCIT:C8107] @@ -125520,8 +125528,8 @@ synonym: "germ cell endodermal sinus tumor of the ovary" EXACT [NCIT:C8107] synonym: "germ cell endodermal sinus tumour of ovary" EXACT OMO:0003005 [] synonym: "germ cell endodermal sinus tumour of the ovary" EXACT OMO:0003005 [] synonym: "ovarian endodermal sinus neoplasm" EXACT [NCIT:C8107] -synonym: "ovarian endodermal sinus tumor" EXACT [NCIT:C8107] -synonym: "ovarian endodermal sinus tumour" EXACT OMO:0003005 [] +synonym: "ovarian endodermal sinus tumor" EXACT [DOID:5350, NCIT:C8107] +synonym: "ovarian endodermal sinus tumour" EXACT OMO:0003005 [DOID:5350] synonym: "ovarian germ cell endodermal sinus neoplasm" EXACT [NCIT:C8107] synonym: "ovarian germ cell endodermal sinus tumor" EXACT [NCIT:C8107] synonym: "ovarian germ cell endodermal sinus tumour" EXACT OMO:0003005 [] @@ -125560,7 +125568,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Dupuytren contracture" EXACT [MONDO:ambiguous, NCIT:C3469] synonym: "Dupuytren contracture (disease)" EXACT [MONDO:0005360] -synonym: "Dupuytren's contracture" RELATED [NCIT:C3469] +synonym: "Dupuytren's contracture" RELATED [] synonym: "palmar fibromatosis" EXACT [NCIT:C3469] synonym: "palmar part of manus fibromatosis" EXACT [MONDO:patterns/location] xref: EFO:1000438 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -125590,12 +125598,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acinar cell adenocarcinoma of pancreas" EXACT [NCIT:C7977] synonym: "acinar cell adenocarcinoma of the pancreas" EXACT [NCIT:C7977] -synonym: "acinar cell carcinoma of pancreas" EXACT [MONDO:0018522, NCIT:C7977] +synonym: "acinar cell carcinoma of pancreas" EXACT [MONDO:0018522, NCIT:C7977, Orphanet:424046] synonym: "acinar cell carcinoma of the pancreas" EXACT [NCIT:C7977] synonym: "carcinoma of pancreatic acinar cell" EXACT [MONDO:patterns/carcinoma] synonym: "PAAC" RELATED ABBREVIATION [ONCOTREE:PAAC] synonym: "pancreas acinar cell adenocarcinoma" EXACT [NCIT:C7977] -synonym: "pancreatic acinar cell adenocarcinoma" EXACT [MONDO:0003623, NCIT:C7977] +synonym: "pancreatic acinar cell adenocarcinoma" EXACT [DOID:5742, MONDO:0003623, NCIT:C7977] synonym: "Pancreatic acinar cell cancer" EXACT [NCIT:C7977] synonym: "pancreatic acinar cell carcinoma" EXACT [DOID:5742, MONDO:patterns/location, NCIT:C7977, Orphanet:424046] xref: DOID:5742 {source="MONDO:equivalentTo"} @@ -125683,9 +125691,9 @@ def: "A non-invasive or invasive transitional cell carcinoma characterized by a subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "papillary transitional carcinoma" EXACT [MONDO:0002835, NCIT:C4122] +synonym: "papillary transitional carcinoma" EXACT [DOID:4012, MONDO:0002835, NCIT:C4122] synonym: "papillary transitional cell carcinoma" EXACT [DOID:4012, NCIT:C4122] -synonym: "papillary transitional cell carcinoma (morphologic abnormality)" EXACT [DOID:4012] +synonym: "papillary transitional cell carcinoma (morphologic abnormality)" EXACT [] xref: DOID:4012 {source="MONDO:equivalentTo"} xref: EFO:1000450 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8130/3 {source="NCIT:C4122"} @@ -125704,7 +125712,7 @@ id: MONDO:0006351 name: parachordoma def: "A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." [NCIT:C6581] subset: otar {source="MONDO:OTAR"} -synonym: "parachordoma" EXACT [NCIT:C6581] +synonym: "parachordoma" EXACT [DOID:2647, NCIT:C6581] xref: DOID:2647 {source="MONDO:equivalentTo"} xref: EFO:1000452 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:9373/0 {source="NCIT:C6581"} @@ -125744,12 +125752,12 @@ name: paranasal sinus Schneiderian papilloma def: "A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma." [NCIT:C6835] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "accessory sinus Schneiderian papilloma" RELATED [NCIT:C6835] +synonym: "accessory sinus Schneiderian papilloma" RELATED [] synonym: "paranasal sinus Schneiderian papilloma" EXACT [NCIT:C6835] -synonym: "Schneiderian papilloma of accessory sinus" RELATED [NCIT:C6835] -synonym: "Schneiderian papilloma of paranasal sinus" RELATED [NCIT:C6835] -synonym: "Schneiderian papilloma of the accessory sinus" RELATED [NCIT:C6835] -synonym: "Schneiderian papilloma of the paranasal sinus" RELATED [NCIT:C6835] +synonym: "Schneiderian papilloma of accessory sinus" RELATED [] +synonym: "Schneiderian papilloma of paranasal sinus" RELATED [] +synonym: "Schneiderian papilloma of the accessory sinus" RELATED [] +synonym: "Schneiderian papilloma of the paranasal sinus" RELATED [] xref: MEDGEN:235462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6835 {source="MONDO:equivalentTo", source="EFO:1000455"} xref: UMLS:C1335343 {source="MEDGEN:235462", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -125763,7 +125771,7 @@ def: "A hyperplasia that involves the parathyroid gland." [MONDO:patterns/locati subset: otar {source="MONDO:OTAR"} synonym: "hyperplasia of parathyroid" EXACT [NCIT:C3989] synonym: "hyperplasia of the parathyroid" EXACT [NCIT:C3989] -synonym: "parathyroid gland hyperplasia" EXACT [MONDO:patterns/location] +synonym: "parathyroid gland hyperplasia" EXACT [MONDO:patterns/location, NCIT:C3989] synonym: "parathyroid hyperplasia" EXACT [MONDO:ambiguous, NCIT:C3989] synonym: "parathyroid hyperplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:1000457 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -125783,11 +125791,11 @@ id: MONDO:0006355 name: parotid gland acinic cell carcinoma def: "An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area." [NCIT:C5933] subset: otar {source="MONDO:OTAR"} -synonym: "acinic cell carcinoma of parotid" RELATED [NCIT:C5933] -synonym: "acinic cell carcinoma of parotid gland" RELATED [NCIT:C5933] -synonym: "acinic cell carcinoma of the parotid" RELATED [NCIT:C5933] -synonym: "acinic cell carcinoma of the parotid gland" RELATED [NCIT:C5933] -synonym: "parotid acinic cell carcinoma" RELATED [NCIT:C5933] +synonym: "acinic cell carcinoma of parotid" RELATED [] +synonym: "acinic cell carcinoma of parotid gland" RELATED [] +synonym: "acinic cell carcinoma of the parotid" RELATED [] +synonym: "acinic cell carcinoma of the parotid gland" RELATED [] +synonym: "parotid acinic cell carcinoma" RELATED [] synonym: "parotid gland acinar cell carcinoma" EXACT [MONDO:patterns/location] synonym: "parotid gland acinic cell carcinoma" EXACT [NCIT:C5933] xref: EFO:1000458 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -125813,7 +125821,7 @@ synonym: "adenoid cystic carcinoma of parotid gland" EXACT [NCIT:C5937] synonym: "adenoid cystic carcinoma of the parotid" EXACT [NCIT:C5937] synonym: "adenoid cystic carcinoma of the parotid gland" EXACT [NCIT:C5937] synonym: "parotid adenoid cystic carcinoma" EXACT [NCIT:C5937] -synonym: "parotid gland adenoid cystic carcinoma" EXACT [MONDO:patterns/location] +synonym: "parotid gland adenoid cystic carcinoma" EXACT [DOID:0050931, MONDO:patterns/location, NCIT:C5937] xref: DOID:0050931 {source="MONDO:equivalentTo"} xref: EFO:1000459 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:277502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -125857,7 +125865,7 @@ def: "An invasive squamous cell carcinoma that arises from the parotid gland. It subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "parotid gland squamous cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "parotid gland squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C5942] synonym: "parotid squamous cell carcinoma" EXACT [NCIT:C5942] synonym: "squamous cell carcinoma of parotid" EXACT [NCIT:C5942] synonym: "squamous cell carcinoma of parotid gland" EXACT [NCIT:C5942] @@ -125885,9 +125893,9 @@ subset: orphanet_rare {source="Orphanet:595133"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "neoplasm with perivascular epithelioid cell differentiation" EXACT [DOID:2643, NCIT:C38150] -synonym: "PEComa" EXACT [DOID:2643, Orphanet:595133] -synonym: "perivascular epithelioid cell neoplasm" EXACT [https://orcid.org/0000-0001-9310-0163] -synonym: "perivascular epithelioid cell tumor" EXACT [DOID:2643, Orphanet:595133] +synonym: "PEComa" EXACT [DOID:2643, NCIT:C38150, Orphanet:595133] +synonym: "perivascular epithelioid cell neoplasm" EXACT [https://orcid.org/0000-0001-9310-0163, Orphanet:595133] +synonym: "perivascular epithelioid cell tumor" EXACT [DOID:2643] synonym: "perivascular epithelioid cell tumour" EXACT OMO:0003005 [] synonym: "tumor with perivascular epithelioid cell differentiation" EXACT [NCIT:C38150] synonym: "tumour with perivascular epithelioid cell differentiation" EXACT OMO:0003005 [] @@ -125913,16 +125921,16 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of penis" BROAD [NCIT:C9061] -synonym: "cancer of the penis" BROAD [NCIT:C9061] +synonym: "cancer of penis" BROAD [] +synonym: "cancer of the penis" BROAD [] synonym: "cancer penis" BROAD [GARD:0009366] -synonym: "carcinoma of penis" EXACT [MONDO:patterns/carcinoma, NCIT:C9061] +synonym: "carcinoma of penis" EXACT [DOID:3449, MONDO:patterns/carcinoma, NCIT:C9061] synonym: "carcinoma of the penis" EXACT [NCIT:C9061] -synonym: "penile cancer" BROAD [NCIT:C9061] +synonym: "penile cancer" BROAD [] synonym: "penile cancer, adult" NARROW [GARD:0009366] -synonym: "penile cancer, NOS" BROAD EXCLUDE [NCIT:C9061] +synonym: "penile cancer, NOS" BROAD EXCLUDE [] synonym: "penile carcinoma" EXACT [DOID:3449, NCIT:C9061] -synonym: "penis carcinoma" EXACT [MONDO:patterns/location] +synonym: "penis carcinoma" EXACT [DOID:3449, MONDO:patterns/location] xref: DOID:3449 {source="EFO:1000465", source="MONDO:equivalentTo"} xref: EFO:1000465 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:208877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -125949,8 +125957,8 @@ id: MONDO:0006362 name: peritoneal mesothelioma def: "A benign or malignant mesothelial neoplasm that arises from the peritoneum." [NCIT:C7633] subset: otar {source="MONDO:OTAR"} -synonym: "mesothelioma of peritoneum" EXACT [NCIT:C7633] -synonym: "mesothelioma of the peritoneum" EXACT [NCIT:C7633] +synonym: "mesothelioma of peritoneum" EXACT [] +synonym: "mesothelioma of the peritoneum" EXACT [] synonym: "peritoneal mesothelioma" EXACT [MONDO:ambiguous, NCIT:C7633] synonym: "peritoneal mesothelioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "peritoneum mesothelioma" EXACT [MONDO:patterns/location] @@ -125980,7 +125988,7 @@ subset: orphanet_rare {source="Orphanet:168816"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign cystic peritoneal mesothelioma" RELATED [GARD:0010777] -synonym: "benign multicystic peritoneal mesothelioma" NARROW [Orphanet:168816] +synonym: "benign multicystic peritoneal mesothelioma" NARROW [] synonym: "BMPM" RELATED ABBREVIATION [GARD:0010777] synonym: "multicystic mesothelioma" EXACT [Orphanet:168816] synonym: "multicystic mesothelioma of peritoneum" EXACT [NCIT:C6536] @@ -125988,7 +125996,7 @@ synonym: "multicystic mesothelioma of the peritoneum" EXACT [NCIT:C6536] synonym: "multilocular peritoneal cysts" RELATED [GARD:0010777] synonym: "multilocular peritoneal inclusion cyst" EXACT [NCIT:C6536, Orphanet:168816] synonym: "multilocular peritoneal inclusion cysts" RELATED [GARD:0010777] -synonym: "peritoneal cystic mesothelioma" EXACT [MONDO:0015685, Orphanet:168816] +synonym: "peritoneal cystic mesothelioma" EXACT [MONDO:0015685] synonym: "peritoneal multicystic mesothelioma" EXACT [NCIT:C6536] xref: EFO:1000468 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10777 {source="MONDO:GARD"} @@ -126006,7 +126014,7 @@ name: peritoneal well differentiated papillary mesothelioma def: "A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma." [NCIT:C45661] subset: otar {source="MONDO:OTAR"} synonym: "peritoneal WDPM" EXACT [NCIT:C45661] -synonym: "peritoneal well differentiated papillary mesothelioma" EXACT [NCIT:C45661] +synonym: "peritoneal well differentiated papillary mesothelioma" EXACT [] xref: EFO:1000469 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:318015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C45661 {source="MONDO:equivalentTo", source="EFO:1000469", source="MONDO:exact-label-match"} @@ -126067,7 +126075,7 @@ def: "An extremely rare, benign or malignant mesenchymal tumor arising from the subset: otar {source="MONDO:OTAR"} synonym: "phosphaturic mesenchymal tumor" EXACT [NCIT:C67237] synonym: "phosphaturic mesenchymal tumor, mixed connective tissue type" EXACT [NCIT:C67237] -synonym: "phosphaturic mesenchymal tumor, mixed connective tissue variant" RELATED [NCIT:C67237] +synonym: "phosphaturic mesenchymal tumor, mixed connective tissue variant" RELATED [] xref: EFO:1000473 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:371179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C67237 {source="EFO:1000473", source="MONDO:equivalentTo", source="NCIT:C67237"} @@ -126084,8 +126092,8 @@ subset: ordo_disorder {source="Orphanet:251919"} subset: orphanet_rare {source="Orphanet:251919"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pineal parenchymal tumor of intermediate differentiation" EXACT [DOID:5030, NCIT:C6967] -synonym: "pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)" EXACT [DOID:5030] +synonym: "pineal parenchymal tumor of intermediate differentiation" EXACT [DOID:5030, NCIT:C6967, Orphanet:251919] +synonym: "pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)" EXACT [] synonym: "pineal parenchymal tumors of intermediate differentiation" RELATED [GARD:0010644] synonym: "pineal parenchymal tumour of intermediate differentiation (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "pineal parenchymal tumours of intermediate differentiation" RELATED OMO:0003005 [] @@ -126131,7 +126139,7 @@ subset: ordo_disorder {source="Orphanet:251623"} subset: orphanet_rare {source="Orphanet:251623"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pituicytoma" EXACT [NCIT:C94524] +synonym: "pituicytoma" EXACT [DOID:0081280, NCIT:C94524, Orphanet:251623] synonym: "pituicytoma (WHO grade I)" EXACT [NCIT:C94524] synonym: "posterior pituitary astrocytoma" EXACT [NCIT:C94524] synonym: "PTCY" RELATED ABBREVIATION [ONCOTREE:PTCY] @@ -126164,7 +126172,7 @@ synonym: "adenoma of pituitary gland" EXACT [NCIT:C3329] synonym: "adenoma of the pituitary" EXACT [NCIT:C3329] synonym: "adenoma of the pituitary gland" EXACT [DOID:3829, NCIT:C3329] synonym: "adenoma, anterior lobe pituitary gland, benign" EXACT [NCIT:C3329] -synonym: "pituitary adenoma" EXACT [MONDO:0020471, NCIT:C3329] +synonym: "pituitary adenoma" EXACT [DOID:3829, MONDO:0020471, NCIT:C3329, Orphanet:99408] synonym: "pituitary gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3329] synonym: "PTAD" RELATED ABBREVIATION [ONCOTREE:PTAD] xref: DOID:3829 {source="MONDO:equivalentTo", source="EFO:1000478"} @@ -126201,11 +126209,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "choriocarcinoma of placenta" RELATED [NCIT:C8893] +synonym: "choriocarcinoma of placenta" RELATED [] synonym: "choriocarcinoma of the placenta" EXACT [DOID:2024, NCIT:C8893] -synonym: "placenta choriocarcinoma" RELATED [NCIT:C8893] +synonym: "placenta choriocarcinoma" RELATED [] synonym: "placenta choriocarcinoma (disease)" EXACT [MONDO:patterns/location] -synonym: "placental choriocarcinoma" EXACT [NCIT:C8893] +synonym: "placental choriocarcinoma" EXACT [DOID:2024, NCIT:C8893] xref: DOID:2024 {source="MONDO:equivalentTo"} xref: EFO:1000479 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:167782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -126222,16 +126230,16 @@ id: MONDO:0006375 name: placental hemangioma def: "A hemangioma arising from the fetal blood vessels in the placental villi." [NCIT:C4868] subset: otar {source="MONDO:OTAR"} -synonym: "angioma of placenta" RELATED [NCIT:C4868] -synonym: "angioma of the placenta" RELATED [NCIT:C4868] +synonym: "angioma of placenta" RELATED [] +synonym: "angioma of the placenta" RELATED [] synonym: "Chorangioma" EXACT [NCIT:C4868] -synonym: "Chorangioma of the placenta" RELATED [NCIT:C4868] -synonym: "Chorangioma placentae" RELATED [NCIT:C4868] -synonym: "chorioangioma" EXACT [MONDO:0002421] +synonym: "Chorangioma of the placenta" RELATED [] +synonym: "Chorangioma placentae" RELATED [] +synonym: "chorioangioma" EXACT [DOID:277, MONDO:0002421, NCIT:C4868] synonym: "hemangioma of placenta" EXACT [NCIT:C4868] -synonym: "hemangioma of the placenta" RELATED [NCIT:C4868] +synonym: "hemangioma of the placenta" RELATED [] synonym: "placenta hemangioma" EXACT [MONDO:patterns/location] -synonym: "placental angioma" RELATED [NCIT:C4868] +synonym: "placental angioma" RELATED [] synonym: "placental hemangioma" EXACT [DOID:277, NCIT:C4868] xref: DOID:277 {source="MONDO:equivalentTo"} xref: EFO:1000480 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -126366,7 +126374,7 @@ subset: orphanet_rare {source="Orphanet:178544"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "PCDLBCL,LT" EXACT [Orphanet:178544] -synonym: "primary cutaneous diffuse large B-cell lymphoma, Leg type" EXACT [MONDO:0015815] +synonym: "primary cutaneous diffuse large B-cell lymphoma, Leg type" EXACT [icd11.foundation:1418101362, MONDO:0015815, NCIT:C45194, Orphanet:178544] xref: EFO:1000490 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:20160 {source="MONDO:GARD"} xref: ICD10CM:C83.3 {source="Orphanet:178544/ntbt", source="Orphanet:178544"} @@ -126392,7 +126400,7 @@ def: "A squamous cell carcinoma that arises centrally from the jaw. It derives f subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PIOSCC" EXACT ABBREVIATION [NCIT:C54295] +synonym: "PIOSCC" EXACT ABBREVIATION [] xref: EFO:1000492 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:313618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C54295 {source="EFO:1000492", source="MONDO:equivalentTo"} @@ -126423,7 +126431,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "diffuse large B-cell lymphoma of lung" EXACT [] synonym: "high grade MALT lymphoma of the lung" EXACT [NCIT:C45605] -synonym: "lung diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location] +synonym: "lung diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C45605] synonym: "primary pulmonary diffuse large B-cell lymphoma" EXACT [NCIT:C45605] synonym: "pulmonary diffuse large B-cell lymphoma" EXACT [NCIT:C45605] xref: EFO:1000495 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -126491,7 +126499,7 @@ synonym: "malignant prolactinoma of the pituitary" EXACT [NCIT:C5962] synonym: "malignant prolactinoma of the pituitary gland" EXACT [NCIT:C5962] synonym: "PRL producing pituitary gland carcinoma" EXACT [NCIT:C5962] synonym: "prolactin producing pituitary gland carcinoma" EXACT [NCIT:C5962] -synonym: "prolactin-producing pituitary gland carcinoma" EXACT [NCIT:C5962] +synonym: "prolactin-producing pituitary gland carcinoma" EXACT [] xref: EFO:1000497 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:277338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5962 {source="MONDO:equivalentTo", source="EFO:1000497"} @@ -126509,7 +126517,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "prostate gland rhabdomyosarcoma" EXACT [] synonym: "prostate gland rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] -synonym: "prostate rhabdomyosarcoma" EXACT [NCIT:C5522] +synonym: "prostate rhabdomyosarcoma" EXACT [DOID:3252, NCIT:C5522] synonym: "rhabdomyosarcoma (disease) of prostate gland" EXACT [] synonym: "rhabdomyosarcoma of prostate" EXACT [NCIT:C5522] synonym: "rhabdomyosarcoma of the prostate" EXACT [DOID:3252, NCIT:C5522] @@ -126534,13 +126542,13 @@ subset: rare synonym: "Oat cell carcinoma of prostate" EXACT [NCIT:C6766] synonym: "Oat cell carcinoma of the prostate" EXACT [NCIT:C6766] synonym: "prostate gland small cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "prostate Oat cell carcinoma" EXACT [NCIT:C6766] +synonym: "prostate Oat cell carcinoma" EXACT [DOID:7141, NCIT:C6766] synonym: "prostate oat cell carcinoma" EXACT [DOID:7141, NCIT:C6766] -synonym: "prostate small cell carcinoma" EXACT [NCIT:C6766] +synonym: "prostate small cell carcinoma" EXACT [DOID:7141, NCIT:C6766] synonym: "prostate small cell NEC" EXACT [NCIT:C6766] synonym: "prostate small cell neuroendocrine carcinoma" EXACT [NCIT:C6766] synonym: "PRSCC" RELATED ABBREVIATION [ONCOTREE:PRSCC] -synonym: "small cell carcinoma of prostate" EXACT [NCIT:C6766] +synonym: "small cell carcinoma of prostate" EXACT [DOID:7141, NCIT:C6766] synonym: "small cell carcinoma of prostate gland" EXACT [MONDO:design_pattern] synonym: "small cell carcinoma of the prostate" EXACT [NCIT:C6766] xref: DOID:7141 {source="MONDO:equivalentTo"} @@ -126562,7 +126570,7 @@ name: pyloric gland adenoma def: "A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed." [NCIT:C43526] subset: otar {source="MONDO:OTAR"} synonym: "pyloric gastric gland adenoma" EXACT [MONDO:patterns/location] -synonym: "pyloric gland adenoma" EXACT [NCIT:C43526] +synonym: "pyloric gland adenoma" EXACT [] xref: EFO:1000501 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1771507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C43526 {source="MONDO:equivalentTo", source="EFO:1000501"} @@ -126671,8 +126679,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions" EXACT [NCIT:C27891] -synonym: "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions" EXACT [NCIT:C27891] -synonym: "TFE3-Rearranged renal cell carcinoma" EXACT [NCIT:C27891] +synonym: "renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions" EXACT [DOID:0081415, NCIT:C27891] +synonym: "TFE3-Rearranged renal cell carcinoma" EXACT [DOID:0081415, NCIT:C27891] synonym: "translocation-associated renal cell carcinoma" RELATED [ONCOTREE:TRCC] synonym: "tRCC" EXACT [NCIT:C27891] synonym: "Xp11.2 translocation-related renal cell carcinoma" EXACT [NCIT:C27891] @@ -126785,9 +126793,9 @@ name: salivary gland carcinoma ex pleomorphic adenoma def: "A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCIT:C40410] comment: Editor note: DO class placed here as it denotes a salivary gland specific form subset: otar {source="MONDO:OTAR"} -synonym: "carcinoma ex pleomorphic adenoma" RELATED EXCLUDE [DOID:297] -synonym: "carcinoma in pleomorphic adenoma" RELATED EXCLUDE [DOID:297] -synonym: "pleomorphic adenoma carcinoma" RELATED [DOID:297] +synonym: "carcinoma ex pleomorphic adenoma" RELATED EXCLUDE [] +synonym: "carcinoma in pleomorphic adenoma" RELATED EXCLUDE [] +synonym: "pleomorphic adenoma carcinoma" RELATED [] synonym: "saliva-secreting gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location] synonym: "salivary gland carcinoma ex pleomorphic adenoma" EXACT [NCIT:C40410] xref: DOID:297 {source="MONDO:equivalentTo"} @@ -126826,16 +126834,16 @@ def: "An infrequent small cell carcinoma that arises from the salivary glands an subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anaplastic small cell carcinoma of salivary gland" EXACT [NCIT:C35703] -synonym: "anaplastic small cell carcinoma of the salivary gland" EXACT [NCIT:C35703] -synonym: "neuroendocrine carcinoma of salivary gland" EXACT [NCIT:C35703] -synonym: "neuroendocrine carcinoma of the salivary gland" EXACT [NCIT:C35703] +synonym: "anaplastic small cell carcinoma of salivary gland" EXACT [] +synonym: "anaplastic small cell carcinoma of the salivary gland" EXACT [] +synonym: "neuroendocrine carcinoma of salivary gland" EXACT [] +synonym: "neuroendocrine carcinoma of the salivary gland" EXACT [] synonym: "saliva-secreting gland small cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "salivary gland anaplastic small cell carcinoma" EXACT [NCIT:C35703] -synonym: "salivary gland neuroendocrine carcinoma" RELATED [NCIT:C35703] -synonym: "salivary gland small cell carcinoma" EXACT [NCIT:C35703] +synonym: "salivary gland anaplastic small cell carcinoma" EXACT [] +synonym: "salivary gland neuroendocrine carcinoma" RELATED [] +synonym: "salivary gland small cell carcinoma" EXACT [] synonym: "small cell carcinoma of saliva-secreting gland" EXACT [MONDO:design_pattern] -synonym: "small cell salivary gland carcinoma" EXACT [NCIT:C35703] +synonym: "small cell salivary gland carcinoma" EXACT [] xref: EFO:1000519 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:234786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35703 {source="EFO:1000519", source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -126853,8 +126861,8 @@ subset: otar {source="MONDO:OTAR"} synonym: "carcinoma, spindle cell, malignant" EXACT [NCIT:C27004] synonym: "pseudosarcomatous carcinoma" EXACT [NCIT:C27004] synonym: "sarcomatoid carcinoma" EXACT [DOID:4015, NCIT:C27004] -synonym: "spindle cell carcinoma" EXACT [MONDO:0002838, NCIT:C27004] -synonym: "spindle cell carcinoma (morphologic abnormality)" EXACT [DOID:4015] +synonym: "spindle cell carcinoma" EXACT [DOID:4015, MONDO:0002838, NCIT:C27004] +synonym: "spindle cell carcinoma (morphologic abnormality)" EXACT [] xref: DOID:4015 {source="MONDO:equivalentTo"} xref: EFO:1000520 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8032/3 {source="NCIT:C27004"} @@ -126879,10 +126887,10 @@ def: "A diffuse malignant mesothelioma arising from the pleura and less often th subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "malignant fibrous mesothelioma" EXACT [DOID:4488, NCIT:C6747] -synonym: "malignant fibrous mesothelioma (morphologic abnormality)" EXACT [DOID:4488] -synonym: "sarcomatoid mesothelioma" EXACT [NCIT:C45655] -synonym: "sarcomatoid mesothelioma (morphologic abnormality)" EXACT [DOID:4488] +synonym: "malignant fibrous mesothelioma" EXACT [DOID:4488] +synonym: "malignant fibrous mesothelioma (morphologic abnormality)" EXACT [] +synonym: "sarcomatoid mesothelioma" EXACT [DOID:4488, NCIT:C45655] +synonym: "sarcomatoid mesothelioma (morphologic abnormality)" EXACT [] synonym: "spindled mesothelioma" EXACT [DOID:4488] xref: DOID:4488 {source="MONDO:equivalentTo"} xref: EFO:1000521 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -126915,8 +126923,8 @@ id: MONDO:0006409 name: signet ring cell gastric adenocarcinoma def: "A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." [NCIT:C5250] subset: otar {source="MONDO:OTAR"} -synonym: "gastric signet Ring cell adenocarcinoma" EXACT [NCIT:C5250] -synonym: "gastric signet ring cell adenocarcinoma" EXACT [MONDO:0004437] +synonym: "gastric signet Ring cell adenocarcinoma" EXACT [DOID:8025, NCIT:C5250] +synonym: "gastric signet ring cell adenocarcinoma" EXACT [DOID:8025, MONDO:0004437, NCIT:C5250] synonym: "signet Ring cell adenocarcinoma of stomach" EXACT [NCIT:C5250] synonym: "signet Ring cell adenocarcinoma of the stomach" EXACT [DOID:8025, NCIT:C5250] synonym: "signet ring cell carcinoma of the stomach" RELATED [ONCOTREE:SSRCC] @@ -126952,7 +126960,7 @@ def: "A rare, highly aggressive carcinoma that arises from the sinonasal tract. subset: otar {source="MONDO:OTAR"} synonym: "highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses" RELATED [GARD:0009249] synonym: "Sinonasal anaplastic carcinoma" EXACT [NCIT:C54294] -synonym: "sinonasal undifferentiated carcinoma" EXACT [NCIT:C54294] +synonym: "sinonasal undifferentiated carcinoma" EXACT [DOID:0080799, NCIT:C54294] synonym: "SNUC" RELATED ABBREVIATION [GARD:0009249, ONCOTREE:SNUC] synonym: "undifferentiated Sinonasal cancer" EXACT [NCIT:C54294] xref: DOID:0080799 {source="MONDO:equivalentTo"} @@ -126976,15 +126984,15 @@ subset: ordo_disorder {source="Orphanet:158014"} subset: orphanet_rare {source="Orphanet:158014"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Destombes-RosaC/-Dorfman disease" EXACT [Orphanet:158014] +synonym: "Destombes-RosaC/-Dorfman disease" EXACT [] synonym: "Destombes-Rosaï-Dorfman disease" EXACT [Orphanet:158014] -synonym: "RDD" EXACT ABBREVIATION [GARD:0007588] -synonym: "RosaC/-Dorfman-Destombes disease" EXACT [Orphanet:158014] -synonym: "Rosai-Dorfman Disease" EXACT [NORD:1676] -synonym: "Rosai-Dorfman disease" EXACT [MONDO:0044354, NCIT:C36075, Orphanet:158014] +synonym: "RDD" EXACT ABBREVIATION [GARD:0007588, NCIT:C36075] +synonym: "RosaC/-Dorfman-Destombes disease" EXACT [] +synonym: "Rosai-Dorfman Disease" EXACT [icd11.foundation:1908538383, NCIT:C36075, NORD:1676] +synonym: "Rosai-Dorfman disease" EXACT [icd11.foundation:1908538383, MONDO:0044354, NCIT:C36075] synonym: "Rosaï-Dorfman-Destombes disease" EXACT [Orphanet:158014] -synonym: "SHML" EXACT ABBREVIATION [Orphanet:158014] -synonym: "sinus histiocytosis with massive lymphadenopathy" EXACT [Orphanet:158014] +synonym: "SHML" EXACT ABBREVIATION [NCIT:C36075, Orphanet:158014] +synonym: "sinus histiocytosis with massive lymphadenopathy" EXACT [icd11.foundation:1908538383, NCIT:C36075, Orphanet:158014] xref: GARD:7588 {source="MONDO:GARD"} xref: ICD10CM:D76.3 {source="Orphanet:158014"} xref: icd11.foundation:1908538383 {source="MONDO:equivalentTo"} @@ -127014,7 +127022,7 @@ synonym: "cutaneous sarcoma" EXACT [DOID:2687, NCIT:C5585] synonym: "sarcoma of skin" EXACT [NCIT:C5585] synonym: "sarcoma of the skin" EXACT [NCIT:C5585] synonym: "sarcoma of zone of skin" EXACT [MONDO:patterns/sarcoma] -synonym: "skin sarcoma" EXACT [NCIT:C5585] +synonym: "skin sarcoma" EXACT [DOID:2687, NCIT:C5585] synonym: "zone of skin sarcoma" EXACT [MONDO:patterns/location] xref: DOID:2687 {source="MONDO:equivalentTo"} xref: EFO:1000531 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -127181,9 +127189,9 @@ name: soft tissue chondroma def: "A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." [NCIT:C9482] subset: otar {source="MONDO:OTAR"} synonym: "chondroma of soft parts" EXACT [NCIT:C9482] -synonym: "extraskeletal chondroma" EXACT [NCIT:C9482] +synonym: "extraskeletal chondroma" EXACT [DOID:3814, NCIT:C9482] synonym: "extraskeletal osteochondroma" EXACT [NCIT:C9482] -synonym: "soft tissue chondroma" EXACT [NCIT:C9482] +synonym: "soft tissue chondroma" EXACT [DOID:3814, NCIT:C9482] xref: DOID:3814 {source="MONDO:equivalentTo"} xref: EFO:1000540 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:266157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -127203,7 +127211,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "neoplasm of soft tissue" EXACT [NCIT:C3377] synonym: "neoplasm of the soft tissue" EXACT [NCIT:C3377] synonym: "soft tissue neoplasm" EXACT [NCIT:C3377] -synonym: "soft tissue neoplasm, NOS" RELATED EXCLUDE [NCIT:C3377] +synonym: "soft tissue neoplasm, NOS" RELATED EXCLUDE [] synonym: "soft tissue tumor" EXACT [NCIT:C3377] synonym: "soft tissue tumors" EXACT [NCIT:C3377] synonym: "soft tissue tumour" EXACT OMO:0003005 [] @@ -127240,10 +127248,10 @@ synonym: "primitive neuroectodermal tumor of spinal cord" EXACT [NCIT:C5406] synonym: "primitive neuroectodermal tumor of the spinal cord" EXACT [NCIT:C5406] synonym: "primitive neuroectodermal tumour of spinal cord" EXACT OMO:0003005 [] synonym: "primitive neuroectodermal tumour of the spinal cord" EXACT OMO:0003005 [] -synonym: "spinal cord embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5406] -synonym: "spinal cord embryonal tumor, not otherwise specified" RELATED EXCLUDE [MONDO:0004025, NCIT:C5406] +synonym: "spinal cord embryonal tumor, NOS" RELATED EXCLUDE [] +synonym: "spinal cord embryonal tumor, not otherwise specified" RELATED EXCLUDE [MONDO:0004025] synonym: "spinal cord PNET" EXACT [DOID:6872, NCIT:C5406] -synonym: "spinal cord primitive neuroectodermal neoplasm" EXACT [NCIT:C5406] +synonym: "spinal cord primitive neuroectodermal neoplasm" EXACT [DOID:6872, NCIT:C5406] synonym: "spinal cord primitive neuroectodermal tumor" EXACT [NCIT:C5406] xref: DOID:6872 {source="MONDO:equivalentTo"} xref: EFO:1000545 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -127261,10 +127269,10 @@ name: spindle cell melanoma def: "A melanoma characterized by the presence of malignant spindle-shaped melanocytes." [NCIT:C4237] subset: otar {source="MONDO:OTAR"} synonym: "desmoplastic melanoma" RELATED [DOID:3162] -synonym: "malignant spindle cell melanoma" EXACT [MONDO:0002530, NCIT:C4237] +synonym: "malignant spindle cell melanoma" EXACT [DOID:3162, MONDO:0002530, NCIT:C4237] synonym: "spindle cell malignant melanoma" EXACT [DOID:3162, NCIT:C4237] synonym: "spindle cell melanoma" EXACT [DOID:3162, MTH:NOCODE, NCIT:C4237] -synonym: "spindle cell melanoma NOS (morphologic abnormality)" RELATED EXCLUDE [DOID:3162] +synonym: "spindle cell melanoma NOS (morphologic abnormality)" RELATED EXCLUDE [] synonym: "spitzoid malignant melanoma" EXACT [DOID:3162] xref: DOID:3162 {source="MONDO:equivalentTo"} xref: EFO:1000546 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -127345,14 +127353,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "stromal predominant kidney adenosarcoma" EXACT [NCIT:C9148] synonym: "stromal predominant kidney Wilms tumor" EXACT [NCIT:C9148] -synonym: "stromal predominant kidney Wilms' tumor" EXACT [MONDO:0003324] -synonym: "stromal predominant kidney Wilms' tumour" EXACT OMO:0003005 [] +synonym: "stromal predominant kidney Wilms' tumor" EXACT [DOID:5191, MONDO:0003324] +synonym: "stromal predominant kidney Wilms' tumour" EXACT OMO:0003005 [DOID:5191] synonym: "stromal predominant nephroblastoma" EXACT [NCIT:C9148] synonym: "stromal predominant renal adenosarcoma" EXACT [NCIT:C9148] synonym: "stromal predominant renal Wilm's tumor" EXACT [NCIT:C9148] synonym: "stromal predominant renal Wilm's tumour" EXACT OMO:0003005 [] synonym: "stromal predominant renal Wilms tumor" EXACT [DOID:5191, NCIT:C9148] -synonym: "stromal predominant renal Wilms tumour" EXACT OMO:0003005 [] +synonym: "stromal predominant renal Wilms tumour" EXACT OMO:0003005 [DOID:5191] synonym: "stromal predominant renal Wilms' tumor" EXACT [NCIT:C9148] synonym: "stromal predominant renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "stromal predominant Wilms tumor" EXACT [NCIT:C9148] @@ -127518,8 +127526,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "embryonal carcinoma of testis" EXACT [DOID:5680, NCIT:C6341] -synonym: "embryonal carcinoma of the testis" EXACT [DOID:5680, NCIT:C6341] -synonym: "embryonal testis carcinoma" EXACT [MONDO:0003580] +synonym: "embryonal carcinoma of the testis" EXACT [NCIT:C6341] +synonym: "embryonal testis carcinoma" EXACT [DOID:5680, MONDO:0003580] synonym: "testicular embryonal carcinoma" EXACT [DOID:5680, NCIT:C6341] synonym: "testis embryonal carcinoma" EXACT [MONDO:patterns/location] xref: DOID:5680 {source="MONDO:equivalentTo"} @@ -127548,15 +127556,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "non-dysgerminomatous germ cell tumor of testis" EXACT [Orphanet:363494] synonym: "non-dysgerminomatous germ cell tumour of testis" EXACT OMO:0003005 [] -synonym: "non-seminomatous germ cell tumor of testis" EXACT [MONDO:0018195] +synonym: "non-seminomatous germ cell tumor of testis" EXACT [MONDO:0018195, Orphanet:363494] synonym: "non-seminomatous germ cell tumour of testis" EXACT OMO:0003005 [] -synonym: "testicular germ cell tumor non-seminomatous" EXACT [MONDO:0002873, NCIT:C9313] +synonym: "testicular germ cell tumor non-seminomatous" EXACT [DOID:4086, MONDO:0002873, NCIT:C9313] synonym: "testicular germ cell tumour non-seminomatous" EXACT OMO:0003005 [] synonym: "testicular non seminomatous germ cell tumor" EXACT [Orphanet:363494] synonym: "testicular non seminomatous germ cell tumour" EXACT OMO:0003005 [] synonym: "testicular non-dysgerminomatous germ cell tumor" EXACT [Orphanet:363494] synonym: "testicular non-dysgerminomatous germ cell tumour" EXACT OMO:0003005 [] -synonym: "testicular non-seminomatous germ cell tumor" EXACT [NCIT:C9313] +synonym: "testicular non-seminomatous germ cell tumor" EXACT [DOID:4086, NCIT:C9313] xref: DOID:4086 {source="MONDO:equivalentTo"} xref: EFO:1000570 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:17561 {source="MONDO:GARD"} @@ -127616,19 +127624,19 @@ subset: ordo_disorder {source="Orphanet:99868"} subset: orphanet_rare {source="Orphanet:99868"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoma of thymus" EXACT [MONDO:patterns/carcinoma] -synonym: "malignant thymoma" EXACT [DOID:3284, NCIT:C7612, Orphanet:99868] +synonym: "carcinoma of thymus" EXACT [icd11.foundation:1351671383, MONDO:patterns/carcinoma] +synonym: "malignant thymoma" EXACT [DOID:3284, Orphanet:99868] synonym: "THYC" RELATED ABBREVIATION [ONCOTREE:THYC] -synonym: "thymic carcinoma" EXACT [DOID:3284, NCIT:C7569] +synonym: "thymic carcinoma" EXACT [DOID:3284, NCIT:C7569, Orphanet:99868] synonym: "thymic carcinoma (excluding well differentiated thymic carcinoma)" EXACT [NCIT:C7569] synonym: "thymic carcinoma excluding well differentiated thymic carcinoma" EXACT [NCIT:C7569] synonym: "thymoma type C" EXACT DEPRECATED [NCIT:C7569] synonym: "thymoma, malignant" EXACT [DOID:3284] -synonym: "thymoma, malignant (morphologic abnormality)" EXACT [DOID:3284] +synonym: "thymoma, malignant (morphologic abnormality)" EXACT [] synonym: "thymoma, type C" EXACT [DOID:4554] -synonym: "thymoma, type C (morphologic abnormality)" EXACT [DOID:4554] +synonym: "thymoma, type C (morphologic abnormality)" EXACT [] synonym: "thymus carcinoma" EXACT [MONDO:patterns/location] -synonym: "type C thymoma" EXACT DEPRECATED [MONDO:0003048, NCIT:C7569] +synonym: "type C thymoma" EXACT DEPRECATED [DOID:4554, MONDO:0003048] xref: DOID:3284 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:4554 {source="MONDO:equivalentTo"} xref: EFO:1000576 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -127669,8 +127677,8 @@ synonym: "sarcomatoid carcinoma of Thymus" EXACT [NCIT:C6463] synonym: "thymic carcinosarcoma" EXACT [DOID:8138, NCIT:C6463] synonym: "thymic sarcomatoid carcinoma" EXACT [NCIT:C6463] synonym: "thymic spindle cell carcinoma" EXACT [NCIT:C6463] -synonym: "Thymus sarcomatoid carcinoma" EXACT [NCIT:C6463] -synonym: "thymus sarcomatoid carcinoma" EXACT [MONDO:0004476, MONDO:patterns/location] +synonym: "Thymus sarcomatoid carcinoma" EXACT [DOID:8138, NCIT:C6463] +synonym: "thymus sarcomatoid carcinoma" EXACT [DOID:8138, MONDO:0004476, MONDO:patterns/location, NCIT:C6463] xref: DOID:8138 {source="MONDO:equivalentTo"} xref: EFO:1000577 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:234772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -127727,7 +127735,7 @@ synonym: "primary thymic epithelial neoplasm" EXACT [Orphanet:99867] synonym: "primary thymic epithelial tumor" EXACT [Orphanet:99867] synonym: "primary thymic epithelial tumour" EXACT OMO:0003005 [] synonym: "THYM" RELATED ABBREVIATION [ONCOTREE:THYM] -synonym: "thymoma" EXACT [MONDO:ambiguous, NCIT:C3411] +synonym: "thymoma" EXACT [DOID:3275, MONDO:ambiguous, NCIT:C3411, Orphanet:99867] synonym: "thymoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3275 {source="EFO:1000581", source="MONDO:equivalentTo"} xref: EFO:1000581 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -127765,7 +127773,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atypical thymoma" EXACT [NCIT:C7997] -synonym: "epithelial malignant thymoma" EXACT [MONDO:0004399, NCIT:C7997] +synonym: "epithelial malignant thymoma" EXACT [DOID:7926, MONDO:0004399, NCIT:C7997] synonym: "epithelial thymoma" EXACT [NCIT:C7997] synonym: "malignant thymoma type B3" EXACT [NCIT:C7997] synonym: "squamoid thymoma" EXACT [DOID:7926, NCIT:C7997] @@ -127795,7 +127803,7 @@ subset: rare synonym: "lymphocyte-predominant thymoma" EXACT [DOID:6917, NCIT:C6887] synonym: "lymphocyte-rich thymoma" EXACT [NCIT:C6887] synonym: "organoid thymoma" EXACT [NCIT:C6887] -synonym: "predominantly cortical thymoma" EXACT [NCIT:C6887] +synonym: "predominantly cortical thymoma" EXACT [DOID:6917, NCIT:C6887] synonym: "thymoma type B1" EXACT [NCIT:C6887] synonym: "thymoma, organoid" EXACT [DOID:6917] xref: DOID:6917 {source="MONDO:equivalentTo"} @@ -127813,7 +127821,7 @@ id: MONDO:0006460 name: thyroglossal duct cyst def: "A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "thyroglossal tract cyst" EXACT [Orphanet:489] +synonym: "thyroglossal tract cyst" EXACT [] xref: EFO:1000585 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:759.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:11810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -127860,9 +127868,9 @@ def: "A primary, low grade carcinoma of the thyroid gland composed of groups of subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mucoepidermoid thyroid carcinoma" EXACT [MONDO:0003094, NCIT:C38762] +synonym: "mucoepidermoid thyroid carcinoma" EXACT [DOID:4687, MONDO:0003094, NCIT:C38762] synonym: "mucoepidermoid thyroid gland carcinoma" EXACT [NCIT:C38762] -synonym: "thyroid gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location, NCIT:C38762] +synonym: "thyroid gland mucoepidermoid carcinoma" EXACT [DOID:4687, MONDO:patterns/location, NCIT:C38762] xref: DOID:4687 {source="MONDO:equivalentTo"} xref: EFO:1000590 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:270845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -127905,11 +127913,12 @@ def: "A rare, slow growing, primary carcinoma of the thyroid gland characterized subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "settle" EXACT [NCIT:C46105] +synonym: "SETTLE" EXACT ABBREVIATION [DOID:0081461, NCIT:C46105] +synonym: "settle" EXACT [] synonym: "settle tumor" EXACT [DOID:0050923] -synonym: "settle tumour" EXACT OMO:0003005 [] -synonym: "spindle epithelial tumor with thymus-like differentiation tumor" EXACT [MONDO:0000538] -synonym: "spindle epithelial tumour with thymus-like differentiation tumour" EXACT OMO:0003005 [] +synonym: "settle tumour" EXACT OMO:0003005 [DOID:0050923] +synonym: "spindle epithelial tumor with thymus-like differentiation tumor" EXACT [DOID:0050923, MONDO:0000538] +synonym: "spindle epithelial tumour with thymus-like differentiation tumour" EXACT OMO:0003005 [DOID:0050923] xref: DOID:0050923 {source="MONDO:equivalentTo"} xref: DOID:0081461 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:1000593 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -127927,7 +127936,7 @@ def: "A rapidly growing primary carcinoma of the thyroid gland composed of malig subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "squamous cell thyroid gland carcinoma" EXACT [NCIT:C46008] +synonym: "squamous cell thyroid gland carcinoma" EXACT [] synonym: "thyroid gland squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C46008] xref: EFO:1000594 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:328050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -127951,9 +127960,9 @@ subset: rare synonym: "anaplastic carcinoma of the thyroid" EXACT [NCIT:C3878] synonym: "anaplastic carcinoma of the thyroid gland" EXACT [NCIT:C3878] synonym: "anaplastic carcinoma of thyroid" EXACT [NCIT:C3878] -synonym: "anaplastic carcinoma of thyroid gland" EXACT [NCIT:C3878] +synonym: "anaplastic carcinoma of thyroid gland" EXACT [icd11.foundation:320540024, NCIT:C3878] synonym: "anaplastic thyroid cancer" EXACT [NCIT:C3878] -synonym: "anaplastic thyroid carcinoma" EXACT [GARD:0000664, MONDO:ambiguous, NCIT:C3878] +synonym: "anaplastic thyroid carcinoma" EXACT [DOID:0080522, GARD:0000664, MONDO:ambiguous, NCIT:C3878, Orphanet:142] synonym: "anaplastic thyroid gland carcinoma" EXACT [NCIT:C3878] synonym: "Dedifferentiated thyroid gland carcinoma" EXACT [NCIT:C3878] synonym: "metaplastic thyroid gland carcinoma" EXACT [NCIT:C3878] @@ -127970,7 +127979,7 @@ synonym: "undifferentiated (anaplastic) thyroid gland carcinoma" EXACT [NCIT:C38 synonym: "undifferentiated carcinoma of the thyroid" EXACT [NCIT:C3878] synonym: "undifferentiated carcinoma of the thyroid gland" EXACT [NCIT:C3878] synonym: "undifferentiated carcinoma of thyroid" EXACT [NCIT:C3878] -synonym: "undifferentiated carcinoma of thyroid gland" EXACT [NCIT:C3878] +synonym: "undifferentiated carcinoma of thyroid gland" EXACT [icd11.foundation:320540024, NCIT:C3878] synonym: "undifferentiated thyroid carcinoma" EXACT [NCIT:C3878] synonym: "undifferentiated thyroid gland carcinoma" EXACT [NCIT:C3878] synonym: "undifferentiated thyroid tumor" EXACT [NCIT:C3878] @@ -128033,7 +128042,7 @@ synonym: "SCC of tonsil" EXACT [NCIT:C8183] synonym: "squamous cell carcinoma of the tonsil" EXACT [NCIT:C8183] synonym: "squamous cell carcinoma of tonsil" EXACT [NCIT:C8183] synonym: "tonsil SCC" EXACT [NCIT:C8183] -synonym: "tonsil squamous cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "tonsil squamous cell carcinoma" EXACT [DOID:0050920, MONDO:patterns/location, NCIT:C8183] synonym: "tonsillar SCC" EXACT [NCIT:C8183] xref: DOID:0050920 {source="MONDO:equivalentTo"} xref: EFO:1000597 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -128057,8 +128066,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenoid cystic carcinoma of the trachea" EXACT [NCIT:C6051] -synonym: "adenoid cystic carcinoma of trachea" EXACT [DOID:4875, NCIT:C6051] -synonym: "trachea adenoid cystic carcinoma" EXACT [MONDO:0003183, MONDO:patterns/location, NCIT:C6051] +synonym: "adenoid cystic carcinoma of trachea" EXACT [NCIT:C6051] +synonym: "trachea adenoid cystic carcinoma" EXACT [DOID:4875, MONDO:0003183, MONDO:patterns/location, NCIT:C6051] synonym: "tracheal adenoid cystic carcinoma" EXACT [DOID:4875, NCIT:C6051] xref: DOID:4875 {source="MONDO:equivalentTo"} xref: EFO:1000598 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -128095,9 +128104,9 @@ synonym: "carcinoma of transitional epithelial cell" EXACT [MONDO:patterns/carci synonym: "carcinoma of urothelial cell" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, urothelial, malignant" EXACT [NCIT:C2930] synonym: "transitional carcinoma" EXACT [DOID:2671, NCIT:C2930] -synonym: "transitional cell carcinoma" EXACT [NCIT:C2930] -synonym: "transitional cell neoplasm" BROAD [DOID:2671] -synonym: "transitional cell tumor" BROAD [DOID:2671, NCIT:C6783] +synonym: "transitional cell carcinoma" EXACT [DOID:2671, NCIT:C2930] +synonym: "transitional cell neoplasm" BROAD [] +synonym: "transitional cell tumor" BROAD [] synonym: "transitional cell tumour" BROAD OMO:0003005 [] synonym: "transitional epithelial cell carcinoma" EXACT [] synonym: "urothelial cell carcinoma" EXACT [DOID:2671, MONDO:patterns/location] @@ -128122,8 +128131,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7794/transit id: MONDO:0006475 name: obsolete unclassified renal cell carcinoma def: "OBSOLETE. A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology." [NCIT:C27892] -synonym: "unclassified renal cell cancer" EXACT [NCIT:C27892] -synonym: "unclassified renal cell carcinoma" EXACT [NCIT:C27892] +synonym: "unclassified renal cell cancer" EXACT [] +synonym: "unclassified renal cell carcinoma" EXACT [] synonym: "URCC" RELATED ABBREVIATION [ONCOTREE:URCC] xref: NCIT:C27892 {source="MONDO:exact-label-match", source="EFO:1000603", source="MONDO:obsoleteEquivalentObsolete"} xref: ONCOTREE:URCC {source="MONDO:obsoleteEquivalent"} @@ -128218,13 +128227,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "OGCT of pancreas" EXACT [Orphanet:424080] synonym: "osteoclast-like giant cell neoplasm of pancreas" EXACT [DOID:7718, NCIT:C5723] -synonym: "osteoclast-like giant cell neoplasm of the pancreas" EXACT [MONDO:0004342, NCIT:C5723] -synonym: "osteoclastic giant cell tumor of pancreas" EXACT [MONDO:0018527] +synonym: "osteoclast-like giant cell neoplasm of the pancreas" EXACT [DOID:7718, MONDO:0004342, NCIT:C5723] +synonym: "osteoclastic giant cell tumor of pancreas" EXACT [MONDO:0018527, Orphanet:424080] synonym: "osteoclastic giant cell tumour of pancreas" EXACT OMO:0003005 [] synonym: "pancreatic osteoclast-like giant cell carcinoma" EXACT [NCIT:C5723] synonym: "pancreatic osteoclastic giant cell tumor" EXACT [Orphanet:424080] synonym: "pancreatic osteoclastic giant cell tumour" EXACT OMO:0003005 [] -synonym: "pancreatic undifferentiated carcinoma with osteoclast-like giant cells" EXACT [Orphanet:424080] +synonym: "pancreatic undifferentiated carcinoma with osteoclast-like giant cells" EXACT [NCIT:C5723, Orphanet:424080] synonym: "undifferentiated carcinoma of pancreas with osteoclast-like giant cells" EXACT [Orphanet:424080] synonym: "undifferentiated pancreatic carcinoma with osteoclast-like giant cells" EXACT [NCIT:C5723] xref: DOID:7718 {source="MONDO:equivalentTo"} @@ -128252,10 +128261,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "inflammatory malignant fibrous histiocytoma" EXACT [NCIT:C6497] -synonym: "inflammatory MFH" EXACT [MONDO:0003797, NCIT:C6497] +synonym: "inflammatory MFH" EXACT [DOID:6192, MONDO:0003797, NCIT:C6497] synonym: "malignant xanthogranuloma" EXACT [NCIT:C6497] synonym: "undifferentiated pleomorphic sarcoma, inflammatory variant" EXACT [NCIT:C6497] -synonym: "Xanthosarcoma" EXACT [DOID:6192, NCIT:C6497] +synonym: "Xanthosarcoma" EXACT [DOID:6192] xref: DOID:6192 {source="MONDO:equivalentTo"} xref: EFO:1000608 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:235211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -128271,8 +128280,8 @@ def: "A carcinoma that arises from epithelial cells of the ureter." [https://orc subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of the ureter" EXACT [NCIT:C8993] synonym: "carcinoma of ureter" EXACT [MONDO:patterns/carcinoma, NCIT:C8993] -synonym: "ureter cancer" BROAD [NCIT:C8993] -synonym: "ureter carcinoma" EXACT [MONDO:patterns/location, NCIT:C8993] +synonym: "ureter cancer" BROAD [] +synonym: "ureter carcinoma" EXACT [DOID:4939, MONDO:patterns/location, NCIT:C8993] synonym: "ureteral carcinoma" EXACT [DOID:4939, NCIT:C8993] xref: DOID:4939 {source="MONDO:equivalentTo"} xref: EFO:1000609 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -128293,7 +128302,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "small cell carcinoma of the ureter" EXACT [NCIT:C6176] synonym: "small cell carcinoma of ureter" EXACT [NCIT:C6176] -synonym: "ureter small cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C6176] +synonym: "ureter small cell carcinoma" EXACT [DOID:6886, MONDO:patterns/location, NCIT:C6176] synonym: "ureteral small cell carcinoma" EXACT [DOID:6886, NCIT:C6176] xref: DOID:6886 {source="MONDO:equivalentTo"} xref: MEDGEN:234971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -128346,8 +128355,8 @@ synonym: "malignant mixed mesodermal (Mullerian) tumor of the uterus" EXACT [NCI synonym: "malignant mixed mesodermal (Mullerian) tumour of the uterus" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal (Müllerian) tumor of the uterus" EXACT [NCIT:C42700] synonym: "malignant mixed mesodermal (Müllerian) tumour of the uterus" EXACT OMO:0003005 [] -synonym: "mixed mullerian sarcoma of uterus" EXACT [DOID:6171, NCIT:C9180] -synonym: "uterine carcinosarcoma" EXACT [NCIT:C42700] +synonym: "mixed mullerian sarcoma of uterus" EXACT [DOID:6171] +synonym: "uterine carcinosarcoma" EXACT [DOID:6171, NCIT:C42700] synonym: "uterine carcinosarcoma/uterine malignant mixed mullerian tumor" RELATED [ONCOTREE:UCS] synonym: "uterine carcinosarcoma/uterine malignant mixed mullerian tumour" RELATED OMO:0003005 [] synonym: "uterine malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C42700] @@ -128378,16 +128387,16 @@ subset: ordo_disorder {source="Orphanet:39044"} subset: orphanet_rare {source="Orphanet:39044"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "choroidal melanoma" RELATED [Orphanet:39044] +synonym: "choroidal melanoma" RELATED [] synonym: "intraocular melanoma" EXACT [NCIT:C7712] -synonym: "iris melanoma" NARROW [Orphanet:39044] +synonym: "iris melanoma" NARROW [] synonym: "melanoma (disease) of uvea" EXACT [] synonym: "melanoma of the uvea" EXACT [NCIT:C7712] -synonym: "melanoma of uvea" EXACT [DOID:6039, NCIT:C7712] +synonym: "melanoma of uvea" EXACT [DOID:6039, NCIT:C7712, Orphanet:39044] synonym: "melanoma, uveal, malignant" EXACT [NCIT:C7712] synonym: "uvea melanoma" EXACT [] synonym: "uvea melanoma (disease)" EXACT [MONDO:patterns/location] -synonym: "uveal melanoma" EXACT [MONDO:0018313] +synonym: "uveal melanoma" EXACT [DOID:6039, MONDO:0018313, NCIT:C7712, Orphanet:39044] xref: DOID:6039 {source="MONDO:equivalentTo"} xref: EFO:1000616 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:8621 {source="MONDO:GARD"} @@ -128424,16 +128433,16 @@ is_a: MONDO:0015867 {source="NCIT:C40261"} ! vaginal carcinoma id: MONDO:0006488 name: vaginal carcinosarcoma def: "An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component." [NCIT:C40278] -synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" RELATED [DOID:136] +synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" RELATED [] synonym: "malignant vaginal mixed epithelial and mesenchymal tumour" RELATED OMO:0003005 [] -synonym: "vaginal carcinosarcoma" EXACT [NCIT:C40278] -synonym: "vaginal malignant mixed mesodermal (Mullerian) tumor" RELATED [NCIT:C40278] +synonym: "vaginal carcinosarcoma" EXACT [DOID:136, NCIT:C40278] +synonym: "vaginal malignant mixed mesodermal (Mullerian) tumor" RELATED [] synonym: "vaginal malignant mixed mesodermal (Mullerian) tumour" RELATED OMO:0003005 [] synonym: "vaginal malignant mixed mesodermal (Müllerian) tumor" EXACT [NCIT:C40278] synonym: "vaginal malignant mixed mesodermal (Müllerian) tumour" EXACT OMO:0003005 [] -synonym: "vaginal malignant mixed Mullerian tumor" RELATED [DOID:136] +synonym: "vaginal malignant mixed Mullerian tumor" RELATED [] synonym: "vaginal malignant mixed Mullerian tumour" RELATED OMO:0003005 [] -synonym: "vaginal mixed epithelial and mesenchymal tumor" RELATED [DOID:136] +synonym: "vaginal mixed epithelial and mesenchymal tumor" RELATED [] synonym: "vaginal mixed epithelial and mesenchymal tumour" RELATED OMO:0003005 [] xref: DOID:136 {source="MONDO:equivalentTo"} xref: MEDGEN:275573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -128473,23 +128482,23 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carcinoma of vagina squamous cell" EXACT [MONDO:patterns/carcinoma] -synonym: "epidermoid carcinoma of the vagina" EXACT [NCIT:C7736] -synonym: "epidermoid carcinoma of vagina" EXACT [NCIT:C7736] -synonym: "epidermoid cell carcinoma of the vagina" EXACT [NCIT:C7736] -synonym: "epidermoid cell carcinoma of vagina" EXACT [NCIT:C7736] -synonym: "squamous cell carcinoma of the vagina" EXACT [NCIT:C7736] +synonym: "epidermoid carcinoma of the vagina" EXACT [] +synonym: "epidermoid carcinoma of vagina" EXACT [] +synonym: "epidermoid cell carcinoma of the vagina" EXACT [] +synonym: "epidermoid cell carcinoma of vagina" EXACT [] +synonym: "squamous cell carcinoma of the vagina" EXACT [] synonym: "squamous cell carcinoma of the vulva/vagina" RELATED [ONCOTREE:VSC] -synonym: "squamous cell carcinoma of vagina" EXACT [NCIT:C7736] -synonym: "vagina epidermoid carcinoma" EXACT [NCIT:C7736] -synonym: "vagina epidermoid cell carcinoma" EXACT [NCIT:C7736] -synonym: "vagina squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C7736] -synonym: "vaginal epidermoid carcinoma" EXACT [NCIT:C7736] -synonym: "vaginal epidermoid cell carcinoma" EXACT [NCIT:C7736] -synonym: "vaginal squamous cell cancer" EXACT [NCIT:C7736] +synonym: "squamous cell carcinoma of vagina" EXACT [] +synonym: "vagina epidermoid carcinoma" EXACT [] +synonym: "vagina epidermoid cell carcinoma" EXACT [] +synonym: "vagina squamous cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "vaginal epidermoid carcinoma" EXACT [] +synonym: "vaginal epidermoid cell carcinoma" EXACT [] +synonym: "vaginal squamous cell cancer" EXACT [] synonym: "vaginal squamous cell cancer, NOS" EXACT [NCIT:C7736] -synonym: "vaginal squamous cell carcinoma" EXACT [NCIT:C7736] -synonym: "vaginal squamous cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C7736] -synonym: "vaginal squamous cell carcinoma, not otherwise specified" RELATED EXCLUDE [NCIT:C7736] +synonym: "vaginal squamous cell carcinoma" EXACT [NCIT:C180915] +synonym: "vaginal squamous cell carcinoma, NOS" RELATED EXCLUDE [] +synonym: "vaginal squamous cell carcinoma, not otherwise specified" RELATED EXCLUDE [] xref: EFO:1000620 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:66775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C180915 {source="MONDO:equivalentTo"} @@ -128534,7 +128543,7 @@ name: Warthin tumor def: "An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland." [NCIT:C2854] subset: otar {source="MONDO:OTAR"} synonym: "adenolymphoma" EXACT [NCIT:C2854] -synonym: "papillary cystadenoma lymphomatosum" RELATED [NCIT:C2854] +synonym: "papillary cystadenoma lymphomatosum" RELATED [] synonym: "papillary cystadenoma lymphomatosum (formerly)" RELATED DEPRECATED [GARD:0008569] synonym: "Warthin tumor" EXACT [NCIT:C2854] synonym: "Warthin's tumor" EXACT [NCIT:C2854] @@ -128584,7 +128593,7 @@ id: MONDO:0006497 name: cerebral palsy def: "A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "infantile cerebral palsy" EXACT [DOID:1969] +synonym: "infantile cerebral palsy" EXACT [DOID:1969, icd11.foundation:76906748] xref: CSP:0723-4729 {source="DOID:1969"} xref: DOID:1969 {source="MONDO:equivalentTo"} xref: EFO:1000632 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -128652,10 +128661,10 @@ id: MONDO:0006500 name: hemangioma def: "A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels." [NCIT:C3085] subset: otar {source="MONDO:OTAR"} -synonym: "angioma" RELATED [NCIT:C3085] -synonym: "benign angioma" RELATED [NCIT:C3085] +synonym: "angioma" RELATED [] +synonym: "benign angioma" RELATED [] synonym: "benign hemangioma" EXACT [NCIT:C3085] -synonym: "hemangioma" EXACT [NCIT:C3085] +synonym: "hemangioma" EXACT [DOID:255, NCIT:C3085] synonym: "hemangioma, benign" EXACT [NCIT:C3085] xref: DOID:255 {source="MONDO:equivalentTo"} xref: EFO:1000635 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -128704,14 +128713,14 @@ def: "Progressive and life-threatening pulmonary distress in the absence of an u comment: This disease can present as a mild ARDS (PaO2/FiO2 of 201–300 mmHg) moderate ARDS (PaO2/FiO2 of 101–200 mmHg) and severe ARDS (PaO2/FiO2 ≤100 mmHg). [PMID:30872586] subset: otar {source="MONDO:OTAR"} synonym: "acute lung injury" RELATED [GARD:0005698] -synonym: "acute respiratory distress syndrome" EXACT [GARD:0005698] +synonym: "acute respiratory distress syndrome" EXACT [GARD:0005698, ICD10CM:J80, icd11.foundation:1189702844, NCIT:C3353] synonym: "ALI" RELATED ABBREVIATION [GARD:0005698] -synonym: "ARDS" EXACT ABBREVIATION [DOID:11394] +synonym: "ARDS" EXACT ABBREVIATION [NCIT:C3353] synonym: "increased-permeability pulmonary edema" RELATED [GARD:0005698] synonym: "increased-permeability pulmonary oedema" RELATED OMO:0003005 [] -synonym: "non-cardiogenic pulmonary edema" RELATED [DOID:11394, GARD:0005698] +synonym: "non-cardiogenic pulmonary edema" RELATED [GARD:0005698] synonym: "non-cardiogenic pulmonary oedema" RELATED OMO:0003005 [] -synonym: "shock lung" EXACT [DOID:11394, GARD:0005698] +synonym: "shock lung" EXACT [GARD:0005698] synonym: "Stiff lung" RELATED [GARD:0005698] xref: EFO:1000637 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:J80 {source="MONDO:equivalentTo", source="DOID:11394", source="Orphanet:70578", source="Orphanet:70578/e"} @@ -128742,7 +128751,7 @@ id: MONDO:0006504 name: acquired metabolic disease def: "An instance of metabolic disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: otar {source="MONDO:OTAR"} -synonym: "acquired metabolic disease" EXACT [MONDO:patterns/acquired] +synonym: "acquired metabolic disease" EXACT [DOID:0060158, MONDO:patterns/acquired] xref: DOID:0060158 {source="EFO:1000639", source="MONDO:equivalentTo"} xref: EFO:1000639 {source="MONDO:equivalentTo", source="MONDO:EFO"} is_a: MONDO:0005066 {source="DOID:0060158", source="EFO:1000639", source="MONDO:Entailed", source="MONDO:Redundant"} ! metabolic disease @@ -128773,7 +128782,7 @@ def: "Any one of a group of congenital hemolytic anemias in which there is no ab subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary nonspherocytic hemolytic anaemia" EXACT OMO:0003005 [] +synonym: "hereditary nonspherocytic hemolytic anaemia" EXACT OMO:0003005 [DOID:2861] synonym: "hereditary nonspherocytic hemolytic anemia" EXACT [DOID:2861] synonym: "HNSHA" EXACT ABBREVIATION [DOID:2861] xref: DOID:2861 {source="EFO:1000641", source="MONDO:equivalentTo"} @@ -128800,9 +128809,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "diabetes bronze" EXACT [DOID:2352] -synonym: "haemochromatosis" BROAD [DOID:2352] -synonym: "hemochromatosis" BROAD [DOID:2352] -synonym: "hemochromatosis, hereditary" EXACT [OMIM:235200] +synonym: "haemochromatosis" BROAD [] +synonym: "hemochromatosis" BROAD [] +synonym: "hemochromatosis, hereditary" EXACT [] synonym: "iron storage disorder" EXACT [DOID:2352] xref: DOID:2352 {source="MONDO:equivalentTo", source="EFO:1000642"} xref: ICD10CM:E83.11 {source="DOID:2352"} @@ -128838,8 +128847,8 @@ name: papillary carcinoma def: "A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma." [NCIT:C2927] subset: otar {source="MONDO:OTAR"} synonym: "papillary carcinoma" EXACT [DOID:3113, NCIT:C2927] -synonym: "papillary carcinoma (morphologic abnormality)" EXACT [DOID:3113] -synonym: "papillary carcinoma NOS (morphologic abnormality)" EXACT [DOID:3113] +synonym: "papillary carcinoma (morphologic abnormality)" EXACT [] +synonym: "papillary carcinoma NOS (morphologic abnormality)" EXACT [] xref: DOID:3113 {source="MONDO:equivalentTo", source="EFO:1000646"} xref: EFO:1000646 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8050/3 {source="NCIT:C2927"} @@ -128927,8 +128936,8 @@ id: MONDO:0006515 name: acute pancreatitis def: "An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "acute pancreatitis (disorder) [ambiguous]" EXACT [DOID:2913] -synonym: "acute pancreatitis NOS" RELATED EXCLUDE [DOID:2913] +synonym: "acute pancreatitis (disorder) [ambiguous]" EXACT [] +synonym: "acute pancreatitis NOS" RELATED EXCLUDE [] synonym: "pancreatitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:2913 {source="MONDO:equivalentTo"} xref: EFO:1000652 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -128976,7 +128985,7 @@ synonym: "childhood neoplasm, malignant" EXACT [MONDO:patterns/malignant] synonym: "malignant childhood neoplasm" EXACT [NCIT:C4005] synonym: "malignant childhood tumor" EXACT [NCIT:C4005] synonym: "malignant childhood tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm" NARROW [NCIT:C4005] +synonym: "malignant neoplasm" NARROW [] synonym: "malignant paediatric neoplasm" EXACT OMO:0003005 [] synonym: "malignant paediatric tumour" EXACT OMO:0003005 [] synonym: "malignant pediatric neoplasm" EXACT [NCIT:C4005] @@ -129008,9 +129017,9 @@ id: MONDO:0006519 name: rectal cancer def: "A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C7418] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of rectum" EXACT [DOID:1993, MONDO:patterns/cancer] -synonym: "carcinoma of rectum" BROAD [DOID:1993] -synonym: "carcinoma of the rectum" BROAD [DOID:1993, NCIT:C9382] +synonym: "cancer of rectum" EXACT [MONDO:patterns/cancer] +synonym: "carcinoma of rectum" BROAD [] +synonym: "carcinoma of the rectum" BROAD [] synonym: "malignant neoplasm of rectum" EXACT [DOID:1993, ICD9CM:154.1, MONDO:patterns/cancer, NCIT:C7418] synonym: "malignant neoplasm of the rectum" EXACT [NCIT:C7418] synonym: "malignant rectal neoplasm" EXACT [NCIT:C7418] @@ -129019,12 +129028,12 @@ synonym: "malignant rectal tumour" EXACT OMO:0003005 [] synonym: "malignant rectum neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant rectum tumor" EXACT [DOID:1993] synonym: "malignant rectum tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of rectum" EXACT [NCIT:C7418] +synonym: "malignant tumor of rectum" EXACT [DOID:1993, NCIT:C7418] synonym: "malignant tumor of the rectum" EXACT [NCIT:C7418] synonym: "malignant tumour of rectum" EXACT OMO:0003005 [] synonym: "malignant tumour of the rectum" EXACT OMO:0003005 [] synonym: "rectal cancer" EXACT [DOID:1993] -synonym: "rectum cancer" EXACT [MONDO:patterns/location] +synonym: "rectum cancer" EXACT [DOID:1993, MONDO:patterns/location] xref: DOID:1993 {source="MONDO:equivalentTo", source="EFO:1000657"} xref: EFO:1000657 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C20 {source="DOID:1993"} @@ -129051,7 +129060,7 @@ id: MONDO:0006520 name: Achenbach syndrome def: "A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days." [NCIT:C35467] subset: otar {source="MONDO:OTAR"} -synonym: "Achenbach syndrome" EXACT [NCIT:C35467] +synonym: "Achenbach syndrome" EXACT [DOID:6687, NCIT:C35467] synonym: "paroxysmal hematoma of the finger" EXACT [DOID:6687] xref: DOID:6687 {source="EFO:1000661", source="MONDO:equivalentTo"} xref: EFO:1000661 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -129068,7 +129077,7 @@ id: MONDO:0006521 name: acneiform dermatitis def: "Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "Rash acneiform" EXACT [NCIT:C35277] +synonym: "Rash acneiform" EXACT [] xref: DOID:4399 {source="MONDO:equivalentTo", source="EFO:1000662"} xref: EFO:1000662 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:68607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -129080,9 +129089,9 @@ is_a: MONDO:0002406 {source="DOID:4399", source="NCIT:C35277"} ! dermatitis id: MONDO:0006522 name: acquired keratosis def: "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications." [NCIT:P378] -synonym: "acquired hyperkeratosis" RELATED [DOID:13072] +synonym: "acquired hyperkeratosis" RELATED [] synonym: "acquired keratoderma" EXACT [DOID:13072, NCIT:C34746] -synonym: "acquired keratoderma NOS" RELATED EXCLUDE [DOID:13072] +synonym: "acquired keratoderma NOS" RELATED EXCLUDE [] synonym: "acquired keratosis" EXACT [MONDO:patterns/acquired] synonym: "keratoderma - acquired" EXACT [DOID:13072] synonym: "keratoderma, acquired" EXACT [DOID:13072, ICD9CM:701.1] @@ -129141,7 +129150,7 @@ id: MONDO:0006525 name: allergic contact dermatitis def: "An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "allergic contact dermatitis" EXACT [DOID:3042, NCIT:C26998] +synonym: "allergic contact dermatitis" EXACT [DOID:3042, ICD10CM:L23, icd11.foundation:2020673786, NCIT:C26998] synonym: "allergic form of contact dermatitis" EXACT [MONDO:patterns/allergic_form_of_disease] xref: DOID:3042 {source="MONDO:equivalentTo", source="EFO:1000668"} xref: EFO:1000668 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -129187,7 +129196,7 @@ name: anhidrosis def: "Lack of sweating or the ability to sweat when provoked by the appropriate stimulus." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "absence of sweating" EXACT [DOID:11156] -synonym: "adiaphoresis" EXACT [DOID:11156, NCIT:C34385] +synonym: "adiaphoresis" EXACT [DOID:11156] xref: DOID:11156 {source="EFO:1000670", source="MONDO:equivalentTo"} xref: EFO:1000670 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:L74.4 {source="MONDO:equivalentTo", source="DOID:11156"} @@ -129222,7 +129231,7 @@ id: MONDO:0006530 name: cholesteatoma def: "A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "cholesteatoma" EXACT [MONDO:ambiguous] +synonym: "cholesteatoma" EXACT [DOID:869, MONDO:ambiguous, NCIT:C2944] synonym: "cholesteatoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "congenital cholesteatoma (type)" RELATED [GARD:0010422] synonym: "primary acquired cholesteatoma (type)" RELATED [GARD:0010422] @@ -129286,17 +129295,17 @@ id: MONDO:0006533 name: cholesteatoma of middle ear def: "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "cholesteatoma" RELATED EXCLUDE [DOID:10964] +synonym: "cholesteatoma" RELATED EXCLUDE [] synonym: "cholesteatoma (disease) of middle ear" EXACT [] -synonym: "cholesteatoma of middle ear" EXACT [DOID:10964, ICD9CM:385.32] +synonym: "cholesteatoma of middle ear" EXACT [DOID:10964, ICD10CM:H71, icd11.foundation:2134365487, ICD9CM:385.32, NCIT:C3654] synonym: "cholesteatoma of middle ear and mastoid" EXACT [DOID:10964, ICD9CM:385.33] synonym: "cholesteatoma of middle ear and/or mastoid" EXACT [DOID:10964] synonym: "cholesteatoma of the middle ear" EXACT [DOID:10964, NCIT:C3654] -synonym: "Epidermosis of ear" EXACT [DOID:10964] -synonym: "Epidermosis of middle ear" EXACT [DOID:10964] -synonym: "middle ear cholesteatoma" EXACT [DOID:10964] +synonym: "Epidermosis of ear" EXACT [DOID:10964, icd11.foundation:2134365487] +synonym: "Epidermosis of middle ear" EXACT [DOID:10964, icd11.foundation:2134365487] +synonym: "middle ear cholesteatoma" EXACT [DOID:10964, NCIT:C3654] synonym: "middle ear cholesteatoma (disease)" EXACT [MONDO:patterns/location] -synonym: "unspecified cholesteatoma (morphologic abnormality)" EXACT [DOID:10964] +synonym: "unspecified cholesteatoma (morphologic abnormality)" EXACT [] xref: DOID:10964 {source="MONDO:equivalentTo", source="EFO:1000678"} xref: EFO:1000678 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H71 {source="DOID:10964", source="MONDO:equivalentTo"} @@ -129348,9 +129357,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="NORD:998", source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Beradinelli-Seip syndrome" RELATED EXCLUDE [DOID:0050585] +synonym: "Beradinelli-Seip syndrome" RELATED EXCLUDE [] synonym: "congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] -synonym: "congenital generalized lipodystrophy" EXACT [MONDO:ambiguous] +synonym: "congenital generalized lipodystrophy" EXACT [DOID:0050585, MONDO:ambiguous] synonym: "congenital generalized lipodystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "familial generalised lipodystrophy" EXACT OMO:0003005 [] synonym: "familial generalized lipodystrophy" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -129398,7 +129407,7 @@ replaced_by: MONDO:0015614 id: MONDO:0006539 name: diffuse lipomatosis def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy." [NCIT:C6504] -synonym: "diffuse lipomatosis" EXACT [NCIT:C6504] +synonym: "diffuse lipomatosis" EXACT [DOID:3923, NCIT:C6504] xref: DOID:3923 {source="MONDO:equivalentTo", source="EFO:1000687"} xref: MEDGEN:272546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6504 {source="MONDO:equivalentTo", source="DOID:3923", source="MONDO:exact-label-match"} @@ -129413,7 +129422,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "cheiropompholyx" EXACT [DOID:9230] synonym: "dyshidrosis" EXACT [DOID:9230] synonym: "DYSHYDROTIC eczema" EXACT [DOID:9230, MTH:261] -synonym: "pompholyx" RELATED [DOID:9230] +synonym: "pompholyx" RELATED [] synonym: "vesicular eczema of hands and/or feet" EXACT [DOID:9230, MTH:NOCODE] xref: DOID:9230 {source="MONDO:equivalentTo", source="EFO:1000688"} xref: EFO:1000688 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -129446,7 +129455,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acantholysis bullosa" EXACT [DOID:2730] synonym: "EB" RELATED ABBREVIATION [GARD:0006359] -synonym: "epidermolysis bullosa" EXACT [DOID:2730] +synonym: "epidermolysis bullosa" EXACT [DOID:2730, ICD10CM:Q81, NCIT:C67383] xref: DOID:2730 {source="EFO:1000690", source="MONDO:equivalentTo"} xref: EFO:1000690 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6359 {source="MONDO:GARD"} @@ -129485,8 +129494,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DEB" EXACT ABBREVIATION [Orphanet:303] synonym: "dermolytic epidermolysis bullosa" EXACT [Orphanet:303] -synonym: "dystrophic epidermolysis bullosa" RELATED EXCLUDE [DOID:4959] -synonym: "epidermolysis bullosa dystrophica" EXACT [Orphanet:303] +synonym: "dystrophic epidermolysis bullosa" RELATED EXCLUDE [] +synonym: "epidermolysis bullosa dystrophica" EXACT [DOID:4959, icd11.foundation:1060981106, NCIT:C84691, Orphanet:303] synonym: "epidermolysis bullosa, dermolytic" RELATED [GARD:0002150] xref: DOID:4959 {source="EFO:1000692", source="MONDO:equivalentTo"} xref: EFO:1000692 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -129511,7 +129520,7 @@ id: MONDO:0006544 name: erythema infectiosum def: "A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "fifth disease" EXACT [DOID:8743] +synonym: "fifth disease" EXACT [DOID:8743, icd11.foundation:352375140, NCIT:C84695] xref: DOID:8743 {source="EFO:1000693", source="MONDO:equivalentTo"} xref: EFO:1000693 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B08.3 {source="DOID:8743"} @@ -129579,10 +129588,10 @@ name: exanthem def: "Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "cutaneous eruption" EXACT [NCIT:C39594] -synonym: "exanthem" EXACT [MONDO:ambiguous] +synonym: "exanthem" EXACT [DOID:0050486, MONDO:ambiguous] synonym: "exanthem (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "exanthema" EXACT [DOID:0050486] -synonym: "Rash" EXACT [DOID:0050486] +synonym: "exanthema" EXACT [] +synonym: "Rash" EXACT [NCIT:C39594] synonym: "skin eruption" EXACT [NCIT:C39594] synonym: "skin Rash" EXACT [NCIT:C39594] xref: DOID:0050486 {source="MONDO:equivalentTo", source="EFO:1000697"} @@ -129630,7 +129639,7 @@ synonym: "anal fibroepithelial polyp" EXACT [NCIT:C4435] synonym: "anal fibrous polyp" EXACT [NCIT:C4435] synonym: "anal tag" EXACT [NCIT:C4435] synonym: "anus skin tag" EXACT [MONDO:patterns/location] -synonym: "fibroepithelial polyp of anus" EXACT [DOID:8170, NCIT:C5604] +synonym: "fibroepithelial polyp of anus" EXACT [DOID:8170, NCIT:C4435] synonym: "fibrous polyp of anus" EXACT [NCIT:C4435] synonym: "fibrous polyp of the anus" EXACT [NCIT:C4435] synonym: "skin tag of anus" RELATED [] @@ -129653,7 +129662,7 @@ id: MONDO:0006550 name: fibroepithelial polyp of urethra def: "A benign polypoid lesion of mesodermal origin that arises from the urethra." [NCIT:P378] synonym: "fibroepithelial polyp of the urethra" EXACT [NCIT:C6170] -synonym: "fibroepithelial polyp of urethra" EXACT [MONDO:design_pattern] +synonym: "fibroepithelial polyp of urethra" EXACT [DOID:8108, MONDO:design_pattern, NCIT:C6170] synonym: "skin tag of urethra" RELATED [] synonym: "urethra fibroepithelial polyp" EXACT [NCIT:C6170] synonym: "urethra skin tag" EXACT [MONDO:patterns/location] @@ -129676,8 +129685,8 @@ def: "A rare dermatologic disorder characterized by the accumulation of mucinous subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alopecia Mucinosa" EXACT [NCIT:C82859] -synonym: "alopecia mucinosa" EXACT [DOID:9905] +synonym: "alopecia Mucinosa" EXACT [DOID:9905, ICD10CM:L65.2, NCIT:C82859] +synonym: "alopecia mucinosa" EXACT [DOID:9905, ICD10CM:L65.2, NCIT:C82859] synonym: "alopecia mucinosis" EXACT [NCIT:C82859] synonym: "cutaneous focal mucinosis of hair follicle" EXACT [MONDO:design_pattern] synonym: "follicular mucinosis" EXACT [DOID:9905] @@ -129729,7 +129738,7 @@ name: Fox-Fordyce disease def: "A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown, but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants." [https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease] synonym: "apocrine miliaria" RELATED [GARD:0006462] synonym: "Fox Fordyce disease" EXACT [DOID:1381] -synonym: "Fox-Fordyce disease" EXACT [DOID:1381] +synonym: "Fox-Fordyce disease" EXACT [DOID:1381, ICD10CM:L75.2, NCIT:C84716] synonym: "Fox-Fordyce syndrome" RELATED [GARD:0006462] synonym: "miliaria, apocrine" RELATED [GARD:0006462] xref: DOID:1381 {source="MONDO:equivalentTo", source="EFO:1000703"} @@ -129750,7 +129759,7 @@ id: MONDO:0006554 name: granuloma annulare def: "Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown." [https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare] subset: otar {source="MONDO:OTAR"} -synonym: "granuloma annulare" EXACT [DOID:3777] +synonym: "granuloma annulare" EXACT [DOID:3777, ICD10CM:L92.0, icd11.foundation:1925637202, NCIT:C3470] synonym: "Granulome annulare" EXACT [DOID:3777] xref: DOID:3777 {source="MONDO:equivalentTo", source="EFO:1000704"} xref: EFO:1000704 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -129803,12 +129812,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "angioma of subcutaneous tissue" EXACT [NCIT:C8540] synonym: "angioma of the subcutaneous tissue" EXACT [DOID:13081, NCIT:C8540] -synonym: "hemangioma of subcutaneous tissue" EXACT [NCIT:C8540] +synonym: "hemangioma of subcutaneous tissue" EXACT [DOID:13081, NCIT:C8540] synonym: "hemangioma of superficial fascia" EXACT [MONDO:design_pattern] synonym: "hemangioma of the subcutaneous tissue" EXACT [NCIT:C8540] synonym: "subcutaneous angioma" EXACT [NCIT:C8540] synonym: "subcutaneous haemangioma" EXACT [DOID:13081] -synonym: "subcutaneous hemangioma" EXACT [NCIT:C8540] +synonym: "subcutaneous hemangioma" EXACT [DOID:13081, NCIT:C8540] synonym: "subcutaneous tissue angioma" EXACT [NCIT:C8540] synonym: "subcutaneous tissue hemangioma" EXACT [NCIT:C8540] synonym: "superficial fascia hemangioma" EXACT [MONDO:patterns/location] @@ -129835,13 +129844,13 @@ subset: orphanet_rare {source="Orphanet:63275"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "gestational herpes" EXACT DEPRECATED [DOID:14482] -synonym: "gestational pemphigoid" EXACT [Orphanet:63275] -synonym: "Herpes gestationis" EXACT DEPRECATED [DOID:14482] -synonym: "Herpes gestationis (disorder)" EXACT DEPRECATED [DOID:14482] -synonym: "Herpes gestationis NOS (disorder)" EXACT DEPRECATED [DOID:14482] -synonym: "Herpes gestationis unspecified (disorder)" EXACT DEPRECATED [DOID:14482] -synonym: "pemphigoid gestationis" EXACT [MONDO:0018970] -synonym: "pemphigus gestationis" RELATED [DOID:0040098] +synonym: "gestational pemphigoid" EXACT [icd11.foundation:1405755890, NCIT:C85003, Orphanet:63275] +synonym: "Herpes gestationis" EXACT DEPRECATED [DOID:14482, icd11.foundation:1405755890, NCIT:C85003] +synonym: "Herpes gestationis (disorder)" EXACT DEPRECATED [] +synonym: "Herpes gestationis NOS (disorder)" EXACT DEPRECATED [] +synonym: "Herpes gestationis unspecified (disorder)" EXACT DEPRECATED [] +synonym: "pemphigoid gestationis" EXACT [DOID:14482, icd11.foundation:1405755890, MONDO:0018970, NCIT:C85003, Orphanet:63275] +synonym: "pemphigus gestationis" RELATED [] xref: DOID:0040098 {source="MONDO:equivalentTo"} xref: DOID:14482 {source="EFO:1000709", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:1000709 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -129874,13 +129883,13 @@ id: MONDO:0006559 name: hidradenitis suppurativa def: "A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident." [MESH:D017497] subset: otar {source="MONDO:OTAR"} -synonym: "acne inversa" EXACT [https://orcid.org/0000-0002-6601-2165, Orphanet:387] -synonym: "acne inversa, familial" NARROW [DOID:2280] -synonym: "ectopic acne" EXACT [Orphanet:387] -synonym: "fox den disease" EXACT [Orphanet:387] -synonym: "hidradenitis suppurativa" EXACT [DOID:2280] -synonym: "pyoderma fistulans significa" EXACT [Orphanet:387] -synonym: "verneuil disease" EXACT [Orphanet:387] +synonym: "acne inversa" EXACT [https://orcid.org/0000-0002-6601-2165, icd11.foundation:1621794154] +synonym: "acne inversa, familial" NARROW [] +synonym: "ectopic acne" EXACT [] +synonym: "fox den disease" EXACT [] +synonym: "hidradenitis suppurativa" EXACT [DOID:2280, ICD10CM:L73.2, icd11.foundation:1621794154] +synonym: "pyoderma fistulans significa" EXACT [] +synonym: "verneuil disease" EXACT [] xref: DOID:2280 {source="MONDO:equivalentTo", source="EFO:1000710"} xref: EFO:1000710 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:L73.2 {source="MONDO:equivalentTo", source="DOID:2280"} @@ -129900,7 +129909,7 @@ is_a: MONDO:0002260 {source="DOID:2280", source="MESH:D017497"} ! hidradenitis id: MONDO:0006560 name: obsolete hypohidrosis def: "OBSOLETE. Reduced sweating. Causes include burns, dehydration, radiation, and leprosy." [NCIT:P378] -synonym: "Oligohidrosis" EXACT [DOID:11155] +synonym: "Oligohidrosis" EXACT [] xref: DOID:11155 {source="MONDO:obsoleteEquivalent", source="EFO:1000712"} xref: HP:0000966 xref: ICD10CM:L74.4 {source="DOID:11155", source="MONDO:directSiblingOf"} @@ -129918,7 +129927,7 @@ consider: HP:0000966 id: MONDO:0006561 name: eyelid hypopigmentation def: "Under-production of pigment in the eyelid." [EFO:1000713] -synonym: "hypopigmentation of eyelid" EXACT [] +synonym: "hypopigmentation of eyelid" EXACT [DOID:11668] xref: DOID:11668 {source="MONDO:equivalentTo", source="EFO:1000713"} xref: ICD10CM:H02.73 {source="DOID:11668"} xref: ICD9:374.53 {source="DOID:11668", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -129951,7 +129960,7 @@ name: inverted follicular keratosis def: "Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "inverted folicular keratosis" EXACT [DOID:6945] -synonym: "inverted follicular keratosis" EXACT [DOID:6945, NCIT:C9007] +synonym: "inverted follicular keratosis" EXACT [DOID:6945, icd11.foundation:2109084329, NCIT:C9007] xref: DOID:6945 {source="EFO:1000717", source="MONDO:equivalentTo"} xref: EFO:1000717 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:2109084329 {source="MONDO:equivalentTo"} @@ -130025,8 +130034,8 @@ name: kernicterus due to isoimmunization def: "Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "kernicterus - due to isoimm." EXACT [DOID:12043] -synonym: "kernicterus due to isoimmunization of fetus or newborn" EXACT [DOID:12043, ICD9CM:773.4] +synonym: "kernicterus - due to isoimm." EXACT [] +synonym: "kernicterus due to isoimmunization of fetus or newborn" EXACT [ICD9CM:773.4] synonym: "kernicterus due to isoimmunization of foetus or newborn" EXACT OMO:0003005 [] synonym: "kernicterus related to isoimmunization" EXACT [NCIT:C101270] xref: DOID:12043 {source="MONDO:equivalentTo", source="EFO:1000721"} @@ -130103,7 +130112,7 @@ id: MONDO:0006572 name: lichen planus def: "A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "lichen ruber planus" EXACT [DOID:9201] +synonym: "lichen ruber planus" EXACT [DOID:9201, icd11.foundation:1402978031] synonym: "lichen, ruber planus" EXACT [DOID:9201] synonym: "ruber planus" RELATED [] xref: DOID:9201 {source="MONDO:equivalentTo", source="EFO:1000726"} @@ -130127,9 +130136,9 @@ id: MONDO:0006573 name: lipodystrophy def: "A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "lipodsystrophic syndrome" EXACT [NCIT:C97093] +synonym: "lipodsystrophic syndrome" EXACT [] synonym: "lipodsystrophic syndromes" EXACT [NCIT:C97093] -synonym: "lipodystrophy" EXACT [MONDO:ambiguous] +synonym: "lipodystrophy" EXACT [DOID:811, MONDO:ambiguous, NCIT:C97093] synonym: "lipodystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:811 {source="EFO:1000727", source="MONDO:equivalentTo"} xref: EFO:1000727 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -130159,7 +130168,7 @@ name: lipomatosis def: "A neoplastic process characterized by diffuse overgrowth of mature adipose tissue." [NCIT:C3193] subset: otar {source="MONDO:OTAR"} synonym: "Launois-Bensaude syndrome" EXACT [NCIT:C3193] -synonym: "lipomatosis" EXACT [NCIT:C3193] +synonym: "lipomatosis" EXACT [DOID:3153, NCIT:C3193] synonym: "Madelung disease" EXACT [NCIT:C3193] synonym: "Madelung's disease" EXACT [NCIT:C3193] xref: DOID:3153 {source="EFO:1000728", source="MONDO:equivalentTo"} @@ -130223,7 +130232,7 @@ id: MONDO:0006578 name: mediastinal lipomatosis def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum." [NCIT:C27488] subset: otar {source="MONDO:OTAR"} -synonym: "mediastinal lipomatosis" EXACT [NCIT:C27488] +synonym: "mediastinal lipomatosis" EXACT [DOID:3926, NCIT:C27488] xref: DOID:3926 {source="MONDO:equivalentTo", source="EFO:1000732"} xref: EFO:1000732 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:233682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -130250,7 +130259,7 @@ is_a: MONDO:0008420 {source="DOID:11684", source="EFO:1000733", source="NCIT:C27 id: MONDO:0006580 name: miliaria def: "A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands." [NCIT:P378] -synonym: "heat rash" EXACT [NCIT:C34820] +synonym: "heat rash" EXACT [DOID:1382, NCIT:C34820] synonym: "prickly heat" EXACT [NCIT:C34820] xref: DOID:1382 {source="MONDO:equivalentTo", source="EFO:1000734"} xref: ICD10CM:L74.3 {source="DOID:1382"} @@ -130271,9 +130280,9 @@ id: MONDO:0006581 name: miliaria rubra def: "Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps)." [EFO:1000735] subset: otar {source="MONDO:OTAR"} -synonym: "miliaria crystallina" RELATED [DOID:11153] -synonym: "prickly heat - miliaria" EXACT [DOID:11153] -synonym: "sudamina" EXACT [DOID:11153] +synonym: "miliaria crystallina" RELATED [] +synonym: "prickly heat - miliaria" EXACT [] +synonym: "sudamina" EXACT [] xref: DOID:11153 {source="MONDO:equivalentTo", source="EFO:1000735"} xref: EFO:1000735 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:L74.0 {source="DOID:11153"} @@ -130297,7 +130306,7 @@ id: MONDO:0006582 name: mongolian spot def: "A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot." [Wikipedia:Mongolian_spot] synonym: "blue sacral spot" EXACT [NCIT:C3945] -synonym: "congenital dermal melanocytosis" EXACT [Wikipedia:Mongolian_spot] +synonym: "congenital dermal melanocytosis" EXACT [NCIT:C3945, Wikipedia:Mongolian_spot] synonym: "Mongolian macula" EXACT [DOID:4702, NCIT:C3945] xref: DOID:4702 {source="MONDO:equivalentTo", source="EFO:1000736"} xref: MEDGEN:75591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -130321,7 +130330,7 @@ subset: ordo_disorder {source="Orphanet:542592"} subset: orphanet_rare {source="Orphanet:542592"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "necrobiosis lipoidica" EXACT [DOID:3486] +synonym: "necrobiosis lipoidica" EXACT [DOID:3486, icd11.foundation:655608138, NCIT:C34840, Orphanet:542592] synonym: "necrobiosis lipoidica diabeticorum (formerly)" RELATED DEPRECATED [GARD:0013040] xref: DOID:3486 {source="EFO:1000738", source="MONDO:equivalentTo"} xref: EFO:1000738 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -130347,8 +130356,8 @@ id: MONDO:0006584 name: obsolete neonatal jaundice def: "OBSOLETE. Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma." [NCIT:P378] comment: Reason: is a phenotype and not a disease. Term to consider: neonatal jaundice due to ABO incompatibility -synonym: "neonatal hyperbilirubinemia" EXACT [DOID:2383] -synonym: "neonatal icterus" EXACT [DOID:2383] +synonym: "neonatal hyperbilirubinemia" EXACT [] +synonym: "neonatal icterus" EXACT [] xref: DOID:2383 {source="EFO:1000739", source="MONDO:obsoleteEquivalent"} xref: ICD10CM:P59.9 {source="DOID:2383"} xref: ICD9:774.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -130389,7 +130398,7 @@ name: neurotic excoriation def: "A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin." [EFO:1000741] synonym: "dermatitis artefacta" EXACT [DOID:9165] synonym: "dermatitis factitia" EXACT [DOID:9165] -synonym: "dermatitis factitia [artefacta]" EXACT [DOID:9165, ICD9CM:698.4] +synonym: "dermatitis factitia [artefacta]" EXACT [ICD9CM:698.4] synonym: "dermatitis ficta" EXACT [DOID:9165] synonym: "factitious skin disease" EXACT [DOID:9165] xref: DOID:9165 {source="MONDO:equivalentTo", source="EFO:1000741"} @@ -130426,7 +130435,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "occupational allergic contact dermatitis" EXACT [DOID:4404] synonym: "occupational dermatitis" EXACT [DOID:4404, NCIT:C34859] synonym: "occupational eczema" EXACT [DOID:4404] -synonym: "occupational eczema (disorder) [ambiguous]" EXACT [DOID:4404] +synonym: "occupational eczema (disorder) [ambiguous]" EXACT [] xref: DOID:4404 {source="MONDO:equivalentTo", source="EFO:1000744"} xref: EFO:1000744 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:692.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -130535,8 +130544,8 @@ name: pelvic lipomatosis def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males." [NCIT:C27486] subset: otar {source="MONDO:OTAR"} synonym: "Excess of mature unencapsulated fatty tissue in the pelvis" RELATED [GARD:0007350] -synonym: "pelvic lipomatosis" EXACT [NCIT:C27486] -synonym: "pelvic lipomatosis (morphologic abnormality)" EXACT [DOID:3927] +synonym: "pelvic lipomatosis" EXACT [DOID:3927, NCIT:C27486] +synonym: "pelvic lipomatosis (morphologic abnormality)" EXACT [] xref: DOID:3927 {source="MONDO:equivalentTo", source="EFO:1000748"} xref: EFO:1000748 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:96064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -130621,7 +130630,7 @@ subset: rare synonym: "disorder, photosensitivity" EXACT [MESH:D010787] synonym: "disorders, photosensitivity" EXACT [MESH:D010787] synonym: "photodermatitides" EXACT [MESH:D010787] -synonym: "photodermatitis" EXACT [MESH:D010787] +synonym: "photodermatitis" EXACT [DOID:3159, MESH:D010787] synonym: "photodermatosis" EXACT [] synonym: "photosensitivity disorder" EXACT [MESH:D010787] synonym: "photosensitization" EXACT [MESH:D010787] @@ -130689,8 +130698,8 @@ id: MONDO:0006601 name: pityriasis rosea def: "A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "Pityriasis circinata" EXACT [DOID:8892] -synonym: "Pityriasis rosea" EXACT [DOID:8892, NCIT:C26855] +synonym: "Pityriasis circinata" EXACT [DOID:8892, icd11.foundation:919892859] +synonym: "Pityriasis rosea" EXACT [DOID:8892, ICD10CM:L42, icd11.foundation:919892859, NCIT:C26855] xref: DOID:8892 {source="MONDO:equivalentTo", source="EFO:1000756"} xref: EFO:1000756 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:L42 {source="MONDO:equivalentTo", source="DOID:8892"} @@ -130717,8 +130726,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:79358"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "disseminated superficial actinic porokeratosis" RELATED EXCLUDE [DOID:3805] -synonym: "porokeratosis" EXACT [MONDO:ambiguous] +synonym: "disseminated superficial actinic porokeratosis" RELATED EXCLUDE [] +synonym: "porokeratosis" EXACT [DOID:3805, MONDO:ambiguous, NCIT:C85019, OMIMPS:175800, Orphanet:79358] synonym: "porokeratosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:3805 {source="MONDO:equivalentTo", source="EFO:1000757"} xref: EFO:1000757 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -130764,7 +130773,7 @@ id: MONDO:0006604 name: rosacea def: "A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "acne rosacea" EXACT [NCIT:C97136] +synonym: "acne rosacea" EXACT [icd11.foundation:134161404, NCIT:C97136] synonym: "acne roscea" EXACT [DOID:8881] synonym: "acne, erythematosa" EXACT [DOID:8881] xref: DOID:8881 {source="EFO:1000760", source="MONDO:equivalentTo"} @@ -130815,8 +130824,8 @@ synonym: "Buschke's scleredema" EXACT [DOID:3140, MESH:D012592] synonym: "Buschkes scleredema" EXACT [MESH:D012592] synonym: "Diabeticorum, scleredema" EXACT [MESH:D012592] synonym: "Diabeticorums, scleredema" EXACT [MESH:D012592] -synonym: "scleredema" EXACT [MESH:D012592] -synonym: "scleredema adultorum" EXACT [NCIT:C85057] +synonym: "scleredema" EXACT [MESH:D012592, Orphanet:352763] +synonym: "scleredema adultorum" EXACT [DOID:3140, NCIT:C85057] synonym: "scleredema adultorum of Buschke" EXACT [MESH:D012592] synonym: "scleredema Diabeticorum" EXACT [MESH:D012592] synonym: "scleredema Diabeticorum of Buschke" EXACT [MESH:D012592] @@ -130847,7 +130856,7 @@ synonym: "disease of sebaceous gland" EXACT [MONDO:patterns/location_top] synonym: "disease of sebaceous glands" RELATED [] synonym: "disease or disorder of sebaceous gland" EXACT [] synonym: "disorder of sebaceous gland" EXACT [MONDO:patterns/location_top] -synonym: "sebaceous gland disease" EXACT [MONDO:patterns/location] +synonym: "sebaceous gland disease" EXACT [DOID:9098, MONDO:patterns/location] synonym: "sebaceous gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:9098 {source="MONDO:equivalentTo", source="EFO:1000763"} xref: EFO:1000763 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -130871,7 +130880,7 @@ def: "A chronic, inflammatory skin disorder that affects the scalp, central face subset: otar {source="MONDO:OTAR"} synonym: "cradle Cap" EXACT [NCIT:C111888] synonym: "seborrhea" EXACT [DOID:8741, NCIT:C111888] -synonym: "seborrheic dermatitis" EXACT [MONDO:ambiguous, NCIT:C111888] +synonym: "seborrheic dermatitis" EXACT [DOID:8741, MONDO:ambiguous, NCIT:C111888] synonym: "seborrheic dermatitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "seborrheic eczema" EXACT [NCIT:C111888] synonym: "Seborrhoeic dermatitis" EXACT [DOID:8741] @@ -130908,7 +130917,7 @@ synonym: "generalised seborrheic dermatitis of infants" EXACT OMO:0003005 [] synonym: "generalized seborrheic dermatitis of infants" EXACT [DOID:8941] synonym: "infantile seborrheic dermatitis" EXACT [DOID:8941] synonym: "infantile seborrhoeic dermatitis" EXACT [DOID:8941] -synonym: "pityriasis capitis" RELATED [DOID:8941] +synonym: "pityriasis capitis" RELATED [] synonym: "scalp seborrheic dermatitis (disease)" EXACT [MONDO:patterns/location] synonym: "seborrhea capitis" EXACT [DOID:8941] synonym: "seborrhea sicca" EXACT [DOID:8941] @@ -130990,7 +130999,7 @@ intersection_of: disease_has_location UBERON:0000014 ! zone of skin id: MONDO:0006612 name: steroid lipomatosis def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone." [NCIT:C27487] -synonym: "steroid lipomatosis" EXACT [NCIT:C27487] +synonym: "steroid lipomatosis" EXACT [DOID:3925, NCIT:C27487] xref: DOID:3925 {source="MONDO:equivalentTo", source="EFO:1000769"} xref: MEDGEN:234364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27487 {source="MONDO:equivalentTo", source="MONDO:exact-label-match", source="DOID:3925"} @@ -131021,10 +131030,10 @@ subset: orphanet_rare {source="Orphanet:48377"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "pustulosis subcornealis" EXACT [Orphanet:48377] -synonym: "Sneddon-Wilkinson disease" EXACT [Orphanet:48377] +synonym: "Sneddon-Wilkinson disease" EXACT [icd11.foundation:1952122675, Orphanet:48377] synonym: "Sneddon-Wilkinson disease or syndrome" EXACT [DOID:8508] synonym: "subcorneal pustular dermatitis" EXACT [Orphanet:48377] -synonym: "subcorneal pustular dermatosis" EXACT [DOID:8508, ICD9CM:694.1] +synonym: "subcorneal pustular dermatosis" EXACT [DOID:8508, icd11.foundation:1952122675, ICD9CM:694.1, Orphanet:48377] xref: DOID:8508 {source="EFO:1000771", source="MONDO:equivalentTo"} xref: EFO:1000771 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:13606 {source="MONDO:GARD"} @@ -131049,7 +131058,7 @@ synonym: "disease of sweat glands" RELATED [] synonym: "disease or disorder of sweat gland" EXACT [] synonym: "disorder of sweat gland" EXACT [MONDO:patterns/location_top] synonym: "disorder of sweat glands" RELATED [] -synonym: "sweat gland disease" EXACT [MONDO:patterns/location] +synonym: "sweat gland disease" EXACT [DOID:1383, MONDO:patterns/location] synonym: "sweat gland disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:1383 {source="MONDO:equivalentTo", source="EFO:1000772"} xref: ICD10CM:L74 {source="DOID:1383"} @@ -131109,7 +131118,7 @@ synonym: "subcorneal pustular dermatosis" NARROW [MESH:D012872] synonym: "vesicular skin disease" RELATED [MESH:D012872] synonym: "vesicular skin diseases" RELATED [MESH:D012872] synonym: "vesiculobullous dermatoses" RELATED [MESH:D012872] -synonym: "vesiculobullous skin disease" EXACT [MESH:D012872] +synonym: "vesiculobullous skin disease" EXACT [DOID:2731, MESH:D012872] synonym: "vesiculobullous skin diseases" RELATED [MESH:D012872] xref: DOID:2731 {source="MONDO:equivalentTo", source="EFO:1000774"} xref: EFO:1000774 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -131224,7 +131233,7 @@ id: MONDO:0006624 name: overactive bladder def: "Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present." [MESH:D053201] subset: otar {source="MONDO:OTAR"} -synonym: "overactive bladder" EXACT [MONDO:ambiguous] +synonym: "overactive bladder" EXACT [DOID:0070355, MONDO:ambiguous] synonym: "overactive bladder (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0070355 {source="MONDO:equivalentTo"} xref: EFO:1000781 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -131341,7 +131350,7 @@ id: MONDO:0006633 name: acalculous cholecystitis def: "Inflammation of the gallbladder in the absence of gallstones." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "acute acalculous cholecystitis" NARROW [DOID:2828] +synonym: "acute acalculous cholecystitis" NARROW [] synonym: "acute cholecystitis without calculus" EXACT [DOID:2828] synonym: "cholecystitis without calculus" EXACT [DOID:2828] xref: DOID:2828 {source="EFO:1000790", source="MONDO:equivalentTo"} @@ -131421,7 +131430,7 @@ def: "Acute renal failure caused by the cell death of the renal tubules. Causes subset: otar {source="MONDO:OTAR"} synonym: "acute renal failure with lesion of tubular necrosis" EXACT [DOID:12556, ICD9CM:584.5] synonym: "acute renal failure with tubular necrosis" EXACT [DOID:12556, NCIT:C34749] -synonym: "acute tubular necrosis" EXACT [DOID:12556] +synonym: "acute tubular necrosis" EXACT [DOID:12556, NCIT:C34749] synonym: "acute tubule necrosis" EXACT [DOID:12556] synonym: "ATN - acute tubular necrosis" EXACT [DOID:12556] xref: DOID:12556 {source="MONDO:equivalentTo", source="EFO:1000794"} @@ -131468,32 +131477,32 @@ subset: ordo_disorder {source="Orphanet:1501"} subset: orphanet_rare {source="Orphanet:1501"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACC" EXACT ABBREVIATION [ONCOTREE:ACC] +synonym: "ACC" EXACT ABBREVIATION [ONCOTREE:ACC, Orphanet:1501] synonym: "adenocarcinoma, adrenocortical, malignant" EXACT [NCIT:C9325] synonym: "Adenoid Cystic Carcinoma" EXACT [NORD:733] -synonym: "adrenal cortex adenocarcinoma" EXACT [DOID:3959, NCIT:C9325, NCIT:C9326] -synonym: "adrenal cortex cancer" BROAD [NCIT:C9325] +synonym: "adrenal cortex adenocarcinoma" EXACT [DOID:3959, NCIT:C9325] +synonym: "adrenal cortex cancer" BROAD [] synonym: "adrenal cortex carcinoma" EXACT [MONDO:patterns/location, NCIT:C9325] synonym: "adrenal cortical adenocarcinoma" EXACT [DOID:3959, MONDO:0002818, NCIT:C9325] -synonym: "adrenal cortical carcinoma" EXACT [NCIT:C9325] -synonym: "adrenal cortical carcinoma (morphologic abnormality)" EXACT [DOID:3948] -synonym: "adrenal cortical tumors" BROAD [DOID:660] +synonym: "adrenal cortical carcinoma" EXACT [DOID:3948, NCIT:C9325] +synonym: "adrenal cortical carcinoma (morphologic abnormality)" EXACT [] +synonym: "adrenal cortical tumors" BROAD [] synonym: "adrenal cortical tumours" BROAD OMO:0003005 [] -synonym: "adrenocortical cancer" BROAD [NCIT:C9325] -synonym: "adrenocortical carcinoma" EXACT [MONDO:0015460, MONDO:ambiguous, NCIT:C9325] +synonym: "adrenocortical cancer" BROAD [] +synonym: "adrenocortical carcinoma" EXACT [DOID:3948, MONDO:0015460, MONDO:ambiguous, NCIT:C9325, Orphanet:1501] synonym: "adrenocortical carcinoma (disease)" EXACT [MONDO:0005241] -synonym: "adrenocortical carcinoma, NOS" RELATED EXCLUDE [NCIT:C9325] -synonym: "cancer of the adrenal cortex" BROAD [NCIT:C9325] +synonym: "adrenocortical carcinoma, NOS" RELATED EXCLUDE [] +synonym: "cancer of the adrenal cortex" BROAD [] synonym: "carcinoma of adrenal cortex" EXACT [MONDO:patterns/carcinoma, NCIT:C9325] synonym: "carcinoma of the adrenal cortex" EXACT [DOID:3948, NCIT:C9325] synonym: "carcinoma, adrenocortical, malignant" EXACT [NCIT:C9325] synonym: "cortical cell carcinoma" EXACT [NCIT:C9325] -synonym: "malignant adrenocortical tumor" BROAD [DOID:660, NCIT:C9327] +synonym: "malignant adrenocortical tumor" BROAD [] synonym: "malignant adrenocortical tumour" BROAD OMO:0003005 [] -synonym: "malignant neoplasm of adrenal cortex" BROAD [DOID:660] -synonym: "malignant tumor of adrenal cortex" BROAD [DOID:660] +synonym: "malignant neoplasm of adrenal cortex" BROAD [] +synonym: "malignant tumor of adrenal cortex" BROAD [] synonym: "malignant tumour of adrenal cortex" BROAD OMO:0003005 [] -synonym: "neoplasm of adrenal cortex" BROAD EXCLUDE [DOID:660] +synonym: "neoplasm of adrenal cortex" BROAD EXCLUDE [] xref: DOID:3948 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0003093"} xref: DOID:3959 {source="MONDO:equivalentTo"} xref: DOID:660 {source="MONDO:equivalentTo", source="EFO:1000796"} @@ -131539,13 +131548,13 @@ id: MONDO:0006640 name: adrenal gland hyperfunction def: "Excess production of adrenal cortex hormones." [MESH:D000308] subset: otar {source="MONDO:OTAR"} -synonym: "adrenal gland hyperfunction" EXACT [MESH:D000308] +synonym: "adrenal gland hyperfunction" EXACT [DOID:3947, MESH:D000308] synonym: "adrenocortical hyperfunction" EXACT [DOID:3947] synonym: "disorder of corticoadrenal overactivity" RELATED [] synonym: "hyperadrenalism" EXACT [DOID:3947, MESH:D000308] synonym: "hyperadrenocorticism" RELATED [MESH:D000308] synonym: "hypercorticism" RELATED [MESH:D000308] -synonym: "hypercortisolemia" EXACT [NCIT:C113208] +synonym: "hypercortisolemia" EXACT [] synonym: "hypercortisolism" EXACT [DOID:3947] synonym: "hyperfunction, adrenal gland" RELATED [MESH:D000308] synonym: "hyperfunction, adrenocortical" RELATED [MESH:D000308] @@ -131618,7 +131627,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alcohol-induced heart muscle disease" EXACT [DOID:12935] -synonym: "alcoholic cardiomyopathy" EXACT [DOID:12935, ICD9CM:425.5] +synonym: "alcoholic cardiomyopathy" EXACT [DOID:12935, ICD10CM:I42.6, ICD9CM:425.5, NCIT:C53653] synonym: "dilated cardiomyopathy secondary to alcohol" EXACT [DOID:12935] xref: DOID:12935 {source="MONDO:equivalentTo", source="EFO:1000801"} xref: EFO:1000801 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -131643,10 +131652,10 @@ name: alcoholic liver cirrhosis def: "A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "alcoholic cirrhosis" EXACT [DOID:14018, NCIT:C34782] -synonym: "alcoholic cirrhosis of liver" EXACT [DOID:14018, ICD9CM:571.2] -synonym: "Laennec's cirrhosis" RELATED [DOID:14018] -synonym: "Laennec's cirrhosis, alcoholic" RELATED [DOID:14018] -synonym: "portal cirrhosis" RELATED [DOID:14018] +synonym: "alcoholic cirrhosis of liver" EXACT [DOID:14018, ICD10CM:K70.3, ICD9CM:571.2] +synonym: "Laennec's cirrhosis" RELATED [] +synonym: "Laennec's cirrhosis, alcoholic" RELATED [] +synonym: "portal cirrhosis" RELATED [] xref: CSP:1754-7677 {source="DOID:14018"} xref: DOID:14018 {source="MONDO:equivalentTo", source="EFO:1000802"} xref: EFO:1000802 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -131699,8 +131708,8 @@ name: angioleiomyoma def: "A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels." [NCIT:C3747] subset: otar {source="MONDO:OTAR"} synonym: "angioleiomyoma" EXACT [MONDO:0006084, NCIT:C3747] -synonym: "angiomyoma" EXACT [NCIT:C3747] -synonym: "angiomyoma (morphologic abnormality)" EXACT [DOID:4265] +synonym: "angiomyoma" EXACT [DOID:4265, NCIT:C3747] +synonym: "angiomyoma (morphologic abnormality)" EXACT [] synonym: "vascular leiomyoma" EXACT [DOID:4265, NCIT:C3747] xref: DOID:4265 {source="EFO:1000806", source="MONDO:equivalentTo"} xref: EFO:1000084 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -131803,9 +131812,9 @@ subset: gard_rare {source="GARD:10941", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:280886"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anterior uveitis" EXACT [MONDO:0017253, MONDO:ambiguous, NCIT:C35109] +synonym: "anterior uveitis" EXACT [DOID:1407, icd11.foundation:908233081, MONDO:0017253, MONDO:ambiguous, NCIT:C35109, Orphanet:280886] synonym: "anterior uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "iridocyclitis" NARROW [Orphanet:280886] +synonym: "iridocyclitis" NARROW [] xref: CSP:1114-9593 {source="DOID:1407"} xref: DOID:1407 {source="MONDO:equivalentTo", source="EFO:1000811"} xref: EFO:1000811 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -131837,7 +131846,7 @@ def: "Myocardial infarction in which the anterior wall of the heart is involved. comment: Editor note: todo - create uberon class subset: otar {source="MONDO:OTAR"} synonym: "acute anterior wall myocardial infarction" RELATED [MESH:D056988] -synonym: "anterolateral myocardial infarction" EXACT [MESH:D056988] +synonym: "anterolateral myocardial infarction" EXACT [DOID:5845, icd11.foundation:687792216, MESH:D056988] synonym: "anterolateral myocardial infarctions" RELATED [MESH:D056988] synonym: "anteroseptal myocardial infarction" RELATED [MESH:D056988] synonym: "anteroseptal myocardial infarctions" RELATED [MESH:D056988] @@ -131960,7 +131969,7 @@ id: MONDO:0006658 name: arteriolosclerosis def: "The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "arteriolosclerosis (morphologic abnormality)" EXACT [DOID:5162] +synonym: "arteriolosclerosis (morphologic abnormality)" EXACT [] xref: DOID:5162 {source="EFO:1000819", source="MONDO:equivalentTo"} xref: EFO:1000819 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:I70 {source="DOID:5162", source="MONDO:directSiblingOf"} @@ -131977,7 +131986,7 @@ id: MONDO:0006659 name: arteriosclerosis obliterans def: "Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension." [MESH:D001162] subset: otar {source="MONDO:OTAR"} -synonym: "arteriosclerosis obliterans (disorder) [ambiguous]" EXACT [DOID:5160] +synonym: "arteriosclerosis obliterans (disorder) [ambiguous]" EXACT [] xref: DOID:5160 {source="MONDO:equivalentTo", source="EFO:1000820"} xref: EFO:1000820 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:440.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -131997,8 +132006,8 @@ def: "A localized vasculitis resulting from deposition of antibody-antigen compl comment: Editor note: DO classifies as type III, NCIT as type I subset: otar {source="MONDO:OTAR"} synonym: "arthus phenomenon" EXACT [DOID:1556, NCIT:C34400] -synonym: "arthus reaction" EXACT [NCIT:C34400] -synonym: "arthus reaction (function)" EXACT [DOID:1556] +synonym: "arthus reaction" EXACT [DOID:1556, NCIT:C34400] +synonym: "arthus reaction (function)" EXACT [] synonym: "arthus type urticaria" EXACT [DOID:1556] xref: DOID:1556 {source="MONDO:equivalentTo", source="EFO:1000821"} xref: EFO:1000821 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -132027,8 +132036,8 @@ id: MONDO:0006662 name: aseptic meningitis def: "Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "acute aseptic meningitis" EXACT [DOID:12157] -synonym: "aseptic meningitis" EXACT [DOID:12157] +synonym: "acute aseptic meningitis" EXACT [DOID:12157, icd11.foundation:453360366] +synonym: "aseptic meningitis" EXACT [DOID:12157, icd11.foundation:453360366, NCIT:C118299] xref: DOID:12157 {source="MONDO:equivalentTo", source="EFO:1000823"} xref: EFO:1000823 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G03.0 {source="DOID:12157"} @@ -132056,20 +132065,20 @@ subset: orphanet_rare {source="Orphanet:137577"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "asphyxia - birth" EXACT [DOID:11088] -synonym: "asphyxia neonatorum" EXACT [MESH:D001238] +synonym: "asphyxia neonatorum" EXACT [DOID:11088, MESH:D001238] synonym: "asphyxia, in liveborn infant" EXACT [DOID:11088] -synonym: "birth asphyxia" EXACT [DOID:11088] +synonym: "birth asphyxia" EXACT [DOID:11088, NCIT:C116313] synonym: "birth depression" EXACT [NCIT:C116313] synonym: "fetal asphyxia" EXACT [NCIT:C116313] synonym: "foetal asphyxia" EXACT OMO:0003005 [] -synonym: "HIE" EXACT [Orphanet:137577] +synonym: "HIE" EXACT ABBREVIATION [Orphanet:137577] synonym: "hypoxia neonatorum" EXACT [GARD:0005857] synonym: "hypoxic and ischaemic brain injury in the newborn" RELATED OMO:0003005 [] -synonym: "hypoxic and ischemic brain injury in the newborn" RELATED [Orphanet:137577] +synonym: "hypoxic and ischemic brain injury in the newborn" RELATED [] synonym: "hypoxic-ischemic encephalopathy" EXACT [Orphanet:137577] synonym: "intrapartum asphyxia" EXACT [NCIT:C116313] synonym: "neonatal hypoxic and ischaemic brain injury" RELATED OMO:0003005 [] -synonym: "neonatal hypoxic and ischemic brain injury" RELATED [Orphanet:137577] +synonym: "neonatal hypoxic and ischemic brain injury" RELATED [] synonym: "perinatal asphyxia" EXACT [NCIT:C116313] synonym: "perinatal depression" EXACT [NCIT:C116313] synonym: "perinatal hypoxia" EXACT [Orphanet:137577] @@ -132105,14 +132114,14 @@ subset: ordo_morphological_anomaly {source="Orphanet:1478"} subset: orphanet_rare {source="Orphanet:1478"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ASD" EXACT ABBREVIATION [Orphanet:1478] -synonym: "atrial septal defect" EXACT [DOID:1882, Orphanet:1478] +synonym: "ASD" EXACT ABBREVIATION [NCIT:C84473, Orphanet:1478] +synonym: "atrial septal defect" EXACT [DOID:1882, NCIT:C84473, OMIMPS:108800, Orphanet:1478] synonym: "Atrial Septal Defects" EXACT [NORD:820] synonym: "atrial septum defect" EXACT [NCIT:C84473] synonym: "atrioseptal defect" EXACT [DOID:1882] synonym: "auricular septal defect" EXACT [DOID:1882] synonym: "congenital atrial septal defect" EXACT [DOID:1882] -synonym: "interatrial communication" RELATED [Orphanet:1478] +synonym: "interatrial communication" RELATED [] synonym: "interatrial septal defect" EXACT [DOID:1882] synonym: "interauricular communication" EXACT [Orphanet:1478] synonym: "interauricular septal defect" EXACT [DOID:1882] @@ -132148,8 +132157,8 @@ name: chronic atrophic gastritis def: "Atrophic gastritis that is persistent and long-standing." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "atrophic Gastritides" EXACT [MESH:D005757] -synonym: "atrophic gastritis" EXACT [MESH:D005757] -synonym: "gastric atrophy" EXACT [DOID:8929, NCIT:C7405] +synonym: "atrophic gastritis" EXACT [DOID:8929, MESH:D005757] +synonym: "gastric atrophy" EXACT [DOID:8929, ICD10CM:K29.4, NCIT:C7405] synonym: "Gastritides, atrophic" EXACT [MESH:D005757] xref: DOID:8929 {source="EFO:1000826", source="MONDO:equivalentTo"} xref: EFO:1000826 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -132234,7 +132243,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bacteria caused endocarditis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteria endocarditis (disease)" EXACT [] -synonym: "bacterial endocarditis" EXACT [MONDO:ambiguous] +synonym: "bacterial endocarditis" EXACT [icd11.foundation:1924438986, MONDO:ambiguous, NCIT:C128359] synonym: "bacterial endocarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:762 {source="EFO:1000830", source="MONDO:obsolete"} xref: EFO:1000830 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -132318,7 +132327,7 @@ id: MONDO:0006672 name: balanitis def: "An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge." [NCIT:C26705] subset: otar {source="MONDO:OTAR"} -synonym: "balanitis" EXACT [NCIT:C26705] +synonym: "balanitis" EXACT [DOID:13033, ICD10CM:N48.1, NCIT:C26705] synonym: "glans penis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of glans penis" EXACT [] xref: DOID:13033 {source="MONDO:equivalentTo", source="EFO:1000833"} @@ -132348,12 +132357,12 @@ def: "An epithelial neoplasm of the anterior pituitary gland in which the neopla subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "basophil adenoma" RELATED [DOID:4542] +synonym: "basophil adenoma" RELATED [] synonym: "basophilic adenoma" EXACT [NCIT:C2856] synonym: "basophilic pituitary gland adenoma" EXACT [NCIT:C2856] synonym: "mucoid cell adenoma" EXACT [NCIT:C2856] synonym: "pituitary basophilic adenoma" EXACT [NCIT:C2856] -synonym: "pituitary gland basophilic adenoma" EXACT [DOID:4542, NCIT:C2856] +synonym: "pituitary gland basophilic adenoma" EXACT [DOID:4542] xref: DOID:4542 {source="MONDO:equivalentTo", source="EFO:1000834"} xref: EFO:1000834 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8300/0 {source="NCIT:C2856"} @@ -132370,9 +132379,9 @@ id: MONDO:0006674 name: obsolete benign fibrous mesothelioma def: "OBSOLETE. A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." [EFO:1000835] comment: From NCIT: Fibrous mesothelioma (benign) is a terribly antiquated term. Even decades ago when it was reported, it was not described as being associated with neoplastic mesothelial cell proliferation. -synonym: "fibrous mesothelioma, benign" EXACT [DOID:2653] -synonym: "fibrous mesothelioma, benign (morphologic abnormality)" EXACT [DOID:2653, EFO:1000835] -synonym: "localized benign fibrous mesothelioma" EXACT [DOID:2653, EFO:1000835, NCIT:C4281] +synonym: "fibrous mesothelioma, benign" EXACT [] +synonym: "fibrous mesothelioma, benign (morphologic abnormality)" EXACT [EFO:1000835] +synonym: "localized benign fibrous mesothelioma" EXACT [EFO:1000835] synonym: "solitary fibrous tumor, pleural" RELATED [EFO:1000835] xref: DOID:2653 {source="MONDO:obsoleteEquivalent", source="EFO:1000835"} xref: MESH:D054363 {source="DOID:2653", source="MONDO:obsoleteEquivalent", source="EFO:1000835"} @@ -132397,8 +132406,8 @@ def: "Beriberi is a condition that occurs in people who are deficient in thiamin comment: Editor note: check if beriberi should be made a subclass of TD subset: otar {source="MONDO:OTAR"} synonym: "Beri Beri" EXACT [NCIT:C34418] -synonym: "thiamine deficiency" EXACT [GARD:0009948] -synonym: "vitamin B1 deficiency" EXACT [GARD:0009948] +synonym: "thiamine deficiency" EXACT [GARD:0009948, NCIT:C34418] +synonym: "vitamin B1 deficiency" EXACT [GARD:0009948, NCIT:C34418] xref: DOID:0070313 {source="MONDO:equivalentTo"} xref: DOID:13725 {source="EFO:1000837", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: EFO:1000837 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -132457,7 +132466,7 @@ id: MONDO:0006679 name: bladder neck obstruction def: "Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "obstruction of bladder neck or vesicourethral orifice" EXACT [DOID:13948] +synonym: "obstruction of bladder neck or vesicourethral orifice" EXACT [DOID:13948, icd11.foundation:441939472] xref: DOID:13948 {source="MONDO:equivalentTo", source="EFO:1000840"} xref: EFO:1000840 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:N32.0 {source="MONDO:equivalentTo", source="DOID:13948"} @@ -132482,7 +132491,7 @@ def: "An intradermal nevus characterized by the presence of benign pigmented den subset: otar {source="MONDO:OTAR"} synonym: "benign mesenchymal melanoma" RELATED [GARD:0008452] synonym: "blue neuronevus" RELATED [GARD:0008452] -synonym: "blue nevus" EXACT [GARD:0008452] +synonym: "blue nevus" EXACT [GARD:0008452, NCIT:C3803] synonym: "blue Nevus of skin" EXACT [NCIT:C3803] synonym: "blue Nevus of the skin" EXACT [NCIT:C3803] synonym: "blue skin Nevus" EXACT [NCIT:C3803] @@ -132619,7 +132628,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "brain infarction of brainstem" EXACT [MONDO:design_pattern] synonym: "brainstem brain infarction" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "brainstem infarction" EXACT [DOID:3523] -synonym: "brainstem infarction NOS" RELATED EXCLUDE [DOID:3523] +synonym: "brainstem infarction NOS" RELATED EXCLUDE [] xref: DOID:3523 {source="MONDO:equivalentTo", source="EFO:1000847"} xref: EFO:1000847 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:434.91 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -132644,8 +132653,8 @@ subset: orphanet_rare {source="Orphanet:353253"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BMS" EXACT ABBREVIATION [Orphanet:353253] -synonym: "oral dysesthesia" EXACT [Orphanet:353253] -synonym: "Orodynia" EXACT [DOID:4331, Orphanet:353253] +synonym: "oral dysesthesia" EXACT [NCIT:C62545, Orphanet:353253] +synonym: "Orodynia" EXACT [DOID:4331, icd11.foundation:618998878, Orphanet:353253] synonym: "stomatodynia" EXACT [Orphanet:353253] synonym: "Stomatopyrosis" EXACT [DOID:4331, Orphanet:353253] xref: DOID:4331 {source="EFO:1000850", source="MONDO:equivalentTo"} @@ -132768,7 +132777,7 @@ id: MONDO:0006694 name: cerebral atherosclerosis def: "Atherosclerosis of the cerebral vasculature." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "cerebral atherosclerosis" EXACT [DOID:12720, ICD9CM:437.0] +synonym: "cerebral atherosclerosis" EXACT [DOID:12720, ICD10CM:I67.2, icd11.foundation:1710003414, ICD9CM:437.0, NCIT:C34459] xref: DOID:12720 {source="MONDO:equivalentTo", source="EFO:1000860"} xref: EFO:1000860 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:I67.2 {source="MONDO:equivalentTo", source="EFO:1000860", source="DOID:12720"} @@ -132854,8 +132863,8 @@ id: MONDO:0006700 name: choroid cancer def: "A malignant neoplasm involving the optic choroid." [https://orcid.org/0000-0002-6601-2165] synonym: "cancer of optic choroid" EXACT [MONDO:patterns/cancer] -synonym: "choroid neoplasm" BROAD [DOID:12759] -synonym: "choroidal tumor" BROAD [DOID:12759, NCIT:C2949] +synonym: "choroid neoplasm" BROAD [] +synonym: "choroidal tumor" BROAD [] synonym: "choroidal tumour" BROAD OMO:0003005 [] synonym: "malignant choroid neoplasm" EXACT [NCIT:C3566] synonym: "malignant choroid tumor" EXACT [NCIT:C3566] @@ -132864,11 +132873,11 @@ synonym: "malignant neoplasm of choroid" EXACT [NCIT:C3566] synonym: "malignant neoplasm of optic choroid" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the choroid" EXACT [NCIT:C3566] synonym: "malignant optic choroid neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant tumor of choroid" EXACT [NCIT:C3566] +synonym: "malignant tumor of choroid" EXACT [DOID:12759, NCIT:C3566] synonym: "malignant tumor of the choroid" EXACT [DOID:12759, NCIT:C3566] synonym: "malignant tumour of choroid" EXACT OMO:0003005 [] synonym: "malignant tumour of the choroid" EXACT OMO:0003005 [] -synonym: "neoplasm of choroid" RELATED EXCLUDE [DOID:12759] +synonym: "neoplasm of choroid" RELATED EXCLUDE [] synonym: "optic choroid cancer" EXACT [MONDO:patterns/location] xref: DOID:12759 {source="MONDO:equivalentTo", source="EFO:1000866"} xref: ICD10CM:C69.3 {source="DOID:12759"} @@ -132918,11 +132927,11 @@ subset: ordo_disorder {source="Orphanet:2932"} subset: orphanet_rare {source="Orphanet:2932"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chronic inflammatory demyelinating polyneuritis" RELATED [DOID:2536] -synonym: "chronic inflammatory demyelinating polyneuropathy" EXACT [NCIT:C84636] -synonym: "chronic inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:2932] +synonym: "chronic inflammatory demyelinating polyneuritis" RELATED [] +synonym: "chronic inflammatory demyelinating polyneuropathy" EXACT [icd11.foundation:224318510, NCIT:C84636, Orphanet:2932] +synonym: "chronic inflammatory demyelinating polyradiculoneuropathy" EXACT [DOID:5213, NCIT:C84636, Orphanet:2932] synonym: "chronic relapsing polyneuropathy" EXACT [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/] -synonym: "CIDP" EXACT ABBREVIATION [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/, OMIM:139393, Orphanet:2932] +synonym: "CIDP" EXACT ABBREVIATION [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/, NCIT:C84636, Orphanet:2932] xref: DOID:2536 {source="MONDO:relatedTo"} xref: DOID:5213 {source="MONDO:equivalentTo", source="EFO:1000868"} xref: EFO:1000868 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -133049,7 +133058,7 @@ def: "Tumor or cancer of the common bile duct including the ampulla of vater and synonym: "common bile duct neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "common bile duct tumor" EXACT [MONDO:patterns/neoplasm] synonym: "common bile duct tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of common bile duct" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of common bile duct" EXACT [DOID:4608, MONDO:patterns/neoplasm] synonym: "tumor of common bile duct" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of common bile duct" EXACT OMO:0003005 [] xref: DOID:4608 {source="MONDO:equivalentTo", source="EFO:1000876"} @@ -133089,7 +133098,7 @@ id: MONDO:0006711 name: constrictive pericarditis def: "A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "constrictive pericarditis" EXACT [DOID:11481, ICD9CM:423.2, MONDO:ambiguous] +synonym: "constrictive pericarditis" EXACT [DOID:11481, icd11.foundation:1722995229, ICD9CM:423.2, MONDO:ambiguous, NCIT:C78246] synonym: "constrictive pericarditis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:11481 {source="MONDO:equivalentTo", source="EFO:1000878"} xref: EFO:1000878 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -133232,21 +133241,21 @@ synonym: "benign fibrous cutaneous histiocytoma" EXACT [NCIT:C6801] synonym: "benign fibrous histiocytoma of skin" EXACT [NCIT:C6801] synonym: "benign fibrous histiocytoma of the skin" EXACT [NCIT:C6801] synonym: "benign skin fibrous histiocytoma" EXACT [NCIT:C6801] -synonym: "cutaneous fibrous histiocytoma" EXACT [NCIT:C6801] +synonym: "cutaneous fibrous histiocytoma" EXACT [DOID:4418, NCIT:C6801] synonym: "dermatofibroma" EXACT [DOID:4418, NCIT:C6801] -synonym: "dermatofibroma NOS" RELATED EXCLUDE [DOID:4418] -synonym: "dermatofibroma, no ICD-O subtype" EXACT [DOID:4418] -synonym: "dermatofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [DOID:4418] +synonym: "dermatofibroma NOS" RELATED EXCLUDE [] +synonym: "dermatofibroma, no ICD-O subtype" EXACT [] +synonym: "dermatofibroma, no ICD-O subtype (morphologic abnormality)" EXACT [] synonym: "DF" RELATED ABBREVIATION [ONCOTREE:DF] -synonym: "fibrohistiocytic neoplasm" EXACT [DOID:4418, NCIT:C8402] -synonym: "fibrohistiocytic tumor" RELATED [DOID:4418] +synonym: "fibrohistiocytic neoplasm" EXACT [] +synonym: "fibrohistiocytic tumor" RELATED [] synonym: "fibrohistiocytic tumour" RELATED OMO:0003005 [] -synonym: "fibrous histiocytoma of skin" EXACT [NCIT:C6801] +synonym: "fibrous histiocytoma of skin" EXACT [DOID:4418, NCIT:C6801] synonym: "fibrous histiocytoma of the skin" EXACT [NCIT:C6801] synonym: "fibrous xanthoma of skin" EXACT [DOID:4418] -synonym: "pleomorphic fibroma" RELATED [DOID:4418] +synonym: "pleomorphic fibroma" RELATED [] synonym: "sclerosing angioma" EXACT [DOID:4418] -synonym: "sclerosing angioma (morphologic abnormality)" EXACT [DOID:4418] +synonym: "sclerosing angioma (morphologic abnormality)" EXACT [] synonym: "sclerosing angioma of skin" EXACT [DOID:4418] xref: DOID:4418 {source="MONDO:equivalentTo", source="EFO:1000885"} xref: EFO:1000885 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -133343,8 +133352,8 @@ def: "A condition that results from excessive fluoride ingestion during tooth de subset: otar {source="MONDO:OTAR"} synonym: "fluorosis" EXACT [NCIT:C85059] synonym: "intrinsic enamel discolouration of fluorosis" EXACT [DOID:13711] -synonym: "mottled teeth" EXACT [DOID:13711, ICD9CM:520.3] -synonym: "mottling of enamel" EXACT [DOID:13711] +synonym: "mottled teeth" EXACT [DOID:13711, ICD10CM:K00.3, ICD9CM:520.3] +synonym: "mottling of enamel" EXACT [DOID:13711, ICD10CM:K00.3] xref: DOID:13711 {source="EFO:1000892", source="MONDO:equivalentTo"} xref: EFO:1000892 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K00.3 {source="DOID:13711", source="MONDO:equivalentTo"} @@ -133394,7 +133403,7 @@ def: "A congenital or acquired abnormality characterized by elevation of the hem subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diaphragmatic eventration" EXACT [MONDO:ambiguous] +synonym: "diaphragmatic eventration" EXACT [DOID:10480, MONDO:ambiguous, NCIT:C98912] synonym: "diaphragmatic eventration (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10480 {source="MONDO:equivalentTo", source="EFO:1000898"} xref: EFO:1000898 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -133516,9 +133525,9 @@ name: dry eye syndrome def: "A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye." [NCIT:C34553] subset: otar {source="MONDO:OTAR"} synonym: "dry eye" EXACT [NCIT:C34553] -synonym: "dry eye syndrome" EXACT [NCIT:C34553] -synonym: "dry eye(s)" EXACT [NCIT:C34553] -synonym: "eye(s), dry" EXACT [NCIT:C34553] +synonym: "dry eye syndrome" EXACT [DOID:10140, NCIT:C34553] +synonym: "dry eye(s)" EXACT [] +synonym: "eye(s), dry" EXACT [] synonym: "KCS" EXACT ABBREVIATION [DOID:12895] synonym: "keratoconjunctivitis sicca" EXACT [DOID:12895, EFO:1001001, MESH:D007638, NCIT:C34553] synonym: "sicca, keratoconjunctivitis" EXACT [MESH:D007638] @@ -133563,10 +133572,10 @@ synonym: "benign tumor of duodenum" EXACT [NCIT:C4775] synonym: "benign tumor of the duodenum" EXACT [NCIT:C4775] synonym: "benign tumour of duodenum" EXACT OMO:0003005 [] synonym: "benign tumour of the duodenum" EXACT OMO:0003005 [] -synonym: "duodenal benign neoplasm" RELATED [DOID:1737] +synonym: "duodenal benign neoplasm" RELATED [] synonym: "duodenum benign neoplasm" EXACT [MONDO:patterns/location] -synonym: "neoplasm of duodenum" RELATED EXCLUDE [DOID:1737] -synonym: "neoplasm of the duodenum" BROAD [DOID:1737, NCIT:C2995] +synonym: "neoplasm of duodenum" RELATED EXCLUDE [] +synonym: "neoplasm of the duodenum" BROAD [] xref: DOID:1737 {source="EFO:1000907", source="MONDO:equivalentTo"} xref: EFO:1000907 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MedDRA:10004251 {source="EFO:1000907"} @@ -133587,7 +133596,7 @@ id: MONDO:0006735 name: duodenogastric reflux def: "Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach." [MESH:D004383] subset: otar {source="MONDO:OTAR"} -synonym: "duodenogastric reflux (finding)" EXACT [DOID:4071] +synonym: "duodenogastric reflux (finding)" EXACT [] xref: DOID:4071 {source="MONDO:equivalentTo", source="EFO:1000909"} xref: EFO:1000909 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MedDRA:10060865 {source="EFO:1000909"} @@ -133644,7 +133653,7 @@ synonym: "eccrine acrospiroma" EXACT [DOID:5442, GARD:0005726, MESH:D018250] synonym: "eccrine Acrospiromas" RELATED [MESH:D018250] synonym: "eccrine hidradenoma" EXACT [DOID:5442] synonym: "eccrine hidradenoma of skin" EXACT [DOID:5442] -synonym: "eccrine poroma" EXACT [NCIT:C27273] +synonym: "eccrine poroma" EXACT [] synonym: "hidradenoma" RELATED [GARD:0005726, MESH:D018250] synonym: "hidradenoma, solid-cystic" RELATED [MESH:D018250] synonym: "Hidradenomas" RELATED [MESH:D018250] @@ -133655,8 +133664,8 @@ synonym: "Hidradrenomas, clear-cell" RELATED [MESH:D018250] synonym: "Hidradrenomas, nodular" RELATED [MESH:D018250] synonym: "nodular Hidradrenoma" RELATED [MESH:D018250] synonym: "nodular Hidradrenomas" RELATED [MESH:D018250] -synonym: "poroma" EXACT [DOID:5442] -synonym: "poroma (acrospiroma)" EXACT [DOID:5442, NCIT:C27273] +synonym: "poroma" EXACT [DOID:5442, NCIT:C27273] +synonym: "poroma (acrospiroma)" EXACT [] synonym: "poroma/acrospiroma" RELATED [ONCOTREE:PORO] synonym: "solid cystic hidradenoma" RELATED [MESH:D018250] synonym: "solid-cystic hidradenoma" RELATED [MESH:D018250] @@ -133684,7 +133693,7 @@ name: Ehrlich tumor carcinoma def: "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." [MESH:D002286] subset: otar {source="MONDO:OTAR"} synonym: "Ehrlich's tumor" EXACT [DOID:5050] -synonym: "Ehrlich's tumour" EXACT OMO:0003005 [] +synonym: "Ehrlich's tumour" EXACT OMO:0003005 [DOID:5050] xref: DOID:5050 {source="MONDO:equivalentTo", source="EFO:1000913"} xref: EFO:1000913 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:40103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -133698,7 +133707,7 @@ name: empty sella syndrome def: "Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person." [https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome] subset: otar {source="MONDO:OTAR"} synonym: "empty sella" EXACT [NCIT:C84686] -synonym: "empty sella syndrome" EXACT [DOID:3642] +synonym: "empty sella syndrome" EXACT [DOID:3642, icd11.foundation:49112094, NCIT:C84686] synonym: "empty sella turcica" RELATED [GARD:0006331] xref: DOID:3642 {source="EFO:1000914", source="MONDO:equivalentTo"} xref: EFO:1000914 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -133737,10 +133746,10 @@ id: MONDO:0006742 name: endemic goiter def: "Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "iodine-deficiency-related endemic goiter" EXACT [DOID:13198] -synonym: "iodine-deficiency-related endemic goitre" EXACT OMO:0003005 [] -synonym: "simple goiter" EXACT [DOID:13198, NCIT:C35023] -synonym: "simple goitre" EXACT OMO:0003005 [] +synonym: "iodine-deficiency-related endemic goiter" EXACT [] +synonym: "iodine-deficiency-related endemic goitre" EXACT OMO:0003005 [DOID:13198] +synonym: "simple goiter" EXACT [NCIT:C35023] +synonym: "simple goitre" EXACT OMO:0003005 [DOID:13198] xref: DOID:13198 {source="EFO:1000916", source="MONDO:equivalentTo"} xref: EFO:1000916 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E01.0 {source="DOID:13198"} @@ -133810,17 +133819,18 @@ subset: orphanet_rare {source="Orphanet:213711"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Empty Sella Syndrome" EXACT [NORD:1086] -synonym: "endometrial stromal sarcoma" EXACT [MESH:D018203, NCIT:C8973] +synonym: "endometrial stromal sarcoma" EXACT [DOID:4226, MESH:D018203, NCIT:C8973, Orphanet:213711] synonym: "endometrial stromal sarcoma, high grade" EXACT [DOID:4226] synonym: "endometrial stromal sarcomas" EXACT [MESH:D018203] synonym: "endometrioid stromal sarcoma" EXACT [NCIT:C8973] -synonym: "ess" EXACT [DOID:4226, NCIT:C8973, ONCOTREE:ESS] +synonym: "ESS" EXACT ABBREVIATION [DOID:4226, NCIT:C8973] +synonym: "ess" EXACT [ONCOTREE:ESS] synonym: "sarcomas, endometrial stromal" EXACT [MESH:D018203] synonym: "stromal sarcoma of the corpus uteri" EXACT [Orphanet:213711] synonym: "stromal sarcoma, endometrial" EXACT [MESH:D018203] synonym: "stromal sarcoma, endometrial, malignant" EXACT [NCIT:C8973] synonym: "stromal sarcomas, endometrial" EXACT [MESH:D018203] -synonym: "undifferentiated endometrial sarcoma" EXACT [DOID:4226, NCIT:C8972] +synonym: "undifferentiated endometrial sarcoma" EXACT [DOID:4226] xref: DOID:4226 {source="EFO:1000919", source="MONDO:equivalentTo"} xref: EFO:1000919 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6339 {source="MONDO:GARD"} @@ -133851,7 +133861,7 @@ subset: gard_rare {source="GARD:6340", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1092"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "African endomyocardial fibrosis" EXACT [DOID:12932] +synonym: "African endomyocardial fibrosis" EXACT [DOID:12932, icd11.foundation:365224859] synonym: "endomyocardial sclerosis" EXACT [DOID:12932] synonym: "obscure African cardiomyopathy" EXACT [DOID:12932] xref: DOID:12932 {source="MONDO:equivalentTo", source="EFO:1000921"} @@ -133958,7 +133968,7 @@ id: MONDO:0006752 name: Erysipelothrix rhusiopathiae infectious disease def: "A disease caused by infection with Erysipelothrix rhusiopathiae." [MONDO:patterns/infectious_disease_by_agent] subset: otar {source="MONDO:OTAR"} -synonym: "erysipeloid" EXACT [MONDO:0000237] +synonym: "erysipeloid" EXACT [DOID:0050061, ICD10CM:A26, MONDO:0000237] synonym: "Erysipelothrix rhusiopathiae caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Erysipelothrix rhusiopathiae disease or disorder" EXACT [] xref: DOID:0050061 {source="MONDO:equivalentTo"} @@ -134008,9 +134018,9 @@ id: MONDO:0006755 name: euthyroid sick syndrome def: "Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "euthyroid sick syndrome" EXACT [DOID:2856, ICD9CM:790.94] +synonym: "euthyroid sick syndrome" EXACT [DOID:2856, ICD9CM:790.94, NCIT:C113170] synonym: "sick euthyroid syndrome" EXACT [NCIT:C113170] -synonym: "sick-euthyroid syndrome" EXACT [DOID:2856] +synonym: "sick-euthyroid syndrome" EXACT [DOID:2856, ICD10CM:E07.81] xref: DOID:2856 {source="MONDO:equivalentTo", source="EFO:1000931"} xref: EFO:1000931 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E07.81 {source="MONDO:equivalentTo", source="DOID:2856"} @@ -134037,8 +134047,8 @@ def: "Impairment of the bile flow caused by an obstruction in the portion of the subset: otar {source="MONDO:OTAR"} synonym: "cholestasis of extrahepatic bile duct" EXACT [MONDO:design_pattern] synonym: "extrahepatic bile duct cholestasis" EXACT [MONDO:patterns/location] -synonym: "extrahepatic biliary stasis" EXACT [DOID:13619, NCIT:C34420] -synonym: "extrahepatic cholestasis (finding)" EXACT [DOID:13619] +synonym: "extrahepatic biliary stasis" EXACT [DOID:13619] +synonym: "extrahepatic cholestasis (finding)" EXACT [] synonym: "extrahepatic obstructive biliary disease" EXACT [DOID:13619] xref: DOID:13619 {source="MONDO:equivalentTo", source="EFO:1000933"} xref: EFO:1000933 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -134102,7 +134112,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "EF - erythroblastosis foetalis" EXACT [DOID:1098] -synonym: "erythroblastosis fetalis" EXACT [DOID:1098] +synonym: "erythroblastosis fetalis" EXACT [DOID:1098, NCIT:C101304] synonym: "haemolytic disease due to rhesus isoimmunisation" EXACT [DOID:1098] synonym: "HDFN" EXACT ABBREVIATION [NCIT:C101304] synonym: "hemolytic disease of the fetus or newborn" EXACT [NCIT:C101304] @@ -134140,7 +134150,7 @@ id: MONDO:0006761 name: fibromuscular dysplasia def: "A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "fibromuscular dysplasia" EXACT [OMIM:135580] +synonym: "fibromuscular dysplasia" EXACT [NCIT:C84714] synonym: "fibromuscular dysplasia of arteries" EXACT [OMIM:135580] synonym: "FMDA" EXACT ABBREVIATION [OMIM:135580] xref: DOID:2389 {source="EFO:1000938", source="MONDO:obsolete"} @@ -134178,7 +134188,7 @@ def: "A painful inflammatory process leads to a mechanical block in active and p subset: otar {source="MONDO:OTAR"} synonym: "adhesions-capsulitis,shoulder" EXACT [DOID:14188] synonym: "adhesive capsulitis" EXACT [https://orcid.org/0000-0002-0736-9199] -synonym: "adhesive capsulitis of shoulder" EXACT [DOID:14188, ICD9CM:726.0] +synonym: "adhesive capsulitis of shoulder" EXACT [DOID:14188, ICD10CM:M75.0, ICD9CM:726.0] xref: DOID:14188 {source="MONDO:equivalentTo", source="EFO:1000941"} xref: EFO:1000941 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:M75.0 {source="MONDO:equivalentTo", source="DOID:14188"} @@ -134247,7 +134257,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:848 ! Fusobacterium id: MONDO:0006766 name: gait apraxia def: "Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia." [MESH:D020235] -synonym: "Gait apraxia (finding)" EXACT [DOID:4260] +synonym: "Gait apraxia (finding)" EXACT [] xref: DOID:4260 {source="MONDO:equivalentTo", source="EFO:1000944"} xref: MedDRA:10070635 {source="EFO:1000944"} xref: MEDGEN:266930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -134262,7 +134272,7 @@ name: gastric antral vascular ectasia def: "Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding." [NCIT:C84724] subset: otar {source="MONDO:OTAR"} synonym: "GAVE" EXACT ABBREVIATION [Wikipedia:Gastric_antral_vascular_ectasia] -synonym: "watermelon stomach" EXACT [] +synonym: "watermelon stomach" EXACT [DOID:2493] xref: DOID:2493 {source="MONDO:equivalentTo", source="EFO:1000945"} xref: EFO:1000945 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MedDRA:10051585 {source="EFO:1000945"} @@ -134289,10 +134299,10 @@ name: gastroparesis def: "Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "gastric atonia" EXACT [DOID:11914] -synonym: "gastroparalysis" EXACT [DOID:11914] -synonym: "gastroparesis" EXACT [MONDO:ambiguous] +synonym: "gastroparalysis" EXACT [DOID:11914, ICD10CM:K31.84] +synonym: "gastroparesis" EXACT [DOID:11914, ICD10CM:K31.84, icd11.foundation:598423727, MONDO:ambiguous] synonym: "gastroparesis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "gastroparesis syndrome" EXACT [DOID:11914] +synonym: "gastroparesis syndrome" EXACT [DOID:11914, icd11.foundation:598423727] xref: DOID:11914 {source="EFO:1000948", source="MONDO:equivalentTo"} xref: EFO:1000948 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0002578 {source="MONDO:otherHierarchy"} @@ -134339,8 +134349,8 @@ id: MONDO:0006771 name: glossitis def: "Inflammation of the tongue." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "inflammation of tongue" EXACT [] -synonym: "tongue inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] +synonym: "inflammation of tongue" EXACT [icd11.foundation:843084384] +synonym: "tongue inflammation" EXACT [icd11.foundation:843084384, MONDO:patterns/inflammatory_disease_by_site] xref: DOID:1456 {source="MONDO:equivalentTo", source="EFO:1000951"} xref: EFO:1000951 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K14.0 {source="DOID:1456", source="MONDO:equivalentTo"} @@ -134428,8 +134438,8 @@ id: MONDO:0006778 name: halo nevus def: "A benign melanocytic nevus with a halo appearance." [NCIT:C7602] subset: otar {source="MONDO:OTAR"} -synonym: "halo nevi" EXACT [MONDO:0009322, OMIM:234300] -synonym: "leukoderma acquisitum Centrifugum of Sutton" RELATED [OMIM:234300] +synonym: "halo nevi" EXACT [MONDO:0009322] +synonym: "leukoderma acquisitum Centrifugum of Sutton" RELATED [] xref: DOID:2423 {source="EFO:1000958", source="MONDO:obsolete"} xref: EFO:1000958 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -134506,7 +134516,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:210 ! Helicobacter pylor id: MONDO:0006782 name: hemometra def: "Blood-filled uterus." [MESH:D006409] -synonym: "hematometra" EXACT [DOID:9958, ICD9CM:621.4] +synonym: "hematometra" EXACT [DOID:9958, ICD10CM:N85.7, ICD9CM:621.4] xref: DOID:9958 {source="MONDO:equivalentTo", source="EFO:1000962"} xref: ICD10CM:N85.7 {source="MONDO:equivalentTo", source="DOID:9958"} xref: ICD9:621.4 {source="MONDO:equivalentTo", source="DOID:9958", source="MONDO:i2s"} @@ -134539,7 +134549,7 @@ def: "A condition characterized as a coagulation disturbance in newborns due to subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hemorrhagic disease of newborn" EXACT [NCIT:C111857] +synonym: "hemorrhagic disease of newborn" EXACT [ICD10CM:P53, NCIT:C111857] synonym: "vitamin K deficiency bleeding in newborn" EXACT [NCIT:C111857] xref: DOID:11248 {source="EFO:1000964", source="MONDO:obsolete"} xref: EFO:1000964 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -134568,8 +134578,8 @@ id: MONDO:0006786 name: hepatic vein thrombosis def: "A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon." [MESH:D006502] subset: otar {source="MONDO:OTAR"} -synonym: "Budd-Chiari syndrome" RELATED [DOID:11512] -synonym: "hepatic vein thrombosis" EXACT [DOID:11512] +synonym: "Budd-Chiari syndrome" RELATED [] +synonym: "hepatic vein thrombosis" EXACT [DOID:11512, icd11.foundation:2131410813] xref: DOID:11512 {source="MONDO:equivalentTo", source="EFO:1000966"} xref: EFO:1000966 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:I82.0 {source="DOID:11512", source="MONDO:relatedTo"} @@ -134590,13 +134600,13 @@ id: MONDO:0006787 name: hidrocystoma def: "A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative." [NCIT:C3760] subset: otar {source="MONDO:OTAR"} -synonym: "apocrine cystadenoma" NARROW [DOID:3893] +synonym: "apocrine cystadenoma" NARROW [] synonym: "apocrine/eccrine hidrocystoma" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] synonym: "cystadenoma" RELATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] -synonym: "eccrine cystadenoma" NARROW [DOID:3893] +synonym: "eccrine cystadenoma" NARROW [] synonym: "eccrine hidrocystoma of skin" EXACT [DOID:3893] -synonym: "hidrocystoma" EXACT [NCIT:C3760] -synonym: "hidrocystoma (morphologic abnormality)" EXACT [DOID:3893] +synonym: "hidrocystoma" EXACT [DOID:3893, icd11.foundation:2040265542, NCIT:C3760] +synonym: "hidrocystoma (morphologic abnormality)" EXACT [] synonym: "Hydrocystoma" EXACT [NCIT:C3760] xref: DOID:3893 {source="MONDO:equivalentTo", source="EFO:1000967"} xref: EFO:1000967 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -134644,7 +134654,7 @@ id: MONDO:0006790 name: hypercementosis def: "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" [MESH:D006936] subset: otar {source="MONDO:OTAR"} -synonym: "cementation hyperplasia" EXACT [DOID:12733] +synonym: "cementation hyperplasia" EXACT [DOID:12733, ICD10CM:K03.4] xref: DOID:12733 {source="MONDO:equivalentTo", source="EFO:1000970"} xref: EFO:1000970 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K03.4 {source="DOID:12733", source="MONDO:equivalentTo", source="EFO:1000970"} @@ -134749,8 +134759,8 @@ def: "Overactive functioning of the spleen, resulting in excessive destruction o subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypersplenia" EXACT [DOID:6376] -synonym: "hypersplenism" EXACT [MONDO:ambiguous] +synonym: "hypersplenia" EXACT [DOID:6376, icd11.foundation:2093549625] +synonym: "hypersplenism" EXACT [DOID:6376, ICD10CM:D73.1, icd11.foundation:2093549625, MONDO:ambiguous, NCIT:C34714] synonym: "hypersplenism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:6376 {source="MONDO:equivalentTo", source="EFO:1000975"} xref: EFO:1000975 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -134824,7 +134834,7 @@ id: MONDO:0006798 name: hypervitaminosis A def: "A symptom complex resulting from ingesting excessive amounts of vitamin A." [MESH:D006986] subset: otar {source="MONDO:OTAR"} -synonym: "hypervitaminosis type A" EXACT [DOID:9972, EFO:1000978, MONDORULE:1] +synonym: "hypervitaminosis type A" EXACT [EFO:1000978, MONDORULE:1] xref: DOID:9972 {source="MONDO:equivalentTo", source="EFO:1000978"} xref: EFO:1000978 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E67.0 {source="MONDO:equivalentTo", source="DOID:9972", source="EFO:1000978"} @@ -134851,7 +134861,7 @@ synonym: "hypothalamus tumor" EXACT [MONDO:patterns/neoplasm] synonym: "hypothalamus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of hypothalamus" EXACT [MONDO:patterns/neoplasm, NCIT:C3129] synonym: "neoplasm of the hypothalamus" EXACT [DOID:3644, NCIT:C3129] -synonym: "tumor of hypothalamus" EXACT [MONDO:patterns/neoplasm, NCIT:C3129] +synonym: "tumor of hypothalamus" EXACT [DOID:3644, MONDO:patterns/neoplasm, NCIT:C3129] synonym: "tumor of the hypothalamus" EXACT [NCIT:C3129] synonym: "tumour of hypothalamus" EXACT OMO:0003005 [] synonym: "tumour of the hypothalamus" EXACT OMO:0003005 [] @@ -134874,12 +134884,12 @@ name: ideomotor apraxia def: "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" [MESH:D020240] subset: otar {source="MONDO:OTAR"} synonym: "classic apraxia" EXACT [DOID:4627] -synonym: "classic apraxia (finding) [ambiguous]" EXACT [DOID:4627] +synonym: "classic apraxia (finding) [ambiguous]" EXACT [] synonym: "ideomotor dyspraxia" EXACT [DOID:4627] synonym: "limb-kinetic apraxia" EXACT [DOID:4627] -synonym: "limb-kinetic apraxia (finding)" EXACT [DOID:4627] +synonym: "limb-kinetic apraxia (finding)" EXACT [] synonym: "transcortical apraxia" EXACT [DOID:4627] -synonym: "transcortical apraxia (finding)" EXACT [DOID:4627] +synonym: "transcortical apraxia (finding)" EXACT [] xref: DOID:4627 {source="EFO:1000980", source="MONDO:equivalentTo"} xref: EFO:1000980 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:315.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -134933,12 +134943,12 @@ synonym: "ectopic antidiuretic hormone secretion" EXACT [NCIT:C3988] synonym: "inappropriate ADH secretion" EXACT [NCIT:C3988] synonym: "inappropriate antidiuretic hormone secretion syndrome" EXACT [NCIT:C3988] synonym: "inappropriate Arginine vasopressin secretion" EXACT [NCIT:C3988] -synonym: "SIADH" EXACT ABBREVIATION [NCIT:C3988, Orphanet:83449] +synonym: "SIADH" EXACT ABBREVIATION [DOID:3401, NCIT:C3988] synonym: "syndrome of inappropriate antidiuretic hormone" EXACT [NCIT:C3988] synonym: "syndrome of inappropriate antidiuretic hormone secretion" EXACT [DOID:3401, NCIT:C3988] synonym: "syndrome of inappropriate secretion of ADH" EXACT [DOID:3401] synonym: "syndrome of inappropriate secretion of antidiuretic hormone" EXACT [DOID:3401] -synonym: "syndrome of inappropriate vasopressin secretion" EXACT [NCIT:C3988] +synonym: "syndrome of inappropriate vasopressin secretion" EXACT [DOID:3401, NCIT:C3988] xref: DOID:3401 {source="EFO:1000982", source="MONDO:equivalentTo"} xref: EFO:1000982 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E22.2 {source="DOID:3401"} @@ -134980,10 +134990,10 @@ subset: otar {source="MONDO:OTAR"} synonym: "breast cancer, inflammatory" RELATED [GARD:0006784] synonym: "IBC" RELATED ABBREVIATION [ONCOTREE:IBC] synonym: "inflammatory breast cancer" EXACT [NCIT:C4001] -synonym: "inflammatory breast carcinoma" EXACT [NCIT:C4001] -synonym: "inflammatory carcinoma of breast" EXACT [NCIT:C4001] +synonym: "inflammatory breast carcinoma" EXACT [DOID:6263, NCIT:C4001] +synonym: "inflammatory carcinoma of breast" EXACT [DOID:6263, NCIT:C4001] synonym: "inflammatory carcinoma of the breast" EXACT [NCIT:C4001] -synonym: "mastitis Carcinomatosa" EXACT [NCIT:C4001] +synonym: "mastitis Carcinomatosa" EXACT [DOID:6263, NCIT:C4001] synonym: "mastitis carcinomatosa" EXACT [DOID:6263, NCIT:C4001] xref: DOID:6263 {source="MONDO:equivalentTo", source="EFO:1000984"} xref: EFO:1000984 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -135007,7 +135017,7 @@ synonym: "angina at rest" EXACT [DOID:8805] synonym: "anginal chest pain at rest" EXACT [DOID:8805] synonym: "impending infarction" EXACT [DOID:8805] synonym: "Preinfarction angina" EXACT [DOID:8805] -synonym: "unstable angina" EXACT [DOID:8805, MTH:NOCODE] +synonym: "unstable angina" EXACT [DOID:8805, ICD10CM:I20.0, MTH:NOCODE] synonym: "worsening angina" EXACT [DOID:8805] xref: DOID:8805 {source="MONDO:equivalentTo", source="EFO:1000985"} xref: EFO:1000985 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -135044,10 +135054,10 @@ subset: orphanet_rare {source="Orphanet:279914"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chronic cyclitis" EXACT [DOID:12732] -synonym: "intermediate uveitis" EXACT [MONDO:ambiguous] +synonym: "intermediate uveitis" EXACT [DOID:12732, MONDO:ambiguous, NCIT:C35110, Orphanet:279914] synonym: "intermediate uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "IU" EXACT ABBREVIATION [Orphanet:279914] -synonym: "pars planitis" NARROW [NCIT:C35110] +synonym: "pars planitis" NARROW [] synonym: "peripheral uveoretinitis" EXACT [DOID:12732] xref: DOID:12732 {source="MONDO:equivalentTo", source="EFO:1000986"} xref: EFO:1000986 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -135073,8 +135083,8 @@ id: MONDO:0006807 name: intestinal perforation def: "A rupture in the wall of the small or large intestine due to traumatic or pathologic processes." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "bowel perforation" EXACT [NCIT:C39611] -synonym: "perforation of intestine" EXACT [DOID:2074, ICD9CM:569.83] +synonym: "bowel perforation" EXACT [] +synonym: "perforation of intestine" EXACT [DOID:2074, ICD9CM:569.83, NCIT:C39611] xref: DOID:2074 {source="MONDO:equivalentTo", source="EFO:1000987"} xref: EFO:1000987 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:P78.0 {source="EFO:1000987"} @@ -135194,7 +135204,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "inflammation of iris" EXACT [] synonym: "iris inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "iritis" EXACT [MONDO:ambiguous] +synonym: "iritis" EXACT [DOID:1406, MONDO:ambiguous, NCIT:C50621] synonym: "iritis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1406 {source="MONDO:equivalentTo", source="EFO:1000997"} xref: EFO:1000997 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -135243,36 +135253,36 @@ id: MONDO:0006816 name: arthropathy def: "Any disorder of the joints." [NCIT:C35760] subset: otar {source="MONDO:OTAR"} -synonym: "ankylosis of ankle and foot joint" NARROW [DOID:381] -synonym: "ankylosis of forearm joint" NARROW [DOID:381] -synonym: "ankylosis of hand joint" NARROW [DOID:381] +synonym: "ankylosis of ankle and foot joint" NARROW [] +synonym: "ankylosis of forearm joint" NARROW [] +synonym: "ankylosis of hand joint" NARROW [] synonym: "ankylosis of joint of ankle and/or foot" EXACT [DOID:381] synonym: "ankylosis of joint of forearm" EXACT [DOID:381] synonym: "ankylosis of joint of hand" EXACT [DOID:381] synonym: "ankylosis of joint of lower leg" EXACT [DOID:381] -synonym: "ankylosis of joint of multiple sites" NARROW [DOID:381] -synonym: "ankylosis of joint of pelvic region and thigh" NARROW [DOID:381] -synonym: "ankylosis of joint of shoulder region" NARROW [DOID:381] +synonym: "ankylosis of joint of multiple sites" NARROW [] +synonym: "ankylosis of joint of pelvic region and thigh" NARROW [] +synonym: "ankylosis of joint of shoulder region" NARROW [] synonym: "ankylosis of joint of upper arm" EXACT [DOID:381] -synonym: "ankylosis of lower leg joint" NARROW [DOID:381] -synonym: "ankylosis of multiple joints" NARROW [DOID:381] -synonym: "ankylosis of upper arm joint" NARROW [DOID:381] -synonym: "arthropathy" EXACT [NCIT:C35760] +synonym: "ankylosis of lower leg joint" NARROW [] +synonym: "ankylosis of multiple joints" NARROW [] +synonym: "ankylosis of upper arm joint" NARROW [] +synonym: "arthropathy" EXACT [DOID:381, NCIT:C35760] synonym: "arthrosis" RELATED [] synonym: "disease of skeletal joint" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of skeletal joint" EXACT [] synonym: "disorder of joint" RELATED [] synonym: "disorder of skeletal joint" EXACT [MONDO:patterns/location_top] -synonym: "disorder, Joint" EXACT [NCIT:C35760] -synonym: "infectious arthropathy" NARROW [DOID:381] -synonym: "Joint ankylosis of the ankle and foot" NARROW [DOID:381] +synonym: "disorder, Joint" EXACT [] +synonym: "infectious arthropathy" NARROW [] +synonym: "Joint ankylosis of the ankle and foot" NARROW [] synonym: "Joint ankylosis of the ankle and/or foot" EXACT [DOID:381] -synonym: "Joint ankylosis of the forearm" NARROW [DOID:381] -synonym: "Joint ankylosis of the hand" NARROW [DOID:381] -synonym: "Joint ankylosis of the lower leg" NARROW [DOID:381] -synonym: "Joint ankylosis of the pelvic region and thigh" NARROW [DOID:381] -synonym: "Joint ankylosis of the shoulder region" NARROW [DOID:381] -synonym: "Joint ankylosis of the upper arm" NARROW [DOID:381] +synonym: "Joint ankylosis of the forearm" NARROW [] +synonym: "Joint ankylosis of the hand" NARROW [] +synonym: "Joint ankylosis of the lower leg" NARROW [] +synonym: "Joint ankylosis of the pelvic region and thigh" NARROW [] +synonym: "Joint ankylosis of the shoulder region" NARROW [] +synonym: "Joint ankylosis of the upper arm" NARROW [] synonym: "joint disease" RELATED [] synonym: "Joint disorder" EXACT [NCIT:C35760] synonym: "joint disorder" RELATED [] @@ -135349,7 +135359,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "juxtacortical osteogenic sarcoma" EXACT [NCIT:C8969] -synonym: "juxtacortical osteosarcoma" EXACT [NCIT:C8969] +synonym: "juxtacortical osteosarcoma" EXACT [DOID:3373, NCIT:C8969] synonym: "PAOS" RELATED ABBREVIATION [ONCOTREE:PAOS] synonym: "parosteal osteogenic sarcoma" EXACT [DOID:3373, NCIT:C8969] synonym: "parosteal osteosarcoma" EXACT [DOID:3373, MTH:NOCODE, NCIT:C8969] @@ -135427,10 +135437,10 @@ def: "A sex chromosome disorder caused by the presence of an extra X chromosome subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "47,XXY syndrome" EXACT [NCIT:C34752, Orphanet:484] -synonym: "hypogonadotropic hypogonadism" RELATED [NCIT:C34752] -synonym: "Klinefelter syndrome" EXACT [DOID:1921, NCIT:C34752] -synonym: "Klinefelter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C34752] +synonym: "47,XXY syndrome" EXACT [NCIT:C34752] +synonym: "hypogonadotropic hypogonadism" RELATED [] +synonym: "Klinefelter syndrome" EXACT [DOID:1921, icd11.foundation:1937385304, NCIT:C34752] +synonym: "Klinefelter's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:1921, MONDO:LexicalVariant, NCIT:C34752] synonym: "Klinefelter's syndrome, XXY" EXACT [NCIT:C34752] synonym: "XXY syndrome" EXACT [DOID:1921, NCIT:C34752] synonym: "XXY syndrome (Klinefelter syndrome)" EXACT [NCIT:C34752] @@ -135513,9 +135523,9 @@ def: "A syndrome produced by severe protein deficiency, characterized by retarde subset: otar {source="MONDO:OTAR"} synonym: "Kwashiokor" EXACT [DOID:13579] synonym: "nutritional edema with dyspigmentation of skin and hair" EXACT [DOID:13579] -synonym: "nutritional edema with dyspigmentation of skin and/or hair" EXACT [DOID:13579] +synonym: "nutritional edema with dyspigmentation of skin and/or hair" EXACT [] synonym: "nutritional oedema with dyspigmentation of skin and hair" EXACT OMO:0003005 [] -synonym: "nutritional oedema with dyspigmentation of skin and/or hair" EXACT OMO:0003005 [] +synonym: "nutritional oedema with dyspigmentation of skin and/or hair" EXACT OMO:0003005 [DOID:13579] xref: DOID:13579 {source="MONDO:equivalentTo", source="EFO:1001009"} xref: EFO:1001009 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E40 {source="DOID:13579", source="MONDO:equivalentTo", source="EFO:1001009"} @@ -135539,7 +135549,7 @@ synonym: "Lateral medullary syndrome" RELATED [GARD:0009263] synonym: "PICA syndrome" RELATED [GARD:0009263] synonym: "Posterior inferior cerebellar artery syndrome" EXACT [DOID:3522, GARD:0009263] synonym: "Vertebral artery syndrome" RELATED [GARD:0009263] -synonym: "Wallenberg syndrome" EXACT [DOID:3522] +synonym: "Wallenberg syndrome" EXACT [DOID:3522, icd11.foundation:1606151456, NCIT:C84807] synonym: "Wallenberg's syndrome" EXACT [GARD:0009263, NCIT:C84807] xref: DOID:3522 {source="EFO:1001011", source="MONDO:equivalentTo"} xref: EFO:1001011 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -135562,7 +135572,7 @@ name: nasal cavity and paranasal sinus lethal midline granuloma def: "An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma." [NCIT:C8196] comment: Editor note: TODO granuloma DP subset: otar {source="MONDO:OTAR"} -synonym: "lethal midline granuloma" RELATED [DOID:9072] +synonym: "lethal midline granuloma" RELATED [] synonym: "malignant granuloma of face" EXACT [DOID:9072] synonym: "midfacial Necrotising lesion" EXACT [DOID:9072, NCIT:C8196] synonym: "Midline lethal granuloma of nasal cavity and paranasal sinus" EXACT [NCIT:C8196] @@ -135632,7 +135642,7 @@ def: "A disorder involving the aberrant infiltration and aggregation of leukocyt subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "leukostasis (morphologic abnormality)" EXACT [DOID:12986] +synonym: "leukostasis (morphologic abnormality)" EXACT [] xref: DOID:12986 {source="MONDO:equivalentTo", source="EFO:1001016"} xref: EFO:1001016 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MedDRA:10024404 {source="EFO:1001016"} @@ -135669,21 +135679,21 @@ name: lip cancer def: "A primary or metastatic malignant neoplasm involving the lip." [NCIT:C7485] subset: otar {source="MONDO:OTAR"} synonym: "cancer of lip" EXACT [MONDO:patterns/cancer] -synonym: "lip cancer" EXACT [MONDO:patterns/location] +synonym: "lip cancer" EXACT [DOID:8564, MONDO:patterns/location] synonym: "malignant Lip neoplasm" EXACT [NCIT:C7485] -synonym: "malignant lip neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant lip neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7485] synonym: "malignant Lip tumor" EXACT [NCIT:C7485] synonym: "malignant Lip tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of commissure of lip" EXACT [DOID:8564] synonym: "malignant neoplasm of external Lip, not specified as upper or lower" EXACT [DOID:8564] synonym: "malignant neoplasm of labial commissure of lip" EXACT [DOID:8564] -synonym: "malignant neoplasm of Lip" EXACT [NCIT:C7485] -synonym: "malignant neoplasm of lip" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of Lip" EXACT [DOID:8564, ICD10CM:C00, NCIT:C7485] +synonym: "malignant neoplasm of lip" EXACT [DOID:8564, ICD10CM:C00, MONDO:patterns/cancer, NCIT:C7485] synonym: "malignant neoplasm of lip, external" EXACT [DOID:8564] synonym: "malignant neoplasm of lip, inner aspect" EXACT [DOID:8564, MTH:NOCODE] -synonym: "malignant neoplasm of lip, unspecified" EXACT [DOID:8564] -synonym: "malignant neoplasm of lip, unspecified, inner aspect" EXACT [DOID:8564] -synonym: "malignant neoplasm of lip, unspecified, vermilion border" EXACT [DOID:8564] +synonym: "malignant neoplasm of lip, unspecified" EXACT [] +synonym: "malignant neoplasm of lip, unspecified, inner aspect" EXACT [] +synonym: "malignant neoplasm of lip, unspecified, vermilion border" EXACT [] synonym: "malignant neoplasm of lip, vermilion border" EXACT [DOID:8564] synonym: "malignant neoplasm of lower lip, buccal aspect" EXACT [DOID:8564] synonym: "malignant neoplasm of lower lip, inner aspect" EXACT [DOID:8564] @@ -135694,17 +135704,17 @@ synonym: "malignant neoplasm of other sites of lip" EXACT [DOID:8564] synonym: "malignant neoplasm of the Lip" EXACT [NCIT:C7485] synonym: "malignant neoplasm of vermilion border of lip" EXACT [DOID:8564] synonym: "malignant tumor of commissure of lip" EXACT [DOID:8564, MTH:NOCODE] -synonym: "malignant tumor of labial commissure" EXACT [DOID:8564] +synonym: "malignant tumor of labial commissure" EXACT [] synonym: "malignant tumor of labial mucosa" EXACT [DOID:8564] -synonym: "malignant tumor of Lip" EXACT [NCIT:C7485] -synonym: "malignant tumor of lip" EXACT [DOID:8564] +synonym: "malignant tumor of Lip" EXACT [DOID:8564, NCIT:C7485] +synonym: "malignant tumor of lip" EXACT [DOID:8564, NCIT:C7485] synonym: "malignant tumor of lower labial mucosa" EXACT [DOID:8564] synonym: "malignant tumor of the Lip" EXACT [DOID:8564, NCIT:C7485] synonym: "malignant tumour of commissure of lip" EXACT OMO:0003005 [] -synonym: "malignant tumour of labial commissure" EXACT OMO:0003005 [] +synonym: "malignant tumour of labial commissure" EXACT OMO:0003005 [DOID:8564] synonym: "malignant tumour of labial mucosa" EXACT OMO:0003005 [] -synonym: "malignant tumour of Lip" EXACT OMO:0003005 [] -synonym: "malignant tumour of lip" EXACT OMO:0003005 [] +synonym: "malignant tumour of Lip" EXACT OMO:0003005 [DOID:8564] +synonym: "malignant tumour of lip" EXACT OMO:0003005 [DOID:8564] synonym: "malignant tumour of lower labial mucosa" EXACT OMO:0003005 [] synonym: "malignant tumour of the Lip" EXACT OMO:0003005 [] xref: DOID:8564 {source="MONDO:equivalentTo", source="EFO:1001019"} @@ -135744,15 +135754,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "idiopathic minimal change nephrotic syndrome" RELATED [GARD:0009147] -synonym: "lipoid nephrosis" EXACT [NCIT:C34844] +synonym: "lipoid nephrosis" EXACT [DOID:10966, NCIT:C34844] synonym: "MCNS" RELATED ABBREVIATION [GARD:0009147] synonym: "minimal change disease" EXACT [DOID:10966, NCIT:C34844] synonym: "minimal change glomerulonephritis" EXACT [DOID:10966, NCIT:C34844] synonym: "minimal change glomerulopathy" RELATED [GARD:0009147] synonym: "minimal change nephropathy" EXACT [NCIT:C34844] synonym: "minimal change nephrotic syndrome" RELATED [GARD:0009147] -synonym: "nephrotic syndrome with lesion of minimal change glomerulonephritis" RELATED [DOID:10966, ICD9CM:581.3] -synonym: "nephrotic syndrome with lesion of minimal change nephrotic syndrome" RELATED [DOID:10966] +synonym: "nephrotic syndrome with lesion of minimal change glomerulonephritis" RELATED [ICD9CM:581.3] +synonym: "nephrotic syndrome with lesion of minimal change nephrotic syndrome" RELATED [] synonym: "nil disease" EXACT [NCIT:C34844] xref: DOID:10966 {source="EFO:1001020", source="MONDO:equivalentTo"} xref: EFO:1001020 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -135781,7 +135791,7 @@ synonym: "cerebritis, Listeria" RELATED [MESH:D008584] synonym: "Listeria Cerebritides" RELATED [MESH:D008584] synonym: "Listeria cerebritis" RELATED [MESH:D008584] synonym: "Listeria Meningitides" RELATED [MESH:D008584] -synonym: "Listeria meningitis" EXACT [MESH:D008584] +synonym: "Listeria meningitis" EXACT [DOID:11572, MESH:D008584] synonym: "Listeria Meningoencephalitides" RELATED [MESH:D008584] synonym: "Listeria meningoencephalitis" RELATED [MESH:D008584] synonym: "Listeria monocytogenes caused infectious meningitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -135864,7 +135874,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Lutembacher syndrome" EXACT [DOID:1998] synonym: "Lutembacher's anomaly" EXACT [DOID:1998] -synonym: "Lutembacher's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MESH:D008185, MONDO:LexicalVariant] +synonym: "Lutembacher's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:1998, MESH:D008185, MONDO:LexicalVariant] synonym: "Lutembachers syndrome" RELATED [MESH:D008185] synonym: "syndrome, Lutembacher" RELATED [MESH:D008185] synonym: "syndrome, Lutembacher's" RELATED [MESH:D008185] @@ -135934,7 +135944,7 @@ id: MONDO:0006843 name: macular holes def: "A hole in the macula of the retina." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "macular hole" EXACT [DOID:7633] +synonym: "macular hole" EXACT [DOID:7633, NCIT:C34795] xref: DOID:7633 {source="MONDO:equivalentTo", source="EFO:1001028"} xref: EFO:1001028 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:6176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -136024,7 +136034,7 @@ name: marasmus def: "The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses." [EFO:1001033] subset: otar {source="MONDO:OTAR"} synonym: "nutritional atrophy" EXACT [DOID:12328] -synonym: "nutritional marasmus" EXACT [DOID:12328, ICD9CM:261] +synonym: "nutritional marasmus" EXACT [DOID:12328, ICD10CM:E41, ICD9CM:261] xref: DOID:12328 {source="EFO:1001033", source="MONDO:equivalentTo"} xref: EFO:1001033 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E41 {source="DOID:12328", source="EFO:1001033", source="MONDO:equivalentTo"} @@ -136044,7 +136054,7 @@ id: MONDO:0006849 name: mastitis def: "Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men." [https://www.nhs.uk/conditions/mastitis/, NCIT:P378, Wikipedia:Mastitis#Types] subset: otar {source="MONDO:OTAR"} -synonym: "breast infection" EXACT [NCIT:C53662] +synonym: "breast infection" EXACT [] synonym: "breast inflammation" EXACT [DOID:10690, MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of breast" EXACT [] synonym: "inflammatory breast disease" EXACT [DOID:10690] @@ -136077,28 +136087,28 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "maxillary antrum neoplasm" EXACT [NCIT:C3219] -synonym: "maxillary antrum tumor" EXACT [NCIT:C3219] +synonym: "maxillary antrum neoplasm" EXACT [] +synonym: "maxillary antrum tumor" EXACT [] synonym: "maxillary antrum tumour" EXACT OMO:0003005 [] synonym: "maxillary sinus neoplasm" EXACT [NCIT:C3219] synonym: "maxillary sinus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "maxillary sinus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3219] synonym: "maxillary sinus tumour" EXACT OMO:0003005 [] -synonym: "maxillofacial sinus neoplasm" EXACT [NCIT:C3219] -synonym: "maxillofacial sinus tumor" EXACT [NCIT:C3219] +synonym: "maxillofacial sinus neoplasm" EXACT [] +synonym: "maxillofacial sinus tumor" EXACT [] synonym: "maxillofacial sinus tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of maxillary antrum" EXACT [NCIT:C3219] -synonym: "neoplasm of maxillary sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C3219] -synonym: "neoplasm of maxillofacial sinus" EXACT [NCIT:C3219] -synonym: "neoplasm of the maxillary antrum" EXACT [NCIT:C3219] +synonym: "neoplasm of maxillary antrum" EXACT [] +synonym: "neoplasm of maxillary sinus" EXACT [DOID:1358, MONDO:patterns/neoplasm, NCIT:C3219] +synonym: "neoplasm of maxillofacial sinus" EXACT [] +synonym: "neoplasm of the maxillary antrum" EXACT [] synonym: "neoplasm of the maxillary sinus" EXACT [NCIT:C3219] -synonym: "neoplasm of the maxillofacial sinus" EXACT [NCIT:C3219] -synonym: "tumor of maxillary antrum" EXACT [NCIT:C3219] +synonym: "neoplasm of the maxillofacial sinus" EXACT [] +synonym: "tumor of maxillary antrum" EXACT [] synonym: "tumor of maxillary sinus" EXACT [MONDO:patterns/neoplasm, NCIT:C3219] -synonym: "tumor of maxillofacial sinus" EXACT [DOID:1358, NCIT:C3219] -synonym: "tumor of the maxillary antrum" EXACT [NCIT:C3219] +synonym: "tumor of maxillofacial sinus" EXACT [DOID:1358] +synonym: "tumor of the maxillary antrum" EXACT [] synonym: "tumor of the maxillary sinus" EXACT [NCIT:C3219] -synonym: "tumor of the maxillofacial sinus" EXACT [NCIT:C3219] +synonym: "tumor of the maxillofacial sinus" EXACT [] synonym: "tumour of maxillary antrum" EXACT OMO:0003005 [] synonym: "tumour of maxillary sinus" EXACT OMO:0003005 [] synonym: "tumour of maxillofacial sinus" EXACT OMO:0003005 [] @@ -136131,9 +136141,9 @@ synonym: "aspiration syndrome, meconium" RELATED [MESH:D008471] synonym: "aspiration, meconium" RELATED [MESH:D008471] synonym: "MAS" EXACT ABBREVIATION [NCIT:C87093] synonym: "meconium aspiration" EXACT [DOID:11049, MESH:D008471] -synonym: "meconium aspiration syndrome" EXACT [NCIT:C87093] +synonym: "meconium aspiration syndrome" EXACT [DOID:11049, icd11.foundation:872221482, NCIT:C87093, Orphanet:70588] synonym: "meconium inhalation" RELATED [MESH:D008471] -synonym: "neonatal aspiration of meconium" EXACT [DOID:11049, NCIT:C87093] +synonym: "neonatal aspiration of meconium" EXACT [DOID:11049, icd11.foundation:872221482, NCIT:C87093] synonym: "syndrome, meconium aspiration" RELATED [MESH:D008471] xref: DOID:11049 {source="EFO:1001037", source="MONDO:equivalentTo"} xref: EFO:1001037 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -136172,7 +136182,7 @@ def: "A morphologic variant of chondrosarcoma arising from bone and soft tissue. subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mesenchymal chondrosarcoma" EXACT [NCIT:C3737] +synonym: "mesenchymal chondrosarcoma" EXACT [DOID:4545, NCIT:C3737] xref: DOID:4545 {source="EFO:1001041", source="MONDO:equivalentTo"} xref: EFO:1001041 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:9240/3 {source="NCIT:C3737"} @@ -136192,7 +136202,7 @@ id: MONDO:0006854 name: mesenchymoma def: "A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." [NCIT:C3233] subset: otar {source="MONDO:OTAR"} -synonym: "mesenchymoma" EXACT [NCIT:C3233] +synonym: "mesenchymoma" EXACT [DOID:2668, NCIT:C3233] xref: DOID:2668 {source="EFO:1001042", source="MONDO:equivalentTo"} xref: EFO:1001042 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICDO:8990/1 {source="NCIT:C3233"} @@ -136258,7 +136268,7 @@ subset: rare_grouping synonym: "disease of mouth" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of mouth" EXACT [] synonym: "disorder of mouth" EXACT [MONDO:patterns/location_top] -synonym: "mouth disease" EXACT [MONDO:patterns/location] +synonym: "mouth disease" EXACT [DOID:403, MONDO:patterns/location] synonym: "mouth disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "oral disease" EXACT [NCIT:C3240] synonym: "oral disorder" EXACT [NCIT:C3240] @@ -136319,12 +136329,12 @@ subset: ordo_disorder {source="Orphanet:86850"} subset: orphanet_rare {source="Orphanet:86850"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chloroma" EXACT [DOID:8683, NCIT:C3520, Orphanet:86850] +synonym: "chloroma" EXACT [DOID:8683, ICD10CM:C92.3, icd11.foundation:1988933820, NCIT:C3520, Orphanet:86850] synonym: "extramedullary myeloid tumor" EXACT [DOID:8683, NCIT:C3520, Orphanet:86850] synonym: "extramedullary myeloid tumour" EXACT OMO:0003005 [] -synonym: "granulocytic sarcoma" RELATED [DOID:8683, NCIT:C35815, Orphanet:86850] +synonym: "granulocytic sarcoma" RELATED [] synonym: "MS" RELATED ABBREVIATION [ONCOTREE:MS] -synonym: "myeloid sarcoma" EXACT [MONDO:0019459, NCIT:C3520] +synonym: "myeloid sarcoma" EXACT [DOID:8683, ICD10CM:C92.3, icd11.foundation:1988933820, MONDO:0019459, NCIT:C3520, Orphanet:86850] synonym: "sarcoma, myeloid, malignant" EXACT [NCIT:C3520] xref: DOID:8683 {source="EFO:1001052", source="MONDO:equivalentTo"} xref: EFO:1001052 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -136377,8 +136387,8 @@ def: "An infiltrating malignant soft tissue neoplasm characterized by the presen subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "myxosarcoma" EXACT [NCIT:C3255] -synonym: "myxosarcoma (morphologic abnormality)" EXACT [DOID:4136] +synonym: "myxosarcoma" EXACT [DOID:4136, NCIT:C3255] +synonym: "myxosarcoma (morphologic abnormality)" EXACT [] synonym: "myxosarcoma, malignant" EXACT [NCIT:C3255] xref: DOID:4136 {source="EFO:1001056", source="MONDO:equivalentTo"} xref: EFO:1001056 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -136413,9 +136423,9 @@ def: "A bacterial infectious process affecting the gums. It is characterized by subset: otar {source="MONDO:OTAR"} synonym: "acute membranous gingivitis" RELATED [GARD:0005736] synonym: "acute necrotising ulcerative gingivitis" EXACT [DOID:13924] -synonym: "acute necrotising ulcerative gingivitis [ambiguous]" EXACT [DOID:13924] +synonym: "acute necrotising ulcerative gingivitis [ambiguous]" EXACT [] synonym: "acute necrotising ulcerative gingivostomatitis" EXACT [DOID:13924] -synonym: "acute necrotising ulcerative gingivostomatitis [ambiguous]" EXACT [DOID:13924] +synonym: "acute necrotising ulcerative gingivostomatitis [ambiguous]" EXACT [] synonym: "acute necrotizing ulcerative gingivitis" EXACT [DOID:13924] synonym: "acute necrotizing ulcerative gingivostomatitis" EXACT [DOID:13924] synonym: "acute ulceromembranous gingivitis" EXACT [DOID:13924] @@ -136426,10 +136436,10 @@ synonym: "Fusospirillary gingivitis" RELATED [GARD:0005736] synonym: "Fusospirillosis" RELATED [GARD:0005736] synonym: "phagedenic gingivitis" RELATED [GARD:0005736] synonym: "trench mouth" EXACT [DOID:13924] -synonym: "Vincent angina" EXACT [DOID:13924] +synonym: "Vincent angina" EXACT [DOID:13924, NCIT:C34637] synonym: "Vincent's angina" EXACT [DOID:13924, ICD9CM:101, NCIT:C34637, SCTID:399050001] synonym: "Vincent's angina - pharyngitis" EXACT [DOID:13924] -synonym: "Vincent's angina NOS" RELATED EXCLUDE [DOID:13924] +synonym: "Vincent's angina NOS" RELATED EXCLUDE [] synonym: "Vincent's disease" EXACT [DOID:13924] synonym: "Vincent's gingivitis" RELATED [GARD:0005736] synonym: "Vincent's infection" RELATED [GARD:0005736] @@ -136468,7 +136478,7 @@ name: neonatal myasthenia gravis def: "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" [MESH:D020941] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "neonatal myasthenia gravis" EXACT [DOID:14043, ICD9CM:775.2, MTH:NOCODE] +synonym: "neonatal myasthenia gravis" EXACT [DOID:14043, icd11.foundation:1274860004, ICD9CM:775.2, MTH:NOCODE] xref: DOID:14043 {source="EFO:1001059", source="MONDO:equivalentTo"} xref: icd11.foundation:1274860004 {source="MONDO:equivalentTo"} xref: ICD9:775.2 {source="DOID:14043", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -136505,9 +136515,9 @@ name: nodular goiter def: "Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones." [NCIT:C131437] subset: otar {source="MONDO:OTAR"} synonym: "goiter, nodular" EXACT [DOID:13197, MTH:494, MTH:733] -synonym: "nodular goiter" EXACT [DOID:13197, MONDO:ambiguous] +synonym: "nodular goiter" EXACT [DOID:13197, MONDO:ambiguous, NCIT:C131437] synonym: "nodular goiter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "nodular goiter NOS" RELATED EXCLUDE [DOID:13197] +synonym: "nodular goiter NOS" RELATED EXCLUDE [] synonym: "nodular goitre (disease)" EXACT OMO:0003005 [] synonym: "nodular goitre NOS" RELATED OMO:0003005 [] xref: DOID:13197 {source="MONDO:equivalentTo", source="EFO:1001062"} @@ -136550,9 +136560,9 @@ name: obsolete nut allergic reaction def: "OBSOLETE. Allergic reaction to tree nuts that is triggered by the immune system." [MESH:D021184] synonym: "022 tree nuts (tn) (ccpr) allergic disease" EXACT [] synonym: "allergy of 022 tree nuts (tn) (ccpr)" EXACT [MONDO:patterns/allergy] -synonym: "allergy to nuts" EXACT [DOID:4379] -synonym: "nut allergic reaction" EXACT [DOID:4379] -synonym: "nut allergy" RELATED [DOID:4379] +synonym: "allergy to nuts" EXACT [] +synonym: "nut allergic reaction" EXACT [] +synonym: "nut allergy" RELATED [] xref: DOID:4379 {source="EFO:1001066", source="MONDO:obsoleteEquivalent"} xref: MESH:D021184 {source="EFO:1001066", source="MONDO:obsoleteEquivalent", source="DOID:4379"} xref: SCTID:395654004 {source="DOID:4379"} @@ -136566,8 +136576,8 @@ id: MONDO:0006873 name: nutritional deficiency disease def: "A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)" [MESH:D003677] subset: otar {source="MONDO:OTAR"} -synonym: "malnourished" EXACT [NCIT:C3669] -synonym: "malnutrition" EXACT [] +synonym: "malnourished" EXACT [] +synonym: "malnutrition" EXACT [ICD10CM:E40-E46, NCIT:C3669] xref: DOID:5113 {source="EFO:1001067", source="MONDO:equivalentTo"} xref: EFO:1001067 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E40-E46 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -136588,10 +136598,10 @@ id: MONDO:0006874 name: obstructive jaundice def: "A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "cholestatic jaundice" EXACT [DOID:13603, NCIT:C34742] +synonym: "cholestatic jaundice" EXACT [DOID:13603] synonym: "cholestatic jaundice syndrome" EXACT [DOID:13603] synonym: "obstructive hyperbilirubinemia" EXACT [DOID:13603, MTH:U000257] -synonym: "obstructive jaundice NOS" RELATED EXCLUDE [DOID:13603] +synonym: "obstructive jaundice NOS" RELATED EXCLUDE [] xref: DOID:13603 {source="EFO:1001068", source="MONDO:equivalentTo"} xref: EFO:1001068 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MedDRA:10029982 {source="EFO:1001068"} @@ -136736,14 +136746,14 @@ synonym: "optic disk inflammation" EXACT [MONDO:patterns/inflammatory_disease_by synonym: "optic nerve papillitis" EXACT [MESH:D010211] synonym: "optic papilla edema" EXACT [MESH:D010211] synonym: "optic papilla oedema" EXACT OMO:0003005 [] -synonym: "optic papillitis" EXACT [MESH:D010211] +synonym: "optic papillitis" EXACT [DOID:10175, MESH:D010211] synonym: "papilledema" EXACT [MONDO:0002003] synonym: "papilledema associated with decreased intraocular pressure" EXACT [MESH:D010211] synonym: "papilledema associated with increased intracranial pressure" EXACT [MESH:D010211] synonym: "papillitis" EXACT [DOID:10175, MESH:D010211] synonym: "papillitis, optic" EXACT [MESH:D010211] synonym: "papillitis, optic nerve" EXACT [MESH:D010211] -synonym: "papilloedema" EXACT [NCIT:C3307] +synonym: "papilloedema" EXACT [] synonym: "retinal edema" RELATED [MESH:D010211] synonym: "retinal Edemas" RELATED [MESH:D010211] synonym: "retinal oedema" RELATED OMO:0003005 [] @@ -136805,7 +136815,7 @@ id: MONDO:0006881 name: orbital cellulitis def: "Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "orbital cellulitis" EXACT [DOID:11234] +synonym: "orbital cellulitis" EXACT [DOID:11234, icd11.foundation:1330743591, NCIT:C99000] xref: DOID:11234 {source="EFO:1001076", source="MONDO:equivalentTo"} xref: EFO:1001076 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H05.01 {source="DOID:11234"} @@ -136826,8 +136836,8 @@ name: orchitis def: "Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "Inflammation of testis" EXACT [DOID:2518] -synonym: "inflammation of testis" EXACT [] -synonym: "orchitis" EXACT [MONDO:ambiguous] +synonym: "inflammation of testis" EXACT [DOID:2518] +synonym: "orchitis" EXACT [DOID:2518, ICD10CM:N45.2, MONDO:ambiguous, NCIT:C97145] synonym: "orchitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Orchititis" EXACT [DOID:2518] synonym: "testis inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] @@ -136869,19 +136879,19 @@ synonym: "malignant Superior sulcus neoplasm of the lung" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus tumor" EXACT [DOID:8007, NCIT:C7527] synonym: "malignant Superior sulcus tumor of lung" EXACT [NCIT:C7527] synonym: "malignant Superior sulcus tumor of the lung" EXACT [NCIT:C7527] -synonym: "malignant Superior sulcus tumour" EXACT OMO:0003005 [] +synonym: "malignant Superior sulcus tumour" EXACT OMO:0003005 [DOID:8007] synonym: "malignant Superior sulcus tumour of lung" EXACT OMO:0003005 [] synonym: "malignant Superior sulcus tumour of the lung" EXACT OMO:0003005 [] -synonym: "Pancoast tumor" EXACT [NCIT:C7527] -synonym: "Pancoast tumour" EXACT OMO:0003005 [] -synonym: "Pancoast's syndrome" RELATED [DOID:8007] -synonym: "Pancoast's tumor" EXACT [DOID:8007, NCIT:C7527] -synonym: "Pancoast's tumour" EXACT OMO:0003005 [] +synonym: "Pancoast tumor" EXACT [DOID:8007, NCIT:C7527] +synonym: "Pancoast tumour" EXACT OMO:0003005 [DOID:8007] +synonym: "Pancoast's syndrome" RELATED [] +synonym: "Pancoast's tumor" EXACT [NCIT:C7527] +synonym: "Pancoast's tumour" EXACT OMO:0003005 [DOID:8007] synonym: "pulmonary sulcus neoplasm, malignant" EXACT [MONDO:patterns/malignant] -synonym: "pulmonary sulcus tumor" RELATED EXCLUDE [DOID:8007] +synonym: "pulmonary sulcus tumor" RELATED EXCLUDE [] synonym: "pulmonary sulcus tumour" RELATED OMO:0003005 [] synonym: "superior pulmonary sulcus syndrome" EXACT [DOID:8007] -synonym: "superior pulmonary sulcus syndrome (disorder) [ambiguous]" RELATED [DOID:8007] +synonym: "superior pulmonary sulcus syndrome (disorder) [ambiguous]" RELATED [] synonym: "superior sulcus tumor" RELATED [] synonym: "superior sulcus tumour" RELATED OMO:0003005 [] xref: DOID:8007 {source="MONDO:equivalentTo", source="EFO:1001080"} @@ -136937,7 +136947,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "papillary and follicular adenocarcinoma" EXACT [NCIT:C7380] synonym: "papillary and follicular carcinoma" EXACT [NCIT:C7380] -synonym: "papillary follicular thyroid adenocarcinoma" RELATED [DOID:3968] +synonym: "papillary follicular thyroid adenocarcinoma" RELATED [] synonym: "thyroid gland papillary and follicular carcinoma" EXACT [NCIT:C7380] xref: DOID:3968 {source="MONDO:equivalentObsolete", source="EFO:1001083"} xref: EFO:1001083 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -136979,7 +136989,7 @@ name: paraneoplastic polyneuropathy def: "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." [NCIT:C3981] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "paraneoplastic polyneuropathy" EXACT [NCIT:C3981] +synonym: "paraneoplastic polyneuropathy" EXACT [DOID:8681, NCIT:C3981] xref: DOID:8681 {source="EFO:1001085", source="MONDO:equivalentTo"} xref: ICD9:357.3 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:8681"} xref: MedDRA:10062289 {source="EFO:1001085"} @@ -137017,12 +137027,12 @@ id: MONDO:0006890 name: parathyroid gland adenoma def: "A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent." [NCIT:C3916] subset: otar {source="MONDO:OTAR"} -synonym: "adenoma of parathyroid" EXACT [DOID:7608, NCIT:C3916] -synonym: "adenoma of parathyroid gland" EXACT [NCIT:C3916] -synonym: "adenoma of the parathyroid" EXACT [NCIT:C3916] -synonym: "adenoma of the parathyroid gland" EXACT [DOID:7608, NCIT:C3916] -synonym: "parathyroid adenoma" EXACT [MONDO:ambiguous, NCIT:C3916] -synonym: "parathyroid gland adenoma" EXACT [MONDO:patterns/location, NCIT:C3916] +synonym: "adenoma of parathyroid" EXACT [] +synonym: "adenoma of parathyroid gland" EXACT [] +synonym: "adenoma of the parathyroid" EXACT [] +synonym: "adenoma of the parathyroid gland" EXACT [DOID:7608] +synonym: "parathyroid adenoma" EXACT [DOID:7608, MONDO:ambiguous] +synonym: "parathyroid gland adenoma" EXACT [MONDO:patterns/location, NCIT:C156757] xref: DOID:7608 {source="EFO:1001087", source="MONDO:equivalentTo"} xref: EFO:1001087 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0002897 {source="MONDO:otherHierarchy"} @@ -137046,9 +137056,9 @@ name: partial motor epilepsy def: "A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "epilepsy, focal motor" EXACT [DOID:3327] -synonym: "epilepsy, focal motor NOS" RELATED EXCLUDE [DOID:3327] +synonym: "epilepsy, focal motor NOS" RELATED EXCLUDE [] synonym: "focal motor seizure" EXACT [DOID:3327] -synonym: "focal motor seizure, NOS" RELATED EXCLUDE [DOID:3327] +synonym: "focal motor seizure, NOS" RELATED EXCLUDE [] xref: DOID:3327 {source="EFO:1001089", source="MONDO:equivalentTo"} xref: EFO:1001089 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:780.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -137117,7 +137127,7 @@ id: MONDO:0006895 name: penile neoplasm def: "A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma." [NCIT:C3317] subset: otar {source="MONDO:OTAR"} -synonym: "neoplasm of penis" EXACT [MONDO:patterns/neoplasm, NCIT:C3317] +synonym: "neoplasm of penis" EXACT [DOID:11624, MONDO:patterns/neoplasm, NCIT:C3317] synonym: "neoplasm of the penis" EXACT [NCIT:C3317] synonym: "penile neoplasm" EXACT [NCIT:C3317] synonym: "penile neoplasms" EXACT [NCIT:C3317] @@ -137278,8 +137288,8 @@ id: MONDO:0006903 name: peroneal nerve paralysis def: "Paralysis of the nerves located in the legs." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "nerve palsy, peroneal" EXACT [NCIT:C27061] -synonym: "palsy, peroneal nerve" EXACT [NCIT:C27061] +synonym: "nerve palsy, peroneal" EXACT [] +synonym: "palsy, peroneal nerve" EXACT [] synonym: "peroneal nerve palsy" EXACT [DOID:6925] xref: DOID:6925 {source="MONDO:equivalentTo", source="EFO:1001102"} xref: EFO:1001102 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -137346,7 +137356,7 @@ def: "A benign, small, papular or nodular skin neoplasm that usually arises abov synonym: "acanthoma of Pilar sheath" EXACT [NCIT:C4468] synonym: "acanthoma of the Pilar sheath" EXACT [NCIT:C4468] synonym: "Infundibuloisthmicoma" EXACT [NCIT:C4468] -synonym: "Pilar sheath acanthoma" EXACT [DOID:4322, NCIT:C4468] +synonym: "Pilar sheath acanthoma" EXACT [DOID:4322, icd11.foundation:281473034, NCIT:C4468] xref: DOID:4322 {source="MONDO:equivalentTo", source="EFO:1001107"} xref: icd11.foundation:281473034 {source="MONDO:equivalentTo"} xref: MEDGEN:83398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -137559,7 +137569,7 @@ name: prediabetes syndrome def: "A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "borderline diabetes" EXACT [NCIT:C122685] -synonym: "prediabetes" EXACT [DOID:11716] +synonym: "prediabetes" EXACT [DOID:11716, NCIT:C122685] synonym: "prediabetic state" EXACT [DOID:11716] xref: DOID:11716 {source="EFO:1001121", source="MONDO:equivalentTo"} xref: EFO:1001121 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -137765,7 +137775,7 @@ id: MONDO:0006930 name: pseudobulbar palsy def: "A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes." [NCIT:C129934] subset: otar {source="MONDO:OTAR"} -synonym: "pseudobulbar palsy" EXACT [DOID:12680, ICD9CM:335.23] +synonym: "pseudobulbar palsy" EXACT [DOID:12680, ICD9CM:335.23, NCIT:C129934] synonym: "pseudobulbar paralysis" EXACT [DOID:12680] xref: DOID:12680 {source="EFO:1001131", source="MONDO:equivalentTo"} xref: EFO:1001131 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -137785,8 +137795,8 @@ name: pulmonary coin lesion def: "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura." [MESH:D003074] synonym: "coin lesion lung" EXACT [DOID:5364] synonym: "coin lesion of lung" EXACT [DOID:5364] -synonym: "coin lesion of lung (context-dependent category)" EXACT [DOID:5364] -synonym: "coin lesion of lung (finding)" EXACT [DOID:5364] +synonym: "coin lesion of lung (context-dependent category)" EXACT [] +synonym: "coin lesion of lung (finding)" EXACT [] xref: DOID:5364 {source="EFO:1001133", source="MONDO:equivalentTo"} xref: ICD10CM:R91.1 {source="DOID:5364"} xref: MEDGEN:3522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -137804,7 +137814,7 @@ id: MONDO:0006932 name: pulmonary edema def: "Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure)." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "edema, pulmonary" EXACT [NCIT:C26868] +synonym: "edema, pulmonary" EXACT [] xref: DOID:11396 {source="EFO:1001134", source="MONDO:equivalentTo"} xref: EFO:1001134 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:J81 {source="MONDO:equivalentTo", source="DOID:11396"} @@ -137954,7 +137964,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lesion of radial nerve" EXACT [DOID:12170, ICD9CM:354.3] -synonym: "lesion of radial nerve, NOS" RELATED EXCLUDE [DOID:12170] +synonym: "lesion of radial nerve, NOS" RELATED EXCLUDE [] synonym: "peripheral nerve lesion of radial nerve" EXACT [MONDO:design_pattern] synonym: "radial nerve lesions" EXACT [DOID:12170] synonym: "radial nerve peripheral nerve lesion" EXACT [MONDO:design_pattern, MONDO:patterns/location] @@ -138055,7 +138065,7 @@ subset: rare synonym: "Osteodystrophies, renal" RELATED [MESH:D012080] synonym: "osteodystrophy, renal" RELATED [MESH:D012080] synonym: "renal Osteodystrophies" RELATED [MESH:D012080] -synonym: "renal rickets" EXACT [DOID:13068, MESH:D012080] +synonym: "renal rickets" EXACT [DOID:13068, ICD10CM:N25.0, MESH:D012080] synonym: "rickets, renal" RELATED [MESH:D012080] xref: DOID:13068 {source="EFO:1001152", source="MONDO:equivalentTo"} xref: EFO:1001152 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -138080,7 +138090,7 @@ id: MONDO:0006947 name: renovascular hypertension def: "High blood pressure secondary to renal artery stenosis." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "renovascular hypertension" EXACT [MONDO:ambiguous] +synonym: "renovascular hypertension" EXACT [DOID:1591, ICD10CM:I15.0, MONDO:ambiguous] synonym: "renovascular hypertension (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:1591 {source="EFO:1001153", source="MONDO:equivalentTo"} xref: EFO:1001153 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -138138,7 +138148,7 @@ def: "Inflammation of the retinal vasculature with various causes including infe subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "retinal vasculitis" EXACT [DOID:11563, ICD9CM:362.18] +synonym: "retinal vasculitis" EXACT [DOID:11563, icd11.foundation:1863208483, ICD9CM:362.18] xref: DOID:11563 {source="EFO:1001156", source="MONDO:equivalentTo"} xref: EFO:1001156 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H35.06 {source="DOID:11563"} @@ -138161,7 +138171,7 @@ name: retinal vein occlusion def: "An occlusion of the retinal vein." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "occlusion, of retinal vein" EXACT [DOID:1727] -synonym: "retinal vein occlusion" EXACT [DOID:1727] +synonym: "retinal vein occlusion" EXACT [DOID:1727, NCIT:C34981] xref: DOID:1727 {source="MONDO:equivalentTo", source="EFO:1001157"} xref: EFO:1001157 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MedDRA:10038907 {source="EFO:1001157"} @@ -138184,9 +138194,9 @@ subset: orphanet_rare {source="Orphanet:90050"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "premature retinopathy" EXACT [DOID:13025] -synonym: "retrolental fibroplasia" EXACT [DOID:13025, ICD9CM:362.21, Orphanet:90050] -synonym: "ROP" EXACT ABBREVIATION [OMIM:133780, Orphanet:90050] -synonym: "Terry syndrome" EXACT [NCIT:C34982] +synonym: "retrolental fibroplasia" EXACT [DOID:13025, icd11.foundation:947283385, ICD9CM:362.21, NCIT:C34982, Orphanet:90050] +synonym: "ROP" EXACT ABBREVIATION [Orphanet:90050] +synonym: "Terry syndrome" EXACT [icd11.foundation:947283385, NCIT:C34982] xref: DOID:13025 {source="EFO:1001158", source="MONDO:equivalentTo"} xref: EFO:1001158 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5695 {source="MONDO:GARD"} @@ -138243,8 +138253,8 @@ id: MONDO:0006955 name: rheumatic heart disease def: "An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction." [NCIT:C34882] subset: otar {source="MONDO:OTAR"} -synonym: "disease, rheumatic heart" EXACT [NCIT:C34882] -synonym: "heart disease, rheumatic" EXACT [NCIT:C34882] +synonym: "disease, rheumatic heart" EXACT [] +synonym: "heart disease, rheumatic" EXACT [] synonym: "RHD" EXACT ABBREVIATION [NCIT:C34882] synonym: "rheumatic carditis" EXACT [DOID:0050827] xref: DOID:0050827 {source="MONDO:equivalentTo"} @@ -138279,7 +138289,7 @@ synonym: "Rickettsia disease or disorder" EXACT [] synonym: "Rickettsia infection" EXACT [MESH:D012282] synonym: "Rickettsia infectious disease" EXACT [] synonym: "Rickettsiae disease" EXACT [Orphanet:102021] -synonym: "Rickettsial disease" EXACT [MONDO:0015154] +synonym: "Rickettsial disease" EXACT [MONDO:0015154, Orphanet:102021] synonym: "Rickettsial infectious disease" EXACT [NCIT:C34991] synonym: "Rickettsial infectious disorder" EXACT [NCIT:C34991] synonym: "Rickettsiosis" EXACT [NCIT:C34991] @@ -138374,16 +138384,16 @@ name: sebaceous adenocarcinoma def: "An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize." [NCIT:C40310] comment: We follow NCIT and treat sebaceous carcinoma and sebaceous adenocarcinoma as equivalent. subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma of the sebaceous gland" EXACT [DOID:4839, NCIT:C3767] +synonym: "adenocarcinoma of the sebaceous gland" EXACT [DOID:4839] synonym: "adenocarcinoma, sebaceous, malignant" EXACT [NCIT:C40310] synonym: "carcinoma of sebaceous gland" EXACT [NCIT:C40310] synonym: "carcinoma of the sebaceous gland" EXACT [NCIT:C40310] -synonym: "malignant neoplasm of sebaceous gland" RELATED EXCLUDE [DOID:4840] -synonym: "malignant sebaceous tumor" NARROW [DOID:4840, NCIT:C8409] +synonym: "malignant neoplasm of sebaceous gland" RELATED EXCLUDE [] +synonym: "malignant sebaceous tumor" NARROW [] synonym: "malignant sebaceous tumour" NARROW OMO:0003005 [] synonym: "Seba" RELATED [ONCOTREE:SEBA] synonym: "sebaceous cancer" EXACT [NCIT:C40310] -synonym: "sebaceous carcinoma" EXACT [DOID:4839, MONDO:0003160, NCIT:C40310] +synonym: "sebaceous carcinoma" EXACT [DOID:4839, DOID:4840, MONDO:0003160, NCIT:C40310] synonym: "sebaceous gland adenocarcinoma" EXACT [MONDO:patterns/location] synonym: "sebaceous gland carcinoma" EXACT [NCIT:C40310] xref: DOID:4839 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:1001171"} @@ -138414,7 +138424,7 @@ name: sebaceous gland neoplasm def: "A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma." [NCIT:C3363] subset: otar {source="MONDO:OTAR"} synonym: "neoplasm of sebaceous gland" EXACT [MONDO:patterns/neoplasm] -synonym: "sebaceous gland neoplasm" EXACT [NCIT:C3363] +synonym: "sebaceous gland neoplasm" EXACT [DOID:5759, NCIT:C3363] synonym: "sebaceous gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sebaceous gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3363] synonym: "sebaceous gland tumour" EXACT OMO:0003005 [] @@ -138443,9 +138453,9 @@ id: MONDO:0006964 name: secondary hyperparathyroidism def: "Overproduction of parathyroid hormone in response to influence external to the parathyroid glands." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "secondary hyperparathyroidism" EXACT [MONDO:ambiguous] +synonym: "secondary hyperparathyroidism" EXACT [DOID:12466, icd11.foundation:1442752937, MONDO:ambiguous, NCIT:C113335] synonym: "secondary hyperparathyroidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "secondary hyperparathyroidism NOS" NARROW [DOID:12466] +synonym: "secondary hyperparathyroidism NOS" NARROW [] xref: DOID:12466 {source="EFO:1001173", source="MONDO:equivalentTo"} xref: EFO:1001173 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0000867 {source="MONDO:otherHierarchy"} @@ -138469,7 +138479,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "Bamberger-Marie disease" EXACT [DOID:10393] synonym: "HPOA - hypertrophic pulmonary osteoarthropathy" EXACT [DOID:10393] synonym: "hypertrophic pulmonary osteoarthropathy" EXACT [DOID:10393, ICD9CM:731.2] -synonym: "hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]" EXACT [DOID:10393] +synonym: "hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]" EXACT [] synonym: "Marie Bamberger disease" EXACT [DOID:10393] xref: DOID:10393 {source="EFO:1001174", source="MONDO:equivalentTo"} xref: EFO:1001174 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -138491,8 +138501,8 @@ def: "A condition with a clinical picture similar to that of Parkinson disease, subset: otar {source="MONDO:OTAR"} synonym: "disorder presenting primarily with parkinsonism" EXACT [DOID:13548] synonym: "secondary Parkinsonism" EXACT [DOID:13548, ICD9CM:332.1, NCIT:C34899] -synonym: "secondary parkinsonism (disorder) [ambiguous]" EXACT [DOID:13548] -synonym: "secondary parkinsonism, unspecified" EXACT [DOID:13548] +synonym: "secondary parkinsonism (disorder) [ambiguous]" EXACT [] +synonym: "secondary parkinsonism, unspecified" EXACT [] synonym: "symptomatic parkinsonism" EXACT [DOID:13548] xref: DOID:13548 {source="EFO:1001175", source="MONDO:equivalentTo"} xref: EFO:1001175 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -138527,7 +138537,7 @@ name: shoulder impingement syndrome def: "Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)" [MESH:D019534] subset: otar {source="MONDO:OTAR"} synonym: "Impingement syndrome of shoulder region" EXACT [DOID:14276] -synonym: "shoulder impingement syndrome (disorder) [ambiguous]" EXACT [DOID:14276] +synonym: "shoulder impingement syndrome (disorder) [ambiguous]" EXACT [] synonym: "subacromial impingement" EXACT [DOID:14276] xref: DOID:14276 {source="EFO:1001178", source="MONDO:equivalentTo"} xref: EFO:1001178 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -138555,7 +138565,7 @@ synonym: "lymphadenitis (disease) of saliva-secreting gland" EXACT [] synonym: "saliva-secreting gland lymphadenitis (disease)" EXACT [MONDO:patterns/location] synonym: "salivary gland inflammation" RELATED [GARD:0007638] synonym: "sialitis" EXACT [NCIT:C115165] -synonym: "sialoadenitis" EXACT [DOID:10303] +synonym: "sialoadenitis" EXACT [DOID:10303, NCIT:C26882] xref: DOID:10303 {source="MONDO:equivalentTo", source="EFO:1001179"} xref: EFO:1001179 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K11.2 {source="DOID:10303"} @@ -138583,9 +138593,9 @@ id: MONDO:0006970 name: sialolithiasis def: "A concretion in the salivary gland." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "salivary gland Stone" EXACT [DOID:12905, NCIT:C34994] -synonym: "sialolith" EXACT [DOID:12905] -synonym: "Stone of salivary gland or duct" EXACT [DOID:12905] +synonym: "salivary gland Stone" EXACT [DOID:12905] +synonym: "sialolith" EXACT [DOID:12905, icd11.foundation:1984849248] +synonym: "Stone of salivary gland or duct" EXACT [DOID:12905, ICD10CM:K11.5, icd11.foundation:1984849248] xref: DOID:12905 {source="MONDO:equivalentTo", source="EFO:1001180"} xref: EFO:1001180 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K11.5 {source="MONDO:equivalentTo", source="DOID:12905", source="EFO:1001180"} @@ -138608,12 +138618,12 @@ name: sigmoid neoplasm def: "Tumors or cancer of the sigmoid colon." [MESH:D012811] comment: Editor note: NCIT uses rectosigmoid as a region subset: otar {source="MONDO:OTAR"} -synonym: "neoplasm of sigmoid colon" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of sigmoid colon" EXACT [DOID:1896, MONDO:patterns/neoplasm] synonym: "sigmoid colon neoplasm" EXACT [] synonym: "sigmoid colon neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "sigmoid colon tumor" EXACT [MONDO:patterns/neoplasm] synonym: "sigmoid colon tumour" EXACT OMO:0003005 [] -synonym: "tumor of sigmoid colon" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of sigmoid colon" EXACT [DOID:1896, MONDO:patterns/neoplasm] synonym: "tumour of sigmoid colon" EXACT OMO:0003005 [] xref: DOID:1896 {source="MONDO:equivalentTo", source="EFO:1001181"} xref: EFO:1001181 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -138632,8 +138642,8 @@ intersection_of: disease_has_location UBERON:0001159 ! sigmoid colon id: MONDO:0006972 name: silo filler disease def: "A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage." [MESH:D012832] -synonym: "silo filler disease" EXACT [DOID:4374] -synonym: "silo filler's disease" RELATED [DOID:4374] +synonym: "silo filler disease" EXACT [DOID:4374, icd11.foundation:1960063586] +synonym: "silo filler's disease" RELATED [] synonym: "silo-fillers' disease" EXACT [DOID:4374] xref: DOID:4374 {source="MONDO:equivalentTo", source="EFO:1001182"} xref: icd11.foundation:1960063586 {source="MONDO:equivalentTo"} @@ -138678,7 +138688,7 @@ id: MONDO:0006974 name: small cell sarcoma def: "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm." [NCIT:C3746] subset: otar {source="MONDO:OTAR"} -synonym: "small cell sarcoma" EXACT [NCIT:C3746] +synonym: "small cell sarcoma" EXACT [DOID:3098, NCIT:C3746] synonym: "small cell sarcomas" EXACT [NCIT:C3746] xref: DOID:3098 {source="EFO:1001184", source="MONDO:equivalentTo"} xref: EFO:1001184 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -138699,7 +138709,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "neoplasm of smooth muscle" EXACT [NCIT:C3751] synonym: "neoplasm of the smooth muscle" EXACT [NCIT:C3751] synonym: "smooth muscle neoplasm" EXACT [NCIT:C3751] -synonym: "smooth muscle tumor" EXACT [NCIT:C3751] +synonym: "smooth muscle tumor" EXACT [DOID:4310, NCIT:C3751] synonym: "tumor of smooth muscle" EXACT [NCIT:C3751] synonym: "tumor of the smooth muscle" EXACT [NCIT:C3751] synonym: "tumour of smooth muscle" EXACT OMO:0003005 [] @@ -138735,9 +138745,9 @@ synonym: "Delta cell tumour" EXACT OMO:0003005 [] synonym: "malignant islet cell tumor" RELATED [GARD:0004900] synonym: "malignant islet cell tumour" RELATED OMO:0003005 [] synonym: "Somatomedin-secreting carcinoid" RELATED [GARD:0004900] -synonym: "somatostatin cell neoplasm" EXACT [DOID:4430, NCIT:C3379] -synonym: "somatostatin cell tumor" EXACT [DOID:4430, NCIT:C3379] -synonym: "somatostatin cell tumour" EXACT OMO:0003005 [] +synonym: "somatostatin cell neoplasm" EXACT [DOID:4430] +synonym: "somatostatin cell tumor" EXACT [NCIT:C3379] +synonym: "somatostatin cell tumour" EXACT OMO:0003005 [DOID:4430] synonym: "somatostatin producing tumor" EXACT [NCIT:C3379] synonym: "somatostatin producing tumour" EXACT OMO:0003005 [] synonym: "somatostatin-producing NET" EXACT [NCIT:C3379] @@ -138746,7 +138756,7 @@ synonym: "somatostatin-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "somatostatin-producing tumor" EXACT [NCIT:C3379] synonym: "somatostatin-producing tumour" EXACT OMO:0003005 [] synonym: "somatostatin-secreting pancreatic neoplasm" RELATED [GARD:0004900] -synonym: "somatostatinoma" EXACT [NCIT:C3379] +synonym: "somatostatinoma" EXACT [DOID:4430, icd11.foundation:219879696, NCIT:C3379, Orphanet:97283] synonym: "tumor of Delta cells" EXACT [NCIT:C3379] synonym: "tumor of the Delta cells" EXACT [NCIT:C3379] synonym: "tumour of Delta cells" EXACT OMO:0003005 [] @@ -138845,9 +138855,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "struma ovarii" EXACT [NCIT:C7468] -synonym: "struma ovarii (morphologic abnormality)" EXACT [DOID:2640] -synonym: "struma ovarii NOS (morphologic abnormality)" EXACT [DOID:2640] +synonym: "struma ovarii" EXACT [DOID:2640, icd11.foundation:185581438, NCIT:C7468] +synonym: "struma ovarii (morphologic abnormality)" EXACT [] +synonym: "struma ovarii NOS (morphologic abnormality)" EXACT [] xref: DOID:2640 {source="MONDO:equivalentTo", source="EFO:1001192"} xref: EFO:1001192 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:185581438 {source="MONDO:equivalentTo"} @@ -138870,7 +138880,7 @@ subset: rare synonym: "endocarditis lenta" EXACT [DOID:4562] synonym: "SBE" EXACT ABBREVIATION [NCIT:C34583] synonym: "SBE - Subacute bacterial endocarditis" EXACT [DOID:4562] -synonym: "Subacute bacterial endocarditis" EXACT [DOID:4562] +synonym: "Subacute bacterial endocarditis" EXACT [DOID:4562, icd11.foundation:933942548, NCIT:C34583] synonym: "Subacute endocarditis, lenta" EXACT [DOID:4562] xref: DOID:4562 {source="MONDO:equivalentTo", source="EFO:1001193"} xref: EFO:1001193 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -138893,14 +138903,14 @@ id: MONDO:0006982 name: subacute thyroiditis def: "Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "De Quervain thyroiditis" EXACT [NCIT:C35828] -synonym: "De Quervain's thyroiditis" EXACT [DOID:7165] -synonym: "de Quervain's thyroiditis" EXACT [DOID:7165] +synonym: "De Quervain thyroiditis" EXACT [ICD10CM:E06.1, icd11.foundation:1320394379, NCIT:C35828] +synonym: "De Quervain's thyroiditis" EXACT [DOID:7165, NCIT:C35828] +synonym: "de Quervain's thyroiditis" EXACT [DOID:7165, NCIT:C35828] synonym: "DeQuervain thyroiditis" EXACT [NCIT:C35828] -synonym: "giant-cell thyroiditis" EXACT [DOID:7165] -synonym: "granulomatous thyroiditis" EXACT [DOID:7165] -synonym: "Subacute granulomatous thyroiditis" EXACT [DOID:7165, NCIT:C35828] -synonym: "Subacute thyroiditis" EXACT [DOID:7165, NCIT:C35071] +synonym: "giant-cell thyroiditis" EXACT [DOID:7165, ICD10CM:E06.1, icd11.foundation:1320394379] +synonym: "granulomatous thyroiditis" EXACT [DOID:7165, ICD10CM:E06.1, icd11.foundation:1320394379] +synonym: "Subacute granulomatous thyroiditis" EXACT [DOID:7165, icd11.foundation:1320394379, NCIT:C35828] +synonym: "Subacute thyroiditis" EXACT [DOID:7165, ICD10CM:E06.1, icd11.foundation:1320394379, NCIT:C35071] xref: DOID:7165 {source="MONDO:equivalentTo", source="EFO:1001194"} xref: EFO:1001194 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E06.1 {source="MONDO:equivalentTo", source="DOID:7165"} @@ -138927,7 +138937,7 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0006983 name: subclavian steal syndrome def: "An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention." [NCIT:P378] -synonym: "subclavian artery stenosis" EXACT [DOID:13002] +synonym: "subclavian artery stenosis" EXACT [DOID:13002, icd11.foundation:2123391417] synonym: "subclavian steal phenomenon" EXACT [DOID:13002] synonym: "subclavian steal steno-occlusive disease" EXACT [DOID:13002] xref: DOID:13002 {source="EFO:1001195", source="MONDO:equivalentTo"} @@ -138973,7 +138983,7 @@ id: MONDO:0006986 name: substernal goiter def: "An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms." [MESH:D006045] synonym: "retrosternal thyroid goiter" EXACT [DOID:13200] -synonym: "retrosternal thyroid goitre" EXACT OMO:0003005 [] +synonym: "retrosternal thyroid goitre" EXACT OMO:0003005 [DOID:13200] xref: DOID:13200 {source="EFO:1001198", source="MONDO:equivalentTo"} xref: MEDGEN:9066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D006045 {source="EFO:1001198", source="MONDO:equivalentTo", source="DOID:13200"} @@ -139013,7 +139023,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Sulfemoglobinemia" EXACT [DOID:12451] +synonym: "Sulfemoglobinemia" EXACT [] xref: DOID:12451 {source="EFO:1001200", source="MONDO:equivalentTo"} xref: EFO:1001200 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MedDRA:10042481 {source="EFO:1001200"} @@ -139132,7 +139142,7 @@ name: tethered spinal cord syndrome def: "A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "spinal cord syndrome" EXACT [NCIT:C99080] -synonym: "spinal dysraphism" RELATED EXCLUDE [DOID:1089] +synonym: "spinal dysraphism" RELATED EXCLUDE [] synonym: "tethered cord" EXACT [NCIT:C99080] xref: DOID:1089 {source="EFO:1001210", source="MONDO:equivalentTo"} xref: EFO:1001210 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -139157,10 +139167,10 @@ id: MONDO:0006996 name: thyroid crisis def: "Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "thyroid crisis" EXACT [DOID:12837, MONDO:ambiguous] +synonym: "thyroid crisis" EXACT [DOID:12837, icd11.foundation:1215823328, MONDO:ambiguous] synonym: "thyroid crisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "thyroid storm" EXACT [NCIT:C112836] -synonym: "thyrotoxic crisis" EXACT [DOID:12837] +synonym: "thyroid storm" EXACT [icd11.foundation:1215823328, NCIT:C112836] +synonym: "thyrotoxic crisis" EXACT [DOID:12837, icd11.foundation:1215823328] xref: DOID:12837 {source="MONDO:equivalentTo", source="EFO:1001212"} xref: EFO:1001212 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0011782 {source="MONDO:otherHierarchy"} @@ -139185,7 +139195,7 @@ def: "Disease of the tibial nerve (also referred to as the posterior tibial nerv subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Posterior tibial neuropathy" EXACT [DOID:1187] -synonym: "tibial neuropathy (disorder) [ambiguous]" EXACT [DOID:1187] +synonym: "tibial neuropathy (disorder) [ambiguous]" EXACT [] xref: DOID:1187 {source="EFO:1001213", source="MONDO:equivalentTo"} xref: MEDGEN:148422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D020429 {source="DOID:1187", source="EFO:1001213", source="MONDO:equivalentTo"} @@ -139205,7 +139215,7 @@ synonym: "cancer of tonsil" BROAD [MONDO:patterns/cancer] synonym: "malignant neoplasm of faucial tonsil" EXACT [DOID:8858] synonym: "malignant neoplasm of palatine tonsil" EXACT [DOID:8858] synonym: "malignant neoplasm of the tonsil" EXACT [NCIT:C7404] -synonym: "malignant neoplasm of tonsil" EXACT [MONDO:patterns/cancer, NCIT:C7404] +synonym: "malignant neoplasm of tonsil" EXACT [ICD10CM:C09, MONDO:patterns/cancer, NCIT:C7404] synonym: "malignant neoplasm of tonsil, faucial" EXACT [DOID:8858] synonym: "malignant tonsil neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7404] synonym: "malignant tonsil tumor" EXACT [NCIT:C7404] @@ -139214,10 +139224,10 @@ synonym: "malignant tonsillar neoplasm" EXACT [NCIT:C7404] synonym: "malignant tonsillar tumor" EXACT [DOID:8858, NCIT:C7404] synonym: "malignant tonsillar tumour" EXACT OMO:0003005 [] synonym: "malignant tumor of the tonsil" EXACT [NCIT:C7404] -synonym: "malignant tumor of tonsil" EXACT [NCIT:C7404] +synonym: "malignant tumor of tonsil" EXACT [DOID:8858, NCIT:C7404] synonym: "malignant tumour of the tonsil" EXACT OMO:0003005 [] synonym: "malignant tumour of tonsil" EXACT OMO:0003005 [] -synonym: "tonsil cancer" EXACT [MONDO:patterns/location] +synonym: "tonsil cancer" EXACT [DOID:8858, MONDO:patterns/location] xref: DOID:8858 {source="MONDO:equivalentTo", source="EFO:1001214"} xref: EFO:1001214 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:C09 {source="MONDO:equivalentTo", source="DOID:8858"} @@ -139246,7 +139256,7 @@ def: "A disease involving the calcareous tooth." [https://orcid.org/0000-0002-66 subset: otar {source="MONDO:OTAR"} synonym: "calcareous tooth disease" EXACT [MONDO:patterns/location] synonym: "calcareous tooth disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "dental disorder" EXACT [DOID:1091] +synonym: "dental disorder" EXACT [NCIT:C35077] synonym: "disease of calcareous tooth" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of calcareous tooth" EXACT [] synonym: "disorder of calcareous tooth" EXACT [MONDO:patterns/location_top] @@ -139297,7 +139307,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_morphological_anomaly {source="Orphanet:95458"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "tricuspid valve prolapse" EXACT [MONDO:ambiguous] +synonym: "tricuspid valve prolapse" EXACT [DOID:5644, icd11.foundation:973833808, MONDO:ambiguous] synonym: "tricuspid valve prolapse (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:5644 {source="MONDO:equivalentTo", source="EFO:1001218"} xref: EFO:1001218 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -139323,12 +139333,12 @@ synonym: "disease of trochlear nerve" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of trochlear nerve" EXACT [] synonym: "disorder of trochlear nerve" EXACT [DOID:13864, MONDO:patterns/location_top] synonym: "IVth cranial nerve disorder" EXACT [NCIT:C78395] -synonym: "IVth nerve disorder" EXACT [NCIT:C78395] +synonym: "IVth nerve disorder" EXACT [] synonym: "superior oblique muscle innervation disorder" EXACT [DOID:13864] -synonym: "trochlear nerve disease" EXACT [MONDO:patterns/location] +synonym: "trochlear nerve disease" EXACT [DOID:13864, MONDO:patterns/location] synonym: "trochlear nerve disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "trochlear nerve disorder" EXACT [NCIT:C78395] -synonym: "trochlear nerve disorder, NOS" RELATED EXCLUDE [DOID:13864] +synonym: "trochlear nerve disorder" EXACT [DOID:13864, NCIT:C78395] +synonym: "trochlear nerve disorder, NOS" RELATED EXCLUDE [] xref: DOID:13864 {source="EFO:1001220", source="MONDO:equivalentTo"} xref: ICD10CM:H49.1 {source="DOID:13864"} xref: ICD9:378.53 {source="MONDO:relatedTo", source="DOID:13864"} @@ -139359,7 +139369,7 @@ name: type III hypersensitivity disease def: "Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa." [MESH:D007105] subset: otar {source="MONDO:OTAR"} synonym: "disorder of type III hypersensitivity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] -synonym: "hypersensitivity reaction type III disease" RELATED [DOID:1557] +synonym: "hypersensitivity reaction type III disease" RELATED [] synonym: "immune complex disease" EXACT [DOID:1557] synonym: "type 3 hypersensitivity reaction" EXACT [NCIT:C114346] synonym: "type III hypersensitivity" EXACT [NCIT:C114346] @@ -139400,7 +139410,7 @@ subset: rare synonym: "mononeuropathy of ulnar nerve" EXACT [MONDO:design_pattern] synonym: "ulnar nerve mononeuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "ulnar neuropathy" EXACT [DOID:4613] -synonym: "ulnar neuropathy (disorder) [ambiguous]" EXACT [DOID:4613] +synonym: "ulnar neuropathy (disorder) [ambiguous]" EXACT [] xref: DOID:4613 {source="EFO:1001224", source="MONDO:equivalentTo"} xref: EFO:1001224 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:57596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -139489,7 +139499,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Heerfordt's syndrome" EXACT [DOID:13404] -synonym: "uveoparotid fever" EXACT [DOID:13404] +synonym: "uveoparotid fever" EXACT [DOID:13404, icd11.foundation:2079034902] xref: DOID:13404 {source="EFO:1001232", source="MONDO:equivalentTo"} xref: EFO:1001232 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:D86.89 {source="DOID:13404"} @@ -139511,7 +139521,7 @@ subset: ordo_disorder {source="Orphanet:576370"} subset: orphanet_rare {source="Orphanet:576370"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "vCJD" EXACT [NCIT:C128438] +synonym: "vCJD" EXACT [ICD10CM:A81.01, NCIT:C128438, Orphanet:576370] xref: DOID:5435 {source="EFO:1001233", source="MONDO:equivalentTo"} xref: EFO:1001233 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9550 {source="MONDO:GARD"} @@ -139601,7 +139611,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "deficiencies, vitamin A" RELATED [MESH:D014802] synonym: "deficiency, vitamin A" RELATED [MESH:D014802] synonym: "vitamin A deficiencies" RELATED [MESH:D014802] -synonym: "vitamin A deficiency" EXACT [MONDO:ambiguous, NCIT:C85220] +synonym: "vitamin A deficiency" EXACT [icd11.foundation:435342452, MONDO:ambiguous, NCIT:C85220] synonym: "vitamin A deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10257 {source="EFO:1001237", source="MONDO:obsolete"} xref: EFO:1001237 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -139627,8 +139637,8 @@ def: "Detachment of the vitreous humor from the retina." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "detachment Of vitreous" EXACT [NCIT:C50807] -synonym: "vitreous, detachment Of" EXACT [NCIT:C50807] +synonym: "detachment Of vitreous" EXACT [] +synonym: "vitreous, detachment Of" EXACT [] xref: DOID:9726 {source="MONDO:equivalentTo", source="EFO:1001238"} xref: EFO:1001238 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H43.81 {source="DOID:9726"} @@ -139697,9 +139707,9 @@ intersection_of: disease_has_inflammation_site UBERON:0000997 ! mammalian vulva id: MONDO:0007020 name: Wernicke encephalopathy def: "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)" [MESH:D014899] -synonym: "dementia due to thiamine deficiency" EXACT [Orphanet:97354] +synonym: "dementia due to thiamine deficiency" EXACT [] synonym: "Wernicke's disease" EXACT [DOID:2384] -synonym: "Wernicke's encephalopathy" EXACT [DOID:2384] +synonym: "Wernicke's encephalopathy" EXACT [DOID:2384, ICD10CM:E51.2] xref: DOID:2384 {source="EFO:1001241", source="MONDO:equivalentTo"} xref: ICD10CM:E51.2 {source="DOID:2384", source="MONDO:equivalentTo"} xref: icd11.foundation:1360335041 {source="MONDO:equivalentTo"} @@ -139720,9 +139730,9 @@ name: obsolete wheat allergic disease def: "OBSOLETE. Allergic reaction to wheat that is triggered by the immune system." [EFO:1001243] synonym: "allergic disease from wheat based food product" EXACT [] synonym: "allergy of wheat based food product" EXACT [MONDO:patterns/allergy] -synonym: "allergy to wheat" EXACT [DOID:3660] -synonym: "wheat allergic reaction" RELATED [DOID:3660] -synonym: "wheat allergy" RELATED [DOID:3660] +synonym: "allergy to wheat" EXACT [] +synonym: "wheat allergic reaction" RELATED [] +synonym: "wheat allergy" RELATED [] synonym: "wheat based food product allergic disease" EXACT [MONDO:patterns/environmental_stimulus] xref: DOID:3660 {source="MONDO:obsoleteEquivalent", source="EFO:1001243"} xref: ICD9:995.3 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -139737,7 +139747,7 @@ id: MONDO:0007022 name: xanthogranulomatous pyelonephritis def: "Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "xanthogranulomatous pyelonephritis" EXACT [DOID:11401] +synonym: "xanthogranulomatous pyelonephritis" EXACT [DOID:11401, NCIT:C123038] xref: DOID:11401 {source="EFO:1001244", source="MONDO:equivalentTo"} xref: EFO:1001244 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:582.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -139761,7 +139771,7 @@ synonym: "infections, Yersinia" RELATED [MESH:D015009] synonym: "infections, Yersinia " RELATED [MONDO:patterns/infectious_disease_by_agent] synonym: "Yersinia infection" EXACT [MONDO:patterns/infectious_disease_by_agent] synonym: "Yersinia infection" RELATED [MESH:D015009] -synonym: "yersiniosis" EXACT [] +synonym: "yersiniosis" EXACT [NCIT:C128337] xref: DOID:3300 {source="EFO:1001245", source="MONDO:obsolete"} xref: EFO:1001245 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MESH:D015009 {source="MONDO:equivalentTo", source="EFO:1001245"} @@ -139817,10 +139827,10 @@ id: MONDO:0007027 name: metabolic dysfunction-associated steatohepatitis def: "Metabolic dysfunction-associated steatohepatitis (MASH, formerly known as nonalcoholic steatohepatitis or NASH) is a type of fatty liver disease. It often develops due to a metabolic disorder, such as obesity or diabetes, resulting in a toxic buildup of fat in the liver. It is the most severe form of metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD)." [https://www.verywellhealth.com/non-alcoholic-steatohepatitis-nash-5196357#toc-symptoms] subset: otar {source="MONDO:OTAR"} -synonym: "MASH" EXACT [https://www.verywellhealth.com/non-alcoholic-steatohepatitis-nash-5196357#toc-symptoms] +synonym: "MASH" EXACT ABBREVIATION [DOID:0080547, https://www.verywellhealth.com/non-alcoholic-steatohepatitis-nash-5196357#toc-symptoms] synonym: "NASH - nonalcoholic steatohepatitis" EXACT [NCIT:C84445] synonym: "non-alcoholic steatohepatitis" EXACT [DOID:0080547] -synonym: "nonalcoholic steatohepatitis" EXACT [NCIT:C84445] +synonym: "nonalcoholic steatohepatitis" EXACT [DOID:0080547, NCIT:C84445] xref: DOID:0080547 {source="MONDO:equivalentTo"} xref: EFO:1001249 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K75.81 {source="EFO:1001249"} @@ -139864,14 +139874,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:107"} subset: orphanet_rare {source="Orphanet:107"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bor syndrome" RELATED [Orphanet:107] +synonym: "bor syndrome" RELATED [] synonym: "Branchio oto renal syndrome" RELATED [GARD:0010147] -synonym: "Branchio-Oto-renal syndrome" EXACT [DOID:14702, MTH:NOCODE] -synonym: "branchio-oto-renal syndrome" EXACT CLINGEN_LABEL [] +synonym: "Branchio-Oto-renal syndrome" EXACT [DOID:14702, icd11.foundation:504227287, MTH:NOCODE, NCIT:C98983] +synonym: "branchio-oto-renal syndrome" EXACT CLINGEN_LABEL [DOID:14702, icd11.foundation:504227287, NCIT:C98983] synonym: "Branchio-otorenal dysplasia" EXACT [DOID:14702] synonym: "branchiootorenal dysplasia" EXACT [DOID:14702] -synonym: "branchiootorenal syndrome" EXACT [Orphanet:107] -synonym: "Melnick-Fraser syndrome" EXACT [DOID:14702] +synonym: "branchiootorenal syndrome" EXACT [DOID:14702, OMIMPS:113650, Orphanet:107] +synonym: "Melnick-Fraser syndrome" EXACT [DOID:14702, NCIT:C98983, Orphanet:107] xref: DOID:14702 {source="EFO:1001251", source="MONDO:equivalentTo"} xref: GARD:10147 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:107/attributed", source="Orphanet:107/ntbt", source="Orphanet:107"} @@ -139904,11 +139914,11 @@ subset: gard_rare {source="GARD:15029", source="MONDO:GARD"} subset: nord_rare {source="NORD:702", source="MONDO:NORD"} subset: rare synonym: "Aarskog Syndrome" RELATED [NORD:702] -synonym: "Aarskog syndrome" RELATED [DOID:6683] -synonym: "Aarskog syndrome, autosomal dominant" RELATED [OMIM:100050] -synonym: "Aarskog-Scott syndrome" RELATED [DOID:6683] -synonym: "faciogenital dysplasia" RELATED [DOID:6683] -synonym: "Greig's syndrome" RELATED EXCLUDE [DOID:6683] +synonym: "Aarskog syndrome" RELATED [] +synonym: "Aarskog syndrome, autosomal dominant" RELATED [] +synonym: "Aarskog-Scott syndrome" RELATED [] +synonym: "faciogenital dysplasia" RELATED [] +synonym: "Greig's syndrome" RELATED EXCLUDE [] xref: DOID:0111825 {source="MONDO:equivalentTo"} xref: GARD:15029 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="DOID:6683"} @@ -139960,16 +139970,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:2970"} subset: orphanet_rare {source="Orphanet:2970"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "abdominal muscle deficiency syndrome" EXACT [DOID:0060889, Orphanet:2970] -synonym: "abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism" RELATED [OMIM:100100] +synonym: "abdominal muscle deficiency syndrome" EXACT [DOID:0060889, icd11.foundation:1393408621, Orphanet:2970] +synonym: "abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism" RELATED [] synonym: "eagle-Barret syndrome" EXACT [DOID:0060889, Orphanet:2970] -synonym: "eagle-Barrett syndrome" RELATED [OMIM:100100] -synonym: "Obrinsky syndrome" EXACT [Orphanet:2970] +synonym: "eagle-Barrett syndrome" RELATED [] +synonym: "Obrinsky syndrome" EXACT [icd11.foundation:1393408621, Orphanet:2970] synonym: "Obrisnksy syndrome" EXACT [DOID:0060889] -synonym: "PBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:100100] -synonym: "prune belly syndrome" EXACT [MONDO:Lexical, OMIM:100100] +synonym: "PBS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "prune belly syndrome" EXACT [DOID:0060889, icd11.foundation:1393408621, MONDO:Lexical, NCIT:C85033, OMIM:100100, Orphanet:2970] synonym: "syndrome of agenesis of abdominal muscles" EXACT [NCIT:C85033] -synonym: "triad syndrome" EXACT [Orphanet:2970] +synonym: "triad syndrome" EXACT [icd11.foundation:1393408621, NCIT:C85033, Orphanet:2970] xref: DOID:0060889 {source="MONDO:equivalentTo"} xref: GARD:7479 {source="MONDO:GARD"} xref: ICD10CM:Q79.4 {source="Orphanet:2970/attributed", source="Orphanet:2970/ntbt", source="Orphanet:2970", source="DOID:0060889"} @@ -139996,25 +140006,25 @@ name: abducens nerve palsy def: "Paralysis of the abducens nerve." [NCIT:C27592] synonym: "6th nerve palsy" RELATED [GARD:0009482] synonym: "abducens nerve cranial nerve palsy" EXACT [MONDO:patterns/location] -synonym: "abducens nerve disease" RELATED [DOID:10865] -synonym: "abducens nerve disorder" RELATED EXCLUDE [DOID:10865] +synonym: "abducens nerve disease" RELATED [] +synonym: "abducens nerve disorder" RELATED EXCLUDE [] synonym: "abducens nerve weakness" EXACT [DOID:10865] -synonym: "abducens palsy" RELATED [OMIM:100200] -synonym: "abducent nerve paralysis" EXACT [NCIT:C27592] +synonym: "abducens palsy" RELATED [] +synonym: "abducent nerve paralysis" EXACT [] synonym: "cranial mononeuropathy VI" RELATED [GARD:0009482] synonym: "cranial nerve palsy of abducens nerve" EXACT [MONDO:design_pattern] synonym: "cranial nerve VI palsy" RELATED [GARD:0009482] -synonym: "disorder of abducent nerve" EXACT [DOID:10865] +synonym: "disorder of abducent nerve" EXACT [] synonym: "lateral rectus muscle denervation paresis" EXACT [DOID:10865] synonym: "lateral rectus muscle innervation disorder" EXACT [DOID:10865] synonym: "sixth cranial nerve disorder" EXACT [DOID:10865] -synonym: "sixth cranial nerve disorder, NOS" RELATED EXCLUDE [DOID:10865] +synonym: "sixth cranial nerve disorder, NOS" RELATED EXCLUDE [] synonym: "sixth cranial nerve palsy" RELATED [GARD:0009482] synonym: "sixth nerve palsy" EXACT [DOID:10865, GARD:0009482] synonym: "sixth nerve paralysis" EXACT [NCIT:C27592] -synonym: "sixth or abducens nerve palsy" EXACT [DOID:10865, ICD9CM:378.54] +synonym: "sixth or abducens nerve palsy" EXACT [ICD9CM:378.54] synonym: "VI nerve palsy" RELATED [GARD:0009482] -synonym: "VIth nerve disorder" BROAD [DOID:10865, NCIT:C27593] +synonym: "VIth nerve disorder" BROAD [] synonym: "VIth nerve paralysis" EXACT [DOID:10865, NCIT:C27592] xref: DOID:10865 {source="MONDO:equivalentTo"} xref: ICD10CM:H49.2 {source="DOID:10865"} @@ -140057,7 +140067,7 @@ synonym: "AOS" EXACT ABBREVIATION [Orphanet:974] synonym: "congenital scalp defects with distal limb anomalies" EXACT [Orphanet:974] synonym: "congenital scalp defects with distal limb reduction anomalies" EXACT [Orphanet:974] synonym: "limb scalp and skull defects" RELATED [GARD:0005739] -synonym: "limb, scalp and skull defects" EXACT [Orphanet:974] +synonym: "limb, scalp and skull defects" EXACT [] xref: DOID:0060227 {source="MONDO:equivalentTo"} xref: GARD:5739 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:974/attributed", source="Orphanet:974/ntbt", source="Orphanet:974"} @@ -140085,9 +140095,9 @@ id: MONDO:0007035 name: acanthosis nigricans def: "A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "acanthosis nigricans" EXACT [MONDO:ambiguous, OMIM:100600] +synonym: "acanthosis nigricans" EXACT [DOID:3138, ICD10CM:L83, icd11.foundation:71488193, MONDO:ambiguous, NCIT:C26687] synonym: "acanthosis nigricans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "an - acanthosis nigricans" EXACT [DOID:3138] +synonym: "an - acanthosis nigricans" EXACT [] synonym: "keratosis nigricans" EXACT [DOID:3138] xref: DOID:3138 {source="EFO:1000660", source="MONDO:equivalentTo"} xref: EFO:1000660 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -140109,7 +140119,7 @@ property_value: IAO:0000589 "acanthosis nigricans (disease)" xsd:string id: MONDO:0007036 name: Achard syndrome def: "A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet." [NCIT:P378] -synonym: "Achard syndrome" EXACT [OMIM:100700] +synonym: "Achard syndrome" EXACT [DOID:6686, NCIT:C35809, OMIM:100700] synonym: "arachnodactyly, receding lower jaw and joint laxity of hands/feet" RELATED [GARD:0008176] xref: DOID:6686 {source="MONDO:equivalentTo"} xref: MEDGEN:272277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -140133,11 +140143,11 @@ subset: orphanet_rare {source="Orphanet:15"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:100800] -synonym: "Achondroplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:100800] +synonym: "Achondroplasia" EXACT CLINGEN_LABEL [DOID:4480, ICD10CM:Q77.4, icd11.foundation:24224082, MONDO:Lexical, NCIT:C34345, OMIM:100800, Orphanet:15] synonym: "Achondroplastic dwarfism" RELATED [GARD:0008173] synonym: "Achondroplastic physique" EXACT [DOID:4480] synonym: "chondrodystrophia" EXACT [DOID:4480] -synonym: "osteosclerosis congenita" EXACT EXCLUDE [DOID:4480] +synonym: "osteosclerosis congenita" EXACT EXCLUDE [] xref: DOID:4480 {source="MONDO:equivalentTo"} xref: GARD:8173 {source="MONDO:GARD"} xref: ICD10CM:Q77.4 {source="MONDO:equivalentTo", source="Orphanet:15", source="Orphanet:15/specific", source="DOID:4480", source="Orphanet:15/e"} @@ -140173,10 +140183,10 @@ id: MONDO:0007038 name: Achoo syndrome synonym: "Achoo syndrome" EXACT [GARD:0010036, OMIM:100820] synonym: "autosomal dominant compelling helio ophthalmic outburst syndrome" RELATED [GARD:0010036] -synonym: "autosomal dominant compelling Helioophthalmic outburst syndrome" RELATED [OMIM:100820] -synonym: "Peroutka sneeze" RELATED [OMIM:100820] -synonym: "photic sneeze reflex" RELATED [OMIM:100820] -synonym: "sneezing from Light exposure" RELATED [OMIM:100820] +synonym: "autosomal dominant compelling Helioophthalmic outburst syndrome" RELATED [] +synonym: "Peroutka sneeze" RELATED [] +synonym: "photic sneeze reflex" RELATED [] +synonym: "sneezing from Light exposure" RELATED [] xref: MEDGEN:400287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535300 {source="MONDO:equivalentTo"} xref: OMIM:100820 {source="MONDO:equivalentTo"} @@ -140195,27 +140205,27 @@ subset: orphanet_rare {source="Orphanet:637"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acoustic neurinoma bilateral" RELATED [GARD:0007193] -synonym: "acoustic neurinoma, bilateral" RELATED [OMIM:101000] -synonym: "acoustic neurofibromatosis" BROAD [NCIT:C3274] +synonym: "acoustic neurinoma, bilateral" RELATED [] +synonym: "acoustic neurofibromatosis" BROAD [] synonym: "acoustic schwannomas bilateral" RELATED [GARD:0007193] -synonym: "acoustic Schwannomas, bilateral" RELATED [OMIM:101000] -synonym: "bilateral acoustic neurofibromatosis" EXACT [NCIT:C3274, OMIM:101000, Orphanet:637] -synonym: "central neurofibromatosis" EXACT [NCIT:C3274, Orphanet:637] +synonym: "acoustic Schwannomas, bilateral" RELATED [] +synonym: "bilateral acoustic neurofibromatosis" EXACT [DOID:0111252, icd11.foundation:14808714, NCIT:C3274] +synonym: "central neurofibromatosis" EXACT [DOID:0111252, NCIT:C3274] synonym: "full neurofibromatosis type 2" EXACT [Orphanet:637, PMID:20301380] synonym: "full NF2" EXACT [Orphanet:637, PMID:20301380] -synonym: "neurofibromatosis 2" EXACT [NCIT:C3274] +synonym: "neurofibromatosis 2" EXACT [DOID:0111252, NCIT:C3274] synonym: "neurofibromatosis central type" RELATED [GARD:0007193] -synonym: "neurofibromatosis type 2" EXACT CLINGEN_LABEL [NCIT:C3274] +synonym: "neurofibromatosis type 2" EXACT CLINGEN_LABEL [icd11.foundation:14808714, NCIT:C3274] synonym: "neurofibromatosis type II" RELATED [GARD:0007193] -synonym: "neurofibromatosis, central type" RELATED [OMIM:101000] -synonym: "neurofibromatosis, type 2" RELATED [OMIM:101000] -synonym: "neurofibromatosis, type II" RELATED [MONDO:Lexical, OMIM:101000] -synonym: "NF2" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3274, OMIM:101000, Orphanet:637] -synonym: "NF2-related schwannomatosis" EXACT [Orphanet:637, PMID:20301380] +synonym: "neurofibromatosis, central type" RELATED [] +synonym: "neurofibromatosis, type 2" RELATED [] +synonym: "neurofibromatosis, type II" RELATED [MONDO:Lexical] +synonym: "NF2" EXACT ABBREVIATION [DOID:0111252, MONDO:Lexical] +synonym: "NF2-related schwannomatosis" EXACT [DOID:0111252, PMID:20301380] synonym: "nonmosaic neurofibromatosis type 2" EXACT [Orphanet:637, PMID:20301380] synonym: "nonmosaic NF2-related schwannomatosis" EXACT [Orphanet:637, PMID:20301380] -synonym: "SWNV" EXACT ABBREVIATION [OMIM:101000] -synonym: "vestibular schwannomatosis" EXACT [OMIM:101000] +synonym: "SWNV" EXACT ABBREVIATION [DOID:0111252, OMIM:101000] +synonym: "vestibular schwannomatosis" EXACT [DOID:0111252] xref: DOID:0111252 {source="MONDO:equivalentTo"} xref: GARD:7193 {source="MONDO:GARD"} xref: ICD10CM:Q85.0 {source="Orphanet:637", source="Orphanet:637/attributed", source="Orphanet:637/ntbt"} @@ -140246,13 +140256,13 @@ name: Sakati-Nyhan syndrome def: "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections." [DOID:0060359, Wikipedia:Sakati–Nyhan–Tisdale_syndrome] subset: gard_rare {source="GARD:115", source="MONDO:GARD"} subset: rare -synonym: "ACPS 3" RELATED [GARD:0000115, OMIM:101120] -synonym: "ACPS with leg hypoplasia" EXACT [DOID:0060359] +synonym: "ACPS 3" RELATED [GARD:0000115] +synonym: "ACPS with leg hypoplasia" EXACT [DOID:0060359, OMIM:101120] synonym: "ACPS3" RELATED ABBREVIATION [GARD:0000115] -synonym: "acrocephalopolysyndactyly type 3" EXACT [DOID:0060359, GARD:0000115] -synonym: "acrocephalopolysyndactyly type III" EXACT [DOID:0060359, OMIM:101120] +synonym: "acrocephalopolysyndactyly type 3" EXACT [DOID:0060359, GARD:0000115, OMIM:101120] +synonym: "acrocephalopolysyndactyly type III" EXACT [DOID:0060359] synonym: "Sakati syndrome" RELATED [GARD:0000115] -synonym: "Sakati-Nyhan syndrome" EXACT [GARD:0000115, OMIM:101120] +synonym: "Sakati-Nyhan syndrome" EXACT [DOID:0060359, GARD:0000115, OMIM:101120] synonym: "Sakati-Nyhan-Tisdale syndrome" EXACT [DOID:0060359] xref: DOID:0060359 {source="MONDO:equivalentTo"} xref: GARD:115 {source="MONDO:GARD"} @@ -140281,16 +140291,16 @@ subset: rare synonym: "acrocephalo-syndactyly type 1" RELATED [GARD:0005833] synonym: "acrocephalosyndactyly type 1" EXACT [Orphanet:87] synonym: "acrocephalosyndactyly type I" EXACT [NCIT:C99099] -synonym: "acrocephalosyndactyly, type 1" RELATED [OMIM:101200] -synonym: "acrocephalosyndactyly, type 2" RELATED [OMIM:101200] -synonym: "ACS 1" RELATED [OMIM:101200] -synonym: "ACS 2" RELATED [OMIM:101200] +synonym: "acrocephalosyndactyly, type 1" RELATED [] +synonym: "acrocephalosyndactyly, type 2" RELATED [] +synonym: "ACS 1" RELATED [] +synonym: "ACS 2" RELATED [] synonym: "ACS1" EXACT ABBREVIATION [Orphanet:87] -synonym: "Apert syndrome" EXACT [OMIM:101200] -synonym: "Apert-Crouzon disease" RELATED [OMIM:101200] +synonym: "Apert syndrome" EXACT [icd11.foundation:1962779847, NCIT:C99099, OMIM:101200, Orphanet:87] +synonym: "Apert-Crouzon disease" RELATED [] synonym: "syndactylic oxycephaly" RELATED [GARD:0005833] synonym: "type I Acrocephalosyndactyly" EXACT [NCIT:C99099] -synonym: "Vogt Cephalodactyly" RELATED [OMIM:101200] +synonym: "Vogt Cephalodactyly" RELATED [] xref: GARD:5833 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:87", source="Orphanet:87/ntbt", source="Orphanet:87/inclusion"} xref: icd11.foundation:1962779847 {source="Orphanet:87", source="MONDO:equivalentTo"} @@ -140330,18 +140340,18 @@ subset: rare synonym: "acrocephalo-syndactyly, type 3" RELATED [GARD:0007598] synonym: "acrocephalosyndactyly type 3" EXACT [Orphanet:794] synonym: "acrocephalosyndactyly type III" RELATED [DOID:14768] -synonym: "acrocephalosyndactyly, type 3" RELATED [OMIM:101400] -synonym: "acrocephaly, skull asymmetry, and mild syndactyly" RELATED [OMIM:101400] -synonym: "ACS 3" RELATED [OMIM:101400] +synonym: "acrocephalosyndactyly, type 3" RELATED [] +synonym: "acrocephaly, skull asymmetry, and mild syndactyly" RELATED [] +synonym: "ACS 3" RELATED [] synonym: "ACS3" EXACT ABBREVIATION [Orphanet:794] -synonym: "blepharophimosis, epicanthus inversus, and ptosis 3" RELATED DEPRECATED [OMIM:101400] -synonym: "blepharophimosis, epicanthus inversus, and ptosis 3, formerly" RELATED DEPRECATED [OMIM:101400] +synonym: "blepharophimosis, epicanthus inversus, and ptosis 3" RELATED DEPRECATED [] +synonym: "blepharophimosis, epicanthus inversus, and ptosis 3, formerly" RELATED DEPRECATED [] synonym: "blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)" RELATED DEPRECATED [GARD:0007598] -synonym: "Chotzen syndrome" RELATED [OMIM:101400] +synonym: "Chotzen syndrome" RELATED [] synonym: "Saethre Chotzen Syndrome" EXACT [NORD:1686] -synonym: "Saethre-Chotzen syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:101400] -synonym: "Saethre-Chotzen syndrome with eyelid anomalies" RELATED [OMIM:101400] -synonym: "Saethre-Chotzen syndrome with or without eyelid anomalies" EXACT [OMIM:101400, OMIM:genemap2] +synonym: "Saethre-Chotzen syndrome" EXACT CLINGEN_LABEL [DOID:14768, icd11.foundation:2109857109, MONDO:Lexical, NCIT:C75034, OMIM:101400, Orphanet:794] +synonym: "Saethre-Chotzen syndrome with eyelid anomalies" RELATED [] +synonym: "Saethre-Chotzen syndrome with or without eyelid anomalies" EXACT [] synonym: "SCS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:101400, Orphanet:794] synonym: "type III Acrocephalosyndactyly" EXACT [NCIT:C75034] xref: DOID:14768 {source="MONDO:equivalentTo"} @@ -140385,12 +140395,12 @@ subset: rare synonym: "acrocephalosyndactylia type V" EXACT [DOID:14705] synonym: "acrocephalosyndactyly type 5" EXACT [Orphanet:710] synonym: "acrocephalosyndactyly type V" EXACT [NCIT:C99100] -synonym: "acrocephalosyndactyly, type 5" RELATED [OMIM:101600] -synonym: "ACS 5" RELATED [OMIM:101600] +synonym: "acrocephalosyndactyly, type 5" RELATED [] +synonym: "ACS 5" RELATED [] synonym: "ACS5" EXACT ABBREVIATION [Orphanet:710] -synonym: "craniofacial-skeletal-Dermatologic dysplasia" RELATED [OMIM:101600] -synonym: "Noack syndrome" RELATED [OMIM:101600, Wikipedia:Acrocephalosyndactylia] -synonym: "Pfeiffer syndrome" EXACT [OMIM:101600] +synonym: "craniofacial-skeletal-Dermatologic dysplasia" RELATED [] +synonym: "Noack syndrome" RELATED [Wikipedia:Acrocephalosyndactylia] +synonym: "Pfeiffer syndrome" EXACT [DOID:14705, icd11.foundation:1075159878, NCIT:C99100, OMIM:101600, Orphanet:710] synonym: "Pfeiffer type acrocephalosyndactyly" RELATED [GARD:0007380] synonym: "type V Acrocephalosyndactyly" EXACT [NCIT:C99100] xref: DOID:14705 {source="MONDO:equivalentTo"} @@ -140424,10 +140434,10 @@ def: "An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKA subset: gard_rare {source="GARD:15030", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ACRDYS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:101800] +synonym: "ACRDYS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Acrodysostosis 1" EXACT [NCIT:C136464] synonym: "Acrodysostosis 1 with or without hormone resistance" EXACT [MONDO:Lexical, OMIM:101800] -synonym: "Acrodysostosis 1, with or without hormone resistance" EXACT [OMIM:101800, OMIM:genemap2] +synonym: "Acrodysostosis 1, with or without hormone resistance" EXACT [] synonym: "ADOHR" EXACT ABBREVIATION [OMIM:101800] xref: GARD:15030 {source="MONDO:GARD"} xref: MEDGEN:477858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -140455,9 +140465,9 @@ subset: orphanet_rare {source="Orphanet:1786"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acrofacial dysostosis Catania type" RELATED [GARD:0000494] -synonym: "acrofacial dysostosis, Catania type" EXACT [OMIM:101805] +synonym: "acrofacial dysostosis, Catania type" EXACT [DOID:0060384, icd11.foundation:750680130, OMIM:101805, Orphanet:1786] synonym: "AFD Catania type" RELATED [GARD:0000494] -synonym: "Afd, Catania type" RELATED [OMIM:101805] +synonym: "Afd, Catania type" RELATED [] synonym: "Opitz Mollica Sorge syndrome" EXACT [DOID:0060384] synonym: "Opitz-Caltabiano syndrome" EXACT [DOID:0060384, Orphanet:1786] xref: DOID:0060384 {source="MONDO:equivalentTo"} @@ -140480,7 +140490,7 @@ id: MONDO:0007046 name: hereditary papulotranslucent acrokeratoderma def: "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." [EFO:1000708] subset: otar {source="MONDO:OTAR"} -synonym: "acrokeratoderma, hereditary papulotranslucent" RELATED [OMIM:101840] +synonym: "acrokeratoderma, hereditary papulotranslucent" RELATED [] xref: DOID:0060360 {source="EFO:1000708", source="MONDO:equivalentTo"} xref: EFO:1000708 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:350144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -140502,17 +140512,18 @@ subset: ordo_disorder {source="Orphanet:38"} subset: orphanet_rare {source="Orphanet:38"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrokeratoelastoidosis" RELATED [OMIM:101850] -synonym: "acrokeratoelastoidosis of Costa" EXACT [DOID:0060362] +synonym: "acrokeratoelastoidosis" RELATED [] +synonym: "acrokeratoelastoidosis of Costa" EXACT [DOID:0060362, Orphanet:38] synonym: "aganglionosis, total colonic" RELATED [GARD:0000133] -synonym: "ake" EXACT [Orphanet:38] +synonym: "AKE" EXACT ABBREVIATION [Orphanet:38] +synonym: "ake" EXACT [] synonym: "collagenous plaques of hand and feet" RELATED [GARD:0000125] -synonym: "collagenous plaques of hands and feet" RELATED [OMIM:101850] -synonym: "keratoderma, palmoplantar, punctate type 3" EXACT [OMIM:101850, OMIM:genemap2] +synonym: "collagenous plaques of hands and feet" RELATED [] +synonym: "keratoderma, palmoplantar, punctate type 3" EXACT [] synonym: "near-total intestinal aganglionosis" RELATED [GARD:0000133] synonym: "NTIA" RELATED ABBREVIATION [GARD:0000133] synonym: "palmoplantar keratoderma, punctate type 3" RELATED [GARD:0000125] -synonym: "palmoplantar keratoderma, punctate type III" RELATED [MONDO:Lexical, OMIM:101850] +synonym: "palmoplantar keratoderma, punctate type III" RELATED [MONDO:Lexical] synonym: "PPKP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:101850, Orphanet:38] synonym: "punctate palmoplantar hyperkeratosis type 3" EXACT [DOID:0060362, Orphanet:38] synonym: "punctate palmoplantar keratoderma type 3" EXACT [DOID:0060362, Orphanet:38] @@ -140547,9 +140558,9 @@ subset: ordo_disorder {source="Orphanet:79151"} subset: orphanet_rare {source="Orphanet:79151"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrokeratosis verruciformis" EXACT [MONDO:Lexical, OMIM:101900] -synonym: "acrokeratosis verruciformis of Hopf" EXACT [DOID:0050606] -synonym: "AKV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:101900] +synonym: "acrokeratosis verruciformis" EXACT [DOID:0050606, MONDO:Lexical, NCIT:C27519, OMIM:101900] +synonym: "acrokeratosis verruciformis of Hopf" EXACT [DOID:0050606, NCIT:C27519, Orphanet:79151] +synonym: "AKV" RELATED ABBREVIATION [MONDO:Lexical] synonym: "AKV of Hopf" EXACT [Orphanet:79151] synonym: "Hopf disease" EXACT [DOID:0050606, OMIM:101900] xref: DOID:0050606 {source="MONDO:equivalentTo", source="EFO:1000666"} @@ -140584,8 +140595,8 @@ id: MONDO:0007050 name: acromegaloid changes, cutis verticis gyrata, and corneal leukoma synonym: "acromegaloid changes, cutis verticis gyrata and corneal leukoma" RELATED [GARD:0000500] synonym: "acromegaloid changes, cutis verticis gyrata, and corneal leukoma" EXACT [OMIM:102100] -synonym: "acromegaly-cutis verticis gyrata-corneal leukoma syndrome" EXACT [Orphanet:964] -synonym: "Rosenthal-Kloepfer syndrome" RELATED [OMIM:102100] +synonym: "acromegaly-cutis verticis gyrata-corneal leukoma syndrome" EXACT [] +synonym: "Rosenthal-Kloepfer syndrome" RELATED [] xref: MEDGEN:231158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535654 {source="MONDO:equivalentTo"} xref: OMIM:102100 {source="MONDO:equivalentTo"} @@ -140603,8 +140614,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:965"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acromegaloid facial appearance syndrome" EXACT [OMIM:102150] -synonym: "AFA syndrome" RELATED [OMIM:102150] -synonym: "thick lips and oral mucosa" RELATED [OMIM:102150] +synonym: "AFA syndrome" RELATED [] +synonym: "thick lips and oral mucosa" RELATED [] xref: GARD:501 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:965", source="Orphanet:965/specific", source="Orphanet:965/e"} xref: MEDGEN:167116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -140623,20 +140634,20 @@ name: growth hormone secreting pituitary adenoma 1 comment: Editor note: consider splitting OMIM subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "acromegaly due to pituitary adenoma 1" RELATED [OMIM:102200] +synonym: "acromegaly due to pituitary adenoma 1" RELATED [] synonym: "familial isolated pituitary adenoma syndrome" RELATED [GARD:0010959] -synonym: "isolated familial somatotropinoma" RELATED [OMIM:102200] -synonym: "PAGH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102200] -synonym: "PITA1" RELATED ABBREVIATION [OMIM:102200] -synonym: "pituitary adenoma 1, multiple types" RELATED [OMIM:102200] -synonym: "pituitary adenoma 1, multiple types, autosomal dominant, somatic mutation" EXACT [OMIM:102200, OMIM:genemap2] -synonym: "pituitary adenoma predisposition" RELATED [OMIM:102200] -synonym: "pituitary adenoma predisposition, autosomal dominant, somatic mutation" EXACT [OMIM:102200, OMIM:genemap2] -synonym: "pituitary adenoma, familial isolated" RELATED [OMIM:102200] -synonym: "pituitary adenoma, growth hormone-secreting, 1" RELATED [MONDO:Lexical, OMIM:102200] -synonym: "pituitary adenoma, growth hormone-secreting, type 1" EXACT [MONDORULE:1, OMIM:102200] -synonym: "Somatotrophinoma, familial" RELATED [OMIM:102200] -synonym: "somatotropinoma, familial isolated" RELATED [OMIM:102200] +synonym: "isolated familial somatotropinoma" RELATED [] +synonym: "PAGH1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PITA1" RELATED ABBREVIATION [] +synonym: "pituitary adenoma 1, multiple types" RELATED [] +synonym: "pituitary adenoma 1, multiple types, autosomal dominant, somatic mutation" EXACT [] +synonym: "pituitary adenoma predisposition" RELATED [] +synonym: "pituitary adenoma predisposition, autosomal dominant, somatic mutation" EXACT [] +synonym: "pituitary adenoma, familial isolated" RELATED [] +synonym: "pituitary adenoma, growth hormone-secreting, 1" RELATED [MONDO:Lexical] +synonym: "pituitary adenoma, growth hormone-secreting, type 1" EXACT [MONDORULE:1] +synonym: "Somatotrophinoma, familial" RELATED [] +synonym: "somatotropinoma, familial isolated" RELATED [] xref: DOID:0112009 {source="MONDO:equivalentTo"} xref: MEDGEN:1618709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:102200 {source="MONDO:equivalentTo", source="DOID:6255"} @@ -140653,10 +140664,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007053 name: restless legs syndrome, susceptibility to, 1 subset: predisposition -synonym: "acromelalgia, hereditary" RELATED [OMIM:102300] -synonym: "Ekbom syndrome" RELATED [OMIM:102300] +synonym: "acromelalgia, hereditary" RELATED [] +synonym: "Ekbom syndrome" RELATED [] synonym: "restless legs syndrome, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:102300] -synonym: "RLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102300] +synonym: "RLS1" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:360293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538443 {source="MONDO:equivalentTo"} xref: OMIM:102300 {source="MONDO:equivalentTo"} @@ -140669,7 +140680,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007054 name: acromial dimples synonym: "acromial dimples" EXACT [OMIM:102350] -synonym: "supraspinous fossae, congenital" RELATED [OMIM:102350] +synonym: "supraspinous fossae, congenital" RELATED [] xref: MEDGEN:869278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:102350 {source="MONDO:equivalentTo"} xref: UMLS:C4023704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:869278"} @@ -140686,8 +140697,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:969"} subset: orphanet_rare {source="Orphanet:969"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACMICD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102370] -synonym: "Acromicric dysplasia" EXACT [MONDO:Lexical, OMIM:102370] +synonym: "ACMICD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Acromicric dysplasia" EXACT [DOID:0111243, icd11.foundation:1006372687, MONDO:Lexical, OMIM:102370, Orphanet:969] synonym: "Acromicric skeletal dysplasia" RELATED [GARD:0000007] xref: DOID:0111243 {source="MONDO:equivalentTo"} xref: GARD:7 {source="MONDO:GARD"} @@ -140715,7 +140726,7 @@ subset: gard_rare {source="GARD:15031", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acroosteolysis" EXACT [OMIM:102400] +synonym: "acroosteolysis" EXACT [NCIT:C35545, OMIM:102400] xref: GARD:15031 {source="MONDO:GARD"} xref: MEDGEN:183017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D030981 {source="MONDO:equivalentTo"} @@ -140737,15 +140748,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:955"} subset: orphanet_rare {source="Orphanet:955"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrodentoosteodysplasia" EXACT [Orphanet:955] -synonym: "acroosteolysis with osteoporosis and changes in skull and mandible" EXACT [OMIM:102500, Orphanet:955] -synonym: "Arthrodentoosteodysplasia" EXACT [Orphanet:955] -synonym: "Cheney syndrome" EXACT [OMIM:102500, Orphanet:955] +synonym: "acrodentoosteodysplasia" EXACT [] +synonym: "acroosteolysis with osteoporosis and changes in skull and mandible" EXACT [DOID:2736, Orphanet:955] +synonym: "Arthrodentoosteodysplasia" EXACT [DOID:2736, OMIM:102500, Orphanet:955] +synonym: "Cheney syndrome" EXACT [DOID:2736, OMIM:102500, Orphanet:955] synonym: "Hajdu Cheney Syndrome" EXACT [NORD:1214] -synonym: "Hajdu-Cheney syndrome" EXACT [MONDO:Lexical, OMIM:102500, Orphanet:955] -synonym: "HJCYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102500] +synonym: "Hajdu-Cheney syndrome" EXACT [DOID:2736, MONDO:Lexical, NCIT:C84745, OMIM:102500, Orphanet:955] +synonym: "HJCYS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "serpentine fibula polycystic kidney syndrome" EXACT [MESH:C537586] -synonym: "serpentine fibula-polycystic kidney syndrome" EXACT [OMIM:102500] +synonym: "serpentine fibula-polycystic kidney syndrome" EXACT [DOID:2736, OMIM:102500] synonym: "serpentine fibula-polycystic kidneys syndrome" EXACT [GARD:0000508] xref: DOID:2736 {source="MONDO:equivalentTo"} xref: GARD:508 {source="MONDO:GARD"} @@ -140788,9 +140799,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:957"} subset: orphanet_rare {source="Orphanet:957"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Acropectorovertebral dysplasia" EXACT [GARD:0000512, MONDO:Lexical, OMIM:102510] +synonym: "Acropectorovertebral dysplasia" EXACT [GARD:0000512, icd11.foundation:1013313909, MONDO:Lexical, OMIM:102510, Orphanet:957] synonym: "Acropectorovertebral dysplasia F form" RELATED [GARD:0000512] -synonym: "ACRPV" RELATED ABBREVIATION [GARD:0000512, MONDO:Lexical, OMIM:102510] +synonym: "ACRPV" RELATED ABBREVIATION [GARD:0000512, MONDO:Lexical] synonym: "F syndrome" EXACT [GARD:0000512, OMIM:102510, Orphanet:957] xref: GARD:512 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:957", source="Orphanet:957/attributed", source="Orphanet:957/ntbt"} @@ -140817,7 +140828,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:971"} subset: orphanet_rare {source="Orphanet:971"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrorenal syndrome" EXACT [OMIM:102520] +synonym: "acrorenal syndrome" EXACT [DOID:0060347, icd11.foundation:1948375645, OMIM:102520, Orphanet:971] xref: DOID:0060347 {source="MONDO:equivalentTo"} xref: GARD:514 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:971/attributed", source="Orphanet:971/ntbt", source="Orphanet:971"} @@ -140836,15 +140847,15 @@ name: spermatogenic failure 6 def: "Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15032", source="MONDO:GARD"} subset: rare -synonym: "acrosome malformation of spermatozoa" RELATED [OMIM:102530] +synonym: "acrosome malformation of spermatozoa" RELATED [] synonym: "azoospermia caused by mutation in SPATA16" EXACT [MONDO:design_pattern] -synonym: "globozoospermia" RELATED [OMIM:102530] -synonym: "round-headed spermatozoa" RELATED [OMIM:102530] +synonym: "globozoospermia" RELATED [] +synonym: "round-headed spermatozoa" RELATED [] synonym: "SPATA16 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spermatogenic failure 6" EXACT [MONDO:Lexical, OMIM:102530] -synonym: "spermatogenic failure type 6" EXACT [MONDORULE:1, OMIM:102530] -synonym: "spermatozoa, round-headed" RELATED [OMIM:102530] -synonym: "SPGF6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:102530] +synonym: "spermatogenic failure 6" EXACT [DOID:0070167, MONDO:Lexical, OMIM:102530] +synonym: "spermatogenic failure type 6" EXACT [MONDORULE:1] +synonym: "spermatozoa, round-headed" RELATED [] +synonym: "SPGF6" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070167 {source="MONDO:equivalentTo"} xref: GARD:15032 {source="MONDO:GARD"} xref: MEDGEN:96048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -140865,7 +140876,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007061 name: obsolete acylase, cobalt-activated comment: Reason: out of scope. Term to consider: none -synonym: "acylase, cobalt-activated" EXACT [OMIM:102590] +synonym: "acylase, cobalt-activated" EXACT [] xref: OMIM:102590 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4422" xsd:anyURI @@ -140883,11 +140894,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adactylia unilateral" EXACT [GARD:0000377] synonym: "adactylia, unilateral" EXACT [OMIM:102650] -synonym: "Adactyly of hand, unilateral" EXACT [Orphanet:973] -synonym: "congenital absence/hypoplasia of fingers excluding thumb, unilateral" EXACT [Orphanet:973] -synonym: "digits 2-5 hypodactyly, unilateral" EXACT [Orphanet:973] -synonym: "digits 2-5 oligodactyly, unilateral" EXACT [Orphanet:973] -synonym: "terminal transverse defects of hand, unilateral" RELATED [GARD:0000377, OMIM:102650] +synonym: "Adactyly of hand, unilateral" EXACT [] +synonym: "congenital absence/hypoplasia of fingers excluding thumb, unilateral" EXACT [] +synonym: "digits 2-5 hypodactyly, unilateral" EXACT [] +synonym: "digits 2-5 oligodactyly, unilateral" EXACT [] +synonym: "terminal transverse defects of hand, unilateral" RELATED [GARD:0000377] xref: GARD:377 {source="MONDO:GARD"} xref: ICD10CM:Q71.3 {source="Orphanet:973", source="Orphanet:973/attributed", source="Orphanet:973/ntbt"} xref: MEDGEN:113098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -140925,19 +140936,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ADA" EXACT ABBREVIATION [DOID:5810] synonym: "ADA deficiency" EXACT [Orphanet:277] -synonym: "ADA-SCID" EXACT [OMIM:102700] +synonym: "ADA-SCID" EXACT ABBREVIATION [NCIT:C3962, OMIM:102700] synonym: "adenosine deaminase deficiency" EXACT CLINGEN_LABEL [DOID:5810, NCIT:C3962] -synonym: "adenosine deaminase deficiency, partial" RELATED [OMIM:102700] -synonym: "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism" EXACT [OMIM:102700, OMIM:genemap2] +synonym: "adenosine deaminase deficiency, partial" RELATED [] +synonym: "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism" EXACT [] synonym: "adenosine deaminase deficient severe combined immunodeficiency" EXACT [GARD:0005748] -synonym: "partial ADA deficiency" RELATED [OMIM:102700] +synonym: "partial ADA deficiency" RELATED [] synonym: "SCID due to ADA deficiency" EXACT [OMIM:102700] -synonym: "SCID due to ADA deficiency, delayed onset" RELATED [OMIM:102700] +synonym: "SCID due to ADA deficiency, delayed onset" RELATED [] synonym: "SCID due to ADA deficiency, early-onset" EXACT [OMIM:102700] -synonym: "SCID due to ADA deficiency, late-onset" RELATED [OMIM:102700] +synonym: "SCID due to ADA deficiency, late-onset" RELATED [] synonym: "SCID due to adenosine deaminase deficiency" EXACT [Orphanet:277] synonym: "severe combined immunodeficiency due to ADA deficiency" RELATED [GARD:0005748] -synonym: "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism" EXACT [OMIM:102700, OMIM:genemap2] +synonym: "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism" EXACT [] synonym: "severe combined immunodeficiency due to adenosine deaminase deficiency" RELATED [GARD:0005748] synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" EXACT [OMIM:102700] xref: CSP:1560-6660 {source="DOID:5810"} @@ -140982,7 +140993,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenosine triphosphatase deficiency anaemia" RELATED OMO:0003005 [] synonym: "adenosine triphosphatase deficiency anemia" RELATED [GARD:0000548] -synonym: "adenosine triphosphatase deficiency, anemia due to" EXACT [OMIM:102800] +synonym: "adenosine triphosphatase deficiency, anemia due to" EXACT [] synonym: "anaemia due to adenosine triphosphatase deficiency" RELATED OMO:0003005 [] synonym: "anemia due to adenosine triphosphatase deficiency" RELATED [GARD:0000548] xref: GARD:548 {source="MONDO:GARD"} @@ -141002,7 +141013,7 @@ def: "Autosomal dominant phenotype characterized by increase of red blood cell A subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenosine triphosphate, elevated, of erythrocytes" RELATED [OMIM:102900] +synonym: "adenosine triphosphate, elevated, of erythrocytes" RELATED [] synonym: "pyruvate kinase hyperactivity" EXACT [OMIM:102900] xref: EFO:0005840 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:350114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -141023,12 +141034,12 @@ subset: ordo_disorder {source="Orphanet:46"} subset: orphanet_rare {source="Orphanet:46"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenylosuccinase deficiency" EXACT [OMIM:103050, Orphanet:46] -synonym: "adenylosuccinase lyase deficiency" RELATED [DOID:0050762] -synonym: "adenylosuccinate lyase deficiency" EXACT CLINGEN_LABEL [OMIM:103050] -synonym: "ADSL deficiency" EXACT [Orphanet:46] -synonym: "Adsl deficiency" RELATED [OMIM:103050] -synonym: "ADSLD" RELATED ABBREVIATION [OMIM:103050] +synonym: "adenylosuccinase deficiency" EXACT [icd11.foundation:1725611919, OMIM:103050, Orphanet:46] +synonym: "adenylosuccinase lyase deficiency" RELATED [] +synonym: "adenylosuccinate lyase deficiency" EXACT CLINGEN_LABEL [icd11.foundation:1725611919, OMIM:103050, Orphanet:46] +synonym: "ADSL deficiency" EXACT [OMIM:103050, Orphanet:46] +synonym: "Adsl deficiency" RELATED [] +synonym: "ADSLD" RELATED ABBREVIATION [] synonym: "inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder" EXACT [] synonym: "inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity" EXACT [MONDO:patterns/inborn_metabolic] @@ -141069,12 +141080,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Adiposalgia" EXACT [Orphanet:36397] synonym: "adipose tissue rheumatism" EXACT [Orphanet:36397] -synonym: "adiposis dolorosa" EXACT [OMIM:103200] -synonym: "Dercum disease" EXACT [DOID:3928, OMIM:103200, Orphanet:36397] -synonym: "Dercum's Disease" EXACT [NORD:1046] -synonym: "Dercum's disease" EXACT [GARD:0005750] +synonym: "adiposis dolorosa" EXACT [DOID:3928, NCIT:C84540, OMIM:103200, Orphanet:36397] +synonym: "Dercum disease" EXACT [DOID:3928, NCIT:C84540, OMIM:103200, Orphanet:36397] +synonym: "Dercum's Disease" EXACT [NCIT:C84540, NORD:1046] +synonym: "Dercum's disease" EXACT [GARD:0005750, NCIT:C84540] synonym: "lipomatosis dolorosa" EXACT [Orphanet:36397] -synonym: "Neurolipomatosis" EXACT [Orphanet:36397] +synonym: "Neurolipomatosis" EXACT [] xref: DOID:3928 {source="MONDO:equivalentTo", source="EFO:1000667"} xref: EFO:1000667 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5750 {source="MONDO:GARD"} @@ -141099,7 +141110,7 @@ id: MONDO:0007071 name: adrenocortical hypofunction, chronic primary congenital subset: gard_rare {source="GARD:15033", source="MONDO:GARD"} subset: rare -synonym: "Addison disease, congenital" RELATED [OMIM:103230] +synonym: "Addison disease, congenital" RELATED [] synonym: "adrenocortical hypofunction, chronic primary congenital" EXACT [OMIM:103230] xref: GARD:15033 {source="MONDO:GARD"} xref: ICD9:255.41 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -141125,10 +141136,10 @@ subset: orphanet_rare {source="Orphanet:978"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acro dermato ungual lacrimal tooth syndrome" RELATED [GARD:0000384] -synonym: "acro-dermato-ungual-lacrimal-Tooth syndrome" RELATED [OMIM:103285] -synonym: "acro-dermato-ungual-lacrimal-tooth syndrome" EXACT [DOID:0050601, Orphanet:978] -synonym: "acrodermatounguallacrimaltooth syndrome" EXACT [Orphanet:978] -synonym: "ADULT syndrome" EXACT [OMIM:103285] +synonym: "acro-dermato-ungual-lacrimal-Tooth syndrome" RELATED [] +synonym: "acro-dermato-ungual-lacrimal-tooth syndrome" EXACT [DOID:0050601, icd11.foundation:1445741645, OMIM:103285, Orphanet:978] +synonym: "acrodermatounguallacrimaltooth syndrome" EXACT [] +synonym: "ADULT syndrome" EXACT [DOID:0050601, icd11.foundation:1445741645, OMIM:103285, Orphanet:978] synonym: "pigment anomaly-ectrodactyly-hypodontia syndrome" EXACT [Orphanet:978] xref: DOID:0050601 {source="MONDO:equivalentTo"} xref: GARD:384 {source="MONDO:GARD"} @@ -141171,16 +141182,16 @@ subset: orphanet_rare {source="Orphanet:989"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aglossia adactylia" RELATED [GARD:0000068] -synonym: "aglossia-adactylia" RELATED [OMIM:103300] +synonym: "aglossia-adactylia" RELATED [] synonym: "aglossia-adactylia syndrome" EXACT [Orphanet:989] -synonym: "Hanhart Syndrome" EXACT [NORD:1215] -synonym: "Hanhart syndrome" EXACT [OMIM:103300, Orphanet:989] -synonym: "Hypoglossia-hypodactylia" RELATED [OMIM:103300] +synonym: "Hanhart Syndrome" EXACT [NORD:1215, Orphanet:989] +synonym: "Hanhart syndrome" EXACT [Orphanet:989] +synonym: "Hypoglossia-hypodactylia" RELATED [] synonym: "Hypoglossia-hypodactylia syndrome" RELATED [GARD:0000068] synonym: "Jussieu syndrome" EXACT [Orphanet:989] -synonym: "oromandibular limb hypoplasia" RELATED [OMIM:103300] +synonym: "oromandibular limb hypoplasia" RELATED [] synonym: "peromelia with micrognathia" RELATED [GARD:0000068] -synonym: "peromelia with micrognathism" RELATED [OMIM:103300] +synonym: "peromelia with micrognathism" RELATED [] xref: GARD:68 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:989", source="Orphanet:989/attributed", source="Orphanet:989/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -141202,10 +141213,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007074 name: ainhum def: "Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation." [NCIT:P378] -synonym: "ainhum" EXACT [DOID:11329, MONDO:ambiguous, OMIM:103400] +synonym: "ainhum" EXACT [DOID:11329, ICD10CM:L94.6, icd11.foundation:1138885521, MONDO:ambiguous, NCIT:C84544, OMIM:103400] synonym: "ainhum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Dactylolysis" EXACT [NCIT:C84544] -synonym: "Dactylolysis spontanea" EXACT [DOID:11329] +synonym: "Dactylolysis spontanea" EXACT [DOID:11329, icd11.foundation:1138885521] synonym: "spontaneous dactylolysis" RELATED [GARD:0009512] xref: DOID:11329 {source="MONDO:equivalentTo"} xref: HP:0031009 {source="MONDO:otherHierarchy"} @@ -141232,9 +141243,9 @@ name: alacrima, congenital, autosomal dominant subset: gard_rare {source="GARD:18165", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "alacrima, congenital" RELATED [OMIM:103420] -synonym: "alacrimia congenita" RELATED [OMIM:103420] -synonym: "alacrimia congenita, autosomal dominant" RELATED [OMIM:103420] +synonym: "alacrima, congenital" RELATED [] +synonym: "alacrimia congenita" RELATED [] +synonym: "alacrimia congenita, autosomal dominant" RELATED [] xref: GARD:18165 {source="MONDO:GARD"} xref: MEDGEN:934803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566307 {source="MONDO:equivalentTo"} @@ -141263,12 +141274,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:42665"} subset: orphanet_rare {source="Orphanet:42665"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "albinism-deafness of Tietz" EXACT [DOID:0090002] +synonym: "albinism-deafness of Tietz" EXACT [DOID:0090002, OMIM:103500] synonym: "hypopigmentation-deafness syndrome" EXACT [Orphanet:42665] synonym: "hypopigmentation/deafness of Tietz" EXACT [DOID:0090002, OMIM:103500] -synonym: "TADS" RELATED ABBREVIATION [OMIM:103500] +synonym: "TADS" RELATED ABBREVIATION [] synonym: "Tietz albinism-deafness syndrome" EXACT [DOID:0090002, OMIM:103500] -synonym: "Tietz syndrome" EXACT [OMIM:103500] +synonym: "Tietz syndrome" EXACT [DOID:0090002, OMIM:103500, Orphanet:42665] xref: DOID:0090002 {source="MONDO:equivalentTo"} xref: GARD:7772 {source="MONDO:GARD"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -141295,16 +141306,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AHO" RELATED ABBREVIATION [GARD:0005770] synonym: "AHO-PHP syndrome Ia" EXACT [Orphanet:79443] -synonym: "Albright hereditary osteodystrophy" EXACT [GARD:0005770] -synonym: "Albright hereditary osteodystrophy with multiple hormone resistance" EXACT [NCIT:C129721] +synonym: "Albright hereditary osteodystrophy" EXACT [DOID:0080053, GARD:0005770] +synonym: "Albright hereditary osteodystrophy with multiple hormone resistance" EXACT [NCIT:C129721, OMIM:103580] synonym: "Albright hereditary osteodystrophy-PHP syndrome Ia" EXACT [Orphanet:79443] synonym: "Albright's hereditary osteodystrophy" EXACT [DOID:0080053] -synonym: "PHP 1A" RELATED [OMIM:103580] +synonym: "PHP 1A" RELATED [] synonym: "PHP1A" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C129721, OMIM:103580] -synonym: "Pseudohypoparathyroidism Ia" EXACT [OMIM:103580, OMIM:genemap2] -synonym: "Pseudohypoparathyroidism type 1A" EXACT [DOID:0080053, NCIT:C129721] -synonym: "Pseudohypoparathyroidism, type 1A" RELATED [OMIM:103580] -synonym: "Pseudohypoparathyroidism, type IA" RELATED [MONDO:Lexical, OMIM:103580] +synonym: "Pseudohypoparathyroidism Ia" EXACT [] +synonym: "Pseudohypoparathyroidism type 1A" EXACT [DOID:0080053, icd11.foundation:1513156369, NCIT:C129721, Orphanet:79443] +synonym: "Pseudohypoparathyroidism, type 1A" RELATED [] +synonym: "Pseudohypoparathyroidism, type IA" RELATED [MONDO:Lexical] xref: DOID:0080053 {source="MONDO:equivalentTo"} xref: GARD:7486 {source="MONDO:GARD"} xref: ICD10CM:E20.1 {source="Orphanet:79443/attributed", source="Orphanet:79443/ntbt", source="Orphanet:79443"} @@ -141337,11 +141348,11 @@ id: MONDO:0007079 name: alcohol dependence def: "Physical and psychological dependence on alcohol." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "aerodigestive tract cancer, squamous cell, alcohol-related, protection against" RELATED [OMIM:103780] -synonym: "alcohol dependence" EXACT [OMIM:103780] -synonym: "alcohol dependence, protection against" RELATED [OMIM:103780] -synonym: "alcohol dependence, susceptibility to" RELATED [OMIM:103780, OMIM:genemap2] -synonym: "alcoholism" EXACT [DOID:0050741] +synonym: "aerodigestive tract cancer, squamous cell, alcohol-related, protection against" RELATED [] +synonym: "alcohol dependence" EXACT [DOID:0050741, icd11.foundation:1580466198, NCIT:C93040, OMIM:103780] +synonym: "alcohol dependence, protection against" RELATED [] +synonym: "alcohol dependence, susceptibility to" RELATED [] +synonym: "alcoholism" EXACT [DOID:0050741, icd11.foundation:1580466198, OMIM:103780] xref: DOID:0050741 {source="MONDO:equivalentTo", source="EFO:0003829"} xref: icd11.foundation:1580466198 {source="MONDO:equivalentTo"} xref: ICD9:303.90 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -141373,25 +141384,25 @@ subset: ordo_disorder {source="Orphanet:403"} subset: orphanet_rare {source="Orphanet:403"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACTH-dependent hyperaldosteronism syndrome" RELATED [OMIM:103900] -synonym: "aldosteronism, glucocorticoid-remediable" EXACT [OMIM:103900, OMIM:genemap2] -synonym: "aldosteronism, sensitive to dexamethasone" RELATED [OMIM:103900] +synonym: "ACTH-dependent hyperaldosteronism syndrome" RELATED [] +synonym: "aldosteronism, glucocorticoid-remediable" EXACT [] +synonym: "aldosteronism, sensitive to dexamethasone" RELATED [] synonym: "dexamethasone sensitive hypertension" RELATED [GARD:0002790] synonym: "dexamethasone-sensitive hypertension" EXACT [Orphanet:403] synonym: "familial hyperaldosteronism type 1" EXACT [Orphanet:403] -synonym: "familial hyperaldosteronism type I" RELATED [Orphanet:403] -synonym: "FH 1" RELATED [OMIM:103900] -synonym: "FH-I" EXACT [Orphanet:403] +synonym: "familial hyperaldosteronism type I" RELATED [] +synonym: "FH 1" RELATED [] +synonym: "FH-I" EXACT ABBREVIATION [Orphanet:403] synonym: "FH1" EXACT ABBREVIATION [Orphanet:403] synonym: "glucocorticoid sensitive hypertension" RELATED [GARD:0002790] -synonym: "glucocorticoid-remediable aldosteronism" EXACT [MONDO:Lexical, OMIM:103900, Orphanet:403] +synonym: "glucocorticoid-remediable aldosteronism" EXACT [DOID:14080, ICD10CM:E26.02, MONDO:Lexical, OMIM:103900, Orphanet:403] synonym: "glucocorticoid-sensitive hypertension" EXACT [Orphanet:403] -synonym: "glucocorticoid-suppressible hyperaldosteronism" RELATED [OMIM:103900] -synonym: "GRA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:103900, Orphanet:403] -synonym: "HALD1" RELATED ABBREVIATION [OMIM:103900] +synonym: "glucocorticoid-suppressible hyperaldosteronism" RELATED [] +synonym: "GRA" EXACT ABBREVIATION [DOID:14080, MONDO:Lexical, Orphanet:403] +synonym: "HALD1" RELATED ABBREVIATION [] synonym: "hyperaldosteronism, familial type 1" RELATED [GARD:0002790] -synonym: "hyperaldosteronism, familial, type 1" RELATED [OMIM:103900] -synonym: "hyperaldosteronism, familial, type I" RELATED [OMIM:103900] +synonym: "hyperaldosteronism, familial, type 1" RELATED [] +synonym: "hyperaldosteronism, familial, type I" RELATED [] xref: DOID:14080 {source="MONDO:equivalentTo"} xref: GARD:2790 {source="MONDO:GARD"} xref: ICD10CM:E26.0 {source="Orphanet:403", source="Orphanet:403/attributed", source="Orphanet:403/ntbt"} @@ -141421,9 +141432,9 @@ name: alopecia areata 1 subset: gard_rare {source="GARD:15035", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104000] +synonym: "AA1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "alopecia areata 1" EXACT [MONDO:Lexical, OMIM:104000] -synonym: "alopecia universalis" RELATED [OMIM:104000] +synonym: "alopecia universalis" RELATED [] xref: GARD:15035 {source="MONDO:GARD"} xref: MEDGEN:400208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566303 {source="MONDO:equivalentTo"} @@ -141445,15 +141456,15 @@ subset: orphanet_rare {source="Orphanet:1010"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alopecia congenita with hyperkeratosis of the palms and soles" RELATED [GARD:0000604] -synonym: "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" EXACT [Orphanet:1010] -synonym: "keratoderma-hypotrichosis-leukonychia totalis syndrome" RELATED [OMIM:104100] -synonym: "palmoplantar keratoderma and congenital alopecia 1" RELATED [MONDO:Lexical, OMIM:104100] -synonym: "palmoplantar keratoderma and congenital alopecia type 1" EXACT [MONDORULE:1, OMIM:104100] -synonym: "palmoplantar keratoderma and congenital alopecia, Stevanovic type" EXACT [Orphanet:1010] -synonym: "palmoplantar keratoderma with congenital alopecia" EXACT [OMIM:104100, OMIM:genemap2] -synonym: "PPK-CA, Stevanovic type" EXACT [Orphanet:1010] -synonym: "Ppkca, Stevanovic type" RELATED [OMIM:104100] -synonym: "PPKCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104100] +synonym: "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" EXACT [DOID:0111244, Orphanet:1010] +synonym: "keratoderma-hypotrichosis-leukonychia totalis syndrome" RELATED [] +synonym: "palmoplantar keratoderma and congenital alopecia 1" RELATED [MONDO:Lexical] +synonym: "palmoplantar keratoderma and congenital alopecia type 1" EXACT [MONDORULE:1] +synonym: "palmoplantar keratoderma and congenital alopecia, Stevanovic type" EXACT [DOID:0111244, Orphanet:1010] +synonym: "palmoplantar keratoderma with congenital alopecia" EXACT [] +synonym: "PPK-CA, Stevanovic type" EXACT [DOID:0111244, Orphanet:1010] +synonym: "Ppkca, Stevanovic type" RELATED [] +synonym: "PPKCA1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111244 {source="MONDO:equivalentTo"} xref: GARD:604 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:1010", source="Orphanet:1010/attributed", source="Orphanet:1010/ntbt"} @@ -141475,7 +141486,7 @@ name: familial focal alopecia subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "alopecia, familial focal" EXACT [MONDO:Lexical, OMIM:104110] -synonym: "ALPF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104110] +synonym: "ALPF" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:350835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566301 {source="MONDO:equivalentTo"} xref: OMIM:104110 {source="MONDO:equivalentTo"} @@ -141494,7 +141505,7 @@ subset: orphanet_rare {source="Orphanet:1008"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alopecia, epilepsy, pyorrhea, mental subnormality" RELATED [GARD:0000607] -synonym: "alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality" RELATED [OMIM:104130] +synonym: "alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality" RELATED [] synonym: "congenital universal alopecia, epilepsy, mental subnormality and pyorrhea" RELATED [GARD:0000607] synonym: "Shokeir syndrome" EXACT [OMIM:104130, Orphanet:1008] xref: GARD:607 {source="MONDO:GARD"} @@ -141523,9 +141534,9 @@ subset: ordo_etiological_subtype {source="Orphanet:88918"} subset: ordo_subtype_of_a_disorder {source="Orphanet:88918"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alport syndrome 3, autosomal dominant" EXACT [OMIM:104200, OMIM:genemap2] +synonym: "Alport syndrome 3, autosomal dominant" EXACT [] synonym: "Alport syndrome dominant type" RELATED [GARD:0000624] -synonym: "Alport syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:104200] +synonym: "Alport syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "renal failure and sensorineural hearing loss" RELATED [GARD:0000624] xref: DOID:0110032 {source="MONDO:equivalentTo"} xref: GARD:624 {source="MONDO:GARD"} @@ -141552,10 +141563,10 @@ name: alternating hemiplegia of childhood 1 def: "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15036", source="MONDO:GARD"} subset: rare -synonym: "AHC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:104290] +synonym: "AHC1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "alternating hemiplegia of childhood 1" EXACT [MONDO:Lexical, OMIM:104290] synonym: "alternating hemiplegia of childhood caused by mutation in ATP1A2" EXACT [MONDO:design_pattern] -synonym: "alternating hemiplegia of childhood type 1" EXACT [MONDORULE:1, OMIM:104290] +synonym: "alternating hemiplegia of childhood type 1" EXACT [MONDORULE:1] synonym: "ATP1A2 alternating hemiplegia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15036 {source="MONDO:GARD"} xref: MEDGEN:762361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -141572,18 +141583,18 @@ id: MONDO:0007088 name: Alzheimer disease type 1 subset: gard_rare {source="GARD:9465", source="MONDO:GARD"} subset: rare -synonym: "AD" RELATED ABBREVIATION [OMIM:104300] +synonym: "AD" RELATED ABBREVIATION [] synonym: "AD1" RELATED ABBREVIATION [GARD:0009465] -synonym: "Alzheimer disease" RELATED [OMIM:104300] +synonym: "Alzheimer disease" RELATED [] synonym: "Alzheimer disease 1" RELATED [GARD:0009465] -synonym: "Alzheimer disease 1, familial" EXACT [OMIM:104300, OMIM:genemap2] -synonym: "Alzheimer disease, early-onset, with cerebral amyloid angiopathy" RELATED [OMIM:104300] -synonym: "Alzheimer disease, familial, 1" RELATED [OMIM:104300] -synonym: "Alzheimer disease, late-onset, susceptibility to" RELATED [OMIM:104300, OMIM:genemap2] -synonym: "Alzheimer disease, protection against" RELATED [OMIM:104300] -synonym: "Alzheimer disease, susceptibility to" RELATED [OMIM:104300, OMIM:genemap2] +synonym: "Alzheimer disease 1, familial" EXACT [] +synonym: "Alzheimer disease, early-onset, with cerebral amyloid angiopathy" RELATED [] +synonym: "Alzheimer disease, familial, 1" RELATED [] +synonym: "Alzheimer disease, late-onset, susceptibility to" RELATED [] +synonym: "Alzheimer disease, protection against" RELATED [] +synonym: "Alzheimer disease, susceptibility to" RELATED [] synonym: "early-onset familial form of Alzheimer disease" BROAD [GARD:0009465] -synonym: "presenile and senile dementia" RELATED [OMIM:104300] +synonym: "presenile and senile dementia" RELATED [] xref: DECIPHER:48 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:relatedTo"} xref: DOID:0080348 {source="MONDO:equivalentTo"} xref: GARD:9465 {source="MONDO:GARD"} @@ -141609,13 +141620,13 @@ subset: rare synonym: "AD2" EXACT ABBREVIATION [DOID:0110035, OMIM:104310] synonym: "Alzheimer disease 2" EXACT [OMIM:104310] synonym: "Alzheimer disease 2, late onset" EXACT [DOID:0110035] -synonym: "Alzheimer disease 2, late-onset" RELATED [OMIM:104310] +synonym: "Alzheimer disease 2, late-onset" RELATED [] synonym: "Alzheimer disease associated with APOE E4" EXACT [GARD:0009467] synonym: "Alzheimer disease associated with APOE4" EXACT [DOID:0110035, OMIM:104310] -synonym: "Alzheimer disease type 2" EXACT [GARD:0012799, MONDORULE:1, OMIM:104310] +synonym: "Alzheimer disease type 2" EXACT [GARD:0012799, MONDORULE:1] synonym: "Alzheimer disease-2" EXACT [DOID:0110035] -synonym: "Alzheimer's disease 2" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 2" EXACT [DOID:0110035, MONDORULE:1] +synonym: "Alzheimer's disease 2" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110035, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 2" EXACT [MONDORULE:1] synonym: "late onset Alzheimer disease" EXACT [GARD:0009467] synonym: "late onset familial Alzheimer disease" EXACT [GARD:0009467] synonym: "late-onset familial alzheimer disease" EXACT [MONDO:0100088] @@ -141663,18 +141674,18 @@ def: "Any amelogenesis imperfecta in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15037", source="MONDO:GARD"} subset: rare synonym: "AI1B" EXACT ABBREVIATION [DOID:0110052, MONDO:Lexical, OMIM:104500] -synonym: "AIH2" RELATED ABBREVIATION [DOID:0110052, OMIM:104500] +synonym: "AIH2" RELATED ABBREVIATION [] synonym: "amelogenesis imperfecta caused by mutation in ENAM" EXACT [] synonym: "amelogenesis imperfecta caused by mutation in enam" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta type IB" EXACT [DOID:0110052] -synonym: "amelogenesis imperfecta, hypoplastic local, autosomal dominant" RELATED [OMIM:104500] -synonym: "amelogenesis imperfecta, type 1B" RELATED [OMIM:104500] -synonym: "amelogenesis imperfecta, type IB" RELATED [MONDO:Lexical, OMIM:104500] +synonym: "amelogenesis imperfecta, hypoplastic local, autosomal dominant" RELATED [] +synonym: "amelogenesis imperfecta, type 1B" RELATED [] +synonym: "amelogenesis imperfecta, type IB" RELATED [MONDO:Lexical] synonym: "autosomal dominant hypoplastic local amelogenesis imperfecta" EXACT [DOID:0110052] synonym: "ENAM amelogenesis imperfecta" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "enam amelogenesis imperfecta" EXACT [MONDO:design_pattern] synonym: "enamel hypoplasia, hereditary localised" RELATED OMO:0003005 [] -synonym: "enamel hypoplasia, hereditary localized" RELATED [OMIM:104500] +synonym: "enamel hypoplasia, hereditary localized" RELATED [] synonym: "hereditary localised enamel hypoplasia" EXACT OMO:0003005 [] synonym: "hereditary localized enamel hypoplasia" EXACT [DOID:0110052] xref: DOID:0110052 {source="MONDO:equivalentTo"} @@ -141709,10 +141720,10 @@ synonym: "AI4" EXACT ABBREVIATION [DOID:0110053, MONDO:Lexical, OMIM:104510] synonym: "AIHHT" EXACT ABBREVIATION [DOID:0110053] synonym: "amelogenesis imperfecta caused by mutation in DLX3" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism" EXACT [DOID:0110053] -synonym: "amelogenesis imperfecta type 4" EXACT [Orphanet:100034] -synonym: "amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism" RELATED [OMIM:104510] -synonym: "amelogenesis imperfecta, type 4" RELATED [OMIM:104510] -synonym: "amelogenesis imperfecta, type IV" RELATED [MONDO:Lexical, OMIM:104510] +synonym: "amelogenesis imperfecta type 4" EXACT [DOID:0110053, Orphanet:100034] +synonym: "amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism" RELATED [] +synonym: "amelogenesis imperfecta, type 4" RELATED [] +synonym: "amelogenesis imperfecta, type IV" RELATED [MONDO:Lexical] synonym: "DLX3 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110053 {source="MONDO:equivalentTo"} xref: GARD:16932 {source="MONDO:GARD"} @@ -141740,9 +141751,9 @@ synonym: "amelogenesis imperfecta caused by mutation in LAMB3" EXACT [MONDO:desi synonym: "amelogenesis imperfecta hypoplastic type IA" EXACT [DOID:0110054] synonym: "amelogenesis imperfecta local hypoplastic" RELATED [GARD:0000645] synonym: "amelogenesis imperfecta type IA" EXACT [DOID:0110054] -synonym: "amelogenesis imperfecta, hypoplastic type 1A" RELATED [OMIM:104530] -synonym: "amelogenesis imperfecta, type 1A" RELATED [OMIM:104530] -synonym: "amelogenesis imperfecta, type IA" RELATED [MONDO:Lexical, OMIM:104530] +synonym: "amelogenesis imperfecta, hypoplastic type 1A" RELATED [] +synonym: "amelogenesis imperfecta, type 1A" RELATED [] +synonym: "amelogenesis imperfecta, type IA" RELATED [MONDO:Lexical] synonym: "LAMB3 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "local hypoplastic amelogenesis imperfecta" RELATED [GARD:0000645] xref: DOID:0110054 {source="MONDO:equivalentTo"} @@ -141772,7 +141783,7 @@ subset: orphanet_rare {source="Orphanet:1028"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "amelo-onycho-hypohidrotic syndrome" RELATED [ISBN-13:978-88-470-0687-4] -synonym: "ameloonychohypohidrotic syndrome" EXACT [OMIM:104570] +synonym: "ameloonychohypohidrotic syndrome" EXACT [OMIM:104570, Orphanet:1028] synonym: "hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis" RELATED [GARD:0000647] xref: GARD:647 {source="MONDO:GARD"} xref: ICD10CM:Q82.4 {source="Orphanet:1028", source="Orphanet:1028/attributed", source="Orphanet:1028/ntbt"} @@ -141806,23 +141817,23 @@ subset: ordo_disorder {source="Orphanet:85448"} subset: orphanet_rare {source="Orphanet:85448"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AGel amyloidosis" RELATED [Orphanet:85448] -synonym: "amyloid cranial neuropathy with lattice corneal dystrophy" RELATED [OMIM:105120] -synonym: "amyloidosis 5" RELATED [OMIM:105120] -synonym: "amyloidosis due to mutant gelsolin" RELATED [OMIM:105120] +synonym: "AGel amyloidosis" RELATED [] +synonym: "amyloid cranial neuropathy with lattice corneal dystrophy" RELATED [] +synonym: "amyloidosis 5" RELATED [] +synonym: "amyloidosis due to mutant gelsolin" RELATED [] synonym: "amyloidosis V" RELATED [GARD:0002339] -synonym: "amyloidosis, Finnish type" RELATED [OMIM:105120] -synonym: "amyloidosis, MERETOJA type" EXACT [DOID:0050637] -synonym: "amyloidosis, Meretoja type" RELATED [OMIM:105120] -synonym: "cerebral amyloid angiopathy, Gsn-related" RELATED [OMIM:105120] -synonym: "corneal dystrophy, lattice type 2" RELATED [OMIM:105120] +synonym: "amyloidosis, Finnish type" RELATED [] +synonym: "amyloidosis, MERETOJA type" EXACT [DOID:0050637, OMIM:105120] +synonym: "amyloidosis, Meretoja type" RELATED [] +synonym: "cerebral amyloid angiopathy, Gsn-related" RELATED [] +synonym: "corneal dystrophy, lattice type 2" RELATED [] synonym: "familial amyloid polyneuropathy type IV" EXACT [Orphanet:85448] synonym: "familial amyloidosis, Finnish type" EXACT [Orphanet:85448] -synonym: "gelsolin amyloidosis" EXACT [Orphanet:85448] +synonym: "gelsolin amyloidosis" EXACT [DOID:0050637, Orphanet:85448] synonym: "hereditary amyloidosis, Finnish type" EXACT [Orphanet:85448] synonym: "hereditary gelsolin amyloidosis" RELATED [GARD:0002339] synonym: "lattice corneal dystrophy type II Finnish" RELATED [GARD:0002339] -synonym: "lattice corneal dystrophy, type 2" RELATED [OMIM:105120] +synonym: "lattice corneal dystrophy, type 2" RELATED [] synonym: "meretoja syndrome" EXACT [] synonym: "meretoja type amyloidosis" RELATED [] xref: DOID:0050637 {source="MONDO:equivalentTo"} @@ -141853,20 +141864,20 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:100008"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amyloidosis 6" RELATED [OMIM:105150] +synonym: "amyloidosis 6" RELATED [] synonym: "amyloidosis VI" EXACT [DOID:0070027] -synonym: "amyloidosis, Cerebroarterial, Icelandic type" EXACT [DOID:0070027] -synonym: "cerebral amyloid angiopathy" BROAD [OMIM:105150, OMIM:genemap2] -synonym: "cerebral amyloid angiopathy, CST3-related" RELATED [OMIM:105150] -synonym: "cerebral hemorrhage, hereditary, with amyloidosis" EXACT [DOID:0070027, OMIM:105150] +synonym: "amyloidosis, Cerebroarterial, Icelandic type" EXACT [DOID:0070027, OMIM:105150] +synonym: "cerebral amyloid angiopathy" BROAD [] +synonym: "cerebral amyloid angiopathy, CST3-related" RELATED [] +synonym: "cerebral hemorrhage, hereditary, with amyloidosis" EXACT [OMIM:105150] synonym: "CST3-related amyloidosis" EXACT [Orphanet:100008] -synonym: "CST3-related cerebral amyloid angiopathy" RELATED [DOID:0070027] +synonym: "CST3-related cerebral amyloid angiopathy" RELATED [] synonym: "cystatin amyloidosis" EXACT [Orphanet:100008] -synonym: "HCHWA" RELATED EXCLUDE [DOID:0070027] +synonym: "HCHWA" RELATED EXCLUDE [] synonym: "HCHWA, Icelandic type" EXACT [Orphanet:100008] synonym: "hereditary cerebral haemorrhage with amyloidosis" EXACT OMO:0003005 [] synonym: "hereditary cerebral haemorrhage with amyloidosis, Icelandic type" EXACT OMO:0003005 [] -synonym: "hereditary cerebral hemorrhage with amyloidosis" EXACT [DOID:0070027, OMIM:105150] +synonym: "hereditary cerebral hemorrhage with amyloidosis" EXACT [OMIM:105150] synonym: "hereditary cerebral hemorrhage with amyloidosis, Icelandic type" EXACT [Orphanet:100008] synonym: "hereditary cystatin C amyloid angiopathy" EXACT [Orphanet:100008] xref: DOID:0070027 {source="MONDO:equivalentTo"} @@ -141894,17 +141905,17 @@ subset: ordo_disorder {source="Orphanet:85450"} subset: orphanet_rare {source="Orphanet:85450"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amyloidosis 8" RELATED [OMIM:105200] +synonym: "amyloidosis 8" RELATED [] synonym: "amyloidosis familial renal" RELATED [GARD:0008282] synonym: "amyloidosis familial visceral" RELATED [GARD:0008282] synonym: "amyloidosis systemic nonneuropathic" RELATED [GARD:0008282] synonym: "amyloidosis VIII" RELATED [GARD:0008282] -synonym: "amyloidosis, 3 or more types" EXACT [OMIM:105200, OMIM:genemap2] -synonym: "amyloidosis, familial renal" EXACT [DOID:0050636] -synonym: "amyloidosis, familial visceral" RELATED [OMIM:105200] +synonym: "amyloidosis, 3 or more types" EXACT [] +synonym: "amyloidosis, familial renal" EXACT [DOID:0050636, OMIM:105200] +synonym: "amyloidosis, familial visceral" RELATED [] synonym: "amyloidosis, Ostertag type" EXACT [Orphanet:85450] -synonym: "amyloidosis, renal" EXACT [OMIM:105200, OMIM:genemap2] -synonym: "amyloidosis, systemic Nonneuropathic" RELATED [OMIM:105200] +synonym: "amyloidosis, renal" EXACT [] +synonym: "amyloidosis, systemic Nonneuropathic" RELATED [] synonym: "familial amyloid nephropathy" EXACT [Orphanet:85450] synonym: "familial renal amyloidosis" EXACT [Orphanet:85450] synonym: "German type amyloidosis" EXACT [DOID:0050636, OMIM:105200] @@ -141947,17 +141958,17 @@ synonym: "amyloid neuropathies, familial" EXACT [NCIT:C84554] synonym: "amyloidosis, hereditary, transthyretin-related" EXACT [DOID:0050638] synonym: "ATTRv amyloidosis" EXACT [Orphanet:271861] synonym: "Corino de Andrade's disease" EXACT [DOID:0050638] -synonym: "familial amyloid neuropathy" EXACT CLINGEN_LABEL [] -synonym: "familial amyloid polyneuropathy" EXACT [DOID:0050638] +synonym: "familial amyloid neuropathy" EXACT CLINGEN_LABEL [NCIT:C84554] +synonym: "familial amyloid polyneuropathy" EXACT [DOID:0050638, icd11.foundation:807065795, NCIT:C84554] synonym: "familial transthyretin amyloidosis" EXACT [DOID:0050638] synonym: "familial transthyretin-related amyloidosis" EXACT [Orphanet:271861] synonym: "familial TTR-related amyloidosis" EXACT [Orphanet:271861] synonym: "hATTR" EXACT ABBREVIATION [Orphanet:271861] -synonym: "hereditary amyloidosis, transthyretin-related" RELATED [OMIM:105210] +synonym: "hereditary amyloidosis, transthyretin-related" RELATED [] synonym: "hereditary transthyretin amyloid polyneuropathy" EXACT [Orphanet:271861] synonym: "hereditary TTR amyloid polyneuropathy" EXACT [Orphanet:271861] synonym: "hereditary TTR amyloidosis" EXACT [Orphanet:271861] -synonym: "paramyloidosis" EXACT [https://globalgenes.org/raredaily/today-is-paramyloidosis-observanc-day/] +synonym: "paramyloidosis" EXACT [DOID:0050638, https://globalgenes.org/raredaily/today-is-paramyloidosis-observanc-day/, icd11.foundation:807065795] synonym: "transthyretin-related hereditary amyloidosis" EXACT [DOID:0050638] synonym: "TTR amyloidosis" EXACT [DOID:0050638] xref: DOID:0050638 {source="MONDO:equivalentTo"} @@ -142032,16 +142043,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ALS1" EXACT ABBREVIATION [DOID:0060193, MESH:C531617, MONDO:Lexical, OMIM:105400] synonym: "amyotrophic lateral sclerosis 1" EXACT [DOID:0060193, MONDO:Lexical, OMIM:105400] -synonym: "amyotrophic lateral sclerosis 1, autosomal dominant" RELATED [OMIM:105400] +synonym: "amyotrophic lateral sclerosis 1, autosomal dominant" RELATED [] synonym: "amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included" RELATED [MESH:C531617] -synonym: "amyotrophic lateral sclerosis 1, autosomal recessive" RELATED [OMIM:105400] -synonym: "amyotrophic lateral sclerosis 1, familial" RELATED [MESH:C531617, OMIM:105400] -synonym: "amyotrophic lateral sclerosis type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:105400] +synonym: "amyotrophic lateral sclerosis 1, autosomal recessive" RELATED [] +synonym: "amyotrophic lateral sclerosis 1, familial" RELATED [MESH:C531617] +synonym: "amyotrophic lateral sclerosis type 1" EXACT CLINGEN_LABEL [DOID:0060193, MONDORULE:1] synonym: "amyotrophic lateral sclerosis, autosomal dominant" RELATED [MESH:C531617] synonym: "amyotrophic lateral sclerosis, familial" RELATED [MESH:C531617] -synonym: "amyotrophic lateral sclerosis, sporadic" RELATED [MESH:C531617, OMIM:105400] +synonym: "amyotrophic lateral sclerosis, sporadic" RELATED [MESH:C531617] synonym: "amyotrophic lateral sclerosis, sporadic, included" RELATED [MESH:C531617] -synonym: "amyotrophic lateral sclerosis, susceptibility to" RELATED [OMIM:105400, OMIM:genemap2] +synonym: "amyotrophic lateral sclerosis, susceptibility to" RELATED [] synonym: "FALS" RELATED ABBREVIATION [MESH:C531617] xref: DOID:0060193 {source="MONDO:equivalentTo"} xref: ICD10CM:G12.2 {source="DOID:0060193"} @@ -142065,18 +142076,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:90020"} subset: orphanet_rare {source="Orphanet:90020"} subset: rare -synonym: "ALS-pDC" RELATED [OMIM:105500] +synonym: "ALS-pDC" RELATED [] synonym: "amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam" RELATED [GARD:0009239] -synonym: "amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome" EXACT [Orphanet:90020] -synonym: "amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1" RELATED [OMIM:105500] -synonym: "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam" RELATED [OMIM:105500] -synonym: "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1" EXACT [MONDORULE:1, OMIM:105500] -synonym: "amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to" RELATED [OMIM:105500, OMIM:genemap2] -synonym: "Guam disease" EXACT [OMIM:105500, Orphanet:90020] -synonym: "Lytico-Bodig disease" EXACT [Orphanet:90020] +synonym: "amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome" EXACT [DOID:0111246] +synonym: "amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1" RELATED [] +synonym: "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam" RELATED [] +synonym: "amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1" EXACT [MONDORULE:1] +synonym: "amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to" RELATED [] +synonym: "Guam disease" EXACT [DOID:0111246, OMIM:105500, Orphanet:90020] +synonym: "Lytico-Bodig disease" EXACT [DOID:0111246, Orphanet:90020] synonym: "Lytigo-Bodig disease" EXACT [https://doi.org/10.1016/S0140-6736(00)02672-6] -synonym: "Parkinsonism-dementia-ALS complex" EXACT [Orphanet:90020] -synonym: "PDALS" EXACT ABBREVIATION [Orphanet:90020] +synonym: "Parkinsonism-dementia-ALS complex" EXACT [DOID:0111246] +synonym: "PDALS" EXACT ABBREVIATION [DOID:0111246] xref: DOID:0111246 {source="MONDO:equivalentTo"} xref: GARD:9239 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:90020", source="MONDO:relatedTo", source="Orphanet:90020/ntbt"} @@ -142100,18 +142111,18 @@ subset: gard_rare {source="GARD:18396", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALSFTD" EXACT ABBREVIATION [DOID:0060213, OMIM:105550] +synonym: "ALSFTD" EXACT ABBREVIATION [DOID:0060213] synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT [DOID:0060213, OMIM:105550] synonym: "C9ORF72 frontotemporal dementia with motor neuron disease" EXACT [MONDO:design_pattern] synonym: "C9orf72 frontotemporal dementia with motor neuron disease" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis" RELATED [OMIM:105550] -synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" EXACT CLINGEN_LABEL [DOID:0060213, MONDO:Lexical, OMIM:105550] -synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 1" EXACT [MONDORULE:1, OMIM:105550] +synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis" RELATED [] +synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" EXACT CLINGEN_LABEL [DOID:0060213, MONDO:Lexical, NCIT:C168756, OMIM:105550] +synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 1" EXACT [MONDORULE:1] synonym: "frontotemporal dementia and/or motor neuron disease" EXACT [DOID:0060213, OMIM:105550] synonym: "frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72" EXACT [MONDO:design_pattern] synonym: "frontotemporal dementia with motor neuron disease caused by mutation in C9orf72" EXACT [] -synonym: "FTDALS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105550] -synonym: "FTDMND" EXACT ABBREVIATION [DOID:0060213, OMIM:105550] +synonym: "FTDALS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "FTDMND" EXACT ABBREVIATION [DOID:0060213] xref: DOID:0060213 {source="MONDO:equivalentTo"} xref: GARD:18396 {source="MONDO:GARD"} xref: MEDGEN:1830423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -142131,7 +142142,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007106 name: anal sphincter dysplasia synonym: "anal sphincter dysplasia" EXACT [MONDO:Lexical, OMIM:105563] -synonym: "ASDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105563] +synonym: "ASDP" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:350794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538254 {source="MONDO:equivalentTo"} xref: OMIM:105563 {source="MONDO:equivalentTo"} @@ -142143,7 +142154,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9822/anal-sp id: MONDO:0007107 name: anal sphincter myopathy, internal synonym: "anal sphincter myopathy, internal" EXACT [OMIM:105565] -synonym: "proctalgia fugax due to anal sphincter myopathy" RELATED [OMIM:105565] +synonym: "proctalgia fugax due to anal sphincter myopathy" RELATED [] xref: MEDGEN:349633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566287 {source="MONDO:equivalentTo"} xref: OMIM:105565 {source="MONDO:equivalentTo"} @@ -142161,11 +142172,11 @@ subset: ordo_group_of_disorders {source="Orphanet:424013"} subset: rare synonym: "anal canal and perianal gland cancer" EXACT [NCIT:C7489] synonym: "anal canal and perianal gland carcinoma" EXACT [DOID:6126, NCIT:C7489] -synonym: "anal canal cancer" BROAD [NCIT:C7489] -synonym: "anal canal carcinoma" EXACT [MONDO:patterns/location, NCIT:C7489, OMIM:105580] -synonym: "carcinoma of anal canal" EXACT [DOID:6126, MONDO:patterns/carcinoma] -synonym: "carcinoma of the anal canal" EXACT [MONDO:0018517] -synonym: "cloacogenic carcinoma" RELATED [OMIM:105580] +synonym: "anal canal cancer" BROAD [] +synonym: "anal canal carcinoma" EXACT [DOID:6126, MONDO:patterns/location, NCIT:C7489, OMIM:105580] +synonym: "carcinoma of anal canal" EXACT [MONDO:patterns/carcinoma] +synonym: "carcinoma of the anal canal" EXACT [MONDO:0018517, Orphanet:424013] +synonym: "cloacogenic carcinoma" RELATED [] xref: DOID:6126 {source="MONDO:equivalentTo"} xref: GARD:21772 {source="MONDO:GARD"} xref: MEDGEN:107559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -142192,18 +142203,18 @@ subset: orphanet_rare {source="Orphanet:98870"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anaemia with multinucleated erythroblasts" RELATED OMO:0003005 [] -synonym: "anemia with multinucleated erythroblasts" RELATED [OMIM:105600] -synonym: "anemia, congenital dyserythropoietic, type III" RELATED [MONDO:Lexical, OMIM:105600] -synonym: "CDA 3" RELATED [OMIM:105600] -synonym: "CDA III" EXACT [Orphanet:98870] -synonym: "CDA type 3" EXACT [Orphanet:98870] -synonym: "CDA type III" EXACT [Orphanet:98870] -synonym: "CDAN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105600] -synonym: "congenital dyserythropoietic anemia type 3" EXACT [Orphanet:98870] +synonym: "anemia with multinucleated erythroblasts" RELATED [] +synonym: "anemia, congenital dyserythropoietic, type III" RELATED [MONDO:Lexical] +synonym: "CDA 3" RELATED [] +synonym: "CDA III" EXACT ABBREVIATION [DOID:0111399, Orphanet:98870] +synonym: "CDA type 3" EXACT [DOID:0111399, Orphanet:98870] +synonym: "CDA type III" EXACT [DOID:0111399, Orphanet:98870] +synonym: "CDAN3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "congenital dyserythropoietic anemia type 3" EXACT [DOID:0111399, Orphanet:98870] synonym: "dyserythropoietic anemia, congenital type 3" RELATED [GARD:0002002] -synonym: "dyserythropoietic Anemia, congenital, type 3" RELATED [OMIM:105600] -synonym: "dyserythropoietic anemia, congenital, type III" EXACT [OMIM:105600, OMIM:genemap2] -synonym: "Erythroreticulosis, hereditary benign" RELATED [OMIM:105600] +synonym: "dyserythropoietic Anemia, congenital, type 3" RELATED [] +synonym: "dyserythropoietic anemia, congenital, type III" EXACT [] +synonym: "Erythroreticulosis, hereditary benign" RELATED [] xref: DOID:0111399 {source="MONDO:equivalentTo"} xref: GARD:2002 {source="MONDO:GARD"} xref: ICD10CM:D64.4 {source="Orphanet:98870/attributed", source="Orphanet:98870/ntbt", source="Orphanet:98870"} @@ -142227,21 +142238,21 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15039", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Aase syndrome" RELATED [OMIM:105650] -synonym: "Aase-Smith syndrome 2" RELATED [OMIM:105650] -synonym: "anemia, congenital erythroid hypoplastic" RELATED [OMIM:105650] -synonym: "anemia, congenital hypoplastic, of Blackfan and Diamond" RELATED [OMIM:105650] -synonym: "aregenerative Anemia, chronic congenital" RELATED [OMIM:105650] -synonym: "Blackfan-Diamond syndrome" RELATED [OMIM:105650] -synonym: "DBA" BROAD ABBREVIATION [OMIM:105650] -synonym: "DBA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105650] +synonym: "Aase syndrome" RELATED [] +synonym: "Aase-Smith syndrome 2" RELATED [] +synonym: "anemia, congenital erythroid hypoplastic" RELATED [] +synonym: "anemia, congenital hypoplastic, of Blackfan and Diamond" RELATED [] +synonym: "aregenerative Anemia, chronic congenital" RELATED [] +synonym: "Blackfan-Diamond syndrome" RELATED [] +synonym: "DBA" BROAD ABBREVIATION [] +synonym: "DBA1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS19" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 1" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:105650] +synonym: "Diamond-Blackfan anemia 1" EXACT CLINGEN_LABEL [DOID:0111895, MONDO:Lexical, NCIT:C176911, OMIM:105650] synonym: "Diamond-Blackfan anemia caused by mutation in RPS19" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 1" EXACT [MONDORULE:1, OMIM:105650] -synonym: "erythrogenesis imperfecta" RELATED [OMIM:105650] -synonym: "Red cell aplasia, Pure, hereditary" RELATED [OMIM:105650] +synonym: "Diamond-Blackfan Anemia type 1" EXACT [MONDORULE:1] +synonym: "erythrogenesis imperfecta" RELATED [] +synonym: "Red cell aplasia, Pure, hereditary" RELATED [] synonym: "RPS19 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS19 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111895 {source="MONDO:equivalentTo"} @@ -142263,8 +142274,8 @@ name: aneurysm, intracranial berry type 1 subset: gard_rare {source="GARD:18320", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, intracranial berry, 1" RELATED [MONDO:Lexical, OMIM:105800] -synonym: "aneurysmal subarachnoid hemorrhage, familial" RELATED [OMIM:105800] +synonym: "aneurysm, intracranial berry, 1" RELATED [MONDO:Lexical] +synonym: "aneurysmal subarachnoid hemorrhage, familial" RELATED [] synonym: "ANIB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105800] xref: DOID:0080964 {source="MONDO:equivalentTo"} xref: GARD:18320 {source="MONDO:GARD"} @@ -142285,7 +142296,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:99092"} subset: orphanet_rare {source="Orphanet:99092"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aneurysm of interventricular septum" RELATED [OMIM:105805] +synonym: "aneurysm of interventricular septum" RELATED [] xref: GARD:16895 {source="MONDO:GARD"} xref: ICD10CM:Q21.0 {source="Orphanet:99092/attributed", source="Orphanet:99092/ntbt", source="Orphanet:99092"} xref: MEDGEN:234648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -142311,15 +142322,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:72"} subset: orphanet_rare {source="Orphanet:72"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Angelman syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:105830] +synonym: "Angelman syndrome" EXACT CLINGEN_LABEL [DOID:1932, ICD10CM:Q93.51, icd11.foundation:1106558408, MONDO:Lexical, NCIT:C75462, OMIM:105830, Orphanet:72] synonym: "Angelman syndrome (Type 1)" NARROW [DECIPHER:4] synonym: "Angelman syndrome (Type 2)" NARROW [DECIPHER:54] -synonym: "Angelman syndrome chromosome region" RELATED [OMIM:105830] +synonym: "Angelman syndrome chromosome region" RELATED [] synonym: "Angelman’s syndrome" EXACT [PMID:37498137] -synonym: "AS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:105830] -synonym: "happy puppet syndrome" EXACT DEPRECATED [DOID:1932, OMIM:105830] +synonym: "AS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "happy puppet syndrome" EXACT DEPRECATED [DOID:1932] synonym: "happy puppet syndrome (formerly)" RELATED DEPRECATED [GARD:0005810] -synonym: "happy puppet syndrome, formerly" RELATED DEPRECATED [OMIM:105830] +synonym: "happy puppet syndrome, formerly" RELATED DEPRECATED [] synonym: "puppetlike syndrome" EXACT DEPRECATED [DOID:1932] xref: DECIPHER:4 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DECIPHER:54 {source="MONDO:equivalentTo"} @@ -142363,7 +142374,7 @@ subset: orphanet_rare {source="Orphanet:63442"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Angel shaped phalangoepiphyseal dysplasia" RELATED [GARD:0000671] -synonym: "Angel-shaped phalangoepiphyseal dysplasia" RELATED [MONDO:Lexical, OMIM:105835] +synonym: "Angel-shaped phalangoepiphyseal dysplasia" RELATED [MONDO:Lexical] synonym: "ASPED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105835, Orphanet:63442] xref: GARD:671 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:63442", source="Orphanet:63442/attributed", source="Orphanet:63442/ntbt"} @@ -142406,11 +142417,11 @@ subset: orphanet_rare {source="Orphanet:1062"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "angioma hereditary neurocutaneous" RELATED [GARD:0000676] -synonym: "angioma, hereditary neurocutaneous" RELATED [OMIM:106070] -synonym: "hemangiomatosis, disseminated" RELATED [OMIM:106070] -synonym: "hereditary neurocutaneous angioma" EXACT [GARD:0000676] -synonym: "hereditary neurocutaneous malformation" RELATED [Orphanet:1062] -synonym: "spinal arterial Venous malformations with cutaneous hemangiomas" RELATED [OMIM:106070] +synonym: "angioma, hereditary neurocutaneous" RELATED [] +synonym: "hemangiomatosis, disseminated" RELATED [] +synonym: "hereditary neurocutaneous angioma" EXACT [GARD:0000676, icd11.foundation:182579434] +synonym: "hereditary neurocutaneous malformation" RELATED [] +synonym: "spinal arterial Venous malformations with cutaneous hemangiomas" RELATED [] xref: GARD:676 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:1062/attributed", source="Orphanet:1062/ntbt", source="Orphanet:1062"} xref: icd11.foundation:182579434 {source="MONDO:equivalentTo"} @@ -142439,12 +142450,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:468666"} subset: orphanet_rare {source="Orphanet:468666"} subset: rare -synonym: "ANHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106190] +synonym: "ANHD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "anhidrosis caused by mutation in ITPR2" EXACT [MONDO:design_pattern] -synonym: "anhidrosis, isolated, with normal sweat glands" RELATED [MONDO:Lexical, OMIM:106190] +synonym: "anhidrosis, isolated, with normal sweat glands" RELATED [MONDO:Lexical] synonym: "Dann-Epstein-Sohar syndrome" EXACT [DOID:0060603, OMIM:106190] synonym: "isolated generalised anhidrosis with normal sweat glands" RELATED OMO:0003005 [] -synonym: "isolated generalized anhidrosis with normal sweat glands" RELATED [Orphanet:468666] +synonym: "isolated generalized anhidrosis with normal sweat glands" RELATED [] synonym: "ITPR2 anhidrosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060603 {source="MONDO:equivalentTo"} xref: GARD:17843 {source="MONDO:GARD"} @@ -142495,7 +142506,7 @@ subset: orphanet_rare {source="Orphanet:1069"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aniridia absent patella" RELATED [GARD:0000685] -synonym: "aniridia and absent patella" RELATED [OMIM:106220] +synonym: "aniridia and absent patella" RELATED [] synonym: "familial syndrome of aniridia and absence of the patella" RELATED [GARD:0000685] xref: GARD:685 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1069/attributed", source="Orphanet:1069/ntbt", source="Orphanet:1069"} @@ -142545,9 +142556,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1072"} subset: ordo_subtype_of_a_disorder {source="Orphanet:1072"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AFA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106250] -synonym: "ankyloblepharon filiforme adnatum" EXACT [Orphanet:1072] -synonym: "ankyloblepharon filiforme adnatum and cleft palate" RELATED [MONDO:Lexical, OMIM:106250] +synonym: "AFA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ankyloblepharon filiforme adnatum" EXACT [] +synonym: "ankyloblepharon filiforme adnatum and cleft palate" RELATED [MONDO:Lexical] synonym: "ankyloblepharon filiforme adnatum cleft palate" RELATED [GARD:0000696] synonym: "ankyloblepharon filiforme congenitum" RELATED [GARD:0000696] synonym: "congenital filiform fusion of the eyelids with cleft palate and/or cleft lip" RELATED [GARD:0000696] @@ -142573,11 +142584,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1071"} subset: orphanet_rare {source="Orphanet:1071"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AEC Syndrome" EXACT [NORD:738] +synonym: "AEC Syndrome" EXACT [DOID:0090119, NORD:738, OMIM:106260, Orphanet:1071] synonym: "AEC syndrome" EXACT [DOID:0090119, OMIM:106260, Orphanet:1071] synonym: "Ankyloblepharon ectodermal defects cleft lip/palate" RELATED [GARD:0006571] synonym: "Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome" EXACT [DOID:0090119] -synonym: "ankyloblepharon-ectodermal defects-cleft LIP/palate" RELATED [OMIM:106260] +synonym: "ankyloblepharon-ectodermal defects-cleft LIP/palate" RELATED [] synonym: "cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects" RELATED [GARD:0004805] synonym: "Hay-Wells syndrome" EXACT [DOID:0090119, OMIM:106260, Orphanet:1071] synonym: "Rapp-Hodgkins syndrome" RELATED [https://orcid.org/0000-0002-6601-2165, https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome] @@ -142608,8 +142619,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007125 name: ankyloglossia def: "A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth." [NCIT:C124538] -synonym: "'tongue-Tie'" RELATED [OMIM:106280] -synonym: "ankyloglossia" EXACT [OMIM:106280] +synonym: "'tongue-Tie'" RELATED [] +synonym: "ankyloglossia" EXACT [DOID:0060604, ICD10CM:Q38.1, icd11.foundation:1838543063, NCIT:C124538, OMIM:106280] synonym: "FUSED to floor of mouth" EXACT [NCIT:C124538] synonym: "tongue-tie" EXACT [DOID:0060604] xref: DOID:0060604 {source="MONDO:equivalentTo"} @@ -142631,15 +142642,15 @@ id: MONDO:0007126 name: spondyloarthropathy, susceptibility to, 1 def: "Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "ankylosing spondylitis, susceptibility to" RELATED [OMIM:106300] -synonym: "Bechterew syndrome" RELATED [OMIM:106300] +synonym: "ankylosing spondylitis, susceptibility to" RELATED [] +synonym: "Bechterew syndrome" RELATED [] synonym: "HLA-B spondyloarthropathy, susceptibility to" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Marie-Strumpell spondylitis" RELATED [OMIM:106300] -synonym: "SPDA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106300] +synonym: "Marie-Strumpell spondylitis" RELATED [] +synonym: "SPDA1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "spondyloarthropathy, susceptibility to caused by mutation in HLA-B" EXACT [MONDO:design_pattern] synonym: "spondyloarthropathy, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:106300] -synonym: "spondyloarthropathy, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:106300] -synonym: "susceptibility to spondyloarthropathy 1" RELATED [OMIM:106300] +synonym: "spondyloarthropathy, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "susceptibility to spondyloarthropathy 1" RELATED [] xref: DOID:0080603 {source="MONDO:equivalentTo"} xref: MEDGEN:400145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:106300 {source="MONDO:equivalentTo"} @@ -142664,9 +142675,10 @@ subset: orphanet_rare {source="Orphanet:2206"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ankylosing vertebral hyperostosis" EXACT [DOID:6652, ICD9CM:721.6] -synonym: "ankylosing vertebral hyperostosis with tylosis" RELATED [OMIM:106400] -synonym: "diffuse idiopathic skeletal hyperostosis" EXACT [OMIM:106400] -synonym: "dish" EXACT [DOID:6652] +synonym: "ankylosing vertebral hyperostosis with tylosis" RELATED [] +synonym: "diffuse idiopathic skeletal hyperostosis" EXACT [DOID:6652, NCIT:C84671] +synonym: "DISH" EXACT ABBREVIATION [DOID:6652, NCIT:C84671] +synonym: "dish" EXACT [] synonym: "disseminated idiopathic skeletal hyperostosis" EXACT [DOID:6652] synonym: "Forestier disease" RELATED [DOID:6652] synonym: "Forestier's disease" EXACT [NCIT:C84671] @@ -142694,7 +142706,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007128 name: annular erythema -synonym: "annular erythema" EXACT [OMIM:106500] +synonym: "annular erythema" EXACT [icd11.foundation:958930318, OMIM:106500] xref: icd11.foundation:958930318 {source="MONDO:equivalentTo"} xref: MEDGEN:68608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562461 {source="MONDO:equivalentTo"} @@ -142709,16 +142721,16 @@ name: tooth agenesis, selective, 1 def: "Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals." [https://clinicalgenome.org/affiliation/40059/, MONDO:patterns/disease_series_by_gene, PMID:27699475, PMID:35877402] subset: gard_rare {source="GARD:18244", source="MONDO:GARD"} subset: rare -synonym: "hypodontia/oligodontia 1" RELATED [OMIM:106600] +synonym: "hypodontia/oligodontia 1" RELATED [] synonym: "MSX1 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MSX1-related tooth agenesis with or without orofacial cleft" EXACT [https://clinicalgenome.org/affiliation/40059/] -synonym: "second premolars and third molars, absence of" RELATED [OMIM:106600] -synonym: "STHAG1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106600] +synonym: "second premolars and third molars, absence of" RELATED [] +synonym: "STHAG1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "tooth agenesis caused by mutation in MSX1" EXACT [MONDO:design_pattern] -synonym: "tooth agenesis, familial" RELATED [OMIM:106600] +synonym: "tooth agenesis, familial" RELATED [] synonym: "tooth agenesis, selective, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:106600] -synonym: "tooth agenesis, selective, 1, with or without orofacial cleft" EXACT [OMIM:106600, OMIM:genemap2] -synonym: "tooth agenesis, selective, type 1" EXACT [MONDORULE:1, OMIM:106600] +synonym: "tooth agenesis, selective, 1, with or without orofacial cleft" EXACT [] +synonym: "tooth agenesis, selective, type 1" EXACT [MONDORULE:1] xref: GARD:18244 {source="MONDO:GARD"} xref: MEDGEN:483482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:106600 {source="MONDO:equivalentTo"} @@ -142743,14 +142755,14 @@ subset: ordo_disorder {source="Orphanet:99125"} subset: ordo_morphological_anomaly {source="Orphanet:99125"} subset: orphanet_rare {source="Orphanet:99125"} subset: rare -synonym: "anomalous pulmonary Venous return" RELATED [OMIM:106700] +synonym: "anomalous pulmonary Venous return" RELATED [] synonym: "pulmonary venolobar syndrome" EXACT [DOID:4297] -synonym: "scimitar anomaly" RELATED [OMIM:106700] -synonym: "scimitar syndrome" RELATED [DOID:4297] +synonym: "scimitar anomaly" RELATED [] +synonym: "scimitar syndrome" RELATED [] synonym: "TAPVR" EXACT ABBREVIATION [NCIT:C98585] -synonym: "TAPVR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106700] -synonym: "total anomalous pulmonary venous return" EXACT [DOID:4297] -synonym: "total anomalous pulmonary VENOUS return 1" RELATED [MONDO:Lexical, OMIM:106700] +synonym: "TAPVR1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "total anomalous pulmonary venous return" EXACT [DOID:4297, icd11.foundation:1532925990, NCIT:C98585] +synonym: "total anomalous pulmonary VENOUS return 1" RELATED [MONDO:Lexical] xref: DOID:4297 {source="EFO:1001167", source="MONDO:equivalentTo"} xref: GARD:16896 {source="MONDO:GARD"} xref: ICD10CM:Q26.2 {source="Orphanet:99125", source="Orphanet:99125/e", source="DOID:4297"} @@ -142784,7 +142796,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:69125"} subset: orphanet_rare {source="Orphanet:69125"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anonychia with flexural pigmentation" EXACT [OMIM:106750] +synonym: "anonychia with flexural pigmentation" EXACT [OMIM:106750, Orphanet:69125] xref: GARD:16682 {source="MONDO:GARD"} xref: MEDGEN:400144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566278 {source="MONDO:equivalentTo"} @@ -142813,7 +142825,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "anonychia-onychodystrophy with brachydactyly type b and ectrodactyly" EXACT [OMIM:106990] synonym: "autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly" RELATED [GARD:0000711] -synonym: "Kumar-Levick syndrome" EXACT [Orphanet:2355] +synonym: "Kumar-Levick syndrome" EXACT [] xref: GARD:711 {source="MONDO:GARD"} xref: MEDGEN:400143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536379 {source="MONDO:equivalentTo"} @@ -142836,9 +142848,9 @@ subset: orphanet_rare {source="Orphanet:1487"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anonychia and absence/hypoplasia of distal phalanges" RELATED [GARD:0004083] -synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges" RELATED [OMIM:106995] +synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges" RELATED [] synonym: "anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome" EXACT [Orphanet:1487] -synonym: "Cooks syndrome" EXACT CLINGEN_LABEL [OMIM:106995] +synonym: "Cooks syndrome" EXACT CLINGEN_LABEL [OMIM:106995, Orphanet:1487] synonym: "ODP" EXACT ABBREVIATION [Orphanet:1487] xref: GARD:4083 {source="MONDO:GARD"} xref: ICD10CM:Q84.6 {source="Orphanet:1487/attributed", source="Orphanet:1487/ntbt", source="Orphanet:1487"} @@ -142864,11 +142876,11 @@ name: nonsyndromic congenital nail disorder 6 subset: gard_rare {source="GARD:15040", source="MONDO:GARD"} subset: rare synonym: "absent nails and dystrophic nails" RELATED [GARD:0000710] -synonym: "anonychia, partial" RELATED [OMIM:107000] -synonym: "anonychia/hyponychia and onychodystrophy" RELATED [OMIM:107000] -synonym: "nail disorder, nonsyndromic congenital, 6" RELATED [MONDO:Lexical, OMIM:107000] -synonym: "NDNC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107000] -synonym: "nonsyndromic congenital nail disorder type 6" EXACT [DOID:0080084, MONDORULE:1] +synonym: "anonychia, partial" RELATED [] +synonym: "anonychia/hyponychia and onychodystrophy" RELATED [] +synonym: "nail disorder, nonsyndromic congenital, 6" RELATED [MONDO:Lexical] +synonym: "NDNC6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nonsyndromic congenital nail disorder type 6" EXACT [MONDORULE:1] synonym: "onychodystrophy-anonychia" RELATED [GARD:0000710] xref: DOID:0080084 {source="MONDO:equivalentTo"} xref: GARD:15040 {source="MONDO:GARD"} @@ -142889,7 +142901,7 @@ name: hereditary anorectal anomalies subset: gard_rare {source="MONDO:GARD"} subset: prototype_pattern subset: rare -synonym: "anorectal anomalies" RELATED [OMIM:107100] +synonym: "anorectal anomalies" RELATED [] synonym: "genetic anorectal anomalies" EXACT [https://orcid.org/0000-0001-5208-3432] xref: MEDGEN:501217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567938 {source="MONDO:equivalentObsolete"} @@ -142908,9 +142920,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:88620"} subset: orphanet_rare {source="Orphanet:88620"} subset: rare -synonym: "ANIC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107200] -synonym: "anosmia, congenital" RELATED [OMIM:107200] -synonym: "anosmia, isolated congenital" RELATED [MONDO:Lexical, OMIM:107200] +synonym: "ANIC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "anosmia, congenital" RELATED [] +synonym: "anosmia, isolated congenital" RELATED [MONDO:Lexical] synonym: "congenital anosmia" RELATED [GARD:0009486] xref: GARD:9486 {source="MONDO:GARD"} xref: ICD10CM:Q07.8 {source="Orphanet:88620", source="Orphanet:88620/attributed", source="Orphanet:88620/ntbt"} @@ -142933,12 +142945,12 @@ name: anterior segment dysgenesis 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anterior segment dysgenesis 1" EXACT [OMIM:107250] -synonym: "anterior segment dysgenesis 1, multiple subtypes" EXACT [OMIM:107250, OMIM:genemap2] -synonym: "anterior segment mesenchymal dysgenesis" RELATED [MONDO:Lexical, OMIM:107250] -synonym: "anterior segment ocular dysgenesis" RELATED [OMIM:107250] -synonym: "ASGD1" RELATED ABBREVIATION [OMIM:107250] -synonym: "ASMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107250] +synonym: "anterior segment dysgenesis 1" EXACT [DOID:0080606, OMIM:107250] +synonym: "anterior segment dysgenesis 1, multiple subtypes" EXACT [] +synonym: "anterior segment mesenchymal dysgenesis" RELATED [MONDO:Lexical] +synonym: "anterior segment ocular dysgenesis" RELATED [] +synonym: "ASGD1" RELATED ABBREVIATION [] +synonym: "ASMD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0060605 {source="MONDO:equivalentObsolete"} xref: DOID:0080606 {source="MONDO:equivalentTo"} xref: ICD10CM:Q13.8 {source="DOID:0060605"} @@ -142954,7 +142966,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007139 name: obsolete Antipyrine metabolism comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "antipyrine metabolism" EXACT [OMIM:107290] +synonym: "antipyrine metabolism" EXACT [] xref: OMIM:107290 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI is_obsolete: true @@ -142973,9 +142985,9 @@ replaced_by: MONDO:8000010 id: MONDO:0007141 name: obsolete antiviral state repressor, regulator of comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "antiviral STATE repressor, regulator OF" RELATED [OMIM:107440] -synonym: "antiviral state repressor, regulator of" EXACT [MONDO:Lexical, OMIM:107440] -synonym: "AVRR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107440] +synonym: "antiviral STATE repressor, regulator OF" RELATED [] +synonym: "antiviral state repressor, regulator of" EXACT [MONDO:Lexical] +synonym: "AVRR" RELATED ABBREVIATION [MONDO:Lexical] xref: OMIM:107440 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -142994,20 +143006,20 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "anus, imperforate, with hand, foot and ear anomalies" RELATED [GARD:0007784] -synonym: "anus, imperforate, with hand, foot, and Ear anomalies" RELATED [OMIM:107480] +synonym: "anus, imperforate, with hand, foot, and Ear anomalies" RELATED [] synonym: "deafness, sensorineural, with imperforate anus and hypoplastic thumbs" RELATED [GARD:0007784] -synonym: "deafness, sensorineural, with imperforate anus and thumb anomalies" RELATED [OMIM:107480] -synonym: "imperforate anus with hand, foot and ear anomalies" EXACT [Orphanet:857] +synonym: "deafness, sensorineural, with imperforate anus and thumb anomalies" RELATED [] +synonym: "imperforate anus with hand, foot and ear anomalies" EXACT [] synonym: "rear syndrome" EXACT [Orphanet:857] -synonym: "renal-Ear-anal-radial syndrome" RELATED [OMIM:107480] +synonym: "renal-Ear-anal-radial syndrome" RELATED [] synonym: "renal-ear-anal-radial syndrome" EXACT [Orphanet:857] synonym: "sensorineural deafness with imperforate anus and hypoplastic thumbs" EXACT [Orphanet:857] -synonym: "TBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:107480, Orphanet:857] -synonym: "TBS1" RELATED ABBREVIATION [OMIM:107480] -synonym: "Townes syndrome" EXACT [Orphanet:857] -synonym: "Townes-Brocks syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:107480] -synonym: "Townes-Brocks syndrome 1" RELATED [OMIM:107480] -synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [OMIM:107480] +synonym: "TBS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:857] +synonym: "TBS1" RELATED ABBREVIATION [] +synonym: "Townes syndrome" EXACT [NCIT:C99085, Orphanet:857] +synonym: "Townes-Brocks syndrome" EXACT CLINGEN_LABEL [DOID:0050887, icd11.foundation:66554749, MONDO:Lexical, NCIT:C99085, OMIMPS:107480, Orphanet:857] +synonym: "Townes-Brocks syndrome 1" RELATED [] +synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [] xref: DOID:0050887 {source="MONDO:equivalentTo"} xref: GARD:7784 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:857", source="Orphanet:857/attributed", source="Orphanet:857/ntbt"} @@ -143041,8 +143053,8 @@ subset: orphanet_rare {source="Orphanet:1110"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aortic arch anomaly - peculiar facies - intellectual disability" RELATED [GARD:0000739] -synonym: "aortic arch anomaly with peculiar facies and intellectual disability" RELATED [OMIM:107500] -synonym: "aortic arch anomaly with peculiar facies and mental retardation" RELATED DEPRECATED [OMIM:107500] +synonym: "aortic arch anomaly with peculiar facies and intellectual disability" RELATED [] +synonym: "aortic arch anomaly with peculiar facies and mental retardation" RELATED DEPRECATED [] synonym: "aortic arch anomaly-peculiar facies-intellectual disability syndrome" RELATED [GARD:0000739] synonym: "familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism" RELATED [GARD:0000739] xref: GARD:739 {source="MONDO:GARD"} @@ -143077,15 +143089,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:1114"} subset: orphanet_rare {source="Orphanet:1114"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:107600] -synonym: "aplasia cutis congenita" EXACT [MONDO:ambiguous] +synonym: "ACC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "aplasia cutis congenita" EXACT [icd11.foundation:350175828, MONDO:ambiguous, NCIT:C98822, Orphanet:1114] synonym: "aplasia cutis congenita (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "aplasia cutis congenita nonsyndromic" RELATED [GARD:0005835] synonym: "aplasia cutis congenita recessive" EXACT [GARD:0000755] -synonym: "aplasia cutis congenita, nonsyndromic" RELATED [MONDO:Lexical, OMIM:107600] -synonym: "congenital defect of skull and scalp" RELATED [OMIM:107600] +synonym: "aplasia cutis congenita, nonsyndromic" RELATED [MONDO:Lexical] +synonym: "congenital defect of skull and scalp" RELATED [] synonym: "scalp defect congenital" RELATED [GARD:0005835] -synonym: "scalp defect, congenital" RELATED [OMIM:107600] +synonym: "scalp defect, congenital" RELATED [] xref: DOID:0080661 {source="MONDO:equivalentTo"} xref: GARD:5835 {source="MONDO:GARD"} xref: HP:0001057 {source="MONDO:otherHierarchy"} @@ -143114,16 +143126,16 @@ id: MONDO:0007147 name: obstructive sleep apnea syndrome def: "Cessation of air flow during sleep due to upper airway obstruction." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "apnea, obstructive sleep" RELATED [MESH:D020181, OMIM:107650] +synonym: "apnea, obstructive sleep" RELATED [MESH:D020181] synonym: "Apneas, obstructive sleep" RELATED [MESH:D020181] -synonym: "obstructive sleep apnea" EXACT [MESH:D020181, MONDO:ambiguous] -synonym: "obstructive sleep apnea syndrome" EXACT [DOID:0050848, MESH:D020181, OMIM:107650] +synonym: "obstructive sleep apnea" EXACT [DOID:0050848, ICD10CM:G47.33, MESH:D020181, MONDO:ambiguous] +synonym: "obstructive sleep apnea syndrome" EXACT [DOID:0050848, MESH:D020181, NCIT:C27168, OMIM:107650] synonym: "obstructive sleep Apneas" RELATED [MESH:D020181] -synonym: "Osa" RELATED [OMIM:107650] +synonym: "Osa" RELATED [] synonym: "OSAHS" RELATED ABBREVIATION [MESH:D020181] synonym: "sleep apnea hypopnea syndrome" RELATED [MESH:D020181] synonym: "sleep apnea syndrome, obstructive" RELATED [MESH:D020181] -synonym: "sleep apnea/hypopnea syndrome" RELATED [OMIM:107650] +synonym: "sleep apnea/hypopnea syndrome" RELATED [] synonym: "sleep Apneas, obstructive" RELATED [MESH:D020181] synonym: "syndrome, obstructive sleep apnea" RELATED [MESH:D020181] synonym: "syndrome, sleep apnea, obstructive" RELATED [MESH:D020181] @@ -143171,12 +143183,12 @@ is_a: MONDO:0020573 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited id: MONDO:0007149 name: obsolete arbitrary restriction polymorphism 1 comment: This is a gene/protein record, not a disease. -synonym: "anonymous restriction polymorphism 1" RELATED [OMIM:107750] -synonym: "arbitrary restriction polymorphism 1" EXACT [OMIM:107750] -synonym: "arbitrary restriction polymorphism type 1" EXACT [MONDORULE:1, OMIM:107750] -synonym: "Arp-14A" RELATED [OMIM:107750] -synonym: "restriction fragment length polymorphism 14A" RELATED [OMIM:107750] -synonym: "Rflp-14A" RELATED [OMIM:107750] +synonym: "anonymous restriction polymorphism 1" RELATED [] +synonym: "arbitrary restriction polymorphism 1" EXACT [] +synonym: "arbitrary restriction polymorphism type 1" EXACT [MONDORULE:1] +synonym: "Arp-14A" RELATED [] +synonym: "restriction fragment length polymorphism 14A" RELATED [] +synonym: "Rflp-14A" RELATED [] xref: OMIM:107750 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1452" xsd:anyURI is_obsolete: true @@ -143186,10 +143198,10 @@ id: MONDO:0007150 name: arcus senilis def: "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." [MESH:D001112] subset: otar {source="MONDO:OTAR"} -synonym: "arcus corneae" RELATED [OMIM:107800] -synonym: "arcus of cornea" EXACT [DOID:11342] -synonym: "arcus senilis" EXACT [OMIM:107800] -synonym: "corneal arcus" EXACT [DOID:11342, OMIM:107800] +synonym: "arcus corneae" RELATED [] +synonym: "arcus of cornea" EXACT [DOID:11342, icd11.foundation:2142011301] +synonym: "arcus senilis" EXACT [DOID:11342, icd11.foundation:2142011301, OMIM:107800] +synonym: "corneal arcus" EXACT [DOID:11342, icd11.foundation:2142011301, OMIM:107800] xref: DOID:11342 {source="EFO:1000818", source="MONDO:equivalentTo"} xref: EFO:1000818 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H18.41 {source="DOID:11342"} @@ -143225,15 +143237,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arrhythmogenic right ventricular cardiomyopathy 1" EXACT [DOID:0110070, OMIM:107970] synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3" EXACT [MONDO:design_pattern] -synonym: "arrhythmogenic right ventricular dysplasia type 1" EXACT [DOID:0110070, MONDORULE:1] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 1" RELATED [MONDO:Lexical, OMIM:107970] -synonym: "arrhythmogenic right ventricular dysplasia, familial, type 1" EXACT [MONDORULE:1, OMIM:107970] +synonym: "arrhythmogenic right ventricular dysplasia type 1" EXACT [MONDORULE:1] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 1" RELATED [MONDO:Lexical] +synonym: "arrhythmogenic right ventricular dysplasia, familial, type 1" EXACT [MONDORULE:1] synonym: "ARVC1" EXACT ABBREVIATION [DOID:0110070] -synonym: "ARVD1" EXACT ABBREVIATION [DOID:0110070, MONDO:Lexical, OMIM:107970] -synonym: "cardiomyopathy, right ventricular dilated" RELATED [OMIM:107970] -synonym: "familial arrhythmogenic right ventricular dysplasia 1" EXACT [DOID:0110070] +synonym: "ARVD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:107970] +synonym: "cardiomyopathy, right ventricular dilated" RELATED [] +synonym: "familial arrhythmogenic right ventricular dysplasia 1" EXACT [] synonym: "TGFB3 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Uhl anomaly" RELATED [OMIM:107970] +synonym: "Uhl anomaly" RELATED [] xref: DOID:0110070 {source="MONDO:equivalentTo"} xref: ICD10CM:I42.8 {source="DOID:0110070"} xref: ICD10CM:Q24.8 {source="DOID:0110070"} @@ -143270,17 +143282,17 @@ subset: ordo_morphological_anomaly {source="Orphanet:46724"} subset: orphanet_rare {source="Orphanet:46724"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arteriovenous malformation of the brain, somatic" EXACT [OMIM:108010, OMIM:genemap2] -synonym: "arteriovenous malformations of the brain" EXACT [OMIM:108010] -synonym: "Bavm" RELATED [OMIM:108010] -synonym: "cerebral arteriovenous malformation" EXACT [DOID:0060688] -synonym: "cerebral arteriovenous malformations" RELATED [OMIM:108010] -synonym: "intracranial arteriovenous malformation" EXACT [DOID:0060688, Orphanet:46724] +synonym: "arteriovenous malformation of the brain, somatic" EXACT [] +synonym: "arteriovenous malformations of the brain" EXACT [DOID:0060688, OMIM:108010] +synonym: "Bavm" RELATED [] +synonym: "cerebral arteriovenous malformation" EXACT [DOID:0060688, NCIT:C2936, Orphanet:46724] +synonym: "cerebral arteriovenous malformations" RELATED [] +synonym: "intracranial arteriovenous malformation" EXACT [DOID:0060688, icd11.foundation:153256729, Orphanet:46724] synonym: "intracranial AVM" RELATED [GARD:0003020] synonym: "intracranial haemorrhage in brain arteriovenous malformations, susceptibility to" RELATED OMO:0003005 [] synonym: "intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" EXACT OMO:0003005 [] -synonym: "intracranial hemorrhage in brain arteriovenous malformations, susceptibility to" RELATED [OMIM:108010] -synonym: "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" EXACT [OMIM:108010, OMIM:genemap2] +synonym: "intracranial hemorrhage in brain arteriovenous malformations, susceptibility to" RELATED [] +synonym: "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation" EXACT [] xref: DOID:0060688 {source="MONDO:equivalentTo"} xref: GARD:3020 {source="MONDO:GARD"} xref: ICD10CM:Q28.2 {source="Orphanet:46724", source="Orphanet:46724/attributed", source="Orphanet:46724/ntbt", source="DOID:0060688"} @@ -143326,13 +143338,13 @@ name: arthrogryposis, distal, type 1A subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AMC" EXACT ABBREVIATION [OMIM:108120] -synonym: "arthrogryposis multiplex congenita" BROAD [OMIM:108120] -synonym: "arthrogryposis multiplex congenita, distal, type 1" RELATED [OMIM:108120] -synonym: "arthrogryposis, distal, type 1" RELATED [OMIM:108120] +synonym: "AMC" EXACT ABBREVIATION [] +synonym: "arthrogryposis multiplex congenita" BROAD [] +synonym: "arthrogryposis multiplex congenita, distal, type 1" RELATED [] +synonym: "arthrogryposis, distal, type 1" RELATED [] synonym: "arthrogryposis, distal, type 1A" EXACT [MONDO:Lexical, OMIM:108120] -synonym: "arthrogryposis, distal, type 2B4" RELATED [OMIM:108120, OMIM:genemap2] -synonym: "DA1A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108120, Orphanet:1146] +synonym: "arthrogryposis, distal, type 2B4" RELATED [] +synonym: "DA1A" EXACT ABBREVIATION [DOID:0111597, MONDO:Lexical, OMIM:108120] xref: DOID:0111597 {source="MONDO:equivalentTo"} xref: MEDGEN:113099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:108120 {source="MONDO:equivalentTo"} @@ -143357,16 +143369,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Arthogryposis with oculomotor limitation and electroretinal abnormalities" RELATED [GARD:0004047] synonym: "arthrogryposis ophthalmoplegia retinopathy" RELATED [GARD:0004047] -synonym: "arthrogryposis with oculomotor limitation and electroretinal abnormalities" RELATED [GARD:0004047, OMIM:108145] -synonym: "arthrogryposis, distal, type 2B" RELATED [OMIM:108145] -synonym: "arthrogryposis, distal, type 5" RELATED [MONDO:Lexical, OMIM:108145] +synonym: "arthrogryposis with oculomotor limitation and electroretinal abnormalities" RELATED [GARD:0004047] +synonym: "arthrogryposis, distal, type 2B" RELATED [] +synonym: "arthrogryposis, distal, type 5" RELATED [MONDO:Lexical] synonym: "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" EXACT [GARD:0004047] -synonym: "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" RELATED [Orphanet:1154] -synonym: "DA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108145] -synonym: "distal arthrogryposis type 5" EXACT [Orphanet:1154] -synonym: "distal arthrogryposis type IIB" EXACT [Orphanet:1154] -synonym: "distal arthrogryposis with ophthalmoplegia" EXACT [GARD:0004047, Orphanet:1154] -synonym: "oculomelic amyoplasia" EXACT [GARD:0004047, OMIM:108145, Orphanet:1154] +synonym: "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" RELATED [] +synonym: "DA5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "distal arthrogryposis type 5" EXACT [DOID:0111608, Orphanet:1154] +synonym: "distal arthrogryposis type IIB" EXACT [DOID:0111608, Orphanet:1154] +synonym: "distal arthrogryposis with ophthalmoplegia" EXACT [DOID:0111608, GARD:0004047, Orphanet:1154] +synonym: "oculomelic amyoplasia" EXACT [DOID:0111608, GARD:0004047, OMIM:108145, Orphanet:1154] xref: DOID:0111608 {source="MONDO:equivalentTo"} xref: GARD:4047 {source="MONDO:GARD"} xref: ICD10CM:Q68.8 {source="Orphanet:1154", source="Orphanet:1154/attributed", source="Orphanet:1154/ntbt"} @@ -143390,11 +143402,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1144"} subset: orphanet_rare {source="Orphanet:1144"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis and sensorineural deafness" RELATED [OMIM:108200] -synonym: "arthrogryposis, distal, type 6" RELATED [MONDO:Lexical, OMIM:108200] +synonym: "arthrogryposis and sensorineural deafness" RELATED [] +synonym: "arthrogryposis, distal, type 6" RELATED [MONDO:Lexical] synonym: "arthrogryposis-like hand anomaly and sensorineural deafness" RELATED [GARD:0000784] -synonym: "DA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108200] -synonym: "distal arthrogryposis type 6" EXACT [Orphanet:1144] +synonym: "DA6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "distal arthrogryposis type 6" EXACT [DOID:0111609, Orphanet:1144] synonym: "familial hand abnormality and sensori-neural deafness" RELATED [GARD:0000784] xref: DOID:0111609 {source="MONDO:equivalentTo"} xref: GARD:784 {source="MONDO:GARD"} @@ -143416,13 +143428,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:90653"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthroophthalmopathy, hereditary progressive" RELATED [OMIM:108300] -synonym: "Stickler syndrome type 1" EXACT CLINGEN_LABEL [] -synonym: "Stickler syndrome, membranous vitreous type" RELATED [OMIM:108300] -synonym: "Stickler syndrome, type 1" RELATED [OMIM:108300] -synonym: "Stickler syndrome, type I" RELATED [MONDO:Lexical, OMIM:108300] -synonym: "Stickler syndrome, vitreous type 1" RELATED [OMIM:108300] -synonym: "STL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108300] +synonym: "arthroophthalmopathy, hereditary progressive" RELATED [] +synonym: "Stickler syndrome type 1" EXACT CLINGEN_LABEL [icd11.foundation:203625278, NCIT:C168733, Orphanet:90653] +synonym: "Stickler syndrome, membranous vitreous type" RELATED [] +synonym: "Stickler syndrome, type 1" RELATED [] +synonym: "Stickler syndrome, type I" RELATED [MONDO:Lexical] +synonym: "Stickler syndrome, vitreous type 1" RELATED [] +synonym: "STL1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080676 {source="MONDO:equivalentTo"} xref: GARD:5018 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:90653", source="Orphanet:90653/attributed", source="Orphanet:90653/ntbt"} @@ -143446,9 +143458,9 @@ id: MONDO:0007161 name: spermatogenic failure 2 subset: gard_rare {source="GARD:15041", source="MONDO:GARD"} subset: rare -synonym: "Aspermiogenesis Factor" RELATED [OMIM:108420] -synonym: "spermatogenic failure 2" EXACT [MONDO:Lexical, OMIM:108420] -synonym: "SPGF2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108420] +synonym: "Aspermiogenesis Factor" RELATED [] +synonym: "spermatogenic failure 2" EXACT [DOID:0070164, MONDO:Lexical, OMIM:108420] +synonym: "SPGF2" EXACT ABBREVIATION [DOID:0070164, MONDO:Lexical, OMIM:108420] xref: DOID:0070164 {source="MONDO:equivalentTo"} xref: GARD:15041 {source="MONDO:GARD"} xref: MEDGEN:400056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -143479,22 +143491,22 @@ subset: orphanet_rare {source="Orphanet:97"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Acetazolamide-responsive episodic ataxia syndrome" RELATED [GARD:0009602] -synonym: "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia" RELATED [OMIM:108500] +synonym: "Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia" RELATED [] synonym: "Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia" RELATED [GARD:0009602] synonym: "APCA" RELATED ABBREVIATION [GARD:0009602] -synonym: "ataxia, episodic, with Nystagmus" RELATED [OMIM:108500] -synonym: "ataxia, familial paroxysmal" RELATED [OMIM:108500] +synonym: "ataxia, episodic, with Nystagmus" RELATED [] +synonym: "ataxia, familial paroxysmal" RELATED [] synonym: "ataxia, familial, paroxysmal" RELATED [GARD:0009602] synonym: "CACNA1A hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CAPA" RELATED ABBREVIATION [GARD:0009602] -synonym: "cerebellar ataxia, paroxysmal, Acetazolamide-responsive" RELATED [OMIM:108500] -synonym: "Cerebellopathy, hereditary paroxysmal" RELATED [OMIM:108500] -synonym: "EA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108500] -synonym: "episodic ataxia type 2" EXACT CLINGEN_LABEL [Orphanet:97] +synonym: "cerebellar ataxia, paroxysmal, Acetazolamide-responsive" RELATED [] +synonym: "Cerebellopathy, hereditary paroxysmal" RELATED [] +synonym: "EA2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "episodic ataxia type 2" EXACT CLINGEN_LABEL [DOID:0050990, Orphanet:97] synonym: "episodic ataxia with nystagmus" RELATED [GARD:0009602] -synonym: "episodic ataxia, Nystagmus-associated" RELATED [OMIM:108500] -synonym: "episodic ataxia, type 2" RELATED [MONDO:Lexical, OMIM:108500] -synonym: "familial paroxysmal ataxia" RELATED [Orphanet:97] +synonym: "episodic ataxia, Nystagmus-associated" RELATED [] +synonym: "episodic ataxia, type 2" RELATED [MONDO:Lexical] +synonym: "familial paroxysmal ataxia" RELATED [] synonym: "hereditary episodic ataxia caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] synonym: "Nystagmus-associated episodic ataxia" RELATED [GARD:0009602] xref: DOID:0050990 {source="MONDO:equivalentTo"} @@ -143524,9 +143536,9 @@ subset: orphanet_rare {source="Orphanet:251282"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic ataxia caused by mutation in VAMP1" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant spastic ataxia type 1" RELATED [Orphanet:251282] -synonym: "spastic ataxia 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:108600] -synonym: "spastic ataxia type 1" EXACT [DOID:0050772, MONDORULE:1] +synonym: "autosomal dominant spastic ataxia type 1" RELATED [] +synonym: "spastic ataxia 1, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "spastic ataxia type 1" EXACT [MONDORULE:1] synonym: "SPAX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108600, Orphanet:251282] synonym: "VAMP1 autosomal dominant spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050772 {source="MONDO:equivalentTo"} @@ -143554,10 +143566,10 @@ subset: orphanet_rare {source="Orphanet:1182"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic ataxia type 7" EXACT [Orphanet:1182] -synonym: "miosis, congenital, with spastic ataxia" RELATED [OMIM:108650] -synonym: "spastic ataxia 7, autosomal dominant" RELATED [MONDO:Lexical, OMIM:108650] -synonym: "spastic ataxia type 7" EXACT [DOID:0050945, MONDORULE:1] -synonym: "spastic ataxia with congenital miosis" RELATED [OMIM:108650] +synonym: "miosis, congenital, with spastic ataxia" RELATED [] +synonym: "spastic ataxia 7, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "spastic ataxia type 7" EXACT [MONDORULE:1] +synonym: "spastic ataxia with congenital miosis" RELATED [] synonym: "SPAX7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108650, Orphanet:1182] xref: DOID:0050945 {source="MONDO:equivalentTo"} xref: GARD:16560 {source="MONDO:GARD"} @@ -143598,11 +143610,11 @@ subset: rare synonym: "AO1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108720, Orphanet:1190] synonym: "AOI" EXACT ABBREVIATION [OMIM:108720, Orphanet:1190] synonym: "atelosteogenesis type 1" EXACT [Orphanet:1190] -synonym: "atelosteogenesis, type 1" RELATED [OMIM:108720] -synonym: "atelosteogenesis, type I" RELATED [MONDO:Lexical, OMIM:108720] +synonym: "atelosteogenesis, type 1" RELATED [] +synonym: "atelosteogenesis, type I" RELATED [MONDO:Lexical] synonym: "giant cell chondrodysplasia" EXACT [OMIM:108720, Orphanet:1190] synonym: "spondylo-humero-femoral dysplasia" EXACT [Orphanet:1190] -synonym: "spondylohumerofemoral hypoplasia" RELATED [OMIM:108720] +synonym: "spondylohumerofemoral hypoplasia" RELATED [] xref: GARD:9287 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:1190", source="Orphanet:1190/attributed", source="Orphanet:1190/ntbt"} xref: icd11.foundation:449799342 {source="MONDO:equivalentTo"} @@ -143630,11 +143642,11 @@ subset: orphanet_rare {source="Orphanet:56305"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AO3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108721, Orphanet:56305] -synonym: "AOIII" EXACT ABBREVIATION [Orphanet:56305] -synonym: "Aoiii" RELATED [OMIM:108721] +synonym: "AOIII" EXACT ABBREVIATION [OMIM:108721, Orphanet:56305] +synonym: "Aoiii" RELATED [] synonym: "atelosteogenesis type 3" EXACT [Orphanet:56305] -synonym: "atelosteogenesis, type 3" RELATED [OMIM:108721] -synonym: "atelosteogenesis, type III" RELATED [MONDO:Lexical, OMIM:108721] +synonym: "atelosteogenesis, type 3" RELATED [] +synonym: "atelosteogenesis, type III" RELATED [MONDO:Lexical] xref: GARD:10608 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:56305", source="Orphanet:56305/attributed", source="Orphanet:56305/ntbt"} xref: icd11.foundation:1997882528 {source="MONDO:equivalentTo"} @@ -143655,9 +143667,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007169 name: atherosclerosis susceptibility -synonym: "Atherogenic lipoprotein phenotype" RELATED [OMIM:108725] +synonym: "Atherogenic lipoprotein phenotype" RELATED [] synonym: "atherosclerosis susceptibility" EXACT [MONDO:Lexical, OMIM:108725] -synonym: "atherosclerosis, susceptibility to" EXACT [OMIM:108725, OMIM:genemap2] +synonym: "atherosclerosis, susceptibility to" EXACT [] synonym: "ATHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108725] xref: MEDGEN:283903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:108725 {source="MONDO:equivalentTo"} @@ -143686,13 +143698,13 @@ def: "Any atrial standstill in which the cause of the disease is a mutation in t subset: gard_rare {source="GARD:18611", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "atrial cardiomyopathy with heart block" RELATED [OMIM:108770] -synonym: "atrial standstill 1" EXACT [MONDO:Lexical, OMIM:108770] +synonym: "atrial cardiomyopathy with heart block" RELATED [] +synonym: "atrial standstill 1" EXACT [DOID:0080662, MONDO:Lexical, OMIM:108770] synonym: "atrial standstill caused by mutation in GJA5" EXACT [MONDO:design_pattern] -synonym: "atrial standstill type 1" EXACT [MONDORULE:1, OMIM:108770] -synonym: "atrial standstill, digenic (GJA5/SCN5A)" EXACT [OMIM:108770, OMIM:genemap2] -synonym: "ATRST1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108770] -synonym: "cardiomyopathy, familial, with conduction disturbance" RELATED [OMIM:108770] +synonym: "atrial standstill type 1" EXACT [MONDORULE:1] +synonym: "atrial standstill, digenic (GJA5/SCN5A)" EXACT [] +synonym: "ATRST1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "cardiomyopathy, familial, with conduction disturbance" RELATED [] synonym: "GJA5 atrial standstill" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080662 {source="MONDO:equivalentTo"} xref: GARD:18611 {source="MONDO:GARD"} @@ -143717,13 +143729,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ASD 1" RELATED [OMIM:108800] -synonym: "ASD 2" RELATED [OMIM:108800] +synonym: "ASD 1" RELATED [] +synonym: "ASD 2" RELATED [] synonym: "ASD1" EXACT ABBREVIATION [DOID:0110106, MONDO:Lexical, OMIM:108800] -synonym: "atrial heart septal defect type 1" EXACT [DOID:0110106, MONDORULE:1] +synonym: "atrial heart septal defect type 1" EXACT [MONDORULE:1] synonym: "atrial septal defect 1" EXACT [DOID:0110106, MONDO:Lexical, OMIM:108800] -synonym: "atrial septal defect, primum type" RELATED [OMIM:108800] -synonym: "atrial septal defect, secundum type" RELATED [OMIM:108800] +synonym: "atrial septal defect, primum type" RELATED [] +synonym: "atrial septal defect, secundum type" RELATED [] xref: DOID:0110106 {source="MONDO:equivalentTo"} xref: ICD10CM:Q21.1 {source="DOID:0110106"} xref: MEDGEN:349495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -143744,12 +143756,12 @@ subset: orphanet_rare {source="Orphanet:1479"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ASD with or without atrioventricular conduction defects" EXACT [DOID:0110112, OMIM:108900] -synonym: "ASD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:108900] +synonym: "ASD7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrial heart septal defect caused by mutation in NKX2-5" EXACT [MONDO:design_pattern] -synonym: "atrial heart septal defect type 7" EXACT [DOID:0110112, MONDORULE:1] -synonym: "atrial septal defect 7 with or without atrioventricular conduction defects" RELATED [MONDO:Lexical, OMIM:108900] +synonym: "atrial heart septal defect type 7" EXACT [MONDORULE:1] +synonym: "atrial septal defect 7 with or without atrioventricular conduction defects" RELATED [MONDO:Lexical] synonym: "atrial septal defect 7, with or without AV conduction defects" EXACT [DOID:0110112] -synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT [DOID:0110112] +synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT [DOID:0110112, Orphanet:1479] synonym: "NKX2-5 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110112 {source="MONDO:equivalentTo"} xref: GARD:16566 {source="MONDO:GARD"} @@ -143776,7 +143788,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atrial tachyarrhythmia with short PR interval" EXACT [DOID:13087, OMIM:108950, Orphanet:844] synonym: "LGL syndrome" EXACT [Orphanet:844] -synonym: "Lown-Ganong-Levine syndrome" EXACT [Orphanet:844] +synonym: "Lown-Ganong-Levine syndrome" EXACT [DOID:13087, icd11.foundation:414532162, Orphanet:844] synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias" EXACT [DOID:13087] xref: DOID:13087 {source="MONDO:equivalentTo"} xref: GARD:16550 {source="MONDO:GARD"} @@ -143795,9 +143807,9 @@ is_a: MONDO:0002254 {source="DOID:13087"} ! syndromic disease [Term] id: MONDO:0007175 name: PR interval, variation in -synonym: "Atrioventricular conduction time, variation in" RELATED [OMIM:108980] -synonym: "PR interval, variation in" EXACT [OMIM:108980] -synonym: "PR interval, variation type in" EXACT [MONDORULE:4, OMIM:108980] +synonym: "Atrioventricular conduction time, variation in" RELATED [] +synonym: "PR interval, variation in" EXACT [] +synonym: "PR interval, variation type in" EXACT [MONDORULE:4] xref: MEDGEN:463601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:108980 {source="MONDO:equivalentTo"} xref: UMLS:C3152251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463601"} @@ -143813,12 +143825,12 @@ subset: ordo_disorder {source="Orphanet:86813"} subset: orphanet_rare {source="Orphanet:86813"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atrophia areata" EXACT [OMIM:108985, Orphanet:86813] -synonym: "helicoidal peripapillary chorioretinal Degeneration" RELATED [OMIM:108985] -synonym: "peripapillary chorioretinal Degeneration, Icelandic type" RELATED [OMIM:108985] -synonym: "SCRA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:108985, Orphanet:86813] -synonym: "SVEINSSON chorioretinal atrophy" RELATED [MONDO:Lexical, OMIM:108985] -synonym: "Sveinsson chorioretinal atrophy" EXACT [Orphanet:86813] +synonym: "atrophia areata" EXACT [DOID:0111228, icd11.foundation:896652469, OMIM:108985, Orphanet:86813] +synonym: "helicoidal peripapillary chorioretinal Degeneration" RELATED [] +synonym: "peripapillary chorioretinal Degeneration, Icelandic type" RELATED [] +synonym: "SCRA" EXACT ABBREVIATION [DOID:0111228, MONDO:Lexical, OMIM:108985, Orphanet:86813] +synonym: "SVEINSSON chorioretinal atrophy" RELATED [MONDO:Lexical] +synonym: "Sveinsson chorioretinal atrophy" EXACT [DOID:0111228, icd11.foundation:896652469, OMIM:108985, Orphanet:86813] xref: DOID:0111228 {source="MONDO:equivalentTo"} xref: GARD:16757 {source="MONDO:GARD"} xref: ICD10CM:H31.2 {source="Orphanet:86813", source="Orphanet:86813/attributed", source="Orphanet:86813/ntbt"} @@ -143844,7 +143856,7 @@ subset: orphanet_rare {source="Orphanet:114"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "auriculo-osteodysplasia" RELATED [GARD:0008663] -synonym: "auriculoosteodysplasia" EXACT [OMIM:109000] +synonym: "auriculoosteodysplasia" EXACT [OMIM:109000, Orphanet:114] synonym: "multiple osseous dysplasia, characteristic ear shape, and short stature" RELATED [GARD:0008663] xref: GARD:8663 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:114", source="Orphanet:114/attributed", source="Orphanet:114/ntbt"} @@ -143861,8 +143873,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8663/auricul id: MONDO:0007178 name: aurocephalosyndactyly synonym: "aural cephalosyndactyly" RELATED [GARD:0009218] -synonym: "Auralcephalosyndactyly" RELATED [OMIM:109050] -synonym: "aurocephalosyndactyly" EXACT [OMIM:109050] +synonym: "Auralcephalosyndactyly" RELATED [] +synonym: "aurocephalosyndactyly" EXACT [icd11.foundation:1849836237, OMIM:109050] synonym: "Kurczynski-Casperson syndrome" RELATED [GARD:0009218] xref: icd11.foundation:1849836237 {source="MONDO:equivalentTo"} xref: MEDGEN:354732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -143879,12 +143891,12 @@ def: "A disorder resulting from loss of function or tissue destruction of an org comment: Editor note: check OMIM subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "autoimmune disease" EXACT [EFO:0005140, NCIT:C2889, OMIM:109100] +synonym: "autoimmune disease" EXACT [DOID:417, EFO:0005140, NCIT:C2889, OMIM:109100] synonym: "autoimmune disease or disorder" EXACT [] synonym: "autoimmune disorder" EXACT [NCIT:C2889] -synonym: "autoimmune hypersensitivity disease" RELATED [DOID:417] -synonym: "disease, autoimmune" EXACT [NCIT:C2889] -synonym: "hypersensitivity reaction type II disease" RELATED [DOID:417] +synonym: "autoimmune hypersensitivity disease" RELATED [] +synonym: "disease, autoimmune" EXACT [] +synonym: "hypersensitivity reaction type II disease" RELATED [] xref: DOID:417 {source="MONDO:equivalentTo"} xref: EFO:0005809 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:279.4 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -143907,8 +143919,8 @@ relationship: excluded_subClassOf MONDO:0000605 {source="DOID:417", source="MOND id: MONDO:0007180 name: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities synonym: "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" EXACT [OMIM:109120] -synonym: "De Hauwere syndrome" RELATED [OMIM:109120] -synonym: "iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness" RELATED [OMIM:109120] +synonym: "De Hauwere syndrome" RELATED [] +synonym: "iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness" RELATED [] xref: MEDGEN:349489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566234 {source="MONDO:equivalentTo"} xref: OMIM:109120 {source="MONDO:equivalentTo"} @@ -143920,7 +143932,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007181 name: axial osteomalacia synonym: "atypical osteomalacia involving the axial skeleton" RELATED [GARD:0008431] -synonym: "axial osteomalacia" EXACT [OMIM:109130] +synonym: "axial osteomalacia" EXACT [DOID:0080039, OMIM:109130] xref: DOID:0080039 {source="MONDO:equivalentTo"} xref: MEDGEN:354730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537791 {source="MONDO:equivalentTo"} @@ -143941,21 +143953,21 @@ subset: ordo_disorder {source="Orphanet:98757"} subset: orphanet_rare {source="Orphanet:98757"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant striatonigral degeneration" EXACT [Orphanet:98757] +synonym: "autosomal dominant striatonigral degeneration" EXACT [] synonym: "Azorean disease" EXACT [DOID:1440] synonym: "Azorean disease of the nervous system" EXACT [Orphanet:98757] -synonym: "Azorean neurologic disease" RELATED [OMIM:109150] +synonym: "Azorean neurologic disease" RELATED [] synonym: "Machado disease" EXACT [Orphanet:98757] -synonym: "Machado-Joseph disease" EXACT [MONDO:Lexical, OMIM:109150, Orphanet:98757] +synonym: "Machado-Joseph disease" EXACT [DOID:1440, MONDO:Lexical, NCIT:C84830, OMIM:109150, Orphanet:98757] synonym: "MJD" EXACT ABBREVIATION [DOID:1440, MONDO:Lexical, OMIM:109150, Orphanet:98757] synonym: "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia" EXACT [Orphanet:98757] -synonym: "Nigrospinodentatal Degeneration" RELATED [OMIM:109150] -synonym: "SCA3" EXACT ABBREVIATION [Orphanet:98757] +synonym: "Nigrospinodentatal Degeneration" RELATED [] +synonym: "SCA3" EXACT ABBREVIATION [DOID:1440, NCIT:C84830, Orphanet:98757] synonym: "spinocerebellar ataxia 3" EXACT [DOID:1440, OMIM:109150] -synonym: "spinocerebellar ataxia type 3" EXACT [DOID:1440] -synonym: "spinocerebellar atrophy 3" RELATED [OMIM:109150] +synonym: "spinocerebellar ataxia type 3" EXACT [DOID:1440, NCIT:C84830, Orphanet:98757] +synonym: "spinocerebellar atrophy 3" RELATED [] synonym: "spinocerebellar atrophy type 3" RELATED [GARD:0006801] -synonym: "Spinopontine atrophy" RELATED [OMIM:109150] +synonym: "Spinopontine atrophy" RELATED [] xref: DOID:1440 {source="MONDO:equivalentTo"} xref: GARD:6801 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:98757", source="Orphanet:98757/attributed", source="Orphanet:98757/ntbt"} @@ -143991,7 +144003,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AGA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:109200] synonym: "alopecia, androgenetic, 1" EXACT [MONDO:Lexical, OMIM:109200] -synonym: "baldness, Male pattern" RELATED [OMIM:109200] +synonym: "baldness, Male pattern" RELATED [] xref: MEDGEN:886756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:109200 {source="MONDO:equivalentTo"} xref: UMLS:C4049090 {source="MEDGEN:886756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -144008,7 +144020,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1228"} subset: orphanet_rare {source="Orphanet:1228"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Banki syndrome" EXACT [OMIM:109300] +synonym: "Banki syndrome" EXACT [OMIM:109300, Orphanet:1228] synonym: "fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)" RELATED [GARD:0000813] xref: GARD:813 {source="MONDO:GARD"} xref: ICD10CM:Q68.1 {source="Orphanet:1228", source="Orphanet:1228/attributed", source="Orphanet:1228/ntbt"} @@ -144030,10 +144042,10 @@ synonym: "acid reflux" EXACT [DOID:8534] synonym: "Gastresophageal reflux" EXACT [DOID:8534] synonym: "gastro-esophageal reflux" EXACT [DOID:8534] synonym: "gastroesophageal reflux" EXACT [DOID:8534, MONDO:Lexical, OMIM:109350] -synonym: "gastroesophageal reflux disease" EXACT [DOID:8534, MTH:NOCODE, OMIM:109350] +synonym: "gastroesophageal reflux disease" EXACT [DOID:8534, MTH:NOCODE, NCIT:C26781, OMIM:109350] synonym: "gastroesophageal reflux, paediatric" RELATED OMO:0003005 [] -synonym: "gastroesophageal reflux, pediatric" RELATED [OMIM:109350] -synonym: "ger" RELATED [MONDO:Lexical, OMIM:109350] +synonym: "gastroesophageal reflux, pediatric" RELATED [] +synonym: "ger" RELATED [MONDO:Lexical] synonym: "GERD" EXACT ABBREVIATION [DOID:8534, NCIT:C26781] synonym: "GERD - gastro-esophageal reflux disease" EXACT [DOID:8534] xref: DOID:8534 {source="MONDO:equivalentTo", source="EFO:0003948"} @@ -144073,15 +144085,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:377"} subset: orphanet_rare {source="Orphanet:377"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "basal cell nevus syndrome" EXACT [DOID:2512, MONDO:Lexical, OMIM:109400, Orphanet:377] -synonym: "BCNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:109400] -synonym: "Gorlin syndrome" EXACT [DOID:2512, OMIM:109400] -synonym: "Gorlin-Goltz syndrome" EXACT [OMIM:109400, Orphanet:377] +synonym: "basal cell nevus syndrome" EXACT [DOID:2512, MONDO:Lexical, NCIT:C2892, OMIMPS:109400, Orphanet:377] +synonym: "BCNS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Gorlin syndrome" EXACT [DOID:2512, icd11.foundation:1012745138, NCIT:C2892, Orphanet:377] +synonym: "Gorlin-Goltz syndrome" EXACT [NCIT:C2892, Orphanet:377] synonym: "multiple basal cell carcinomas" EXACT [NCIT:C2892] -synonym: "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies" RELATED [OMIM:109400] -synonym: "NBCCS" EXACT ABBREVIATION [Orphanet:377] +synonym: "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies" RELATED [] +synonym: "NBCCS" EXACT ABBREVIATION [DOID:2512, Orphanet:377] synonym: "nevoid basal cell cancer syndrome" EXACT [NCIT:C2892] -synonym: "nevoid basal cell carcinoma syndrome" EXACT CLINGEN_LABEL [OMIM:109400, Orphanet:377] +synonym: "nevoid basal cell carcinoma syndrome" EXACT CLINGEN_LABEL [DOID:2512, NCIT:C2892, Orphanet:377] xref: DOID:0070365 {source="MONDO:equivalentTo"} xref: DOID:2512 {source="MONDO:equivalentTo"} xref: GARD:7166 {source="MONDO:GARD"} @@ -144120,7 +144132,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:2285"} subset: orphanet_rare {source="Orphanet:2285"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "basilar impression, primary" RELATED [OMIM:109500] +synonym: "basilar impression, primary" RELATED [] synonym: "Bull-Nixon syndrome" EXACT [Orphanet:2285] synonym: "primary basilar impression" RELATED [GARD:0001037] xref: GARD:1037 {source="MONDO:GARD"} @@ -144137,9 +144149,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007189 name: obsolete B-cell growth factor -synonym: "B-cell growth factor" EXACT [MONDO:Lexical, OMIM:109540] -synonym: "B-cell growth Factor 1" RELATED [OMIM:109540] -synonym: "BCGF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:109540] +synonym: "B-cell growth factor" EXACT [MONDO:Lexical] +synonym: "B-cell growth Factor 1" RELATED [] +synonym: "BCGF" RELATED ABBREVIATION [MONDO:Lexical] xref: OMIM:109540 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2943" xsd:anyURI @@ -144151,12 +144163,12 @@ name: leukemia, chronic lymphocytic, susceptibility to, 2 subset: inferred_rare subset: predisposition subset: rare -synonym: "B-cell malignancy, low-grade" RELATED [OMIM:109543] -synonym: "Clls2" RELATED [OMIM:109543] -synonym: "disrupted in B-cell malignancy" RELATED [OMIM:109543] -synonym: "leukemia, chronic lymphocytic, B-cell" RELATED [OMIM:109543] +synonym: "B-cell malignancy, low-grade" RELATED [] +synonym: "Clls2" RELATED [] +synonym: "disrupted in B-cell malignancy" RELATED [] +synonym: "leukemia, chronic lymphocytic, B-cell" RELATED [] synonym: "leukemia, chronic lymphocytic, susceptibility to, 2" EXACT [OMIM:109543] -synonym: "leukemia, chronic lymphocytic, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:109543] +synonym: "leukemia, chronic lymphocytic, susceptibility to, type 2" EXACT [MONDORULE:1] xref: MEDGEN:358385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:109543 {source="MONDO:equivalentTo"} xref: Orphanet:67038 {source="OMIM:109543"} @@ -144176,12 +144188,12 @@ subset: rare synonym: "Adamantiades-Behcet disease" EXACT [DOID:13241] synonym: "BD" RELATED ABBREVIATION [GARD:0000848] synonym: "Bechet syndrome" EXACT [] -synonym: "Behcet disease" EXACT [OMIM:109650] -synonym: "Behcet syndrome" EXACT [DOID:13241, OMIM:109650] -synonym: "Behcet's disease" RELATED [DOID:13241] -synonym: "Behcet's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:13241, ICD9CM:136.1, MONDO:LexicalVariant] +synonym: "Behcet disease" EXACT [NCIT:C34416, OMIM:109650] +synonym: "Behcet syndrome" EXACT [DOID:13241, NCIT:C34416, OMIM:109650] +synonym: "Behcet's disease" RELATED [] +synonym: "Behcet's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, ICD9CM:136.1, MONDO:LexicalVariant, NCIT:C34416] synonym: "Behet's syndrome" EXACT [DOID:13241] -synonym: "Behçet disease" EXACT [NCIT:C34416] +synonym: "Behçet disease" EXACT [NCIT:C34416, Orphanet:117] synonym: "Behçet syndrome" EXACT [NCIT:C34416] synonym: "Behçet's disease" RELATED [GARD:0000848] synonym: "Behçet's syndrome" EXACT [NCIT:C34416] @@ -144225,8 +144237,8 @@ relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:117", source=" id: MONDO:0007192 name: beta-amino acids, renal transport of synonym: "AABT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:109660] -synonym: "BETA-amino acids, renal TRANSPORT OF" RELATED [MONDO:Lexical, OMIM:109660] -synonym: "taurine renal reabsorption" RELATED [OMIM:109660] +synonym: "BETA-amino acids, renal TRANSPORT OF" RELATED [MONDO:Lexical] +synonym: "taurine renal reabsorption" RELATED [] xref: MEDGEN:349470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:109660 {source="MONDO:equivalentTo"} xref: UMLS:C1862289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349470"} @@ -144238,9 +144250,9 @@ name: primary biliary cholangitis 1 subset: gard_rare {source="GARD:15043", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "biliary cirrhosis, primary, 1" RELATED [MONDO:Lexical, OMIM:109720] -synonym: "Pbc" RELATED [OMIM:109720] -synonym: "PBC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:109720] +synonym: "biliary cirrhosis, primary, 1" RELATED [MONDO:Lexical] +synonym: "Pbc" RELATED [] +synonym: "PBC1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070358 {source="MONDO:equivalentTo"} xref: GARD:15043 {source="MONDO:GARD"} xref: MEDGEN:1642459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -144260,9 +144272,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:402075"} subset: orphanet_rare {source="Orphanet:402075"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aortic valve disease 1" NARROW [MONDO:Lexical, OMIM:109730] -synonym: "aortic valve disease type 1" NARROW [MONDORULE:1, OMIM:109730] -synonym: "AOVD1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:109730] +synonym: "aortic valve disease 1" NARROW [MONDO:Lexical] +synonym: "aortic valve disease type 1" NARROW [MONDORULE:1] +synonym: "AOVD1" NARROW ABBREVIATION [MONDO:Lexical] synonym: "familial BAV" EXACT [Orphanet:402075] xref: DOID:0080332 {source="MONDO:equivalentTo"} xref: GARD:17670 {source="MONDO:GARD"} @@ -144305,10 +144317,10 @@ replaced_by: MONDO:0001187 id: MONDO:0007197 name: bladder diverticulum subset: otar {source="MONDO:OTAR"} -synonym: "bladder diverticulum" EXACT [MONDO:ambiguous, OMIM:109820] +synonym: "bladder diverticulum" EXACT [DOID:11353, MONDO:ambiguous, NCIT:C160155, OMIM:109820] synonym: "bladder diverticulum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "diverticulum - bladder" EXACT [DOID:11353] -synonym: "diverticulum of bladder" EXACT [DOID:11353] +synonym: "diverticulum of bladder" EXACT [DOID:11353, ICD10CM:N32.3] xref: DOID:11353 {source="MONDO:equivalentTo"} xref: HP:0000015 {source="MONDO:otherHierarchy"} xref: ICD10CM:N32.3 {source="MONDO:equivalentTo", source="DOID:11353"} @@ -144340,13 +144352,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:1253"} subset: orphanet_rare {source="Orphanet:1253"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ascher syndrome" EXACT [OMIM:109900] +synonym: "Ascher syndrome" EXACT [icd11.foundation:1063203220, OMIM:109900, Orphanet:1253] synonym: "Ascher's syndrome" RELATED [GARD:0000201] synonym: "blepharochalasis - double lip" RELATED [GARD:0000201] -synonym: "blepharochalasis and DOUBLE LIP" RELATED [OMIM:109900] -synonym: "blepharochalasis and Double lip" RELATED [OMIM:109900] +synonym: "blepharochalasis and DOUBLE LIP" RELATED [] +synonym: "blepharochalasis and Double lip" RELATED [] synonym: "blepharochalasis and double lip" RELATED [GARD:0000201] -synonym: "blepharochalasis and Double type lip" EXACT [MONDORULE:4, OMIM:109900] +synonym: "blepharochalasis and Double type lip" EXACT [MONDORULE:4] synonym: "blepharochalasis-double lip syndrome" EXACT [Orphanet:1253] synonym: "Double upper lip, blepharochalasis and enlargement of the thyroid" RELATED [GARD:0000201] xref: GARD:201 {source="MONDO:GARD"} @@ -144384,9 +144396,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1252"} subset: orphanet_rare {source="Orphanet:1252"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "blepharonasofacial malformation syndrome" EXACT [OMIM:110050] +synonym: "blepharonasofacial malformation syndrome" EXACT [OMIM:110050, Orphanet:1252] synonym: "Pashayan syndrome" EXACT [OMIM:110050, Orphanet:1252] -synonym: "Pashayan-Prozansky syndrome" EXACT [Orphanet:1252] +synonym: "Pashayan-Prozansky syndrome" EXACT [] xref: GARD:4238 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:1252", source="Orphanet:1252/attributed", source="Orphanet:1252/ntbt"} xref: MEDGEN:163226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -144412,25 +144424,25 @@ subset: orphanet_rare {source="Orphanet:126"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "blepharophimosis syndrome type 1" RELATED [GARD:0000023] -synonym: "blepharophimosis types 1 and 2" EXACT [Orphanet:126] -synonym: "blepharophimosis, epicanthus inversus, and ptosis, type 1" EXACT [OMIM:110100, OMIM:genemap2] -synonym: "blepharophimosis, epicanthus inversus, and ptosis, type 2" EXACT [OMIM:110100, OMIM:genemap2] +synonym: "blepharophimosis types 1 and 2" EXACT [] +synonym: "blepharophimosis, epicanthus inversus, and ptosis, type 1" EXACT [] +synonym: "blepharophimosis, epicanthus inversus, and ptosis, type 2" EXACT [] synonym: "blepharophimosis, ptosis, and epicanthus inversus" EXACT [MONDO:Lexical, OMIM:110100] -synonym: "blepharophimosis, ptosis, and epicanthus inversus syndrome" EXACT CLINGEN_LABEL [] +synonym: "blepharophimosis, ptosis, and epicanthus inversus syndrome" EXACT CLINGEN_LABEL [DOID:14778] synonym: "blepharophimosis, ptosis, and epicanthus inversus syndrome type 1" RELATED [GARD:0000023] synonym: "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome" EXACT [NORD:862] -synonym: "blepharophimosis, ptosis, epicanthus inversus syndrome" EXACT [DOID:14778] +synonym: "blepharophimosis, ptosis, epicanthus inversus syndrome" EXACT [] synonym: "blepharophimosis, ptosis, epicanthus inversus with ovarian failure" RELATED [GARD:0000023] -synonym: "blepharophimosis-epicanthus inversus-ptosis syndrome" EXACT [Orphanet:126] -synonym: "BPES" EXACT ABBREVIATION [MONDO:Lexical, OMIM:110100] +synonym: "blepharophimosis-epicanthus inversus-ptosis syndrome" EXACT [] +synonym: "BPES" EXACT ABBREVIATION [MONDO:Lexical, OMIM:110100, Orphanet:126] synonym: "BPES type 1" RELATED [GARD:0000023] -synonym: "BPES with Duane retraction syndrome" RELATED [OMIM:110100] -synonym: "BPES with ovarian failure" RELATED [OMIM:110100] +synonym: "BPES with Duane retraction syndrome" RELATED [] +synonym: "BPES with ovarian failure" RELATED [] synonym: "BPES with premature ovarian failure" RELATED [GARD:0000023] -synonym: "BPES without ovarian failure" RELATED [OMIM:110100] -synonym: "BPES, type 1" RELATED [OMIM:110100] -synonym: "BPES, type 2" RELATED [OMIM:110100] -synonym: "BPES, type I, autosomal recessive" RELATED [OMIM:110100] +synonym: "BPES without ovarian failure" RELATED [] +synonym: "BPES, type 1" RELATED [] +synonym: "BPES, type 2" RELATED [] +synonym: "BPES, type I, autosomal recessive" RELATED [] xref: DOID:14778 {source="MONDO:equivalentTo"} xref: GARD:23 {source="MONDO:GARD"} xref: ICD10CM:Q10.3 {source="Orphanet:126", source="Orphanet:126/attributed", source="Orphanet:126/ntbt"} @@ -144460,7 +144472,7 @@ subset: orphanet_rare {source="Orphanet:1259"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "blepharoptosis myopia ectopia lentis" RELATED [GARD:0000912] -synonym: "blepharoptosis, myopia, and ectopia lentis" RELATED [OMIM:110150] +synonym: "blepharoptosis, myopia, and ectopia lentis" RELATED [] synonym: "dominantly inherited blepharoptosis, high myopia, and ectopia lentis" RELATED [GARD:0000912] xref: GARD:912 {source="MONDO:GARD"} xref: ICD10CM:Q15.8 {source="Orphanet:1259", source="Orphanet:1259/attributed", source="Orphanet:1259/ntbt"} @@ -144485,8 +144497,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1059"} subset: orphanet_rare {source="Orphanet:1059"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bean syndrome" EXACT [OMIM:112200, Orphanet:1059] -synonym: "blue rubber bleb nevus" EXACT [OMIM:112200] +synonym: "bean syndrome" EXACT [NCIT:C4486, OMIM:112200, Orphanet:1059] +synonym: "blue rubber bleb nevus" EXACT [NCIT:C4486, OMIM:112200, Orphanet:1059] synonym: "Blue Rubber Bleb Nevus syndrome" EXACT [NORD:865] synonym: "blue rubber bleb nevus syndrome" EXACT [GARD:0005940] synonym: "BRBN" EXACT ABBREVIATION [Orphanet:1059] @@ -144515,12 +144527,12 @@ def: "Any Cole-Carpenter syndrome in which the cause of the disease is a mutatio subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features" RELATED [OMIM:112240] -synonym: "CLCRP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112240] -synonym: "COLE-CARPENTER syndrome 1" RELATED [OMIM:112240] +synonym: "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features" RELATED [] +synonym: "CLCRP1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "COLE-CARPENTER syndrome 1" RELATED [] synonym: "Cole-Carpenter syndrome 1" EXACT [MONDO:Lexical, OMIM:112240] synonym: "Cole-Carpenter syndrome caused by mutation in P4HB" EXACT [MONDO:design_pattern] -synonym: "Cole-Carpenter syndrome type 1" EXACT [MONDORULE:1, OMIM:112240] +synonym: "Cole-Carpenter syndrome type 1" EXACT [MONDORULE:1] synonym: "P4HB Cole-Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:1374755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:112240 {source="MONDO:equivalentTo"} @@ -144545,17 +144557,17 @@ subset: orphanet_rare {source="Orphanet:85182"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDMF" RELATED ABBREVIATION [GARD:0010072] -synonym: "bone dysplasia with malignant fibrous histiocytoma" RELATED [OMIM:112250] -synonym: "bone dysplasia with medullary fibrosarcoma" RELATED [OMIM:112250] -synonym: "bone dysplasia-medullary fibrosarcoma syndrome" EXACT [Orphanet:85182] -synonym: "diaphyseal medullary stenosis with malignant fibrous histiocytoma" RELATED [MONDO:Lexical, OMIM:112250] -synonym: "diaphyseal medullary stenosis-bone malignancy syndrome" EXACT CLINGEN_LABEL [] -synonym: "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" EXACT [Orphanet:85182] -synonym: "DMS-MFH" EXACT [NCIT:C122660] -synonym: "DMSMFH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112250] -synonym: "Hardcastle syndrome" EXACT [Orphanet:85182] +synonym: "bone dysplasia with malignant fibrous histiocytoma" RELATED [] +synonym: "bone dysplasia with medullary fibrosarcoma" RELATED [] +synonym: "bone dysplasia-medullary fibrosarcoma syndrome" EXACT [DOID:0080664, Orphanet:85182] +synonym: "diaphyseal medullary stenosis with malignant fibrous histiocytoma" RELATED [MONDO:Lexical] +synonym: "diaphyseal medullary stenosis-bone malignancy syndrome" EXACT CLINGEN_LABEL [Orphanet:85182] +synonym: "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" EXACT [DOID:0080664, Orphanet:85182] +synonym: "DMS-MFH" EXACT ABBREVIATION [NCIT:C122660] +synonym: "DMSMFH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Hardcastle syndrome" EXACT [DOID:0080664, Orphanet:85182] synonym: "Hardcastle's syndrome" EXACT [NCIT:C122660] -synonym: "myopathy, limb-girdle, with bone fragility" RELATED [OMIM:112250] +synonym: "myopathy, limb-girdle, with bone fragility" RELATED [] xref: DOID:0080664 {source="MONDO:equivalentTo"} xref: GARD:10072 {source="MONDO:GARD"} xref: ICD10CM:M89.8 {source="Orphanet:85182/attributed", source="Orphanet:85182/ntbt", source="Orphanet:85182"} @@ -144597,7 +144609,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "book syndrome" EXACT [OMIM:112300] synonym: "Böök syndrome" EXACT [Orphanet:1262] -synonym: "PHC syndrome" RELATED [OMIM:112300] +synonym: "PHC syndrome" RELATED [] synonym: "premolar aplasia, hyperhidrosis, and canities prematura" RELATED [GARD:0000932] xref: GARD:932 {source="MONDO:GARD"} xref: ICD10CM:Q82.4 {source="Orphanet:1262/attributed", source="Orphanet:1262/ntbt", source="Orphanet:1262"} @@ -144619,7 +144631,7 @@ subset: ordo_disorder {source="Orphanet:1263"} subset: orphanet_rare {source="Orphanet:1263"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Boomerang dysplasia" EXACT [OMIM:112310] +synonym: "Boomerang dysplasia" EXACT [DOID:0050680, icd11.foundation:423736259, OMIM:112310, Orphanet:1263] synonym: "Boomerang-like skeletal dysplasia" RELATED [GARD:0000933] synonym: "dwarfism with short, bowed, rigid limbs and characteristic facies" RELATED [GARD:0000933] xref: DOID:0050680 {source="MONDO:equivalentTo"} @@ -144653,14 +144665,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anterior bowing of legs with dwarfism" EXACT [Orphanet:3344] synonym: "bowing of legs, anterior with dwarfism" RELATED [GARD:0005232] -synonym: "bowing of legs, anterior, with dwarfism" RELATED [OMIM:112350] -synonym: "Toxopachyosteose Diaphysaire Tibio-Peroniere" RELATED [OMIM:112350] +synonym: "bowing of legs, anterior, with dwarfism" RELATED [] +synonym: "Toxopachyosteose Diaphysaire Tibio-Peroniere" RELATED [] synonym: "Weismann Netter Stuhl Syndrome" EXACT [NORD:1843] synonym: "Weismann Netter syndrome" EXACT [GARD:0005232] -synonym: "WEISMANN-NETTER syndrome" EXACT [OMIM:112350] -synonym: "Weismann-Netter syndrome" EXACT [MONDO:Lexical, OMIM:112350] +synonym: "WEISMANN-NETTER syndrome" EXACT [icd11.foundation:180927608, OMIM:112350, Orphanet:3344] +synonym: "Weismann-Netter syndrome" EXACT [icd11.foundation:180927608, MONDO:Lexical, OMIM:112350, Orphanet:3344] synonym: "Weismann-Netter-Stuhl syndrome" EXACT [Orphanet:3344] -synonym: "WNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:112350] +synonym: "WNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:112350, Orphanet:3344] xref: GARD:5232 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:3344/attributed", source="Orphanet:3344/ntbt", source="Orphanet:3344"} xref: icd11.foundation:180927608 {source="MONDO:equivalentTo"} @@ -144694,14 +144706,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:1276"} subset: orphanet_rare {source="Orphanet:1276"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bilginturan brachydactyly" EXACT [Orphanet:1276] -synonym: "Bilginturan syndrome" EXACT [OMIM:112410, Orphanet:1276] +synonym: "Bilginturan brachydactyly" EXACT [DOID:0111247, Orphanet:1276] +synonym: "Bilginturan syndrome" EXACT [DOID:0111247, OMIM:112410, Orphanet:1276] synonym: "brachydactyly type E with short stature and hypertension" RELATED [GARD:0000967] synonym: "brachydactyly type E, with short stature and hypertension" EXACT [Orphanet:1276] -synonym: "brachydactyly with hypertension" RELATED [OMIM:112410] -synonym: "brachydactyly, type E, with short stature and hypertension" RELATED [OMIM:112410] -synonym: "HTNB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:112410] -synonym: "hypertension and brachydactyly syndrome" RELATED [MONDO:Lexical, OMIM:112410] +synonym: "brachydactyly with hypertension" RELATED [] +synonym: "brachydactyly, type E, with short stature and hypertension" RELATED [] +synonym: "HTNB" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypertension and brachydactyly syndrome" RELATED [MONDO:Lexical] xref: DOID:0111247 {source="MONDO:equivalentTo"} xref: GARD:967 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="Orphanet:1276/attributed", source="Orphanet:1276/ntbt", source="Orphanet:1276"} @@ -144732,8 +144744,8 @@ subset: orphanet_rare {source="Orphanet:2946"} subset: rare synonym: "brachydactyly long thumb type" RELATED [GARD:0000968] synonym: "brachydactyly, long thumb type" EXACT [Orphanet:2946] -synonym: "brachydactyly, long-thumb type" RELATED [OMIM:112430] -synonym: "long-thumb brachydactyly syndrome" RELATED [GARD:0000968, OMIM:112430] +synonym: "brachydactyly, long-thumb type" RELATED [] +synonym: "long-thumb brachydactyly syndrome" RELATED [GARD:0000968] xref: GARD:968 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:2946", source="Orphanet:2946/attributed", source="Orphanet:2946/ntbt"} xref: MEDGEN:350609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -144754,11 +144766,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:93395"} synonym: "Ballard type brachydactyly" EXACT [DOID:0110963] synonym: "brachydactyly Ballard type" RELATED [GARD:0000959] synonym: "brachydactyly combined B and E types" RELATED [GARD:0000959] -synonym: "brachydactyly types B and E combined" EXACT [DOID:0110963, Orphanet:93395] -synonym: "brachydactyly, Ballard type" RELATED [OMIM:112440] -synonym: "brachydactyly, combined B and E types" RELATED [OMIM:112440] +synonym: "brachydactyly types B and E combined" EXACT [DOID:0110963, icd11.foundation:94436217] +synonym: "brachydactyly, Ballard type" RELATED [] +synonym: "brachydactyly, combined B and E types" RELATED [] synonym: "Pitt Williams brachydactyly" RELATED [GARD:0000959] -synonym: "Pitt-Williams brachydactyly" EXACT [DOID:0110963, OMIM:112440, Orphanet:93395] +synonym: "Pitt-Williams brachydactyly" EXACT [DOID:0110963, icd11.foundation:94436217, OMIM:112440] xref: DOID:0110963 {source="MONDO:equivalentTo"} xref: ICD10CM:Q73.8 {source="DOID:0110963", source="Orphanet:93395", source="Orphanet:93395/attributed", source="Orphanet:93395/ntbt"} xref: icd11.foundation:94436217 {source="MONDO:equivalentTo"} @@ -144781,7 +144793,7 @@ subset: orphanet_rare {source="Orphanet:1278"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "brachydactyly preaxial with hallux varus and thumb abduction" RELATED [GARD:0000972] -synonym: "brachydactyly, preaxial, with hallux varus and thumb abduction" RELATED [OMIM:112450] +synonym: "brachydactyly, preaxial, with hallux varus and thumb abduction" RELATED [] synonym: "Christian brachydactyly" EXACT [DOID:0110962, OMIM:112450] synonym: "dominant preaxial brachydactyly with hallux varus and thumb abduction" RELATED [GARD:0000972] synonym: "preaxial brachydactyly with hallux varus and thumb abduction" EXACT [DOID:0110962] @@ -144809,9 +144821,9 @@ subset: rare synonym: "BDA1" EXACT ABBREVIATION [DOID:0110964, MONDO:Lexical, OMIM:112500] synonym: "brachydactyly Farabee type" RELATED [GARD:0000978] synonym: "brachydactyly, Farabee type" EXACT [Orphanet:93388] -synonym: "brachydactyly, type A1" RELATED [MONDO:Lexical, OMIM:112500] +synonym: "brachydactyly, type A1" RELATED [MONDO:Lexical] synonym: "Farabee type brachydactyly" EXACT [DOID:0110964] -synonym: "Farabee-type brachydactyly" RELATED [OMIM:112500] +synonym: "Farabee-type brachydactyly" RELATED [] xref: DOID:0110964 {source="MONDO:equivalentTo"} xref: GARD:978 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="Orphanet:93388/attributed", source="Orphanet:93388/ntbt", source="Orphanet:93388"} @@ -144840,8 +144852,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDA2" EXACT ABBREVIATION [DOID:0110965, MONDO:Lexical, OMIM:112600] synonym: "brachydactyly, Mohr-Wriedt type" EXACT [Orphanet:93396] -synonym: "brachydactyly, type A2" RELATED [MONDO:Lexical, OMIM:112600] -synonym: "Brachymesophalangy 2" RELATED [OMIM:112600] +synonym: "brachydactyly, type A2" RELATED [MONDO:Lexical] +synonym: "Brachymesophalangy 2" RELATED [] synonym: "brachymesophalangy II" EXACT [DOID:0110965] synonym: "Brachymesophalangy type 2" RELATED [GARD:0000989] synonym: "Mohr-Wriedt type brachydactyly" EXACT [DOID:0110965, OMIM:112600] @@ -144867,10 +144879,10 @@ subset: gard_rare {source="GARD:963", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BDA3" EXACT ABBREVIATION [DOID:0110966, MONDO:Lexical, OMIM:112700] -synonym: "brachydactyly, type A3" RELATED [MONDO:Lexical, OMIM:112700] -synonym: "brachydactyly-clinodactyly" EXACT [DOID:0110966, OMIM:112700, Orphanet:93393] -synonym: "Brachymesophalangy 5" RELATED [OMIM:112700] -synonym: "brachymesophalangy V" EXACT [DOID:0110966, Orphanet:93393] +synonym: "brachydactyly, type A3" RELATED [MONDO:Lexical] +synonym: "brachydactyly-clinodactyly" EXACT [DOID:0110966, OMIM:112700] +synonym: "Brachymesophalangy 5" RELATED [] +synonym: "brachymesophalangy V" EXACT [DOID:0110966] xref: DOID:0110966 {source="MONDO:equivalentTo"} xref: GARD:963 {source="MONDO:GARD"} xref: icd11.foundation:153446585 {source="MONDO:equivalentTo"} @@ -144896,10 +144908,10 @@ subset: rare synonym: "BDA4" EXACT ABBREVIATION [DOID:0110967, MONDO:Lexical, OMIM:112800] synonym: "brachydactyly Temtamy type" RELATED [GARD:0000990] synonym: "brachydactyly, Temtamy type" EXACT [Orphanet:93394] -synonym: "brachydactyly, type A4" RELATED [MONDO:Lexical, OMIM:112800] -synonym: "Brachymesophalangy 2 and 5" RELATED [OMIM:112800] -synonym: "Brachymesophalangy II and V" EXACT [Orphanet:93394] -synonym: "brachymesophalangy II and V" EXACT [DOID:0110967] +synonym: "brachydactyly, type A4" RELATED [MONDO:Lexical] +synonym: "Brachymesophalangy 2 and 5" RELATED [] +synonym: "Brachymesophalangy II and V" EXACT [DOID:0110967, Orphanet:93394] +synonym: "brachymesophalangy II and V" EXACT [DOID:0110967, Orphanet:93394] synonym: "Temtamy type brachydactyly" EXACT [DOID:0110967, OMIM:112800] xref: DOID:0110967 {source="MONDO:equivalentTo"} xref: GARD:990 {source="MONDO:GARD"} @@ -144926,12 +144938,12 @@ subset: orphanet_rare {source="Orphanet:93382"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDA6" EXACT ABBREVIATION [DOID:0110968] -synonym: "brachydactyly type A6" EXACT [OMIM:112910] +synonym: "brachydactyly type A6" EXACT [DOID:0110968, Orphanet:93382] synonym: "brachydactyly, type A6" EXACT [OMIM:112910] -synonym: "Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" RELATED [OMIM:112910] -synonym: "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" EXACT [DOID:0110968] -synonym: "OSEBOLD-Remondini syndrome" RELATED [OMIM:112910] -synonym: "Osebold-Remondini syndrome" EXACT [DOID:0110968, Orphanet:93382] +synonym: "Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" RELATED [] +synonym: "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" EXACT [DOID:0110968, OMIM:112910] +synonym: "OSEBOLD-Remondini syndrome" RELATED [] +synonym: "Osebold-Remondini syndrome" EXACT [DOID:0110968, OMIM:112910, Orphanet:93382] xref: DOID:0110968 {source="MONDO:equivalentTo"} xref: GARD:983 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="DOID:0110968", source="Orphanet:93382/attributed", source="Orphanet:93382/ntbt", source="Orphanet:93382"} @@ -144957,8 +144969,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDB1" EXACT ABBREVIATION [DOID:0110969, MONDO:Lexical, OMIM:113000] synonym: "brachydactyly type B caused by mutation in ROR2" EXACT [MONDO:design_pattern] -synonym: "brachydactyly, type B" RELATED [OMIM:113000] -synonym: "brachydactyly, type B1" RELATED [MONDO:Lexical, OMIM:113000] +synonym: "brachydactyly, type B" RELATED [] +synonym: "brachydactyly, type B1" RELATED [MONDO:Lexical] synonym: "ROR2 brachydactyly type B" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110969 {source="MONDO:equivalentTo"} xref: GARD:18009 {source="MONDO:GARD"} @@ -144984,11 +144996,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:93384"} subset: orphanet_rare {source="Orphanet:93384"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BDC" RELATED EXCLUDE [DOID:0110970, MONDO:Lexical, OMIM:113100] +synonym: "BDC" RELATED EXCLUDE [MONDO:Lexical] synonym: "brachydactyly Haws type" RELATED [GARD:0000986] -synonym: "brachydactyly type C" EXACT CLINGEN_LABEL [] -synonym: "brachydactyly, Haws type" RELATED [OMIM:113100] -synonym: "brachydactyly, type C" RELATED [MONDO:Lexical, OMIM:113100] +synonym: "brachydactyly type C" EXACT CLINGEN_LABEL [DOID:0110970, icd11.foundation:956707061, Orphanet:93384] +synonym: "brachydactyly, Haws type" RELATED [] +synonym: "brachydactyly, type C" RELATED [MONDO:Lexical] xref: DOID:0110970 {source="MONDO:equivalentTo"} xref: GARD:986 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="Orphanet:93384", source="Orphanet:93384/attributed", source="Orphanet:93384/ntbt", source="DOID:0110970"} @@ -145010,8 +145022,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BDD" EXACT ABBREVIATION [DOID:0110971, MONDO:Lexical, OMIM:113200] -synonym: "brachydactyly, type D" RELATED [MONDO:Lexical, OMIM:113200] -synonym: "stub thumb" RELATED [OMIM:113200] +synonym: "brachydactyly, type D" RELATED [MONDO:Lexical] +synonym: "stub thumb" RELATED [] xref: DOID:0110971 {source="MONDO:equivalentTo"} xref: icd11.foundation:642882691 {source="MONDO:equivalentTo"} xref: MEDGEN:66313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -145032,8 +145044,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BDE1" EXACT ABBREVIATION [DOID:0110972, MONDO:Lexical, OMIM:113300] synonym: "brachydactyly type E caused by mutation in HOXD13" EXACT [MONDO:design_pattern] -synonym: "brachydactyly, type E" RELATED [OMIM:113300] -synonym: "brachydactyly, type E1" RELATED [MONDO:Lexical, OMIM:113300] +synonym: "brachydactyly, type E" RELATED [] +synonym: "brachydactyly, type E1" RELATED [MONDO:Lexical] synonym: "HOXD13 brachydactyly type E" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110972 {source="MONDO:equivalentTo"} xref: MEDGEN:396291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -145051,7 +145063,7 @@ id: MONDO:0007224 name: brachydactyly, type E, with atrial septal defect, type 2 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "brachydactyly, type E, with atrial septal defect, type II" RELATED [OMIM:113301] +synonym: "brachydactyly, type E, with atrial septal defect, type II" RELATED [] xref: MEDGEN:354662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566193 {source="MONDO:equivalentTo"} xref: OMIM:113301 {source="MONDO:equivalentTo"} @@ -145069,7 +145081,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1118"} subset: orphanet_rare {source="Orphanet:1118"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" RELATED [OMIM:113310] +synonym: "brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" RELATED [] synonym: "fibular aplasia ectrodactyly" RELATED [GARD:0002331] xref: GARD:2331 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="Orphanet:1118", source="Orphanet:1118/attributed", source="Orphanet:1118/ntbt"} @@ -145101,7 +145113,7 @@ synonym: "Biemond syndrome" EXACT [Orphanet:1246] synonym: "Biemond syndrome type 1" RELATED [GARD:0000881] synonym: "brachydactyly - nystagmus - cerebellar ataxia" RELATED [GARD:0000971] synonym: "brachydactyly, nystagmus and cerebellar ataxia" RELATED [GARD:0000971] -synonym: "brachydactyly-NYSTAGMUS-cerebellar ataxia" RELATED [OMIM:113400] +synonym: "brachydactyly-NYSTAGMUS-cerebellar ataxia" RELATED [] xref: GARD:971 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1246/attributed", source="Orphanet:1246/ntbt", source="Orphanet:1246"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -145126,7 +145138,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:3168"} subset: orphanet_rare {source="Orphanet:3168"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brachydactyly-distal symphalangism syndrome" RELATED [GARD:0004869, OMIM:113450] +synonym: "brachydactyly-distal symphalangism syndrome" RELATED [GARD:0004869] synonym: "brachydactyly-symphalangism syndrome" EXACT [Orphanet:3168] xref: GARD:4869 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:3168/attributed", source="Orphanet:3168/ntbt", source="Orphanet:3168"} @@ -145153,10 +145165,10 @@ is_a: MONDO:0003847 {source="MESH:C537096/inferred"} ! hereditary disease [Term] id: MONDO:0007229 name: Brachymetatarsus 4 -synonym: "BRACHYMETATARSUS IV" RELATED [OMIM:113475] -synonym: "Brachymetatarsus type 4" EXACT [MONDORULE:1, OMIM:113475] -synonym: "metatarsus IV, short" RELATED [OMIM:113475] -synonym: "toe, fourth, short" RELATED [OMIM:113475] +synonym: "BRACHYMETATARSUS IV" RELATED [] +synonym: "Brachymetatarsus type 4" EXACT [MONDORULE:1] +synonym: "metatarsus IV, short" RELATED [] +synonym: "toe, fourth, short" RELATED [] xref: MEDGEN:396286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:113475 {source="MONDO:equivalentTo"} xref: UMLS:C1862083 {source="MEDGEN:396286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -145174,7 +145186,7 @@ subset: orphanet_rare {source="Orphanet:1292"} subset: rare synonym: "bod syndrome" EXACT [OMIM:113477, Orphanet:1292] synonym: "Brachymorphism onychodysplasia dysphalangism syndrome" RELATED [GARD:0000918] -synonym: "Brachymorphism-onychodysplasia-dysphalangism syndrome" EXACT [OMIM:113477] +synonym: "Brachymorphism-onychodysplasia-dysphalangism syndrome" EXACT [OMIM:113477, Orphanet:1292] synonym: "Senior syndrome" EXACT [Orphanet:1292] xref: GARD:918 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:1292/attributed", source="Orphanet:1292/ntbt", source="Orphanet:1292"} @@ -145202,7 +145214,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1295"} subset: orphanet_rare {source="Orphanet:1295"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" RELATED [OMIM:113480] +synonym: "BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome" RELATED [] xref: GARD:16562 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:1295/attributed", source="Orphanet:1295/ntbt", source="Orphanet:1295"} xref: MEDGEN:444052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -145228,11 +145240,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:93304"} subset: orphanet_rare {source="Orphanet:93304"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BCYM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113500] +synonym: "BCYM3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "brachyolmia autosomal dominant" RELATED [GARD:0010429] synonym: "brachyolmia type 3" EXACT [MONDO:Lexical, OMIM:113500, Orphanet:93304] synonym: "brachyolmia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:113500] -synonym: "brachyrachia" RELATED [OMIM:113500] +synonym: "brachyrachia" RELATED [] xref: GARD:10429 {source="MONDO:GARD"} xref: ICD10CM:Q76.3 {source="Orphanet:93304", source="Orphanet:93304/attributed", source="Orphanet:93304/ntbt"} xref: MEDGEN:96583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -145260,9 +145272,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:141022"} subset: orphanet_rare {source="Orphanet:141022"} subset: rare synonym: "branchial cleft" EXACT [NCIT:C104813] -synonym: "branchial cleft anomalies" RELATED [OMIM:113600] +synonym: "branchial cleft anomalies" RELATED [] synonym: "branchial cleft remnant" EXACT [NCIT:C104813] -synonym: "branchial cysts" RELATED [OMIM:113600] +synonym: "branchial cysts" RELATED [] synonym: "second branchial cleft cyst" EXACT [Orphanet:141022] synonym: "second branchial cleft fistula" EXACT [Orphanet:141022] xref: GARD:16968 {source="MONDO:GARD"} @@ -145306,7 +145318,7 @@ synonym: "branchial clefts with characteristic facies, growth retardation, imper synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging" EXACT [OMIM:113620] synonym: "Branchio Oculo Facial Syndrome" EXACT [NORD:871] synonym: "branchio-oculo-facial syndrome" EXACT [Orphanet:1297] -synonym: "branchiooculofacial syndrome" EXACT [MONDO:Lexical, OMIM:113620] +synonym: "branchiooculofacial syndrome" EXACT [DOID:0050691, MONDO:Lexical, OMIM:113620] synonym: "hemangiomatous branchial clefts-Lip Pseudocleft syndrome" EXACT [OMIM:113620] synonym: "lip Pseudocleft-Hemangiomatous branchial cyst syndrome" EXACT [OMIM:113620] xref: DOID:0050691 {source="MONDO:equivalentTo"} @@ -145330,12 +145342,12 @@ id: MONDO:0007236 name: branchiootorenal syndrome 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "BOR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113650] -synonym: "branchiootorenal dysplasia" RELATED [OMIM:113650] -synonym: "branchiootorenal syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:113650] -synonym: "branchiootorenal syndrome 1, with or without cataracts" EXACT [OMIM:113650, OMIM:genemap2] -synonym: "branchiootorenal syndrome type 1" EXACT [MONDORULE:1, OMIM:113650] -synonym: "Melnick-Fraser syndrome" RELATED [OMIM:113650] +synonym: "BOR1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "branchiootorenal dysplasia" RELATED [] +synonym: "branchiootorenal syndrome 1" EXACT CLINGEN_LABEL [DOID:0111423, MONDO:Lexical, OMIM:113650] +synonym: "branchiootorenal syndrome 1, with or without cataracts" EXACT [] +synonym: "branchiootorenal syndrome type 1" EXACT [MONDORULE:1] +synonym: "Melnick-Fraser syndrome" RELATED [] xref: DOID:0111423 {source="MONDO:equivalentTo"} xref: MEDGEN:1632634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:113650 {source="MONDO:equivalentTo"} @@ -145357,9 +145369,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:180176"} subset: orphanet_rare {source="Orphanet:180176"} subset: rare synonym: "familial juvenile gigantomastia" EXACT [Orphanet:180176] -synonym: "gigantomastia, juvenile" RELATED [OMIM:113670] -synonym: "hypertrophy of the breast, juvenile" RELATED [MONDO:Lexical, OMIM:113670] -synonym: "JHB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113670] +synonym: "gigantomastia, juvenile" RELATED [] +synonym: "hypertrophy of the breast, juvenile" RELATED [MONDO:Lexical] +synonym: "JHB" RELATED ABBREVIATION [MONDO:Lexical] synonym: "juvenile gigantomastia" EXACT [Wikipedia:Breast_hypertrophy] synonym: "juvenile macromastia" EXACT [Wikipedia:Breast_hypertrophy] synonym: "virginal breast hypertrophy" EXACT [Orphanet:180176, Wikipedia:Breast_hypertrophy] @@ -145382,11 +145394,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "absent breasts and nipples" RELATED [GARD:0009489] -synonym: "amastia" EXACT [GARD:0009489] -synonym: "amazia" RELATED [OMIM:113700] -synonym: "athelia" RELATED [MESH:C535565, OMIM:113700] -synonym: "BNAH1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:113700] -synonym: "breasts and/or nipples, aplasia or hypoplasia of, 1" RELATED [MONDO:Lexical, OMIM:113700] +synonym: "amastia" EXACT [GARD:0009489, NCIT:C118459] +synonym: "amazia" RELATED [] +synonym: "athelia" RELATED [MESH:C535565] +synonym: "BNAH1" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "breasts and/or nipples, aplasia or hypoplasia of, 1" RELATED [MONDO:Lexical] synonym: "complete absence of breasts" RELATED [GARD:0009489, MESH:C535565] xref: MESH:C535565 {source="MONDO:equivalentTo"} xref: NCIT:C118459 {source="MONDO:equivalentTo"} @@ -145404,21 +145416,21 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1100"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant epidermolytic ichthyosis" NARROW [Orphanet:312] -synonym: "BCIE" EXACT ABBREVIATION [Orphanet:312] -synonym: "bullous congenital ichthyosiform erythroderma" EXACT [DOID:4603, OMIM:113800, Orphanet:312] -synonym: "bullous congenital ichthyosiform erythroderma of Brock" EXACT [Orphanet:312] -synonym: "bullous erythroderma Ichthyosiformis congenita of Brocq" RELATED [OMIM:113800] -synonym: "bullous ichthyosiform erythroderma" RELATED [OMIM:113800] +synonym: "autosomal dominant epidermolytic ichthyosis" NARROW [] +synonym: "BCIE" EXACT ABBREVIATION [] +synonym: "bullous congenital ichthyosiform erythroderma" EXACT [] +synonym: "bullous congenital ichthyosiform erythroderma of Brock" EXACT [] +synonym: "bullous erythroderma Ichthyosiformis congenita of Brocq" RELATED [] +synonym: "bullous ichthyosiform erythroderma" RELATED [] synonym: "bullous ichthyosiform erythroderma congenita" RELATED [GARD:0001039] -synonym: "bullous ichthyosis" EXACT [Orphanet:312] +synonym: "bullous ichthyosis" EXACT [] synonym: "congenital bullous ichthyosiform erythroderma" RELATED [GARD:0001039] -synonym: "EHK" EXACT ABBREVIATION [MONDO:Lexical, OMIM:113800, Orphanet:312] -synonym: "EI" EXACT ABBREVIATION [Orphanet:312] -synonym: "epidermolytic hyperkeratosis" EXACT [MONDO:0957316] -synonym: "epidermolytic ichthyosis" EXACT [OMIM:113800, PMID:20643494] +synonym: "EHK" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "EI" EXACT ABBREVIATION [] +synonym: "epidermolytic hyperkeratosis" EXACT [DOID:4603, icd11.foundation:1183730789, MONDO:0957316, OMIMPS:113800] +synonym: "epidermolytic ichthyosis" EXACT [DOID:4603, icd11.foundation:1183730789, PMID:20643494] synonym: "epidermolytic palmoplantar hyperkeratosis" EXACT [DOID:4603] -synonym: "ichthyosis hystrix Brocq type" EXACT [Orphanet:312] +synonym: "ichthyosis hystrix Brocq type" EXACT [] xref: DOID:4603 {source="MONDO:equivalentTo"} xref: ICD10CM:Q80.3 {source="Orphanet:312", source="Orphanet:312/e", source="DOID:4603", source="Orphanet:312/specific"} xref: icd11.foundation:1183730789 {source="MONDO:equivalentTo"} @@ -145443,24 +145455,24 @@ def: "An autosomal dominant inherited cardiac bundle branch disorder which can p comment: Editor note: consider separating acquired and inherited subset: gard_rare {source="GARD:1093", source="MONDO:GARD"} subset: rare -synonym: "bundle branch block" RELATED EXCLUDE [OMIM:113900] -synonym: "Cardiac conduction defect, nonprogressive" RELATED [OMIM:113900] -synonym: "Cardiac conduction defect, progressive" RELATED [OMIM:113900] +synonym: "bundle branch block" RELATED EXCLUDE [] +synonym: "Cardiac conduction defect, nonprogressive" RELATED [] +synonym: "Cardiac conduction defect, progressive" RELATED [] synonym: "heart block progressive familial type 1" RELATED [GARD:0001093] -synonym: "heart block, nonprogressive" RELATED [OMIM:113900] -synonym: "heart block, progressive familial, type 1" RELATED [OMIM:113900] -synonym: "heart block, progressive, type IA" EXACT [OMIM:113900, OMIM:genemap2] -synonym: "hereditary bundle branch system defect" RELATED [OMIM:113900] +synonym: "heart block, nonprogressive" RELATED [] +synonym: "heart block, progressive familial, type 1" RELATED [] +synonym: "heart block, progressive, type IA" EXACT [] +synonym: "hereditary bundle branch system defect" RELATED [] synonym: "Lenegre disease" RELATED [Wikipedia:Lev%27s_disease] -synonym: "Lenegre's disease" EXACT [Wikipedia:Lev%27s_disease] +synonym: "Lenegre's disease" EXACT [NCIT:C126651, Wikipedia:Lev%27s_disease] synonym: "Lenegre's syndrome" RELATED [Wikipedia:Lev%27s_disease] -synonym: "Lenegre-Lev disease" RELATED [OMIM:113900] +synonym: "Lenegre-Lev disease" RELATED [] synonym: "Lev disease" RELATED [Wikipedia:Lev%27s_disease] -synonym: "PFHB1A" EXACT ABBREVIATION [DOID:0111074, GARD:0001093, MONDO:Lexical, OMIM:113900] +synonym: "PFHB1A" EXACT ABBREVIATION [DOID:0111074, GARD:0001093, MONDO:Lexical, NCIT:C126651, OMIM:113900] synonym: "progressive familial heart block caused by mutation in SCN5A" EXACT [MONDO:design_pattern] synonym: "progressive familial heart block type 1A" RELATED [GARD:0001093] -synonym: "progressive familial heart block type IA" RELATED [DOID:0111074] -synonym: "progressive familial heart block, type IA" EXACT [MONDO:Lexical, OMIM:113900] +synonym: "progressive familial heart block type IA" RELATED [] +synonym: "progressive familial heart block, type IA" EXACT [MONDO:Lexical, NCIT:C126651] synonym: "SCN5A progressive familial heart block" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111074 {source="MONDO:equivalentTo"} xref: GARD:1093 {source="MONDO:GARD"} @@ -145494,7 +145506,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007242 name: butyrylesterase 1 synonym: "butyrylesterase 1" EXACT [OMIM:113960] -synonym: "Butyrylesterase type 1" EXACT [MONDORULE:1, OMIM:113960] +synonym: "Butyrylesterase type 1" EXACT [MONDORULE:1] xref: MEDGEN:396267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:113960 {source="MONDO:equivalentTo"} xref: UMLS:C1861981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:396267"} @@ -145510,10 +145522,10 @@ subset: ordo_disorder {source="Orphanet:543"} subset: orphanet_rare {source="Orphanet:543"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:113970] -synonym: "Burkitt lymphoma" EXACT [MONDO:Lexical, NCIT:C2912, OMIM:113970] -synonym: "burkitt lymphoma, somatic" EXACT [OMIM:113970, OMIM:genemap2] -synonym: "Burkitt lymphoma/leukemia" EXACT [DOID:8584] +synonym: "BL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Burkitt lymphoma" EXACT [DOID:8584, MONDO:Lexical, NCIT:C2912, OMIM:113970, Orphanet:543] +synonym: "burkitt lymphoma, somatic" EXACT [] +synonym: "Burkitt lymphoma/leukemia" EXACT [] synonym: "Burkitt's lymphoma" EXACT [DOID:8584, MTH:NOCODE, NCIT:C2912] synonym: "Burkitt's tumor" EXACT [DOID:8584] synonym: "Burkitt's tumor or lymphoma" EXACT [DOID:8584] @@ -145570,7 +145582,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1310"} subset: orphanet_rare {source="Orphanet:1310"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Caffey disease" EXACT [NCIT:C118423, OMIM:114000] +synonym: "Caffey disease" EXACT [DOID:4257, NCIT:C118423, OMIM:114000, Orphanet:1310] synonym: "cortical congenital hyperostosis" EXACT [DOID:4257] synonym: "infantile cortical hyperostosis" EXACT [DOID:4257, NCIT:C118423, OMIM:114000, Orphanet:1310] xref: DOID:4257 {source="MONDO:equivalentTo"} @@ -145607,14 +145619,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant café au lait spots" EXACT [GARD:0003967] synonym: "cafe-au-lait spots, multiple" EXACT [GARD:0001050, OMIM:114030] -synonym: "familial cafe-au-lait spots" EXACT [GARD:0003967, Orphanet:267] -synonym: "familial café-au-lait spots" EXACT [GARD:0003967, Orphanet:2678] -synonym: "multiple cafe-au-lait spots" EXACT [GARD:0003967, Orphanet:2678] -synonym: "multiple cafe-au-lait syndrome" EXACT [GARD:0003967, Orphanet:2678] -synonym: "multiple café-au-lait spots" EXACT [GARD:0003967, Orphanet:2678] -synonym: "multiple café-au-lait syndrome" EXACT [GARD:0003967, Orphanet:2678] -synonym: "neurofibromatosis type 6" EXACT [GARD:0003967, Orphanet:2678] -synonym: "NF6" EXACT ABBREVIATION [GARD:0003967, Orphanet:2678] +synonym: "familial cafe-au-lait spots" EXACT [GARD:0003967] +synonym: "familial café-au-lait spots" EXACT [GARD:0003967] +synonym: "multiple cafe-au-lait spots" EXACT [GARD:0003967] +synonym: "multiple cafe-au-lait syndrome" EXACT [GARD:0003967] +synonym: "multiple café-au-lait spots" EXACT [GARD:0003967] +synonym: "multiple café-au-lait syndrome" EXACT [GARD:0003967] +synonym: "neurofibromatosis type 6" EXACT [GARD:0003967] +synonym: "NF6" EXACT ABBREVIATION [GARD:0003967] xref: GARD:3967 {source="MONDO:GARD"} xref: ICD10CM:L81.3 {source="Orphanet:2678", source="Orphanet:2678/specific", source="Orphanet:2678/e"} xref: MEDGEN:396266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -145645,11 +145657,11 @@ subset: rare synonym: "basal ganglia calcification, idiopathic, childhood-onset" EXACT [OMIM:114100] synonym: "bilateral striopallidodentate calcinosis childhood-onset" RELATED [GARD:0009598] synonym: "cerebral calcification nonarteriosclerotic idiopathic childhood-onset" RELATED [GARD:0009598] -synonym: "cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset" RELATED [OMIM:114100] +synonym: "cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset" RELATED [] synonym: "IBGC childhood onset" RELATED [GARD:0009598] -synonym: "IBGC, childhood-onset" RELATED [OMIM:114100] +synonym: "IBGC, childhood-onset" RELATED [] synonym: "idiopathic basal ganglia calcification childhood-onset" RELATED [GARD:0009598] -synonym: "striopallidodentate calcinosis, bilateral, childhood-onset" RELATED [OMIM:114100] +synonym: "striopallidodentate calcinosis, bilateral, childhood-onset" RELATED [] xref: GARD:9598 {source="MONDO:GARD"} xref: MEDGEN:396262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536276 {source="MONDO:equivalentTo"} @@ -145671,8 +145683,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:79141"} subset: orphanet_rare {source="Orphanet:79141"} subset: rare -synonym: "callosities, hereditary painful" RELATED [OMIM:114140] -synonym: "callosities, painful plantar" RELATED [OMIM:114140] +synonym: "callosities, hereditary painful" RELATED [] +synonym: "callosities, painful plantar" RELATED [] synonym: "keratosis palmoplantaris nummularis" EXACT [Orphanet:79141] synonym: "Plamoplantar hyperkeratosis nummularis" EXACT [Orphanet:79141] synonym: "Plamoplantar keratoderma nummularis" EXACT [Orphanet:79141] @@ -145701,7 +145713,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1319"} subset: orphanet_rare {source="Orphanet:1319"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "camptobrachydactyly" EXACT [OMIM:114150] +synonym: "camptobrachydactyly" EXACT [OMIM:114150, Orphanet:1319] synonym: "short foot/brachydactyly of toes, camptodactyly, brachydactyly" RELATED [GARD:0001062] xref: GARD:1062 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:1319/attributed", source="Orphanet:1319/ntbt", source="Orphanet:1319"} @@ -145725,13 +145737,13 @@ subset: ordo_morphological_anomaly {source="Orphanet:295016"} subset: orphanet_rare {source="Orphanet:295016"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CAMPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114200] -synonym: "camptodactyly 1" RELATED [MONDO:Lexical, OMIM:114200] -synonym: "camptodactyly and knuckle pads" RELATED [OMIM:114200] +synonym: "CAMPD1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "camptodactyly 1" RELATED [MONDO:Lexical] +synonym: "camptodactyly and knuckle pads" RELATED [] synonym: "crooked little finger, familial" RELATED [GARD:0009448, MESH:C536852] synonym: "familial streblodactyly" RELATED [GARD:0009448] synonym: "minor streblomicrodactyly, familial" RELATED [GARD:0009448, MESH:C536852] -synonym: "streblodactyly" RELATED [OMIM:114200] +synonym: "streblodactyly" RELATED [] xref: GARD:9448 {source="MONDO:GARD"} xref: ICD10CM:Q68.1 {source="Orphanet:295016", source="Orphanet:295016/attributed", source="Orphanet:295016/ntbt"} xref: icd11.foundation:1449348512 {source="MONDO:equivalentTo"} @@ -145760,18 +145772,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:140"} subset: orphanet_rare {source="Orphanet:140"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acampomelic campomelic dysplasia" NARROW [DOID:0050463, OMIM:114290] -synonym: "acampomelic campomelic dysplasia with autosomal Sex reversal" RELATED [OMIM:114290] -synonym: "campomelic dwarfism" EXACT [Orphanet:140] -synonym: "campomelic dysplasia" EXACT CLINGEN_LABEL [OMIM:114290] -synonym: "campomelic dysplasia with autosomal Sex reversal" RELATED [OMIM:114290] +synonym: "acampomelic campomelic dysplasia" NARROW [] +synonym: "acampomelic campomelic dysplasia with autosomal Sex reversal" RELATED [] +synonym: "campomelic dwarfism" EXACT [icd11.foundation:913761638, Orphanet:140] +synonym: "campomelic dysplasia" EXACT CLINGEN_LABEL [DOID:0050463, icd11.foundation:913761638, NCIT:C84609, OMIM:114290, Orphanet:140] +synonym: "campomelic dysplasia with autosomal Sex reversal" RELATED [] synonym: "Campomelic Syndrome" EXACT [NORD:884] -synonym: "camptomelic dysplasia" RELATED [OMIM:114290] +synonym: "camptomelic dysplasia" RELATED [] synonym: "CMD" EXACT ABBREVIATION [NCIT:C84609] -synonym: "Cmd1" RELATED [OMIM:114290] -synonym: "Cmpd" RELATED [OMIM:114290] +synonym: "Cmd1" RELATED [] +synonym: "Cmpd" RELATED [] synonym: "CMPD1" RELATED ABBREVIATION [GARD:0010027] -synonym: "Cmpd1/Sra1" RELATED [OMIM:114290] +synonym: "Cmpd1/Sra1" RELATED [] xref: DOID:0050463 {source="MONDO:equivalentTo"} xref: GARD:10027 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:140", source="Orphanet:140/attributed", source="Orphanet:140/ntbt"} @@ -145808,14 +145820,14 @@ subset: orphanet_rare {source="Orphanet:376"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arthrogryposis distal type 3" RELATED [GARD:0002553] -synonym: "arthrogryposis multiplex congenita, distal, type 2A" RELATED [OMIM:114300] -synonym: "arthrogryposis, distal, type 3" RELATED [MONDO:Lexical, OMIM:114300] -synonym: "camptodactyly, cleft palate, and clubfoot" RELATED [OMIM:114300] -synonym: "camptodactyly-cleft palate-clubfoot syndrome" EXACT [Orphanet:376] -synonym: "DA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:114300] -synonym: "distal arthrogryposis type 3" EXACT [Orphanet:376] +synonym: "arthrogryposis multiplex congenita, distal, type 2A" RELATED [] +synonym: "arthrogryposis, distal, type 3" RELATED [MONDO:Lexical] +synonym: "camptodactyly, cleft palate, and clubfoot" RELATED [] +synonym: "camptodactyly-cleft palate-clubfoot syndrome" EXACT [DOID:0111607, Orphanet:376] +synonym: "DA3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "distal arthrogryposis type 3" EXACT [DOID:0111607, Orphanet:376] synonym: "distal arthrogryposis type IIA" EXACT [Orphanet:376] -synonym: "Gordon syndrome" EXACT [OMIM:114300] +synonym: "Gordon syndrome" EXACT [DOID:0111607, OMIM:114300, Orphanet:376] xref: DOID:0111607 {source="MONDO:equivalentTo"} xref: GARD:2553 {source="MONDO:GARD"} xref: ICD10CM:Q68.8 {source="Orphanet:376/attributed", source="Orphanet:376/ntbt", source="Orphanet:376"} @@ -145835,7 +145847,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2553/gordon- [Term] id: MONDO:0007253 name: cancer, familial, with in vitro Radioresistance -synonym: "cancer, familial, with in vitro RADIORESISTANCE" RELATED [OMIM:114450] +synonym: "cancer, familial, with in vitro RADIORESISTANCE" RELATED [] xref: MEDGEN:396248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566179 {source="MONDO:equivalentTo"} xref: OMIM:114450 {source="MONDO:equivalentTo"} @@ -145847,14 +145859,14 @@ id: MONDO:0007254 name: breast cancer def: "A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males." [NCIT:C9335] subset: otar {source="MONDO:OTAR"} -synonym: "breast cancer" EXACT [MONDO:patterns/location] -synonym: "breast tumor" BROAD [DOID:1612, NCIT:C2910] +synonym: "breast cancer" EXACT [DOID:1612, MONDO:patterns/location] +synonym: "breast tumor" BROAD [] synonym: "breast tumour" BROAD OMO:0003005 [] synonym: "cancer of breast" EXACT [MONDO:patterns/cancer] synonym: "malignant breast neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9335] synonym: "malignant breast tumor" EXACT [NCIT:C9335] synonym: "malignant breast tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of breast" EXACT [DOID:1612, MONDO:patterns/cancer, NCIT:C9335] +synonym: "malignant neoplasm of breast" EXACT [DOID:1612, ICD10CM:C50, MONDO:patterns/cancer, NCIT:C9335] synonym: "malignant neoplasm of the breast" EXACT [NCIT:C9335] synonym: "malignant tumor of breast" EXACT [NCIT:C9335] synonym: "malignant tumor of the breast" EXACT [DOID:1612, NCIT:C9335] @@ -145862,9 +145874,9 @@ synonym: "malignant tumour of breast" EXACT OMO:0003005 [] synonym: "malignant tumour of the breast" EXACT OMO:0003005 [] synonym: "mammary cancer" EXACT [DOID:1612] synonym: "mammary neoplasm" RELATED [DOID:1612] -synonym: "mammary tumor" BROAD [DOID:1612] +synonym: "mammary tumor" BROAD [] synonym: "mammary tumour" BROAD OMO:0003005 [] -synonym: "primary breast cancer" NARROW [DOID:1612] +synonym: "primary breast cancer" NARROW [] xref: DOID:1612 {source="MONDO:equivalentTo"} xref: ICD10CM:C50 {source="MONDO:equivalentTo", source="DOID:1612"} xref: ICD10CM:C50-C50 {source="DOID:1612"} @@ -145898,29 +145910,29 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1907"} subset: ordo_group_of_disorders {source="Orphanet:88673"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult hepatoma" NARROW [DOID:684, NCIT:C7956] -synonym: "adult primary hepatocellular carcinoma" NARROW [DOID:684] +synonym: "adult hepatoma" NARROW [] +synonym: "adult primary hepatocellular carcinoma" NARROW [] synonym: "cancer, hepatocellular" EXACT [OMIM:114550] synonym: "carcinoma of liver" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of liver cells" EXACT [NCIT:C3099] synonym: "carcinoma of the liver cells" EXACT [NCIT:C3099] synonym: "carcinoma, hepatocellular, malignant" EXACT [NCIT:C3099] -synonym: "HCC" EXACT ABBREVIATION [DOID:684, NCIT:C3099, OMIM:114550, Orphanet:88673] -synonym: "hepatoblastoma" RELATED [OMIM:114550] -synonym: "hepatoblastoma caused by somatic mutation" RELATED [OMIM:114550] -synonym: "hepatoblastoma, somatic" EXACT [OMIM:114550, OMIM:genemap2] +synonym: "HCC" EXACT ABBREVIATION [NCIT:C3099, OMIM:114550, Orphanet:88673] +synonym: "hepatoblastoma" RELATED [] +synonym: "hepatoblastoma caused by somatic mutation" RELATED [] +synonym: "hepatoblastoma, somatic" EXACT [] synonym: "hepatocellular adenocarcinoma" EXACT [MONDO:design_patterns] -synonym: "hepatocellular cancer" EXACT [NCIT:C3099] -synonym: "hepatocellular cancer, somatic" EXACT [OMIM:114550, OMIM:genemap2] -synonym: "hepatocellular carcinoma" EXACT [NCIT:C3099, OMIM:114550] -synonym: "hepatocellular carcinoma, childhood type, somatic" EXACT [OMIM:114550, OMIM:genemap2] -synonym: "hepatocellular carcinoma, somatic" EXACT [OMIM:114550, OMIM:genemap2] +synonym: "hepatocellular cancer" EXACT [icd11.foundation:1294035808, NCIT:C3099] +synonym: "hepatocellular cancer, somatic" EXACT [] +synonym: "hepatocellular carcinoma" EXACT [DOID:684, icd11.foundation:1294035808, NCIT:C3099, OMIM:114550, Orphanet:88673] +synonym: "hepatocellular carcinoma, childhood type, somatic" EXACT [] +synonym: "hepatocellular carcinoma, somatic" EXACT [] synonym: "hepatoma" EXACT [DOID:684, https://orcid.org/0000-0002-6601-2165, NCIT:C3099, OMIM:114550] -synonym: "liver and intrahepatic bile duct carcinoma" RELATED [DOID:686, NCIT:C7927] -synonym: "liver cancer" RELATED [OMIM:114550] -synonym: "liver carcinoma" EXACT [MONDO:0004018, MONDO:patterns/location] +synonym: "liver and intrahepatic bile duct carcinoma" RELATED [] +synonym: "liver cancer" RELATED [] +synonym: "liver carcinoma" EXACT [DOID:686, MONDO:0004018, MONDO:patterns/location] synonym: "liver cell cancer (hepatocellular carcinoma)" EXACT [NCIT:C3099] -synonym: "liver cell carcinoma" EXACT [NCIT:C3099, OMIM:114550] +synonym: "liver cell carcinoma" EXACT [icd11.foundation:1294035808, NCIT:C3099, OMIM:114550] synonym: "primary carcinoma of liver cells" EXACT [NCIT:C3099] synonym: "primary carcinoma of the liver cells" EXACT [NCIT:C3099] xref: DOID:684 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0000182"} @@ -145963,10 +145975,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CANDF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:114580] -synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease" RELATED [OMIM:114580] +synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease" RELATED [] synonym: "candidiasis, familial, 1" EXACT [MONDO:Lexical, OMIM:114580] -synonym: "candidiasis, familial, 1, autosomal dominant" EXACT [OMIM:114580, OMIM:genemap2] -synonym: "Cmct" RELATED [OMIM:114580] +synonym: "candidiasis, familial, 1, autosomal dominant" EXACT [] +synonym: "Cmct" RELATED [] xref: MEDGEN:414015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567779 {source="MONDO:equivalentTo"} xref: OMIM:114580 {source="MONDO:equivalentTo"} @@ -145995,7 +146007,7 @@ subset: orphanet_rare {source="Orphanet:363705"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cantu craniofaciofrontodigital syndrome" EXACT [OMIM:114620, Orphanet:363705] -synonym: "craniofaciofrontodigital syndrome" EXACT [OMIM:114620] +synonym: "craniofaciofrontodigital syndrome" EXACT [OMIM:114620, Orphanet:363705] xref: GARD:17571 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:363705/attributed", source="Orphanet:363705/ntbt", source="Orphanet:363705"} xref: MEDGEN:393947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -146053,7 +146065,7 @@ relationship: disease_disrupts GO:0003015 ! heart process id: MONDO:0007264 name: obsolete sudden cardiac death def: "OBSOLETE. An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms." [NCIT:C50911] -synonym: "sudden cardiac death" EXACT [OMIM:115080] +synonym: "sudden cardiac death" EXACT [] xref: MESH:D016757 {source="EFO:0004278"} xref: NCIT:C50911 {source="EFO:0004278", source="MONDO:otherHierarchy"} xref: OMIM:115080 {source="EFO:0004278", source="MONDO:includedEntryInOMIM"} @@ -146072,13 +146084,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BRAF cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cardiofaciocutaneous syndrome" BROAD [OMIM:115150, OMIM:genemap2] -synonym: "cardiofaciocutaneous syndrome 1" EXACT [MONDO:Lexical, OMIM:115150] +synonym: "cardiofaciocutaneous syndrome" BROAD [] +synonym: "cardiofaciocutaneous syndrome 1" EXACT [DOID:0111460, MONDO:Lexical, OMIM:115150] synonym: "cardiofaciocutaneous syndrome caused by mutation in BRAF" EXACT [MONDO:design_pattern] -synonym: "cardiofaciocutaneous syndrome type 1" EXACT [MONDORULE:1, OMIM:115150] -synonym: "CFC syndrome" RELATED [OMIM:115150] -synonym: "CFC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:115150] -synonym: "Cfcs" RELATED [OMIM:115150] +synonym: "cardiofaciocutaneous syndrome type 1" EXACT [MONDORULE:1] +synonym: "CFC syndrome" RELATED [] +synonym: "CFC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Cfcs" RELATED [] xref: DOID:0111460 {source="MONDO:equivalentTo"} xref: OMIM:115150 {source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="OMIM:115150"} @@ -146097,14 +146109,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathy familial hypertrophic 2" EXACT [DOID:0110308] -synonym: "cardiomyopathy, familial hypertrophic, 2" RELATED [MONDO:Lexical, OMIM:115195] -synonym: "cardiomyopathy, familial hypertrophic, type 2" EXACT [MONDORULE:1, OMIM:115195] -synonym: "cardiomyopathy, hypertrophic, 2" EXACT [OMIM:115195, OMIM:genemap2] -synonym: "CMH2" EXACT ABBREVIATION [DOID:0110308, MONDO:Lexical, OMIM:115195] +synonym: "cardiomyopathy, familial hypertrophic, 2" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 2" EXACT [MONDORULE:1] +synonym: "cardiomyopathy, hypertrophic, 2" EXACT [] +synonym: "CMH2" EXACT ABBREVIATION [DOID:0110308, MONDO:Lexical, NCIT:C142892, OMIM:115195] synonym: "familial hypertrophic cardiomyopathy type 2" EXACT [NCIT:C142892] -synonym: "hypertrophic cardiomyopathy 2" EXACT CLINGEN_LABEL [] +synonym: "hypertrophic cardiomyopathy 2" EXACT CLINGEN_LABEL [DOID:0110308] synonym: "hypertrophic cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 2" EXACT [DOID:0110308, MONDORULE:1] +synonym: "hypertrophic cardiomyopathy type 2" EXACT [MONDORULE:1] synonym: "TNNT2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110308 {source="MONDO:equivalentTo"} xref: MEDGEN:349383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -146128,13 +146140,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy familial hypertrophic 3" EXACT [DOID:0110309] -synonym: "cardiomyopathy, familial hypertrophic, 3" RELATED [MONDO:Lexical, OMIM:115196] -synonym: "cardiomyopathy, familial hypertrophic, type 3" EXACT [MONDORULE:1, OMIM:115196] -synonym: "cardiomyopathy, hypertrophic, 3" EXACT [OMIM:115196, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 3" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 3" EXACT [MONDORULE:1] +synonym: "cardiomyopathy, hypertrophic, 3" EXACT [] synonym: "CMH3" EXACT ABBREVIATION [DOID:0110309, MONDO:Lexical, OMIM:115196] -synonym: "hypertrophic cardiomyopathy 3" EXACT CLINGEN_LABEL [] +synonym: "hypertrophic cardiomyopathy 3" EXACT CLINGEN_LABEL [DOID:0110309] synonym: "hypertrophic cardiomyopathy caused by mutation in TPM1" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 3" EXACT [DOID:0110309, MONDORULE:1] +synonym: "hypertrophic cardiomyopathy type 3" EXACT [MONDORULE:1] synonym: "TPM1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110309 {source="MONDO:equivalentTo"} xref: MEDGEN:349382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -146158,14 +146170,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathy, familial hypertrophic, 4" EXACT [DOID:0110310, MONDO:Lexical, OMIM:115197] -synonym: "cardiomyopathy, familial hypertrophic, 4, susceptibility to" RELATED [OMIM:115197] -synonym: "cardiomyopathy, familial hypertrophic, type 4" EXACT [MONDORULE:1, OMIM:115197] -synonym: "cardiomyopathy, hypertrophic, 4" EXACT [OMIM:115197, OMIM:genemap2] -synonym: "CMH4" EXACT ABBREVIATION [DOID:0110310, MONDO:Lexical, OMIM:115197] +synonym: "cardiomyopathy, familial hypertrophic, 4, susceptibility to" RELATED [] +synonym: "cardiomyopathy, familial hypertrophic, type 4" EXACT [MONDORULE:1] +synonym: "cardiomyopathy, hypertrophic, 4" EXACT [] +synonym: "CMH4" EXACT ABBREVIATION [DOID:0110310, MONDO:Lexical, NCIT:C133725, OMIM:115197] synonym: "familial hypertrophic cardiomyopathy type 4" EXACT [NCIT:C133725] -synonym: "hypertrophic cardiomyopathy 4" EXACT CLINGEN_LABEL [] +synonym: "hypertrophic cardiomyopathy 4" EXACT CLINGEN_LABEL [DOID:0110310] synonym: "hypertrophic cardiomyopathy caused by mutation in MYBPC3" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 4" EXACT [DOID:0110310, MONDORULE:1] +synonym: "hypertrophic cardiomyopathy type 4" EXACT [MONDORULE:1] synonym: "MYBPC3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110310 {source="MONDO:equivalentTo"} xref: MEDGEN:350526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -146192,18 +146204,18 @@ subset: orphanet_rare {source="Orphanet:300751"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathy dilated with conduction defect type 1" EXACT [MONDO:0022651] -synonym: "cardiomyopathy, congestive" RELATED [OMIM:115200] -synonym: "cardiomyopathy, dilated, 1A" RELATED [MONDO:Lexical, OMIM:115200] -synonym: "cardiomyopathy, dilated, type 1A" EXACT [MONDORULE:4, OMIM:115200] -synonym: "cardiomyopathy, dilated, with conduction defect 1" RELATED [OMIM:115200] -synonym: "cardiomyopathy, familial idiopathic" RELATED [OMIM:115200] -synonym: "cardiomyopathy, idiopathic dilated" RELATED [OMIM:115200] +synonym: "cardiomyopathy, congestive" RELATED [] +synonym: "cardiomyopathy, dilated, 1A" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1A" EXACT [MONDORULE:4] +synonym: "cardiomyopathy, dilated, with conduction defect 1" RELATED [] +synonym: "cardiomyopathy, familial idiopathic" RELATED [] +synonym: "cardiomyopathy, idiopathic dilated" RELATED [] synonym: "CDCD1" EXACT ABBREVIATION [DOID:0110425] -synonym: "CMD1A" RELATED EXCLUDE [DOID:0110425, MONDO:Lexical, OMIM:115200] -synonym: "dilated cardiomyopathy 1A" EXACT CLINGEN_LABEL [] -synonym: "dilated cardiomyopathy type 1A" EXACT [DOID:0110425, MONDORULE:4] +synonym: "CMD1A" RELATED EXCLUDE [MONDO:Lexical] +synonym: "dilated cardiomyopathy 1A" EXACT CLINGEN_LABEL [DOID:0110425] +synonym: "dilated cardiomyopathy type 1A" EXACT [MONDORULE:4] synonym: "dilated cardiomyopathy with conduction defect 1" EXACT [DOID:0110425] -synonym: "familial dilated cardiomyopathy with conduction defect due to LMNA mutation" EXACT [DOID:0110425] +synonym: "familial dilated cardiomyopathy with conduction defect due to LMNA mutation" EXACT [DOID:0110425, Orphanet:300751] synonym: "familial isolated dilated cardiomyopathy caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "LMNA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110425 {source="MONDO:equivalentTo"} @@ -146228,10 +146240,10 @@ subset: gard_rare {source="GARD:18070", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy, familial restrictive, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:115210] -synonym: "cardiomyopathy, familial restrictive, type 1" EXACT [MONDORULE:1, OMIM:115210] +synonym: "cardiomyopathy, familial restrictive, type 1" EXACT [MONDORULE:1] synonym: "familial isolated restrictive cardiomyopathy caused by mutation in TNNI3" EXACT [MONDO:design_pattern] -synonym: "Rcm" RELATED [OMIM:115210] -synonym: "RCM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:115210] +synonym: "Rcm" RELATED [] +synonym: "RCM1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TNNI3 familial isolated restrictive cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111425 {source="MONDO:equivalentTo"} xref: GARD:18070 {source="MONDO:GARD"} @@ -146253,7 +146265,7 @@ subset: ordo_disorder {source="Orphanet:53296"} subset: orphanet_rare {source="Orphanet:53296"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "collagenoma, familial cutaneous" RELATED [OMIM:115250] +synonym: "collagenoma, familial cutaneous" RELATED [] xref: GARD:9799 {source="MONDO:GARD"} xref: ICD10CM:L94.8 {source="Orphanet:53296/attributed", source="Orphanet:53296/ntbt", source="Orphanet:53296"} xref: icd11.foundation:982220551 {source="MONDO:equivalentTo"} @@ -146278,9 +146290,9 @@ subset: ordo_disorder {source="Orphanet:199285"} subset: orphanet_rare {source="Orphanet:199285"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Carotenoids, plasma level of, quantitative trait locus 1" RELATED [OMIM:115300] -synonym: "HCVAD" RELATED ABBREVIATION [OMIM:115300] -synonym: "hypercarotenemia and vitamin A deficiency, autosomal dominant" RELATED [OMIM:115300] +synonym: "Carotenoids, plasma level of, quantitative trait locus 1" RELATED [] +synonym: "HCVAD" RELATED ABBREVIATION [] +synonym: "hypercarotenemia and vitamin A deficiency, autosomal dominant" RELATED [] xref: GARD:17090 {source="MONDO:GARD"} xref: ICD10CM:E50.8 {source="Orphanet:199285", source="Orphanet:199285/attributed", source="Orphanet:199285/ntbt"} xref: MEDGEN:393944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -146303,17 +146315,17 @@ def: "Any paraganglioma in which the cause of the disease is a mutation in the S subset: gard_rare {source="GARD:10546", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "carotid body tumors and multiple extraadrenal Pheochromocytomas" RELATED [OMIM:115310] +synonym: "carotid body tumors and multiple extraadrenal Pheochromocytomas" RELATED [] synonym: "carotid body tumours and multiple extraadrenal Pheochromocytomas" RELATED OMO:0003005 [] synonym: "paraganglioma caused by mutation in SDHB" EXACT [MONDO:design_pattern] -synonym: "paraganglioma, familial malignant" RELATED [OMIM:115310] +synonym: "paraganglioma, familial malignant" RELATED [] synonym: "paragangliomas 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:115310] -synonym: "paragangliomas type 4" EXACT [MONDORULE:1, OMIM:115310] -synonym: "paragangliomas, hereditary extraadrenal" RELATED [OMIM:115310] -synonym: "PGL4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:115310] +synonym: "paragangliomas type 4" EXACT [MONDORULE:1] +synonym: "paragangliomas, hereditary extraadrenal" RELATED [] +synonym: "PGL4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pheochromocytoma, extraadrenal and cervical paraganglioma" RELATED [GARD:0010546] -synonym: "pheochromocytoma, extraadrenal, and cervical paraganglioma" RELATED [OMIM:115310] -synonym: "pheochromocytoma, familial extraadrenal" RELATED [OMIM:115310] +synonym: "pheochromocytoma, extraadrenal, and cervical paraganglioma" RELATED [] +synonym: "pheochromocytoma, familial extraadrenal" RELATED [] synonym: "SDHB paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SDHB-related hereditary paraganglioma-pheochromocytoma syndrome" RELATED [GARD:0010546] xref: GARD:10546 {source="MONDO:GARD"} @@ -146332,7 +146344,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10546/paraga [Term] id: MONDO:0007274 name: carpal displacement -synonym: "carpal bossing" RELATED [OMIM:115400] +synonym: "carpal bossing" RELATED [] synonym: "carpal displacement" EXACT [OMIM:115400] xref: MEDGEN:348468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:115400 {source="MONDO:equivalentTo"} @@ -146346,10 +146358,10 @@ def: "Entrapment of the median nerve in the wrist that is characterized by numbn subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amyotrophy, thenar, of carpal origin" RELATED [OMIM:115430] +synonym: "amyotrophy, thenar, of carpal origin" RELATED [] synonym: "carpal tunnel median neuropathy" EXACT [DOID:12169] -synonym: "carpal tunnel syndrome" EXACT [DOID:12169, ICD9CM:354.0, MONDO:Lexical, OMIM:115430] -synonym: "CTS" RELATED ABBREVIATION [OMIM:115430] +synonym: "carpal tunnel syndrome" EXACT [DOID:12169, ICD10CM:G56.0, icd11.foundation:1275186848, ICD9CM:354.0, MONDO:Lexical, NCIT:C34450, OMIMPS:115430] +synonym: "CTS" RELATED ABBREVIATION [] synonym: "CTS - carpal tunnel syndrome" EXACT [DOID:12169] synonym: "median nerve entrapment" EXACT [DOID:12169] xref: DOID:12169 {source="MONDO:equivalentTo", source="EFO:0004143"} @@ -146385,12 +146397,12 @@ subset: orphanet_rare {source="Orphanet:195"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CAT eye syndrome" EXACT [MONDO:Lexical, OMIM:115470] -synonym: "Cat Eye Syndrome" EXACT [NORD:899] +synonym: "Cat Eye Syndrome" EXACT [NORD:899, OMIM:115470] synonym: "cat-eye syndrome (Type I)" EXACT [DECIPHER:42] synonym: "CES" EXACT ABBREVIATION [MONDO:Lexical, OMIM:115470, Orphanet:195] -synonym: "chromosome 22 partial tetrasomy" RELATED [OMIM:115470] -synonym: "Inv dup(22)(q11)" RELATED [OMIM:115470] -synonym: "Schmid-Fraccaro syndrome" RELATED [OMIM:115470] +synonym: "chromosome 22 partial tetrasomy" RELATED [] +synonym: "Inv dup(22)(q11)" RELATED [] +synonym: "Schmid-Fraccaro syndrome" RELATED [] xref: DECIPHER:42 {source="MONDO:equivalentTo"} xref: GARD:26 {source="MONDO:GARD"} xref: ICD10CM:Q92.8 {source="Orphanet:195", source="Orphanet:195/attributed", source="Orphanet:195/ntbt"} @@ -146419,7 +146431,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1373"} subset: orphanet_rare {source="Orphanet:1373"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cataract, aberrant oral frenula, and growth retardation" RELATED [OMIM:115645] +synonym: "cataract, aberrant oral frenula, and growth retardation" RELATED [] synonym: "cataracts, aberrant oral frenula, and growth retardation" RELATED [GARD:0005554] synonym: "Wellesley Carmen French syndrome" RELATED [GARD:0005554] synonym: "Wellesley-Carman-French syndrome" EXACT [Orphanet:1373] @@ -146443,10 +146455,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "anterior polar cataract 1" NARROW [DOID:0110227] -synonym: "cataract 32, multiple types" RELATED [MONDO:Lexical, OMIM:115650] -synonym: "cataract, anterior polar" RELATED [OMIM:115650] -synonym: "cataract, anterior polar, 1" RELATED [OMIM:115650] -synonym: "cataract, posterior polar, 5" RELATED [OMIM:115650] +synonym: "cataract 32, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract, anterior polar" RELATED [] +synonym: "cataract, anterior polar, 1" RELATED [] +synonym: "cataract, posterior polar, 5" RELATED [] synonym: "CTAA1" NARROW ABBREVIATION [DOID:0110227] synonym: "CTPP5" NARROW ABBREVIATION [DOID:0110227] synonym: "CTRCT32" EXACT ABBREVIATION [DOID:0110227, MONDO:Lexical, OMIM:115650] @@ -146469,10 +146481,10 @@ def: "A cataract that has material basis in variation in the region 17q24." [DOI subset: gard_rare {source="GARD:15046", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 7" EXACT [MONDO:Lexical, OMIM:115660] -synonym: "cataract 7, cerulean type" RELATED [OMIM:115660] -synonym: "cataract type 7" EXACT [DOID:0110260, MONDORULE:1] -synonym: "cataract, congenital, cerulean type, 1" RELATED [OMIM:115660] +synonym: "cataract 7" EXACT [DOID:0110260, MONDO:Lexical, OMIM:115660] +synonym: "cataract 7, cerulean type" RELATED [] +synonym: "cataract type 7" EXACT [MONDORULE:1] +synonym: "cataract, congenital, cerulean type, 1" RELATED [] synonym: "CCA1" NARROW ABBREVIATION [DOID:0110260] synonym: "cerulean type cataract 7" NARROW [DOID:0110260] synonym: "congenital cerulean type cataract 1" NARROW [DOID:0110260] @@ -146494,10 +146506,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cataract 8, multiple types" RELATED [MONDO:Lexical, OMIM:115665] +synonym: "cataract 8, multiple types" RELATED [MONDO:Lexical] synonym: "cataract congenital Volkmann type" RELATED [GARD:0001146] synonym: "cataract, congenital, Volkmann type" EXACT [DOID:0110228, OMIM:115665] -synonym: "CCV" RELATED EXCLUDE [DOID:0110228] +synonym: "CCV" RELATED EXCLUDE [] synonym: "CTRCT8" EXACT ABBREVIATION [DOID:0110228, MONDO:Lexical, OMIM:115665] xref: DOID:0110228 {source="MONDO:equivalentTo"} xref: ICD10CM:Q12.0 {source="DOID:0110228"} @@ -146518,12 +146530,12 @@ subset: gard_rare {source="GARD:1144", source="MONDO:GARD"} subset: rare synonym: "cataract (disease) caused by mutation in CRYGD" EXACT [] synonym: "cataract 4 multiple types with or without microcornea" EXACT [DOID:0110234] -synonym: "cataract 4, multiple types" RELATED [MONDO:Lexical, OMIM:115700] -synonym: "cataract 4, multiple types, with or without microcornea" RELATED [OMIM:115700] -synonym: "cataract, congenital, cerulean type, 3" RELATED [OMIM:115700] -synonym: "cataract, crystalline aculeiform" RELATED [OMIM:115700] -synonym: "cataract, Nonnuclear polymorphic congenital" RELATED [OMIM:115700] -synonym: "cataract, punctate, progressive juvenile-onset" RELATED [OMIM:115700] +synonym: "cataract 4, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract 4, multiple types, with or without microcornea" RELATED [] +synonym: "cataract, congenital, cerulean type, 3" RELATED [] +synonym: "cataract, crystalline aculeiform" RELATED [] +synonym: "cataract, Nonnuclear polymorphic congenital" RELATED [] +synonym: "cataract, punctate, progressive juvenile-onset" RELATED [] synonym: "CCA3" NARROW ABBREVIATION [DOID:0110234] synonym: "congenital cataract cerulean type 3" NARROW [DOID:0110234] synonym: "CRYGD cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] @@ -146555,11 +146567,11 @@ def: "A cataract that has material basis in variation in the region 2pter-p24." subset: gard_rare {source="GARD:18233", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 29" EXACT [MONDO:Lexical, OMIM:115800] +synonym: "cataract 29" EXACT [DOID:0110232, MONDO:Lexical, OMIM:115800] synonym: "cataract 29 coralliform" EXACT [DOID:0110232] -synonym: "cataract 29, coralliform" RELATED [OMIM:115800] -synonym: "cataract type 29" EXACT [DOID:0110232, MONDORULE:2] -synonym: "CTRCT29" RELATED ABBREVIATION [MONDO:Lexical, OMIM:115800] +synonym: "cataract 29, coralliform" RELATED [] +synonym: "cataract type 29" EXACT [MONDORULE:2] +synonym: "CTRCT29" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0110232 {source="MONDO:equivalentTo"} xref: GARD:18233 {source="MONDO:GARD"} xref: ICD10CM:Q12.0 {source="DOID:0110232"} @@ -146578,9 +146590,9 @@ comment: Not in the OMIM series. {source="OMIM:115900"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35." EXACT [DOID:0110237, PMID:23508780] -synonym: "cataract 42" EXACT [MONDO:Lexical, OMIM:115900] -synonym: "cataract type 42" EXACT [DOID:0110237, MONDORULE:2, OMIM:115900] +synonym: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35." EXACT [PMID:23508780] +synonym: "cataract 42" EXACT [DOID:0110237, MONDO:Lexical, OMIM:115900] +synonym: "cataract type 42" EXACT [MONDORULE:2] synonym: "CRYBA2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CTRCT42" EXACT ABBREVIATION [DOID:0110237, MONDO:Lexical, OMIM:115900] synonym: "early-onset non-syndromic cataract caused by mutation in CRYBA2" EXACT [MONDO:design_pattern] @@ -146604,7 +146616,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cataract (disease) caused by mutation in CRYGS" EXACT [] -synonym: "cataract 20, multiple types" RELATED [MONDO:Lexical, OMIM:116100] +synonym: "cataract 20, multiple types" RELATED [MONDO:Lexical] synonym: "CRYGS cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CTRCT20" EXACT ABBREVIATION [DOID:0110240, MONDO:Lexical, OMIM:116100] xref: DOID:0110240 {source="MONDO:equivalentTo"} @@ -146628,10 +146640,10 @@ subset: gard_rare {source="GARD:15047", source="MONDO:GARD"} subset: rare synonym: "CAE1" NARROW ABBREVIATION [DOID:0110231] synonym: "cataract (disease) caused by mutation in GJA8" EXACT [] -synonym: "cataract 1, multiple types" RELATED [MONDO:Lexical, OMIM:116200] +synonym: "cataract 1, multiple types" RELATED [MONDO:Lexical] synonym: "cataract 1, multiple types, with or without microcornea" EXACT [DOID:0110231, OMIM:116200] -synonym: "cataract, Duffy-linked" RELATED [OMIM:116200] -synonym: "cataract, zonular pulverulent, 1" RELATED [OMIM:116200] +synonym: "cataract, Duffy-linked" RELATED [] +synonym: "cataract, zonular pulverulent, 1" RELATED [] synonym: "CTRCT1" EXACT ABBREVIATION [DOID:0110231, MONDO:Lexical, OMIM:116200] synonym: "CZP1" NARROW ABBREVIATION [DOID:0110231] synonym: "Duffy linked cataract" EXACT [DOID:0110231] @@ -146661,14 +146673,14 @@ def: "A cataract that has material basis in heterozygous mutation in the VIM gen subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 30" EXACT [MONDO:Lexical, OMIM:116300] +synonym: "cataract 30" EXACT [DOID:0110248, MONDO:Lexical] synonym: "cataract 30 pulverulent" EXACT [DOID:0110248] -synonym: "cataract 30, multiple types" RELATED [OMIM:116300] -synonym: "cataract 30, pulverulent" RELATED [OMIM:116300] +synonym: "cataract 30, multiple types" RELATED [] +synonym: "cataract 30, pulverulent" RELATED [] synonym: "cataract Coppock-like" EXACT [DOID:0110248] -synonym: "cataract type 30" EXACT [DOID:0110248, MONDORULE:2, OMIM:116300] +synonym: "cataract type 30" EXACT [MONDORULE:2] synonym: "CTRCT30" EXACT ABBREVIATION [DOID:0110248, MONDO:Lexical, OMIM:116300] -synonym: "dusty cataract" RELATED EXCLUDE [DOID:0110248] +synonym: "dusty cataract" RELATED EXCLUDE [] xref: DOID:0110248 {source="MONDO:equivalentTo"} xref: ICD10CM:Q12.0 {source="DOID:0110248"} xref: MEDGEN:811741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -146692,9 +146704,9 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i subset: gard_rare {source="GARD:18234", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 41" EXACT [MONDO:Lexical, OMIM:116400] -synonym: "cataract 41, congenital nuclear type" RELATED [OMIM:116400] -synonym: "cataract type 41" EXACT [DOID:0110241, MONDORULE:2, OMIM:116400] +synonym: "cataract 41" EXACT [DOID:0110241, MONDO:Lexical, OMIM:116400] +synonym: "cataract 41, congenital nuclear type" RELATED [] +synonym: "cataract type 41" EXACT [MONDORULE:2] synonym: "congenital nuclear type cataract 41" EXACT [DOID:0110241] synonym: "CTRCT41" EXACT ABBREVIATION [DOID:0110241, MONDO:Lexical, OMIM:116400] synonym: "early-onset non-syndromic cataract caused by mutation in WFS1" EXACT [MONDO:design_pattern] @@ -146726,9 +146738,9 @@ subset: rare synonym: "age related cortical cataract 2" NARROW [DOID:0110229] synonym: "ARCC2" NARROW ABBREVIATION [DOID:0110229] synonym: "cataract (disease) caused by mutation in EPHA2" EXACT [] -synonym: "cataract 6, multiple types" RELATED [MONDO:Lexical, OMIM:116600] -synonym: "cataract, age-related cortical, 2" RELATED [OMIM:116600] -synonym: "cataract, posterior polar, 1" RELATED [OMIM:116600] +synonym: "cataract 6, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract, age-related cortical, 2" RELATED [] +synonym: "cataract, posterior polar, 1" RELATED [] synonym: "CTPA" RELATED ABBREVIATION [GARD:0010234] synonym: "CTPP" RELATED ABBREVIATION [GARD:0010234] synonym: "CTPP1" NARROW ABBREVIATION [DOID:0110229] @@ -146759,8 +146771,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cataract 13 with ADULT I phenotype" RELATED [OMIM:116700] -synonym: "cataract 13 with adult I phenotype" EXACT [MONDO:Lexical, OMIM:116700] +synonym: "cataract 13 with ADULT I phenotype" RELATED [] +synonym: "cataract 13 with adult I phenotype" EXACT [DOID:0110242, MONDO:Lexical, OMIM:116700] synonym: "CTRCT13" EXACT ABBREVIATION [DOID:0110242, MONDO:Lexical, OMIM:116700] xref: DOID:0110242 {source="MONDO:equivalentTo"} xref: ICD10CM:Q12.0 {source="DOID:0110242"} @@ -146781,9 +146793,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cataract (disease) caused by mutation in HSF4" EXACT [] -synonym: "cataract 5, multiple types" RELATED [MONDO:Lexical, OMIM:116800] -synonym: "cataract, lamellar" RELATED [OMIM:116800] -synonym: "cataract, Marner type" RELATED [OMIM:116800] +synonym: "cataract 5, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract, lamellar" RELATED [] +synonym: "cataract, Marner type" RELATED [] synonym: "CTRCT5" EXACT ABBREVIATION [DOID:0110255, MONDO:Lexical, OMIM:116800] synonym: "HSF4 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110255 {source="MONDO:equivalentTo"} @@ -146826,23 +146838,24 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:99842"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ITGB2 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "lad" RELATED [MONDO:Lexical, OMIM:116920] +synonym: "lad" RELATED [MONDO:Lexical] synonym: "lad 1" RELATED [GARD:0006893] -synonym: "lad-I" EXACT [Orphanet:99842] +synonym: "LAD-I" EXACT ABBREVIATION [Orphanet:99842] +synonym: "lad-I" EXACT [] synonym: "lad-type I" EXACT [NCIT:C4689] -synonym: "LAD1" EXACT ABBREVIATION [DOID:0110910] -synonym: "Lad1" RELATED [OMIM:116920] -synonym: "leukocyte adhesion deficiency" BROAD [OMIM:116920, OMIM:genemap2] -synonym: "leukocyte adhesion deficiency 1" EXACT CLINGEN_LABEL [] +synonym: "LAD1" EXACT ABBREVIATION [DOID:0110910, NCIT:C4689, OMIM:116920] +synonym: "Lad1" RELATED [] +synonym: "leukocyte adhesion deficiency" BROAD [] +synonym: "leukocyte adhesion deficiency 1" EXACT CLINGEN_LABEL [DOID:0110910] synonym: "leukocyte adhesion deficiency caused by mutation in ITGB2" EXACT [MONDO:design_pattern] -synonym: "leukocyte adhesion deficiency type 1" EXACT [DOID:0110910, MONDORULE:1] -synonym: "leukocyte adhesion deficiency type I" EXACT [DOID:0110910] -synonym: "leukocyte adhesion deficiency, type 1" RELATED [OMIM:116920] -synonym: "leukocyte adhesion deficiency, type I" RELATED [MONDO:Lexical, OMIM:116920] +synonym: "leukocyte adhesion deficiency type 1" EXACT [MONDORULE:1, NCIT:C4689] +synonym: "leukocyte adhesion deficiency type I" EXACT [DOID:0110910, Orphanet:99842] +synonym: "leukocyte adhesion deficiency, type 1" RELATED [] +synonym: "leukocyte adhesion deficiency, type I" RELATED [MONDO:Lexical] synonym: "LFA 1 immunodeficiency" RELATED [GARD:0006893] synonym: "LFA-I deficiency" EXACT [NCIT:C4689] -synonym: "LFA1 immunodeficiency" EXACT [DOID:0110910] -synonym: "Lfa1 immunodeficiency" RELATED [OMIM:116920] +synonym: "LFA1 immunodeficiency" EXACT [DOID:0110910, NCIT:C4689, OMIM:116920] +synonym: "Lfa1 immunodeficiency" RELATED [] synonym: "lymphocyte function-associated antigen 1 immunodeficiency" EXACT [DOID:0110910, OMIM:116920] xref: DOID:0110910 {source="MONDO:equivalentTo"} xref: GARD:6893 {source="MONDO:GARD"} @@ -146872,18 +146885,18 @@ subset: ordo_disorder {source="Orphanet:597"} subset: orphanet_rare {source="Orphanet:597"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:117000] -synonym: "Cco" RELATED [OMIM:117000] -synonym: "central core disease" EXACT [DOID:3529] -synonym: "central CORE disease of muscle" RELATED [MONDO:Lexical, OMIM:117000] -synonym: "minicore myopathy, moderate, with hand involvement" RELATED [OMIM:117000] -synonym: "multicore myopathy, moderate, with hand involvement" RELATED [OMIM:117000] -synonym: "multiminicore disease, moderate, with hand involvement" RELATED [OMIM:117000] +synonym: "CCD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Cco" RELATED [] +synonym: "central core disease" EXACT [DOID:3529, icd11.foundation:2065822840, NCIT:C83010, Orphanet:597] +synonym: "central CORE disease of muscle" RELATED [MONDO:Lexical] +synonym: "minicore myopathy, moderate, with hand involvement" RELATED [] +synonym: "multicore myopathy, moderate, with hand involvement" RELATED [] +synonym: "multiminicore disease, moderate, with hand involvement" RELATED [] synonym: "muscle core disease" RELATED [GARD:0006014] synonym: "muscular central core disease" RELATED [GARD:0006014] synonym: "myopathy, central core" RELATED [GARD:0006014] synonym: "myopathy, central fibrillar" RELATED [GARD:0006014] -synonym: "neuromuscular disease, congenital, with uniform type 1 Fiber" RELATED [OMIM:117000] +synonym: "neuromuscular disease, congenital, with uniform type 1 Fiber" RELATED [] synonym: "neuromuscular disease, congenital, with uniform type 1 Fibre" RELATED OMO:0003005 [] synonym: "Shy-Magee syndrome" RELATED [GARD:0006014] xref: DOID:3529 {source="MONDO:equivalentTo", source="EFO:1000855"} @@ -146921,22 +146934,22 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BCECTS" EXACT DEPRECATED [DOID:3329, Wikipedia:Rolandic_epilepsy] synonym: "BECRS" EXACT ABBREVIATION [Orphanet:1945] -synonym: "BECTS" EXACT DEPRECATED [Orphanet:1945] +synonym: "BECTS" EXACT DEPRECATED [NCIT:C116538, Orphanet:1945] synonym: "benign childhood epilepsy with centrotemporal spike" EXACT DEPRECATED [DOID:3329] synonym: "benign childhood epilepsy with centrotemporal spikes" EXACT DEPRECATED [NCIT:C116538] -synonym: "benign epilepsy of childhood with centrotemporal spikes" EXACT DEPRECATED [Orphanet:1945] +synonym: "benign epilepsy of childhood with centrotemporal spikes" EXACT DEPRECATED [OMIM:117100, Orphanet:1945] synonym: "benign epilepsy of childhood with centrotemporal spikes (BECCT)" RELATED DEPRECATED [GARD:0010287] synonym: "benign epilepsy with centro-temporal spikes (BECTS)" RELATED DEPRECATED [GARD:0010287] -synonym: "benign epilepsy with centrotemporal spikes" EXACT DEPRECATED [MONDO:0002611] -synonym: "benign familial epilepsy of childhood with rolandic spikes" EXACT DEPRECATED [Orphanet:1945] -synonym: "benign Rolandic epilepsy" EXACT DEPRECATED [DOID:3329, OMIM:117100, Orphanet:1945] +synonym: "benign epilepsy with centrotemporal spikes" EXACT DEPRECATED [DOID:3329, MONDO:0002611] +synonym: "benign familial epilepsy of childhood with rolandic spikes" EXACT DEPRECATED [icd11.foundation:1046279423, Orphanet:1945] +synonym: "benign Rolandic epilepsy" EXACT DEPRECATED [DOID:3329, NCIT:C116538, OMIM:117100, Orphanet:1945] synonym: "benign Rolandic epilepsy (BRE)" EXACT DEPRECATED [GARD:0010287] synonym: "benign Rolandic epilepsy of childhood (BREC)" EXACT DEPRECATED [GARD:0010287] -synonym: "BRE" EXACT DEPRECATED [Orphanet:1945] +synonym: "BRE" EXACT DEPRECATED [NCIT:C116538, Orphanet:1945] synonym: "centralopathic epilepsy" EXACT [OMIM:117100] synonym: "centrotemporal epilepsy" EXACT [OMIM:117100, Orphanet:1945] -synonym: "centrotemporal epilepsy, isolated cases" EXACT [OMIM:117100, OMIM:genemap2] -synonym: "Rolandic epilepsy" EXACT DEPRECATED [DOID:3329] +synonym: "centrotemporal epilepsy, isolated cases" EXACT [] +synonym: "Rolandic epilepsy" EXACT DEPRECATED [DOID:3329, icd11.foundation:1046279423, Orphanet:1945] synonym: "sylvan seizures" EXACT [DOID:3329] synonym: "temporal-central focal epilepsy" EXACT [OMIM:117100] xref: DOID:3329 {source="MONDO:equivalentTo"} @@ -146973,11 +146986,11 @@ subset: ordo_disorder {source="Orphanet:217012"} subset: orphanet_rare {source="Orphanet:217012"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCA31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:117210, Orphanet:217012] +synonym: "SCA31" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C176901, OMIM:117210, Orphanet:217012] synonym: "spinocerebellar ataxia 16q22-linked" RELATED [GARD:0009975] -synonym: "spinocerebellar ataxia 31" RELATED [MONDO:Lexical, OMIM:117210] -synonym: "spinocerebellar ataxia type 31" EXACT [MONDORULE:2, OMIM:117210] -synonym: "spinocerebellar ataxia, 16Q22-linked" RELATED [OMIM:117210] +synonym: "spinocerebellar ataxia 31" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 31" EXACT [DOID:0050980, icd11.foundation:250956064, MONDORULE:2, NCIT:C176901, Orphanet:217012] +synonym: "spinocerebellar ataxia, 16Q22-linked" RELATED [] xref: DOID:0050980 {source="MONDO:equivalentTo"} xref: GARD:9975 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:217012", source="Orphanet:217012/attributed", source="Orphanet:217012/ntbt"} @@ -147002,17 +147015,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:97346"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebellar ataxia, cataract, deafness, and dementia Or psychosis" EXACT [DOID:0070030] -synonym: "cerebellar ataxia, cataract, deafness, and dementia or psychosis" RELATED [OMIM:117300] -synonym: "cerebral amyloid angiopathy, ITM2B-RELATED, 2" RELATED [OMIM:117300] -synonym: "cerebral amyloid angiopathy, ITM2B-related, type 2" EXACT [MONDORULE:1, OMIM:117300] -synonym: "dementia, familial Danish" RELATED [OMIM:117300] +synonym: "cerebellar ataxia, cataract, deafness, and dementia Or psychosis" EXACT [DOID:0070030, OMIM:117300] +synonym: "cerebellar ataxia, cataract, deafness, and dementia or psychosis" RELATED [] +synonym: "cerebral amyloid angiopathy, ITM2B-RELATED, 2" RELATED [] +synonym: "cerebral amyloid angiopathy, ITM2B-related, type 2" EXACT [MONDORULE:1] +synonym: "dementia, familial Danish" RELATED [] synonym: "familial Danish dementia" EXACT [DOID:0070030, OMIM:117300] synonym: "familial dementia, Danish type" EXACT [Orphanet:97346] synonym: "FDD" EXACT ABBREVIATION [DOID:0070030] synonym: "Heredopathia Ophthalmootoencephalica" EXACT [DOID:0070030, OMIM:117300] synonym: "HOOE" EXACT ABBREVIATION [DOID:0070030] -synonym: "ITM2B-related cerebral amyloid angiopathy 2" RELATED [DOID:0070030] +synonym: "ITM2B-related cerebral amyloid angiopathy 2" RELATED [] xref: DOID:0070030 {source="MONDO:equivalentTo"} xref: GARD:9169 {source="MONDO:GARD"} xref: ICD10EXP:E85.4+ {source="Orphanet:97346", source="Orphanet:97346/attributed", source="Orphanet:97346/ntbt"} @@ -147039,15 +147052,15 @@ subset: orphanet_rare {source="Orphanet:208513"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACV" RELATED ABBREVIATION [GARD:0010480] -synonym: "aplasia of cerebellar vermis" RELATED [OMIM:117360] +synonym: "aplasia of cerebellar vermis" RELATED [] synonym: "cerebellar ataxia early-onset nonprogressive" RELATED [GARD:0010480] -synonym: "cerebellar ataxia, congenital nonprogressive, autosomal dominant" RELATED [OMIM:117360] -synonym: "cerebellar vermis aplasia" RELATED [OMIM:117360] +synonym: "cerebellar ataxia, congenital nonprogressive, autosomal dominant" RELATED [] +synonym: "cerebellar vermis aplasia" RELATED [] synonym: "congenital nonprogressive spinocerebellar ataxia" EXACT [Orphanet:208513] synonym: "SCA29" EXACT ABBREVIATION [MONDO:Lexical, OMIM:117360, Orphanet:208513] -synonym: "spinocerebellar ataxia 29" RELATED [MONDO:Lexical, OMIM:117360] -synonym: "spinocerebellar ataxia 29, congenital nonprogressive" EXACT [OMIM:117360, OMIM:genemap2] -synonym: "spinocerebellar ataxia type 29" EXACT [MONDORULE:2, OMIM:117360] +synonym: "spinocerebellar ataxia 29" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia 29, congenital nonprogressive" EXACT [] +synonym: "spinocerebellar ataxia type 29" EXACT [DOID:0050978, icd11.foundation:359640365, MONDORULE:2, Orphanet:208513] xref: DOID:0050978 {source="MONDO:equivalentTo"} xref: GARD:10480 {source="MONDO:GARD"} xref: ICD10CM:G11.0 {source="Orphanet:208513/attributed", source="Orphanet:208513/ntbt", source="Orphanet:208513"} @@ -147103,11 +147116,11 @@ subset: orphanet_rare {source="Orphanet:1393"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CCM syndrome" RELATED [GARD:0006026] -synonym: "CCMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:117650] +synonym: "CCMS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "cerebro-costo-mandibular syndrome" RELATED [GARD:0006026] -synonym: "CEREBROCOSTOMANDIBULAR syndrome" RELATED [OMIM:117650] -synonym: "cerebrocostomandibular syndrome" EXACT [MONDO:Lexical, OMIM:117650] -synonym: "rib Gap defects with micrognathia" RELATED [OMIM:117650] +synonym: "CEREBROCOSTOMANDIBULAR syndrome" RELATED [] +synonym: "cerebrocostomandibular syndrome" EXACT [DOID:0111248, icd11.foundation:1475063064, MONDO:Lexical, OMIM:117650, Orphanet:1393] +synonym: "rib Gap defects with micrognathia" RELATED [] xref: DOID:0111248 {source="MONDO:equivalentTo"} xref: GARD:6026 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1393/attributed", source="Orphanet:1393/ntbt", source="Orphanet:1393"} @@ -147133,7 +147146,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007302 name: cervical hypertrichosis with underlying kyphoscoliosis synonym: "cervical hypertrichosis with underlying kyphoscoliosis" EXACT [OMIM:117850] -synonym: "hypertrichosis, posterior cervical, with underlying kyphoscoliosis" RELATED [OMIM:117850] +synonym: "hypertrichosis, posterior cervical, with underlying kyphoscoliosis" RELATED [] xref: MEDGEN:349343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566142 {source="MONDO:equivalentTo"} xref: OMIM:117850 {source="MONDO:equivalentTo"} @@ -147145,7 +147158,7 @@ id: MONDO:0007303 name: cervical rib disease def: "A rib that is attached to a cervical vertebra or enlarged transverse processes." [https://orcid.org/0000-0002-6601-2165, OMIM:117900] comment: About 1 in 200 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. {source="https://patient.info/bones-joints-muscles/cervical-rib-thoracic-outlet-syndrome"} -synonym: "cervical rib" EXACT [OMIM:117900] +synonym: "cervical rib" EXACT [NCIT:C158329, OMIM:117900] synonym: "cervical rib syndrome" EXACT [MONDO:0006695] xref: HP:0000891 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0002-6601-2165"} xref: ICD9:756.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -147191,13 +147204,13 @@ def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a subset: gard_rare {source="GARD:15049", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1336"} subset: rare -synonym: "cervical vertebral fusion, autosomal dominant" RELATED [OMIM:118100] +synonym: "cervical vertebral fusion, autosomal dominant" RELATED [] synonym: "GDF6 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated Klippel-Feil syndrome caused by mutation in GDF6" EXACT [MONDO:design_pattern] -synonym: "Kfs" RELATED [OMIM:118100] -synonym: "KFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118100] +synonym: "Kfs" RELATED [] +synonym: "KFS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Klippel-Feil Syndrome" BROAD [NORD:1336] -synonym: "Klippel-FEIL syndrome 1, autosomal dominant" RELATED [OMIM:118100] +synonym: "Klippel-FEIL syndrome 1, autosomal dominant" RELATED [] synonym: "Klippel-Feil syndrome 1, autosomal dominant" EXACT [MONDO:Lexical, OMIM:118100] xref: DOID:0080589 {source="MONDO:equivalentTo"} xref: GARD:15049 {source="MONDO:GARD"} @@ -147225,23 +147238,23 @@ synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded mye synonym: "Charcot Marie Tooth disease type 1B" RELATED [GARD:0001246] synonym: "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy" EXACT [DOID:0110152] synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B" RELATED [OMIM:118200] -synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1B" RELATED [MONDO:Lexical, OMIM:118200] -synonym: "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy" RELATED [OMIM:118200] -synonym: "Charcot-Marie-Tooth disease, type 1B" EXACT [OMIM:118200, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B" RELATED [] +synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1B" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 1B" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 1B" EXACT [DOID:0110152] -synonym: "Charcot-Marie-Tooth neuropathy, type 1B" RELATED [OMIM:118200] +synonym: "Charcot-Marie-Tooth neuropathy, type 1B" RELATED [] synonym: "CMT 1B" RELATED [GARD:0001246] synonym: "CMT1B" EXACT ABBREVIATION [DOID:0110152, MONDO:Lexical, OMIM:118200, Orphanet:101082] -synonym: "hereditary motor and sensory neuropathy 1" RELATED [OMIM:118200] -synonym: "hereditary motor and sensory neuropathy 1B" RELATED [OMIM:118200] +synonym: "hereditary motor and sensory neuropathy 1" RELATED [] +synonym: "hereditary motor and sensory neuropathy 1B" RELATED [] synonym: "hereditary motor and sensory neuropathy IB" EXACT [DOID:0110152] synonym: "HMSN 1B" RELATED [GARD:0001246] synonym: "HMSN IB" EXACT ABBREVIATION [DOID:0110152] -synonym: "HMSN1" RELATED ABBREVIATION [OMIM:118200] +synonym: "HMSN1" RELATED ABBREVIATION [] synonym: "HMSN1B" EXACT ABBREVIATION [DOID:0110152, OMIM:118200] synonym: "MPZ Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "peroneal muscular atrophy" RELATED EXCLUDE [DOID:0110152] +synonym: "peroneal muscular atrophy" RELATED EXCLUDE [] xref: DOID:0110152 {source="MONDO:equivalentTo"} xref: GARD:1246 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="DOID:0110152", source="Orphanet:101082/attributed", source="Orphanet:101082/ntbt", source="Orphanet:101082"} @@ -147271,29 +147284,29 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1" EXACT [DOID:0110154] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A1" RELATED [Orphanet:99946] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A1" RELATED [] synonym: "Charcot Marie Tooth disease type 2A" RELATED [GARD:0001248] synonym: "Charcot-Marie-Tooth disease neuronal type 2A1" EXACT [DOID:0110154] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2A" EXACT [NCIT:C134952] -synonym: "Charcot-Marie-Tooth disease type 2A1" EXACT CLINGEN_LABEL [] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1" RELATED [OMIM:118210] +synonym: "Charcot-Marie-Tooth disease type 2A1" EXACT CLINGEN_LABEL [DOID:0110154, icd11.foundation:2087067372, NCIT:C150609] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1" RELATED [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2A" RELATED [GARD:0001248] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2A1" RELATED [MONDO:Lexical, OMIM:118210] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2A1" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A" RELATED [GARD:0001248] -synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A1" RELATED [OMIM:118210] -synonym: "Charcot-Marie-Tooth disease, type 2A1" EXACT [OMIM:118210, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A1" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 2A1" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2A1" EXACT [DOID:0110154] -synonym: "Charcot-Marie-Tooth neuropathy, type 2A1" RELATED [OMIM:118210] +synonym: "Charcot-Marie-Tooth neuropathy, type 2A1" RELATED [] synonym: "CMT 2A" RELATED [GARD:0001248] synonym: "CMT2A" EXACT ABBREVIATION [NCIT:C134952] -synonym: "CMT2A1" EXACT ABBREVIATION [DOID:0110154, MONDO:Lexical, OMIM:118210, Orphanet:99946] +synonym: "CMT2A1" EXACT ABBREVIATION [DOID:0110154, MONDO:Lexical, NCIT:C150609, OMIM:118210, Orphanet:99946] synonym: "hereditary motor and sensory neuropathy 2 A" RELATED [GARD:0001248] -synonym: "hereditary motor and sensory neuropathy IIA1" EXACT [DOID:0110154] -synonym: "hereditary motor and sensory neuropathy IIa1" RELATED [OMIM:118210] +synonym: "hereditary motor and sensory neuropathy IIA1" EXACT [DOID:0110154, OMIM:118210] +synonym: "hereditary motor and sensory neuropathy IIa1" RELATED [] synonym: "HMSN IIA" RELATED [GARD:0001248] -synonym: "HMSN IIA1" EXACT [DOID:0110154] -synonym: "HMSN IIa1" RELATED [OMIM:118210] +synonym: "HMSN IIA1" EXACT ABBREVIATION [DOID:0110154, OMIM:118210] +synonym: "HMSN IIa1" RELATED [] synonym: "HMSN2A1" EXACT ABBREVIATION [DOID:0110154, OMIM:118210] synonym: "KIF1B Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110154 {source="MONDO:equivalentTo"} @@ -147330,12 +147343,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A" EXACT [DOID:0110148] synonym: "Charcot Marie Tooth disease type 1A" RELATED [GARD:0001245] -synonym: "Charcot-Marie-Tooth disease type 1A" EXACT CLINGEN_LABEL [] -synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A" RELATED [OMIM:118220] -synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1A" RELATED [GARD:0001245, MONDO:Lexical, OMIM:118220] -synonym: "Charcot-Marie-Tooth disease, type 1A" EXACT [OMIM:118220, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease type 1A" EXACT CLINGEN_LABEL [DOID:0110148, NCIT:C75468, Orphanet:101081] +synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A" RELATED [] +synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1A" RELATED [GARD:0001245, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, type 1A" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 1A" EXACT [DOID:0110148] -synonym: "Charcot-Marie-Tooth neuropathy, type 1A" RELATED [OMIM:118220] +synonym: "Charcot-Marie-Tooth neuropathy, type 1A" RELATED [] synonym: "Charcot-Marie-Tooth syndrome type 1A" EXACT [DECIPHER:29] synonym: "CMT 1A" RELATED [GARD:0001245] synonym: "CMT1A" EXACT ABBREVIATION [DECIPHER:29, DOID:0110148, MONDO:Lexical, OMIM:118220, Orphanet:101081] @@ -147385,13 +147398,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant Charcot-Marie-Tooth neuropathy and deafness" EXACT [DOID:0110153] synonym: "Charcot Marie Tooth disease type 1E" RELATED [GARD:0009190] -synonym: "Charcot-Marie-Tooth disease and deafness" EXACT [DOID:0110153] +synonym: "Charcot-Marie-Tooth disease and deafness" EXACT [DOID:0110153, OMIM:118300] synonym: "Charcot-Marie-Tooth disease demyelinating type 1E" EXACT [DOID:0110153] -synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1E" RELATED [OMIM:118300] -synonym: "Charcot-Marie-Tooth disease, type 1E" EXACT [OMIM:118300, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1E" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 1E" EXACT [] synonym: "Charcot-Marie-Tooth disease-deafness" EXACT [DOID:0110153] synonym: "Charcot-Marie-Tooth disease-deafness syndrome" EXACT [Orphanet:90658] -synonym: "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant" RELATED [OMIM:118300] +synonym: "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant" RELATED [] synonym: "CMT 1E" RELATED [GARD:0009190] synonym: "CMT1E" EXACT ABBREVIATION [DOID:0110153, Orphanet:90658] xref: DOID:0110153 {source="MONDO:equivalentTo"} @@ -147431,7 +147444,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:1221"} subset: orphanet_rare {source="Orphanet:1221"} subset: rare -synonym: "cheilitis glandularis" EXACT [OMIM:118330] +synonym: "cheilitis glandularis" EXACT [OMIM:118330, Orphanet:1221] xref: GARD:412 {source="MONDO:GARD"} xref: ICD10CM:K13.0 {source="Orphanet:1221/ntbt", source="Orphanet:1221"} xref: MEDGEN:75626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -147466,9 +147479,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:184"} subset: orphanet_rare {source="Orphanet:184"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cherubism" EXACT [OMIM:118400] -synonym: "CRBM" EXACT ABBREVIATION [Orphanet:184] -synonym: "Crbm" RELATED [OMIM:118400] +synonym: "cherubism" EXACT [DOID:1856, icd11.foundation:1729261719, NCIT:C84630, OMIM:118400, Orphanet:184] +synonym: "CRBM" EXACT ABBREVIATION [OMIM:118400, Orphanet:184] +synonym: "Crbm" RELATED [] synonym: "familial fibrous dysplasia of the jaws" EXACT [NCIT:C84630] synonym: "familial multilocular cystic disease of the jaws" EXACT [NCIT:C84630] xref: DOID:1856 {source="MONDO:equivalentTo"} @@ -147511,12 +147524,12 @@ subset: orphanet_rare {source="Orphanet:268882"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Arnold-Chiari malformation type 1" EXACT [Orphanet:268882] -synonym: "Arnold-Chiari malformation type I" EXACT [Orphanet:268882] -synonym: "Chiari malformation type 1" EXACT [Orphanet:268882] -synonym: "Chiari malformation type 1 with syringomyelia" RELATED [OMIM:118420] -synonym: "Chiari malformation type I" EXACT [OMIM:118420, Orphanet:268882] -synonym: "Cm1" RELATED [OMIM:118420] -synonym: "Cm1 with syringomyelia" RELATED [OMIM:118420] +synonym: "Arnold-Chiari malformation type I" EXACT [icd11.foundation:1383121646, Orphanet:268882] +synonym: "Chiari malformation type 1" EXACT [OMIM:118420, Orphanet:268882] +synonym: "Chiari malformation type 1 with syringomyelia" RELATED [] +synonym: "Chiari malformation type I" EXACT [icd11.foundation:1383121646, Orphanet:268882] +synonym: "Cm1" RELATED [] +synonym: "Cm1 with syringomyelia" RELATED [] xref: GARD:9233 {source="MONDO:GARD"} xref: ICD10CM:G95.0 {source="Orphanet:268882", source="Orphanet:268882/attributed", source="Orphanet:268882/ntbt"} xref: icd11.foundation:1383121646 {source="Orphanet:268882", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -147533,9 +147546,9 @@ is_a: MONDO:0018075 {source="MONDO:0017085-obsoleted", source="https://github.co id: MONDO:0007317 name: obsolete chlorpropamide-alcohol flushing comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "CHLORPROPAMIDE-alcohol flushing" RELATED [OMIM:118430] -synonym: "chlorpropamide-alcohol flushing" EXACT [MONDO:Lexical, OMIM:118430] -synonym: "CPAF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118430] +synonym: "CHLORPROPAMIDE-alcohol flushing" RELATED [] +synonym: "chlorpropamide-alcohol flushing" EXACT [MONDO:Lexical] +synonym: "CPAF" RELATED ABBREVIATION [MONDO:Lexical] xref: OMIM:118430 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -147553,14 +147566,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:52"} subset: orphanet_rare {source="Orphanet:52"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alagille syndrome" EXACT [OMIM:118450] -synonym: "Alagille-Watson syndrome" EXACT [DOID:9245, Orphanet:52] -synonym: "Arteriohepatic dysplasia" EXACT [Orphanet:52] +synonym: "Alagille syndrome" EXACT [DOID:9245, icd11.foundation:1249656206, NCIT:C35139, OMIMPS:118450, Orphanet:52] +synonym: "Alagille-Watson syndrome" EXACT [DOID:9245, icd11.foundation:1249656206, Orphanet:52] +synonym: "Arteriohepatic dysplasia" EXACT [DOID:9245, icd11.foundation:1249656206, NCIT:C35139, Orphanet:52] synonym: "Cardiovertebral syndrome" RELATED [GARD:0000804] synonym: "hepatic ductular hypoplasia" RELATED [GARD:0000804] synonym: "Hepatofacioneurocardiovertebral syndrome" RELATED [GARD:0000804] synonym: "paucity of interlobular bile ducts" RELATED [GARD:0000804] -synonym: "syndromic bile duct paucity" EXACT [Orphanet:52] +synonym: "syndromic bile duct paucity" EXACT [icd11.foundation:1249656206, Orphanet:52] synonym: "Watson Alagille syndrome" RELATED [GARD:0000804] synonym: "Watson-Miller syndrome" RELATED [GARD:0000804] xref: DOID:9245 {source="MONDO:equivalentTo"} @@ -147600,17 +147613,17 @@ subset: ordo_disorder {source="Orphanet:1416"} subset: orphanet_rare {source="Orphanet:1416"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "calcium gout" RELATED [OMIM:118600] +synonym: "calcium gout" RELATED [] synonym: "calcium gout, familial" RELATED [GARD:0001292] -synonym: "calcium pyrophosphate arthropathy" RELATED [OMIM:118600] +synonym: "calcium pyrophosphate arthropathy" RELATED [] synonym: "calcium pyrophosphate arthropathy, familial" RELATED [GARD:0001292] synonym: "calcium pyrophosphate dihydrate crystal deposition disease" EXACT [Orphanet:1416] -synonym: "calcium pyrophosphate dihydrate deposition disease" RELATED [OMIM:118600] -synonym: "CCAL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118600] +synonym: "calcium pyrophosphate dihydrate deposition disease" RELATED [] +synonym: "CCAL2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "chondrocalcinosis 2" EXACT [MONDO:Lexical, OMIM:118600] synonym: "chondrocalcinosis familial articular" RELATED [GARD:0001292] -synonym: "chondrocalcinosis type 2" EXACT [MONDORULE:1, OMIM:118600] -synonym: "chondrocalcinosis, familial articular" RELATED [OMIM:118600] +synonym: "chondrocalcinosis type 2" EXACT [MONDORULE:1] +synonym: "chondrocalcinosis, familial articular" RELATED [] synonym: "CPPDD" RELATED ABBREVIATION [GARD:0001292] synonym: "familial articular chondrocalcinosis" EXACT [Orphanet:1416] synonym: "familial calcium pyrophosphate deposition" EXACT [Orphanet:1416] @@ -147640,7 +147653,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007320 name: chondrocalcinosis due to apatite crystal deposition synonym: "chondrocalcinosis due to apatite crystal deposition" EXACT [OMIM:118610] -synonym: "familial apatite disease" RELATED [OMIM:118610] +synonym: "familial apatite disease" RELATED [] xref: MEDGEN:349317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535939 {source="MONDO:equivalentTo"} xref: OMIM:118610 {source="MONDO:equivalentTo"} @@ -147658,11 +147671,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:79344"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chondrodysplasia punctata due to vitamin K deficiency" RELATED [OMIM:118650] -synonym: "chondrodysplasia punctata due to warfarin teratogenicity" RELATED [OMIM:118650] +synonym: "chondrodysplasia punctata due to vitamin K deficiency" RELATED [] +synonym: "chondrodysplasia punctata due to warfarin teratogenicity" RELATED [] synonym: "chondrodysplasia punctata Sheffield type" EXACT [] synonym: "chondrodysplasia punctata, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:118650] -synonym: "chondrodysplasia punctata, Sheffield type" EXACT [Orphanet:79344] +synonym: "chondrodysplasia punctata, Sheffield type" EXACT [] xref: DOID:0060293 {source="MONDO:equivalentTo"} xref: GARD:1298 {source="MONDO:GARD"} xref: ICD10CM:Q77.3 {source="Orphanet:79344/attributed", source="Orphanet:79344/ntbt", source="DOID:0060293", source="Orphanet:79344"} @@ -147688,8 +147701,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:79346"} subset: orphanet_rare {source="Orphanet:79346"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chondrodysplasia punctata, Mt type" RELATED [OMIM:118651] -synonym: "chondrodysplasia punctata, tibia-metacarpal type" RELATED [OMIM:118651] +synonym: "chondrodysplasia punctata, Mt type" RELATED [] +synonym: "chondrodysplasia punctata, tibia-metacarpal type" RELATED [] xref: GARD:16715 {source="MONDO:GARD"} xref: ICD10CM:Q77.3 {source="Orphanet:79346/attributed", source="Orphanet:79346/ntbt", source="Orphanet:79346"} xref: icd11.foundation:1513713461 {source="MONDO:equivalentTo"} @@ -147727,7 +147740,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "choreoathetosis, familial inverted" EXACT [OMIM:118750] -synonym: "infantile choreoathetosis of Fisher" RELATED [OMIM:118750] +synonym: "infantile choreoathetosis of Fisher" RELATED [] xref: MEDGEN:348393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566127 {source="MONDO:equivalentTo"} xref: OMIM:118750 {source="MONDO:equivalentTo"} @@ -147750,7 +147763,7 @@ name: chylomicronemia, familial, due to circulating inhibitor of lipoprotein lip subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase" EXACT [OMIM:118830] -synonym: "hyperlipoproteinemia, type 1C" RELATED [OMIM:118830] +synonym: "hyperlipoproteinemia, type 1C" RELATED [] xref: DOID:0111419 {source="MONDO:equivalentTo"} xref: MEDGEN:348391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566126 {source="MONDO:equivalentTo"} @@ -147777,17 +147790,17 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cirrhosis, cryptogenic" RELATED [OMIM:215600] -synonym: "cirrhosis, familial" EXACT [OMIM:118900, OMIM:215600] -synonym: "cirrhosis, familial, with pulmonary hypertension" RELATED [OMIM:215600] -synonym: "cirrhosis, Noncryptogenic, susceptibility to" RELATED [OMIM:215600] -synonym: "copper toxicosis, idiopathic" RELATED [OMIM:215600] -synonym: "copper-overload cirrhosis" RELATED [OMIM:215600] +synonym: "cirrhosis, cryptogenic" RELATED [] +synonym: "cirrhosis, familial" EXACT [OMIM:215600] +synonym: "cirrhosis, familial, with pulmonary hypertension" RELATED [] +synonym: "cirrhosis, Noncryptogenic, susceptibility to" RELATED [] +synonym: "copper toxicosis, idiopathic" RELATED [] +synonym: "copper-overload cirrhosis" RELATED [] synonym: "cryptogenic cirrhosis" EXACT [NCIT:C84411] -synonym: "endemic Tyrolean infantile cirrhosis" RELATED [OMIM:215600] +synonym: "endemic Tyrolean infantile cirrhosis" RELATED [] synonym: "hereditary cirrhosis of liver" EXACT [MONDO:patterns/hereditary] -synonym: "Indian childhood cirrhosis" RELATED [OMIM:215600] -synonym: "Sen syndrome" RELATED [OMIM:215600] +synonym: "Indian childhood cirrhosis" RELATED [] +synonym: "Sen syndrome" RELATED [] xref: MEDGEN:350049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566123 {source="MONDO:equivalentTo"} xref: NCIT:C84411 {source="MONDO:equivalentTo"} @@ -147811,9 +147824,9 @@ subset: ordo_disorder {source="Orphanet:66630"} subset: orphanet_rare {source="Orphanet:66630"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "clavicle, pseudarthrosis of, congenital" RELATED [OMIM:118980] +synonym: "clavicle, pseudarthrosis of, congenital" RELATED [] synonym: "congenital pseudarthrosis of the clavicle" EXACT [Orphanet:66630] -synonym: "congenital pseudoarthrosis of the clavicle" RELATED [Orphanet:66630] +synonym: "congenital pseudoarthrosis of the clavicle" RELATED [] xref: GARD:16673 {source="MONDO:GARD"} xref: ICD10CM:Q74.0 {source="Orphanet:66630/ntbt", source="Orphanet:66630/inclusion", source="Orphanet:66630"} xref: icd11.foundation:1844778103 {source="MONDO:equivalentTo"} @@ -147836,8 +147849,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007331 name: obsolete cleft chin comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0400001 -synonym: "Chin dimple" RELATED [OMIM:119000] -synonym: "cleft chin" EXACT [OMIM:119000] +synonym: "Chin dimple" RELATED [] +synonym: "cleft chin" EXACT [] xref: OMIM:119000 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/hpo-annotation-data/pull/234" xsd:anyURI @@ -147851,17 +147864,17 @@ name: split-hand/foot malformation with long bone deficiency 1 subset: gard_rare {source="GARD:15050", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aplasia of tibia with ectrodactyly" RELATED [MESH:C536425, OMIM:119100] +synonym: "aplasia of tibia with ectrodactyly" RELATED [MESH:C536425] synonym: "cleft hand absent tibia" RELATED [MESH:C536425] -synonym: "cleft hand and absent tibia" RELATED [MESH:C536425, OMIM:119100] -synonym: "ectrodactyly with aplasia of long bones" RELATED [MESH:C536425, OMIM:119100] +synonym: "cleft hand and absent tibia" RELATED [MESH:C536425] +synonym: "ectrodactyly with aplasia of long bones" RELATED [MESH:C536425] synonym: "SHFLD" RELATED ABBREVIATION [MESH:C536425] synonym: "SHFLD1" EXACT ABBREVIATION [MESH:C536425, MONDO:Lexical, OMIM:119100] synonym: "split-hand-foot malformation with long bone deficiency" RELATED [MESH:C536425] -synonym: "split-hand/foot malformation with long bone deficiency" RELATED [MESH:C536425, OMIM:119100] +synonym: "split-hand/foot malformation with long bone deficiency" RELATED [MESH:C536425] synonym: "split-hand/foot malformation with long bone deficiency 1" EXACT [MESH:C536425, MONDO:Lexical, OMIM:119100] synonym: "tibial aplasia with split-hand-split-foot deformity" RELATED [MESH:C536425] -synonym: "tibial aplasia with split-hand/split-foot deformity" RELATED [MESH:C536425, OMIM:119100] +synonym: "tibial aplasia with split-hand/split-foot deformity" RELATED [MESH:C536425] xref: GARD:15050 {source="MONDO:GARD"} xref: MEDGEN:349310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536425 {source="MONDO:equivalentTo"} @@ -147876,15 +147889,15 @@ name: van der Woude syndrome 1 def: "Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cleft lip and/or palate with mucous cysts of Lower lip" RELATED [OMIM:119300] +synonym: "cleft lip and/or palate with mucous cysts of Lower lip" RELATED [] synonym: "IRF6 van der Woude syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "lip-pit syndrome" RELATED [OMIM:119300] -synonym: "VAN DER Woude syndrome 1" RELATED [OMIM:119300] +synonym: "lip-pit syndrome" RELATED [] +synonym: "VAN DER Woude syndrome 1" RELATED [] synonym: "van der Woude syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:119300] synonym: "van der Woude syndrome caused by mutation in IRF6" EXACT [MONDO:design_pattern] -synonym: "Van Der Woude syndrome type 1" EXACT [MONDORULE:1, OMIM:119300] -synonym: "Vdws" RELATED [OMIM:119300] -synonym: "VWS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119300] +synonym: "Van Der Woude syndrome type 1" EXACT [MONDORULE:1] +synonym: "Vdws" RELATED [] +synonym: "VWS1" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:1640616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:119300 {source="MONDO:equivalentTo"} xref: Orphanet:888 {source="OMIM:119300"} @@ -147907,14 +147920,14 @@ subset: orphanet_rare {source="Orphanet:1300"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies" RELATED [GARD:0003242] -synonym: "cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies" RELATED [OMIM:119500] -synonym: "facio-genito-popliteal syndrome" BROAD [Orphanet:1300] -synonym: "faciogenitopopliteal syndrome" RELATED [OMIM:119500] -synonym: "popliteal pterygium syndrome" RELATED [MONDO:Lexical, OMIM:119500] -synonym: "popliteal pterygium syndrome 1" EXACT [OMIM:119500, OMIM:genemap2] +synonym: "cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies" RELATED [] +synonym: "facio-genito-popliteal syndrome" BROAD [] +synonym: "faciogenitopopliteal syndrome" RELATED [] +synonym: "popliteal pterygium syndrome" RELATED [MONDO:Lexical] +synonym: "popliteal pterygium syndrome 1" EXACT [] synonym: "popliteal pterygium syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "popliteal web syndrome" EXACT [Orphanet:1300] -synonym: "PPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119500] +synonym: "PPS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:3242 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:1300/attributed", source="Orphanet:1300/ntbt", source="Orphanet:1300"} xref: icd11.foundation:2069589860 {source="MONDO:equivalentTo"} @@ -147937,12 +147950,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007335 name: orofacial cleft 1 def: "Cleft lip with or without cleft palate mapped to chromosome 6p24." [NCIT:C124838] -synonym: "cleft lip with or without cleft palate, nonsyndromic, 1" RELATED [OMIM:119530] -synonym: "cleft Lip/palate, nonsyndromic" RELATED [OMIM:119530] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 1" RELATED [] +synonym: "cleft Lip/palate, nonsyndromic" RELATED [] synonym: "OFC1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:119530] -synonym: "orofacial cleft 1" EXACT [MONDO:Lexical, OMIM:119530] -synonym: "orofacial cleft, nonsyndromic" RELATED [OMIM:119530] -synonym: "orofacial cleft-1" EXACT [OMIM:119530, OMIM:genemap2] +synonym: "orofacial cleft 1" EXACT [DOID:0080395, MONDO:Lexical, NCIT:C124838, OMIM:119530] +synonym: "orofacial cleft, nonsyndromic" RELATED [] +synonym: "orofacial cleft-1" EXACT [] xref: DOID:0080395 {source="MONDO:equivalentTo"} xref: MEDGEN:349303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566121 {source="MONDO:equivalentTo"} @@ -147961,11 +147974,11 @@ def: "A cleft palate that is not part of a larger syndrome." [MONDO:patterns/iso subset: gard_rare {source="GARD:1896", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cleft palate" RELATED [OMIM:119540] -synonym: "cleft palate, isolated" RELATED [MONDO:Lexical, OMIM:119540] -synonym: "CPI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119540] +synonym: "cleft palate" RELATED [] +synonym: "cleft palate, isolated" RELATED [MONDO:Lexical] +synonym: "CPI" RELATED ABBREVIATION [MONDO:Lexical] synonym: "dominant cleft palate" RELATED [GARD:0001896] -synonym: "isolated cleft palate" EXACT CLINGEN_LABEL [] +synonym: "isolated cleft palate" EXACT CLINGEN_LABEL [DOID:0110213] synonym: "nonsyndromic cleft palate" EXACT [MONDO:patterns/isolated] xref: DOID:0110213 {source="MONDO:equivalentTo"} xref: GARD:1896 {source="MONDO:GARD"} @@ -147997,10 +148010,10 @@ subset: orphanet_rare {source="Orphanet:2016"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cleft palate lateral synechia syndrome" RELATED [GARD:0001391] -synonym: "cleft palate-lateral synechia syndrome" EXACT [OMIM:119550] -synonym: "CPLS syndrome" EXACT [Orphanet:2016] -synonym: "Cpls syndrome" RELATED [OMIM:119550] -synonym: "syngnathia" RELATED [OMIM:119550] +synonym: "cleft palate-lateral synechia syndrome" EXACT [DOID:0080313, OMIM:119550, Orphanet:2016] +synonym: "CPLS syndrome" EXACT [DOID:0080313, OMIM:119550, Orphanet:2016] +synonym: "Cpls syndrome" RELATED [] +synonym: "syngnathia" RELATED [] xref: DOID:0080313 {source="MONDO:equivalentTo"} xref: GARD:1391 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2016/attributed", source="Orphanet:2016/ntbt", source="Orphanet:2016"} @@ -148024,9 +148037,9 @@ subset: ordo_disorder {source="Orphanet:99772"} subset: ordo_morphological_anomaly {source="Orphanet:99772"} subset: orphanet_rare {source="Orphanet:99772"} subset: rare -synonym: "cleft soft palate" EXACT [OMIM:119570, Orphanet:99772] -synonym: "cleft velum" EXACT [DOID:0110214] -synonym: "cleft velum palatinum" EXACT [DOID:0110214, Orphanet:99772] +synonym: "cleft soft palate" EXACT [DOID:0110214, ICD10CM:Q35.3, icd11.foundation:797497023, OMIM:119570, Orphanet:99772] +synonym: "cleft velum" EXACT [DOID:0110214, icd11.foundation:797497023, Orphanet:99772] +synonym: "cleft velum palatinum" EXACT [DOID:0110214, icd11.foundation:797497023, Orphanet:99772] synonym: "soft cleft palate" EXACT [DOID:0110214] xref: DOID:0110214 {source="MONDO:equivalentTo"} xref: GARD:16907 {source="MONDO:GARD"} @@ -148053,21 +148066,21 @@ subset: orphanet_rare {source="Orphanet:1997"} subset: prototype_pattern subset: rare synonym: "BCD syndrome" EXACT [Orphanet:1997] -synonym: "BCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119580] -synonym: "BCDS1" RELATED ABBREVIATION [OMIM:119580] +synonym: "BCDS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "BCDS1" RELATED ABBREVIATION [] synonym: "blepharo-cheilo-dontic syndrome" RELATED [GARD:0002071] -synonym: "blepharo-cheilo-odontic syndrome" EXACT [DOID:0080344] -synonym: "blepharocheilodontic syndrome" EXACT [GARD:0002071, MONDO:Lexical, OMIM:119580, Orphanet:1997] -synonym: "blepharocheilodontic syndrome 1" RELATED [OMIM:119580] -synonym: "clefting, ectropion, and conical teeth" RELATED [GARD:0002071, OMIM:119580] +synonym: "blepharo-cheilo-odontic syndrome" EXACT [DOID:0080344, Orphanet:1997] +synonym: "blepharocheilodontic syndrome" EXACT [DOID:0080344, GARD:0002071, icd11.foundation:755252042, MONDO:Lexical, OMIMPS:119580, Orphanet:1997] +synonym: "blepharocheilodontic syndrome 1" RELATED [] +synonym: "clefting, ectropion, and conical teeth" RELATED [GARD:0002071] synonym: "clefting-ectropion-conical teeth syndrome" EXACT [Orphanet:1997] synonym: "ectropion inferior cleft lip and or palate" RELATED [GARD:0002071] -synonym: "ectropion inferior-cleft lip and or palate syndrome" EXACT [Orphanet:1997] +synonym: "ectropion inferior-cleft lip and or palate syndrome" EXACT [] synonym: "ectropion inferior-cleft lip and/or palate syndrome" EXACT [Orphanet:1997] -synonym: "ectropion, inferior, with cleft lip and/or palate" RELATED [OMIM:119580] -synonym: "Elsching syndrome" EXACT [Orphanet:1997] -synonym: "Elschnig syndrome" RELATED [GARD:0002071, OMIM:119580] -synonym: "lagophthalmia with bilateral cleft lip and palate" RELATED [GARD:0002071, OMIM:119580] +synonym: "ectropion, inferior, with cleft lip and/or palate" RELATED [] +synonym: "Elsching syndrome" EXACT [] +synonym: "Elschnig syndrome" RELATED [GARD:0002071] +synonym: "lagophthalmia with bilateral cleft lip and palate" RELATED [GARD:0002071] synonym: "lagophthalmia-cleft lip and palate syndrome" EXACT [Orphanet:1997] xref: DOID:0080344 {source="MONDO:equivalentTo"} xref: GARD:2071 {source="MONDO:GARD"} @@ -148098,13 +148111,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:1452"} subset: orphanet_rare {source="Orphanet:1452"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119600] +synonym: "CCD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CLCD" RELATED ABBREVIATION [GARD:0006118] -synonym: "cleidocranial dysostosis" EXACT [DOID:13994, OMIM:119600, Orphanet:1452] -synonym: "Cleidocranial Dysplasia" EXACT [NORD:978] -synonym: "cleidocranial dysplasia" EXACT [MONDO:Lexical, OMIM:119600] -synonym: "cleidocranial dysplasia, forme fruste, dental anomalies only" RELATED [OMIM:119600] -synonym: "cleidocranial dysplasia, forme fruste, with brachydactyly" RELATED [OMIM:119600] +synonym: "cleidocranial dysostosis" EXACT [DOID:13994, NCIT:C75020, OMIM:119600, Orphanet:1452] +synonym: "Cleidocranial Dysplasia" EXACT [DOID:13994, NCIT:C75020, NORD:978, Orphanet:1452] +synonym: "cleidocranial dysplasia" EXACT [DOID:13994, MONDO:Lexical, NCIT:C75020, Orphanet:1452] +synonym: "cleidocranial dysplasia, forme fruste, dental anomalies only" RELATED [] +synonym: "cleidocranial dysplasia, forme fruste, with brachydactyly" RELATED [] synonym: "dysplasia cleidocranial" RELATED [GARD:0006118] synonym: "Marie-Sainton disease" EXACT [DOID:13994] xref: DOID:13994 {source="MONDO:equivalentTo"} @@ -148137,7 +148150,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle" RELATED [GARD:0005532] synonym: "cleido rhizomelic syndrome" RELATED [GARD:0005532] -synonym: "cleidorhizomelic syndrome" EXACT [OMIM:119650] +synonym: "cleidorhizomelic syndrome" EXACT [OMIM:119650, Orphanet:1453] synonym: "rhizomelic shortness with clavicular defect" EXACT [Orphanet:1453] synonym: "Wallis Zieff Goldblatt syndrome" RELATED [GARD:0005532] synonym: "Wallis-Zieff-Goldblatt syndrome" EXACT [Orphanet:1453] @@ -148163,15 +148176,15 @@ def: "The most common congenital deformation of the foot, occurring in 1 of 1,00 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CCF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:119800] +synonym: "CCF" RELATED ABBREVIATION [MONDO:Lexical] synonym: "club foot" EXACT [NCIT:C84641] synonym: "clubbed foot" EXACT [NCIT:C84641] -synonym: "clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly" RELATED [MONDO:Lexical, OMIM:119800] +synonym: "clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly" RELATED [MONDO:Lexical] synonym: "congenital clubfoot" EXACT [DOID:11836] synonym: "congenital equinovarus" EXACT [DOID:11836] synonym: "congenital talipes equinovarus" EXACT [DOID:11836] synonym: "equinovarus deformity of foot" EXACT [DOID:11836] -synonym: "equinovarus deformity of foot (finding)" EXACT [DOID:11836] +synonym: "equinovarus deformity of foot (finding)" EXACT [] synonym: "talipes" EXACT [NCIT:C84641] synonym: "talipes equinovarus" EXACT [NCIT:C84641] xref: DOID:11836 {source="MONDO:equivalentTo"} @@ -148212,11 +148225,11 @@ subset: ordo_morphological_anomaly {source="Orphanet:217059"} subset: orphanet_rare {source="Orphanet:217059"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acropachy, hereditary" RELATED [OMIM:119900] -synonym: "clubbing of digits" RELATED [OMIM:119900] -synonym: "digital clubbing, isolated congenital" RELATED [OMIM:119900] +synonym: "acropachy, hereditary" RELATED [] +synonym: "clubbing of digits" RELATED [] +synonym: "digital clubbing, isolated congenital" RELATED [] synonym: "isolated congenital acropachy" EXACT [Orphanet:217059] -synonym: "isolated congenital nail clubbing" EXACT [Orphanet:217059] +synonym: "isolated congenital nail clubbing" EXACT [] xref: GARD:17117 {source="MONDO:GARD"} xref: ICD10CM:Q68.1 {source="Orphanet:217059/ntbt", source="Orphanet:217059/inclusion", source="Orphanet:217059"} xref: icd11.foundation:130631845 {source="MONDO:equivalentTo", source="Orphanet:217059", source="https://orcid.org/0000-0002-4142-7153"} @@ -148258,8 +148271,8 @@ subset: ordo_morphological_anomaly {source="Orphanet:1457"} subset: orphanet_rare {source="Orphanet:1457"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aortic coarctation" EXACT [NCIT:C84567] -synonym: "coarctation of aorta" RELATED [OMIM:120000] +synonym: "aortic coarctation" EXACT [icd11.foundation:1524185114, NCIT:C84567] +synonym: "coarctation of aorta" RELATED [] synonym: "coarctation of the aorta" RELATED [GARD:0005828] xref: EFO:1001267 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5828 {source="MONDO:GARD"} @@ -148298,7 +148311,7 @@ subset: rare synonym: "Cochleosaccular Degeneration" RELATED [MESH:C536432] synonym: "Cochleosaccular degeneration of the inner ear and progressive cataracts" RELATED [GARD:0009418] synonym: "Cochleosaccular Degeneration of the inner Ear with progressive cataracts" RELATED [MESH:C536432] -synonym: "COCHLEOSACCULAR degeneration with progressive cataracts" RELATED [OMIM:120040] +synonym: "COCHLEOSACCULAR degeneration with progressive cataracts" RELATED [] xref: GARD:9418 {source="MONDO:GARD"} xref: MEDGEN:348378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536432 {source="MONDO:equivalentTo"} @@ -148314,17 +148327,17 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9418/cochleo id: MONDO:0007347 name: obsolete Coxsackievirus B3 susceptibility comment: obsoleted as it represents a susceptibility not a disease -synonym: "Cb3S" RELATED [OMIM:120050] -synonym: "Coxsackievirus B3 susceptibility" RELATED [MONDO:Lexical, OMIM:120050] -synonym: "CXB3S" EXACT ABBREVIATION [MONDO:Lexical, OMIM:120050] +synonym: "Cb3S" RELATED [] +synonym: "Coxsackievirus B3 susceptibility" RELATED [MONDO:Lexical] +synonym: "CXB3S" EXACT ABBREVIATION [MONDO:Lexical] xref: OMIM:120050 {source="MONDO:obsoleteEquivalent"} is_obsolete: true [Term] id: MONDO:0007348 name: obsolete colchicine resistance -synonym: "colchicine resistance" EXACT [OMIM:120080] -synonym: "colchicine sensitivity" RELATED [OMIM:120080] +synonym: "colchicine resistance" EXACT [] +synonym: "colchicine sensitivity" RELATED [] xref: OMIM:120080 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -148336,16 +148349,16 @@ subset: gard_rare {source="GARD:15051", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cold hypersensitivity" RELATED [OMIM:120100] -synonym: "cold urticaria, familial" RELATED [OMIM:120100] -synonym: "cold-induced autoinflammatory syndrome, familial" RELATED [OMIM:120100] -synonym: "Cryopyrin-associated periodic syndrome 1" RELATED [OMIM:120100] -synonym: "familial cold autoinflammatory syndrome 1" EXACT [MONDO:Lexical, OMIM:120100] +synonym: "cold hypersensitivity" RELATED [] +synonym: "cold urticaria, familial" RELATED [] +synonym: "cold-induced autoinflammatory syndrome, familial" RELATED [] +synonym: "Cryopyrin-associated periodic syndrome 1" RELATED [] +synonym: "familial cold autoinflammatory syndrome 1" EXACT [DOID:0090062, MONDO:Lexical, OMIM:120100] synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRP3" EXACT [MONDO:design_pattern] -synonym: "familial cold autoinflammatory syndrome type 1" EXACT [DOID:0090062, MONDORULE:1, OMIM:120100] -synonym: "familial cold inflammatory syndrome 1" EXACT [OMIM:120100, OMIM:genemap2] -synonym: "Fcas" RELATED [OMIM:120100] -synonym: "FCAS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:120100] +synonym: "familial cold autoinflammatory syndrome type 1" EXACT [MONDORULE:1] +synonym: "familial cold inflammatory syndrome 1" EXACT [] +synonym: "Fcas" RELATED [] +synonym: "FCAS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "NLRP3 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090062 {source="MONDO:equivalentTo"} xref: GARD:15051 {source="MONDO:GARD"} @@ -148365,10 +148378,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007350 name: coloboma, ocular, autosomal dominant subset: otar {source="MONDO:OTAR"} -synonym: "coloboma of iris, choroid, and retina" RELATED [OMIM:120200] -synonym: "coloboma, ocular" EXACT [OMIM:120200, OMIM:genemap2] +synonym: "coloboma of iris, choroid, and retina" RELATED [] +synonym: "coloboma, ocular" EXACT [] synonym: "coloboma, ocular, autosomal dominant" EXACT [OMIM:120200] -synonym: "coloboma, Uveoretinal" RELATED [OMIM:120200] +synonym: "coloboma, Uveoretinal" RELATED [] xref: OMIM:120200 {source="MONDO:equivalentTo"} xref: Orphanet:194 {source="OMIM:120200"} xref: Orphanet:98942 {source="OMIM:120200"} @@ -148388,8 +148401,8 @@ subset: ordo_morphological_anomaly {source="Orphanet:98945"} subset: orphanet_rare {source="Orphanet:98945"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "agenesis of macula" RELATED [OMIM:120300] -synonym: "coloboma of macula" EXACT [OMIM:120300] +synonym: "agenesis of macula" RELATED [] +synonym: "coloboma of macula" EXACT [icd11.foundation:366058642, OMIM:120300, Orphanet:98945] synonym: "hereditary macular coloboma (subtype)" RELATED [GARD:0001436] synonym: "macular coloboma" RELATED [GARD:0001436] xref: GARD:1436 {source="MONDO:GARD"} @@ -148413,18 +148426,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:1475"} subset: orphanet_rare {source="Orphanet:1475"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CAKUT with or without ocular abnormalities" EXACT [DOID:0090006] -synonym: "coloboma of optic nerve with renal disease" EXACT [DOID:0090006, Orphanet:1475] +synonym: "CAKUT with or without ocular abnormalities" EXACT [DOID:0090006, OMIM:120330] +synonym: "coloboma of optic nerve with renal disease" EXACT [DOID:0090006, OMIM:120330, Orphanet:1475] synonym: "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities" EXACT [DOID:0090006, OMIM:120330] synonym: "optic coloboma, vesicoureteral reflux and renal anomalies" EXACT [DOID:0090006] -synonym: "optic coloboma, vesicoureteral reflux, and renal anomalies" RELATED [OMIM:120330] -synonym: "optic nerve coloboma with renal disease" RELATED [OMIM:120330] +synonym: "optic coloboma, vesicoureteral reflux, and renal anomalies" RELATED [] +synonym: "optic nerve coloboma with renal disease" RELATED [] synonym: "Papillo-renal syndrome" EXACT [Orphanet:1475] synonym: "papillo-renal syndrome, optic nerve coloboma with renal disease" EXACT [DOID:0090006] -synonym: "PAPILLORENAL syndrome" RELATED [MONDO:Lexical, OMIM:120330] -synonym: "papillorenal syndrome" EXACT [DOID:0090006] -synonym: "PAPRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:120330] -synonym: "renal-coloboma syndrome" RELATED [OMIM:120330] +synonym: "PAPILLORENAL syndrome" RELATED [MONDO:Lexical] +synonym: "papillorenal syndrome" EXACT [DOID:0090006, NCIT:C123230, OMIM:120330] +synonym: "PAPRS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "renal-coloboma syndrome" RELATED [] synonym: "renal-coloboma syndrome with macular abnormalities" EXACT [DOID:0090006, OMIM:120330] xref: DOID:0090006 {source="MONDO:equivalentTo"} xref: GARD:4106 {source="MONDO:GARD"} @@ -148455,8 +148468,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1471"} subset: orphanet_rare {source="Orphanet:1471"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "apical dystrophy" RELATED [OMIM:120400] -synonym: "coloboma of macula with type B brachydactyly" RELATED [OMIM:120400] +synonym: "apical dystrophy" RELATED [] +synonym: "coloboma of macula with type B brachydactyly" RELATED [] synonym: "Sorsby syndrome" EXACT [OMIM:120400, Orphanet:1471] xref: GARD:1437 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:1471/attributed", source="Orphanet:1471/ntbt", source="Orphanet:1471"} @@ -148478,13 +148491,13 @@ subset: orphanet_rare {source="Orphanet:98947"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "coloboma of optic disc" RELATED OMO:0003005 [] -synonym: "coloboma of optic disk" RELATED EXCLUDE [DOID:11975] +synonym: "coloboma of optic disk" RELATED EXCLUDE [] synonym: "coloboma of optic nerve (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "coloboma of optic papilla" EXACT [Orphanet:98947] +synonym: "coloboma of optic papilla" EXACT [icd11.foundation:592278969, Orphanet:98947] synonym: "congenital coloboma of the optic nerve" NARROW [GARD:0008502] -synonym: "morning glory Disc anomaly" RELATED [OMIM:120430] +synonym: "morning glory Disc anomaly" RELATED [] synonym: "optic nerve coloboma" EXACT [GARD:0008502] -synonym: "optic nerve head pits, bilateral congenital" RELATED [OMIM:120430] +synonym: "optic nerve head pits, bilateral congenital" RELATED [] xref: DOID:11975 {source="MONDO:equivalentTo"} xref: GARD:1438 {source="MONDO:GARD"} xref: HP:0000588 {source="MONDO:otherHierarchy"} @@ -148523,14 +148536,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:1473"} subset: orphanet_rare {source="Orphanet:1473"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COB1" RELATED DEPRECATED [MONDO:Lexical, OMIM:120433] +synonym: "COB1" RELATED DEPRECATED [MONDO:Lexical] synonym: "coloboma, cleft lip/palate and intellectual disability syndrome" RELATED [GARD:0001440] synonym: "coloboma, cleft lip/palate and mental retardation syndrome" RELATED DEPRECATED [GARD:0001440] -synonym: "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability" RELATED [MONDO:Lexical, OMIM:120433] -synonym: "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:120433] +synonym: "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability" RELATED [MONDO:Lexical] +synonym: "coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation" RELATED DEPRECATED [MONDO:Lexical] synonym: "coloboma-microphthalmos syndrome" RELATED [GARD:0001440] synonym: "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate" RELATED [GARD:0001440] -synonym: "uveal coloboma-cleft lip and palate-intellectual disability" EXACT CLINGEN_LABEL [] +synonym: "uveal coloboma-cleft lip and palate-intellectual disability" EXACT CLINGEN_LABEL [DOID:0111249, Orphanet:1473] synonym: "uveal coloboma-cleft lip/palate-intellectual disability syndrome" RELATED [GARD:0001440] synonym: "uveal coloboma-cleft lip/palate-mental retardation syndrome" RELATED DEPRECATED [GARD:0001440] xref: DOID:0111249 {source="MONDO:equivalentTo"} @@ -148553,18 +148566,18 @@ def: "Any Lynch syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:15052", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "COCA1" RELATED ABBREVIATION [OMIM:120435] -synonym: "colon cancer, familial nonpolyposis, type 1" RELATED [OMIM:120435] -synonym: "colorectal cancer, hereditary nonpolyposis, type 1" RELATED [OMIM:120435] +synonym: "COCA1" RELATED ABBREVIATION [] +synonym: "colon cancer, familial nonpolyposis, type 1" RELATED [] +synonym: "colorectal cancer, hereditary nonpolyposis, type 1" RELATED [] synonym: "familial non-polyposis colon cancer type 1" EXACT [NCIT:C6725] synonym: "Hereditary non-polyposis colon cancer type 1" EXACT [NCIT:C6725] -synonym: "hereditary nonpolyposis colorectal cancer type 1" EXACT [NCIT:C6725] -synonym: "HNPCC1" EXACT ABBREVIATION [NCIT:C6725] +synonym: "hereditary nonpolyposis colorectal cancer type 1" EXACT [DOID:0070271, NCIT:C6725] +synonym: "HNPCC1" EXACT ABBREVIATION [DOID:0070271, NCIT:C6725] synonym: "Lynch 1 syndrome" EXACT [NCIT:C6725] -synonym: "Lynch syndrome 1" EXACT CLINGEN_LABEL [] -synonym: "Lynch syndrome 2" RELATED [OMIM:120435] -synonym: "LYNCH syndrome I" RELATED [OMIM:120435] -synonym: "Lynch syndrome type 1" EXACT [MONDORULE:1, OMIM:120435] +synonym: "Lynch syndrome 1" EXACT CLINGEN_LABEL [DOID:0070271, NCIT:C6725, OMIM:120435] +synonym: "Lynch syndrome 2" RELATED [] +synonym: "LYNCH syndrome I" RELATED [] +synonym: "Lynch syndrome type 1" EXACT [MONDORULE:1] xref: DOID:0070271 {source="MONDO:equivalentTo"} xref: GARD:15052 {source="MONDO:GARD"} xref: MEDGEN:423615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -148603,7 +148616,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007359 name: commissural lip pits -synonym: "commissural lip pits" EXACT [OMIM:120500] +synonym: "commissural lip pits" EXACT [] xref: MEDGEN:98001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:120500 {source="MONDO:equivalentTo"} xref: SCTID:109550008 {source="MONDO:equivalentTo"} @@ -148616,9 +148629,9 @@ name: branchiootic syndrome 2 subset: gard_rare {source="GARD:15053", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "bo syndrome 2" RELATED [OMIM:120502] +synonym: "bo syndrome 2" RELATED [] synonym: "branchiootic syndrome 2" EXACT [OMIM:120502] -synonym: "branchiootic syndrome type 2" EXACT [MONDORULE:1, OMIM:120502] +synonym: "branchiootic syndrome type 2" EXACT [MONDORULE:1] xref: GARD:15053 {source="MONDO:GARD"} xref: MEDGEN:377737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565171 {source="MONDO:equivalentTo"} @@ -148632,8 +148645,8 @@ id: MONDO:0007361 name: C1 inhibitor deficiency subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "complement component 4, partial deficiency OF" RELATED [OMIM:120790] -synonym: "Quincke edema" RELATED EXCLUDE [DOID:0060002] +synonym: "complement component 4, partial deficiency OF" RELATED [] +synonym: "Quincke edema" RELATED EXCLUDE [] synonym: "Quincke oedema" RELATED OMO:0003005 [] xref: DOID:0060002 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.1 {source="Orphanet:459353/inclusion", source="Orphanet:459353", source="Orphanet:459353/ntbt"} @@ -148656,18 +148669,18 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:6145", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy" RELATED [OMIM:120970] -synonym: "cone-rod dystrophy 2" EXACT [MONDO:Lexical, OMIM:120970] +synonym: "cone-rod dystrophy" RELATED [] +synonym: "cone-rod dystrophy 2" EXACT [DOID:0111005, MONDO:Lexical, NCIT:C162399, OMIM:120970] synonym: "cone-rod dystrophy caused by mutation in CRX" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 2" EXACT [DOID:0111005, MONDORULE:1, OMIM:120970] -synonym: "cone-rod retinal dystrophy" RELATED [OMIM:120970] +synonym: "cone-rod dystrophy type 2" EXACT [MONDORULE:1] +synonym: "cone-rod retinal dystrophy" RELATED [] synonym: "cone-rod retinal dystrophy 2" EXACT [DOID:0111005] -synonym: "cone-rod retinal dystrophy-2" EXACT [OMIM:120970, OMIM:genemap2] -synonym: "CORD2" EXACT ABBREVIATION [DOID:0111005, MONDO:Lexical, OMIM:120970] -synonym: "CRD2" EXACT ABBREVIATION [DOID:0111005] +synonym: "cone-rod retinal dystrophy-2" EXACT [] +synonym: "CORD2" EXACT ABBREVIATION [DOID:0111005, MONDO:Lexical, NCIT:C162399, OMIM:120970] +synonym: "CRD2" EXACT ABBREVIATION [DOID:0111005, NCIT:C162399] synonym: "CRX cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RCRD2" EXACT ABBREVIATION [DOID:0111005] -synonym: "retinal cone-rod dystrophy" RELATED [OMIM:120970] +synonym: "retinal cone-rod dystrophy" RELATED [] synonym: "retinal cone-rod dystrophy 2" EXACT [DOID:0111005] xref: DOID:0111005 {source="MONDO:equivalentTo"} xref: GARD:6145 {source="MONDO:GARD"} @@ -148697,15 +148710,15 @@ subset: orphanet_rare {source="Orphanet:115"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arachnodactyly, contractural Beals type" RELATED [GARD:0005899] -synonym: "arthrogryposis, distal, type 9" RELATED [MONDO:Lexical, OMIM:121050] -synonym: "Beals syndrome" EXACT [OMIM:121050, Orphanet:115] -synonym: "Beals-Hecht syndrome" EXACT [Orphanet:115] -synonym: "CCA" EXACT ABBREVIATION [NCIT:C129865] +synonym: "arthrogryposis, distal, type 9" RELATED [MONDO:Lexical] +synonym: "Beals syndrome" EXACT [DOID:0111595, icd11.foundation:1376425921, NCIT:C129865, OMIM:121050, Orphanet:115] +synonym: "Beals-Hecht syndrome" EXACT [DOID:0111595, Orphanet:115] +synonym: "CCA" EXACT ABBREVIATION [DOID:0111595, NCIT:C129865, OMIM:121050] synonym: "CCA syndrome" EXACT [Orphanet:115] -synonym: "contractural arachnodactyly, congenital" RELATED [OMIM:121050] +synonym: "contractural arachnodactyly, congenital" RELATED [] synonym: "contractures, multiple with arachnodactyly" RELATED [GARD:0005899] -synonym: "DA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121050] -synonym: "distal arthrogryposis type 9" EXACT [Orphanet:115] +synonym: "DA9" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "distal arthrogryposis type 9" EXACT [DOID:0111595, icd11.foundation:1376425921, Orphanet:115] synonym: "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" RELATED [GARD:0005899] xref: DOID:0111595 {source="MONDO:equivalentTo"} xref: GARD:5899 {source="MONDO:GARD"} @@ -148736,7 +148749,7 @@ subset: gard_rare {source="GARD:10135", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arthrogryposis, distal, type 2E" EXACT [OMIM:121070] -synonym: "contractures of fingers and jaw" RELATED [OMIM:121070] +synonym: "contractures of fingers and jaw" RELATED [] xref: GARD:10135 {source="MONDO:GARD"} xref: MEDGEN:343844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535384 {source="MONDO:equivalentTo"} @@ -148751,14 +148764,14 @@ def: "Any benign neonatal seizures in which the cause of the disease is a mutati subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "benign neonatal seizures caused by mutation in KCNQ2" EXACT [MONDO:design_pattern] -synonym: "BFNS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121200] -synonym: "epilepsy, benign neonatal, 1, and/or myokymia" RELATED [OMIM:121200] +synonym: "BFNS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "epilepsy, benign neonatal, 1, and/or myokymia" RELATED [] synonym: "KCNQ2 benign neonatal seizures" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "myokymia" BROAD [OMIM:121200, OMIM:genemap2] +synonym: "myokymia" BROAD [] synonym: "seizures, benign familial neonatal, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:121200] -synonym: "seizures, benign familial neonatal, 1, and/or myokymia" RELATED [OMIM:121200] -synonym: "seizures, benign familial neonatal, type 1" EXACT [MONDORULE:1, OMIM:121200] -synonym: "seizures, benign neonatal, 1" EXACT [OMIM:121200, OMIM:genemap2] +synonym: "seizures, benign familial neonatal, 1, and/or myokymia" RELATED [] +synonym: "seizures, benign familial neonatal, type 1" EXACT [MONDORULE:1] +synonym: "seizures, benign neonatal, 1" EXACT [] xref: MEDGEN:460425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567743 {source="MONDO:equivalentTo"} xref: OMIM:121200 {source="MONDO:equivalentTo"} @@ -148778,12 +148791,12 @@ subset: gard_rare {source="GARD:15054", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "benign neonatal seizures caused by mutation in KCNQ3" EXACT [MONDO:design_pattern] -synonym: "BFNS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121201] -synonym: "convulsions, benign familial neonatal, 2" RELATED [OMIM:121201] +synonym: "BFNS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "convulsions, benign familial neonatal, 2" RELATED [] synonym: "KCNQ3 benign neonatal seizures" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "seizures, benign familial neonatal, 2" EXACT [MONDO:Lexical, OMIM:121201] -synonym: "seizures, benign familial neonatal, type 2" EXACT [MONDORULE:1, OMIM:121201] -synonym: "seizures, benign neonatal, 2" EXACT [OMIM:121201, OMIM:genemap2] +synonym: "seizures, benign familial neonatal, type 2" EXACT [MONDORULE:1] +synonym: "seizures, benign neonatal, 2" EXACT [] xref: GARD:15054 {source="MONDO:GARD"} xref: MEDGEN:377707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:121201 {source="MONDO:equivalentTo"} @@ -148798,9 +148811,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007367 name: febrile seizures, familial, 1 -synonym: "convulsions, familial febrile" RELATED [OMIM:121210] -synonym: "convulsions, familial febrile, 1" RELATED [OMIM:121210] -synonym: "FEB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:121210] +synonym: "convulsions, familial febrile" RELATED [] +synonym: "convulsions, familial febrile, 1" RELATED [] +synonym: "FEB1" EXACT ABBREVIATION [DOID:0111307, MONDO:Lexical, OMIM:121210] synonym: "febrile seizures, familial, 1" EXACT [MONDO:Lexical, OMIM:121210] xref: DOID:0111307 {source="MONDO:equivalentTo"} xref: ICD9:780.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -148822,7 +148835,7 @@ subset: ordo_disorder {source="Orphanet:1551"} subset: orphanet_rare {source="Orphanet:1551"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "copper deficiency, familial benign" RELATED [OMIM:121270] +synonym: "copper deficiency, familial benign" RELATED [] synonym: "familial benign hypocupremia" RELATED [GARD:0001522] xref: GARD:1522 {source="MONDO:GARD"} xref: ICD10CM:E83.0 {source="Orphanet:1551/attributed", source="Orphanet:1551/ntbt", source="Orphanet:1551"} @@ -148847,15 +148860,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "coproporphyria" RELATED [GARD:0006619] synonym: "coproporphyria hereditary" RELATED [GARD:0006619] -synonym: "coproporphyria, hereditary" RELATED [MONDO:Lexical, OMIM:121300] -synonym: "coproporphyrinogen oxidase deficiency" EXACT [DOID:13269, OMIM:121300] -synonym: "Cpo deficiency" RELATED [OMIM:121300] -synonym: "Cpox deficiency" RELATED [OMIM:121300] +synonym: "coproporphyria, hereditary" RELATED [MONDO:Lexical] +synonym: "coproporphyrinogen oxidase deficiency" EXACT [DOID:13269, icd11.foundation:1365918274, OMIM:121300] +synonym: "Cpo deficiency" RELATED [] +synonym: "Cpox deficiency" RELATED [] synonym: "CPRO deficiency" RELATED [GARD:0006619] -synonym: "Cpx deficiency" RELATED [OMIM:121300] -synonym: "Harderoporphyria" RELATED [OMIM:121300] -synonym: "HCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121300] -synonym: "hereditary coproporphyria" EXACT [DOID:13269] +synonym: "Cpx deficiency" RELATED [] +synonym: "Harderoporphyria" RELATED [] +synonym: "HCP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hereditary coproporphyria" EXACT [DOID:13269, icd11.foundation:1365918274, NCIT:C84759, Orphanet:79273] synonym: "hereditary coproporphyria porphyria" EXACT [DOID:13269] synonym: "porphyria hepatica coproporphyria" RELATED [GARD:0006619] synonym: "porphyria hepatica II" RELATED [GARD:0006619] @@ -148909,8 +148922,8 @@ id: MONDO:0007372 name: cornea plana 1, autosomal dominant subset: gard_rare {source="GARD:18049", source="MONDO:GARD"} subset: rare -synonym: "CNA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121400] -synonym: "cornea plana 1" RELATED [MONDO:Lexical, OMIM:121400] +synonym: "CNA1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "cornea plana 1" RELATED [MONDO:Lexical] synonym: "cornea plana 1, autosomal dominant" EXACT [OMIM:121400] xref: GARD:18049 {source="MONDO:GARD"} xref: MEDGEN:343837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -148923,7 +148936,7 @@ is_a: MONDO:0000733 {source="MONDO:Redundant", source="OMIM:121400"} ! cornea pl [Term] id: MONDO:0007373 name: corneal degeneration, ribbonlike, with deafness -synonym: "band keratopathy with deafness" RELATED [OMIM:121450] +synonym: "band keratopathy with deafness" RELATED [] synonym: "corneal degeneration, ribbonlike, with deafness" EXACT [OMIM:121450] xref: MEDGEN:377705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565157 {source="MONDO:equivalentTo"} @@ -148942,14 +148955,14 @@ subset: orphanet_rare {source="Orphanet:98967"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "corneal dystrophy crystalline of Schnyder" EXACT [DOID:0060456] -synonym: "corneal dystrophy, crystalline, of Schnyder" RELATED [OMIM:121800] -synonym: "corneal dystrophy, Schnyder" RELATED [OMIM:121800] -synonym: "corneal dystrophy, Schnyder type" EXACT [OMIM:121800, OMIM:genemap2] +synonym: "corneal dystrophy, crystalline, of Schnyder" RELATED [] +synonym: "corneal dystrophy, Schnyder" RELATED [] +synonym: "corneal dystrophy, Schnyder type" EXACT [] synonym: "crystalline stromal dystrophy" EXACT [DOID:0060456, Orphanet:98967] synonym: "hereditary crystalline stromal dystrophy of Schnyder" EXACT [DOID:0060456, Orphanet:98967] synonym: "SCCD" EXACT ABBREVIATION [DOID:0060456, MONDO:Lexical, OMIM:121800, Orphanet:98967] synonym: "SCD" EXACT ABBREVIATION [Orphanet:98967] -synonym: "Schnyder corneal dystrophy" EXACT [MONDO:Lexical, OMIM:121800] +synonym: "Schnyder corneal dystrophy" EXACT [DOID:0060456, MONDO:Lexical, OMIM:121800, Orphanet:98967] synonym: "Schnyder crystalline corneal dystrophy" EXACT [DOID:0060456, OMIM:121800, Orphanet:98967] synonym: "Schnyder crystalline dystrophy sine crystals" EXACT [Orphanet:98967] xref: DOID:0060456 {source="MONDO:equivalentTo"} @@ -148979,11 +148992,11 @@ subset: rare synonym: "anterior basement membrane dystrophy" EXACT [Orphanet:98956] synonym: "Cogan corneal dystrophy" EXACT [DOID:0060447, OMIM:121820] synonym: "Cogan microcystic epithelial dystrophy" EXACT [Orphanet:98956] -synonym: "corneal dystrophy, anterior basement Membrane" RELATED [OMIM:121820] -synonym: "corneal dystrophy, epithelial basement MEMBRANE" RELATED [MONDO:Lexical, OMIM:121820] -synonym: "corneal dystrophy, Map-Dot-Fingerprint type" RELATED [OMIM:121820] -synonym: "corneal dystrophy, microcystic" RELATED [OMIM:121820] -synonym: "EBMD" EXACT ABBREVIATION [DOID:0060447, MONDO:Lexical, OMIM:121820] +synonym: "corneal dystrophy, anterior basement Membrane" RELATED [] +synonym: "corneal dystrophy, epithelial basement MEMBRANE" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy, Map-Dot-Fingerprint type" RELATED [] +synonym: "corneal dystrophy, microcystic" RELATED [] +synonym: "EBMD" EXACT ABBREVIATION [DOID:0060447, MONDO:Lexical, OMIM:121820, Orphanet:98956] synonym: "epithelial basement membrane corneal dystrophy" RELATED [GARD:0009732] synonym: "Map-dot-fingerprint dystrophy" EXACT [Orphanet:98956] synonym: "Map-dot-fingerprint dystrophy of cornea" RELATED [GARD:0009732] @@ -149012,13 +149025,13 @@ subset: ordo_disorder {source="Orphanet:98970"} subset: orphanet_rare {source="Orphanet:98970"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cfd" RELATED [OMIM:121850] -synonym: "corneal dystrophy, FLECK" RELATED [OMIM:121850] -synonym: "corneal dystrophy, Francois-Neetens speckled or flecked" RELATED [OMIM:121850] -synonym: "corneal fleck dystrophy" EXACT [OMIM:121850, OMIM:genemap2] +synonym: "Cfd" RELATED [] +synonym: "corneal dystrophy, FLECK" RELATED [] +synonym: "corneal dystrophy, Francois-Neetens speckled or flecked" RELATED [] +synonym: "corneal fleck dystrophy" EXACT [] synonym: "FCD" EXACT ABBREVIATION [DOID:0060448, Orphanet:98970] -synonym: "fleck corneal dystrophy" EXACT [OMIM:121850] -synonym: "FranC'ois-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970] +synonym: "fleck corneal dystrophy" EXACT [DOID:0060448, icd11.foundation:607143324, OMIM:121850, Orphanet:98970] +synonym: "FranC'ois-Neetens speckled corneal dystrophy" EXACT [] synonym: "Francois-Neetens speckled corneal dystrophy" EXACT [DOID:0060448] synonym: "François-Neetens speckled corneal dystrophy" EXACT [Orphanet:98970] xref: DOID:0060448 {source="MONDO:equivalentTo"} @@ -149046,19 +149059,19 @@ subset: ordo_disorder {source="Orphanet:98962"} subset: orphanet_rare {source="Orphanet:98962"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDGG1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:121900] +synonym: "CDGG1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "classic GCD" EXACT [Orphanet:98962] synonym: "classic granular corneal dystrophy" EXACT [Orphanet:98962] synonym: "corneal dystrophy granular type" RELATED [GARD:0009677] synonym: "corneal dystrophy Groenouw type I" EXACT [Orphanet:98962] synonym: "corneal dystrophy punctate or nodular" RELATED [GARD:0009677] -synonym: "corneal dystrophy, Groenouw type 1" RELATED [OMIM:121900] -synonym: "corneal dystrophy, Groenouw type I" RELATED [MONDO:Lexical, OMIM:121900] -synonym: "corneal dystrophy, punctate or nodular" RELATED [OMIM:121900] +synonym: "corneal dystrophy, Groenouw type 1" RELATED [] +synonym: "corneal dystrophy, Groenouw type I" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy, punctate or nodular" RELATED [] synonym: "GCD1" EXACT ABBREVIATION [Orphanet:98962] synonym: "GCDI" EXACT ABBREVIATION [Orphanet:98962] synonym: "granular corneal dystrophy type 1" EXACT [Orphanet:98962] -synonym: "granular corneal dystrophy, type 1" RELATED [OMIM:121900] +synonym: "granular corneal dystrophy, type 1" RELATED [] synonym: "Groenouw type I corneal dystrophy" RELATED [GARD:0009677] xref: DOID:0080530 {source="MONDO:equivalentTo"} xref: GARD:9677 {source="MONDO:GARD"} @@ -149079,17 +149092,18 @@ def: "A posterior polymorphous corneal dystrophy that has material basis in auto subset: gard_rare {source="GARD:18212", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Ched1" EXACT [DOID:0110855] -synonym: "corneal dystrophy, hereditary polymorphous posterior" RELATED [OMIM:122000] -synonym: "corneal dystrophy, POSTERIOR polymorphous, 1" RELATED [MONDO:Lexical, OMIM:122000] -synonym: "corneal dystrophy, posterior polymorphous, type 1" EXACT [MONDORULE:1, OMIM:122000] -synonym: "corneal endothelial dystrophy 1, autosomal dominant" EXACT [DOID:0110855, OMIM:122000] -synonym: "corneal endothelial dystrophy 1, autosomal dominant, formerly" RELATED [OMIM:122000] -synonym: "Maumenee corneal dystrophy" EXACT [DOID:0110855, https://orcid.org/0000-0002-0736-9199] -synonym: "posterior polymorphous corneal dystrophy" RELATED [OMIM:122000] -synonym: "posterior polymorphous corneal dystrophy type 1" EXACT [DOID:0110855, MONDORULE:1] -synonym: "PPCD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:122000] -synonym: "Ppcd1" EXACT [DOID:0110855] +synonym: "CHED1" EXACT ABBREVIATION [DOID:0110855] +synonym: "Ched1" EXACT [] +synonym: "corneal dystrophy, hereditary polymorphous posterior" RELATED [] +synonym: "corneal dystrophy, POSTERIOR polymorphous, 1" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy, posterior polymorphous, type 1" EXACT [MONDORULE:1] +synonym: "corneal endothelial dystrophy 1, autosomal dominant" EXACT [DOID:0110855] +synonym: "corneal endothelial dystrophy 1, autosomal dominant, formerly" RELATED [] +synonym: "Maumenee corneal dystrophy" EXACT [DOID:0110855, https://orcid.org/0000-0002-0736-9199, OMIM:122000] +synonym: "posterior polymorphous corneal dystrophy" RELATED [] +synonym: "posterior polymorphous corneal dystrophy type 1" EXACT [MONDORULE:1] +synonym: "PPCD1" EXACT ABBREVIATION [DOID:0110855, OMIM:122000] +synonym: "Ppcd1" EXACT [] xref: DOID:0110855 {source="MONDO:equivalentTo"} xref: GARD:18212 {source="MONDO:GARD"} xref: ICD10CM:H18.50 {source="DOID:0110855"} @@ -149116,15 +149130,15 @@ subset: orphanet_rare {source="Orphanet:98954"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "corneal dystrophy, juvenile epithelial of Meesmann" RELATED [GARD:0009688] -synonym: "corneal dystrophy, juvenile epithelial, of Meesmann" RELATED [OMIM:122100] -synonym: "corneal dystrophy, Meesmann" RELATED [MONDO:Lexical, OMIM:122100] -synonym: "corneal dystrophy, Meesmann epithelial" RELATED [OMIM:122100] +synonym: "corneal dystrophy, juvenile epithelial, of Meesmann" RELATED [] +synonym: "corneal dystrophy, Meesmann" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy, Meesmann epithelial" RELATED [] synonym: "juvenile epithelial of Meesmann corneal dystrophy" EXACT [NCIT:C84795] synonym: "juvenile hereditary epithelial dystrophy" EXACT [DOID:0060451] synonym: "juvenile hereditary epithelial dystrophy of Meesmann" EXACT [Orphanet:98954] -synonym: "MECD" EXACT ABBREVIATION [DOID:0060451, MONDO:Lexical, OMIM:122100, Orphanet:98954] +synonym: "MECD" EXACT ABBREVIATION [DOID:0060451, MONDO:Lexical, Orphanet:98954] synonym: "Meesman dystrophy" RELATED [GARD:0009688] -synonym: "Meesmann corneal dystrophy" EXACT [OMIM:122100] +synonym: "Meesmann corneal dystrophy" EXACT [DOID:0060451, NCIT:C84795, Orphanet:98954] synonym: "Meesmann corneal epithelial dystrophy" RELATED [GARD:0009688] synonym: "stocker-Holt dystrophy" EXACT [DOID:0060451] xref: DOID:0060451 {source="MONDO:equivalentTo"} @@ -149156,14 +149170,15 @@ subset: orphanet_rare {source="Orphanet:98964"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Biber-Haab-Dimmer dystrophy" EXACT [Orphanet:98964] -synonym: "CDL1" RELATED ABBREVIATION [OMIM:122200] +synonym: "CDL1" RELATED ABBREVIATION [] synonym: "classic lattice corneal dystrophy" EXACT [Orphanet:98964] -synonym: "corneal dystrophy, lattice type 1" RELATED [GARD:0009678, OMIM:122200] -synonym: "corneal dystrophy, lattice type I" RELATED [MONDO:Lexical, OMIM:122200] +synonym: "corneal dystrophy, lattice type 1" RELATED [GARD:0009678] +synonym: "corneal dystrophy, lattice type I" RELATED [MONDO:Lexical] synonym: "lattice corneal dystrophy type 1" EXACT [Orphanet:98964] -synonym: "lattice corneal dystrophy, type 1" RELATED [OMIM:122200] -synonym: "LCD" RELATED ABBREVIATION [OMIM:122200] -synonym: "Lcd1" EXACT [MONDO:Lexical, OMIM:122200, Orphanet:98964] +synonym: "lattice corneal dystrophy, type 1" RELATED [] +synonym: "LCD" RELATED ABBREVIATION [] +synonym: "LCD1" EXACT ABBREVIATION [Orphanet:98964] +synonym: "Lcd1" EXACT [MONDO:Lexical] synonym: "LCDI" EXACT ABBREVIATION [Orphanet:98964] xref: GARD:9678 {source="MONDO:GARD"} xref: ICD10CM:H18.5 {source="Orphanet:98964/attributed", source="Orphanet:98964/ntbt", source="Orphanet:98964"} @@ -149187,12 +149202,12 @@ subset: ordo_disorder {source="Orphanet:293381"} subset: orphanet_rare {source="Orphanet:293381"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "corneal erosions, recurring hereditary" RELATED [OMIM:122400] -synonym: "dystrophia Helsinglandica" EXACT [Orphanet:293381] -synonym: "dystrophia Smolandiensis" EXACT [Orphanet:293381] -synonym: "epithelial recurrent erosion dystrophy" EXACT [MONDO:Lexical, OMIM:122400] -synonym: "ERED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122400, Orphanet:293381] -synonym: "recurrent hereditary corneal erosions" EXACT [Orphanet:293381] +synonym: "corneal erosions, recurring hereditary" RELATED [] +synonym: "dystrophia Helsinglandica" EXACT [icd11.foundation:1105690299, Orphanet:293381] +synonym: "dystrophia Smolandiensis" EXACT [icd11.foundation:1105690299, Orphanet:293381] +synonym: "epithelial recurrent erosion dystrophy" EXACT [DOID:0070337, icd11.foundation:1105690299, MONDO:Lexical, OMIM:122400, Orphanet:293381] +synonym: "ERED" EXACT ABBREVIATION [DOID:0070337, MONDO:Lexical, OMIM:122400, Orphanet:293381] +synonym: "recurrent hereditary corneal erosions" EXACT [icd11.foundation:1105690299, Orphanet:293381] xref: DOID:0070337 {source="MONDO:equivalentTo"} xref: GARD:17338 {source="MONDO:GARD"} xref: ICD10CM:H18.5 {source="Orphanet:293381/attributed", source="Orphanet:293381/ntbt", source="Orphanet:293381"} @@ -149222,10 +149237,10 @@ synonym: "congenital corneal anaesthesia with retinal abnormalities, deafness, u synonym: "congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED [GARD:0004636] synonym: "congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED DEPRECATED [GARD:0004636] synonym: "corneal anesthesia-deafness-intellectual disability syndrome" EXACT [Orphanet:1051] -synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED [OMIM:122430] -synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED DEPRECATED [OMIM:122430] +synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability" RELATED [] +synonym: "corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation" RELATED DEPRECATED [] synonym: "Ramos Arroyo Clark syndrome" RELATED [GARD:0004636] -synonym: "Ramos-Arroyo syndrome" EXACT [OMIM:122430] +synonym: "Ramos-Arroyo syndrome" EXACT [OMIM:122430, Orphanet:1051] xref: GARD:4636 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1051/attributed", source="Orphanet:1051/ntbt", source="Orphanet:1051"} xref: MEDGEN:418932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -149247,11 +149262,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:3194"} subset: orphanet_rare {source="Orphanet:3194"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cdo syndrome" RELATED [OMIM:122440] +synonym: "Cdo syndrome" RELATED [] synonym: "corneal dystrophy epithelial and short stature" RELATED [GARD:0001531] -synonym: "corneal dystrophy, epithelial, with skin and skeletal changes" RELATED [OMIM:122440] -synonym: "corneo-dermato-osseous syndrome" EXACT [Orphanet:3194] -synonym: "CORNEODERMATOOSSEOUS syndrome" RELATED [OMIM:122440] +synonym: "corneal dystrophy, epithelial, with skin and skeletal changes" RELATED [] +synonym: "corneo-dermato-osseous syndrome" EXACT [] +synonym: "CORNEODERMATOOSSEOUS syndrome" RELATED [] synonym: "Stern Lubinsky Durrie syndrome" RELATED [GARD:0001531] xref: GARD:1531 {source="MONDO:GARD"} xref: ICD10CM:H18.5 {source="Orphanet:3194", source="Orphanet:3194/attributed", source="Orphanet:3194/ntbt"} @@ -149278,10 +149293,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:231013"} subset: orphanet_rare {source="Orphanet:231013"} subset: rare -synonym: "corneal hypesthesia, familial" RELATED [OMIM:122450] +synonym: "corneal hypesthesia, familial" RELATED [] synonym: "familial trigeminal anaesthesia" RELATED OMO:0003005 [] synonym: "familial trigeminal anesthesia" RELATED [GARD:0010034] -synonym: "trigeminal anesthesia, familial" RELATED [OMIM:122450] +synonym: "trigeminal anesthesia, familial" RELATED [] xref: GARD:10034 {source="MONDO:GARD"} xref: ICD10CM:G50.8 {source="Orphanet:231013/attributed", source="Orphanet:231013/ntbt", source="Orphanet:231013"} xref: MEDGEN:342259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -149302,7 +149317,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:458718"} subset: orphanet_rare {source="Orphanet:458718"} subset: rare -synonym: "coronary artery dissection, spontaneous" RELATED [OMIM:122455] +synonym: "coronary artery dissection, spontaneous" RELATED [] synonym: "idiopathic SCAD" EXACT [Orphanet:458718] xref: GARD:10822 {source="MONDO:GARD"} xref: ICD10CM:I25.4 {source="Orphanet:458718", source="Orphanet:458718/ntbt"} @@ -149319,9 +149334,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007386 name: obsolete human coronavirus sensitivity -synonym: "Coronavirus 229E susceptibility" RELATED [OMIM:122460] -synonym: "HCVS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122460] -synonym: "human coronavirus sensitivity" RELATED [MONDO:Lexical, OMIM:122460] +synonym: "Coronavirus 229E susceptibility" RELATED [] +synonym: "HCVS" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "human coronavirus sensitivity" RELATED [MONDO:Lexical] xref: OMIM:122460 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -149332,16 +149347,16 @@ def: "Any Cornelia de Lange syndrome in which the cause of the disease is a muta subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Brachmann-De Lange syndrome" RELATED [OMIM:122470] -synonym: "Cdl" RELATED [OMIM:122470] -synonym: "CDLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:122470] -synonym: "Cornelia DE Lange syndrome 1" RELATED [OMIM:122470] -synonym: "Cornelia de Lange syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:122470] +synonym: "Brachmann-De Lange syndrome" RELATED [] +synonym: "Cdl" RELATED [] +synonym: "CDLS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Cornelia DE Lange syndrome 1" RELATED [] +synonym: "Cornelia de Lange syndrome 1" EXACT CLINGEN_LABEL [DOID:0080505, MONDO:Lexical] synonym: "Cornelia de Lange syndrome caused by mutation in NIPBL" EXACT [MONDO:design_pattern] -synonym: "Cornelia De Lange syndrome type 1" EXACT [MONDORULE:1, OMIM:122470] -synonym: "De Lange syndrome" RELATED [OMIM:122470] +synonym: "Cornelia De Lange syndrome type 1" EXACT [MONDORULE:1] +synonym: "De Lange syndrome" RELATED [] synonym: "NIPBL Cornelia de Lange syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "typus Degenerativus Amstelodamensis" RELATED [OMIM:122470] +synonym: "typus Degenerativus Amstelodamensis" RELATED [] xref: DOID:0080505 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:1645760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -149368,7 +149383,7 @@ subset: orphanet_rare {source="Orphanet:2391"} subset: rare synonym: "congenital shortness of the costocoracoid ligament" RELATED [GARD:0001551] synonym: "costocoracoid ligament congenitally short" RELATED [GARD:0001551] -synonym: "costocoracoid ligament, congenitally short" RELATED [OMIM:122580] +synonym: "costocoracoid ligament, congenitally short" RELATED [] synonym: "fixation of the scapula to the first rib by a congenitally short costocoracoid ligament" RELATED [GARD:0001551] xref: GARD:1551 {source="MONDO:GARD"} xref: ICD10CM:Q68.8 {source="Orphanet:2391", source="Orphanet:2391/ntbt"} @@ -149390,13 +149405,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="NORD:1915", source="MONDO:NORD"} subset: rare synonym: "costovertebral segmentation anomalies" EXACT [OMIM:122600] -synonym: "polydysspondyly" RELATED [OMIM:122600] -synonym: "SCDO5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122600] +synonym: "polydysspondyly" RELATED [] +synonym: "SCDO5" EXACT ABBREVIATION [DOID:0112363, MONDO:Lexical, OMIM:122600] synonym: "scoliosis, congenital, with or without rib anomalies" EXACT [OMIM:122600] -synonym: "spondylocostal dysostosis 5" EXACT [MONDO:Lexical, OMIM:122600] +synonym: "spondylocostal dysostosis 5" EXACT [DOID:0112363, MONDO:Lexical, OMIM:122600] synonym: "spondylocostal dysostosis caused by mutation in TBX6" EXACT [MONDO:design_pattern] -synonym: "spondylocostal dysostosis type 5" EXACT [MONDORULE:1, OMIM:122600] -synonym: "spondylocostal dysplasia" RELATED [OMIM:122600] +synonym: "spondylocostal dysostosis type 5" EXACT [MONDORULE:1] +synonym: "spondylocostal dysplasia" RELATED [] synonym: "spondylothoracic dysostosis" EXACT DEPRECATED [https://rarediseases.org/rare-diseases/jarcho-levin-syndrome/, OMIM:122600] synonym: "Spondylothoracic Dysplasia" RELATED [NORD:1915] synonym: "TBX6 spondylocostal dysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -149416,10 +149431,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007390 name: coumarin resistance synonym: "coumarin resistance" EXACT [OMIM:122700] -synonym: "coumarin sensitivity" RELATED [OMIM:122700] -synonym: "coumarin, poor metabolism of" RELATED [OMIM:122700] -synonym: "warfarin resistance" RELATED [OMIM:122700] -synonym: "warfarin sensitivity" RELATED [OMIM:122700] +synonym: "coumarin sensitivity" RELATED [] +synonym: "coumarin, poor metabolism of" RELATED [] +synonym: "warfarin resistance" RELATED [] +synonym: "warfarin sensitivity" RELATED [] xref: DOID:0080665 {source="MONDO:equivalentTo"} xref: MEDGEN:148193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563039 {source="MONDO:equivalentTo"} @@ -149455,7 +149470,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1508"} subset: orphanet_rare {source="Orphanet:1508"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "coxoauricular syndrome" EXACT [OMIM:122780] +synonym: "coxoauricular syndrome" EXACT [icd11.foundation:649449912, OMIM:122780, Orphanet:1508] xref: GARD:1558 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:1508/attributed", source="Orphanet:1508/ntbt", source="Orphanet:1508"} xref: icd11.foundation:649449912 {source="MONDO:equivalentTo"} @@ -149497,11 +149512,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1529"} subset: orphanet_rare {source="Orphanet:1529"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:122880, Orphanet:1529] +synonym: "CDHS" EXACT ABBREVIATION [DOID:0111336, MONDO:Lexical, OMIM:122880, Orphanet:1529] synonym: "craniofacial deafness hand syndrome" RELATED [GARD:0001571] -synonym: "craniofacial-deafness-hand syndrome" EXACT [MONDO:Lexical, OMIM:122880] +synonym: "craniofacial-deafness-hand syndrome" EXACT [DOID:0111336, icd11.foundation:1355682887, MONDO:Lexical, OMIM:122880, Orphanet:1529] synonym: "features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss" RELATED [GARD:0001571] -synonym: "Sommer-Young-Wee-Frye syndrome" EXACT [Orphanet:1529] +synonym: "Sommer-Young-Wee-Frye syndrome" EXACT [DOID:0111336, Orphanet:1529] xref: DOID:0111336 {source="MONDO:equivalentTo"} xref: GARD:1571 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:1529/attributed", source="Orphanet:1529/ntbt", source="Orphanet:1529"} @@ -149529,10 +149544,10 @@ subset: orphanet_rare {source="Orphanet:1798"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant osteosclerosis, Stanescu type" EXACT [Orphanet:1798] -synonym: "craniofacial dysostosis with diaphyseal hyperplasia" RELATED [OMIM:122900] +synonym: "craniofacial dysostosis with diaphyseal hyperplasia" RELATED [] synonym: "craniofacial dysostosis-diaphyseal hyperplasia syndrome" EXACT [Orphanet:1798] synonym: "dysostosis Stanescu type" RELATED [GARD:0002016] -synonym: "osteosclerosis, Stanescu type" RELATED [OMIM:122900] +synonym: "osteosclerosis, Stanescu type" RELATED [] synonym: "Stanescu osteosclerosis" EXACT [Orphanet:1798] xref: GARD:2016 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:1798", source="Orphanet:1798/attributed", source="Orphanet:1798/ntbt"} @@ -149552,12 +149567,12 @@ name: craniometaphyseal dysplasia, autosomal dominant subset: gard_rare {source="GARD:1581", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMD" RELATED ABBREVIATION [OMIM:123000] -synonym: "CMDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123000] +synonym: "CMD" RELATED ABBREVIATION [] +synonym: "CMDD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CMDJ" RELATED ABBREVIATION [GARD:0001581] synonym: "craniometaphyseal dysplasia Jackson type" RELATED [GARD:0001581] synonym: "craniometaphyseal dysplasia, autosomal dominant" EXACT [MONDO:Lexical, OMIM:123000] -synonym: "craniometaphyseal dysplasia, Jackson type" RELATED [OMIM:123000] +synonym: "craniometaphyseal dysplasia, Jackson type" RELATED [] xref: DOID:0080801 {source="MONDO:equivalentTo"} xref: GARD:1581 {source="MONDO:GARD"} xref: MEDGEN:338945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -149577,7 +149592,7 @@ subset: ordo_disorder {source="Orphanet:157832"} subset: ordo_malformation_syndrome {source="Orphanet:157832"} subset: orphanet_rare {source="Orphanet:157832"} subset: rare -synonym: "craniorhiny" EXACT [OMIM:123050] +synonym: "craniorhiny" EXACT [icd11.foundation:853619848, OMIM:123050, Orphanet:157832] xref: GARD:16984 {source="MONDO:GARD"} xref: ICD10CM:Q30.8 {source="Orphanet:157832", source="Orphanet:157832/ntbt"} xref: icd11.foundation:853619848 {source="MONDO:equivalentTo"} @@ -149597,11 +149612,11 @@ subset: gard_rare {source="GARD:18045", source="MONDO:GARD"} subset: nord_rare {source="NORD:1606", source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "craniostenosis" RELATED [OMIM:123100] +synonym: "craniostenosis" RELATED [] synonym: "craniosynostosis 1" EXACT [MONDO:Lexical, OMIM:123100] -synonym: "craniosynostosis type 1" EXACT [MONDORULE:1, OMIM:123100] -synonym: "CRS" RELATED ABBREVIATION [OMIM:123100] -synonym: "CRS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123100] +synonym: "craniosynostosis type 1" EXACT [MONDORULE:1] +synonym: "CRS" RELATED ABBREVIATION [] +synonym: "CRS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Primary Craniosynostosis" EXACT [NORD:1606] synonym: "TWIST1-related craniosynostosis" EXACT CLINGEN_LABEL [] xref: GARD:18045 {source="MONDO:GARD"} @@ -149630,10 +149645,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:1540"} subset: orphanet_rare {source="Orphanet:1540"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "craniosynostosis, midfacial hypoplasia, and foot abnormalities" RELATED [OMIM:123150] -synonym: "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" EXACT [Orphanet:1540] -synonym: "Jackson-Weiss syndrome" EXACT [MONDO:Lexical, OMIM:123150] -synonym: "JWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:123150, Orphanet:1540] +synonym: "craniosynostosis, midfacial hypoplasia, and foot abnormalities" RELATED [] +synonym: "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" EXACT [DOID:0111337, Orphanet:1540] +synonym: "Jackson-Weiss syndrome" EXACT [DOID:0111337, MONDO:Lexical, NCIT:C123814, OMIM:123150, Orphanet:1540] +synonym: "JWS" EXACT ABBREVIATION [DOID:0111337, MONDO:Lexical, OMIM:123150, Orphanet:1540] xref: DOID:0111337 {source="MONDO:equivalentTo"} xref: GARD:6796 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1540/attributed", source="Orphanet:1540/ntbt", source="Orphanet:1540"} @@ -149663,10 +149678,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Braddock Jones Superneau syndrome" RELATED [GARD:0000998] synonym: "Braddock-Jones-Superneau syndrome" EXACT [GARD:0001592, Orphanet:1538] -synonym: "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" EXACT [GARD:0001592] +synonym: "craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome" EXACT [GARD:0001592, Orphanet:1538] synonym: "Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus" RELATED [GARD:0001592] -synonym: "HDCPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123155] -synonym: "hydrocephalus, autosomal dominant" RELATED [MONDO:Lexical, OMIM:123155] +synonym: "HDCPH1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hydrocephalus, autosomal dominant" RELATED [MONDO:Lexical] synonym: "sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus" RELATED [GARD:0001592] xref: GARD:998 {source="MONDO:GARD"} xref: ICD10CM:Q03.1 {source="Orphanet:1538", source="Orphanet:1538/attributed", source="Orphanet:1538/ntbt"} @@ -149686,9 +149701,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1592/dandy-w [Term] id: MONDO:0007402 name: creatine phosphokinase, elevated serum -synonym: "CPK, elevated serum" RELATED [OMIM:123320] +synonym: "CPK, elevated serum" RELATED [] synonym: "creatine phosphokinase, elevated serum" EXACT [OMIM:123320] -synonym: "hyperCKemia, idiopathic" RELATED [OMIM:123320] +synonym: "hyperCKemia, idiopathic" RELATED [] xref: MEDGEN:69128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:123320 {source="MONDO:equivalentTo"} xref: UMLS:C0241005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:69128"} @@ -149705,13 +149720,13 @@ subset: ordo_disorder {source="Orphanet:282166"} subset: orphanet_rare {source="Orphanet:282166"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CJD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123400] -synonym: "Creutzfeldt-Jakob disease" RELATED [MONDO:Lexical, OMIM:123400] -synonym: "Creutzfeldt-Jakob disease, familial" RELATED [OMIM:123400] -synonym: "Creutzfeldt-Jakob disease, Heidenhain variant" RELATED [OMIM:123400] -synonym: "Creutzfeldt-Jakob disease, sporadic" RELATED [OMIM:123400] -synonym: "Creutzfeldt-Jakob disease, variant" RELATED [OMIM:123400] -synonym: "Creutzfeldt-Jakob disease, variant, resistance to" EXACT [OMIM:123400, OMIM:genemap2] +synonym: "CJD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Creutzfeldt-Jakob disease" RELATED [MONDO:Lexical] +synonym: "Creutzfeldt-Jakob disease, familial" RELATED [] +synonym: "Creutzfeldt-Jakob disease, Heidenhain variant" RELATED [] +synonym: "Creutzfeldt-Jakob disease, sporadic" RELATED [] +synonym: "Creutzfeldt-Jakob disease, variant" RELATED [] +synonym: "Creutzfeldt-Jakob disease, variant, resistance to" EXACT [] synonym: "hereditary Creutzfeldt Jacob disease" EXACT [MONDO:patterns/hereditary] synonym: "inherited CJD" EXACT [Orphanet:282166] xref: GARD:17307 {source="MONDO:GARD"} @@ -149749,20 +149764,20 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "5p deletion syndrome" EXACT [DOID:12580, NCIT:C34518] synonym: "5p minus syndrome" RELATED [GARD:0006213] -synonym: "5p partial monosomy syndrome" EXACT [NCIT:C34518] +synonym: "5p partial monosomy syndrome" EXACT [DOID:12580, NCIT:C34518] synonym: "5p- syndrome" RELATED [GARD:0006213] -synonym: "Cat Cry syndrome" RELATED [OMIM:123450] +synonym: "Cat Cry syndrome" RELATED [] synonym: "Cat-Cry syndrome" EXACT [NCIT:C34518] synonym: "chromosome 5 short arm deletion syndrome" EXACT [DOID:12580] -synonym: "chromosome 5P deletion syndrome" RELATED [OMIM:123450] -synonym: "chromosome 5p deletion syndrome" EXACT [DOID:12580] +synonym: "chromosome 5P deletion syndrome" RELATED [] +synonym: "chromosome 5p deletion syndrome" EXACT [DOID:12580, OMIM:123450] synonym: "chromosome 5p- syndrome" RELATED [GARD:0006213] -synonym: "Cri du Chat Syndrome" EXACT [NORD:1015] -synonym: "Cri du chat syndrome" EXACT [Orphanet:281] -synonym: "Cri-du-chat syndrome" EXACT [DOID:12580, ICD9CM:758.31, OMIM:123450] +synonym: "Cri du Chat Syndrome" EXACT [NCIT:C34518, NORD:1015, Orphanet:281] +synonym: "Cri du chat syndrome" EXACT [NCIT:C34518, Orphanet:281] +synonym: "Cri-du-chat syndrome" EXACT [DOID:12580, icd11.foundation:620584190, ICD9CM:758.31, NCIT:C34518, OMIM:123450] synonym: "deletion 5p" EXACT [Orphanet:281] -synonym: "monosomy 5p" RELATED [Orphanet:281] -synonym: "monosomy type 5p" EXACT [MONDORULE:4, Orphanet:281] +synonym: "monosomy 5p" RELATED [] +synonym: "monosomy type 5p" EXACT [MONDORULE:4] xref: DECIPHER:2 {source="MONDO:equivalentTo"} xref: DOID:12580 {source="MONDO:equivalentTo"} xref: GARD:6213 {source="MONDO:GARD"} @@ -149802,12 +149817,12 @@ subset: orphanet_rare {source="Orphanet:207"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cfd1" RELATED [GARD:0006206] -synonym: "craniofacial dysostosis" EXACT [DOID:2339] +synonym: "craniofacial dysostosis" EXACT [DOID:2339, NCIT:C84653] synonym: "craniofacial dysostosis type 1" RELATED [GARD:0006206] -synonym: "craniofacial dysostosis, type 1" RELATED [OMIM:123500] +synonym: "craniofacial dysostosis, type 1" RELATED [] synonym: "Crouzon craniofacial dysostosis" EXACT [OMIM:123500, Orphanet:207] synonym: "Crouzon disease" RELATED [GARD:0006206] -synonym: "Crouzon syndrome" EXACT [OMIM:123500] +synonym: "Crouzon syndrome" EXACT [DOID:2339, NCIT:C84653, OMIM:123500, Orphanet:207] synonym: "Crouzon's disease" RELATED [DOID:2339] xref: DOID:2339 {source="MONDO:equivalentTo"} xref: GARD:6206 {source="MONDO:GARD"} @@ -149852,13 +149867,13 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1452"} subset: ordo_disorder {source="Orphanet:91138"} subset: orphanet_rare {source="Orphanet:91138"} subset: rare -synonym: "cryoglobulinemia, familial mixed" RELATED [OMIM:123550] +synonym: "cryoglobulinemia, familial mixed" RELATED [] synonym: "essential cryoglobulinemia" EXACT [Orphanet:91138] synonym: "essential mixed cryoglobulinemia" EXACT [Orphanet:91138] synonym: "familial mixed cryoglobulinemia" RELATED [GARD:0006386] -synonym: "MC" EXACT ABBREVIATION [Orphanet:91138] -synonym: "Meltzer syndrome" RELATED [OMIM:123550] -synonym: "Mixed Cryoglobulinemia" EXACT [NORD:1452] +synonym: "MC" EXACT ABBREVIATION [] +synonym: "Meltzer syndrome" RELATED [] +synonym: "Mixed Cryoglobulinemia" EXACT [NORD:1452, Orphanet:91138] synonym: "mixed cryoglobulinemia" EXACT [Orphanet:91138] synonym: "primary cryoglobulinemia" EXACT [Orphanet:91138] xref: GARD:6386 {source="MONDO:GARD"} @@ -149899,8 +149914,8 @@ subset: rare synonym: "bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch" RELATED [GARD:0008174] synonym: "Cryptomicrotia brachydactyly syndrome" RELATED [GARD:0008174] synonym: "Cryptomicrotia brachydactyly syndrome excess fingertip arch" RELATED [GARD:0008174] -synonym: "CRYPTOMICROTIA-brachydactyly syndrome" RELATED [OMIM:123560] -synonym: "Cryptomicrotia-brachydactyly syndrome" EXACT [Orphanet:1547] +synonym: "CRYPTOMICROTIA-brachydactyly syndrome" RELATED [] +synonym: "Cryptomicrotia-brachydactyly syndrome" EXACT [OMIM:123560, Orphanet:1547] synonym: "Tonoki Ohura Niikawa syndrome" RELATED [GARD:0008174] synonym: "Tonoki-Ohura-Niikawa syndrome" EXACT [Orphanet:1547] xref: GARD:8174 {source="MONDO:GARD"} @@ -149925,9 +149940,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:91396"} subset: orphanet_rare {source="Orphanet:91396"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ankyloblepharon, simple" RELATED [OMIM:123570] -synonym: "cryptophthalmos with microphthalmia and Peters anomaly" RELATED [OMIM:123570] -synonym: "cryptophthalmos, unilateral or bilateral, isolated" RELATED [OMIM:123570] +synonym: "ankyloblepharon, simple" RELATED [] +synonym: "cryptophthalmos with microphthalmia and Peters anomaly" RELATED [] +synonym: "cryptophthalmos, unilateral or bilateral, isolated" RELATED [] synonym: "nonsyndromic cryptophthalmia" EXACT [MONDO:patterns/isolated] xref: DOID:0111717 {source="MONDO:equivalentTo"} xref: GARD:16797 {source="MONDO:GARD"} @@ -149951,11 +149966,11 @@ subset: gard_rare {source="GARD:15055", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADCL1" EXACT ABBREVIATION [DOID:0070130, MONDO:Lexical, OMIM:123700] -synonym: "autosomal dominant cutis laxa 1" RELATED [DOID:0070130] +synonym: "autosomal dominant cutis laxa 1" RELATED [] synonym: "autosomal dominant cutis laxa caused by mutation in ELN" EXACT [MONDO:design_pattern] -synonym: "cutis laxa, autosomal dominant" BROAD [OMIM:123700, OMIM:genemap2] +synonym: "cutis laxa, autosomal dominant" BROAD [] synonym: "cutis laxa, autosomal dominant 1" EXACT [MONDO:Lexical, OMIM:123700] -synonym: "cutis laxa, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:123700] +synonym: "cutis laxa, autosomal dominant type 1" EXACT [MONDORULE:1] synonym: "ELN autosomal dominant cutis laxa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070130 {source="MONDO:equivalentTo"} xref: GARD:15055 {source="MONDO:GARD"} @@ -149985,11 +150000,11 @@ subset: orphanet_rare {source="Orphanet:1555"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Beare Stevenson syndrome" RELATED [GARD:0000332] -synonym: "Beare-Stevenson cutis gyrata syndrome" EXACT [MONDO:Lexical, OMIM:123790, Orphanet:1555] -synonym: "Beare-Stevenson syndrome" RELATED [OMIM:123790] -synonym: "BSTVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:123790] +synonym: "Beare-Stevenson cutis gyrata syndrome" EXACT [DOID:0050660, icd11.foundation:947865461, MONDO:Lexical, NCIT:C123813, OMIM:123790, Orphanet:1555] +synonym: "Beare-Stevenson syndrome" RELATED [] +synonym: "BSTVS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "cutis gyrata - acanthosis nigricans - craniosynostosis" RELATED [GARD:0000332] -synonym: "cutis gyrata syndrome of Beare and Stevenson" RELATED [OMIM:123790] +synonym: "cutis gyrata syndrome of Beare and Stevenson" RELATED [] synonym: "cutis gyrata-acanthosis nigricans-craniosynostosis syndrome" RELATED [GARD:0000332] xref: DOID:0050660 {source="MONDO:equivalentTo"} xref: GARD:332 {source="MONDO:GARD"} @@ -150027,7 +150042,7 @@ subset: ordo_disorder {source="Orphanet:2674"} subset: ordo_malformation_syndrome {source="Orphanet:2674"} subset: orphanet_rare {source="Orphanet:2674"} subset: rare -synonym: "CYPRUS facial neuromusculoskeletal syndrome" RELATED [OMIM:123853] +synonym: "CYPRUS facial neuromusculoskeletal syndrome" RELATED [] synonym: "unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects" RELATED [GARD:0009487] xref: GARD:9487 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2674", source="Orphanet:2674/attributed", source="Orphanet:2674/ntbt"} @@ -150054,13 +150069,13 @@ subset: orphanet_rare {source="Orphanet:73"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cystic angiomatosis of bone diffuse" RELATED [GARD:0006542] -synonym: "cystic angiomatosis of bone, diffuse" RELATED [OMIM:123880] +synonym: "cystic angiomatosis of bone, diffuse" RELATED [] synonym: "Gorham disease" EXACT [Orphanet:73] synonym: "Gorham syndrome" EXACT [Orphanet:73] -synonym: "Gorham-Stout disease" EXACT [OMIM:123880] +synonym: "Gorham-Stout disease" EXACT [icd11.foundation:1318015458, OMIM:123880, Orphanet:73] synonym: "idiopathic massive osteolysis" EXACT [Orphanet:73] synonym: "osteolysis massive" RELATED [GARD:0006542] -synonym: "osteolysis, massive" RELATED [OMIM:123880] +synonym: "osteolysis, massive" RELATED [] synonym: "progressive massive osteolysis" EXACT [Orphanet:73] synonym: "vanishing bone disease" EXACT [Orphanet:73] xref: GARD:6542 {source="MONDO:GARD"} @@ -150091,11 +150106,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BCS1L mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Complex 3 mitochondrial respiratory chain deficiency" RELATED [GARD:0008295] -synonym: "MC3DN1" RELATED ABBREVIATION [MESH:C565128, MONDO:Lexical, OMIM:124000] -synonym: "mitochondrial Complex 3 deficiency, nuclear type 1" RELATED [OMIM:124000] +synonym: "MC3DN1" RELATED ABBREVIATION [MESH:C565128, MONDO:Lexical] +synonym: "mitochondrial Complex 3 deficiency, nuclear type 1" RELATED [] synonym: "mitochondrial complex III deficiency" RELATED [GARD:0008295] synonym: "mitochondrial complex III deficiency caused by mutation in BCS1L" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex III deficiency, nuclear type 1" RELATED [MESH:C565128, MONDO:Lexical, OMIM:124000] +synonym: "mitochondrial complex III deficiency, nuclear type 1" RELATED [MESH:C565128, MONDO:Lexical] xref: DOID:0080111 {source="MONDO:equivalentTo"} xref: GARD:15056 {source="MONDO:GARD"} xref: MEDGEN:762097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -150120,13 +150135,13 @@ def: "A chronic tubulointerstitial nephropathy that affects people in certain ru subset: otar {source="MONDO:OTAR"} synonym: "AAN" RELATED ABBREVIATION [GARD:0008576] synonym: "aristolochic acid nephropathy" EXACT [NCIT:C123025] -synonym: "Balkan endemic nephropathy" EXACT [DOID:3052, OMIM:124100] +synonym: "Balkan endemic nephropathy" EXACT [DOID:3052, ICD10CM:N15.0, icd11.foundation:18497836, NCIT:C123025, OMIM:124100] synonym: "BEN" RELATED ABBREVIATION [GARD:0008576] synonym: "Chinese herb endemic nephropathy" EXACT [NCIT:C123025] synonym: "Danubian endemic familial nephropathy" EXACT [DOID:3052, OMIM:124100] -synonym: "DEFN" RELATED ABBREVIATION [DOID:3052, OMIM:124100] +synonym: "DEFN" RELATED ABBREVIATION [] synonym: "endemic nephropathy" EXACT [NCIT:C123025] -synonym: "nephropathia epidemica" RELATED [OMIM:124100] +synonym: "nephropathia epidemica" RELATED [] xref: DOID:3052 {source="MONDO:equivalentTo", source="EFO:0007164"} xref: EFO:0007164 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:N15.0 {source="MONDO:equivalentTo", source="DOID:3052"} @@ -150153,16 +150168,16 @@ subset: ordo_disorder {source="Orphanet:218"} subset: orphanet_rare {source="Orphanet:218"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:124200] -synonym: "dar" RELATED [OMIM:124200] -synonym: "Darier disease" EXACT [OMIM:124200] -synonym: "Darier disease, acral hemorrhagic type" RELATED [OMIM:124200] -synonym: "Darier disease, segmental" RELATED [OMIM:124200] +synonym: "DAR" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "dar" RELATED [] +synonym: "Darier disease" EXACT [icd11.foundation:643994486, NCIT:C84665, OMIM:124200, Orphanet:218] +synonym: "Darier disease, acral hemorrhagic type" RELATED [] +synonym: "Darier disease, segmental" RELATED [] synonym: "Darier White disease" RELATED [GARD:0006243] synonym: "Darier's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:2734, MONDO:LexicalVariant, SCTID:268355000] -synonym: "Darier-White disease" EXACT [DOID:2734, MONDO:Lexical, OMIM:124200, Orphanet:218] -synonym: "Keratosis Follicularis" EXACT [NORD:1329] -synonym: "keratosis follicularis" EXACT [OMIM:124200, Orphanet:218] +synonym: "Darier-White disease" EXACT [DOID:2734, icd11.foundation:643994486, MONDO:Lexical, OMIM:124200, Orphanet:218] +synonym: "Keratosis Follicularis" EXACT [DOID:2734, icd11.foundation:643994486, NCIT:C84665, NORD:1329, OMIM:124200, Orphanet:218] +synonym: "keratosis follicularis" EXACT [DOID:2734, icd11.foundation:643994486, NCIT:C84665, OMIM:124200, Orphanet:218] xref: DOID:2734 {source="MONDO:equivalentTo"} xref: GARD:6243 {source="MONDO:GARD"} xref: ICD10CM:E50.8 {source="DOID:2734"} @@ -150192,9 +150207,9 @@ id: MONDO:0007418 name: Darwinian tubercle of pinna comment: Editor notes: OMIM treats this as two diseases subset: merged_class -synonym: "Darwinian Notch" RELATED [OMIM:124300] -synonym: "Darwinian point of Pinna" RELATED [OMIM:124300] -synonym: "Darwinian tubercle of pinna" EXACT [OMIM:124300, OMIM:124400] +synonym: "Darwinian Notch" RELATED [] +synonym: "Darwinian point of Pinna" RELATED [] +synonym: "Darwinian tubercle of pinna" EXACT [OMIM:124300] xref: MEDGEN:343772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:124300 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: OMIM:124400 {source="MONDO:equivalentObsolete"} @@ -150218,13 +150233,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:79499"} subset: orphanet_rare {source="Orphanet:79499"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant deafness-onychodystrophy syndrome" EXACT [] -synonym: "DDOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:124480] -synonym: "DDOD syndrome" EXACT [Orphanet:79499] -synonym: "Ddod syndrome" RELATED [OMIM:124480] +synonym: "autosomal dominant deafness-onychodystrophy syndrome" EXACT [Orphanet:79499] +synonym: "DDOD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "DDOD syndrome" EXACT [OMIM:124480, Orphanet:79499] +synonym: "Ddod syndrome" RELATED [] synonym: "deafness and onychodystrophy, dominant form" RELATED [GARD:0004732] -synonym: "deafness, congenital, and onychodystrophy, autosomal dominant" RELATED [MONDO:Lexical, OMIM:124480] -synonym: "deafness, congenital, with onychodystrophy, autosomal dominant" RELATED [OMIM:124480] +synonym: "deafness, congenital, and onychodystrophy, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "deafness, congenital, with onychodystrophy, autosomal dominant" RELATED [] synonym: "deafness-onychodystrophy syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "familial ectodermal dysplasia with sensori-neural deafness and other anomalies" RELATED [GARD:0004732] synonym: "Robinson Miller Bensimon syndrome" RELATED [GARD:0004732] @@ -150254,7 +150269,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:3232"} subset: orphanet_rare {source="Orphanet:3232"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness, conductive stapedial, with EAR malformation and facial palsy" RELATED [OMIM:124490] +synonym: "deafness, conductive stapedial, with EAR malformation and facial palsy" RELATED [] synonym: "Sellars-Beighton syndrome" EXACT [Orphanet:3232] xref: GARD:1684 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:3232", source="Orphanet:3232/attributed", source="Orphanet:3232/ntbt"} @@ -150275,15 +150290,15 @@ subset: ordo_disorder {source="Orphanet:494"} subset: orphanet_rare {source="Orphanet:494"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes" RELATED [OMIM:124500] -synonym: "keratoderma hereditarium mutilans" EXACT [OMIM:124500] +synonym: "deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes" RELATED [] +synonym: "keratoderma hereditarium mutilans" EXACT [DOID:0111339, OMIM:124500, Orphanet:494] synonym: "KHM" RELATED ABBREVIATION [GARD:0003092] -synonym: "mutilating keratoderma" RELATED [OMIM:124500] -synonym: "mutilating keratoderma of Vohwinkel" EXACT [Orphanet:494] -synonym: "mutilating keratoderma plus deafness" EXACT [Orphanet:494] -synonym: "PPK mutilans and deafness" EXACT [Orphanet:494] -synonym: "Vohwinkel syndrome" EXACT [OMIM:124500, Orphanet:494] -synonym: "VOWNKL" RELATED ABBREVIATION [OMIM:124500] +synonym: "mutilating keratoderma" RELATED [] +synonym: "mutilating keratoderma of Vohwinkel" EXACT [DOID:0111339, Orphanet:494] +synonym: "mutilating keratoderma plus deafness" EXACT [DOID:0111339, Orphanet:494] +synonym: "PPK mutilans and deafness" EXACT [DOID:0111339, Orphanet:494] +synonym: "Vohwinkel syndrome" EXACT [DOID:0111339, OMIM:124500, Orphanet:494] +synonym: "VOWNKL" RELATED ABBREVIATION [] xref: DOID:0111339 {source="MONDO:equivalentTo"} xref: GARD:3092 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:494", source="Orphanet:494/attributed", source="Orphanet:494/ntbt"} @@ -150318,17 +150333,17 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant deafness 1" NARROW [DOID:0110541] -synonym: "autosomal dominant nonsyndromic deafness 1" NARROW [OMIM:124900] +synonym: "autosomal dominant deafness 1" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 1" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 1" NARROW [DOID:0110541, MONDORULE:1] -synonym: "deafness, autosomal dominant 1" NARROW [MONDO:Lexical, OMIM:124900] -synonym: "deafness, autosomal dominant 1, with or without thrombocytopenia" NARROW [OMIM:124900, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 1" NARROW [MONDORULE:1, OMIM:124900] -synonym: "deafness, progressive Low tone" NARROW [OMIM:124900] -synonym: "DFNA1" NARROW ABBREVIATION [DOID:0110541, MONDO:Lexical, OMIM:124900] +synonym: "autosomal dominant nonsyndromic deafness type 1" NARROW [MONDORULE:1] +synonym: "deafness, autosomal dominant 1" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant 1, with or without thrombocytopenia" NARROW [] +synonym: "deafness, autosomal dominant type 1" NARROW [MONDORULE:1] +synonym: "deafness, progressive Low tone" NARROW [] +synonym: "DFNA1" NARROW ABBREVIATION [MONDO:Lexical] synonym: "DIAPH1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary Low frequency hearing loss" RELATED [OMIM:124900] +synonym: "hereditary Low frequency hearing loss" RELATED [] synonym: "hereditary low frequency hearing loss 1" EXACT [DOID:0110541] synonym: "Konigsmark syndrome" EXACT [DOID:0110541, OMIM:124900] synonym: "LFHL1" EXACT ABBREVIATION [DOID:0110541] @@ -150386,7 +150401,7 @@ subset: orphanet_rare {source="Orphanet:3241"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "deafness craniofacial syndrome" RELATED [GARD:0001686] -synonym: "deafness-craniofacial syndrome" EXACT [OMIM:125230] +synonym: "deafness-craniofacial syndrome" EXACT [OMIM:125230, Orphanet:3241] xref: GARD:1686 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:3241/attributed", source="Orphanet:3241/ntbt", source="Orphanet:3241"} xref: MEDGEN:342201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -150405,9 +150420,9 @@ name: optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, subset: gard_rare {source="GARD:15057", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "dominant optic atrophy plus syndrome" RELATED [OMIM:125250] +synonym: "dominant optic atrophy plus syndrome" RELATED [] synonym: "optic atrophy 1 and deafness" RELATED [GARD:0009897] -synonym: "optic atrophy plus syndrome" EXACT [OMIM:125250, OMIM:genemap2] +synonym: "optic atrophy plus syndrome" EXACT [] synonym: "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" EXACT [OMIM:125250] xref: GARD:15057 {source="MONDO:GARD"} xref: MEDGEN:478179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -150423,7 +150438,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007430 name: dens evaginatus -synonym: "dens evaginatus" EXACT [OMIM:125280] +synonym: "dens evaginatus" EXACT [icd11.foundation:474468588, OMIM:125280] xref: icd11.foundation:474468588 {source="MONDO:equivalentTo"} xref: MEDGEN:78585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:125280 {source="MONDO:equivalentTo"} @@ -150434,7 +150449,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007431 name: dens in dente and palatal invaginations -synonym: "dens in dente and palatal INVAGINATIONS" RELATED [OMIM:125300] +synonym: "dens in dente and palatal INVAGINATIONS" RELATED [] xref: MEDGEN:377628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538211 {source="MONDO:equivalentTo"} xref: OMIM:125300 {source="MONDO:equivalentTo"} @@ -150449,12 +150464,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "CADASIL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125310] -synonym: "Casil" RELATED [OMIM:125310] -synonym: "cerebral arteriopathy with subcortical infaracts and leukoencephalopathy" EXACT [OMIMPS:125310] -synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT CLINGEN_LABEL [] -synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical, OMIM:125310] -synonym: "dementia, hereditary multi-infarct type" RELATED [OMIM:125310] +synonym: "CADASIL" EXACT ABBREVIATION [DOID:13945, MONDO:Lexical] +synonym: "Casil" RELATED [] +synonym: "cerebral arteriopathy with subcortical infaracts and leukoencephalopathy" EXACT [] +synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT CLINGEN_LABEL [OMIMPS:125310] +synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical] +synonym: "dementia, hereditary multi-infarct type" RELATED [] xref: DOID:13945 {source="MONDO:equivalentTo"} xref: ICD9:323.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -150489,13 +150504,13 @@ subset: ordo_disorder {source="Orphanet:412206"} subset: orphanet_rare {source="Orphanet:412206"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dental noneruption" RELATED [OMIM:125350] -synonym: "failure of tooth eruption, primary" RELATED [MONDO:Lexical, OMIM:125350] -synonym: "PFE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125350, Orphanet:412206] -synonym: "posterior Openbite malocclusion, familial" RELATED [OMIM:125350] -synonym: "primary failure of eruption, nonsyndromic" RELATED [OMIM:125350] -synonym: "primary retention of teeth" EXACT [OMIM:125350, Orphanet:412206] -synonym: "unerupted second primary molar" RELATED [OMIM:125350] +synonym: "dental noneruption" RELATED [] +synonym: "failure of tooth eruption, primary" RELATED [MONDO:Lexical] +synonym: "PFE" EXACT ABBREVIATION [DOID:0111341, MONDO:Lexical, OMIM:125350, Orphanet:412206] +synonym: "posterior Openbite malocclusion, familial" RELATED [] +synonym: "primary failure of eruption, nonsyndromic" RELATED [] +synonym: "primary retention of teeth" EXACT [DOID:0111341, OMIM:125350, Orphanet:412206] +synonym: "unerupted second primary molar" RELATED [] xref: DOID:0111341 {source="MONDO:equivalentTo"} xref: GARD:17692 {source="MONDO:GARD"} xref: ICD10CM:K00.8 {source="Orphanet:412206/attributed", source="Orphanet:412206/ntbt", source="Orphanet:412206"} @@ -150517,13 +150532,13 @@ subset: ordo_disorder {source="Orphanet:101"} subset: orphanet_rare {source="Orphanet:101"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ataxia, chorea, seizures, and dementia" RELATED [OMIM:125370] -synonym: "dentatorubral pallidoluysian atrophy" RELATED [Orphanet:101] -synonym: "dentatorubral-pallidoluysian atrophy" EXACT [MONDO:Lexical, OMIM:125370] -synonym: "Dentatorubropallidoluysian atrophy" EXACT [Orphanet:101] -synonym: "DRPLA" EXACT ABBREVIATION [DOID:0060162, MONDO:Lexical, OMIM:125370, Orphanet:101] +synonym: "ataxia, chorea, seizures, and dementia" RELATED [] +synonym: "dentatorubral pallidoluysian atrophy" RELATED [] +synonym: "dentatorubral-pallidoluysian atrophy" EXACT [DOID:0060162, MONDO:Lexical, NCIT:C122653, OMIM:125370] +synonym: "Dentatorubropallidoluysian atrophy" EXACT [NCIT:C122653, Orphanet:101] +synonym: "DRPLA" EXACT ABBREVIATION [DOID:0060162, MONDO:Lexical, NCIT:C122653, OMIM:125370, Orphanet:101] synonym: "haw River syndrome" EXACT [DOID:0060162, OMIM:125370] -synonym: "myoclonic epilepsy with choreoathetosis" RELATED [OMIM:125370] +synonym: "myoclonic epilepsy with choreoathetosis" RELATED [] synonym: "Naito Oyanagi disease" RELATED [GARD:0005643] synonym: "Naito-Oyanagi disease" EXACT [DOID:0060162, OMIM:125370, Orphanet:101] synonym: "NOD" RELATED ABBREVIATION [GARD:0005643] @@ -150560,16 +150575,16 @@ subset: nord_rare {source="NORD:1041", source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99789"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DD-I" EXACT [Orphanet:99789] -synonym: "dentin dysplasia type I" EXACT CLINGEN_LABEL [] -synonym: "dentin dysplasia, Shields type 1" RELATED [OMIM:125400] +synonym: "DD-I" EXACT ABBREVIATION [Orphanet:99789] +synonym: "dentin dysplasia type I" EXACT CLINGEN_LABEL [Orphanet:99789] +synonym: "dentin dysplasia, Shields type 1" RELATED [] synonym: "dentin dysplasia, type 1" RELATED [GARD:0001807] -synonym: "dentin dysplasia, type I" RELATED [MONDO:Lexical, OMIM:125400] -synonym: "dentin dysplasia, type I, with extreme microdontia and misshapen teeth" RELATED [OMIM:125400] -synonym: "dentin dysplasia, type i, with microdontia and misshapen teeth" EXACT [OMIM:125400, OMIM:genemap2] +synonym: "dentin dysplasia, type I" RELATED [MONDO:Lexical] +synonym: "dentin dysplasia, type I, with extreme microdontia and misshapen teeth" RELATED [] +synonym: "dentin dysplasia, type i, with microdontia and misshapen teeth" EXACT [] synonym: "DTDP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125400, Orphanet:99789] synonym: "radicular dentin dysplasia" EXACT [OMIM:125400, Orphanet:99789] -synonym: "rootless teeth" RELATED [OMIM:125400] +synonym: "rootless teeth" RELATED [] xref: GARD:1807 {source="MONDO:GARD"} xref: ICD10CM:K00.5 {source="Orphanet:99789/attributed", source="Orphanet:99789/ntbt", source="Orphanet:99789"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -150597,18 +150612,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99791"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anomalous dysplasia of dentin" RELATED [OMIM:125420] -synonym: "coronal dentin dysplasia" RELATED [OMIM:125420] -synonym: "DD-II" EXACT [Orphanet:99791] +synonym: "anomalous dysplasia of dentin" RELATED [] +synonym: "coronal dentin dysplasia" RELATED [] +synonym: "DD-II" EXACT ABBREVIATION [Orphanet:99791] synonym: "dentin dyspalsia, Shields type 2" RELATED [GARD:0001806] synonym: "dentin dysplasia, coronal" RELATED [GARD:0001806] -synonym: "dentin dysplasia, Shields type 2" RELATED [OMIM:125420] -synonym: "dentin dysplasia, type 2" RELATED [OMIM:125420] -synonym: "dentin dysplasia, type II" RELATED [OMIM:125420] -synonym: "DTDP2" EXACT ABBREVIATION [Orphanet:99791] -synonym: "Dtdp2" RELATED [OMIM:125420] -synonym: "pulp stones" RELATED [OMIM:125420] -synonym: "pulpal dysplasia" RELATED [OMIM:125420] +synonym: "dentin dysplasia, Shields type 2" RELATED [] +synonym: "dentin dysplasia, type 2" RELATED [] +synonym: "dentin dysplasia, type II" RELATED [] +synonym: "DTDP2" EXACT ABBREVIATION [OMIM:125420, Orphanet:99791] +synonym: "Dtdp2" RELATED [] +synonym: "pulp stones" RELATED [] +synonym: "pulpal dysplasia" RELATED [] xref: GARD:1806 {source="MONDO:GARD"} xref: ICD10CM:K00.5 {source="Orphanet:99791", source="Orphanet:99791/attributed", source="Orphanet:99791/ntbt"} xref: ICD9:520.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -150631,7 +150646,7 @@ subset: orphanet_rare {source="Orphanet:99792"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dentin dysplasia sclerotic bones" RELATED [GARD:0001808] -synonym: "dentin dysplasia with sclerotic bones" RELATED [OMIM:125440] +synonym: "dentin dysplasia with sclerotic bones" RELATED [] synonym: "sclerotic bones with dentin dysplasia" RELATED [GARD:0001808] xref: GARD:1808 {source="MONDO:GARD"} xref: ICD10CM:K00.5 {source="Orphanet:99792/attributed", source="Orphanet:99792/ntbt", source="Orphanet:99792"} @@ -150655,12 +150670,12 @@ is_a: MONDO:0003847 {source="MESH:C565112/inferred"} ! hereditary disease [Term] id: MONDO:0007440 name: major affective disorder 1 -synonym: "bipolar affective disorder" RELATED [OMIM:125480] +synonym: "bipolar affective disorder" RELATED [] synonym: "MAFD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125480] -synonym: "MAJOR affective disorder 1" RELATED [OMIM:125480] +synonym: "MAJOR affective disorder 1" RELATED [] synonym: "major affective disorder 1" EXACT [OMIM:125480] -synonym: "manic-depressive psychosis" RELATED [OMIM:125480] -synonym: "manic-depressive psychosis, autosomal" RELATED [OMIM:125480] +synonym: "manic-depressive psychosis" RELATED [] +synonym: "manic-depressive psychosis, autosomal" RELATED [] xref: DOID:0080220 {source="MONDO:equivalentObsolete"} xref: MEDGEN:377615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565111 {source="MONDO:equivalentTo"} @@ -150680,17 +150695,17 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:166260"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Capdepont teeth" EXACT [OMIM:125490, Orphanet:166260] -synonym: "dentinogenesis imperfecta 1" RELATED [MONDO:Lexical, OMIM:125490] -synonym: "dentinogenesis imperfecta type 1" EXACT [MONDORULE:1, OMIM:125490] -synonym: "dentinogenesis imperfecta without osteogenesis imperfecta" RELATED [OMIM:125490] +synonym: "dentinogenesis imperfecta 1" RELATED [MONDO:Lexical] +synonym: "dentinogenesis imperfecta type 1" EXACT [MONDORULE:1] +synonym: "dentinogenesis imperfecta without osteogenesis imperfecta" RELATED [] synonym: "dentinogenesis imperfecta, Shields type 2" EXACT [OMIM:125490, Orphanet:166260] -synonym: "dentinogenesis imperfecta, Shields type II" EXACT [OMIM:125490, OMIM:genemap2] -synonym: "DGI-2" EXACT [Orphanet:166260] -synonym: "DGI-II" RELATED [OMIM:125490] -synonym: "DGI1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:125490] -synonym: "DI-2" EXACT [Orphanet:166260] -synonym: "opalescent dentin" RELATED [OMIM:125490] -synonym: "opalescent teeth without osteogenesis imperfecta" RELATED [OMIM:125490] +synonym: "dentinogenesis imperfecta, Shields type II" EXACT [] +synonym: "DGI-2" EXACT ABBREVIATION [Orphanet:166260] +synonym: "DGI-II" RELATED [] +synonym: "DGI1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "DI-2" EXACT ABBREVIATION [Orphanet:166260] +synonym: "opalescent dentin" RELATED [] +synonym: "opalescent teeth without osteogenesis imperfecta" RELATED [] xref: GARD:12796 {source="MONDO:GARD"} xref: ICD10CM:K00.5 {source="Orphanet:166260/attributed", source="Orphanet:166260/ntbt", source="Orphanet:166260"} xref: icd11.foundation:314718507 {source="MONDO:equivalentTo"} @@ -150716,8 +150731,8 @@ synonym: "brandywine type dentinogenesis imperfecta" EXACT [OMIM:125500] synonym: "dentinogenesis imperfecta Shields type 3" EXACT [GARD:0010144] synonym: "Dentinogenesis Imperfecta Type III" EXACT [NORD:1043] synonym: "dentinogenesis imperfecta type III" EXACT [GARD:0010144] -synonym: "dentinogenesis imperfecta, Shields type 3" EXACT [Orphanet:166265] -synonym: "dentinogenesis imperfecta, Shields type III" EXACT [OMIM:125500] +synonym: "dentinogenesis imperfecta, Shields type 3" EXACT [OMIM:125500, Orphanet:166265] +synonym: "dentinogenesis imperfecta, Shields type III" EXACT [] synonym: "DGI-III" EXACT [OMIM:125500] xref: GARD:10144 {source="MONDO:GARD"} xref: ICD10CM:K00.5 {source="Orphanet:166265/attributed", source="Orphanet:166265/ntbt", source="Orphanet:166265"} @@ -150747,10 +150762,10 @@ subset: ordo_morphological_anomaly {source="Orphanet:1166"} subset: orphanet_rare {source="Orphanet:1166"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "asymmetric crying facies" RELATED [OMIM:125520] -synonym: "Cayler cardiofacial syndrome" RELATED [OMIM:125520] -synonym: "depressor anguli oris muscle, hypoplasia of" RELATED [OMIM:125520] -synonym: "facial paresis, partial, unilateral" RELATED [OMIM:125520] +synonym: "asymmetric crying facies" RELATED [] +synonym: "Cayler cardiofacial syndrome" RELATED [] +synonym: "depressor anguli oris muscle, hypoplasia of" RELATED [] +synonym: "facial paresis, partial, unilateral" RELATED [] synonym: "isolated asymmetric crying facies" EXACT [Orphanet:1166] xref: GARD:16557 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:1166/attributed", source="Orphanet:1166/ntbt", source="Orphanet:1166"} @@ -150785,8 +150800,8 @@ subset: ordo_disorder {source="Orphanet:86920"} subset: orphanet_rare {source="Orphanet:86920"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dermatopathia pigmentosa reticularis" EXACT [MONDO:Lexical, OMIM:125595] -synonym: "DPR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:125595] +synonym: "dermatopathia pigmentosa reticularis" EXACT [DOID:0111342, MONDO:Lexical, OMIM:125595, Orphanet:86920] +synonym: "DPR" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111342 {source="MONDO:equivalentTo"} xref: GARD:8550 {source="MONDO:GARD"} xref: ICD10CM:Q82.4 {source="Orphanet:86920/attributed", source="Orphanet:86920/ntbt", source="Orphanet:86920"} @@ -150807,8 +150822,8 @@ id: MONDO:0007446 name: dermatosis papulosa nigra def: "A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "dermatosis papulosa nigra" EXACT [DOID:4400, OMIM:125600] -synonym: "dermatosis papulosa nigra (morphologic abnormality)" EXACT [DOID:4400] +synonym: "dermatosis papulosa nigra" EXACT [DOID:4400, icd11.foundation:168986957, NCIT:C2984, OMIM:125600] +synonym: "dermatosis papulosa nigra (morphologic abnormality)" EXACT [] xref: DOID:4400 {source="MONDO:equivalentTo", source="EFO:1000686"} xref: EFO:1000686 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:L82 {source="DOID:4400", source="MONDO:directSiblingOf"} @@ -150835,11 +150850,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:493342"} subset: orphanet_rare {source="Orphanet:493342"} subset: rare -synonym: "angioedema, vibratory" BROAD [OMIM:193050] -synonym: "DDU" EXACT ABBREVIATION [MONDO:Lexical, OMIM:125630] +synonym: "angioedema, vibratory" BROAD [] +synonym: "DDU" EXACT ABBREVIATION [MONDO:Lexical] synonym: "dermodistortive urticaria" EXACT [MONDO:Lexical, OMIM:125630] synonym: "VBU" EXACT ABBREVIATION [OMIM:125630] -synonym: "vibratory angioedema" BROAD [MONDO:0008657, MONDO:0024254, OMIM:193050] +synonym: "vibratory angioedema" BROAD [MONDO:0008657, MONDO:0024254] synonym: "vibratory urticaria, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant] xref: GARD:9806 {source="MONDO:GARD"} xref: ICD9:995.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -150863,12 +150878,12 @@ def: "Familial dermographism is a condition also known as skin writing. When peo subset: otar {source="MONDO:OTAR"} synonym: "DDU" RELATED ABBREVIATION [MESH:C536612] synonym: "dermatographia" RELATED [GARD:0009480] -synonym: "dermatographic urticaria" EXACT [DOID:743, ICD9CM:708.3] -synonym: "Dermatographism, familial" RELATED [MESH:C536612, OMIM:125635] +synonym: "dermatographic urticaria" EXACT [DOID:743, ICD10CM:L50.3, ICD9CM:708.3] +synonym: "Dermatographism, familial" RELATED [MESH:C536612] synonym: "dermo-distortive urticaria" RELATED [GARD:0009480, MESH:C536612] synonym: "Dermodistortive urticaria" RELATED [MESH:C536612] synonym: "dermographism" EXACT [DOID:743, GARD:0009480] -synonym: "dermographism, familial" RELATED [MESH:C536612, OMIM:125635] +synonym: "dermographism, familial" RELATED [MESH:C536612] synonym: "familial dermatographism" RELATED [GARD:0009480, MESH:C536612] synonym: "familial dermographism" RELATED [GARD:0009480] synonym: "VBU" RELATED ABBREVIATION [MESH:C536612] @@ -150912,8 +150927,8 @@ synonym: "dermo odontodysplasia" RELATED [] synonym: "dermo-odonto dysplasia" EXACT [] synonym: "dermo-odonto-dysplasia" RELATED [GARD:0001816] synonym: "dermoodonto dysplasia" RELATED [] -synonym: "DERMOODONTODYSPLASIA" RELATED ABBREVIATION [OMIM:125640] -synonym: "ectodermal dysplasia, hair-nail-Tooth type" RELATED [OMIM:125640] +synonym: "DERMOODONTODYSPLASIA" RELATED ABBREVIATION [] +synonym: "ectodermal dysplasia, hair-nail-Tooth type" RELATED [] xref: GARD:1816 {source="MONDO:GARD"} xref: ICD10CM:Q82.4 {source="Orphanet:1660", source="Orphanet:1660/attributed", source="Orphanet:1660/ntbt"} xref: MEDGEN:377602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -150937,19 +150952,19 @@ synonym: "ADH deficiency" EXACT [NCIT:C84933] synonym: "antidiuretic hormone deficiency" EXACT [NCIT:C84933] synonym: "Arginine vasopressin deficiency" EXACT [NCIT:C84933] synonym: "AVP deficiency" EXACT [NCIT:C84933] -synonym: "central diabetes insipidus" RELATED EXCLUDE [DOID:12388] +synonym: "central diabetes insipidus" RELATED EXCLUDE [] synonym: "diabetes insipidus of pituitary gland" EXACT [MONDO:design_pattern] -synonym: "diabetes insipidus, cranial type" RELATED [OMIM:125700] -synonym: "diabetes insipidus, neurohypophyseal" RELATED [OMIM:125700] -synonym: "diabetes insipidus, primary central" RELATED [OMIM:125700] +synonym: "diabetes insipidus, cranial type" RELATED [] +synonym: "diabetes insipidus, neurohypophyseal" RELATED [] +synonym: "diabetes insipidus, primary central" RELATED [] synonym: "hereditary CDI" EXACT [Orphanet:30925] -synonym: "hereditary central diabetes insipidus" RELATED [Orphanet:30925] +synonym: "hereditary central diabetes insipidus" RELATED [] synonym: "hereditary neurogenic diabetes insipidus" EXACT [Orphanet:30925] -synonym: "neurogenic diabetes insipidus" RELATED [NCIT:C84933] +synonym: "neurogenic diabetes insipidus" RELATED [] synonym: "pituitary diabetes insipidus" EXACT [DOID:12388] synonym: "pituitary gland diabetes insipidus" EXACT [MONDO:patterns/location] synonym: "vasopressin defective diabetes insipidus" EXACT [DOID:12388] -synonym: "vasopressin deficiency" EXACT [DOID:12388] +synonym: "vasopressin deficiency" EXACT [DOID:12388, NCIT:C84933] xref: DOID:12388 {source="MONDO:equivalentTo"} xref: GARD:16629 {source="MONDO:GARD"} xref: ICD10CM:E23.2 {source="Orphanet:30925/e", source="Orphanet:30925/specific", source="Orphanet:30925"} @@ -150984,9 +150999,9 @@ subset: gard_rare {source="GARD:15058", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diabetes insipidus, nephrogenic, 2" EXACT [OMIM:125800, OMIM:genemap2] -synonym: "diabetes insipidus, nephrogenic, autosomal" EXACT [OMIM:125800] -synonym: "diabetes insipidus, nephrogenic, type 2" RELATED [OMIM:125800] +synonym: "diabetes insipidus, nephrogenic, 2" EXACT [] +synonym: "diabetes insipidus, nephrogenic, autosomal" EXACT [] +synonym: "diabetes insipidus, nephrogenic, type 2" RELATED [] xref: DOID:0081061 {source="MONDO:equivalentTo"} xref: GARD:15058 {source="MONDO:GARD"} xref: MEDGEN:289643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -151009,14 +151024,14 @@ synonym: "diabetes mellitus MODY type 1" RELATED [GARD:0003418] synonym: "diabetes mellitus type 2" EXACT [DOID:0111099] synonym: "hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes" EXACT [NCIT:C129744] synonym: "HNF4A-associated monogenic diabetes" EXACT [NCIT:C129744] -synonym: "maturity onset diabetes of the Young, type 1" EXACT [NCIT:C129744] -synonym: "maturity-onset diabetes of the young, type 1" RELATED [GARD:0003418, MONDO:Lexical, OMIM:125850] +synonym: "maturity onset diabetes of the Young, type 1" EXACT [] +synonym: "maturity-onset diabetes of the young, type 1" RELATED [GARD:0003418, MONDO:Lexical] synonym: "mild juvenile diabetes mellitus" EXACT [DOID:0111099, OMIM:125850] synonym: "MODY HNF4A related" RELATED [GARD:0003418] synonym: "MODY type 1" EXACT [DOID:0111099] -synonym: "MODY, type 1" RELATED [OMIM:125850] -synonym: "MODY, type I" EXACT [OMIM:125850, OMIM:genemap2] -synonym: "MODY1" EXACT ABBREVIATION [DOID:0111099, MONDO:Lexical, OMIM:125850] +synonym: "MODY, type 1" RELATED [] +synonym: "MODY, type I" EXACT [] +synonym: "MODY1" EXACT ABBREVIATION [DOID:0111099, MONDO:Lexical, NCIT:C129744, OMIM:125850] synonym: "type 1 maturity-onset diabetes of the young" RELATED [GARD:0003418] xref: DOID:0111099 {source="MONDO:equivalentTo"} xref: GARD:3418 {source="MONDO:GARD"} @@ -151045,16 +151060,16 @@ synonym: "diabetes mellitus MODY type 2" RELATED [GARD:0010657] synonym: "GCK maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "GCK-associated diabetes mellitus" EXACT [NCIT:C129741] synonym: "glucokinase-associated diabetes mellitus" EXACT [NCIT:C129741] -synonym: "maturity onset diabetes of the Young, type 2" EXACT [NCIT:C129741] +synonym: "maturity onset diabetes of the Young, type 2" EXACT [] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in GCK" EXACT [] -synonym: "maturity-onset diabetes of the young, type 2" RELATED [GARD:0010657, MONDO:Lexical, OMIM:125851] -synonym: "MODY 2 monogenic diabetes type 2" EXACT [NCIT:C129741] +synonym: "maturity-onset diabetes of the young, type 2" RELATED [GARD:0010657, MONDO:Lexical] +synonym: "MODY 2 monogenic diabetes type 2" EXACT [] synonym: "MODY glucokinase-related" EXACT [DOID:0111100] synonym: "MODY type 2" EXACT [DOID:0111100] -synonym: "MODY, glucokinase-related" RELATED [OMIM:125851] -synonym: "MODY, type 2" RELATED [OMIM:125851] -synonym: "MODY, type II" EXACT [OMIM:125851, OMIM:genemap2] -synonym: "MODY2" EXACT ABBREVIATION [DOID:0111100, MONDO:Lexical, OMIM:125851] +synonym: "MODY, glucokinase-related" RELATED [] +synonym: "MODY, type 2" RELATED [] +synonym: "MODY, type II" EXACT [] +synonym: "MODY2" EXACT ABBREVIATION [DOID:0111100, MONDO:Lexical, NCIT:C129741, OMIM:125851] synonym: "type 2 maturity-onset diabetes of the young" RELATED [GARD:0010657] xref: DOID:0111100 {source="MONDO:equivalentTo"} xref: GARD:10657 {source="MONDO:GARD"} @@ -151076,8 +151091,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10657/maturi id: MONDO:0007454 name: type 1 diabetes mellitus 2 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] -synonym: "diabetes mellitus, insulin-dependent, 2" RELATED [OMIM:125852] -synonym: "diabetes mellitus, insulin-dependent, type 2" EXACT [MONDORULE:1, OMIM:125852] +synonym: "diabetes mellitus, insulin-dependent, 2" RELATED [] +synonym: "diabetes mellitus, insulin-dependent, type 2" EXACT [MONDORULE:1] synonym: "IDDM2" EXACT ABBREVIATION [DOID:0110741] synonym: "INS type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "insulin-dependent diabetes mellitus 2" EXACT [DOID:0110741, OMIM:125852] @@ -151131,8 +151146,8 @@ name: digitotalar dysmorphism; ulnar drift, hereditary subset: gard_rare {source="GARD:15059", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "digitotalar dysmorphism" RELATED [OMIM:126050] -synonym: "ulnar drift, hereditary" RELATED [OMIM:126050] +synonym: "digitotalar dysmorphism" RELATED [] +synonym: "ulnar drift, hereditary" RELATED [] xref: GARD:15059 {source="MONDO:GARD"} xref: MEDGEN:342156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:126050 {source="MONDO:equivalentTo"} @@ -151143,11 +151158,11 @@ is_a: MONDO:0015240 {source="Orphanet:1146/btnt"} ! digitotalar dysmorphism [Term] id: MONDO:0007459 name: dilution, pigmentary -synonym: "albinism, partial" RELATED [OMIM:126070] -synonym: "Albinoidism, oculocutaneous, autosomal dominant" RELATED [OMIM:126070] +synonym: "albinism, partial" RELATED [] +synonym: "Albinoidism, oculocutaneous, autosomal dominant" RELATED [] synonym: "dilution, pigmentary" EXACT [OMIM:126070] synonym: "hypomelanotic disorder" RELATED [GARD:0006731] -synonym: "hypopigmentation" RELATED [OMIM:126070] +synonym: "hypopigmentation" RELATED [] xref: MEDGEN:406294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566872 {source="MONDO:equivalentTo"} xref: OMIM:126070 {source="MONDO:equivalentTo"} @@ -151158,9 +151173,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007460 name: discrimination, Two-point, reduction 1N -synonym: "discrimination, TWO-point, reduction IN" RELATED [OMIM:126180] -synonym: "discrimination, Two-point, reduction type 1N" EXACT [MONDORULE:4, OMIM:126180] -synonym: "sensory discrimination" RELATED [OMIM:126180] +synonym: "discrimination, TWO-point, reduction IN" RELATED [] +synonym: "discrimination, Two-point, reduction type 1N" EXACT [MONDORULE:4] +synonym: "sensory discrimination" RELATED [] xref: MEDGEN:343713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:126180 {source="MONDO:equivalentTo"} xref: UMLS:C1852074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:343713"} @@ -151176,7 +151191,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2868"} subset: orphanet_rare {source="Orphanet:2868"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "disproportionate short stature with ptosis and valvular heart lesions" RELATED [OMIM:126190] +synonym: "disproportionate short stature with ptosis and valvular heart lesions" RELATED [] xref: GARD:16612 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2868/attributed", source="Orphanet:2868/ntbt", source="Orphanet:2868"} xref: MEDGEN:338866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -151192,8 +151207,8 @@ id: MONDO:0007462 name: multiple sclerosis, susceptibility to subset: predisposition subset: prototype_pattern -synonym: "disseminated sclerosis" RELATED [OMIM:126200] -synonym: "MS" RELATED ABBREVIATION [OMIM:126200] +synonym: "disseminated sclerosis" RELATED [] +synonym: "MS" RELATED ABBREVIATION [] xref: MEDGEN:358269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:126200 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} xref: Orphanet:802 {source="OMIM:126200"} @@ -151206,7 +151221,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:126200"} ! inheri id: MONDO:0007463 name: distal osteosclerosis synonym: "distal osteosclerosis" EXACT [OMIM:126250] -synonym: "osteosclerosis, distal" RELATED [OMIM:126250] +synonym: "osteosclerosis, distal" RELATED [] xref: MEDGEN:338863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565093 {source="MONDO:equivalentTo"} xref: OMIM:126250 {source="MONDO:equivalentTo"} @@ -151219,8 +151234,8 @@ name: obsolete isolated distichiasis def: "OBSOLETE. Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated." [Orphanet:99177] subset: ordo_disorder {source="Orphanet:99177"} subset: ordo_morphological_anomaly {source="Orphanet:99177"} -synonym: "distichiasis" RELATED [OMIM:126300] -synonym: "eyelashes, two rows of" RELATED [OMIM:126300] +synonym: "distichiasis" RELATED [] +synonym: "eyelashes, two rows of" RELATED [] xref: ICD10CM:Q10.3 {source="Orphanet:99177/attributed", source="Orphanet:99177/ntbt", source="Orphanet:99177"} xref: ICD9:743.63 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:126300 {source="Orphanet:99177/e", source="MONDO:obsoleteEquivalent", source="Orphanet:99177"} @@ -151234,7 +151249,7 @@ consider: HP:0009743 id: MONDO:0007465 name: distichiasis with congenital anomalies of the heart and peripheral vasculature synonym: "distichiasis with congenital anomalies of the heart and peripheral vasculature" EXACT [OMIM:126320] -synonym: "distichiasis-congenital heart defects-peripheral vascular anomalies syndrome" EXACT [Orphanet:1683] +synonym: "distichiasis-congenital heart defects-peripheral vascular anomalies syndrome" EXACT [] xref: MEDGEN:338862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565092 {source="MONDO:equivalentTo"} xref: OMIM:126320 {source="MONDO:equivalentTo"} @@ -151249,10 +151264,10 @@ id: MONDO:0007466 name: DNA, satellite, 3 comment: Editor note: TODO check; Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - subset: obsoletion_candidate -synonym: "D1Z1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:126370] -synonym: "DNA, satellite, III" RELATED [MONDO:Lexical, OMIM:126370] -synonym: "DNA, satellite, type 3" EXACT [MONDORULE:1, OMIM:126370] -synonym: "HS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:126370] +synonym: "D1Z1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "DNA, satellite, III" RELATED [MONDO:Lexical] +synonym: "DNA, satellite, type 3" EXACT [MONDORULE:1] +synonym: "HS3" RELATED ABBREVIATION [MONDO:Lexical] xref: OMIM:126370 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI @@ -151263,7 +151278,7 @@ id: MONDO:0007467 name: DNA, low-repetitive sequences of comment: Editor note: TODO check synonym: "DNA, low-repetitive sequences of" EXACT [OMIM:126390] -synonym: "repetitive sequence DNA" RELATED [OMIM:126390] +synonym: "repetitive sequence DNA" RELATED [] xref: MEDGEN:342148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:126390 {source="MONDO:equivalentTo"} xref: UMLS:C1852041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342148"} @@ -151273,7 +151288,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007468 name: obsolete DNA, satellite, alpha type comment: Not a disorder -synonym: "DNA, satellite, alpha type" EXACT [OMIM:126410] +synonym: "DNA, satellite, alpha type" EXACT [] xref: OMIM:126410 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2287" xsd:anyURI is_obsolete: true @@ -151303,8 +151318,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:85192"} subset: orphanet_rare {source="Orphanet:85192"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" EXACT [OMIM:126550, OMIM:genemap2] -synonym: "doughnut lesions of skull, familial" RELATED [OMIM:126550] +synonym: "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" EXACT [] +synonym: "doughnut lesions of skull, familial" RELATED [] synonym: "familial doughnut lesions of skull" EXACT [Orphanet:85192] xref: DOID:0080721 {source="MONDO:equivalentTo"} xref: GARD:16739 {source="MONDO:GARD"} @@ -151339,9 +151354,9 @@ synonym: "DHRD" EXACT ABBREVIATION [DOID:0060745, MONDO:Lexical, OMIM:126600, Or synonym: "dominant drusen" EXACT [Orphanet:75376] synonym: "dominant radial drusen" EXACT [Orphanet:75376] synonym: "Doyne honeycomb degeneration of retina" EXACT [DOID:0060745, OMIM:126600] -synonym: "Doyne honeycomb retinal dystrophy" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:126600, Orphanet:75376] -synonym: "drusen, radial, autosomal dominant" RELATED [OMIM:126600] -synonym: "familial drusen" RELATED [Orphanet:75376] +synonym: "Doyne honeycomb retinal dystrophy" EXACT CLINGEN_LABEL [DOID:0060745, MONDO:Lexical, OMIM:126600, Orphanet:75376] +synonym: "drusen, radial, autosomal dominant" RELATED [] +synonym: "familial drusen" RELATED [] synonym: "Malattia leventinese" EXACT [OMIM:126600, Orphanet:75376] xref: DOID:0060745 {source="MONDO:equivalentTo"} xref: GARD:1912 {source="MONDO:GARD"} @@ -151363,11 +151378,11 @@ name: basal laminar drusen def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3." [DOID:0060746, PMID:18252232, PMID:5448127] subset: gard_rare {source="GARD:15060", source="MONDO:GARD"} subset: rare -synonym: "basal laminar drusen" EXACT [OMIM:126700] +synonym: "basal laminar drusen" EXACT [DOID:0060746, OMIM:126700] synonym: "cuticular drusen" EXACT [DOID:0060746] synonym: "drusen of Bruch membrane" EXACT [DOID:0060746, OMIM:126700] -synonym: "drusen, cuticular" RELATED [OMIM:126700] -synonym: "drusen, early adult-onset, grouped" RELATED [OMIM:126700] +synonym: "drusen, cuticular" RELATED [] +synonym: "drusen, early adult-onset, grouped" RELATED [] synonym: "early adult-onset grouped drusen" EXACT [DOID:0060746] xref: DOID:0060746 {source="MONDO:equivalentTo"} xref: GARD:15060 {source="MONDO:GARD"} @@ -151398,12 +151413,12 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "DRS" EXACT ABBREVIATION [Orphanet:233] -synonym: "Duane anomaly" RELATED [GARD:0006288, OMIM:126800] -synonym: "Duane retraction syndrome" EXACT [GARD:0006288] -synonym: "Duane syndrome" EXACT [NORD:1062, Orphanet:233] +synonym: "Duane anomaly" RELATED [GARD:0006288] +synonym: "Duane retraction syndrome" EXACT [DOID:12557, GARD:0006288, NCIT:C84678, OMIMPS:126800, Orphanet:233] +synonym: "Duane syndrome" EXACT [NCIT:C84678, NORD:1062, Orphanet:233] synonym: "Duane's syndrome" EXACT [DOID:12557, ICD9CM:378.71] synonym: "DURS" EXACT ABBREVIATION [Orphanet:233] -synonym: "retraction syndrome" RELATED [OMIM:126800] +synonym: "retraction syndrome" RELATED [] synonym: "Stilling-Turk-Duane syndrome" EXACT [DOID:12557, GARD:0006288, Orphanet:233] xref: DOID:12557 {source="MONDO:equivalentTo"} xref: GARD:6288 {source="MONDO:GARD"} @@ -151442,8 +151457,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9743/duodena [Term] id: MONDO:0007475 name: duodenal ulcer, hyperpepsinogenemic 1 -synonym: "duodenal ulcer, hyperpepsinogenemic I" RELATED [OMIM:126850] -synonym: "duodenal Ulcer, hyperpepsinogenemic type 1" EXACT [MONDORULE:1, OMIM:126850] +synonym: "duodenal ulcer, hyperpepsinogenemic I" RELATED [] +synonym: "duodenal Ulcer, hyperpepsinogenemic type 1" EXACT [MONDORULE:1] xref: MEDGEN:343701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565086 {source="MONDO:equivalentTo"} xref: OMIM:126850 {source="MONDO:equivalentTo"} @@ -151454,10 +151469,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007476 name: familial Dupuytren contracture def: "Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared)." [Orphanet:79142] -synonym: "Dupuytren contracture" RELATED [OMIM:126900] -synonym: "Dupuytren contracture 1" RELATED [OMIM:126900] -synonym: "plantar fibromas" RELATED [OMIM:126900] -synonym: "plantar fibromatosis, familial" RELATED [OMIM:126900] +synonym: "Dupuytren contracture" RELATED [] +synonym: "Dupuytren contracture 1" RELATED [] +synonym: "plantar fibromas" RELATED [] +synonym: "plantar fibromatosis, familial" RELATED [] xref: ICD10CM:M72.0 {source="Orphanet:79142", source="Orphanet:79142/attributed", source="Orphanet:79142/ntbt"} xref: MEDGEN:41672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:126900 {source="MONDO:equivalentTo", source="Orphanet:79142", source="Orphanet:79142/e"} @@ -151479,19 +151494,19 @@ subset: orphanet_rare {source="Orphanet:2616"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "3-M syndrome" EXACT [MESH:C535314, Orphanet:2616] +synonym: "3-M syndrome" EXACT [DOID:0060241, MESH:C535314, Orphanet:2616] synonym: "3-MSBN" RELATED [GARD:0005667] synonym: "3M syndrome" RELATED [MESH:C535314] synonym: "3M1" NARROW ABBREVIATION [MESH:C535314] -synonym: "Dolichospondylic dysplasia" EXACT [Orphanet:2616] +synonym: "Dolichospondylic dysplasia" EXACT [DOID:0060241] synonym: "dolichospondylic dysplasia" EXACT [DOID:0060241] -synonym: "dwarfism with tall vertebrae" RELATED [OMIM:126950] -synonym: "gloomy face syndrome" EXACT [DOID:0060241, Orphanet:2616] +synonym: "dwarfism with tall vertebrae" RELATED [] +synonym: "gloomy face syndrome" EXACT [DOID:0060241] synonym: "gloomy face syndrome Yakut short stature syndrome, included" RELATED [MESH:C535314] -synonym: "Le Merrer syndrome" EXACT [DOID:0060241, Orphanet:2616] +synonym: "Le Merrer syndrome" EXACT [DOID:0060241] synonym: "Miller-McKusick-Malvaux syndrome" EXACT [DOID:0060241] -synonym: "Three M Syndrome" EXACT [NORD:1767] -synonym: "three M syndrome" EXACT [DOID:0060241, MESH:C535314] +synonym: "Three M Syndrome" EXACT [DOID:0060241, NORD:1767, OMIMPS:273750] +synonym: "three M syndrome" EXACT [DOID:0060241, MESH:C535314, OMIMPS:273750] synonym: "three M syndrome 1" NARROW [MESH:C535314] synonym: "three-M slender-boned nanism" RELATED [MESH:C535314] synonym: "Yakut short stature syndrome" EXACT [DOID:0060241, Orphanet:2616] @@ -151526,12 +151541,12 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93325"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dwarfism, cortical thickening of tubular bones and transient hypocalcemia" RELATED [GARD:0000083] -synonym: "dwarfism, cortical thickening of tubular bones, and transient hypocalcemia" RELATED [OMIM:127000] -synonym: "KCS2" RELATED ABBREVIATION [GARD:0000083, MONDO:Lexical, OMIM:127000] -synonym: "Kenny syndrome" BROAD [OMIM:127000] -synonym: "Kenny-Caffey syndrome type 2" EXACT [NCIT:C130993] +synonym: "dwarfism, cortical thickening of tubular bones, and transient hypocalcemia" RELATED [] +synonym: "KCS2" RELATED ABBREVIATION [GARD:0000083, MONDO:Lexical] +synonym: "Kenny syndrome" BROAD [] +synonym: "Kenny-Caffey syndrome type 2" EXACT [DOID:0080723, NCIT:C130993] synonym: "Kenny-Caffey syndrome, autosomal dominant" EXACT [GARD:0000083, MONDO:patterns/autosomal_dominant] -synonym: "Kenny-Caffey syndrome, type 2" RELATED [MONDO:Lexical, OMIM:127000] +synonym: "Kenny-Caffey syndrome, type 2" RELATED [MONDO:Lexical] xref: DOID:0080723 {source="MONDO:equivalentTo"} xref: GARD:83 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:93325", source="Orphanet:93325/attributed", source="Orphanet:93325/ntbt"} @@ -151557,7 +151572,7 @@ name: dwarfism, Levi type synonym: "dwarfism Levi type" RELATED [GARD:0006294] synonym: "dwarfism Levi's type" RELATED [GARD:0006294] synonym: "dwarfism, Levi type" EXACT [OMIM:127100] -synonym: "snub-nosed type of dwarfism" RELATED [OMIM:127100] +synonym: "snub-nosed type of dwarfism" RELATED [] xref: MEDGEN:338837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565081 {source="MONDO:equivalentTo"} xref: OMIM:127100 {source="MONDO:equivalentTo"} @@ -151569,7 +151584,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6294/dwarfis id: MONDO:0007480 name: dwarfism with stiff joints and ocular abnormalities synonym: "dwarfism with stiff joints and ocular abnormalities" EXACT [OMIM:127200] -synonym: "Moore-Federman syndrome" RELATED [OMIM:127200] +synonym: "Moore-Federman syndrome" RELATED [] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:82709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535724 {source="MONDO:equivalentTo"} @@ -151591,16 +151606,16 @@ subset: orphanet_rare {source="Orphanet:240"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DCo" RELATED [GARD:0003224] -synonym: "dyschondrosteosis" RELATED [GARD:0003224, OMIM:127300] +synonym: "dyschondrosteosis" RELATED [GARD:0003224] synonym: "Leri Weill dyschondrosteosis" EXACT [GARD:0003224] -synonym: "Leri-Weill dyschondrosteosis" EXACT CLINGEN_LABEL [GARD:0003224, MONDO:Lexical, OMIM:127300] -synonym: "Leri-Weill dyschondrosteosis, Pseudoautosomal dominant" EXACT [OMIM:127300, OMIM:genemap2] +synonym: "Leri-Weill dyschondrosteosis" EXACT CLINGEN_LABEL [DOID:0060847, GARD:0003224, MONDO:Lexical, NCIT:C126560, OMIM:127300] +synonym: "Leri-Weill dyschondrosteosis, Pseudoautosomal dominant" EXACT [] synonym: "Leri-Weill dyschondrostosis" EXACT [DECIPHER:58] -synonym: "Leri-Weill syndrome" EXACT [NCIT:C126560, Orphanet:240] +synonym: "Leri-Weill syndrome" EXACT [NCIT:C126560] synonym: "LWD" EXACT ABBREVIATION [DECIPHER:58, GARD:0003224, MONDO:Lexical, OMIM:127300] -synonym: "Léri-Weill dyschondrosteosis" EXACT [GARD:0003224] +synonym: "Léri-Weill dyschondrosteosis" EXACT [GARD:0003224, Orphanet:240] synonym: "Léri-Weill syndrome" EXACT [Orphanet:240] -synonym: "Madelung deformity" RELATED [OMIM:127300] +synonym: "Madelung deformity" RELATED [] xref: DECIPHER:58 {source="MONDO:equivalentTo"} xref: DOID:0060847 {source="MONDO:equivalentTo"} xref: GARD:3224 {source="MONDO:GARD"} @@ -151630,7 +151645,7 @@ subset: gard_rare {source="GARD:1994", source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:1765"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dyschondrosteosis and nephritis" RELATED [OMIM:127350] +synonym: "dyschondrosteosis and nephritis" RELATED [] synonym: "dyschondrosteosis nephritis" RELATED [GARD:0001994] synonym: "mesomelic shortening and hereditary nephritis" RELATED [GARD:0001994] xref: GARD:1994 {source="MONDO:GARD"} @@ -151657,14 +151672,14 @@ subset: orphanet_rare {source="Orphanet:41"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acropigmentation of Dohi" EXACT [Orphanet:41] -synonym: "DSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:127400] +synonym: "DSH" RELATED ABBREVIATION [MONDO:Lexical] synonym: "DSH1" EXACT ABBREVIATION [NCIT:C118435] -synonym: "dyschromatosis symmetrica hereditaria" EXACT [MONDO:Lexical, OMIM:127400] -synonym: "dyschromatosis symmetrica hereditaria 1" RELATED [OMIM:127400] +synonym: "dyschromatosis symmetrica hereditaria" EXACT [DOID:0060257, MONDO:Lexical, NCIT:C118435, OMIM:127400, Orphanet:41] +synonym: "dyschromatosis symmetrica hereditaria 1" RELATED [] synonym: "familial reticulate acropigmentation of Dohi" RELATED [GARD:0000334] synonym: "RAD" EXACT ABBREVIATION [NCIT:C118435] -synonym: "reticulate acropigmentation of Dohi" EXACT [DOID:0060257, OMIM:127400] -synonym: "symmetric dyschromatosis of the extremities" RELATED [OMIM:127400] +synonym: "reticulate acropigmentation of Dohi" EXACT [DOID:0060257, NCIT:C118435, OMIM:127400] +synonym: "symmetric dyschromatosis of the extremities" RELATED [] xref: DOID:0060257 {source="MONDO:equivalentTo"} xref: GARD:334 {source="MONDO:GARD"} xref: ICD10CM:L81.8 {source="Orphanet:41/attributed", source="Orphanet:41/ntbt", source="Orphanet:41"} @@ -151696,14 +151711,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: prototype_pattern subset: rare synonym: "autosomal dominant dyskeratosis congenita" RELATED [GARD:0006299] -synonym: "autosomal dominant dyskeratosis congenita 1" RELATED [DOID:0070014] +synonym: "autosomal dominant dyskeratosis congenita 1" RELATED [] synonym: "DKCA" RELATED ABBREVIATION [GARD:0006299] -synonym: "DKCA1" EXACT ABBREVIATION [DOID:0070014, MONDO:Lexical, OMIM:127550] +synonym: "DKCA1" EXACT ABBREVIATION [DOID:0070014, MONDO:Lexical, NCIT:C176921, OMIM:127550] synonym: "dyskeratosis congenita autosomal dominant" RELATED [GARD:0006299] synonym: "dyskeratosis congenita Scoggins type" RELATED [GARD:0006299] -synonym: "dyskeratosis congenita, autosomal dominant 1" EXACT [MONDO:Lexical, OMIM:127550] -synonym: "dyskeratosis congenita, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:127550] -synonym: "dyskeratosis congenita, Scoggins type" EXACT [DOID:0070014, OMIM:127550] +synonym: "dyskeratosis congenita, autosomal dominant 1" EXACT [MONDO:Lexical, NCIT:C176921, OMIM:127550] +synonym: "dyskeratosis congenita, autosomal dominant type 1" EXACT [MONDORULE:1] +synonym: "dyskeratosis congenita, Scoggins type" EXACT [DOID:0070014, NCIT:C176921, OMIM:127550] xref: DOID:0070014 {source="MONDO:equivalentTo"} xref: GARD:6299 {source="MONDO:GARD"} xref: MEDGEN:1645250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -151728,9 +151743,9 @@ subset: ordo_disorder {source="Orphanet:352657"} subset: orphanet_rare {source="Orphanet:352657"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Dkbi" RELATED [OMIM:127600] -synonym: "dyskeratosis, hereditary benign intraepithelial" RELATED [MONDO:Lexical, OMIM:127600] -synonym: "HBID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:127600, Orphanet:352657] +synonym: "Dkbi" RELATED [] +synonym: "dyskeratosis, hereditary benign intraepithelial" RELATED [MONDO:Lexical] +synonym: "HBID" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3940, OMIM:127600, Orphanet:352657] synonym: "hereditary benign corneal intraepithelial dyskeratosis" EXACT [Orphanet:352657] synonym: "Witkop-Von Sallmann disease" EXACT [NCIT:C3940] xref: GARD:17524 {source="MONDO:GARD"} @@ -151751,13 +151766,13 @@ id: MONDO:0007487 name: dyslexia, susceptibility to, 1 subset: predisposition synonym: "dyslexia, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:127700] -synonym: "dyslexia, susceptibility to, 4" RELATED [OMIM:127700] -synonym: "dyslexia, susceptibility to, 7" RELATED [OMIM:127700] -synonym: "dyslexia, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:127700] -synonym: "DYX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:127700] -synonym: "reading disability, specific, 1" RELATED [OMIM:127700] -synonym: "susceptibility to dyslexia 1" RELATED [OMIM:127700] -synonym: "Word-blindness, congenital" RELATED [OMIM:127700] +synonym: "dyslexia, susceptibility to, 4" RELATED [] +synonym: "dyslexia, susceptibility to, 7" RELATED [] +synonym: "dyslexia, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "DYX1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "reading disability, specific, 1" RELATED [] +synonym: "susceptibility to dyslexia 1" RELATED [] +synonym: "Word-blindness, congenital" RELATED [] xref: MEDGEN:338828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:127700 {source="MONDO:equivalentTo"} xref: UMLS:C1851967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338828"} @@ -151773,16 +151788,16 @@ def: "A progressive form of dementia characterized by the presence of protein de subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cortical Lewy body disease" EXACT [Orphanet:1648] -synonym: "dementia with Lewy bodies" EXACT [DOID:12217, ICD9CM:331.82, ISBN-13:978-1-259-64403-0] -synonym: "dementia, Lewy body" RELATED [MONDO:Lexical, OMIM:127750] -synonym: "diffuse Lewy body disease" RELATED [OMIM:127750, Orphanet:1648] -synonym: "diffuse Lewy body disease with gaze palsy" RELATED [OMIM:127750] -synonym: "DLB" EXACT ABBREVIATION [MONDO:Lexical, OMIM:127750, Orphanet:1648] -synonym: "Lewy body dementia" EXACT [OMIM:127750, Orphanet:1648] -synonym: "lewy body dementia, susceptibility to" EXACT [OMIM:127750, OMIM:genemap2] -synonym: "Lewy body disease" EXACT [DOID:12217] -synonym: "Lewy body variant of Alzheimer disease" RELATED [OMIM:127750] +synonym: "cortical Lewy body disease" EXACT [] +synonym: "dementia with Lewy bodies" EXACT [DOID:12217, ICD10CM:G31.83, ICD9CM:331.82, ISBN-13:978-1-259-64403-0] +synonym: "dementia, Lewy body" RELATED [MONDO:Lexical] +synonym: "diffuse Lewy body disease" RELATED [] +synonym: "diffuse Lewy body disease with gaze palsy" RELATED [] +synonym: "DLB" EXACT ABBREVIATION [MONDO:Lexical, OMIM:127750] +synonym: "Lewy body dementia" EXACT [DOID:12217, ICD10CM:G31.83, NCIT:C84826, OMIM:127750] +synonym: "lewy body dementia, susceptibility to" EXACT [] +synonym: "Lewy body disease" EXACT [DOID:12217, ICD10CM:G31.83, NCIT:C84826] +synonym: "Lewy body variant of Alzheimer disease" RELATED [] synonym: "Senile dementia of the Lewy body type" EXACT [DOID:12217] xref: DOID:12217 {source="MONDO:equivalentTo"} xref: EFO:0006792 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -151815,7 +151830,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1822"} subset: orphanet_rare {source="Orphanet:1822"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dysplasia epiphysealis hemimelica" EXACT [OMIM:127800] +synonym: "dysplasia epiphysealis hemimelica" EXACT [icd11.foundation:1995096940, OMIM:127800, Orphanet:1822] synonym: "Trevor disease" EXACT [OMIM:127800, Orphanet:1822] xref: GARD:2019 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:1822", source="Orphanet:1822/attributed", source="Orphanet:1822/ntbt"} @@ -151844,10 +151859,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:2767"} subset: orphanet_rare {source="Orphanet:2767"} subset: rare synonym: "dominant carpotarsal osteochondromatosis" RELATED [GARD:0001128] -synonym: "dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas" RELATED [OMIM:127820] +synonym: "dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas" RELATED [] synonym: "Maroteaux Le Merrer Bensahel syndrome" RELATED [GARD:0001128] synonym: "Maroteaux-Le Merrer-Bensahel syndrome" EXACT [Orphanet:2767] -synonym: "osteochondromatosis, dominant carpotarsal" RELATED [OMIM:127820] +synonym: "osteochondromatosis, dominant carpotarsal" RELATED [] xref: GARD:1128 {source="MONDO:GARD"} xref: ICD10CM:D16.9 {source="Orphanet:2767", source="Orphanet:2767/attributed", source="Orphanet:2767/ntbt"} xref: icd11.foundation:1406756925 {source="MONDO:equivalentTo"} @@ -151866,7 +151881,7 @@ id: MONDO:0007491 name: dystelephalangy synonym: "congenital bilateral metadiaphyseal acrodysplasia of the little finger" RELATED [GARD:0010059] synonym: "dystelephalangy" EXACT [OMIM:128000] -synonym: "Kirner deformity" RELATED [OMIM:128000] +synonym: "Kirner deformity" RELATED [] xref: MEDGEN:343690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538000 {source="MONDO:equivalentTo"} xref: OMIM:128000 {source="MONDO:equivalentTo"} @@ -151887,13 +151902,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dystonia 1" RELATED [GARD:0002027] synonym: "dystonia 1, torsion, Autosomal dominant" RELATED [MESH:C538005] -synonym: "dystonia 1, torsion, autosomal dominant" RELATED [GARD:0002027, MONDO:Lexical, OMIM:128100] +synonym: "dystonia 1, torsion, autosomal dominant" RELATED [GARD:0002027, MONDO:Lexical] synonym: "dystonia musculorum deformans" EXACT [DOID:0060730, Orphanet:256] -synonym: "dystonia musculorum deformans 1" RELATED [GARD:0002027, MESH:C538005, OMIM:128100] -synonym: "dystonia-1, torsion" EXACT [OMIM:128100, OMIM:genemap2] +synonym: "dystonia musculorum deformans 1" RELATED [GARD:0002027, MESH:C538005] +synonym: "dystonia-1, torsion" EXACT [] synonym: "DYT-TOR1A" EXACT [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "DYT-TOR1A dystonia" RELATED [GARD:0002027] -synonym: "DYT1" EXACT ABBREVIATION [Orphanet:256] +synonym: "DYT1" EXACT ABBREVIATION [OMIM:128100] synonym: "Dyt1" RELATED [MESH:C538005] synonym: "early onset primary dystonia" EXACT [NCIT:C116718] synonym: "early onset torsion dystonia" EXACT [GARD:0002027, MESH:C538005, NCIT:C116718] @@ -151905,15 +151920,15 @@ synonym: "early-onset primary dystonia" EXACT [Orphanet:256] synonym: "Early-onset torsion dystonia" RELATED [MESH:C538005] synonym: "early-onset torsion dystonia" EXACT [OMIM:128100, Orphanet:256] synonym: "EOTD" EXACT ABBREVIATION [GARD:0002027, MESH:C538005, Orphanet:256] -synonym: "idiopathic dystonia" EXACT [Orphanet:256] +synonym: "idiopathic dystonia" EXACT [] synonym: "idiopathic dystonia DYT1" RELATED [GARD:0002027] -synonym: "idiopathic torsion dystonia" RELATED [Orphanet:256] +synonym: "idiopathic torsion dystonia" RELATED [] synonym: "Oppenheim dystonia" EXACT [MESH:C538005, Orphanet:256] synonym: "Oppenheim's dystonia" EXACT [GARD:0002027, MESH:C538005, NCIT:C116718] synonym: "Primary torsion dystonia" RELATED [MESH:C538005] -synonym: "torsion dystonia 1" RELATED [DOID:0060730] +synonym: "torsion dystonia 1" RELATED [] synonym: "torsion dystonia 1, autosomal dominant" RELATED [MESH:C538005] -synonym: "torsion dystonia type 1" EXACT [DOID:0060730, MONDORULE:1] +synonym: "torsion dystonia type 1" EXACT [MONDORULE:1] xref: DOID:0060730 {source="MONDO:equivalentTo"} xref: GARD:2027 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="Orphanet:256/specific", source="DOID:0060730", source="Orphanet:256/e", source="Orphanet:256"} @@ -151944,14 +151959,14 @@ subset: orphanet_rare {source="Orphanet:98805"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant torsion dystonia-4" RELATED [GARD:0010138] -synonym: "dystonia 4, torsion, autosomal dominant" RELATED [MONDO:Lexical, OMIM:128101] -synonym: "dystonia musculorum deformans 4" RELATED [OMIM:128101] +synonym: "dystonia 4, torsion, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "dystonia musculorum deformans 4" RELATED [] synonym: "DYT4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:128101, Orphanet:98805] synonym: "hereditary whispering dysphonia" EXACT [Orphanet:98805] -synonym: "primary dystonia, DYT4 type" RELATED [Orphanet:98805] -synonym: "torsion dystonia type 4" EXACT [DOID:0090041, MONDORULE:1] +synonym: "primary dystonia, DYT4 type" RELATED [] +synonym: "torsion dystonia type 4" EXACT [MONDORULE:1] synonym: "whispering dysphonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] -synonym: "whispering dysphonia, hereditary" RELATED [OMIM:128101] +synonym: "whispering dysphonia, hereditary" RELATED [] xref: DOID:0090041 {source="MONDO:equivalentTo"} xref: GARD:10138 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="DOID:0090041", source="Orphanet:98805/attributed", source="Orphanet:98805/ntbt", source="Orphanet:98805"} @@ -151982,16 +151997,16 @@ subset: gard_rare {source="GARD:9817", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1702"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Dopa-responsive dystonia, autosomal dominant" EXACT [OMIM:128230] +synonym: "Dopa-responsive dystonia, autosomal dominant" EXACT [DOID:0090043, OMIM:128230] synonym: "Dopa-responsive dystonia; Segawa syndrome AD" RELATED [GARD:0012144] -synonym: "DRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:128230] -synonym: "dystonia 5" EXACT CLINGEN_LABEL [OMIM:128230] -synonym: "dystonia type 5" EXACT [DOID:0090043, MONDORULE:1] -synonym: "dystonia, DOPA-responsive" RELATED [MONDO:Lexical, OMIM:128230] -synonym: "dystonia, Dopa-responsive, autosomal dominant" EXACT [OMIM:128230] -synonym: "dystonia, DOPA-responsive, with or without hyperphenylalaninemia" EXACT [OMIM:128230, OMIM:genemap2] +synonym: "DRD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "dystonia 5" EXACT CLINGEN_LABEL [DOID:0090043, OMIM:128230] +synonym: "dystonia type 5" EXACT [MONDORULE:1] +synonym: "dystonia, DOPA-responsive" RELATED [MONDO:Lexical] +synonym: "dystonia, Dopa-responsive, autosomal dominant" EXACT [DOID:0090043, OMIM:128230] +synonym: "dystonia, DOPA-responsive, with or without hyperphenylalaninemia" EXACT [] synonym: "dystonia, progressive, with diurnal variation" EXACT [OMIM:128230] -synonym: "dystonia-Parkinsonism with diurnal fluctuation" EXACT [OMIM:128230] +synonym: "dystonia-Parkinsonism with diurnal fluctuation" EXACT [DOID:0090043, OMIM:128230] synonym: "DYT-GCH1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "GTP cyclohydrolase 1-deficient dopa-responsive dystonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "Segawa Syndrome" EXACT [NORD:1702] @@ -152026,14 +152041,14 @@ subset: orphanet_rare {source="Orphanet:71517"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ATP1A3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "dystonia 12" EXACT [MONDO:Lexical, OMIM:128235, Orphanet:71517] -synonym: "dystonia type 12" EXACT [DOID:0090056, MONDORULE:2, OMIM:128235] -synonym: "dystonia-12" EXACT [OMIM:128235, OMIM:genemap2] -synonym: "dystonia-Parkinsonism, rapid-onset" RELATED [OMIM:128235] +synonym: "dystonia 12" EXACT [DOID:0090056, MONDO:Lexical, NCIT:C157577, OMIM:128235, Orphanet:71517] +synonym: "dystonia type 12" EXACT [MONDORULE:2] +synonym: "dystonia-12" EXACT [] +synonym: "dystonia-Parkinsonism, rapid-onset" RELATED [] synonym: "dystonic disorder caused by mutation in ATP1A3" EXACT [MONDO:design_pattern] synonym: "DYT-ATP1A3" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] -synonym: "DYT12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:128235, Orphanet:71517] -synonym: "rapid-onset dystonia-parkinsonism" RELATED [Orphanet:71517] +synonym: "DYT12" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C157577, OMIM:128235, Orphanet:71517] +synonym: "rapid-onset dystonia-parkinsonism" RELATED [] synonym: "RDP" RELATED ABBREVIATION [GARD:0009628] xref: DOID:0090056 {source="MONDO:equivalentTo"} xref: GARD:9628 {source="MONDO:GARD"} @@ -152069,7 +152084,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007498 name: ear exostoses synonym: "ear exostoses" EXACT [OMIM:128300] -synonym: "exostoses of external auditory canal" RELATED [OMIM:128300] +synonym: "exostoses of external auditory canal" RELATED [] xref: MEDGEN:56363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:128300 {source="MONDO:equivalentTo"} xref: UMLS:C0155411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:56363"} @@ -152088,7 +152103,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007500 name: ear malformation subset: otar {source="MONDO:OTAR"} -synonym: "cup Ear" RELATED [OMIM:128600] +synonym: "cup Ear" RELATED [] synonym: "ear malformation" EXACT [OMIM:128600] xref: ICD10CM:Q10-Q18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:744.29 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -152102,8 +152117,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007501 name: preauricular fistulae, congenital -synonym: "Ear pits" RELATED [OMIM:128700] -synonym: "Pafc" RELATED [OMIM:128700] +synonym: "Ear pits" RELATED [] +synonym: "Pafc" RELATED [] synonym: "preauricular fistulae, congenital" EXACT [OMIM:128700] xref: MEDGEN:154283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563015 {source="MONDO:equivalentTo"} @@ -152117,8 +152132,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007502 name: ear pits, posterior helical synonym: "ear pits, posterior helical" EXACT [OMIM:128710] -synonym: "earlobe Indentations, posterior" RELATED [OMIM:128710] -synonym: "posterior helical Ear pits" RELATED [OMIM:128710] +synonym: "earlobe Indentations, posterior" RELATED [] +synonym: "posterior helical Ear pits" RELATED [] xref: MEDGEN:342119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:128710 {source="MONDO:equivalentTo"} xref: UMLS:C1851900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:342119"} @@ -152147,7 +152162,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2405"} subset: orphanet_rare {source="Orphanet:2405"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "earlobes, thickened, with conductive deafness from incudostapedial abnormalities" RELATED [OMIM:128980] +synonym: "earlobes, thickened, with conductive deafness from incudostapedial abnormalities" RELATED [] synonym: "Escher Hirt syndrome" RELATED [GARD:0002195] synonym: "Escher-Hirt syndrome" EXACT [Orphanet:2405] xref: GARD:2195 {source="MONDO:GARD"} @@ -152162,7 +152177,7 @@ is_a: MONDO:0003847 {source="Orphanet:2405/inferred"} ! hereditary disease [Term] id: MONDO:0007505 name: earring holes, natural -synonym: "earlobe sinuses" RELATED [OMIM:129000] +synonym: "earlobe sinuses" RELATED [] synonym: "earring holes, natural" EXACT [OMIM:129000] xref: MEDGEN:338809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:129000 {source="MONDO:equivalentTo"} @@ -152172,8 +152187,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007506 name: obsoleted echo virus 11 sensitivity -synonym: "E11S" RELATED ABBREVIATION [MESH:C565071, MONDO:Lexical, OMIM:129150] -synonym: "echo virus 11 sensitivity" EXACT [MONDO:Lexical, OMIM:129150] +synonym: "E11S" RELATED ABBREVIATION [MESH:C565071, MONDO:Lexical] +synonym: "echo virus 11 sensitivity" EXACT [MONDO:Lexical] xref: MESH:C565071 {source="MONDO:obsoleteEquivalent"} xref: OMIM:129150 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -152192,10 +152207,10 @@ subset: rare synonym: "absence of dermatoglyphics congenital milia" RELATED [GARD:0002336] synonym: "absence of dermatoglyphics-congenital milia syndrome" EXACT [Orphanet:1658] synonym: "absence of fingerprints congenital milia" RELATED [GARD:0002336] -synonym: "adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities" RELATED [GARD:0002336, OMIM:129200] +synonym: "adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities" RELATED [GARD:0002336] synonym: "Baird syndrome" EXACT [GARD:0002336, Orphanet:1658] -synonym: "Basan syndrome" RELATED [GARD:0002336, OMIM:129200] -synonym: "ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease" RELATED [OMIM:129200] +synonym: "Basan syndrome" RELATED [GARD:0002336] +synonym: "ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease" RELATED [] xref: DOID:0080725 {source="MONDO:equivalentTo"} xref: GARD:2336 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:1658/attributed", source="Orphanet:1658/ntbt", source="Orphanet:1658"} @@ -152224,14 +152239,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare subset: speculative synonym: "anhidrotic ectodermal dysplasia with cleft lip/palate" EXACT [DOID:0060330] -synonym: "cleft lip with or without cleft palate, nonsyndromic, 8" RELATED [OMIM:129400] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 8" RELATED [] synonym: "ectodermal dysplasia, anhidrotic, with cleft lip-palate" RELATED [MESH:C535289] -synonym: "ectodermal dysplasia, anhidrotic, with cleft Lip/palate" RELATED [OMIM:129400] +synonym: "ectodermal dysplasia, anhidrotic, with cleft Lip/palate" RELATED [] synonym: "OFC8, included" RELATED [MESH:C535289] -synonym: "orofacial cleft 8" RELATED [OMIM:129400] +synonym: "orofacial cleft 8" RELATED [] synonym: "Rapp-Hodgkin ectodermal dysplasia syndrome" RELATED [GARD:0005690] -synonym: "Rapp-Hodgkin syndrome" EXACT [MONDO:Lexical, OMIM:129400] -synonym: "RHS" RELATED ABBREVIATION [MESH:C535289, MONDO:Lexical, OMIM:129400] +synonym: "Rapp-Hodgkin syndrome" EXACT [DOID:0060330, icd11.foundation:1455333054, MONDO:Lexical, OMIM:129400] +synonym: "RHS" RELATED ABBREVIATION [MESH:C535289, MONDO:Lexical] xref: DOID:0060330 {source="MONDO:equivalentTo"} xref: GARD:5690 {source="MONDO:GARD"} xref: icd11.foundation:1455333054 {source="MONDO:equivalentTo"} @@ -152259,10 +152274,10 @@ subset: gard_rare {source="GARD:18591", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ECTD10A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:129490] -synonym: "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" EXACT [MONDO:Lexical, OMIM:129490] +synonym: "ECTD10A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" EXACT [DOID:0111663, MONDO:Lexical, OMIM:129490] synonym: "ectodermal dysplasia hypohidrotic autosomal dominant" RELATED [GARD:0002048] -synonym: "ectodermal dysplasia, hypohidrotic, autosomal dominant" RELATED [OMIM:129490] +synonym: "ectodermal dysplasia, hypohidrotic, autosomal dominant" RELATED [] synonym: "hypohidrotic ectodermal dysplasia autosomal dominant" RELATED [GARD:0002048] xref: DOID:0111663 {source="MONDO:equivalentTo"} xref: GARD:18591 {source="MONDO:GARD"} @@ -152289,15 +152304,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alopecia, dysplastic nails, palmar and plantar hyperkeratosis" RELATED [GARD:0004253] synonym: "autosomal dominant hidrotic ectodermal dysplasia" RELATED [GARD:0002056] -synonym: "Clouston hidrotic ectodermal dysplasia" RELATED [OMIM:129500] -synonym: "Clouston syndrome" EXACT CLINGEN_LABEL [OMIM:129500, Orphanet:189] +synonym: "Clouston hidrotic ectodermal dysplasia" RELATED [] +synonym: "Clouston syndrome" EXACT CLINGEN_LABEL [DOID:14693, OMIM:129500, Orphanet:189] synonym: "Clouston's hidrotic ectodermal dysplasia" EXACT [DOID:14693] synonym: "Clouston's syndrome" EXACT [DOID:14693] -synonym: "ectodermal dysplasia 2, Clouston type" RELATED [OMIM:129500] +synonym: "ectodermal dysplasia 2, Clouston type" RELATED [] synonym: "ectodermal dysplasia, hidrotic" RELATED [GARD:0002056] -synonym: "ectodermal dysplasia, hidrotic, 2" RELATED [OMIM:129500] -synonym: "ectodermal dysplasia, hidrotic, 2, formerly" RELATED [OMIM:129500] -synonym: "ectodermal dysplasia, hidrotic, autosomal dominant" RELATED [OMIM:129500] +synonym: "ectodermal dysplasia, hidrotic, 2" RELATED [] +synonym: "ectodermal dysplasia, hidrotic, 2, formerly" RELATED [] +synonym: "ectodermal dysplasia, hidrotic, autosomal dominant" RELATED [] synonym: "ED2" RELATED ABBREVIATION [GARD:0002056] synonym: "hidrotic ectodermal dysplasia" EXACT [DOID:14693, Orphanet:189] synonym: "hidrotic ectodermal dysplasia syndrome" EXACT [DOID:14693] @@ -152332,7 +152347,7 @@ subset: orphanet_rare {source="Orphanet:1818"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ectodermal dysplasia trichoodontoonychial type" RELATED [GARD:0002055] -synonym: "ectodermal dysplasia, trichoodontoonychial type" EXACT [OMIM:129510] +synonym: "ectodermal dysplasia, trichoodontoonychial type" EXACT [OMIM:129510, Orphanet:1818] xref: GARD:2055 {source="MONDO:GARD"} xref: ICD10CM:Q82.4 {source="Orphanet:1818", source="Orphanet:1818/attributed", source="Orphanet:1818/ntbt"} xref: MEDGEN:338798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -152358,7 +152373,7 @@ is_a: MONDO:0003847 {source="MESH:C565067/inferred"} ! hereditary disease id: MONDO:0007513 name: ectodermal dysplasia with adrenal cyst synonym: "ectodermal dysplasia with adrenal cyst" EXACT [OMIM:129550] -synonym: "Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome" EXACT [Orphanet:3391] +synonym: "Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome" EXACT [] xref: MEDGEN:342106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538015 {source="MONDO:equivalentTo"} xref: OMIM:129550 {source="MONDO:equivalentTo"} @@ -152372,10 +152387,10 @@ name: ectopia lentis 1, isolated, autosomal dominant def: "Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15062", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant isolated ectopia lentis 1" RELATED [DOID:0111150] +synonym: "autosomal dominant isolated ectopia lentis 1" RELATED [] synonym: "ECTOL1" EXACT ABBREVIATION [DOID:0111150, MONDO:Lexical, OMIM:129600] synonym: "ectopia lentis 1, isolated, autosomal dominant" EXACT [MONDO:Lexical, OMIM:129600] -synonym: "ectopia lentis, familial" EXACT [OMIM:129600, OMIM:genemap2] +synonym: "ectopia lentis, familial" EXACT [] synonym: "FBN1 isolated ectopia lentis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated ectopia lentis caused by mutation in FBN1" EXACT [MONDO:design_pattern] xref: DOID:0111150 {source="MONDO:equivalentTo"} @@ -152394,7 +152409,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007515 name: ectopia pupillae synonym: "congenital eye malformation in which the pupils are displaced from their normal central position" RELATED [GARD:0008490] -synonym: "ectopia pupillae" EXACT [MONDO:ambiguous, OMIM:129750] +synonym: "ectopia pupillae" EXACT [icd11.foundation:70138444, MONDO:ambiguous, OMIM:129750] synonym: "ectopia pupillae (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "familial ectopic pupil" RELATED [GARD:0008490] xref: HP:0009918 {source="MONDO:otherHierarchy"} @@ -152411,8 +152426,8 @@ property_value: IAO:0000589 "ectopia pupillae (disease)" xsd:string id: MONDO:0007516 name: ectrodactyly and ectodermal dysplasia without cleft lip/palate synonym: "ectrodactyly and ectodermal dysplasia without cleft lip/palate" EXACT [OMIM:129810] -synonym: "ectrodactyly-ectodermal dysplasia without clefting syndrome" EXACT [Orphanet:1888] -synonym: "EEC syndrome without cleft Lip/palate" RELATED [OMIM:129810] +synonym: "ectrodactyly-ectodermal dysplasia without clefting syndrome" EXACT [] +synonym: "EEC syndrome without cleft Lip/palate" RELATED [] xref: MEDGEN:377536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565065 {source="MONDO:equivalentTo"} xref: OMIM:129810 {source="MONDO:equivalentTo"} @@ -152423,7 +152438,7 @@ is_a: MONDO:0003847 {source="MESH:C565065/inferred"} ! hereditary disease [Term] id: MONDO:0007517 name: ectrodactyly-cleft palate syndrome -synonym: "Ecp syndrome" RELATED [OMIM:129830] +synonym: "Ecp syndrome" RELATED [] synonym: "ectrodactyly-cleft palate syndrome" EXACT [OMIM:129830] xref: MEDGEN:342105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565064 {source="MONDO:equivalentTo"} @@ -152453,7 +152468,7 @@ subset: ordo_disorder {source="Orphanet:1895"} subset: ordo_malformation_syndrome {source="Orphanet:1895"} subset: orphanet_rare {source="Orphanet:1895"} subset: rare -synonym: "Edinburgh malformation syndrome" EXACT [OMIM:129850] +synonym: "Edinburgh malformation syndrome" EXACT [OMIM:129850, Orphanet:1895] synonym: "typus Edinburgensis" EXACT [Orphanet:1895] xref: GARD:2074 {source="MONDO:GARD"} xref: ICD10CM:Q95.2 {source="Orphanet:1895/attributed", source="Orphanet:1895/ntbt", source="Orphanet:1895"} @@ -152473,11 +152488,11 @@ def: "An EEC syndrome characterized by autosomal dominant inheritance that has m subset: gard_rare {source="GARD:15063", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1" EXACT [DOID:0060784, MONDORULE:1] -synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1" RELATED [MONDO:Lexical, OMIM:129900] -synonym: "EEC" RELATED ABBREVIATION [OMIM:129900] +synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1" EXACT [MONDORULE:1] +synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1" RELATED [MONDO:Lexical] +synonym: "EEC" RELATED ABBREVIATION [] synonym: "EEC syndrome 1" EXACT [DOID:0060784, OMIM:129900] -synonym: "EEC syndrome-1" EXACT [OMIM:129900, OMIM:genemap2] +synonym: "EEC syndrome-1" EXACT [] synonym: "EEC1" EXACT ABBREVIATION [DOID:0060784, MONDO:Lexical, OMIM:129900] xref: DOID:0060784 {source="MONDO:equivalentTo"} xref: GARD:15063 {source="MONDO:GARD"} @@ -152495,8 +152510,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007521 name: obsolete egasyn comment: This is a gene, not a disease. -synonym: "egasyn" EXACT [OMIM:129905] -synonym: "esterase 22" RELATED [OMIM:129905] +synonym: "egasyn" EXACT [] +synonym: "esterase 22" RELATED [] xref: OMIM:129905 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1452" xsd:anyURI is_obsolete: true @@ -152514,29 +152529,29 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "classic Ehlers-Danlos syndrome" RELATED [GARD:0002088] synonym: "classical Ehlers-Danlos syndrome" RELATED [GARD:0002088] -synonym: "EDS I" RELATED DEPRECATED [OMIM:130000] -synonym: "EDS I, formerly" RELATED [OMIM:130000] -synonym: "EDS II" RELATED DEPRECATED [OMIM:130000] -synonym: "EDS II, formerly" RELATED [OMIM:130000] -synonym: "EDS, classic type" EXACT [Orphanet:287] -synonym: "Ehlers Danlos syndrome, mild classic type" RELATED [OMIM:130000] -synonym: "Ehlers Danlos syndrome, mild classic type, formerly" RELATED [OMIM:130000] -synonym: "Ehlers Danlos syndrome, mitis type" RELATED [OMIM:130000] -synonym: "Ehlers Danlos syndrome, mitis type, formerly" RELATED [OMIM:130000] +synonym: "EDS I" RELATED DEPRECATED [] +synonym: "EDS I, formerly" RELATED [] +synonym: "EDS II" RELATED DEPRECATED [] +synonym: "EDS II, formerly" RELATED [] +synonym: "EDS, classic type" EXACT [] +synonym: "Ehlers Danlos syndrome, mild classic type" RELATED [] +synonym: "Ehlers Danlos syndrome, mild classic type, formerly" RELATED [] +synonym: "Ehlers Danlos syndrome, mitis type" RELATED [] +synonym: "Ehlers Danlos syndrome, mitis type, formerly" RELATED [] synonym: "Ehlers-Danlos syndrome classic type" EXACT [] synonym: "Ehlers-Danlos syndrome classical type" RELATED [] synonym: "Ehlers-Danlos syndrome type 1 (formerly)" RELATED DEPRECATED [GARD:0002088] -synonym: "Ehlers-Danlos syndrome type 2" RELATED DEPRECATED [OMIM:130000] +synonym: "Ehlers-Danlos syndrome type 2" RELATED DEPRECATED [] synonym: "Ehlers-Danlos syndrome type 2 (formerly)" RELATED DEPRECATED [GARD:0002088] -synonym: "Ehlers-Danlos syndrome, classic type" EXACT CLINGEN_LABEL [OMIM:130000] -synonym: "Ehlers-Danlos syndrome, gravis type" RELATED [OMIM:130000] -synonym: "Ehlers-Danlos syndrome, gravis type, formerly" RELATED [OMIM:130000] -synonym: "Ehlers-Danlos syndrome, severe classic type" RELATED [OMIM:130000] -synonym: "Ehlers-Danlos syndrome, severe classic type, formerly" RELATED [OMIM:130000] -synonym: "Ehlers-Danlos syndrome, type I" RELATED DEPRECATED [OMIM:130000] -synonym: "Ehlers-Danlos syndrome, type I, formerly" RELATED [OMIM:130000] -synonym: "Ehlers-Danlos syndrome, type II" RELATED DEPRECATED [OMIM:130000] -synonym: "Ehlers-Danlos syndrome, type II, formerly" RELATED [OMIM:130000] +synonym: "Ehlers-Danlos syndrome, classic type" EXACT CLINGEN_LABEL [] +synonym: "Ehlers-Danlos syndrome, gravis type" RELATED [] +synonym: "Ehlers-Danlos syndrome, gravis type, formerly" RELATED [] +synonym: "Ehlers-Danlos syndrome, severe classic type" RELATED [] +synonym: "Ehlers-Danlos syndrome, severe classic type, formerly" RELATED [] +synonym: "Ehlers-Danlos syndrome, type I" RELATED DEPRECATED [] +synonym: "Ehlers-Danlos syndrome, type I, formerly" RELATED [] +synonym: "Ehlers-Danlos syndrome, type II" RELATED DEPRECATED [] +synonym: "Ehlers-Danlos syndrome, type II, formerly" RELATED [] xref: GARD:2088 {source="MONDO:GARD"} xref: ICD10CM:Q79.6 {source="Orphanet:287/attributed", source="Orphanet:287/ntbt", source="Orphanet:287"} xref: MEDGEN:909864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -152561,19 +152576,19 @@ subset: ordo_disorder {source="Orphanet:285"} subset: orphanet_rare {source="Orphanet:285"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "benign hypermobility syndrome" RELATED [OMIM:130020] -synonym: "EDS 3" RELATED [OMIM:130020] +synonym: "benign hypermobility syndrome" RELATED [] +synonym: "EDS 3" RELATED [] synonym: "EDS III" EXACT [Orphanet:285] synonym: "EDS3 (formerly)" RELATED DEPRECATED [GARD:0002081] synonym: "EDSHMB" EXACT ABBREVIATION [OMIM:130020] synonym: "Ehlers-Danlos syndrome type 3" EXACT [Orphanet:285] synonym: "Ehlers-Danlos syndrome type 3 (formerly)" EXACT [GARD:0002081] -synonym: "Ehlers-Danlos syndrome, hypermobile type" EXACT [Orphanet:285] +synonym: "Ehlers-Danlos syndrome, hypermobile type" EXACT [] synonym: "Ehlers-Danlos syndrome, hypermobility type" EXACT [OMIM:130020] -synonym: "Ehlers-Danlos syndrome, type 3" EXACT [OMIM:130020] +synonym: "Ehlers-Danlos syndrome, type 3" EXACT [DOID:14757, OMIM:130020] synonym: "Ehlers-Danlos syndrome, type III" EXACT [NCIT:C125698] synonym: "hEDS" RELATED [GARD:0002081] -synonym: "HT-EDS" EXACT [Orphanet:285] +synonym: "HT-EDS" EXACT [] synonym: "hypermobile EDS" RELATED [GARD:0002081] synonym: "hypermobile Ehlers-Danlos syndrome" RELATED [GARD:0002081] xref: DOID:14757 {source="MONDO:equivalentTo"} @@ -152598,14 +152613,14 @@ def: "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "autosomal dominant Ehlers-Danlos syndrome, vascular type" EXACT CLINGEN_LABEL [] -synonym: "autosomal dominant type IV Ehlers-Danlos syndrome" RELATED [DOID:14756] -synonym: "EDS 4" BROAD [OMIM:130050] -synonym: "EDSVASC" RELATED ABBREVIATION [OMIM:130050] -synonym: "Ehlers-Danlos syndrome, arterial type" RELATED [OMIM:130050] -synonym: "Ehlers-Danlos syndrome, Ecchymotic type" RELATED [OMIM:130050] -synonym: "Ehlers-Danlos syndrome, sack-Barabas type" RELATED [OMIM:130050] +synonym: "autosomal dominant type IV Ehlers-Danlos syndrome" RELATED [] +synonym: "EDS 4" BROAD [] +synonym: "EDSVASC" RELATED ABBREVIATION [] +synonym: "Ehlers-Danlos syndrome, arterial type" RELATED [] +synonym: "Ehlers-Danlos syndrome, Ecchymotic type" RELATED [] +synonym: "Ehlers-Danlos syndrome, sack-Barabas type" RELATED [] synonym: "Ehlers-Danlos syndrome, type IV, autosomal dominant" EXACT [OMIM:130050] -synonym: "Ehlers-Danlos syndrome, vascular type" BROAD [OMIM:130050] +synonym: "Ehlers-Danlos syndrome, vascular type" BROAD [] synonym: "Ehlers-Danlos syndrome, vascular type, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:14756 {source="MONDO:equivalentTo"} xref: MEDGEN:541286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -152632,20 +152647,20 @@ subset: rare synonym: "AEDS" RELATED ABBREVIATION [GARD:0002084] synonym: "arthrochalasia EDS" RELATED [GARD:0002084] synonym: "arthrochalasia Ehlers-Danlos syndrome" RELATED [GARD:0002084] -synonym: "arthrochalasis multiplex congenita" RELATED [GARD:0002084, MESH:C562625, OMIM:130060] -synonym: "EDS 7A" NARROW [OMIM:130060] -synonym: "EDS 7B" NARROW [OMIM:130060] +synonym: "arthrochalasis multiplex congenita" RELATED [GARD:0002084, MESH:C562625] +synonym: "EDS 7A" NARROW [] +synonym: "EDS 7B" NARROW [] synonym: "EDS VII" EXACT [Orphanet:1899] -synonym: "EDS VII, mutant procollagen type" RELATED [OMIM:130060] +synonym: "EDS VII, mutant procollagen type" RELATED [] synonym: "EDS7A (formerly)" RELATED DEPRECATED [GARD:0002084] -synonym: "EDSARTH1" RELATED ABBREVIATION [OMIM:130060] +synonym: "EDSARTH1" RELATED ABBREVIATION [] synonym: "Ehlers-Danlos syndrome type 7" EXACT [Orphanet:1899] synonym: "Ehlers-Danlos syndrome type 7A (formerly)" RELATED DEPRECATED [GARD:0002084] -synonym: "Ehlers-Danlos syndrome, arthrochalasia type" EXACT [GARD:0002084, MESH:C562625, OMIM:130060, Orphanet:1899] -synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 1" RELATED [OMIM:130060] +synonym: "Ehlers-Danlos syndrome, arthrochalasia type" EXACT [GARD:0002084, MESH:C562625, Orphanet:1899] +synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 1" RELATED [] synonym: "Ehlers-Danlos syndrome, type VII" EXACT [NCIT:C125701] -synonym: "Ehlers-Danlos syndrome, type VII, autosomal dominant" RELATED [OMIM:130060] -synonym: "Ehlers-Danlos syndrome, type VIIA, autosomal dominant" RELATED [OMIM:130060] +synonym: "Ehlers-Danlos syndrome, type VII, autosomal dominant" RELATED [] +synonym: "Ehlers-Danlos syndrome, type VIIA, autosomal dominant" RELATED [] xref: DOID:0080727 {source="MONDO:equivalentTo"} xref: GARD:2084 {source="MONDO:GARD"} xref: ICD10CM:Q79.6 {source="Orphanet:1899", source="Orphanet:1899/attributed", source="Orphanet:1899/ntbt"} @@ -152674,27 +152689,27 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:75496"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "B4GALT7-CDG" EXACT [Orphanet:75496] -synonym: "defective biosynthesis of proteodermatan sulfate" EXACT [DOID:0050802, Orphanet:75496] +synonym: "B4GALT7-CDG" EXACT [] +synonym: "defective biosynthesis of proteodermatan sulfate" EXACT [] synonym: "defective biosynthesis of proteodermatan sulphate" EXACT OMO:0003005 [] -synonym: "dermatan sulfate proteoglycan" NARROW [OMIM:130070] +synonym: "dermatan sulfate proteoglycan" NARROW [] synonym: "dermatan sulphate proteoglycan" NARROW OMO:0003005 [] -synonym: "EDS, progeroid type" EXACT [Orphanet:75496] -synonym: "EDSSPD1" NARROW ABBREVIATION [OMIM:130070] -synonym: "Ehlers-Danlos syndrome progeroid type" EXACT [Orphanet:75496] -synonym: "Ehlers-Danlos syndrome with short stature and limb anomalies" NARROW [OMIM:130070] -synonym: "Ehlers-Danlos syndrome, progeroid type" RELATED [Orphanet:75496] +synonym: "EDS, progeroid type" EXACT [] +synonym: "EDSSPD1" NARROW ABBREVIATION [] +synonym: "Ehlers-Danlos syndrome progeroid type" EXACT [DOID:0050802] +synonym: "Ehlers-Danlos syndrome with short stature and limb anomalies" NARROW [] +synonym: "Ehlers-Danlos syndrome, progeroid type" RELATED [] synonym: "Ehlers-Danlos syndrome, progeroid type (former)" RELATED [GARD:0009991] -synonym: "Ehlers-Danlos syndrome, progeroid type, 2" NARROW EXCLUDE [DOID:0050802] -synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 1" NARROW [OMIM:130070] -synonym: "galactosyltransferase 1 deficiency" NARROW [OMIM:130070] -synonym: "galactosyltransferase I deficiency" EXACT [Orphanet:75496] -synonym: "PDS" EXACT ABBREVIATION [Orphanet:75496] -synonym: "Pds, defective biosynthesis of" NARROW [OMIM:130070] -synonym: "proteodermatan sulfate, defective biosynthesis of" NARROW [OMIM:130070] +synonym: "Ehlers-Danlos syndrome, progeroid type, 2" NARROW EXCLUDE [] +synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 1" NARROW [] +synonym: "galactosyltransferase 1 deficiency" NARROW [] +synonym: "galactosyltransferase I deficiency" EXACT [] +synonym: "PDS" EXACT ABBREVIATION [] +synonym: "Pds, defective biosynthesis of" NARROW [] +synonym: "proteodermatan sulfate, defective biosynthesis of" NARROW [] synonym: "spondylodysplastic Ehlers-Danlos syndrome" RELATED [GARD:0009991] -synonym: "XGPT deficiency" NARROW [DOID:0050802, OMIM:130070, Orphanet:75496] -synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" NARROW [DOID:0050802, OMIM:130070, Orphanet:75496] +synonym: "XGPT deficiency" NARROW [] +synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" NARROW [] xref: DOID:0050802 {source="MONDO:equivalentTo"} xref: GARD:9991 {source="MONDO:GARD"} xref: ICD10CM:Q79.6 {source="Orphanet:75496/attributed", source="Orphanet:75496/ntbt", source="Orphanet:75496"} @@ -152719,17 +152734,17 @@ subset: ordo_disorder {source="Orphanet:75392"} subset: orphanet_rare {source="Orphanet:75392"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EDS 8" RELATED [OMIM:130080] +synonym: "EDS 8" RELATED [] synonym: "EDS VIII" EXACT [Orphanet:75392] synonym: "EDS VIII (formerly)" RELATED [GARD:0012474] -synonym: "EDS8" RELATED ABBREVIATION [OMIM:130080] +synonym: "EDS8" RELATED ABBREVIATION [] synonym: "EDS8 (formerly)" RELATED [GARD:0012474] -synonym: "Ehlers-Danlos syndrome type 8" EXACT [Orphanet:75392] +synonym: "Ehlers-Danlos syndrome type 8" EXACT [icd11.foundation:893527307, Orphanet:75392] synonym: "Ehlers-Danlos syndrome type 8 (formerly)" RELATED [GARD:0012474] -synonym: "Ehlers-Danlos syndrome, periodontitis type" EXACT [OMIM:130080] -synonym: "Ehlers-Danlos syndrome, periodontosis type" RELATED [OMIM:130080] -synonym: "Ehlers-Danlos syndrome, type 8" RELATED [OMIM:130080] -synonym: "Ehlers-Danlos syndrome, type VIII" RELATED [OMIM:130080] +synonym: "Ehlers-Danlos syndrome, periodontitis type" EXACT [icd11.foundation:893527307, Orphanet:75392] +synonym: "Ehlers-Danlos syndrome, periodontosis type" RELATED [] +synonym: "Ehlers-Danlos syndrome, type 8" RELATED [] +synonym: "Ehlers-Danlos syndrome, type VIII" RELATED [] synonym: "Ehlers-Danlos syndrome, type VIII (formerly)" RELATED [GARD:0012474] synonym: "pEDS" RELATED [GARD:0012474] synonym: "periodontal EDS" RELATED [GARD:0012474] @@ -152749,9 +152764,9 @@ id: MONDO:0007528 name: Ehlers-Danlos syndrome, autosomal dominant, type unspecified subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "EDS, unspecified type" RELATED [OMIM:130090] +synonym: "EDS, unspecified type" RELATED [] synonym: "Ehlers-Danlos syndrome, autosomal dominant, type unspecified" EXACT [OMIM:130090] -synonym: "Ehlers-Danlos syndrome, Friedman-Harrod type" RELATED [OMIM:130090] +synonym: "Ehlers-Danlos syndrome, Friedman-Harrod type" RELATED [] xref: MEDGEN:65083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562424 {source="MONDO:equivalentTo"} xref: OMIM:130090 {source="MONDO:equivalentTo"} @@ -152767,10 +152782,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:79148"} subset: orphanet_rare {source="Orphanet:79148"} subset: rare -synonym: "elastoma Intrapapillare perforans verruciformis" RELATED [OMIM:130100] -synonym: "elastosis perforans serpiginosa" EXACT [MONDO:Lexical, OMIM:130100] -synonym: "eps" RELATED [MONDO:Lexical, OMIM:130100] -synonym: "Miescher elastoma" RELATED [OMIM:130100] +synonym: "elastoma Intrapapillare perforans verruciformis" RELATED [] +synonym: "elastosis perforans serpiginosa" EXACT [ICD10CM:L87.2, icd11.foundation:1430012917, MONDO:Lexical, OMIM:130100, Orphanet:79148] +synonym: "eps" RELATED [MONDO:Lexical] +synonym: "Miescher elastoma" RELATED [] xref: GARD:10103 {source="MONDO:GARD"} xref: ICD10CM:L87.2 {source="MONDO:equivalentTo", source="Orphanet:79148/ntbt", source="Orphanet:79148"} xref: icd11.foundation:1430012917 {source="MONDO:equivalentTo"} @@ -152809,7 +152824,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007532 name: obsolete Electroencephalographic peculiarity: occipital slow beta waves comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "Electroencephalographic peculiarity: occipital slow beta waves" EXACT [OMIM:130400] +synonym: "Electroencephalographic peculiarity: occipital slow beta waves" EXACT [] xref: OMIM:130400 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -152823,11 +152838,11 @@ subset: gard_rare {source="GARD:15064", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:130600] +synonym: "EL2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "elliptocytosis 2" EXACT [MONDO:Lexical, OMIM:130600] -synonym: "elliptocytosis type 2" EXACT [MONDORULE:1, OMIM:130600] -synonym: "elliptocytosis, Rhesus-unlinked type" RELATED [OMIM:130600] -synonym: "elliptocytosis-2" EXACT [OMIM:130600, OMIM:genemap2] +synonym: "elliptocytosis type 2" EXACT [MONDORULE:1] +synonym: "elliptocytosis, Rhesus-unlinked type" RELATED [] +synonym: "elliptocytosis-2" EXACT [] synonym: "hereditary elliptocytosis caused by mutation in SPTA1" EXACT [MONDO:design_pattern] synonym: "SPTA1 hereditary elliptocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15064 {source="MONDO:GARD"} @@ -152853,12 +152868,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:116"} subset: orphanet_rare {source="Orphanet:116"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Beckwith-Wiedemann syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C34415, OMIM:130650] -synonym: "Beckwith-Wiedemann syndrome chromosome region" RELATED [OMIM:130650] +synonym: "Beckwith-Wiedemann syndrome" EXACT CLINGEN_LABEL [DOID:5572, icd11.foundation:803086260, MONDO:Lexical, NCIT:C34415, OMIM:130650, Orphanet:116] +synonym: "Beckwith-Wiedemann syndrome chromosome region" RELATED [] synonym: "BWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:130650, Orphanet:116] -synonym: "EMG syndrome" RELATED [OMIM:130650] +synonym: "EMG syndrome" RELATED [] synonym: "exomphalos macroglossia gigantism syndrome" RELATED [GARD:0003343] -synonym: "exomphalos-macroglossia-gigantism syndrome" EXACT [OMIM:130650, Orphanet:116] +synonym: "exomphalos-macroglossia-gigantism syndrome" EXACT [icd11.foundation:803086260, OMIM:130650, Orphanet:116] synonym: "Wiedemann-Beckwith syndrome" EXACT [OMIM:130650, Orphanet:116] synonym: "Wiedemann-Beckwith syndrome (WBS)" RELATED [GARD:0003343] xref: DOID:5572 {source="MONDO:equivalentTo"} @@ -152909,7 +152924,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CLE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:130710] synonym: "congenital lobar hyperinflation" EXACT [Orphanet:1928] -synonym: "Emphysema, Congenital Lobar" EXACT [NORD:1085] +synonym: "Emphysema, Congenital Lobar" EXACT [NORD:1085, OMIM:130710] synonym: "emphysema, congenital lobar" EXACT [MONDO:Lexical, OMIM:130710] synonym: "infantile lobar hyperinflation" EXACT [Orphanet:1928] xref: GARD:2104 {source="MONDO:GARD"} @@ -152938,10 +152953,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:2789"} subset: orphanet_rare {source="Orphanet:2789"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lateral meningocele syndrome" EXACT [MONDO:Lexical, OMIM:130720] -synonym: "Lehman syndrome" EXACT [OMIM:130720, Orphanet:2789] -synonym: "LMNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:130720] -synonym: "Lms" RELATED [OMIM:130720] +synonym: "lateral meningocele syndrome" EXACT [DOID:0111343, MONDO:Lexical, OMIM:130720, Orphanet:2789] +synonym: "Lehman syndrome" EXACT [DOID:0111343, OMIM:130720, Orphanet:2789] +synonym: "LMNS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Lms" RELATED [] xref: DOID:0111343 {source="MONDO:equivalentTo"} xref: GARD:9873 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:2789", source="Orphanet:2789/attributed", source="Orphanet:2789/ntbt"} @@ -152961,19 +152976,19 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ADHCAI" EXACT ABBREVIATION [DOID:0110055] -synonym: "AI3" EXACT ABBREVIATION [DOID:0110055, MONDO:Lexical, OMIM:130900] -synonym: "AI3A" RELATED ABBREVIATION [OMIM:130900] +synonym: "AI3" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "AI3A" RELATED ABBREVIATION [] synonym: "amelogenesis imperfecta caused by mutation in FAM83H" EXACT [MONDO:design_pattern] -synonym: "amelogenesis imperfecta hypomineralization type" BROAD [DOID:0110055] -synonym: "amelogenesis imperfecta type 3" BROAD [Orphanet:100032] -synonym: "amelogenesis imperfecta type 3A" RELATED [DOID:0110055] -synonym: "amelogenesis imperfecta type III" BROAD [DOID:0110055] -synonym: "amelogenesis imperfecta, hypocalcification type, autosomal dominant" RELATED [OMIM:130900] -synonym: "amelogenesis imperfecta, hypomineralization type" RELATED [OMIM:130900] -synonym: "amelogenesis imperfecta, type 3" RELATED [OMIM:130900] +synonym: "amelogenesis imperfecta hypomineralization type" BROAD [] +synonym: "amelogenesis imperfecta type 3" BROAD [] +synonym: "amelogenesis imperfecta type 3A" RELATED [] +synonym: "amelogenesis imperfecta type III" BROAD [] +synonym: "amelogenesis imperfecta, hypocalcification type, autosomal dominant" RELATED [] +synonym: "amelogenesis imperfecta, hypomineralization type" RELATED [] +synonym: "amelogenesis imperfecta, type 3" RELATED [] synonym: "amelogenesis imperfecta, type 3A" EXACT [OMIM:130900] -synonym: "amelogenesis imperfecta, type III" RELATED [MONDO:Lexical, OMIM:130900] -synonym: "amelogenesis imperfecta, type IIIA" RELATED [OMIM:130900] +synonym: "amelogenesis imperfecta, type III" RELATED [MONDO:Lexical] +synonym: "amelogenesis imperfecta, type IIIA" RELATED [] synonym: "autosomal dominant amelogenesis imperfecta hypocalcification type" EXACT [DOID:0110055] synonym: "FAM83H amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110055 {source="MONDO:equivalentTo"} @@ -153025,28 +153040,28 @@ subset: orphanet_rare {source="Orphanet:652"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "endocrine adenomatosis multiple" RELATED [GARD:0003829] -synonym: "endocrine adenomatosis, multiple" RELATED [OMIM:131100] -synonym: "MEA 1" RELATED [OMIM:131100] +synonym: "endocrine adenomatosis, multiple" RELATED [] +synonym: "MEA 1" RELATED [] synonym: "MEA type 1" EXACT [NCIT:C3225] synonym: "MEA type I" EXACT [NCIT:C3225] -synonym: "men 1" EXACT [NCIT:C3225] +synonym: "men 1" EXACT [NCIT:C3225, OMIM:131100] synonym: "men type 1" EXACT [NCIT:C3225] synonym: "men type I" EXACT [DOID:10017, NCIT:C3225] synonym: "MEN1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:131100, Orphanet:652] synonym: "MEN1 multiple endocrine neoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MEN1 somatic mutations" RELATED [OMIM:131100] -synonym: "MEN1 syndrome" EXACT [NCIT:C3225] -synonym: "multiple endocrine adenomatosis" BROAD [NCIT:C3225] +synonym: "MEN1 somatic mutations" RELATED [] +synonym: "MEN1 syndrome" EXACT [] +synonym: "multiple endocrine adenomatosis" BROAD [] synonym: "multiple endocrine adenomatosis type 1" EXACT [NCIT:C3225] synonym: "multiple endocrine adenomatosis type I" EXACT [NCIT:C3225] synonym: "multiple endocrine adenomatosis, type I" EXACT [NCIT:C3225] -synonym: "multiple endocrine neoplasia 1" EXACT [OMIM:131100, OMIM:genemap2] +synonym: "multiple endocrine neoplasia 1" EXACT [] synonym: "multiple endocrine neoplasia caused by mutation in MEN1" EXACT [MONDO:design_pattern] -synonym: "multiple endocrine neoplasia type 1" EXACT CLINGEN_LABEL [DOID:10017, NCIT:C3225] -synonym: "multiple endocrine neoplasia type 1 syndrome" EXACT [NCIT:C3225] +synonym: "multiple endocrine neoplasia type 1" EXACT CLINGEN_LABEL [DOID:10017, icd11.foundation:1638765741, NCIT:C3225, Orphanet:652] +synonym: "multiple endocrine neoplasia type 1 syndrome" EXACT [] synonym: "multiple endocrine neoplasia type I" EXACT [NCIT:C3225] -synonym: "multiple endocrine neoplasia, type 1" RELATED [OMIM:131100] -synonym: "multiple endocrine neoplasia, type I" EXACT [MONDO:Lexical, NCIT:C3225, OMIM:131100] +synonym: "multiple endocrine neoplasia, type 1" RELATED [] +synonym: "multiple endocrine neoplasia, type I" EXACT [MONDO:Lexical, NCIT:C3225] synonym: "Wermer syndrome" EXACT [DOID:10017, NCIT:C3225, OMIM:131100, Orphanet:652] synonym: "Wermer's syndrome" EXACT [DOID:10017, NCIT:C3225] xref: DOID:10017 {source="MONDO:equivalentTo"} @@ -153083,9 +153098,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3829/multipl id: MONDO:0007541 name: endometriosis, susceptibility to, 1 subset: predisposition -synonym: "ENDO1" RELATED ABBREVIATION [OMIM:131200] +synonym: "ENDO1" RELATED ABBREVIATION [] synonym: "endometriosis, susceptibility to, 1" EXACT [OMIM:131200] -synonym: "endometriosis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:131200] +synonym: "endometriosis, susceptibility to, type 1" EXACT [MONDORULE:1] xref: MEDGEN:338749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:131200 {source="MONDO:equivalentTo"} xref: UMLS:C1851649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338749"} @@ -153103,17 +153118,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:1328"} subset: orphanet_rare {source="Orphanet:1328"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CAEND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131300] -synonym: "Camurati-Engelmann disease" EXACT [MONDO:Lexical, OMIM:131300] +synonym: "CAEND" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Camurati-Engelmann disease" EXACT [DOID:4997, MONDO:Lexical, OMIM:131300, Orphanet:1328] synonym: "Camurati-Engelmann syndrome" EXACT [NCIT:C84610] synonym: "Camurati-Englemann disease" EXACT [NCIT:C84610] -synonym: "CED" RELATED ABBREVIATION [OMIM:131300] +synonym: "CED" RELATED ABBREVIATION [] synonym: "diaphyseal dysplasia" EXACT [DOID:4997] -synonym: "diaphyseal dysplasia 1, progressive" RELATED [OMIM:131300] +synonym: "diaphyseal dysplasia 1, progressive" RELATED [] synonym: "DPD1" RELATED ABBREVIATION [GARD:0001072] synonym: "Engelman's disease" EXACT [DOID:4997] -synonym: "Engelmann disease" RELATED [OMIM:131300] -synonym: "progressive diaphyseal dysplasia" EXACT [DOID:4997, OMIM:131300, Orphanet:1328] +synonym: "Engelmann disease" RELATED [] +synonym: "progressive diaphyseal dysplasia" EXACT [DOID:4997, NCIT:C84610, OMIM:131300, Orphanet:1328] xref: DOID:4997 {source="MONDO:equivalentTo"} xref: GARD:1072 {source="MONDO:GARD"} xref: ICD10CM:Q78.3 {source="Orphanet:1328/e", source="Orphanet:1328/specific", source="DOID:4997", source="Orphanet:1328"} @@ -153149,7 +153164,7 @@ is_obsolete: true id: MONDO:0007544 name: eosinophilia, familial def: "Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors." [https://orcid.org/0000-0001-5208-3432, PMID:14176021] -synonym: "Eos" RELATED [OMIM:131400] +synonym: "Eos" RELATED [] synonym: "eosinophilia, familial" EXACT [OMIM:131400] synonym: "familial eosinophilia" RELATED [GARD:0010521] xref: MEDGEN:78796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -153163,7 +153178,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10521/famili [Term] id: MONDO:0007545 name: Eosinophilopenia -synonym: "eosinophil aplasia" RELATED [OMIM:131430] +synonym: "eosinophil aplasia" RELATED [] synonym: "Eosinophilopenia" EXACT [OMIM:131430] xref: MEDGEN:343610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:131430 {source="MONDO:equivalentTo"} @@ -153176,9 +153191,9 @@ name: myeloproliferative disorder, chronic, with eosinophilia subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "eosinophils, malignant proliferation of" RELATED [OMIM:131440] -synonym: "MPE" RELATED ABBREVIATION [OMIM:131440] -synonym: "myeloproliferative disorder with eosinophilia" EXACT [OMIM:131440, OMIM:genemap2] +synonym: "eosinophils, malignant proliferation of" RELATED [] +synonym: "MPE" RELATED ABBREVIATION [] +synonym: "myeloproliferative disorder with eosinophilia" EXACT [DOID:0111344] synonym: "myeloproliferative disorder, chronic, with eosinophilia" EXACT [OMIM:131440] xref: DOID:0111344 {source="MONDO:equivalentTo"} xref: MEDGEN:377060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -153226,15 +153241,15 @@ subset: ordo_disorder {source="Orphanet:79411"} subset: orphanet_rare {source="Orphanet:79411"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEB, bullous dermolysis of the newborn" EXACT [Orphanet:79411] -synonym: "DEB-BDN" EXACT [Orphanet:79411] -synonym: "dystrophic epidermolysis bullosa, neonatal" RELATED [OMIM:131705] +synonym: "DEB, bullous dermolysis of the newborn" EXACT [DOID:0111345] +synonym: "DEB-BDN" EXACT ABBREVIATION [DOID:0111345] +synonym: "dystrophic epidermolysis bullosa, neonatal" RELATED [] synonym: "epidermolysis bullosa dystrophica, dominant neonatal form" RELATED [GARD:0010010] -synonym: "epidermolysis bullosa dystrophica, neonatal form" RELATED [OMIM:131705] -synonym: "MONDON" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131705] -synonym: "TBDN" RELATED ABBREVIATION [GARD:0010010, OMIM:131705] -synonym: "transient bullous dermolysis of the newborn" EXACT [MONDO:Lexical, OMIM:131705] -synonym: "transient bullous of the newborn" EXACT [OMIM:131705, OMIM:genemap2] +synonym: "epidermolysis bullosa dystrophica, neonatal form" RELATED [] +synonym: "MONDON" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "TBDN" RELATED ABBREVIATION [GARD:0010010] +synonym: "transient bullous dermolysis of the newborn" EXACT [DOID:0111345, MONDO:Lexical, OMIM:131705, Orphanet:79411] +synonym: "transient bullous of the newborn" EXACT [] xref: DOID:0111345 {source="MONDO:equivalentTo"} xref: GARD:10010 {source="MONDO:GARD"} xref: ICD10CM:Q81.2 {source="Orphanet:79411/attributed", source="Orphanet:79411/ntbt", source="Orphanet:79411"} @@ -153258,24 +153273,24 @@ subset: ordo_disorder {source="Orphanet:231568"} subset: orphanet_rare {source="Orphanet:231568"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Albopapuloid dominant dystrophic epidermolysis bullosa" RELATED [OMIM:131750] -synonym: "autosomal dominant dystrophic epidermolysis bullosa" RELATED [DOID:0080224] -synonym: "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" EXACT [Orphanet:231568] -synonym: "DDEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131750] +synonym: "Albopapuloid dominant dystrophic epidermolysis bullosa" RELATED [] +synonym: "autosomal dominant dystrophic epidermolysis bullosa" RELATED [] +synonym: "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" EXACT [] +synonym: "DDEB" RELATED ABBREVIATION [MONDO:Lexical] synonym: "DDEB, generalised" EXACT OMO:0003005 [] -synonym: "DDEB, generalized" EXACT [Orphanet:231568] -synonym: "DDEB, Pasini and Cockayne-Touraine types" EXACT [Orphanet:231568] -synonym: "DDEB-gen" EXACT [Orphanet:231568] +synonym: "DDEB, generalized" EXACT [] +synonym: "DDEB, Pasini and Cockayne-Touraine types" EXACT [] +synonym: "DDEB-gen" EXACT [] synonym: "dominant dystrophic epidermolysis bullosa" RELATED [GARD:0002139] synonym: "dominant dystrophic epidermolysis bullosa, generalised" RELATED OMO:0003005 [] synonym: "dominant dystrophic epidermolysis bullosa, generalized" RELATED [GARD:0002139] -synonym: "dystrophic epidermolysis bullosa, autosomal dominant" RELATED [OMIM:131750] -synonym: "epidermolysis bullosa dystrophica with subcorneal cleavage" RELATED [OMIM:131750] -synonym: "epidermolysis bullosa dystrophica, AD" EXACT [OMIM:131750, OMIM:genemap2] -synonym: "epidermolysis bullosa dystrophica, autosomal dominant" RELATED [MONDO:Lexical, OMIM:131750] -synonym: "epidermolysis bullosa dystrophica, Cockayne-Touraine type" RELATED [OMIM:131750] +synonym: "dystrophic epidermolysis bullosa, autosomal dominant" RELATED [] +synonym: "epidermolysis bullosa dystrophica with subcorneal cleavage" RELATED [] +synonym: "epidermolysis bullosa dystrophica, AD" EXACT [] +synonym: "epidermolysis bullosa dystrophica, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "epidermolysis bullosa dystrophica, Cockayne-Touraine type" RELATED [] synonym: "epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)" RELATED [GARD:0002139] -synonym: "epidermolysis bullosa dystrophica, Pasini type" RELATED [OMIM:131750] +synonym: "epidermolysis bullosa dystrophica, Pasini type" RELATED [] synonym: "epidermolysis bullosa dystrophica, Pasini type (formerly)" RELATED [GARD:0002139] xref: DOID:0080224 {source="MONDO:equivalentTo"} xref: GARD:2139 {source="MONDO:GARD"} @@ -153302,18 +153317,18 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Dowling-Meara type epidermolysis bullosa simplex" RELATED [GARD:0002141] synonym: "EBS, generalised severe" EXACT OMO:0003005 [] -synonym: "EBS, generalized severe" EXACT [Orphanet:79396] +synonym: "EBS, generalized severe" EXACT [] synonym: "EBS-DM" RELATED [GARD:0002141] synonym: "EBS-gen sev" EXACT [DOID:0060735] -synonym: "EBSDM" EXACT ABBREVIATION [DOID:0060735, MONDO:Lexical, OMIM:131760] +synonym: "EBSDM" EXACT ABBREVIATION [DOID:0060735, MONDO:Lexical] synonym: "epidermolysis bullosa herpetiformis Dowling-Meara type" EXACT [DOID:0060735] -synonym: "epidermolysis bullosa herpetiformis, Dowling-Meara type" RELATED [OMIM:131760] -synonym: "epidermolysis bullosa simplex 1A, generalized severe" EXACT [OMIM:131760, OMIM:genemap2] -synonym: "epidermolysis bullosa simplex Dowling-Meara type" EXACT [OMIM:131760] -synonym: "epidermolysis bullosa simplex, Dowling-Meara type" RELATED [MONDO:Lexical, OMIM:131760] +synonym: "epidermolysis bullosa herpetiformis, Dowling-Meara type" RELATED [] +synonym: "epidermolysis bullosa simplex 1A, generalized severe" EXACT [OMIM:131760] +synonym: "epidermolysis bullosa simplex Dowling-Meara type" EXACT [DOID:0060735] +synonym: "epidermolysis bullosa simplex, Dowling-Meara type" RELATED [MONDO:Lexical] synonym: "epidermolysis bullosa simplex, generalised severe" RELATED OMO:0003005 [] -synonym: "epidermolysis bullosa simplex, generalized severe" RELATED [OMIM:131760] -synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT [DOID:0060735, Orphanet:79396] +synonym: "epidermolysis bullosa simplex, generalized severe" RELATED [] +synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT [DOID:0060735] synonym: "generalised severe epidermolysis bullosa simplex" EXACT OMO:0003005 [] synonym: "generalized severe epidermolysis bullosa simplex" EXACT [DOID:0060735] xref: DOID:0060735 {source="MONDO:equivalentTo"} @@ -153341,14 +153356,14 @@ subset: ordo_disorder {source="Orphanet:79400"} subset: orphanet_rare {source="Orphanet:79400"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EBS, acral form" RELATED [OMIM:131800] +synonym: "EBS, acral form" RELATED [] synonym: "EBS-loc" EXACT [Orphanet:79400] -synonym: "epidermolysis bullosa of hands and feet" RELATED [OMIM:131800] -synonym: "epidermolysis bullosa simplex 1C, localized" EXACT [OMIM:131800, OMIM:genemap2] +synonym: "epidermolysis bullosa of hands and feet" RELATED [] +synonym: "epidermolysis bullosa simplex 1C, localized" EXACT [OMIM:131800] synonym: "epidermolysis bullosa simplex of palms and soles" EXACT [Orphanet:79400] synonym: "epidermolysis bullosa simplex, localised" RELATED OMO:0003005 [] -synonym: "epidermolysis bullosa simplex, localized" RELATED [OMIM:131800] -synonym: "epidermolysis bullosa simplex, Weber-Cockayne type" EXACT [OMIM:131800, Orphanet:79400] +synonym: "epidermolysis bullosa simplex, localized" RELATED [] +synonym: "epidermolysis bullosa simplex, Weber-Cockayne type" EXACT [Orphanet:79400] synonym: "localised epidermolysis bullosa simplex" EXACT OMO:0003005 [] synonym: "localized epidermolysis bullosa simplex" EXACT [Orphanet:79400] synonym: "Weber-Cockayne syndrome" RELATED [GARD:0002146] @@ -153377,12 +153392,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79410"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Deb, pretibial" RELATED [OMIM:131850] +synonym: "Deb, pretibial" RELATED [] synonym: "DEB-Pt" EXACT [Orphanet:79410] -synonym: "dystrophic epidermolysis bullosa, pretibial" RELATED [OMIM:131850] -synonym: "epidermolysis bullosa dystrophica, pretibial" RELATED [OMIM:131850] -synonym: "epidermolysis bullosa, pretibial" RELATED [OMIM:131850] -synonym: "pretibial DEB" EXACT [Orphanet:79410] +synonym: "dystrophic epidermolysis bullosa, pretibial" RELATED [] +synonym: "epidermolysis bullosa dystrophica, pretibial" RELATED [] +synonym: "epidermolysis bullosa, pretibial" RELATED [] +synonym: "pretibial DEB" EXACT [] synonym: "pretibial epidermolysis bullosa" RELATED [GARD:0002155] xref: DOID:0080988 {source="MONDO:equivalentTo"} xref: GARD:2155 {source="MONDO:GARD"} @@ -153419,25 +153434,25 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "EBS, generalised" RELATED OMO:0003005 [] synonym: "EBS, generalised intermediate" EXACT OMO:0003005 [] -synonym: "EBS, generalized" RELATED [OMIM:131900] -synonym: "EBS, generalized intermediate" EXACT [Orphanet:79399] +synonym: "EBS, generalized" RELATED [] +synonym: "EBS, generalized intermediate" EXACT [] synonym: "EBS-K" RELATED [GARD:0002147] -synonym: "epidermolysis bullosa simplex 1B, generalized intermediate" EXACT [OMIM:131900, OMIM:genemap2] +synonym: "epidermolysis bullosa simplex 1B, generalized intermediate" EXACT [OMIM:131900] synonym: "epidermolysis bullosa simplex, generalised" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa simplex, generalised intermediate" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa simplex, generalised non-Dowling-Meara" RELATED OMO:0003005 [] -synonym: "epidermolysis bullosa simplex, generalized" RELATED [OMIM:131900] -synonym: "epidermolysis bullosa simplex, generalized intermediate" RELATED [Orphanet:79399] +synonym: "epidermolysis bullosa simplex, generalized" RELATED [] +synonym: "epidermolysis bullosa simplex, generalized intermediate" RELATED [] synonym: "epidermolysis bullosa simplex, generalized non-Dowling-Meara" RELATED [GARD:0002147] -synonym: "epidermolysis bullosa simplex, Kobner type" EXACT [Orphanet:79399] -synonym: "epidermolysis bullosa simplex, Koebner type" EXACT [OMIM:131900, Orphanet:79399] +synonym: "epidermolysis bullosa simplex, Kobner type" EXACT [] +synonym: "epidermolysis bullosa simplex, Koebner type" EXACT [Orphanet:79399] synonym: "epidermolysis bullosa simplex, Köbner type" EXACT [Orphanet:79399] synonym: "generalised EBS" RELATED OMO:0003005 [] synonym: "generalised EBS, non-Dowling-Meara type" EXACT OMO:0003005 [] synonym: "generalised epidermolysis bullosa simplex, non-Dowling-Meara type" EXACT OMO:0003005 [] synonym: "generalized EBS" RELATED [GARD:0002147] -synonym: "generalized EBS, non-Dowling-Meara type" EXACT [Orphanet:79399] -synonym: "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" EXACT [Orphanet:79399] +synonym: "generalized EBS, non-Dowling-Meara type" EXACT [] +synonym: "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" EXACT [] xref: DOID:0080511 {source="MONDO:equivalentTo"} xref: GARD:2147 {source="MONDO:GARD"} xref: ICD10CM:Q81.0 {source="Orphanet:79399/attributed", source="Orphanet:79399/ntbt", source="Orphanet:79399"} @@ -153463,10 +153478,10 @@ subset: ordo_disorder {source="Orphanet:79401"} subset: orphanet_rare {source="Orphanet:79401"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EBS-O" EXACT [DOID:0060736, Orphanet:79401] -synonym: "EBS-Og" EXACT [DOID:0060736] -synonym: "EBSOG" EXACT ABBREVIATION [DOID:0060736, MONDO:Lexical, OMIM:131950] -synonym: "epidermolysis bullosa simplex 5A, Ogna type" EXACT [OMIM:131950, OMIM:genemap2] +synonym: "EBS-O" EXACT ABBREVIATION [DOID:0060736] +synonym: "EBS-Og" EXACT ABBREVIATION [DOID:0060736] +synonym: "EBSOG" EXACT ABBREVIATION [DOID:0060736, MONDO:Lexical] +synonym: "epidermolysis bullosa simplex 5A, Ogna type" EXACT [OMIM:131950] synonym: "epidermolysis bullosa simplex, Ogna type" EXACT [MONDO:Lexical, OMIM:131950] xref: DOID:0060736 {source="MONDO:equivalentTo"} xref: GARD:2148 {source="MONDO:GARD"} @@ -153495,11 +153510,11 @@ subset: orphanet_rare {source="Orphanet:79397"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "EBS with mottled pigmentation" RELATED [GARD:0009737] -synonym: "EBS-MP" EXACT [Orphanet:79397] -synonym: "EBSMP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:131960] -synonym: "epidermolysis bullosa simplex 2F, with mottled pigmentation" EXACT [OMIM:131960, OMIM:genemap2] -synonym: "epidermolysis bullosa simplex with mottled pigmentation" EXACT [MONDO:Lexical, OMIM:131960] -synonym: "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" RELATED [OMIM:131960] +synonym: "EBS-MP" EXACT ABBREVIATION [Orphanet:79397] +synonym: "EBSMP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "epidermolysis bullosa simplex 2F, with mottled pigmentation" EXACT [OMIM:131960] +synonym: "epidermolysis bullosa simplex with mottled pigmentation" EXACT [DOID:0111346, MONDO:Lexical, OMIM:131960, Orphanet:79397] +synonym: "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" RELATED [] synonym: "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering" RELATED [GARD:0009737] xref: DOID:0111346 {source="MONDO:equivalentTo"} xref: GARD:9737 {source="MONDO:GARD"} @@ -153520,9 +153535,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9737/epiderm [Term] id: MONDO:0007557 name: epidermolysis bullosa with congenital localized absence of skin and deformity of nails -synonym: "EBD, Bart type" EXACT [OMIM:132000, OMIM:genemap2] -synonym: "epidermolysis bullosa dystrophica, Bart type" RELATED [OMIM:132000] -synonym: "epidermolysis bullosa with congenital localized absence of skin and deformity of nails" EXACT [OMIM:132000] +synonym: "EBD, Bart type" EXACT [DOID:0111347] +synonym: "epidermolysis bullosa dystrophica, Bart type" RELATED [] +synonym: "epidermolysis bullosa with congenital localized absence of skin and deformity of nails" EXACT [DOID:0111347, OMIM:132000] xref: DOID:0111347 {source="MONDO:equivalentTo"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:82797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -153546,9 +153561,9 @@ subset: ordo_disorder {source="Orphanet:25968"} subset: orphanet_rare {source="Orphanet:25968"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "benign occipital epilepsy" EXACT [Orphanet:25968] -synonym: "BOE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:132090] -synonym: "epilepsy, benign occipital" RELATED [MONDO:Lexical, OMIM:132090] +synonym: "benign occipital epilepsy" EXACT [icd11.foundation:49954675, Orphanet:25968] +synonym: "BOE" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "epilepsy, benign occipital" RELATED [MONDO:Lexical] xref: GARD:2170 {source="MONDO:GARD"} xref: ICD10CM:G40.0 {source="Orphanet:25968/attributed", source="Orphanet:25968/ntbt", source="Orphanet:25968"} xref: icd11.foundation:49954675 {source="MONDO:equivalentTo"} @@ -153565,11 +153580,11 @@ id: MONDO:0007559 name: photoparoxysmal response 1 subset: gard_rare {source="GARD:15065", source="MONDO:GARD"} subset: rare -synonym: "epilepsy, photogenic" RELATED [OMIM:132100] -synonym: "Photoconvulsive reaction" RELATED [OMIM:132100] +synonym: "epilepsy, photogenic" RELATED [] +synonym: "Photoconvulsive reaction" RELATED [] synonym: "photoparoxysmal response 1" EXACT [MONDO:Lexical, OMIM:132100] -synonym: "photosensitivity" RELATED [OMIM:132100] -synonym: "Ppr" RELATED [OMIM:132100] +synonym: "photosensitivity" RELATED [] +synonym: "Ppr" RELATED [] synonym: "PPR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:132100] xref: GARD:15065 {source="MONDO:GARD"} xref: MEDGEN:358382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -153588,7 +153603,7 @@ subset: ordo_disorder {source="Orphanet:166433"} subset: orphanet_rare {source="Orphanet:166433"} subset: rare synonym: "epilepsy with reading-induced seizures" EXACT [https://www.epilepsydiagnosis.org/syndrome/reflex-epilepsies-overview.html] -synonym: "epilepsy, reading" RELATED [OMIM:132300] +synonym: "epilepsy, reading" RELATED [] synonym: "EwRIS" EXACT ABBREVIATION [https://www.epilepsydiagnosis.org/syndrome/reflex-epilepsies-overview.html] xref: GARD:17029 {source="MONDO:GARD"} xref: ICD10CM:G40.8 {source="Orphanet:166433/ntbt", source="Orphanet:166433"} @@ -153610,18 +153625,18 @@ subset: orphanet_rare {source="Orphanet:93308"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "COMP multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "EDM1" EXACT ABBREVIATION [GARD:0002180, MONDO:Lexical, OMIM:132400, Orphanet:93308] +synonym: "EDM1" EXACT ABBREVIATION [DOID:0070303, GARD:0002180, MONDO:Lexical, OMIM:132400, Orphanet:93308] synonym: "epiphyseal dysplasia multiple 1" RELATED [GARD:0002180] -synonym: "epiphyseal dysplasia, Fairbank type" RELATED [OMIM:132400] -synonym: "epiphyseal dysplasia, multiple, 1" RELATED [MONDO:Lexical, OMIM:132400] -synonym: "epiphyseal dysplasia, multiple, type 1" EXACT [MONDORULE:1, OMIM:132400] -synonym: "epiphyseal dysplasia, ribbing type" RELATED [OMIM:132400] -synonym: "MED1" EXACT ABBREVIATION [Orphanet:93308] +synonym: "epiphyseal dysplasia, Fairbank type" RELATED [] +synonym: "epiphyseal dysplasia, multiple, 1" RELATED [MONDO:Lexical] +synonym: "epiphyseal dysplasia, multiple, type 1" EXACT [MONDORULE:1] +synonym: "epiphyseal dysplasia, ribbing type" RELATED [] +synonym: "MED1" EXACT ABBREVIATION [DOID:0070303, Orphanet:93308] synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COMP" EXACT [] synonym: "multiple epiphyseal dysplasia 1" RELATED [GARD:0002180] synonym: "multiple epiphyseal dysplasia COMP-related" RELATED [GARD:0002180] -synonym: "multiple epiphyseal dysplasia, Comp-related" RELATED [OMIM:132400] -synonym: "Polyepiphyseal dysplasia type 1" EXACT [Orphanet:93308] +synonym: "multiple epiphyseal dysplasia, Comp-related" RELATED [] +synonym: "Polyepiphyseal dysplasia type 1" EXACT [DOID:0070303, Orphanet:93308] xref: DOID:0070303 {source="MONDO:equivalentTo"} xref: GARD:2180 {source="MONDO:GARD"} xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:93308/attributed", source="Orphanet:93308/ntbt", source="Orphanet:93308"} @@ -153647,10 +153662,10 @@ subset: gard_rare {source="GARD:17012", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EDMMD" RELATED ABBREVIATION [MESH:C565046, MONDO:Lexical, OMIM:132450] -synonym: "epiphyseal dysplasia, multiple, with myopia and conductive deafness" RELATED [MONDO:Lexical, OMIM:132450] -synonym: "epiphyseal dysplasia, multiple, with myopia and deafness" EXACT [OMIM:132450, OMIM:genemap2] -synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT [Orphanet:166011] +synonym: "EDMMD" RELATED ABBREVIATION [MESH:C565046, MONDO:Lexical] +synonym: "epiphyseal dysplasia, multiple, with myopia and conductive deafness" RELATED [MONDO:Lexical] +synonym: "epiphyseal dysplasia, multiple, with myopia and deafness" EXACT [] +synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT [DOID:0111348] xref: DOID:0111348 {source="MONDO:equivalentTo"} xref: GARD:17012 {source="MONDO:GARD"} xref: ICD10CM:Q77.3 {source="Orphanet:166011", source="MONDO:relatedTo", source="Orphanet:166011/attributed", source="Orphanet:166011/ntbt"} @@ -153682,15 +153697,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:91414"} subset: orphanet_rare {source="Orphanet:91414"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "benign hair follicle neoplasm" NARROW [NCIT:C7368] -synonym: "benign pilomatricoma" NARROW [DOID:5374] -synonym: "benign pilomatrixoma" NARROW [NCIT:C7368] +synonym: "benign hair follicle neoplasm" NARROW [] +synonym: "benign pilomatricoma" NARROW [] +synonym: "benign pilomatrixoma" NARROW [] synonym: "calcifying epithelioma of Malherbe" RELATED [GARD:0009452] synonym: "calcifying Epitherlioma of Malherbe" EXACT [NCIT:C7368] -synonym: "epithelioma calcificans of Malherbe" EXACT [OMIM:132600, Orphanet:91414] -synonym: "pilomatricoma" EXACT [DOID:5374, NCIT:C7368, OMIM:132600, Orphanet:91414] -synonym: "pilomatricoma, somatic" EXACT [OMIM:132600, OMIM:genemap2] -synonym: "pilomatrixoma" EXACT [OMIM:132600] +synonym: "epithelioma calcificans of Malherbe" EXACT [icd11.foundation:378820295, OMIM:132600, Orphanet:91414] +synonym: "pilomatricoma" EXACT [DOID:5374, icd11.foundation:378820295, NCIT:C7368, OMIM:132600, Orphanet:91414] +synonym: "pilomatricoma, somatic" EXACT [] +synonym: "pilomatrixoma" EXACT [DOID:5374, icd11.foundation:378820295, NCIT:C7368, OMIM:132600, Orphanet:91414] synonym: "pilomatrixoma, benign" EXACT [NCIT:C7368] synonym: "PTR" RELATED ABBREVIATION [GARD:0009452] xref: DOID:5374 {source="MONDO:equivalentTo"} @@ -153723,14 +153738,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:211"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "'turban tumor' syndrome" RELATED [OMIM:132700] -synonym: "Ancell-Spiegler Cylindromas" RELATED [OMIM:132700] +synonym: "'turban tumor' syndrome" RELATED [] +synonym: "Ancell-Spiegler Cylindromas" RELATED [] synonym: "Ancell-Spiegler syndrome" EXACT [NCIT:C43352] synonym: "CYLD" RELATED ABBREVIATION [GARD:0009707] -synonym: "Cylindromas, dermal eccrine" RELATED [OMIM:132700] -synonym: "cylindromatosis, familial" RELATED [OMIM:132700] +synonym: "Cylindromas, dermal eccrine" RELATED [] +synonym: "cylindromatosis, familial" RELATED [] synonym: "turban tumor" EXACT [NCIT:C43352] -synonym: "turban tumor syndrome" EXACT [Orphanet:211] +synonym: "turban tumor syndrome" EXACT [NCIT:C43352, Orphanet:211] synonym: "turban tumors" RELATED [GARD:0009707] synonym: "turban tumour" EXACT OMO:0003005 [] synonym: "turban tumour syndrome" EXACT OMO:0003005 [] @@ -153758,23 +153773,23 @@ subset: ordo_disorder {source="Orphanet:65748"} subset: orphanet_rare {source="Orphanet:65748"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ESS1" RELATED ABBREVIATION [OMIM:132800] +synonym: "ESS1" RELATED ABBREVIATION [] synonym: "ESS1 (formerly)" RELATED [GARD:0003090] -synonym: "ESS1, formerly" RELATED [OMIM:132800] +synonym: "ESS1, formerly" RELATED [] synonym: "familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type" EXACT [Orphanet:65748] synonym: "Ferguson-Smith disease" EXACT [https://orcid.org/0000-0002-6601-2165, Orphanet:65748] synonym: "Ferguson-Smith syndrome" EXACT [] -synonym: "Ferguson-Smith tumor" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C4461] +synonym: "Ferguson-Smith tumor" EXACT [DOID:5585, https://orcid.org/0000-0002-6601-2165, NCIT:C4461] synonym: "Ferguson-Smith tumour" EXACT OMO:0003005 [] -synonym: "Ferguson-Smith type epithelioma" RELATED [OMIM:132800] -synonym: "Ferguson-Smith-type epithelioma" RELATED [OMIM:132800] +synonym: "Ferguson-Smith type epithelioma" RELATED [] +synonym: "Ferguson-Smith-type epithelioma" RELATED [] synonym: "MSSE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:132800, Orphanet:65748] synonym: "multiple keratoacanthoma, Ferguson-Smith type" EXACT [Orphanet:65748] synonym: "multiple self healing epithelioma of Ferguson-Smith" EXACT [NCIT:C4461] synonym: "multiple self healing squamous epithelioma" RELATED [GARD:0003090] synonym: "multiple self-healing epithelioma of Ferguson-Smith" EXACT [DOID:5585] -synonym: "multiple self-healing squamous epithelioma" EXACT CLINGEN_LABEL [] -synonym: "multiple self-healing squamous epithelioma, susceptibility to" RELATED [MONDO:Lexical, OMIM:132800] +synonym: "multiple self-healing squamous epithelioma" EXACT CLINGEN_LABEL [Orphanet:65748] +synonym: "multiple self-healing squamous epithelioma, susceptibility to" RELATED [MONDO:Lexical] synonym: "self-healing squamous epithelioma type 1" EXACT [Orphanet:65748] xref: DOID:5585 {source="MONDO:equivalentTo"} xref: GARD:3090 {source="MONDO:GARD"} @@ -153799,11 +153814,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3090/multipl id: MONDO:0007567 name: obsolete Epstein-Barr virus insertion site 1 comment: Not a disease but a genomic locus. -synonym: "EBVS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:132850] -synonym: "Epstein-Barr VIRUS insertion site 1" RELATED [OMIM:132850] -synonym: "Epstein-Barr virus insertion site 1" EXACT [MONDO:Lexical, OMIM:132850] -synonym: "Epstein-Barr Virus insertion site type 1" EXACT [MONDORULE:1, OMIM:132850] -synonym: "Epstein-Barr Virus integration site" RELATED [OMIM:132850] +synonym: "EBVS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Epstein-Barr VIRUS insertion site 1" RELATED [] +synonym: "Epstein-Barr virus insertion site 1" EXACT [MONDO:Lexical] +synonym: "Epstein-Barr Virus insertion site type 1" EXACT [MONDORULE:1] +synonym: "Epstein-Barr Virus integration site" RELATED [] xref: OMIM:132850 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1633" xsd:anyURI is_obsolete: true @@ -153815,11 +153830,11 @@ def: "Any familial thoracic aortic aneurysm and aortic dissection in which the c subset: gard_rare {source="GARD:9876", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AAT4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:132900] +synonym: "AAT4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "aortic aneurysm, familial thoracic 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:132900] -synonym: "aortic aneurysm, familial thoracic type 4" EXACT [MONDORULE:1, OMIM:132900] -synonym: "aortic aneurysm/aortic dissection and patent ductus arteriosus" RELATED [OMIM:132900] -synonym: "FAA4" RELATED ABBREVIATION [OMIM:132900] +synonym: "aortic aneurysm, familial thoracic type 4" EXACT [MONDORULE:1] +synonym: "aortic aneurysm/aortic dissection and patent ductus arteriosus" RELATED [] +synonym: "FAA4" RELATED ABBREVIATION [] synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11" EXACT [MONDO:design_pattern] synonym: "MYH11 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:9876 {source="MONDO:GARD"} @@ -153857,7 +153872,7 @@ subset: ordo_disorder {source="Orphanet:231031"} subset: orphanet_rare {source="Orphanet:231031"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "erythema palmare hereditarium" EXACT [OMIM:133000] +synonym: "erythema palmare hereditarium" EXACT [OMIM:133000, Orphanet:231031] synonym: "lane disease" EXACT [Orphanet:231031] synonym: "Red palms disease" EXACT [Orphanet:231031] xref: GARD:17157 {source="MONDO:GARD"} @@ -153881,15 +153896,15 @@ subset: ordo_disorder {source="Orphanet:90026"} subset: orphanet_rare {source="Orphanet:90026"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "erythermalgia, primary" RELATED [OMIM:133020] -synonym: "erythromelalgia, familial" RELATED [OMIM:133020] -synonym: "erythromelalgia, primary" RELATED [OMIM:133020] +synonym: "erythermalgia, primary" RELATED [] +synonym: "erythromelalgia, familial" RELATED [] +synonym: "erythromelalgia, primary" RELATED [] synonym: "Mitchell disease (formerly)" RELATED DEPRECATED [GARD:0006377] -synonym: "neuropathy, small fiber" RELATED [OMIM:133020] +synonym: "neuropathy, small fiber" RELATED [] synonym: "neuropathy, small fibre" RELATED OMO:0003005 [] synonym: "PERYTHM" EXACT ABBREVIATION [NCIT:C125383] -synonym: "primary erythromelalgia" EXACT [NCIT:C125383] -synonym: "small fiber neuropathy" RELATED [OMIM:133020, OMIM:genemap2] +synonym: "primary erythromelalgia" EXACT [NCIT:C125383, Orphanet:90026] +synonym: "small fiber neuropathy" RELATED [] synonym: "small fibre neuropathy" RELATED OMO:0003005 [] xref: GARD:6377 {source="MONDO:GARD"} xref: ICD10CM:I73.8 {source="Orphanet:90026", source="Orphanet:90026/index", source="Orphanet:90026/ntbt"} @@ -153915,26 +153930,26 @@ subset: ordo_disorder {source="Orphanet:90042"} subset: orphanet_rare {source="Orphanet:90042"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant benign erythrocytosis" RELATED [DOID:0060652] +synonym: "autosomal dominant benign erythrocytosis" RELATED [] synonym: "congenital erythrocytosis due to erythropoietin receptor mutation" EXACT [Orphanet:90042] synonym: "congenital polycythemia due to erythropoietin receptor mutation" EXACT [Orphanet:90042] -synonym: "ECYT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133100] +synonym: "ECYT1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "EPOR familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "erythrocytosis autosomal dominant benign" RELATED [GARD:0009843] -synonym: "erythrocytosis, autosomal dominant benign" RELATED [OMIM:133100] -synonym: "erythrocytosis, familial, 1" EXACT [GARD:0009843, MONDO:Lexical, OMIM:133100, OMIM:genemap2] -synonym: "erythrocytosis, familial, type 1" EXACT [MONDORULE:1, OMIM:133100] -synonym: "erythrocytosis, somatic" EXACT [OMIM:133100, OMIM:genemap2] +synonym: "erythrocytosis, autosomal dominant benign" RELATED [] +synonym: "erythrocytosis, familial, 1" EXACT [GARD:0009843, MONDO:Lexical, OMIM:133100] +synonym: "erythrocytosis, familial, type 1" EXACT [MONDORULE:1] +synonym: "erythrocytosis, somatic" EXACT [] synonym: "familial erythrocytosis" EXACT [Orphanet:90042] synonym: "familial erythrocytosis 1" EXACT [DOID:0060652] -synonym: "familial erythrocytosis type 1" EXACT [DOID:0060652, MONDORULE:1] +synonym: "familial erythrocytosis type 1" EXACT [MONDORULE:1] synonym: "familial erythrocytosis, 1" EXACT [GARD:0009843] synonym: "familial polycythemia caused by mutation in EPOR" EXACT [MONDO:design_pattern] synonym: "PFCP" EXACT ABBREVIATION [Orphanet:90042] -synonym: "polycythemia, primary familial and congenital" RELATED [OMIM:133100] +synonym: "polycythemia, primary familial and congenital" RELATED [] synonym: "primary congenital erythrocytosis" EXACT [Orphanet:90042] synonym: "primary familial and congenital polycythemia" EXACT [DOID:0060652, Orphanet:90042] -synonym: "primary familial polycythemia" RELATED [Orphanet:90042] +synonym: "primary familial polycythemia" RELATED [] xref: DOID:0060652 {source="MONDO:equivalentTo"} xref: GARD:9843 {source="MONDO:GARD"} xref: ICD10CM:D75.0 {source="Orphanet:90042", source="Orphanet:90042/attributed", source="Orphanet:90042/ntbt", source="DOID:0060652"} @@ -153960,12 +153975,12 @@ def: "An inherited susceptibility or predisposition to developing acute erythrol subset: inferred_rare subset: rare synonym: "acute erythroleukemia, familial" RELATED [] -synonym: "Di Guglielmo disease, familial" RELATED [OMIM:133180] -synonym: "ERYTHROLEUKEMIA, familial" RELATED [OMIM:133180] -synonym: "erythroleukemia, familial, susceptibility to" EXACT [OMIM:133180, OMIM:genemap2] +synonym: "Di Guglielmo disease, familial" RELATED [] +synonym: "ERYTHROLEUKEMIA, familial" RELATED [] +synonym: "erythroleukemia, familial, susceptibility to" EXACT [OMIM:133180] synonym: "hereditary acute erythroid leukaemia" EXACT OMO:0003005 [] synonym: "hereditary acute erythroid leukemia" EXACT [MONDO:patterns/hereditary] -synonym: "leukemia, acute myelogenous, M6" RELATED [OMIM:133180] +synonym: "leukemia, acute myelogenous, M6" RELATED [] xref: ICD9:207.0 {source="EFO:0000218"} xref: MEDGEN:1790819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535673 {source="EFO:0000218"} @@ -153993,13 +154008,13 @@ subset: orphanet_rare {source="Orphanet:1955"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "erythrokeratodermia - ataxia" RELATED [GARD:0000059] -synonym: "Erythrokeratodermia with Ataxia" EXACT [NORD:1105] +synonym: "Erythrokeratodermia with Ataxia" EXACT [NORD:1105, OMIM:133190, Orphanet:1955] synonym: "erythrokeratodermia with ataxia" EXACT [GARD:0000059, OMIM:133190, Orphanet:1955] synonym: "Giroux Barbeau syndrome" RELATED [GARD:0000059] synonym: "SCA34" EXACT ABBREVIATION [GARD:0000059, MONDO:Lexical, OMIM:133190, Orphanet:1955] -synonym: "spinocerebellar ataxia 34" RELATED [MONDO:Lexical, OMIM:133190] +synonym: "spinocerebellar ataxia 34" RELATED [MONDO:Lexical] synonym: "spinocerebellar ataxia and erythrokeratodermia" EXACT [Orphanet:1955] -synonym: "spinocerebellar ataxia type 34" EXACT [MONDORULE:2, OMIM:133190] +synonym: "spinocerebellar ataxia type 34" EXACT [DOID:0050981, MONDORULE:2, Orphanet:1955] xref: DOID:0050981 {source="MONDO:equivalentTo"} xref: GARD:59 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:1955/attributed", source="Orphanet:1955/ntbt", source="Orphanet:1955"} @@ -154027,48 +154042,48 @@ id: MONDO:0007576 name: esophageal cancer def: "A primary or metastatic malignant neoplasm involving the esophagus." [NCIT:C7478] subset: otar {source="MONDO:OTAR"} -synonym: "Aerodigestive tract cancer, susceptibility to" RELATED [OMIM:133239] -synonym: "Ca lower third esophagus" NARROW [DOID:5041] +synonym: "Aerodigestive tract cancer, susceptibility to" RELATED [] +synonym: "Ca lower third esophagus" NARROW [] synonym: "Ca lower third oesophagus" NARROW OMO:0003005 [] -synonym: "Ca middle third esophagus" NARROW [DOID:5041] +synonym: "Ca middle third esophagus" NARROW [] synonym: "Ca middle third oesophagus" NARROW OMO:0003005 [] synonym: "cancer of esophagus" EXACT [MONDO:patterns/cancer] synonym: "cancer of oesophagus" EXACT OMO:0003005 [] -synonym: "Escc, susceptibility to" RELATED [OMIM:133239] -synonym: "esophageal cancer" EXACT [OMIM:133239] -synonym: "esophageal cancer, somatic" EXACT [OMIM:133239, OMIM:genemap2] -synonym: "esophageal carcinoma, somatic" EXACT [OMIM:133239, OMIM:genemap2] -synonym: "esophageal squamous cell carcinoma, somatic" EXACT [OMIM:133239, OMIM:genemap2] -synonym: "esophageal squamous cell carcinoma, susceptibility to" RELATED [OMIM:133239] +synonym: "Escc, susceptibility to" RELATED [] +synonym: "esophageal cancer" EXACT [DOID:5041, OMIM:133239] +synonym: "esophageal cancer, somatic" EXACT [] +synonym: "esophageal carcinoma, somatic" EXACT [] +synonym: "esophageal squamous cell carcinoma, somatic" EXACT [] +synonym: "esophageal squamous cell carcinoma, susceptibility to" RELATED [] synonym: "esophagus cancer" EXACT [DOID:5041, MONDO:patterns/location] -synonym: "gastric cardia adenocarcinoma, susceptibility to" RELATED [OMIM:133239] +synonym: "gastric cardia adenocarcinoma, susceptibility to" RELATED [] synonym: "malignant esophageal neoplasm" EXACT [NCIT:C7478] synonym: "malignant esophageal tumor" EXACT [NCIT:C7478] synonym: "malignant esophageal tumour" EXACT OMO:0003005 [] synonym: "malignant esophagus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant esophagus tumor" EXACT [NCIT:C7478] -synonym: "malignant neoplasm of distal third of esophagus" NARROW [DOID:5041] +synonym: "malignant neoplasm of distal third of esophagus" NARROW [] synonym: "malignant neoplasm of distal third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant neoplasm of esophagus" EXACT [MONDO:patterns/cancer, NCIT:C7478] -synonym: "malignant neoplasm of lower third of esophagus" NARROW [DOID:5041] +synonym: "malignant neoplasm of lower third of esophagus" NARROW [] synonym: "malignant neoplasm of lower third of oesophagus" NARROW OMO:0003005 [] -synonym: "malignant neoplasm of middle third of esophagus" NARROW [DOID:5041] +synonym: "malignant neoplasm of middle third of esophagus" NARROW [] synonym: "malignant neoplasm of middle third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant neoplasm of oesophagus" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of proximal third of esophagus" NARROW [DOID:5041] +synonym: "malignant neoplasm of proximal third of esophagus" NARROW [] synonym: "malignant neoplasm of proximal third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant neoplasm of the esophagus" EXACT [NCIT:C7478] synonym: "malignant neoplasm of the oesophagus" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of upper third esophagus" NARROW [DOID:5041] +synonym: "malignant neoplasm of upper third esophagus" NARROW [] synonym: "malignant neoplasm of upper third oesophagus" NARROW OMO:0003005 [] synonym: "malignant oesophagus neoplasm" EXACT OMO:0003005 [] synonym: "malignant oesophagus tumour" EXACT OMO:0003005 [] -synonym: "malignant tumor of abdominal esophagus" NARROW [DOID:5041, NCIT:C4764] -synonym: "malignant tumor of distal third of esophagus" NARROW [DOID:5041, NCIT:C3535] +synonym: "malignant tumor of abdominal esophagus" NARROW [] +synonym: "malignant tumor of distal third of esophagus" NARROW [] synonym: "malignant tumor of esophagus" EXACT [NCIT:C7478] -synonym: "malignant tumor of proximal third of esophagus" NARROW [DOID:5041, NCIT:C3533] +synonym: "malignant tumor of proximal third of esophagus" NARROW [] synonym: "malignant tumor of the esophagus" EXACT [NCIT:C7478] -synonym: "malignant tumor of the middle third of the esophagus" NARROW [DOID:5041, NCIT:C3534] +synonym: "malignant tumor of the middle third of the esophagus" NARROW [] synonym: "malignant tumour of abdominal oesophagus" NARROW OMO:0003005 [] synonym: "malignant tumour of distal third of oesophagus" NARROW OMO:0003005 [] synonym: "malignant tumour of oesophagus" EXACT OMO:0003005 [] @@ -154135,9 +154150,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007578 name: obsolete esterase B -synonym: "ESB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133260] -synonym: "esterase B" EXACT [MONDO:Lexical, OMIM:133260] -synonym: "esterase type B" EXACT [MONDORULE:1, OMIM:133260] +synonym: "ESB" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "esterase B" EXACT [MONDO:Lexical] +synonym: "esterase type B" EXACT [MONDORULE:1] xref: MESH:C049262 {source="MONDO:obsoleteEquivalent"} xref: OMIM:133260 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGene"} @@ -154147,9 +154162,9 @@ is_obsolete: true [Term] id: MONDO:0007579 name: obsolete esterase C -synonym: "ESC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133270] -synonym: "esterase C" EXACT [MONDO:Lexical, OMIM:133270] -synonym: "esterase type C" EXACT [MONDORULE:1, OMIM:133270] +synonym: "ESC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "esterase C" EXACT [MONDO:Lexical] +synonym: "esterase type C" EXACT [MONDORULE:1] xref: OMIM:133270 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGene"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI @@ -154159,7 +154174,7 @@ is_obsolete: true id: MONDO:0007580 name: obsolete esterase ES-2, regulator for comment: Reason: out of scope specific to autosomal disorder. Term to consider: none -synonym: "esterase ES-2, regulator for" EXACT [OMIM:133300] +synonym: "esterase ES-2, regulator for" EXACT [] xref: OMIM:133300 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGene"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI @@ -154168,7 +154183,7 @@ is_obsolete: true [Term] id: MONDO:0007581 name: exchondrosis of pinna, posterior -synonym: "Ear bump" RELATED [OMIM:133500] +synonym: "Ear bump" RELATED [] synonym: "exchondrosis of pinna, posterior" EXACT [OMIM:133500] xref: MEDGEN:377032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565036 {source="MONDO:equivalentTo"} @@ -154185,7 +154200,7 @@ replaced_by: MONDO:0019570 [Term] id: MONDO:0007583 name: obsolete exostoses of heel -synonym: "exostoses of heel" EXACT [OMIM:133600] +synonym: "exostoses of heel" EXACT [] xref: MESH:C563167 {source="MONDO:obsoleteEquivalent"} xref: OMIM:133600 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -154203,7 +154218,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1962"} subset: orphanet_rare {source="Orphanet:1962"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "exostoses with anetodermia and brachydactyly, type E" RELATED [OMIM:133690] +synonym: "exostoses with anetodermia and brachydactyly, type E" RELATED [] xref: GARD:2202 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:1962", source="Orphanet:1962/attributed", source="Orphanet:1962/ntbt"} xref: MEDGEN:338695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -154223,15 +154238,15 @@ subset: gard_rare {source="GARD:2204", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diaphyseal Aclasis" RELATED [OMIM:133700] +synonym: "diaphyseal Aclasis" RELATED [] synonym: "exostoses, multiple caused by mutation in EXT1" EXACT [MONDO:design_pattern] -synonym: "exostoses, multiple, type 1" EXACT CLINGEN_LABEL [] -synonym: "exostoses, multiple, type I" RELATED [OMIM:133700] -synonym: "EXT" RELATED ABBREVIATION [OMIM:133700] +synonym: "exostoses, multiple, type 1" EXACT CLINGEN_LABEL [OMIM:133700] +synonym: "exostoses, multiple, type I" RELATED [] +synonym: "EXT" RELATED ABBREVIATION [] synonym: "EXT1 exostoses, multiple" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "multiple cartilaginous exostoses" RELATED [OMIM:133700] -synonym: "multiple osteochondromas" RELATED [OMIM:133700] -synonym: "osteochondromatosis" RELATED [OMIM:133700] +synonym: "multiple cartilaginous exostoses" RELATED [] +synonym: "multiple osteochondromas" RELATED [] +synonym: "osteochondromatosis" RELATED [] xref: GARD:2204 {source="MONDO:GARD"} xref: OMIM:133700 {source="MONDO:equivalentTo"} xref: Orphanet:321 {source="OMIM:133700"} @@ -154252,11 +154267,11 @@ subset: gard_rare {source="GARD:2205", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "exostoses (Multiple) 2 Gene" EXACT [NCIT:C18252] +synonym: "exostoses (Multiple) 2 Gene" EXACT [] synonym: "exostoses, multiple caused by mutation in EXT2" EXACT [MONDO:design_pattern] -synonym: "exostoses, multiple, type 2" EXACT CLINGEN_LABEL [] -synonym: "exostoses, multiple, type II" RELATED [OMIM:133701] -synonym: "Ext2" RELATED [OMIM:133701] +synonym: "exostoses, multiple, type 2" EXACT CLINGEN_LABEL [OMIM:133701] +synonym: "exostoses, multiple, type II" RELATED [] +synonym: "Ext2" RELATED [] synonym: "EXT2 exostoses, multiple" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EXT2 Gene" EXACT [NCIT:C18252] xref: GARD:2205 {source="MONDO:GARD"} @@ -154281,10 +154296,10 @@ subset: ordo_disorder {source="Orphanet:3023"} subset: ordo_malformation_syndrome {source="Orphanet:3023"} subset: orphanet_rare {source="Orphanet:3023"} subset: rare -synonym: "external auditory canal, bilateral atresia of, with congenital vertical talus" RELATED [OMIM:133705] +synonym: "external auditory canal, bilateral atresia of, with congenital vertical talus" RELATED [] synonym: "inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance" RELATED [GARD:0004638] synonym: "Rasmussen Johnsen Thomsen syndrome" RELATED [GARD:0004638] -synonym: "Rasmussen syndrome" RELATED [OMIM:133705] +synonym: "Rasmussen syndrome" RELATED [] synonym: "Rasmussen-Johnsen-Thomsen syndrome" EXACT [Orphanet:3023] xref: GARD:4638 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3023", source="Orphanet:3023/attributed", source="Orphanet:3023/ntbt"} @@ -154308,7 +154323,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1964"} subset: orphanet_rare {source="Orphanet:1964"} subset: rare synonym: "Char-Douglas-Dungan syndrome" EXACT [Orphanet:1964] -synonym: "extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly" RELATED [OMIM:133750] +synonym: "extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly" RELATED [] xref: GARD:2213 {source="MONDO:GARD"} xref: MEDGEN:343564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565032 {source="MONDO:equivalentTo"} @@ -154324,13 +154339,13 @@ name: exudative vitreoretinopathy 1 subset: gard_rare {source="GARD:15068", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Criswick-Schepens syndrome" RELATED [OMIM:133780] -synonym: "EVR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133780] -synonym: "exudative vitreoretinopathy 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:133780] -synonym: "exudative vitreoretinopathy type 1" EXACT [MONDORULE:1, OMIM:133780] -synonym: "exudative vitreoretinopathy, familial, autosomal dominant" RELATED [OMIM:133780] -synonym: "FEVR, autosomal dominant" RELATED [OMIM:133780] -synonym: "retinopathy of prematurity" RELATED [OMIM:133780] +synonym: "Criswick-Schepens syndrome" RELATED [] +synonym: "EVR1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "exudative vitreoretinopathy 1" EXACT CLINGEN_LABEL [DOID:0111412, MONDO:Lexical, NCIT:C175048, OMIM:133780] +synonym: "exudative vitreoretinopathy type 1" EXACT [MONDORULE:1] +synonym: "exudative vitreoretinopathy, familial, autosomal dominant" RELATED [] +synonym: "FEVR, autosomal dominant" RELATED [] +synonym: "retinopathy of prematurity" RELATED [] xref: DOID:0111412 {source="MONDO:equivalentTo"} xref: GARD:15068 {source="MONDO:GARD"} xref: MEDGEN:343561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -154354,10 +154369,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:141145"} subset: orphanet_rare {source="Orphanet:141145"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "facial asymmetry" RELATED [OMIM:133900] -synonym: "facial hemihypertrophy" RELATED [OMIM:133900] -synonym: "hemifacial hyperplasia" RELATED [OMIM:133900] -synonym: "hemifacial hypertrophy" EXACT [OMIM:133900] +synonym: "facial asymmetry" RELATED [] +synonym: "facial hemihypertrophy" RELATED [] +synonym: "hemifacial hyperplasia" RELATED [] +synonym: "hemifacial hypertrophy" EXACT [icd11.foundation:2090544963, OMIM:133900, Orphanet:141145] xref: GARD:16971 {source="MONDO:GARD"} xref: ICD10CM:Q67.4 {source="Orphanet:141145/inclusion", source="Orphanet:141145", source="Orphanet:141145/ntbt"} xref: icd11.foundation:2090544963 {source="MONDO:equivalentTo"} @@ -154391,7 +154406,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:2809"} subset: orphanet_rare {source="Orphanet:2809"} subset: rare -synonym: "facial palsy, familial recurrent peripheral" RELATED [OMIM:134200] +synonym: "facial palsy, familial recurrent peripheral" RELATED [] synonym: "familial recurrent Bell palsy" EXACT [Orphanet:2809] xref: GARD:16609 {source="MONDO:GARD"} xref: ICD10CM:G51.0 {source="Orphanet:2809", source="MONDO:relatedTo", source="Orphanet:2809/attributed", source="Orphanet:2809/ntbt"} @@ -154416,9 +154431,9 @@ id: MONDO:0007594 name: factor 5 excess with spontaneous thrombosis subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "factor V excess with spontaneous thrombosis" RELATED [OMIM:134400] +synonym: "factor V excess with spontaneous thrombosis" RELATED [] synonym: "Proaccelerin Excess" EXACT [MESH:C565026, OMIM:134400] -synonym: "thrombophilia with elevated Factor 5" RELATED [OMIM:134400] +synonym: "thrombophilia with elevated Factor 5" RELATED [] xref: MEDGEN:341996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565026 {source="MONDO:equivalentTo"} xref: OMIM:134400 {source="MONDO:equivalentTo"} @@ -154433,10 +154448,10 @@ name: factor VII and Factor VIII, combined deficiency of subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "factor 7 and Factor VIII, combined deficiency of" RELATED [OMIM:134430] -synonym: "factor VII and Factor VIII, combined deficiency of" EXACT [OMIM:134430] -synonym: "familial multiple coagulation Factor deficiency 4" RELATED [OMIM:134430] -synonym: "multiple coagulation Factor deficiency 4" RELATED [OMIM:134430] +synonym: "factor 7 and Factor VIII, combined deficiency of" RELATED [] +synonym: "factor VII and Factor VIII, combined deficiency of" EXACT [] +synonym: "familial multiple coagulation Factor deficiency 4" RELATED [] +synonym: "multiple coagulation Factor deficiency 4" RELATED [] xref: MEDGEN:341995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565025 {source="MONDO:equivalentTo"} xref: OMIM:134430 {source="MONDO:equivalentTo"} @@ -154454,11 +154469,11 @@ replaced_by: MONDO:0010602 [Term] id: MONDO:0007597 name: factor VIII and Factor IX, combined deficiency of -synonym: "F8F9D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:134510] -synonym: "factor 8 and Factor IX, combined deficiency of" RELATED [OMIM:134510] -synonym: "factor VIII and Factor IX, combined deficiency of" EXACT [MONDO:Lexical, OMIM:134510] -synonym: "factor VIII and factor IX, combined deficiency OF" RELATED [OMIM:134510] -synonym: "familial multiple coagulation Factor deficiency 2" RELATED [OMIM:134510] +synonym: "F8F9D" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "factor 8 and Factor IX, combined deficiency of" RELATED [] +synonym: "factor VIII and Factor IX, combined deficiency of" EXACT [MONDO:Lexical] +synonym: "factor VIII and factor IX, combined deficiency OF" RELATED [] +synonym: "familial multiple coagulation Factor deficiency 2" RELATED [] xref: MEDGEN:341994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565024 {source="MONDO:equivalentTo"} xref: OMIM:134510 {source="MONDO:equivalentTo"} @@ -154470,10 +154485,10 @@ relationship: disease_arises_from_feature HP:0011858 ! Reduced factor IX activit [Term] id: MONDO:0007598 name: factors VIII, IX and XI, combined deficiency of -synonym: "factors VIII, 9 and Xi, combined deficiency of" RELATED [OMIM:134520] -synonym: "factors VIII, IX and XI, combined deficiency of" EXACT [OMIM:134520] -synonym: "familial multiple coagulation Factor deficiency 5" RELATED [OMIM:134520] -synonym: "multiple coagulation Factor deficiency 5" RELATED [OMIM:134520] +synonym: "factors VIII, 9 and Xi, combined deficiency of" RELATED [] +synonym: "factors VIII, IX and XI, combined deficiency of" EXACT [] +synonym: "familial multiple coagulation Factor deficiency 5" RELATED [] +synonym: "multiple coagulation Factor deficiency 5" RELATED [] xref: MEDGEN:341993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565023 {source="MONDO:equivalentTo"} xref: OMIM:134520 {source="MONDO:equivalentTo"} @@ -154486,9 +154501,9 @@ relationship: disease_arises_from_feature HP:0011858 ! Reduced factor IX activit [Term] id: MONDO:0007599 name: factor 9 and Factor XI, combined deficiency of -synonym: "factor IX and factor XI, combined deficiency OF" RELATED [OMIM:134540] -synonym: "familial multiple coagulation Factor deficiency 6" RELATED [OMIM:134540] -synonym: "multiple coagulation Factor deficiency 6" RELATED [OMIM:134540] +synonym: "factor IX and factor XI, combined deficiency OF" RELATED [] +synonym: "familial multiple coagulation Factor deficiency 6" RELATED [] +synonym: "multiple coagulation Factor deficiency 6" RELATED [] xref: MEDGEN:377012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565022 {source="MONDO:equivalentTo"} xref: OMIM:134540 {source="MONDO:equivalentTo"} @@ -154506,9 +154521,9 @@ subset: ordo_disorder {source="Orphanet:3337"} subset: orphanet_rare {source="Orphanet:3337"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fanconi renotubular syndrome 1" NARROW [MONDO:Lexical, OMIM:134600] -synonym: "FRTS1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:134600] -synonym: "primary Fanconi renotubular syndrome" NARROW [Orphanet:3337] +synonym: "Fanconi renotubular syndrome 1" NARROW [MONDO:Lexical] +synonym: "FRTS1" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "primary Fanconi renotubular syndrome" NARROW [] xref: GARD:9118 {source="MONDO:GARD"} xref: ICD10CM:E72.0 {source="Orphanet:3337/inclusion", source="Orphanet:3337", source="Orphanet:3337/ntbt"} xref: MEDGEN:341765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -154528,9 +154543,9 @@ name: familial Mediterranean fever, autosomal dominant subset: gard_rare {source="GARD:15069", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "familial Mediterranean fever, AD" EXACT [OMIM:134610, OMIM:genemap2] +synonym: "familial Mediterranean fever, AD" EXACT [] synonym: "familial Mediterranean fever, autosomal dominant" EXACT CLINGEN_LABEL [OMIM:134610] -synonym: "Fmf, autosomal dominant" RELATED [OMIM:134610] +synonym: "Fmf, autosomal dominant" RELATED [] xref: GARD:15069 {source="MONDO:GARD"} xref: MEDGEN:341987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565021 {source="MONDO:equivalentTo"} @@ -154545,8 +154560,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007602 name: obsolete favism, susceptibility to subset: predisposition -synonym: "favism, susceptibility to" EXACT [OMIM:134700] -synonym: "moved to {300908}" RELATED [OMIM:134700] +synonym: "favism, susceptibility to" EXACT [] +synonym: "moved to {300908}" RELATED [] xref: OMIM:134700 {source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:362 {source="OMIM:134700"} is_obsolete: true @@ -154564,8 +154579,8 @@ subset: orphanet_rare {source="Orphanet:47612"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial Felty's syndrome" RELATED [GARD:0008234] -synonym: "Felty syndrome" EXACT [DOID:11042, OMIM:134750] -synonym: "Felty's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Felty syndrome" EXACT [DOID:11042, NCIT:C84712, OMIM:134750, Orphanet:47612] +synonym: "Felty's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:11042, MONDO:LexicalVariant, NCIT:C84712] synonym: "rheumatoid arthritis with splenoadenomegaly and leukopenia" EXACT [DOID:11042] synonym: "rheumatoid arthritis, splenomegaly and neutropenia" RELATED [GARD:0008234] synonym: "splenomegaly-neutropenia-rheumatoid arthritis syndrome" EXACT [Orphanet:47612] @@ -154609,7 +154624,7 @@ synonym: "Femoral Facial Syndrome" EXACT [NORD:1136] synonym: "femoral facial syndrome" EXACT [GARD:0000061] synonym: "femoral hypoplasia unusual facies syndrome" RELATED [GARD:0000061] synonym: "femoral hypoplasia-unusual facies syndrome" EXACT [OMIM:134780, Orphanet:1988] -synonym: "femoral-facial syndrome" EXACT [MONDO:Lexical, OMIM:134780] +synonym: "femoral-facial syndrome" EXACT [icd11.foundation:505576809, MONDO:Lexical, OMIM:134780, Orphanet:1988] synonym: "FFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:134780, Orphanet:1988] synonym: "FHUFS" EXACT ABBREVIATION [Orphanet:1988] xref: GARD:61 {source="MONDO:GARD"} @@ -154651,13 +154666,14 @@ subset: ordo_disorder {source="Orphanet:337"} subset: orphanet_rare {source="Orphanet:337"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fibrodysplasia ossificans progressiva" EXACT [MONDO:Lexical, OMIM:135100] -synonym: "fop" EXACT [MONDO:Lexical, OMIM:135100, Orphanet:337] -synonym: "myositis ossificans progressiva" RELATED [DOID:13374, Orphanet:337] -synonym: "progressive myositis ossificans" EXACT [DOID:13374, ICD9CM:728.11] +synonym: "fibrodysplasia ossificans progressiva" EXACT [DOID:13374, icd11.foundation:2102976705, MONDO:Lexical, NCIT:C3040, OMIM:135100, Orphanet:337] +synonym: "FOP" EXACT ABBREVIATION [OMIM:135100, Orphanet:337] +synonym: "fop" EXACT [MONDO:Lexical] +synonym: "myositis ossificans progressiva" RELATED [] +synonym: "progressive myositis ossificans" EXACT [DOID:13374, icd11.foundation:2102976705, ICD9CM:728.11] synonym: "progressive ossifying myositis" EXACT [DOID:13374] -synonym: "Stone Man syndrome" EXACT [DOID:13374] -synonym: "Stone man syndrome" EXACT [Orphanet:337] +synonym: "Stone Man syndrome" EXACT [DOID:13374, Orphanet:337] +synonym: "Stone man syndrome" EXACT [DOID:13374, Orphanet:337] xref: DOID:13374 {source="MONDO:equivalentTo"} xref: GARD:6445 {source="MONDO:GARD"} xref: ICD10CM:M61.1 {source="Orphanet:337", source="DOID:13374", source="Orphanet:337/e", source="Orphanet:337/specific"} @@ -154713,15 +154729,15 @@ synonym: "aggressive fibromatosis" EXACT [NCIT:C9182, Orphanet:873] synonym: "deep fibromatosis" EXACT [NCIT:C9182] synonym: "deep fibromatosis/desmoid tumor" EXACT [NCIT:C9182] synonym: "deep fibromatosis/desmoid tumour" EXACT OMO:0003005 [] -synonym: "desmoid disease, hereditary" RELATED [OMIM:135290] +synonym: "desmoid disease, hereditary" RELATED [] synonym: "desmoid disorder, hereditary" RELATED [GARD:0001820] synonym: "desmoid fibromatosis" EXACT [NCIT:C9182] -synonym: "desmoid tumor" EXACT [NCIT:C9182] +synonym: "desmoid tumor" EXACT [DOID:0080366, NCIT:C9182, Orphanet:873] synonym: "desmoid type fibromatosis" EXACT [Orphanet:873] synonym: "desmoid-type fibromatosis" EXACT [NCIT:C9182] synonym: "desmoid/aggressive fibromatosis" RELATED [ONCOTREE:DES] synonym: "familial infiltrative fibromatosis" RELATED [GARD:0001820] -synonym: "fibromatosis, familial infiltrative" RELATED [OMIM:135290] +synonym: "fibromatosis, familial infiltrative" RELATED [] synonym: "FIF" RELATED ABBREVIATION [GARD:0001820] xref: DOID:0080366 {source="MONDO:equivalentTo"} xref: EFO:0009907 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -154748,11 +154764,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "fibromatosis gingival, hereditary, 1" RELATED [GARD:0006509] synonym: "fibromatosis, gingival, 1" EXACT [MONDO:Lexical, OMIM:135300] -synonym: "fibromatosis, gingival, hereditary" RELATED [OMIM:135300] -synonym: "fibromatosis, gingival, type 1" EXACT [MONDORULE:1, OMIM:135300] -synonym: "GGF1" RELATED ABBREVIATION [OMIM:135300] -synonym: "GINGF" RELATED ABBREVIATION [OMIM:135300] -synonym: "GINGF1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135300] +synonym: "fibromatosis, gingival, hereditary" RELATED [] +synonym: "fibromatosis, gingival, type 1" EXACT [MONDORULE:1] +synonym: "GGF1" RELATED ABBREVIATION [] +synonym: "GINGF" RELATED ABBREVIATION [] +synonym: "GINGF1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "gingival fibromatosis caused by mutation in SOS1" EXACT [MONDO:design_pattern] synonym: "gingival fibromatosis, 1" RELATED [GARD:0006509] synonym: "hereditary gingival fibromatosis caused by mutation in SOS1" EXACT [] @@ -154783,23 +154799,23 @@ subset: orphanet_rare {source="Orphanet:2026"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CGHT" EXACT ABBREVIATION [Orphanet:2026] -synonym: "chromosome 17Q24.2-q24.3 deletion syndrome" RELATED [OMIM:135400] -synonym: "chromosome 17Q24.2-q24.3 Duplication syndrome" RELATED [OMIM:135400] +synonym: "chromosome 17Q24.2-q24.3 deletion syndrome" RELATED [] +synonym: "chromosome 17Q24.2-q24.3 Duplication syndrome" RELATED [] synonym: "congenital generalised hypertrichosis terminalis" EXACT OMO:0003005 [] synonym: "congenital generalized hypertrichosis terminalis" EXACT [Orphanet:2026] synonym: "extreme hirsutism with gingival fibromatosis" RELATED [GARD:0002324] -synonym: "fibromatosis, gingival, with hypertrichosis" RELATED [OMIM:135400] +synonym: "fibromatosis, gingival, with hypertrichosis" RELATED [] synonym: "gingival fibromatosis with hypertrichosis" RELATED [GARD:0002324] synonym: "hereditary gingival fibromatosis with hypertrichosis" RELATED [GARD:0002324] synonym: "hirsutism-congenital gingival hyperplasia syndrome" EXACT [Orphanet:2026] -synonym: "HTC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135400] +synonym: "HTC3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hypertrichosis terminalis, generalized, with gingival hyperplasia" RELATED [GARD:0002324] -synonym: "hypertrichosis terminalis, generalized, with or without gingival hyperplasia" RELATED [OMIM:135400] +synonym: "hypertrichosis terminalis, generalized, with or without gingival hyperplasia" RELATED [] synonym: "hypertrichosis with or without gingival hyperplasia" EXACT [Orphanet:2026] -synonym: "hypertrichosis, congenital generalized, with gingival hyperplasia" EXACT [OMIM:135400, OMIM:genemap2] -synonym: "hypertrichosis, congenital generalized, with or without gingival hyperplasia" RELATED [MONDO:Lexical, OMIM:135400] -synonym: "microdeletion 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400] -synonym: "microduplication 17Q24.2-q24.3 syndrome" RELATED [OMIM:135400] +synonym: "hypertrichosis, congenital generalized, with gingival hyperplasia" EXACT [] +synonym: "hypertrichosis, congenital generalized, with or without gingival hyperplasia" RELATED [MONDO:Lexical] +synonym: "microdeletion 17Q24.2-q24.3 syndrome" RELATED [] +synonym: "microduplication 17Q24.2-q24.3 syndrome" RELATED [] xref: GARD:2324 {source="MONDO:GARD"} xref: ICD10CM:L68.8 {source="Orphanet:2026/attributed", source="Orphanet:2026/ntbt", source="Orphanet:2026"} xref: MEDGEN:342675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -154831,10 +154847,10 @@ subset: orphanet_rare {source="Orphanet:2027"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial gingival fibromatosis associated with progressive deafness" RELATED [GARD:0003056] -synonym: "fibromatosis, gingival, with progressive deafness" RELATED [OMIM:135550] +synonym: "fibromatosis, gingival, with progressive deafness" RELATED [] synonym: "GFD" RELATED ABBREVIATION [GARD:0003056] synonym: "gingival fibromatosis with progressive deafness" RELATED [GARD:0003056] -synonym: "gingival fibromatosis with sensorineural hearing loss" RELATED [OMIM:135550] +synonym: "gingival fibromatosis with sensorineural hearing loss" RELATED [] synonym: "Jones syndrome" EXACT [OMIM:135550, Orphanet:2027] xref: GARD:3056 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="Orphanet:2027/attributed", source="Orphanet:2027/ntbt", source="Orphanet:2027"} @@ -154863,18 +154879,18 @@ subset: orphanet_rare {source="Orphanet:45358"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "blepharoptosis with absent eye movements" RELATED [OMIM:135700] -synonym: "CFEOM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135700] -synonym: "Congenital Fibrosis of the Extraocular Muscles" EXACT [NORD:997] -synonym: "congenital fibrosis of the extraocular muscles" EXACT [MONDO:0000869] +synonym: "blepharoptosis with absent eye movements" RELATED [] +synonym: "CFEOM1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Congenital Fibrosis of the Extraocular Muscles" EXACT [DOID:0080143, NORD:997] +synonym: "congenital fibrosis of the extraocular muscles" EXACT [DOID:0080143, MONDO:0000869] synonym: "FEOM" EXACT ABBREVIATION [Orphanet:45358] -synonym: "Feom1 locus" RELATED [OMIM:135700] +synonym: "Feom1 locus" RELATED [] synonym: "fibrosis of extraocular muscles, congenital" EXACT [OMIMPS:135700] -synonym: "fibrosis of extraocular muscles, congenital, 1" RELATED [MONDO:Lexical, OMIM:135700] -synonym: "fibrosis of extraocular muscles, congenital, 3B" RELATED [OMIM:135700] -synonym: "fibrosis of extraocular muscles, congenital, type 1" EXACT [MONDORULE:1, OMIM:135700] -synonym: "ophthalmoplegia, congenital" RELATED [OMIM:135700] -synonym: "Tukel syndrome" NARROW [DOID:0080143] +synonym: "fibrosis of extraocular muscles, congenital, 1" RELATED [MONDO:Lexical] +synonym: "fibrosis of extraocular muscles, congenital, 3B" RELATED [] +synonym: "fibrosis of extraocular muscles, congenital, type 1" EXACT [MONDORULE:1] +synonym: "ophthalmoplegia, congenital" RELATED [] +synonym: "Tukel syndrome" NARROW [] xref: DOID:0080143 {source="MONDO:equivalentTo"} xref: GARD:12590 {source="MONDO:GARD"} xref: ICD10CM:H49.8 {source="Orphanet:45358", source="Orphanet:45358/attributed", source="Orphanet:45358/ntbt"} @@ -154904,17 +154920,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:2378"} subset: orphanet_rare {source="Orphanet:2378"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fibula and ulna, Duplication of, with absence of tibia and radius" RELATED [OMIM:135750] +synonym: "fibula and ulna, Duplication of, with absence of tibia and radius" RELATED [] synonym: "fibula ulna duplication tibia radius absence" RELATED [GARD:0000155] synonym: "laurin Sandrow syndrome" RELATED [GARD:0000155] -synonym: "laurin-Sandrow syndrome" EXACT [MONDO:Lexical, OMIM:135750] -synonym: "laurin-Sandrow syndrome, segmental" RELATED [OMIM:135750] -synonym: "LSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135750] -synonym: "mirror hands and feet with nasal defects" RELATED [OMIM:135750] -synonym: "mirror hands and feets-nasal defects syndrome" EXACT [Orphanet:2378] -synonym: "mirror-Image polydactyly" RELATED [OMIM:135750] -synonym: "Sandrow syndrome" EXACT [OMIM:135750, Orphanet:2378] -synonym: "tetramelic mirror-Image polydactyly" RELATED [OMIM:135750] +synonym: "laurin-Sandrow syndrome" EXACT [DOID:0111350, icd11.foundation:671594481, MONDO:Lexical, OMIM:135750, Orphanet:2378] +synonym: "laurin-Sandrow syndrome, segmental" RELATED [] +synonym: "LSS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mirror hands and feet with nasal defects" RELATED [] +synonym: "mirror hands and feets-nasal defects syndrome" EXACT [DOID:0111350, Orphanet:2378] +synonym: "mirror-Image polydactyly" RELATED [] +synonym: "Sandrow syndrome" EXACT [DOID:0111350, OMIM:135750, Orphanet:2378] +synonym: "tetramelic mirror-Image polydactyly" RELATED [] xref: DOID:0111350 {source="MONDO:equivalentTo"} xref: GARD:155 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:2378/attributed", source="Orphanet:2378/ntbt", source="Orphanet:2378"} @@ -154950,18 +154966,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARID1B-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] synonym: "autosomal dominant mental retardation 12" EXACT DEPRECATED [DOID:0070042] -synonym: "COFFIN-SIRIS syndrome" RELATED [MONDO:Lexical, OMIM:135900] -synonym: "COFFIN-SIRIS syndrome 1" EXACT [OMIM:135900] -synonym: "Coffin-Siris syndrome 1" EXACT CLINGEN_LABEL [] -synonym: "CSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:135900] +synonym: "COFFIN-SIRIS syndrome" RELATED [MONDO:Lexical] +synonym: "COFFIN-SIRIS syndrome 1" EXACT [DOID:0070042, OMIM:135900] +synonym: "Coffin-Siris syndrome 1" EXACT CLINGEN_LABEL [DOID:0070042, OMIM:135900] +synonym: "CSS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CSS1" EXACT ABBREVIATION [DOID:0070042, OMIM:135900] -synonym: "fifth digit syndrome" BROAD [DOID:0070042, OMIM:135900] -synonym: "hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features" EXACT [OMIM:609943] -synonym: "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features" EXACT DEPRECATED [OMIM:609943] +synonym: "fifth digit syndrome" BROAD [] +synonym: "hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features" EXACT [] +synonym: "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features" EXACT DEPRECATED [OMIM:135900] synonym: "intellectual disability, autosomal dominant 12" EXACT [MONDO:0013804] -synonym: "mental retardation, autosomal dominant 12" RELATED DEPRECATED [MONDO:Lexical, OMIM:614562] -synonym: "mental retardation, autosomal dominant type 12" EXACT DEPRECATED [MONDORULE:2, OMIM:614562] -synonym: "MRD12" EXACT ABBREVIATION [DOID:0070042, MONDO:Lexical, OMIM:614562] +synonym: "mental retardation, autosomal dominant 12" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 12" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD12" EXACT ABBREVIATION [DOID:0070042, MONDO:Lexical] xref: DOID:0070042 {source="MONDO:equivalentTo"} xref: GARD:15072 {source="MONDO:GARD"} xref: MEDGEN:482831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -154990,7 +155006,7 @@ subset: ordo_disorder {source="Orphanet:1937"} subset: ordo_malformation_syndrome {source="Orphanet:1937"} subset: orphanet_rare {source="Orphanet:1937"} subset: rare -synonym: "finger locking, recurrent, with intrauterine growth retardation and proportionate short stature" RELATED [OMIM:135950] +synonym: "finger locking, recurrent, with intrauterine growth retardation and proportionate short stature" RELATED [] synonym: "short stature-locking fingers syndrome" EXACT [Orphanet:1937] xref: GARD:2123 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:1937/attributed", source="Orphanet:1937/ntbt", source="Orphanet:1937"} @@ -155010,14 +155026,14 @@ subset: ordo_disorder {source="Orphanet:289465"} subset: orphanet_rare {source="Orphanet:289465"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "absence of fingerprints" BROAD [DOID:0111357, GARD:0012550] +synonym: "absence of fingerprints" BROAD [GARD:0012550] synonym: "ADERM" EXACT ABBREVIATION [DOID:0111357, MONDO:Lexical, OMIM:136000] -synonym: "adermatoglyphia" BROAD [DOID:0111357, MONDO:Lexical, OMIM:136000, OMIM:genemap2] -synonym: "ADG" BROAD ABBREVIATION [DOID:0111357, GARD:0012550] +synonym: "adermatoglyphia" BROAD [MONDO:Lexical] +synonym: "ADG" BROAD ABBREVIATION [GARD:0012550] synonym: "congenital absence of fingerprints" EXACT [DOID:0111357, Orphanet:289465] -synonym: "fingerprints, absence of" BROAD [OMIM:136000] +synonym: "fingerprints, absence of" BROAD [] synonym: "immigration delay disease" EXACT [DOID:0111357, Orphanet:289465] -synonym: "isolated congenital adermatoglyphia" EXACT [DOID:0111357] +synonym: "isolated congenital adermatoglyphia" EXACT [DOID:0111357, Orphanet:289465] xref: DOID:0111357 {source="MONDO:equivalentTo"} xref: GARD:12550 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:289465/attributed", source="Orphanet:289465/ntbt", source="Orphanet:289465"} @@ -155041,14 +155057,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79292"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alpha-LCAT deficiency" RELATED [OMIM:136120] +synonym: "alpha-LCAT deficiency" RELATED [] synonym: "alpha-lecithin cholesterol acyltransferase deficiency" RELATED [GARD:0006450] -synonym: "alpha-lecithin:cholesterol acyltransferase deficiency" RELATED [OMIM:136120] -synonym: "dyslipoproteinemic corneal dystrophy" RELATED [OMIM:136120] -synonym: "fed" EXACT [MONDO:Lexical, OMIM:136120, Orphanet:79292] -synonym: "fish eye disease" EXACT [MONDO:Lexical, OMIM:136120] -synonym: "fish-eye disease" RELATED [OMIM:136120] -synonym: "LCATA deficiency" RELATED [OMIM:136120] +synonym: "alpha-lecithin:cholesterol acyltransferase deficiency" RELATED [] +synonym: "dyslipoproteinemic corneal dystrophy" RELATED [] +synonym: "FED" EXACT ABBREVIATION [OMIM:136120, Orphanet:79292] +synonym: "fed" EXACT [MONDO:Lexical] +synonym: "fish eye disease" EXACT [MONDO:Lexical] +synonym: "fish-eye disease" RELATED [] +synonym: "LCATA deficiency" RELATED [] synonym: "partial LCAT deficiency" EXACT [Orphanet:79292] xref: GARD:6450 {source="MONDO:GARD"} xref: ICD10CM:E78.6 {source="Orphanet:79292/attributed", source="Orphanet:79292/ntbt", source="Orphanet:79292"} @@ -155076,10 +155093,10 @@ subset: orphanet_rare {source="Orphanet:2044"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FHS" RELATED ABBREVIATION [GARD:0006455] -synonym: "FLHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136140] +synonym: "FLHS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Floating Harbor Syndrome" EXACT [NORD:1151] -synonym: "floating-HARBOR syndrome" EXACT [OMIM:136140] -synonym: "floating-Harbor syndrome" EXACT [MONDO:Lexical, OMIM:136140] +synonym: "floating-HARBOR syndrome" EXACT [DOID:0111358, icd11.foundation:2101730645, NCIT:C175241, OMIM:136140, Orphanet:2044] +synonym: "floating-Harbor syndrome" EXACT [DOID:0111358, icd11.foundation:2101730645, MONDO:Lexical, NCIT:C175241, OMIM:136140, Orphanet:2044] synonym: "Pelletier-Leisti syndrome" RELATED [GARD:0006455] synonym: "short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes" RELATED [GARD:0006455] xref: DOID:0111358 {source="MONDO:equivalentTo"} @@ -155106,7 +155123,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6455/floatin id: MONDO:0007622 name: obsolete flood factor deficiency comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "flood factor deficiency" EXACT [OMIM:136150] +synonym: "flood factor deficiency" EXACT [] xref: MESH:C565009 {source="MONDO:obsoleteEquivalent"} xref: OMIM:136150 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -155133,7 +155150,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental" RELATED [GARD:0002347] synonym: "Flynn Aird syndrome" RELATED [GARD:0002347] -synonym: "Flynn-Aird syndrome" EXACT [OMIM:136300] +synonym: "Flynn-Aird syndrome" EXACT [OMIM:136300, Orphanet:2047] xref: GARD:2347 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2047", source="Orphanet:2047/attributed", source="Orphanet:2047/ntbt"} xref: MEDGEN:91009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -155167,11 +155184,11 @@ subset: ordo_disorder {source="Orphanet:91498"} subset: orphanet_rare {source="Orphanet:91498"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fourth cranial nerve palsy, familial congenital" RELATED [OMIM:136480] +synonym: "fourth cranial nerve palsy, familial congenital" RELATED [] synonym: "hereditary fourth cranial nerve palsy" EXACT [MONDO:patterns/hereditary] -synonym: "strabismus from Superior oblique palsy" RELATED [OMIM:136480] -synonym: "superior oblique oculomotor palsy, familial congenital" RELATED [OMIM:136480] -synonym: "trochlear nerve palsy, familial congenital" RELATED [OMIM:136480] +synonym: "strabismus from Superior oblique palsy" RELATED [] +synonym: "superior oblique oculomotor palsy, familial congenital" RELATED [] +synonym: "trochlear nerve palsy, familial congenital" RELATED [] xref: GARD:10355 {source="MONDO:GARD"} xref: ICD10CM:H49.1 {source="Orphanet:91498", source="Orphanet:91498/attributed", source="Orphanet:91498/ntbt"} xref: MEDGEN:338185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -155195,14 +155212,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79133"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bitemporal aplasia cutis congenita" EXACT [Orphanet:79133] -synonym: "Brauer syndrome" EXACT [Orphanet:79133] +synonym: "bitemporal aplasia cutis congenita" EXACT [OMIM:136500, Orphanet:79133] +synonym: "Brauer syndrome" EXACT [OMIM:136500, Orphanet:79133] synonym: "FFDD type I" EXACT [Orphanet:79133] synonym: "FFDD, type 1" RELATED [GARD:0008416] synonym: "FFDD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:136500, Orphanet:79133] synonym: "focal facial dermal dysplasia 1, Brauer type" EXACT [MONDO:Lexical, OMIM:136500, Orphanet:79133] synonym: "focal facial dermal dysplasia type 1" EXACT [Orphanet:79133] -synonym: "hereditary symmetrical aplastic nevi of temples" RELATED [OMIM:136500] +synonym: "hereditary symmetrical aplastic nevi of temples" RELATED [] xref: GARD:16524 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:79133", source="Orphanet:79133/attributed", source="Orphanet:79133/ntbt"} xref: MEDGEN:1718224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -155220,13 +155237,13 @@ name: foveal hypoplasia 1 def: "Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "foveal hypoplasia 1" EXACT [MONDO:Lexical, OMIM:136520] -synonym: "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" RELATED [OMIM:136520] +synonym: "foveal hypoplasia 1" EXACT [DOID:0070530, MONDO:Lexical, OMIM:136520] +synonym: "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" RELATED [] synonym: "foveal hypoplasia caused by mutation in PAX6" EXACT [MONDO:design_pattern] -synonym: "foveal hypoplasia type 1" EXACT [MONDORULE:1, OMIM:136520] +synonym: "foveal hypoplasia type 1" EXACT [MONDORULE:1] synonym: "foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts" RELATED [GARD:0000406] synonym: "foveal hypoplasia, presenile cataract" RELATED [GARD:0000406] -synonym: "FVH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136520] +synonym: "FVH1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "O Donnell Pappas syndrome" RELATED [GARD:0000406] synonym: "PAX6 foveal hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070530 {source="MONDO:equivalentTo"} @@ -155245,7 +155262,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007629 name: fragile site 10Q23 synonym: "fragile site 10Q23" EXACT [OMIM:136540] -synonym: "fragile site type 10Q23" EXACT [MONDORULE:7, OMIM:136540] +synonym: "fragile site type 10Q23" EXACT [MONDORULE:7] xref: MEDGEN:338183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:136540 {source="MONDO:equivalentTo"} xref: UMLS:C1850987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338183"} @@ -155263,22 +155280,23 @@ subset: orphanet_rare {source="Orphanet:75327"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CAPE dystrophy" EXACT [Orphanet:75327] -synonym: "caped" EXACT [Orphanet:75327] -synonym: "central areolar pigment epithelial dystrophy" EXACT [OMIM:136550, Orphanet:75327] -synonym: "central retinal pigment epithelial dystrophy" EXACT [Orphanet:75327] +synonym: "CAPED" EXACT ABBREVIATION [Orphanet:75327] +synonym: "caped" EXACT [] +synonym: "central areolar pigment epithelial dystrophy" EXACT [DOID:0070439, OMIM:136550, Orphanet:75327] +synonym: "central retinal pigment epithelial dystrophy" EXACT [DOID:0070439, Orphanet:75327] synonym: "foveal dystrophy progressive" RELATED [GARD:0009179] -synonym: "foveal dystrophy, progressive" RELATED [OMIM:136550] -synonym: "foveal dystrophy, progressive, formerly" RELATED [OMIM:136550] -synonym: "macular dystrophy 1, North Carolina type" EXACT [OMIM:136550, OMIM:genemap2] +synonym: "foveal dystrophy, progressive" RELATED [] +synonym: "foveal dystrophy, progressive, formerly" RELATED [] +synonym: "macular dystrophy 1, North Carolina type" EXACT [] synonym: "macular dystrophy retinal 1 North Carolina type" RELATED [GARD:0009179] -synonym: "macular dystrophy, retinal, 1, NORTH Carolina type" RELATED [MONDO:Lexical, OMIM:136550] -synonym: "MCDR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:136550, Orphanet:75327] -synonym: "NCMD" EXACT ABBREVIATION [Orphanet:75327] -synonym: "North Carolina macular dystrophy" EXACT [OMIM:136550] +synonym: "macular dystrophy, retinal, 1, NORTH Carolina type" RELATED [MONDO:Lexical] +synonym: "MCDR1" EXACT ABBREVIATION [DOID:0070439, MONDO:Lexical, OMIM:136550, Orphanet:75327] +synonym: "NCMD" EXACT ABBREVIATION [DOID:0070439, Orphanet:75327] +synonym: "North Carolina macular dystrophy" EXACT [DOID:0070439, icd11.foundation:1931008217, OMIM:136550, Orphanet:75327] synonym: "North Carolina macular dystrophy, retinal 1" EXACT [Orphanet:75327] -synonym: "progressive foveal dystrophy" EXACT [Orphanet:75327] +synonym: "progressive foveal dystrophy" EXACT [DOID:0070439, Orphanet:75327] synonym: "retinal pigment epithelial dystrophy central" RELATED [GARD:0009179] -synonym: "retinal pigment epithelial dystrophy, central" RELATED [OMIM:136550] +synonym: "retinal pigment epithelial dystrophy, central" RELATED [] xref: DOID:0070439 {source="MONDO:equivalentTo"} xref: GARD:9179 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75327", source="Orphanet:75327/attributed", source="Orphanet:75327/ntbt"} @@ -155301,11 +155319,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 16p12.1 deletion syndrome" EXACT [NCIT:C129875] -synonym: "chromosome 16p12.1 deletion syndrome, 520-KB" RELATED [OMIM:136570] -synonym: "chromosome 16p12.1 deletion syndrome, type 520kb" EXACT [DOID:0060399, MONDORULE:9] -synonym: "fragile site 16P12" RELATED [OMIM:136570] -synonym: "fragile site, Distamycin a type, Rare, fra(16)(p12.1)" RELATED [OMIM:136570] +synonym: "chromosome 16p12.1 deletion syndrome" EXACT [DOID:0060399, NCIT:C129875] +synonym: "chromosome 16p12.1 deletion syndrome, 520-KB" RELATED [] +synonym: "chromosome 16p12.1 deletion syndrome, type 520kb" EXACT [MONDORULE:9] +synonym: "fragile site 16P12" RELATED [] +synonym: "fragile site, Distamycin a type, Rare, fra(16)(p12.1)" RELATED [] synonym: "Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus)" EXACT [DECIPHER:92] xref: DECIPHER:92 {source="MONDO:equivalentTo"} xref: DOID:0060399 {source="MONDO:equivalentTo"} @@ -155326,10 +155344,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007632 name: obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) comment: This is not a disease. -synonym: "FRA16B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136580] -synonym: "fragile site 16Q22" RELATED [OMIM:136580] -synonym: "fragile site, DISTAMYCIN A type, RARE, fra(16)(q22.1)" RELATED [OMIM:136580] -synonym: "fragile site, Distamycin a type, rare, fra(16)(q22.1)" EXACT [MONDO:Lexical, OMIM:136580] +synonym: "FRA16B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "fragile site 16Q22" RELATED [] +synonym: "fragile site, DISTAMYCIN A type, RARE, fra(16)(q22.1)" RELATED [] +synonym: "fragile site, Distamycin a type, rare, fra(16)(q22.1)" EXACT [MONDO:Lexical] xref: OMIM:136580 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1452" xsd:anyURI is_obsolete: true @@ -155349,8 +155367,8 @@ is_a: MONDO:0003847 {source="MESH:C564999/inferred"} ! hereditary disease id: MONDO:0007634 name: intellectual disability, FRA12A type subset: otar {source="MONDO:OTAR"} -synonym: "intellectual disability, FRA12A type" EXACT [OMIM:136630] -synonym: "mental retardation, FRA12A type" RELATED DEPRECATED [OMIM:136630] +synonym: "intellectual disability, FRA12A type" EXACT [] +synonym: "mental retardation, FRA12A type" RELATED DEPRECATED [] xref: MEDGEN:369613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566980 {source="MONDO:equivalentTo"} xref: OMIM:136630 {source="MONDO:equivalentTo"} @@ -155368,8 +155386,8 @@ subset: ordo_disorder {source="Orphanet:347"} subset: orphanet_rare {source="Orphanet:347"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Frasier syndrome" EXACT [OMIM:136680] -synonym: "Frasier syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:136680, OMIM:genemap2] +synonym: "Frasier syndrome" EXACT [DOID:0050438, icd11.foundation:1659542949, NCIT:C122805, OMIM:136680, Orphanet:347] +synonym: "Frasier syndrome, autosomal dominant, somatic mutation" EXACT [] xref: DOID:0050438 {source="MONDO:equivalentTo"} xref: GARD:2375 {source="MONDO:GARD"} xref: ICD10CM:N04.1 {source="Orphanet:347/attributed", source="Orphanet:347/ntbt", source="Orphanet:347"} @@ -155407,15 +155425,15 @@ subset: orphanet_rare {source="Orphanet:391474"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ALX3-related frontonasal dysplasia" EXACT [Orphanet:391474] -synonym: "FND1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136760] -synonym: "frontonasal dysplasia" RELATED [OMIM:136760] -synonym: "frontonasal dysplasia 1" RELATED [MONDO:Lexical, OMIM:136760] -synonym: "frontonasal dysplasia type 1" EXACT [MONDORULE:1, OMIM:136760] -synonym: "frontonasal malformation" RELATED [OMIM:136760] -synonym: "frontorhiny" EXACT [OMIM:136760] +synonym: "FND1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "frontonasal dysplasia" RELATED [] +synonym: "frontonasal dysplasia 1" RELATED [MONDO:Lexical] +synonym: "frontonasal dysplasia type 1" EXACT [MONDORULE:1, Orphanet:391474] +synonym: "frontonasal malformation" RELATED [] +synonym: "frontorhiny" EXACT [DOID:0081045, OMIM:136760, Orphanet:391474] synonym: "isolated median cleft face syndrome" EXACT [Orphanet:391474] synonym: "isolated median cleft syndrome" RELATED [GARD:0012642] -synonym: "median Facial cleft syndrome" RELATED [OMIM:136760] +synonym: "median Facial cleft syndrome" RELATED [] xref: DOID:0081045 {source="MONDO:equivalentTo"} xref: GARD:12642 {source="MONDO:GARD"} xref: ICD10CM:Q75.8 {source="Orphanet:391474", source="Orphanet:391474/attributed", source="Orphanet:391474/ntbt"} @@ -155438,9 +155456,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "COL8A2 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "corneal dystrophy, Fuchs endothelial, 1" EXACT [MONDO:Lexical, OMIM:136800] -synonym: "corneal dystrophy, Fuchs endothelial, early-onset" RELATED [OMIM:136800] -synonym: "corneal dystrophy, Fuchs endothelial, type 1" EXACT [MONDORULE:1, OMIM:136800] -synonym: "FECD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:136800] +synonym: "corneal dystrophy, Fuchs endothelial, early-onset" RELATED [] +synonym: "corneal dystrophy, Fuchs endothelial, type 1" EXACT [MONDORULE:1] +synonym: "FECD1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Fuchs' endothelial dystrophy caused by mutation in COL8A2" EXACT [MONDO:design_pattern] xref: GARD:18216 {source="MONDO:GARD"} xref: MEDGEN:338172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -155456,7 +155474,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0007638 name: fucosidase regulator -synonym: "Alpha-L-fucosidase regulator" RELATED [OMIM:136830] +synonym: "Alpha-L-fucosidase regulator" RELATED [] synonym: "fucosidase regulator" EXACT [OMIM:136830] xref: MEDGEN:342631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:136830 {source="MONDO:equivalentTo"} @@ -155473,9 +155491,9 @@ subset: ordo_disorder {source="Orphanet:227796"} subset: orphanet_rare {source="Orphanet:227796"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fundus albipunctatus" EXACT [OMIM:136880] +synonym: "fundus albipunctatus" EXACT [DOID:11105, icd11.foundation:1981512475, OMIM:136880, Orphanet:227796] synonym: "pigmentary retinal dystrophy" EXACT [DOID:11105, ICD9CM:362.74] -synonym: "retinitis punctata albescens" BROAD [DOID:11105, OMIM:136880] +synonym: "retinitis punctata albescens" BROAD [] xref: DOID:11105 {source="MONDO:equivalentTo"} xref: GARD:13809 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:227796/attributed", source="Orphanet:227796/ntbt", source="Orphanet:227796"} @@ -155506,13 +155524,13 @@ subset: ordo_disorder {source="Orphanet:59181"} subset: orphanet_rare {source="Orphanet:59181"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fundus dystrophy, pseudoinflammatory, of Sorsby" RELATED [OMIM:136900] +synonym: "fundus dystrophy, pseudoinflammatory, of Sorsby" RELATED [] synonym: "hemorrhagic macular dystrophy" EXACT [DOID:0090114] -synonym: "macular dystrophy, hemorrhagic" RELATED [OMIM:136900] +synonym: "macular dystrophy, hemorrhagic" RELATED [] synonym: "pseudoinflammatory fundus dystrophy of Sorsby" EXACT [DOID:0090114] synonym: "SFD" EXACT ABBREVIATION [DOID:0090114, MONDO:Lexical, OMIM:136900] -synonym: "Sorsby fundus dystrophy" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:136900] -synonym: "Sorsby pseudoinflammatory fundus dystrophy" RELATED [Orphanet:59181] +synonym: "Sorsby fundus dystrophy" EXACT CLINGEN_LABEL [icd11.foundation:796458172, MONDO:Lexical, OMIM:136900] +synonym: "Sorsby pseudoinflammatory fundus dystrophy" RELATED [] synonym: "Sorsby's fundus dystrophy" EXACT [DOID:0090114] synonym: "Sorsby's pseudoinflammatory macular dystrophy" RELATED [GARD:0010511] xref: DOID:0090114 {source="MONDO:equivalentTo"} @@ -155533,7 +155551,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007641 name: obsolete Futcher line comment: This should not be classified as a disease. The OMIM refs are from 1938, 1940, and 1975, nothing more recent. The language in the entry is dated. -synonym: "Futcher line" EXACT [OMIM:137000] +synonym: "Futcher line" EXACT [] synonym: "pigmentary demarcation lines" EXACT [] synonym: "Voigt lines" EXACT [] xref: OMIM:137000 {source="MONDO:obsoleteEquivalent"} @@ -155549,7 +155567,7 @@ subset: ordo_disorder {source="Orphanet:440987"} subset: ordo_morphological_anomaly {source="Orphanet:440987"} subset: orphanet_rare {source="Orphanet:440987"} subset: rare -synonym: "gallbladder, agenesis OF" RELATED [OMIM:137040] +synonym: "gallbladder, agenesis OF" RELATED [] xref: GARD:21844 {source="MONDO:GARD"} xref: ICD10CM:Q44.0 {source="Orphanet:440987/ntbt", source="Orphanet:440987"} xref: MEDGEN:82736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -155562,9 +155580,9 @@ is_a: MONDO:0004868 {source="Orphanet:440987"} ! biliary tract disorder [Term] id: MONDO:0007643 name: gamma-A-globulin, defect in assembly of -synonym: "gamma-A-globulin, defect in ASSEMBLY OF" RELATED [OMIM:137050] -synonym: "IgA, defect in Assembly of" RELATED [OMIM:137050] -synonym: "Immunoglobulin A, defect in Assembly of" RELATED [OMIM:137050] +synonym: "gamma-A-globulin, defect in ASSEMBLY OF" RELATED [] +synonym: "IgA, defect in Assembly of" RELATED [] +synonym: "Immunoglobulin A, defect in Assembly of" RELATED [] xref: MEDGEN:342627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564991 {source="MONDO:equivalentTo"} xref: OMIM:137050 {source="MONDO:equivalentTo"} @@ -155578,12 +155596,13 @@ def: "Decreased or absent levels of serum immunoglobulin A, with normal serum le subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "gamma-A-globulin, selective deficiency of" RELATED [OMIM:137100] -synonym: "IgA, selective deficiency of" RELATED [OMIM:137100] -synonym: "IgAD1" EXACT [MONDO:Lexical, OMIM:137100] -synonym: "IMMUNOGLOBULIN A deficiency 1" RELATED [MONDO:Lexical, OMIM:137100] -synonym: "immunoglobulin A deficiency, autosomal recessive, autosomal dominant, isolated cases" EXACT [OMIM:137100, OMIM:genemap2] -synonym: "Immunoglobulin A, selective deficiency of" RELATED [OMIM:137100] +synonym: "gamma-A-globulin, selective deficiency of" RELATED [] +synonym: "IgA, selective deficiency of" RELATED [] +synonym: "IGAD1" EXACT ABBREVIATION [NCIT:C123434, OMIM:137100] +synonym: "IgAD1" EXACT [MONDO:Lexical] +synonym: "IMMUNOGLOBULIN A deficiency 1" RELATED [MONDO:Lexical] +synonym: "immunoglobulin A deficiency, autosomal recessive, autosomal dominant, isolated cases" EXACT [] +synonym: "Immunoglobulin A, selective deficiency of" RELATED [] xref: MEDGEN:419725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536290 {source="MONDO:equivalentTo"} xref: NCIT:C123434 {source="MONDO:equivalentTo"} @@ -155599,8 +155618,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007645 name: obsolete gastric sneezing comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "gastric sneezing" EXACT [OMIM:137130] -synonym: "stomach sneeze reflex" RELATED [OMIM:137130] +synonym: "gastric sneezing" EXACT [] +synonym: "stomach sneeze reflex" RELATED [] xref: MESH:C564990 {source="MONDO:obsoleteEquivalent"} xref: OMIM:137130 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -155617,16 +155636,16 @@ subset: ordo_disorder {source="Orphanet:324442"} subset: orphanet_rare {source="Orphanet:324442"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ARAN-NM" EXACT [Orphanet:324442] -synonym: "ARCMT2-NM" EXACT [Orphanet:324442] -synonym: "autosomal recessive axonal neuropathy with neuromyotonia" RELATED [Orphanet:324442] +synonym: "ARAN-NM" EXACT ABBREVIATION [Orphanet:324442] +synonym: "ARCMT2-NM" EXACT ABBREVIATION [Orphanet:324442] +synonym: "autosomal recessive axonal neuropathy with neuromyotonia" RELATED [] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia" EXACT [Orphanet:324442] synonym: "autosomal recessive neuromyotonia and axonal neuropathy" EXACT [DOID:0050526] -synonym: "Gamstorp-Wohlfart syndrome" EXACT [OMIM:137200] +synonym: "Gamstorp-Wohlfart syndrome" EXACT [DOID:0050526, icd11.foundation:1738677442, OMIM:137200] synonym: "myokymia, myotonia and muscle wasting" EXACT [DOID:0050526] -synonym: "myokymia, myotonia, and muscle wasting" RELATED [OMIM:137200] -synonym: "neuromyotonia and axonal neuropathy, autosomal recessive" RELATED [MONDO:Lexical, OMIM:137200] -synonym: "NMAN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137200] +synonym: "myokymia, myotonia, and muscle wasting" RELATED [] +synonym: "neuromyotonia and axonal neuropathy, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "NMAN" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050526 {source="MONDO:equivalentTo"} xref: GARD:12353 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:324442/attributed", source="Orphanet:324442/ntbt", source="Orphanet:324442"} @@ -155667,7 +155686,7 @@ synonym: "FDGC" EXACT ABBREVIATION [Orphanet:26106] synonym: "HDGC" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:26106] synonym: "hereditary diffuse cancer of stomach" EXACT [Orphanet:26106] synonym: "hereditary diffuse gastric adenocarcinoma" EXACT CLINGEN_LABEL [MONDO:patterns/hereditary, NCIT:C43295, Orphanet:26106] -synonym: "hereditary diffuse gastric cancer" EXACT [NCIT:C43295] +synonym: "hereditary diffuse gastric cancer" EXACT [DOID:0080764, NCIT:C43295, Orphanet:26106] synonym: "signet cell adenocarcinoma" RELATED [GARD:0010334] synonym: "signet ring cell gastric carcinoma" RELATED [GARD:0010334] synonym: "signet ring gastric carcinoma" RELATED [GARD:0010334] @@ -155693,7 +155712,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10900/heredi [Term] id: MONDO:0007649 name: obsolete gastric juice peptides -synonym: "gastric juice peptides" EXACT [OMIM:137220] +synonym: "gastric juice peptides" EXACT [] xref: OMIM:137220 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeNonDisease"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5850" xsd:anyURI @@ -155711,17 +155730,17 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Extranodal marginal zone B-cell lymphoma" EXACT [Orphanet:52417] synonym: "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C3898] -synonym: "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)" EXACT [NCIT:C3898] -synonym: "Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C3898] +synonym: "Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)" EXACT [] +synonym: "Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue" EXACT [DOID:0050909, NCIT:C3898] synonym: "extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)" RELATED [ONCOTREE:EMALT] synonym: "familial primary gastric lymphoma" RELATED [GARD:0006485] -synonym: "gastric lymphoma, primary" RELATED [OMIM:137245] +synonym: "gastric lymphoma, primary" RELATED [] synonym: "Immunocytoma" EXACT [NCIT:C3898] synonym: "lymphoma of mucosa-associated lymphoid tissue" EXACT [MONDO:design_pattern] -synonym: "lymphoma, MALT, somatic" EXACT [OMIM:137245, OMIM:genemap2] -synonym: "lymphoma, mucosa-associated lymphoid type" RELATED [OMIM:137245] -synonym: "MALT lymphoma" EXACT [NCIT:C3898, OMIM:137245] -synonym: "MALT-lymphoma" EXACT [NCIT:C3898] +synonym: "lymphoma, MALT, somatic" EXACT [] +synonym: "lymphoma, mucosa-associated lymphoid type" RELATED [] +synonym: "MALT lymphoma" EXACT [DOID:0050909, NCIT:C3898, OMIM:137245, Orphanet:52417] +synonym: "MALT-lymphoma" EXACT [] synonym: "MALToma" EXACT [NCIT:C3898, Orphanet:52417] synonym: "mucosa-associated lymphatic tissue lymphoma" EXACT [Orphanet:52417] synonym: "mucosa-associated lymphoid tissue lymphoma" EXACT [DOID:0050909, MONDO:patterns/location, NCIT:C3898, Orphanet:52417] @@ -155755,8 +155774,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:2069"} subset: orphanet_rare {source="Orphanet:2069"} subset: rare -synonym: "gastrocutaneous syndrome" EXACT [OMIM:137270] -synonym: "peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia" RELATED [OMIM:137270] +synonym: "gastrocutaneous syndrome" EXACT [icd11.foundation:1431211717, OMIM:137270, Orphanet:2069] +synonym: "peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia" RELATED [] xref: GARD:2438 {source="MONDO:GARD"} xref: icd11.foundation:1431211717 {source="MONDO:equivalentTo"} xref: MEDGEN:338154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -155778,20 +155797,20 @@ subset: orphanet_rare {source="Orphanet:2494"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial giant hypertrophic gastritis" EXACT [DOID:8757] -synonym: "gastritis, familial giant hypertrophic" RELATED [OMIM:137280] +synonym: "gastritis, familial giant hypertrophic" RELATED [] synonym: "gastroenteropathy, protein losing" RELATED [GARD:0002436] -synonym: "giant hypertrophic gastritis" EXACT [Orphanet:2494] +synonym: "giant hypertrophic gastritis" EXACT [icd11.foundation:1343994188, NCIT:C67277, Orphanet:2494] synonym: "giant hypertrophic gastropathy" RELATED [GARD:0002436] synonym: "giant hypertrophy of the gastric mucosa" RELATED [GARD:0002436] synonym: "giant rugal hypertrophy of stomach" EXACT [DOID:8757] -synonym: "hypertrophic gastritis" EXACT [DOID:8757] +synonym: "hypertrophic gastritis" EXACT [DOID:8757, NCIT:C67277] synonym: "hypertrophic gastropathy" EXACT [DOID:8757, GARD:0002436] synonym: "hypoproteinemic hypertrophic gastropathy" EXACT [Orphanet:2494] -synonym: "MENETRIER disease" EXACT [DOID:8757] -synonym: "Menetrier Disease" EXACT [NORD:1432] -synonym: "Menetrier disease" EXACT [OMIM:137280] +synonym: "MENETRIER disease" EXACT [DOID:8757, icd11.foundation:1343994188, NCIT:C67277, OMIM:137280] +synonym: "Menetrier Disease" EXACT [DOID:8757, icd11.foundation:1343994188, NCIT:C67277, NORD:1432, OMIM:137280] +synonym: "Menetrier disease" EXACT [DOID:8757, icd11.foundation:1343994188, NCIT:C67277, OMIM:137280] synonym: "Menetrier's disease" EXACT [NCIT:C67277] -synonym: "Ménétrier disease" EXACT [NCIT:C67277] +synonym: "Ménétrier disease" EXACT [NCIT:C67277, Orphanet:2494] xref: DOID:8757 {source="MONDO:equivalentTo", source="EFO:1000946"} xref: EFO:1000946 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:2436 {source="MONDO:GARD"} @@ -155823,7 +155842,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "genochondromatosis" EXACT [OMIM:137360] +synonym: "genochondromatosis" EXACT [icd11.foundation:1222756922, OMIM:137360] xref: GARD:10621 {source="MONDO:GARD"} xref: icd11.foundation:1222756922 {source="MONDO:equivalentTo"} xref: MEDGEN:224887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -155843,7 +155862,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10621/genoch [Term] id: MONDO:0007654 name: genu valgum, st. Helena familial -synonym: "genu valgum, hereditary pubertal" RELATED [OMIM:137370] +synonym: "genu valgum, hereditary pubertal" RELATED [] synonym: "genu valgum, st Helena familial" RELATED [GARD:0008429] synonym: "genu valgum, st. Helena familial" EXACT [OMIM:137370] synonym: "hereditary pubertal genu valgum" RELATED [GARD:0008429] @@ -155859,19 +155878,19 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8429/genu-va [Term] id: MONDO:0007655 name: fissured tongue -synonym: "congenital fissure of tongue" NARROW [DOID:11514] -synonym: "congenital plicated tongue" NARROW [DOID:11514] +synonym: "congenital fissure of tongue" NARROW [] +synonym: "congenital plicated tongue" NARROW [] synonym: "ectopic geographic tongue" RELATED [GARD:0006493] synonym: "erythema migrans" RELATED [GARD:0006493] synonym: "fissure of tongue" EXACT [DOID:11514] -synonym: "fissure of tongue, congenital" NARROW [DOID:11514, ICD9CM:750.13] -synonym: "Furrowed tongue" EXACT [DOID:11514] -synonym: "geographic and fissured tongue" RELATED [OMIM:137400] +synonym: "fissure of tongue, congenital" NARROW [ICD9CM:750.13] +synonym: "Furrowed tongue" EXACT [DOID:11514, ICD10CM:K14.5] +synonym: "geographic and fissured tongue" RELATED [] synonym: "geographic tongue and fissured tongue" EXACT [DOID:11514] -synonym: "glossitis, benign migratory" RELATED [OMIM:137400] -synonym: "lingua plicata" EXACT [DOID:11514, OMIM:137400] -synonym: "plicated tongue" EXACT [DOID:11514, ICD9CM:529.5] -synonym: "scrotal tongue" EXACT [DOID:11514, OMIM:137400] +synonym: "glossitis, benign migratory" RELATED [] +synonym: "lingua plicata" EXACT [DOID:11514] +synonym: "plicated tongue" EXACT [DOID:11514, ICD10CM:K14.5, ICD9CM:529.5] +synonym: "scrotal tongue" EXACT [DOID:11514, ICD10CM:K14.5] synonym: "tongue, fissured" EXACT [DOID:11514] xref: DOID:11514 {source="MONDO:equivalentTo"} xref: ICD10CM:K14.5 {source="DOID:11514", source="MONDO:equivalentTo"} @@ -155898,16 +155917,16 @@ subset: orphanet_rare {source="Orphanet:356"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "amyloidosis cerebral with spongiform encephalopathy" RELATED [GARD:0007690] -synonym: "amyloidosis, cerebral, with spongiform encephalopathy" RELATED [OMIM:137440] -synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS" RELATED [OMIM:137440] +synonym: "amyloidosis, cerebral, with spongiform encephalopathy" RELATED [] +synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS" RELATED [] synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system" RELATED [GARD:0007690] -synonym: "cerebral amyloid angiopathy, Prnp-related" RELATED [OMIM:137440] +synonym: "cerebral amyloid angiopathy, Prnp-related" RELATED [] synonym: "encephalopathy subacute spongiform Gerstmann-Straussler type" RELATED [GARD:0007690] -synonym: "encephalopathy, Subacute spongiform, Gerstmann-Straussler type" RELATED [OMIM:137440] +synonym: "encephalopathy, Subacute spongiform, Gerstmann-Straussler type" RELATED [] synonym: "Gerstmann Straussler Scheinker syndrome" RELATED [GARD:0007690] -synonym: "Gerstmann-Straussler disease" RELATED [MONDO:Lexical, OMIM:137440] -synonym: "Gerstmann-Straussler-Scheinker disease" EXACT [DOID:4249, OMIM:137440] -synonym: "GSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137440] +synonym: "Gerstmann-Straussler disease" RELATED [MONDO:Lexical] +synonym: "Gerstmann-Straussler-Scheinker disease" EXACT [DOID:4249, NCIT:C84727, OMIM:137440] +synonym: "GSD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "prion dementia" EXACT [DOID:4249, OMIM:137440] synonym: "subacute spongiform encephalopathy, Gerstmann-Straussler type" EXACT [Orphanet:356] xref: DOID:4249 {source="MONDO:equivalentTo"} @@ -155966,9 +155985,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:435329"} subset: orphanet_rare {source="Orphanet:435329"} subset: rare -synonym: "cemental dysplasia, periapical" RELATED [OMIM:137575] -synonym: "Cementomas, familial multiple" RELATED [OMIM:137575] -synonym: "GIGANTIFORM cementoma, familial" RELATED [OMIM:137575] +synonym: "cemental dysplasia, periapical" RELATED [] +synonym: "Cementomas, familial multiple" RELATED [] +synonym: "GIGANTIFORM cementoma, familial" RELATED [] synonym: "hereditary ossifying fibroma (disease)" EXACT [MONDO:patterns/hereditary] synonym: "intracortical fibrous dysplasia" RELATED [GARD:0010887] synonym: "Jaffe-Campanacci syndrome" RELATED [GARD:0010887] @@ -155990,16 +156009,16 @@ id: MONDO:0007661 name: Tourette syndrome def: "A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "chronic motor tics" RELATED [OMIM:137580] -synonym: "Gilles De 50A Tourette syndrome" RELATED [OMIM:137580] -synonym: "Gilles de la Tourette syndrome" RELATED [MONDO:Lexical, OMIM:137580, Orphanet:856] -synonym: "GTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137580, Orphanet:856] +synonym: "chronic motor tics" RELATED [] +synonym: "Gilles De 50A Tourette syndrome" RELATED [] +synonym: "Gilles de la Tourette syndrome" RELATED [MONDO:Lexical] +synonym: "GTS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Guinon's disease" EXACT [DOID:11119] -synonym: "motor-verbal tic disorder" EXACT [DOID:11119] +synonym: "motor-verbal tic disorder" EXACT [DOID:11119, icd11.foundation:119340957] synonym: "psychogenic tics" EXACT [DOID:11119] -synonym: "Tourette disease" EXACT [Orphanet:856] -synonym: "Tourette disorder" RELATED [OMIM:137580] -synonym: "Tourette syndrome" EXACT [DOID:11119, OMIM:137580] +synonym: "Tourette disease" EXACT [] +synonym: "Tourette disorder" RELATED [] +synonym: "Tourette syndrome" EXACT [DOID:11119, icd11.foundation:119340957, NCIT:C35078, OMIM:137580] synonym: "Tourette's syndrome" EXACT [NCIT:C35078] xref: DOID:11119 {source="MONDO:equivalentTo"} xref: EFO:0004895 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -156031,14 +156050,14 @@ def: "Any iridogoniodysgenesis in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:3026", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anterior segment dysgenesis 4" EXACT [OMIM:137600] -synonym: "ASGD4" RELATED ABBREVIATION [OMIM:137600] -synonym: "IRID2" EXACT ABBREVIATION [GARD:0003026, MONDO:Lexical, OMIM:137600] +synonym: "anterior segment dysgenesis 4" EXACT [DOID:0080609, OMIM:137600] +synonym: "ASGD4" RELATED ABBREVIATION [] +synonym: "IRID2" EXACT ABBREVIATION [GARD:0003026, MONDO:Lexical] synonym: "iridogoniodysgenesis caused by mutation in PITX2" EXACT [MONDO:design_pattern] -synonym: "iridogoniodysgenesis syndrome" BROAD [OMIM:137600] +synonym: "iridogoniodysgenesis syndrome" BROAD [] synonym: "iridogoniodysgenesis type 2" RELATED [GARD:0003026] synonym: "iridogoniodysgenesis, type 2" EXACT [MONDO:Lexical, OMIM:137600] -synonym: "iris hypoplasia with early-onset glaucoma, autosomal dominant" RELATED [OMIM:137600] +synonym: "iris hypoplasia with early-onset glaucoma, autosomal dominant" RELATED [] synonym: "PITX2 iridogoniodysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080609 {source="MONDO:equivalentTo"} xref: GARD:3026 {source="MONDO:GARD"} @@ -156072,13 +156091,13 @@ def: "Any juvenile glaucoma in which the cause of the disease is a mutation in t subset: gard_rare {source="GARD:9485", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glaucoma 1, open angle, 50" RELATED [OMIM:137750] +synonym: "glaucoma 1, open angle, 50" RELATED [] synonym: "glaucoma 1, open angle, A" EXACT [MONDO:Lexical, OMIM:137750] -synonym: "glaucoma 1, open angle, type A" EXACT [MONDORULE:1, OMIM:137750] -synonym: "glaucoma 1A, primary open angle" EXACT [OMIM:137750, OMIM:genemap2] +synonym: "glaucoma 1, open angle, type A" EXACT [MONDORULE:1] +synonym: "glaucoma 1A, primary open angle" EXACT [] synonym: "glaucoma hereditary, juvenile" RELATED [GARD:0009485] -synonym: "glaucoma, primary open angle, juvenile-onset, 1" RELATED [OMIM:137750] -synonym: "GLC1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137750] +synonym: "glaucoma, primary open angle, juvenile-onset, 1" RELATED [] +synonym: "GLC1A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "JOAG1" BROAD ABBREVIATION [GARD:0009485] synonym: "JOAG1A" EXACT ABBREVIATION [] synonym: "juvenile glaucoma caused by mutation in MYOC" EXACT [MONDO:design_pattern] @@ -156102,7 +156121,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007665 name: obsolete glaucoma 1, open angle, E def: "OBSOLETE. A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." [NCIT:C35394] -synonym: "chronic simple glaucoma" EXACT [DOID:1070] +synonym: "chronic simple glaucoma" EXACT [] xref: DOID:1070 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:H40.1 xref: ICD10CM:H40.11 {source="DOID:1070"} @@ -156126,7 +156145,7 @@ subset: ordo_disorder {source="Orphanet:2085"} subset: orphanet_rare {source="Orphanet:2085"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glaucoma and sleep apnea" RELATED [OMIM:137763] +synonym: "glaucoma and sleep apnea" RELATED [] synonym: "glaucoma sleep apnea" RELATED [GARD:0002483] xref: GARD:2483 {source="MONDO:GARD"} xref: MEDGEN:330749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -156151,11 +156170,11 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "mixed subependymoma-ependymoma" EXACT [DOID:4843] -synonym: "subependymal astrocytoma" EXACT [DOID:4843, NCIT:C3795, NCIT:C6989] +synonym: "subependymal astrocytoma" EXACT [DOID:4843, NCIT:C3795] synonym: "subependymal astrocytoma (formerly)" RELATED [GARD:0010070] -synonym: "subependymal astrocytoma NOS" RELATED EXCLUDE [DOID:4843] -synonym: "subependymal glioma" EXACT [NCIT:C3795] -synonym: "subependymoma" EXACT [MONDO:0006985, NCIT:C3795] +synonym: "subependymal astrocytoma NOS" RELATED EXCLUDE [] +synonym: "subependymal glioma" EXACT [DOID:4843, NCIT:C3795] +synonym: "subependymoma" EXACT [MONDO:0006985, NCIT:C3795, Orphanet:251639] synonym: "SUBEPENDYMOMA, benign" EXACT [NCIT:C3795] synonym: "WHO grade I ependymal neoplasm" EXACT [NCIT:C3795] synonym: "WHO grade I ependymal tumor" EXACT [DOID:4843, NCIT:C3795] @@ -156198,27 +156217,27 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atypical familial juvenile hyperuricemic nephropathy" EXACT [DOID:0111101] synonym: "atypical FJHN" EXACT [DOID:0111101] -synonym: "CAKUT with diabetes" EXACT [DOID:0111101] +synonym: "CAKUT with diabetes" EXACT [DOID:0111101, OMIM:137920] synonym: "congenital anomalies of the kidney and urinary tract with diabetes" EXACT [DOID:0111101, OMIM:137920] synonym: "familial hypoplastic glomerulocystic kidney" EXACT [DOID:0111101] synonym: "FJHN atypical" RELATED [GARD:0010221] -synonym: "FJHN, atypical" RELATED [OMIM:137920] -synonym: "glomerulocystic kidney disease, hypoplastic type" RELATED [OMIM:137920] -synonym: "glomerulocystic kidney, familial hypoplastic" RELATED [OMIM:137920] +synonym: "FJHN, atypical" RELATED [] +synonym: "glomerulocystic kidney disease, hypoplastic type" RELATED [] +synonym: "glomerulocystic kidney, familial hypoplastic" RELATED [] synonym: "hepatocyte nuclear Factor 1-beta-associated monogenic diabetes" EXACT [NCIT:C123018] synonym: "HNF1B-MODY" EXACT [Orphanet:93111] -synonym: "HNF1B-related renal cysts and diabetes syndrome" EXACT [Orphanet:93111] -synonym: "hyperuricemic nephropathy, familial juvenile, atypical" RELATED [OMIM:137920] +synonym: "HNF1B-related renal cysts and diabetes syndrome" EXACT [] +synonym: "hyperuricemic nephropathy, familial juvenile, atypical" RELATED [] synonym: "hypoplastic type glomerulocystic kidney disease" EXACT [DOID:0111101] synonym: "maturity onset diabetes of the Young, type 5" EXACT [NCIT:C123018] -synonym: "maturity-onset diabetes of the young type 5" RELATED [DOID:0111101] -synonym: "maturity-onset diabetes of the Young, type 5" RELATED [OMIM:137920] +synonym: "maturity-onset diabetes of the young type 5" RELATED [] +synonym: "maturity-onset diabetes of the Young, type 5" RELATED [] synonym: "MODY type 5" RELATED [GARD:0010221] -synonym: "MODY5" EXACT ABBREVIATION [DOID:0111101, Orphanet:93111] -synonym: "RCAD" EXACT ABBREVIATION [DOID:0111101, MONDO:Lexical, OMIM:137920] -synonym: "RCAD syndrome" EXACT [Orphanet:93111] -synonym: "renal cysts and diabetes syndrome" EXACT CLINGEN_LABEL [DOID:0111101, MONDO:Lexical, OMIM:137920] -synonym: "renal cysts-maturity-onset diabetes of the young syndrome" EXACT [Orphanet:93111] +synonym: "MODY5" EXACT ABBREVIATION [DOID:0111101, NCIT:C123018, Orphanet:93111] +synonym: "RCAD" EXACT ABBREVIATION [DOID:0111101, MONDO:Lexical, NCIT:C123018, OMIM:137920] +synonym: "RCAD syndrome" EXACT [NCIT:C123018, Orphanet:93111] +synonym: "renal cysts and diabetes syndrome" EXACT CLINGEN_LABEL [DOID:0111101, MONDO:Lexical, NCIT:C123018, OMIM:137920, Orphanet:93111] +synonym: "renal cysts-maturity-onset diabetes of the young syndrome" EXACT [] synonym: "renal dysfunction-early-onset diabetes syndrome" EXACT [Orphanet:93111] xref: DECIPHER:47 {source="MONDO:equivalentTo"} xref: DOID:0111101 {source="MONDO:equivalentTo"} @@ -156267,13 +156286,13 @@ subset: orphanet_rare {source="Orphanet:84090"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "fibronectin glomerulopathy" EXACT [MESH:C536826] +synonym: "fibronectin glomerulopathy" EXACT [icd11.foundation:1877494378, MESH:C536826, Orphanet:84090] synonym: "GFND" EXACT ABBREVIATION [Orphanet:84090] -synonym: "GFND1" RELATED ABBREVIATION [GARD:0009268, MESH:C536826, MONDO:Lexical, OMIM:137950] +synonym: "GFND1" RELATED ABBREVIATION [GARD:0009268, MESH:C536826, MONDO:Lexical] synonym: "GFND2" RELATED ABBREVIATION [MESH:C536826] synonym: "glomerular nephritis, familial, with fibronectin deposits" RELATED [MESH:C536826] -synonym: "glomerulopathy with fibronectin deposits" EXACT [Orphanet:84090] -synonym: "glomerulopathy with fibronectin deposits 1" RELATED [MESH:C536826, MONDO:Lexical, OMIM:137950] +synonym: "glomerulopathy with fibronectin deposits" EXACT [OMIMPS:137950, Orphanet:84090] +synonym: "glomerulopathy with fibronectin deposits 1" RELATED [MESH:C536826, MONDO:Lexical] synonym: "glomerulopathy with fibronectin deposits 2" RELATED [MESH:C536826] synonym: "glomerulopathy with giant fibrillar deposits" RELATED [GARD:0009268, MESH:C536826] synonym: "lobular glomerulopathy, familial" RELATED [MESH:C536826] @@ -156303,13 +156322,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:83454"} subset: orphanet_rare {source="Orphanet:83454"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial glomangioma" EXACT [MONDO:0004424, NCIT:C5350] -synonym: "glomangiomas, multiple" RELATED [OMIM:138000] -synonym: "glomangiomatosis" RELATED [Orphanet:83454] -synonym: "glomus tumors, multiple" RELATED [OMIM:138000] -synonym: "glomuvenous malformation" EXACT CLINGEN_LABEL [] -synonym: "GLOMUVENOUS malformations" RELATED [MONDO:Lexical, OMIM:138000] -synonym: "GVM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:138000] +synonym: "familial glomangioma" EXACT [DOID:7996, MONDO:0004424, NCIT:C5350] +synonym: "glomangiomas, multiple" RELATED [] +synonym: "glomangiomatosis" RELATED [] +synonym: "glomus tumors, multiple" RELATED [] +synonym: "glomuvenous malformation" EXACT CLINGEN_LABEL [icd11.foundation:2095305475, Orphanet:83454] +synonym: "GLOMUVENOUS malformations" RELATED [MONDO:Lexical] +synonym: "GVM" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hereditary glomangioma" EXACT [MONDO:patterns/hereditary, NCIT:C5350] synonym: "hereditary multiple glomangiomas" EXACT [Orphanet:83454] synonym: "multiple glomus tumors" EXACT [Orphanet:83454] @@ -156337,7 +156356,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007673 name: Glucoglycinuria -synonym: "Glucoglycinuria" EXACT [OMIM:138070] +synonym: "Glucoglycinuria" EXACT [icd11.foundation:2034546543, OMIM:138070] xref: icd11.foundation:2034546543 {source="MONDO:equivalentTo"} xref: MEDGEN:78686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562670 {source="MONDO:equivalentTo"} @@ -156348,7 +156367,7 @@ is_a: MONDO:0003847 {source="MESH:C562670/inferred"} ! hereditary disease [Term] id: MONDO:0007674 name: glucose-6-phosphate dehydrogenase-like -synonym: "G6PDL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:138110] +synonym: "G6PDL" RELATED ABBREVIATION [MONDO:Lexical] synonym: "glucose-6-phosphate dehydrogenase-like" EXACT [MONDO:Lexical, OMIM:138110] xref: MEDGEN:236373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:138110 {source="MONDO:equivalentTo"} @@ -156368,7 +156387,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007676 name: glutathione transferase activity toward trans-stilbene oxide synonym: "glutathione transferase activity toward trans-stilbene oxide" EXACT [OMIM:138340] -synonym: "trans-stilbene oxide glutathione transferase activity" RELATED [OMIM:138340] +synonym: "trans-stilbene oxide glutathione transferase activity" RELATED [] xref: MEDGEN:330718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:138340 {source="MONDO:equivalentTo"} xref: UMLS:C1841901 {source="MEDGEN:330718", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -156377,11 +156396,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007677 name: hyperglycinuria -synonym: "glycinuria with or without oxalate nephrolithiasis" RELATED [OMIM:138500] -synonym: "glycinuria with or without oxalate urolithiasis" RELATED [OMIM:138500] +synonym: "glycinuria with or without oxalate nephrolithiasis" RELATED [] +synonym: "glycinuria with or without oxalate urolithiasis" RELATED [] synonym: "hyperglycinuria" EXACT [MONDO:ambiguous, OMIM:138500] synonym: "hyperglycinuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "Iminoglycinuria type 2" RELATED [OMIM:138500] +synonym: "Iminoglycinuria type 2" RELATED [] xref: HP:0003108 {source="MONDO:otherHierarchy"} xref: MEDGEN:107456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563009 {source="MONDO:equivalentTo"} @@ -156395,7 +156414,7 @@ property_value: IAO:0000589 "hyperglycinuria (disease)" xsd:string id: MONDO:0007678 name: obsolete glycoprotein, renal comment: This is an electrophetic finding and not a disease. -synonym: "glycoprotein, renal" EXACT [OMIM:138710] +synonym: "glycoprotein, renal" EXACT [] xref: OMIM:138710 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2245" xsd:anyURI is_obsolete: true @@ -156411,9 +156430,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2090"} subset: orphanet_rare {source="Orphanet:2090"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GMS syndrome" EXACT [OMIM:138770] -synonym: "Goniodysgenesis--intellectual disability--short stature syndrome" RELATED [OMIM:138770] -synonym: "Goniodysgenesis--mental retardation--short stature syndrome" RELATED DEPRECATED [OMIM:138770] +synonym: "GMS syndrome" EXACT [OMIM:138770, Orphanet:2090] +synonym: "Goniodysgenesis--intellectual disability--short stature syndrome" RELATED [] +synonym: "Goniodysgenesis--mental retardation--short stature syndrome" RELATED DEPRECATED [] synonym: "Goniodysgenesis-intellectual disability-short stature syndrome" EXACT [Orphanet:2090] xref: GARD:2523 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2090", source="Orphanet:2090/attributed", source="Orphanet:2090/ntbt"} @@ -156442,11 +156461,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Daneman Davy Mancer syndrome" RELATED [GARD:0001671] synonym: "Daneman-Davy-Mancer syndrome" EXACT [Orphanet:2091] -synonym: "goiter, multinodular, cystic renal disease, and digital anomalies" RELATED [OMIM:138790] -synonym: "MNG/CRD/Da" RELATED [OMIM:138790] +synonym: "goiter, multinodular, cystic renal disease, and digital anomalies" RELATED [] +synonym: "MNG/CRD/Da" RELATED [] synonym: "multinodular goiter - cystic kidney - polydactyly" RELATED [GARD:0001671] synonym: "multinodular goiter, cystic renal disease, and digital anomalies" RELATED [GARD:0001671] -synonym: "multinodular goiter/cystic renal disease/digital anomalies" RELATED [OMIM:138790] +synonym: "multinodular goiter/cystic renal disease/digital anomalies" RELATED [] synonym: "multinodular goitre - cystic kidney - polydactyly" RELATED OMO:0003005 [] synonym: "thyroid-renal-digital anomalies" EXACT [Orphanet:2091] xref: GARD:1671 {source="MONDO:GARD"} @@ -156470,7 +156489,7 @@ subset: ordo_disorder {source="Orphanet:276399"} subset: orphanet_rare {source="Orphanet:276399"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "euthyroid goiter" BROAD [OMIM:138800] +synonym: "euthyroid goiter" BROAD [] synonym: "euthyroid goitre" BROAD OMO:0003005 [] synonym: "familial MNG" EXACT [Orphanet:276399] synonym: "FMNG" EXACT ABBREVIATION [Orphanet:276399] @@ -156478,7 +156497,7 @@ synonym: "goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" EX synonym: "goiter, nontoxic, with Intrathyroidal calcification" EXACT [OMIM:138800] synonym: "MNG1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:138800] synonym: "multinodular goiter, adolescent" EXACT [OMIM:138800] -synonym: "simple goiter" BROAD [OMIM:138800] +synonym: "simple goiter" BROAD [] synonym: "simple goitre" BROAD OMO:0003005 [] xref: GARD:17278 {source="MONDO:GARD"} xref: ICD10CM:E04.2 {source="Orphanet:276399/attributed", source="Orphanet:276399/ntbt", source="Orphanet:276399"} @@ -156502,7 +156521,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007682 name: granddad syndrome synonym: "granddad syndrome" EXACT [OMIM:138920] -synonym: "Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance" RELATED [OMIM:138920] +synonym: "Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance" RELATED [] xref: MEDGEN:330701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564211 {source="MONDO:equivalentTo"} xref: OMIM:138920 {source="MONDO:equivalentTo"} @@ -156519,7 +156538,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2097"} subset: orphanet_rare {source="Orphanet:2097"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Grant syndrome" EXACT [OMIM:138930] +synonym: "Grant syndrome" EXACT [icd11.foundation:1320218486, OMIM:138930, Orphanet:2097] synonym: "persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia" RELATED [GARD:0002559] xref: GARD:2559 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:2097/attributed", source="Orphanet:2097/ntbt", source="Orphanet:2097"} @@ -156546,7 +156565,7 @@ replaced_by: MONDO:0010600 [Term] id: MONDO:0007685 name: granulosis rubra nasi -synonym: "granulosis rubra nasi" EXACT [OMIM:139000] +synonym: "granulosis rubra nasi" EXACT [icd11.foundation:1871134805, OMIM:139000] xref: icd11.foundation:1871134805 {source="MONDO:equivalentTo"} xref: ICD9:705.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:78096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -156569,11 +156588,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Alpha storage pool deficiency" EXACT [Orphanet:721] synonym: "BDPLT4" EXACT ABBREVIATION [DOID:0111044] -synonym: "bleeding disorder, Platelet-type, 4" RELATED [OMIM:139090] +synonym: "bleeding disorder, Platelet-type, 4" RELATED [] synonym: "GPS" EXACT ABBREVIATION [DOID:0111044, MONDO:Lexical, OMIM:139090, Orphanet:721] -synonym: "gray platelet syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C84741, OMIM:139090] +synonym: "gray platelet syndrome" EXACT CLINGEN_LABEL [DOID:0111044, icd11.foundation:1818085572, MONDO:Lexical, NCIT:C84741, OMIM:139090, Orphanet:721] synonym: "marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins" RELATED [GARD:0002562] -synonym: "platelet alpha-granule deficiency" EXACT [DOID:0111044, Orphanet:721] +synonym: "platelet alpha-granule deficiency" EXACT [DOID:0111044, OMIM:139090, Orphanet:721] synonym: "platelet-type bleeding disorder 4" EXACT [DOID:0111044] xref: DOID:0111044 {source="MONDO:equivalentTo"} xref: GARD:2562 {source="MONDO:GARD"} @@ -156597,7 +156616,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2562/gray-pl id: MONDO:0007687 name: graying of hair, precocious synonym: "graying of hair, precocious" EXACT [OMIM:139100] -synonym: "White hair, premature" RELATED [OMIM:139100] +synonym: "White hair, premature" RELATED [] xref: MEDGEN:374795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564209 {source="MONDO:equivalentTo"} xref: OMIM:139100 {source="MONDO:equivalentTo"} @@ -156619,12 +156638,12 @@ subset: rare synonym: "facial dysmorphism - intellectual deficit - short stature - hearing loss" RELATED [GARD:0002572] synonym: "facial dysmorphism-intellectual disability-short stature-hearing loss syndrome" EXACT [Orphanet:2588] synonym: "Growth mental deficiency syndrome of Myhre" RELATED [GARD:0002572] -synonym: "Growth-mental deficiency syndrome of Myhre" RELATED [OMIM:139210] +synonym: "Growth-mental deficiency syndrome of Myhre" RELATED [] synonym: "LAPS syndrome" RELATED [GARD:0002572] -synonym: "laryngotracheal stenosis, arthropathy, prognathism, and short stature" RELATED [OMIM:139210] -synonym: "MYHRE syndrome" RELATED [OMIM:139210] -synonym: "Myhre syndrome" EXACT [MONDO:Lexical, OMIM:139210] -synonym: "MYHRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:139210] +synonym: "laryngotracheal stenosis, arthropathy, prognathism, and short stature" RELATED [] +synonym: "MYHRE syndrome" RELATED [] +synonym: "Myhre syndrome" EXACT [MONDO:Lexical, NCIT:C123815, OMIM:139210, Orphanet:2588] +synonym: "MYHRS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:2572 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2588/attributed", source="Orphanet:2588/ntbt", source="Orphanet:2588"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -156649,10 +156668,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2572/myhre-s [Term] id: MONDO:0007689 name: guanylate kinase 3 -synonym: "guanylate KINASE 3" RELATED [OMIM:139290] +synonym: "guanylate KINASE 3" RELATED [] synonym: "guanylate kinase 3" EXACT [MONDO:Lexical, OMIM:139290] -synonym: "guanylate kinase type 3" EXACT [MONDORULE:1, OMIM:139290] -synonym: "GUK3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:139290] +synonym: "guanylate kinase type 3" EXACT [MONDORULE:1] +synonym: "GUK3" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:331129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:139290 {source="MONDO:equivalentTo"} xref: UMLS:C1841763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331129"} @@ -156669,8 +156688,8 @@ subset: orphanet_rare {source="Orphanet:178345"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AEXS" EXACT ABBREVIATION [DOID:0090122, MONDO:Lexical, OMIM:139300, Orphanet:178345] -synonym: "aromatase activity, increased" RELATED [OMIM:139300] -synonym: "aromatase excess syndrome" EXACT [MESH:C000591739, MONDO:Lexical, OMIM:139300] +synonym: "aromatase activity, increased" RELATED [] +synonym: "aromatase excess syndrome" EXACT [DOID:0090122, icd11.foundation:191989744, MESH:C000591739, MONDO:Lexical, OMIM:139300, Orphanet:178345] synonym: "familial hyperestrogenism" EXACT [DOID:0090122, Orphanet:178345] synonym: "gynecomastia, familial, due to increased aromatase activity" EXACT [MESH:C000591739] synonym: "gynecomastia, hereditary" EXACT [MESH:C000591739] @@ -156705,10 +156724,10 @@ subset: gard_rare {source="GARD:18211", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AIDP" EXACT ABBREVIATION [OMIM:139393] -synonym: "GBS" RELATED ABBREVIATION [OMIM:139393] +synonym: "AIDP" EXACT ABBREVIATION [] +synonym: "GBS" RELATED ABBREVIATION [] synonym: "Guillain-Barre syndrome, familial" EXACT [OMIM:139393] -synonym: "neuropathy, inflammatory demyelinating" EXACT [OMIM:139393, OMIM:genemap2] +synonym: "neuropathy, inflammatory demyelinating" EXACT [] synonym: "polyneuropathy, inflammatory demyelinating, acute" EXACT [OMIM:139393] xref: EFO:0009538 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:18211 {source="MONDO:GARD"} @@ -156737,8 +156756,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007692 name: obsolete hairy ears comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "hairy ears" EXACT [OMIM:139500] -synonym: "hypertrichosis pinnae auris" RELATED [OMIM:139500] +synonym: "hairy ears" EXACT [] +synonym: "hypertrichosis pinnae auris" RELATED [] xref: MESH:C562484 {source="MONDO:obsoleteEquivalent"} xref: OMIM:139500 {source="MONDO:obsoleteEquivalent"} xref: SCTID:89000008 {source="MONDO:obsoleteEquivalent"} @@ -156757,9 +156776,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2220"} subset: orphanet_rare {source="Orphanet:2220"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hairy elbows" EXACT [OMIM:139600, Orphanet:2220] +synonym: "hairy elbows" EXACT [OMIM:139600] synonym: "hairy elbows syndrome" EXACT [Orphanet:2220] -synonym: "hypertrichosis cubiti" RELATED [GARD:0000143, OMIM:139600] +synonym: "hypertrichosis cubiti" RELATED [GARD:0000143] synonym: "MacDermot-Patton-Williams syndrome" EXACT [Orphanet:2220] xref: GARD:143 {source="MONDO:GARD"} xref: ICD10CM:Q84.2 {source="Orphanet:2220", source="Orphanet:2220/attributed", source="Orphanet:2220/ntbt"} @@ -156787,7 +156806,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8465/hairy-n [Term] id: MONDO:0007695 name: hairy palms and soles -synonym: "circumscribed hairy Dysembryoplasia of palms" RELATED [OMIM:139650] +synonym: "circumscribed hairy Dysembryoplasia of palms" RELATED [] synonym: "hairy cutaneous malformations of palms and soles" RELATED [GARD:0008461] synonym: "hairy palms and soles" EXACT [OMIM:139650] synonym: "thickened hair-bearing skin on the palms of both hands" RELATED [GARD:0008461] @@ -156809,7 +156828,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial syndrome of short stature, deformities of the hands and feet, and unusual facies" RELATED [GARD:0002593] synonym: "hand and foot deformity - flat facies" RELATED [GARD:0002593] -synonym: "hand and foot deformity with flat facies" RELATED [OMIM:139750] +synonym: "hand and foot deformity with flat facies" RELATED [] synonym: "hand and foot deformity-flat facies syndrome" EXACT [Orphanet:1927] xref: GARD:2593 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1927/attributed", source="Orphanet:1927/ntbt", source="Orphanet:1927"} @@ -156843,9 +156862,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hand foot genital syndrome" RELATED [GARD:0002594] synonym: "hand foot uterus syndrome" RELATED [GARD:0002594] -synonym: "hand-foot-genital syndrome" EXACT [MONDO:Lexical, OMIM:140000] +synonym: "hand-foot-genital syndrome" EXACT [DOID:0060739, MONDO:Lexical, OMIM:140000, Orphanet:2438] synonym: "hand-foot-uterus syndrome" EXACT [DOID:0060739, OMIM:140000, Orphanet:2438] -synonym: "HFG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:140000] +synonym: "HFG" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HFG syndrome" RELATED [GARD:0002594] synonym: "HFGS" EXACT ABBREVIATION [DOID:0060739, Orphanet:2438] synonym: "HFU syndrome" RELATED [GARD:0002594] @@ -156879,34 +156898,34 @@ id: MONDO:0007699 name: Hashimoto thyroiditis def: "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." [NCIT:C27191] subset: otar {source="MONDO:OTAR"} -synonym: "autoimmune thyroiditis" RELATED [DOID:7188] +synonym: "autoimmune thyroiditis" RELATED [] synonym: "chronic lymphocytic thyroiditides" RELATED [MESH:D050031] -synonym: "chronic lymphocytic thyroiditis" EXACT [DOID:7188] +synonym: "chronic lymphocytic thyroiditis" EXACT [DOID:7188, icd11.foundation:972507934, NCIT:C27191] synonym: "disease, Hashimoto" RELATED [MESH:D050031] synonym: "disease, Hashimoto's" RELATED [MESH:D050031] -synonym: "Hashimoto disease" EXACT [NCIT:C27191] -synonym: "Hashimoto hypothyroidism" EXACT [Orphanet:855] -synonym: "Hashimoto struma" RELATED [MESH:D050031, OMIM:140300] +synonym: "Hashimoto disease" EXACT [icd11.foundation:972507934, NCIT:C27191] +synonym: "Hashimoto hypothyroidism" EXACT [icd11.foundation:972507934] +synonym: "Hashimoto struma" RELATED [MESH:D050031] synonym: "Hashimoto syndrome" RELATED [MESH:D050031] synonym: "Hashimoto thyroiditides" RELATED [MESH:D050031] -synonym: "Hashimoto thyroiditis" EXACT [DOID:7188, MESH:D050031, OMIM:140300] -synonym: "Hashimoto's disease" EXACT [DOID:7188, MESH:D050031] +synonym: "Hashimoto thyroiditis" EXACT [DOID:7188, icd11.foundation:972507934, MESH:D050031, NCIT:C27191, OMIM:140300] +synonym: "Hashimoto's disease" EXACT [DOID:7188, MESH:D050031, NCIT:C27191] synonym: "Hashimoto's struma" RELATED [MESH:D050031] synonym: "Hashimoto's syndrome" EXACT [DOID:7188, MESH:D050031] synonym: "Hashimoto's syndromes" RELATED [MESH:D050031] -synonym: "Hashimoto's thyroiditis" EXACT [DOID:7188, MONDO:0005268] +synonym: "Hashimoto's thyroiditis" EXACT [DOID:7188, ICD10CM:E06.3, MONDO:0005268, NCIT:C27191] synonym: "Hashimotos disease" RELATED [MESH:D050031] synonym: "Hashimotos syndrome" RELATED [MESH:D050031] synonym: "HT" RELATED ABBREVIATION [MESH:D050031] -synonym: "Ht" RELATED [OMIM:140300] -synonym: "hypothyroidism, autoimmune" RELATED [OMIM:140300] +synonym: "Ht" RELATED [] +synonym: "hypothyroidism, autoimmune" RELATED [] synonym: "hypothyroidism, autoimmune thyroid autoantibodies, included" RELATED [MESH:D050031] synonym: "lymphocytic thyroiditides, chronic" RELATED [MESH:D050031] -synonym: "lymphocytic thyroiditis" BROAD [DOID:7188, NCIT:C38766] +synonym: "lymphocytic thyroiditis" BROAD [] synonym: "lymphocytic thyroiditis, chronic" RELATED [MESH:D050031] synonym: "syndrome, Hashimoto's" RELATED [MESH:D050031] synonym: "syndromes, Hashimoto's" RELATED [MESH:D050031] -synonym: "thyroid autoantibodies" RELATED [OMIM:140300] +synonym: "thyroid autoantibodies" RELATED [] synonym: "thyroiditides, chronic lymphocytic" RELATED [MESH:D050031] synonym: "thyroiditides, Hashimoto" RELATED [MESH:D050031] synonym: "thyroiditis, chronic lymphocytic" RELATED [MESH:D050031] @@ -156944,10 +156963,10 @@ subset: ordo_disorder {source="Orphanet:2118"} subset: orphanet_rare {source="Orphanet:2118"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency" EXACT [Orphanet:2118] -synonym: "4-HPPD deficiency" EXACT [Orphanet:2118] -synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT [Orphanet:2118] -synonym: "hawkinsinuria" EXACT CLINGEN_LABEL [OMIM:140350] +synonym: "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency" EXACT [DOID:0111362, icd11.foundation:786595759, Orphanet:2118] +synonym: "4-HPPD deficiency" EXACT [DOID:0111362, icd11.foundation:786595759, Orphanet:2118] +synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT [DOID:0111362, icd11.foundation:786595759, Orphanet:2118] +synonym: "hawkinsinuria" EXACT CLINGEN_LABEL [DOID:0111362, icd11.foundation:786595759, OMIM:140350, Orphanet:2118] xref: DOID:0111362 {source="MONDO:equivalentTo"} xref: GARD:5668 {source="MONDO:GARD"} xref: ICD10CM:E70.2 {source="Orphanet:2118", source="Orphanet:2118/attributed", source="Orphanet:2118/ntbt"} @@ -156972,9 +156991,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "heart block progressive familial type 2" RELATED [GARD:0004879] synonym: "PFHB2" EXACT ABBREVIATION [DOID:0111075, MONDO:Lexical, OMIM:140400] -synonym: "PFHBII" RELATED ABBREVIATION [OMIM:140400] +synonym: "PFHBII" RELATED ABBREVIATION [] synonym: "progressive familial heart block type 2" RELATED [GARD:0004879] -synonym: "progressive familial heart block, type II" RELATED [MONDO:Lexical, OMIM:140400] +synonym: "progressive familial heart block, type II" RELATED [MONDO:Lexical] xref: DOID:0111075 {source="MONDO:equivalentTo"} xref: GARD:4879 {source="MONDO:GARD"} xref: ICD9:426.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -157001,7 +157020,7 @@ subset: rare synonym: "atriodigital dysplasia type 3" EXACT [Orphanet:1342] synonym: "brachydactyly and intraventricular conduction defect" RELATED [GARD:0002614] synonym: "Cardiomelic syndrome type 3" EXACT [Orphanet:1342] -synonym: "heart-hand syndrome, Spanish type" EXACT [OMIM:140450, Orphanet:1342] +synonym: "heart-hand syndrome, Spanish type" EXACT [icd11.foundation:1878745129, OMIM:140450, Orphanet:1342] synonym: "heart-limb syndrome type 3" EXACT [Orphanet:1342] synonym: "upper limb malformations and congenital cardiac anomalies" RELATED [GARD:0002614] xref: GARD:2614 {source="MONDO:GARD"} @@ -157028,16 +157047,16 @@ replaced_by: MONDO:0009327 id: MONDO:0007704 name: osteoarthritis susceptibility 2 subset: predisposition -synonym: "Dipoa" RELATED [OMIM:140600] -synonym: "hand osteoarthritis" RELATED [OMIM:140600] -synonym: "Heberden nodes" RELATED [OMIM:140600] +synonym: "Dipoa" RELATED [] +synonym: "hand osteoarthritis" RELATED [] +synonym: "Heberden nodes" RELATED [] synonym: "MATN3 osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "OADIP" RELATED ABBREVIATION [OMIM:140600] -synonym: "OS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:140600] +synonym: "OADIP" RELATED ABBREVIATION [] +synonym: "OS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "osteoarthritis caused by mutation in MATN3" EXACT [MONDO:design_pattern] -synonym: "osteoarthritis of distal interphalangeal joints" RELATED [OMIM:140600] +synonym: "osteoarthritis of distal interphalangeal joints" RELATED [] synonym: "osteoarthritis susceptibility 2" EXACT [MONDO:Lexical, OMIM:140600] -synonym: "osteoarthritis susceptibility type 2" EXACT [MONDORULE:1, OMIM:140600] +synonym: "osteoarthritis susceptibility type 2" EXACT [MONDORULE:1] xref: MEDGEN:854385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:140600 {source="MONDO:equivalentTo"} xref: UMLS:C3887526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854385"} @@ -157053,8 +157072,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Heinz body anemias" RELATED [OMIM:140700] -synonym: "Heinz body anemias, alpha-" EXACT [OMIM:140700, OMIM:genemap2] +synonym: "Heinz body anemias" RELATED [] +synonym: "Heinz body anemias, alpha-" EXACT [] xref: DOID:0111363 {source="MONDO:equivalentTo"} xref: HP:0005511 {source="MONDO:otherHierarchy"} xref: ICD10CM:D58.2 {source="Orphanet:178330", source="Orphanet:178330/attributed", source="Orphanet:178330/ntbt"} @@ -157073,9 +157092,9 @@ name: cavernous hemangiomas of face-supraumbilical midline raphe syndrome subset: ordo_malformation_syndrome {source="Orphanet:2124"} subset: otar {source="MONDO:OTAR"} synonym: "hemangiomas cavernous of face supraumbilical midline raphe" RELATED [GARD:0008524] -synonym: "hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe" RELATED [OMIM:140850] -synonym: "raphe, supraumbilical Midline, with cavernous Facial hemangiomas" RELATED [OMIM:140850] -synonym: "sternal nonunion with supraumbilical raphe" RELATED [OMIM:140850] +synonym: "hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe" RELATED [] +synonym: "raphe, supraumbilical Midline, with cavernous Facial hemangiomas" RELATED [] +synonym: "sternal nonunion with supraumbilical raphe" RELATED [] synonym: "supraumbilical midabdominal raphe and facial cavernous hemangiomas" RELATED [GARD:0008524] xref: ICD10CM:D18.0 {source="Orphanet:2124", source="Orphanet:2124/attributed", source="Orphanet:2124/ntbt"} xref: MEDGEN:99171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -157116,8 +157135,8 @@ synonym: "hemangioma-thrombocytopenia syndrome" EXACT [OMIM:141000, Orphanet:233 synonym: "hemangiomatosis with thrombocytopenia" EXACT [NCIT:C3821] synonym: "Kasabach Merritt phenomenon" EXACT [GARD:0000070] synonym: "Kasabach Merritt syndrome" EXACT [GARD:0000070] -synonym: "Kasabach-Merritt Phenomenon" EXACT [NORD:1320] -synonym: "Kasabach-Merritt syndrome" EXACT [OMIM:141000] +synonym: "Kasabach-Merritt Phenomenon" EXACT [NORD:1320, Orphanet:2330] +synonym: "Kasabach-Merritt syndrome" EXACT [icd11.foundation:2059601885, NCIT:C3821, OMIM:141000] synonym: "KMP" RELATED ABBREVIATION [GARD:0000070] synonym: "thrombocytopenia-hemangioma syndrome" EXACT [GARD:0000070, NCIT:C3821] synonym: "thrombopenia-hemangioma syndrome" EXACT [NCIT:C3821] @@ -157141,11 +157160,11 @@ is_a: MONDO:0003847 {source="MONDO:Redundant"} ! hereditary disease [Term] id: MONDO:0007709 name: hematuria, benign familial, 1 -synonym: "BFH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:141200] -synonym: "hematuria, benign familial" BROAD [MONDO:Lexical, OMIM:141200] -synonym: "hematuria, familial benign" BROAD [OMIM:141200, OMIM:genemap2] -synonym: "thin membrane nephropathy" RELATED [OMIM:141200] -synonym: "thin-basement-membrane nephropathy" RELATED [OMIM:141200] +synonym: "BFH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hematuria, benign familial" BROAD [MONDO:Lexical] +synonym: "hematuria, familial benign" BROAD [] +synonym: "thin membrane nephropathy" RELATED [] +synonym: "thin-basement-membrane nephropathy" RELATED [] xref: OMIM:141200 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease is_a: MONDO:0957317 {source="OMIM:141200", source="OMIMPS:141200"} ! hematuria, benign familial @@ -157165,12 +157184,12 @@ subset: ordo_disorder {source="Orphanet:1214"} subset: orphanet_rare {source="Orphanet:1214"} subset: rare synonym: "hemifacial atrophy" EXACT [Orphanet:1214] -synonym: "hemifacial atrophy, progressive" RELATED [MONDO:Lexical, OMIM:141300] -synonym: "HFA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:141300] -synonym: "parry-Romberg syndrome" EXACT [DOID:1757, OMIM:141300, Orphanet:1214] -synonym: "PHA" RELATED ABBREVIATION [Orphanet:1214] +synonym: "hemifacial atrophy, progressive" RELATED [MONDO:Lexical] +synonym: "HFA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "parry-Romberg syndrome" EXACT [DOID:1757, NCIT:C116916, OMIM:141300, Orphanet:1214] +synonym: "PHA" RELATED ABBREVIATION [] synonym: "progressive facial hemiatrophy" EXACT [Orphanet:1214] -synonym: "progressive hemifacial atrophy" EXACT [NCIT:C116916] +synonym: "progressive hemifacial atrophy" EXACT [NCIT:C116916, Orphanet:1214] synonym: "Romberg hemi-facial atrophy" RELATED [GARD:0007338] synonym: "Romberg syndrome" EXACT [Orphanet:1214] xref: DOID:1757 {source="MONDO:equivalentTo"} @@ -157201,9 +157220,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1241"} subset: orphanet_rare {source="Orphanet:1241"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bencze syndrome" EXACT [GARD:0002633, OMIM:141350] +synonym: "Bencze syndrome" EXACT [GARD:0002633, OMIM:141350, Orphanet:1241] synonym: "hemifacial hyperplasia strabismus" RELATED [GARD:0002633] -synonym: "hemifacial hyperplasia with strabismus" RELATED [OMIM:141350] +synonym: "hemifacial hyperplasia with strabismus" RELATED [] synonym: "hemifacial hyperplasia-strabismus syndrome" EXACT [Orphanet:1241] xref: GARD:2633 {source="MONDO:GARD"} xref: ICD10CM:Q67.4 {source="Orphanet:1241", source="Orphanet:1241/attributed", source="Orphanet:1241/ntbt"} @@ -157228,14 +157247,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:2549"} subset: orphanet_rare {source="Orphanet:2549"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Goldenhar syndrome with ipsilateral radial defect" RELATED [OMIM:141400] -synonym: "hemifacial microsomia with radial defects" RELATED [OMIM:141400] +synonym: "Goldenhar syndrome with ipsilateral radial defect" RELATED [] +synonym: "hemifacial microsomia with radial defects" RELATED [] synonym: "hemifacial microsomia-radial defects syndrome" EXACT [Orphanet:2549] synonym: "microsomia hemifacial radial defects" RELATED [GARD:0003653] synonym: "Moeschler Clarren syndrome" RELATED [GARD:0003653] synonym: "Moeschler-Clarren syndrome" EXACT [Orphanet:2549] -synonym: "Oavs with radial defect" RELATED [OMIM:141400] -synonym: "oculoauriculovertebral spectrum with radial defect" RELATED [OMIM:141400] +synonym: "Oavs with radial defect" RELATED [] +synonym: "oculoauriculovertebral spectrum with radial defect" RELATED [] xref: GARD:3653 {source="MONDO:GARD"} xref: ICD10CM:Q75.8 {source="Orphanet:2549/attributed", source="Orphanet:2549/ntbt", source="Orphanet:2549"} xref: MEDGEN:67392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -157259,8 +157278,8 @@ subset: orphanet_rare {source="Orphanet:221083"} subset: rare synonym: "facial hemispasm" EXACT [Orphanet:221083] synonym: "focal myoclonus of face" EXACT [Orphanet:221083] -synonym: "hemifacial spasm" RELATED [Orphanet:221083] -synonym: "hemifacial spasm, familial" RELATED [OMIM:141405] +synonym: "hemifacial spasm" RELATED [] +synonym: "hemifacial spasm, familial" RELATED [] xref: GARD:17137 {source="MONDO:GARD"} xref: ICD10CM:G51.3 {source="Orphanet:221083/e", source="MONDO:equivalentTo", source="Orphanet:221083"} xref: icd11.foundation:353312397 {source="MONDO:equivalentTo", source="Orphanet:221083", source="https://orcid.org/0000-0002-4142-7153"} @@ -157301,35 +157320,35 @@ subset: ordo_disorder {source="Orphanet:98791"} subset: orphanet_rare {source="Orphanet:98791"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alpha thalassemia-intellectual disability syndrome" EXACT [Orphanet:98791] -synonym: "Alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [Orphanet:98791] -synonym: "alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [DOID:0110029] -synonym: "Alpha thalassemia-mental retardation syndrome" EXACT DEPRECATED [Orphanet:98791] +synonym: "Alpha thalassemia-intellectual disability syndrome" EXACT [] +synonym: "Alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [DOID:0110029, Orphanet:98791] +synonym: "alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [DOID:0110029, Orphanet:98791] +synonym: "Alpha thalassemia-mental retardation syndrome" EXACT DEPRECATED [] synonym: "alpha thalassemia-retardation syndrome" EXACT [DOID:0110029] -synonym: "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" EXACT [DOID:0110029] -synonym: "Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16" EXACT [MONDORULE:2, Orphanet:98791] -synonym: "ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related" RELATED [OMIM:141750] -synonym: "Alpha-thalassemia/intellectual disability syndrome, deletion-type" RELATED [OMIM:141750] -synonym: "alpha-thalassemia/intellectual disability syndrome, deletion-type" EXACT [DOID:0110029] -synonym: "alpha-thalassemia/intellectual disability syndrome, type 1" EXACT [DOID:0110029] -synonym: "ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related" RELATED DEPRECATED [OMIM:141750] -synonym: "Alpha-thalassemia/mental retardation syndrome, deletion-type" RELATED DEPRECATED [OMIM:141750] -synonym: "alpha-thalassemia/mental retardation syndrome, deletion-type" EXACT DEPRECATED [DOID:0110029] +synonym: "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" EXACT [DOID:0110029, Orphanet:98791] +synonym: "Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16" EXACT [MONDORULE:2] +synonym: "ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related" RELATED [] +synonym: "Alpha-thalassemia/intellectual disability syndrome, deletion-type" RELATED [] +synonym: "alpha-thalassemia/intellectual disability syndrome, deletion-type" EXACT [] +synonym: "alpha-thalassemia/intellectual disability syndrome, type 1" EXACT [] +synonym: "ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related" RELATED DEPRECATED [] +synonym: "Alpha-thalassemia/mental retardation syndrome, deletion-type" RELATED DEPRECATED [] +synonym: "alpha-thalassemia/mental retardation syndrome, deletion-type" EXACT DEPRECATED [DOID:0110029, OMIM:141750] synonym: "alpha-thalassemia/mental retardation syndrome, type 1" EXACT DEPRECATED [DOID:0110029] synonym: "ATR syndrome linked to chromosome 16" EXACT [DOID:0110029, Orphanet:98791] synonym: "ATR syndrome, deletion type" EXACT [DOID:0110029, Orphanet:98791] -synonym: "ATR, deletion-type" RELATED [OMIM:141750] -synonym: "ATR-16 Syndrome" EXACT [NORD:1879] +synonym: "ATR, deletion-type" RELATED [] +synonym: "ATR-16 Syndrome" EXACT [DOID:0110029, NORD:1879, OMIM:141750, Orphanet:98791] synonym: "ATR-16 syndrome" EXACT [DOID:0110029, OMIM:141750, Orphanet:98791] -synonym: "chromosome 16P deletion syndrome" RELATED [OMIM:141750] +synonym: "chromosome 16P deletion syndrome" RELATED [] synonym: "Haemoglobin H-related intellectual disability" RELATED OMO:0003005 [] synonym: "Haemoglobin H-related mental retardation" RELATED OMO:0003005 [] -synonym: "Hemoglobin H-related intellectual disability" RELATED [OMIM:141750] -synonym: "Hemoglobin H-related mental retardation" RELATED DEPRECATED [OMIM:141750] +synonym: "Hemoglobin H-related intellectual disability" RELATED [] +synonym: "Hemoglobin H-related mental retardation" RELATED DEPRECATED [] synonym: "intellectual disability with Haemoglobin H" RELATED OMO:0003005 [] -synonym: "intellectual disability with Hemoglobin H" RELATED [OMIM:141750] +synonym: "intellectual disability with Hemoglobin H" RELATED [] synonym: "mental retardation with Haemoglobin H" RELATED OMO:0003005 [] -synonym: "mental retardation with Hemoglobin H" RELATED DEPRECATED [OMIM:141750] +synonym: "mental retardation with Hemoglobin H" RELATED DEPRECATED [] xref: DECIPHER:65 {source="MONDO:equivalentTo"} xref: DOID:0110029 {source="MONDO:equivalentTo"} xref: GARD:16862 {source="MONDO:GARD"} @@ -157352,7 +157371,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007717 name: hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain -synonym: "HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain" RELATED [OMIM:142309] +synonym: "HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain" RELATED [] xref: MEDGEN:333610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:142309 {source="MONDO:equivalentTo"} xref: UMLS:C1840647 {source="MEDGEN:333610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -157364,9 +157383,9 @@ name: hepatic adenomas, familial subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hepatic adenoma, somatic" EXACT [OMIM:142330, OMIM:genemap2] +synonym: "hepatic adenoma, somatic" EXACT [] synonym: "hepatic adenomas, familial" EXACT [OMIM:142330] -synonym: "liver cell adenomas, familial" RELATED [OMIM:142330] +synonym: "liver cell adenomas, familial" RELATED [] xref: DOID:0111366 {source="MONDO:equivalentTo"} xref: MEDGEN:374515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564190 {source="MONDO:equivalentTo"} @@ -157382,15 +157401,15 @@ name: diaphragmatic hernia 1 subset: gard_rare {source="MONDO:GARD"} subset: prototype_pattern subset: rare -synonym: "diaphragm, complete agenesis of" RELATED [OMIM:142340] -synonym: "diaphragm, unilateral agenesis of" RELATED [OMIM:142340] -synonym: "diaphragmatic defect, congenital" RELATED [OMIM:142340] -synonym: "diaphragmatic hernia, congenital" RELATED [OMIM:142340] -synonym: "diaphragmatic hernia, congenital 1" EXACT [OMIM:142340] +synonym: "diaphragm, complete agenesis of" RELATED [] +synonym: "diaphragm, unilateral agenesis of" RELATED [] +synonym: "diaphragmatic defect, congenital" RELATED [] +synonym: "diaphragmatic hernia, congenital" RELATED [] +synonym: "diaphragmatic hernia, congenital 1" EXACT [] synonym: "DIH1" RELATED ABBREVIATION [] -synonym: "hemidiaphragm, agenesis of" RELATED [OMIM:142340] -synonym: "hernia, congenital diaphragmatic" RELATED [OMIM:142340] -synonym: "hernia, congenital diaphragmatic 1" EXACT [OMIM:142340, OMIM:genemap2] +synonym: "hemidiaphragm, agenesis of" RELATED [] +synonym: "hernia, congenital diaphragmatic" RELATED [] +synonym: "hernia, congenital diaphragmatic 1" EXACT [] xref: MEDGEN:327154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:142340 {source="MONDO:equivalentTo"} xref: Orphanet:2140 {source="OMIM:142340"} @@ -157415,9 +157434,9 @@ id: MONDO:0007721 name: hiatus hernia def: "Herniation of the upper part of the stomach through the diaphragm." [NCIT:P378] synonym: "diaphragmatic - hiatus -hernia" EXACT [DOID:12642] -synonym: "hernia, hiatus" RELATED [OMIM:142400] -synonym: "hiatal hernia" EXACT [DOID:12642, OMIM:142400] -synonym: "hiatus hernia" EXACT [MONDO:ambiguous] +synonym: "hernia, hiatus" RELATED [] +synonym: "hiatal hernia" EXACT [DOID:12642, NCIT:C98945, OMIM:142400] +synonym: "hiatus hernia" EXACT [DOID:12642, MONDO:ambiguous] synonym: "hiatus hernia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12642 {source="MONDO:equivalentTo"} xref: HP:0002036 {source="MONDO:otherHierarchy"} @@ -157457,16 +157476,16 @@ id: MONDO:0007723 name: Hirschsprung disease, susceptibility to, 1 def: "An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the RET gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "aganglionic megacolon" BROAD [OMIM:142623] -synonym: "Hirschsprung disease" BROAD [OMIM:142623] +synonym: "aganglionic megacolon" BROAD [] +synonym: "Hirschsprung disease" BROAD [] synonym: "Hirschsprung disease caused by mutation in RET" EXACT [] -synonym: "Hirschsprung disease, protection against" RELATED [OMIM:142623] +synonym: "Hirschsprung disease, protection against" RELATED [] synonym: "Hirschsprung disease, susceptibility to, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:142623] -synonym: "Hirschsprung disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:142623] +synonym: "Hirschsprung disease, susceptibility to, type 1" EXACT [MONDORULE:1] synonym: "HSCR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:142623] -synonym: "megacolon, aganglionic" BROAD [OMIM:142623] +synonym: "megacolon, aganglionic" BROAD [] synonym: "RET Hirschsprung disease" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to Hirschsprung disease 1" EXACT [OMIM:142623] +synonym: "susceptibility to Hirschsprung disease 1" EXACT [] xref: MEDGEN:854827 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:142623 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:142623"} @@ -157485,10 +157504,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:2156"} subset: rare synonym: "hirsutism skeletal dysplasia intellectual disability syndrome" RELATED [GARD:0005566] synonym: "hirsutism skeletal dysplasia mental retardation syndrome" RELATED DEPRECATED [GARD:0005566] -synonym: "hirsutism, skeletal dysplasia, and intellectual disability" RELATED [OMIM:142625] -synonym: "hirsutism, skeletal dysplasia, and mental retardation" RELATED DEPRECATED [OMIM:142625] +synonym: "hirsutism, skeletal dysplasia, and intellectual disability" RELATED [] +synonym: "hirsutism, skeletal dysplasia, and mental retardation" RELATED DEPRECATED [] synonym: "Wiedemann Oldigs Oppermann syndrome" RELATED [GARD:0005566] -synonym: "Wiedemann-Oldigs-Oppermann syndrome" EXACT [Orphanet:2156] +synonym: "Wiedemann-Oldigs-Oppermann syndrome" EXACT [] xref: ICD10CM:Q87.8 {source="Orphanet:2156/attributed", source="Orphanet:2156/ntbt", source="Orphanet:2156"} xref: MEDGEN:163202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536705 {source="MONDO:equivalentTo"} @@ -157508,7 +157527,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:158025"} subset: orphanet_rare {source="Orphanet:158025"} subset: rare -synonym: "histiocytosis, progressive mucinous" RELATED [OMIM:142630] +synonym: "histiocytosis, progressive mucinous" RELATED [] xref: GARD:16989 {source="MONDO:GARD"} xref: ICD10CM:D76.3 {source="Orphanet:158025", source="Orphanet:158025/ntbt"} xref: icd11.foundation:284196883 {source="MONDO:equivalentTo"} @@ -157529,15 +157548,15 @@ subset: ordo_disorder {source="Orphanet:2114"} subset: orphanet_rare {source="Orphanet:2114"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Beukes familial hip dysplasia" EXACT [OMIM:142669, Orphanet:2114] -synonym: "Beukes hip dysplasia" RELATED [MONDO:Lexical, OMIM:142669] -synonym: "BFHD" EXACT ABBREVIATION [Orphanet:2114] -synonym: "BHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:142669] -synonym: "Cilliers-Beighton syndrome" EXACT [Orphanet:2114] +synonym: "Beukes familial hip dysplasia" EXACT [DOID:0111367, OMIM:142669, Orphanet:2114] +synonym: "Beukes hip dysplasia" RELATED [MONDO:Lexical] +synonym: "BFHD" EXACT ABBREVIATION [DOID:0111367, Orphanet:2114] +synonym: "BHD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Cilliers-Beighton syndrome" EXACT [DOID:0111367, Orphanet:2114] synonym: "hip dysplasia Beukes type" RELATED [GARD:0002690] -synonym: "hip dysplasia, Beukes type" EXACT [OMIM:142669] -synonym: "osteoarthropathy, premature degenerative, of hip" RELATED [OMIM:142669] -synonym: "premature degenerative osteoarthropathy of the hip" EXACT [Orphanet:2114] +synonym: "hip dysplasia, Beukes type" EXACT [OMIM:142669, Orphanet:2114] +synonym: "osteoarthropathy, premature degenerative, of hip" RELATED [] +synonym: "premature degenerative osteoarthropathy of the hip" EXACT [DOID:0111367, Orphanet:2114] xref: DOID:0111367 {source="MONDO:equivalentTo"} xref: GARD:2690 {source="MONDO:GARD"} xref: ICD10CM:Q65.8 {source="Orphanet:2114/attributed", source="Orphanet:2114/ntbt", source="Orphanet:2114"} @@ -157561,21 +157580,21 @@ subset: ordo_disorder {source="Orphanet:32960"} subset: orphanet_rare {source="Orphanet:32960"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial Hibernian fever" EXACT [DOID:0090018, OMIM:142680, Orphanet:32960] -synonym: "FHF" EXACT ABBREVIATION [GARD:0008457] -synonym: "FPF" RELATED ABBREVIATION [OMIM:142680] +synonym: "familial Hibernian fever" EXACT [DOID:0090018, icd11.foundation:1869883509, NCIT:C119051, OMIM:142680, Orphanet:32960] +synonym: "FHF" EXACT ABBREVIATION [DOID:0090018, GARD:0008457] +synonym: "FPF" RELATED ABBREVIATION [] synonym: "Hibernian fever, familial" EXACT [OMIM:142680] -synonym: "periodic FEVER, familial, autosomal dominant" RELATED [OMIM:142680] +synonym: "periodic FEVER, familial, autosomal dominant" RELATED [] synonym: "TNF receptor 1-associated periodic fever syndrome" EXACT CLINGEN_LABEL [GARD:0008457, https://orcid.org/0000-0002-0146-1162] -synonym: "TNF receptor 1-associated periodic syndrome" EXACT [DOID:0090018, Orphanet:32960] +synonym: "TNF receptor 1-associated periodic syndrome" EXACT [NCIT:C119051, Orphanet:32960] synonym: "TNF receptor-associated periodic syndrome" EXACT [OMIM:142680] -synonym: "TRAPS" EXACT ABBREVIATION [https://orcid.org/0000-0002-0146-1162, NCIT:C119051] +synonym: "TRAPS" EXACT ABBREVIATION [DOID:0090018, https://orcid.org/0000-0002-0146-1162, NCIT:C119051] synonym: "TRAPS syndrome" EXACT [Orphanet:32960] -synonym: "tumor necrosis factor receptor 1 associated periodic syndrome" EXACT [DOID:0090018] +synonym: "tumor necrosis factor receptor 1 associated periodic syndrome" EXACT [Orphanet:32960] synonym: "tumor necrosis factor receptor 1-associated periodic syndrome" EXACT [NCIT:C119051] -synonym: "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome" EXACT [NORD:1804] +synonym: "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome" EXACT [NORD:1804, OMIM:142680] synonym: "tumor necrosis factor receptor-associated periodic syndrome" EXACT [NORD:1804, OMIM:142680] -synonym: "tumour necrosis factor receptor 1 associated periodic syndrome" EXACT OMO:0003005 [] +synonym: "tumour necrosis factor receptor 1 associated periodic syndrome" EXACT OMO:0003005 [icd11.foundation:1869883509] synonym: "tumour necrosis factor receptor 1-associated periodic syndrome" EXACT OMO:0003005 [] synonym: "tumour necrosis factor receptor-associated periodic syndrome" EXACT OMO:0003005 [] xref: DOID:0090018 {source="MONDO:equivalentTo"} @@ -157606,12 +157625,12 @@ id: MONDO:0007728 name: acne inversa, familial, 1 def: "Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene." [MONDO:patterns/disease_series_by_gene] subset: otar {source="MONDO:OTAR"} -synonym: "acne inversa, familial" RELATED [OMIM:142690] +synonym: "acne inversa, familial" RELATED [] synonym: "acne inversa, familial, 1" EXACT [MONDO:Lexical, OMIM:142690] -synonym: "acne inversa, familial, type 1" EXACT [MONDORULE:1, OMIM:142690] -synonym: "ACNINV1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:142690] +synonym: "acne inversa, familial, type 1" EXACT [MONDORULE:1] +synonym: "ACNINV1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "familial acne inversa caused by mutation in NCSTN" EXACT [MONDO:design_pattern] -synonym: "hidradenitis suppurativa, familial" RELATED [OMIM:142690] +synonym: "hidradenitis suppurativa, familial" RELATED [] synonym: "NCSTN familial acne inversa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:1631104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:142690 {source="MONDO:equivalentTo"} @@ -157626,11 +157645,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007729 name: developmental dysplasia of the hip 1 subset: prototype_pattern -synonym: "acetabular dysplasia" BROAD [OMIM:142700] -synonym: "DDH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:142700] -synonym: "developmental dysplasia of the hip 1" EXACT [MONDO:Lexical, OMIM:142700] -synonym: "hip dysplasia, congenital" BROAD [OMIM:142700] -synonym: "hip dysplasia, developmental" RELATED [OMIM:142700] +synonym: "acetabular dysplasia" BROAD [] +synonym: "DDH1" EXACT ABBREVIATION [DOID:0060931, MONDO:Lexical, OMIM:142700] +synonym: "developmental dysplasia of the hip 1" EXACT [DOID:0060931, MONDO:Lexical, OMIM:142700] +synonym: "hip dysplasia, congenital" BROAD [] +synonym: "hip dysplasia, developmental" RELATED [] xref: DOID:0060931 {source="MONDO:equivalentTo"} xref: MEDGEN:266288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:142700 {source="MONDO:equivalentTo"} @@ -157651,7 +157670,7 @@ is_a: MONDO:0003847 {source="MESH:C564183/inferred"} ! hereditary disease [Term] id: MONDO:0007731 name: obsolete HLA modifier -synonym: "HLA modifier" RELATED [OMIM:142770] +synonym: "HLA modifier" RELATED [] xref: OMIM:142770 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -157668,19 +157687,19 @@ subset: orphanet_rare {source="Orphanet:392"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atrio digital syndrome" BROAD [GARD:0006666] -synonym: "atrio-digital syndrome" BROAD [DOID:0060468] -synonym: "atriodigital dysplasia" BROAD [DOID:0060468, OMIM:142900] +synonym: "atrio-digital syndrome" BROAD [] +synonym: "atriodigital dysplasia" BROAD [] synonym: "atriodigital dysplasia type 1" EXACT [Orphanet:392] synonym: "Cardiac-limb syndrome" RELATED [GARD:0006666] -synonym: "heart-hand syndrome" BROAD [DOID:0060468, OMIM:142900] +synonym: "heart-hand syndrome" BROAD [] synonym: "heart-hand syndrome type 1" EXACT [Orphanet:392] synonym: "heart-hand syndrome, type 1" RELATED [GARD:0006666] synonym: "Holt Oram Syndrome" EXACT [NORD:1248] -synonym: "HOLT-Oram syndrome" EXACT [OMIM:142900] -synonym: "Holt-Oram syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:142900] +synonym: "HOLT-Oram syndrome" EXACT [DOID:0060468, NCIT:C125592, OMIM:142900, Orphanet:392] +synonym: "Holt-Oram syndrome" EXACT CLINGEN_LABEL [DOID:0060468, MONDO:Lexical, NCIT:C125592, OMIM:142900, Orphanet:392] synonym: "HOS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:142900, Orphanet:392] synonym: "HOS 1" RELATED [GARD:0006666] -synonym: "Hos1" RELATED [OMIM:142900] +synonym: "Hos1" RELATED [] synonym: "ventriculo-radial syndrome" RELATED [GARD:0006666] xref: DOID:0060468 {source="MONDO:equivalentTo"} xref: GARD:6666 {source="MONDO:GARD"} @@ -157717,12 +157736,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HLP3" EXACT ABBREVIATION [DOID:0110875] -synonym: "Hlp3" RELATED [OMIM:142945] -synonym: "holoprosencephaly 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:142945] +synonym: "HLP3" EXACT ABBREVIATION [DOID:0110875, OMIM:142945] +synonym: "Hlp3" RELATED [] +synonym: "holoprosencephaly 3" EXACT CLINGEN_LABEL [DOID:0110875, MONDO:Lexical, OMIM:142945] synonym: "holoprosencephaly caused by mutation in SHH" EXACT [] synonym: "holoprosencephaly caused by mutation in Shh" EXACT [MONDO:design_pattern] -synonym: "holoprosencephaly type 3" EXACT [DOID:0110875, MONDORULE:1, OMIM:142945] +synonym: "holoprosencephaly type 3" EXACT [MONDORULE:1] synonym: "HPE3" EXACT ABBREVIATION [DOID:0110875, MONDO:Lexical, OMIM:142945] synonym: "SHH holoprosencephaly" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Shh holoprosencephaly" EXACT [MONDO:design_pattern] @@ -157744,9 +157763,9 @@ def: "A rare disorder caused by mutations in the TGIF gene mapped to chromosome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "holoprosencephaly 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:142946] +synonym: "holoprosencephaly 4" EXACT CLINGEN_LABEL [DOID:0110880, MONDO:Lexical, NCIT:C75475, OMIM:142946] synonym: "holoprosencephaly caused by mutation in TGIF1" EXACT [MONDO:design_pattern] -synonym: "holoprosencephaly type 4" EXACT [DOID:0110880, MONDORULE:1, OMIM:142946] +synonym: "holoprosencephaly type 4" EXACT [MONDORULE:1, NCIT:C75475] synonym: "HPE4" EXACT ABBREVIATION [DOID:0110880, MONDO:Lexical, OMIM:142946] synonym: "TGIF1 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110880 {source="MONDO:equivalentTo"} @@ -157772,9 +157791,9 @@ subset: orphanet_rare {source="Orphanet:91413"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital Claude-Bernard-Horner syndrome" EXACT [Orphanet:91413] -synonym: "congenital Horner syndrome" EXACT [MONDO:ambiguous] +synonym: "congenital Horner syndrome" EXACT [MONDO:ambiguous, Orphanet:91413] synonym: "congenital Horner syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "HORNER syndrome, congenital" RELATED [OMIM:143000] +synonym: "HORNER syndrome, congenital" RELATED [] xref: GARD:6670 {source="MONDO:GARD"} xref: HP:0006837 {source="MONDO:otherHierarchy"} xref: ICD10CM:G90.2 {source="Orphanet:91413/attributed", source="Orphanet:91413/ntbt", source="Orphanet:91413"} @@ -157807,9 +157826,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:3265"} subset: orphanet_rare {source="Orphanet:3265"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "humero-radial fusion" EXACT [DOID:0060467, Orphanet:3265] -synonym: "humero-radial synostosis" RELATED [Orphanet:3265] -synonym: "humeroradial synostosis" EXACT [MONDO:ambiguous] +synonym: "humero-radial fusion" EXACT [] +synonym: "humero-radial synostosis" RELATED [] +synonym: "humeroradial synostosis" EXACT [DOID:0060467, MONDO:ambiguous, OMIM:143050] synonym: "humeroradial synostosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060467 {source="MONDO:equivalentTo"} xref: GARD:2748 {source="MONDO:GARD"} @@ -157840,19 +157859,19 @@ subset: rare synonym: "bifurcation of distal humerus with oligoectro-syndactyly" RELATED [GARD:0002533, MESH:C537283] synonym: "chondrodysplasia with congenital joint dislocations, CHST3 type" EXACT [Orphanet:263463] synonym: "chondrodysplasia with multiple dislocations" EXACT [DOID:0050813, OMIM:143095] -synonym: "CHST3-related skeletal dysplasia" EXACT [DOID:0050813] +synonym: "CHST3-related skeletal dysplasia" EXACT [DOID:0050813, Orphanet:263463] synonym: "Gollop Coates syndrome" RELATED [GARD:0002533] synonym: "humero-spinal dysostosis with congenital heart disease" EXACT [DOID:0050813] synonym: "Humerospinal dysostosis" EXACT [DOID:0050813, OMIM:143095] synonym: "Kozlowski Celermajer tink syndrome" EXACT [DOID:0050813] synonym: "Omani type" EXACT [DOID:0050813] synonym: "SDCD, CHST3 type" EXACT [Orphanet:263463] -synonym: "SEDCJD" RELATED ABBREVIATION [OMIM:143095] -synonym: "spondyloepiphyseal dysplasia" BROAD [DOID:0050813] -synonym: "spondyloepiphyseal dysplasia with congenital JOINT dislocations" RELATED [OMIM:143095] -synonym: "spondyloepiphyseal dysplasia with congenital joint dislocations" EXACT [OMIM:143095] +synonym: "SEDCJD" RELATED ABBREVIATION [] +synonym: "spondyloepiphyseal dysplasia" BROAD [] +synonym: "spondyloepiphyseal dysplasia with congenital JOINT dislocations" RELATED [] +synonym: "spondyloepiphyseal dysplasia with congenital joint dislocations" EXACT [DOID:0050813, OMIM:143095] synonym: "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type" EXACT [Orphanet:263463] -synonym: "spondyloepiphyseal dysplasia, Omani type" RELATED [OMIM:143095] +synonym: "spondyloepiphyseal dysplasia, Omani type" RELATED [] xref: DOID:0050813 {source="MONDO:equivalentTo"} xref: GARD:13169 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:263463/attributed", source="Orphanet:263463/ntbt", source="Orphanet:263463"} @@ -157882,12 +157901,12 @@ subset: ordo_disorder {source="Orphanet:399"} subset: orphanet_rare {source="Orphanet:399"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HD" EXACT ABBREVIATION [DOID:12858, MONDO:Lexical, OMIM:143100] -synonym: "Huntington chorea" EXACT [OMIM:143100, Orphanet:399] -synonym: "Huntington disease" EXACT [DOID:12858, MONDO:Lexical, OMIM:143100] -synonym: "Huntington's chorea" EXACT [DOID:12858, ICD9CM:333.4] -synonym: "Huntington's Disease" EXACT [NORD:1256] -synonym: "Huntington's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "HD" EXACT ABBREVIATION [DOID:12858, MONDO:Lexical, NCIT:C82342, OMIM:143100] +synonym: "Huntington chorea" EXACT [icd11.foundation:2132180242, OMIM:143100, Orphanet:399] +synonym: "Huntington disease" EXACT [DOID:12858, icd11.foundation:2132180242, MONDO:Lexical, NCIT:C82342, OMIM:143100, Orphanet:399] +synonym: "Huntington's chorea" EXACT [DOID:12858, ICD9CM:333.4, NCIT:C82342] +synonym: "Huntington's Disease" EXACT [DOID:12858, NCIT:C82342, NORD:1256] +synonym: "Huntington's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:12858, MONDO:LexicalVariant, NCIT:C82342] xref: DOID:12858 {source="MONDO:equivalentTo"} xref: GARD:6677 {source="MONDO:GARD"} xref: ICD10CM:G10 {source="Orphanet:399/specific", source="DOID:12858", source="Orphanet:399/e", source="Orphanet:399"} @@ -157925,21 +157944,21 @@ subset: ordo_disorder {source="Orphanet:898"} subset: orphanet_rare {source="Orphanet:898"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dominant hyaloideoretinal dystrophy of Wagner" EXACT [Orphanet:898] -synonym: "erosive vitreoretinopathy" RELATED [OMIM:143200] +synonym: "dominant hyaloideoretinal dystrophy of Wagner" EXACT [icd11.foundation:780893571, Orphanet:898] +synonym: "erosive vitreoretinopathy" RELATED [] synonym: "ERVR" RELATED ABBREVIATION [GARD:0007871] -synonym: "hyaloideoretinal Degeneration of Wagner" RELATED [OMIM:143200] -synonym: "VCAN-related vitreoretinopathy" EXACT [Orphanet:898] -synonym: "vitreoretinal degeneration, Wagner type" EXACT [Orphanet:898] -synonym: "Wagner disease" EXACT CLINGEN_LABEL [] +synonym: "hyaloideoretinal Degeneration of Wagner" RELATED [] +synonym: "VCAN-related vitreoretinopathy" EXACT [icd11.foundation:780893571, Orphanet:898] +synonym: "vitreoretinal degeneration, Wagner type" EXACT [icd11.foundation:780893571, Orphanet:898] +synonym: "Wagner disease" EXACT CLINGEN_LABEL [icd11.foundation:780893571, Orphanet:898] synonym: "Wagner disease (formerly)" RELATED [GARD:0007871] -synonym: "Wagner syndrome" EXACT [Orphanet:898] -synonym: "Wagner syndrome 1" RELATED [OMIM:143200] +synonym: "Wagner syndrome" EXACT [icd11.foundation:780893571, Orphanet:898] +synonym: "Wagner syndrome 1" RELATED [] synonym: "Wagner syndrome type 1" RELATED [GARD:0007871] -synonym: "Wagner vitreoretinal Degeneration" RELATED [OMIM:143200] -synonym: "Wagner vitreoretinopathy" RELATED [MONDO:Lexical, OMIM:143200] +synonym: "Wagner vitreoretinal Degeneration" RELATED [] +synonym: "Wagner vitreoretinopathy" RELATED [MONDO:Lexical] synonym: "WGN1" RELATED ABBREVIATION [GARD:0007871] -synonym: "WGVRP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143200] +synonym: "WGVRP" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:7871 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:898", source="MONDO:relatedTo", source="Orphanet:898/attributed", source="Orphanet:898/ntbt"} xref: icd11.foundation:780893571 {source="MONDO:equivalentTo"} @@ -157978,9 +157997,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007742 name: 5-hydroxytryptamine oxygenase regulator -synonym: "5-HYDROXYTRYPTAMINE oxygenase regulator" RELATED [OMIM:143460] +synonym: "5-HYDROXYTRYPTAMINE oxygenase regulator" RELATED [] synonym: "5-hydroxytryptamine oxygenase regulator" EXACT [MONDO:Lexical, OMIM:143460] -synonym: "HTOR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143460] +synonym: "HTOR" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:854659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:143460 {source="MONDO:equivalentTo"} xref: UMLS:C3887951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:854659"} @@ -157994,7 +158013,7 @@ def: "A disorder characterized by a marked pattern of inattention and/or hyperac subset: otar {source="MONDO:OTAR"} synonym: "ADHD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "attention deficit hyperactivity disorder" EXACT [NCIT:C97160] -synonym: "attention deficit-hyperactivity disorder" EXACT [MONDO:Lexical] +synonym: "attention deficit-hyperactivity disorder" EXACT [MONDO:Lexical, NCIT:C97160] synonym: "attention deficit/hyperactivity disorder" EXACT [NCIT:C97160] xref: EFO:0003888 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F90-98 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -158016,16 +158035,16 @@ subset: orphanet_rare {source="Orphanet:79506"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CEPT deficiency" EXACT [Orphanet:79506] -synonym: "CETP deficiency" RELATED [OMIM:143470] -synonym: "cholesterol ester transfer Protein deficiency" RELATED [OMIM:143470] -synonym: "familial hyperalphalipoproteinemia" EXACT [Orphanet:79506] -synonym: "HALP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143470] -synonym: "Hdlcq10" RELATED [OMIM:143470] -synonym: "high density lipoprotein cholesterol level QTL 10" EXACT [OMIM:143470, OMIM:genemap2] -synonym: "high density lipoprotein cholesterol level quantitative trait locus 10" RELATED [OMIM:143470] -synonym: "hyperalphalipoproteinemia" BROAD [OMIM:143470, OMIM:genemap2] -synonym: "hyperalphalipoproteinemia 1" EXACT [MONDO:Lexical, OMIM:143470] -synonym: "hyperalphalipoproteinemia type 1" EXACT [MONDORULE:1, OMIM:143470] +synonym: "CETP deficiency" RELATED [] +synonym: "cholesterol ester transfer Protein deficiency" RELATED [] +synonym: "familial hyperalphalipoproteinemia" EXACT [] +synonym: "HALP1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Hdlcq10" RELATED [] +synonym: "high density lipoprotein cholesterol level QTL 10" EXACT [] +synonym: "high density lipoprotein cholesterol level quantitative trait locus 10" RELATED [] +synonym: "hyperalphalipoproteinemia" BROAD [] +synonym: "hyperalphalipoproteinemia 1" EXACT [DOID:0111369, MONDO:Lexical, OMIM:143470] +synonym: "hyperalphalipoproteinemia type 1" EXACT [MONDORULE:1] xref: DOID:0111368 {source="MONDO:mondoIsNarrowerThanSource"} xref: DOID:0111369 {source="MONDO:equivalentTo"} xref: GARD:16724 {source="MONDO:GARD"} @@ -158047,17 +158066,17 @@ subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare synonym: "constitutional hyperbilirubinemia" EXACT [DOID:2739] -synonym: "familial cholemia" EXACT [Orphanet:357] -synonym: "Gilbert disease" EXACT [NCIT:C84729] -synonym: "Gilbert syndrome" EXACT [OMIM:143500, OMIM:genemap2] +synonym: "familial cholemia" EXACT [] +synonym: "Gilbert disease" EXACT [icd11.foundation:1947520963, NCIT:C84729] +synonym: "Gilbert syndrome" EXACT [DOID:2739, ICD10CM:E80.4, icd11.foundation:1947520963, NCIT:C84729, OMIM:143500] synonym: "Gilbert's disease" EXACT [DOID:2739] -synonym: "Gilbert's syndrome" EXACT [DOID:2739] +synonym: "Gilbert's syndrome" EXACT [DOID:2739, NCIT:C84729] synonym: "Gilbert-Meulengracht syndrome" EXACT [DOID:2739] synonym: "hereditary nonhemolytic jaundice" EXACT [DOID:2739] -synonym: "hyperbilirubinemia 1" RELATED [OMIM:143500] -synonym: "hyperbilirubinemia type 1" EXACT [Orphanet:357] -synonym: "hyperbilirubinemia, Arias type" RELATED [OMIM:143500] -synonym: "hyperbilirubinemia, Gilbert type" RELATED [OMIM:143500] +synonym: "hyperbilirubinemia 1" RELATED [] +synonym: "hyperbilirubinemia type 1" EXACT [] +synonym: "hyperbilirubinemia, Arias type" RELATED [] +synonym: "hyperbilirubinemia, Gilbert type" RELATED [] xref: DOID:2739 {source="EFO:0005556", source="MONDO:equivalentTo"} xref: EFO:0005556 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E80.4 {source="MONDO:equivalentTo", source="DOID:2739"} @@ -158079,10 +158098,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007746 name: orthostatic hypotensive disorder, Streeten type -synonym: "hyperbradykininism" RELATED [OMIM:143850] -synonym: "OHDS" RELATED ABBREVIATION [OMIM:143850] -synonym: "orthostatic hypotensive disorder" RELATED [OMIM:143850] -synonym: "orthostatic hypotensive disorder of Streeten" EXACT [OMIM:143850, OMIM:genemap2] +synonym: "hyperbradykininism" RELATED [] +synonym: "OHDS" RELATED ABBREVIATION [] +synonym: "orthostatic hypotensive disorder" RELATED [] +synonym: "orthostatic hypotensive disorder of Streeten" EXACT [] synonym: "orthostatic hypotensive disorder, Streeten type" EXACT [OMIM:143850] xref: MEDGEN:327101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564174 {source="MONDO:equivalentTo"} @@ -158101,7 +158120,7 @@ subset: orphanet_rare {source="Orphanet:542657"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hyperchlorhidrosis, isolated" EXACT [OMIM:143860] -synonym: "isolated hyperchlorhidrosis" EXACT CLINGEN_LABEL [] +synonym: "isolated hyperchlorhidrosis" EXACT CLINGEN_LABEL [DOID:0111371, Orphanet:542657] xref: DOID:0111371 {source="MONDO:equivalentTo"} xref: GARD:17984 {source="MONDO:GARD"} xref: ICD9:276.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -158122,11 +158141,11 @@ name: hypercalciuria, absorptive, 2 subset: gard_rare {source="GARD:18583", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143870] +synonym: "HCA2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hypercalciuria, absorptive, 2" EXACT [MONDO:Lexical, OMIM:143870] -synonym: "hypercalciuria, absorptive, susceptibility to" EXACT [OMIM:143870, OMIM:genemap2] -synonym: "hypercalciuria, absorptive, type 2" EXACT [MONDORULE:1, OMIM:143870] -synonym: "hypercalciuria, familial idiopathic" RELATED [OMIM:143870] +synonym: "hypercalciuria, absorptive, susceptibility to" EXACT [] +synonym: "hypercalciuria, absorptive, type 2" EXACT [MONDORULE:1] +synonym: "hypercalciuria, familial idiopathic" RELATED [] xref: GARD:18583 {source="MONDO:GARD"} xref: ICD9:V18.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:137974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -158155,20 +158174,20 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FHC" RELATED ABBREVIATION [OMIM:143890] +synonym: "FHC" RELATED ABBREVIATION [] synonym: "FHCL1" EXACT ABBREVIATION [OMIM:143890] -synonym: "hyper-low-density-lipoproteinemia" RELATED [OMIM:143890] -synonym: "hypercholesterolemia, familial" EXACT [OMIM:143890] -synonym: "hypercholesterolemia, familial, 1" EXACT CLINGEN_LABEL [] -synonym: "hypercholesterolemia, familial, due to ldlr defect, modifier of" EXACT [OMIM:143890, OMIM:genemap2] -synonym: "hypercholesterolemia, familial, modifier of" EXACT [OMIM:143890, OMIM:genemap2] -synonym: "hypercholesterolemia, susceptibility to" RELATED [OMIM:143890, OMIM:genemap2] +synonym: "hyper-low-density-lipoproteinemia" RELATED [] +synonym: "hypercholesterolemia, familial" EXACT [] +synonym: "hypercholesterolemia, familial, 1" EXACT CLINGEN_LABEL [OMIM:143890] +synonym: "hypercholesterolemia, familial, due to ldlr defect, modifier of" EXACT [] +synonym: "hypercholesterolemia, familial, modifier of" EXACT [] +synonym: "hypercholesterolemia, susceptibility to" RELATED [] synonym: "hypercholesterolemic xanthomatosis, familial" EXACT [OMIM:143890] synonym: "hyperlipoproteinemia, type 2" EXACT [OMIM:143890] synonym: "hyperlipoproteinemia, type 2A" EXACT [OMIM:143890] -synonym: "LDL cholesterol level QTL2" EXACT [OMIM:143890, OMIM:genemap2] +synonym: "LDL cholesterol level QTL2" EXACT [] synonym: "LDL receptor disorder" EXACT [OMIM:143890] -synonym: "low density lipoprotein cholesterol level quantitative trait locus 2" RELATED [OMIM:143890] +synonym: "low density lipoprotein cholesterol level quantitative trait locus 2" RELATED [] xref: MEDGEN:152875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200602 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: OMIM:143890 {source="MONDO:equivalentTo"} @@ -158188,11 +158207,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:8588", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "apolipoprotein B-100, familial defective" RELATED [OMIM:144010] -synonym: "apolipoprotein B-100, familial ligand-defective" RELATED [OMIM:144010] +synonym: "apolipoprotein B-100, familial defective" RELATED [] +synonym: "apolipoprotein B-100, familial ligand-defective" RELATED [] synonym: "hypercholesterolemia, autosomal dominant, type B" EXACT CLINGEN_LABEL [OMIM:144010] -synonym: "hypercholesterolemia, familial, 2" EXACT [OMIM:144010, OMIM:genemap2] -synonym: "hypercholesterolemia, familial, due to ligand-defective apolipoprotein B" RELATED [OMIM:144010] +synonym: "hypercholesterolemia, familial, 2" EXACT [OMIM:144010] +synonym: "hypercholesterolemia, familial, due to ligand-defective apolipoprotein B" RELATED [] xref: GARD:8588 {source="MONDO:GARD"} xref: MEDGEN:309962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:144010 {source="MONDO:equivalentTo"} @@ -158226,15 +158245,15 @@ subset: ordo_disorder {source="Orphanet:662240"} subset: orphanet_rare {source="Orphanet:662240"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "auriculotemporal nerve syndrome" RELATED [OMIM:144100] -synonym: "Baillarger syndrome" EXACT [DOID:11599] -synonym: "Frey syndrome" EXACT [OMIM:144100] +synonym: "auriculotemporal nerve syndrome" RELATED [] +synonym: "Baillarger syndrome" EXACT [DOID:11599, Orphanet:662240] +synonym: "Frey syndrome" EXACT [DOID:11599, OMIM:144100, Orphanet:662240] synonym: "Frey's syndrome" RELATED [GARD:0006467] -synonym: "gustatory hyperhidrosis" EXACT [DOID:11599] +synonym: "gustatory hyperhidrosis" EXACT [DOID:11599, Orphanet:662240] synonym: "gustatory sweating" EXACT [DOID:11599, OMIM:144100] synonym: "hyperhidrosis gustatory" RELATED [GARD:0006467] -synonym: "hyperhidrosis, gustatory" RELATED [MONDO:Lexical, OMIM:144100] -synonym: "HYPRG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144100] +synonym: "hyperhidrosis, gustatory" RELATED [MONDO:Lexical] +synonym: "HYPRG" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:11599 {source="MONDO:equivalentTo", source="EFO:1000940"} xref: EFO:1000940 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:21041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -158251,7 +158270,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007754 name: hyperhidrosis palmaris ET plantaris synonym: "hyperhidrosis palmaris ET plantaris" EXACT [MONDO:Lexical, OMIM:144110] -synonym: "hyperhidrosis, primary palmar" RELATED [OMIM:144110] +synonym: "hyperhidrosis, primary palmar" RELATED [] synonym: "HYPRPP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:144110] xref: MEDGEN:224808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563185 {source="MONDO:equivalentTo"} @@ -158262,9 +158281,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007755 name: hyperimmunoglobulin G1(A1) syndrome -synonym: "hyperimmunoglobulin G1 syndrome" EXACT [OMIM:144120, OMIM:genemap2] +synonym: "hyperimmunoglobulin G1 syndrome" EXACT [] synonym: "hyperimmunoglobulin G1(A1) syndrome" EXACT [OMIM:144120] -synonym: "Immunoglobulin heavy chain regulator" RELATED [OMIM:144120] +synonym: "Immunoglobulin heavy chain regulator" RELATED [] xref: MEDGEN:374465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564173 {source="MONDO:equivalentTo"} xref: OMIM:144120 {source="MONDO:equivalentTo"} @@ -158283,8 +158302,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Flegel disease" EXACT [OMIM:144150, Orphanet:409] synonym: "Flegel's disease" RELATED [GARD:0002824] -synonym: "HLP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144150] -synonym: "hyperkeratosis lenticularis perstans" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:144150] +synonym: "HLP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperkeratosis lenticularis perstans" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:144150, Orphanet:409] synonym: "hyperkeratosis lenticularis perstans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hyperkeratosis lenticularis perstans of Flegel" RELATED [GARD:0002824] xref: GARD:2824 {source="MONDO:GARD"} @@ -158310,7 +158329,7 @@ subset: ordo_disorder {source="Orphanet:1336"} subset: orphanet_rare {source="Orphanet:1336"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyperkeratosis-hyperpigmentation syndrome" EXACT [OMIM:144190] +synonym: "hyperkeratosis-hyperpigmentation syndrome" EXACT [OMIM:144190, Orphanet:1336] xref: GARD:16563 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:1336", source="Orphanet:1336/attributed", source="Orphanet:1336/ntbt"} xref: MEDGEN:326735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -158331,25 +158350,25 @@ subset: ordo_disorder {source="Orphanet:2199"} subset: orphanet_rare {source="Orphanet:2199"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diffuse erythrodermic palmoplantar keratoderma, VC6rner type" EXACT [Orphanet:2199] +synonym: "diffuse erythrodermic palmoplantar keratoderma, VC6rner type" EXACT [] synonym: "diffuse erythrodermic palmoplantar keratoderma, Voerner type" EXACT [Orphanet:2199] synonym: "diffuse erythrodermic palmoplantar keratoderma, Vörner type" RELATED [GARD:0002826] -synonym: "epidermolytic palmoplantar keratoderma of VC6rner" EXACT [Orphanet:2199] +synonym: "epidermolytic palmoplantar keratoderma of VC6rner" EXACT [] synonym: "epidermolytic palmoplantar keratoderma of Voerner" EXACT [GARD:0002826, Orphanet:2199] synonym: "epidermolytic palmoplantar keratoderma of Vörner" RELATED [GARD:0002826] -synonym: "EPPK" EXACT ABBREVIATION [GARD:0002826, MONDO:Lexical, OMIM:144200, Orphanet:2199] +synonym: "EPPK" EXACT ABBREVIATION [GARD:0002826, MONDO:Lexical, Orphanet:2199] synonym: "hyperkeratosis palmoplantar localised epidermolytic" RELATED OMO:0003005 [] synonym: "hyperkeratosis palmoplantar localized epidermolytic" RELATED [GARD:0002826] synonym: "hyperkeratosis, localised epidermolytic" RELATED OMO:0003005 [] -synonym: "hyperkeratosis, localized epidermolytic" RELATED [OMIM:144200] -synonym: "keratoderma, epidermolytic palmoplantar" RELATED [OMIM:144200] -synonym: "keratosis of Greither" RELATED [OMIM:144200] -synonym: "keratosis palmaris Et plantaris Familiaris" RELATED [OMIM:144200] -synonym: "palmoplantar keratoderma, epidermolytic" RELATED [MONDO:Lexical, OMIM:144200] -synonym: "palmoplantar keratoderma, epidermolytic, with knuckle pads" RELATED [OMIM:144200] -synonym: "palmoplantar keratoderma, Vorner type" RELATED [OMIM:144200] -synonym: "Ppke" RELATED [OMIM:144200] -synonym: "tylosis" RELATED [OMIM:144200] +synonym: "hyperkeratosis, localized epidermolytic" RELATED [] +synonym: "keratoderma, epidermolytic palmoplantar" RELATED [] +synonym: "keratosis of Greither" RELATED [] +synonym: "keratosis palmaris Et plantaris Familiaris" RELATED [] +synonym: "palmoplantar keratoderma, epidermolytic" RELATED [MONDO:Lexical] +synonym: "palmoplantar keratoderma, epidermolytic, with knuckle pads" RELATED [] +synonym: "palmoplantar keratoderma, Vorner type" RELATED [] +synonym: "Ppke" RELATED [] +synonym: "tylosis" RELATED [] xref: DOID:0070552 {source="MONDO:equivalentTo"} xref: GARD:2826 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:2199", source="Orphanet:2199/attributed", source="Orphanet:2199/ntbt"} @@ -158371,10 +158390,10 @@ name: hyperlipidemia, familial combined, LPL related comment: Editor note: the OMIM:144250 entry refers to the LPL-caused form subset: gard_rare {source="GARD:15077", source="MONDO:GARD"} subset: rare -synonym: "combined hyperlipidemia, familial" EXACT [OMIM:144250, OMIM:genemap2] -synonym: "familial combined hyperlipidemia" RELATED [OMIM:144250] -synonym: "FCHL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144250] -synonym: "hyperlipidemia, familial combined" RELATED [MONDO:Lexical, OMIM:144250] +synonym: "combined hyperlipidemia, familial" EXACT [] +synonym: "familial combined hyperlipidemia" RELATED [] +synonym: "FCHL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperlipidemia, familial combined" RELATED [MONDO:Lexical] xref: GARD:15077 {source="MONDO:GARD"} xref: MEDGEN:6965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:144250 {source="MONDO:equivalentTo"} @@ -158398,17 +158417,17 @@ id: MONDO:0007761 name: obsolete hyperlipoproteinemia type IV def: "OBSOLETE. A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration." [NCIT:P378] synonym: "carbohydrate inducible hyperlipemia" RELATED [GARD:0006418] -synonym: "carbohydrate-inducible hyperlipemia" RELATED [OMIM:144600] -synonym: "endogenous hyperlipidaemia" EXACT [DOID:1172] -synonym: "familial hypertriglyceridemia" BROAD [DOID:1172, Orphanet:413] +synonym: "carbohydrate-inducible hyperlipemia" RELATED [] +synonym: "endogenous hyperlipidaemia" EXACT [] +synonym: "familial hypertriglyceridemia" BROAD [] synonym: "familial type IV hyperlipoproteinemia" RELATED [GARD:0006418] -synonym: "Fredrickson type IV hyperlipoproteinemia" RELATED [DOID:1172] -synonym: "Fredrickson type IV lipidaemia" RELATED [DOID:1172] -synonym: "Fredrickson type IV Lipidemia" RELATED [DOID:1172, NCIT:C34711] +synonym: "Fredrickson type IV hyperlipoproteinemia" RELATED [] +synonym: "Fredrickson type IV lipidaemia" RELATED [] +synonym: "Fredrickson type IV Lipidemia" RELATED [] synonym: "hyperlipoproteinemia type 4" RELATED [GARD:0006418] -synonym: "hyperlipoproteinemia, type 4" RELATED [OMIM:144600] -synonym: "hyperlipoproteinemia, type IV" RELATED [OMIM:144600] -synonym: "VLDL hyperlipoproteinemia" EXACT [DOID:1172] +synonym: "hyperlipoproteinemia, type 4" RELATED [] +synonym: "hyperlipoproteinemia, type IV" RELATED [] +synonym: "VLDL hyperlipoproteinemia" EXACT [] xref: DOID:1172 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E78.1 {source="DOID:1172"} xref: ICD9:272.1 {source="DOID:1172"} @@ -158436,26 +158455,26 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:530849"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial APOA5 deficiency" EXACT [Orphanet:530849] -synonym: "familial apolipoprotein A-V deficiency" EXACT [Orphanet:530849] -synonym: "familial apolipoprotein a5 deficiency" EXACT [Orphanet:530849] +synonym: "familial APOA5 deficiency" EXACT [DOID:0111421, Orphanet:530849] +synonym: "familial apolipoprotein A-V deficiency" EXACT [DOID:0111421, Orphanet:530849] +synonym: "familial apolipoprotein a5 deficiency" EXACT [DOID:0111421, Orphanet:530849] synonym: "familial hyperlipoproteinemia type V" EXACT [DOID:1171] synonym: "familial type 5 hyperlipoproteinemia" EXACT [DOID:1171] synonym: "Fredrickson type V lipaemia" EXACT [DOID:1171] -synonym: "HLP type 5" EXACT [Orphanet:70470] +synonym: "HLP type 5" EXACT [] synonym: "hyperchylomicronemia late onset" RELATED [GARD:0006704] -synonym: "hyperchylomicronemia with Hyperprebetalipoproteinemia, familial" RELATED [OMIM:144650] -synonym: "hyperchylomicronemia, late-onset" RELATED [OMIM:144650] +synonym: "hyperchylomicronemia with Hyperprebetalipoproteinemia, familial" RELATED [] +synonym: "hyperchylomicronemia, late-onset" RELATED [] synonym: "hyperlipemia combined fat and carbohydrate-induced" RELATED [GARD:0006704] synonym: "hyperlipemia mixed" RELATED [GARD:0006704] -synonym: "hyperlipemia, combined fat and carbohydrate-induced" RELATED [OMIM:144650] -synonym: "hyperlipemia, mixed" RELATED [OMIM:144650] +synonym: "hyperlipemia, combined fat and carbohydrate-induced" RELATED [] +synonym: "hyperlipemia, mixed" RELATED [] synonym: "hyperlipidemia type V" RELATED [GARD:0006704] -synonym: "hyperlipidemia, type 5" RELATED [OMIM:144650] +synonym: "hyperlipidemia, type 5" RELATED [] synonym: "hyperlipoproteinemia type 5" RELATED [GARD:0006704] -synonym: "hyperlipoproteinemia, type 5" RELATED [OMIM:144650] -synonym: "hyperlipoproteinemia, type V" RELATED [OMIM:144650] -synonym: "major hyperlipidemia" EXACT [Orphanet:70470] +synonym: "hyperlipoproteinemia, type 5" RELATED [] +synonym: "hyperlipoproteinemia, type V" RELATED [] +synonym: "major hyperlipidemia" EXACT [] synonym: "mixed hyperlipemia" RELATED [GARD:0006704] synonym: "type V hyperlipoproteinemia" RELATED [GARD:0006704] xref: DOID:0111421 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -158483,19 +158502,19 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenocarcinoma of kidney" RELATED [OMIM:144700] -synonym: "CCRCC" NARROW ABBREVIATION [Orphanet:319276] -synonym: "clear cell renal cell adenocarcinoma" NARROW [Orphanet:319276] -synonym: "clear cell renal cell carcinoma" NARROW [Orphanet:319276] -synonym: "hypernephroma" RELATED [OMIM:144700] -synonym: "nonpapillary renal carcinoma 1 locus" RELATED [OMIM:144700] -synonym: "RCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:144700] -synonym: "renal carcinoma, chromophobe, somatic" EXACT [OMIM:144700, OMIM:genemap2] -synonym: "renal cell carcinoma" BROAD [OMIM:144700, OMIM:genemap2] -synonym: "renal cell carcinoma, clear cell" EXACT [OMIM:144700, OMIM:genemap2] -synonym: "renal cell carcinoma, clear cell, somatic" EXACT [OMIM:144700, OMIM:genemap2] -synonym: "renal cell carcinoma, nonpapillary" RELATED [MONDO:Lexical, OMIM:144700] -synonym: "renal cell carcinoma, somatic" EXACT [OMIM:144700, OMIM:genemap2] +synonym: "adenocarcinoma of kidney" RELATED [] +synonym: "CCRCC" NARROW ABBREVIATION [] +synonym: "clear cell renal cell adenocarcinoma" NARROW [] +synonym: "clear cell renal cell carcinoma" NARROW [] +synonym: "hypernephroma" RELATED [] +synonym: "nonpapillary renal carcinoma 1 locus" RELATED [] +synonym: "RCC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "renal carcinoma, chromophobe, somatic" EXACT [] +synonym: "renal cell carcinoma" BROAD [] +synonym: "renal cell carcinoma, clear cell" EXACT [] +synonym: "renal cell carcinoma, clear cell, somatic" EXACT [] +synonym: "renal cell carcinoma, nonpapillary" RELATED [MONDO:Lexical] +synonym: "renal cell carcinoma, somatic" EXACT [] xref: DOID:0050387 {source="MONDO:equivalentTo"} xref: ICD10CM:C64 {source="Orphanet:319276", source="Orphanet:319276/ntbt"} xref: OMIM:144700 {source="DOID:0050387", source="MONDO:equivalentTo"} @@ -158519,20 +158538,20 @@ subset: rare synonym: "autosomal dominant endosteal hyperostosis" EXACT [DOID:0080037] synonym: "autosomal dominant osteosclerosis" EXACT [DOID:0080037] synonym: "benign form of Worth hyperostosis corticalis generalisata with torus platinus" EXACT [DOID:0080037] -synonym: "endosteal hyperostosis, autosomal dominant" RELATED [OMIM:144750] +synonym: "endosteal hyperostosis, autosomal dominant" RELATED [] synonym: "endosteal hyperostosis, Worth type" EXACT [Orphanet:2790] synonym: "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus" RELATED [GARD:0000390] -synonym: "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus" RELATED [OMIM:144750] -synonym: "hyperostosis, endosteal" EXACT [OMIM:144750, OMIM:genemap2] +synonym: "hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus" RELATED [] +synonym: "hyperostosis, endosteal" EXACT [] synonym: "osteosclerosis of the skull and enlarged mandible" RELATED [GARD:0009488] -synonym: "osteosclerosis, autosomal dominant" RELATED [OMIM:144750] +synonym: "osteosclerosis, autosomal dominant" RELATED [] synonym: "osteosclerosis, autosomal dominant, Worth type" RELATED [GARD:0000390] -synonym: "Ostéosclérose autosomique dominante type Worth" EXACT [Orphanet:2790] +synonym: "Ostéosclérose autosomique dominante type Worth" EXACT [] synonym: "Van Buchem disease type 2" RELATED [GARD:0009488] -synonym: "Van Buchem disease, type 2" RELATED [OMIM:607636] -synonym: "VBCH2" RELATED ABBREVIATION [OMIM:607636] +synonym: "Van Buchem disease, type 2" RELATED [] +synonym: "VBCH2" RELATED ABBREVIATION [] synonym: "Worth syndrome" EXACT [DOID:0080037, Orphanet:2790] -synonym: "Worth's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Worth's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0080037, MONDO:LexicalVariant] xref: DOID:0080037 {source="MONDO:equivalentTo"} xref: GARD:390 {source="MONDO:GARD"} xref: ICD10CM:Q78.2 {source="Orphanet:2790/attributed", source="Orphanet:2790/ntbt", source="Orphanet:2790"} @@ -158565,9 +158584,9 @@ subset: ordo_disorder {source="Orphanet:443098"} subset: orphanet_rare {source="Orphanet:443098"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HCIN" RELATED ABBREVIATION [OMIM:144755] -synonym: "hyperostosis cranalis interna" EXACT [OMIM:144755, OMIM:genemap2] -synonym: "hyperostosis cranialis interna" EXACT [MONDO:ambiguous, OMIM:144755] +synonym: "HCIN" RELATED ABBREVIATION [] +synonym: "hyperostosis cranalis interna" EXACT [] +synonym: "hyperostosis cranialis interna" EXACT [MONDO:ambiguous, OMIM:144755, Orphanet:443098] synonym: "hyperostosis cranialis interna (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:17753 {source="MONDO:GARD"} xref: HP:0005890 {source="MONDO:otherHierarchy"} @@ -158595,10 +158614,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:77296"} subset: orphanet_rare {source="Orphanet:77296"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Hyperostosis Frontalis Interna" EXACT [NORD:1268] -synonym: "hyperostosis frontalis interna" EXACT [OMIM:144800, Orphanet:77296] +synonym: "Hyperostosis Frontalis Interna" EXACT [NCIT:C84772, NORD:1268, OMIM:144800, Orphanet:77296] +synonym: "hyperostosis frontalis interna" EXACT [NCIT:C84772, OMIM:144800, Orphanet:77296] synonym: "hyperostosis frontalis interna, obesity, shortness and cognitive impairment" RELATED [GARD:0008593] -synonym: "Morgagni-Stewart-Morel syndrome" EXACT [OMIM:144800] +synonym: "Morgagni-Stewart-Morel syndrome" EXACT [OMIM:144800, Orphanet:77296] synonym: "MSM syndrome" RELATED [GARD:0008593] xref: GARD:8593 {source="MONDO:GARD"} xref: ICD10CM:M85.2 {source="Orphanet:77296", source="Orphanet:77296/ntbt", source="Orphanet:77296/index"} @@ -158619,12 +158638,12 @@ name: hyperparathyroidism 1 subset: gard_rare {source="GARD:18253", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HRPT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145000] +synonym: "HRPT1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hyperparathyroidism 1" EXACT [MONDO:Lexical, OMIM:145000] -synonym: "hyperparathyroidism type 1" EXACT [MONDORULE:1, OMIM:145000] -synonym: "hyperparathyroidism, familial isolated primary" RELATED [OMIM:145000] -synonym: "hyperparathyroidism, familial primary" EXACT [OMIM:145000, OMIM:genemap2] -synonym: "parathyroid adenoma, familial" RELATED [OMIM:145000] +synonym: "hyperparathyroidism type 1" EXACT [MONDORULE:1] +synonym: "hyperparathyroidism, familial isolated primary" RELATED [] +synonym: "hyperparathyroidism, familial primary" EXACT [] +synonym: "parathyroid adenoma, familial" RELATED [] xref: GARD:18253 {source="MONDO:GARD"} xref: MEDGEN:333554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:145000 {source="MONDO:equivalentTo"} @@ -158652,19 +158671,19 @@ subset: rare synonym: "familial primary hyperparathyroidism with multiple ossifying jaw fibromas" RELATED [GARD:0010829] synonym: "hereditary hyperparathyroidism-jaw tumor syndrome" RELATED [GARD:0010829] synonym: "hereditary hyperparathyroidism-jaw tumour syndrome" RELATED OMO:0003005 [] -synonym: "HPT-JT" EXACT [NCIT:C48287, Orphanet:99880] -synonym: "HRPT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145001] -synonym: "hyperparathyroidism 2" RELATED [GARD:0010829, MONDO:Lexical, OMIM:145001] +synonym: "HPT-JT" EXACT ABBREVIATION [NCIT:C48287, Orphanet:99880] +synonym: "HRPT2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperparathyroidism 2" RELATED [GARD:0010829, MONDO:Lexical] synonym: "hyperparathyroidism 2 with jaw tumors" EXACT CLINGEN_LABEL [OMIM:145001] -synonym: "hyperparathyroidism type 2" EXACT [MONDORULE:1, OMIM:145001] -synonym: "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas" RELATED [OMIM:145001] +synonym: "hyperparathyroidism type 2" EXACT [MONDORULE:1] +synonym: "hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas" RELATED [] synonym: "hyperparathyroidism-2" EXACT [NCIT:C48287] -synonym: "hyperparathyroidism-jaw tumor syndrome" EXACT [NCIT:C48287] -synonym: "hyperparathyroidism-jaw tumor syndrome, hereditary" RELATED [OMIM:145001] +synonym: "hyperparathyroidism-jaw tumor syndrome" EXACT [NCIT:C48287, Orphanet:99880] +synonym: "hyperparathyroidism-jaw tumor syndrome, hereditary" RELATED [] synonym: "hyperparathyroidism-jaw tumour syndrome" EXACT OMO:0003005 [] synonym: "hyperparathyroidism-jaw tumour syndrome, hereditary" RELATED OMO:0003005 [] -synonym: "parathyroid adenoma with cystic changes" EXACT [OMIM:145001, OMIM:genemap2] -synonym: "parathyroid adenomatosis, familial cystic" RELATED [OMIM:145001] +synonym: "parathyroid adenoma with cystic changes" EXACT [] +synonym: "parathyroid adenomatosis, familial cystic" RELATED [] xref: GARD:10829 {source="MONDO:GARD"} xref: ICD10CM:E21.0 {source="Orphanet:99880/attributed", source="Orphanet:99880/ntbt", source="Orphanet:99880"} xref: MEDGEN:310065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -158687,7 +158706,7 @@ id: MONDO:0007769 name: hyperpigmentation of eyelid def: "Over-production of pigment in the eyelid." [EFO:1000711] synonym: "dyspigmentation of eyelid" EXACT [DOID:10122] -synonym: "hyperpigmentation of eyelids" RELATED [OMIM:145100] +synonym: "hyperpigmentation of eyelids" RELATED [] xref: DOID:10122 {source="MONDO:equivalentTo", source="EFO:1000711"} xref: ICD10CM:H02.71 {source="DOID:10122"} xref: ICD9:374.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:10122"} @@ -158715,14 +158734,14 @@ subset: gard_rare {source="GARD:18073", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FPHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145250] -synonym: "hyperpigmentation with or without hypopigmentation" EXACT [OMIM:145250, OMIM:genemap2] +synonym: "FPHH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperpigmentation with or without hypopigmentation" EXACT [] synonym: "hyperpigmentation with or without hypopigmentation, familial progressive" EXACT [MONDO:Lexical, OMIM:145250] -synonym: "hyperpigmentation, familial progressive, 2" RELATED [OMIM:145250] -synonym: "hyperpigmentation, familial progressive, 2, formerly" RELATED [OMIM:145250] -synonym: "macules, hereditary congenital hypopigmented and hyperpigmented" EXACT [OMIM:145250] -synonym: "melanosis universalis hereditaria" RELATED [OMIM:145250] -synonym: "melanosis, universal" EXACT [OMIM:145250] +synonym: "hyperpigmentation, familial progressive, 2" RELATED [] +synonym: "hyperpigmentation, familial progressive, 2, formerly" RELATED [] +synonym: "macules, hereditary congenital hypopigmented and hyperpigmented" EXACT [] +synonym: "melanosis universalis hereditaria" RELATED [] +synonym: "melanosis, universal" EXACT [] xref: DOID:0111373 {source="MONDO:equivalentTo"} xref: GARD:18073 {source="MONDO:GARD"} xref: MEDGEN:333550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -158743,11 +158762,11 @@ subset: ordo_etiological_subtype {source="Orphanet:88938"} subset: ordo_subtype_of_a_disorder {source="Orphanet:88938"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Gordon hyperkalemia-hypertension syndrome" RELATED [OMIM:145260] -synonym: "hyperpotassemia and hypertension, familial" RELATED [OMIM:145260] -synonym: "hypertensive hyperkalemia, familial" RELATED [OMIM:145260] +synonym: "Gordon hyperkalemia-hypertension syndrome" RELATED [] +synonym: "hyperpotassemia and hypertension, familial" RELATED [] +synonym: "hypertensive hyperkalemia, familial" RELATED [] synonym: "PHA2A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:145260, Orphanet:88938] -synonym: "pseudohypoaldosteronism, type IIA" RELATED [MONDO:Lexical, OMIM:145260] +synonym: "pseudohypoaldosteronism, type IIA" RELATED [MONDO:Lexical] xref: GARD:16775 {source="MONDO:GARD"} xref: ICD10CM:I15.1 {source="Orphanet:88938/attributed", source="Orphanet:88938/ntbt", source="Orphanet:88938"} xref: icd11.foundation:646091849 {source="MONDO:equivalentTo"} @@ -158762,7 +158781,7 @@ is_a: MONDO:0019162 {source="OMIM:145260", source="Orphanet:88938", source="icd1 [Term] id: MONDO:0007773 name: hyperproglucagonemia -synonym: "glucagon, large molecular weight species of" RELATED [OMIM:145270] +synonym: "glucagon, large molecular weight species of" RELATED [] synonym: "hyperproglucagonemia" EXACT [OMIM:145270] xref: MEDGEN:326726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564159 {source="MONDO:equivalentTo"} @@ -158774,8 +158793,8 @@ is_a: MONDO:0003847 {source="MESH:C564159/inferred"} ! hereditary disease id: MONDO:0007774 name: hyperreflexia def: "An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes." [MESH:D012021] -synonym: "HRX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145290] -synonym: "hyperreflexia" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:145290] +synonym: "HRX" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperreflexia" EXACT [icd11.foundation:514864448, MONDO:ambiguous, MONDO:Lexical, OMIM:145290] synonym: "hyperreflexia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001347 {source="MONDO:otherHierarchy"} xref: icd11.foundation:514864448 {source="MONDO:equivalentTo"} @@ -158821,7 +158840,7 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited id: MONDO:0007777 name: hypotaurinemic retinal degeneration and cardiomyopathy subset: clingen {source="MONDO:CLINGEN"} -synonym: "hypotaurinemic retinal degeneration and cardiomyopathy" EXACT [OMIM:145350, OMIM:genemap2] +synonym: "hypotaurinemic retinal degeneration and cardiomyopathy" EXACT [OMIM:145350] xref: MEDGEN:1779589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564157 {source="MONDO:equivalentTo"} xref: OMIM:145350 {source="MONDO:equivalentTo"} @@ -158837,8 +158856,8 @@ id: MONDO:0007778 name: obsolete hypertelorism def: "OBSOLETE. A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism)." [NCIT:C34715] comment: Hypertelorism is a phenotypic feature. -synonym: "hypertelorism" EXACT [MONDO:ambiguous, OMIM:145400] -synonym: "hypertelorism of orbit" EXACT [NCIT:C34715] +synonym: "hypertelorism" EXACT [MONDO:ambiguous] +synonym: "hypertelorism of orbit" EXACT [] synonym: "obsolete hypertelorism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000316 {source="MONDO:otherHierarchy"} xref: ICD9:376.41 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s"} @@ -158856,27 +158875,27 @@ id: MONDO:0007779 name: obsolete autosomal dominant Opitz G/BBB syndrome def: "OBSOLETE. Autosomal dominant form of Opitz G/BBB syndrome." [MONDO:patterns/autosomal_dominant] subset: ordo_etiological_subtype {source="Orphanet:306588"} -synonym: "ADOS" EXACT ABBREVIATION [Orphanet:306588] -synonym: "autosomal dominant Opitz BBB/G syndrome" EXACT [Orphanet:306588] -synonym: "autosomal dominant Opitz syndrome" EXACT [Orphanet:306588] -synonym: "BBB syndrome" RELATED [OMIM:145410] -synonym: "chromosome 22Q11.2 deletion syndrome, Opitz phenotype" RELATED [OMIM:145410] -synonym: "G syndrome" RELATED [OMIM:145410] -synonym: "GBBB syndrome" RELATED [OMIM:145410] -synonym: "GBBB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145410] -synonym: "hypertelorism with esophageal Abnormality and hypospadias" RELATED [OMIM:145410] -synonym: "hypertelorism-hypospadias syndrome" RELATED [OMIM:145410] -synonym: "hypospadias-dysphagia syndrome" RELATED [OMIM:145410] -synonym: "Opitz Bbbg syndrome" RELATED [OMIM:145410] +synonym: "ADOS" EXACT ABBREVIATION [] +synonym: "autosomal dominant Opitz BBB/G syndrome" EXACT [] +synonym: "autosomal dominant Opitz syndrome" EXACT [] +synonym: "BBB syndrome" RELATED [] +synonym: "chromosome 22Q11.2 deletion syndrome, Opitz phenotype" RELATED [] +synonym: "G syndrome" RELATED [] +synonym: "GBBB syndrome" RELATED [] +synonym: "GBBB2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypertelorism with esophageal Abnormality and hypospadias" RELATED [] +synonym: "hypertelorism-hypospadias syndrome" RELATED [] +synonym: "hypospadias-dysphagia syndrome" RELATED [] +synonym: "Opitz Bbbg syndrome" RELATED [] synonym: "Opitz G/BBB syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -synonym: "Opitz GBBB syndrome, autosomal dominant" RELATED [OMIM:145410] -synonym: "Opitz GBBB syndrome, type 2" RELATED [OMIM:145410] -synonym: "Opitz GBBB syndrome, type II" RELATED [MONDO:Lexical, OMIM:145410] -synonym: "Opitz oculogenitolaryngeal syndrome, type 2" RELATED [OMIM:145410] -synonym: "Opitz-Frias syndrome" RELATED [OMIM:145410] -synonym: "Opitz-G syndrome, type 2" RELATED [OMIM:145410] -synonym: "telecanthus with associated abnormalities" RELATED [OMIM:145410] -synonym: "telecanthus-hypospadias syndrome" RELATED [OMIM:145410] +synonym: "Opitz GBBB syndrome, autosomal dominant" RELATED [] +synonym: "Opitz GBBB syndrome, type 2" RELATED [] +synonym: "Opitz GBBB syndrome, type II" RELATED [MONDO:Lexical] +synonym: "Opitz oculogenitolaryngeal syndrome, type 2" RELATED [] +synonym: "Opitz-Frias syndrome" RELATED [] +synonym: "Opitz-G syndrome, type 2" RELATED [] +synonym: "telecanthus with associated abnormalities" RELATED [] +synonym: "telecanthus-hypospadias syndrome" RELATED [] xref: ICD10CM:Q87.8 {source="Orphanet:306588/attributed", source="Orphanet:306588/ntbt", source="Orphanet:306588"} xref: OMIM:145410 {source="Orphanet:306588/e", source="MONDO:obsoleteEquivalentObsolete", source="Orphanet:306588"} xref: Orphanet:2745 {source="OMIM:145410"} @@ -158901,20 +158920,20 @@ id: MONDO:0007781 name: essential hypertension, genetic def: "An instance of essential hypertension that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: otar {source="MONDO:OTAR"} -synonym: "blood pressure regulation QTL" EXACT [OMIM:145500, OMIM:genemap2] -synonym: "EHT" RELATED ABBREVIATION [OMIM:145500] +synonym: "blood pressure regulation QTL" EXACT [] +synonym: "EHT" RELATED ABBREVIATION [] synonym: "genetic essential hypertension" EXACT [MONDO:patterns/genetic] -synonym: "hypertension, essential" RELATED [OMIM:145500] -synonym: "hypertension, essential, salt-sensitive" EXACT [OMIM:145500, OMIM:genemap2] -synonym: "hypertension, essential, susceptibility to" RELATED [OMIM:145500, OMIM:genemap2] -synonym: "hypertension, essential, susceptibility to, 1" RELATED [OMIM:145500, OMIM:genemap2] -synonym: "hypertension, essential, susceptibility to, 2" NARROW [OMIM:145500, OMIM:genemap2] -synonym: "hypertension, essential, susceptibility to, 3" NARROW [OMIM:145500, OMIM:genemap2] -synonym: "hypertension, essential, susceptibility to, 4" NARROW [OMIM:145500, OMIM:genemap2] -synonym: "hypertension, essential, susceptibility to, 5" NARROW [OMIM:145500, OMIM:genemap2] -synonym: "hypertension, essential, susceptibility to, 6" NARROW [OMIM:145500, OMIM:genemap2] -synonym: "hypertension, salt-sensitive essential, susceptibility to" RELATED [OMIM:145500, OMIM:genemap2] -synonym: "hypertension, susceptibility to" NARROW [OMIM:145500, OMIM:genemap2] +synonym: "hypertension, essential" RELATED [] +synonym: "hypertension, essential, salt-sensitive" EXACT [] +synonym: "hypertension, essential, susceptibility to" RELATED [] +synonym: "hypertension, essential, susceptibility to, 1" RELATED [] +synonym: "hypertension, essential, susceptibility to, 2" NARROW [] +synonym: "hypertension, essential, susceptibility to, 3" NARROW [] +synonym: "hypertension, essential, susceptibility to, 4" NARROW [] +synonym: "hypertension, essential, susceptibility to, 5" NARROW [] +synonym: "hypertension, essential, susceptibility to, 6" NARROW [] +synonym: "hypertension, salt-sensitive essential, susceptibility to" RELATED [] +synonym: "hypertension, susceptibility to" NARROW [] xref: OMIM:145500 {source="MONDO:equivalentTo"} xref: Orphanet:243761 {source="OMIM:145500"} is_a: MONDO:0042489 {source="DC-OMIM:145500", source="MONDO:Redundant"} ! disease susceptibility @@ -158927,7 +158946,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007782 name: hyperthermia, cutaneous, with headaches and nausea -synonym: "farmer syndrome" RELATED [OMIM:145590] +synonym: "farmer syndrome" RELATED [] synonym: "hyperthermia, cutaneous, with headaches and nausea" EXACT [OMIM:145590] xref: MEDGEN:374453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564156 {source="MONDO:equivalentTo"} @@ -158941,24 +158960,24 @@ name: malignant hyperthermia, susceptibility to, 1 def: "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen {source="MONDO:CLINGEN"} subset: predisposition -synonym: "hyperpyrexia, malignant" RELATED [GARD:0003363, OMIM:145600] +synonym: "hyperpyrexia, malignant" RELATED [GARD:0003363] synonym: "hyperpyrexia, malignant;MH KING syndrome, included" RELATED [MESH:C535694] synonym: "hyperthermia of anaesthesia" RELATED OMO:0003005 [] -synonym: "hyperthermia of anesthesia" RELATED [GARD:0003363, MESH:C535694, OMIM:145600] -synonym: "King syndrome" RELATED [OMIM:145600] -synonym: "King-Denborough syndrome" RELATED [OMIM:145600] +synonym: "hyperthermia of anesthesia" RELATED [GARD:0003363, MESH:C535694] +synonym: "King syndrome" RELATED [] +synonym: "King-Denborough syndrome" RELATED [] synonym: "King-Denborough syndrome, included" RELATED [MESH:C535694] synonym: "malignant hyperthermia of anaesthesia caused by mutation in RYR1" EXACT OMO:0003005 [] synonym: "malignant hyperthermia of anesthesia caused by mutation in RYR1" EXACT [MONDO:design_pattern] -synonym: "malignant hyperthermia susceptibility 1" EXACT [OMIM:145600, OMIM:genemap2] +synonym: "malignant hyperthermia susceptibility 1" EXACT [] synonym: "malignant hyperthermia susceptibility type 1" RELATED [GARD:0003363] synonym: "malignant hyperthermia, susceptibility to, 1" EXACT CLINGEN_LABEL [MESH:C535694, MONDO:Lexical, OMIM:145600] -synonym: "malignant hyperthermia, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:145600] -synonym: "MHS" RELATED ABBREVIATION [GARD:0003363, MESH:C535694, OMIM:145600] -synonym: "MHS1" RELATED ABBREVIATION [GARD:0003363, MESH:C535694, MONDO:Lexical, OMIM:145600] +synonym: "malignant hyperthermia, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "MHS" RELATED ABBREVIATION [GARD:0003363, MESH:C535694] +synonym: "MHS1" RELATED ABBREVIATION [GARD:0003363, MESH:C535694, MONDO:Lexical] synonym: "RYR1 malignant hyperthermia of anaesthesia" EXACT OMO:0003005 [] synonym: "RYR1 malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to malignant hyperthermia 1" RELATED [OMIM:145600] +synonym: "susceptibility to malignant hyperthermia 1" RELATED [] xref: DOID:0080990 {source="MONDO:equivalentTo"} xref: MEDGEN:443948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535694 {source="MONDO:equivalentTo"} @@ -158984,10 +159003,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyperthyroidism, familial, due to inappropriate thyrotropin secretion" RELATED [OMIM:145650] -synonym: "pituitary resistance to thyroid hormone" RELATED [Orphanet:165994] -synonym: "PRTH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:145650, PMID:8475937] -synonym: "thyroid hormone resistance, selective pituitary" RELATED [MONDO:Lexical, OMIM:145650] +synonym: "hyperthyroidism, familial, due to inappropriate thyrotropin secretion" RELATED [] +synonym: "pituitary resistance to thyroid hormone" RELATED [] +synonym: "PRTH" EXACT ABBREVIATION [DOID:0111374, MONDO:Lexical, OMIM:145650, PMID:8475937] +synonym: "thyroid hormone resistance, selective pituitary" RELATED [MONDO:Lexical] xref: DOID:0111374 {source="MONDO:equivalentTo"} xref: ICD10CM:E05.8 {source="Orphanet:165994", source="Orphanet:165994/attributed", source="Orphanet:165994/ntbt"} xref: icd11.foundation:482664523 {source="MONDO:equivalentTo"} @@ -159003,11 +159022,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0007785 name: hyperthyroxinemia, dystransthyretinemic -synonym: "DTTRH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:145680] -synonym: "dystransthyretinemic ethyroidal hyperthyroxinemia" RELATED [OMIM:145680] -synonym: "dystransthyretinemic hyperthyroxinemia" EXACT [DOID:0080219, OMIM:145680, OMIM:genemap2] -synonym: "euthryroidal hyperthyroxinemia 2" RELATED [OMIM:145680] -synonym: "hyperthyroxinemia, Dysprealbuminemic" RELATED [OMIM:145680] +synonym: "DTTRH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "dystransthyretinemic ethyroidal hyperthyroxinemia" RELATED [] +synonym: "dystransthyretinemic hyperthyroxinemia" EXACT [DOID:0080219] +synonym: "euthryroidal hyperthyroxinemia 2" RELATED [] +synonym: "hyperthyroxinemia, Dysprealbuminemic" RELATED [] synonym: "hyperthyroxinemia, dystransthyretinemic" EXACT [MONDO:Lexical, OMIM:145680] xref: DOID:0080219 {source="MONDO:equivalentTo"} xref: MEDGEN:442573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -159036,13 +159055,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Ambras syndrome" EXACT [DOID:0111060, OMIM:145701, Orphanet:1023] synonym: "congenital generalised hypertrichosis, Ambras type" RELATED OMO:0003005 [] -synonym: "congenital generalized hypertrichosis, Ambras type" RELATED [Orphanet:1023] +synonym: "congenital generalized hypertrichosis, Ambras type" RELATED [] synonym: "HTC 1" RELATED [GARD:0008206] synonym: "HTC1" EXACT ABBREVIATION [DOID:0111060, MONDO:Lexical, OMIM:145701] synonym: "hypertrichosis universalis congenita Ambras type" RELATED [GARD:0008206] -synonym: "hypertrichosis universalis congenita, Ambras type" RELATED [MONDO:Lexical, OMIM:145701] +synonym: "hypertrichosis universalis congenita, Ambras type" RELATED [MONDO:Lexical] synonym: "hypertrichosis, congenital generalised" RELATED OMO:0003005 [] -synonym: "hypertrichosis, congenital generalized" RELATED [OMIM:145701] +synonym: "hypertrichosis, congenital generalized" RELATED [] xref: DOID:0111060 {source="MONDO:equivalentTo"} xref: GARD:8206 {source="MONDO:GARD"} xref: ICD10CM:Q84.2 {source="Orphanet:1023/attributed", source="Orphanet:1023/ntbt", source="Orphanet:1023", source="DOID:0111060"} @@ -159061,7 +159080,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hypertriglyceridemia, familial" EXACT [OMIM:145750] -synonym: "hypertriglyceridemia, susceptibility to" RELATED [OMIM:145750, OMIM:genemap2] +synonym: "hypertriglyceridemia, susceptibility to" RELATED [] xref: MEDGEN:1787149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:145750 {source="MONDO:equivalentTo"} xref: Orphanet:413 {source="OMIM:145750"} @@ -159090,13 +159109,13 @@ subset: ordo_disorder {source="Orphanet:64748"} subset: orphanet_rare {source="Orphanet:64748"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Charcot-Marie-Tooth disease type 3" EXACT [Orphanet:64748] -synonym: "Charcot-Marie-Tooth disease, type 3" EXACT [NCIT:C133087] +synonym: "Charcot-Marie-Tooth disease type 3" EXACT [DOID:0050540, Orphanet:64748] +synonym: "Charcot-Marie-Tooth disease, type 3" EXACT [NCIT:C133087, OMIM:145900] synonym: "CMT3" EXACT ABBREVIATION [NCIT:C133087] -synonym: "dejerine-sottas disease" EXACT [OMIM:145900, OMIM:genemap2] -synonym: "Dejerine-Sottas neuropathy" EXACT [DOID:0050540, NCIT:C133087] -synonym: "Dejerine-Sottas Syndrome" EXACT [NORD:1037] -synonym: "Dejerine-Sottas syndrome" EXACT [DOID:0050540] +synonym: "dejerine-sottas disease" EXACT [] +synonym: "Dejerine-Sottas neuropathy" EXACT [DOID:0050540, NCIT:C133087, OMIM:145900] +synonym: "Dejerine-Sottas Syndrome" EXACT [DOID:0050540, NORD:1037, OMIM:145900, Orphanet:64748] +synonym: "Dejerine-Sottas syndrome" EXACT [DOID:0050540, OMIM:145900, Orphanet:64748] synonym: "DSN" RELATED ABBREVIATION [GARD:0009204] synonym: "hereditary motor and sensory neuropathy 3" RELATED [GARD:0009204] synonym: "hereditary motor and sensory neuropathy type 3" EXACT [OMIM:145900, Orphanet:64748] @@ -159137,19 +159156,19 @@ synonym: "CASR familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern synonym: "familial benign hypercalcemia 1" EXACT [DOID:0060700, OMIM:145980] synonym: "familial benign hypercalcemia type 1" RELATED [GARD:0002796] synonym: "familial hypocalciuric hypercalcemia caused by mutation in CASR" EXACT [MONDO:design_pattern] -synonym: "familial hypocalciuric hypercalcemia type 1" EXACT [DOID:0060700, MONDORULE:1] +synonym: "familial hypocalciuric hypercalcemia type 1" EXACT [MONDORULE:1, Orphanet:93372] synonym: "familial hypocalciuric hypercalcemia type I" EXACT [DOID:0060700] synonym: "FBH1" RELATED ABBREVIATION [GARD:0002796] synonym: "FHH type 1" EXACT [DOID:0060700, Orphanet:93372] -synonym: "Fhh1" RELATED [OMIM:145980] +synonym: "Fhh1" RELATED [] synonym: "HHC1" EXACT ABBREVIATION [DOID:0060700, MONDO:Lexical, OMIM:145980] -synonym: "hpocalciuric hypercalcemia, type I" EXACT [OMIM:145980, OMIM:genemap2] -synonym: "hypercalcemia, familial benign" RELATED [OMIM:145980] +synonym: "hpocalciuric hypercalcemia, type I" EXACT [] +synonym: "hypercalcemia, familial benign" RELATED [] synonym: "hypercalcemia, familial benign type 1" RELATED [GARD:0002796] synonym: "hypocalciuric hypercalcemia type I" EXACT [DOID:0060700] -synonym: "hypocalciuric hypercalcemia, acquired" RELATED [OMIM:145980] -synonym: "hypocalciuric hypercalcemia, familial, type 1" RELATED [GARD:0002796, OMIM:145980] -synonym: "hypocalciuric hypercalcemia, familial, type I" RELATED [MONDO:Lexical, OMIM:145980] +synonym: "hypocalciuric hypercalcemia, acquired" RELATED [] +synonym: "hypocalciuric hypercalcemia, familial, type 1" RELATED [GARD:0002796] +synonym: "hypocalciuric hypercalcemia, familial, type I" RELATED [MONDO:Lexical] xref: DOID:0060700 {source="MONDO:equivalentTo"} xref: GARD:2796 {source="MONDO:GARD"} xref: ICD10CM:E83.5 {source="Orphanet:93372", source="Orphanet:93372/attributed", source="Orphanet:93372/ntbt", source="DOID:0060700"} @@ -159180,17 +159199,17 @@ subset: ordo_etiological_subtype {source="Orphanet:101049"} subset: ordo_subtype_of_a_disorder {source="Orphanet:101049"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial benign hypercalcemia, type 2" RELATED [OMIM:145981] -synonym: "familial hypocalciuric hypercalcemia type 2" EXACT [DOID:0060701, MONDORULE:1] +synonym: "familial benign hypercalcemia, type 2" RELATED [] +synonym: "familial hypocalciuric hypercalcemia type 2" EXACT [DOID:0060701, MONDORULE:1, Orphanet:101049] synonym: "FBH2" RELATED ABBREVIATION [GARD:0009758] synonym: "FHH type 2" EXACT [DOID:0060701, Orphanet:101049] synonym: "HHC2" EXACT ABBREVIATION [DOID:0060701, MONDO:Lexical, OMIM:145981] -synonym: "hpocalciuric hypercalcemia, type II" EXACT [OMIM:145981, OMIM:genemap2] +synonym: "hpocalciuric hypercalcemia, type II" EXACT [] synonym: "hypercalcemia, familial benign type 2" RELATED [GARD:0009758] -synonym: "hypercalcemia, familial benign, type 2" RELATED [OMIM:145981] +synonym: "hypercalcemia, familial benign, type 2" RELATED [] synonym: "hypocalciuric hypercalcemia type II" EXACT [DOID:0060701] -synonym: "hypocalciuric hypercalcemia, familial, type 2" RELATED [GARD:0009758, OMIM:145981] -synonym: "hypocalciuric hypercalcemia, familial, type II" RELATED [MONDO:Lexical, OMIM:145981] +synonym: "hypocalciuric hypercalcemia, familial, type 2" RELATED [GARD:0009758] +synonym: "hypocalciuric hypercalcemia, familial, type II" RELATED [MONDO:Lexical] xref: DOID:0060701 {source="MONDO:equivalentTo"} xref: GARD:9758 {source="MONDO:GARD"} xref: ICD10CM:E83.5 {source="Orphanet:101049/attributed", source="Orphanet:101049/ntbt", source="Orphanet:101049", source="DOID:0060701"} @@ -159215,8 +159234,8 @@ subset: ordo_disorder {source="Orphanet:429"} subset: orphanet_rare {source="Orphanet:429"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146000] -synonym: "hypochondroplasia" EXACT [MONDO:Lexical, OMIM:146000] +synonym: "HCH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypochondroplasia" EXACT [DOID:0080041, icd11.foundation:1930265486, MONDO:Lexical, NCIT:C118697, OMIM:146000, Orphanet:429] xref: DOID:0080041 {source="MONDO:equivalentTo"} xref: GARD:6724 {source="MONDO:GARD"} xref: ICD10CM:Q77.4 {source="Orphanet:429/inclusion", source="Orphanet:429", source="MONDO:directSiblingOf", source="Orphanet:429/ntbt"} @@ -159247,11 +159266,11 @@ def: "A hypogonadotropic hypogonadism that has material basis in homozygous or c subset: gard_rare {source="GARD:2897", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HH7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146110] -synonym: "hypogonadism, isolated hypogonadotropic" RELATED [OMIM:146110] -synonym: "hypogonadotropic hypogonadism 7 with or without anosmia" EXACT [MONDO:Lexical, OMIM:146110] -synonym: "hypogonadotropic hypogonadism 7 without anosmia" EXACT [OMIM:146110, OMIM:genemap2] -synonym: "idiopathic hypogonadotropic hypogonadism" RELATED [OMIM:146110] +synonym: "HH7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadism, isolated hypogonadotropic" RELATED [] +synonym: "hypogonadotropic hypogonadism 7 with or without anosmia" EXACT [DOID:0090078, MONDO:Lexical, OMIM:146110] +synonym: "hypogonadotropic hypogonadism 7 without anosmia" EXACT [] +synonym: "idiopathic hypogonadotropic hypogonadism" RELATED [] xref: DOID:0090078 {source="MONDO:equivalentTo"} xref: GARD:2897 {source="MONDO:GARD"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090078"} @@ -159278,10 +159297,10 @@ subset: orphanet_rare {source="Orphanet:2491"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hypomelia mullerian duct anomalies" RELATED [GARD:0002908] -synonym: "hypomelia with mullerian duct anomalies" RELATED [OMIM:146160] +synonym: "hypomelia with mullerian duct anomalies" RELATED [] synonym: "limb uterus syndrome" RELATED [GARD:0002908] -synonym: "limb-uterus syndrome" RELATED [OMIM:146160] -synonym: "Müllerian duct anomalies-limb anomalies syndrome" RELATED [Orphanet:2491] +synonym: "limb-uterus syndrome" RELATED [] +synonym: "Müllerian duct anomalies-limb anomalies syndrome" RELATED [] synonym: "severe upper limb hypoplasia and Mullerian duct anomalies" RELATED [GARD:0002908] xref: GARD:2908 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2491/attributed", source="Orphanet:2491/ntbt", source="Orphanet:2491"} @@ -159303,13 +159322,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FIH" BROAD ABBREVIATION [OMIM:146200] +synonym: "FIH" BROAD ABBREVIATION [] synonym: "FIH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146200] synonym: "hypoparathyroidism familial isolated" RELATED [GARD:0002910] -synonym: "hypoparathyroidism, autosomal dominant" RELATED [OMIM:146200] -synonym: "hypoparathyroidism, autosomal recessive" RELATED [OMIM:146200] -synonym: "hypoparathyroidism, familial isolated" BROAD [MONDO:Lexical, OMIM:146200] -synonym: "hypoparathyroidism, familial isolated 1" EXACT [OMIM:146200] +synonym: "hypoparathyroidism, autosomal dominant" RELATED [] +synonym: "hypoparathyroidism, autosomal recessive" RELATED [] +synonym: "hypoparathyroidism, familial isolated" BROAD [MONDO:Lexical] +synonym: "hypoparathyroidism, familial isolated 1" EXACT [] xref: MEDGEN:1713884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:146200 {source="GARD:0002910", source="MONDO:equivalentTo"} xref: Orphanet:189466 {source="OMIM:146200"} @@ -159333,16 +159352,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:2237"} subset: orphanet_rare {source="Orphanet:2237"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Barakat Syndrome" EXACT [NORD:837] -synonym: "Barakat syndrome" EXACT [DOID:0060878, OMIM:146255, Orphanet:2237] -synonym: "HDR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146255] -synonym: "HDR syndrome" EXACT [DOID:0060878, Orphanet:2237] +synonym: "Barakat Syndrome" EXACT [DOID:0060878, NCIT:C130983, NORD:837, OMIM:146255, Orphanet:2237] +synonym: "Barakat syndrome" EXACT [DOID:0060878, NCIT:C130983, OMIM:146255, Orphanet:2237] +synonym: "HDR" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "HDR syndrome" EXACT [DOID:0060878, OMIM:146255, Orphanet:2237] synonym: "hypoparathyroidism, deafness, and renal anomalies syndrome" EXACT [NCIT:C130983] synonym: "hypoparathyroidism, sensorineural deafness, and renal disease" EXACT [DOID:0060878, MONDO:Lexical, OMIM:146255] synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia" RELATED [GARD:0002911] -synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome" RELATED [OMIM:146255] -synonym: "hypoparathyroidism-deafness-renal disease syndrome" EXACT CLINGEN_LABEL [] -synonym: "nephrosis, nerve deafness, and hypoparathyroidism" RELATED [OMIM:146255] +synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome" RELATED [] +synonym: "hypoparathyroidism-deafness-renal disease syndrome" EXACT CLINGEN_LABEL [DOID:0060878] +synonym: "nephrosis, nerve deafness, and hypoparathyroidism" RELATED [] xref: DOID:0060878 {source="MONDO:equivalentTo"} xref: GARD:2911 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2237", source="DOID:0060878", source="Orphanet:2237/attributed", source="Orphanet:2237/ntbt"} @@ -159366,14 +159385,14 @@ name: obsolete adult hypophosphatasia def: "OBSOLETE. Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies." [Orphanet:247676] subset: clingen {source="MONDO:CLINGEN"} subset: ordo_subtype_of_a_disorder {source="Orphanet:247676"} -synonym: "adult phosphoethanolaminuria" EXACT [Orphanet:247676] -synonym: "adult Rathburn disease" EXACT [Orphanet:247676] +synonym: "adult phosphoethanolaminuria" EXACT [] +synonym: "adult Rathburn disease" EXACT [] synonym: "hypophosphatasia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] -synonym: "hypophosphatasia, ADULT" RELATED [OMIM:146300] -synonym: "hypophosphatasia, mild" RELATED [OMIM:146300] -synonym: "mild hypophosphatasia" RELATED [DOID:0110913] +synonym: "hypophosphatasia, ADULT" RELATED [] +synonym: "hypophosphatasia, mild" RELATED [] +synonym: "mild hypophosphatasia" RELATED [] synonym: "obsolete adult hypophosphatasia" EXACT CLINGEN_LABEL [] -synonym: "odontohypophosphatasia" RELATED [OMIM:146300] +synonym: "odontohypophosphatasia" RELATED [] xref: DOID:0110913 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.3 {source="Orphanet:247676/attributed", source="Orphanet:247676/ntbt", source="MONDO:relatedTo", source="Orphanet:247676"} xref: OMIM:146300 {source="Orphanet:247676", source="MONDO:obsoleteEquivalent", source="DOID:0110913", source="Orphanet:247676/e"} @@ -159393,7 +159412,7 @@ consider: MONDO:0600011 [Term] id: MONDO:0007799 name: hypophosphatemic bone disease -synonym: "HBD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146350] +synonym: "HBD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hypophosphatemic bone disease" EXACT [MONDO:Lexical, OMIM:146350] xref: MEDGEN:333534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564145 {source="MONDO:equivalentTo"} @@ -159413,17 +159432,17 @@ subset: ordo_group_of_disorders {source="Orphanet:261974"} subset: orphanet_rare {source="Orphanet:1598"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "18p syndrome" EXACT [DOID:0060406, NCIT:C84521, OMIM:146390, Orphanet:1598] +synonym: "18p syndrome" EXACT [NCIT:C84521] synonym: "18p-" EXACT [GARD:0008631] synonym: "chromosome 18p deletion" EXACT [GARD:0008631] -synonym: "chromosome 18p deletion syndrome" EXACT [OMIM:146390] -synonym: "De Grouchy syndrome" EXACT [DOID:0060406, Orphanet:1598] +synonym: "chromosome 18p deletion syndrome" EXACT [DOID:0060406, OMIM:146390] +synonym: "De Grouchy syndrome" EXACT [DOID:0060406] synonym: "deletion 18p syndrome" EXACT [NCIT:C84521] -synonym: "monosomy 18p" EXACT [DOID:0060406] -synonym: "monosomy type 18p" EXACT [MONDORULE:4, Orphanet:1598] +synonym: "monosomy 18p" EXACT [DOID:0060406, Orphanet:1598] +synonym: "monosomy type 18p" EXACT [MONDORULE:4] synonym: "partial deletion of chromosome 18p" EXACT [Orphanet:261974] -synonym: "partial deletion of the short arm of chromosome 18" EXACT [MONDO:0016896] -synonym: "partial deletion of the short arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:261974] +synonym: "partial deletion of the short arm of chromosome 18" EXACT [MONDO:0016896, Orphanet:261974] +synonym: "partial deletion of the short arm of chromosome type 18" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 18p" EXACT [Orphanet:261974] synonym: "partial monosomy of the short arm of chromosome 18" EXACT [Orphanet:261974] xref: DOID:0060406 {source="MONDO:equivalentTo"} @@ -159452,7 +159471,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007801 name: obsolete hypoplasia of teeth roots -synonym: "hypoplasia of teeth roots" RELATED [OMIM:146400] +synonym: "hypoplasia of teeth roots" RELATED [] xref: MESH:C564144 {source="MONDO:obsoleteEquivalent"} xref: OMIM:146400 {source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:99789 {source="MONDO:relatedTo", source="OMIM:146400"} @@ -159466,8 +159485,8 @@ subset: gard_rare {source="GARD:18184", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hypospadias 3, autosomal" EXACT [MONDO:Lexical, OMIM:146450] -synonym: "hypospadias 3, autosomal, multifactorial" EXACT [OMIM:146450, OMIM:genemap2] -synonym: "HYSP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146450] +synonym: "hypospadias 3, autosomal, multifactorial" EXACT [] +synonym: "HYSP3" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18184 {source="MONDO:GARD"} xref: MEDGEN:382538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567191 {source="MONDO:equivalentTo"} @@ -159487,13 +159506,13 @@ subset: ordo_disorder {source="Orphanet:102"} subset: orphanet_rare {source="Orphanet:102"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autonomic failure, Pure" RELATED [OMIM:146500] -synonym: "hypotension, orthostatic" RELATED [OMIM:146500] +synonym: "autonomic failure, Pure" RELATED [] +synonym: "hypotension, orthostatic" RELATED [] synonym: "MSA" EXACT ABBREVIATION [Orphanet:102] -synonym: "multisystem atrophy" EXACT [Orphanet:102] -synonym: "Shy-Drager syndrome" EXACT [DOID:4752] +synonym: "multisystem atrophy" EXACT [icd11.foundation:1890931931, Orphanet:102] +synonym: "Shy-Drager syndrome" EXACT [DOID:4752, NCIT:C84909] synonym: "Shy-dragger syndrome (formerly)" RELATED [GARD:0007079] -synonym: "susceptibility to multiple system atrophy 1" RELATED [OMIM:146500] +synonym: "susceptibility to multiple system atrophy 1" RELATED [] xref: DOID:4752 {source="MONDO:equivalentTo"} xref: EFO:1001050 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7079 {source="MONDO:GARD"} @@ -159528,10 +159547,10 @@ subset: orphanet_rare {source="Orphanet:672"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ano-cerebro-digital syndrome" EXACT [NCIT:C84987] -synonym: "hypothalamic hamartoblastoma syndrome" EXACT [Orphanet:672] +synonym: "hypothalamic hamartoblastoma syndrome" EXACT [NCIT:C84987, Orphanet:672] synonym: "hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly" EXACT [OMIM:146510] synonym: "Pallister Hall syndrome" EXACT [GARD:0007305] -synonym: "Pallister-Hall syndrome" EXACT [MONDO:Lexical, OMIM:146510] +synonym: "Pallister-Hall syndrome" EXACT [DOID:9248, icd11.foundation:1845613381, MONDO:Lexical, NCIT:C84987, OMIM:146510, Orphanet:672] synonym: "PHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146510] xref: DOID:9248 {source="MONDO:equivalentTo"} xref: GARD:7305 {source="MONDO:GARD"} @@ -159562,15 +159581,15 @@ subset: gard_rare {source="GARD:18093", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CDSN hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Htss" RELATED [OMIM:146520] -synonym: "Htss1" RELATED EXCLUDE [DOID:0110699] -synonym: "hypotrichosis 2" EXACT [MONDO:Lexical, OMIM:146520] +synonym: "Htss" RELATED [] +synonym: "Htss1" RELATED EXCLUDE [] +synonym: "hypotrichosis 2" EXACT [DOID:0110699, MONDO:Lexical, OMIM:146520] synonym: "hypotrichosis caused by mutation in CDSN" EXACT [MONDO:design_pattern] synonym: "hypotrichosis simplex of the scalp 1" EXACT [DOID:0110699, OMIM:146520] -synonym: "hypotrichosis type 2" EXACT [DOID:0110699, MONDORULE:1, OMIM:146520] -synonym: "hypotrichosis, Spanish type" RELATED [OMIM:146520] -synonym: "HYPT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146520] -synonym: "hypt2" EXACT [DOID:0110699] +synonym: "hypotrichosis type 2" EXACT [MONDORULE:1] +synonym: "hypotrichosis, Spanish type" RELATED [] +synonym: "HYPT2" EXACT ABBREVIATION [DOID:0110699, OMIM:146520] +synonym: "hypt2" EXACT [] synonym: "Spanish type hypotrichosis" EXACT [DOID:0110699] xref: DOID:0110699 {source="MONDO:equivalentTo"} xref: GARD:18093 {source="MONDO:GARD"} @@ -159614,10 +159633,10 @@ subset: orphanet_rare {source="Orphanet:79503"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Curth-Macklin type ichthyosis hystrix" EXACT [GARD:0002954] -synonym: "ichthyosis histrix, curth-macklin type" EXACT [OMIM:146590, OMIM:genemap2] +synonym: "ichthyosis histrix, curth-macklin type" EXACT [] synonym: "Ichthyosis Hystrix, Curth Macklin Type" EXACT [NORD:1281] synonym: "ichthyosis hystrix, Curth Macklin type" EXACT [GARD:0002954] -synonym: "ichthyosis HYSTRIX, Curth-Macklin type" EXACT [MONDO:Lexical, OMIM:146590] +synonym: "ichthyosis HYSTRIX, Curth-Macklin type" EXACT [MONDO:Lexical, OMIM:146590, Orphanet:79503] synonym: "ichthyosis hystrix, Curth-Macklin type" EXACT [OMIM:146590, Orphanet:79503] synonym: "IHCM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146590] xref: GARD:2954 {source="MONDO:GARD"} @@ -159645,9 +159664,9 @@ subset: gard_rare {source="GARD:9497", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ichthyosis hystrix gravior" EXACT [OMIM:146600] -synonym: "ichthyosis, Lambert type" EXACT [OMIM:146600, Orphanet:79504] +synonym: "ichthyosis, Lambert type" EXACT [] synonym: "Lambert type ichthyosis" RELATED [GARD:0009497] -synonym: "porcupine Man" RELATED [OMIM:146600] +synonym: "porcupine Man" RELATED [] xref: GARD:9497 {source="MONDO:GARD"} xref: ICD10CM:Q80.0 {source="Orphanet:79504", source="MONDO:relatedTo", source="Orphanet:79504/attributed", source="Orphanet:79504/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -159672,8 +159691,8 @@ subset: rare synonym: "autosomal dominant ichthyosis vulgaris" EXACT CLINGEN_LABEL [] synonym: "dominant congenital ichthyosiform erythroderma" EXACT [DOID:1702] synonym: "dominant ichthyosis vulgaris" RELATED [GARD:0001897] -synonym: "ichthyosis simplex" RELATED [OMIM:146700] -synonym: "ichthyosis vulgaris" RELATED [OMIM:146700] +synonym: "ichthyosis simplex" RELATED [] +synonym: "ichthyosis vulgaris" RELATED [] synonym: "ichthyosis vulgaris, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant] xref: DOID:1702 {source="MONDO:equivalentTo"} xref: ICD10CM:Q80.0 {source="MONDO:equivalentTo", source="DOID:1702"} @@ -159702,11 +159721,11 @@ id: MONDO:0007811 name: ichthyosis-cheek-eyebrow syndrome def: "Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant." [Orphanet:2267] subset: otar {source="MONDO:OTAR"} -synonym: "Ice syndrome" RELATED [OMIM:146720] +synonym: "Ice syndrome" RELATED [] synonym: "ichthyosis cheek eyebrow syndrome" RELATED [GARD:0002947] -synonym: "ichthyosis--cheek--eyebrow syndrome" RELATED [OMIM:146720] +synonym: "ichthyosis--cheek--eyebrow syndrome" RELATED [] synonym: "Sidransky Feinstein Goodman syndrome" RELATED [GARD:0002947] -synonym: "Sidransky-Feinstein-Goodman syndrome" EXACT [Orphanet:2267] +synonym: "Sidransky-Feinstein-Goodman syndrome" EXACT [] xref: MEDGEN:326697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536084 {source="Orphanet:2267", source="MONDO:equivalentTo", source="Orphanet:2267/e"} xref: OMIM:146720 {source="Orphanet:2267", source="MONDO:equivalentTo", source="Orphanet:2267/e"} @@ -159728,7 +159747,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ichthyosis lamellar, autosomal dominant" RELATED [GARD:0009735] synonym: "ichthyosis, lamellar, autosomal dominant" EXACT [OMIM:146750] -synonym: "lamellar ichthyosis, autosomal dominant" RELATED [OMIM:146750] +synonym: "lamellar ichthyosis, autosomal dominant" RELATED [] xref: GARD:9735 {source="MONDO:GARD"} xref: MEDGEN:98486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537263 {source="MONDO:equivalentTo"} @@ -159752,12 +159771,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bullous type ichthyosis" EXACT [DOID:0060877] synonym: "bullous type of ichthyosis" RELATED [GARD:0002966] -synonym: "IBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146800] -synonym: "ichthyosis bullosa of Siemens" EXACT [MONDO:Lexical, OMIM:146800, Orphanet:455] -synonym: "ichthyosis exfoliativa" RELATED [OMIM:146800] -synonym: "ichthyosis, bullous type" RELATED [OMIM:146800] +synonym: "IBS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ichthyosis bullosa of Siemens" EXACT [DOID:0060877, icd11.foundation:842172475, MONDO:Lexical, NCIT:C84777, OMIM:146800, Orphanet:455] +synonym: "ichthyosis exfoliativa" RELATED [] +synonym: "ichthyosis, bullous type" RELATED [] synonym: "SEI" EXACT ABBREVIATION [Orphanet:455, PMID:20643494] -synonym: "superficial epidermolytic ichthyosis" EXACT [DOID:0060877, PMID:20643494] +synonym: "superficial epidermolytic ichthyosis" EXACT [DOID:0060877, icd11.foundation:842172475, Orphanet:455, PMID:20643494] xref: DOID:0060877 {source="MONDO:equivalentTo"} xref: GARD:2966 {source="MONDO:GARD"} xref: ICD10CM:Q80.8 {source="Orphanet:455", source="Orphanet:455/attributed", source="Orphanet:455/ntbt", source="DOID:0060877"} @@ -159804,10 +159823,10 @@ replaced_by: MONDO:0007818 [Term] id: MONDO:0007816 name: obsolete immune suppression -synonym: "immune suppression" EXACT [MONDO:Lexical, OMIM:146850] -synonym: "IS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:146850] -synonym: "Iscw" RELATED [OMIM:146850] -synonym: "streptococcal cell wall antigen, suppression of immune response to" RELATED [OMIM:146850] +synonym: "immune suppression" EXACT [MONDO:Lexical] +synonym: "IS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Iscw" RELATED [] +synonym: "streptococcal cell wall antigen, suppression of immune response to" RELATED [] xref: OMIM:146850 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeBiologicalProcess"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI @@ -159818,16 +159837,16 @@ id: MONDO:0007817 name: IgE responsiveness, atopic def: "Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue." [NCIT:C3116] subset: otar {source="MONDO:OTAR"} -synonym: "Atopic hypersensitivity" RELATED [OMIM:147050] -synonym: "atopy, susceptibility to" RELATED [OMIM:147050] -synonym: "IgE response underlying allergic asthma and rhinitis" RELATED [OMIM:147050] -synonym: "IgE responsiveness, ATOPIC" RELATED [OMIM:147050] +synonym: "Atopic hypersensitivity" RELATED [] +synonym: "atopy, susceptibility to" RELATED [] +synonym: "IgE response underlying allergic asthma and rhinitis" RELATED [] +synonym: "IgE responsiveness, ATOPIC" RELATED [] synonym: "IgE responsiveness, atopic" EXACT [MONDO:Lexical, OMIM:147050] -synonym: "IgE, elevated level of" EXACT [OMIM:147050, OMIM:genemap2] -synonym: "IgE, level of" RELATED [OMIM:147050] -synonym: "IGER" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147050] +synonym: "IgE, elevated level of" EXACT [] +synonym: "IgE, level of" RELATED [] +synonym: "IGER" RELATED ABBREVIATION [MONDO:Lexical] synonym: "immediate hypersensitivity" EXACT [NCIT:C3116] -synonym: "Immunoglobulin E, basic level of, in serum" RELATED [OMIM:147050] +synonym: "Immunoglobulin E, basic level of, in serum" RELATED [] synonym: "type 1 hypersensitivity" EXACT [NCIT:C3116] synonym: "type 1 hypersensitivity reaction" EXACT [NCIT:C3116] synonym: "type I hypersensitivity" EXACT [NCIT:C3116] @@ -159854,27 +159873,27 @@ subset: orphanet_rare {source="Orphanet:2314"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AD hyperimmunoglobulin E syndrome" EXACT [GARD:0006800] -synonym: "AD-HIES" EXACT [GARD:0006800, Orphanet:2314] -synonym: "autosomal dominant HIES" EXACT [Orphanet:2314] +synonym: "AD-HIES" EXACT [GARD:0006800] +synonym: "autosomal dominant HIES" EXACT [] synonym: "autosomal dominant hyper IgE syndrome" EXACT [GARD:0006800] synonym: "autosomal dominant hyper-IgE syndrome" EXACT [NCIT:C126342] -synonym: "autosomal dominant hyperimmunoglobulin E syndrome" EXACT [Orphanet:2314] +synonym: "autosomal dominant hyperimmunoglobulin E syndrome" EXACT [] synonym: "Buckley syndrome" EXACT [Orphanet:2314] synonym: "HIES autosomal dominant" EXACT [GARD:0006800] synonym: "HIES, autosomal dominant" EXACT [OMIM:147060] synonym: "hyper Ig E syndrome, autosomal dominant" EXACT [GARD:0006800] -synonym: "hyper-IgE recurrent infection syndrome" BROAD [NCIT:C126342] -synonym: "hyper-IgE recurrent infection syndrome, autosomal dominant" EXACT [OMIM:147060] -synonym: "hyper-IgE syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +synonym: "hyper-IgE recurrent infection syndrome" BROAD [] +synonym: "hyper-IgE recurrent infection syndrome, autosomal dominant" EXACT [] +synonym: "hyper-IgE syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:147060] synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant" EXACT [GARD:0006800] -synonym: "hyperimmunoglobulin E syndrome" BROAD EXCLUDE [DOID:3261] -synonym: "hyperimmunoglobulin E syndrome type 1" EXACT [Orphanet:2314] -synonym: "hyperimmunoglobulin E-recurrent infection syndrome" BROAD [Orphanet:2314] -synonym: "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist" EXACT [OMIM:146840] -synonym: "JOB syndrome" EXACT [DOID:3261, OMIM:147060, Orphanet:2314] +synonym: "hyperimmunoglobulin E syndrome" BROAD EXCLUDE [] +synonym: "hyperimmunoglobulin E syndrome type 1" EXACT [] +synonym: "hyperimmunoglobulin E-recurrent infection syndrome" BROAD [] +synonym: "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist" EXACT [] +synonym: "JOB syndrome" EXACT [DOID:3261, NCIT:C126342, OMIM:147060, Orphanet:2314] synonym: "Job syndrome autosomal dominant" EXACT [GARD:0006800] -synonym: "Job's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "STAT3 deficiency" EXACT [Orphanet:2314] +synonym: "Job's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:3261, MONDO:LexicalVariant, NCIT:C126342] +synonym: "STAT3 deficiency" EXACT [NCIT:C126342] xref: DOID:3261 {source="EFO:0003775", source="MONDO:equivalentTo"} xref: GARD:6800 {source="MONDO:GARD"} xref: ICD10CM:D82.4 {source="Orphanet:2314", source="Orphanet:2314/attributed", source="Orphanet:2314/ntbt"} @@ -159909,16 +159928,16 @@ subset: gard_rare {source="GARD:4877", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fused incisors" RELATED [OMIM:147250] +synonym: "Fused incisors" RELATED [] synonym: "incisors fused" RELATED [GARD:0004877] -synonym: "incisors, Fused" RELATED [OMIM:147250] -synonym: "single central maxillary incisor" RELATED [OMIM:147250] -synonym: "single median maxillary central incisor" EXACT [OMIM:147250, OMIM:genemap2] -synonym: "single upper central incisor" EXACT [OMIM:147250, Orphanet:2286] -synonym: "SMMCI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:147250, Orphanet:2286] -synonym: "SMMCI syndrome" RELATED [OMIM:147250] -synonym: "solitary MEDIAN maxillary central incisor" RELATED [MONDO:Lexical, OMIM:147250] -synonym: "solitary median maxillary central incisor syndrome" EXACT [OMIM:147250] +synonym: "incisors, Fused" RELATED [] +synonym: "single central maxillary incisor" RELATED [] +synonym: "single median maxillary central incisor" EXACT [] +synonym: "single upper central incisor" EXACT [OMIM:147250] +synonym: "SMMCI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:147250] +synonym: "SMMCI syndrome" RELATED [] +synonym: "solitary MEDIAN maxillary central incisor" RELATED [MONDO:Lexical] +synonym: "solitary median maxillary central incisor syndrome" EXACT [icd11.foundation:1834868112] xref: GARD:4877 {source="MONDO:GARD"} xref: ICD10CM:K00.2 {source="Orphanet:2286", source="Orphanet:2286/attributed", source="Orphanet:2286/ntbt"} xref: icd11.foundation:1834868112 {source="MONDO:equivalentTo"} @@ -159946,9 +159965,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:2287"} subset: orphanet_rare {source="Orphanet:2287"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "'Double Tooth'" RELATED [OMIM:147251] +synonym: "'Double Tooth'" RELATED [] synonym: "Double tooth" RELATED [GARD:0002419] -synonym: "incisors, FUSED mandibular" RELATED [OMIM:147251] +synonym: "incisors, FUSED mandibular" RELATED [] xref: GARD:2419 {source="MONDO:GARD"} xref: ICD10CM:K00.2 {source="Orphanet:2287", source="Orphanet:2287/attributed", source="Orphanet:2287/ntbt"} xref: icd11.foundation:1109888650 {source="MONDO:equivalentTo"} @@ -159965,9 +159984,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2419/fused-m id: MONDO:0007821 name: obsolete immunoglobulin switch sequences comment: Reason: out of scope. -synonym: "immunoglobulin switch sequences" EXACT [OMIM:147260] -synonym: "Immunoglobulin-independent switch Sequences" RELATED [OMIM:147260] -synonym: "S Sequences" RELATED [OMIM:147260] +synonym: "immunoglobulin switch sequences" EXACT [] +synonym: "Immunoglobulin-independent switch Sequences" RELATED [] +synonym: "S Sequences" RELATED [] xref: OMIM:147260 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3955" xsd:anyURI @@ -159977,7 +159996,7 @@ is_obsolete: true id: MONDO:0007822 name: obsolete incisors, long upper central comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0000675 -synonym: "incisors, long upper central" EXACT [OMIM:147300] +synonym: "incisors, long upper central" EXACT [] xref: OMIM:147300 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -159988,8 +160007,8 @@ consider: HP:0000675 id: MONDO:0007823 name: obsolete insulin receptors, familial increase 1N comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "insulin receptors, familial increase IN" RELATED [OMIM:147320] -synonym: "insulin receptors, familial increase type 1N" EXACT [MONDORULE:4, OMIM:147320] +synonym: "insulin receptors, familial increase IN" RELATED [] +synonym: "insulin receptors, familial increase type 1N" EXACT [MONDORULE:4] xref: OMIM:147320 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -160018,7 +160037,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0007826 name: incisors, shovel-shaped synonym: "incisors, shovel-shaped" EXACT [OMIM:147400] -synonym: "Sinodonty" RELATED [OMIM:147400] +synonym: "Sinodonty" RELATED [] xref: MEDGEN:278058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:147400 {source="MONDO:equivalentTo"} xref: UMLS:C1409763 {source="MEDGEN:278058", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -160034,22 +160053,22 @@ subset: ordo_disorder {source="Orphanet:611"} subset: orphanet_rare {source="Orphanet:611"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "distal myopathy with rimmed vacuoles" RELATED EXCLUDE [DOID:3429] -synonym: "distal myopathy with rimmed vacuoles (DMRV)" RELATED EXCLUDE [DOID:3429] -synonym: "distal myopathy, Nonaka type" RELATED EXCLUDE [DOID:3429] -synonym: "hereditary inclusion body myopathy" RELATED EXCLUDE [DOID:3429] -synonym: "HIBM" RELATED EXCLUDE [DOID:3429] -synonym: "IBM" EXACT ABBREVIATION [Orphanet:611] -synonym: "Ibm" RELATED [OMIM:147421] -synonym: "IBM-3" RELATED EXCLUDE [DOID:3429] -synonym: "IBM2" RELATED EXCLUDE [DOID:3429] -synonym: "inclusion body myopathy 2" RELATED EXCLUDE [DOID:3429] -synonym: "inclusion body myopathy 3" RELATED EXCLUDE [DOID:3429] -synonym: "inclusion body myositis" EXACT [OMIM:147421] +synonym: "distal myopathy with rimmed vacuoles" RELATED EXCLUDE [] +synonym: "distal myopathy with rimmed vacuoles (DMRV)" RELATED EXCLUDE [] +synonym: "distal myopathy, Nonaka type" RELATED EXCLUDE [] +synonym: "hereditary inclusion body myopathy" RELATED EXCLUDE [] +synonym: "HIBM" RELATED EXCLUDE [] +synonym: "IBM" EXACT ABBREVIATION [OMIM:147421, Orphanet:611] +synonym: "Ibm" RELATED [] +synonym: "IBM-3" RELATED EXCLUDE [] +synonym: "IBM2" RELATED EXCLUDE [] +synonym: "inclusion body myopathy 2" RELATED EXCLUDE [] +synonym: "inclusion body myopathy 3" RELATED EXCLUDE [] +synonym: "inclusion body myositis" EXACT [DOID:3429, NCIT:C84786, OMIM:147421, Orphanet:611] synonym: "inflammatory myopathy" RELATED [GARD:0003896] -synonym: "Nonaka myopathy" RELATED EXCLUDE [DOID:3429] +synonym: "Nonaka myopathy" RELATED EXCLUDE [] synonym: "sIBM" EXACT [Orphanet:611] -synonym: "Sporadic Inclusion Body Myositis" EXACT [NORD:1734] +synonym: "Sporadic Inclusion Body Myositis" EXACT [NORD:1734, Orphanet:611] synonym: "sporadic inclusion body myositis" EXACT [Orphanet:611] xref: DOID:3429 {source="EFO:0007323", source="MONDO:equivalentTo"} xref: EFO:0007323 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -160074,12 +160093,12 @@ is_a: MONDO:0021167 {source="DOID:3429", source="EFO:0007323", source="MESH:D018 [Term] id: MONDO:0007828 name: indifference to pain, congenital, autosomal dominant -synonym: "congenital analgesia, autosomal dominant" RELATED [OMIM:147430] -synonym: "indifference to pain, congenital, autosomal dominant" EXACT [OMIM:147430] -synonym: "insensitivity to pain, congenital, autosomal dominant" RELATED [OMIM:147430] -synonym: "MARSILI syndrome" RELATED [OMIM:147430] -synonym: "Marsili syndrome" RELATED [OMIM:147430] -synonym: "MARSIS" RELATED ABBREVIATION [OMIM:147430] +synonym: "congenital analgesia, autosomal dominant" RELATED [] +synonym: "indifference to pain, congenital, autosomal dominant" EXACT [] +synonym: "insensitivity to pain, congenital, autosomal dominant" RELATED [] +synonym: "MARSILI syndrome" RELATED [] +synonym: "Marsili syndrome" RELATED [] +synonym: "MARSIS" RELATED ABBREVIATION [] xref: DOID:0081075 {source="MONDO:equivalentTo"} xref: MEDGEN:1613569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564128 {source="MONDO:equivalentTo"} @@ -160094,9 +160113,9 @@ subset: gard_rare {source="GARD:15079", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cholestasis, intrahepatic, of pregnancy, 1" EXACT [MONDO:Lexical, OMIM:147480] -synonym: "cholestasis, intrahepatic, of pregnancy, type 1" EXACT [MONDORULE:1, OMIM:147480] -synonym: "cholestasis, pregnancy-related, 1" RELATED [OMIM:147480] -synonym: "ICP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147480] +synonym: "cholestasis, intrahepatic, of pregnancy, type 1" EXACT [MONDORULE:1] +synonym: "cholestasis, pregnancy-related, 1" RELATED [] +synonym: "ICP1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070228 {source="MONDO:equivalentTo"} xref: GARD:15079 {source="MONDO:GARD"} xref: MEDGEN:762759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -160149,11 +160168,11 @@ id: MONDO:0007834 name: islet cell adenomatosis def: "A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia." [NCIT:C4375] subset: otar {source="MONDO:OTAR"} -synonym: "INSDM" RELATED ABBREVIATION [OMIM:147630] -synonym: "INSULINOMATOSIS and diabetes mellitus" RELATED [OMIM:147630] -synonym: "Insulinomatosis and diabetes mellitus" RELATED [OMIM:147630] -synonym: "islet cell adenomatosis" EXACT [OMIM:147630] -synonym: "nesidioblastosis" RELATED [NCIT:C4375] +synonym: "INSDM" RELATED ABBREVIATION [] +synonym: "INSULINOMATOSIS and diabetes mellitus" RELATED [] +synonym: "Insulinomatosis and diabetes mellitus" RELATED [] +synonym: "islet cell adenomatosis" EXACT [NCIT:C4375, OMIM:147630] +synonym: "nesidioblastosis" RELATED [] xref: MEDGEN:293643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563258 {source="MONDO:equivalentTo"} xref: NCIT:C4375 {source="MONDO:equivalentTo"} @@ -160168,8 +160187,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0007835 name: intussusception def: "Telescoping or invagination of a part of the intestine into an adjacent segment." [NCIT:P378] -synonym: "intussusception" EXACT [OMIM:147710] -synonym: "intussusception (morphologic abnormality)" EXACT [DOID:8446] +synonym: "intussusception" EXACT [DOID:8446, ICD10CM:K56.1, OMIM:147710] +synonym: "intussusception (morphologic abnormality)" EXACT [] synonym: "intussusception of intestine" EXACT [DOID:8446] synonym: "invagination of intestine or colon" EXACT [DOID:8446] xref: DOID:8446 {source="MONDO:equivalentTo"} @@ -160199,12 +160218,12 @@ subset: orphanet_rare {source="Orphanet:2307"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Instituto venezolano de Investigaciones Cientificas syndrome" RELATED [GARD:0000269] -synonym: "IVIC syndrome" EXACT [OMIM:147750] -synonym: "oculo-oto-radial syndrome" EXACT [Orphanet:2307] -synonym: "oculootoradial syndrome" RELATED [OMIM:147750] +synonym: "IVIC syndrome" EXACT [DOID:0111381, OMIM:147750, Orphanet:2307] +synonym: "oculo-oto-radial syndrome" EXACT [DOID:0111381, Orphanet:2307] +synonym: "oculootoradial syndrome" RELATED [] synonym: "OORS" RELATED ABBREVIATION [GARD:0000269] -synonym: "radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" RELATED [OMIM:147750] -synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT [Orphanet:2307] +synonym: "radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" RELATED [] +synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT [DOID:0111381, OMIM:147750, Orphanet:2307] xref: DOID:0111381 {source="MONDO:equivalentTo"} xref: GARD:269 {source="MONDO:GARD"} xref: ICD10CM:Q71.8 {source="Orphanet:2307/attributed", source="Orphanet:2307/ntbt", source="Orphanet:2307"} @@ -160232,11 +160251,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2316"} subset: orphanet_rare {source="Orphanet:2316"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Aadh syndrome" RELATED [OMIM:147770] +synonym: "Aadh syndrome" RELATED [] synonym: "alopecia anosmia deafness hypogonadism syndrome" RELATED [GARD:0000378] synonym: "alopecia-anosmia-conductive hearing loss-hypogonadism syndrome" EXACT [Orphanet:2316] synonym: "alopecia-anosmia-deafness-hypogonadism syndrome" EXACT [OMIM:147770, Orphanet:2316] -synonym: "Johnson neuroectodermal syndrome" EXACT [OMIM:147770] +synonym: "Johnson neuroectodermal syndrome" EXACT [icd11.foundation:1480597785, OMIM:147770, Orphanet:2316] synonym: "Johnson-McMillin syndrome" EXACT [OMIM:147770, Orphanet:2316] xref: GARD:378 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2316", source="Orphanet:2316/attributed", source="Orphanet:2316/ntbt"} @@ -160265,17 +160284,17 @@ subset: orphanet_rare {source="Orphanet:2308"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "11q terminal deletion disorder" EXACT [NCIT:C75457] -synonym: "chromosome 11q deletion syndrome" RELATED [OMIM:147791] +synonym: "chromosome 11q deletion syndrome" RELATED [] synonym: "Del(11)(q23.3)" EXACT [Orphanet:2308] synonym: "Del(11)(qter)" EXACT [Orphanet:2308] synonym: "distal deletion 11q" EXACT [Orphanet:2308] synonym: "distal monosomy 11q" EXACT [Orphanet:2308] -synonym: "Jacobsen syndrome" EXACT [MONDO:Lexical, OMIM:147791] -synonym: "Jacobsen syndrome, Isolated cases" EXACT [OMIM:147791, OMIM:genemap2] -synonym: "JBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147791] -synonym: "monosomy 11qter" EXACT [Orphanet:2308] -synonym: "partial 11q monosomy syndrome" RELATED [OMIM:147791] -synonym: "telomeric deletion 11q" EXACT [Orphanet:2308] +synonym: "Jacobsen syndrome" EXACT [DOID:0111723, icd11.foundation:27788176, MONDO:Lexical, NCIT:C75457, OMIM:147791, Orphanet:2308] +synonym: "Jacobsen syndrome, Isolated cases" EXACT [] +synonym: "JBS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "monosomy 11qter" EXACT [icd11.foundation:27788176, Orphanet:2308] +synonym: "partial 11q monosomy syndrome" RELATED [] +synonym: "telomeric deletion 11q" EXACT [icd11.foundation:27788176, Orphanet:2308] xref: DOID:0111723 {source="MONDO:equivalentTo"} xref: GARD:307 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:2308", source="Orphanet:2308/attributed", source="Orphanet:2308/ntbt"} @@ -160305,12 +160324,12 @@ subset: orphanet_rare {source="Orphanet:916"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Aase-Smith I syndrome" EXACT [Orphanet:916] -synonym: "Aase-Smith syndrome" EXACT [OMIM:147800] -synonym: "Aase-Smith syndrome 1" RELATED [OMIM:147800] -synonym: "Aase-Smith syndrome I" RELATED [OMIM:147800] -synonym: "Aase-Smith syndrome type 1" EXACT [MONDORULE:1, OMIM:147800] +synonym: "Aase-Smith syndrome" EXACT [OMIM:147800, Orphanet:916] +synonym: "Aase-Smith syndrome 1" RELATED [] +synonym: "Aase-Smith syndrome I" RELATED [] +synonym: "Aase-Smith syndrome type 1" EXACT [MONDORULE:1] synonym: "hydrocephalus-cleft palate-joint contractures syndrome" EXACT [Orphanet:916] -synonym: "Joint contractures with Other abnormalities" RELATED [OMIM:147800] +synonym: "Joint contractures with Other abnormalities" RELATED [] xref: GARD:5642 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:916/attributed", source="Orphanet:916/ntbt", source="Orphanet:916"} xref: MedDRA:10063429 {source="Orphanet:916/e", source="Orphanet:916"} @@ -160346,15 +160365,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital coxa vara, patella aplasia and tarsal synostosis" RELATED [GARD:0003030] synonym: "Coxo-podo-patellar syndrome" RELATED [GARD:0003030] -synonym: "coxopodopatellar syndrome" EXACT CLINGEN_LABEL [OMIM:147891] -synonym: "ICPPS" RELATED ABBREVIATION [OMIM:147891] -synonym: "ischiocoxopodopatellar syndrome" RELATED [OMIM:147891] -synonym: "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" EXACT [OMIM:147891, OMIM:genemap2] -synonym: "ischiopatellar dysplasia" EXACT [Orphanet:1509] +synonym: "coxopodopatellar syndrome" EXACT CLINGEN_LABEL [icd11.foundation:794154672, OMIM:147891, Orphanet:1509] +synonym: "ICPPS" RELATED ABBREVIATION [] +synonym: "ischiocoxopodopatellar syndrome" RELATED [] +synonym: "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" EXACT [DOID:0111382, OMIM:147891] +synonym: "ischiopatellar dysplasia" EXACT [DOID:0111382, OMIM:147891, Orphanet:1509] synonym: "patella aplasia, coxa vara, tarsal synostosis" RELATED [GARD:0003030] -synonym: "Scott-Taor syndrome" EXACT [OMIM:147891, Orphanet:1509] -synonym: "small patella syndrome" EXACT [MONDO:Lexical, OMIM:147891, Orphanet:1509] -synonym: "SPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147891, Orphanet:1509] +synonym: "Scott-Taor syndrome" EXACT [DOID:0111382, OMIM:147891, Orphanet:1509] +synonym: "small patella syndrome" EXACT [DOID:0111382, MONDO:Lexical, OMIM:147891, Orphanet:1509] +synonym: "SPS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111382 {source="MONDO:equivalentTo"} xref: GARD:3030 {source="MONDO:GARD"} xref: ICD10CM:Q74.1 {source="Orphanet:1509/attributed", source="Orphanet:1509/ntbt", source="Orphanet:1509"} @@ -160382,17 +160401,17 @@ subset: ordo_disorder {source="Orphanet:2295"} subset: orphanet_rare {source="Orphanet:2295"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "articular hypermobility syndrome" RELATED [OMIM:147900] +synonym: "articular hypermobility syndrome" RELATED [] synonym: "EDS 11 (formerly)" RELATED [GARD:0003054] -synonym: "EDS XI" EXACT [Orphanet:2295] -synonym: "EDS Xi" RELATED [OMIM:147900] -synonym: "EDS Xi, formerly" RELATED [OMIM:147900] -synonym: "EDS11" RELATED ABBREVIATION [OMIM:147900] -synonym: "EDS11, formerly" RELATED [OMIM:147900] -synonym: "Ehlers-Danlos syndrome type 11, formerly" EXACT [OMIM:147900] +synonym: "EDS XI" EXACT [] +synonym: "EDS Xi" RELATED [] +synonym: "EDS Xi, formerly" RELATED [] +synonym: "EDS11" RELATED ABBREVIATION [] +synonym: "EDS11, formerly" RELATED [] +synonym: "Ehlers-Danlos syndrome type 11, formerly" EXACT [] synonym: "Ehlers-Danlos syndrome, type 11 (formerly)" RELATED [GARD:0003054] -synonym: "Ehlers-Danlos syndrome, type Xi" RELATED [OMIM:147900] -synonym: "Ehlers-Danlos syndrome, type Xi, formerly" RELATED [OMIM:147900] +synonym: "Ehlers-Danlos syndrome, type Xi" RELATED [] +synonym: "Ehlers-Danlos syndrome, type Xi, formerly" RELATED [] synonym: "familial joint instability syndrome" EXACT [OMIM:147900, Orphanet:2295] synonym: "familial joint laxity" EXACT [Orphanet:2295] synonym: "Joint instability syndrome" EXACT [Orphanet:2295] @@ -160415,13 +160434,13 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "KABUK1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147920] -synonym: "Kabuki make-Up syndrome" RELATED [OMIM:147920] -synonym: "Kabuki syndrome" RELATED [OMIM:147920] -synonym: "KABUKI syndrome 1" RELATED [OMIM:147920] +synonym: "KABUK1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Kabuki make-Up syndrome" RELATED [] +synonym: "Kabuki syndrome" RELATED [] +synonym: "KABUKI syndrome 1" RELATED [] synonym: "Kabuki syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:147920] -synonym: "Kabuki syndrome type 1" EXACT [MONDORULE:1, OMIM:147920] -synonym: "Niikawa-Kuroki syndrome" RELATED [OMIM:147920] +synonym: "Kabuki syndrome type 1" EXACT [MONDORULE:1] +synonym: "Niikawa-Kuroki syndrome" RELATED [] xref: OMIM:147920 {source="MONDO:equivalentTo"} xref: Orphanet:2322 {source="OMIM:147920"} is_a: MONDO:0016512 {source="DC-OMIM:147920", source="OMIM:147920"} ! Kabuki syndrome @@ -160436,11 +160455,11 @@ subset: gard_rare {source="GARD:3070", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FGFR1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:147950] -synonym: "hypogonadotropic hypogonadism 2 with or without anosmia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:147950] +synonym: "HH2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 2 with or without anosmia" EXACT CLINGEN_LABEL [DOID:0090083, MONDO:Lexical, OMIM:147950] synonym: "hypogonadotropic hypogonadism caused by mutation in FGFR1" EXACT [MONDO:design_pattern] synonym: "KAL2" RELATED ABBREVIATION [GARD:0003070] -synonym: "Kallmann syndrome 2" RELATED [OMIM:147950] +synonym: "Kallmann syndrome 2" RELATED [] xref: DOID:0090083 {source="MONDO:equivalentTo"} xref: GARD:3070 {source="MONDO:GARD"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090083"} @@ -160460,9 +160479,9 @@ subset: inferred_rare subset: predisposition subset: rare synonym: "Kaposi sarcoma, susceptibility to" EXACT [OMIM:148000] -synonym: "multicentric Castleman disease, susceptibility to" RELATED [OMIM:148000] -synonym: "multiple idiopathic pigmented hemangiosarcoma, susceptibility to" RELATED [OMIM:148000] -synonym: "susceptibility to Kaposi sarcoma" RELATED [OMIM:148000] +synonym: "multicentric Castleman disease, susceptibility to" RELATED [] +synonym: "multiple idiopathic pigmented hemangiosarcoma, susceptibility to" RELATED [] +synonym: "susceptibility to Kaposi sarcoma" RELATED [] xref: MEDGEN:761233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:148000 {source="MONDO:equivalentTo"} xref: Orphanet:160 {source="MONDO:relatedTo", source="OMIM:148000"} @@ -160483,10 +160502,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:2332"} subset: orphanet_rare {source="Orphanet:2332"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "KBG syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:148050] -synonym: "KBGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148050] -synonym: "macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies" RELATED [OMIM:148050] -synonym: "macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies" RELATED DEPRECATED [OMIM:148050] +synonym: "KBG syndrome" EXACT CLINGEN_LABEL [DOID:14780, icd11.foundation:465550090, MONDO:Lexical, OMIM:148050, Orphanet:2332] +synonym: "KBGS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies" RELATED [] +synonym: "macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies" RELATED DEPRECATED [] synonym: "short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies" RELATED [GARD:0000082] synonym: "short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies" RELATED DEPRECATED [GARD:0000082] synonym: "short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome" EXACT [Orphanet:2332] @@ -160530,9 +160549,9 @@ subset: orphanet_rare {source="Orphanet:2334"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dominantly inherited keratitis" RELATED [GARD:0003089] -synonym: "hereditary keratitis" EXACT [Orphanet:2334] +synonym: "hereditary keratitis" EXACT [DOID:0111383, Orphanet:2334] synonym: "keratitis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -synonym: "keratitis, hereditary" RELATED [OMIM:148190] +synonym: "keratitis, hereditary" RELATED [] xref: DOID:0111383 {source="MONDO:equivalentTo"} xref: GARD:3089 {source="MONDO:GARD"} xref: ICD10CM:H16.8 {source="Orphanet:2334/attributed", source="Orphanet:2334/ntbt", source="Orphanet:2334"} @@ -160559,12 +160578,12 @@ subset: ordo_disorder {source="Orphanet:647815"} subset: orphanet_rare {source="Orphanet:647815"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "KEFH" RELATED ABBREVIATION [OMIM:148200] -synonym: "keratitis fugax hereditaria" EXACT [OMIM:148200] -synonym: "KERATOENDOTHELIITIS fugax hereditaria" RELATED [OMIM:148200] -synonym: "Keratoendotheliitis fugax hereditaria" RELATED [OMIM:148200] -synonym: "keratoendotheliitis fugax hereditaria" EXACT [Orphanet:647815] -synonym: "keratoendothelitis fugax hereditaria" EXACT [OMIM:148200, OMIM:genemap2] +synonym: "KEFH" RELATED ABBREVIATION [] +synonym: "keratitis fugax hereditaria" EXACT [OMIM:148200, Orphanet:647815] +synonym: "KERATOENDOTHELIITIS fugax hereditaria" RELATED [] +synonym: "Keratoendotheliitis fugax hereditaria" RELATED [] +synonym: "keratoendotheliitis fugax hereditaria" EXACT [OMIM:148200, Orphanet:647815] +synonym: "keratoendothelitis fugax hereditaria" EXACT [] xref: MEDGEN:372107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563650 {source="MONDO:equivalentTo"} xref: OMIM:148200 {source="MONDO:equivalentTo"} @@ -160581,10 +160600,10 @@ def: "Autosomal dominant form of KID syndrome." [MONDO:patterns/autosomal_domina subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant keratitis-ichthyosis-deafness syndrome" NARROW [DOID:0060871] +synonym: "autosomal dominant keratitis-ichthyosis-deafness syndrome" NARROW [] synonym: "autosomal dominant KID syndrome" EXACT [DOID:0060871] -synonym: "keratitis-ichthyosis -deafness syndrome" EXACT [OMIM:148210, OMIM:genemap2] -synonym: "keratitis-ichthyosis-deafness syndrome, autosomal dominant" NARROW [OMIM:148210] +synonym: "keratitis-ichthyosis -deafness syndrome" EXACT [] +synonym: "keratitis-ichthyosis-deafness syndrome, autosomal dominant" NARROW [] synonym: "KID syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:148210] xref: DOID:0060871 {source="MONDO:equivalentTo"} xref: ICD10CM:Q80.8 {source="DOID:0060871"} @@ -160608,8 +160627,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "keratoconus (disease) caused by mutation in VSX1" EXACT [] synonym: "keratoconus 1" EXACT [MONDO:Lexical, OMIM:148300] -synonym: "keratoconus type 1" EXACT [MONDORULE:1, OMIM:148300] -synonym: "KTCN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148300] +synonym: "keratoconus type 1" EXACT [MONDORULE:1] +synonym: "KTCN1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "VSX1 keratoconus (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: MEDGEN:372103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563649 {source="MONDO:equivalentTo"} @@ -160636,12 +160655,12 @@ synonym: "focal palmoplantar keratoderma with sensorineural deafness (subtype)" synonym: "hereditary palmoplantar keratoderma with deafness (subtype)" RELATED [GARD:0003094] synonym: "keratoderma palmoplantar deafness" RELATED [GARD:0003094] synonym: "keratoderma palmoplantar, with deafness" RELATED [GARD:0003094] -synonym: "keratoderma, palmoplantar, with deafness" RELATED [OMIM:148350] -synonym: "palmoplantar hyperkeratosis-deafness syndrome" EXACT [Orphanet:2202] -synonym: "palmoplantar hyperkeratosis-hearing loss syndrome" EXACT [Orphanet:2202] +synonym: "keratoderma, palmoplantar, with deafness" RELATED [] +synonym: "palmoplantar hyperkeratosis-deafness syndrome" EXACT [DOID:0111505, Orphanet:2202] +synonym: "palmoplantar hyperkeratosis-hearing loss syndrome" EXACT [DOID:0111505, Orphanet:2202] synonym: "palmoplantar keratoderma and sensorineural deafness" RELATED [GARD:0003094] -synonym: "palmoplantar keratoderma-hearing loss syndrome" EXACT [Orphanet:2202] -synonym: "PPK-deafness syndrome" EXACT [Orphanet:2202] +synonym: "palmoplantar keratoderma-hearing loss syndrome" EXACT [DOID:0111505, Orphanet:2202] +synonym: "PPK-deafness syndrome" EXACT [DOID:0111505, Orphanet:2202] xref: DOID:0111505 {source="MONDO:equivalentTo"} xref: GARD:3094 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:2202/attributed", source="Orphanet:2202/ntbt", source="Orphanet:2202"} @@ -160662,8 +160681,8 @@ subset: ordo_disorder {source="Orphanet:538574"} subset: orphanet_rare {source="Orphanet:538574"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "axonal neuropathy with palmoplantar keratoderma" RELATED [OMIM:148360] -synonym: "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy" RELATED [OMIM:148360] +synonym: "axonal neuropathy with palmoplantar keratoderma" RELATED [] +synonym: "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy" RELATED [] synonym: "keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy" EXACT [OMIM:148360] xref: GARD:17977 {source="MONDO:GARD"} xref: MEDGEN:322722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -160689,12 +160708,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Erythrokeratolysis hiemalis" EXACT [Orphanet:50943] synonym: "Erythrokeratolysis hiemalis ichthyosis" RELATED [GARD:0008275] -synonym: "keratolytic WINTER erythema" RELATED [OMIM:148370] -synonym: "keratolytic winter erythema" EXACT [MONDO:Lexical, OMIM:148370] -synonym: "KWE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148370] -synonym: "Oudtshoorn disease" EXACT [Orphanet:50943] +synonym: "keratolytic WINTER erythema" RELATED [] +synonym: "keratolytic winter erythema" EXACT [icd11.foundation:1491245207, MONDO:Lexical, OMIM:148370, Orphanet:50943] +synonym: "KWE" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Oudtshoorn disease" EXACT [icd11.foundation:1491245207, Orphanet:50943] synonym: "Oudtshoorn skin" RELATED [GARD:0008275] -synonym: "Oudtshoorn skin disease" RELATED [OMIM:148370] +synonym: "Oudtshoorn skin disease" RELATED [] xref: GARD:8275 {source="MONDO:GARD"} xref: icd11.foundation:1491245207 {source="MONDO:equivalentTo"} xref: ICD9:695.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -160731,20 +160750,20 @@ subset: ordo_disorder {source="Orphanet:2198"} subset: orphanet_rare {source="Orphanet:2198"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bennion-Patterson syndrome" EXACT [Orphanet:2198] +synonym: "Bennion-Patterson syndrome" EXACT [DOID:0111506, Orphanet:2198] synonym: "howel-Evans syndrome" RELATED [GARD:0003102] -synonym: "Howell-Evans syndrome" EXACT [Orphanet:2198] -synonym: "keratosis palmaris Et plantaris with esophageal cancer" RELATED [OMIM:148500] +synonym: "Howell-Evans syndrome" EXACT [DOID:0111506, Orphanet:2198] +synonym: "keratosis palmaris Et plantaris with esophageal cancer" RELATED [] synonym: "keratosis palmaris et plantaris with esophageal cancer" RELATED [GARD:0003102] synonym: "keratosis palmoplantaris with esophageal cancer" RELATED [GARD:0003102] -synonym: "keratosis palmoplantaris-esophageal carcinoma syndrome" EXACT [Orphanet:2198] -synonym: "palmoplantar hyperkeratosis-esophageal carcinoma syndrome" EXACT [GARD:0003102, Orphanet:2198] -synonym: "palmoplantar keratoderma with esophageal cancer" RELATED [OMIM:148500] -synonym: "palmoplantar keratoderma-esophageal carcinoma syndrome" EXACT CLINGEN_LABEL [GARD:0003102] -synonym: "Toc" RELATED [GARD:0003102, MONDO:Lexical, OMIM:148500] +synonym: "keratosis palmoplantaris-esophageal carcinoma syndrome" EXACT [DOID:0111506, Orphanet:2198] +synonym: "palmoplantar hyperkeratosis-esophageal carcinoma syndrome" EXACT [DOID:0111506, GARD:0003102, Orphanet:2198] +synonym: "palmoplantar keratoderma with esophageal cancer" RELATED [] +synonym: "palmoplantar keratoderma-esophageal carcinoma syndrome" EXACT CLINGEN_LABEL [DOID:0111506, GARD:0003102, Orphanet:2198] +synonym: "Toc" RELATED [GARD:0003102, MONDO:Lexical] synonym: "tylosis - oesophageal carcinoma" RELATED [GARD:0003102] -synonym: "tylosis with esophageal cancer" RELATED [MONDO:Lexical, OMIM:148500] -synonym: "tylosis-oesophageal carcinoma syndrome" EXACT [GARD:0003102, Orphanet:2198] +synonym: "tylosis with esophageal cancer" RELATED [MONDO:Lexical] +synonym: "tylosis-oesophageal carcinoma syndrome" EXACT [DOID:0111506, GARD:0003102, Orphanet:2198] xref: DOID:0111506 {source="MONDO:equivalentTo"} xref: GARD:3102 {source="MONDO:GARD"} xref: MEDGEN:324338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -160770,7 +160789,7 @@ subset: ordo_disorder {source="Orphanet:86919"} subset: orphanet_rare {source="Orphanet:86919"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "keratosis palmaris ET plantaris with clinodactyly" RELATED [OMIM:148520] +synonym: "keratosis palmaris ET plantaris with clinodactyly" RELATED [] synonym: "palmoplantar keratoderma-clinodactyly syndrome" EXACT [Orphanet:86919] xref: GARD:16766 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:86919/attributed", source="Orphanet:86919/ntbt", source="Orphanet:86919"} @@ -160789,16 +160808,16 @@ subset: gard_rare {source="GARD:15081", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AAGAB punctate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "keratoderma, palmoplantar, punctate type IA" EXACT [OMIM:148600, OMIM:genemap2] -synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" RELATED [OMIM:148600] -synonym: "keratosis palmoplantaris papulosa" RELATED [OMIM:148600] -synonym: "Kppp1" RELATED [OMIM:148600] -synonym: "palmoplantar keratoderma, punctate type 1" RELATED [OMIM:148600] -synonym: "palmoplantar keratoderma, punctate type 1A" EXACT CLINGEN_LABEL [] -synonym: "palmoplantar keratoderma, punctate type IA" RELATED [MONDO:Lexical, OMIM:148600] -synonym: "PPKP1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148600] +synonym: "keratoderma, palmoplantar, punctate type IA" EXACT [] +synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" RELATED [] +synonym: "keratosis palmoplantaris papulosa" RELATED [] +synonym: "Kppp1" RELATED [] +synonym: "palmoplantar keratoderma, punctate type 1" RELATED [] +synonym: "palmoplantar keratoderma, punctate type 1A" EXACT CLINGEN_LABEL [OMIM:148600] +synonym: "palmoplantar keratoderma, punctate type IA" RELATED [MONDO:Lexical] +synonym: "PPKP1A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "punctate palmoplantar keratoderma caused by mutation in AAGAB" EXACT [MONDO:design_pattern] -synonym: "punctate palmoplantar keratoderma type 1A" RELATED [DOID:0080214] +synonym: "punctate palmoplantar keratoderma type 1A" RELATED [] xref: DOID:0080214 {source="MONDO:equivalentTo"} xref: GARD:15081 {source="MONDO:GARD"} xref: OMIM:148600 {source="MONDO:equivalentTo", source="DOID:0080214"} @@ -160818,14 +160837,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "keratoderma, palmoplantar striate form 1" RELATED [GARD:0009172] -synonym: "keratoderma, palmoplantar, striate form 1" RELATED [OMIM:148700] -synonym: "keratosis palmoplantaris striata 1" RELATED [OMIM:148700] -synonym: "keratosis palmoplantaris striata i, AD" EXACT [OMIM:148700, OMIM:genemap2] -synonym: "palmoplantar keratoderma I, striate, focal, or diffuse" RELATED [OMIM:148700] +synonym: "keratoderma, palmoplantar, striate form 1" RELATED [] +synonym: "keratosis palmoplantaris striata 1" RELATED [] +synonym: "keratosis palmoplantaris striata i, AD" EXACT [] +synonym: "palmoplantar keratoderma I, striate, focal, or diffuse" RELATED [] synonym: "palmoplantar keratoderma i, striate, focal, or diffuse" EXACT [MONDO:Lexical, OMIM:148700] -synonym: "PPKS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:148700] +synonym: "PPKS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SPPK1" RELATED ABBREVIATION [GARD:0009172] -synonym: "striate palmoplantar keratoderma 1" RELATED [OMIM:148700] +synonym: "striate palmoplantar keratoderma 1" RELATED [] xref: DOID:0081108 {source="MONDO:equivalentTo"} xref: GARD:9172 {source="MONDO:GARD"} xref: MEDGEN:419717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -160852,10 +160871,10 @@ subset: orphanet_rare {source="Orphanet:2200"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "focal palmoplantar and gingival hyperkeratosis" EXACT [Orphanet:2200] -synonym: "focal palmoplantar and gingival hyperkeratosis syndrome" RELATED [OMIM:148730] +synonym: "focal palmoplantar and gingival hyperkeratosis syndrome" RELATED [] synonym: "focal palmoplantar and oral mucosa hyperkeratosis" RELATED [GARD:0003098] synonym: "keratosis focal palmoplantar gingival" RELATED [GARD:0003098] -synonym: "keratosis, focal palmoplantar and gingival" RELATED [OMIM:148730] +synonym: "keratosis, focal palmoplantar and gingival" RELATED [] xref: DOID:0070553 {source="MONDO:equivalentTo"} xref: GARD:3098 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:2200/attributed", source="Orphanet:2200/ntbt", source="Orphanet:2200"} @@ -160877,11 +160896,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_morphological_anomaly {source="Orphanet:2343"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cloverleaf skull" RELATED [OMIM:148800] +synonym: "cloverleaf skull" RELATED [] synonym: "cloverleaf skull syndrome" RELATED [GARD:0003115, MESH:C536884] synonym: "isolated cloverleaf skull syndrome" EXACT [GARD:0003115] -synonym: "Kleeblattschadel" RELATED [OMIM:148800] -synonym: "KLEEBLATTSCHAEDEL" RELATED ABBREVIATION [OMIM:148800] +synonym: "Kleeblattschadel" RELATED [] +synonym: "KLEEBLATTSCHAEDEL" RELATED ABBREVIATION [] synonym: "Kleeblattschaedel deformity syndrome" RELATED [GARD:0003115] synonym: "Kleeblattschaedel syndrome" RELATED [GARD:0003115] synonym: "Kleeblattschaedel-deformity syndrome" RELATED [MESH:C536884] @@ -160907,11 +160926,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:896"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Klein-Waardenburg syndrome" EXACT [DOID:0110949, Orphanet:896] +synonym: "Klein-Waardenburg syndrome" EXACT [DOID:0110949, OMIM:148820, Orphanet:896] synonym: "Waardenburg syndrome type III" EXACT [DOID:0110949, Orphanet:896] synonym: "Waardenburg syndrome with limb anomalies" EXACT [Orphanet:896] synonym: "Waardenburg syndrome with upper limb anomalies" EXACT [DOID:0110949, OMIM:148820] -synonym: "Waardenburg syndrome, type 3" RELATED [MONDO:Lexical, OMIM:148820] +synonym: "Waardenburg syndrome, type 3" RELATED [MONDO:Lexical] synonym: "White forelock (poliosis) syndrome with multiple congenital malformations" RELATED [GARD:0005523] synonym: "WS3" EXACT ABBREVIATION [DOID:0110949, MONDO:Lexical, OMIM:148820, Orphanet:896] xref: DOID:0110949 {source="MONDO:equivalentTo"} @@ -160941,8 +160960,8 @@ subset: rare synonym: "familial hibernation syndrome" RELATED [GARD:0003117] synonym: "familial Kleine-Levin syndrome" RELATED [GARD:0003117] synonym: "Kleine Levin syndrome" RELATED [GARD:0003117] -synonym: "Kleine-LEVIN hibernation syndrome" RELATED [OMIM:148840] -synonym: "Kleine-Levin syndrome" EXACT [OMIM:148840] +synonym: "Kleine-LEVIN hibernation syndrome" RELATED [] +synonym: "Kleine-Levin syndrome" EXACT [DOID:0060165, icd11.foundation:1180849398, NCIT:C84800, OMIM:148840, Orphanet:33543] xref: DOID:0060165 {source="MONDO:equivalentTo"} xref: EFO:1001354 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:3117 {source="MONDO:GARD"} @@ -160975,16 +160994,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "angio-osteohypertrophy syndrome" RELATED [GARD:0003122] synonym: "angioosteohypertrophy syndrome" EXACT [DOID:2926, OMIM:149000] -synonym: "haemangiectatic hypertrophy" EXACT [DOID:2926] +synonym: "haemangiectatic hypertrophy" EXACT [DOID:2926, icd11.foundation:1561120378] synonym: "Klippel Trenaunay syndrome" EXACT [GARD:0003122] -synonym: "Klippel-Trenaunay Syndrome" EXACT [NORD:1337] -synonym: "Klippel-Trenaunay syndrome" EXACT [MONDO:0019566, OMIM:149000] -synonym: "Klippel-Trenaunay-Weber syndrome" EXACT [DOID:2926, OMIM:149000, Orphanet:2346] -synonym: "Klippel-Trenaunay-Weber syndrome, Isolated cases" EXACT [OMIM:149000, OMIM:genemap2] +synonym: "Klippel-Trenaunay Syndrome" EXACT [DOID:2926, NORD:1337, OMIM:149000] +synonym: "Klippel-Trenaunay syndrome" EXACT [DOID:2926, MONDO:0019566, OMIM:149000] +synonym: "Klippel-Trenaunay-Weber syndrome" EXACT [DOID:2926, NCIT:C84801, OMIM:149000] +synonym: "Klippel-Trenaunay-Weber syndrome, Isolated cases" EXACT [] synonym: "Klippel-Trénaunay syndrome" EXACT [Orphanet:90308] -synonym: "Klippel-Trénaunay-Weber syndrome" EXACT [] +synonym: "Klippel-Trénaunay-Weber syndrome" EXACT [Orphanet:2346] synonym: "KTS" RELATED ABBREVIATION [GARD:0003122] -synonym: "Ktw syndrome" RELATED [OMIM:149000] +synonym: "Ktw syndrome" RELATED [] synonym: "Weber-Klippel-Trenaunay" EXACT [GARD:0003122] xref: DOID:2926 {source="EFO:0007334", source="MONDO:equivalentTo"} xref: GARD:3122 {source="MONDO:GARD"} @@ -161021,7 +161040,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3122/klippel [Term] id: MONDO:0007865 name: knuckle pads -synonym: "knuckle pads" EXACT [OMIM:149100] +synonym: "knuckle pads" EXACT [ICD10CM:M72.1, icd11.foundation:1824875472, OMIM:149100] xref: ICD10CM:M72.1 {source="MONDO:equivalentTo"} xref: icd11.foundation:1824875472 {source="MONDO:equivalentTo"} xref: ICD9:728.79 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -161040,10 +161059,10 @@ subset: ordo_disorder {source="Orphanet:2698"} subset: orphanet_rare {source="Orphanet:2698"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bart-Pumphrey syndrome" EXACT [OMIM:149200, Orphanet:2698] +synonym: "Bart-Pumphrey syndrome" EXACT [DOID:0050658, OMIM:149200, Orphanet:2698] synonym: "knuckle pads, leuconychia and sensorineural deafness" RELATED [GARD:0003125] synonym: "knuckle pads, leukonychia, and sensorineural deafness" EXACT [DOID:0050658, OMIM:149200] -synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" RELATED [Orphanet:2698] +synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome" RELATED [] synonym: "knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome" EXACT [Orphanet:2698] xref: DOID:0050658 {source="MONDO:equivalentTo"} xref: GARD:3125 {source="MONDO:GARD"} @@ -161066,12 +161085,12 @@ subset: rare synonym: "congenital koilonychia" RELATED [GARD:0009760] synonym: "familial koilonychia" RELATED [GARD:0009760] synonym: "hereditary koilonychia" RELATED [GARD:0009760] -synonym: "Koilonychia with leukonychia" RELATED [OMIM:149300] -synonym: "Koilonychia, hereditary" RELATED [OMIM:149300] -synonym: "nail disorder, nonsyndromic congenital, 2" RELATED [MONDO:Lexical, OMIM:149300] -synonym: "NDNC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:149300] -synonym: "nonsyndromic congenital nail disorder type 2" EXACT [DOID:0080080, MONDORULE:1] -synonym: "spoon nails" RELATED [OMIM:149300] +synonym: "Koilonychia with leukonychia" RELATED [] +synonym: "Koilonychia, hereditary" RELATED [] +synonym: "nail disorder, nonsyndromic congenital, 2" RELATED [MONDO:Lexical] +synonym: "NDNC2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nonsyndromic congenital nail disorder type 2" EXACT [MONDORULE:1] +synonym: "spoon nails" RELATED [] xref: DOID:0080080 {source="MONDO:equivalentTo"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:75593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -161091,19 +161110,19 @@ def: "A hyperekplexia that has material basis in heterozygous, homozygous, or co subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "exaggerated startle reaction" RELATED [OMIM:149400] +synonym: "exaggerated startle reaction" RELATED [] synonym: "HKPX1" EXACT ABBREVIATION [DOID:0060696, MONDO:Lexical, OMIM:149400] -synonym: "hyperekplexia 1" EXACT [OMIM:149400] -synonym: "hyperekplexia type 1" EXACT [DOID:0060696, MONDORULE:1] -synonym: "hyperekplexia, hereditary 1" RELATED [MONDO:Lexical, OMIM:149400] -synonym: "hyperekplexia, hereditary type 1" EXACT [MONDORULE:1, OMIM:149400] -synonym: "Kok disease" RELATED [OMIM:149400] -synonym: "startle disease, familial" RELATED [OMIM:149400] -synonym: "startle reaction, exaggerated" RELATED [OMIM:149400] -synonym: "Sthe" RELATED [OMIM:149400] -synonym: "Stiff-baby syndrome" RELATED [OMIM:149400] -synonym: "Stiff-Man syndrome, congenital" RELATED [OMIM:149400] -synonym: "Stiff-Person syndrome, congenital" RELATED [OMIM:149400] +synonym: "hyperekplexia 1" EXACT [DOID:0060696, OMIM:149400] +synonym: "hyperekplexia type 1" EXACT [MONDORULE:1] +synonym: "hyperekplexia, hereditary 1" RELATED [MONDO:Lexical] +synonym: "hyperekplexia, hereditary type 1" EXACT [MONDORULE:1] +synonym: "Kok disease" RELATED [] +synonym: "startle disease, familial" RELATED [] +synonym: "startle reaction, exaggerated" RELATED [] +synonym: "Sthe" RELATED [] +synonym: "Stiff-baby syndrome" RELATED [] +synonym: "Stiff-Man syndrome, congenital" RELATED [] +synonym: "Stiff-Person syndrome, congenital" RELATED [] xref: DOID:0060696 {source="MONDO:equivalentTo"} xref: ICD10CM:G25.8 {source="DOID:0060696"} xref: MEDGEN:1647581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -161147,10 +161166,10 @@ subset: ordo_disorder {source="Orphanet:451612"} subset: ordo_morphological_anomaly {source="Orphanet:451612"} subset: orphanet_rare {source="Orphanet:451612"} subset: rare -synonym: "lacrimal duct defect" RELATED [MONDO:Lexical, OMIM:149700] -synonym: "lacrimal puncta, absence of" RELATED [OMIM:149700] -synonym: "LCDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:149700] -synonym: "nasolacrimal duct obstruction" RELATED [OMIM:149700] +synonym: "lacrimal duct defect" RELATED [MONDO:Lexical] +synonym: "lacrimal puncta, absence of" RELATED [] +synonym: "LCDD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nasolacrimal duct obstruction" RELATED [] xref: GARD:17784 {source="MONDO:GARD"} xref: ICD10CM:Q10.5 {source="Orphanet:451612", source="Orphanet:451612/index", source="Orphanet:451612/ntbt"} xref: MEDGEN:332018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -161177,11 +161196,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Lacrimo-auriculo-dento-digital syndrome" EXACT [GARD:0006848] synonym: "Lacrimoauriculodento-digital syndrome" EXACT [GARD:0006848] -synonym: "LACRIMOAURICULODENTODIGITAL syndrome" EXACT [OMIMPS:149730] -synonym: "lacrimoauriculodentodigital syndrome" EXACT [DOID:0050331, MONDO:Lexical, OMIMPS:149730] +synonym: "LACRIMOAURICULODENTODIGITAL syndrome" EXACT [DOID:0081370, OMIMPS:149730, Orphanet:2363] +synonym: "lacrimoauriculodentodigital syndrome" EXACT [DOID:0081370, MONDO:Lexical, OMIMPS:149730, Orphanet:2363] synonym: "Lacrimoauriculoradiodental syndrome" EXACT [Orphanet:2363] synonym: "LADD" RELATED ABBREVIATION [MONDO:Lexical] -synonym: "LADD syndrome" EXACT [Orphanet:2363] +synonym: "LADD syndrome" EXACT [DOID:0081370, Orphanet:2363] synonym: "lard syndrome" EXACT [Orphanet:2363] synonym: "Levy Hollister syndrome" EXACT [GARD:0006848] synonym: "Levy-Hollister syndrome" EXACT [DOID:0050331, Orphanet:2363] @@ -161228,18 +161247,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:502"} subset: orphanet_rare {source="Orphanet:502"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 8Q24.1 deletion syndrome" RELATED [OMIM:150230] -synonym: "deletion 8q24.1" EXACT [Orphanet:502] +synonym: "chromosome 8Q24.1 deletion syndrome" RELATED [] +synonym: "deletion 8q24.1" EXACT [] synonym: "Giedion-Langer syndrome" RELATED [GARD:0007801] synonym: "Langer Giedion syndrome" RELATED [GARD:0007801] -synonym: "Langer-Giedion syndrome" EXACT [DOID:4998, OMIM:150230] -synonym: "monosomy 8q24.1" EXACT [Orphanet:502] +synonym: "Langer-Giedion syndrome" EXACT [DOID:4998, icd11.foundation:315453775, NCIT:C75118, OMIM:150230, Orphanet:502] +synonym: "monosomy 8q24.1" EXACT [icd11.foundation:315453775] synonym: "trichorhinophalangeal dysplasia type II" EXACT [DOID:4998] -synonym: "trichorhinophalangeal syndrome type 2" EXACT [Orphanet:502] -synonym: "trichorhinophalangeal syndrome, type 2" RELATED [OMIM:150230] -synonym: "trichorhinophalangeal syndrome, type II" RELATED [MONDO:Lexical, OMIM:150230] +synonym: "trichorhinophalangeal syndrome type 2" EXACT [DOID:4998, icd11.foundation:315453775, Orphanet:502] +synonym: "trichorhinophalangeal syndrome, type 2" RELATED [] +synonym: "trichorhinophalangeal syndrome, type II" RELATED [MONDO:Lexical] synonym: "TRPS 2" RELATED [GARD:0007801] -synonym: "TRPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150230] +synonym: "TRPS2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:4998 {source="MONDO:equivalentTo"} xref: GARD:7801 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:502", source="Orphanet:502/attributed", source="Orphanet:502/ntbt"} @@ -161283,8 +161302,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant Larsen syndrome" RELATED [GARD:0006860] synonym: "dominant Larsen syndrome" EXACT [DOID:14764] -synonym: "Larsen syndrome" EXACT [MONDO:Lexical, OMIM:150250] -synonym: "LRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150250] +synonym: "Larsen syndrome" EXACT [DOID:14764, icd11.foundation:607849551, MONDO:Lexical, OMIM:150250, Orphanet:503] +synonym: "LRS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:14764 {source="MONDO:equivalentTo"} xref: GARD:6860 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:503/inclusion", source="Orphanet:503/ntbt", source="Orphanet:503"} @@ -161317,12 +161336,12 @@ subset: ordo_disorder {source="Orphanet:2808"} subset: ordo_malformation_syndrome {source="Orphanet:2808"} subset: orphanet_rare {source="Orphanet:2808"} subset: rare -synonym: "familial vocal cord dysfunction" EXACT [Orphanet:2808] -synonym: "Gerhardt syndrome" EXACT [OMIM:150260, Orphanet:2808] -synonym: "Labd" RELATED [OMIM:150260] -synonym: "laryngeal abductor paralysis" EXACT [OMIM:150260] +synonym: "familial vocal cord dysfunction" EXACT [icd11.foundation:965049946, Orphanet:2808] +synonym: "Gerhardt syndrome" EXACT [icd11.foundation:965049946, OMIM:150260, Orphanet:2808] +synonym: "Labd" RELATED [] +synonym: "laryngeal abductor paralysis" EXACT [icd11.foundation:965049946, OMIM:150260, Orphanet:2808] synonym: "vocal cord dysfunction familial" RELATED [GARD:0005509] -synonym: "vocal cord dysfunction, familial" RELATED [OMIM:150260] +synonym: "vocal cord dysfunction, familial" RELATED [] xref: GARD:5509 {source="MONDO:GARD"} xref: ICD10CM:J38.0 {source="Orphanet:2808", source="Orphanet:2808/attributed", source="Orphanet:2808/ntbt"} xref: icd11.foundation:965049946 {source="MONDO:equivalentTo"} @@ -161341,7 +161360,7 @@ id: MONDO:0007877 name: laryngeal adductor paralysis synonym: "LAP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:150270] synonym: "laryngeal adductor paralysis" EXACT [MONDO:Lexical, OMIM:150270] -synonym: "vocal cord dysfunction, adductor type" RELATED [OMIM:150270] +synonym: "vocal cord dysfunction, adductor type" RELATED [] xref: MEDGEN:140759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562861 {source="MONDO:equivalentTo"} xref: OMIM:150270 {source="MONDO:equivalentTo"} @@ -161360,7 +161379,7 @@ subset: orphanet_rare {source="Orphanet:2373"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital laryngeal stridor" RELATED [GARD:0006865] -synonym: "laryngomalacia" RELATED [OMIM:150280] +synonym: "laryngomalacia" RELATED [] synonym: "laryngomalacia congenital" RELATED [GARD:0006865] xref: DOID:0080833 {source="MONDO:equivalentTo"} xref: GARD:6865 {source="MONDO:GARD"} @@ -161392,7 +161411,7 @@ synonym: "congenital atresia of larynx" EXACT [NCIT:C98972] synonym: "congenital atresia of the larynx" EXACT [NCIT:C98972] synonym: "congenital partial atresia of the larynx" RELATED [GARD:0003192] synonym: "laryngeal atresia" EXACT [NCIT:C98972] -synonym: "larynx, congenital partial atresia OF" RELATED [OMIM:150300] +synonym: "larynx, congenital partial atresia OF" RELATED [] xref: GARD:3194 {source="MONDO:GARD"} xref: ICD10CM:Q31.8 {source="Orphanet:1202/ntbt", source="Orphanet:1202/inclusion", source="Orphanet:1202"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -161419,13 +161438,13 @@ subset: orphanet_rare {source="Orphanet:2374"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "gay Feinmesser Cohen syndrome" RELATED [GARD:0002446] -synonym: "glottic web, congenital anterior" RELATED [OMIM:150360] +synonym: "glottic web, congenital anterior" RELATED [] synonym: "Laryngeal web" EXACT [NCIT:C98970] synonym: "laryngeal web, congenital heart disease and low stature" RELATED [GARD:0002446, MESH:C537676] -synonym: "laryngeal web, familial" RELATED [OMIM:150360] -synonym: "subglottic Bar" RELATED [OMIM:150360] +synonym: "laryngeal web, familial" RELATED [] +synonym: "subglottic Bar" RELATED [] synonym: "subglottic bar, congenital heart disease and low stature" RELATED [GARD:0002446, MESH:C537676] -synonym: "subglottic web" RELATED [OMIM:150360] +synonym: "subglottic web" RELATED [] xref: GARD:16596 {source="MONDO:GARD"} xref: ICD10CM:Q31.0 {source="Orphanet:2374", source="Orphanet:2374/e", source="Orphanet:2374/specific"} xref: icd11.foundation:1641764672 {source="MONDO:equivalentTo"} @@ -161452,14 +161471,14 @@ def: "Any tooth agenesis in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:18245", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "lateral incisors, absence of" RELATED [OMIM:150400] -synonym: "lateral incisors, pegged or missing" RELATED [OMIM:150400] -synonym: "STHAG4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150400] -synonym: "succedaneous teeth, agenesis of" RELATED [OMIM:150400] +synonym: "lateral incisors, absence of" RELATED [] +synonym: "lateral incisors, pegged or missing" RELATED [] +synonym: "STHAG4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "succedaneous teeth, agenesis of" RELATED [] synonym: "tooth agenesis caused by mutation in WNT10A" EXACT [MONDO:design_pattern] synonym: "tooth agenesis, selective, 4" EXACT [MONDO:Lexical, OMIM:150400] -synonym: "tooth agenesis, selective, 4, with or without ectodermal dysplasia" RELATED [OMIM:150400] -synonym: "tooth agenesis, selective, type 4" EXACT [MONDORULE:1, OMIM:150400] +synonym: "tooth agenesis, selective, 4, with or without ectodermal dysplasia" RELATED [] +synonym: "tooth agenesis, selective, type 4" EXACT [MONDORULE:1] synonym: "WNT10A tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18245 {source="MONDO:GARD"} xref: MEDGEN:372057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -161531,17 +161550,17 @@ synonym: "coxa plana" EXACT [DOID:14415] synonym: "juvenile osteochond-hip/pelvis" EXACT [DOID:14415] synonym: "juvenile osteochondrosis of hip and pelvis" EXACT [DOID:14415] synonym: "juvenile osteochondrosis of hip and/or pelvis" EXACT [DOID:14415] -synonym: "Lcp" RELATED [OMIM:150600] -synonym: "LCPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150600] +synonym: "Lcp" RELATED [] +synonym: "LCPD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Legg Calvé Perthes Disease" EXACT [NORD:1353] -synonym: "Legg-CALVE-Perthes disease" EXACT [OMIM:150600] -synonym: "Legg-Calve-Perthes disease" EXACT [MONDO:Lexical, OMIM:150600] -synonym: "Legg-Calve-Perthes symptom" EXACT [DOID:14415] +synonym: "Legg-CALVE-Perthes disease" EXACT [DOID:14415, NCIT:C34766, OMIM:150600] +synonym: "Legg-Calve-Perthes disease" EXACT [DOID:14415, MONDO:Lexical, NCIT:C34766, OMIM:150600] +synonym: "Legg-Calve-Perthes symptom" EXACT [] synonym: "Legg-Calve-Perthes syndrome" EXACT [GARD:0006874] synonym: "Legg-Calvé-Perthes disease" EXACT [Orphanet:2380] synonym: "Legg-Perthes disease" EXACT [OMIM:150600] synonym: "osteochondritis deformans" RELATED [GARD:0006874] -synonym: "osteochondritis of the capital femoral epiphysis" EXACT [Orphanet:2380] +synonym: "osteochondritis of the capital femoral epiphysis" EXACT [] synonym: "osteochondrosis of Legg-Calve-Perthes" EXACT [DOID:14415] synonym: "Osteochondrosis of the capital femoral epiphysis" EXACT [Orphanet:2380] synonym: "Perthe's disease" EXACT [DOID:14415, SCTID:270545000] @@ -161611,17 +161630,17 @@ synonym: "leiomyoma of the uterine body" EXACT [NCIT:C3434] synonym: "leiomyoma of the uterine corpus" EXACT [NCIT:C3434] synonym: "leiomyoma of uterine body" EXACT [NCIT:C3434] synonym: "leiomyoma of uterine corpus" EXACT [NCIT:C3434] -synonym: "leiomyoma, uterine" RELATED [MONDO:Lexical, OMIM:150699] +synonym: "leiomyoma, uterine" RELATED [MONDO:Lexical] synonym: "plexiform leiomyoma" EXACT [DOID:13223] -synonym: "UL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:150699] +synonym: "UL" RELATED ABBREVIATION [MONDO:Lexical] synonym: "uterine body fibroid" EXACT [NCIT:C3434] synonym: "uterine body leiomyoma" EXACT [NCIT:C3434] synonym: "uterine corpus fibroid" EXACT [NCIT:C3434] synonym: "uterine corpus leiomyoma" EXACT [NCIT:C3434] synonym: "uterine corpus leiomyomata" EXACT [NCIT:C3434] -synonym: "uterine fibroid" EXACT [NCIT:C3434] -synonym: "uterine leiomyoma" RELATED [DOID:13223, ICD9CM:218] -synonym: "uterus fibroma" RELATED [DOID:13223, MTH:769] +synonym: "uterine fibroid" EXACT [DOID:13223, NCIT:C3434] +synonym: "uterine leiomyoma" RELATED [ICD9CM:218] +synonym: "uterus fibroma" RELATED [MTH:769] xref: DOID:13223 {source="MONDO:equivalentTo", source="EFO:0000731"} xref: EFO:0000731 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0000131 {source="MONDO:otherHierarchy", source="DOID:13223"} @@ -161665,7 +161684,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "esophagogastric and vulvar leiomyomatosis" RELATED [GARD:0010097] synonym: "leiomyoma of vulva and esophagus" EXACT [OMIM:150700] -synonym: "leiomyomatosis, esophagogastric and vulvar" RELATED [OMIM:150700] +synonym: "leiomyomatosis, esophagogastric and vulvar" RELATED [] xref: GARD:10097 {source="MONDO:GARD"} xref: MEDGEN:320616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537006 {source="MONDO:equivalentTo"} @@ -161688,28 +161707,28 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial leiomyomatosis" EXACT [MONDO:0023616] synonym: "familial leiomyomatosis and renal cell cancer" EXACT [Orphanet:523] -synonym: "familial leiomyomatosis cutis et uteri" EXACT [Orphanet:523] +synonym: "familial leiomyomatosis cutis et uteri" EXACT [icd11.foundation:754002573, Orphanet:523] synonym: "familial leiomyomatosis with renal carcinoma" EXACT [Orphanet:523] synonym: "familial multiple cutaneous leiomyomas" EXACT [Orphanet:523] synonym: "hereditary leiomyomatosis" EXACT [MONDO:patterns/hereditary, Orphanet:523] -synonym: "hereditary leiomyomatosis and renal cell cancer" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:150800] -synonym: "hereditary leiomyomatosis and renal cell cancer syndrome" EXACT [NCIT:C51302] -synonym: "Hereditary Leiomyomatosis and Renal Cell Carcinoma" EXACT [NORD:1231] +synonym: "hereditary leiomyomatosis and renal cell cancer" EXACT CLINGEN_LABEL [icd11.foundation:754002573, MONDO:Lexical, NCIT:C51302, OMIM:150800, Orphanet:523] +synonym: "hereditary leiomyomatosis and renal cell cancer syndrome" EXACT [] +synonym: "Hereditary Leiomyomatosis and Renal Cell Carcinoma" EXACT [NCIT:C51302, NORD:1231] synonym: "hereditary leiomyomatosis and renal cell carcinoma" EXACT [NCIT:C51302] synonym: "hereditary leiomyomatosis with renal carcinoma" EXACT [Orphanet:523] -synonym: "hereditary multiple cutaneous leiomyomas" EXACT [Orphanet:523] -synonym: "HLRCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:150800, Orphanet:523] -synonym: "leiomyoma, multiple cutaneous" RELATED [OMIM:150800] -synonym: "leiomyomatosis and renal cell cancer" EXACT [OMIM:150800, OMIM:genemap2] -synonym: "leiomyomatosis and renal cell cancer, hereditary" RELATED [OMIM:150800] +synonym: "hereditary multiple cutaneous leiomyomas" EXACT [icd11.foundation:754002573, Orphanet:523] +synonym: "HLRCC" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C51302, OMIM:150800, Orphanet:523] +synonym: "leiomyoma, multiple cutaneous" RELATED [] +synonym: "leiomyomatosis and renal cell cancer" EXACT [] +synonym: "leiomyomatosis and renal cell cancer, hereditary" RELATED [] synonym: "leiomyomatosis familial" RELATED [GARD:0003218] synonym: "LRCC" RELATED ABBREVIATION [GARD:0010096] synonym: "MCUL" EXACT ABBREVIATION [Orphanet:523] synonym: "multiple cutaneous and uterine leiomyomas" EXACT [Orphanet:523] synonym: "multiple cutaneous and uterine leiomyomata" RELATED [GARD:0010096] -synonym: "multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma" RELATED [OMIM:150800] +synonym: "multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma" RELATED [] synonym: "multiple cutaneous leiomyomata" RELATED [GARD:0010096] -synonym: "Reed syndrome" EXACT [Orphanet:523] +synonym: "Reed syndrome" EXACT [icd11.foundation:754002573, Orphanet:523] synonym: "Reed's syndrome" RELATED [GARD:0010096] xref: GARD:10096 {source="MONDO:GARD"} xref: ICD10CM:C64 {source="Orphanet:523/attributed", source="Orphanet:523/ntbt", source="Orphanet:523"} @@ -161742,7 +161761,7 @@ replaced_by: MONDO:0021582 id: MONDO:0007890 name: lentiginosis, centrofacial neurodysraphic synonym: "lentiginosis, centrofacial neurodysraphic" EXACT [OMIM:151000] -synonym: "lentiginosis, Touraine type" RELATED [OMIM:151000] +synonym: "lentiginosis, Touraine type" RELATED [] xref: MEDGEN:372055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563630 {source="MONDO:equivalentTo"} xref: OMIM:151000 {source="MONDO:equivalentTo"} @@ -161761,11 +161780,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial lentigines profusa" EXACT [Orphanet:231040] synonym: "familial multiple lentigines syndrome without systemic involvement" EXACT [Orphanet:231040] -synonym: "lentiginosis profusa" RELATED [OMIM:151001] -synonym: "lentiginosis, diffuse" RELATED [OMIM:151001] +synonym: "lentiginosis profusa" RELATED [] +synonym: "lentiginosis, diffuse" RELATED [] synonym: "lentiginosis, generalised" RELATED OMO:0003005 [] -synonym: "lentiginosis, generalized" RELATED [OMIM:151001] -synonym: "lentiginosis, inherited patterned" RELATED [OMIM:151001] +synonym: "lentiginosis, generalized" RELATED [] +synonym: "lentiginosis, inherited patterned" RELATED [] xref: GARD:17158 {source="MONDO:GARD"} xref: ICD10CM:L81.4 {source="Orphanet:231040/attributed", source="Orphanet:231040/ntbt", source="Orphanet:231040"} xref: MEDGEN:486897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -161789,10 +161808,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hyperostotic dwarfism Lenz-Majewski type" RELATED [GARD:0003223] synonym: "Lenz Majewski hyperostotic dwarfism" RELATED [GARD:0003223] -synonym: "Lenz-Majewski hyperostotic dwarfism" EXACT [MONDO:Lexical, OMIM:151050] +synonym: "Lenz-Majewski hyperostotic dwarfism" EXACT [DOID:0111507, icd11.foundation:1509425242, MONDO:Lexical, OMIM:151050, Orphanet:2658] synonym: "Lenz-Majewski hyperostotic dysplasia" RELATED [GARD:0003223] -synonym: "Lenz-Majewski syndrome" RELATED [OMIM:151050] -synonym: "LMHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151050] +synonym: "Lenz-Majewski syndrome" RELATED [] +synonym: "LMHD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis" RELATED [GARD:0003223] synonym: "multiple congenital anomalies, mental retardation and progressive skeletal sclerosis" RELATED DEPRECATED [GARD:0003223] xref: DOID:0111507 {source="MONDO:equivalentTo"} @@ -161830,18 +161849,18 @@ subset: orphanet_rare {source="Orphanet:500"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome" EXACT [DOID:14291] -synonym: "cardiocutaneous syndrome" RELATED EXCLUDE [DOID:14291] +synonym: "cardiocutaneous syndrome" RELATED EXCLUDE [] synonym: "Cardiomyopathic lentiginosis" EXACT [Orphanet:500] synonym: "familial multiple lentigines syndrome" EXACT [Orphanet:500] synonym: "generalised lentiginosis" EXACT OMO:0003005 [] synonym: "generalized lentiginosis" EXACT [DOID:14291] synonym: "Gorlin syndrome II" EXACT [DOID:14291] synonym: "lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes" RELATED [GARD:0001100] -synonym: "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness" EXACT [NCIT:C84820] +synonym: "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness" EXACT [] synonym: "lentiginosis profusa syndrome" EXACT [DOID:14291] -synonym: "LEOPARD syndrome" EXACT [DOID:14291, MONDO:0001937, Orphanet:500] -synonym: "Moynahan syndrome" RELATED [DOID:14291] -synonym: "Noonan syndrome with multiple lentigines" EXACT CLINGEN_LABEL [] +synonym: "LEOPARD syndrome" EXACT [DOID:14291, MONDO:0001937, NCIT:C84820, OMIMPS:151100, Orphanet:500] +synonym: "Moynahan syndrome" RELATED [] +synonym: "Noonan syndrome with multiple lentigines" EXACT CLINGEN_LABEL [DOID:14291, Orphanet:500] synonym: "progressive cardiomyopathic lentiginosis" EXACT [DOID:14291] xref: DOID:14291 {source="MONDO:equivalentTo"} xref: GARD:1100 {source="MONDO:GARD"} @@ -161877,9 +161896,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2900"} subset: orphanet_rare {source="Orphanet:2900"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 8q22.1 DUPLICATION syndrome" RELATED [OMIM:151200] -synonym: "Leri pleonosteosis" EXACT [OMIM:151200] -synonym: "leri pleonosteosis chromosome duplication syndrome" EXACT [OMIM:151200, OMIM:genemap2] +synonym: "chromosome 8q22.1 DUPLICATION syndrome" RELATED [] +synonym: "Leri pleonosteosis" EXACT [OMIM:151200, Orphanet:2900] +synonym: "leri pleonosteosis chromosome duplication syndrome" EXACT [] synonym: "Leri type pleonosteosis" RELATED [GARD:0000088] synonym: "Leri's pleonosteosis" RELATED [GARD:0000088] synonym: "pleonosteosis Leri type" RELATED [GARD:0000088] @@ -161909,18 +161928,18 @@ subset: orphanet_rare {source="Orphanet:85166"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lethal short-limbed Platyspondylic dwarfism Torrance type" RELATED [GARD:0004382] -synonym: "lethal short-limbed Platyspondylic dwarfism, Torrance type" RELATED [OMIM:151210] -synonym: "platyspondylic dysplasia, Torrance type" EXACT CLINGEN_LABEL [] -synonym: "Platyspondylic dysplasia, Torrance-Luton type" EXACT [Orphanet:85166] +synonym: "lethal short-limbed Platyspondylic dwarfism, Torrance type" RELATED [] +synonym: "platyspondylic dysplasia, Torrance type" EXACT CLINGEN_LABEL [icd11.foundation:263213426, Orphanet:85166] +synonym: "Platyspondylic dysplasia, Torrance-Luton type" EXACT [DOID:0111508, Orphanet:85166] synonym: "Platyspondylic lethal skeletal dysplasia Torrance type" RELATED [GARD:0004382] -synonym: "Platyspondylic lethal skeletal dysplasia, Luton type" RELATED [OMIM:151210] -synonym: "Platyspondylic lethal skeletal dysplasia, Torrance type" EXACT [MONDO:Lexical, OMIM:151210, Orphanet:85166] -synonym: "platyspondylic skeletal dysplasia, Torrance type" EXACT [OMIM:151210, OMIM:genemap2] -synonym: "PLSD-T" EXACT [Orphanet:85166] -synonym: "PLSDT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151210] +synonym: "Platyspondylic lethal skeletal dysplasia, Luton type" RELATED [] +synonym: "Platyspondylic lethal skeletal dysplasia, Torrance type" EXACT [DOID:0111508, MONDO:Lexical, OMIM:151210, Orphanet:85166] +synonym: "platyspondylic skeletal dysplasia, Torrance type" EXACT [] +synonym: "PLSD-T" EXACT ABBREVIATION [DOID:0111508, Orphanet:85166] +synonym: "PLSDT" RELATED ABBREVIATION [MONDO:Lexical] synonym: "thanatophoric dysplasia Torrance variant" RELATED [GARD:0004382] -synonym: "thanatophoric dysplasia, Luton variant" RELATED [OMIM:151210] -synonym: "thanatophoric dysplasia, Torrance variant" RELATED [OMIM:151210] +synonym: "thanatophoric dysplasia, Luton variant" RELATED [] +synonym: "thanatophoric dysplasia, Torrance variant" RELATED [] xref: DOID:0111508 {source="MONDO:equivalentTo"} xref: GARD:4382 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:85166", source="Orphanet:85166/attributed", source="Orphanet:85166/ntbt"} @@ -161951,27 +161970,27 @@ subset: rare synonym: "acute monoblastic leukaemia" RELATED OMO:0003005 [] synonym: "acute monoblastic leukaemia and acute monocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute monoblastic leukemia" RELATED [GARD:0000525] -synonym: "acute monoblastic leukemia and acute monocytic leukemia" EXACT [DOID:8864, NCIT:C7318] +synonym: "acute monoblastic leukemia and acute monocytic leukemia" EXACT [DOID:8864] synonym: "acute monoblastic/monocytic leukaemia" RELATED OMO:0003005 [] synonym: "acute monoblastic/monocytic leukemia" RELATED [ONCOTREE:AMOL] synonym: "acute monocytic leukaemia (FAB M5B)" EXACT OMO:0003005 [] synonym: "acute monocytic leukaemia (FAB M5b)" EXACT OMO:0003005 [] -synonym: "acute monocytic leukaemia without mention of remission" EXACT OMO:0003005 [] -synonym: "acute monocytic leukemia" EXACT [GARD:0000525, NCIT:C4861, Orphanet:514] +synonym: "acute monocytic leukaemia without mention of remission" EXACT OMO:0003005 [DOID:8864] +synonym: "acute monocytic leukemia" EXACT [DOID:8864, GARD:0000525, NCIT:C4861] synonym: "acute monocytic leukemia (FAB M5B)" EXACT [NCIT:C4861] synonym: "acute monocytic leukemia (FAB M5b)" EXACT [NCIT:C4861] synonym: "acute monocytic leukemia without mention of remission" EXACT [DOID:8864] synonym: "acute monocytic leukemia, FAB M5" EXACT [DOID:8864] synonym: "acute monocytic leukemia, morphology" EXACT [DOID:8864] -synonym: "acute monocytic leukemia, morphology (morphologic abnormality)" EXACT [DOID:8864] +synonym: "acute monocytic leukemia, morphology (morphologic abnormality)" EXACT [] synonym: "acute myeloblastic leukaemia type 5" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia type 5" RELATED [GARD:0000525] synonym: "AML M5" EXACT [GARD:0000525, Orphanet:514] synonym: "AML-M5" RELATED [GARD:0000525] -synonym: "leukemia, acute monocytic" RELATED [OMIM:151380] +synonym: "leukemia, acute monocytic" RELATED [] synonym: "leukemia, monocytic, malignant" EXACT [NCIT:C4861] synonym: "monocytic leukaemia" BROAD OMO:0003005 [] -synonym: "monocytic leukemia" BROAD [NCIT:C4861] +synonym: "monocytic leukemia" BROAD [] synonym: "monocytic leukemia, acute" EXACT [MONDO:patterns/acute] xref: CSP:2004-2820 {source="DOID:8864"} xref: DOID:8864 {source="EFO:0000221", source="MONDO:equivalentTo"} @@ -162027,9 +162046,9 @@ subset: otar {source="MONDO:OTAR"} synonym: "lichen sclerosis" RELATED [GARD:0006905] synonym: "lichen sclerosis et atrophicus" RELATED [GARD:0006905] synonym: "lichen sclerosus" RELATED [GARD:0006905] -synonym: "lichen SCLEROSUS ET ATROPHICUS" RELATED [OMIM:151590] -synonym: "lichen sclerosus et atrophicus" EXACT [MONDO:Lexical, OMIM:151590, Orphanet:33409] -synonym: "LSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151590] +synonym: "lichen SCLEROSUS ET ATROPHICUS" RELATED [] +synonym: "lichen sclerosus et atrophicus" EXACT [ICD10CM:L90.0, MONDO:Lexical, NCIT:C26817, OMIM:151590] +synonym: "LSA" RELATED ABBREVIATION [MONDO:Lexical] xref: ICD10CM:L90.0 {source="MONDO:equivalentTo"} xref: MEDGEN:7338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D018459 {source="MONDO:equivalentTo"} @@ -162049,17 +162068,17 @@ subset: gard_rare {source="GARD:2555", source="MONDO:GARD"} subset: rare synonym: "Gorlin Bushkell Jensen syndrome" RELATED [GARD:0002555] synonym: "inherited isolated nail anomaly caused by mutation in PLCD1" EXACT [MONDO:design_pattern] -synonym: "leukonychia punctata" RELATED [OMIM:151600] -synonym: "leukonychia Striatus" RELATED [OMIM:151600] -synonym: "leukonychia totalis and/or partialis" RELATED [OMIM:151600] +synonym: "leukonychia punctata" RELATED [] +synonym: "leukonychia Striatus" RELATED [] +synonym: "leukonychia totalis and/or partialis" RELATED [] synonym: "leukonychia totalis multiple sebaceous cysts renal calculi" RELATED [GARD:0002555] -synonym: "nail disorder, nonsyndromic congenital, 3" RELATED [MONDO:Lexical, OMIM:151600] -synonym: "nail disorder, nonsyndromic congenital, 3, (leukonychia)" EXACT [OMIM:151600, OMIM:genemap2] -synonym: "nail disorder, nonsyndromic congenital, type 3" EXACT [MONDORULE:1, OMIM:151600] -synonym: "NDNC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151600] -synonym: "nonsyndromic congenital nail disorder type 3" EXACT [DOID:0080081, MONDORULE:1] +synonym: "nail disorder, nonsyndromic congenital, 3" RELATED [MONDO:Lexical] +synonym: "nail disorder, nonsyndromic congenital, 3, (leukonychia)" EXACT [] +synonym: "nail disorder, nonsyndromic congenital, type 3" EXACT [MONDORULE:1] +synonym: "NDNC3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nonsyndromic congenital nail disorder type 3" EXACT [MONDORULE:1] synonym: "PLCD1 inherited isolated nail anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "porcelain nails" RELATED [OMIM:151600] +synonym: "porcelain nails" RELATED [] xref: DOID:0080081 {source="MONDO:equivalentTo"} xref: GARD:2555 {source="MONDO:GARD"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -162083,7 +162102,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2555/gorlin- id: MONDO:0007901 name: levator-medial rectus synkinesis synonym: "levator-medial rectus synkinesis" EXACT [OMIM:151610] -synonym: "oculomotor-levator synkinesis" RELATED [OMIM:151610] +synonym: "oculomotor-levator synkinesis" RELATED [] xref: MEDGEN:320592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563625 {source="MONDO:equivalentTo"} xref: OMIM:151610 {source="MONDO:equivalentTo"} @@ -162124,7 +162143,7 @@ subset: ordo_disorder {source="Orphanet:2699"} subset: ordo_malformation_syndrome {source="Orphanet:2699"} subset: orphanet_rare {source="Orphanet:2699"} subset: rare -synonym: "LIP, MEDIAN NODULE of upper" RELATED [OMIM:151630] +synonym: "LIP, MEDIAN NODULE of upper" RELATED [] xref: GARD:3440 {source="MONDO:GARD"} xref: ICD10CM:Q18.8 {source="Orphanet:2699", source="Orphanet:2699/attributed", source="Orphanet:2699/ntbt"} xref: MEDGEN:372034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -162139,7 +162158,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3440/median- [Term] id: MONDO:0007905 name: lip, hamartomatous -synonym: "enlargement of Lower lip" RELATED [OMIM:151640] +synonym: "enlargement of Lower lip" RELATED [] synonym: "lip, hamartomatous" EXACT [OMIM:151640] xref: MEDGEN:331965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563621 {source="MONDO:equivalentTo"} @@ -162157,17 +162176,17 @@ subset: ordo_disorder {source="Orphanet:2348"} subset: orphanet_rare {source="Orphanet:2348"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Dunnigan syndrome" EXACT [Orphanet:2348] +synonym: "Dunnigan syndrome" EXACT [icd11.foundation:2068585355, Orphanet:2348] synonym: "familial lipodystrophy of limbs and lower trunk" EXACT [DOID:0070202] synonym: "familial partial lipodystrophy Dunnigan type" EXACT [DOID:0070202] -synonym: "familial partial lipodystrophy type 2" EXACT [Orphanet:2348] -synonym: "FPL2" RELATED ABBREVIATION [OMIM:151660] +synonym: "familial partial lipodystrophy type 2" EXACT [DOID:0070202, icd11.foundation:2068585355, Orphanet:2348] +synonym: "FPL2" RELATED ABBREVIATION [] synonym: "FPLD2" EXACT ABBREVIATION [DOID:0070202, MONDO:Lexical, OMIM:151660, Orphanet:2348] -synonym: "lipoatrophic diabetes" RELATED EXCLUDE [DOID:0070202] -synonym: "lipodystrophy, familial partial, Dunnigan type" RELATED [OMIM:151660] -synonym: "lipodystrophy, familial partial, type 2" RELATED [MONDO:Lexical, OMIM:151660] -synonym: "lipodystrophy, familial, of limbs and Lower trunk" RELATED [OMIM:151660] -synonym: "lipodystrophy, reverse partial" RELATED [OMIM:151660] +synonym: "lipoatrophic diabetes" RELATED EXCLUDE [] +synonym: "lipodystrophy, familial partial, Dunnigan type" RELATED [] +synonym: "lipodystrophy, familial partial, type 2" RELATED [MONDO:Lexical] +synonym: "lipodystrophy, familial, of limbs and Lower trunk" RELATED [] +synonym: "lipodystrophy, reverse partial" RELATED [] synonym: "reverse partial lipodystrophy" EXACT [DOID:0070202] xref: DOID:0070202 {source="MONDO:equivalentTo"} xref: GARD:3126 {source="MONDO:GARD"} @@ -162219,14 +162238,14 @@ synonym: "Launois-Bensaude syndrome" RELATED [GARD:0006957] synonym: "Launois-Bensaude's lipomatosis" EXACT [DOID:14116] synonym: "lipodystrophy, cephalothoracic" EXACT [DOID:14116, OMIM:151800] synonym: "lipomatosis, familial benign cervical" EXACT [DOID:14116, OMIM:151800] -synonym: "lipomatosis, multiple symmetric" RELATED [MONDO:Lexical, OMIM:151800] -synonym: "Madelung disease" BROAD [Orphanet:2398] +synonym: "lipomatosis, multiple symmetric" RELATED [MONDO:Lexical] +synonym: "Madelung disease" BROAD [] synonym: "Madelung's Disease" EXACT [NORD:1392] synonym: "Madelung's disease" RELATED [GARD:0006957] synonym: "Madelung's neck" EXACT [DOID:14116] -synonym: "MSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151800] -synonym: "multiple symmetric lipomatosis" EXACT [DOID:14116] -synonym: "multiple symmetrical lipomatosis" EXACT [MONDO:0002521, NCIT:C4392] +synonym: "MSL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "multiple symmetric lipomatosis" EXACT [DOID:14116, Orphanet:2398] +synonym: "multiple symmetrical lipomatosis" EXACT [DOID:14116, MONDO:0002521, NCIT:C4392] xref: DOID:14116 {source="MONDO:equivalentTo", source="EFO:1000737"} xref: DOID:3137 {source="MONDO:obsolete", source="EFO:1000737"} xref: EFO:1000737 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -162257,9 +162276,9 @@ subset: ordo_disorder {source="Orphanet:199276"} subset: orphanet_rare {source="Orphanet:199276"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lipoma" RELATED [OMIM:151900] -synonym: "lipomatosis, familial multiple" RELATED [OMIM:151900] -synonym: "lipomatosis, multiple" RELATED [OMIM:151900] +synonym: "lipoma" RELATED [] +synonym: "lipomatosis, familial multiple" RELATED [] +synonym: "lipomatosis, multiple" RELATED [] xref: DOID:0070518 {source="MONDO:equivalentTo"} xref: GARD:12925 {source="MONDO:GARD"} xref: ICD10CM:E88.2 {source="Orphanet:199276/attributed", source="Orphanet:199276/ntbt", source="Orphanet:199276"} @@ -162288,7 +162307,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007911 name: lipoprotein, variant of beta -synonym: "Beta-lipoprotein, Double" RELATED [OMIM:152400] +synonym: "Beta-lipoprotein, Double" RELATED [] synonym: "lipoprotein, variant of beta" EXACT [OMIM:152400] xref: MEDGEN:322642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:152400 {source="MONDO:equivalentTo"} @@ -162307,7 +162326,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007913 name: low density lipoprotein, variation in molecular weight of -synonym: "LOW density lipoprotein, variation in molecular weight OF" RELATED [OMIM:152450] +synonym: "LOW density lipoprotein, variation in molecular weight OF" RELATED [] xref: MEDGEN:322635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:152450 {source="MONDO:equivalentTo"} xref: UMLS:C1835321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322635"} @@ -162333,18 +162352,18 @@ subset: ordo_disorder {source="Orphanet:536"} subset: orphanet_rare {source="Orphanet:536"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "disseminated lupus erythematosus" EXACT [DOID:9074] -synonym: "excess LMW-DNA" RELATED [OMIM:152700] -synonym: "excess lymphocyte low molecular weight DNA" RELATED [OMIM:152700] +synonym: "disseminated lupus erythematosus" EXACT [DOID:9074, icd11.foundation:749596428, Orphanet:536] +synonym: "excess LMW-DNA" RELATED [] +synonym: "excess lymphocyte low molecular weight DNA" RELATED [] synonym: "Lupus" EXACT [NORD:1380] synonym: "lupus erythematosus, systemic" EXACT [DOID:9074, MTH:U002054] -synonym: "lupus nephritis, susceptibility to" RELATED [OMIM:152700, OMIM:genemap2] -synonym: "SLE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:152700] +synonym: "lupus nephritis, susceptibility to" RELATED [] +synonym: "SLE" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3201, OMIM:152700, Orphanet:536] synonym: "SLE - lupus erythematosus, systemic" EXACT [DOID:9074, NCIT:C3201] -synonym: "systemic lupus erythematosus" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:152700] +synonym: "systemic lupus erythematosus" EXACT [DOID:9074, icd11.foundation:749596428, MONDO:ambiguous, MONDO:Lexical, NCIT:C3201, OMIM:152700, Orphanet:536] synonym: "systemic lupus erythematosus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "systemic lupus erythematosus susceptibility to" EXACT [OMIM:152700, OMIM:genemap2] -synonym: "systemic lupus erythematosus, susceptibility to" EXACT [OMIM:152700, OMIM:genemap2] +synonym: "systemic lupus erythematosus susceptibility to" EXACT [] +synonym: "systemic lupus erythematosus, susceptibility to" EXACT [] xref: DOID:9074 {source="MONDO:equivalentTo", source="EFO:0002690"} xref: GARD:18695 {source="MONDO:GARD"} xref: HP:0002725 {source="MONDO:otherHierarchy"} @@ -162387,7 +162406,7 @@ subset: orphanet_rare {source="Orphanet:90362"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial Waldmann's disease (type)" RELATED [GARD:0007873] -synonym: "lymphangiectasia, intestinal" RELATED [OMIM:152800] +synonym: "lymphangiectasia, intestinal" RELATED [] synonym: "primary intestinal lymphangiectasis" RELATED [GARD:0007873] synonym: "Waldmann disease" EXACT [Orphanet:90362] synonym: "Waldmann's disease" RELATED [GARD:0007873] @@ -162417,7 +162436,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:86914"} subset: orphanet_rare {source="Orphanet:86914"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lymphedema and cerebral arteriovenous anomaly" RELATED [OMIM:152900] +synonym: "lymphedema and cerebral arteriovenous anomaly" RELATED [] synonym: "primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet" RELATED [GARD:0009217] xref: GARD:9217 {source="MONDO:GARD"} xref: MEDGEN:322617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -162441,23 +162460,23 @@ subset: ordo_malformation_syndrome {source="Orphanet:2526"} subset: orphanet_rare {source="Orphanet:2526"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cdmmr syndrome" RELATED [OMIM:152950] -synonym: "chorioretinal dysplasia-microcephaly-intellectual disability syndrome" EXACT [DOID:0060349] +synonym: "Cdmmr syndrome" RELATED [] +synonym: "chorioretinal dysplasia-microcephaly-intellectual disability syndrome" EXACT [] synonym: "chorioretinal dysplasia-microcephaly-mental retardation syndrome" EXACT DEPRECATED [DOID:0060349] synonym: "lymphedema and retinal folds with ficrocephaly and microphthalmos" EXACT [DOID:0060349] -synonym: "lymphedema and retinal Folds with microcephaly and microphthalmos" RELATED [OMIM:152950] +synonym: "lymphedema and retinal Folds with microcephaly and microphthalmos" RELATED [] synonym: "lymphedema, microcephaly and chorioretinopathy syndrome" EXACT [DOID:0060349, GARD:0003622] -synonym: "lymphedema, microcephaly, chorioretinopathy syndrome" RELATED [OMIM:152950] -synonym: "MCLMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:152950] -synonym: "microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant" RELATED [OMIM:152950] -synonym: "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" RELATED DEPRECATED [OMIM:152950] +synonym: "lymphedema, microcephaly, chorioretinopathy syndrome" RELATED [] +synonym: "MCLMR" RELATED DEPRECATED [MONDO:Lexical] +synonym: "microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant" RELATED [] +synonym: "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" RELATED DEPRECATED [] synonym: "microcephaly lymphedema chorioretinal dysplasia" EXACT [DOID:0060349] -synonym: "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:152950] -synonym: "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:152950] +synonym: "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation" EXACT DEPRECATED [DOID:0060349, MONDO:Lexical, OMIM:152950] synonym: "microcephaly, lymphedema, chorioretinal dysplasia syndrome" EXACT [DOID:0060349, OMIM:152950] -synonym: "microcephaly-lymphedema-chorioretinopathy syndrome" RELATED [Orphanet:2526] +synonym: "microcephaly-lymphedema-chorioretinopathy syndrome" RELATED [] synonym: "MLCRD" EXACT ABBREVIATION [Orphanet:2526] -synonym: "Mlcrd syndrome" RELATED [OMIM:152950] +synonym: "Mlcrd syndrome" RELATED [] xref: DOID:0060349 {source="MONDO:equivalentTo"} xref: GARD:3622 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2526", source="Orphanet:2526/attributed", source="Orphanet:2526/ntbt"} @@ -162487,19 +162506,19 @@ subset: ordo_disorder {source="Orphanet:79452"} subset: orphanet_rare {source="Orphanet:79452"} subset: rare synonym: "congenital hereditary lymphedema" EXACT [GARD:0007220] -synonym: "congenital primary lymphedema" EXACT [Orphanet:79452] +synonym: "congenital primary lymphedema" EXACT [DOID:0070212] synonym: "early onset lymphedema" EXACT [GARD:0007220] synonym: "FLT4 hereditary lymphedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary lymphedema 1" EXACT [GARD:0007220] synonym: "hereditary lymphedema caused by mutation in FLT4" EXACT [MONDO:design_pattern] -synonym: "hereditary lymphedema type I" EXACT [Orphanet:79452] -synonym: "LMPH1A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153100] +synonym: "hereditary lymphedema type I" EXACT [DOID:0070212, Orphanet:79452] +synonym: "LMPH1A" EXACT ABBREVIATION [DOID:0070210, MONDO:Lexical] synonym: "lymphedema, early-onset" EXACT [OMIM:153100] -synonym: "lymphedema, hereditary, 1A" EXACT [MONDO:Lexical, OMIM:153100] -synonym: "lymphedema, hereditary, type 1A" EXACT [MONDORULE:4, OMIM:153100] -synonym: "Milroy disease" EXACT [OMIM:153100] +synonym: "lymphedema, hereditary, 1A" EXACT [MONDO:Lexical] +synonym: "lymphedema, hereditary, type 1A" EXACT [MONDORULE:4] +synonym: "Milroy disease" EXACT [DOID:0070212, OMIM:153100, Orphanet:79452] synonym: "Nonne-Milroy disease" EXACT [GARD:0007220] -synonym: "Nonne-Milroy lymphedema" EXACT [OMIM:153100, Orphanet:79452] +synonym: "Nonne-Milroy lymphedema" EXACT [DOID:0070212, OMIM:153100, Orphanet:79452] synonym: "Nonne-Milroy syndrome" EXACT [GARD:0007220] synonym: "Nonne’s syndrome" EXACT [GARD:0007220] synonym: "primary congenital lymphedema" EXACT [OMIM:153100] @@ -162530,14 +162549,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary lymphedema type II" EXACT [Orphanet:90186] synonym: "late-onset lymphedema" EXACT [DOID:0070213] -synonym: "late-onset primary lymphedema" EXACT [Orphanet:90186] -synonym: "LMPH2" EXACT ABBREVIATION [DOID:0070213, MONDO:Lexical, OMIM:153200] +synonym: "late-onset primary lymphedema" EXACT [] +synonym: "LMPH2" EXACT ABBREVIATION [DOID:0070213, MONDO:Lexical] synonym: "lymphedema hereditary type 2" RELATED [GARD:0003324] -synonym: "lymphedema praecox" RELATED [OMIM:153200] +synonym: "lymphedema praecox" RELATED [] synonym: "lymphedema preacox" EXACT [DOID:0070213] -synonym: "lymphedema, hereditary, II" RELATED [MONDO:Lexical, OMIM:153200] -synonym: "lymphedema, late-onset" RELATED [OMIM:153200] -synonym: "Meige disease" EXACT [DOID:0070213, OMIM:153200] +synonym: "lymphedema, hereditary, II" RELATED [MONDO:Lexical] +synonym: "lymphedema, late-onset" RELATED [] +synonym: "Meige disease" EXACT [DOID:0070213, OMIM:153200, Orphanet:90186] synonym: "Meige lymphedema" EXACT [DOID:0070213, OMIM:153200, Orphanet:90186] xref: DOID:0070213 {source="MONDO:equivalentTo"} xref: GARD:3324 {source="MONDO:GARD"} @@ -162563,11 +162582,11 @@ subset: ordo_disorder {source="Orphanet:662"} subset: orphanet_rare {source="Orphanet:662"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lymphedema and Yellow nails" RELATED [OMIM:153300] +synonym: "lymphedema and Yellow nails" RELATED [] synonym: "lymphedema with yellow nails" EXACT [Orphanet:662] -synonym: "yellow nail syndrome" EXACT [OMIM:153300] -synonym: "YNS" EXACT ABBREVIATION [Orphanet:662] -synonym: "Yns" RELATED [OMIM:153300] +synonym: "yellow nail syndrome" EXACT [DOID:0050468, ICD10CM:L60.5, icd11.foundation:47812081, NCIT:C85238, OMIM:153300, Orphanet:662] +synonym: "YNS" EXACT ABBREVIATION [OMIM:153300, Orphanet:662] +synonym: "Yns" RELATED [] xref: DOID:0050468 {source="MONDO:equivalentTo"} xref: EFO:1001452 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:184 {source="MONDO:GARD"} @@ -162601,9 +162620,9 @@ subset: orphanet_rare {source="Orphanet:33001"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary lymphedema-distichiasis syndrome (subtype)" RELATED [GARD:0000333] -synonym: "lymphedema with distichiasis" RELATED [OMIM:153400] -synonym: "lymphedema-distichiasis syndrome" EXACT CLINGEN_LABEL [OMIM:153400] -synonym: "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" RELATED [OMIM:153400] +synonym: "lymphedema with distichiasis" RELATED [] +synonym: "lymphedema-distichiasis syndrome" EXACT CLINGEN_LABEL [DOID:0111509, NCIT:C128191, OMIM:153400, Orphanet:33001] +synonym: "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" RELATED [] xref: DOID:0111509 {source="MONDO:equivalentTo"} xref: GARD:333 {source="MONDO:GARD"} xref: ICD10CM:Q82.0 {source="Orphanet:33001/attributed", source="Orphanet:33001/ntbt", source="Orphanet:33001", source="MONDO:directSiblingOf"} @@ -162629,7 +162648,7 @@ id: MONDO:0007923 name: macrocephaly, benign familial synonym: "benign familial macrocephaly" RELATED [GARD:0000147] synonym: "benign familial megalencephaly" RELATED [GARD:0000147] -synonym: "Cole-Hughes syndrome" RELATED [OMIM:153470] +synonym: "Cole-Hughes syndrome" RELATED [] synonym: "macrocephaly, benign familial" EXACT [OMIM:153470] xref: MEDGEN:113101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537717 {source="MONDO:equivalentTo"} @@ -162651,22 +162670,22 @@ subset: orphanet_rare {source="Orphanet:109"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bannayan syndrome" EXACT [NCIT:C3939] -synonym: "Bannayan-Riley-Ruvalcaba syndrome" EXACT [MONDO:Lexical, NCIT:C3939, OMIM:153480] -synonym: "Bannayan-Zonana syndrome" EXACT [DOID:0050657, NCIT:C3939, OMIM:153480] -synonym: "BRRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153480, Orphanet:109] +synonym: "Bannayan-Riley-Ruvalcaba syndrome" EXACT [DOID:0050657, icd11.foundation:357383447, MONDO:Lexical, NCIT:C3939, Orphanet:109] +synonym: "Bannayan-Zonana syndrome" EXACT [DOID:0050657, NCIT:C3939] +synonym: "BRRS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:109] synonym: "BZS" RELATED ABBREVIATION [GARD:0005887] synonym: "macrocephaly multiple lipomas and hemangiomata" RELATED [GARD:0005887] synonym: "macrocephaly pseudopapilledema and multiple hemangiomas" RELATED [GARD:0005887] synonym: "macrocephaly with multiple lipomas and hemangiomas" EXACT [NCIT:C3939] -synonym: "macrocephaly, multiple lipomas, and hemangiomata" RELATED [OMIM:153480] -synonym: "macrocephaly, pseudopapilledema, and multiple hemangiomata" RELATED [OMIM:153480] +synonym: "macrocephaly, multiple lipomas, and hemangiomata" RELATED [] +synonym: "macrocephaly, pseudopapilledema, and multiple hemangiomata" RELATED [] synonym: "Myhre-Riley-Smith syndrome" EXACT [Orphanet:109] synonym: "RILEY-SMITH syndrome" EXACT [DOID:0050657] -synonym: "Riley-Smith syndrome" RELATED [OMIM:153480] +synonym: "Riley-Smith syndrome" RELATED [] synonym: "RMSS" RELATED ABBREVIATION [GARD:0005887] synonym: "Ruvalcaba -Myhre-Smith syndrome" RELATED [GARD:0005887] synonym: "Ruvalcaba-MYHRE-SMITH syndrome" EXACT [DOID:0050657] -synonym: "Ruvalcaba-Myhre-Smith syndrome" RELATED [OMIM:153480] +synonym: "Ruvalcaba-Myhre-Smith syndrome" RELATED [] xref: DOID:0050657 {source="MONDO:equivalentTo"} xref: GARD:5887 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:109", source="Orphanet:109/attributed", source="Orphanet:109/ntbt"} @@ -162705,21 +162724,21 @@ subset: ordo_disorder {source="Orphanet:86841"} subset: orphanet_rare {source="Orphanet:86841"} subset: rare synonym: "5q deletion syndrome" RELATED [GARD:0008723] -synonym: "5Q minus syndrome" EXACT [NCIT:C6867] +synonym: "5Q minus syndrome" EXACT [] synonym: "5q syndrome" RELATED [GARD:0008723] -synonym: "5Q- syndrome" EXACT [NCIT:C6867, OMIM:153550] -synonym: "5q- syndrome" EXACT [NCIT:C6867, Orphanet:86841] +synonym: "5Q- syndrome" EXACT [NCIT:C6867, OMIM:153550, Orphanet:86841] +synonym: "5q- syndrome" EXACT [NCIT:C6867, OMIM:153550, Orphanet:86841] synonym: "5q- syndrome, refractory macrocytic anaemia due to 5q deletion" EXACT OMO:0003005 [] synonym: "5q- syndrome, refractory macrocytic anemia due to 5q deletion" EXACT [DOID:0090016] -synonym: "chromosome 5q deletion syndrome" EXACT [OMIM:153550] -synonym: "macrocytic Anemia, refractory, due to 5Q deletion" RELATED [OMIM:153550] -synonym: "macrocytic anemia, refractory, due to 5q deletion, somatic" EXACT [OMIM:153550, OMIM:genemap2] +synonym: "chromosome 5q deletion syndrome" EXACT [DOID:0090016, OMIM:153550] +synonym: "macrocytic Anemia, refractory, due to 5Q deletion" RELATED [] +synonym: "macrocytic anemia, refractory, due to 5q deletion, somatic" EXACT [] synonym: "MAR" RELATED ABBREVIATION [GARD:0008723] -synonym: "megakaryocytes, unilobular nucleated" RELATED [OMIM:153550] +synonym: "megakaryocytes, unilobular nucleated" RELATED [] synonym: "myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality" EXACT [NCIT:C6867] -synonym: "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" EXACT [DOID:0090016] +synonym: "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" EXACT [DOID:0090016, Orphanet:86841] synonym: "myelodysplastic syndrome with 5q deletion" EXACT [NCIT:C6867] -synonym: "myelodysplastic syndrome with isolated del(5q)" EXACT [NCIT:C6867] +synonym: "myelodysplastic syndrome with isolated del(5q)" EXACT [icd11.foundation:420472577, NCIT:C6867] synonym: "refractory macrocytic anaemia due to 5q deletion" RELATED OMO:0003005 [] synonym: "refractory macrocytic anemia due to 5q deletion" RELATED [GARD:0008723] xref: DOID:0090016 {source="MONDO:equivalentTo"} @@ -162762,7 +162781,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2430"} subset: orphanet_rare {source="Orphanet:2430"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "macroglossia" RELATED [OMIM:153630] +synonym: "macroglossia" RELATED [] xref: GARD:16599 {source="MONDO:GARD"} xref: ICD10CM:Q38.2 {source="Orphanet:2430", source="Orphanet:2430/attributed", source="Orphanet:2430/ntbt"} xref: icd11.foundation:423141418 {source="Orphanet:2430", source="MONDO:equivalentTo"} @@ -162798,8 +162817,8 @@ def: "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance subset: gard_rare {source="GARD:15082", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bernard-Soulier syndrome type A2" RELATED [DOID:0111059] -synonym: "Bernard-Soulier syndrome, type A2 (dominant)" EXACT [OMIM:153670, OMIM:genemap2] +synonym: "Bernard-Soulier syndrome type A2" RELATED [] +synonym: "Bernard-Soulier syndrome, type A2 (dominant)" EXACT [] synonym: "Bernard-Soulier syndrome, type A2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:153670] synonym: "BSSA2" EXACT ABBREVIATION [DOID:0111059, MONDO:Lexical, OMIM:153670] xref: DOID:0111059 {source="MONDO:equivalentTo"} @@ -162823,24 +162842,24 @@ subset: orphanet_rare {source="Orphanet:1243"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Best disease" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243] -synonym: "Best macular dystrophy" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243] -synonym: "Best Vitelliform Macular Dystrophy" EXACT [NORD:853] -synonym: "Best vitelliform macular dystrophy, multifocal" RELATED [OMIM:153700] +synonym: "Best macular dystrophy" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, OMIM:153700, Orphanet:1243] +synonym: "Best Vitelliform Macular Dystrophy" EXACT [NORD:853, Orphanet:1243] +synonym: "Best vitelliform macular dystrophy, multifocal" RELATED [] synonym: "BEST1 retinopathy" EXACT [GARD:0010301] synonym: "BMD" EXACT ABBREVIATION [Orphanet:1243] synonym: "BVMD" EXACT ABBREVIATION [GARD:0000182, Orphanet:1243] synonym: "early-onset vitelliform macular dystrophy" EXACT [Orphanet:1243] synonym: "juvenile-onset vitelliform macular dystrophy" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, Orphanet:1243] -synonym: "macular Degeneration, polymorphic vitelline" RELATED [OMIM:153700] -synonym: "macular degeneration, polymorphic vitelline" EXACT [GARD:0000182, https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/] -synonym: "macular dystrophy, vitelliform, 2" RELATED [MONDO:Lexical, OMIM:153700] -synonym: "macular dystrophy, vitelliform, type 2" EXACT [MONDORULE:1, OMIM:153700] +synonym: "macular Degeneration, polymorphic vitelline" RELATED [] +synonym: "macular degeneration, polymorphic vitelline" EXACT [GARD:0000182, https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, OMIM:153700] +synonym: "macular dystrophy, vitelliform, 2" RELATED [MONDO:Lexical] +synonym: "macular dystrophy, vitelliform, type 2" EXACT [MONDORULE:1] synonym: "polymorphic vitelline macular degeneration" EXACT [Orphanet:1243] synonym: "vitelliform macular dystrophy type 2" EXACT [GARD:0000182, Orphanet:1243] synonym: "vitelliform macular dystrophy, early-onset" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, OMIM:153700] synonym: "vitelliform macular dystrophy, juvenile-onset" EXACT [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/, OMIM:153700] synonym: "vitelliform macular dystrophy, type 2" NARROW [https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy/] -synonym: "VMD2" RELATED ABBREVIATION [GARD:0000182, MONDO:Lexical, OMIM:153700] +synonym: "VMD2" RELATED ABBREVIATION [GARD:0000182, MONDO:Lexical] xref: GARD:182 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:1243/ntbt", source="MONDO:relatedTo", source="Orphanet:1243", source="Orphanet:1243/inclusion"} xref: MEDGEN:411553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -162866,12 +162885,12 @@ def: "An age related macular degeneration conferred by variation in the ABCA4 ge subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "age related macular degeneration type 2" EXACT [DOID:0110015, MONDORULE:1] +synonym: "age related macular degeneration type 2" EXACT [MONDORULE:1] synonym: "ARMD2" EXACT ABBREVIATION [DOID:0110015, MONDO:Lexical, OMIM:153800] -synonym: "macular degeneration, age-related, 2" RELATED [MONDO:Lexical, OMIM:153800] -synonym: "macular Degeneration, age-related, type 2" EXACT [MONDORULE:1, OMIM:153800] -synonym: "macular Degeneration, Senile" RELATED [OMIM:153800] -synonym: "maculopathy, age-related, 2" RELATED [OMIM:153800] +synonym: "macular degeneration, age-related, 2" RELATED [MONDO:Lexical] +synonym: "macular Degeneration, age-related, type 2" EXACT [MONDORULE:1] +synonym: "macular Degeneration, Senile" RELATED [] +synonym: "maculopathy, age-related, 2" RELATED [] xref: DOID:0110015 {source="MONDO:equivalentTo"} xref: MEDGEN:501183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562479 {source="MONDO:equivalentTo"} @@ -162887,8 +162906,8 @@ name: vitelliform macular dystrophy 1 subset: gard_rare {source="GARD:10120", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "macular dystrophy, atypical vitelliform" RELATED [OMIM:153840] -synonym: "macular dystrophy, vitelliform, 1" RELATED [MONDO:Lexical, OMIM:153840] +synonym: "macular dystrophy, atypical vitelliform" RELATED [] +synonym: "macular dystrophy, vitelliform, 1" RELATED [MONDO:Lexical] synonym: "vitelliform macular dystrophy, atypical" RELATED [GARD:0010120] synonym: "VMD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153840] xref: GARD:10120 {source="MONDO:GARD"} @@ -162910,11 +162929,11 @@ subset: ordo_disorder {source="Orphanet:251287"} subset: orphanet_rare {source="Orphanet:251287"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "macular dystrophy, benign concentric annular" RELATED [OMIM:153870] -synonym: "macular dystrophy, concentric annular" RELATED [OMIM:153870] +synonym: "macular dystrophy, benign concentric annular" RELATED [] +synonym: "macular dystrophy, concentric annular" RELATED [] synonym: "maculopathy, bull's eye" RELATED [GARD:0009887] -synonym: "Mcdca" RELATED [OMIM:153870] -synonym: "retinitis pigmentosa 91" EXACT [OMIM:153870, OMIM:genemap2] +synonym: "Mcdca" RELATED [] +synonym: "retinitis pigmentosa 91" EXACT [OMIM:153870] xref: GARD:9887 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:251287/attributed", source="Orphanet:251287/ntbt", source="MONDO:relatedTo", source="Orphanet:251287"} xref: icd11.foundation:1839503243 {source="MONDO:equivalentTo"} @@ -162942,13 +162961,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant cystoid macular edema" EXACT [Orphanet:75381] synonym: "autosomal dominant cystoid macular oedema" EXACT OMO:0003005 [] -synonym: "cystoid macular dystrophy" RELATED [OMIM:153880] +synonym: "cystoid macular dystrophy" RELATED [] synonym: "DCMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153880, Orphanet:75381] synonym: "familial macular edema" EXACT [Orphanet:75381] synonym: "familial macular oedema" EXACT OMO:0003005 [] -synonym: "macular dystrophy, dominant cystoid" RELATED [MONDO:Lexical, OMIM:153880] -synonym: "macular edema, cystoid" RELATED [OMIM:153880] -synonym: "Mddc" RELATED [OMIM:153880] +synonym: "macular dystrophy, dominant cystoid" RELATED [MONDO:Lexical] +synonym: "macular edema, cystoid" RELATED [] +synonym: "Mddc" RELATED [] xref: DOID:4447 {source="MONDO:equivalentTo"} xref: GARD:16694 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:75381/attributed", source="Orphanet:75381/ntbt", source="Orphanet:75381"} @@ -162986,18 +163005,18 @@ subset: ordo_disorder {source="Orphanet:34528"} subset: orphanet_rare {source="Orphanet:34528"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant primary hypomagnesemia with hypocalciuria" RELATED [DOID:0060885] +synonym: "autosomal dominant primary hypomagnesemia with hypocalciuria" RELATED [] synonym: "familial primary hypomagnesemia caused by mutation in FXYD2" EXACT [] synonym: "FXYD2 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "FXYD2 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HOMG2" EXACT ABBREVIATION [DOID:0060885, MONDO:Lexical, OMIM:154020, Orphanet:34528] -synonym: "hypomagnesemia 2, renal" RELATED [MONDO:Lexical, OMIM:154020] +synonym: "hypomagnesemia 2, renal" RELATED [MONDO:Lexical] synonym: "isolated autosomal dominant hypomagnesemia" EXACT [Orphanet:34528] synonym: "isolated renal magnesium wasting" EXACT [Orphanet:34528] -synonym: "magnesium loss, isolated renal" RELATED [OMIM:154020] -synonym: "magnesium wasting, renal" RELATED [OMIM:154020] +synonym: "magnesium loss, isolated renal" RELATED [] +synonym: "magnesium wasting, renal" RELATED [] synonym: "primary hypomagnesemia caused by mutation in FXYD2" EXACT [MONDO:design_pattern] -synonym: "renal hypomagnesemia type 2" EXACT [DOID:0060885, MONDORULE:1, Orphanet:34528] +synonym: "renal hypomagnesemia type 2" EXACT [MONDORULE:1, Orphanet:34528] xref: DOID:0060885 {source="MONDO:equivalentTo"} xref: GARD:3350 {source="MONDO:GARD"} xref: ICD10CM:E83.4 {source="DOID:0060885", source="Orphanet:34528", source="Orphanet:34528/attributed", source="Orphanet:34528/ntbt"} @@ -163022,13 +163041,13 @@ def: "Sex reversal in an individual associated with a 9p24.3 deletion." [NCIT:C1 subset: gard_rare {source="GARD:15083", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion" RELATED [OMIM:154230] -synonym: "46,XY SEX reversal 4" RELATED [OMIM:154230] -synonym: "46,XY sex reversal 4" EXACT [MONDO:Lexical, OMIM:154230] -synonym: "46,XY Sex reversal type 4" EXACT [MONDORULE:1, OMIM:154230] -synonym: "46XY sex reversal 4, Isolated cases" EXACT [OMIM:154230, OMIM:genemap2] -synonym: "chromosome 9P24.3 deletion syndrome" RELATED [OMIM:154230] -synonym: "SRXY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154230] +synonym: "46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion" RELATED [] +synonym: "46,XY SEX reversal 4" RELATED [] +synonym: "46,XY sex reversal 4" EXACT [DOID:0111771, MONDO:Lexical, NCIT:C132270, OMIM:154230] +synonym: "46,XY Sex reversal type 4" EXACT [MONDORULE:1] +synonym: "46XY sex reversal 4, Isolated cases" EXACT [] +synonym: "chromosome 9P24.3 deletion syndrome" RELATED [] +synonym: "SRXY4" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111771 {source="MONDO:equivalentTo"} xref: GARD:15083 {source="MONDO:GARD"} xref: MEDGEN:416704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -163048,12 +163067,12 @@ id: MONDO:0007939 name: malignant hyperthermia, susceptibility to, 2 subset: predisposition synonym: "malignant hyperpyrexia susceptibility type 2" RELATED [GARD:0003364, MESH:C535695] -synonym: "malignant hyperthermia susceptibility 2" EXACT [OMIM:154275, OMIM:genemap2] +synonym: "malignant hyperthermia susceptibility 2" EXACT [] synonym: "malignant hyperthermia susceptibility type 2" RELATED [GARD:0003364] synonym: "malignant hyperthermia, susceptibility to, 2" EXACT [MESH:C535695, OMIM:154275] -synonym: "malignant hyperthermia, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:154275] +synonym: "malignant hyperthermia, susceptibility to, type 2" EXACT [MONDORULE:1] synonym: "MHS2" RELATED ABBREVIATION [GARD:0003364, MESH:C535695] -synonym: "Mhs2" RELATED [OMIM:154275] +synonym: "Mhs2" RELATED [] xref: MEDGEN:419301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535695 {source="MONDO:equivalentTo"} xref: OMIM:154275 {source="MONDO:equivalentTo", source="GARD:0003364"} @@ -163070,12 +163089,12 @@ id: MONDO:0007940 name: malignant hyperthermia, susceptibility to, 3 subset: predisposition synonym: "malignant hyperpyrexia susceptibility type 3" RELATED [GARD:0003365, MESH:C535696] -synonym: "malignant hyperthermia susceptibility 3" EXACT [OMIM:154276, OMIM:genemap2] +synonym: "malignant hyperthermia susceptibility 3" EXACT [] synonym: "malignant hyperthermia susceptibility type 3" RELATED [GARD:0003365] synonym: "malignant hyperthermia, susceptibility to, 3" EXACT [MESH:C535696, OMIM:154276] -synonym: "malignant hyperthermia, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:154276] +synonym: "malignant hyperthermia, susceptibility to, type 3" EXACT [MONDORULE:1] synonym: "MHS3" RELATED ABBREVIATION [GARD:0003365, MESH:C535696] -synonym: "Mhs3" RELATED [OMIM:154276] +synonym: "Mhs3" RELATED [] xref: MEDGEN:418956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535696 {source="MONDO:equivalentTo"} xref: OMIM:154276 {source="GARD:0003365", source="MONDO:equivalentTo"} @@ -163118,19 +163137,19 @@ subset: orphanet_rare {source="Orphanet:245"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acrofacial dysostosis 1, Nager type" EXACT [DOID:5768, MONDO:Lexical, OMIM:154400] -synonym: "AFD" RELATED ABBREVIATION [DOID:5768] -synonym: "AFD, Nager type" RELATED [OMIM:154400] -synonym: "AFD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154400] +synonym: "AFD" RELATED ABBREVIATION [] +synonym: "AFD, Nager type" RELATED [] +synonym: "AFD1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "mandibulofacial dysostosis with preaxial limb anomalies" EXACT [Orphanet:245] -synonym: "mandibulofacial dysostosis, Treacher Collins type, with limb anomalies" RELATED [OMIM:154400] +synonym: "mandibulofacial dysostosis, Treacher Collins type, with limb anomalies" RELATED [] synonym: "NAFD" EXACT ABBREVIATION [Orphanet:245] -synonym: "Nager acrofacial dysostosis" EXACT CLINGEN_LABEL [OMIM:154400, Orphanet:245] +synonym: "Nager acrofacial dysostosis" EXACT CLINGEN_LABEL [DOID:5768, OMIM:154400, Orphanet:245] synonym: "Nager acrofacial dysostosis syndrome" EXACT [GARD:0000498] -synonym: "Nager Syndrome" EXACT [NORD:1487] -synonym: "Nager syndrome" EXACT [DOID:5768, OMIM:154400] +synonym: "Nager Syndrome" EXACT [DOID:5768, NORD:1487, OMIM:154400, Orphanet:245] +synonym: "Nager syndrome" EXACT [DOID:5768, OMIM:154400, Orphanet:245] synonym: "preaxial acrodysostosis" EXACT [Orphanet:245] -synonym: "preaxial acrofacial dysostosis" RELATED [DOID:5768] -synonym: "preaxial manibulofacial dysostosis" RELATED [DOID:5768] +synonym: "preaxial acrofacial dysostosis" RELATED [] +synonym: "preaxial manibulofacial dysostosis" RELATED [] synonym: "split hand deformity-mandibulofacial dysostosis" RELATED [GARD:0000498] xref: DOID:5768 {source="MONDO:equivalentTo"} xref: GARD:498 {source="MONDO:GARD"} @@ -163160,13 +163179,13 @@ def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutat subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "mandibulofacial dysostosis" RELATED [OMIM:154500] +synonym: "mandibulofacial dysostosis" RELATED [] synonym: "TCOF1 Treacher-Collins syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "TCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154500] -synonym: "Treacher Collins syndrome" RELATED [OMIM:154500] -synonym: "TREACHER COLLINS syndrome 1" RELATED [MONDO:Lexical, OMIM:154500] -synonym: "Treacher Collins syndrome type 1" EXACT [MONDORULE:1, OMIM:154500] -synonym: "Treacher Collins-Franceschetti syndrome" RELATED [OMIM:154500] +synonym: "TCS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Treacher Collins syndrome" RELATED [] +synonym: "TREACHER COLLINS syndrome 1" RELATED [MONDO:Lexical] +synonym: "Treacher Collins syndrome type 1" EXACT [MONDORULE:1] +synonym: "Treacher Collins-Franceschetti syndrome" RELATED [] synonym: "Treacher-Collins syndrome 1" EXACT CLINGEN_LABEL [] synonym: "Treacher-Collins syndrome caused by mutation in TCOF1" EXACT [MONDO:design_pattern] xref: DOID:0080789 {source="MONDO:equivalentTo"} @@ -163182,7 +163201,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0007945 name: mannose 6-phosphate receptor recognition defect, Lebanese type synonym: "mannose 6-phosphate receptor recognition defect, Lebanese type" EXACT [OMIM:154570] -synonym: "phosphodiester glycoside deficiency" RELATED [OMIM:154570] +synonym: "phosphodiester glycoside deficiency" RELATED [] xref: MEDGEN:331911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563601 {source="MONDO:equivalentTo"} xref: OMIM:154570 {source="MONDO:equivalentTo"} @@ -163199,17 +163218,17 @@ subset: ordo_disorder {source="Orphanet:91412"} subset: orphanet_rare {source="Orphanet:91412"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "abnormal innervation syndrome of eyelid" RELATED [DOID:560, ICD9CM:374.43] +synonym: "abnormal innervation syndrome of eyelid" RELATED [ICD9CM:374.43] synonym: "familial Marcus Gunn phenomenon (subtype)" RELATED [GARD:0006972] synonym: "jaw-blinking" EXACT [DOID:560] synonym: "jaw-winking" EXACT [OMIM:154600] -synonym: "jaw-winking syndrome" EXACT [Orphanet:91412] +synonym: "jaw-winking syndrome" EXACT [DOID:560, Orphanet:91412] synonym: "mandibulo-palpebral synkinesis-ptosis syndrome" EXACT [Orphanet:91412] -synonym: "Marcus Gunn Phenomenon" EXACT [NORD:1401] +synonym: "Marcus Gunn Phenomenon" EXACT [NORD:1401, OMIM:154600] synonym: "Marcus Gunn phenomenon" EXACT [OMIM:154600] synonym: "Marcus Gunn syndrome" EXACT [GARD:0006972] synonym: "Marcus-Gunn phenomenon" EXACT [Orphanet:91412] -synonym: "Marcus-Gunn syndrome" EXACT [DOID:560] +synonym: "Marcus-Gunn syndrome" EXACT [DOID:560, icd11.foundation:590216180, Orphanet:91412] synonym: "Maxillopalpebral synkinesis" EXACT [OMIM:154600] synonym: "pterygoid-levator synkinesis" EXACT [DOID:560] xref: DOID:560 {source="MONDO:equivalentTo"} @@ -163250,10 +163269,10 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern {source="https://github.com/monarch-initiative/monarch-disease-ontology/issues/101"} subset: rare synonym: "Contractural arachnodactyly" EXACT EXCLUDE [] -synonym: "Marfan syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:154700] +synonym: "Marfan syndrome" EXACT CLINGEN_LABEL [DOID:14323, icd11.foundation:236564145, MONDO:Lexical, NCIT:C34807, OMIM:154700, Orphanet:558] synonym: "Marfan syndrome type 1" EXACT [Orphanet:284963] synonym: "Marfan syndrome, type 1" EXACT [OMIM:154700] -synonym: "Marfan's syndrome" EXACT [DOID:14323] +synonym: "Marfan's syndrome" EXACT [DOID:14323, NCIT:C34807] synonym: "MFS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:154700, Orphanet:558] synonym: "MFS1" EXACT ABBREVIATION [Orphanet:284963] xref: DOID:14323 {source="MONDO:equivalentTo"} @@ -163318,8 +163337,8 @@ subset: orphanet_rare {source="Orphanet:560"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "deafness, myopia, cataract, saddle nose-Marshall type" RELATED [GARD:0006984] -synonym: "Marshall syndrome" EXACT [MONDO:Lexical, OMIM:154780] -synonym: "MRSHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:154780] +synonym: "Marshall syndrome" EXACT [DOID:0111510, icd11.foundation:1401051186, MONDO:Lexical, NCIT:C128115, OMIM:154780, Orphanet:560] +synonym: "MRSHS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111510 {source="MONDO:equivalentTo"} xref: GARD:6984 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:560", source="Orphanet:560/attributed", source="Orphanet:560/ntbt"} @@ -163352,11 +163371,11 @@ subset: nord_rare {source="NORD:1408", source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:98292"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MAST cell disease" RELATED [OMIM:154800] +synonym: "MAST cell disease" RELATED [] synonym: "Mast cell disease" EXACT [NCIT:C84269] synonym: "mast cell hyperplasia" EXACT [DOID:350] -synonym: "mastocytosis" EXACT [NCIT:C84269, OMIM:154800] -synonym: "urticaria pigmentosa" RELATED [OMIM:154800] +synonym: "mastocytosis" EXACT [DOID:350, ICD10WHO:Q82.2, icd11.foundation:691643472, NCIT:C84269, Orphanet:98292] +synonym: "urticaria pigmentosa" RELATED [] xref: DOID:350 {source="MONDO:equivalentTo"} xref: EFO:0009001 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6987 {source="MONDO:GARD"} @@ -163384,7 +163403,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0007951 name: masticatory muscles, hypertrophy of -synonym: "masseter muscle Hypertrophy" RELATED [OMIM:154850] +synonym: "masseter muscle Hypertrophy" RELATED [] synonym: "masticatory muscles, hypertrophy of" EXACT [OMIM:154850] xref: MEDGEN:322570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563600 {source="MONDO:equivalentTo"} @@ -163415,12 +163434,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:1248"} subset: orphanet_rare {source="Orphanet:1248"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Binder syndrome" EXACT [Orphanet:1248] -synonym: "binder syndrome" EXACT [OMIM:155050] +synonym: "Binder syndrome" EXACT [DOID:14683, OMIM:155050, Orphanet:1248] +synonym: "binder syndrome" EXACT [DOID:14683, OMIM:155050, Orphanet:1248] synonym: "binder type maxillonasal dysplasia" EXACT [DOID:14683] synonym: "Maxillonasal dysostosis" EXACT [Orphanet:1248] -synonym: "maxillonasal dysplasia" RELATED [Orphanet:1248] -synonym: "MAXILLONASAL dysplasia, BINDER type" RELATED [OMIM:155050] +synonym: "maxillonasal dysplasia" RELATED [] +synonym: "MAXILLONASAL dysplasia, BINDER type" RELATED [] xref: DOID:14683 {source="MONDO:equivalentTo"} xref: GARD:6992 {source="MONDO:GARD"} xref: ICD10CM:Q75.8 {source="Orphanet:1248", source="Orphanet:1248/attributed", source="Orphanet:1248/ntbt"} @@ -163451,8 +163470,8 @@ id: MONDO:0007955 name: Meckel diverticulum def: "A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "Meckel diverticulum" EXACT [DOID:9487, NCIT:C12264, OMIM:155140] -synonym: "Meckel's diverticulum" EXACT [EFO:1001036] +synonym: "Meckel diverticulum" EXACT [DOID:9487, icd11.foundation:216192536, NCIT:C12264, OMIM:155140] +synonym: "Meckel's diverticulum" EXACT [DOID:9487, EFO:1001036, NCIT:C12264] synonym: "persistent vitelline duct" EXACT [DOID:9487] xref: DOID:9487 {source="MONDO:equivalentTo", source="EFO:1001036"} xref: EFO:1001036 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -163488,11 +163507,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1993"} subset: orphanet_rare {source="Orphanet:1993"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa" RELATED [OMIM:155145] -synonym: "cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa" RELATED [OMIM:155145] -synonym: "median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome" EXACT [GARD:0003439, Orphanet:1993] +synonym: "cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa" RELATED [] +synonym: "cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa" RELATED [] +synonym: "median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome" EXACT [GARD:0003439] synonym: "median cleft of upper lip with polyps of facial skin and nasal mucosa" RELATED [GARD:0003439] -synonym: "Pai syndrome" EXACT [GARD:0003439, OMIM:155145] +synonym: "Pai syndrome" EXACT [GARD:0003439, icd11.foundation:1236130516, OMIM:155145, Orphanet:1993] xref: GARD:3439 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1993/attributed", source="Orphanet:1993/ntbt", source="Orphanet:1993"} xref: icd11.foundation:1236130516 {source="MONDO:equivalentTo"} @@ -163524,14 +163543,14 @@ subset: ordo_disorder {source="Orphanet:99361"} subset: orphanet_rare {source="Orphanet:99361"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial medullary thyroid carcinoma" EXACT CLINGEN_LABEL [] +synonym: "familial medullary thyroid carcinoma" EXACT CLINGEN_LABEL [DOID:0050547, Orphanet:99361] synonym: "familial MTC" EXACT [Orphanet:99361] -synonym: "Fmtc" RELATED [OMIM:155240] +synonym: "Fmtc" RELATED [] synonym: "hereditary medullary thyroid gland carcinoma" EXACT [MONDO:patterns/hereditary] synonym: "hereditary thyroid medullary carcinoma" EXACT [MONDO:patterns/hereditary] -synonym: "medullary thyroid carcinoma" BROAD [OMIM:155240, OMIM:genemap2] -synonym: "MTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155240] -synonym: "Mtc1" RELATED [OMIM:155240] +synonym: "medullary thyroid carcinoma" BROAD [] +synonym: "MTC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Mtc1" RELATED [] synonym: "thyroid carcinoma, familial medullary" EXACT [DOID:0050547, MONDO:Lexical, OMIM:155240] xref: DOID:0050547 {source="MONDO:equivalentTo"} xref: GARD:16901 {source="MONDO:GARD"} @@ -163563,20 +163582,20 @@ subset: rare synonym: "brain medulloblastoma" EXACT [DOID:0050902] synonym: "cerebellar medulloblastoma" EXACT [DOID:0060104] synonym: "cerebellum embryonal neoplasm" EXACT [MONDO:patterns/location] -synonym: "CNS PNET" RELATED [DOID:0050902, NCIT:C5398] -synonym: "CPNET" RELATED ABBREVIATION [DOID:0050902] -synonym: "infratentorial primitive neuroectodermal tumor" RELATED [DOID:0050902] +synonym: "CNS PNET" RELATED [] +synonym: "CPNET" RELATED ABBREVIATION [] +synonym: "infratentorial primitive neuroectodermal tumor" RELATED [] synonym: "infratentorial primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "localised primitive neuroectodermal tumour" RELATED OMO:0003005 [] -synonym: "localized primitive neuroectodermal tumor" RELATED [DOID:0050902] -synonym: "MDB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155255] -synonym: "medulloblastoma" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C3222, OMIM:155255] -synonym: "medulloblastoma with extensive nodularity" RELATED [OMIM:155255] -synonym: "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation" EXACT [OMIM:155255, OMIM:genemap2] -synonym: "medulloblastoma, desmoplastic" RELATED [OMIM:155255] -synonym: "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation" EXACT [OMIM:155255, OMIM:genemap2] +synonym: "localized primitive neuroectodermal tumor" RELATED [] +synonym: "MDB" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "medulloblastoma" EXACT CLINGEN_LABEL [DOID:0050902, MONDO:Lexical, NCIT:C3222, OMIM:155255, Orphanet:616] +synonym: "medulloblastoma with extensive nodularity" RELATED [] +synonym: "medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation" EXACT [] +synonym: "medulloblastoma, desmoplastic" RELATED [] +synonym: "medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation" EXACT [] synonym: "medulloblastoma, malignant" EXACT [NCIT:C3222] -synonym: "medulloblastoma, somatic" EXACT [OMIM:155255, OMIM:genemap2] +synonym: "medulloblastoma, somatic" EXACT [] synonym: "medulloblastomas" EXACT [NCIT:C3222] xref: DOID:0050902 {source="EFO:0002939", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0060104 {source="MONDO:equivalentTo"} @@ -163647,8 +163666,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "macrodactyly" RELATED [OMIM:155500] -synonym: "macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic" EXACT [OMIM:155500, OMIM:genemap2] +synonym: "macrodactyly" RELATED [] +synonym: "macrodactyly, somatic, (3), cerebral cavernous malformations 4, somatic" EXACT [] synonym: "Megalodactyly" EXACT [OMIM:155500] xref: MEDGEN:78564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562546 {source="MONDO:equivalentTo"} @@ -163669,16 +163688,16 @@ name: melanoma, cutaneous malignant, susceptibility to, 1 subset: inferred_rare subset: predisposition subset: rare -synonym: "B-K Mole syndrome" RELATED [OMIM:155600] -synonym: "CMM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155600] -synonym: "dysplastic Nevus syndrome, hereditary" RELATED [OMIM:155600] -synonym: "familial atypical Mole-malignant melanoma syndrome" RELATED [OMIM:155600] -synonym: "melanoma, cutaneous malignant" RELATED [OMIM:155600] -synonym: "melanoma, cutaneous malignant, 1" EXACT [OMIM:155600, OMIM:genemap2] +synonym: "B-K Mole syndrome" RELATED [] +synonym: "CMM1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "dysplastic Nevus syndrome, hereditary" RELATED [] +synonym: "familial atypical Mole-malignant melanoma syndrome" RELATED [] +synonym: "melanoma, cutaneous malignant" RELATED [] +synonym: "melanoma, cutaneous malignant, 1" EXACT [] synonym: "melanoma, cutaneous malignant, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:155600] -synonym: "melanoma, familial" RELATED [OMIM:155600] -synonym: "melanoma, malignant" RELATED [OMIM:155600] -synonym: "melanoma, malignant, somatic" EXACT [OMIM:155600, OMIM:genemap2] +synonym: "melanoma, familial" RELATED [] +synonym: "melanoma, malignant" RELATED [] +synonym: "melanoma, malignant, somatic" EXACT [] xref: MEDGEN:320506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:155600 {source="MONDO:equivalentTo"} xref: Orphanet:404560 {source="OMIM:155600"} @@ -163705,13 +163724,13 @@ subset: predisposition subset: rare synonym: "Atypical Mole syndrome" EXACT [NCIT:C7584] synonym: "B-K Mole syndrome" EXACT [NCIT:C7584] -synonym: "CMM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155601] -synonym: "dysplastic nevus syndrome" EXACT [NCIT:C7584] +synonym: "CMM2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "dysplastic nevus syndrome" EXACT [DOID:10041, NCIT:C7584] synonym: "familial dysplastic nevi" EXACT [NCIT:C7584] -synonym: "melanoma, cutaneous malignant, 2" EXACT [OMIM:155601, OMIM:genemap2] +synonym: "melanoma, cutaneous malignant, 2" EXACT [] synonym: "melanoma, cutaneous malignant, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:155601] -synonym: "melanoma, cutaneous malignant, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:155601] -synonym: "susceptibility to cutaneous malignant melanoma 2" RELATED [OMIM:155601] +synonym: "melanoma, cutaneous malignant, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "susceptibility to cutaneous malignant melanoma 2" RELATED [] xref: DOID:10041 {source="MONDO:equivalentTo"} xref: MEDGEN:331891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D004416 {source="MONDO:equivalentTo", source="DOID:10041"} @@ -163769,9 +163788,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:252206"} subset: orphanet_rare {source="Orphanet:252206"} subset: rare -synonym: "melanoma and neural system tumor syndrome" EXACT [OMIM:155755] +synonym: "melanoma and neural system tumor syndrome" EXACT [DOID:0111511, OMIM:155755, Orphanet:252206] synonym: "melanoma astrocytoma syndrome" RELATED [GARD:0008468] -synonym: "melanoma-astrocytoma syndrome" EXACT [OMIM:155755, Orphanet:252206] +synonym: "melanoma-astrocytoma syndrome" EXACT [DOID:0111511, OMIM:155755, Orphanet:252206] xref: DOID:0111511 {source="MONDO:equivalentTo"} xref: GARD:8468 {source="MONDO:GARD"} xref: MEDGEN:331890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -163790,7 +163809,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0007968 name: melanoma tumor antigen Gp90 -synonym: "Class 1 unique tumor antigen of melanoma" RELATED [OMIM:155770] +synonym: "Class 1 unique tumor antigen of melanoma" RELATED [] synonym: "Class 1 unique tumour antigen of melanoma" RELATED OMO:0003005 [] synonym: "melanoma tumor antigen Gp90" EXACT [OMIM:155770] xref: MEDGEN:322558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -163811,10 +163830,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cheilitis Granulomatosa" RELATED [GARD:0007010] synonym: "cheilitis granulomatosa of Mescher-Melkersson-Rosenthal" EXACT [DOID:1761] -synonym: "Melkersson syndrome" RELATED [OMIM:155900] +synonym: "Melkersson syndrome" RELATED [] synonym: "Melkersson's syndrome" EXACT [DOID:1761] -synonym: "Melkersson-Rosenthal syndrome" EXACT [OMIM:155900] -synonym: "Mros" RELATED [OMIM:155900] +synonym: "Melkersson-Rosenthal syndrome" EXACT [DOID:1761, NCIT:C84886, OMIM:155900, Orphanet:2483] +synonym: "Mros" RELATED [] synonym: "MRS" RELATED ABBREVIATION [GARD:0007010] xref: DOID:1761 {source="MONDO:equivalentTo", source="EFO:1001039"} xref: EFO:1001039 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -163848,9 +163867,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2485"} subset: orphanet_rare {source="Orphanet:2485"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Mel" RELATED [OMIM:155950] -synonym: "melorheostosis, isolated" RELATED [OMIM:155950] -synonym: "melorheostosis, isolated, somatic mosaic" EXACT [OMIM:155950, OMIM:genemap2] +synonym: "Mel" RELATED [] +synonym: "melorheostosis, isolated" RELATED [] +synonym: "melorheostosis, isolated, somatic mosaic" EXACT [] xref: DOID:4253 {source="MONDO:equivalentTo"} xref: GARD:9474 {source="MONDO:GARD"} xref: ICD10CM:M85.8 {source="Orphanet:2485", source="Orphanet:2485/index", source="Orphanet:2485/ntbt"} @@ -163887,7 +163906,7 @@ subset: orphanet_rare {source="Orphanet:3034"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Gonzales-del Angel syndrome" EXACT [Orphanet:3034] -synonym: "membranous cranial ossification, delayed" RELATED [OMIM:155980] +synonym: "membranous cranial ossification, delayed" RELATED [] xref: GARD:1727 {source="MONDO:GARD"} xref: ICD10CM:Q75.8 {source="Orphanet:3034", source="Orphanet:3034/attributed", source="Orphanet:3034/ntbt"} xref: icd11.foundation:766852360 {source="MONDO:equivalentTo"} @@ -163907,8 +163926,8 @@ def: "A disease of the inner ear (labyrinth) that is characterized by fluctuatin subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Meniere disease" EXACT [DOID:9849, OMIM:156000] -synonym: "Meniere's disease" RELATED [DOID:9849] +synonym: "Meniere disease" EXACT [DOID:9849, icd11.foundation:683932278, NCIT:C185243, OMIM:156000] +synonym: "Meniere's disease" RELATED [] synonym: "Mnire's vertigo" EXACT [DOID:9849] synonym: "otogenic vertigo" EXACT [DOID:9849] xref: DOID:9849 {source="EFO:0006862", source="MONDO:equivalentTo"} @@ -163949,17 +163968,17 @@ name: intellectual disability, autosomal dominant 1 def: "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." [NCIT:C141424] subset: gard_rare {source="GARD:18623", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant intellectual disability 1" EXACT [DOID:0070031] +synonym: "autosomal dominant intellectual disability 1" EXACT [] synonym: "autosomal dominant mental retardation 1" EXACT DEPRECATED [DOID:0070031] -synonym: "autosomal dominant non-syndromic intellectual disability 1" RELATED [DOID:0070031] +synonym: "autosomal dominant non-syndromic intellectual disability 1" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5" EXACT [MONDO:design_pattern] -synonym: "chromosome 2Q23.1 deletion syndrome" RELATED [OMIM:156200] -synonym: "intellectual disability, autosomal dominant 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:156200] -synonym: "intellectual disability, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:156200] +synonym: "chromosome 2Q23.1 deletion syndrome" RELATED [] +synonym: "intellectual disability, autosomal dominant 1" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 1" EXACT [MONDORULE:1] synonym: "MBD5 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mental retardation, autosomal dominant 1" RELATED DEPRECATED [MONDO:Lexical, OMIM:156200] -synonym: "mental retardation, autosomal dominant type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:156200] -synonym: "MRD1" EXACT ABBREVIATION [DOID:0070031, MONDO:Lexical, OMIM:156200] +synonym: "mental retardation, autosomal dominant 1" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 1" EXACT DEPRECATED [MONDORULE:1] +synonym: "MRD1" EXACT ABBREVIATION [DOID:0070031, MONDO:Lexical, NCIT:C141424, OMIM:156200] xref: DOID:0070031 {source="MONDO:equivalentTo"} xref: GARD:18623 {source="MONDO:GARD"} xref: MEDGEN:409857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -164011,15 +164030,15 @@ subset: orphanet_rare {source="Orphanet:1836"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Kantaputra mesomelic dysplasia" EXACT [Orphanet:1836] -synonym: "MDK" EXACT ABBREVIATION [Orphanet:1836] -synonym: "Mdk" RELATED [OMIM:156232] +synonym: "MDK" EXACT ABBREVIATION [OMIM:156232, Orphanet:1836] +synonym: "Mdk" RELATED [] synonym: "mesomelic dysplasia Kantaputra type" RELATED [GARD:0003074] synonym: "mesomelic dysplasia Thai type" RELATED [GARD:0003074] synonym: "mesomelic dysplasia with ankle carpal and tarsal synostosis" RELATED [GARD:0003074] -synonym: "mesomelic dysplasia with ankle, carpal, and tarsal synostosis" RELATED [OMIM:156232] -synonym: "mesomelic dysplasia, Kantaputra type" EXACT [MONDO:Lexical, OMIM:156232] +synonym: "mesomelic dysplasia with ankle, carpal, and tarsal synostosis" RELATED [] +synonym: "mesomelic dysplasia, Kantaputra type" EXACT [MONDO:Lexical, OMIM:156232, Orphanet:1836] synonym: "mesomelic dysplasia, Thai type" EXACT [OMIM:156232, Orphanet:1836] -synonym: "MMDK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156232] +synonym: "MMDK" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:3074 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:1836/attributed", source="Orphanet:1836/ntbt", source="Orphanet:1836"} xref: MEDGEN:331880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -164053,9 +164072,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2499"} subset: orphanet_rare {source="Orphanet:2499"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "METACHONDROMATOSIS" RELATED ABBREVIATION [OMIM:156250] -synonym: "metachondromatosis" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:156250] -synonym: "METCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156250] +synonym: "METACHONDROMATOSIS" RELATED ABBREVIATION [] +synonym: "metachondromatosis" EXACT CLINGEN_LABEL [DOID:0111512, icd11.foundation:1342578560, MONDO:Lexical, OMIM:156250, Orphanet:2499] +synonym: "METCDS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111512 {source="MONDO:equivalentTo"} xref: GARD:3560 {source="MONDO:GARD"} xref: ICD10CM:Q78.4 {source="Orphanet:2499/attributed", source="Orphanet:2499/ntbt", source="Orphanet:2499"} @@ -164088,8 +164107,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0007981 name: obsolete metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A -synonym: "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A" EXACT [OMIM:156310] -synonym: "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type A" EXACT [MONDORULE:1, OMIM:156310] +synonym: "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A" EXACT [] +synonym: "metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type A" EXACT [MONDORULE:1] xref: MESH:C563587 {source="MONDO:obsoleteEquivalent"} xref: OMIM:156310 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:512 {source="OMIM:156310"} @@ -164116,7 +164135,7 @@ synonym: "Jansen Type Metaphyseal Chondrodysplasia" EXACT [NORD:1307] synonym: "Jansen type metaphyseal chondrodysplasia" EXACT [GARD:0000079] synonym: "Jansen's metaphyseal chondrodysplasia" EXACT [DOID:0080020] synonym: "metaphyseal chondrodysplasia murk Jansen type" EXACT [GARD:0000079] -synonym: "metaphyseal chondrodysplasia, Jansen type" EXACT [OMIM:156400] +synonym: "metaphyseal chondrodysplasia, Jansen type" EXACT [icd11.foundation:1652660420, NCIT:C131868, OMIM:156400, Orphanet:33067] synonym: "metaphyseal chondrodysplasia, murk Jansen type" EXACT [OMIM:156400] synonym: "murk Jansen type metaphyseal chondrodysplasia" EXACT [DOID:0080020, GARD:0000079] xref: DOID:0080020 {source="MONDO:equivalentTo"} @@ -164156,8 +164175,8 @@ subset: rare synonym: "Japanese type spondylometaphyseal dysplasia" EXACT [DOID:0080021] synonym: "MCDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:156500] synonym: "metaphyseal chondrodysplasia Schmid type" EXACT [GARD:0007029] -synonym: "Metaphyseal Chondrodysplasia, Schmid Type" EXACT [NORD:1444] -synonym: "metaphyseal chondrodysplasia, Schmid type" EXACT [MONDO:Lexical, OMIM:156500] +synonym: "Metaphyseal Chondrodysplasia, Schmid Type" EXACT [NORD:1444, OMIM:156500, Orphanet:174] +synonym: "metaphyseal chondrodysplasia, Schmid type" EXACT [MONDO:Lexical, OMIM:156500, Orphanet:174] synonym: "Schmid type metaphyseal dysplasia" EXACT [DOID:0080021] synonym: "spondylometaphyseal dysplasia, Japanese type" EXACT [OMIM:156500] xref: DOID:0080021 {source="MONDO:equivalentTo"} @@ -164193,9 +164212,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2504"} subset: orphanet_rare {source="Orphanet:2504"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDMHB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156510] +synonym: "MDMHB" RELATED ABBREVIATION [MONDO:Lexical] synonym: "metaphyseal dysplasia maxillary hypoplasia brachydactyly" RELATED [GARD:0003568] -synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" RELATED [MONDO:Lexical, OMIM:156510] +synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" RELATED [MONDO:Lexical] xref: DOID:0111513 {source="MONDO:equivalentTo"} xref: GARD:3568 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:2504", source="Orphanet:2504/attributed", source="Orphanet:2504/ntbt"} @@ -164215,7 +164234,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3568/metaphy [Term] id: MONDO:0007985 name: metatarsus varus, type 1 -synonym: "metatarsus varus, type I" RELATED [OMIM:156520] +synonym: "metatarsus varus, type I" RELATED [] xref: MEDGEN:331870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563585 {source="MONDO:equivalentTo"} xref: OMIM:156520 {source="MONDO:equivalentTo"} @@ -164232,8 +164251,8 @@ subset: ordo_disorder {source="Orphanet:2635"} subset: orphanet_rare {source="Orphanet:2635"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Metatropic dwarfism" EXACT [OMIM:156530, Orphanet:2635] -synonym: "metatropic dysplasia" EXACT CLINGEN_LABEL [OMIM:156530] +synonym: "Metatropic dwarfism" EXACT [DOID:0111514, OMIM:156530, Orphanet:2635] +synonym: "metatropic dysplasia" EXACT CLINGEN_LABEL [DOID:0111514, NCIT:C175209, OMIM:156530, Orphanet:2635] synonym: "Metatropic Dysplasia I" EXACT [NORD:1445] synonym: "Metatropic dysplasia, nonlethal dominant" RELATED [GARD:0003571] xref: DOID:0111514 {source="MONDO:equivalentTo"} @@ -164264,7 +164283,7 @@ subset: ordo_disorder {source="Orphanet:485"} subset: orphanet_rare {source="Orphanet:485"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Kniest dysplasia" EXACT [OMIM:156550] +synonym: "Kniest dysplasia" EXACT [DOID:0080045, icd11.foundation:2088691719, NCIT:C125594, OMIM:156550, Orphanet:485] xref: DOID:0080045 {source="MONDO:equivalentTo"} xref: GARD:6841 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:485/attributed", source="Orphanet:485/ntbt", source="Orphanet:485"} @@ -164302,12 +164321,12 @@ subset: ordo_etiological_subtype {source="Orphanet:2514"} subset: ordo_subtype_of_a_disorder {source="Orphanet:2514"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant microcephaly" RELATED [DOID:14725, GARD:0003605] -synonym: "autosomal dominant primary microcephaly" EXACT [GARD:0003605] +synonym: "autosomal dominant microcephaly" RELATED [GARD:0003605] +synonym: "autosomal dominant primary microcephaly" EXACT [GARD:0003605, icd11.foundation:774437947, Orphanet:2514] synonym: "microcephaly (disease), autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "microcephaly autosomal dominant" RELATED [GARD:0003605] synonym: "microcephaly with autosomal dominant inheritance" RELATED [GARD:0003605] -synonym: "microcephaly, autosomal dominant" RELATED [OMIM:156580] +synonym: "microcephaly, autosomal dominant" RELATED [] xref: DOID:14725 {source="MONDO:equivalentTo"} xref: GARD:3605 {source="MONDO:GARD"} xref: ICD10CM:Q02 {source="Orphanet:2514", source="Orphanet:2514/attributed", source="Orphanet:2514/ntbt"} @@ -164337,11 +164356,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:566"} subset: orphanet_rare {source="Orphanet:566"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 13Q32 deletion syndrome" RELATED [OMIM:156600] +synonym: "chromosome 13Q32 deletion syndrome" RELATED [] synonym: "congenital miosis" EXACT [Orphanet:566] -synonym: "Mcor" RELATED [OMIM:156600] -synonym: "microcoria, congenital" RELATED [OMIM:156600] -synonym: "miosis, congenital" RELATED [OMIM:156600] +synonym: "Mcor" RELATED [] +synonym: "microcoria, congenital" RELATED [] +synonym: "miosis, congenital" RELATED [] synonym: "pinhole pupils" RELATED [GARD:0003635] xref: GARD:3635 {source="MONDO:GARD"} xref: MEDGEN:227002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -164364,15 +164383,15 @@ subset: ordo_disorder {source="Orphanet:2505"} subset: orphanet_rare {source="Orphanet:2505"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CCSF" EXACT ABBREVIATION [Orphanet:2505] -synonym: "circumferential skin creases, Kunze type" EXACT [Orphanet:2505] -synonym: "congenital circumferential skin folds" EXACT [Orphanet:2505] +synonym: "CCSF" EXACT ABBREVIATION [DOID:0112241, Orphanet:2505] +synonym: "circumferential skin creases, Kunze type" EXACT [DOID:0112241, Orphanet:2505] +synonym: "congenital circumferential skin folds" EXACT [DOID:0112241, Orphanet:2505] synonym: "CSCSC" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] synonym: "Kunze Riehm syndrome" RELATED [GARD:0003589] -synonym: "Kunze-Riehm syndrome" EXACT [Orphanet:2505] -synonym: "Michelin tire baby syndrome" RELATED [OMIM:156610] +synonym: "Kunze-Riehm syndrome" EXACT [DOID:0112241, Orphanet:2505] +synonym: "Michelin tire baby syndrome" RELATED [] synonym: "Michelin tyre baby syndrome" RELATED OMO:0003005 [] -synonym: "skin creases, multiple benign ring-shaped, of limbs" RELATED [OMIM:156610] +synonym: "skin creases, multiple benign ring-shaped, of limbs" RELATED [] xref: DOID:0112241 {source="MONDO:equivalentTo"} xref: GARD:3589 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:2505/attributed", source="Orphanet:2505/ntbt", source="Orphanet:2505"} @@ -164395,7 +164414,7 @@ subset: rare synonym: "Kawashima Tsuji syndrome" RELATED [GARD:0000230] synonym: "Kawashima-Tsuji syndrome" EXACT [Orphanet:2533] synonym: "microcephaly deafness syndrome" RELATED [GARD:0000230] -synonym: "microcephaly-deafness syndrome" RELATED [OMIM:156620] +synonym: "microcephaly-deafness syndrome" RELATED [] synonym: "syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies" RELATED [GARD:0000230] synonym: "syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies" RELATED DEPRECATED [GARD:0000230] xref: GARD:230 {source="MONDO:GARD"} @@ -164421,7 +164440,7 @@ subset: orphanet_rare {source="Orphanet:2536"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary microcornea, glaucoma, and absent frontal sinuses" RELATED [GARD:0003637] -synonym: "microcornea, glaucoma, and absent frontal sinuses" RELATED [OMIM:156700] +synonym: "microcornea, glaucoma, and absent frontal sinuses" RELATED [] xref: GARD:3637 {source="MONDO:GARD"} xref: ICD10CM:Q15.8 {source="Orphanet:2536", source="Orphanet:2536/attributed", source="Orphanet:2536/ntbt"} xref: MEDGEN:331860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -164443,8 +164462,8 @@ subset: orphanet_rare {source="Orphanet:2538"} subset: rare synonym: "congenital microgastria and limb reduction defects" RELATED [GARD:0003640] synonym: "microgastria limb reduction defect" RELATED [GARD:0003640] -synonym: "microgastria-limb reduction defects association" RELATED [MONDO:Lexical, OMIM:156810] -synonym: "MLRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156810] +synonym: "microgastria-limb reduction defects association" RELATED [MONDO:Lexical] +synonym: "MLRD" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:3640 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2538/ntbt", source="Orphanet:2538"} xref: MEDGEN:322532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -164477,7 +164496,7 @@ name: microphthalmia, isolated, with cataract 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract, congenital, with microphthalmia" RELATED [OMIM:156850] +synonym: "cataract, congenital, with microphthalmia" RELATED [] synonym: "congenital cataract with microphthalmia" RELATED [GARD:0009610] synonym: "MCOPCT1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:156850] synonym: "microphthalmia with cataract 1" RELATED [GARD:0009610] @@ -164493,9 +164512,9 @@ is_a: MONDO:0016764 {source="Orphanet:2542/btnt"} ! isolated anophthalmia-microp [Term] id: MONDO:0007996 name: microphthalmia, isolated, with corectopia -synonym: "MCOPCR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:156900] -synonym: "microphthalmia and corectopia" RELATED [OMIM:156900] -synonym: "microphthalmia with myopia and corectopia" RELATED [OMIM:156900] +synonym: "MCOPCR" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microphthalmia and corectopia" RELATED [] +synonym: "microphthalmia with myopia and corectopia" RELATED [] synonym: "microphthalmia, isolated, with corectopia" EXACT [MONDO:Lexical, OMIM:156900] xref: MEDGEN:320474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563581 {source="MONDO:equivalentTo"} @@ -164524,7 +164543,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2551"} subset: orphanet_rare {source="Orphanet:2551"} subset: rare synonym: "dominantly inherited bone dysplasia with severe eye involvement" RELATED [GARD:0005481] -synonym: "microspherophakia-metaphyseal dysplasia" RELATED [OMIM:157151] +synonym: "microspherophakia-metaphyseal dysplasia" RELATED [] synonym: "Verloes Van Maldergem Marneffe syndrome" RELATED [GARD:0005481] synonym: "Verloes-Van Maldergem-de Marneffe syndrome" EXACT [Orphanet:2551] xref: GARD:5481 {source="MONDO:GARD"} @@ -164544,9 +164563,9 @@ def: "A rare disorder characterized by the partial separation of the cerebral he subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "holoprosencephaly 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:157170] +synonym: "holoprosencephaly 2" EXACT CLINGEN_LABEL [DOID:0110872, MONDO:Lexical, NCIT:C74995, OMIM:157170] synonym: "holoprosencephaly caused by mutation in SIX3" EXACT [MONDO:design_pattern] -synonym: "holoprosencephaly type 2" EXACT [DOID:0110872, MONDORULE:1, OMIM:157170] +synonym: "holoprosencephaly type 2" EXACT [MONDORULE:1, NCIT:C74995] synonym: "HPE2" EXACT ABBREVIATION [DOID:0110872, MONDO:Lexical, OMIM:157170] synonym: "SIX3 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110872 {source="MONDO:equivalentTo"} @@ -164565,14 +164584,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008000 name: migraine with or without aura, susceptibility to, 1 subset: predisposition -synonym: "Mgau" RELATED [OMIM:157300] -synonym: "Mgr1" RELATED [OMIM:157300] -synonym: "migraine" RELATED [OMIM:157300] +synonym: "Mgau" RELATED [] +synonym: "Mgr1" RELATED [] +synonym: "migraine" RELATED [] synonym: "migraine with or without aura, susceptibility to, 1" EXACT [OMIM:157300] -synonym: "migraine with or without aura, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:157300] -synonym: "migraine without aura, susceptibility to" EXACT [OMIM:157300, OMIM:genemap2] -synonym: "migraine, resistance to" EXACT [OMIM:157300, OMIM:genemap2] -synonym: "migraine, susceptibility to" EXACT [OMIM:157300, OMIM:genemap2] +synonym: "migraine with or without aura, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "migraine without aura, susceptibility to" EXACT [] +synonym: "migraine, resistance to" EXACT [] +synonym: "migraine, susceptibility to" EXACT [] xref: ICD9:346.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:346.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:854348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -164585,7 +164604,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008001 name: milia, multiple eruptive -synonym: "MEM" RELATED ABBREVIATION [OMIM:157400] +synonym: "MEM" RELATED ABBREVIATION [] synonym: "milia, multiple eruptive" EXACT [OMIM:157400] xref: MEDGEN:83356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562823 {source="MONDO:equivalentTo"} @@ -164602,14 +164621,14 @@ subset: gard_rare {source="GARD:15086", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bimanual synergia" RELATED [OMIM:157600] +synonym: "bimanual synergia" RELATED [] synonym: "DCC familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial congenital mirror movements caused by mutation in DCC" EXACT [MONDO:design_pattern] synonym: "mirror movements 1" EXACT [MONDO:Lexical, OMIM:157600] -synonym: "mirror movements 1 and/Or agenesis of the corpus callosum" RELATED [OMIM:157600] -synonym: "mirror movements type 1" EXACT [MONDORULE:1, OMIM:157600] -synonym: "mirror movements, congenital" RELATED [OMIM:157600] -synonym: "MRMV1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157600] +synonym: "mirror movements 1 and/Or agenesis of the corpus callosum" RELATED [] +synonym: "mirror movements type 1" EXACT [MONDORULE:1] +synonym: "mirror movements, congenital" RELATED [] +synonym: "MRMV1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15086 {source="MONDO:GARD"} xref: MEDGEN:320461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:157600 {source="MONDO:equivalentTo"} @@ -164634,9 +164653,9 @@ subset: orphanet_rare {source="Orphanet:254892"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adPEO" EXACT [Orphanet:254892] -synonym: "PEOA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157640] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:157640] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:157640] +synonym: "PEOA1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" RELATED [MONDO:Lexical] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1" EXACT [MONDORULE:1] synonym: "progressive external ophthalmoplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:16486 {source="MONDO:GARD"} xref: ICD10CM:H49.4 {source="Orphanet:254892/attributed", source="Orphanet:254892/ntbt", source="Orphanet:254892"} @@ -164659,9 +164678,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:741"} subset: orphanet_rare {source="Orphanet:741"} subset: rare synonym: "hereditary mitral valve prolapse (disease)" EXACT [MONDO:patterns/hereditary] -synonym: "mitral valve prolapse, familial" RELATED [MONDO:Lexical, OMIM:157700] +synonym: "mitral valve prolapse, familial" RELATED [MONDO:Lexical] synonym: "mitral valve prolapse, familial, autosomal dominant" RELATED [GARD:0003687] -synonym: "MVP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:157700] +synonym: "MVP" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:3687 {source="MONDO:GARD"} xref: ICD10CM:I34.1 {source="Orphanet:741", source="Orphanet:741/attributed", source="Orphanet:741/ntbt"} xref: MEDGEN:573696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -164686,13 +164705,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:3238"} subset: orphanet_rare {source="Orphanet:3238"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cardiospondylocarpofacial syndrome" EXACT [OMIM:157800] +synonym: "cardiospondylocarpofacial syndrome" EXACT [NCIT:C188216, OMIM:157800, Orphanet:3238] synonym: "congenital heart disease, deafness, and skeletal malformations" RELATED [GARD:0002362] -synonym: "CSCF" RELATED ABBREVIATION [OMIM:157800] +synonym: "CSCF" RELATED ABBREVIATION [] synonym: "Forney Robinson Pascoe syndrome" RELATED [GARD:0002362] synonym: "Forney syndrome" EXACT [Orphanet:3238] synonym: "Forney-Robinson-Pascoe syndrome" EXACT [Orphanet:3238] -synonym: "mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones" RELATED [OMIM:157800] +synonym: "mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones" RELATED [] synonym: "mitral regurgitation-deafness-skeletal anomalies syndrome" EXACT [Orphanet:3238] xref: GARD:2362 {source="MONDO:GARD"} xref: MEDGEN:444060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -164719,18 +164738,18 @@ subset: orphanet_rare {source="Orphanet:570"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "absence or underdevelopment of the 6th and 7th cranial nerves" RELATED [GARD:0008549] -synonym: "congenital facial diplegia" EXACT [Orphanet:570] +synonym: "congenital facial diplegia" EXACT [] synonym: "congenital facial diplegia syndrome" RELATED [GARD:0008549] synonym: "congenital oculofacial paralysis" RELATED [GARD:0008549] synonym: "MBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:157900] -synonym: "Mobius syndrome" EXACT [OMIM:157900] +synonym: "Mobius syndrome" EXACT [DOID:13501, NCIT:C84893, OMIM:157900] synonym: "Moebius congenital oculofacial paralysis" EXACT [DOID:13501] synonym: "Moebius sequence" EXACT [OMIM:157900] -synonym: "Moebius Syndrome" EXACT [NORD:1453] -synonym: "Moebius syndrome" EXACT [MONDO:Lexical, OMIM:157900] -synonym: "Moebius syndrome, Isolated cases" EXACT [OMIM:157900, OMIM:genemap2] +synonym: "Moebius Syndrome" EXACT [DOID:13501, NCIT:C84893, NORD:1453, OMIM:157900, Orphanet:570] +synonym: "Moebius syndrome" EXACT [DOID:13501, MONDO:Lexical, NCIT:C84893, OMIM:157900, Orphanet:570] +synonym: "Moebius syndrome, Isolated cases" EXACT [] synonym: "Möbius syndrome" EXACT [NCIT:C84893, Orphanet:570] -synonym: "oromandibular-limb hypogenesis spectrum" EXACT [DOID:13501] +synonym: "oromandibular-limb hypogenesis spectrum" EXACT [DOID:13501, NCIT:C84893] xref: DOID:13501 {source="EFO:1001046", source="MONDO:equivalentTo"} xref: GARD:8549 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:570/inclusion", source="Orphanet:570/ntbt", source="Orphanet:570", source="DOID:13501"} @@ -164768,13 +164787,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "abnormal fusion of dental cementum with alveolar bone" RELATED [GARD:0000701] synonym: "ankylosis (disease) of calcareous tooth" EXACT [] -synonym: "ankylosis of teeth" EXACT [DOID:12661, ICD9CM:521.6, OMIM:157950, Orphanet:1077] -synonym: "ankylosis of tooth" EXACT [DOID:12661] +synonym: "ankylosis of teeth" EXACT [DOID:12661, icd11.foundation:2066427602, ICD9CM:521.6, OMIM:157950, Orphanet:1077] +synonym: "ankylosis of tooth" EXACT [DOID:12661, icd11.foundation:2066427602] synonym: "calcareous tooth ankylosis (disease)" EXACT [MONDO:patterns/location] -synonym: "dental ankylosis" RELATED [OMIM:157950] -synonym: "molar 1 reinclusion" RELATED [OMIM:157950] +synonym: "dental ankylosis" RELATED [] +synonym: "molar 1 reinclusion" RELATED [] synonym: "molar I reinclusion" RELATED [GARD:0000701] -synonym: "permanent molars, secondary retention OF" RELATED [OMIM:157950] +synonym: "permanent molars, secondary retention OF" RELATED [] synonym: "secondary retention of permanent molars" RELATED [GARD:0000701] xref: DOID:12661 {source="MONDO:equivalentTo", source="EFO:1001215"} xref: GARD:701 {source="MONDO:GARD"} @@ -164807,10 +164826,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "macrocephaly-obesity-mental disability-ocular abnormalities syndrome" EXACT [Orphanet:2563] synonym: "macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)" RELATED [GARD:0000178] -synonym: "macrosomia, obesity, macrocephaly, and ocular abnormalities" RELATED [OMIM:157980] +synonym: "macrosomia, obesity, macrocephaly, and ocular abnormalities" RELATED [] synonym: "macrosomia, obesity, macrocephaly, ocular abnormalities" RELATED [GARD:0000178] synonym: "macrosomia-obesity-macrocephaly-ocular abnormalities syndrome" EXACT [Orphanet:2563] -synonym: "MOMO syndrome" EXACT [OMIM:157980] +synonym: "MOMO syndrome" EXACT [OMIM:157980, Orphanet:2563] xref: GARD:178 {source="MONDO:GARD"} xref: ICD10CM:Q87.3 {source="Orphanet:2563/attributed", source="Orphanet:2563/ntbt", source="Orphanet:2563"} xref: MEDGEN:371897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -164832,8 +164851,8 @@ subset: ordo_disorder {source="Orphanet:573"} subset: orphanet_rare {source="Orphanet:573"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MNLIX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158000] -synonym: "monilethrix" EXACT [MONDO:Lexical, OMIM:158000] +synonym: "MNLIX" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "monilethrix" EXACT [DOID:0050472, icd11.foundation:415074833, MONDO:Lexical, NCIT:C84894, OMIM:158000, Orphanet:573] synonym: "moniliform hair syndrome" EXACT [Orphanet:573] synonym: "nodose hair" RELATED [GARD:0000093] xref: DOID:0050472 {source="MONDO:equivalentTo"} @@ -164860,7 +164879,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/93/monilethr id: MONDO:0008010 name: antigen defined by monoclonal antibody Aj9 synonym: "antigen defined by monoclonal antibody Aj9" EXACT [OMIM:158030] -synonym: "Msk1" RELATED [OMIM:158030] +synonym: "Msk1" RELATED [] xref: MEDGEN:371896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:158030 {source="MONDO:equivalentTo"} xref: UMLS:C1834757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371896"} @@ -164870,7 +164889,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008011 name: antigen defined by monoclonal antibody T87 synonym: "antigen defined by monoclonal antibody T87" EXACT [OMIM:158040] -synonym: "Msk2" RELATED [OMIM:158040] +synonym: "Msk2" RELATED [] xref: MEDGEN:331821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:158040 {source="MONDO:equivalentTo"} xref: UMLS:C1834756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331821"} @@ -164908,13 +164927,13 @@ synonym: "chromosome 9p deletion" EXACT [GARD:0003773] synonym: "deletion 9p" EXACT [GARD:0003773] synonym: "monosomy 9p" EXACT [Orphanet:261112] synonym: "monosomy 9p syndrome" EXACT [DOID:0060732, OMIM:158170] -synonym: "monosomy type 9p" EXACT [MONDORULE:4, Orphanet:261112] -synonym: "partial deletion of chromosome 9p" EXACT [Orphanet:261929] +synonym: "monosomy type 9p" EXACT [MONDORULE:4] +synonym: "partial deletion of chromosome 9p" EXACT [] synonym: "partial deletion of the short arm of chromosome 9" EXACT [MONDO:0016891] -synonym: "partial deletion of the short arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:261929] +synonym: "partial deletion of the short arm of chromosome type 9" EXACT [MONDORULE:1] synonym: "partial monosomy 9p" EXACT [GARD:0003773] -synonym: "partial monosomy of chromosome 9p" EXACT [Orphanet:261929] -synonym: "partial monosomy of the short arm of chromosome 9" EXACT [Orphanet:261929] +synonym: "partial monosomy of chromosome 9p" EXACT [] +synonym: "partial monosomy of the short arm of chromosome 9" EXACT [] xref: DOID:0060732 {source="MONDO:equivalentTo"} xref: GARD:3773 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261929/attributed", source="Orphanet:261929/ntbt", source="Orphanet:261929", source="DOID:0060732", source="Orphanet:261112", source="Orphanet:261112/attributed", source="Orphanet:261112/ntbt"} @@ -164934,8 +164953,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008014 name: nondisjunction -synonym: "mixoploidy, familial" RELATED [OMIM:158250] -synonym: "mosaicism, chromosomal" RELATED [OMIM:158250] +synonym: "mixoploidy, familial" RELATED [] +synonym: "mosaicism, chromosomal" RELATED [] synonym: "nondisjunction" EXACT [OMIM:158250] xref: MEDGEN:320427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:158250 {source="MONDO:equivalentTo"} @@ -164948,8 +164967,8 @@ name: motion sickness def: "A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting." [NCIT:P378] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "motion sickness" EXACT [OMIM:158280] -synonym: "travel sickness" EXACT [DOID:2951, NCIT:C34824] +synonym: "motion sickness" EXACT [DOID:2951, ICD10CM:T75.3, icd11.foundation:1078108554, OMIM:158280] +synonym: "travel sickness" EXACT [DOID:2951, ICD10CM:T75.3] xref: DOID:2951 {source="MONDO:equivalentTo"} xref: ICD10CM:T75.3 {source="MONDO:equivalentTo", source="DOID:2951"} xref: icd11.foundation:1078108554 {source="MONDO:equivalentTo"} @@ -164978,14 +164997,14 @@ subset: orphanet_rare {source="Orphanet:3377"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arthrogryposis distal type 7" RELATED [GARD:0002621] -synonym: "arthrogryposis, distal, type 7" RELATED [MONDO:Lexical, OMIM:158300] -synonym: "DA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158300] -synonym: "distal arthrogryposis type 7" EXACT [Orphanet:3377] -synonym: "Dutch-Kentucky syndrome" EXACT [Orphanet:3377] -synonym: "Hecht syndrome" EXACT [OMIM:158300, Orphanet:3377] -synonym: "Hecht-Beals syndrome" EXACT [Orphanet:3377] -synonym: "mouth, inability to open completely, and short finger-flexor tendons" RELATED [OMIM:158300] -synonym: "trismus-pseudocamptodactyly syndrome" EXACT [OMIM:158300] +synonym: "arthrogryposis, distal, type 7" RELATED [MONDO:Lexical] +synonym: "DA7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "distal arthrogryposis type 7" EXACT [DOID:0111603, Orphanet:3377] +synonym: "Dutch-Kentucky syndrome" EXACT [DOID:0111603, Orphanet:3377] +synonym: "Hecht syndrome" EXACT [DOID:0111603, OMIM:158300, Orphanet:3377] +synonym: "Hecht-Beals syndrome" EXACT [DOID:0111603, Orphanet:3377] +synonym: "mouth, inability to open completely, and short finger-flexor tendons" RELATED [] +synonym: "trismus-pseudocamptodactyly syndrome" EXACT [DOID:0111603, OMIM:158300, Orphanet:3377] xref: DOID:0111603 {source="MONDO:equivalentTo"} xref: GARD:2621 {source="MONDO:GARD"} xref: ICD10CM:Q68.8 {source="Orphanet:3377/attributed", source="Orphanet:3377/ntbt", source="Orphanet:3377"} @@ -165036,11 +165055,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas" RELATED [GARD:0006821] -synonym: "cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas" RELATED [OMIM:158320] -synonym: "MRTES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158320] -synonym: "MUIR-Torre syndrome" RELATED [OMIM:158320] -synonym: "Muir-Torre syndrome" EXACT [MONDO:Lexical, OMIM:158320] -synonym: "multiple keratoacanthoma, Muir-Torre type" EXACT [Orphanet:587] +synonym: "cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas" RELATED [] +synonym: "MRTES" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "MUIR-Torre syndrome" RELATED [] +synonym: "Muir-Torre syndrome" EXACT [DOID:0050465, icd11.foundation:229304403, MONDO:Lexical, NCIT:C84905, OMIM:158320] +synonym: "multiple keratoacanthoma, Muir-Torre type" EXACT [] xref: DOID:0050465 {source="MONDO:equivalentTo"} xref: GARD:6821 {source="MONDO:GARD"} xref: ICD10CM:L72.8 {source="Orphanet:587", source="Orphanet:587/attributed", source="Orphanet:587/ntbt"} @@ -165072,12 +165091,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:247768"} subset: orphanet_rare {source="Orphanet:247768"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mullerian aplasia and hyperandrogenism" EXACT [OMIM:158330] -synonym: "Mullerian duct failure and hyperandrogenism" EXACT [OMIM:158330, Orphanet:247768] -synonym: "Müllerian aplasia and hyperandrogenism" RELATED [Orphanet:247768] +synonym: "mullerian aplasia and hyperandrogenism" EXACT [DOID:0111526, NCIT:C120376, OMIM:158330] +synonym: "Mullerian duct failure and hyperandrogenism" EXACT [DOID:0111526, OMIM:158330] +synonym: "Müllerian aplasia and hyperandrogenism" RELATED [] synonym: "Müllerian duct failure and hyperandrogenism" EXACT [Orphanet:247768] -synonym: "WNT4 Deficiency" EXACT [NORD:1858] -synonym: "WNT4 deficiency" EXACT [Orphanet:247768] +synonym: "WNT4 Deficiency" EXACT [DOID:0111526, NCIT:C120376, NORD:1858, Orphanet:247768] +synonym: "WNT4 deficiency" EXACT [DOID:0111526, NCIT:C120376, Orphanet:247768] xref: DOID:0111526 {source="MONDO:equivalentTo"} xref: GARD:17195 {source="MONDO:GARD"} xref: ICD10CM:Q51.8 {source="Orphanet:247768", source="Orphanet:247768/attributed", source="Orphanet:247768/ntbt"} @@ -165110,18 +165129,18 @@ name: Cowden syndrome 1 def: "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16450", source="MONDO:GARD"} subset: rare -synonym: "cerebellar granule cell Hypertrophy and megalencephaly" RELATED [OMIM:158350] -synonym: "cerebelloparenchymal disorder 6" RELATED [OMIM:158350] +synonym: "cerebellar granule cell Hypertrophy and megalencephaly" RELATED [] +synonym: "cerebelloparenchymal disorder 6" RELATED [] synonym: "Cowden disease caused by mutation in PTEN" EXACT [MONDO:design_pattern] synonym: "Cowden syndrome 1" EXACT [MONDO:Lexical, OMIM:158350] -synonym: "Cowden syndrome type 1" EXACT [MONDORULE:1, OMIM:158350] -synonym: "CS" RELATED ABBREVIATION [OMIM:158350] -synonym: "CWS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158350] -synonym: "dysplastic gangliocytoma of the cerebellum" RELATED [OMIM:158350] -synonym: "Lhermitte-Duclos disease" RELATED [OMIM:158350] -synonym: "Lhermitte-Duclos syndrome" EXACT [OMIM:158350, OMIM:genemap2] -synonym: "multiple hamartoma syndrome" RELATED [OMIM:158350] -synonym: "Proteus-like syndrome" RELATED [OMIM:158350] +synonym: "Cowden syndrome type 1" EXACT [MONDORULE:1] +synonym: "CS" RELATED ABBREVIATION [] +synonym: "CWS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "dysplastic gangliocytoma of the cerebellum" RELATED [] +synonym: "Lhermitte-Duclos disease" RELATED [] +synonym: "Lhermitte-Duclos syndrome" EXACT [] +synonym: "multiple hamartoma syndrome" RELATED [] +synonym: "Proteus-like syndrome" RELATED [] synonym: "PTEN Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16450 {source="MONDO:GARD"} xref: OMIM:158350 {source="MONDO:equivalentTo"} @@ -165157,7 +165176,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Furukawa-Takagi-Nakao syndrome" EXACT [Orphanet:2579] synonym: "muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus" RELATED [GARD:0002417] -synonym: "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus" RELATED [OMIM:158500] +synonym: "muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus" RELATED [] xref: GARD:2417 {source="MONDO:GARD"} xref: ICD9:728.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:137966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -165180,16 +165199,16 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18269", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Dhmn7A" RELATED [OMIM:158580] -synonym: "Dhmnvp" RELATED [OMIM:158580] -synonym: "Harper-Young myopathy" RELATED [OMIM:158580] -synonym: "HMN 7A" RELATED [OMIM:158580] -synonym: "HMN7A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158580] +synonym: "Dhmn7A" RELATED [] +synonym: "Dhmnvp" RELATED [] +synonym: "Harper-Young myopathy" RELATED [] +synonym: "HMN 7A" RELATED [] +synonym: "HMN7A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "neuronopathy, distal hereditary motor caused by mutation in SLC5A7" EXACT [MONDO:design_pattern] -synonym: "neuronopathy, distal hereditary motor, type VIIA" RELATED [MONDO:Lexical, OMIM:158580] -synonym: "neuropathy, distal hereditary motor, type 7A" RELATED [OMIM:158580] +synonym: "neuronopathy, distal hereditary motor, type VIIA" RELATED [MONDO:Lexical] +synonym: "neuropathy, distal hereditary motor, type 7A" RELATED [] synonym: "SLC5A7 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spinal muscular atrophy, distal, with vocal cord paralysis" RELATED [OMIM:158580] +synonym: "spinal muscular atrophy, distal, with vocal cord paralysis" RELATED [] xref: DOID:0111201 {source="MONDO:equivalentObsolete"} xref: GARD:18269 {source="MONDO:GARD"} xref: MEDGEN:322474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -165212,14 +165231,14 @@ def: "Any neuronopathy, distal hereditary motor in which the cause of the diseas subset: gard_rare {source="GARD:18262", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Charcot-Marie-Tooth disease, spinal, 2A" RELATED [OMIM:158590] -synonym: "HMN 2A" RELATED [OMIM:158590] -synonym: "HMN2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158590] +synonym: "Charcot-Marie-Tooth disease, spinal, 2A" RELATED [] +synonym: "HMN 2A" RELATED [] +synonym: "HMN2A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HSPB8 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB8" EXACT [MONDO:design_pattern] -synonym: "neuronopathy, distal hereditary motor, type IIA" RELATED [MONDO:Lexical, OMIM:158590] -synonym: "neuropathy, distal hereditary motor, type 2A" RELATED [OMIM:158590] -synonym: "spinal muscular atrophy, distal, adult, autosomal dominant, 2A" RELATED [OMIM:158590] +synonym: "neuronopathy, distal hereditary motor, type IIA" RELATED [MONDO:Lexical] +synonym: "neuropathy, distal hereditary motor, type 2A" RELATED [] +synonym: "spinal muscular atrophy, distal, adult, autosomal dominant, 2A" RELATED [] xref: DOID:0111208 {source="MONDO:equivalentObsolete"} xref: GARD:18262 {source="MONDO:GARD"} xref: MEDGEN:322471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -165242,14 +165261,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:209341"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Kugelberg-Welander syndrome, autosomal dominant" RELATED [OMIM:158600] -synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures" EXACT [Orphanet:209341] -synonym: "Sma-led" RELATED [OMIM:158600] +synonym: "Kugelberg-Welander syndrome, autosomal dominant" RELATED [] +synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures" EXACT [] +synonym: "Sma-led" RELATED [] synonym: "SMALED1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:158600, Orphanet:209341] -synonym: "spinal muscular atrophy, childhood, proximal, autosomal dominant" RELATED [OMIM:158600] -synonym: "spinal muscular atrophy, juvenile, proximal, autosomal dominant" RELATED [OMIM:158600] -synonym: "spinal muscular atrophy, lower extremity-predominant 1, AD" EXACT [OMIM:158600, OMIM:genemap2] -synonym: "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:158600] +synonym: "spinal muscular atrophy, childhood, proximal, autosomal dominant" RELATED [] +synonym: "spinal muscular atrophy, juvenile, proximal, autosomal dominant" RELATED [] +synonym: "spinal muscular atrophy, lower extremity-predominant 1, AD" EXACT [] +synonym: "spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant" RELATED [MONDO:Lexical] xref: DOID:0070351 {source="MONDO:equivalentTo"} xref: GARD:13519 {source="MONDO:GARD"} xref: ICD10CM:G12.1 {source="Orphanet:209341", source="Orphanet:209341/attributed", source="Orphanet:209341/ntbt"} @@ -165298,11 +165317,11 @@ subset: orphanet_rare {source="Orphanet:610"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "benign autosomal dominant myopathy" EXACT [Orphanet:610] +synonym: "benign autosomal dominant myopathy" EXACT [] synonym: "benign congenital muscular dystrophy" EXACT [DOID:0050663] -synonym: "Bethlem myopathy 1" RELATED [MONDO:Lexical, OMIM:158810] -synonym: "Bethlem myopathy type 1" EXACT [MONDORULE:1, OMIM:158810] -synonym: "BTHLM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158810] +synonym: "Bethlem myopathy 1" RELATED [MONDO:Lexical] +synonym: "Bethlem myopathy type 1" EXACT [MONDORULE:1] +synonym: "BTHLM1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050663 {source="MONDO:equivalentTo"} xref: GARD:873 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:610", source="Orphanet:610/attributed", source="Orphanet:610/ntbt"} @@ -165330,25 +165349,25 @@ def: "Any facioscapulohumeral muscular dystrophy in which the cause of the disea subset: gard_rare {source="GARD:15087", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles" RELATED [MESH:C536391, OMIM:158900] +synonym: "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles" RELATED [MESH:C536391] synonym: "facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included" RELATED [MESH:C536391] -synonym: "facioscapulohumeral muscular dystrophy" BROAD [MESH:C536391, OMIM:158900] -synonym: "facioscapulohumeral muscular dystrophy 1" EXACT [MESH:C536391, MONDO:Lexical, OMIM:158900] +synonym: "facioscapulohumeral muscular dystrophy" BROAD [MESH:C536391] +synonym: "facioscapulohumeral muscular dystrophy 1" EXACT [DOID:0111192, MESH:C536391, MONDO:Lexical, NCIT:C172704, OMIM:158900] synonym: "facioscapulohumeral muscular dystrophy 1A" RELATED [GARD:0009941] synonym: "facioscapulohumeral muscular dystrophy caused by mutation in FRG1" EXACT [MONDO:design_pattern] -synonym: "facioscapulohumeral muscular dystrophy type 1" EXACT [MONDORULE:1, OMIM:158900] -synonym: "facioscapulohumeral muscular dystrophy, infantile" RELATED [MESH:C536391, OMIM:158900] +synonym: "facioscapulohumeral muscular dystrophy type 1" EXACT [DOID:0111192, MONDORULE:1] +synonym: "facioscapulohumeral muscular dystrophy, infantile" RELATED [MESH:C536391] synonym: "FMD" BROAD ABBREVIATION [MESH:C536391] synonym: "FRG1 facioscapulohumeral muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "FSHD" BROAD ABBREVIATION [GARD:0009941, MESH:C536391] -synonym: "FSHD1" RELATED ABBREVIATION [MESH:C536391, MONDO:Lexical, OMIM:158900] +synonym: "FSHD1" RELATED ABBREVIATION [MESH:C536391, MONDO:Lexical] synonym: "FSHD1A" RELATED ABBREVIATION [GARD:0009941, MESH:C536391] synonym: "FSHMD1A" RELATED ABBREVIATION [GARD:0009941, MESH:C536391] -synonym: "Landouzy-Dejerine muscular dystrophy" RELATED [GARD:0009941, MESH:C536391, OMIM:158900] +synonym: "Landouzy-Dejerine muscular dystrophy" RELATED [GARD:0009941, MESH:C536391] synonym: "Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included" RELATED [MESH:C536391] synonym: "muscular dystrophy, facioscapulohumeral" RELATED [GARD:0009941] -synonym: "muscular dystrophy, facioscapulohumeral, type 1" RELATED [MESH:C536391, OMIM:158900] -synonym: "muscular dystrophy, facioscapulohumeral, type 1A" NARROW [GARD:0009941, MESH:C536391, OMIM:158900] +synonym: "muscular dystrophy, facioscapulohumeral, type 1" RELATED [MESH:C536391] +synonym: "muscular dystrophy, facioscapulohumeral, type 1A" NARROW [GARD:0009941, MESH:C536391] xref: DOID:0111192 {source="MONDO:equivalentTo"} xref: GARD:15087 {source="MONDO:GARD"} xref: MEDGEN:1727901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -165370,15 +165389,15 @@ def: "Any facioscapulohumeral muscular dystrophy in which the cause of the disea subset: gard_rare {source="GARD:15088", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "facioscapulohumeral muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:158901] -synonym: "facioscapulohumeral muscular dystrophy 2, digenic" RELATED [OMIM:158901] +synonym: "facioscapulohumeral muscular dystrophy 2" EXACT [DOID:0111193, MONDO:Lexical, NCIT:C172705] +synonym: "facioscapulohumeral muscular dystrophy 2, digenic" RELATED [] synonym: "facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1" EXACT [MONDO:design_pattern] -synonym: "facioscapulohumeral muscular dystrophy type 2" EXACT [MONDORULE:1, OMIM:158901] -synonym: "fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant" EXACT [OMIM:158901, OMIM:genemap2] -synonym: "FSHD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:158901] -synonym: "Fshd2, digenic" RELATED [OMIM:158901] -synonym: "muscular dystrophy, facioscapulohumeral, type 1B" RELATED [OMIM:158901] -synonym: "muscular dystrophy, facioscapulohumeral, type 2" RELATED [OMIM:158901] +synonym: "facioscapulohumeral muscular dystrophy type 2" EXACT [DOID:0111193, MONDORULE:1] +synonym: "fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant" EXACT [] +synonym: "FSHD2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Fshd2, digenic" RELATED [] +synonym: "muscular dystrophy, facioscapulohumeral, type 1B" RELATED [] +synonym: "muscular dystrophy, facioscapulohumeral, type 2" RELATED [] synonym: "SMCHD1 facioscapulohumeral muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111193 {source="MONDO:equivalentTo"} xref: GARD:15088 {source="MONDO:GARD"} @@ -165443,7 +165462,7 @@ id: MONDO:0008036 name: myasthenia, limb-girdle, autoimmune subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "myasthenia gravis, limb-girdle" RELATED [OMIM:159400] +synonym: "myasthenia gravis, limb-girdle" RELATED [] synonym: "myasthenia, limb-girdle, autoimmune" EXACT [OMIM:159400] xref: MEDGEN:331795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563552 {source="MONDO:equivalentTo"} @@ -165472,8 +165491,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2585"} subset: orphanet_rare {source="Orphanet:2585"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ataxia-pancytopenia syndrome" EXACT [OMIM:159550] -synonym: "ATXPC" RELATED ABBREVIATION [OMIM:159550] +synonym: "ataxia-pancytopenia syndrome" EXACT [NCIT:C176909, OMIM:159550, Orphanet:2585] +synonym: "ATXPC" RELATED ABBREVIATION [] synonym: "myelocerebellar disorder" EXACT [OMIM:159550, Orphanet:2585] xref: GARD:3865 {source="MONDO:GARD"} xref: ICD10CM:D61.0 {source="Orphanet:2585/attributed", source="Orphanet:2585/ntbt", source="MONDO:relatedTo", source="Orphanet:2585"} @@ -165499,9 +165518,10 @@ subset: ordo_disorder {source="Orphanet:289326"} subset: orphanet_rare {source="Orphanet:289326"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial spastic paraparesis, HTLV-1-associated" RELATED [OMIM:159580] -synonym: "ham" RELATED [MONDO:Lexical, OMIM:159580] -synonym: "ham/TSP" EXACT [Orphanet:289326] +synonym: "familial spastic paraparesis, HTLV-1-associated" RELATED [] +synonym: "ham" RELATED [MONDO:Lexical] +synonym: "HAM/TSP" EXACT ABBREVIATION [Orphanet:289326] +synonym: "ham/TSP" EXACT [] synonym: "HTLV-1 associated myelopathy/tropical spastic paraparesis" RELATED [GARD:0008208] synonym: "HTLV-1-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326] synonym: "HTLV-associated myelopathy" EXACT [DOID:321] @@ -165509,10 +165529,10 @@ synonym: "Human T-cell leukaemia virus type 1 associated myelopathy/tropical spa synonym: "Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis" RELATED [GARD:0008208] synonym: "Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326] synonym: "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis" EXACT [Orphanet:289326] -synonym: "myelopathy, HTLV-1-associated" RELATED [MONDO:Lexical, OMIM:159580] +synonym: "myelopathy, HTLV-1-associated" RELATED [MONDO:Lexical] synonym: "tropical spastic paralysis" EXACT [DOID:321] synonym: "tropical spastic paraparesis (formerly)" RELATED [GARD:0008208] -synonym: "tropical spastic paraplegia" EXACT [DOID:321] +synonym: "tropical spastic paraplegia" EXACT [DOID:321, icd11.foundation:1043229589] synonym: "TSP" EXACT ABBREVIATION [Orphanet:289326] xref: DOID:321 {source="MONDO:equivalentTo", source="EFO:0007527"} xref: EFO:0007527 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -165545,21 +165565,21 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:420611"} subset: orphanet_rare {source="Orphanet:420611"} subset: rare -synonym: "leukemia, transient" RELATED [OMIM:159595] -synonym: "leukemia, transient, of Down syndrome" EXACT [OMIM:159595, OMIM:genemap2] -synonym: "MST" EXACT ABBREVIATION [DOID:0060888] -synonym: "Mst" RELATED [OMIM:159595] -synonym: "myeloproliferative syndrome, transient" RELATED [OMIM:159595] -synonym: "TAM" EXACT ABBREVIATION [DOID:0060888] +synonym: "leukemia, transient" RELATED [] +synonym: "leukemia, transient, of Down syndrome" EXACT [] +synonym: "MST" EXACT ABBREVIATION [DOID:0060888, OMIM:159595] +synonym: "Mst" RELATED [] +synonym: "myeloproliferative syndrome, transient" RELATED [] +synonym: "TAM" EXACT ABBREVIATION [DOID:0060888, NCIT:C82339] synonym: "TMD" EXACT ABBREVIATION [Orphanet:420611] -synonym: "transient abnormal myelopoiesis" EXACT [DOID:0060888, OMIM:159595, Orphanet:420611] +synonym: "transient abnormal myelopoiesis" EXACT [DOID:0060888, NCIT:C82339, OMIM:159595, Orphanet:420611] synonym: "Transient abnormal myelopoiesis associated with Down syndrome" EXACT [NCIT:C82339] synonym: "transient leukaemia" EXACT OMO:0003005 [] synonym: "transient leukemia" EXACT [DOID:0060888] -synonym: "transient leurkemia of Down syndrome" EXACT [DOID:0060888] +synonym: "transient leurkemia of Down syndrome" EXACT [] synonym: "transient myeloproliferative disease" EXACT [DOID:0060888, Orphanet:420611] synonym: "transient myeloproliferative disorder" EXACT [NCIT:C82339] -synonym: "transient myeloproliferative syndrome" EXACT [MONDO:ambiguous] +synonym: "transient myeloproliferative syndrome" EXACT [DOID:0060888, MONDO:ambiguous, Orphanet:420611] synonym: "transient myeloproliferative syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060888 {source="MONDO:equivalentTo"} xref: GARD:12765 {source="MONDO:GARD"} @@ -165611,7 +165631,7 @@ subset: orphanet_rare {source="Orphanet:2589"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "myoclonus cerebellar ataxia deafness" RELATED [GARD:0003873] -synonym: "myoclonus, cerebellar ataxia, and deafness" RELATED [OMIM:159800] +synonym: "myoclonus, cerebellar ataxia, and deafness" RELATED [] xref: GARD:3873 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:2589", source="Orphanet:2589/attributed", source="Orphanet:2589/ntbt"} xref: MEDGEN:331780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -165628,16 +165648,16 @@ def: "Any myoclonus-dystonia syndrome in which the cause of the disease is a mut subset: gard_rare {source="GARD:18616", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "alcohol-responsive dystonia" EXACT [Orphanet:36899] -synonym: "dystonia 11, myoclonic" RELATED [MONDO:Lexical, OMIM:159900] -synonym: "dystonia, alcohol-responsive" RELATED [OMIM:159900] -synonym: "dystonia-11, myoclonic" EXACT [OMIM:159900, OMIM:genemap2] -synonym: "DYT11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:159900] -synonym: "myoclonic dystonia" RELATED [OMIM:159900] -synonym: "myoclonic dystonia 11" EXACT CLINGEN_LABEL [] -synonym: "myoclonic dystonia type 11" EXACT [DOID:0090034, MONDORULE:2] -synonym: "myoclonus, hereditary essential" RELATED [OMIM:159900] -synonym: "myoclonus-dystonia syndrome" RELATED [OMIM:159900] +synonym: "alcohol-responsive dystonia" EXACT [] +synonym: "dystonia 11, myoclonic" RELATED [MONDO:Lexical] +synonym: "dystonia, alcohol-responsive" RELATED [] +synonym: "dystonia-11, myoclonic" EXACT [] +synonym: "DYT11" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myoclonic dystonia" RELATED [] +synonym: "myoclonic dystonia 11" EXACT CLINGEN_LABEL [DOID:0090034] +synonym: "myoclonic dystonia type 11" EXACT [MONDORULE:2] +synonym: "myoclonus, hereditary essential" RELATED [] +synonym: "myoclonus-dystonia syndrome" RELATED [] synonym: "myoclonus-dystonia syndrome caused by mutation in SGCE" EXACT [] synonym: "SGCE myoclonus-dystonia syndrome" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0090034 {source="MONDO:equivalentTo"} @@ -165665,13 +165685,13 @@ subset: orphanet_rare {source="Orphanet:2590"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary myoclonus and progressive distal muscular atrophy" RELATED [GARD:0003044] -synonym: "hereditary myoclonus-progressive distal muscular atrophy syndrome" EXACT [Orphanet:2590] +synonym: "hereditary myoclonus-progressive distal muscular atrophy syndrome" EXACT [DOID:0111527, Orphanet:2590] synonym: "Jankovic Rivera syndrome" RELATED [GARD:0003044] -synonym: "Jankovic-Rivera syndrome" EXACT [Orphanet:2590] +synonym: "Jankovic-Rivera syndrome" EXACT [DOID:0111527, Orphanet:2590] synonym: "myoclonus hereditary progressive distal muscular atrophy" RELATED [GARD:0003875] -synonym: "myoclonus, hereditary, with progressive distal muscular atrophy" RELATED [OMIM:159950] -synonym: "SMAPME" RELATED ABBREVIATION [MONDO:Lexical, OMIM:159950] -synonym: "spinal muscular atrophy with progressive myoclonic epilepsy" RELATED [MONDO:Lexical, OMIM:159950] +synonym: "myoclonus, hereditary, with progressive distal muscular atrophy" RELATED [] +synonym: "SMAPME" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spinal muscular atrophy with progressive myoclonic epilepsy" RELATED [MONDO:Lexical] xref: DOID:0111527 {source="MONDO:equivalentTo"} xref: GARD:3875 {source="MONDO:GARD"} xref: ICD10CM:G25.3 {source="Orphanet:2590/attributed", source="Orphanet:2590/ntbt", source="Orphanet:2590"} @@ -165727,24 +165747,24 @@ subset: orphanet_rare {source="Orphanet:37612"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acetazolamide-responsive periodic ataxia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/] -synonym: "ataxia, episodic, with myokymia" RELATED [OMIM:160120] +synonym: "ataxia, episodic, with myokymia" RELATED [] synonym: "continuous muscle fiber activity" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/] -synonym: "continuous muscle fiber activity, hereditary" RELATED [OMIM:160120] +synonym: "continuous muscle fiber activity, hereditary" RELATED [] synonym: "continuous muscle fibre activity" EXACT OMO:0003005 [] synonym: "continuous muscle fibre activity, hereditary" RELATED OMO:0003005 [] -synonym: "EA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160120] +synonym: "EA1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "episodic ataxia with myokymia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/, OMIM:160120, Orphanet:37612] -synonym: "episodic ataxia, type 1" RELATED [MONDO:Lexical, OMIM:160120] -synonym: "episodic ataxia/myokymia syndrome" EXACT [OMIM:160120, OMIM:genemap2] +synonym: "episodic ataxia, type 1" RELATED [MONDO:Lexical] +synonym: "episodic ataxia/myokymia syndrome" EXACT [] synonym: "familial paroxysmal kinesigenic ataxia and continuous myokymia" EXACT [] synonym: "hereditary episodic ataxia caused by mutation in KCNA1" EXACT [MONDO:design_pattern] synonym: "hereditary paroxysmal ataxia with neuromyotonia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK25442/] -synonym: "Isaacs-Mertens syndrome" RELATED [https://www.ncbi.nlm.nih.gov/books/NBK25442/, OMIM:160120] +synonym: "Isaacs-Mertens syndrome" RELATED [https://www.ncbi.nlm.nih.gov/books/NBK25442/] synonym: "KCNA1 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "myokymia 1" RELATED [OMIM:160120] -synonym: "myokymia 1 with or without hypomagnesemia" RELATED [OMIM:160120] -synonym: "myokymia with periodic ataxia" RELATED [OMIM:160120] -synonym: "paroxysmal ataxia with neuromyotonia, hereditary" RELATED [OMIM:160120] +synonym: "myokymia 1" RELATED [] +synonym: "myokymia 1 with or without hypomagnesemia" RELATED [] +synonym: "myokymia with periodic ataxia" RELATED [] +synonym: "paroxysmal ataxia with neuromyotonia, hereditary" RELATED [] xref: DOID:0050989 {source="MONDO:equivalentTo"} xref: GARD:16641 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:37612/attributed", source="Orphanet:37612/ntbt", source="Orphanet:37612"} @@ -165774,20 +165794,20 @@ subset: orphanet_rare {source="Orphanet:169189"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "AD-CNM" EXACT [Orphanet:169189] -synonym: "autosomal dominant centronuclear myopathy" EXACT CLINGEN_LABEL [] +synonym: "AD-CNM" EXACT ABBREVIATION [DOID:0111217, Orphanet:169189] +synonym: "autosomal dominant centronuclear myopathy" EXACT CLINGEN_LABEL [DOID:0111217, Orphanet:169189] synonym: "autosomal dominant centronuclear myopathy caused by mutation in MYF6" EXACT [MONDO:design_pattern] -synonym: "centronuclear myopathy 1" EXACT [NCIT:C126689] +synonym: "centronuclear myopathy 1" EXACT [DOID:0111223, NCIT:C126689] synonym: "centronuclear myopathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -synonym: "centronuclear myopathy, autosomal, modifier of" EXACT [OMIM:160150, OMIM:genemap2] -synonym: "CNM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160150] -synonym: "CNM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614408] +synonym: "centronuclear myopathy, autosomal, modifier of" EXACT [] +synonym: "CNM1" EXACT ABBREVIATION [DOID:0111223, MONDO:Lexical, NCIT:C126689, OMIM:160150] +synonym: "CNM3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "DNM2-related centronuclear myopathy" RELATED [GARD:0012719] synonym: "myopathy, centronuclear, 1" EXACT [GARD:0012719, MONDO:Lexical, OMIM:160150] -synonym: "myopathy, centronuclear, 3" EXACT [MONDO:Lexical, OMIM:614408] +synonym: "myopathy, centronuclear, 3" EXACT [MONDO:Lexical] synonym: "myopathy, centronuclear, autosomal dominant" EXACT [OMIM:160150] -synonym: "myopathy, centronuclear, type 1" EXACT [MONDORULE:1, OMIM:160150] -synonym: "myopathy, centronuclear, type 3" EXACT [MONDORULE:1, OMIM:614408] +synonym: "myopathy, centronuclear, type 1" EXACT [MONDORULE:1] +synonym: "myopathy, centronuclear, type 3" EXACT [MONDORULE:1] synonym: "myotubular myopathy, autosomal dominant" EXACT [OMIM:160150] xref: DOID:0111217 {source="MONDO:equivalentTo"} xref: DOID:0111223 {source="MONDO:equivalentTo"} @@ -165835,17 +165855,17 @@ subset: ordo_disorder {source="Orphanet:59135"} subset: orphanet_rare {source="Orphanet:59135"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "distal myopathy type 1" EXACT [Orphanet:59135] -synonym: "Gowers disease" EXACT [Orphanet:59135] -synonym: "Laing distal myopathy" EXACT [OMIM:160500] -synonym: "Laing early-onset distal myopathy" EXACT [Orphanet:59135] -synonym: "MPD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160500, Orphanet:59135] +synonym: "distal myopathy type 1" EXACT [DOID:0070197, Orphanet:59135] +synonym: "Gowers disease" EXACT [DOID:0070197, Orphanet:59135] +synonym: "Laing distal myopathy" EXACT [DOID:0070197, OMIM:160500] +synonym: "Laing early-onset distal myopathy" EXACT [DOID:0070197, Orphanet:59135] +synonym: "MPD1" EXACT ABBREVIATION [DOID:0070197, MONDO:Lexical, OMIM:160500, Orphanet:59135] synonym: "MYH7-related skeletal myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40031/, PMID:22918376, PMID:24664454] synonym: "myopathy distal, type 1" RELATED [GARD:0010769] -synonym: "myopathy, distal, 1" RELATED [MONDO:Lexical, OMIM:160500] -synonym: "myopathy, distal, early-onset, autosomal dominant" RELATED [OMIM:160500] -synonym: "myopathy, distal, type 1" EXACT [MONDORULE:1, OMIM:160500] -synonym: "myopathy, late distal hereditary" RELATED [OMIM:160500] +synonym: "myopathy, distal, 1" RELATED [MONDO:Lexical] +synonym: "myopathy, distal, early-onset, autosomal dominant" RELATED [] +synonym: "myopathy, distal, type 1" EXACT [MONDORULE:1] +synonym: "myopathy, late distal hereditary" RELATED [] synonym: "myosin storage myopathy" RELATED [PMID:22918376, PMID:24664454] xref: DOID:0070197 {source="MONDO:equivalentTo"} xref: GARD:10769 {source="MONDO:GARD"} @@ -165873,10 +165893,10 @@ subset: orphanet_rare {source="Orphanet:2593"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "myopathy, tubular aggregate, 1" RELATED [MONDO:Lexical, OMIM:160565] -synonym: "myopathy, tubular aggregate, type 1" EXACT [MONDORULE:1, OMIM:160565] -synonym: "TAM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160565] -synonym: "tubular aggregate myopathy" EXACT CLINGEN_LABEL [] +synonym: "myopathy, tubular aggregate, 1" RELATED [MONDO:Lexical] +synonym: "myopathy, tubular aggregate, type 1" EXACT [MONDORULE:1] +synonym: "TAM1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "tubular aggregate myopathy" EXACT CLINGEN_LABEL [Orphanet:2593] xref: DOID:0080089 {source="MONDO:equivalentTo"} xref: GARD:3884 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:2593/attributed", source="Orphanet:2593/ntbt", source="Orphanet:2593"} @@ -165922,17 +165942,17 @@ subset: orphanet_rare {source="Orphanet:93672"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "childhood dermatomyositis" EXACT [DOID:14203, NCIT:C27576] -synonym: "childhood type dermatomyositis" RELATED [DOID:14203] +synonym: "childhood type dermatomyositis" RELATED [] synonym: "inflammation of myoseptum" EXACT [] synonym: "JDM" RELATED ABBREVIATION [GARD:0006805] synonym: "JPM" RELATED ABBREVIATION [GARD:0006805] -synonym: "juvenile dermatomyositis" EXACT [DOID:14203, MONDO:0005054] +synonym: "juvenile dermatomyositis" EXACT [DOID:14203, icd11.foundation:1428089375, MONDO:0005054, NCIT:C27576, Orphanet:93672] synonym: "juvenile DM" EXACT [Orphanet:93672] synonym: "juvenile myositis" RELATED [GARD:0006805] -synonym: "myopathy, familial idiopathic inflammatory" RELATED [OMIM:160750] +synonym: "myopathy, familial idiopathic inflammatory" RELATED [] synonym: "myoseptum inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "myoseptumitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "myositis" RELATED [OMIM:160750] +synonym: "myositis" RELATED [] xref: DOID:14203 {source="MONDO:equivalentTo", source="EFO:0000557"} xref: EFO:0000557 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6805 {source="MONDO:GARD"} @@ -165959,13 +165979,13 @@ id: MONDO:0008055 name: myotonia congenita, autosomal dominant subset: gard_rare {source="GARD:6176", source="MONDO:GARD"} subset: rare -synonym: "congenital myotonia, autosomal dominant form" EXACT [DOID:2106] +synonym: "congenital myotonia, autosomal dominant form" EXACT [DOID:0081336] synonym: "myotonia congenita, autosomal dominant" EXACT [OMIM:160800] -synonym: "myotonia congenita, dominant" EXACT [OMIM:160800, OMIM:genemap2] -synonym: "myotonia Levior" RELATED [OMIM:160800] -synonym: "Thomsen and Becker disease" BROAD [Orphanet:614] -synonym: "Thomsen disease" EXACT [DOID:2106, OMIM:160800] -synonym: "Thomsen's disease" EXACT [DOID:2106] +synonym: "myotonia congenita, dominant" EXACT [] +synonym: "myotonia Levior" RELATED [] +synonym: "Thomsen and Becker disease" BROAD [] +synonym: "Thomsen disease" EXACT [DOID:0081336, OMIM:160800] +synonym: "Thomsen's disease" EXACT [DOID:0081336] xref: DOID:0081336 {source="MONDO:equivalentTo"} xref: GARD:6176 {source="MONDO:GARD"} xref: ICD9:359.29 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -165989,22 +166009,22 @@ subset: ordo_disorder {source="Orphanet:273"} subset: orphanet_rare {source="Orphanet:273"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital myotonic dystrophy" RELATED EXCLUDE [DOID:11722] -synonym: "DM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160900, Orphanet:273] +synonym: "congenital myotonic dystrophy" RELATED EXCLUDE [] +synonym: "DM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:160900] synonym: "DMPK myotonic dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "dystrophia myotonica" EXACT [DOID:11722, OMIM:160900] -synonym: "dystrophia myotonica 1" RELATED [OMIM:160900] +synonym: "dystrophia myotonica 1" RELATED [] synonym: "dystrophia myotonica type 1" RELATED [GARD:0008310] -synonym: "MD1" EXACT ABBREVIATION [Orphanet:273] +synonym: "MD1" EXACT ABBREVIATION [] synonym: "Myotonic Dystrophy" EXACT [NORD:1075] -synonym: "myotonic dystrophy 1" RELATED [MONDO:Lexical, OMIM:160900] +synonym: "myotonic dystrophy 1" RELATED [MONDO:Lexical] synonym: "myotonic dystrophy caused by mutation in DMPK" EXACT [MONDO:design_pattern] synonym: "myotonic dystrophy of Steinert" EXACT [DOID:11722] -synonym: "myotonic dystrophy type 1" EXACT [MONDORULE:1, OMIM:160900, Orphanet:273] -synonym: "Steinert disease" EXACT [DOID:11722, OMIM:160900, Orphanet:273] -synonym: "Steinert myotonic dystrophy" RELATED [Orphanet:273] -synonym: "Steinert myotonic dystrophy syndrome" EXACT [NCIT:C84679] -synonym: "Steinert syndrome" EXACT [NCIT:C84679] +synonym: "myotonic dystrophy type 1" EXACT [DOID:11722, icd11.foundation:557405480, MONDORULE:1, Orphanet:273] +synonym: "Steinert disease" EXACT [DOID:11722, icd11.foundation:557405480, NCIT:C84679, OMIM:160900, Orphanet:273] +synonym: "Steinert myotonic dystrophy" RELATED [] +synonym: "Steinert myotonic dystrophy syndrome" EXACT [icd11.foundation:557405480, NCIT:C84679] +synonym: "Steinert syndrome" EXACT [icd11.foundation:557405480, NCIT:C84679] synonym: "Steinert's disease" RELATED [GARD:0008310] xref: DOID:11722 {source="MONDO:equivalentTo"} xref: GARD:8310 {source="MONDO:GARD"} @@ -166044,12 +166064,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Carney complex caused by mutation in PRKAR1A" EXACT [MONDO:design_pattern] synonym: "Carney complex, type 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:160980] -synonym: "Carney Myxoma-endocrine Complex" RELATED [OMIM:160980] -synonym: "Carney syndrome" RELATED [OMIM:160980] -synonym: "CNC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:160980] -synonym: "lamb syndrome" RELATED [OMIM:160980] -synonym: "myxoma, spotty pigmentation, and endocrine overactivity" RELATED [OMIM:160980] -synonym: "name syndrome" RELATED [OMIM:160980] +synonym: "Carney Myxoma-endocrine Complex" RELATED [] +synonym: "Carney syndrome" RELATED [] +synonym: "CNC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lamb syndrome" RELATED [] +synonym: "myxoma, spotty pigmentation, and endocrine overactivity" RELATED [] +synonym: "name syndrome" RELATED [] synonym: "PRKAR1A Carney complex" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15090 {source="MONDO:GARD"} xref: MEDGEN:388559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -166071,7 +166091,7 @@ subset: gard_rare {source="GARD:11906", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:171886"} subset: orphanet_rare {source="Orphanet:171886"} subset: rare -synonym: "myotonic myopathy with cylindrical spirals" RELATED [OMIM:160990] +synonym: "myotonic myopathy with cylindrical spirals" RELATED [] xref: DOID:0080103 {source="MONDO:equivalentTo"} xref: GARD:11906 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:171886/attributed", source="Orphanet:171886/ntbt", source="Orphanet:171886"} @@ -166095,13 +166115,13 @@ subset: ordo_disorder {source="Orphanet:69087"} subset: orphanet_rare {source="Orphanet:69087"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NAEGELI syndrome" RELATED [OMIM:161000] -synonym: "Naegeli syndrome" EXACT [Orphanet:69087] -synonym: "NAEGELI-Franceschetti-Jadassohn syndrome" RELATED [OMIM:161000] -synonym: "Naegeli-Franceschetti-Jadassohn syndrome" EXACT [OMIM:161000] -synonym: "NFJ syndrome" EXACT [Orphanet:69087] -synonym: "Nfj syndrome" RELATED [OMIM:161000] -synonym: "NFJS" RELATED ABBREVIATION [GARD:0003912, OMIM:161000] +synonym: "NAEGELI syndrome" RELATED [] +synonym: "Naegeli syndrome" EXACT [DOID:0111528, OMIM:161000, Orphanet:69087] +synonym: "NAEGELI-Franceschetti-Jadassohn syndrome" RELATED [] +synonym: "Naegeli-Franceschetti-Jadassohn syndrome" EXACT [DOID:0111528, icd11.foundation:352035640, OMIM:161000, Orphanet:69087] +synonym: "NFJ syndrome" EXACT [DOID:0111528, OMIM:161000, Orphanet:69087] +synonym: "Nfj syndrome" RELATED [] +synonym: "NFJS" RELATED ABBREVIATION [GARD:0003912] synonym: "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy" RELATED [GARD:0003912] xref: DOID:0111528 {source="MONDO:equivalentTo"} xref: GARD:3912 {source="MONDO:GARD"} @@ -166128,29 +166148,29 @@ subset: ordo_disorder {source="Orphanet:79153"} subset: orphanet_rare {source="Orphanet:79153"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant nail dysplasia" RELATED [Orphanet:79153] -synonym: "autosomal recessive nail dysplasia" RELATED [Orphanet:280654] -synonym: "claw-Shaped nails" RELATED [OMIM:614157] +synonym: "autosomal dominant nail dysplasia" RELATED [] +synonym: "autosomal recessive nail dysplasia" RELATED [] +synonym: "claw-Shaped nails" RELATED [] synonym: "FZD6 inherited isolated nail anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "idiopathic trachyonychia" RELATED [Orphanet:79153] +synonym: "idiopathic trachyonychia" RELATED [] synonym: "inherited isolated nail anomaly caused by mutation in FZD6" EXACT [MONDO:design_pattern] synonym: "nail disorder, nonsyndromic congenital 1" RELATED [GARD:0010363] -synonym: "nail disorder, nonsyndromic congenital, 1" RELATED [MONDO:Lexical, OMIM:161050] -synonym: "nail disorder, nonsyndromic congenital, 10" RELATED [MONDO:Lexical, OMIM:614157] -synonym: "nail disorder, nonsyndromic congenital, type 10" EXACT [MONDORULE:2, OMIM:614157] -synonym: "nail Growth" RELATED [OMIM:161050] -synonym: "NDNC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161050] -synonym: "NDNC10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614157] -synonym: "nonsyndromic congenital nail disorder 10" EXACT [MONDO:0013596] -synonym: "nonsyndromic congenital nail disorder type 1" EXACT [DOID:0080079, MONDORULE:1] -synonym: "nonsyndromic congenital nail disorder type 10" EXACT [DOID:0080088, MONDORULE:2] -synonym: "onychauxis, hyponychia, and onycholysis" RELATED [OMIM:614157] -synonym: "onychodystrophy totalis" EXACT [Orphanet:79153] -synonym: "onychodystrophy totalis, isolated" RELATED [OMIM:161050] +synonym: "nail disorder, nonsyndromic congenital, 1" RELATED [MONDO:Lexical] +synonym: "nail disorder, nonsyndromic congenital, 10" RELATED [MONDO:Lexical] +synonym: "nail disorder, nonsyndromic congenital, type 10" EXACT [MONDORULE:2] +synonym: "nail Growth" RELATED [] +synonym: "NDNC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "NDNC10" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nonsyndromic congenital nail disorder 10" EXACT [DOID:0080079, MONDO:0013596] +synonym: "nonsyndromic congenital nail disorder type 1" EXACT [MONDORULE:1] +synonym: "nonsyndromic congenital nail disorder type 10" EXACT [MONDORULE:2] +synonym: "onychauxis, hyponychia, and onycholysis" RELATED [] +synonym: "onychodystrophy totalis" EXACT [] +synonym: "onychodystrophy totalis, isolated" RELATED [] synonym: "sandpaper nails" RELATED [GARD:0010363] synonym: "trachyonychia" RELATED [GARD:0010363] synonym: "twenty nail dystrophy" RELATED [GARD:0010363] -synonym: "twenty-nail dystrophy" EXACT [DOID:0080079, OMIM:161050, Orphanet:79153] +synonym: "twenty-nail dystrophy" EXACT [DOID:0080079, OMIM:161050] xref: DOID:0080079 {source="MONDO:equivalentTo"} xref: DOID:0080088 {source="MONDO:equivalentObsolete"} xref: GARD:10363 {source="MONDO:GARD"} @@ -166184,14 +166204,14 @@ subset: orphanet_rare {source="Orphanet:2614"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arthro-onychodysplasia" RELATED [GARD:0007160] -synonym: "Fong disease" EXACT [DOID:9467] +synonym: "Fong disease" EXACT [DOID:9467, OMIM:161200] synonym: "hereditary onychoostedysplasia" EXACT [DOID:9467] synonym: "hereditary Osteo-onychodysplasia" EXACT [NCIT:C75120] synonym: "iliac horn syndrome" EXACT [DOID:9467] -synonym: "Nail Patella Syndrome" EXACT [NORD:1488] +synonym: "Nail Patella Syndrome" EXACT [DOID:9467, NORD:1488] synonym: "nail patella syndrome" EXACT [DOID:9467] -synonym: "nail-patella syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:161200] -synonym: "NPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161200] +synonym: "nail-patella syndrome" EXACT CLINGEN_LABEL [DOID:9467, icd11.foundation:1121867410, MONDO:Lexical, NCIT:C75120, OMIM:161200, Orphanet:2614] +synonym: "NPS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "NPS 1" EXACT [GARD:0007160] synonym: "NPS1" EXACT [OMIM:161200] synonym: "onychoosteodysplasia" EXACT [OMIM:161200, Orphanet:2614] @@ -166234,12 +166254,12 @@ def: "A rare disorder characterized by sudden and transient episodes of loss of subset: gard_rare {source="GARD:15091", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataplexy" RELATED [OMIM:161400] +synonym: "cataplexy" RELATED [] synonym: "HCRT narcolepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "narcolepsy 1" EXACT [MONDO:Lexical, OMIM:161400] synonym: "narcolepsy caused by mutation in HCRT" EXACT [MONDO:design_pattern] -synonym: "narcoleptic syndrome 1" RELATED [OMIM:161400] -synonym: "NRCLP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161400] +synonym: "narcoleptic syndrome 1" RELATED [] +synonym: "NRCLP1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15091 {source="MONDO:GARD"} xref: MEDGEN:371809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563534 {source="MONDO:equivalentTo"} @@ -166299,9 +166319,9 @@ subset: inferred_rare subset: predisposition subset: rare synonym: "nasopharyngeal carcinoma, susceptibility to, 2" EXACT [OMIM:161550] -synonym: "nasopharyngeal carcinoma, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:161550] -synonym: "NPCA2" RELATED ABBREVIATION [OMIM:161550] -synonym: "Npca2" RELATED [OMIM:161550] +synonym: "nasopharyngeal carcinoma, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "NPCA2" RELATED ABBREVIATION [] +synonym: "Npca2" RELATED [] xref: MEDGEN:413336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:161550 {source="MONDO:equivalentTo"} xref: Orphanet:150 {source="OMIM:161550"} @@ -166314,7 +166334,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008068 name: obsolete navicular bone, accessory comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "navicular bone, accessory" EXACT [OMIM:161600] +synonym: "navicular bone, accessory" EXACT [] xref: MESH:C536002 {source="MONDO:obsoleteEquivalent"} xref: OMIM:161600 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -166327,7 +166347,7 @@ name: necrotizing encephalomyelopathy, subacute, of Leigh, adult subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Leigh syndrome, adult" RELATED [OMIM:161700] +synonym: "Leigh syndrome, adult" RELATED [] synonym: "necrotizing encephalomyelopathy, subacute, of Leigh, adult" EXACT [OMIM:161700] xref: MEDGEN:331718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563530 {source="MONDO:equivalentTo"} @@ -166352,14 +166372,14 @@ synonym: "actin myopathy" EXACT [Orphanet:98904] synonym: "CMYO2A" EXACT ABBREVIATION [OMIM:161800] synonym: "congenital myopathy 2a, typical, autosomal dominant" EXACT [OMIM:161800] synonym: "congenital myopathy with excess of thin filaments" EXACT [MONDO:0020342, Orphanet:98904, SCTID:702349003] -synonym: "myopathy, actin, congenital, with cores" RELATED [OMIM:161800] -synonym: "myopathy, actin, congenital, with Excess of thin myofilaments" RELATED [OMIM:161800] -synonym: "NEM3" RELATED ABBREVIATION [DOID:0110927, MONDO:Lexical, OMIM:161800] -synonym: "nemaline myopathy 3" RELATED [MONDO:Lexical, NCIT:C129870, OMIM:161800] +synonym: "myopathy, actin, congenital, with cores" RELATED [] +synonym: "myopathy, actin, congenital, with Excess of thin myofilaments" RELATED [] +synonym: "NEM3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nemaline myopathy 3" RELATED [MONDO:Lexical] synonym: "nemaline myopathy 3, autosomal dominant or recessive" EXACT [DOID:0110927] -synonym: "nemaline myopathy 3, with intranuclear rods" RELATED [OMIM:161800] +synonym: "nemaline myopathy 3, with intranuclear rods" RELATED [] synonym: "nemaline myopathy caused by mutation in ACTA1" EXACT [MONDO:design_pattern] -synonym: "nemaline myopathy type 3" EXACT [DOID:0110927, MONDORULE:1, OMIM:161800] +synonym: "nemaline myopathy type 3" EXACT [MONDORULE:1] xref: DOID:0110927 {source="MONDO:equivalentTo"} xref: GARD:10111 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:98904/attributed", source="Orphanet:98904/ntbt", source="Orphanet:98904"} @@ -166397,12 +166417,12 @@ subset: ordo_disorder {source="Orphanet:88659"} subset: orphanet_rare {source="Orphanet:88659"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "nephritis, familial, without deafness or ocular defect" RELATED [OMIM:161900] -synonym: "nephropathy, familial" RELATED [OMIM:161900] -synonym: "nephropathy-hypertension" EXACT [OMIM:161900, OMIM:genemap2] -synonym: "renal failure, adult-onset" RELATED [OMIM:161900] -synonym: "renal failure, progressive, with hypertension" RELATED [MONDO:Lexical, OMIM:161900] -synonym: "RFH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:161900] +synonym: "nephritis, familial, without deafness or ocular defect" RELATED [] +synonym: "nephropathy, familial" RELATED [] +synonym: "nephropathy-hypertension" EXACT [] +synonym: "renal failure, adult-onset" RELATED [] +synonym: "renal failure, progressive, with hypertension" RELATED [MONDO:Lexical] +synonym: "RFH1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16772 {source="MONDO:GARD"} xref: ICD10CM:I15.1 {source="Orphanet:88659", source="Orphanet:88659/attributed", source="Orphanet:88659/ntbt"} xref: icd11.foundation:1997246041 {source="MONDO:equivalentTo"} @@ -166420,12 +166440,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008072 name: IgA nephropathy, susceptibility to, 1 subset: predisposition -synonym: "berger disease" RELATED [OMIM:161950] +synonym: "berger disease" RELATED [] synonym: "glomerulonephritis, IgA" RELATED [GARD:0000863] synonym: "IgA nephropathy, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:161950] -synonym: "Igan" RELATED [OMIM:161950] +synonym: "Igan" RELATED [] synonym: "IGAN1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:161950] -synonym: "nephritis, IgA type" RELATED [OMIM:161950] +synonym: "nephritis, IgA type" RELATED [] xref: MEDGEN:463619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:161950 {source="MONDO:equivalentTo"} xref: Orphanet:34145 {source="OMIM:161950"} @@ -166448,37 +166468,37 @@ subset: prototype_pattern subset: rare synonym: "ADMCKD2" RELATED ABBREVIATION [GARD:0010679] synonym: "ADTKD-UMOD" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/50066/, Orphanet:88950] -synonym: "autosomal dominant medullary cystic kidney disease type 2" EXACT [Orphanet:88950] +synonym: "autosomal dominant medullary cystic kidney disease type 2" EXACT [] synonym: "autosomal dominant medullary cystic kidney disease with hyperuricemia" EXACT [] synonym: "Autosomal Dominant Tubulo-Interstitial Kidney Disease" EXACT [NORD:827] synonym: "autosomal dominant tubulointerstitial kidney disease - UMOD" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40066/] synonym: "autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD" EXACT [https://clinicalgenome.org/affiliation/50066/] -synonym: "familial juvenile gouty nephropathy" BROAD [Orphanet:209886] +synonym: "familial juvenile gouty nephropathy" BROAD [] synonym: "familial juvenile hyperuricaemic nephropathy" RELATED [GARD:0006806] synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD" EXACT [MONDO:design_pattern] -synonym: "familial nephropathy with gout" BROAD [Orphanet:209886] -synonym: "FJHN type 1" EXACT [Orphanet:209886] -synonym: "glomerulocystic kidney disease with hyperuricemia and isosthenuria" EXACT [OMIM:609886] -synonym: "gouty nephropathy, familial juvenile" BROAD [OMIM:162000] -synonym: "HNFJ1" EXACT ABBREVIATION [OMIM:162000] -synonym: "hyperuricemic nephropathy, familial juvenile" BROAD [OMIM:162000] +synonym: "familial nephropathy with gout" BROAD [] +synonym: "FJHN type 1" EXACT [] +synonym: "glomerulocystic kidney disease with hyperuricemia and isosthenuria" EXACT [OMIM:162000] +synonym: "gouty nephropathy, familial juvenile" BROAD [] +synonym: "HNFJ1" EXACT ABBREVIATION [] +synonym: "hyperuricemic nephropathy, familial juvenile" BROAD [] synonym: "hyperuricemic nephropathy, familial juvenile, 1" EXACT [MONDO:Lexical, OMIM:162000] -synonym: "hyperuricemic nephropathy, familial juvenile, type 1" EXACT [MONDORULE:1, OMIM:162000] -synonym: "MCKD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603860] -synonym: "medullary cystic kidney disease 2" EXACT [MONDO:Lexical, OMIM:603860] -synonym: "medullary cystic kidney disease 2, autosomal dominant" RELATED [OMIM:603860] -synonym: "medullary cystic kidney disease type 2" EXACT [MONDORULE:1, OMIM:603860] +synonym: "hyperuricemic nephropathy, familial juvenile, type 1" EXACT [MONDORULE:1] +synonym: "MCKD2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "medullary cystic kidney disease 2" EXACT [MONDO:Lexical, OMIM:162000] +synonym: "medullary cystic kidney disease 2, autosomal dominant" RELATED [] +synonym: "medullary cystic kidney disease type 2" EXACT [MONDORULE:1, Orphanet:88950] synonym: "medullary cystic kidney disease type II" EXACT [NCIT:C123172] -synonym: "nephropathy, familial, with gout" BROAD [OMIM:162000] -synonym: "tubulointerstitial kidney disease, autosomal dominant, 1" EXACT [OMIM:162000, OMIM:genemap2] +synonym: "nephropathy, familial, with gout" BROAD [] +synonym: "tubulointerstitial kidney disease, autosomal dominant, 1" EXACT [OMIM:162000] synonym: "UMOD familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "UMOD-associated familial juvenile hyperuricemic nephropathy" EXACT [Orphanet:209886] -synonym: "UMOD-associated FJHN" EXACT [Orphanet:209886] +synonym: "UMOD-associated familial juvenile hyperuricemic nephropathy" EXACT [] +synonym: "UMOD-associated FJHN" EXACT [] synonym: "UMOD-related ADTKD" EXACT [Orphanet:88950] -synonym: "UMOD-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:88950] +synonym: "UMOD-related autosomal dominant tubulointerstitial kidney disease" RELATED [] synonym: "UMOD-related kidney disease" EXACT [GARD:0006806] synonym: "uromodulin storage disease" EXACT [] -synonym: "uromodulin-associated kidney disease" EXACT [GARD:0006806] +synonym: "uromodulin-associated kidney disease" EXACT [GARD:0006806, Orphanet:88950] xref: GARD:10679 {source="MONDO:GARD"} xref: ICD10CM:Q61.5 {source="Orphanet:88950", source="Orphanet:88950/attributed", source="Orphanet:88950/ntbt"} xref: MEDGEN:1645893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -166511,9 +166531,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6806/familia [Term] id: MONDO:0008074 name: obsolete nerve growth factor, alpha subunit -synonym: "nerve growth factor, ALPHA SUBUNIT" EXACT [OMIM:162020] -synonym: "nerve growth factor, alpha subunit" EXACT [MONDO:Lexical, OMIM:162020] -synonym: "NGFA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:162020] +synonym: "nerve growth factor, ALPHA SUBUNIT" EXACT [] +synonym: "nerve growth factor, alpha subunit" EXACT [MONDO:Lexical] +synonym: "NGFA" EXACT ABBREVIATION [MONDO:Lexical] xref: OMIM:162020 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3358" xsd:anyURI @@ -166530,15 +166550,15 @@ subset: orphanet_rare {source="Orphanet:93921"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital cutaneous neurilemmomatosis" RELATED [GARD:0004768] -synonym: "neurilemmomatosis" EXACT DEPRECATED [DOID:3204, Orphanet:93921, Wikipedia:Schwannomatosis] +synonym: "neurilemmomatosis" EXACT DEPRECATED [DOID:3204, NCIT:C6557, Orphanet:93921, Wikipedia:Schwannomatosis] synonym: "neurilemmomatosis congenital cutaneous" RELATED [GARD:0004768] -synonym: "neurilemmomatosis, congenital cutaneous" RELATED [OMIM:162091] +synonym: "neurilemmomatosis, congenital cutaneous" RELATED [] synonym: "neurinoma" RELATED DEPRECATED [Wikipedia:Schwannomatosis] -synonym: "Neurinomatosis" EXACT [NCIT:C6557] +synonym: "Neurinomatosis" EXACT [DOID:3204, NCIT:C6557] synonym: "neurofibromatosis type 3" EXACT [] -synonym: "NF3" EXACT ABBREVIATION [Orphanet:93921] -synonym: "Schwannomatosis" EXACT [Orphanet:93921] -synonym: "schwannomatosis" EXACT [MONDO:0002557] +synonym: "NF3" EXACT ABBREVIATION [] +synonym: "Schwannomatosis" EXACT [DOID:3204, NCIT:C6557, OMIMPS:162091] +synonym: "schwannomatosis" EXACT [DOID:3204, MONDO:0002557, NCIT:C6557, OMIMPS:162091] synonym: "schwannomatosis, NEC" NARROW [PMID:35674741] synonym: "schwannomatosis, NOS" NARROW [PMID:35674741] xref: DOID:3204 {source="MONDO:equivalentTo"} @@ -166573,8 +166593,8 @@ synonym: "amyotrophy, hereditary neuralgic, with predilection for brachial plexu synonym: "brachial plexus neuropathy, hereditary" EXACT [OMIM:162100] synonym: "hereditary brachial plexus neuropathy" EXACT [GARD:0003955] synonym: "hereditary neuralgic amyotrophy" EXACT [GARD:0003955] -synonym: "HNA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:162100] -synonym: "neuralgic amyotrophy" RELATED [DOID:10383, ICD9CM:353.5] +synonym: "HNA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "neuralgic amyotrophy" RELATED [ICD9CM:353.5] synonym: "neuritis with brachial predilection" EXACT [OMIM:162100] xref: DOID:10383 {source="MONDO:equivalentTo"} xref: GARD:3955 {source="MONDO:GARD"} @@ -166604,7 +166624,7 @@ name: neurofibromatosis, familial spinal subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Fsnf" RELATED [OMIM:162210] +synonym: "Fsnf" RELATED [] synonym: "neurofibromatosis, familial spinal" EXACT [OMIM:162210] xref: DOID:0070482 {source="MONDO:equivalentTo"} xref: MEDGEN:320296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -166619,9 +166639,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0008079 name: neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome -synonym: "duodenal carcinoid syndrome" RELATED [OMIM:162240] +synonym: "duodenal carcinoid syndrome" RELATED [] synonym: "neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome" EXACT [OMIM:162240] -synonym: "Npdc syndrome" RELATED [OMIM:162240] +synonym: "Npdc syndrome" RELATED [] xref: MEDGEN:331696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563522 {source="MONDO:equivalentTo"} xref: OMIM:162240 {source="MONDO:equivalentTo"} @@ -166634,12 +166654,12 @@ name: neurofibromatosis, type III, mixed central and peripheral subset: gard_rare {source="GARD:15094", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "neurofibromas, palmar cutaneous" RELATED [OMIM:162260] +synonym: "neurofibromas, palmar cutaneous" RELATED [] synonym: "neurofibromatosis, type III, mixed central and peripheral" EXACT [MONDO:Lexical, OMIM:162260] -synonym: "neurofibromatosis, type III, of Riccardi" RELATED [OMIM:162260] -synonym: "neurofibromatosis, type III, Riccardi type" RELATED [OMIM:162260] -synonym: "Nf 3" RELATED [OMIM:162260] -synonym: "NF3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:162260] +synonym: "neurofibromatosis, type III, of Riccardi" RELATED [] +synonym: "neurofibromatosis, type III, Riccardi type" RELATED [] +synonym: "Nf 3" RELATED [] +synonym: "NF3A" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15094 {source="MONDO:GARD"} xref: MEDGEN:419422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537389 {source="MONDO:equivalentTo"} @@ -166658,12 +166678,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "neurofibromatosis type 4" EXACT [] synonym: "neurofibromatosis type IV" EXACT [] -synonym: "neurofibromatosis, atypical" RELATED [OMIM:162270] -synonym: "neurofibromatosis, type IV, of RICCARDI" RELATED [OMIM:162270] +synonym: "neurofibromatosis, atypical" RELATED [] +synonym: "neurofibromatosis, type IV, of RICCARDI" RELATED [] synonym: "neurofibromatosis, type IV, of Riccardi" EXACT [MONDO:Lexical, OMIM:162270] -synonym: "neurofibromatosis, variant form(S) of" RELATED [OMIM:162270] -synonym: "Nf 4" RELATED [OMIM:162270] -synonym: "NF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:162270] +synonym: "neurofibromatosis, variant form(S) of" RELATED [] +synonym: "Nf 4" RELATED [] +synonym: "NF4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "type IV neurofibromatosis of Riccardi" EXACT [] xref: MEDGEN:67393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537392 {source="MONDO:equivalentTo"} @@ -166682,26 +166702,26 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:247709"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "men 2B" EXACT [NCIT:C3227] +synonym: "men 2B" EXACT [NCIT:C3227, OMIM:162300] synonym: "men IIB" EXACT [NCIT:C3227] synonym: "men type 2B" EXACT [NCIT:C3227] synonym: "men type IIB" EXACT [DOID:10016, NCIT:C3227] synonym: "MEN2B" EXACT ABBREVIATION [DOID:10016, MONDO:Lexical, OMIM:162300, Orphanet:247709] -synonym: "mucosal Neuroma syndrome" RELATED [OMIM:162300] +synonym: "mucosal Neuroma syndrome" RELATED [] synonym: "mucosal neuroma syndrome" EXACT [DOID:10016] synonym: "multiple endocrine adenomatosis type IIB" EXACT [NCIT:C3227] -synonym: "multiple endocrine neoplasia IIB" EXACT [OMIM:162300, OMIM:genemap2] -synonym: "multiple endocrine neoplasia type 2B" EXACT CLINGEN_LABEL [DOID:10016, NCIT:C3227] -synonym: "multiple endocrine neoplasia type 3" EXACT [Orphanet:247709] +synonym: "multiple endocrine neoplasia IIB" EXACT [] +synonym: "multiple endocrine neoplasia type 2B" EXACT CLINGEN_LABEL [DOID:10016, icd11.foundation:1754393919, NCIT:C3227, Orphanet:247709] +synonym: "multiple endocrine neoplasia type 3" EXACT [NCIT:C3227, Orphanet:247709] synonym: "multiple endocrine neoplasia type IIB" EXACT [NCIT:C3227] synonym: "multiple endocrine neoplasia type III" EXACT [NCIT:C3227] -synonym: "multiple endocrine neoplasia, type 2B" RELATED [OMIM:162300] +synonym: "multiple endocrine neoplasia, type 2B" RELATED [] synonym: "multiple endocrine neoplasia, type 3" EXACT [DOID:10016] synonym: "multiple endocrine neoplasia, type 3 (formerly)" RELATED [GARD:0010225] -synonym: "multiple endocrine neoplasia, type IIB" RELATED [MONDO:Lexical, OMIM:162300] -synonym: "multiple endocrine neoplasia, type III" EXACT [NCIT:C3227, OMIM:162300] -synonym: "multiple endocrine neoplasia, type III, formerly" RELATED [OMIM:162300] -synonym: "Neuromata, mucosal, with endocrine tumors" RELATED [OMIM:162300] +synonym: "multiple endocrine neoplasia, type IIB" RELATED [MONDO:Lexical] +synonym: "multiple endocrine neoplasia, type III" EXACT [NCIT:C3227] +synonym: "multiple endocrine neoplasia, type III, formerly" RELATED [] +synonym: "Neuromata, mucosal, with endocrine tumors" RELATED [] synonym: "Neuromata, mucosal, with endocrine tumours" RELATED OMO:0003005 [] synonym: "Wagenmann-Froboese syndrome" EXACT [DOID:10016, OMIM:162300, Orphanet:247709] xref: DOID:10016 {source="MONDO:equivalentTo"} @@ -166748,18 +166768,18 @@ synonym: "adult neuronal ceroid lipofuscinosis 4B" RELATED [GARD:0001222] synonym: "autosomal dominant Kufs disease" EXACT [NCIT:C128116] synonym: "autosomal dominant neuronal ceroid lipofuscinosis 4B" EXACT [DOID:0110720] synonym: "ceroid lipofuscinosis, neuronal, 4 (Kufs type)" EXACT [OMIM:162350] -synonym: "ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant" EXACT [OMIM:162350, OMIM:genemap2] -synonym: "ceroid lipofuscinosis, neuronal, 4B, autosomal dominant" RELATED [MONDO:Lexical, OMIM:162350] -synonym: "ceroid lipofuscinosis, neuronal, parry type" RELATED [OMIM:162350] +synonym: "ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant" EXACT [] +synonym: "ceroid lipofuscinosis, neuronal, 4B, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "ceroid lipofuscinosis, neuronal, parry type" RELATED [] synonym: "CLN4" EXACT ABBREVIATION [OMIM:162350] -synonym: "CLN4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:162350] -synonym: "CLN4B disease" EXACT [DOID:0110720] +synonym: "CLN4B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "CLN4B disease" EXACT [DOID:0110720, Orphanet:228343] synonym: "Kuf's disease type B" RELATED [GARD:0001222] synonym: "Kuf's disease, autosomal dominant" RELATED [GARD:0001222] -synonym: "Kufs disease, autosomal dominant" RELATED [OMIM:162350] +synonym: "Kufs disease, autosomal dominant" RELATED [] synonym: "neuronal ceroid lipofuscinosis 4 parry type" EXACT [DOID:0110720] synonym: "neuronal ceroid lipofuscinosis 4B" EXACT [DOID:0110720] -synonym: "neuronal ceroid lipofuscinosis type 4B" EXACT [DOID:0110720, MONDORULE:4] +synonym: "neuronal ceroid lipofuscinosis type 4B" EXACT [MONDORULE:4, NCIT:C128116] synonym: "neuronal ceroid lipofuscinosis, parry type" EXACT [NCIT:C128116] xref: DOID:0110720 {source="MONDO:equivalentTo"} xref: GARD:1222 {source="MONDO:GARD"} @@ -166790,7 +166810,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10086/neurop [Term] id: MONDO:0008085 name: obsolete neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance -synonym: "neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance" EXACT [OMIM:162380] +synonym: "neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance" EXACT [] xref: MESH:C563517 {source="MONDO:obsoleteEquivalent"} xref: OMIM:162380 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} @@ -166806,14 +166826,14 @@ subset: gard_rare {source="GARD:15095", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1" EXACT [MONDO:design_pattern] -synonym: "hereditary sensory and autonomic neuropathy type 1A" RELATED [DOID:0070152] +synonym: "hereditary sensory and autonomic neuropathy type 1A" RELATED [] synonym: "hereditary sensory and autonomic neuropathy type IA" EXACT [DOID:0070152] -synonym: "HSAN 1A" RELATED [OMIM:162400] +synonym: "HSAN 1A" RELATED [] synonym: "HSAN1A" EXACT ABBREVIATION [DOID:0070152, MONDO:Lexical, OMIM:162400] -synonym: "HSN 1A" RELATED [OMIM:162400] -synonym: "neuropathy, hereditary sensory and autonomic, type IA" RELATED [MONDO:Lexical, OMIM:162400] -synonym: "neuropathy, hereditary sensory radicular, autosomal dominant, type 1A" RELATED [OMIM:162400] -synonym: "neuropathy, hereditary sensory, type 1A" RELATED [OMIM:162400] +synonym: "HSN 1A" RELATED [] +synonym: "neuropathy, hereditary sensory and autonomic, type IA" RELATED [MONDO:Lexical] +synonym: "neuropathy, hereditary sensory radicular, autosomal dominant, type 1A" RELATED [] +synonym: "neuropathy, hereditary sensory, type 1A" RELATED [] synonym: "SPTLC1 hereditary sensory and autonomic neuropathy type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070152 {source="MONDO:equivalentTo"} xref: GARD:15095 {source="MONDO:GARD"} @@ -166841,16 +166861,16 @@ subset: rare synonym: "current pressure-sensitive neuropathy" EXACT [DOID:0060843, Orphanet:640] synonym: "familial recurrent polyneuropathy" EXACT [DOID:0060843] synonym: "hereditary liability to pressure palsies" EXACT [DECIPHER:31] -synonym: "hereditary neuropathy with liability to pressure palsies" EXACT CLINGEN_LABEL [] +synonym: "hereditary neuropathy with liability to pressure palsies" EXACT CLINGEN_LABEL [DOID:0060843, icd11.foundation:2126843932, Orphanet:640] synonym: "hereditary neuropathy with liability to pressure palsy" RELATED [GARD:0005221] synonym: "heterozygous microdeletion 17p11.2p12" EXACT [DOID:0060843, Orphanet:640] synonym: "HNPP" EXACT ABBREVIATION [DECIPHER:31, DOID:0060843, MONDO:Lexical, OMIM:162500, Orphanet:640] -synonym: "neuropathy, hereditary, with liability to pressure palsies" RELATED [MONDO:Lexical, OMIM:162500] -synonym: "neuropathy, recurrent, with pressure palsies" EXACT [OMIM:162500, OMIM:genemap2] -synonym: "polyneuropathy, familial recurrent" RELATED [OMIM:162500] +synonym: "neuropathy, hereditary, with liability to pressure palsies" RELATED [MONDO:Lexical] +synonym: "neuropathy, recurrent, with pressure palsies" EXACT [] +synonym: "polyneuropathy, familial recurrent" RELATED [] synonym: "potato-grubbing palsy" EXACT [DOID:0060843, Orphanet:640] -synonym: "Tomaculous neuropathy" EXACT [OMIM:162500, Orphanet:640] -synonym: "tomaculous neuropathy" EXACT [DOID:0060843] +synonym: "Tomaculous neuropathy" EXACT [DOID:0060843, OMIM:162500, Orphanet:640] +synonym: "tomaculous neuropathy" EXACT [DOID:0060843, OMIM:162500, Orphanet:640] synonym: "tulip-bulb digger's palsy" EXACT [DOID:0060843, Orphanet:640] xref: DECIPHER:31 {source="MONDO:equivalentTo"} xref: DOID:0060843 {source="MONDO:equivalentTo"} @@ -166875,7 +166895,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008088 name: neuropathy, with paraprotein in serum, cerebrospinal fluid and urine -synonym: "neuropathy, with paraprotein in serum, cerebrospinal fluid and urine" EXACT [OMIM:162600] +synonym: "neuropathy, with paraprotein in serum, cerebrospinal fluid and urine" EXACT [] xref: MEDGEN:371758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563516 {source="MONDO:equivalentTo"} xref: OMIM:162600 {source="MONDO:equivalentTo"} @@ -166887,7 +166907,7 @@ id: MONDO:0008089 name: neutropenia, chronic familial synonym: "chronic familial neutropenia" RELATED [GARD:0003983] synonym: "leukopenia benign familial" RELATED [GARD:0003983] -synonym: "leukopenia, benign familial" RELATED [OMIM:162700] +synonym: "leukopenia, benign familial" RELATED [] synonym: "neutropenia chronic familial" RELATED [GARD:0003983] synonym: "neutropenia, chronic familial" EXACT [OMIM:162700] xref: ICD9:288.09 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -166911,13 +166931,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CH" EXACT ABBREVIATION [NCIT:C3820] synonym: "CN" EXACT ABBREVIATION [NCIT:C3820] -synonym: "cyclic agranulocytosis" EXACT [DOID:5339] +synonym: "cyclic agranulocytosis" EXACT [DOID:5339, NCIT:C3820] synonym: "cyclic hematopoiesis" EXACT [DOID:5339, NCIT:C3820, OMIM:162800] -synonym: "cyclic neutropenia" RELATED [OMIM:162800] +synonym: "cyclic neutropenia" RELATED [] synonym: "cyclical neutropenia" EXACT [DOID:5339] synonym: "dysplasia, myelocytic periodic" EXACT [NCIT:C3820] synonym: "neutropenia cyclic" RELATED [GARD:0006229] -synonym: "neutropenia, cyclic" EXACT [OMIM:162800, OMIM:genemap2] +synonym: "neutropenia, cyclic" EXACT [] synonym: "neutropenia, periodic" EXACT [DOID:5339] synonym: "periodic neutropenia" EXACT [NCIT:C3820] xref: DOID:5339 {source="MONDO:equivalentTo"} @@ -166945,9 +166965,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008091 name: obsolete abnormal neutrophil chemotactic response -synonym: "neutrophil chemotactic response" RELATED [OMIM:162820] -synonym: "neutrophil migration" RELATED [MONDO:Lexical, OMIM:162820] -synonym: "NM" BROAD ABBREVIATION [MONDO:Lexical, OMIM:162820] +synonym: "neutrophil chemotactic response" RELATED [] +synonym: "neutrophil migration" RELATED [MONDO:Lexical] +synonym: "NM" BROAD ABBREVIATION [MONDO:Lexical] xref: OMIM:162820 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3801" xsd:anyURI @@ -166966,7 +166986,7 @@ subset: ordo_disorder {source="Orphanet:279943"} subset: orphanet_rare {source="Orphanet:279943"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neutrophilia, hereditary" RELATED [OMIM:162830] +synonym: "neutrophilia, hereditary" RELATED [] xref: DOID:0090120 {source="MONDO:equivalentTo"} xref: GARD:17287 {source="MONDO:GARD"} xref: ICD10CM:D72.8 {source="DOID:0090120", source="Orphanet:279943", source="Orphanet:279943/attributed", source="Orphanet:279943/ntbt"} @@ -166988,16 +167008,16 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Epidermal Nevus" EXACT [NCIT:C4088] -synonym: "epidermal nevus, somatic" EXACT [OMIM:162900, OMIM:genemap2] -synonym: "Nevus sebaceous" RELATED [OMIM:162900] +synonym: "Epidermal Nevus" EXACT [DOID:0111162, NCIT:C4088] +synonym: "epidermal nevus, somatic" EXACT [] +synonym: "Nevus sebaceous" RELATED [] synonym: "nevus sebaceous or woolly hair nevus, somatic" EXACT OMO:0003005 [] -synonym: "nevus sebaceous or wooly hair nevus, somatic" EXACT [OMIM:162900, OMIM:genemap2] +synonym: "nevus sebaceous or wooly hair nevus, somatic" EXACT [] synonym: "nevus, epidermal" EXACT [OMIM:162900] -synonym: "nevus, epidermal, somatic" EXACT [OMIM:162900, OMIM:genemap2] -synonym: "Nevus, Keratinocytic, nonepidermolytic" RELATED [OMIM:162900] +synonym: "nevus, epidermal, somatic" EXACT [] +synonym: "Nevus, Keratinocytic, nonepidermolytic" RELATED [] synonym: "Nevus, woolly hair" RELATED OMO:0003005 [] -synonym: "Nevus, wooly hair" RELATED [OMIM:162900] +synonym: "Nevus, wooly hair" RELATED [] synonym: "nonepidermolytic keratinocytic nevus" EXACT [DOID:0111162] xref: DOID:0111162 {source="MONDO:equivalentTo"} xref: MEDGEN:83106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -167022,12 +167042,12 @@ subset: ordo_morphological_anomaly {source="Orphanet:624"} subset: orphanet_rare {source="Orphanet:624"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "capillary malformations" RELATED [OMIM:163000] -synonym: "capillary malformations, congenital" RELATED [MONDO:Lexical, OMIM:163000] -synonym: "capillary malformations, congenital, 1, somatic, mosaic" EXACT [OMIM:163000, OMIM:genemap2] -synonym: "CMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:163000] -synonym: "familial multiple port-wine stains" EXACT [Orphanet:624] -synonym: "nevi flammei, familial multiple" RELATED [OMIM:163000] +synonym: "capillary malformations" RELATED [] +synonym: "capillary malformations, congenital" RELATED [MONDO:Lexical] +synonym: "capillary malformations, congenital, 1, somatic, mosaic" EXACT [] +synonym: "CMC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "familial multiple port-wine stains" EXACT [DOID:0111529, Orphanet:624] +synonym: "nevi flammei, familial multiple" RELATED [] synonym: "Nevus flammeus" EXACT [NCIT:C3840] synonym: "port wine birthmark" EXACT [NCIT:C3840] synonym: "port wine Nevus" EXACT [NCIT:C3840] @@ -167035,7 +167055,7 @@ synonym: "port wine stain" EXACT [NCIT:C3840] synonym: "port wine stain of skin" EXACT [NCIT:C3840] synonym: "port wine stain of the skin" EXACT [NCIT:C3840] synonym: "port wine type hemangioma" EXACT [NCIT:C3840] -synonym: "port-wine stain" RELATED [OMIM:163000] +synonym: "port-wine stain" RELATED [] synonym: "port-wine stain familial multiple" RELATED [GARD:0003986] synonym: "port-wine stain of skin" EXACT [NCIT:C3840] synonym: "Salmon patch Nevus" EXACT [NCIT:C3840] @@ -167062,8 +167082,8 @@ id: MONDO:0008095 name: nevus anemicus def: "A capillary vascular anomaly that is characterized by hypopigmented macules." [NCIT:C3943] synonym: "anemicus Nevus" EXACT [NCIT:C3943] -synonym: "NEVUS anemicus" RELATED [OMIM:163050] -synonym: "Nevus anemicus" EXACT [MONDO:ambiguous] +synonym: "NEVUS anemicus" RELATED [] +synonym: "Nevus anemicus" EXACT [MONDO:ambiguous, NCIT:C3943, OMIM:163050] synonym: "nevus anemicus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0025105 {source="MONDO:otherHierarchy"} xref: ICD9:709.09 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -167079,9 +167099,9 @@ property_value: IAO:0000589 "nevus anemicus (disease)" xsd:string [Term] id: MONDO:0008096 name: nevus flammeus of nape of neck -synonym: "erythema nuchae" RELATED [OMIM:163100] +synonym: "erythema nuchae" RELATED [] synonym: "nevus flammeus of nape of neck" EXACT [OMIM:163100] -synonym: "Unna Nevus" RELATED [OMIM:163100] +synonym: "Unna Nevus" RELATED [] xref: MEDGEN:437278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567524 {source="MONDO:equivalentTo"} xref: OMIM:163100 {source="MONDO:equivalentTo"} @@ -167098,31 +167118,31 @@ subset: ordo_disorder {source="Orphanet:2612"} subset: orphanet_rare {source="Orphanet:2612"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epidermal nevus syndrome" RELATED [OMIM:163200] -synonym: "Epidermal Nevus syndrome, formerly" RELATED [OMIM:163200] -synonym: "Jadassohn Nevus phakomatosis" RELATED [OMIM:163200] +synonym: "epidermal nevus syndrome" RELATED [] +synonym: "Epidermal Nevus syndrome, formerly" RELATED [] +synonym: "Jadassohn Nevus phakomatosis" RELATED [] synonym: "Jadassohn nevus phakomatosis" RELATED [GARD:0010291] synonym: "JNP" RELATED ABBREVIATION [GARD:0010291] synonym: "linear sebaceous Nevus" EXACT [NCIT:C4678] -synonym: "linear sebaceous Nevus syndrome" RELATED [OMIM:163200] +synonym: "linear sebaceous Nevus syndrome" RELATED [] synonym: "Nevus sebaceous of Jadassohn" EXACT [NCIT:C4678] -synonym: "Nevus sebaceus of Jadassohn" EXACT [GARD:0010291, OMIM:163200, Orphanet:2612] -synonym: "Nevus Sebaceus Syndrome" EXACT [NORD:1692] -synonym: "Nevus sebaceus syndrome" EXACT [Orphanet:2612] +synonym: "Nevus sebaceus of Jadassohn" EXACT [DOID:0111530, GARD:0010291, OMIM:163200, Orphanet:2612] +synonym: "Nevus Sebaceus Syndrome" EXACT [DOID:0111530, NORD:1692, Orphanet:2612] +synonym: "Nevus sebaceus syndrome" EXACT [DOID:0111530, Orphanet:2612] synonym: "organoid Nevus" EXACT [NCIT:C4678] -synonym: "organoid Nevus phakomatosis" RELATED [OMIM:163200] +synonym: "organoid Nevus phakomatosis" RELATED [] synonym: "organoid nevus phakomatosis" RELATED [GARD:0010291] -synonym: "organoid nevus syndrome" EXACT [Orphanet:2612] +synonym: "organoid nevus syndrome" EXACT [DOID:0111530, Orphanet:2612] synonym: "Schimmelpenning Feuerstein Mims syndrome" RELATED [GARD:0010291] -synonym: "Schimmelpenning syndrome" EXACT [Orphanet:2612] -synonym: "SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome" RELATED [MONDO:Lexical, OMIM:163200] -synonym: "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic" EXACT [OMIM:163200, OMIM:genemap2] +synonym: "Schimmelpenning syndrome" EXACT [DOID:0111530, Orphanet:2612] +synonym: "SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome" RELATED [MONDO:Lexical] +synonym: "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic" EXACT [] synonym: "sebaceous nevus syndrome linear" RELATED [GARD:0010291] -synonym: "sebaceous Nevus syndrome, linear" RELATED [OMIM:163200] -synonym: "SFM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:163200] +synonym: "sebaceous Nevus syndrome, linear" RELATED [] +synonym: "SFM" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SFM syndrome" RELATED [GARD:0010291] -synonym: "Sfm syndrome" RELATED [OMIM:163200] -synonym: "Solomon syndrome" EXACT [Orphanet:2612] +synonym: "Sfm syndrome" RELATED [] +synonym: "Solomon syndrome" EXACT [DOID:0111530, Orphanet:2612] xref: DOID:0111530 {source="MONDO:equivalentTo"} xref: GARD:10291 {source="MONDO:GARD"} xref: ICD10CM:Q85.8 {source="Orphanet:2612", source="Orphanet:2612/attributed", source="Orphanet:2612/ntbt"} @@ -167152,7 +167172,7 @@ subset: orphanet_rare {source="Orphanet:2633"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mesomelic dwarfism Nievergelt type" RELATED [GARD:0003554] -synonym: "mesomelic dysplasia, Nievergelt type" RELATED [OMIM:163400] +synonym: "mesomelic dysplasia, Nievergelt type" RELATED [] synonym: "Nievergelt syndrome" EXACT [OMIM:163400, Orphanet:2633] synonym: "radioulnar synostosis and a typical rhomboid shape of the tibia and fibula" RELATED [GARD:0003554] xref: GARD:3554 {source="MONDO:GARD"} @@ -167177,12 +167197,12 @@ name: congenital stationary night blindness autosomal dominant 2 def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15096", source="MONDO:GARD"} subset: rare -synonym: "congenital stationary night blindness autosomal dominant type 2" EXACT [DOID:0110863, MONDORULE:1] +synonym: "congenital stationary night blindness autosomal dominant type 2" EXACT [MONDORULE:1] synonym: "congenital stationary night blindness caused by mutation in PDE6B" EXACT [MONDO:design_pattern] synonym: "CSNBAD2" EXACT ABBREVIATION [DOID:0110863, MONDO:Lexical, OMIM:163500] -synonym: "night blindness, congenital stationary, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:163500] -synonym: "night blindness, congenital stationary, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:163500] -synonym: "night blindness, congenital stationary, Rambusch type" RELATED [OMIM:163500] +synonym: "night blindness, congenital stationary, autosomal dominant 2" RELATED [MONDO:Lexical] +synonym: "night blindness, congenital stationary, autosomal dominant type 2" EXACT [MONDORULE:1] +synonym: "night blindness, congenital stationary, Rambusch type" RELATED [] synonym: "PDE6B congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Rambusch type congenital stationary night blindness" EXACT [DOID:0110863] xref: DOID:0110863 {source="MONDO:equivalentTo"} @@ -167202,7 +167222,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008100 name: nipples inverted -synonym: "Mammillae Invertitae" RELATED [OMIM:163600] +synonym: "Mammillae Invertitae" RELATED [] synonym: "nipples inverted" EXACT [OMIM:163600] xref: MEDGEN:82844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:163600 {source="MONDO:equivalentTo"} @@ -167219,11 +167239,11 @@ subset: ordo_disorder {source="Orphanet:2456"} subset: ordo_morphological_anomaly {source="Orphanet:2456"} subset: orphanet_rare {source="Orphanet:2456"} subset: rare -synonym: "accessory nipples" RELATED [OMIM:163700] +synonym: "accessory nipples" RELATED [] synonym: "isolated polythelia" EXACT [Orphanet:2456] -synonym: "nipples, supernumerary" RELATED [OMIM:163700] -synonym: "polymastia" RELATED [OMIM:163700] -synonym: "polythelia, familial" RELATED [OMIM:163700] +synonym: "nipples, supernumerary" RELATED [] +synonym: "polymastia" RELATED [] +synonym: "polythelia, familial" RELATED [] xref: GARD:2259 {source="MONDO:GARD"} xref: ICD10CM:Q83.3 {source="Orphanet:2456/ntbt", source="Orphanet:2456"} xref: MEDGEN:120564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -167239,16 +167259,16 @@ name: sick sinus syndrome 2, autosomal dominant def: "Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18284", source="MONDO:GARD"} subset: rare -synonym: "atrial fibrillation with Bradyarrhythmia" RELATED [OMIM:163800] +synonym: "atrial fibrillation with Bradyarrhythmia" RELATED [] synonym: "HCN4 sick sinus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "sick sinus syndrome 2" RELATED [OMIM:163800] -synonym: "sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation" RELATED [OMIM:163800] -synonym: "sick sinus syndrome 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:163800] +synonym: "sick sinus syndrome 2" RELATED [] +synonym: "sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation" RELATED [] +synonym: "sick sinus syndrome 2, autosomal dominant" EXACT [MONDO:Lexical] synonym: "sick sinus syndrome caused by mutation in HCN4" EXACT [MONDO:design_pattern] -synonym: "sinus bradycardia syndrome, familial, autosomal dominant" RELATED [OMIM:163800] -synonym: "sinus node disease, familial, autosomal dominant" RELATED [OMIM:163800] -synonym: "Sss, autosomal dominant" RELATED [OMIM:163800] -synonym: "SSS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:163800] +synonym: "sinus bradycardia syndrome, familial, autosomal dominant" RELATED [] +synonym: "sinus node disease, familial, autosomal dominant" RELATED [] +synonym: "Sss, autosomal dominant" RELATED [] +synonym: "SSS2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18284 {source="MONDO:GARD"} xref: MEDGEN:320273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563513 {source="MONDO:equivalentTo"} @@ -167277,14 +167297,14 @@ def: "Noonan syndrome caused by mutations in the PTPN11 gene." [NCIT:C75459] subset: gard_rare {source="GARD:7223", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "female pseudo-Turner syndrome" RELATED [OMIM:163950] -synonym: "Male Turner syndrome" RELATED [OMIM:163950] -synonym: "Noonan syndrome" RELATED [OMIM:163950] -synonym: "Noonan syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:163950] -synonym: "Noonan syndrome type 1" EXACT [DOID:0060578, MONDORULE:1, OMIM:163950] +synonym: "female pseudo-Turner syndrome" RELATED [] +synonym: "Male Turner syndrome" RELATED [] +synonym: "Noonan syndrome" RELATED [] +synonym: "Noonan syndrome 1" EXACT CLINGEN_LABEL [DOID:0060578, MONDO:Lexical, NCIT:C75459, OMIM:163950] +synonym: "Noonan syndrome type 1" EXACT [MONDORULE:1] synonym: "NS1" EXACT ABBREVIATION [DOID:0060578, MONDO:Lexical, OMIM:163950] -synonym: "pterygium colli syndrome" RELATED [OMIM:163950] -synonym: "Turner phenotype with normal karyotype" RELATED [OMIM:163950] +synonym: "pterygium colli syndrome" RELATED [] +synonym: "Turner phenotype with normal karyotype" RELATED [] xref: DOID:0060578 {source="MONDO:equivalentTo"} xref: GARD:7223 {source="MONDO:GARD"} xref: MEDGEN:1638960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -167300,7 +167320,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008105 name: nose, anomalous shape of synonym: "nose, anomalous shape of" EXACT [OMIM:164000] -synonym: "potato Nose" RELATED [OMIM:164000] +synonym: "potato Nose" RELATED [] xref: MEDGEN:331668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538354 {source="MONDO:equivalentTo"} xref: OMIM:164000 {source="MONDO:equivalentTo"} @@ -167310,10 +167330,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008106 name: nystagmus 2, congenital, autosomal dominant -synonym: "NYS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164100] -synonym: "NYSTAGMUS 2, congenital, autosomal dominant" RELATED [MONDO:Lexical, OMIM:164100] +synonym: "NYS2" EXACT ABBREVIATION [DOID:0111792, MONDO:Lexical, OMIM:164100] +synonym: "NYSTAGMUS 2, congenital, autosomal dominant" RELATED [MONDO:Lexical] synonym: "Nystagmus congenital, motor 2" RELATED [GARD:0009599] -synonym: "Nystagmus, congenital motor, 2" RELATED [OMIM:164100] +synonym: "Nystagmus, congenital motor, 2" RELATED [] xref: DOID:0111792 {source="MONDO:equivalentTo"} xref: MEDGEN:331657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537854 {source="MONDO:equivalentTo"} @@ -167351,13 +167371,13 @@ subset: orphanet_rare {source="Orphanet:1647"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Delleman Oorthuys syndrome" RELATED [GARD:0000106] -synonym: "Delleman syndrome" EXACT [Orphanet:1647] +synonym: "Delleman syndrome" EXACT [OMIM:164180, Orphanet:1647] synonym: "Delleman-Oorthuys syndrome" EXACT [Orphanet:1647] synonym: "Leichtman-Wood-Rohn syndrome" EXACT [Orphanet:1647] synonym: "OCC syndrome" RELATED [GARD:0000106] synonym: "OCCS" EXACT ABBREVIATION [GARD:0000106, OMIM:164180, Orphanet:1647] synonym: "oculo-cerebro-cutaneous syndrome" RELATED [GARD:0000106] -synonym: "oculocerebrocutaneous syndrome" EXACT [OMIM:164180] +synonym: "oculocerebrocutaneous syndrome" EXACT [OMIM:164180, Orphanet:1647] synonym: "orbital cyst with cerebral and focal dermal malformations" EXACT [GARD:0000106, OMIM:164180, Orphanet:1647] xref: GARD:106 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1647/attributed", source="Orphanet:1647/ntbt", source="Orphanet:1647"} @@ -167384,9 +167404,9 @@ subset: orphanet_rare {source="Orphanet:99922"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cicatricial pemphigoid, ocular" RELATED [GARD:0008759] -synonym: "OCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164185] -synonym: "ocular cicatricial pemphigoid" EXACT [MONDO:Lexical, OMIM:164185] -synonym: "ocular pemphigoid" EXACT [MONDO:0020548] +synonym: "OCP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ocular cicatricial pemphigoid" EXACT [icd11.foundation:953963439, MONDO:Lexical, NCIT:C84939, OMIM:164185, Orphanet:99922] +synonym: "ocular pemphigoid" EXACT [icd11.foundation:953963439, MONDO:0020548] synonym: "pemphigoid, ocular cicatricial" RELATED [GARD:0008759] xref: EFO:0008610 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:8759 {source="MONDO:GARD"} @@ -167411,7 +167431,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8759/ocular- id: MONDO:0008110 name: obsolete ocular dominance comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "ocular dominance" EXACT [OMIM:164190] +synonym: "ocular dominance" EXACT [] xref: OMIM:164190 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -167432,11 +167452,11 @@ synonym: "Meyer-Schwickerath syndrome" EXACT [Orphanet:2710] synonym: "Oculo-Dento-Digital Dysplasia" EXACT [NORD:1519] synonym: "oculo-dento-digital dysplasia" EXACT [GARD:0007239] synonym: "oculo-dento-digital syndrome" RELATED [GARD:0007239] -synonym: "oculodentodigital dysplasia" EXACT [MONDO:Lexical, OMIM:164200] +synonym: "oculodentodigital dysplasia" EXACT [DOID:0060291, MONDO:Lexical, OMIM:164200, Orphanet:2710] synonym: "oculodentodigital syndrome" RELATED [GARD:0007239] synonym: "oculodentoosseous dysplasia" EXACT [OMIM:164200, Orphanet:2710] synonym: "odd syndrome" EXACT [DOID:0060291, OMIM:164200] -synonym: "ODDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164200] +synonym: "ODDD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ODDD syndrome" EXACT [Orphanet:2710] xref: DOID:0060291 {source="MONDO:equivalentTo"} xref: GARD:7239 {source="MONDO:GARD"} @@ -167482,13 +167502,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:2353"} subset: orphanet_rare {source="Orphanet:2353"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "blepharofacioskeletal syndrome" RELATED [GARD:0002930, OMIM:164220] +synonym: "blepharofacioskeletal syndrome" RELATED [GARD:0002930] synonym: "BRSS" EXACT ABBREVIATION [Orphanet:2353] -synonym: "cleft palate, hypotelorism, and hypospadias" RELATED [OMIM:164220] +synonym: "cleft palate, hypotelorism, and hypospadias" RELATED [] synonym: "hypotelorism cleft palate hypospadias" RELATED [GARD:0002930] synonym: "hypotelorism-cleft palate-hypospadias syndrome" EXACT [Orphanet:2353] -synonym: "ocular hypotelorism, submucosal cleft palate, and hypospadias" RELATED [GARD:0002930, OMIM:164220] -synonym: "Schilbach-Rott syndrome" EXACT [GARD:0002930, OMIM:164220] +synonym: "ocular hypotelorism, submucosal cleft palate, and hypospadias" RELATED [GARD:0002930] +synonym: "Schilbach-Rott syndrome" EXACT [GARD:0002930, OMIM:164220, Orphanet:2353] xref: GARD:2930 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2353", source="Orphanet:2353/attributed", source="Orphanet:2353/ntbt"} xref: MEDGEN:371716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -167509,10 +167529,10 @@ name: obsessive-compulsive disorder def: "A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "Anancastic neurosis" EXACT [DOID:10933] -synonym: "obsessive compulsive disorder" EXACT [DOID:10933] -synonym: "obsessive-compulsive disorder" EXACT [MONDO:Lexical, OMIM:164230] -synonym: "obsessive-compulsive disorder, susceptibility to" EXACT [OMIM:164230, OMIM:genemap2] -synonym: "OCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164230] +synonym: "obsessive compulsive disorder" EXACT [DOID:10933, NCIT:C88411] +synonym: "obsessive-compulsive disorder" EXACT [DOID:10933, ICD10CM:F42, icd11.foundation:1582741816, MONDO:Lexical, NCIT:C88411, OMIM:164230] +synonym: "obsessive-compulsive disorder, susceptibility to" EXACT [] +synonym: "OCD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:10933 {source="MONDO:equivalentTo", source="EFO:0004242"} xref: EFO:0004242 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F42 {source="DOID:10933", source="MONDO:equivalentTo"} @@ -167542,30 +167562,30 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:391641"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Brunner-Winter syndrome type 1" EXACT [Orphanet:391641] -synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" RELATED [OMIM:164280] +synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" RELATED [] synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1" EXACT [Orphanet:391641] synonym: "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum" RELATED OMO:0003005 [] synonym: "digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1" EXACT OMO:0003005 [] -synonym: "Feingold syndrome" RELATED [OMIM:164280] -synonym: "Feingold syndrome 1" RELATED [MONDO:Lexical, OMIM:164280] +synonym: "Feingold syndrome" RELATED [] +synonym: "Feingold syndrome 1" RELATED [MONDO:Lexical] synonym: "Feingold syndrome caused by mutation in MYCN" EXACT [MONDO:design_pattern] -synonym: "Feingold syndrome type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:164280] +synonym: "Feingold syndrome type 1" EXACT CLINGEN_LABEL [MONDORULE:1, Orphanet:391641] synonym: "FGLDS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164280, Orphanet:391641] synonym: "FS1" EXACT ABBREVIATION [Orphanet:391641] -synonym: "microcephaly and digital abnormalities with normal intelligence" RELATED [OMIM:164280] -synonym: "microcephaly, intellectual disability, and tracheoesophageal fistula syndrome" RELATED [OMIM:164280] -synonym: "microcephaly, mental retardation, and tracheoesophageal fistula syndrome" RELATED DEPRECATED [OMIM:164280] +synonym: "microcephaly and digital abnormalities with normal intelligence" RELATED [] +synonym: "microcephaly, intellectual disability, and tracheoesophageal fistula syndrome" RELATED [] +synonym: "microcephaly, mental retardation, and tracheoesophageal fistula syndrome" RELATED DEPRECATED [] synonym: "microcephaly-digital anomalies-normal intelligence syndrome type 1" EXACT [Orphanet:391641] synonym: "microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1" EXACT [Orphanet:391641] -synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" RELATED [OMIM:164280] +synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" RELATED [] synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1" EXACT [Orphanet:391641] -synonym: "Mmt syndrome" RELATED [OMIM:164280] +synonym: "Mmt syndrome" RELATED [] synonym: "MMT type 1" EXACT [Orphanet:391641] synonym: "MODED syndrome type 1" EXACT [Orphanet:391641] synonym: "MYCN Feingold syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "oculo-digito-esophageal-duodenal syndrome type 1" EXACT [Orphanet:391641] -synonym: "oculodigitoesophagoduodenal syndrome" RELATED [OMIM:164280] -synonym: "Oded syndrome" RELATED [OMIM:164280] +synonym: "oculodigitoesophagoduodenal syndrome" RELATED [] +synonym: "Oded syndrome" RELATED [] synonym: "ODED syndrome type 1" EXACT [Orphanet:391641] xref: GARD:17624 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:391641/attributed", source="Orphanet:391641/ntbt", source="Orphanet:391641"} @@ -167593,9 +167613,9 @@ subset: ordo_disorder {source="Orphanet:270"} subset: orphanet_rare {source="Orphanet:270"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "muscular dystrophy, oculopharyngeal" EXACT [DOID:11719, OMIM:164300] -synonym: "oculopharyngeal muscular dystrophy" EXACT [MONDO:Lexical, OMIM:164300] -synonym: "OPMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164300, Orphanet:270] +synonym: "muscular dystrophy, oculopharyngeal" EXACT [DOID:11719] +synonym: "oculopharyngeal muscular dystrophy" EXACT [DOID:11719, icd11.foundation:1354386293, MONDO:Lexical, OMIMPS:164300, Orphanet:270] +synonym: "OPMD" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:270] xref: DOID:11719 {source="MONDO:equivalentTo"} xref: GARD:7245 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:270/inclusion", source="Orphanet:270", source="DOID:11719", source="Orphanet:270/ntbt"} @@ -167636,7 +167656,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "boder syndrome" EXACT [Orphanet:2724] synonym: "odontoma dysphagia syndrome" RELATED [GARD:0000238] -synonym: "odontoma-dysphagia syndrome" RELATED [OMIM:164330] +synonym: "odontoma-dysphagia syndrome" RELATED [] synonym: "Odontomatosis (multiple odontomas) with dysphagia" RELATED [GARD:0000238] xref: GARD:238 {source="MONDO:GARD"} xref: MEDGEN:320249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -167659,19 +167679,20 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ATXN1 autosomal dominant cerebellar ataxia type I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1" EXACT [MONDO:design_pattern] -synonym: "cerebelloparenchymal disorder 1" RELATED [OMIM:164400] -synonym: "Menzel type OPCA" RELATED [OMIM:164400] -synonym: "olivopontocerebellar atrophy 1" RELATED [OMIM:164400] -synonym: "olivopontocerebellar atrophy 4" RELATED [OMIM:164400] -synonym: "OPCA 1" RELATED [OMIM:164400] -synonym: "OPCA 4" RELATED [OMIM:164400] +synonym: "cerebelloparenchymal disorder 1" RELATED [] +synonym: "Menzel type OPCA" RELATED [] +synonym: "olivopontocerebellar atrophy 1" RELATED [] +synonym: "olivopontocerebellar atrophy 4" RELATED [] +synonym: "OPCA 1" RELATED [] +synonym: "OPCA 4" RELATED [] synonym: "OPCA1" RELATED ABBREVIATION [GARD:0004071] synonym: "OPCA4" RELATED ABBREVIATION [GARD:0004071] -synonym: "Sca1" EXACT [MONDO:Lexical, OMIM:164400, Orphanet:98755] -synonym: "Schut-haymaker type OPCA" RELATED [OMIM:164400] -synonym: "spinocerebellar ataxia 1" RELATED [MONDO:Lexical, OMIM:164400] -synonym: "spinocerebellar ataxia type 1" EXACT [MONDORULE:1, OMIM:164400] -synonym: "spinocerebellar atrophy 1" RELATED [OMIM:164400] +synonym: "SCA1" EXACT ABBREVIATION [NCIT:C129982, OMIM:164400, Orphanet:98755] +synonym: "Sca1" EXACT [MONDO:Lexical] +synonym: "Schut-haymaker type OPCA" RELATED [] +synonym: "spinocerebellar ataxia 1" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 1" EXACT [DOID:0050954, icd11.foundation:2071487961, MONDORULE:1, NCIT:C129982, Orphanet:98755] +synonym: "spinocerebellar atrophy 1" RELATED [] xref: DOID:0050954 {source="MONDO:equivalentTo"} xref: GARD:4071 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:98755/attributed", source="Orphanet:98755/ntbt", source="Orphanet:98755"} @@ -167726,8 +167747,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93328"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OMOD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164745] -synonym: "omodysplasia 2" RELATED [MONDO:Lexical, OMIM:164745] +synonym: "OMOD2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "omodysplasia 2" RELATED [MONDO:Lexical] synonym: "omodysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:164745] xref: DOID:0080845 {source="MONDO:equivalentTo"} xref: GARD:3643 {source="MONDO:GARD"} @@ -167753,8 +167774,8 @@ name: omphalocele, autosomal subset: gard_rare {source="GARD:18586", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "chromosome 1P31 Duplication syndrome" RELATED [OMIM:164750] -synonym: "omphalocele due to duplication of 1p31.3, isolated cases" EXACT [OMIM:164750, OMIM:genemap2] +synonym: "chromosome 1P31 Duplication syndrome" RELATED [] +synonym: "omphalocele due to duplication of 1p31.3, isolated cases" EXACT [] synonym: "omphalocele, autosomal" EXACT [OMIM:164750] synonym: "paraomphalocele" RELATED [GARD:0004218] synonym: "type - epigastric - defect in the cephalic fold" RELATED [GARD:0004218] @@ -167773,11 +167794,11 @@ id: MONDO:0008125 name: nonsyndromic congenital nail disorder 5 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "nail disorder, nonsyndromic congenital, 5" RELATED [MONDO:Lexical, OMIM:164800] -synonym: "NDNC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:164800] -synonym: "nonsyndromic congenital nail disorder type 5" EXACT [DOID:0080083, MONDORULE:1] -synonym: "onycholysis, hereditary distal" RELATED [OMIM:164800] -synonym: "onycholysis, partial, with scleronychia" RELATED [OMIM:164800] +synonym: "nail disorder, nonsyndromic congenital, 5" RELATED [MONDO:Lexical] +synonym: "NDNC5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nonsyndromic congenital nail disorder type 5" EXACT [MONDORULE:1] +synonym: "onycholysis, hereditary distal" RELATED [] +synonym: "onycholysis, partial, with scleronychia" RELATED [] xref: DOID:0080083 {source="MONDO:equivalentTo"} xref: MEDGEN:318994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563503 {source="MONDO:equivalentTo"} @@ -167792,7 +167813,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008126 name: obsolete oncogene Yuasa comment: This is a gene record, not a disease. -synonym: "oncogene Yuasa" EXACT [OMIM:164891] +synonym: "oncogene Yuasa" EXACT [] xref: OMIM:164891 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1452" xsd:anyURI is_obsolete: true @@ -167809,7 +167830,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "OMM syndrome" EXACT [OMIM:164900, Orphanet:2741] synonym: "Ophthalmo-mandibulo-melic dysplasia" RELATED [GARD:0004365] -synonym: "ophthalmomandibulomelic dysplasia" EXACT [OMIM:164900] +synonym: "ophthalmomandibulomelic dysplasia" EXACT [icd11.foundation:869046719, OMIM:164900, Orphanet:2741] synonym: "Pillay syndrome" EXACT [Orphanet:2741] xref: GARD:4365 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2741/attributed", source="Orphanet:2741/ntbt", source="Orphanet:2741"} @@ -167826,7 +167847,7 @@ relationship: excluded_subClassOf MONDO:0020215 {source="Orphanet:2741", source= [Term] id: MONDO:0008128 name: ophthalmoplegia, familial static -synonym: "external ophthalmoplegia, nonprogressive, congenital hereditary" RELATED [OMIM:165000] +synonym: "external ophthalmoplegia, nonprogressive, congenital hereditary" RELATED [] synonym: "ophthalmoplegia, familial static" EXACT [OMIM:165000] xref: MEDGEN:371666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563500 {source="MONDO:equivalentTo"} @@ -167855,8 +167876,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Levic Stefanovic Nikolic syndrome" RELATED [GARD:0003236] synonym: "Levic-Stefanovic-Nikolic syndrome" EXACT [Orphanet:2743] -synonym: "ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" RELATED [OMIM:165150] -synonym: "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome" EXACT [GARD:0003236] +synonym: "ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" RELATED [] +synonym: "ophthalmoplegia-intellectual disability-lingua scrotalis syndrome" EXACT [GARD:0003236, Orphanet:2743] xref: GARD:3236 {source="MONDO:GARD"} xref: MEDGEN:318972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563498 {source="MONDO:equivalentTo"} @@ -167908,13 +167929,13 @@ subset: ordo_disorder {source="Orphanet:67036"} subset: orphanet_rare {source="Orphanet:67036"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant optic atrophy type 3" EXACT [Orphanet:67036] -synonym: "OPA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:165300] +synonym: "autosomal dominant optic atrophy type 3" EXACT [DOID:0111433, Orphanet:67036] +synonym: "OPA3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "OPA3, autosomal dominant" EXACT [Orphanet:67036] -synonym: "optic atrophy 3" EXACT [GARD:0010203] +synonym: "optic atrophy 3" EXACT [DOID:0111433, GARD:0010203] synonym: "optic atrophy 3 with cataract" RELATED [GARD:0010203] -synonym: "optic atrophy 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:165300] -synonym: "optic atrophy and cataract, autosomal dominant" RELATED [OMIM:165300] +synonym: "optic atrophy 3, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "optic atrophy and cataract, autosomal dominant" RELATED [] synonym: "optic atrophy, cataract, and neurologic disorder" RELATED [GARD:0010203] xref: DOID:0111433 {source="MONDO:equivalentTo"} xref: GARD:10203 {source="MONDO:GARD"} @@ -167946,13 +167967,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant optic atrophy, Kjer type" EXACT [Orphanet:98673] synonym: "Kjer optic atrophy" EXACT [Orphanet:98673] -synonym: "Kjer-type optic atrophy" RELATED [OMIM:165500] +synonym: "Kjer-type optic atrophy" RELATED [] synonym: "OAK" RELATED ABBREVIATION [GARD:0009890] -synonym: "OPA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:165500] -synonym: "optic atrophy 1" RELATED [MONDO:Lexical, OMIM:165500] -synonym: "optic atrophy type 1" EXACT [MONDORULE:1, OMIM:165500, Orphanet:98673] -synonym: "optic atrophy, juvenile" RELATED [OMIM:165500] -synonym: "optic atrophy, Kjer type" RELATED [OMIM:165500] +synonym: "OPA1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "optic atrophy 1" RELATED [MONDO:Lexical] +synonym: "optic atrophy type 1" EXACT [MONDORULE:1, Orphanet:98673] +synonym: "optic atrophy, juvenile" RELATED [] +synonym: "optic atrophy, Kjer type" RELATED [] xref: DOID:0111441 {source="MONDO:equivalentTo"} xref: GARD:9890 {source="MONDO:GARD"} xref: ICD10CM:H47.2 {source="Orphanet:98673/attributed", source="Orphanet:98673/ntbt", source="Orphanet:98673"} @@ -167975,7 +167996,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "optic atrophy 13 with retinal and foveal abnormalities" EXACT [https://www.clinicalgenome.org/affiliation/50053/, OMIM:165510] -synonym: "optic atrophy with negative Electroretinograms" EXACT [OMIM:165510] +synonym: "optic atrophy with negative Electroretinograms" EXACT [] xref: MEDGEN:1768962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563494 {source="MONDO:equivalentTo"} xref: OMIM:165510 {source="MONDO:equivalentTo"} @@ -167994,11 +168015,11 @@ subset: ordo_disorder {source="Orphanet:637061"} subset: orphanet_rare {source="Orphanet:637061"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial bilateral optic nerve hypoplasia" EXACT [GARD:0008419] -synonym: "isolated optic nerve hypoplasia/aplasia" RELATED [Orphanet:137902] -synonym: "optic nerve aplasia, bilateral" RELATED [OMIM:165550] +synonym: "familial bilateral optic nerve hypoplasia" EXACT [DOID:0111531, GARD:0008419] +synonym: "isolated optic nerve hypoplasia/aplasia" RELATED [] +synonym: "optic nerve aplasia, bilateral" RELATED [] synonym: "Optic Nerve Hypoplasia" EXACT [NORD:1528] -synonym: "optic nerve hypoplasia" RELATED [OMIM:165550, OMIM:genemap2] +synonym: "optic nerve hypoplasia" RELATED [] synonym: "optic nerve hypoplasia, bilateral" EXACT [OMIM:165550] synonym: "optic nerve hypoplasia, familial bilateral" EXACT [GARD:0008419] xref: DOID:0111531 {source="MONDO:equivalentTo"} @@ -168026,22 +168047,22 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:2756"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Figuera syndrome" EXACT [Orphanet:2756] +synonym: "Figuera syndrome" EXACT [] synonym: "OFD syndrome 10" RELATED [GARD:0004061] -synonym: "OFD10" EXACT ABBREVIATION [DOID:0060380, MONDO:Lexical, OMIM:165590, Orphanet:2756] -synonym: "Ofds 10" RELATED [OMIM:165590] +synonym: "OFD10" EXACT ABBREVIATION [DOID:0060380, MONDO:Lexical, OMIM:165590] +synonym: "Ofds 10" RELATED [] synonym: "oral facial digital syndrome 10" RELATED [GARD:0004061] synonym: "oral facial digital syndrome type 10" RELATED [GARD:0004061] synonym: "oral-facial-digital syndrome 10" RELATED [GARD:0004061] -synonym: "oral-facial-digital syndrome type 10" EXACT [Orphanet:2756] -synonym: "oral-Facial-digital syndrome with fibular aplasia" RELATED [OMIM:165590] -synonym: "oral-Facial-digital syndrome, type 10" RELATED [OMIM:165590] +synonym: "oral-facial-digital syndrome type 10" EXACT [] +synonym: "oral-Facial-digital syndrome with fibular aplasia" RELATED [] +synonym: "oral-Facial-digital syndrome, type 10" RELATED [] synonym: "orofaciodigital syndrome 10" RELATED [GARD:0004061] -synonym: "orofaciodigital syndrome type 10" EXACT [MONDORULE:2, OMIM:165590] +synonym: "orofaciodigital syndrome type 10" EXACT [MONDORULE:2] synonym: "orofaciodigital syndrome type Figuera" RELATED [GARD:0004061] -synonym: "orofaciodigital syndrome type X" EXACT [DOID:0060380, MONDORULE:1] -synonym: "orofaciodigital syndrome with fibular aplasia" EXACT [DOID:0060380, OMIM:165590, Orphanet:2756] -synonym: "orofaciodigital syndrome X" EXACT [MONDO:Lexical, OMIM:165590] +synonym: "orofaciodigital syndrome type X" EXACT [MONDORULE:1] +synonym: "orofaciodigital syndrome with fibular aplasia" EXACT [DOID:0060380, OMIM:165590] +synonym: "orofaciodigital syndrome X" EXACT [DOID:0060380, MONDO:Lexical] xref: DOID:0060380 {source="MONDO:equivalentTo"} xref: GARD:4061 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:2756", source="Orphanet:2756/attributed", source="Orphanet:2756/ntbt", source="DOID:0060380"} @@ -168067,7 +168088,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:98606"} subset: orphanet_rare {source="Orphanet:98606"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "orbital margin, hypoplasia OF" RELATED [OMIM:165600] +synonym: "orbital margin, hypoplasia OF" RELATED [] synonym: "Urrets-Zavalia syndrome" EXACT [Orphanet:98606] xref: GARD:16858 {source="MONDO:GARD"} xref: MEDGEN:318965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -168089,11 +168110,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2760"} subset: orphanet_rare {source="Orphanet:2760"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OSLAM syndrome" EXACT [OMIM:165660] +synonym: "OSLAM syndrome" EXACT [OMIM:165660, Orphanet:2760] synonym: "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anaemia" RELATED OMO:0003005 [] synonym: "osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia" RELATED [GARD:0004129] -synonym: "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow" RELATED [OMIM:165660] -synonym: "osteosarcoma, limb anomalies, and macrocytosis" RELATED [OMIM:165660] +synonym: "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow" RELATED [] +synonym: "osteosarcoma, limb anomalies, and macrocytosis" RELATED [] synonym: "osteosarcoma-limb anomalies-erythroid macrocytosis syndrome" EXACT [Orphanet:2760] xref: GARD:4129 {source="MONDO:GARD"} xref: ICD10CM:C41.9 {source="Orphanet:2760", source="Orphanet:2760/attributed", source="Orphanet:2760/ntbt"} @@ -168142,11 +168163,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aseptic necrosis of phalangeal epiphyses" EXACT [Orphanet:3314] synonym: "osteoarthropathy of fingers familial" RELATED [GARD:0004131] -synonym: "osteoarthropathy of fingers, familial" RELATED [OMIM:165700] -synonym: "osteochondritis of phalangeal epiphyses" EXACT [Orphanet:3314] +synonym: "osteoarthropathy of fingers, familial" RELATED [] +synonym: "osteochondritis of phalangeal epiphyses" EXACT [] synonym: "Osteochondrosis of phalangeal epiphyses" EXACT [Orphanet:3314] -synonym: "THIEMANN disease" RELATED [OMIM:165700] -synonym: "Thiemann epiphyseal disease" RELATED [OMIM:165700] +synonym: "THIEMANN disease" RELATED [] +synonym: "Thiemann epiphyseal disease" RELATED [] synonym: "Thiemann's disease" RELATED [GARD:0004131] xref: GARD:4131 {source="MONDO:GARD"} xref: ICD10CM:M93.2 {source="Orphanet:3314/attributed", source="Orphanet:3314/ntbt", source="Orphanet:3314"} @@ -168168,13 +168189,13 @@ name: osteoarthritis susceptibility 1 def: "Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "FRZB osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Oa" RELATED [OMIM:165720] -synonym: "OS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:165720] +synonym: "Oa" RELATED [] +synonym: "OS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "osteoarthritis caused by mutation in FRZB" EXACT [MONDO:design_pattern] -synonym: "osteoarthritis of hip, female-specific, susceptibility to" RELATED [OMIM:165720] +synonym: "osteoarthritis of hip, female-specific, susceptibility to" RELATED [] synonym: "osteoarthritis susceptibility 1" EXACT [MONDO:Lexical, OMIM:165720] -synonym: "osteoarthritis susceptibility type 1" EXACT [MONDORULE:1, OMIM:165720] -synonym: "osteoarthrosis" RELATED [OMIM:165720] +synonym: "osteoarthritis susceptibility type 1" EXACT [MONDORULE:1] +synonym: "osteoarthrosis" RELATED [] xref: ICD9:715.90 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: ICD9:715.98 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:854604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -168203,18 +168224,18 @@ subset: ordo_disorder {source="Orphanet:296"} subset: orphanet_rare {source="Orphanet:296"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dyschondroplasia" EXACT [DOID:4624, OMIM:166000, Orphanet:296] +synonym: "dyschondroplasia" EXACT [DOID:4624, NCIT:C3008, OMIM:166000] synonym: "enchondromatosis" RELATED [GARD:0007251] synonym: "enchondromatosis with haemangiomata" EXACT [DOID:4624] synonym: "enchondromatosis, multiple" EXACT [DOID:4624] -synonym: "enchondromatosis, multiple, Ollier type" RELATED [OMIM:166000] +synonym: "enchondromatosis, multiple, Ollier type" RELATED [] synonym: "Kast's syndrome" EXACT [DOID:4624] synonym: "multiple cartilaginous enchondroses" RELATED [GARD:0007251] synonym: "multiple enchondromatosis" RELATED [GARD:0007251] -synonym: "Ollier disease" EXACT [OMIM:166000, Orphanet:296] +synonym: "Ollier disease" EXACT [DOID:4624, NCIT:C3008, OMIM:166000, Orphanet:296] synonym: "Ollier type enchondromatosis" EXACT [https://orcid.org/0000-0002-3302-4610] synonym: "Ollier's disease" EXACT [NCIT:C3008] -synonym: "osteochondromatosis" EXACT [DOID:4624] +synonym: "osteochondromatosis" EXACT [DOID:4624, OMIM:166000] xref: DOID:4624 {source="MONDO:equivalentTo"} xref: GARD:7251 {source="MONDO:GARD"} xref: ICD10CM:Q78.4 {source="Orphanet:296/e", source="Orphanet:296/specific", source="DOID:4624", source="Orphanet:296"} @@ -168261,15 +168282,15 @@ synonym: "classic non-deforming OI with blue sclerae" RELATED [GARD:0008694] synonym: "mild osteogenesis imperfecta" EXACT [Orphanet:216796] synonym: "non-deforming osteogenesis imperfecta" EXACT [Orphanet:216796] synonym: "OI type 1" EXACT [Orphanet:216796] -synonym: "OI, type 1" RELATED [OMIM:166200] -synonym: "OI1" EXACT ABBREVIATION [DOID:0110334] -synonym: "osteogenesis imperfecta tarda" RELATED [OMIM:166200] -synonym: "osteogenesis imperfecta type 1" EXACT CLINGEN_LABEL [] -synonym: "osteogenesis imperfecta type I" EXACT [DOID:0110334] -synonym: "osteogenesis imperfecta with blue sclerae" RELATED [OMIM:166200] -synonym: "osteogenesis imperfecta, type 1" RELATED [OMIM:166200] -synonym: "osteogenesis imperfecta, type I" RELATED [OMIM:166200] -synonym: "Van der Hoeve syndrome" EXACT [Orphanet:216796] +synonym: "OI, type 1" RELATED [] +synonym: "OI1" EXACT ABBREVIATION [DOID:0110334, OMIM:166200] +synonym: "osteogenesis imperfecta tarda" RELATED [] +synonym: "osteogenesis imperfecta type 1" EXACT CLINGEN_LABEL [DOID:0110334, icd11.foundation:1897905410, Orphanet:216796] +synonym: "osteogenesis imperfecta type I" EXACT [DOID:0110334, NCIT:C99003] +synonym: "osteogenesis imperfecta with blue sclerae" RELATED [] +synonym: "osteogenesis imperfecta, type 1" RELATED [] +synonym: "osteogenesis imperfecta, type I" RELATED [] +synonym: "Van der Hoeve syndrome" EXACT [icd11.foundation:1897905410, Orphanet:216796] xref: DOID:0110334 {source="MONDO:equivalentTo"} xref: GARD:8694 {source="MONDO:GARD"} xref: ICD10CM:Q78.0 {source="Orphanet:216796/attributed", source="Orphanet:216796/ntbt", source="DOID:0110334", source="Orphanet:216796"} @@ -168298,15 +168319,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lethal osteogenesis imperfecta" EXACT [Orphanet:216804] synonym: "OI type 2" EXACT [Orphanet:216804] -synonym: "OI, type 2" RELATED [OMIM:166210] -synonym: "OI2" EXACT ABBREVIATION [DOID:0110341] -synonym: "osteogenesis imperfecta congenita" RELATED [OMIM:166210] +synonym: "OI, type 2" RELATED [] +synonym: "OI2" EXACT ABBREVIATION [DOID:0110341, OMIM:166210] +synonym: "osteogenesis imperfecta congenita" RELATED [] synonym: "osteogenesis imperfecta congenita perinatal lethal form" RELATED [GARD:0010142] -synonym: "osteogenesis imperfecta congenita, perinatal lethal form" RELATED [OMIM:166210] -synonym: "osteogenesis imperfecta type 2" EXACT CLINGEN_LABEL [] -synonym: "osteogenesis imperfecta type II" EXACT [DOID:0110341] -synonym: "osteogenesis imperfecta, type 2" RELATED [OMIM:166210] -synonym: "osteogenesis imperfecta, type II" RELATED [OMIM:166210] +synonym: "osteogenesis imperfecta congenita, perinatal lethal form" RELATED [] +synonym: "osteogenesis imperfecta type 2" EXACT CLINGEN_LABEL [DOID:0110341, icd11.foundation:2024049157, Orphanet:216804] +synonym: "osteogenesis imperfecta type II" EXACT [DOID:0110341, NCIT:C99001] +synonym: "osteogenesis imperfecta, type 2" RELATED [] +synonym: "osteogenesis imperfecta, type II" RELATED [] synonym: "perinatal lethal osteogenesis imperfecta congenita" EXACT [DOID:0110341] synonym: "Perinatally lethal OI" RELATED [GARD:0010142] synonym: "Vrolik type of osteogenesis imperfecta" EXACT [DOID:0110341, OMIM:166210] @@ -168339,13 +168360,13 @@ subset: rare synonym: "common variable OI with normal sclerae" RELATED [GARD:0008696] synonym: "OI type 4" EXACT [Orphanet:216820] synonym: "OI type IV" RELATED [GARD:0008696] -synonym: "OI, type 4" RELATED [OMIM:166220] +synonym: "OI, type 4" RELATED [] synonym: "OI4" EXACT ABBREVIATION [DOID:0110340, OMIM:166220] -synonym: "osteogenesis imperfecta type IV" EXACT [DOID:0110340] +synonym: "osteogenesis imperfecta type IV" EXACT [DOID:0110340, NCIT:C98576] synonym: "osteogenesis imperfecta with normal sclera" EXACT [DOID:0110340] -synonym: "osteogenesis imperfecta with normal sclerae" RELATED [OMIM:166220] -synonym: "osteogenesis imperfecta, type 4" RELATED [OMIM:166220] -synonym: "osteogenesis imperfecta, type IV" RELATED [OMIM:166220] +synonym: "osteogenesis imperfecta with normal sclerae" RELATED [] +synonym: "osteogenesis imperfecta, type 4" RELATED [] +synonym: "osteogenesis imperfecta, type IV" RELATED [] xref: DOID:0110340 {source="MONDO:equivalentTo"} xref: GARD:8696 {source="MONDO:GARD"} xref: ICD10CM:Q78.0 {source="Orphanet:216820", source="Orphanet:216820/attributed", source="Orphanet:216820/ntbt", source="DOID:0110340"} @@ -168368,7 +168389,7 @@ name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bo def: "An osteogenesis imperfecta found in a single South African family." [DOID:0110335, PMID:7241530] subset: gard_rare {source="GARD:15100", source="MONDO:GARD"} subset: rare -synonym: "osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures" RELATED [OMIM:166230] +synonym: "osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures" RELATED [] xref: DOID:0110335 {source="MONDO:equivalentTo"} xref: GARD:15100 {source="MONDO:GARD"} xref: ICD10CM:Q78.0 {source="DOID:0110335"} @@ -168392,10 +168413,10 @@ subset: orphanet_rare {source="Orphanet:2645"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Fairbank-Keats syndrome" RELATED [GARD:0004142] -synonym: "OGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:166250] -synonym: "osteoglophonic dwarfism" EXACT CLINGEN_LABEL [OMIM:166250] -synonym: "OSTEOGLOPHONIC dysplasia" RELATED [MONDO:Lexical, OMIM:166250] -synonym: "Osteoglosphonic dysplasia" RELATED [Orphanet:2645] +synonym: "OGD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "osteoglophonic dwarfism" EXACT CLINGEN_LABEL [DOID:0111532, OMIM:166250, Orphanet:2645] +synonym: "OSTEOGLOPHONIC dysplasia" RELATED [MONDO:Lexical] +synonym: "Osteoglosphonic dysplasia" RELATED [] xref: DOID:0111532 {source="MONDO:equivalentTo"} xref: GARD:4142 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2645", source="Orphanet:2645/attributed", source="Orphanet:2645/ntbt"} @@ -168423,13 +168444,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:53697"} subset: orphanet_rare {source="Orphanet:53697"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:166260, Orphanet:53697] -synonym: "GNATHODIAPHYSEAL dysplasia" RELATED [OMIM:166260] -synonym: "gnathodiaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:166260] -synonym: "Gnathodiaphyseal sclerosis" RELATED [OMIM:166260] +synonym: "GDD" EXACT ABBREVIATION [DOID:0111533, MONDO:Lexical, OMIM:166260, Orphanet:53697] +synonym: "GNATHODIAPHYSEAL dysplasia" RELATED [] +synonym: "gnathodiaphyseal dysplasia" EXACT [DOID:0111533, icd11.foundation:1984860886, MONDO:Lexical, OMIM:166260, Orphanet:53697] +synonym: "Gnathodiaphyseal sclerosis" RELATED [] synonym: "Levin syndrome 2" RELATED [GARD:0008698] synonym: "osteogenesis imperfecta Levin type" RELATED [GARD:0008698] -synonym: "osteogenesis imperfecta with unusual skeletal lesions" RELATED [OMIM:166260] +synonym: "osteogenesis imperfecta with unusual skeletal lesions" RELATED [] xref: DOID:0111533 {source="MONDO:equivalentTo"} xref: GARD:8698 {source="MONDO:GARD"} xref: icd11.foundation:1984860886 {source="MONDO:equivalentTo"} @@ -168459,13 +168480,13 @@ subset: orphanet_rare {source="Orphanet:2774"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Carnevale canun Mendoza syndrome" RELATED [GARD:0003818] -synonym: "idiopathic multicentric osteolysis with or without nephropathy" EXACT [GARD:0003818, Orphanet:2774] -synonym: "MCTO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:166300] -synonym: "multicentric carpo-tarsal osteolysis with or without nephropathy" EXACT [GARD:0003818, GARD:0013042] -synonym: "multicentric carpotarsal osteolysis syndrome" RELATED [MONDO:Lexical, OMIM:166300] +synonym: "idiopathic multicentric osteolysis with or without nephropathy" EXACT [DOID:0111534, GARD:0003818, Orphanet:2774] +synonym: "MCTO" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "multicentric carpo-tarsal osteolysis with or without nephropathy" EXACT [DOID:0111534, GARD:0003818, GARD:0013042, Orphanet:2774] +synonym: "multicentric carpotarsal osteolysis syndrome" RELATED [MONDO:Lexical] synonym: "multicentric osteolysis nephropathy" RELATED [GARD:0003818] -synonym: "multicentric osteolysis, autosomal dominant" RELATED [OMIM:166300] -synonym: "osteolysis, hereditary, of carpal bones with or without nephropathy" RELATED [OMIM:166300] +synonym: "multicentric osteolysis, autosomal dominant" RELATED [] +synonym: "osteolysis, hereditary, of carpal bones with or without nephropathy" RELATED [] xref: DOID:0111534 {source="MONDO:equivalentTo"} xref: GARD:3818 {source="MONDO:GARD"} xref: MEDGEN:436237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -168491,11 +168512,12 @@ subset: orphanet_rare {source="Orphanet:2762"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ectopic ossification familial type" RELATED [GARD:0000109] -synonym: "ectopic ossification, familial" RELATED [OMIM:166350] -synonym: "familial ectopic ossification" EXACT [Orphanet:2762] -synonym: "osseous heteroplasia, progressive" RELATED [MONDO:Lexical, OMIM:166350] -synonym: "osteoma cutis" RELATED [OMIM:166350] -synonym: "poh" EXACT [MONDO:Lexical, OMIM:166350, Orphanet:2762] +synonym: "ectopic ossification, familial" RELATED [] +synonym: "familial ectopic ossification" EXACT [DOID:0111535, icd11.foundation:1107209347, Orphanet:2762] +synonym: "osseous heteroplasia, progressive" RELATED [MONDO:Lexical] +synonym: "osteoma cutis" RELATED [] +synonym: "POH" EXACT ABBREVIATION [DOID:0111535, OMIM:166350, Orphanet:2762] +synonym: "poh" EXACT [MONDO:Lexical] xref: DOID:0111535 {source="MONDO:equivalentTo"} xref: GARD:109 {source="MONDO:GARD"} xref: ICD10CM:M61.5 {source="Orphanet:2762", source="Orphanet:2762/attributed", source="Orphanet:2762/ntbt"} @@ -168541,7 +168563,7 @@ subset: orphanet_rare {source="Orphanet:2777"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "axial osteosclerosis" EXACT [OMIM:166450, Orphanet:2777] -synonym: "osteomesopyknosis" EXACT [OMIM:166450] +synonym: "osteomesopyknosis" EXACT [icd11.foundation:455371627, OMIM:166450, Orphanet:2777] xref: GARD:391 {source="MONDO:GARD"} xref: ICD10CM:Q78.2 {source="Orphanet:2777", source="Orphanet:2777/attributed", source="Orphanet:2777/ntbt"} xref: icd11.foundation:455371627 {source="MONDO:equivalentTo"} @@ -168565,19 +168587,19 @@ subset: ordo_malformation_syndrome {source="Orphanet:53"} subset: orphanet_rare {source="Orphanet:53"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Albers-Schonberg disease, autosomal dominant" RELATED [OMIM:166600] +synonym: "Albers-Schonberg disease, autosomal dominant" RELATED [] synonym: "Albers-Schonberg osteopetrosis" EXACT [DOID:0110938] synonym: "Albers-Schönberg osteopetrosis" EXACT [Orphanet:53] synonym: "autosomal dominant Albers-Schonberg disease" EXACT [DOID:0110938] -synonym: "autosomal dominant osteopetrosis type 2" EXACT [DOID:0110938, MONDORULE:1] +synonym: "autosomal dominant osteopetrosis type 2" EXACT [MONDORULE:1] synonym: "autosomal dominant osteopetrosis type II" EXACT [DOID:0110938] -synonym: "marble bones, autosomal dominant" RELATED [OMIM:166600] +synonym: "marble bones, autosomal dominant" RELATED [] synonym: "OPTA2" EXACT ABBREVIATION [DOID:0110938, MONDO:Lexical, OMIM:166600] synonym: "osteopetrosis autosomal dominant type 2" EXACT [DOID:0110938, Orphanet:53] -synonym: "osteopetrosis, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:166600] -synonym: "osteopetrosis, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:166600] -synonym: "osteopetrosis, autosomal dominant, type 2" RELATED [OMIM:166600] -synonym: "osteosclerosis Fragilis generalisata" RELATED [OMIM:166600] +synonym: "osteopetrosis, autosomal dominant 2" RELATED [MONDO:Lexical] +synonym: "osteopetrosis, autosomal dominant type 2" EXACT [MONDORULE:1] +synonym: "osteopetrosis, autosomal dominant, type 2" RELATED [] +synonym: "osteosclerosis Fragilis generalisata" RELATED [] xref: DOID:0110938 {source="MONDO:equivalentTo"} xref: GARD:383 {source="MONDO:GARD"} xref: ICD10CM:Q78.2 {source="Orphanet:53", source="Orphanet:53/ntbt", source="DOID:0110938", source="Orphanet:53/inclusion"} @@ -168603,19 +168625,19 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:1306"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bos" RELATED [MONDO:Lexical, OMIM:166700] +synonym: "Bos" RELATED [MONDO:Lexical] synonym: "Buschke Ollendorff syndrome" RELATED [GARD:0001044] -synonym: "Buschke-Ollendorff syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:166700] -synonym: "dermatofibrosis lenticularis disseminata with osteopoikilosis" RELATED [OMIM:166700] -synonym: "dermatofibrosis lenticularis disseminata, isolated" RELATED [OMIM:166700] +synonym: "Buschke-Ollendorff syndrome" EXACT CLINGEN_LABEL [DOID:0111536, icd11.foundation:1556522143, MONDO:Lexical, OMIM:166700] +synonym: "dermatofibrosis lenticularis disseminata with osteopoikilosis" RELATED [] +synonym: "dermatofibrosis lenticularis disseminata, isolated" RELATED [] synonym: "dermatofibrosis, disseminated with osteopoikilosis" RELATED [GARD:0001044] -synonym: "dermatofibrosis, disseminated, with osteopoikilosis" RELATED [OMIM:166700] -synonym: "Dermatoosteopoikilosis" RELATED [OMIM:166700] -synonym: "disseminated dermatofibrosis with osteopoikilosis" EXACT [Orphanet:1306] -synonym: "osteopathia condensans disseminata" RELATED [OMIM:166700] -synonym: "osteopoikilosis with melorheostosis" RELATED [OMIM:166700] -synonym: "osteopoikilosis with or without melorheostosis" EXACT [OMIM:166700, OMIM:genemap2] -synonym: "osteopoikilosis, isolated" RELATED [OMIM:166700] +synonym: "dermatofibrosis, disseminated, with osteopoikilosis" RELATED [] +synonym: "Dermatoosteopoikilosis" RELATED [] +synonym: "disseminated dermatofibrosis with osteopoikilosis" EXACT [DOID:0111536] +synonym: "osteopathia condensans disseminata" RELATED [] +synonym: "osteopoikilosis with melorheostosis" RELATED [] +synonym: "osteopoikilosis with or without melorheostosis" EXACT [] +synonym: "osteopoikilosis, isolated" RELATED [] xref: DOID:0111536 {source="MONDO:equivalentTo"} xref: GARD:1044 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:1306/attributed", source="Orphanet:1306/ntbt", source="Orphanet:1306"} @@ -168647,8 +168669,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dacryocystitis osteopoikilosis" RELATED [GARD:0000351] synonym: "Gunal Seber Basaran syndrome" RELATED [GARD:0000351] -synonym: "Gunal-Seber-Basaran syndrome" EXACT [Orphanet:1562] -synonym: "osteopoikilosis and dacryocystitis" RELATED [OMIM:166705] +synonym: "Gunal-Seber-Basaran syndrome" EXACT [] +synonym: "osteopoikilosis and dacryocystitis" RELATED [] xref: GARD:351 {source="MONDO:GARD"} xref: MEDGEN:318939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536061 {source="Orphanet:1562", source="MONDO:equivalentTo", source="Orphanet:1562/e"} @@ -168667,8 +168689,8 @@ def: "Metabolic disorder associated with fractures of the femoral neck, vertebra subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone mineral density quantitative trait locus" RELATED [OMIM:166710] -synonym: "osteoporosis, postmenopausal" RELATED [OMIM:166710] +synonym: "bone mineral density quantitative trait locus" RELATED [] +synonym: "osteoporosis, postmenopausal" RELATED [] xref: EFO:0003854 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:123797893 {source="MONDO:equivalentTo"} xref: MEDGEN:10498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -168680,7 +168702,7 @@ is_a: MONDO:0005298 {source="DC-OMIM:166710", source="EFO:0003854", source="MESH [Term] id: MONDO:0008160 name: osteosclerosis with ichthyosis and fractures -synonym: "cortical thickening of long bones with bowing and ichthyosis" RELATED [OMIM:166740] +synonym: "cortical thickening of long bones with bowing and ichthyosis" RELATED [] synonym: "osteosclerosis with ichthyosis and fractures" EXACT [OMIM:166740] xref: MEDGEN:331568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563483 {source="MONDO:equivalentTo"} @@ -168699,13 +168721,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:2791"} subset: orphanet_rare {source="Orphanet:2791"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 11q13 deletion syndrome" RELATED [OMIM:166750] +synonym: "chromosome 11q13 deletion syndrome" RELATED [] synonym: "globodontia" EXACT [Orphanet:2791] -synonym: "oculootodental syndrome" RELATED [OMIM:166750] -synonym: "otodental dysplasia" EXACT [Orphanet:2791] -synonym: "otodental dysplasia chromosome deletion syndrome" EXACT [OMIM:166750, OMIM:genemap2] -synonym: "otodental syndrome" EXACT [OMIM:166750] -synonym: "otodental syndrome with coloboma" RELATED [OMIM:166750] +synonym: "oculootodental syndrome" RELATED [] +synonym: "otodental dysplasia" EXACT [OMIM:166750, Orphanet:2791] +synonym: "otodental dysplasia chromosome deletion syndrome" EXACT [] +synonym: "otodental syndrome" EXACT [OMIM:166750, Orphanet:2791] +synonym: "otodental syndrome with coloboma" RELATED [] xref: GARD:4168 {source="MONDO:GARD"} xref: ICD10CM:K00.2 {source="Orphanet:2791/attributed", source="Orphanet:2791/ntbt", source="Orphanet:2791"} xref: MEDGEN:318937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -168722,9 +168744,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008162 name: otitis media, susceptibility to subset: predisposition -synonym: "come/Rom" RELATED [OMIM:166760] -synonym: "OMS" RELATED ABBREVIATION [OMIM:166760] -synonym: "otitis Media, chronic/recurrent" RELATED [OMIM:166760] +synonym: "come/Rom" RELATED [] +synonym: "OMS" RELATED ABBREVIATION [] +synonym: "otitis Media, chronic/recurrent" RELATED [] synonym: "otitis media, susceptibility to" EXACT [OMIM:166760] xref: MEDGEN:318936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:166760 {source="MONDO:equivalentTo"} @@ -168767,9 +168789,9 @@ id: MONDO:0008164 name: otosclerosis 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "otosclerosis 1" EXACT [MONDO:Lexical, OMIM:166800] -synonym: "OTS" RELATED ABBREVIATION [OMIM:166800] -synonym: "OTSC1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:166800] +synonym: "otosclerosis 1" EXACT [DOID:0060920, MONDO:Lexical, OMIM:166800] +synonym: "OTS" RELATED ABBREVIATION [] +synonym: "OTSC1" EXACT ABBREVIATION [DOID:0060920, MONDO:Lexical, OMIM:166800] xref: DOID:0060920 {source="MONDO:equivalentTo"} xref: MEDGEN:1639517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:166800 {source="MONDO:equivalentTo"} @@ -168788,17 +168810,18 @@ subset: ordo_disorder {source="Orphanet:98868"} subset: orphanet_rare {source="Orphanet:98868"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "elliptocytosis 4" RELATED [OMIM:166900] -synonym: "elliptocytosis, stomatocytic hereditary" RELATED [OMIM:166900] -synonym: "he, stomatocytic" RELATED [OMIM:166900] -synonym: "hereditary ovalocytosis" BROAD [Orphanet:98868] +synonym: "elliptocytosis 4" RELATED [] +synonym: "elliptocytosis, stomatocytic hereditary" RELATED [] +synonym: "he, stomatocytic" RELATED [] +synonym: "hereditary ovalocytosis" BROAD [] synonym: "Melanesian elliptocytosis" EXACT [Orphanet:98868] synonym: "Melanesian ovalocytosis" EXACT [Orphanet:98868] -synonym: "ovalocytosis, hereditary hemolytic" RELATED [OMIM:166900] -synonym: "ovalocytosis, Malaysian-Melanesian-Filipino type" RELATED [OMIM:166900] -synonym: "ovalocytosis, SA type" EXACT [OMIM:166900, OMIM:genemap2] -synonym: "ovalocytosis, southeast Asian" RELATED [OMIM:166900] -synonym: "sao" EXACT [Orphanet:98868] +synonym: "ovalocytosis, hereditary hemolytic" RELATED [] +synonym: "ovalocytosis, Malaysian-Melanesian-Filipino type" RELATED [] +synonym: "ovalocytosis, SA type" EXACT [] +synonym: "ovalocytosis, southeast Asian" RELATED [] +synonym: "SAO" EXACT ABBREVIATION [OMIM:166900, Orphanet:98868] +synonym: "sao" EXACT [] synonym: "stomatocytic elliptocytosis" EXACT [Orphanet:98868] xref: GARD:16867 {source="MONDO:GARD"} xref: ICD10CM:D58.1 {source="Orphanet:98868", source="Orphanet:98868/attributed", source="Orphanet:98868/ntbt"} @@ -168832,14 +168855,14 @@ def: "A cystic teratoma that arises from the ovary. It presents as a cystic mass subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "dermoid cyst" RELATED EXCLUDE [DOID:5117] -synonym: "dermoid cyst (& [ovarian])" EXACT [DOID:5117] -synonym: "dermoid cyst of ovary" EXACT [DOID:5117, NCIT:C3856] +synonym: "dermoid cyst" RELATED EXCLUDE [] +synonym: "dermoid cyst (& [ovarian])" EXACT [] +synonym: "dermoid cyst of ovary" EXACT [DOID:5117, icd11.foundation:1067463359, NCIT:C3856] synonym: "dermoid cyst of the ovary" EXACT [NCIT:C3856] -synonym: "dermoid cyst, ovarian" RELATED [OMIM:166950] +synonym: "dermoid cyst, ovarian" RELATED [] synonym: "ovarian dermoid cyst" EXACT [DOID:5117, NCIT:C3856] synonym: "ovary dermoid cyst" EXACT [MONDO:patterns/location] -synonym: "teratoma, ovarian" RELATED [OMIM:166950] +synonym: "teratoma, ovarian" RELATED [] xref: DOID:5117 {source="MONDO:equivalentTo"} xref: icd11.foundation:1067463359 {source="MONDO:equivalentTo"} xref: MEDGEN:68637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -168867,9 +168890,9 @@ subset: orphanet_rare {source="Orphanet:314473"} subset: rare synonym: "fibroma of ovary" EXACT [NCIT:C3498] synonym: "fibroma of the ovary" EXACT [NCIT:C3498] -synonym: "ovarian fibroma" EXACT [MONDO:ambiguous, NCIT:C3498] +synonym: "ovarian fibroma" EXACT [icd11.foundation:871413134, MONDO:ambiguous, NCIT:C3498, Orphanet:314473] synonym: "ovarian fibroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "ovarian fibromata" RELATED [OMIM:166970] +synonym: "ovarian fibromata" RELATED [] xref: GARD:21375 {source="MONDO:GARD"} xref: HP:0010618 {source="MONDO:otherHierarchy"} xref: ICD10CM:D27 {source="Orphanet:314473/ntbt", source="Orphanet:314473"} @@ -168906,7 +168929,7 @@ subset: gard_rare {source="GARD:7295", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:213500"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of ovary" EXACT [MONDO:patterns/cancer, NCIT:C7431] +synonym: "cancer of ovary" EXACT [icd11.foundation:685124533, MONDO:patterns/cancer, NCIT:C7431] synonym: "cancer of the ovary" EXACT [NCIT:C7431] synonym: "malignant neoplasm of ovary" EXACT [MONDO:patterns/cancer, NCIT:C7431] synonym: "malignant neoplasm of the ovary" EXACT [NCIT:C7431] @@ -168914,21 +168937,21 @@ synonym: "malignant ovarian neoplasm" EXACT [NCIT:C7431] synonym: "malignant ovarian tumor" EXACT [DOID:2394, NCIT:C7431] synonym: "malignant ovarian tumour" EXACT OMO:0003005 [] synonym: "malignant ovary neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant tumor of ovary" EXACT [DOID:2394, NCIT:C7431] +synonym: "malignant tumor of ovary" EXACT [NCIT:C7431] synonym: "malignant tumor of the ovary" EXACT [NCIT:C7431] -synonym: "malignant tumour of ovary" EXACT OMO:0003005 [] +synonym: "malignant tumour of ovary" EXACT OMO:0003005 [DOID:2394, icd11.foundation:685124533] synonym: "malignant tumour of the ovary" EXACT OMO:0003005 [] -synonym: "ovarian cancer" EXACT [NCIT:C7431, OMIM:167000] -synonym: "ovarian cancer, epithelial" RELATED [OMIM:167000] -synonym: "ovarian cancer, NOS" RELATED EXCLUDE [NCIT:C7431] -synonym: "ovarian cancer, somatic" EXACT [OMIM:167000, OMIM:genemap2] +synonym: "ovarian cancer" EXACT [DOID:2394, icd11.foundation:685124533, NCIT:C7431, OMIM:167000, Orphanet:213500] +synonym: "ovarian cancer, epithelial" RELATED [] +synonym: "ovarian cancer, NOS" RELATED EXCLUDE [] +synonym: "ovarian cancer, somatic" EXACT [] synonym: "ovarian malignant tumor" EXACT [Orphanet:213500] synonym: "ovarian malignant tumour" EXACT OMO:0003005 [] -synonym: "ovarian neoplasm" BROAD [DOID:2394, MTH:NOCODE] -synonym: "ovary cancer" EXACT [MONDO:patterns/location] -synonym: "ovary neoplasm" BROAD [DOID:2394] -synonym: "primary ovarian cancer" RELATED [DOID:2394] -synonym: "tumor of the ovary" BROAD [DOID:2394, NCIT:C4984] +synonym: "ovarian neoplasm" BROAD [MTH:NOCODE] +synonym: "ovary cancer" EXACT [icd11.foundation:685124533, MONDO:patterns/location] +synonym: "ovary neoplasm" BROAD [] +synonym: "primary ovarian cancer" RELATED [] +synonym: "tumor of the ovary" BROAD [] synonym: "tumour of the ovary" BROAD OMO:0003005 [] xref: DOID:2394 {source="MONDO:equivalentTo"} xref: GARD:7295 {source="MONDO:GARD"} @@ -168959,14 +168982,14 @@ id: MONDO:0008171 name: nephrolithiasis def: "The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "calculus of kidney and ureter" EXACT [DOID:585] -synonym: "CAON" RELATED ABBREVIATION [OMIM:167030] +synonym: "calculus of kidney and ureter" EXACT [] +synonym: "CAON" RELATED ABBREVIATION [] synonym: "kidney stone" EXACT [NCIT:C114667] synonym: "kidney stones" EXACT [DOID:585] -synonym: "nephrolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030] +synonym: "nephrolithiasis, calcium oxalate" RELATED [] synonym: "renal calculi" EXACT [NCIT:C114667] synonym: "Stone - kidney/ureter" EXACT [DOID:585] -synonym: "urolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030] +synonym: "urolithiasis, calcium oxalate" RELATED [] xref: DOID:585 {source="MONDO:equivalentTo", source="EFO:0004253"} xref: EFO:0004253 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:N20 {source="DOID:585"} @@ -168993,9 +169016,9 @@ subset: gard_rare {source="GARD:15101", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hypertrophic osteoarthropathy, primary, autosomal dominant" EXACT [MONDO:Lexical, OMIM:167100] -synonym: "pachydermoperiostosis, autosomal dominant" RELATED [OMIM:167100] -synonym: "PDP, autosomal dominant" RELATED [OMIM:167100] -synonym: "Pho, autosomal dominant" RELATED [OMIM:167100] +synonym: "pachydermoperiostosis, autosomal dominant" RELATED [] +synonym: "PDP, autosomal dominant" RELATED [] +synonym: "Pho, autosomal dominant" RELATED [] synonym: "PHOAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:167100] xref: GARD:15101 {source="MONDO:GARD"} xref: MEDGEN:382429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -169015,15 +169038,15 @@ def: "Any pachyonychia congenita in which the cause of the disease is a mutation subset: gard_rare {source="GARD:15102", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Jadassohn-Lewandowsky syndrome" RELATED [OMIM:167200] -synonym: "Jadassohn-Lewandowsky syndrome, formerly" RELATED [OMIM:167200] +synonym: "Jadassohn-Lewandowsky syndrome" RELATED [] +synonym: "Jadassohn-Lewandowsky syndrome, formerly" RELATED [] synonym: "KRT16 pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pachyonychia congenita 1" EXACT [MONDO:Lexical, OMIM:167200] synonym: "pachyonychia congenita caused by mutation in KRT16" EXACT [MONDO:design_pattern] -synonym: "pachyonychia congenita type 1" EXACT [MONDORULE:1, OMIM:167200] -synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" RELATED [OMIM:167200] -synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type, formerly" RELATED [OMIM:167200] -synonym: "PC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:167200] +synonym: "pachyonychia congenita type 1" EXACT [MONDORULE:1] +synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" RELATED [] +synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type, formerly" RELATED [] +synonym: "PC1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15102 {source="MONDO:GARD"} xref: MEDGEN:353335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:167200 {source="MONDO:equivalentTo"} @@ -169045,10 +169068,10 @@ subset: rare synonym: "KRT17 pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pachyonychia congenita 2" EXACT [MONDO:Lexical, OMIM:167210] synonym: "pachyonychia congenita caused by mutation in KRT17" EXACT [MONDO:design_pattern] -synonym: "pachyonychia congenita type 2" EXACT [MONDORULE:1, OMIM:167210] -synonym: "pachyonychia congenita, Jackson-Lawler type" RELATED [OMIM:167210] -synonym: "pachyonychia congenita, Jackson-Lawler type, formerly" RELATED [OMIM:167210] -synonym: "PC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:167210] +synonym: "pachyonychia congenita type 2" EXACT [MONDORULE:1] +synonym: "pachyonychia congenita, Jackson-Lawler type" RELATED [] +synonym: "pachyonychia congenita, Jackson-Lawler type, formerly" RELATED [] +synonym: "PC2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15103 {source="MONDO:GARD"} xref: MEDGEN:314107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:167210 {source="MONDO:equivalentTo"} @@ -169070,9 +169093,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1952"} subset: orphanet_rare {source="Orphanet:1952"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome" EXACT [Orphanet:1952] -synonym: "epiphyseal stippling with osteoclastic hyperplasia" RELATED [OMIM:167220] -synonym: "pacman dysplasia" EXACT [OMIM:167220] +synonym: "epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome" EXACT [] +synonym: "epiphyseal stippling with osteoclastic hyperplasia" RELATED [] +synonym: "pacman dysplasia" EXACT [icd11.foundation:519938437, OMIM:167220, Orphanet:1952] synonym: "Pacman syndrome" RELATED [GARD:0004189] xref: GARD:4189 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:1952", source="Orphanet:1952/attributed", source="Orphanet:1952/ntbt"} @@ -169093,9 +169116,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "familial Paget disease of bone" RELATED [GARD:0004191] synonym: "Paget disease of bone 3" EXACT [MONDO:Lexical, OMIM:167250] -synonym: "Paget disease of bone type 3" EXACT [MONDORULE:1, OMIM:167250] +synonym: "Paget disease of bone type 3" EXACT [MONDORULE:1] synonym: "Paget disease of bone, familial" RELATED [GARD:0004191] -synonym: "PDB3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:167250] +synonym: "PDB3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081366 {source="MONDO:equivalentTo"} xref: MEDGEN:895927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:167250 {source="MONDO:equivalentTo"} @@ -169117,12 +169140,12 @@ subset: ordo_disorder {source="Orphanet:2800"} subset: orphanet_rare {source="Orphanet:2800"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cutaneous Paget's disease" RELATED [NCIT:C3302] +synonym: "cutaneous Paget's disease" RELATED [] synonym: "EMPD" RELATED ABBREVIATION [GARD:0004192] -synonym: "extramammary Paget disease" EXACT [MONDO:0006204, NCIT:C3302] +synonym: "extramammary Paget disease" EXACT [MONDO:0006204, NCIT:C3302, Orphanet:2800] synonym: "Extramammary Paget's disease" EXACT [NCIT:C3302] synonym: "Paget disease Extramammary" EXACT [NCIT:C3302] -synonym: "Paget disease, EXTRAMAMMARY" RELATED [OMIM:167300] +synonym: "Paget disease, EXTRAMAMMARY" RELATED [] synonym: "Paget's disease of skin" EXACT [NCIT:C3302] synonym: "Paget's disease of the skin" EXACT [NCIT:C3302] synonym: "Paget's skin disease" EXACT [NCIT:C3302] @@ -169150,14 +169173,14 @@ def: "A rare autosomal dominant inherited disorder caused by mutations in the VC subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IBMPFD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:167320] -synonym: "inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1" EXACT [OMIM:167320, OMIM:genemap2] -synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1" RELATED [MONDO:Lexical, OMIM:167320] -synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1" EXACT [MONDORULE:1, OMIM:167320] -synonym: "lower motor neuron degeneration with Paget-like bone disease" RELATED [OMIM:167320] -synonym: "multisystem proteinopathy 1" RELATED [OMIM:167320] -synonym: "muscular dystrophy, limb-girdle, with Paget disease of bone" RELATED [OMIM:167320] -synonym: "pagetoid amyotrophic lateral sclerosis" RELATED [OMIM:167320] +synonym: "IBMPFD1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1" EXACT [] +synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1" RELATED [MONDO:Lexical] +synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1" EXACT [MONDORULE:1] +synonym: "lower motor neuron degeneration with Paget-like bone disease" RELATED [] +synonym: "multisystem proteinopathy 1" RELATED [] +synonym: "muscular dystrophy, limb-girdle, with Paget disease of bone" RELATED [] +synonym: "pagetoid amyotrophic lateral sclerosis" RELATED [] xref: DOID:0111385 {source="MONDO:equivalentTo"} xref: MEDGEN:1641069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563476 {source="MONDO:equivalentTo"} @@ -169179,13 +169202,13 @@ subset: ordo_disorder {source="Orphanet:46348"} subset: orphanet_rare {source="Orphanet:46348"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial rectal pain" EXACT [Orphanet:46348] +synonym: "familial rectal pain" EXACT [DOID:0111537, Orphanet:46348] synonym: "familial rectal syndrome" RELATED [GARD:0012854] -synonym: "pain, submandibular, ocular, and rectal, with flushing" RELATED [OMIM:167400] -synonym: "paroxysmal extreme pain disorder" EXACT [OMIM:167400] +synonym: "pain, submandibular, ocular, and rectal, with flushing" RELATED [] +synonym: "paroxysmal extreme pain disorder" EXACT [DOID:0111537, icd11.foundation:9604457, NCIT:C125385, OMIM:167400, Orphanet:46348] synonym: "PEPD" RELATED ABBREVIATION [GARD:0012854] -synonym: "Pexpd" RELATED [OMIM:167400] -synonym: "rectal pain, familial" RELATED [OMIM:167400] +synonym: "Pexpd" RELATED [] +synonym: "rectal pain, familial" RELATED [] synonym: "submandibular, ocular, and rectal pain with flushing" RELATED [GARD:0012854] xref: DOID:0111537 {source="MONDO:equivalentTo"} xref: GARD:12854 {source="MONDO:GARD"} @@ -169212,9 +169235,9 @@ subset: ordo_disorder {source="Orphanet:2291"} subset: ordo_malformation_syndrome {source="Orphanet:2291"} subset: orphanet_rare {source="Orphanet:2291"} subset: rare -synonym: "palatopharyngeal incompetence" RELATED [OMIM:167500] -synonym: "velopharyngeal incompetence" RELATED [OMIM:167500] -synonym: "velopharyngeal insufficiency" RELATED [OMIM:167500] +synonym: "palatopharyngeal incompetence" RELATED [] +synonym: "velopharyngeal incompetence" RELATED [] +synonym: "velopharyngeal insufficiency" RELATED [] xref: GARD:5470 {source="MONDO:GARD"} xref: ICD10CM:J39.2 {source="Orphanet:2291/attributed", source="Orphanet:2291/ntbt", source="Orphanet:2291"} xref: icd11.foundation:158386351 {source="MONDO:equivalentTo", source="Orphanet:2291"} @@ -169246,11 +169269,11 @@ subset: orphanet_rare {source="Orphanet:2399"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Nasopalpebral lipoma coloboma syndrome" RELATED [GARD:0003927] -synonym: "NASOPALPEBRAL lipoma-coloboma syndrome" RELATED [OMIM:167730] -synonym: "nasopalpebral lipoma-coloboma syndrome" EXACT [OMIM:167730] -synonym: "NPLCS" RELATED ABBREVIATION [OMIM:167730] +synonym: "NASOPALPEBRAL lipoma-coloboma syndrome" RELATED [] +synonym: "nasopalpebral lipoma-coloboma syndrome" EXACT [OMIM:167730, Orphanet:2399] +synonym: "NPLCS" RELATED ABBREVIATION [] synonym: "palpebral coloboma lipoma syndrome" RELATED [GARD:0003927] -synonym: "palpebral coloboma-lipoma syndrome" RELATED [OMIM:167730] +synonym: "palpebral coloboma-lipoma syndrome" RELATED [] xref: GARD:3927 {source="MONDO:GARD"} xref: ICD10CM:Q10.3 {source="Orphanet:2399", source="Orphanet:2399/attributed", source="Orphanet:2399/ntbt"} xref: MEDGEN:358378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -169276,7 +169299,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:675"} subset: orphanet_rare {source="Orphanet:675"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pancreas, annular" RELATED [OMIM:167750] +synonym: "pancreas, annular" RELATED [] xref: DOID:0060850 {source="MONDO:equivalentTo"} xref: GARD:705 {source="MONDO:GARD"} xref: ICD10CM:Q45.1 {source="Orphanet:675", source="Orphanet:675/attributed", source="Orphanet:675/ntbt", source="DOID:0060850", source="MONDO:equivalentTo"} @@ -169327,19 +169350,19 @@ subset: predisposition subset: rare synonym: "autosomal dominant hereditary pancreatitis" RELATED [MESH:C537262] synonym: "familial pancreatitis" RELATED [MESH:C537262] -synonym: "hereditary chronic pancreatitis" EXACT CLINGEN_LABEL [GARD:0006632, MESH:C537262, MONDO:patterns/hereditary] +synonym: "hereditary chronic pancreatitis" EXACT CLINGEN_LABEL [GARD:0006632, icd11.foundation:1287702961, MESH:C537262, MONDO:patterns/hereditary, Orphanet:676] synonym: "hereditary pancreatitis" EXACT [NCIT:C95436] -synonym: "Hp" RELATED [MESH:C537262, OMIM:167800] -synonym: "HPC" RELATED ABBREVIATION [MESH:C537262, OMIM:167800] -synonym: "pancreatitis, calcific" RELATED [OMIM:167800] +synonym: "Hp" RELATED [MESH:C537262] +synonym: "HPC" RELATED ABBREVIATION [MESH:C537262] +synonym: "pancreatitis, calcific" RELATED [] synonym: "pancreatitis, calcific, included" RELATED [MESH:C537262] -synonym: "pancreatitis, chronic" RELATED [OMIM:167800] +synonym: "pancreatitis, chronic" RELATED [] synonym: "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included" RELATED [MESH:C537262] -synonym: "pancreatitis, chronic, protection against" RELATED [OMIM:167800] +synonym: "pancreatitis, chronic, protection against" RELATED [] synonym: "pancreatitis, chronic, protection against, included" RELATED [MESH:C537262] -synonym: "pancreatitis, chronic, susceptibility to" RELATED [OMIM:167800] -synonym: "pancreatitis, hereditary" RELATED [MESH:C537262, MONDO:Lexical, OMIM:167800] -synonym: "PCTT" RELATED ABBREVIATION [MESH:C537262, MONDO:Lexical, OMIM:167800] +synonym: "pancreatitis, chronic, susceptibility to" RELATED [] +synonym: "pancreatitis, hereditary" RELATED [MESH:C537262, MONDO:Lexical] +synonym: "PCTT" RELATED ABBREVIATION [MESH:C537262, MONDO:Lexical] xref: GARD:6632 {source="MONDO:GARD"} xref: ICD10CM:K86.1 {source="Orphanet:676", source="Orphanet:676/attributed", source="Orphanet:676/ntbt"} xref: icd11.foundation:1287702961 {source="Orphanet:676", source="MONDO:equivalentTo"} @@ -169378,13 +169401,13 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008187 name: panic disorder 1 synonym: "PAND1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:167870] -synonym: "panic disorder" RELATED [OMIM:167870] +synonym: "panic disorder" RELATED [] synonym: "panic disorder 1" EXACT [MONDO:Lexical, OMIM:167870] -synonym: "panic disorder susceptibility locus, chromosome 13Q-related" RELATED [OMIM:167870] -synonym: "panic disorder syndrome 1" EXACT [OMIM:167870, OMIM:genemap2] -synonym: "panic disorder with bladder conditions" RELATED [OMIM:167870] -synonym: "panic disorder with Joint laxity" RELATED [OMIM:167870] -synonym: "panic disorder, susceptibility to" EXACT [OMIM:167870, OMIM:genemap2] +synonym: "panic disorder susceptibility locus, chromosome 13Q-related" RELATED [] +synonym: "panic disorder syndrome 1" EXACT [] +synonym: "panic disorder with bladder conditions" RELATED [] +synonym: "panic disorder with Joint laxity" RELATED [] +synonym: "panic disorder, susceptibility to" EXACT [] xref: MEDGEN:401493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:167870 {source="MONDO:equivalentTo"} xref: UMLS:C1868649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401493"} @@ -169396,10 +169419,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008188 name: papillomatosis, confluent and reticulated -synonym: "carp" RELATED [MONDO:Lexical, OMIM:167900] +synonym: "carp" RELATED [MONDO:Lexical] synonym: "papillomatosis, confluent and reticulated" EXACT [MONDO:Lexical, OMIM:167900] -synonym: "papillomatosis, familial cutaneous" RELATED [OMIM:167900] -synonym: "papillomatosis, reticulated and confluent, of Gougerot and Carteaud" RELATED [OMIM:167900] +synonym: "papillomatosis, familial cutaneous" RELATED [] +synonym: "papillomatosis, reticulated and confluent, of Gougerot and Carteaud" RELATED [] xref: MEDGEN:472991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566832 {source="MONDO:equivalentTo"} xref: OMIM:167900 {source="MONDO:equivalentTo"} @@ -169410,9 +169433,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008189 name: papillomatosis, florid, of nipple def: "A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis." [NCIT:P378] -synonym: "erosive adenomatosis of nipple" EXACT [NCIT:C4383] +synonym: "erosive adenomatosis of nipple" EXACT [] synonym: "erosive adenomatosis of the nipple" RELATED [GARD:0010174] -synonym: "erosive nipple adenomatosis" EXACT [NCIT:C4383] +synonym: "erosive nipple adenomatosis" EXACT [] synonym: "florid papillomatosis" RELATED [GARD:0010174] synonym: "florid papillomatosis of the nipple" RELATED [GARD:0010174] synonym: "papillomatosis florid of nipple" RELATED [GARD:0010174] @@ -169448,22 +169471,22 @@ subset: gard_rare {source="GARD:7324", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carotid body tumors" RELATED [OMIM:168000] +synonym: "carotid body tumors" RELATED [] synonym: "carotid body tumours" RELATED OMO:0003005 [] -synonym: "chemodectomas" RELATED [OMIM:168000] -synonym: "glomus jugulare tumors" RELATED [OMIM:168000] +synonym: "chemodectomas" RELATED [] +synonym: "glomus jugulare tumors" RELATED [] synonym: "glomus jugulare tumours" RELATED OMO:0003005 [] -synonym: "glomus tumors, familial, 1" RELATED [OMIM:168000] +synonym: "glomus tumors, familial, 1" RELATED [] synonym: "paraganglioma caused by mutation in SDHD" EXACT [MONDO:design_pattern] -synonym: "paraganglioma, carotid body" RELATED [OMIM:168000] +synonym: "paraganglioma, carotid body" RELATED [] synonym: "paragangliomas 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:168000] -synonym: "paragangliomas 1, with or without deafness" EXACT [OMIM:168000, OMIM:genemap2] -synonym: "paragangliomas type 1" EXACT [MONDORULE:1, OMIM:168000] -synonym: "paragangliomas with sensorineural hearing loss" RELATED [OMIM:168000] -synonym: "paragangliomas, familial nonchromaffin, 1" RELATED [OMIM:168000] -synonym: "paragangliomas, familial, 1" RELATED [OMIM:168000] -synonym: "Paragangliomata" RELATED [OMIM:168000] -synonym: "PGL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168000] +synonym: "paragangliomas 1, with or without deafness" EXACT [] +synonym: "paragangliomas type 1" EXACT [MONDORULE:1] +synonym: "paragangliomas with sensorineural hearing loss" RELATED [] +synonym: "paragangliomas, familial nonchromaffin, 1" RELATED [] +synonym: "paragangliomas, familial, 1" RELATED [] +synonym: "Paragangliomata" RELATED [] +synonym: "PGL1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SDHD paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:7324 {source="MONDO:GARD"} xref: MEDGEN:488134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -169483,7 +169506,7 @@ name: paralysis agitans, juvenile, of Hunt subset: gard_rare {source="GARD:10359", source="MONDO:GARD"} subset: rare synonym: "paralysis agitans, juvenile, of Hunt" EXACT [OMIM:168100] -synonym: "Parkinson disease, juvenile, of Hunt" RELATED [OMIM:168100] +synonym: "Parkinson disease, juvenile, of Hunt" RELATED [] xref: GARD:10359 {source="MONDO:GARD"} xref: ICD9:333.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:66768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -169498,7 +169521,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10359/paraly [Term] id: MONDO:0008194 name: Paramolar tubercle of bolk -synonym: "bolk cusp" RELATED [OMIM:168200] +synonym: "bolk cusp" RELATED [] synonym: "Paramolar tubercle of bolk" EXACT [OMIM:168200] xref: MEDGEN:539640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:168200 {source="MONDO:equivalentTo"} @@ -169518,12 +169541,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Eulenburg disease" RELATED [GARD:0007325] synonym: "myotonia congenita intermittens" RELATED [GARD:0007325] -synonym: "paralysis periodica Paramyotonica" RELATED [OMIM:168300] -synonym: "paramyotonia congenita" EXACT [Orphanet:684] -synonym: "paramyotonia congenita of VON Eulenburg" RELATED [OMIM:168300] -synonym: "paramyotonia congenita of Von Eulenburg" EXACT [MONDO:Lexical, OMIM:168300] -synonym: "paramyotonia congenita without cold paralysis" RELATED [OMIM:168300] -synonym: "PMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168300] +synonym: "paralysis periodica Paramyotonica" RELATED [] +synonym: "paramyotonia congenita" EXACT [DOID:0111538, icd11.foundation:1740060527, NCIT:C122790, OMIM:168300, Orphanet:684] +synonym: "paramyotonia congenita of VON Eulenburg" RELATED [] +synonym: "paramyotonia congenita of Von Eulenburg" EXACT [DOID:0111538, MONDO:Lexical, NCIT:C122790, OMIM:168300, Orphanet:684] +synonym: "paramyotonia congenita without cold paralysis" RELATED [] +synonym: "PMC" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Von Eulenburg paramyotonia congenita" RELATED [GARD:0007325] xref: DOID:0111538 {source="MONDO:equivalentTo"} xref: GARD:7325 {source="MONDO:GARD"} @@ -169551,7 +169574,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:2646"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "parastremmatic dwarfism" EXACT [OMIM:168400] +synonym: "parastremmatic dwarfism" EXACT [DOID:0111539, icd11.foundation:431936114, OMIM:168400] synonym: "Parastremmatic dysplasia" RELATED [GARD:0004222] xref: DOID:0111539 {source="MONDO:equivalentTo"} xref: GARD:4222 {source="MONDO:GARD"} @@ -169575,17 +169598,17 @@ def: "Any parietal foramina in which the cause of the disease is a mutation in t subset: gard_rare {source="GARD:18051", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "catlin Marks" RELATED [OMIM:168500] -synonym: "cranium bifidum occultum" RELATED [OMIM:168500] -synonym: "cranium bifidum, hereditary" RELATED [OMIM:168500] -synonym: "foramina parietalia permagna" RELATED [OMIM:168500] +synonym: "catlin Marks" RELATED [] +synonym: "cranium bifidum occultum" RELATED [] +synonym: "cranium bifidum, hereditary" RELATED [] +synonym: "foramina parietalia permagna" RELATED [] synonym: "MSX2 parietal foramina" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "parietal foramina" RELATED [MONDO:Lexical, OMIM:168500] +synonym: "parietal foramina" RELATED [MONDO:Lexical] synonym: "parietal foramina 1" EXACT [OMIM:168500] synonym: "parietal foramina caused by mutation in MSX2" EXACT [MONDO:design_pattern] -synonym: "parietal foramina, symmetric" RELATED [OMIM:168500] -synonym: "PFM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168500] -synonym: "PFM1" RELATED ABBREVIATION [OMIM:168500] +synonym: "parietal foramina, symmetric" RELATED [] +synonym: "PFM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PFM1" RELATED ABBREVIATION [] xref: GARD:18051 {source="MONDO:GARD"} xref: MEDGEN:401480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566827 {source="MONDO:equivalentTo"} @@ -169608,11 +169631,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:251290"} subset: orphanet_rare {source="Orphanet:251290"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cleidocranial dysplasia with parietal foramina" RELATED [OMIM:168550] -synonym: "parietal foramina with clavicular hypoplasia" RELATED [Orphanet:251290] -synonym: "parietal foramina with cleidocranial dysostosis" EXACT [Orphanet:251290] -synonym: "parietal foramina with cleidocranial dysplasia" EXACT [MONDO:Lexical, OMIM:168550] -synonym: "PFMCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168550] +synonym: "cleidocranial dysplasia with parietal foramina" RELATED [] +synonym: "parietal foramina with clavicular hypoplasia" RELATED [] +synonym: "parietal foramina with cleidocranial dysostosis" EXACT [] +synonym: "parietal foramina with cleidocranial dysplasia" EXACT [MONDO:Lexical, OMIM:168550, Orphanet:251290] +synonym: "PFMCCD" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17207 {source="MONDO:GARD"} xref: ICD10CM:Q74.0 {source="Orphanet:251290/attributed", source="Orphanet:251290/ntbt", source="Orphanet:251290"} xref: MEDGEN:401479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -169638,13 +169661,13 @@ synonym: "hereditary late onset Parkinson disease" EXACT [] synonym: "hereditary late-onset Parkinson disease" EXACT [Orphanet:411602] synonym: "late onset Parkinson disease" EXACT [DOID:0060892] synonym: "late onset Parkinson's disease" EXACT [DOID:0060892] -synonym: "late-onset Parkinson disease" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/working-groups/actionability/, Orphanet:411602] +synonym: "late-onset Parkinson disease" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/working-groups/actionability/] synonym: "LOPD" EXACT ABBREVIATION [Orphanet:411602] synonym: "PARK" EXACT [OMIM:168600] -synonym: "Parkinson disease, age of onset, modifier, Multifactorial" EXACT [OMIM:168600, OMIM:genemap2] +synonym: "Parkinson disease, age of onset, modifier, Multifactorial" EXACT [] synonym: "Parkinson disease, late-onset" EXACT [MONDO:Lexical, OMIM:168600] -synonym: "Parkinson disease, late-onset, susceptibility to, Multifactorial" EXACT [OMIM:168600, OMIM:genemap2] -synonym: "Parkinson disease, susceptibility to, Multifactorial" EXACT [OMIM:168600, OMIM:genemap2] +synonym: "Parkinson disease, late-onset, susceptibility to, Multifactorial" EXACT [] +synonym: "Parkinson disease, susceptibility to, Multifactorial" EXACT [] synonym: "PD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:168600] xref: DOID:0060892 {source="MONDO:equivalentTo"} xref: GARD:17684 {source="MONDO:GARD"} @@ -169671,13 +169694,13 @@ comment: Editor note: DO def states any mutation in SNCA, but this would include subset: gard_rare {source="GARD:18474", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "atypical Parkinson disease" RELATED [OMIM:168601] -synonym: "autosomal dominant Parkinson disease 1" EXACT CLINGEN_LABEL [] -synonym: "autosomal dominant Parkinson disease type 1" EXACT [DOID:0060367, MONDORULE:1] -synonym: "autosomal dominant Parkinson's disease 1" RELATED [DOID:0060367] -synonym: "PARK1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:168601] -synonym: "Parkinson disease 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:168601] -synonym: "Parkinson disease 1, autosomal dominant Lewy body" RELATED [OMIM:168601] +synonym: "atypical Parkinson disease" RELATED [] +synonym: "autosomal dominant Parkinson disease 1" EXACT CLINGEN_LABEL [DOID:0060367] +synonym: "autosomal dominant Parkinson disease type 1" EXACT [MONDORULE:1] +synonym: "autosomal dominant Parkinson's disease 1" RELATED [] +synonym: "PARK1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Parkinson disease 1, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "Parkinson disease 1, autosomal dominant Lewy body" RELATED [] xref: DOID:0060367 {source="MONDO:equivalentTo"} xref: GARD:18474 {source="MONDO:GARD"} xref: MEDGEN:357008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -169701,9 +169724,9 @@ subset: ordo_disorder {source="Orphanet:178509"} subset: orphanet_rare {source="Orphanet:178509"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Parkinsonism with alveolar hypoventilation and mental depression" EXACT [OMIM:168605, Orphanet:178509] -synonym: "parkinsonism with alveolar hypoventilation and mental depression" EXACT [DOID:0060486] -synonym: "Perry syndrome" EXACT [OMIM:168605] +synonym: "Parkinsonism with alveolar hypoventilation and mental depression" EXACT [DOID:0060486, OMIM:168605, Orphanet:178509] +synonym: "parkinsonism with alveolar hypoventilation and mental depression" EXACT [DOID:0060486, OMIM:168605, Orphanet:178509] +synonym: "Perry syndrome" EXACT [DOID:0060486, icd11.foundation:1441227658, OMIM:168605, Orphanet:178509] xref: DOID:0060486 {source="MONDO:equivalentTo"} xref: GARD:10453 {source="MONDO:GARD"} xref: icd11.foundation:1441227658 {source="MONDO:equivalentTo"} @@ -169742,7 +169765,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008204 name: obsolete patella aplasia, coxa vara, and tarsal synostosis -synonym: "patella aplasia, coxa vara, and tarsal synostosis" RELATED [OMIM:168850] +synonym: "patella aplasia, coxa vara, and tarsal synostosis" RELATED [] xref: MESH:C536307 {source="MONDO:obsoleteEquivalent"} xref: OMIM:168850 {source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:3112 {source="OMIM:168850"} @@ -169763,8 +169786,8 @@ subset: rare synonym: "absent patella" RELATED [GARD:0008709] synonym: "familial absence of the patella" RELATED [GARD:0008709] synonym: "familial aplasia of the patella (subtype)" RELATED [GARD:0008709] -synonym: "patella aplasia or hypoplasia" EXACT [OMIM:168860, OMIM:genemap2] -synonym: "patella aplasia-hypoplasia" RELATED [MONDO:Lexical, OMIM:168860] +synonym: "patella aplasia or hypoplasia" EXACT [icd11.foundation:88577362] +synonym: "patella aplasia-hypoplasia" RELATED [MONDO:Lexical] synonym: "PTLAH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:168860, Orphanet:86789] xref: GARD:8709 {source="MONDO:GARD"} xref: ICD10CM:Q74.1 {source="Orphanet:86789/inclusion", source="Orphanet:86789", source="Orphanet:86789/ntbt"} @@ -169792,7 +169815,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Ouvrier Billson syndrome" RELATED [GARD:0004176] synonym: "Ouvrier-Billson syndrome" EXACT [Orphanet:1179] -synonym: "paroxysmal tonic upgaze, benign childhood, with ataxia" RELATED [OMIM:168885] +synonym: "paroxysmal tonic upgaze, benign childhood, with ataxia" RELATED [] xref: GARD:4176 {source="MONDO:GARD"} xref: ICD10CM:G96.8 {source="Orphanet:1179/attributed", source="Orphanet:1179/ntbt", source="Orphanet:1179"} xref: MEDGEN:401473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -169813,10 +169836,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chondromalacia of patella" EXACT [DOID:13357, ICD9CM:717.7] -synonym: "chondromalacia patellae" EXACT [DOID:13357] -synonym: "familial chondromalacia patellae" RELATED [Orphanet:1428] +synonym: "chondromalacia patellae" EXACT [DOID:13357, ICD10CM:M22.4, icd11.foundation:1589625540] +synonym: "familial chondromalacia patellae" RELATED [] synonym: "patella chondromalacia" EXACT [MONDO:patterns/location] -synonym: "patella, chondromalacia OF" RELATED [OMIM:168900] +synonym: "patella, chondromalacia OF" RELATED [] synonym: "softening of articular cartilage of patella" EXACT [DOID:13357] xref: DOID:13357 {source="MONDO:equivalentTo"} xref: ICD10CM:M22.4 {source="MONDO:equivalentTo", source="Orphanet:1428", source="Orphanet:1428/attributed", source="Orphanet:1428/ntbt", source="DOID:13357"} @@ -169856,12 +169879,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:46627"} subset: orphanet_rare {source="Orphanet:46627"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CHAR" RELATED ABBREVIATION [OMIM:169100] -synonym: "Char" RELATED [OMIM:169100] -synonym: "CHAR syndrome" RELATED [OMIM:169100] -synonym: "Char syndrome" EXACT [OMIM:169100] -synonym: "patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits" RELATED [OMIM:169100] -synonym: "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" EXACT [Orphanet:46627] +synonym: "CHAR" RELATED ABBREVIATION [] +synonym: "Char" RELATED [] +synonym: "CHAR syndrome" RELATED [] +synonym: "Char syndrome" EXACT [DOID:0060563, OMIM:169100, Orphanet:46627] +synonym: "patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits" RELATED [] +synonym: "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" EXACT [OMIM:169100, Orphanet:46627] xref: DOID:0060563 {source="MONDO:equivalentTo"} xref: GARD:1237 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:46627/attributed", source="Orphanet:46627/ntbt", source="Orphanet:46627"} @@ -169888,17 +169911,17 @@ subset: gard_rare {source="GARD:18237", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "butterfly dystrophy of retinal pigment epithelium" RELATED [OMIM:169150] +synonym: "butterfly dystrophy of retinal pigment epithelium" RELATED [] synonym: "butterfly-shaped pigment dystrophy of the fovea" RELATED [GARD:0009821] synonym: "butterfly-shaped pigmentary maculary dystrophy 1" EXACT [DOID:0060866] -synonym: "macular dystrophy, butterfly-Shaped pigmentary" RELATED [OMIM:169150] +synonym: "macular dystrophy, butterfly-Shaped pigmentary" RELATED [] synonym: "macular dystrophy, butterfly-shaped pigmentary" EXACT [OMIM:169150] -synonym: "macular dystrophy, patterned, 1" RELATED [MONDO:Lexical, OMIM:169150] -synonym: "macular dystrophy, patterned, type 1" EXACT [MONDORULE:1, OMIM:169150] +synonym: "macular dystrophy, patterned, 1" RELATED [MONDO:Lexical] +synonym: "macular dystrophy, patterned, type 1" EXACT [MONDORULE:1] synonym: "MDPT1" EXACT ABBREVIATION [DOID:0060866, MONDO:Lexical, OMIM:169150] -synonym: "patterned dystrophy of retinal pigment epithelium" RELATED [OMIM:169150] +synonym: "patterned dystrophy of retinal pigment epithelium" RELATED [] synonym: "patterned macular dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern] -synonym: "patterned macular dystrophy type 1" EXACT [DOID:0060866, MONDORULE:1] +synonym: "patterned macular dystrophy type 1" EXACT [MONDORULE:1] synonym: "PRPH2 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060866 {source="MONDO:equivalentTo"} xref: GARD:18237 {source="MONDO:GARD"} @@ -169923,7 +169946,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2976"} subset: orphanet_rare {source="Orphanet:2976"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Patterson pseudoleprechaunism syndrome" RELATED [OMIM:169170] +synonym: "Patterson pseudoleprechaunism syndrome" RELATED [] synonym: "Patterson syndrome" EXACT [Orphanet:2976] synonym: "Patterson's leprechaunoid syndrome" RELATED [GARD:0004259] xref: GARD:4259 {source="MONDO:GARD"} @@ -169938,7 +169961,7 @@ is_a: MONDO:0005495 {source="Orphanet:2976"} ! adrenal gland disorder [Term] id: MONDO:0008212 name: Pechet factor deficiency -synonym: "Dynia factor deficiency" RELATED [OMIM:169200] +synonym: "Dynia factor deficiency" RELATED [] synonym: "Pechet factor deficiency" EXACT [OMIM:169200] xref: MEDGEN:358349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566814 {source="MONDO:equivalentTo"} @@ -169950,8 +169973,8 @@ is_a: MONDO:0003847 {source="MESH:C566814/inferred"} ! hereditary disease id: MONDO:0008213 name: pectus excavatum def: "A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax." [MESH:D005660] -synonym: "funnel chest" RELATED [OMIM:169300] -synonym: "pectus excavatum" EXACT [MONDO:ambiguous, OMIM:169300] +synonym: "funnel chest" RELATED [] +synonym: "pectus excavatum" EXACT [icd11.foundation:9248522, MONDO:ambiguous, OMIM:169300] synonym: "pectus excavatum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000767 {source="MONDO:otherHierarchy"} xref: icd11.foundation:9248522 {source="MONDO:equivalentTo"} @@ -169973,9 +169996,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities" RELATED [GARD:0009148] synonym: "Pelger Huet anomaly" RELATED [GARD:0009148] -synonym: "Pelger-Huet anomaly" EXACT [MONDO:Lexical, OMIM:169400] +synonym: "Pelger-Huet anomaly" EXACT [DOID:9631, icd11.foundation:1210390183, MONDO:Lexical, NCIT:C85002, OMIM:169400] synonym: "Pelger-Huet nuclear anomaly" RELATED [GARD:0009148] -synonym: "PHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:169400] +synonym: "PHA" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:9631 {source="MONDO:equivalentTo", source="EFO:1001093"} xref: EFO:1001093 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9148 {source="MONDO:GARD"} @@ -170005,16 +170028,16 @@ subset: orphanet_rare {source="Orphanet:99027"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ADLD" EXACT ABBREVIATION [DOID:0060785, MONDO:Lexical, OMIM:169500, Orphanet:99027] -synonym: "adult-onset autosomal dominant demyelinating leukodystrophy" EXACT CLINGEN_LABEL [Orphanet:99027] -synonym: "adult-onset autosomal dominant leukodystrophy" EXACT [DOID:0060785] +synonym: "adult-onset autosomal dominant demyelinating leukodystrophy" EXACT CLINGEN_LABEL [DOID:0060785, Orphanet:99027] +synonym: "adult-onset autosomal dominant leukodystrophy" EXACT [DOID:0060785, Orphanet:99027] synonym: "autosomal dominant adult-onset demyelinating leukodystrophy" RELATED [GARD:0010587] synonym: "autosomal dominant leukodystrophy with autonomic disease" RELATED [GARD:0010587] synonym: "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease" EXACT [DOID:0060785] -synonym: "leukodystrophy, adult-onset, autosomal dominant" EXACT [OMIM:169500, OMIM:genemap2] -synonym: "leukodystrophy, demyelinating, ADULT-onset, autosomal dominant" RELATED [MONDO:Lexical, OMIM:169500] +synonym: "leukodystrophy, adult-onset, autosomal dominant" EXACT [] +synonym: "leukodystrophy, demyelinating, ADULT-onset, autosomal dominant" RELATED [MONDO:Lexical] synonym: "multiple sclerosis-like disorder" RELATED [GARD:0010587] -synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type" RELATED [OMIM:169500] -synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly" RELATED [OMIM:169500] +synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type" RELATED [] +synonym: "Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly" RELATED [] xref: DECIPHER:59 {source="MONDO:equivalentTo"} xref: DOID:0060785 {source="MONDO:equivalentTo"} xref: GARD:10587 {source="MONDO:GARD"} @@ -170053,7 +170076,7 @@ subset: orphanet_rare {source="Orphanet:2839"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Kosenow syndrome" EXACT [OMIM:169550, Orphanet:2839] -synonym: "pelvis-shoulder dysplasia" EXACT [OMIM:169550] +synonym: "pelvis-shoulder dysplasia" EXACT [OMIM:169550, Orphanet:2839] synonym: "Scapuloiliac dysostosis" EXACT [OMIM:169550, Orphanet:2839] xref: GARD:16611 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:2839/attributed", source="Orphanet:2839/ntbt", source="Orphanet:2839"} @@ -170079,13 +170102,13 @@ subset: ordo_disorder {source="Orphanet:2841"} subset: orphanet_rare {source="Orphanet:2841"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BCPM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:169600] +synonym: "BCPM" RELATED ABBREVIATION [MONDO:Lexical] synonym: "benign chronic familial pemphigus of Hailey-Hailey" EXACT [Orphanet:2841] synonym: "benign chronic pemphigus" EXACT [DOID:0050429, MONDO:Lexical, OMIM:169600] synonym: "benign familial pemphigus" RELATED [GARD:0006559] -synonym: "familial benign chronic pemphigus" RELATED [Orphanet:2841] +synonym: "familial benign chronic pemphigus" RELATED [] synonym: "familial benign pemphigus" RELATED [GARD:0006559] -synonym: "Hailey-Hailey disease" EXACT [OMIM:169600, Orphanet:2841] +synonym: "Hailey-Hailey disease" EXACT [DOID:0050429, icd11.foundation:818400628, NCIT:C82865, OMIM:169600, Orphanet:2841] synonym: "pemphigus, benign familial" EXACT [DOID:0050429, OMIM:169600] xref: DOID:0050429 {source="MONDO:equivalentTo"} xref: GARD:6559 {source="MONDO:GARD"} @@ -170117,7 +170140,7 @@ subset: orphanet_rare {source="Orphanet:704"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial pemphigus vulgaris" EXACT [DOID:0060851] -synonym: "pemphigus vulgaris, familial" RELATED [OMIM:169610] +synonym: "pemphigus vulgaris, familial" RELATED [] xref: DOID:0060851 {source="MONDO:equivalentTo"} xref: EFO:0004719 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7355 {source="MONDO:GARD"} @@ -170138,10 +170161,10 @@ is_a: MONDO:0006594 {source="DOID:0060851", source="EFO:0004719", source="ICD10C id: MONDO:0008220 name: obsolete pepsinogen 3, group 1 comment: This entity is not a disease. -synonym: "pepsinogen 3, group I" RELATED [MONDO:Lexical, OMIM:169710] -synonym: "pepsinogen 3, Group type 1" EXACT [MONDORULE:1, OMIM:169710] -synonym: "pepsinogen I--second locus" RELATED [OMIM:169710] -synonym: "PGA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:169710] +synonym: "pepsinogen 3, group I" RELATED [MONDO:Lexical] +synonym: "pepsinogen 3, Group type 1" EXACT [MONDORULE:1] +synonym: "pepsinogen I--second locus" RELATED [] +synonym: "PGA3" RELATED ABBREVIATION [MONDO:Lexical] xref: OMIM:169710 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2521" xsd:anyURI is_obsolete: true @@ -170156,10 +170179,10 @@ subset: ordo_disorder {source="Orphanet:742"} subset: orphanet_rare {source="Orphanet:742"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyperimidodipeptiduria" EXACT [Orphanet:742] +synonym: "hyperimidodipeptiduria" EXACT [DOID:0111540, icd11.foundation:1416203271, Orphanet:742] synonym: "Imidodipeptidase deficiency" RELATED [GARD:0007473] synonym: "Peptidase deficiency" RELATED [GARD:0007473] -synonym: "prolidase deficiency" EXACT CLINGEN_LABEL [OMIM:170100] +synonym: "prolidase deficiency" EXACT CLINGEN_LABEL [DOID:0111540, icd11.foundation:1416203271, NCIT:C85029, OMIM:170100, Orphanet:742] xref: DOID:0111540 {source="MONDO:equivalentTo"} xref: GARD:7473 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:742", source="Orphanet:742/attributed", source="Orphanet:742/ntbt"} @@ -170193,15 +170216,15 @@ subset: ordo_disorder {source="Orphanet:37553"} subset: orphanet_rare {source="Orphanet:37553"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Andersen cardiodysrhythmic periodic paralysis" EXACT [DOID:0050434, Orphanet:37553] -synonym: "Andersen syndrome" EXACT [DOID:0050434, OMIM:170390, Orphanet:37553] -synonym: "Andersen-Tawil syndrome" EXACT [OMIM:170390, Orphanet:37553] -synonym: "ATS" BROAD ABBREVIATION [DOID:0050434] -synonym: "cardiodysrhythmic potassium-sensitive periodic paralysis" RELATED [Orphanet:37553] -synonym: "long QT syndrome 7" EXACT [DOID:0050434, OMIM:170390] +synonym: "Andersen cardiodysrhythmic periodic paralysis" EXACT [DOID:0050434, OMIM:170390] +synonym: "Andersen syndrome" EXACT [DOID:0050434, NCIT:C84559, OMIM:170390, Orphanet:37553] +synonym: "Andersen-Tawil syndrome" EXACT [DOID:0050434, NCIT:C84559, OMIM:170390, Orphanet:37553] +synonym: "ATS" BROAD ABBREVIATION [] +synonym: "cardiodysrhythmic potassium-sensitive periodic paralysis" RELATED [] +synonym: "long QT syndrome 7" EXACT [DOID:0050434, NCIT:C84559, OMIM:170390] synonym: "long QT syndrome type 7" EXACT [Orphanet:37553] -synonym: "LQT7" EXACT ABBREVIATION [DOID:0050434, Orphanet:37553] -synonym: "periodic paralysis, Potassium-sensitive cardiodysrhythmic type" RELATED [OMIM:170390] +synonym: "LQT7" EXACT ABBREVIATION [DOID:0050434, NCIT:C84559, Orphanet:37553] +synonym: "periodic paralysis, Potassium-sensitive cardiodysrhythmic type" RELATED [] synonym: "Potassium-sensitive cardiodysrhythmic type" EXACT [DOID:0050434] synonym: "Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features" RELATED [GARD:0009453] xref: DOID:0050434 {source="MONDO:equivalentTo"} @@ -170238,15 +170261,15 @@ subset: orphanet_rare {source="Orphanet:681"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial hypokalemic periodic paralysis" EXACT [DOID:14452] -synonym: "familial periodic paralysis" RELATED EXCLUDE [DOID:14452] -synonym: "familial periodic paralysis (& [hypokalaemic])" EXACT [DOID:14452] +synonym: "familial periodic paralysis" RELATED EXCLUDE [] +synonym: "familial periodic paralysis (& [hypokalaemic])" EXACT [] synonym: "HKPP" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] synonym: "HOKPP" EXACT ABBREVIATION [GARD:0006729] synonym: "hypokalemic familial periodic paralysis" EXACT [DOID:14452] -synonym: "hypokalemic periodic paralysis" EXACT [OMIM:170400] +synonym: "hypokalemic periodic paralysis" EXACT [DOID:14452, NCIT:C84775, Orphanet:681] synonym: "HypoPP" EXACT [GARD:0006729] synonym: "periodic hypokalemic paralysis" EXACT [DOID:14452] -synonym: "periodic paralysis I" NARROW [DOID:14452] +synonym: "periodic paralysis I" NARROW [] synonym: "Westphall disease" EXACT [Orphanet:681] xref: DOID:14452 {source="MONDO:equivalentTo"} xref: GARD:6729 {source="MONDO:GARD"} @@ -170278,20 +170301,20 @@ subset: ordo_disorder {source="Orphanet:682"} subset: orphanet_rare {source="Orphanet:682"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adynamia episodica hereditaria" EXACT [Orphanet:682] +synonym: "adynamia episodica hereditaria" EXACT [icd11.foundation:1308452752, Orphanet:682] synonym: "adynamia episodica hereditaria with or without myotonia" EXACT [GARD:0000195, OMIM:170500] -synonym: "familial hyperkalemic periodic paralysis" EXACT [Orphanet:682] -synonym: "familial hyperkalemic periodic paralysis (disorder) [ambiguous]" EXACT [DOID:14451] +synonym: "familial hyperkalemic periodic paralysis" EXACT [DOID:14451, Orphanet:682] +synonym: "familial hyperkalemic periodic paralysis (disorder) [ambiguous]" EXACT [] synonym: "familial hyperPP" EXACT [Orphanet:682] -synonym: "Gamstorp disease" EXACT [Orphanet:682] +synonym: "Gamstorp disease" EXACT [OMIM:170500, Orphanet:682] synonym: "Gamstorp episodic adynamy" EXACT [GARD:0000195, Orphanet:682] -synonym: "hyperkalemic periodic paralysis" EXACT [MONDO:Lexical, OMIM:170500] -synonym: "hyperkalemic periodic paralysis, type 2" EXACT [OMIM:170500, OMIM:genemap2] +synonym: "hyperkalemic periodic paralysis" EXACT [DOID:14451, MONDO:Lexical, NCIT:C123429, OMIM:170500, Orphanet:682] +synonym: "hyperkalemic periodic paralysis, type 2" EXACT [] synonym: "hyperkalemic PP" EXACT [Orphanet:682] synonym: "hyperKPP" EXACT [Orphanet:682] synonym: "hyperPP" EXACT [Orphanet:682] synonym: "HYPP" EXACT ABBREVIATION [GARD:0000195, MONDO:Lexical, OMIM:170500, Orphanet:682] -synonym: "normokalemic periodic paralysis, potassium-sensitive" EXACT [OMIM:170500] +synonym: "normokalemic periodic paralysis, potassium-sensitive" EXACT [] synonym: "primary hyperkalemic periodic paralysis" EXACT [Orphanet:682] synonym: "primary hyperPP" EXACT [Orphanet:682] synonym: "sodium channel muscle disease" RELATED [GARD:0000195] @@ -170324,7 +170347,7 @@ name: normokalemic periodic paralysis comment: Editor note: NCIT says SNC4A, check this subset: gard_rare {source="GARD:4009", source="MONDO:GARD"} subset: rare -synonym: "normokalemic periodic paralysis" EXACT [OMIM:170600] +synonym: "normokalemic periodic paralysis" EXACT [NCIT:C122791, OMIM:170600] synonym: "normokalemic PP" EXACT [GARD:0004009] synonym: "NormoKPP" EXACT [NCIT:C122791] synonym: "periodic paralysis type 3" RELATED [GARD:0004009] @@ -170346,11 +170369,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "juvenile periodontitis" EXACT [DOID:1474] -synonym: "periodontitis 1, juvenile" EXACT [OMIM:170650, OMIM:genemap2] -synonym: "periodontitis, aggressive, 1" RELATED [OMIM:170650] -synonym: "periodontitis, aggressive, type 1" EXACT [MONDORULE:1, OMIM:170650] -synonym: "periodontitis, juvenile" RELATED [OMIM:170650] -synonym: "periodontitis, prepubertal" RELATED [OMIM:170650] +synonym: "periodontitis 1, juvenile" EXACT [] +synonym: "periodontitis, aggressive, 1" RELATED [] +synonym: "periodontitis, aggressive, type 1" EXACT [MONDORULE:1] +synonym: "periodontitis, juvenile" RELATED [] +synonym: "periodontitis, prepubertal" RELATED [] xref: DOID:1474 {source="MONDO:equivalentTo", source="EFO:0006342"} xref: EFO:0006342 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:K05.2 {source="DOID:1474"} @@ -170395,24 +170418,24 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acquired pernicious anaemia" EXACT OMO:0003005 [] -synonym: "acquired pernicious anemia" EXACT [Orphanet:120] +synonym: "acquired pernicious anemia" EXACT [] synonym: "Addison anaemia" EXACT OMO:0003005 [] synonym: "Addison anemia" EXACT [] -synonym: "Addison's anaemia" EXACT OMO:0003005 [] -synonym: "Addison's anemia" EXACT [DOID:13381] +synonym: "Addison's anaemia" EXACT OMO:0003005 [DOID:13381] +synonym: "Addison's anemia" EXACT [] synonym: "Addison-Biermer anaemia" EXACT OMO:0003005 [] -synonym: "Addison-Biermer anemia" EXACT [Orphanet:120] +synonym: "Addison-Biermer anemia" EXACT [] synonym: "anaemia pernicious" EXACT OMO:0003005 [] synonym: "anemia pernicious" EXACT [DOID:13381, MTH:NOCODE] synonym: "Biermer anaemia" EXACT OMO:0003005 [] -synonym: "Biermer anemia" EXACT [Orphanet:120] -synonym: "Biermer disease" EXACT [Orphanet:120] -synonym: "Biermer's anaemia" EXACT OMO:0003005 [] +synonym: "Biermer anemia" EXACT [] +synonym: "Biermer disease" EXACT [] +synonym: "Biermer's anaemia" EXACT OMO:0003005 [DOID:13381] synonym: "Biermer's anemia" EXACT [DOID:13381] synonym: "intrinsic factor deficiency" EXACT [NCIT:C2871] synonym: "juvenile onset pernicious anaemia" EXACT OMO:0003005 [] -synonym: "juvenile onset pernicious anemia" EXACT [Orphanet:120] -synonym: "pernicious anemia" EXACT [OMIM:170900] +synonym: "juvenile onset pernicious anemia" EXACT [] +synonym: "pernicious anemia" EXACT [DOID:13381, NCIT:C2871, OMIM:170900] xref: DOID:13381 {source="EFO:0005576", source="MONDO:equivalentTo"} xref: EFO:0005576 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:12671 {source="MONDO:GARD"} @@ -170447,7 +170470,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8546/accesso id: MONDO:0008230 name: peroxidase, salivary synonym: "peroxidase, salivary" EXACT [MONDO:Lexical, OMIM:170990] -synonym: "SAPX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:170990] +synonym: "SAPX" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:401440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:170990 {source="MONDO:equivalentTo"} xref: UMLS:C1868425 {source="MEDGEN:401440", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -170457,12 +170480,12 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008231 name: Peyronie disease def: "A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both." [MESH:D010411] -synonym: "Induratio penis plastica" EXACT [DOID:8616, Orphanet:2870] +synonym: "Induratio penis plastica" EXACT [DOID:8616] synonym: "penile fibromatosis" EXACT [MONDO:0006361, NCIT:C3316] synonym: "penile induration" EXACT [NCIT:C3316] synonym: "penis fibromatosis" EXACT [MONDO:patterns/location] synonym: "Peyronie disease" EXACT [DOID:8616, MTH:NOCODE, OMIM:171000] -synonym: "Peyronie's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C3316] +synonym: "Peyronie's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:8616, MONDO:LexicalVariant, NCIT:C3316] synonym: "Peyronie's fibromatosis" EXACT [DOID:8616, NCIT:C3316] xref: DOID:8616 {source="MONDO:equivalentTo"} xref: ICD10CM:N48.6 {source="DOID:8616"} @@ -170487,8 +170510,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008232 name: phagocytosis, plasma-related defect 1N -synonym: "phagocytosis, plasma-RELATED defect IN" RELATED [OMIM:171100] -synonym: "phagocytosis, plasma-related defect type 1N" EXACT [MONDORULE:4, OMIM:171100] +synonym: "phagocytosis, plasma-RELATED defect IN" RELATED [] +synonym: "phagocytosis, plasma-related defect type 1N" EXACT [MONDORULE:4] xref: MEDGEN:356965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566808 {source="MONDO:equivalentTo"} xref: OMIM:171100 {source="MONDO:equivalentTo"} @@ -170503,8 +170526,8 @@ subset: gard_rare {source="GARD:15105", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "phaeochromocytoma" EXACT CLINGEN_LABEL [DOID:0050771] -synonym: "pheochromocytoma" EXACT [OMIM:171300] -synonym: "pheochromocytoma, susceptibility to" RELATED [OMIM:171300] +synonym: "pheochromocytoma" EXACT [DOID:0050771, OMIM:171300] +synonym: "pheochromocytoma, susceptibility to" RELATED [] xref: DOID:0050771 {source="MONDO:equivalentTo"} xref: GARD:15105 {source="MONDO:GARD"} xref: MEDGEN:18419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -170539,17 +170562,17 @@ synonym: "multiple endocrine adenomatosis type 2a" EXACT [NCIT:C3226] synonym: "multiple endocrine adenomatosis type II" EXACT [NCIT:C3226] synonym: "multiple endocrine adenomatosis, type II" EXACT [NCIT:C3226] synonym: "multiple endocrine neoplasia II" EXACT [DOID:0050430] -synonym: "multiple endocrine neoplasia IIA" EXACT [OMIM:171400, OMIM:genemap2] -synonym: "multiple endocrine neoplasia type 2A" EXACT CLINGEN_LABEL [NCIT:C3226] +synonym: "multiple endocrine neoplasia IIA" EXACT [] +synonym: "multiple endocrine neoplasia type 2A" EXACT CLINGEN_LABEL [DOID:0050430, icd11.foundation:1689268035, NCIT:C3226, Orphanet:247698] synonym: "multiple endocrine neoplasia type II" EXACT [NCIT:C3226] -synonym: "multiple endocrine neoplasia, type 2A" RELATED [OMIM:171400] +synonym: "multiple endocrine neoplasia, type 2A" RELATED [] synonym: "multiple endocrine neoplasia, type II" EXACT [NCIT:C3226] -synonym: "multiple endocrine neoplasia, type IIA" RELATED [MONDO:Lexical, OMIM:171400] +synonym: "multiple endocrine neoplasia, type IIA" RELATED [MONDO:Lexical] synonym: "pheochromocytoma and amyloid producing medullary thyroid carcinoma" RELATED [GARD:0004881] -synonym: "pheochromocytoma and amyloid-producing medullary thyroid carcinoma" RELATED [OMIM:171400] +synonym: "pheochromocytoma and amyloid-producing medullary thyroid carcinoma" RELATED [] synonym: "ptc syndrome" EXACT [OMIM:171400, Orphanet:247698] synonym: "Sipple syndrome" EXACT [DOID:0050430, OMIM:171400, Orphanet:247698] -synonym: "thyroid carcinoma, familial medullary" RELATED [OMIM:171400] +synonym: "thyroid carcinoma, familial medullary" RELATED [] xref: DOID:0050430 {source="MONDO:equivalentTo"} xref: GARD:4881 {source="MONDO:GARD"} xref: ICD10CM:D44.8 {source="Orphanet:247698/attributed", source="Orphanet:247698/ntbt", source="Orphanet:247698"} @@ -170610,12 +170633,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:2878"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "facioauriculoradial dysplasia" RELATED [OMIM:171480] +synonym: "facioauriculoradial dysplasia" RELATED [] synonym: "phocomelia ectrodactyly deafness sinus arrhythmia" RELATED [GARD:0004323] -synonym: "phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia" RELATED [OMIM:171480] -synonym: "Stoll-LC)vy-Francfort syndrome" EXACT [Orphanet:2878] +synonym: "phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia" RELATED [] +synonym: "Stoll-LC)vy-Francfort syndrome" EXACT [] synonym: "Stoll-levy-Francfort syndrome" RELATED [GARD:0004323] -synonym: "Stoll-Lévy-Francfort syndrome" EXACT [Orphanet:2878] +synonym: "Stoll-Lévy-Francfort syndrome" EXACT [] xref: GARD:4323 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:2878", source="Orphanet:2878/attributed", source="Orphanet:2878/ntbt"} xref: MEDGEN:356961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -170631,8 +170654,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008238 name: phosphatase, acid, of tissues -synonym: "Acp3--Alpha polypeptide" RELATED [OMIM:171660] -synonym: "lysosomal acid phosphatase" RELATED [OMIM:171660] +synonym: "Acp3--Alpha polypeptide" RELATED [] +synonym: "lysosomal acid phosphatase" RELATED [] synonym: "phosphatase, acid, of tissues" EXACT [OMIM:171660] xref: MEDGEN:361808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:171660 {source="MONDO:equivalentTo"} @@ -170642,10 +170665,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008239 name: phosphoglucomutase 4 -synonym: "milk PGM" RELATED [OMIM:172110] -synonym: "Pgm4" RELATED [OMIM:172110] +synonym: "milk PGM" RELATED [] +synonym: "Pgm4" RELATED [] synonym: "phosphoglucomutase 4" EXACT [OMIM:172110] -synonym: "phosphoglucomutase type 4" EXACT [MONDORULE:1, OMIM:172110] +synonym: "phosphoglucomutase type 4" EXACT [MONDORULE:1] xref: MEDGEN:358301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:172110 {source="MONDO:equivalentTo"} xref: UMLS:C1868356 {source="MEDGEN:358301", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -170655,8 +170678,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008240 name: 6-phosphogluconolactonase deficiency synonym: "6-phosphogluconolactonase deficiency" EXACT [OMIM:172150] -synonym: "6Pgl deficiency" RELATED [OMIM:172150] -synonym: "Pgls deficiency" RELATED [OMIM:172150] +synonym: "6Pgl deficiency" RELATED [] +synonym: "Pgls deficiency" RELATED [] xref: MEDGEN:358188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566803 {source="MONDO:equivalentTo"} xref: OMIM:172150 {source="MONDO:equivalentTo"} @@ -170666,9 +170689,9 @@ is_a: MONDO:0003847 {source="MESH:C566803/inferred"} ! hereditary disease [Term] id: MONDO:0008241 name: phosphoglycoprotein 1 -synonym: "PGP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:172290] +synonym: "PGP1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "phosphoglycoprotein 1" EXACT [MONDO:Lexical, OMIM:172290] -synonym: "phosphoglycoprotein type 1" EXACT [MONDORULE:1, OMIM:172290] +synonym: "phosphoglycoprotein type 1" EXACT [MONDORULE:1] xref: MEDGEN:401424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:172290 {source="MONDO:equivalentTo"} xref: UMLS:C1868352 {source="MONDO:equivalentTo", source="MEDGEN:401424", source="MONDO:MEDGEN"} @@ -170678,7 +170701,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008242 name: photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction synonym: "hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" RELATED [GARD:0009267] -synonym: "Herrmann syndrome" RELATED [OMIM:172500] +synonym: "Herrmann syndrome" RELATED [] synonym: "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" EXACT [OMIM:172500] xref: ICD9:583.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:315660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -170696,13 +170719,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dementia in Pick's disease" EXACT [DOID:11870] -synonym: "dementia with lobar atrophy and neuronal cytoplasmic inclusions" RELATED [OMIM:172700] +synonym: "dementia with lobar atrophy and neuronal cytoplasmic inclusions" RELATED [] synonym: "lobar atrophy of brain" EXACT [DOID:11870, OMIM:172700] synonym: "lobar atrophy of the brain" RELATED [GARD:0007392] -synonym: "Pick disease" EXACT [DOID:11870] +synonym: "Pick disease" EXACT [DOID:11870, NCIT:C85008] synonym: "PICK disease of brain" EXACT [DOID:11870, OMIM:172700] synonym: "Pick disease of the brain" RELATED [GARD:0007392] -synonym: "Pick's disease" RELATED [DOID:11870] +synonym: "Pick's disease" RELATED [] xref: DOID:11870 {source="MONDO:equivalentTo", source="EFO:0003096"} xref: EFO:0003096 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G31.01 {source="MONDO:equivalentTo", source="DOID:11870"} @@ -170733,9 +170756,9 @@ subset: orphanet_rare {source="Orphanet:2884"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "partial albinism" EXACT [DOID:3263] -synonym: "PBT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:172800] +synonym: "PBT" RELATED ABBREVIATION [MONDO:Lexical] synonym: "piebald trait" EXACT [DOID:3263, MONDO:Lexical, OMIM:172800] -synonym: "piebaldism" EXACT [OMIM:172800] +synonym: "piebaldism" EXACT [DOID:3263, icd11.foundation:2089421143, NCIT:C85009, OMIM:172800, Orphanet:2884] xref: DOID:3263 {source="MONDO:equivalentTo"} xref: GARD:4344 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="Orphanet:2884/ntbt", source="MONDO:relatedTo", source="Orphanet:2884", source="Orphanet:2884/index"} @@ -170773,7 +170796,7 @@ subset: orphanet_rare {source="Orphanet:2885"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "piebald trait neurologic defects" RELATED [GARD:0005133] -synonym: "piebald trait with neurologic defects" RELATED [OMIM:172850] +synonym: "piebald trait with neurologic defects" RELATED [] synonym: "telfer Sugar Jaeger syndrome" RELATED [GARD:0005133] synonym: "telfer-Sugar-Jaeger syndrome" EXACT [Orphanet:2885] synonym: "White forelock and leukoderma with neurological impairment" RELATED [GARD:0005133] @@ -170795,9 +170818,9 @@ subset: ordo_disorder {source="Orphanet:251295"} subset: orphanet_rare {source="Orphanet:251295"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pigmented paravenous chorioretinal atrophy" RELATED [MONDO:Lexical, OMIM:172870] -synonym: "PPCRA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:172870] -synonym: "PPRCA" EXACT ABBREVIATION [Orphanet:251295] +synonym: "pigmented paravenous chorioretinal atrophy" RELATED [MONDO:Lexical] +synonym: "PPCRA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PPRCA" EXACT ABBREVIATION [DOID:0111541, Orphanet:251295] xref: DOID:0111541 {source="MONDO:equivalentTo"} xref: GARD:17208 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:251295/attributed", source="Orphanet:251295/ntbt", source="Orphanet:251295", source="MONDO:directSiblingOf"} @@ -170822,8 +170845,8 @@ subset: orphanet_rare {source="Orphanet:3104"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Pierre Robin sequence-oligodactyly syndrome" EXACT [Orphanet:3104] -synonym: "Pierre Robin syndrome and oligodactyly" RELATED [OMIM:172880] -synonym: "Robin sequence and oligodactyly" RELATED [OMIM:172880] +synonym: "Pierre Robin syndrome and oligodactyly" RELATED [] +synonym: "Robin sequence and oligodactyly" RELATED [] xref: GARD:4729 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:3104/attributed", source="Orphanet:3104/ntbt", source="Orphanet:3104"} xref: MEDGEN:358176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -170881,16 +170904,16 @@ synonym: "congenital IGHD type II" EXACT [DOID:0060872, Orphanet:231679] synonym: "congenital isolated GH deficiency type II" EXACT [DOID:0060872, Orphanet:231679] synonym: "congenital isolated growth hormone deficiency type II" EXACT [DOID:0060872, Orphanet:231679] synonym: "Growth hormone deficiency, isolated autosomal dominant" RELATED [GARD:0001696] -synonym: "Growth hormone deficiency, isolated, autosomal dominant" RELATED [OMIM:173100] -synonym: "growth hormone deficiency, isolated, type II" EXACT [OMIM:173100, OMIM:genemap2] -synonym: "IGHD 2" RELATED [OMIM:173100] -synonym: "IGHD II" EXACT [DOID:0060872] -synonym: "IGHD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:173100] +synonym: "Growth hormone deficiency, isolated, autosomal dominant" RELATED [] +synonym: "growth hormone deficiency, isolated, type II" EXACT [] +synonym: "IGHD 2" RELATED [] +synonym: "IGHD II" EXACT ABBREVIATION [DOID:0060872] +synonym: "IGHD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "isolated growth hormone deficiency type 2" RELATED [GARD:0001696] -synonym: "isolated Growth hormone deficiency, type 2" RELATED [OMIM:173100] -synonym: "isolated growth hormone deficiency, type II" RELATED [MONDO:Lexical, OMIM:173100] +synonym: "isolated Growth hormone deficiency, type 2" RELATED [] +synonym: "isolated growth hormone deficiency, type II" RELATED [MONDO:Lexical] synonym: "pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant" RELATED [GARD:0001696] -synonym: "pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant" RELATED [OMIM:173100] +synonym: "pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant" RELATED [] xref: DOID:0060872 {source="MONDO:equivalentTo"} xref: GARD:1696 {source="MONDO:GARD"} xref: ICD10CM:E23.0 {source="DOID:0060872", source="Orphanet:231679/attributed", source="Orphanet:231679/ntbt", source="Orphanet:231679"} @@ -170915,9 +170938,9 @@ subset: ordo_disorder {source="Orphanet:2897"} subset: orphanet_rare {source="Orphanet:2897"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Devergie's disease" EXACT [DOID:9212] +synonym: "Devergie's disease" EXACT [] synonym: "hereditary pityriasis rubra pilaris" EXACT [MONDO:patterns/hereditary] -synonym: "pityriasis rubra pilaris" BROAD [MONDO:Lexical, OMIM:173200] +synonym: "pityriasis rubra pilaris" BROAD [MONDO:Lexical] synonym: "pityriasis rubra pilaris--familial type" EXACT [MESH:C531784] synonym: "PRP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:173200] xref: ICD10CM:L44.0 {source="Orphanet:2897", source="Orphanet:2897/specific", source="DOID:9212", source="Orphanet:2897/e"} @@ -170983,7 +171006,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008256 name: platelet membrane fluidity synonym: "platelet membrane fluidity" EXACT [MONDO:Lexical, OMIM:173560] -synonym: "PMF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:173560] +synonym: "PMF" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:401393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:173560 {source="MONDO:equivalentTo"} xref: UMLS:C1868201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:401393"} @@ -171018,9 +171041,9 @@ subset: ordo_disorder {source="Orphanet:2903"} subset: orphanet_rare {source="Orphanet:2903"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pneumothorax, primary spontaneous" RELATED [OMIM:173600] -synonym: "primary spontaneous pneumothorax" RELATED [DOID:0080218, GARD:0004997] -synonym: "Psp" RELATED [OMIM:173600] +synonym: "pneumothorax, primary spontaneous" RELATED [] +synonym: "primary spontaneous pneumothorax" RELATED [GARD:0004997] +synonym: "Psp" RELATED [] synonym: "spontaneous pneumothorax" RELATED [GARD:0004997] xref: DOID:0080218 {source="MONDO:equivalentTo"} xref: GARD:4997 {source="MONDO:GARD"} @@ -171046,16 +171069,16 @@ subset: ordo_disorder {source="Orphanet:2908"} subset: orphanet_rare {source="Orphanet:2908"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bullous acrokeratotic poikiloderma of Kindler and Weary" RELATED [OMIM:173650] +synonym: "bullous acrokeratotic poikiloderma of Kindler and Weary" RELATED [] synonym: "congenital bullous poikiloderma" RELATED [GARD:0004391] -synonym: "hereditary acrokeratotic poikiloderma of Kindler-Weary" RELATED EXCLUDE [DOID:0060472] -synonym: "KINDLER syndrome" RELATED [OMIM:173650] -synonym: "Kindler syndrome" EXACT [OMIM:173650] -synonym: "KNDLRS" RELATED ABBREVIATION [OMIM:173650] -synonym: "KS" EXACT ABBREVIATION [Orphanet:2908] +synonym: "hereditary acrokeratotic poikiloderma of Kindler-Weary" RELATED EXCLUDE [] +synonym: "KINDLER syndrome" RELATED [] +synonym: "Kindler syndrome" EXACT [DOID:0060472, icd11.foundation:726317303, OMIM:173650, Orphanet:2908] +synonym: "KNDLRS" RELATED ABBREVIATION [] +synonym: "KS" EXACT ABBREVIATION [] synonym: "poikiloderma of Kindler" EXACT [DOID:0060472, Orphanet:2908] -synonym: "poikiloderma, congenital, with bullae, Weary type" RELATED [OMIM:173650] -synonym: "poikiloderma, hereditary acrokeratotic" RELATED [OMIM:173650] +synonym: "poikiloderma, congenital, with bullae, Weary type" RELATED [] +synonym: "poikiloderma, hereditary acrokeratotic" RELATED [] xref: DOID:0060472 {source="MONDO:equivalentTo"} xref: GARD:4391 {source="MONDO:GARD"} xref: ICD10CM:Q81.8 {source="Orphanet:2908", source="Orphanet:2908/attributed", source="Orphanet:2908/ntbt"} @@ -171078,7 +171101,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:221039"} subset: orphanet_rare {source="Orphanet:221039"} subset: rare -synonym: "poikiloderma, hereditary sclerosing" RELATED [OMIM:173700] +synonym: "poikiloderma, hereditary sclerosing" RELATED [] xref: GARD:17136 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:221039", source="Orphanet:221039/attributed", source="Orphanet:221039/ntbt"} xref: icd11.foundation:1538273632 {source="MONDO:equivalentTo"} @@ -171100,11 +171123,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2911"} subset: orphanet_rare {source="Orphanet:2911"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pectoralis muscle, absence of" RELATED [OMIM:173800] -synonym: "Poland anomaly" EXACT [Orphanet:2911] -synonym: "Poland sequence" EXACT [OMIM:173800, Orphanet:2911] -synonym: "Poland syndactyly" RELATED [OMIM:173800] -synonym: "Poland syndrome" EXACT [OMIM:173800] +synonym: "pectoralis muscle, absence of" RELATED [] +synonym: "Poland anomaly" EXACT [icd11.foundation:1364451323, NCIT:C85017, OMIM:173800, Orphanet:2911] +synonym: "Poland sequence" EXACT [icd11.foundation:1364451323, OMIM:173800, Orphanet:2911] +synonym: "Poland syndactyly" RELATED [] +synonym: "Poland syndrome" EXACT [DOID:12961, icd11.foundation:1364451323, NCIT:C85017, OMIM:173800, Orphanet:2911] synonym: "Poland's syndactyly" EXACT [DOID:12961] synonym: "Poland's syndrome" RELATED [GARD:0007412] synonym: "unilateral defect of pectoralis muscle and syndactyly of the hand" RELATED [GARD:0007412] @@ -171144,14 +171167,14 @@ synonym: "APKD1" EXACT ABBREVIATION [DOID:0110858] synonym: "autosomal dominant polycystic kidney disease caused by mutation in PKD1" EXACT [MONDO:design_pattern] synonym: "PKD1" EXACT ABBREVIATION [DOID:0110858, MONDO:Lexical, OMIM:173900] synonym: "PKD1 autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "polycystic kidney disease 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:173900] -synonym: "polycystic kidney disease 1 with or without polycystic liver disease" RELATED [OMIM:173900] -synonym: "polycystic kidney disease type 1" EXACT [DOID:0110858, MONDORULE:1, OMIM:173900] -synonym: "polycystic kidney disease, adult" RELATED [OMIM:173900] -synonym: "polycystic kidney disease, adult, type 1" RELATED [OMIM:173900] +synonym: "polycystic kidney disease 1" EXACT CLINGEN_LABEL [DOID:0110858, MONDO:Lexical] +synonym: "polycystic kidney disease 1 with or without polycystic liver disease" RELATED [] +synonym: "polycystic kidney disease type 1" EXACT [MONDORULE:1] +synonym: "polycystic kidney disease, adult" RELATED [] +synonym: "polycystic kidney disease, adult, type 1" RELATED [] synonym: "polycystic kidney disease, adult, type I" EXACT [DOID:0110858] -synonym: "Potter type 3 polycystic kidney disease" RELATED [OMIM:173900] -synonym: "Potter type 3 polycystic kidney disease, formerly" RELATED [OMIM:173900] +synonym: "Potter type 3 polycystic kidney disease" RELATED [] +synonym: "Potter type 3 polycystic kidney disease, formerly" RELATED [] xref: DOID:0110858 {source="MONDO:equivalentTo"} xref: GARD:18597 {source="MONDO:GARD"} xref: MEDGEN:461191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -171178,14 +171201,14 @@ subset: orphanet_rare {source="Orphanet:34149"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ADTKD" EXACT ABBREVIATION [Orphanet:34149] -synonym: "autosomal dominant interstitial kidney disease" EXACT [NCIT:C123171] -synonym: "autosomal dominant medullary cystic kidney disease" EXACT [Orphanet:34149] +synonym: "autosomal dominant interstitial kidney disease" EXACT [] +synonym: "autosomal dominant medullary cystic kidney disease" EXACT [] synonym: "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" EXACT [GARD:0010801] -synonym: "autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:34149] -synonym: "MCKD" RELATED ABBREVIATION [GARD:0010801, OMIM:174000] +synonym: "autosomal dominant tubulointerstitial kidney disease" RELATED [] +synonym: "MCKD" RELATED ABBREVIATION [GARD:0010801] synonym: "medullary cystic disease" RELATED [GARD:0010801] synonym: "medullary cystic kidney disease" RELATED [GARD:0010801] -synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000] +synonym: "polycystic kidneys, medullary type" RELATED [] xref: GARD:10801 {source="MONDO:GARD"} xref: ICD10CM:Q61.5 {source="Orphanet:34149", source="Orphanet:34149/e", source="Orphanet:34149/specific"} xref: icd11.foundation:216863438 {source="Orphanet:34149", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -171210,17 +171233,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:2924"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADPCLD" RELATED ABBREVIATION [Orphanet:2924] -synonym: "autosomal dominant polycystic liver disease" RELATED [Orphanet:2924] +synonym: "ADPCLD" RELATED ABBREVIATION [] +synonym: "autosomal dominant polycystic liver disease" RELATED [] synonym: "isolated autosomal dominant polycystic liver disease" RELATED [GARD:0009457] -synonym: "isolated congenital polycystic liver disease" BROAD [Orphanet:2924] -synonym: "isolated polycystic liver disease" BROAD [Orphanet:2924] +synonym: "isolated congenital polycystic liver disease" BROAD [] +synonym: "isolated polycystic liver disease" BROAD [] synonym: "nonsyndromic congenital polycystic liver disease" EXACT [MONDO:patterns/isolated] synonym: "nonsyndromic polycystic liver disease (disease)" EXACT [MONDO:patterns/isolated] -synonym: "PCLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:174050, Orphanet:2924] +synonym: "PCLD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PCLD1" EXACT ABBREVIATION [OMIM:174050] -synonym: "polycystic liver disease" RELATED [MONDO:Lexical, OMIM:174050] -synonym: "polycystic liver disease 1" EXACT CLINGEN_LABEL [] +synonym: "polycystic liver disease" RELATED [MONDO:Lexical] +synonym: "polycystic liver disease 1" EXACT CLINGEN_LABEL [DOID:0060980] synonym: "polycystic liver disease 1 with or without kidney cysts" EXACT [OMIM:174050] xref: DOID:0060980 {source="MONDO:equivalentTo"} xref: ICD10CM:Q44.6 {source="Orphanet:2924/e", source="Orphanet:2924/specific", source="Orphanet:2924"} @@ -171246,12 +171269,12 @@ subset: gard_rare {source="GARD:4414", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PAPA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:174200] -synonym: "polydactyly, postaxial" RELATED [OMIM:174200] +synonym: "PAPA1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "polydactyly, postaxial" RELATED [] synonym: "polydactyly, postaxial, type A1" EXACT [MONDO:Lexical, OMIM:174200] -synonym: "polydactyly, postaxial, types A1 and B" EXACT [OMIM:174200, OMIM:genemap2] -synonym: "postaxial polydactyly, type A" RELATED [OMIM:174200] -synonym: "postaxial polydactyly, type B" RELATED [OMIM:174200] +synonym: "polydactyly, postaxial, types A1 and B" EXACT [] +synonym: "postaxial polydactyly, type A" RELATED [] +synonym: "postaxial polydactyly, type B" RELATED [] xref: GARD:4414 {source="MONDO:GARD"} xref: MEDGEN:924305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:174200 {source="MONDO:equivalentTo"} @@ -171275,20 +171298,20 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "OFD syndrome 5" RELATED [GARD:0004120] synonym: "OFD5" EXACT ABBREVIATION [DOID:0060375, MONDO:Lexical, OMIM:174300, Orphanet:2919] -synonym: "Ofds 5" RELATED [OMIM:174300] +synonym: "Ofds 5" RELATED [] synonym: "oral facial digital syndrome 5" RELATED [GARD:0004120] synonym: "oral facial digital syndrome type 5" RELATED [GARD:0004120] synonym: "oral-facial-digital syndrome 5" RELATED [GARD:0004120] synonym: "oral-facial-digital syndrome type 5" EXACT [Orphanet:2919] -synonym: "oral-Facial-digital syndrome, type 5" RELATED [OMIM:174300] +synonym: "oral-Facial-digital syndrome, type 5" RELATED [] synonym: "orofaciodigital syndrome 5" RELATED [GARD:0004120] synonym: "orofaciodigital syndrome Thurston type" EXACT [DOID:0060375] -synonym: "orofaciodigital syndrome type 5" EXACT [MONDORULE:1, OMIM:174300] -synonym: "orofaciodigital syndrome type V" EXACT [DOID:0060375, MONDORULE:1] -synonym: "orofaciodigital syndrome V" EXACT [MONDO:Lexical, OMIM:174300] +synonym: "orofaciodigital syndrome type 5" EXACT [MONDORULE:1, Orphanet:2919] +synonym: "orofaciodigital syndrome type V" EXACT [MONDORULE:1] +synonym: "orofaciodigital syndrome V" EXACT [DOID:0060375, MONDO:Lexical] synonym: "orofaciodigital syndrome, Thurston type" EXACT [OMIM:174300, Orphanet:2919] synonym: "polydactyly postaxial with median cleft of upper lip" EXACT [Orphanet:2919] -synonym: "polydactyly, postaxial, with Median cleft of upper lip" RELATED [OMIM:174300] +synonym: "polydactyly, postaxial, with Median cleft of upper lip" RELATED [] synonym: "polydactyly, postaxial, with median cleft of upper lip" EXACT [DOID:0060375] synonym: "Thurston syndrome" EXACT [OMIM:174300, Orphanet:2919] xref: DOID:0060375 {source="MONDO:equivalentTo"} @@ -171320,8 +171343,8 @@ synonym: "Czeizel Brooser syndrome" RELATED [GARD:0004413] synonym: "Czeizel-Brooser syndrome" EXACT [Orphanet:2917] synonym: "PMS" RELATED ABBREVIATION [GARD:0004413] synonym: "polydactyly myopia syndrome" RELATED [GARD:0004413] -synonym: "polydactyly, postaxial, with progressive myopia" RELATED [OMIM:174310] -synonym: "polydactyly-myopia syndrome" EXACT [OMIM:174310] +synonym: "polydactyly, postaxial, with progressive myopia" RELATED [] +synonym: "polydactyly-myopia syndrome" EXACT [OMIM:174310, Orphanet:2917] synonym: "postaxial polydactyly with progressive myopia" RELATED [GARD:0004413] synonym: "postaxial polydactyly-progressive myopia syndrome" RELATED [GARD:0004413] xref: GARD:4413 {source="MONDO:GARD"} @@ -171347,16 +171370,16 @@ subset: ordo_morphological_anomaly {source="Orphanet:93339"} subset: orphanet_rare {source="Orphanet:93339"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fromont anomaly" RELATED [OMIM:174400] +synonym: "Fromont anomaly" RELATED [] synonym: "polydactyly preaxial 1" RELATED [GARD:0004417] -synonym: "polydactyly, preaxial 1" RELATED [OMIM:174400] -synonym: "polydactyly, preaxial I" RELATED [OMIM:174400] -synonym: "polydactyly, preaxial type 1" EXACT [MONDORULE:1, OMIM:174400] -synonym: "PPD1" EXACT ABBREVIATION [Orphanet:93339] +synonym: "polydactyly, preaxial 1" RELATED [] +synonym: "polydactyly, preaxial I" RELATED [] +synonym: "polydactyly, preaxial type 1" EXACT [MONDORULE:1] +synonym: "PPD1" EXACT ABBREVIATION [OMIM:174400, Orphanet:93339] synonym: "preaxial polydactyly 1" RELATED [GARD:0004417] synonym: "preaxial polydactyly type 1" EXACT [Orphanet:93339] -synonym: "thenar hypoplasia" RELATED [OMIM:174400] -synonym: "thumb polydactyly" RELATED [OMIM:174400] +synonym: "thenar hypoplasia" RELATED [] +synonym: "thumb polydactyly" RELATED [] xref: GARD:4417 {source="MONDO:GARD"} xref: ICD10CM:Q69.1 {source="Orphanet:93339/e", source="Orphanet:93339/specific", source="Orphanet:93339"} xref: MEDGEN:237235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -171381,19 +171404,19 @@ subset: ordo_morphological_anomaly {source="Orphanet:93336"} subset: orphanet_rare {source="Orphanet:93336"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "polydactyly of triphalangeal thumb" RELATED [OMIM:174500] -synonym: "polydactyly, preaxial 2" RELATED [OMIM:174500] -synonym: "polydactyly, preaxial II" RELATED [MONDO:Lexical, OMIM:174500] -synonym: "polydactyly, preaxial type 2" EXACT [MONDORULE:1, OMIM:174500] -synonym: "polydactyly, preaxial type II" EXACT [OMIM:174500, OMIM:genemap2] +synonym: "polydactyly of triphalangeal thumb" RELATED [] +synonym: "polydactyly, preaxial 2" RELATED [] +synonym: "polydactyly, preaxial II" RELATED [MONDO:Lexical] +synonym: "polydactyly, preaxial type 2" EXACT [MONDORULE:1] +synonym: "polydactyly, preaxial type II" EXACT [] synonym: "PPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:174500, Orphanet:93336] synonym: "preaxial polydactyly type 2" EXACT [Orphanet:93336] -synonym: "TPT-PS syndrome" RELATED [OMIM:174500] -synonym: "triphalangeal thumb" RELATED [OMIM:174500] -synonym: "triphalangeal thumb with polysyndactyly" RELATED [OMIM:174500] -synonym: "triphalangeal thumb, type i" EXACT [OMIM:174500, OMIM:genemap2] -synonym: "triphalangeal thumb-polydactyly syndrome" RELATED [OMIM:174500] -synonym: "triphalangeal thumb-polysyndactyly syndrome" RELATED [OMIM:174500] +synonym: "TPT-PS syndrome" RELATED [] +synonym: "triphalangeal thumb" RELATED [] +synonym: "triphalangeal thumb with polysyndactyly" RELATED [] +synonym: "triphalangeal thumb, type i" EXACT [] +synonym: "triphalangeal thumb-polydactyly syndrome" RELATED [] +synonym: "triphalangeal thumb-polysyndactyly syndrome" RELATED [] xref: GARD:5289 {source="MONDO:GARD"} xref: ICD10CM:Q69.1 {source="Orphanet:93336", source="Orphanet:93336/attributed", source="Orphanet:93336/ntbt"} xref: icd11.foundation:728781925 {source="MONDO:equivalentTo"} @@ -171419,11 +171442,11 @@ subset: ordo_morphological_anomaly {source="Orphanet:93337"} subset: orphanet_rare {source="Orphanet:93337"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "index finger polydactyly" RELATED [OMIM:174600] -synonym: "polydactyly, preaxial 3" RELATED [OMIM:174600] -synonym: "polydactyly, preaxial III" RELATED [OMIM:174600] -synonym: "polydactyly, preaxial type 3" EXACT [MONDORULE:1, OMIM:174600] -synonym: "PPD3" EXACT ABBREVIATION [Orphanet:93337] +synonym: "index finger polydactyly" RELATED [] +synonym: "polydactyly, preaxial 3" RELATED [] +synonym: "polydactyly, preaxial III" RELATED [] +synonym: "polydactyly, preaxial type 3" EXACT [MONDORULE:1] +synonym: "PPD3" EXACT ABBREVIATION [OMIM:174600, Orphanet:93337] synonym: "preaxial polydactyly type 3" EXACT [Orphanet:93337] xref: GARD:2256 {source="MONDO:GARD"} xref: ICD10CM:Q69.0 {source="Orphanet:93337", source="Orphanet:93337/attributed", source="Orphanet:93337/ntbt"} @@ -171450,15 +171473,15 @@ subset: orphanet_rare {source="Orphanet:93338"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "crossed polydactyly type 1" RELATED [GARD:0001616] -synonym: "crossed polydactyly, type 1" RELATED [OMIM:174700] +synonym: "crossed polydactyly, type 1" RELATED [] synonym: "polydactyly preaxial 4" RELATED [GARD:0009903] -synonym: "polydactyly, preaxial 4" RELATED [OMIM:174700] -synonym: "polydactyly, preaxial IV" RELATED [OMIM:174700] -synonym: "polydactyly, preaxial type 4" EXACT [MONDORULE:1, OMIM:174700] -synonym: "polydactyly, preaxial, type IV" EXACT [OMIM:174700, OMIM:genemap2] +synonym: "polydactyly, preaxial 4" RELATED [] +synonym: "polydactyly, preaxial IV" RELATED [] +synonym: "polydactyly, preaxial type 4" EXACT [MONDORULE:1] +synonym: "polydactyly, preaxial, type IV" EXACT [] synonym: "polysyndactyly uncomplicated" RELATED [GARD:0009903] -synonym: "polysyndactyly, uncomplicated" RELATED [OMIM:174700] -synonym: "PPD4" EXACT ABBREVIATION [Orphanet:93338] +synonym: "polysyndactyly, uncomplicated" RELATED [] +synonym: "PPD4" EXACT ABBREVIATION [OMIM:174700, Orphanet:93338] synonym: "preaxial polydactyly 4" RELATED [GARD:0009903] synonym: "preaxial polydactyly type 4" EXACT [Orphanet:93338] xref: GARD:9903 {source="MONDO:GARD"} @@ -171490,13 +171513,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:330061"} subset: orphanet_rare {source="Orphanet:330061"} subset: rare -synonym: "actinic prurigo" EXACT [OMIM:174770] +synonym: "actinic prurigo" EXACT [icd11.foundation:1528164728, OMIM:174770, Orphanet:330061] synonym: "familial polymorphous light eruption of American Indians" EXACT [Orphanet:330061] synonym: "hereditary polymorphous light eruption of American Indians" EXACT [Orphanet:330061] -synonym: "Hutchinson summer prurigo" EXACT [Orphanet:330061] +synonym: "Hutchinson summer prurigo" EXACT [icd11.foundation:1528164728, Orphanet:330061] synonym: "hydroa aestivale" EXACT [Orphanet:330061] -synonym: "juvenile Spring eruption of ears" RELATED [OMIM:174770] -synonym: "polymorphic Light eruption, hereditary" RELATED [OMIM:174770] +synonym: "juvenile Spring eruption of ears" RELATED [] +synonym: "polymorphic Light eruption, hereditary" RELATED [] xref: GARD:17510 {source="MONDO:GARD"} xref: ICD10CM:L56.4 {source="Orphanet:330061/ntbt", source="Orphanet:330061"} xref: icd11.foundation:1528164728 {source="MONDO:equivalentTo"} @@ -171516,9 +171539,9 @@ subset: gard_rare {source="GARD:4213", source="MONDO:GARD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93276"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fibrous dysplasia of bone" BROAD [NCIT:C34609] -synonym: "PFD" EXACT ABBREVIATION [OMIM:174800] -synonym: "polyostotic fibrous dysplasia of bone" EXACT [NCIT:C34610] +synonym: "fibrous dysplasia of bone" BROAD [] +synonym: "PFD" EXACT ABBREVIATION [] +synonym: "polyostotic fibrous dysplasia of bone" EXACT [icd11.foundation:771587091, NCIT:C34610] xref: GARD:4213 {source="MONDO:GARD"} xref: ICD10CM:Q78.1 {source="Orphanet:93276", source="Orphanet:93276/attributed", source="Orphanet:93276/ntbt", source="MONDO:equivalentTo"} xref: icd11.foundation:771587091 {source="MONDO:equivalentTo"} @@ -171544,15 +171567,15 @@ subset: orphanet_rare {source="Orphanet:85195"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "EOF" RELATED ABBREVIATION [GARD:0009168] -synonym: "expansile osteolysis, familial" RELATED [OMIM:174810] -synonym: "familial expansile osteolysis" EXACT [MONDO:Lexical, OMIM:174810] -synonym: "FEO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:174810] +synonym: "expansile osteolysis, familial" RELATED [] +synonym: "familial expansile osteolysis" EXACT [DOID:0111542, icd11.foundation:1161028858, MONDO:Lexical, OMIM:174810, Orphanet:85195] +synonym: "FEO" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HEPOD" RELATED ABBREVIATION [GARD:0009168] -synonym: "hereditary expansile polyostotic osteolytic dysplasia" EXACT [Orphanet:85195] -synonym: "McCabe disease" EXACT [Orphanet:85195] -synonym: "Mccabe disease" RELATED [OMIM:174810] +synonym: "hereditary expansile polyostotic osteolytic dysplasia" EXACT [DOID:0111542, Orphanet:85195] +synonym: "McCabe disease" EXACT [DOID:0111542, OMIM:174810, Orphanet:85195] +synonym: "Mccabe disease" RELATED [] synonym: "osteolysis, familial expansile" RELATED [GARD:0009168] -synonym: "polyostotic osteolytic dysplasia, hereditary expansile" RELATED [OMIM:174810] +synonym: "polyostotic osteolytic dysplasia, hereditary expansile" RELATED [] xref: DOID:0111542 {source="MONDO:equivalentTo"} xref: GARD:9168 {source="MONDO:GARD"} xref: ICD10CM:M89.5 {source="Orphanet:85195/attributed", source="Orphanet:85195/ntbt", source="Orphanet:85195"} @@ -171576,14 +171599,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:329971"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "generalized juvenile polyposis/juvenile polyposis coli" EXACT CLINGEN_LABEL [] -synonym: "jPS" RELATED [MONDO:Lexical, OMIM:174900] -synonym: "juvenile intestinal polyposis" RELATED [OMIM:174900] -synonym: "juvenile polyposis coli" RELATED [OMIM:174900] -synonym: "juvenile polyposis of stomach" RELATED [OMIM:174900] -synonym: "juvenile polyposis syndrome" RELATED [MONDO:Lexical, OMIM:174900] -synonym: "polyposis, familial, of Entire gastrointestinal tract" RELATED [OMIM:174900] -synonym: "polyposis, juvenile intestinal" RELATED [OMIM:174900] +synonym: "generalized juvenile polyposis/juvenile polyposis coli" EXACT CLINGEN_LABEL [Orphanet:329971] +synonym: "jPS" RELATED [MONDO:Lexical] +synonym: "juvenile intestinal polyposis" RELATED [] +synonym: "juvenile polyposis coli" RELATED [] +synonym: "juvenile polyposis of stomach" RELATED [] +synonym: "juvenile polyposis syndrome" RELATED [MONDO:Lexical] +synonym: "polyposis, familial, of Entire gastrointestinal tract" RELATED [] +synonym: "polyposis, juvenile intestinal" RELATED [] xref: DOID:0050787 {source="MONDO:equivalentTo"} xref: GARD:17508 {source="MONDO:GARD"} xref: ICD10CM:D12.6 {source="Orphanet:329971", source="Orphanet:329971/attributed", source="Orphanet:329971/ntbt"} @@ -171604,7 +171627,7 @@ comment: Editor note: consider splitting polyposis from polyp subset: otar {source="MONDO:OTAR"} synonym: "gastric polyp" EXACT [NCIT:C3954] synonym: "gastric polyposa" EXACT [NCIT:C3954] -synonym: "gastric polyposis" RELATED [NCIT:C3954] +synonym: "gastric polyposis" RELATED [] synonym: "polyps of stomach" EXACT [NCIT:C3954] synonym: "polyps of the stomach" EXACT [NCIT:C3954] xref: MEDGEN:68629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -171625,14 +171648,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "JP/Hht syndrome" RELATED [OMIM:175050] -synonym: "JPHT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175050] -synonym: "jPS/Hht" RELATED [OMIM:175050] -synonym: "juvenile polyposis with hereditary hemorrhagic telangiectasia" RELATED [OMIM:175050] +synonym: "JP/Hht syndrome" RELATED [] +synonym: "JPHT" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "jPS/Hht" RELATED [] +synonym: "juvenile polyposis with hereditary hemorrhagic telangiectasia" RELATED [] synonym: "juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:175050] synonym: "polyposis, generalised juvenile, with pulmonary arteriovenous malformation" RELATED OMO:0003005 [] -synonym: "polyposis, generalized juvenile, with pulmonary arteriovenous malformation" RELATED [OMIM:175050] -synonym: "telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli" RELATED [OMIM:175050] +synonym: "polyposis, generalized juvenile, with pulmonary arteriovenous malformation" RELATED [] +synonym: "telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli" RELATED [] xref: DOID:0111543 {source="MONDO:equivalentTo"} xref: MEDGEN:331400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563412 {source="MONDO:equivalentTo"} @@ -171665,24 +171688,24 @@ subset: ordo_disorder {source="Orphanet:2869"} subset: orphanet_rare {source="Orphanet:2869"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "colonic hamartomatous polyp" EXACT [DOID:3852, NCIT:C5519] +synonym: "colonic hamartomatous polyp" EXACT [DOID:3852] synonym: "gastric Peutz-Jeghers polyp" EXACT [DOID:3852] synonym: "hamartomatous intestinal polyposis" EXACT [Orphanet:2869] synonym: "Jeghers-Peutz syndrome" EXACT [NCIT:C3324] synonym: "lentiginosis, perioral" RELATED [GARD:0007378] synonym: "periorificial lentiginosis syndrome" RELATED [GARD:0007378] synonym: "Peutz Jeghers colon polyp" EXACT [DOID:3852] -synonym: "Peutz Jeghers polyp" RELATED EXCLUDE [DOID:3852] +synonym: "Peutz Jeghers polyp" RELATED EXCLUDE [] synonym: "Peutz Jeghers polyposis" RELATED [GARD:0007378] synonym: "Peutz Jeghers Syndrome" EXACT [NORD:1570] synonym: "Peutz's syndrome" EXACT [NCIT:C3324] -synonym: "Peutz-Jeghers polyp of small intestine" EXACT [DOID:3852, NCIT:C7755] +synonym: "Peutz-Jeghers polyp of small intestine" EXACT [DOID:3852] synonym: "Peutz-Jeghers small bowel hamartoma" EXACT [DOID:3852] -synonym: "Peutz-Jeghers syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C3324, OMIM:175200] +synonym: "Peutz-Jeghers syndrome" EXACT CLINGEN_LABEL [DOID:3852, icd11.foundation:969253189, MONDO:Lexical, NCIT:C3324, OMIM:175200, Orphanet:2869] synonym: "PJS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3324, OMIM:175200, Orphanet:2869] -synonym: "polyposis, hamartomatous intestinal" RELATED [OMIM:175200] -synonym: "polyps and spots syndrome" EXACT [Orphanet:2869] -synonym: "polyps-and-Spots syndrome" RELATED [OMIM:175200] +synonym: "polyposis, hamartomatous intestinal" RELATED [] +synonym: "polyps and spots syndrome" EXACT [] +synonym: "polyps-and-Spots syndrome" RELATED [] xref: DOID:3852 {source="MONDO:equivalentTo"} xref: GARD:7378 {source="MONDO:GARD"} xref: ICD10CM:Q85.8 {source="DOID:3852", source="Orphanet:2869/inclusion", source="Orphanet:2869", source="Orphanet:2869/ntbt"} @@ -171715,7 +171738,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7378/peutz-j id: MONDO:0008281 name: polyposis, intestinal, scattered and discrete synonym: "polyposis, intestinal, scattered and discrete" EXACT [OMIM:175400] -synonym: "polyps, scattered, discrete intestinal" RELATED [OMIM:175400] +synonym: "polyps, scattered, discrete intestinal" RELATED [] xref: MEDGEN:358114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:175400 {source="MONDO:equivalentTo"} xref: UMLS:C1868006 {source="MEDGEN:358114", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -171743,12 +171766,12 @@ subset: orphanet_rare {source="Orphanet:2930"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cronkhite-Canada disease" RELATED [GARD:0004427] -synonym: "Cronkhite-Canada syndrome" EXACT [OMIM:175500] -synonym: "gastric Cronkhite Canada polyposis" EXACT [DOID:6225] +synonym: "Cronkhite-Canada syndrome" EXACT [DOID:6225, icd11.foundation:79007466, OMIM:175500, Orphanet:2930] +synonym: "gastric Cronkhite Canada polyposis" EXACT [DOID:6225, NCIT:C7035] synonym: "gastrointestinal polyposis-ectodermal changes syndrome" EXACT [Orphanet:2930] synonym: "gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome" EXACT [Orphanet:2930] synonym: "polyposis skin pigmentation alopecia fingernail changes" RELATED [GARD:0004427] -synonym: "polyposis, skin pigmentation, alopecia, and fingernail changes" RELATED [OMIM:175500] +synonym: "polyposis, skin pigmentation, alopecia, and fingernail changes" RELATED [] xref: DOID:6225 {source="MONDO:equivalentTo"} xref: GARD:4427 {source="MONDO:GARD"} xref: ICD10CM:D12.6 {source="Orphanet:2930", source="Orphanet:2930/ntbt"} @@ -171772,8 +171795,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4427/cronkhi [Term] id: MONDO:0008284 name: polyposis of gastric fundus without polyposis coli -synonym: "fundic gland polyposis" RELATED [OMIM:175505] -synonym: "polyposis of gastric fundus without polyposis coli" EXACT [OMIM:175505] +synonym: "fundic gland polyposis" RELATED [] +synonym: "polyposis of gastric fundus without polyposis coli" EXACT [] xref: MEDGEN:357403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566775 {source="MONDO:equivalentTo"} xref: OMIM:175505 {source="MONDO:equivalentObsolete"} @@ -171786,8 +171809,8 @@ id: MONDO:0008285 name: polyps, multiple and recurrent inflammatory fibroid, gastrointestinal subset: gard_rare {source="GARD:15106", source="MONDO:GARD"} subset: rare -synonym: "gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial" EXACT [OMIM:175510, OMIM:genemap2] -synonym: "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" EXACT [OMIM:175510] +synonym: "gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial" EXACT [] +synonym: "polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" EXACT [] xref: GARD:15106 {source="MONDO:GARD"} xref: MEDGEN:1677803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566774 {source="MONDO:equivalentTo"} @@ -171808,8 +171831,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2935"} subset: orphanet_rare {source="Orphanet:2935"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "crossed polydactyly" EXACT [Orphanet:2935] -synonym: "polysyndactyly, crossed" RELATED [OMIM:175690] +synonym: "crossed polydactyly" EXACT [] +synonym: "polysyndactyly, crossed" RELATED [] xref: GARD:1617 {source="MONDO:GARD"} xref: ICD10CM:Q70.4 {source="Orphanet:2935", source="Orphanet:2935/attributed", source="Orphanet:2935/ntbt"} xref: icd11.foundation:1884305247 {source="MONDO:equivalentTo"} @@ -171832,12 +171855,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:380"} subset: orphanet_rare {source="Orphanet:380"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GCPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:175700, Orphanet:380] -synonym: "Greig cephalopolysyndactyly syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:175700] +synonym: "GCPS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C35255, OMIM:175700, Orphanet:380] +synonym: "Greig cephalopolysyndactyly syndrome" EXACT CLINGEN_LABEL [DOID:14761, icd11.foundation:606500237, MONDO:Lexical, NCIT:C35255, OMIM:175700, Orphanet:380] synonym: "Greig cephalosyndactyly syndrome" EXACT [NCIT:C35255] synonym: "Greig syndrome" RELATED [GARD:0006550] synonym: "Greig's syndrome" EXACT [NCIT:C35255] -synonym: "polysyndactyly with peculiar skull Shape" RELATED [OMIM:175700] +synonym: "polysyndactyly with peculiar skull Shape" RELATED [] synonym: "polysyndactyly with peculiars skull shape" EXACT [DOID:14761] xref: DOID:14761 {source="MONDO:equivalentTo"} xref: GARD:6550 {source="MONDO:GARD"} @@ -171863,7 +171886,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6550/greig-c id: MONDO:0008288 name: popliteal cyst def: "A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint." [MESH:D011151] -synonym: "baker cyst" RELATED [OMIM:175750] +synonym: "baker cyst" RELATED [] synonym: "popliteal cyst" EXACT [OMIM:175750] xref: ICD9:727.51 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:10853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -171883,31 +171906,31 @@ subset: ordo_disorder {source="Orphanet:36383"} subset: orphanet_rare {source="Orphanet:36383"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADT1P" EXACT ABBREVIATION [OMIM:175780] +synonym: "ADT1P" EXACT ABBREVIATION [] synonym: "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT [DOID:0090125] synonym: "brain small vessel disease with Axenfeld-Riegar anomaly" EXACT [DOID:0090125] -synonym: "brain small vessel disease with axenfeld-rieger anomaly" EXACT [OMIM:175780, OMIM:607595] +synonym: "brain small vessel disease with axenfeld-rieger anomaly" EXACT [OMIM:175780] synonym: "brain small vessel disease with haemorrhage" EXACT OMO:0003005 [] synonym: "brain small vessel disease with hemorrhage" EXACT [DOID:0090125, OMIM:175780] -synonym: "brain small vessel disease with or without ocular anomalies" EXACT [DOID:0090125, MONDO:Lexical, OMIM:607595] -synonym: "BSVD" EXACT ABBREVIATION [DOID:0090125, MONDO:Lexical, OMIM:607595] -synonym: "BSVD1" EXACT ABBREVIATION [OMIM:175780] +synonym: "brain small vessel disease with or without ocular anomalies" EXACT [DOID:0090125, MONDO:Lexical] +synonym: "BSVD" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "BSVD1" EXACT ABBREVIATION [DOID:0090125, OMIM:175780] synonym: "COL4A1 porencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "COL4A1-related brain small vessel disease with haemorrhage" EXACT OMO:0003005 [] synonym: "COL4A1-related brain small vessel disease with hemorrhage" EXACT [DOID:0090125, Orphanet:36383] -synonym: "COL4A1-related familial vascular leukoencephalopathy" EXACT [OMIM:607595] +synonym: "COL4A1-related familial vascular leukoencephalopathy" EXACT [DOID:0090125] synonym: "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" EXACT [DOID:0090125, Orphanet:36383] synonym: "hemiplegia, infantile, with porencephaly" EXACT [OMIM:175780] -synonym: "hemiplegia, infantile, with porencephaly porencephaly, type 1" RELATED [OMIM:175780] -synonym: "infantile hemiparesis" EXACT [DOID:0090125, OMIM:607595] -synonym: "leukoencephalopathy with axenfeld-rieger anomaly" EXACT [DOID:0090125, OMIM:175780, OMIM:607595] -synonym: "POREN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175780] -synonym: "porencephaly 1" EXACT [https://github.com/monarch-initiative/mondo/issues/1089, MONDO:Lexical, OMIM:175780] +synonym: "hemiplegia, infantile, with porencephaly porencephaly, type 1" RELATED [] +synonym: "infantile hemiparesis" EXACT [DOID:0090125] +synonym: "leukoencephalopathy with axenfeld-rieger anomaly" EXACT [OMIM:175780] +synonym: "POREN1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "porencephaly 1" EXACT [https://github.com/monarch-initiative/mondo/issues/1089, MONDO:Lexical] synonym: "porencephaly caused by mutation in COL4A1" EXACT [MONDO:design_pattern] -synonym: "porencephaly type 1" EXACT [MONDORULE:1, OMIM:175780] -synonym: "porencephaly, type 1, autosomal dominant" RELATED [OMIM:175780] -synonym: "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" EXACT [OMIM:175780, OMIM:607595] -synonym: "T1P" EXACT ABBREVIATION [OMIM:175780] +synonym: "porencephaly type 1" EXACT [MONDORULE:1] +synonym: "porencephaly, type 1, autosomal dominant" RELATED [] +synonym: "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" EXACT [OMIM:175780] +synonym: "T1P" EXACT ABBREVIATION [] xref: DOID:0090125 {source="MONDO:equivalentTo"} xref: GARD:15107 {source="MONDO:GARD"} xref: ICD10CM:I67.3 {source="Orphanet:36383/attributed", source="Orphanet:36383/ntbt"} @@ -171932,9 +171955,9 @@ subset: gard_rare {source="GARD:15108", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "POROK1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:175800] -synonym: "porokeratosis 1, MIBELLI type" RELATED [MONDO:Lexical, OMIM:175800] -synonym: "porokeratosis 1, multiple types" RELATED [OMIM:175800] -synonym: "porokeratosis of Mibelli" RELATED [OMIM:175800] +synonym: "porokeratosis 1, MIBELLI type" RELATED [MONDO:Lexical] +synonym: "porokeratosis 1, multiple types" RELATED [] +synonym: "porokeratosis of Mibelli" RELATED [] xref: GARD:15108 {source="MONDO:GARD"} xref: OMIM:175800 {source="MONDO:equivalentTo"} xref: Orphanet:735 {source="OMIM:175800"} @@ -171953,13 +171976,13 @@ subset: orphanet_rare {source="Orphanet:737"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "palmar, plantar and disseminated porokeratosis" EXACT [Orphanet:737] -synonym: "POROK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175850] -synonym: "porokeratosis 2, palmar, plantar, and disseminated" EXACT [OMIM:175850, OMIM:genemap2] -synonym: "porokeratosis 2, palmar, plantar, and disseminated type" RELATED [MONDO:Lexical, OMIM:175850] -synonym: "porokeratosis palmaris Et plantaris disseminata" RELATED [OMIM:175850] -synonym: "porokeratosis plantaris palmaris et disseminata" EXACT [OMIM:175850] -synonym: "porokeratosis, palmar, plantar, and disseminated" RELATED [OMIM:175850] -synonym: "porokeratosis, palmar, plantar, and disseminated, 1" RELATED [OMIM:175850] +synonym: "POROK2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "porokeratosis 2, palmar, plantar, and disseminated" EXACT [] +synonym: "porokeratosis 2, palmar, plantar, and disseminated type" RELATED [MONDO:Lexical] +synonym: "porokeratosis palmaris Et plantaris disseminata" RELATED [] +synonym: "porokeratosis plantaris palmaris et disseminata" EXACT [OMIM:175850, Orphanet:737] +synonym: "porokeratosis, palmar, plantar, and disseminated" RELATED [] +synonym: "porokeratosis, palmar, plantar, and disseminated, 1" RELATED [] xref: GARD:16542 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:737", source="Orphanet:737/attributed", source="Orphanet:737/ntbt"} xref: MEDGEN:56517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -171981,12 +172004,12 @@ subset: orphanet_rare {source="Orphanet:79502"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "keratoderma palmoplantar, punctate type 2" RELATED [GARD:0004439] -synonym: "palmoplantar keratoderma, punctate type II" RELATED [MONDO:Lexical, OMIM:175860] -synonym: "porokeratosis punctata palmaris Et plantaris" RELATED [OMIM:175860] +synonym: "palmoplantar keratoderma, punctate type II" RELATED [MONDO:Lexical] +synonym: "porokeratosis punctata palmaris Et plantaris" RELATED [] synonym: "PPKP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:175860, Orphanet:79502] synonym: "PPPP" EXACT ABBREVIATION [Orphanet:79502] synonym: "punctate palmoplantar hyperkeratosis type 2" EXACT [Orphanet:79502] -synonym: "punctate palmoplantar keratoderma type II" RELATED [DOID:0080213] +synonym: "punctate palmoplantar keratoderma type II" RELATED [] synonym: "type 2 punctate PPK" RELATED [GARD:0004439] xref: DOID:0080213 {source="MONDO:equivalentTo"} xref: GARD:4439 {source="MONDO:GARD"} @@ -172004,13 +172027,13 @@ name: porokeratosis 3, disseminated superficial actinic type subset: gard_rare {source="GARD:9505", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Dsap" RELATED [OMIM:175900] +synonym: "Dsap" RELATED [] synonym: "DSAP1" RELATED ABBREVIATION [GARD:0009505] -synonym: "POROK3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:175900] -synonym: "porokeratosis 3, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:175900] -synonym: "porokeratosis 3, multiple types" RELATED [OMIM:175900] +synonym: "POROK3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "porokeratosis 3, disseminated superficial actinic type" EXACT [MONDO:Lexical] +synonym: "porokeratosis 3, multiple types" RELATED [] synonym: "porokeratosis, disseminated superficial actinic 1" RELATED [GARD:0009505] -synonym: "porokeratosis, disseminated superficial actinic, 1" RELATED [OMIM:175900] +synonym: "porokeratosis, disseminated superficial actinic, 1" RELATED [] xref: GARD:9505 {source="MONDO:GARD"} xref: MEDGEN:401352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536339 {source="MONDO:equivalentTo"} @@ -172033,21 +172056,21 @@ subset: ordo_disorder {source="Orphanet:79276"} subset: orphanet_rare {source="Orphanet:79276"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acute intermittent porphyria" EXACT CLINGEN_LABEL [] -synonym: "AIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176000] +synonym: "acute intermittent porphyria" EXACT CLINGEN_LABEL [DOID:3890, icd11.foundation:1565229118, NCIT:C84536, Orphanet:79276] +synonym: "AIP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "AIP - acute intermittent porphyria" EXACT [DOID:3890] synonym: "HMBS deficiency" RELATED [GARD:0005732] synonym: "hydroxymethylbilane synthase deficiency" RELATED [GARD:0005732] -synonym: "PBGD deficiency" RELATED [OMIM:176000] -synonym: "porphobilinogen deaminase deficiency" RELATED [OMIM:176000] +synonym: "PBGD deficiency" RELATED [] +synonym: "porphobilinogen deaminase deficiency" RELATED [] synonym: "porphyria intermittent acute" EXACT [DOID:3890] -synonym: "porphyria, acute intermittent" RELATED [MONDO:Lexical, OMIM:176000] -synonym: "porphyria, acute intermittent, Nonerythroid variant" RELATED [OMIM:176000] -synonym: "porphyria, Chester type" RELATED [OMIM:176000] -synonym: "porphyria, Swedish type" RELATED [OMIM:176000] +synonym: "porphyria, acute intermittent" RELATED [MONDO:Lexical] +synonym: "porphyria, acute intermittent, Nonerythroid variant" RELATED [] +synonym: "porphyria, Chester type" RELATED [] +synonym: "porphyria, Swedish type" RELATED [] synonym: "pyrroloporphyria" EXACT [DOID:3890] -synonym: "UPS deficiency" RELATED [OMIM:176000] -synonym: "uroporphyrinogen synthase deficiency" RELATED [OMIM:176000] +synonym: "UPS deficiency" RELATED [] +synonym: "uroporphyrinogen synthase deficiency" RELATED [] xref: DOID:3890 {source="MONDO:equivalentTo"} xref: GARD:5732 {source="MONDO:GARD"} xref: ICD10CM:E80.2 {source="Orphanet:79276", source="Orphanet:79276/attributed", source="Orphanet:79276/ntbt"} @@ -172081,11 +172104,11 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:443057"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acquired porphyria cutanea tarda" EXACT [MONDO:patterns/acquired] -synonym: "PCT, 'sporadic' type" RELATED [OMIM:176090] -synonym: "PCT, type 1" RELATED [OMIM:176090] +synonym: "PCT, 'sporadic' type" RELATED [] +synonym: "PCT, type 1" RELATED [] synonym: "porphyria cutanea tarda type I" EXACT [Orphanet:443057] -synonym: "porphyria cutanea tarda, type 1" RELATED [OMIM:176090] -synonym: "porphyria cutanea tarda, type I" RELATED [OMIM:176090] +synonym: "porphyria cutanea tarda, type 1" RELATED [] +synonym: "porphyria cutanea tarda, type I" RELATED [] xref: GARD:17749 {source="MONDO:GARD"} xref: ICD10CM:E80.1 {source="Orphanet:443057", source="Orphanet:443057/attributed", source="Orphanet:443057/ntbt"} xref: icd11.foundation:1813031784 {source="MONDO:equivalentTo"} @@ -172112,17 +172135,17 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:443062"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary porphyria cutanea tarda" EXACT [MONDO:patterns/hereditary] -synonym: "PCT" RELATED ABBREVIATION [OMIM:176100] -synonym: "PCT, 'familial' type" RELATED [OMIM:176100] -synonym: "PCT, type 2" RELATED [OMIM:176100] -synonym: "porphyria cutanea tarda" RELATED [OMIM:176100] +synonym: "PCT" RELATED ABBREVIATION [] +synonym: "PCT, 'familial' type" RELATED [] +synonym: "PCT, type 2" RELATED [] +synonym: "porphyria cutanea tarda" RELATED [] synonym: "porphyria cutanea tarda type II" EXACT [Orphanet:443062] -synonym: "porphyria cutanea tarda, susceptibility to" EXACT [OMIM:176100, OMIM:genemap2] -synonym: "porphyria cutanea tarda, type 2" RELATED [OMIM:176100] -synonym: "porphyria, Hepatocutaneous type" RELATED [OMIM:176100] -synonym: "porphyria, hepatoerythropoietic" RELATED [OMIM:176100] -synonym: "Urod deficiency" RELATED [OMIM:176100] -synonym: "uroporphyrinogen decarboxylase deficiency" RELATED [OMIM:176100] +synonym: "porphyria cutanea tarda, susceptibility to" EXACT [] +synonym: "porphyria cutanea tarda, type 2" RELATED [] +synonym: "porphyria, Hepatocutaneous type" RELATED [] +synonym: "porphyria, hepatoerythropoietic" RELATED [] +synonym: "Urod deficiency" RELATED [] +synonym: "uroporphyrinogen decarboxylase deficiency" RELATED [] xref: EFO:0009043 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:17750 {source="MONDO:GARD"} xref: ICD10CM:E80.1 {source="Orphanet:443062", source="Orphanet:443062/attributed", source="Orphanet:443062/ntbt"} @@ -172152,15 +172175,15 @@ subset: ordo_disorder {source="Orphanet:79473"} subset: orphanet_rare {source="Orphanet:79473"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "porphyria variegata" RELATED [OMIM:176200] -synonym: "porphyria variegata, susceptibility to" RELATED [OMIM:176200, OMIM:genemap2] +synonym: "porphyria variegata" RELATED [] +synonym: "porphyria variegata, susceptibility to" RELATED [] synonym: "porphyria variegate" RELATED [GARD:0007848] -synonym: "porphyria, South African type" RELATED [OMIM:176200] -synonym: "PPOX deficiency" RELATED [OMIM:176200] -synonym: "Protocoproporphyria" EXACT [DOID:4346] -synonym: "protoporphyrinogen oxidase deficiency" EXACT [DOID:4346, OMIM:176200, Orphanet:79473] -synonym: "variegate porphyria" EXACT [OMIM:176200, Orphanet:79473] -synonym: "variegate porphyria, homozygous variant" RELATED [OMIM:176200] +synonym: "porphyria, South African type" RELATED [] +synonym: "PPOX deficiency" RELATED [] +synonym: "Protocoproporphyria" EXACT [DOID:4346, icd11.foundation:1227474618] +synonym: "protoporphyrinogen oxidase deficiency" EXACT [DOID:4346, icd11.foundation:1227474618, OMIM:176200, Orphanet:79473] +synonym: "variegate porphyria" EXACT [DOID:4346, icd11.foundation:1227474618, NCIT:C85219, OMIM:176200, Orphanet:79473] +synonym: "variegate porphyria, homozygous variant" RELATED [] synonym: "VP" RELATED ABBREVIATION [GARD:0007848] xref: DOID:4346 {source="MONDO:equivalentTo"} xref: GARD:7848 {source="MONDO:GARD"} @@ -172194,7 +172217,7 @@ subset: orphanet_rare {source="Orphanet:2730"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "oligodactyly tetramelic postaxial" RELATED [GARD:0004065] -synonym: "postaxial oligodactyly, tetramelic" RELATED [OMIM:176240] +synonym: "postaxial oligodactyly, tetramelic" RELATED [] xref: GARD:4065 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="Orphanet:2730/attributed", source="Orphanet:2730/ntbt", source="Orphanet:2730"} xref: MEDGEN:357380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -172211,7 +172234,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4065/oligoda [Term] id: MONDO:0008299 name: posterior column ataxia -synonym: "Biemond ataxia" RELATED [OMIM:176250] +synonym: "Biemond ataxia" RELATED [] synonym: "posterior column ataxia" EXACT [OMIM:176250] xref: MEDGEN:357379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536342 {source="MONDO:equivalentTo"} @@ -172233,13 +172256,13 @@ subset: rare synonym: "obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet" RELATED [GARD:0005575] synonym: "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet" RELATED DEPRECATED [GARD:0005575] synonym: "Prader Willi syndrome" EXACT [DOID:11983] -synonym: "Prader-Labhart-Willi syndrome" EXACT [OMIM:176270, Orphanet:739] -synonym: "Prader-Willi syndrome" EXACT [MONDO:Lexical, OMIM:176270] -synonym: "Prader-Willi syndrome chromosome region" RELATED [OMIM:176270] +synonym: "Prader-Labhart-Willi syndrome" EXACT [NCIT:C75463, OMIM:176270, Orphanet:739] +synonym: "Prader-Willi syndrome" EXACT [DOID:11983, icd11.foundation:393773440, MONDO:Lexical, NCIT:C75463, OMIM:176270, Orphanet:739] +synonym: "Prader-Willi syndrome chromosome region" RELATED [] synonym: "Prader-Willi-Labhart syndrome" EXACT [NCIT:C75463] -synonym: "Prader-Willi-like syndrome associated with chromosome 6" RELATED [OMIM:176270] -synonym: "PWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176270] -synonym: "Willi-Prader syndrome" EXACT [Orphanet:739] +synonym: "Prader-Willi-like syndrome associated with chromosome 6" RELATED [] +synonym: "PWS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Willi-Prader syndrome" EXACT [icd11.foundation:393773440] xref: DOID:11983 {source="MONDO:equivalentTo"} xref: GARD:5575 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:739/inclusion", source="Orphanet:739", source="Orphanet:739/ntbt", source="DOID:11983"} @@ -172278,10 +172301,10 @@ subset: orphanet_rare {source="Orphanet:2957"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [GARD:0004470] -synonym: "Guttmacher syndrome" EXACT [OMIM:176305] +synonym: "Guttmacher syndrome" EXACT [DOID:0111544, OMIM:176305, Orphanet:2957] synonym: "preaxial deficiency, postaxial polydactyly and hypospadias" RELATED [GARD:0004470] -synonym: "preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [OMIM:176305] -synonym: "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" EXACT [Orphanet:2957] +synonym: "preaxial deficiency, postaxial polydactyly, and hypospadias" RELATED [] +synonym: "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" EXACT [DOID:0111544, Orphanet:2957] xref: DOID:0111544 {source="MONDO:equivalentTo"} xref: GARD:4470 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:2957", source="Orphanet:2957/attributed", source="Orphanet:2957/ntbt"} @@ -172303,10 +172326,10 @@ def: "Any central precocious puberty in which the cause of the disease is a muta subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "central precocious puberty caused by mutation in KISS1R" EXACT [MONDO:design_pattern] -synonym: "CPPB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176400] +synonym: "CPPB1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "KISS1R central precocious puberty" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "precocious puberty, central, 1" EXACT [MONDO:Lexical, OMIM:176400] -synonym: "precocious puberty, central, type 1" EXACT [MONDORULE:1, OMIM:176400] +synonym: "precocious puberty, central, type 1" EXACT [MONDORULE:1] xref: DOID:0112310 {source="MONDO:equivalentTo"} xref: MEDGEN:812209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:176400 {source="MONDO:equivalentTo"} @@ -172327,20 +172350,20 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:3000"} subset: orphanet_rare {source="Orphanet:3000"} subset: rare -synonym: "familial gonadotropin-independent male-limited sexual precocity" EXACT [Orphanet:3000] +synonym: "familial gonadotropin-independent male-limited sexual precocity" EXACT [DOID:0111545, Orphanet:3000] synonym: "familial Testotoxicosis (subtype)" RELATED [GARD:0004475] -synonym: "FMPP" EXACT ABBREVIATION [Orphanet:3000] -synonym: "Leydig cell adenoma, somatic, with male-limited precocious puberty" RELATED [OMIM:176410] -synonym: "leydig cell adenoma, somatic, with precocious puberty" EXACT [OMIM:176410, OMIM:genemap2] +synonym: "FMPP" EXACT ABBREVIATION [DOID:0111545, Orphanet:3000] +synonym: "Leydig cell adenoma, somatic, with male-limited precocious puberty" RELATED [] +synonym: "leydig cell adenoma, somatic, with precocious puberty" EXACT [] synonym: "LHCGR peripheral precocious puberty" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "male-limited precocious puberty" EXACT [Orphanet:3000] +synonym: "male-limited precocious puberty" EXACT [DOID:0111545, Orphanet:3000] synonym: "peripheral precocious puberty caused by mutation in LHCGR" EXACT [] -synonym: "precocious puberty, male" EXACT [OMIM:176410, OMIM:genemap2] +synonym: "precocious puberty, male" EXACT [] synonym: "precocious puberty, male limited" RELATED [GARD:0004475] -synonym: "precocious puberty, male-limited" RELATED [OMIM:176410] +synonym: "precocious puberty, male-limited" RELATED [] synonym: "pubertas praecox" BROAD [GARD:0004475] -synonym: "sexual precocity, familial, gonadotropin-independent" RELATED [OMIM:176410] -synonym: "testotoxicosis" EXACT [GARD:0004475, Orphanet:3000] +synonym: "sexual precocity, familial, gonadotropin-independent" RELATED [] +synonym: "testotoxicosis" EXACT [DOID:0111545, GARD:0004475, Orphanet:3000] synonym: "testotoxicosis, familial" EXACT [OMIM:176410] xref: DOID:0111545 {source="MONDO:equivalentTo"} xref: GARD:4475 {source="MONDO:GARD"} @@ -172362,9 +172385,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008304 name: premature chromatid separation trait -synonym: "PCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176430] -synonym: "premature chromatid separation trait" EXACT [MONDO:Lexical, OMIM:176430, OMIM:genemap2] -synonym: "total premature chromatid separation trait" RELATED [OMIM:176430] +synonym: "PCS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "premature chromatid separation trait" EXACT [MONDO:Lexical, OMIM:176430] +synonym: "total premature chromatid separation trait" RELATED [] xref: MEDGEN:400517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:176430 {source="MONDO:equivalentTo"} xref: UMLS:C1864389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400517"} @@ -172383,13 +172406,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:1552"} subset: orphanet_rare {source="Orphanet:1552"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CURRARINO syndrome" RELATED [OMIM:176450] -synonym: "Currarino syndrome" EXACT [Orphanet:1552] -synonym: "Currarino triad" EXACT CLINGEN_LABEL [OMIM:176450] +synonym: "CURRARINO syndrome" RELATED [] +synonym: "Currarino syndrome" EXACT [DOID:0111546, OMIM:176450, Orphanet:1552] +synonym: "Currarino triad" EXACT CLINGEN_LABEL [DOID:0111546, icd11.foundation:1532133816, OMIM:176450, Orphanet:1552] synonym: "partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation" RELATED [GARD:0001626] -synonym: "sacral agenesis syndrome" RELATED [OMIM:176450] -synonym: "sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation" RELATED [OMIM:176450] -synonym: "Scra1" RELATED [OMIM:176450] +synonym: "sacral agenesis syndrome" RELATED [] +synonym: "sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation" RELATED [] +synonym: "Scra1" RELATED [] xref: DOID:0111546 {source="MONDO:equivalentTo"} xref: GARD:1626 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1552", source="Orphanet:1552/attributed", source="Orphanet:1552/ntbt"} @@ -172421,17 +172444,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:97345"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ABri amyloidosis" EXACT [GARD:0008344] +synonym: "ABri amyloidosis" EXACT [GARD:0008344, icd11.foundation:1037669378, Orphanet:97345] synonym: "Bri amyloidosis" RELATED [GARD:0008344] -synonym: "cerebral amyloid angiopathy, British type" EXACT [DOID:0070029] -synonym: "cerebral amyloid angiopathy, ITM2B-RELATED, 1" RELATED [OMIM:176500] -synonym: "cerebral amyloid angiopathy, ITM2B-related, type 1" EXACT [MONDORULE:1, OMIM:176500] +synonym: "cerebral amyloid angiopathy, British type" EXACT [DOID:0070029, OMIM:176500] +synonym: "cerebral amyloid angiopathy, ITM2B-RELATED, 1" RELATED [] +synonym: "cerebral amyloid angiopathy, ITM2B-related, type 1" EXACT [MONDORULE:1] synonym: "dementia familial British" RELATED [GARD:0008344] -synonym: "dementia, familial British" RELATED [OMIM:176500] +synonym: "dementia, familial British" RELATED [] synonym: "familial British dementia" EXACT [DOID:0070029] synonym: "familial dementia, British type" EXACT [Orphanet:97345] synonym: "FBD" EXACT ABBREVIATION [DOID:0070029, GARD:0008344] -synonym: "ITM2B-related cerebral amyloid angiopathy 1" RELATED [DOID:0070029] +synonym: "ITM2B-related cerebral amyloid angiopathy 1" RELATED [] synonym: "presenile dementia with spastic ataxia" EXACT [DOID:0070029, GARD:0008344, OMIM:176500] xref: DOID:0070029 {source="MONDO:equivalentTo"} xref: GARD:8344 {source="MONDO:GARD"} @@ -172505,11 +172528,11 @@ synonym: "HGPS" EXACT ABBREVIATION [DOID:3911, MONDO:Lexical, OMIM:176670, Orpha synonym: "Hutchinson Gilford progeria syndrome" RELATED [GARD:0007467] synonym: "Hutchinson Gilford syndrome" EXACT [DOID:3911] synonym: "Hutchinson-Gilford disease" EXACT [DOID:3911, NCIT:C34951] -synonym: "Hutchinson-Gilford progeria" EXACT [OMIM:176670, OMIM:genemap2] -synonym: "Hutchinson-Gilford progeria syndrome" EXACT [DOID:3911, MONDO:Lexical, OMIM:176670] +synonym: "Hutchinson-Gilford progeria" EXACT [] +synonym: "Hutchinson-Gilford progeria syndrome" EXACT [DOID:3911, MONDO:Lexical, NCIT:C34951, OMIM:176670, Orphanet:740] synonym: "premature senility syndrome" EXACT [NCIT:C34951] -synonym: "progeria" BROAD [OMIM:176670, Orphanet:740] -synonym: "progeria syndrome, childhood-onset" RELATED [OMIM:176670] +synonym: "progeria" BROAD [] +synonym: "progeria syndrome, childhood-onset" RELATED [] xref: DOID:3911 {source="MONDO:equivalentTo"} xref: GARD:7467 {source="MONDO:GARD"} xref: ICD10CM:E34.8 {source="Orphanet:740/ntbt", source="DOID:3911", source="Orphanet:740/inclusion", source="Orphanet:740"} @@ -172553,9 +172576,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2959"} subset: orphanet_rare {source="Orphanet:2959"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Mulvihill-Smith Syndrome" EXACT [NORD:1473] +synonym: "Mulvihill-Smith Syndrome" EXACT [NORD:1473, OMIM:176690, Orphanet:2959] synonym: "Mulvihill-Smith syndrome" EXACT [OMIM:176690, Orphanet:2959] -synonym: "progeroid short stature with pigmented nevi" RELATED [OMIM:176690] +synonym: "progeroid short stature with pigmented nevi" RELATED [] xref: GARD:4494 {source="MONDO:GARD"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:224702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -172581,12 +172604,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2964"} subset: orphanet_rare {source="Orphanet:2964"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "'Habsburg jaw'" RELATED [OMIM:176700] -synonym: "'Hapsburg jaw'" RELATED [OMIM:176700] +synonym: "'Habsburg jaw'" RELATED [] +synonym: "'Hapsburg jaw'" RELATED [] synonym: "Habsburg jaw" RELATED [GARD:0010319] synonym: "Hapsburg jaw" RELATED [GARD:0010319] synonym: "prognathism mandibular" RELATED [GARD:0010319] -synonym: "prognathism, mandibular" RELATED [OMIM:176700] +synonym: "prognathism, mandibular" RELATED [] xref: GARD:10319 {source="MONDO:GARD"} xref: MEDGEN:98316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D008313 {source="MONDO:equivalentTo"} @@ -172601,10 +172624,10 @@ id: MONDO:0008313 name: pelvic organ prolapse, susceptibility to subset: predisposition synonym: "pelvic organ prolapse, susceptibility to" EXACT [OMIM:176780] -synonym: "pelvic organ prolapse, susceptibility to, 1" RELATED [OMIM:176780] -synonym: "prolapse of vagina and rectum" RELATED [OMIM:176780] -synonym: "rectal prolapse" RELATED [OMIM:176780] -synonym: "vaginal prolapse" RELATED [OMIM:176780] +synonym: "pelvic organ prolapse, susceptibility to, 1" RELATED [] +synonym: "prolapse of vagina and rectum" RELATED [] +synonym: "rectal prolapse" RELATED [] +synonym: "vaginal prolapse" RELATED [] xref: MEDGEN:442887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:176780 {source="MONDO:equivalentTo"} xref: UMLS:C2752090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:442887"} @@ -172630,7 +172653,7 @@ name: prostate cancer def: "A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas." [NCIT:C7378] subset: otar {source="MONDO:OTAR"} synonym: "cancer of prostate gland" EXACT [MONDO:patterns/cancer] -synonym: "hereditary prostate cancer" NARROW [DOID:10283] +synonym: "hereditary prostate cancer" NARROW [] synonym: "malignant neoplasm of prostate" EXACT [NCIT:C7378] synonym: "malignant neoplasm of prostate gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the prostate" EXACT [NCIT:C7378] @@ -172643,12 +172666,12 @@ synonym: "malignant tumor of the prostate" EXACT [DOID:10283, NCIT:C7378] synonym: "malignant tumour of prostate" EXACT OMO:0003005 [] synonym: "malignant tumour of the prostate" EXACT OMO:0003005 [] synonym: "NGP - new growth of prostate" EXACT [DOID:10283] -synonym: "prostate cancer, familial" NARROW [DOID:10283, MESH:C537243] +synonym: "prostate cancer, familial" NARROW [MESH:C537243] synonym: "prostate gland cancer" EXACT [MONDO:patterns/location] -synonym: "prostate neoplasm" BROAD [DOID:10283] +synonym: "prostate neoplasm" BROAD [] synonym: "prostatic cancer" EXACT [DOID:10283] -synonym: "prostatic neoplasm" BROAD [DOID:10283] -synonym: "tumor of the prostate" BROAD [DOID:10283, NCIT:C3343] +synonym: "prostatic neoplasm" BROAD [] +synonym: "tumor of the prostate" BROAD [] synonym: "tumour of the prostate" BROAD OMO:0003005 [] xref: DOID:10283 {source="MONDO:equivalentTo"} xref: ICD10CM:C61 {source="Orphanet:1331/attributed", source="Orphanet:1331/ntbt", source="Orphanet:1331", source="DOID:10283"} @@ -172675,12 +172698,12 @@ name: thrombophilia due to protein C deficiency, autosomal dominant subset: gard_rare {source="GARD:18574", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Proc deficiency, autosomal dominant" RELATED [OMIM:176860] -synonym: "Protein C deficiency, acquired" RELATED [OMIM:176860] -synonym: "Protein C deficiency, autosomal dominant" RELATED [OMIM:176860] -synonym: "THPH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:176860] -synonym: "thrombophilia 3 due to protein C deficiency, autosomal dominant" EXACT [OMIM:176860, OMIM:genemap2] -synonym: "thrombophilia due to PROTEIN C deficiency, autosomal dominant" RELATED [OMIM:176860] +synonym: "Proc deficiency, autosomal dominant" RELATED [] +synonym: "Protein C deficiency, acquired" RELATED [] +synonym: "Protein C deficiency, autosomal dominant" RELATED [] +synonym: "THPH3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thrombophilia 3 due to protein C deficiency, autosomal dominant" EXACT [] +synonym: "thrombophilia due to PROTEIN C deficiency, autosomal dominant" RELATED [] synonym: "thrombophilia due to protein C deficiency, autosomal dominant" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:176860] xref: DOID:0111909 {source="MONDO:equivalentTo"} xref: GARD:18574 {source="MONDO:GARD"} @@ -172713,13 +172736,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:744"} subset: orphanet_rare {source="Orphanet:744"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Elattoproteus syndrome" RELATED [GARD:0000170, MESH:C537716, OMIM:176920] -synonym: "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly" RELATED [GARD:0000170, MESH:C537716, OMIM:176920] +synonym: "Elattoproteus syndrome" RELATED [GARD:0000170, MESH:C537716] +synonym: "gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly" RELATED [GARD:0000170, MESH:C537716] synonym: "hemihypertrophy and macrocephaly" RELATED [MESH:C537716] synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly" RELATED [MESH:C537716] synonym: "partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome" EXACT [Orphanet:744] -synonym: "Proteus syndrome" EXACT [OMIM:176920] -synonym: "proteus syndrome, somatic" EXACT [OMIM:176920, OMIM:genemap2] +synonym: "Proteus syndrome" EXACT [DOID:13482, icd11.foundation:760267333, NCIT:C85032, OMIM:176920, Orphanet:744] +synonym: "proteus syndrome, somatic" EXACT [] synonym: "Wiedemann's syndrome" EXACT [DOID:13482] xref: DOID:13482 {source="MONDO:equivalentTo"} xref: GARD:7475 {source="MONDO:GARD"} @@ -172754,13 +172777,13 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EPP" RELATED ABBREVIATION [GARD:0004527, MONDO:Lexical, OMIM:177000] +synonym: "EPP" RELATED ABBREVIATION [GARD:0004527, MONDO:Lexical] synonym: "EPP1" EXACT ABBREVIATION [OMIM:177000] -synonym: "erythrohepatic protoporphyria" RELATED [GARD:0004527, OMIM:177000] -synonym: "erythropoietic protoporphyria" BROAD [NCIT:C84698] +synonym: "erythrohepatic protoporphyria" RELATED [GARD:0004527] +synonym: "erythropoietic protoporphyria" BROAD [] synonym: "ferrochelatase deficiency" EXACT [GARD:0004527, OMIM:177000] synonym: "heme synthetase deficiency" EXACT [GARD:0004527, OMIM:177000] -synonym: "protoporphyria, erythropoietic" BROAD [MONDO:Lexical, OMIM:177000] +synonym: "protoporphyria, erythropoietic" BROAD [MONDO:Lexical] synonym: "protoporphyria, erythropoietic, 1" EXACT [OMIM:177000] xref: MEDGEN:1643471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:1200815 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -172777,8 +172800,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0008320 name: Protrusio acetabuli -synonym: "PROTRUSIO acetabuli" RELATED [OMIM:177050] -synonym: "Protrusio acetabuli" EXACT [MONDO:ambiguous] +synonym: "PROTRUSIO acetabuli" RELATED [] +synonym: "Protrusio acetabuli" EXACT [MONDO:ambiguous, OMIM:177050] synonym: "Protrusio acetabuli (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0003179 {source="MONDO:otherHierarchy"} xref: MEDGEN:98369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -172810,14 +172833,14 @@ subset: ordo_disorder {source="Orphanet:750"} subset: orphanet_rare {source="Orphanet:750"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PSACH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177170] -synonym: "pseudoachondroplasia" EXACT CLINGEN_LABEL [DOID:0080047, MONDO:Lexical, OMIM:177170] -synonym: "Pseudoachondroplastic dysplasia" EXACT [OMIM:177170, Orphanet:750] -synonym: "pseudoachondroplastic dysplasia" EXACT [DOID:0080047] +synonym: "PSACH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pseudoachondroplasia" EXACT CLINGEN_LABEL [DOID:0080047, icd11.foundation:1192649257, MONDO:Lexical, NCIT:C118635, OMIM:177170, Orphanet:750] +synonym: "Pseudoachondroplastic dysplasia" EXACT [DOID:0080047, OMIM:177170, Orphanet:750] +synonym: "pseudoachondroplastic dysplasia" EXACT [DOID:0080047, OMIM:177170, Orphanet:750] synonym: "Pseudoachondroplastic spondyloepiphyseal dysplasia" EXACT [Orphanet:750] synonym: "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome" RELATED [GARD:0004540] -synonym: "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC" EXACT [DOID:0080047] -synonym: "spondyloepiphyseal dysplasia, Pseudoachondroplastic" RELATED [OMIM:177170] +synonym: "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC" EXACT [DOID:0080047, OMIM:177170] +synonym: "spondyloepiphyseal dysplasia, Pseudoachondroplastic" RELATED [] xref: DOID:0080047 {source="MONDO:equivalentTo"} xref: GARD:4540 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:750/attributed", source="Orphanet:750/ntbt", source="Orphanet:750"} @@ -172851,11 +172874,11 @@ subset: ordo_disorder {source="Orphanet:526"} subset: orphanet_rare {source="Orphanet:526"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Liddle syndrome" EXACT [MONDO:Lexical, OMIM:177200] +synonym: "Liddle syndrome" EXACT [DOID:0050477, MONDO:Lexical, NCIT:C84827, OMIMPS:177200, Orphanet:526] synonym: "Liddle's syndrome" EXACT [DOID:0050477] -synonym: "LIDLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177200] -synonym: "pseudoaldosteronism" EXACT [DOID:0050477, OMIM:177200, Orphanet:526] -synonym: "pseudohyperaldosteronism type 1" NARROW [Orphanet:526] +synonym: "LIDLS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pseudoaldosteronism" EXACT [DOID:0050477, Orphanet:526] +synonym: "pseudohyperaldosteronism type 1" NARROW [] xref: DOID:0050477 {source="MONDO:equivalentTo"} xref: GARD:7381 {source="MONDO:GARD"} xref: ICD10CM:I15.1 {source="Orphanet:526/attributed", source="Orphanet:526/ntbt", source="Orphanet:526"} @@ -172884,8 +172907,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7381/liddle- [Term] id: MONDO:0008324 name: pseudoarthrogryposis -synonym: "ankylosis at elbow and knee" RELATED [OMIM:177300] -synonym: "hereditary congenital rigidity of elbows and knees" RELATED [OMIM:177300] +synonym: "ankylosis at elbow and knee" RELATED [] +synonym: "hereditary congenital rigidity of elbows and knees" RELATED [] synonym: "pseudoarthrogryposis" EXACT [OMIM:177300] xref: MEDGEN:356790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566753 {source="MONDO:equivalentTo"} @@ -172908,7 +172931,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008326 name: obsolete pseudocholinesterase, increase in plasma level of comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "pseudocholinesterase, increase in plasma level OF" RELATED [OMIM:177600] +synonym: "pseudocholinesterase, increase in plasma level OF" RELATED [] xref: OMIM:177600 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -172922,9 +172945,9 @@ subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare synonym: "pseudoexfoliation glaucoma" EXACT [DOID:13641, ICD9CM:365.52] -synonym: "pseudoexfoliation syndrome" EXACT [DOID:13641, Orphanet:529819] +synonym: "pseudoexfoliation syndrome" EXACT [DOID:13641] synonym: "XFG" EXACT ABBREVIATION [NCIT:C129025] -synonym: "XFS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:529819] +synonym: "XFS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C129025] xref: DOID:13641 {source="EFO:0004235", source="MONDO:equivalentTo"} xref: EFO:0004235 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:365.52 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:13641"} @@ -172949,8 +172972,8 @@ name: glaucoma 1, open angle, P subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "glaucoma 1, open angle, P" EXACT [MONDO:Lexical, OMIM:177700] -synonym: "glaucoma 1, open angle, type P" EXACT [MONDORULE:1, OMIM:177700] -synonym: "GLC1P" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177700] +synonym: "glaucoma 1, open angle, type P" EXACT [MONDORULE:1] +synonym: "GLC1P" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:854866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566748 {source="MONDO:equivalentTo"} xref: OMIM:177700 {source="MONDO:equivalentTo"} @@ -172969,13 +172992,13 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:171871"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant PHA 1" EXACT [DOID:0060855] -synonym: "autosomal dominant pseudohypoaldosteronism type 1" EXACT CLINGEN_LABEL [Orphanet:171871] -synonym: "PHA I, autosomal dominant" RELATED [OMIM:177735] +synonym: "autosomal dominant pseudohypoaldosteronism type 1" EXACT CLINGEN_LABEL [DOID:0060855, Orphanet:171871] +synonym: "PHA I, autosomal dominant" RELATED [] synonym: "PHA1A" EXACT ABBREVIATION [DOID:0060855, MONDO:Lexical, OMIM:177735] synonym: "pseudohypoaldosteronism type 1 autosomal dominant" RELATED [GARD:0009145] synonym: "pseudohypoaldosteronism type 1, dominant" RELATED [GARD:0009145] -synonym: "pseudohypoaldosteronism type i, autosomal dominant" EXACT [OMIM:177735, OMIM:genemap2] -synonym: "pseudohypoaldosteronism, type I, autosomal dominant" RELATED [MONDO:Lexical, OMIM:177735] +synonym: "pseudohypoaldosteronism type i, autosomal dominant" EXACT [] +synonym: "pseudohypoaldosteronism, type I, autosomal dominant" RELATED [MONDO:Lexical] synonym: "renal PHA1" RELATED [GARD:0009145] synonym: "renal pseudohypoaldosteronism type 1" RELATED [GARD:0009145] xref: DOID:0060855 {source="MONDO:equivalentTo"} @@ -172997,7 +173020,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9145/autosom [Term] id: MONDO:0008330 name: pseudomonilethrix -synonym: "pseudomonilethrix" EXACT [OMIM:177750] +synonym: "pseudomonilethrix" EXACT [icd11.foundation:207127044, OMIM:177750] xref: icd11.foundation:207127044 {source="MONDO:equivalentTo"} xref: MEDGEN:96595 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562988 {source="MONDO:equivalentTo"} @@ -173014,7 +173037,7 @@ comment: This is a phenotypic feature and belongs in HPO. subset: ordo_group_of_disorders {source="Orphanet:519339"} synonym: "crowded optic disk" RELATED [] synonym: "obsolete pseudopapilledema (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "pseudopapilledema" EXACT [MONDO:ambiguous, OMIM:177800] +synonym: "pseudopapilledema" EXACT [MONDO:ambiguous] xref: DOID:1392 {source="MONDO:obsoleteEquivalent"} xref: ICD9:377.24 {source="MONDO:obsoleteEquivalent", source="MONDO:i2s", source="DOID:1392"} xref: MESH:C562401 {source="MONDO:obsoleteEquivalent", source="DOID:1392"} @@ -173039,18 +173062,18 @@ subset: orphanet_rare {source="Orphanet:52530"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDPLT3" EXACT ABBREVIATION [DOID:0111056] -synonym: "bleeding disorder, Platelet-type, 3" RELATED [OMIM:177820] +synonym: "bleeding disorder, Platelet-type, 3" RELATED [] synonym: "platelet type-von Willebrand disease" EXACT [DOID:0111056, https://orcid.org/0000-0002-7437-8060, Orphanet:52530] -synonym: "platelet-type bleeding disorder 3" RELATED [DOID:0111056] +synonym: "platelet-type bleeding disorder 3" RELATED [] synonym: "platelet-type von Willebrand disease" EXACT [NCIT:C131681] -synonym: "pseudo-VON WILLEBRAND disease" RELATED [OMIM:177820] -synonym: "pseudo-von Willebrand disease" EXACT CLINGEN_LABEL [DOID:0111056, MONDO:Lexical, OMIM:177820] +synonym: "pseudo-VON WILLEBRAND disease" RELATED [] +synonym: "pseudo-von Willebrand disease" EXACT CLINGEN_LABEL [DOID:0111056, MONDO:Lexical, NCIT:C131681, OMIM:177820, Orphanet:52530] synonym: "pseudo-von Willebrand disease type 2B" EXACT [Orphanet:52530] -synonym: "PT-VWD" EXACT [DOID:0111056, Orphanet:52530] +synonym: "PT-VWD" EXACT ABBREVIATION [DOID:0111056, Orphanet:52530] synonym: "von Willebrand disease platelet-type" EXACT [DOID:0111056] synonym: "Von Willebrand disease, platelet type" RELATED [GARD:0008312] -synonym: "Von Willebrand disease, Platelet-type" RELATED [OMIM:177820] -synonym: "VWDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177820] +synonym: "Von Willebrand disease, Platelet-type" RELATED [] +synonym: "VWDP" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111056 {source="MONDO:equivalentTo"} xref: GARD:8312 {source="MONDO:GARD"} xref: ICD10CM:D69.8 {source="Orphanet:52530", source="Orphanet:52530/attributed", source="Orphanet:52530/ntbt", source="DOID:0111056"} @@ -173076,7 +173099,7 @@ def: "An autosomal dominant form of PXE." [https://rarediseases.info.nih.gov/dis subset: gard_rare {source="GARD:10104", source="MONDO:GARD"} subset: rare synonym: "pseudoxanthoma elasticum, forme fruste" EXACT [OMIM:177850] -synonym: "pseudoxanthoma elasticum, heterozygous" RELATED [OMIM:177850] +synonym: "pseudoxanthoma elasticum, heterozygous" RELATED [] xref: GARD:10104 {source="MONDO:GARD"} xref: MEDGEN:357280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:177850 {source="MONDO:equivalentTo"} @@ -173095,9 +173118,9 @@ subset: predisposition synonym: "HLA-C psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "psoriasis 1, susceptibility to" EXACT [MONDO:Lexical, OMIM:177900] synonym: "psoriasis caused by mutation in HLA-C" EXACT [MONDO:design_pattern] -synonym: "psoriasis susceptibility 1" EXACT [OMIM:177900, OMIM:genemap2] -synonym: "PSORS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:177900] -synonym: "susceptibility to psoriasis 1" RELATED [OMIM:177900] +synonym: "psoriasis susceptibility 1" EXACT [] +synonym: "PSORS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to psoriasis 1" RELATED [] xref: DOID:0111286 {source="MONDO:equivalentTo"} xref: MEDGEN:357279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:177900 {source="MONDO:equivalentTo"} @@ -173120,14 +173143,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:2994"} subset: orphanet_rare {source="Orphanet:2994"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Haspeslagh syndrome" RELATED [OMIM:177980] +synonym: "Haspeslagh syndrome" RELATED [] synonym: "Haspeslagh-Fryns-Muelenaere syndrome" EXACT [Orphanet:2994] synonym: "pterygia intellectual disability facial dysmorphism" RELATED [GARD:0002605] synonym: "pterygia mental retardation facial dysmorphism" RELATED DEPRECATED [GARD:0002605] synonym: "pterygia, intellectual disability and distinctive craniofacial features" RELATED [GARD:0002605] -synonym: "pterygia, intellectual disability, and distinctive craniofacial features" RELATED [OMIM:177980] +synonym: "pterygia, intellectual disability, and distinctive craniofacial features" RELATED [] synonym: "pterygia, mental retardation and distinctive craniofacial features" RELATED DEPRECATED [GARD:0002605] -synonym: "pterygia, mental retardation, and distinctive craniofacial features" RELATED DEPRECATED [OMIM:177980] +synonym: "pterygia, mental retardation, and distinctive craniofacial features" RELATED DEPRECATED [] xref: GARD:2605 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2994/attributed", source="Orphanet:2994/ntbt", source="Orphanet:2994"} xref: MEDGEN:357988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -173160,7 +173183,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:2989"} subset: orphanet_rare {source="Orphanet:2989"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pterygium of conjunctiva and cornea" RELATED [OMIM:178000] +synonym: "pterygium of conjunctiva and cornea" RELATED [] synonym: "pterygium of the conjunctiva and cornea" RELATED [GARD:0004569] xref: GARD:4569 {source="MONDO:GARD"} xref: ICD10CM:H11.0 {source="Orphanet:2989/attributed", source="Orphanet:2989/ntbt", source="Orphanet:2989", source="MONDO:directSiblingOf"} @@ -173183,12 +173206,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:65743"} subset: orphanet_rare {source="Orphanet:65743"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis, distal, type 8" RELATED [MONDO:Lexical, OMIM:178110] -synonym: "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A" EXACT [OMIM:178110, OMIM:genemap2] -synonym: "DA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178110] +synonym: "arthrogryposis, distal, type 8" RELATED [MONDO:Lexical] +synonym: "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A" EXACT [] +synonym: "DA8" RELATED ABBREVIATION [MONDO:Lexical] synonym: "distal arthrogryposis type 8" EXACT [Orphanet:65743] synonym: "multiple pterygium syndrome, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:178110] -synonym: "pterygium syndrome, multiple, autosomal dominant" RELATED [OMIM:178110] +synonym: "pterygium syndrome, multiple, autosomal dominant" RELATED [] xref: DOID:0081321 {source="MONDO:equivalentTo"} xref: GARD:13058 {source="MONDO:GARD"} xref: ICD10CM:Q79.8 {source="Orphanet:65743", source="Orphanet:65743/attributed", source="Orphanet:65743/ntbt"} @@ -173220,9 +173243,9 @@ subset: orphanet_rare {source="Orphanet:2987"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "antecubital pterygium" RELATED [GARD:0004570] -synonym: "antecubital pterygium syndrome" EXACT CLINGEN_LABEL [] +synonym: "antecubital pterygium syndrome" EXACT CLINGEN_LABEL [Orphanet:2987] synonym: "pterygium antecubital" RELATED [GARD:0004570] -synonym: "pterygium, antecubital" RELATED [OMIM:178200] +synonym: "pterygium, antecubital" RELATED [] xref: GARD:4570 {source="MONDO:GARD"} xref: MEDGEN:401231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566738 {source="MONDO:equivalentTo"} @@ -173244,12 +173267,12 @@ subset: orphanet_rare {source="Orphanet:91411"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital eyelid ptosis" EXACT [NCIT:C27049] -synonym: "congenital ptosis" EXACT [MONDO:ambiguous, Orphanet:91411] +synonym: "congenital ptosis" EXACT [DOID:0060261, MONDO:ambiguous, Orphanet:91411] synonym: "congenital ptosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "PTOS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178300] -synonym: "ptosis, congenital" EXACT [OMIM:178300, OMIM:genemap2] -synonym: "ptosis, hereditary congenital 1" RELATED [MONDO:Lexical, OMIM:178300] -synonym: "ptosis, hereditary congenital, 1" EXACT [OMIM:178300, OMIM:genemap2] +synonym: "PTOS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ptosis, congenital" EXACT [] +synonym: "ptosis, hereditary congenital 1" RELATED [MONDO:Lexical] +synonym: "ptosis, hereditary congenital, 1" EXACT [] xref: DOID:0060261 {source="MONDO:equivalentTo"} xref: GARD:16798 {source="MONDO:GARD"} xref: HP:0007970 {source="MONDO:otherHierarchy", source="DOID:0060261"} @@ -173285,7 +173308,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "McPherson-Hall syndrome" EXACT [Orphanet:2999] synonym: "ptosis strabismus ectopic pupils" RELATED [GARD:0004577] -synonym: "ptosis, strabismus, and ectopic pupils" RELATED [OMIM:178330] +synonym: "ptosis, strabismus, and ectopic pupils" RELATED [] xref: GARD:4577 {source="MONDO:GARD"} xref: MEDGEN:356778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566736 {source="MONDO:equivalentTo"} @@ -173316,7 +173339,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:1207"} subset: orphanet_rare {source="Orphanet:1207"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pulmonary atresia with ventricular septal defect" EXACT [OMIM:178370] +synonym: "pulmonary atresia with ventricular septal defect" EXACT [NCIT:C99033, OMIM:178370, Orphanet:1207] synonym: "pulmonary valve atresia with ventricular septal defect" EXACT [NCIT:C99033] xref: GARD:4588 {source="MONDO:GARD"} xref: ICD10CM:Q25.5 {source="Orphanet:1207/ntbt", source="Orphanet:1207"} @@ -173338,7 +173361,7 @@ id: MONDO:0008344 name: pulmonary edema of mountaineers, susceptibility to subset: predisposition synonym: "HAPH" RELATED ABBREVIATION [GARD:0008348] -synonym: "high altitude pulmonary hypertension" RELATED [OMIM:178400] +synonym: "high altitude pulmonary hypertension" RELATED [] synonym: "pulmonary edema of mountaineers" RELATED [GARD:0008348] synonym: "pulmonary edema of mountaineers, susceptibility to" EXACT [OMIM:178400] synonym: "pulmonary oedema of mountaineers" RELATED OMO:0003005 [] @@ -173375,11 +173398,11 @@ subset: rare synonym: "alveolar hypoventilation syndrome" RELATED [GARD:0006763] synonym: "brown induration" EXACT [DOID:12118] synonym: "brown lung" EXACT [DOID:12118] -synonym: "Idiopathic Pulmonary Hemosiderosis" EXACT [NORD:91174] -synonym: "idiopathic pulmonary hemosiderosis" EXACT [DOID:12118, ICD9CM:516.1] -synonym: "pulmonary hemosiderosis" EXACT [OMIM:178550] +synonym: "Idiopathic Pulmonary Hemosiderosis" EXACT [DOID:12118, NORD:91174, Orphanet:99931] +synonym: "idiopathic pulmonary hemosiderosis" EXACT [DOID:12118, ICD9CM:516.1, Orphanet:99931] +synonym: "pulmonary hemosiderosis" EXACT [DOID:12118, OMIM:178550] synonym: "pulmonary siderosis" EXACT [DOID:10328, MONDO:0001002] -synonym: "siderosis" RELATED [DOID:10328] +synonym: "siderosis" RELATED [] xref: DOID:10328 {source="MONDO:equivalentTo"} xref: DOID:12118 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:6763 {source="MONDO:GARD"} @@ -173416,9 +173439,9 @@ subset: ordo_disorder {source="Orphanet:422"} subset: otar {source="MONDO:OTAR"} synonym: "idiopathic and/or familial pulmonary arterial hypertension" EXACT CLINGEN_LABEL [] synonym: "IFPAH" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] -synonym: "PPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178600] -synonym: "pulmonary hypertension, primary, 1" RELATED [MONDO:Lexical, OMIM:178600] -synonym: "pulmonary hypertension, primary, type 1" EXACT [MONDORULE:1, OMIM:178600] +synonym: "PPH1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pulmonary hypertension, primary, 1" RELATED [MONDO:Lexical] +synonym: "pulmonary hypertension, primary, type 1" EXACT [MONDORULE:1] xref: ICD10CM:I27.0 {source="Orphanet:422", source="Orphanet:422/e", source="Orphanet:422/specific"} xref: Orphanet:422 {source="MONDO:obsoleteEquivalent", source="OMIM:178600"} relationship: excluded_subClassOf MONDO:0015510 {source="Orphanet:422", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare genetic respiratory disease @@ -173437,7 +173460,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:60026"} subset: orphanet_rare {source="Orphanet:60026"} subset: rare -synonym: "pulmonary nodular lymphoid hyperplasia, familial" RELATED [OMIM:178610] +synonym: "pulmonary nodular lymphoid hyperplasia, familial" RELATED [] synonym: "pulmonary pseudolymphoma" EXACT [Orphanet:60026] xref: GARD:16663 {source="MONDO:GARD"} xref: MEDGEN:401226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -173450,7 +173473,7 @@ is_a: MONDO:0005087 {source="Orphanet:60026"} ! respiratory system disorder [Term] id: MONDO:0008349 name: pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities -synonym: "Ciuffo syndrome" RELATED [OMIM:178650] +synonym: "Ciuffo syndrome" RELATED [] synonym: "pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities" EXACT [OMIM:178650] xref: MEDGEN:357274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566733 {source="MONDO:equivalentTo"} @@ -173473,7 +173496,7 @@ name: obsolete pupil, egg-shaped comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none synonym: "egg shaped pupils" RELATED [GARD:0008291] synonym: "ovoid pupils" RELATED [GARD:0008291] -synonym: "pupil, egg-shaped" EXACT [OMIM:178800] +synonym: "pupil, egg-shaped" EXACT [] xref: MESH:C566731 {source="MONDO:obsoleteEquivalent"} xref: OMIM:178800 {source="GARD:0008291", source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -173499,11 +173522,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:64745"} subset: orphanet_rare {source="Orphanet:64745"} subset: rare -synonym: "polymorphic eruption of pregnancy" EXACT [OMIM:178995, Orphanet:64745] -synonym: "pruritic urticarial papules and plaques of pregnancy" EXACT [MONDO:Lexical, OMIM:178995] +synonym: "polymorphic eruption of pregnancy" EXACT [icd11.foundation:968694549, OMIM:178995, Orphanet:64745] +synonym: "pruritic urticarial papules and plaques of pregnancy" EXACT [icd11.foundation:968694549, MONDO:Lexical, OMIM:178995, Orphanet:64745] synonym: "pruritic urticarial papules and plaques of pregnancy, familial (subtype)" RELATED [GARD:0009635] synonym: "pruritic urticarial papules plaques of pregnancy" RELATED [GARD:0009635] -synonym: "PUPPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:178995] +synonym: "PUPPP" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:9635 {source="MONDO:GARD"} xref: ICD10CM:O26.8 {source="Orphanet:64745", source="Orphanet:64745/ntbt"} xref: icd11.foundation:968694549 {source="MONDO:equivalentTo", source="Orphanet:64745", source="https://orcid.org/0000-0002-4142-7153"} @@ -173535,9 +173558,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008355 name: pyloric stenosis, infantile hypertrophic, 1 synonym: "IHPS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:179010] -synonym: "pyloric stenosis, infantile" RELATED [OMIM:179010] -synonym: "pyloric stenosis, infantile hypertrophic" RELATED [OMIM:179010] -synonym: "pyloric stenosis, infantile hypertrophic 1, multifactorial" EXACT [OMIM:179010, OMIM:genemap2] +synonym: "pyloric stenosis, infantile" RELATED [] +synonym: "pyloric stenosis, infantile hypertrophic" RELATED [] +synonym: "pyloric stenosis, infantile hypertrophic 1, multifactorial" EXACT [] synonym: "pyloric stenosis, infantile hypertrophic, 1" EXACT [MONDO:Lexical, OMIM:179010] xref: MEDGEN:357978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:179010 {source="MONDO:equivalentTo"} @@ -173599,7 +173622,7 @@ subset: rare synonym: "Goldblatt-Viljoen syndrome" EXACT [Orphanet:3026] synonym: "radial ray hypoplasia and choanal atresia" RELATED [GARD:0004627] synonym: "radial ray hypoplasia choanal atresia" RELATED [GARD:0004627] -synonym: "radial RAY hypoplasia with choanal atresia" RELATED [OMIM:179270] +synonym: "radial RAY hypoplasia with choanal atresia" RELATED [] xref: GARD:4627 {source="MONDO:GARD"} xref: MEDGEN:419083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536263 {source="Orphanet:3026", source="Orphanet:3026/e"} @@ -173621,7 +173644,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:3015"} subset: orphanet_rare {source="Orphanet:3015"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "radial-renal syndrome" RELATED [OMIM:179280] +synonym: "radial-renal syndrome" RELATED [] synonym: "radio renal syndrome" RELATED [GARD:0000224] xref: GARD:224 {source="MONDO:GARD"} xref: MEDGEN:419723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -173678,12 +173701,12 @@ id: MONDO:0008364 name: Raynaud disease def: "An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "cold fingers, hereditary" RELATED [OMIM:179600] -synonym: "Raynaud disease" EXACT [OMIM:179600] +synonym: "cold fingers, hereditary" RELATED [] +synonym: "Raynaud disease" EXACT [DOID:10300, OMIM:179600] synonym: "Raynaud syndrome" EXACT [NCIT:C116359] -synonym: "Raynaud's disease" EXACT [DOID:10300, MTH:639, NCIT:C34972] -synonym: "Raynaud's syndrome" EXACT [DOID:10300, ICD9CM:443.0] -synonym: "Raynaud's syndrome (disorder) [ambiguous]" EXACT [DOID:10300] +synonym: "Raynaud's disease" EXACT [DOID:10300, ICD10CM:I73.0, MTH:639] +synonym: "Raynaud's syndrome" EXACT [DOID:10300, ICD10CM:I73.0, ICD9CM:443.0, NCIT:C116359] +synonym: "Raynaud's syndrome (disorder) [ambiguous]" EXACT [] synonym: "secondary Raynaud disease" EXACT [NCIT:C116359] synonym: "secondary Raynaud phenomenon" EXACT [NCIT:C116359] synonym: "secondary Raynaud's disease" EXACT [NCIT:C116359] @@ -173715,12 +173738,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:96167"} subset: orphanet_rare {source="Orphanet:96167"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion" RELATED [OMIM:179613] +synonym: "chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion" RELATED [] synonym: "Duplication 8q/deletion 8p" EXACT [Orphanet:96167] synonym: "Rec(8) syndrome" EXACT [Orphanet:96167] synonym: "Rec8 syndrome" EXACT [OMIM:179613, Orphanet:96167] -synonym: "RECOMBINANT chromosome 8 syndrome" RELATED [OMIM:179613] -synonym: "Recombinant chromosome 8 syndrome" EXACT [Orphanet:96167] +synonym: "RECOMBINANT chromosome 8 syndrome" RELATED [] +synonym: "Recombinant chromosome 8 syndrome" EXACT [OMIM:179613, Orphanet:96167] synonym: "San Luis Valley recombinant chromosome 8 syndrome" RELATED [GARD:0009698] synonym: "San Luis Valley syndrome" EXACT [OMIM:179613, Orphanet:96167] xref: GARD:9698 {source="MONDO:GARD"} @@ -173736,7 +173759,7 @@ is_a: MONDO:0003847 {source="MESH:C535296/inferred", source="Orphanet:96167/infe [Term] id: MONDO:0008366 name: red cell permeability defect -synonym: "elliptocytosis with transverse slitlike changes" RELATED [OMIM:179650] +synonym: "elliptocytosis with transverse slitlike changes" RELATED [] synonym: "red cell permeability defect" EXACT [OMIM:179650] xref: MEDGEN:357961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:179650 {source="MONDO:equivalentTo"} @@ -173747,10 +173770,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008367 name: red cell phospholipid defect with hemolysis synonym: "high Red cell phosphatidylcholine hemolytic Anaemia" RELATED OMO:0003005 [] -synonym: "high Red cell phosphatidylcholine hemolytic Anemia" RELATED [OMIM:179700] +synonym: "high Red cell phosphatidylcholine hemolytic Anemia" RELATED [] synonym: "HPCHA" RELATED ABBREVIATION [GARD:0010013] -synonym: "leaky Red cell syndrome" RELATED [OMIM:179700] -synonym: "phosphatidylcholine Red cell Membrane disorder" RELATED [OMIM:179700] +synonym: "leaky Red cell syndrome" RELATED [] +synonym: "phosphatidylcholine Red cell Membrane disorder" RELATED [] synonym: "red cell phospholipid defect with hemolysis" EXACT [OMIM:179700] xref: MEDGEN:357960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535298 {source="MONDO:equivalentTo"} @@ -173773,12 +173796,12 @@ synonym: "AD dRTA" EXACT [Orphanet:93608] synonym: "autosomal dominant distal renal tubular acidosis (disease)" EXACT [] synonym: "autosomal dominant SLC4A1-associated distal renal tubular acidosis" RELATED [GARD:0004668] synonym: "distal renal tubular acidosis (disease), autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -synonym: "distal renal tubular acidosis 1" EXACT [OMIM:179800, OMIM:genemap2] -synonym: "renal tubular acidosis 1" RELATED [OMIM:179800] -synonym: "renal tubular acidosis, distal, autosomal dominant" RELATED [OMIM:179800] -synonym: "RTA, classic type" RELATED [OMIM:179800] -synonym: "RTA, distal type, autosomal dominant" RELATED [OMIM:179800] -synonym: "RTA, gradient type" RELATED [OMIM:179800] +synonym: "distal renal tubular acidosis 1" EXACT [] +synonym: "renal tubular acidosis 1" RELATED [] +synonym: "renal tubular acidosis, distal, autosomal dominant" RELATED [] +synonym: "RTA, classic type" RELATED [] +synonym: "RTA, distal type, autosomal dominant" RELATED [] +synonym: "RTA, gradient type" RELATED [] xref: GARD:4668 {source="MONDO:GARD"} xref: ICD10CM:N25.8 {source="Orphanet:93608", source="Orphanet:93608/attributed", source="Orphanet:93608/ntbt"} xref: MESH:C538565 {source="Orphanet:93608", source="Orphanet:93608/e"} @@ -173802,11 +173825,11 @@ subset: orphanet_rare {source="Orphanet:47159"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "pRTA" EXACT [Orphanet:47159] -synonym: "renal tubular acidosis 2" RELATED [OMIM:179830] +synonym: "renal tubular acidosis 2" RELATED [] synonym: "renal tubular acidosis type 2" EXACT [Orphanet:47159] -synonym: "renal tubular acidosis, proximal" RELATED [OMIM:179830] -synonym: "RTA, proximal type" RELATED [OMIM:179830] -synonym: "RTA, rate type" RELATED [OMIM:179830] +synonym: "renal tubular acidosis, proximal" RELATED [] +synonym: "RTA, proximal type" RELATED [] +synonym: "RTA, rate type" RELATED [] synonym: "Type 2 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] synonym: "Type 2 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] xref: GARD:16644 {source="MONDO:GARD"} @@ -173838,9 +173861,9 @@ subset: orphanet_rare {source="Orphanet:79145"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dark dot disease" EXACT [DOID:0060256] -synonym: "DDD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:179850] -synonym: "Dowling-Degos disease 1" RELATED [MONDO:Lexical, OMIM:179850] -synonym: "Dowling-Degos disease type 1" EXACT [MONDORULE:1, OMIM:179850] +synonym: "DDD1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Dowling-Degos disease 1" RELATED [MONDO:Lexical] +synonym: "Dowling-Degos disease type 1" EXACT [MONDORULE:1] synonym: "Dowling-Degos Kitamura disease" RELATED [GARD:0009775] synonym: "reticular pigment anomaly of flexures" EXACT [DOID:0060256, Orphanet:79145] xref: DOID:0060256 {source="MONDO:equivalentTo"} @@ -173866,7 +173889,7 @@ name: retinal aplasia subset: gard_rare {source="GARD:15109", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "amaurosis congenita" RELATED [OMIM:179900] +synonym: "amaurosis congenita" RELATED [] synonym: "retinal aplasia" EXACT [OMIM:179900] xref: GARD:15109 {source="MONDO:GARD"} xref: MEDGEN:356752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -173885,14 +173908,14 @@ subset: ordo_disorder {source="Orphanet:75326"} subset: orphanet_rare {source="Orphanet:75326"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "RATOR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:180000] -synonym: "retinal arterial tortuosity" EXACT [MONDO:ambiguous] +synonym: "RATOR" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "retinal arterial tortuosity" EXACT [DOID:0111547, MONDO:ambiguous] synonym: "retinal arterial tortuosity (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "retinal arteries, tortuosity OF" RELATED [MONDO:Lexical, OMIM:180000] -synonym: "retinal arteriolar tortuosity" EXACT [Orphanet:75326] +synonym: "retinal arteries, tortuosity OF" RELATED [MONDO:Lexical] +synonym: "retinal arteriolar tortuosity" EXACT [DOID:0111547, Orphanet:75326] synonym: "retinal haemorrhage with vascular tortuosity" EXACT OMO:0003005 [] -synonym: "retinal hemorrhage with vascular tortuosity" EXACT [OMIM:180000, Orphanet:75326] -synonym: "tortuosity of retinal arteries" EXACT [Orphanet:75326] +synonym: "retinal hemorrhage with vascular tortuosity" EXACT [DOID:0111547, OMIM:180000, Orphanet:75326] +synonym: "tortuosity of retinal arteries" EXACT [DOID:0111547, Orphanet:75326] xref: DOID:0111547 {source="MONDO:equivalentTo"} xref: GARD:16693 {source="MONDO:GARD"} xref: HP:0001136 {source="MONDO:otherHierarchy"} @@ -173912,11 +173935,11 @@ subset: gard_rare {source="GARD:3196", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cone dystrophy autosomal dominant" RELATED [GARD:0003196] -synonym: "cone dystrophy, autosomal dominant" RELATED [OMIM:180020] -synonym: "RCD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:180020] -synonym: "retinal cone Degeneration" RELATED [OMIM:180020] -synonym: "retinal cone dystrophy 1" RELATED [MONDO:Lexical, OMIM:180020] -synonym: "retinal cone dystrophy-1" EXACT [OMIM:180020, OMIM:genemap2] +synonym: "cone dystrophy, autosomal dominant" RELATED [] +synonym: "RCD1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "retinal cone Degeneration" RELATED [] +synonym: "retinal cone dystrophy 1" RELATED [MONDO:Lexical] +synonym: "retinal cone dystrophy-1" EXACT [] xref: DOID:0081024 {source="MONDO:equivalentTo"} xref: GARD:3196 {source="MONDO:GARD"} xref: MEDGEN:356747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -173932,9 +173955,9 @@ id: MONDO:0008375 name: retinal detachment def: "An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "detached retina" EXACT [NCIT:C26874] -synonym: "retina, detached" EXACT [NCIT:C26874] -synonym: "retinal detachment" EXACT [OMIM:180050] +synonym: "detached retina" EXACT [] +synonym: "retina, detached" EXACT [] +synonym: "retinal detachment" EXACT [DOID:5327, NCIT:C26874, OMIM:180050] xref: DOID:5327 {source="EFO:0005773", source="MONDO:equivalentTo"} xref: EFO:0005773 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H33.2 {source="DOID:5327"} @@ -173970,11 +173993,11 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:9149", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa" RELATED [MONDO:Lexical, OMIM:268000] -synonym: "retinitis pigmentosa 1" EXACT [MONDO:Lexical, OMIM:180100] +synonym: "retinitis pigmentosa" RELATED [MONDO:Lexical] +synonym: "retinitis pigmentosa 1" EXACT [DOID:0110390, MONDO:Lexical, OMIM:180100] synonym: "retinitis pigmentosa caused by mutation in RP1" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 1" EXACT [DOID:0110390, MONDO:0009981, MONDORULE:1, OMIM:180100] -synonym: "RP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268000] +synonym: "retinitis pigmentosa type 1" EXACT [MONDO:0009981, MONDORULE:1] +synonym: "RP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "RP1" EXACT ABBREVIATION [DOID:0110390, MONDO:Lexical, OMIM:180100] synonym: "RP1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110390 {source="MONDO:equivalentTo"} @@ -173998,9 +174021,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:10382", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 9" EXACT [MONDO:Lexical, OMIM:180104] +synonym: "retinitis pigmentosa 9" EXACT [DOID:0110387, MONDO:Lexical, OMIM:180104] synonym: "retinitis pigmentosa caused by mutation in RP9" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 9" EXACT [DOID:0110387, MONDORULE:1, OMIM:180104] +synonym: "retinitis pigmentosa type 9" EXACT [MONDORULE:1] synonym: "RP 9" RELATED [GARD:0010382] synonym: "RP9" EXACT ABBREVIATION [DOID:0110387, MONDO:Lexical, OMIM:180104] synonym: "RP9 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -174025,9 +174048,9 @@ subset: gard_rare {source="GARD:15110", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "IMPDH1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 10" EXACT [MONDO:Lexical, OMIM:180105] +synonym: "retinitis pigmentosa 10" EXACT [DOID:0110388, MONDO:Lexical, OMIM:180105] synonym: "retinitis pigmentosa caused by mutation in IMPDH1" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 10" EXACT [DOID:0110388, MONDORULE:2, OMIM:180105] +synonym: "retinitis pigmentosa type 10" EXACT [MONDORULE:2] synonym: "RP10" EXACT ABBREVIATION [DOID:0110388, MONDO:Lexical, OMIM:180105] xref: DOID:0110388 {source="MONDO:equivalentTo"} xref: GARD:15110 {source="MONDO:GARD"} @@ -174053,12 +174076,12 @@ subset: orphanet_rare {source="Orphanet:790"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "eye cancer, retinoblastoma" RELATED [GARD:0007563] -synonym: "neuroblastoma of retina" RELATED EXCLUDE [DOID:768] +synonym: "neuroblastoma of retina" RELATED EXCLUDE [] synonym: "RB" EXACT ABBREVIATION [DOID:768, NCIT:C7541] -synonym: "Rb" RELATED [OMIM:180200] +synonym: "Rb" RELATED [] synonym: "RB - retinoblastoma" EXACT [DOID:768] -synonym: "RB1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:180200] -synonym: "retinoblastoma" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:180200] +synonym: "RB1" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "retinoblastoma" EXACT CLINGEN_LABEL [DOID:768, icd11.foundation:1855353671, MONDO:Lexical, NCIT:C7541, Orphanet:790] synonym: "retinoblastoma, malignant" EXACT [NCIT:C7541] xref: DOID:768 {source="MONDO:equivalentTo"} xref: GARD:7563 {source="MONDO:GARD"} @@ -174099,7 +174122,7 @@ def: "A retinitis pigmentosa that is characterized pigmentary retinal degenerati subset: gard_rare {source="GARD:15111", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinopathy, pericentral pigmentary, dominant" RELATED [OMIM:180210] +synonym: "retinopathy, pericentral pigmentary, dominant" RELATED [] xref: DOID:0110420 {source="MONDO:equivalentTo"} xref: GARD:15111 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110420"} @@ -174136,13 +174159,13 @@ name: rheumatoid arthritis def: "A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor." [NCIT:C2884] subset: otar {source="MONDO:OTAR"} synonym: "arthritis or polyarthritis, rheumatic" EXACT [DOID:7148] -synonym: "arthritis, rheumatoid" EXACT [NCIT:C2884] -synonym: "atrophic arthritis" BROAD [DOID:7148, NCIT:C27206] +synonym: "arthritis, rheumatoid" EXACT [] +synonym: "atrophic arthritis" BROAD [] synonym: "autoimmune arthritis" EXACT [] synonym: "RA" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C2884, OMIM:180300] -synonym: "rheumatoid arthritis" EXACT [MONDO:Lexical, NCIT:C2884, OMIM:180300] -synonym: "rheumatoid arthritis, progression of" EXACT [OMIM:180300, OMIM:genemap2] -synonym: "rheumatoid arthritis, susceptibility to" RELATED [OMIM:180300] +synonym: "rheumatoid arthritis" EXACT [DOID:7148, icd11.foundation:576319925, MONDO:Lexical, NCIT:C2884, OMIM:180300] +synonym: "rheumatoid arthritis, progression of" EXACT [] +synonym: "rheumatoid arthritis, susceptibility to" RELATED [] xref: DOID:7148 {source="MONDO:equivalentTo", source="EFO:0000685"} xref: EFO:0000685 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0001370 {source="MONDO:otherHierarchy", source="https://orcid.org/0000-0001-9859-8589"} @@ -174190,7 +174213,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9625/rheumat id: MONDO:0008385 name: rhiny subset: n_of_one -synonym: "craniorhiny" RELATED [OMIM:180360] +synonym: "craniorhiny" RELATED [] synonym: "rhiny" EXACT [OMIM:180360] xref: MEDGEN:401188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566708 {source="MONDO:equivalentTo"} @@ -174206,14 +174229,14 @@ subset: gard_rare {source="GARD:10281", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Axenfeld-Rieger syndrome caused by mutation in PITX2" EXACT [MONDO:design_pattern] -synonym: "Axenfeld-Rieger syndrome type 1" EXACT CLINGEN_LABEL [] -synonym: "Axenfeld-Rieger syndrome, type 1" RELATED [MONDO:Lexical, OMIM:180500] +synonym: "Axenfeld-Rieger syndrome type 1" EXACT CLINGEN_LABEL [DOID:0110120] +synonym: "Axenfeld-Rieger syndrome, type 1" RELATED [MONDO:Lexical] synonym: "PITX2 Axenfeld-Rieger syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Rgs" RELATED [OMIM:180500] -synonym: "Rieg" RELATED [OMIM:180500] +synonym: "Rgs" RELATED [] +synonym: "Rieg" RELATED [] synonym: "RIEG1" EXACT ABBREVIATION [DOID:0110120, MONDO:Lexical, OMIM:180500] -synonym: "Rieger syndrome type 1" EXACT [DOID:0110120] -synonym: "Rieger syndrome, type 1" RELATED [OMIM:180500] +synonym: "Rieger syndrome type 1" EXACT [DOID:0110120, NCIT:C75015] +synonym: "Rieger syndrome, type 1" RELATED [] xref: DOID:0110120 {source="MONDO:equivalentTo"} xref: GARD:10281 {source="MONDO:GARD"} xref: ICD10CM:Q13.8 {source="DOID:0110120"} @@ -174239,10 +174262,10 @@ subset: orphanet_rare {source="Orphanet:91481"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bilateral, annular limbal dermoids with corneal and conjunctival extension" RELATED [GARD:0009696] -synonym: "RDC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:180550] -synonym: "RING dermoid of cornea" RELATED [OMIM:180550] -synonym: "ring dermoid of cornea" EXACT [MONDO:Lexical, OMIM:180550] -synonym: "Ring dermoid syndrome" EXACT [Orphanet:91481] +synonym: "RDC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "RING dermoid of cornea" RELATED [] +synonym: "ring dermoid of cornea" EXACT [DOID:0111548, icd11.foundation:271430543, MONDO:Lexical, OMIM:180550, Orphanet:91481] +synonym: "Ring dermoid syndrome" EXACT [DOID:0111548, Orphanet:91481] xref: DOID:0111548 {source="MONDO:equivalentTo"} xref: GARD:9696 {source="MONDO:GARD"} xref: ICD10CM:D31.1 {source="Orphanet:91481", source="Orphanet:91481/ntbt"} @@ -174268,7 +174291,7 @@ subset: orphanet_rare {source="Orphanet:169"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "pili annulati" EXACT [OMIM:180600, Orphanet:169] -synonym: "ringed hair" RELATED [OMIM:180600] +synonym: "ringed hair" RELATED [] xref: GARD:4359 {source="MONDO:GARD"} xref: ICD10CM:Q84.1 {source="Orphanet:169", source="Orphanet:169/index", source="Orphanet:169/ntbt"} xref: MEDGEN:75523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -174289,7 +174312,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:3107"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant Robinow syndrome" EXACT CLINGEN_LABEL [Orphanet:3107] +synonym: "autosomal dominant Robinow syndrome" EXACT CLINGEN_LABEL [icd11.foundation:807338758, Orphanet:3107] synonym: "Robinow syndrome, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant] synonym: "Robinow syndrome, autosomal dominant type" EXACT [MONDORULE:1] xref: GARD:16620 {source="MONDO:GARD"} @@ -174316,7 +174339,7 @@ subset: ordo_disorder {source="Orphanet:3110"} subset: orphanet_rare {source="Orphanet:3110"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Rombo syndrome" EXACT [OMIM:180730] +synonym: "Rombo syndrome" EXACT [OMIM:180730, Orphanet:3110] synonym: "vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis" RELATED [GARD:0004738] xref: GARD:4738 {source="MONDO:GARD"} xref: ICD10CM:L98.8 {source="Orphanet:3110/attributed", source="Orphanet:3110/ntbt", source="Orphanet:3110"} @@ -174338,9 +174361,9 @@ id: MONDO:0008391 name: Robinow-Sorauf syndrome subset: gard_rare {source="GARD:4730", source="MONDO:GARD"} subset: rare -synonym: "acrocephalosyndactyly, Robinow-Sorauf type" RELATED [OMIM:180750] -synonym: "craniosynostosis-bifid hallux syndrome" RELATED [OMIM:180750] -synonym: "Robinow-Sorauf syndrome" EXACT [OMIM:180750] +synonym: "acrocephalosyndactyly, Robinow-Sorauf type" RELATED [] +synonym: "craniosynostosis-bifid hallux syndrome" RELATED [] +synonym: "Robinow-Sorauf syndrome" EXACT [icd11.foundation:1272297510, OMIM:180750] xref: GARD:4730 {source="MONDO:GARD"} xref: icd11.foundation:1272297510 {source="MONDO:equivalentTo"} xref: MEDGEN:356703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -174363,7 +174386,7 @@ subset: rare synonym: "Charcot-Marie-Tooth disease (variant)" RELATED [GARD:0004741] synonym: "Charcot-Marie-Tooth-Roussy-levy disease" RELATED [GARD:0004741] synonym: "hereditary areflexic dystasia" RELATED [GARD:0004741] -synonym: "hereditary areflexic dystasia, Roussy-levy type" EXACT [Orphanet:3115] +synonym: "hereditary areflexic dystasia, Roussy-levy type" EXACT [] synonym: "hereditary areflexic dystasia, Roussy-Lévy type" EXACT [Orphanet:3115] synonym: "hereditary motor sensory neuropathy I" RELATED [GARD:0004741] synonym: "HMSN I" RELATED [GARD:0004741] @@ -174371,8 +174394,8 @@ synonym: "Roussy levy hereditary areflexic dystasia" RELATED [GARD:0004741] synonym: "Roussy levy syndrome" EXACT [GARD:0004741] synonym: "Roussy Lévy Syndrome" EXACT [NORD:1679] synonym: "Roussy-levy disease" EXACT [GARD:0004741] -synonym: "Roussy-levy hereditary areflexic dystasia" RELATED [OMIM:180800] -synonym: "Roussy-levy syndrome" EXACT [OMIM:180800] +synonym: "Roussy-levy hereditary areflexic dystasia" RELATED [] +synonym: "Roussy-levy syndrome" EXACT [icd11.foundation:1790389383, OMIM:180800] synonym: "Roussy-Lévy syndrome" EXACT [Orphanet:3115] xref: GARD:4741 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:3115/attributed", source="Orphanet:3115/ntbt", source="Orphanet:3115"} @@ -174398,17 +174421,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:353277"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "broad thumb-hallux syndrome" RELATED [OMIM:180849] -synonym: "broad thumbs and great toes, characteristic facies, and intellectual disability" RELATED [OMIM:180849] -synonym: "broad thumbs and great toes, characteristic facies, and mental retardation" RELATED DEPRECATED [OMIM:180849] +synonym: "broad thumb-hallux syndrome" RELATED [] +synonym: "broad thumbs and great toes, characteristic facies, and intellectual disability" RELATED [] +synonym: "broad thumbs and great toes, characteristic facies, and mental retardation" RELATED DEPRECATED [] synonym: "CREBBP Rubinstein-Taybi syndrome" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "RSTS" RELATED ABBREVIATION [OMIM:180849] -synonym: "RSTS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180849] -synonym: "Rubinstein syndrome" RELATED [OMIM:180849] +synonym: "RSTS" RELATED ABBREVIATION [] +synonym: "RSTS1" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C153290, OMIM:180849] +synonym: "Rubinstein syndrome" RELATED [] synonym: "Rubinstein-Taybi syndrome 1" EXACT [MONDO:Lexical, OMIM:180849] synonym: "Rubinstein-Taybi syndrome caused by mutation in CREBBP" EXACT [] -synonym: "Rubinstein-Taybi syndrome due to CREBBP mutations" EXACT CLINGEN_LABEL [] -synonym: "Rubinstein-Taybi syndrome type 1" EXACT [MONDORULE:1, OMIM:180849] +synonym: "Rubinstein-Taybi syndrome due to CREBBP mutations" EXACT CLINGEN_LABEL [Orphanet:353277] +synonym: "Rubinstein-Taybi syndrome type 1" EXACT [MONDORULE:1, NCIT:C153290] xref: GARD:17534 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:353277", source="Orphanet:353277/attributed", source="Orphanet:353277/ntbt"} xref: MEDGEN:1639327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -174436,13 +174459,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Russell Silver syndrome" EXACT [GARD:0004870] synonym: "Russell-Silver dwarfism" EXACT [NCIT:C85068] -synonym: "Russell-Silver Syndrome" EXACT [NORD:1683] -synonym: "Russell-Silver syndrome" EXACT [OMIM:180860] +synonym: "Russell-Silver Syndrome" EXACT [icd11.foundation:735297495, NCIT:C85068, NORD:1683] +synonym: "Russell-Silver syndrome" EXACT [icd11.foundation:735297495, NCIT:C85068] synonym: "Silver Russell dwarfism" EXACT [DOID:14681] synonym: "Silver Russell syndrome" EXACT [GARD:0004870] -synonym: "Silver-Russell dwarfism" EXACT [OMIM:180860, Orphanet:813] -synonym: "Silver-Russell syndrome" EXACT [MONDO:Lexical, OMIM:180860] -synonym: "SRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180860] +synonym: "Silver-Russell dwarfism" EXACT [icd11.foundation:735297495, NCIT:C85068, Orphanet:813] +synonym: "Silver-Russell syndrome" EXACT [DOID:14681, icd11.foundation:735297495, MONDO:Lexical, NCIT:C85068, OMIMPS:180860, Orphanet:813] +synonym: "SRS" EXACT ABBREVIATION [MONDO:Lexical] xref: DOID:14681 {source="MONDO:equivalentTo"} xref: GARD:4870 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:813/inclusion", source="DOID:14681", source="Orphanet:813", source="Orphanet:813/ntbt"} @@ -174474,7 +174497,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:3121"} subset: orphanet_rare {source="Orphanet:3121"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ruvalcaba syndrome" EXACT [OMIM:180870] +synonym: "Ruvalcaba syndrome" EXACT [OMIM:180870, Orphanet:3121] xref: GARD:4748 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3121/attributed", source="Orphanet:3121/ntbt", source="Orphanet:3121"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -174501,7 +174524,7 @@ subset: orphanet_rare {source="Orphanet:2709"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "corneal dystrophy with gum Hypertrophy" EXACT [OMIM:180900] -synonym: "corneal dystrophy with gum hypertrophy" EXACT [GARD:0000212] +synonym: "corneal dystrophy with gum hypertrophy" EXACT [GARD:0000212, OMIM:180900] synonym: "gingival hypertrophy corneal dystrophy" EXACT [GARD:0000212] synonym: "gingival Hypertrophy with corneal dystrophy" EXACT [OMIM:180900] synonym: "gingival hypertrophy-corneal dystrophy" EXACT [Orphanet:2709] @@ -174531,12 +174554,12 @@ subset: ordo_disorder {source="Orphanet:86815"} subset: orphanet_rare {source="Orphanet:86815"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALSG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180920, Orphanet:86815] -synonym: "aplasia of lacrimal and salivary glands" EXACT [MONDO:Lexical, OMIM:180920] -synonym: "congenital absence of lacrimal puncta and salivary glands" EXACT [Orphanet:86815] -synonym: "parotid aplasia or hypoplasia" RELATED [OMIM:180920] -synonym: "salivary glands, absence of" RELATED [OMIM:180920] -synonym: "salivary glands, absence of, include" RELATED [OMIM:180920] +synonym: "ALSG" EXACT ABBREVIATION [DOID:0111549, MONDO:Lexical, OMIM:180920, Orphanet:86815] +synonym: "aplasia of lacrimal and salivary glands" EXACT [DOID:0111549, MONDO:Lexical, OMIM:180920, Orphanet:86815] +synonym: "congenital absence of lacrimal puncta and salivary glands" EXACT [DOID:0111549, Orphanet:86815] +synonym: "parotid aplasia or hypoplasia" RELATED [] +synonym: "salivary glands, absence of" RELATED [] +synonym: "salivary glands, absence of, include" RELATED [] xref: DOID:0111549 {source="MONDO:equivalentTo"} xref: GARD:16759 {source="MONDO:GARD"} xref: ICD10CM:Q10.4 {source="Orphanet:86815/nd", source="Orphanet:86815/attributed", source="Orphanet:86815"} @@ -174565,14 +174588,14 @@ id: MONDO:0008399 name: sarcoidosis, susceptibility to, 1 def: "Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "Boeck sarcoid" RELATED [OMIM:181000] +synonym: "Boeck sarcoid" RELATED [] synonym: "HLA-DRB1 sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "sarcoidosis" BROAD [OMIM:181000] +synonym: "sarcoidosis" BROAD [] synonym: "sarcoidosis caused by mutation in HLA-DRB1" EXACT [MONDO:design_pattern] synonym: "sarcoidosis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:181000] -synonym: "sarcoidosis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:181000] -synonym: "SS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181000] -synonym: "susceptibility to sarcoidosis 1" RELATED [OMIM:181000] +synonym: "sarcoidosis, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "SS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to sarcoidosis 1" RELATED [] xref: ICD9:135 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:394568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:181000 {source="MONDO:equivalentTo"} @@ -174587,9 +174610,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008400 name: salivary duct calculi def: "Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts." [MESH:D012465] -synonym: "parotid duct calculi" RELATED [OMIM:181010] +synonym: "parotid duct calculi" RELATED [] synonym: "salivary duct calculi" EXACT [OMIM:181010] -synonym: "submandibular duct calculi" RELATED [OMIM:181010] +synonym: "submandibular duct calculi" RELATED [] xref: MEDGEN:19865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D012465 {source="MONDO:equivalentTo"} xref: OMIM:181010 {source="MONDO:equivalentTo"} @@ -174605,15 +174628,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_histopathological_subtype {source="Orphanet:454821"} subset: ordo_subtype_of_a_disorder {source="Orphanet:454821"} subset: rare -synonym: "adenomas, salivary gland pleomorphic, somatic" EXACT [OMIM:181030, OMIM:genemap2] -synonym: "mixed tumor of the salivary gland" RELATED [DOID:452, NCIT:C35691] +synonym: "adenomas, salivary gland pleomorphic, somatic" EXACT [] +synonym: "mixed tumor of the salivary gland" RELATED [] synonym: "mixed tumour of the salivary gland" RELATED OMO:0003005 [] synonym: "pleomorphic adenoma" EXACT [DOID:452, NCIT:C8602] -synonym: "pleomorphic adenoma (morphologic abnormality)" EXACT [DOID:452] -synonym: "pleomorphic salivary gland adenoma" RELATED [Orphanet:454821] -synonym: "Psa" RELATED [OMIM:181030] -synonym: "salivary gland adenoma, pleomorphic" RELATED [OMIM:181030] -synonym: "Sgpa" RELATED [OMIM:181030] +synonym: "pleomorphic adenoma (morphologic abnormality)" EXACT [] +synonym: "pleomorphic salivary gland adenoma" RELATED [] +synonym: "Psa" RELATED [] +synonym: "salivary gland adenoma, pleomorphic" RELATED [] +synonym: "Sgpa" RELATED [] synonym: "tumor, mixed, benign" EXACT [NCIT:C8602] xref: DOID:452 {source="MONDO:equivalentTo"} xref: GARD:17789 {source="MONDO:GARD"} @@ -174646,9 +174669,9 @@ subset: orphanet_rare {source="Orphanet:2013"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cleft palate large ears small head" RELATED [GARD:0000162] -synonym: "cleft palate, microcephaly, large ears, and short stature" RELATED [GARD:0000162, OMIM:181180] +synonym: "cleft palate, microcephaly, large ears, and short stature" RELATED [GARD:0000162] synonym: "Say Barber Hobbs syndrome" RELATED [GARD:0000162] -synonym: "SAY syndrome" RELATED [OMIM:181180] +synonym: "SAY syndrome" RELATED [] synonym: "Say-Barber-Hobbs syndrome" EXACT [Orphanet:2013] xref: GARD:162 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2013/attributed", source="Orphanet:2013/ntbt", source="Orphanet:2013"} @@ -174672,7 +174695,7 @@ subset: orphanet_rare {source="Orphanet:1003"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital scalp defects associated with postaxial polydactyly" RELATED [GARD:0000241] -synonym: "scalp defects and postaxial polydactyly" RELATED [OMIM:181250] +synonym: "scalp defects and postaxial polydactyly" RELATED [] synonym: "scalp defects postaxial polydactyly" RELATED [GARD:0000241] xref: GARD:241 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:1003/attributed", source="Orphanet:1003/ntbt", source="Orphanet:1003"} @@ -174700,13 +174723,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:2036"} subset: orphanet_rare {source="Orphanet:2036"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Finlay-Marks syndrome" EXACT [GARD:0000159, OMIM:181270, Orphanet:2036] +synonym: "Finlay-Marks syndrome" EXACT [DOID:0111550, GARD:0000159, OMIM:181270, Orphanet:2036] synonym: "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" RELATED [GARD:0000159] synonym: "scalp ear nipple syndrome" RELATED [GARD:0000159] -synonym: "scalp-EAR-nipple syndrome" RELATED [OMIM:181270] -synonym: "scalp-ear-nipple syndrome" EXACT [GARD:0000159, MONDO:Lexical, OMIM:181270] -synonym: "Sen syndrome" RELATED [GARD:0000159, OMIM:181270] -synonym: "SENS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181270] +synonym: "scalp-EAR-nipple syndrome" RELATED [] +synonym: "scalp-ear-nipple syndrome" EXACT [DOID:0111550, GARD:0000159, icd11.foundation:88843032, MONDO:Lexical, OMIM:181270, Orphanet:2036] +synonym: "Sen syndrome" RELATED [GARD:0000159] +synonym: "SENS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111550 {source="MONDO:equivalentTo"} xref: GARD:159 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2036", source="Orphanet:2036/attributed", source="Orphanet:2036/ntbt"} @@ -174726,7 +174749,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008405 name: obsolete scapula, contour of vertebral border of comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "scapula, contour of vertebral border of" EXACT [OMIM:181300] +synonym: "scapula, contour of vertebral border of" EXACT [] xref: OMIM:181300 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -174738,7 +174761,7 @@ name: obsolete autosomal recessive Emery-Dreifuss muscular dystrophy def: "OBSOLETE. Autosomal recessive form of Emery-Dreifuss muscular dystrophy." [MONDO:patterns/autosomal_recessive] subset: ordo_subtype_of_a_disorder {source="Orphanet:98855"} subset: otar {source="MONDO:OTAR"} -synonym: "EDMD3" EXACT ABBREVIATION [Orphanet:98855] +synonym: "EDMD3" EXACT ABBREVIATION [] synonym: "Emery-Dreifuss muscular dystrophy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: ICD10CM:G71.0 {source="Orphanet:98855/attributed", source="Orphanet:98855/ntbt", source="Orphanet:98855"} xref: MESH:D020389 {source="Orphanet:98855", source="Orphanet:98855/e"} @@ -174760,11 +174783,11 @@ subset: ordo_disorder {source="Orphanet:85146"} subset: orphanet_rare {source="Orphanet:85146"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Kaeser syndrome" EXACT [OMIM:181400, Orphanet:85146] -synonym: "scapuloperoneal syndrome, neurogenic type, of Kaeser" RELATED [OMIM:181400] -synonym: "scapuloperoneal syndrome, neurogenic, Kaeser type" RELATED [MONDO:Lexical, OMIM:181400] -synonym: "SCPNK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:181400] -synonym: "stark-Kaeser syndrome" EXACT [OMIM:181400, Orphanet:85146] +synonym: "Kaeser syndrome" EXACT [DOID:0111551, OMIM:181400, Orphanet:85146] +synonym: "scapuloperoneal syndrome, neurogenic type, of Kaeser" RELATED [] +synonym: "scapuloperoneal syndrome, neurogenic, Kaeser type" RELATED [MONDO:Lexical] +synonym: "SCPNK" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "stark-Kaeser syndrome" EXACT [DOID:0111551, OMIM:181400, Orphanet:85146] xref: DOID:0111551 {source="MONDO:equivalentTo"} xref: GARD:10312 {source="MONDO:GARD"} xref: ICD10CM:G12.1 {source="Orphanet:85146/ntbt", source="Orphanet:85146", source="Orphanet:85146/inclusion"} @@ -174788,11 +174811,11 @@ subset: ordo_disorder {source="Orphanet:431255"} subset: orphanet_rare {source="Orphanet:431255"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amyotrophy, neurogenic scapuloperoneal, New England type" RELATED [OMIM:181405] -synonym: "neurogenic scapuloperoneal amyotrophy, New England type" EXACT [Orphanet:431255] -synonym: "scapuloperoneal neuronopathy" EXACT [Orphanet:431255] -synonym: "scapuloperoneal spinal muscular atrophy" EXACT [MONDO:Lexical, OMIM:181405] -synonym: "SPSMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:181405, Orphanet:431255] +synonym: "amyotrophy, neurogenic scapuloperoneal, New England type" RELATED [] +synonym: "neurogenic scapuloperoneal amyotrophy, New England type" EXACT [DOID:0111552, Orphanet:431255] +synonym: "scapuloperoneal neuronopathy" EXACT [DOID:0111552, Orphanet:431255] +synonym: "scapuloperoneal spinal muscular atrophy" EXACT [DOID:0111552, MONDO:Lexical, OMIM:181405, Orphanet:431255] +synonym: "SPSMA" EXACT ABBREVIATION [DOID:0111552, MONDO:Lexical, OMIM:181405, Orphanet:431255] xref: DOID:0111552 {source="MONDO:equivalentTo"} xref: EFO:1001992 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10314 {source="MONDO:GARD"} @@ -174818,19 +174841,19 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:636965"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant myosin storage myopathy" EXACT [Orphanet:636965] -synonym: "MSMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608358] -synonym: "MYH7-related late-onset scapuloperoneal muscular dystrophy" EXACT DEPRECATED [Orphanet:437572] -synonym: "MYH7-related late-onset scapuloperoneal syndrome" EXACT DEPRECATED [Orphanet:437572] -synonym: "MYH7-related late-onset SPMD" EXACT DEPRECATED [Orphanet:437572] +synonym: "MSMA" EXACT ABBREVIATION [DOID:0111269, MONDO:Lexical, Orphanet:636965] +synonym: "MYH7-related late-onset scapuloperoneal muscular dystrophy" EXACT DEPRECATED [] +synonym: "MYH7-related late-onset scapuloperoneal syndrome" EXACT DEPRECATED [] +synonym: "MYH7-related late-onset SPMD" EXACT DEPRECATED [] synonym: "MYH7-related scapuloperoneal myopathy" EXACT [GARD:0010313] synonym: "myopathy with lysis of type 1 myofibrils" EXACT [OMIM:608358] synonym: "myopathy, hyaline body, autosomal dominant" EXACT [OMIM:608358] -synonym: "myopathy, myosin storage, autosomal dominant" EXACT [MONDO:Lexical, OMIM:608358] -synonym: "scapuloperoneal muscular dystrophy" EXACT [OMIM:181430] -synonym: "scapuloperoneal myopathy, MYH7-related" EXACT [MONDO:Lexical, OMIM:181430] -synonym: "scapuloperoneal syndrome, myopathic type" EXACT [OMIM:181430] +synonym: "myopathy, myosin storage, autosomal dominant" EXACT [DOID:0111269, MONDO:Lexical, OMIM:608358] +synonym: "scapuloperoneal muscular dystrophy" EXACT [OMIM:608358] +synonym: "scapuloperoneal myopathy, MYH7-related" EXACT [MONDO:Lexical, OMIM:608358] +synonym: "scapuloperoneal syndrome, myopathic type" EXACT [OMIM:608358] synonym: "SPMD" EXACT ABBREVIATION [GARD:0010313] -synonym: "SPMM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:181430] +synonym: "SPMM" EXACT ABBREVIATION [MONDO:Lexical] xref: DOID:0111269 {source="MONDO:equivalentTo"} xref: GARD:15429 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:437572/attributed", source="Orphanet:437572/ntbt", source="Orphanet:437572"} @@ -174862,20 +174885,20 @@ subset: ordo_malformation_syndrome {source="Orphanet:3135"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Calve's disease" EXACT [NCIT:C34999] -synonym: "familial Scheuermann disease" RELATED [Orphanet:3135] -synonym: "familial Scheuermann juvenile kyphosis" EXACT [Orphanet:3135] -synonym: "familial spinal osteochondrosis" EXACT [Orphanet:3135] +synonym: "familial Scheuermann disease" RELATED [] +synonym: "familial Scheuermann juvenile kyphosis" EXACT [] +synonym: "familial spinal osteochondrosis" EXACT [] synonym: "juvenile kyphosis" RELATED [GARD:0007610] synonym: "juvenile osteochondritis of the spine" EXACT [DOID:13300] synonym: "juvenile osteochondrosis of Scheurermann" EXACT [DOID:13300] -synonym: "juvenile osteochondrosis of spine" EXACT [DOID:13300, ICD9CM:732.0] -synonym: "Scheuermann disease" EXACT [DOID:13300, OMIM:181440] -synonym: "Scheuermann juvenile kyphosis" RELATED [OMIM:181440] +synonym: "juvenile osteochondrosis of spine" EXACT [DOID:13300, ICD9CM:732.0, NCIT:C34999] +synonym: "Scheuermann disease" EXACT [OMIM:181440] +synonym: "Scheuermann juvenile kyphosis" RELATED [] synonym: "Scheuermann kyphosis" RELATED [GARD:0007610] -synonym: "Scheuermann's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Scheuermann's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:13300, MONDO:LexicalVariant, NCIT:C34999] synonym: "Scheuermann's kyphosis" EXACT [DOID:13300] synonym: "Sherman's disease" EXACT [DOID:13300] -synonym: "spinal Osteochondrosis" RELATED [OMIM:181440] +synonym: "spinal Osteochondrosis" RELATED [] xref: DOID:13300 {source="MONDO:equivalentTo"} xref: ICD10CM:M42.0 {source="Orphanet:3135/attributed", source="Orphanet:3135/ntbt", source="Orphanet:3135", source="DOID:13300"} xref: ICD10CM:M42.00 {source="DOID:13300"} @@ -174908,12 +174931,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:3138"} subset: orphanet_rare {source="Orphanet:3138"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Pallister ulnar-mammary syndrome" EXACT [DOID:0060614, Orphanet:3138] -synonym: "Schinzel Syndrome" EXACT [NORD:1695] -synonym: "Schinzel syndrome" EXACT [DOID:0060614, OMIM:181450, Orphanet:3138] -synonym: "ulnar-mammary syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:181450] +synonym: "Pallister ulnar-mammary syndrome" EXACT [DOID:0060614, OMIM:181450, Orphanet:3138] +synonym: "Schinzel Syndrome" EXACT [DOID:0060614, icd11.foundation:1508836700, NORD:1695, OMIM:181450, Orphanet:3138] +synonym: "Schinzel syndrome" EXACT [DOID:0060614, icd11.foundation:1508836700, OMIM:181450, Orphanet:3138] +synonym: "ulnar-mammary syndrome" EXACT CLINGEN_LABEL [DOID:0060614, icd11.foundation:1508836700, MONDO:Lexical, OMIM:181450, Orphanet:3138] synonym: "ulnar-mammary syndrome of Pallister" RELATED [GARD:0000118] -synonym: "ums" EXACT [MONDO:Lexical, OMIM:181450, Orphanet:3138] +synonym: "UMS" EXACT ABBREVIATION [OMIM:181450, Orphanet:3138] +synonym: "ums" EXACT [MONDO:Lexical] xref: DOID:0060614 {source="MONDO:equivalentTo"} xref: GARD:118 {source="MONDO:GARD"} xref: ICD10CM:Q71.8 {source="Orphanet:3138/attributed", source="Orphanet:3138/ntbt", source="Orphanet:3138", source="DOID:0060614"} @@ -174942,10 +174966,10 @@ def: "An intestinal infection that is caused by Schistosoma japonicum." [NCIT:C3 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Katayama fever" EXACT [DOID:0050597] -synonym: "Schistosoma japonicum infection" RELATED EXCLUDE [DOID:0050597] -synonym: "Schistosoma mansoni infection, susceptibility/resistance to" RELATED [OMIM:181460] -synonym: "Schistosoma mansoni infectious disease" RELATED EXCLUDE [DOID:0050597] -synonym: "Schistosoma mansoni, intensity of infection by" RELATED [OMIM:181460] +synonym: "Schistosoma japonicum infection" RELATED EXCLUDE [] +synonym: "Schistosoma mansoni infection, susceptibility/resistance to" RELATED [] +synonym: "Schistosoma mansoni infectious disease" RELATED EXCLUDE [] +synonym: "Schistosoma mansoni, intensity of infection by" RELATED [] synonym: "schistosomiasis japonica" EXACT [DOID:0050597] xref: DOID:0050597 {source="MONDO:equivalentTo"} xref: ICD10CM:B65.1 {source="DOID:0050597"} @@ -174983,9 +175007,9 @@ replaced_by: MONDO:0005090 id: MONDO:0008414 name: schizophrenia 1 def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35." [DOID:0070077] -synonym: "schizophrenia 1" EXACT [MONDO:Lexical, OMIM:181510] -synonym: "schizophrenia 1 with or without an affective disorder" RELATED [OMIM:181510] -synonym: "schizophrenia susceptibility locus, chromosome 5-related" RELATED [OMIM:181510] +synonym: "schizophrenia 1" EXACT [DOID:0070077, MONDO:Lexical, OMIM:181510] +synonym: "schizophrenia 1 with or without an affective disorder" RELATED [] +synonym: "schizophrenia susceptibility locus, chromosome 5-related" RELATED [] synonym: "SCZD1" EXACT ABBREVIATION [DOID:0070077, MONDO:Lexical, OMIM:181510] xref: DOID:0070077 {source="MONDO:equivalentTo"} xref: MEDGEN:65084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -175011,15 +175035,15 @@ subset: orphanet_rare {source="Orphanet:384"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles" RELATED [GARD:0008517] -synonym: "HRZ" RELATED ABBREVIATION [GARD:0008517, OMIM:181600] -synonym: "HURIEZ syndrome" RELATED [OMIM:181600] +synonym: "HRZ" RELATED ABBREVIATION [GARD:0008517] +synonym: "HURIEZ syndrome" RELATED [] synonym: "Huriez syndrome" EXACT [OMIM:181600, Orphanet:384] synonym: "palmoplantar hyperkeratosis-sclerodactyly syndrome" EXACT [Orphanet:384] -synonym: "Scleroatrophic and keratotic dermatosis of limbs" RELATED [OMIM:181600] +synonym: "Scleroatrophic and keratotic dermatosis of limbs" RELATED [] synonym: "Scleroatrophic syndrome" EXACT [Orphanet:384] -synonym: "SCLEROTYLOSIS" RELATED ABBREVIATION [OMIM:181600] -synonym: "Sclerotylosis" EXACT [Orphanet:384] -synonym: "Tys" RELATED [OMIM:181600] +synonym: "SCLEROTYLOSIS" RELATED ABBREVIATION [] +synonym: "Sclerotylosis" EXACT [OMIM:181600, Orphanet:384] +synonym: "Tys" RELATED [] xref: GARD:8517 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:384", source="Orphanet:384/attributed", source="Orphanet:384/ntbt"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -175051,9 +175075,9 @@ id: MONDO:0008418 name: scleroderma, familial progressive subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Crest syndrome" RELATED [OMIM:181750] +synonym: "Crest syndrome" RELATED [] synonym: "scleroderma, familial progressive" EXACT [OMIM:181750] -synonym: "systemic sclerosis, susceptibility to" RELATED [OMIM:181750] +synonym: "systemic sclerosis, susceptibility to" RELATED [] xref: MEDGEN:356661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:181750 {source="MONDO:equivalentTo"} xref: Orphanet:90290 {source="MONDO:directSiblingOf", source="OMIM:181750"} @@ -175065,10 +175089,10 @@ is_a: MONDO:0005100 {source="OMIM:181750", source="Orphanet:90291/btnt"} ! syste id: MONDO:0008419 name: scoliosis, isolated, susceptibility to, 1 subset: predisposition -synonym: "adolescent idiopathic scoliosis" RELATED [OMIM:181800] -synonym: "adolescent isolated scoliosis" RELATED [OMIM:181800] +synonym: "adolescent idiopathic scoliosis" RELATED [] +synonym: "adolescent isolated scoliosis" RELATED [] synonym: "IS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:181800] -synonym: "scoliosis, idiopathic 1" EXACT [OMIM:181800, OMIM:genemap2] +synonym: "scoliosis, idiopathic 1" EXACT [] synonym: "scoliosis, isolated, susceptibility to, 1" EXACT [OMIM:181800] xref: MEDGEN:438003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:181800 {source="MONDO:equivalentTo"} @@ -175082,10 +175106,10 @@ id: MONDO:0008420 name: seborrheic keratosis def: "A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "basal cell papilloma" EXACT [NCIT:C9006] +synonym: "basal cell papilloma" EXACT [ICD10CM:L82, NCIT:C9006] synonym: "keratosis Seborrheica" EXACT [NCIT:C9006] -synonym: "keratosis, seborrheic" RELATED [OMIM:182000] -synonym: "keratosis, seborrheic, somatic" EXACT [OMIM:182000, OMIM:genemap2] +synonym: "keratosis, seborrheic" RELATED [] +synonym: "keratosis, seborrheic, somatic" EXACT [] xref: DOID:6498 {source="MONDO:equivalentTo", source="EFO:0005584"} xref: EFO:0005584 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:L82 {source="DOID:6498", source="MONDO:equivalentTo"} @@ -175122,7 +175146,7 @@ subset: orphanet_rare {source="Orphanet:1968"} subset: rare synonym: "blepharophimosis-telecanthus-microstomia syndrome" EXACT [Orphanet:1968] synonym: "Simosa cranio facial syndrome" RELATED [GARD:0004873] -synonym: "SIMOSA craniofacial syndrome" RELATED [OMIM:182150] +synonym: "SIMOSA craniofacial syndrome" RELATED [] synonym: "Simosa-Penchaszadeh-Bustos syndrome" EXACT [Orphanet:1968] xref: GARD:4873 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:1968/attributed", source="Orphanet:1968/ntbt", source="Orphanet:1968"} @@ -175141,9 +175165,9 @@ def: "Autosomal dominant form of sideroblastic anemia." [MONDO:patterns/autosoma subset: gard_rare {source="GARD:18380", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anemia, sideroblastic, 4" RELATED [OMIM:182170] -synonym: "anemia, sideroblastic, autosomal dominant" RELATED [OMIM:182170] -synonym: "SIDBA4" RELATED ABBREVIATION [OMIM:182170] +synonym: "anemia, sideroblastic, 4" RELATED [] +synonym: "anemia, sideroblastic, autosomal dominant" RELATED [] +synonym: "SIDBA4" RELATED ABBREVIATION [] synonym: "sideroblastic anemia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:0060335 {source="MONDO:equivalentTo"} xref: GARD:18380 {source="MONDO:GARD"} @@ -175163,9 +175187,9 @@ id: MONDO:0008423 name: sinus node disease and myopia subset: gard_rare {source="GARD:4880", source="MONDO:GARD"} subset: rare -synonym: "sick sinus syndrome and myopia" RELATED [OMIM:182190] +synonym: "sick sinus syndrome and myopia" RELATED [] synonym: "sinus node disease and myopia" EXACT [OMIM:182190] -synonym: "Sss-myopia syndrome" RELATED [OMIM:182190] +synonym: "Sss-myopia syndrome" RELATED [] xref: GARD:4880 {source="MONDO:GARD"} xref: MEDGEN:401121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566690 {source="MONDO:equivalentTo"} @@ -175197,10 +175221,10 @@ subset: orphanet_rare {source="Orphanet:3164"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "laryngeal and pharyngeal hypoplasia with omphalocele" RELATED [GARD:0009850] -synonym: "omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis" RELATED [OMIM:182210] +synonym: "omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis" RELATED [] synonym: "omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies" RELATED [GARD:0009850] -synonym: "pharynx and larynx hypoplasia with omphalocele" RELATED [OMIM:182210] -synonym: "Shprintzen omphalocele syndrome" RELATED [OMIM:182210] +synonym: "pharynx and larynx hypoplasia with omphalocele" RELATED [] +synonym: "Shprintzen omphalocele syndrome" RELATED [] synonym: "Shprintzen-Goldberg omphalocele syndrome" RELATED [GARD:0009850] xref: GARD:9850 {source="MONDO:GARD"} xref: ICD10CM:Q79.2 {source="Orphanet:3164/attributed", source="Orphanet:3164/ntbt", source="Orphanet:3164"} @@ -175226,16 +175250,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:2462"} subset: orphanet_rare {source="Orphanet:2462"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "craniosynostosis with arachnodactyly and abdominal hernias" RELATED [OMIM:182212] +synonym: "craniosynostosis with arachnodactyly and abdominal hernias" RELATED [] synonym: "Marfanoid craniosynostosis syndrome" EXACT [OMIM:182212, Orphanet:2462] synonym: "Marfanoid disorder with craniosynostosis type 1" RELATED [GARD:0004861] -synonym: "Marfanoid disorder with craniosynostosis, type 1" RELATED [OMIM:182212] +synonym: "Marfanoid disorder with craniosynostosis, type 1" RELATED [] synonym: "Marfanoid-craniosynostosis syndrome" RELATED [GARD:0004861] synonym: "SGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:182212, Orphanet:2462] synonym: "Shprintzen Goldberg Syndrome" EXACT [NORD:1908] -synonym: "Shprintzen-Goldberg craniosynostosis syndrome" RELATED [MONDO:Lexical, OMIM:182212] +synonym: "Shprintzen-Goldberg craniosynostosis syndrome" RELATED [MONDO:Lexical] synonym: "Shprintzen-Goldberg marfanoid syndrome" RELATED [GARD:0004861] -synonym: "Shprintzen-Goldberg syndrome" EXACT CLINGEN_LABEL [] +synonym: "Shprintzen-Goldberg syndrome" EXACT CLINGEN_LABEL [Orphanet:2462] xref: GARD:4861 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2462", source="Orphanet:2462/attributed", source="Orphanet:2462/ntbt"} xref: MEDGEN:231160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -175262,7 +175286,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008427 name: sister chromatid exchange, frequency of -synonym: "SCE, frequency of" RELATED [OMIM:182220] +synonym: "SCE, frequency of" RELATED [] synonym: "sister chromatid exchange, frequency of" EXACT [OMIM:182220] xref: MEDGEN:357877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:182220 {source="MONDO:equivalentTo"} @@ -175280,15 +175304,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:3157"} subset: orphanet_rare {source="Orphanet:3157"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "De Morsier syndrome" EXACT [DOID:0060857, OMIM:182230, Orphanet:3157] -synonym: "Growth hormone deficiency with pituitary anomalies" RELATED [OMIM:182230] +synonym: "De Morsier syndrome" EXACT [DOID:0060857, NCIT:C85063, Orphanet:3157] +synonym: "Growth hormone deficiency with pituitary anomalies" RELATED [] synonym: "hypopituitarism and septooptic 'dysplasia'" RELATED [GARD:0007627] -synonym: "pituitary hormone deficiency, combined, 5" RELATED [OMIM:182230] -synonym: "septo-optic dysplasia" EXACT [DOID:0060857, Orphanet:3157] +synonym: "pituitary hormone deficiency, combined, 5" RELATED [] +synonym: "septo-optic dysplasia" EXACT [DOID:0060857, NCIT:C85063, Orphanet:3157] synonym: "septo-optic dysplasia sequence" EXACT [NCIT:C85063] -synonym: "septo-optic dysplasia spectrum" RELATED [Orphanet:3157] +synonym: "septo-optic dysplasia spectrum" RELATED [] synonym: "septo-optic dysplasia with growth hormone deficiency" RELATED [GARD:0007627] -synonym: "septooptic dysplasia" EXACT [OMIM:182230] +synonym: "septooptic dysplasia" EXACT [DOID:0060857, OMIM:182230] synonym: "SOD" EXACT ABBREVIATION [DOID:0060857, Orphanet:3157] xref: DOID:0060857 {source="MONDO:equivalentTo"} xref: GARD:7627 {source="MONDO:GARD"} @@ -175329,10 +175353,10 @@ subset: orphanet_rare {source="Orphanet:85191"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Merten-Singleton syndrome" EXACT [GARD:0000122] -synonym: "SGMRT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182250] +synonym: "SGMRT1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Singleton Merten syndrome" EXACT [NORD:1718] synonym: "singleton Merten syndrome" EXACT [GARD:0000122] -synonym: "Singleton-Merten syndrome" EXACT [Orphanet:85191] +synonym: "Singleton-Merten syndrome" EXACT [OMIMPS:182250, Orphanet:85191] synonym: "SM syndrome" RELATED [GARD:0000122] synonym: "syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition" RELATED [GARD:0000122] synonym: "widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness" RELATED [GARD:0000122] @@ -175378,7 +175402,7 @@ replaced_by: MONDO:0018382 id: MONDO:0008432 name: obsolete ketone compounds, ability to smell comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "ketone compounds, ability to smell" EXACT [OMIM:182270] +synonym: "ketone compounds, ability to smell" EXACT [] xref: OMIM:182270 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -175394,26 +175418,26 @@ subset: ordo_disorder {source="Orphanet:70573"} subset: orphanet_rare {source="Orphanet:70573"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lung oat cell carcinoma" EXACT [NCIT:C4917] -synonym: "lung small cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "lung oat cell carcinoma" EXACT [DOID:5411, NCIT:C4917] +synonym: "lung small cell carcinoma" EXACT [DOID:5409, MONDO:patterns/location, NCIT:C4917] synonym: "lung small cell neuroendocrine carcinoma" EXACT [NCIT:C4917] -synonym: "oat cell carcinoma" BROAD [DOID:5411] -synonym: "oat cell carcinoma (morphologic abnormality)" BROAD [DOID:5411] +synonym: "oat cell carcinoma" BROAD [] +synonym: "oat cell carcinoma (morphologic abnormality)" BROAD [] synonym: "oat cell carcinoma of lung" EXACT [NCIT:C4917] synonym: "oat cell carcinoma of the lung" EXACT [NCIT:C4917] synonym: "oat cell lung carcinoma" EXACT [NCIT:C4917] -synonym: "poorly differentiated endocrine neoplasm" BROAD [DOID:5411, NCIT:C3915] -synonym: "SCLC" BROAD ABBREVIATION [DOID:5409, NCIT:C4917, OMIM:182280, Orphanet:70573] -synonym: "SCLC1" RELATED ABBREVIATION [OMIM:182280] -synonym: "small cell cancer of the lung" RELATED [OMIM:182280] -synonym: "small cell cancer of the lung, somatic" EXACT [OMIM:182280, OMIM:genemap2] -synonym: "small cell carcinoma of lung" EXACT [DOID:5409, NCIT:C4917] +synonym: "poorly differentiated endocrine neoplasm" BROAD [] +synonym: "SCLC" BROAD ABBREVIATION [] +synonym: "SCLC1" RELATED ABBREVIATION [] +synonym: "small cell cancer of the lung" RELATED [] +synonym: "small cell cancer of the lung, somatic" EXACT [] +synonym: "small cell carcinoma of lung" EXACT [NCIT:C4917] synonym: "small cell carcinoma of the lung" EXACT [NCIT:C4917] -synonym: "Small cell lung cancer" EXACT [] -synonym: "small cell lung cancer" EXACT [NCIT:C4917] -synonym: "small cell neuroendocrine carcinoma of lung" EXACT [DOID:5409, NCIT:C4917] +synonym: "Small cell lung cancer" EXACT [NCIT:C4917, Orphanet:70573] +synonym: "small cell lung cancer" EXACT [NCIT:C4917, Orphanet:70573] +synonym: "small cell neuroendocrine carcinoma of lung" EXACT [NCIT:C4917] synonym: "small cell neuroendocrine carcinoma of the lung" EXACT [NCIT:C4917] -synonym: "small-cell cancer of lung" EXACT [OMIM:182280, OMIM:genemap2] +synonym: "small-cell cancer of lung" EXACT [] xref: DOID:5409 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0000702"} xref: DOID:5411 {source="MONDO:equivalentTo"} xref: EFO:0000702 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -175455,14 +175479,14 @@ subset: orphanet_rare {source="Orphanet:819"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "17p11.2 microdeletion syndrome" EXACT [DOID:0060768, Orphanet:819] -synonym: "chromosome 17P11.2 deletion syndrome" EXACT [OMIM:182290] -synonym: "chromosome 17p11.2 deletion syndrome" EXACT [DOID:0060768] +synonym: "chromosome 17P11.2 deletion syndrome" EXACT [DOID:0060768, NCIT:C75469, OMIM:182290] +synonym: "chromosome 17p11.2 deletion syndrome" EXACT [DOID:0060768, NCIT:C75469, OMIM:182290] synonym: "Smith Magenis Syndrome" EXACT [NORD:1725] -synonym: "Smith-Magenis chromosome region" RELATED [OMIM:182290] -synonym: "SMITH-Magenis syndrome" EXACT [OMIM:182290] -synonym: "Smith-Magenis syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:182290] -synonym: "Smith-Magenis syndrome chromosome region" RELATED [OMIM:182290] -synonym: "Smith-Magenis syndrome, Isolated cases" EXACT [OMIM:182290, OMIM:genemap2] +synonym: "Smith-Magenis chromosome region" RELATED [] +synonym: "SMITH-Magenis syndrome" EXACT [DOID:0060768, icd11.foundation:989025532, NCIT:C75469, OMIM:182290, Orphanet:819] +synonym: "Smith-Magenis syndrome" EXACT CLINGEN_LABEL [DOID:0060768, icd11.foundation:989025532, MONDO:Lexical, NCIT:C75469, OMIM:182290, Orphanet:819] +synonym: "Smith-Magenis syndrome chromosome region" RELATED [] +synonym: "Smith-Magenis syndrome, Isolated cases" EXACT [] synonym: "SMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:182290] xref: DECIPHER:8 {source="MONDO:equivalentTo"} xref: DOID:0060768 {source="MONDO:equivalentTo"} @@ -175516,9 +175540,9 @@ synonym: "Ehrmann-Sneddon syndrome" EXACT [Orphanet:820] synonym: "idiopathic livedo reticularis with systemic involvement" EXACT [DOID:13096] synonym: "livedo racemosa and cerebrovascular accidents" RELATED [GARD:0007664] synonym: "livedo racemosa-cerebrovascular accident syndrome" EXACT [Orphanet:820] -synonym: "livedo reticularis and cerebrovascular accidents" RELATED [OMIM:182410] +synonym: "livedo reticularis and cerebrovascular accidents" RELATED [] synonym: "livedo reticularis-cerebrovascular accident syndrome" EXACT [Orphanet:820] -synonym: "Sneddon syndrome" EXACT [OMIM:182410] +synonym: "Sneddon syndrome" EXACT [DOID:13096, icd11.foundation:1474816492, OMIM:182410, Orphanet:820] synonym: "Sneddon's syndrome" RELATED [GARD:0007664] xref: DOID:13096 {source="EFO:1001186", source="MONDO:equivalentTo"} xref: EFO:1001186 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -175554,19 +175578,19 @@ subset: rare synonym: "ATL1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant familial spastic paraplegia 1" EXACT [DOID:0110791] synonym: "autosomal dominant spastic paraplegia 3" EXACT [DOID:0110791] -synonym: "autosomal dominant spastic paraplegia type 3" EXACT [DOID:0110791] -synonym: "familial spastic paraplegia, autosomal dominant, 1" RELATED [OMIM:182600] +synonym: "autosomal dominant spastic paraplegia type 3" EXACT [DOID:0110791, Orphanet:100984] +synonym: "familial spastic paraplegia, autosomal dominant, 1" RELATED [] synonym: "FSP1" EXACT ABBREVIATION [DOID:0110791] synonym: "hereditary spastic paraplegia caused by mutation in ATL1" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 3A" EXACT [DOID:0110791, MONDORULE:4] +synonym: "hereditary spastic paraplegia type 3A" EXACT [MONDORULE:4] synonym: "spastic paraplegia 3" RELATED [GARD:0005041] -synonym: "spastic paraplegia 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:182600] +synonym: "spastic paraplegia 3, autosomal dominant" RELATED [MONDO:Lexical] synonym: "spastic Paraplegia 3A" EXACT [NCIT:C142893] -synonym: "spastic paraplegia 3a, autosomal dominant" EXACT [OMIM:182600, OMIM:genemap2] -synonym: "Spg3" RELATED [OMIM:182600] -synonym: "SPG3A" EXACT ABBREVIATION [DOID:0110791, MONDO:Lexical, OMIM:182600] -synonym: "Strumpell disease" RELATED [OMIM:182600] -synonym: "strumpell disease" EXACT [DOID:0110791] +synonym: "spastic paraplegia 3a, autosomal dominant" EXACT [] +synonym: "Spg3" RELATED [] +synonym: "SPG3A" EXACT ABBREVIATION [DOID:0110791, MONDO:Lexical, OMIM:182600, Orphanet:100984] +synonym: "Strumpell disease" RELATED [] +synonym: "strumpell disease" EXACT [DOID:0110791, NCIT:C142893, OMIM:182600] synonym: "Strümpell disease" EXACT [Orphanet:100984] xref: DOID:0110791 {source="MONDO:equivalentTo"} xref: GARD:5041 {source="MONDO:GARD"} @@ -175594,16 +175618,16 @@ subset: orphanet_rare {source="Orphanet:100985"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 4" EXACT [DOID:0110792] -synonym: "autosomal dominant spastic paraplegia type 4" EXACT [DOID:0110792] +synonym: "autosomal dominant spastic paraplegia type 4" EXACT [DOID:0110792, Orphanet:100985] synonym: "familial spastic paraplegia autosomal dominant 2" RELATED [GARD:0004925] -synonym: "familial spastic paraplegia, autosomal dominant, 2" RELATED [OMIM:182601] +synonym: "familial spastic paraplegia, autosomal dominant, 2" RELATED [] synonym: "FSP2" RELATED ABBREVIATION [GARD:0004925] -synonym: "hereditary spastic paraplegia 4" EXACT CLINGEN_LABEL [] +synonym: "hereditary spastic paraplegia 4" EXACT CLINGEN_LABEL [DOID:0110792] synonym: "hereditary spastic paraplegia caused by mutation in SPAST" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 4" EXACT [DOID:0110792, MONDORULE:1] +synonym: "hereditary spastic paraplegia type 4" EXACT [MONDORULE:1] synonym: "SPAST hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 4" RELATED [GARD:0004925] -synonym: "spastic paraplegia 4, autosomal dominant" RELATED [MONDO:Lexical, OMIM:182601] +synonym: "spastic paraplegia 4, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG4" EXACT ABBREVIATION [DOID:0110792, MONDO:Lexical, OMIM:182601, Orphanet:100985] xref: DOID:0110792 {source="MONDO:equivalentTo"} xref: GARD:4925 {source="MONDO:GARD"} @@ -175631,9 +175655,9 @@ subset: gard_rare {source="GARD:4915", source="MONDO:GARD"} subset: rare synonym: "spastic paraplegia epilepsy intellectual disability" RELATED [GARD:0004915] synonym: "spastic paraplegia epilepsy mental retardation" RELATED DEPRECATED [GARD:0004915] -synonym: "spastic paraplegia, epilepsy, and intellectual disability" RELATED [MONDO:Lexical, OMIM:182610] -synonym: "spastic paraplegia, epilepsy, and mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:182610] -synonym: "SPEMR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:182610, Orphanet:2816] +synonym: "spastic paraplegia, epilepsy, and intellectual disability" RELATED [MONDO:Lexical] +synonym: "spastic paraplegia, epilepsy, and mental retardation" RELATED DEPRECATED [MONDO:Lexical] +synonym: "SPEMR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:182610] synonym: "spemr" RELATED [GARD:0004915] xref: GARD:4915 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="Orphanet:2816/attributed", source="Orphanet:2816/ntbt", source="Orphanet:2816"} @@ -175660,8 +175684,8 @@ synonym: "Fitzsimmons Walson Mellor syndrome" RELATED [GARD:0002342] synonym: "Fitzsimmons-Walson-Mellor syndrome" EXACT [Orphanet:2820] synonym: "spastic paraplegia - nephritis - deafness" RELATED [GARD:0002342] synonym: "spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy" RELATED [GARD:0002342] -synonym: "spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy" RELATED [OMIM:182690] -synonym: "spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy" RELATED DEPRECATED [OMIM:182690] +synonym: "spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy" RELATED [] +synonym: "spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy" RELATED DEPRECATED [] xref: GARD:2342 {source="MONDO:GARD"} xref: MEDGEN:355816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537937 {source="MONDO:equivalentTo"} @@ -175695,7 +175719,7 @@ subset: rare synonym: "Antinolo-Nieto-Borrego syndrome" EXACT [Orphanet:2821] synonym: "familial spastic paraplegia with neuropathy and poikiloderma" RELATED [GARD:0004921] synonym: "spastic paraplegia neuropathy poikiloderma" RELATED [GARD:0004921] -synonym: "spastic paraplegia with neuropathy and poikiloderma" RELATED [OMIM:182815] +synonym: "spastic paraplegia with neuropathy and poikiloderma" RELATED [] xref: GARD:4921 {source="MONDO:GARD"} xref: MEDGEN:355814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536870 {source="MONDO:equivalentTo", source="Orphanet:2821", source="Orphanet:2821/e"} @@ -175715,8 +175739,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial spastic paraplegia, intellectual disability, and precocious puberty" RELATED [GARD:0004918] synonym: "familial spastic paraplegia, mental retardation, and precocious puberty" RELATED DEPRECATED [GARD:0004918] -synonym: "precocious puberty with spastic paraplegia" RELATED [OMIM:182820] -synonym: "spastic paraplegia with precocious puberty" RELATED [OMIM:182820] +synonym: "precocious puberty with spastic paraplegia" RELATED [] +synonym: "spastic paraplegia with precocious puberty" RELATED [] xref: GARD:4918 {source="MONDO:GARD"} xref: MEDGEN:401096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536874 {source="Orphanet:2826/e", source="MONDO:equivalentTo", source="Orphanet:2826"} @@ -175748,7 +175772,7 @@ subset: orphanet_rare {source="Orphanet:3038"} subset: rare synonym: "delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases" RELATED [GARD:0003449] synonym: "Mehes syndrome" EXACT [Orphanet:3038] -synonym: "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE" RELATED [OMIM:182875] +synonym: "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE" RELATED [] xref: GARD:3449 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:3038/attributed", source="Orphanet:3038/ntbt", source="Orphanet:3038"} xref: MEDGEN:355803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -175763,7 +175787,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008446 name: sperm protamine P4 -synonym: "PRM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182882] +synonym: "PRM4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "sperm protamine P4" EXACT [MONDO:Lexical, OMIM:182882] xref: MEDGEN:355802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:182882 {source="MONDO:equivalentTo"} @@ -175781,10 +175805,10 @@ synonym: "ANK1 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patt synonym: "hereditary spherocytosis 1" EXACT [DOID:0110916] synonym: "hereditary spherocytosis caused by mutation in ANK1" EXACT [MONDO:design_pattern] synonym: "HS1" EXACT ABBREVIATION [DOID:0110916] -synonym: "Sph" RELATED [OMIM:182900] +synonym: "Sph" RELATED [] synonym: "SPH1" EXACT ABBREVIATION [DOID:0110916, MONDO:Lexical, OMIM:182900] -synonym: "spherocytosis, hereditary, 1" RELATED [OMIM:182900] -synonym: "spherocytosis, type 1" RELATED [MONDO:Lexical, OMIM:182900] +synonym: "spherocytosis, hereditary, 1" RELATED [] +synonym: "spherocytosis, type 1" RELATED [MONDO:Lexical] xref: DOID:0110916 {source="MONDO:equivalentTo"} xref: MEDGEN:382302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:182900 {source="MONDO:equivalentTo", source="DOID:0110916"} @@ -175808,10 +175832,10 @@ id: MONDO:0008449 name: spina bifida def: "A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae." [NCIT:C101214] subset: otar {source="MONDO:OTAR"} -synonym: "neural tube defects, susceptibility to" RELATED [MONDO:Lexical, OMIM:182940] -synonym: "NTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182940] -synonym: "rachischisis" EXACT [NCIT:C101214] -synonym: "spina bifida" EXACT [MONDO:ambiguous, OMIM:182940] +synonym: "neural tube defects, susceptibility to" RELATED [MONDO:Lexical] +synonym: "NTD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "rachischisis" EXACT [icd11.foundation:2036217905, NCIT:C101214] +synonym: "spina bifida" EXACT [DOID:0080016, icd11.foundation:2036217905, MONDO:ambiguous, NCIT:C101214] synonym: "spina bifida (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "spinal meningocele" EXACT [NCIT:C101214] synonym: "spinal myelocele" EXACT [NCIT:C101214] @@ -175841,8 +175865,8 @@ name: spinal arachnoiditis def: "A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor." [NCIT:C50749] subset: gard_rare {source="GARD:15113", source="MONDO:GARD"} subset: rare -synonym: "arachnoiditis, spinal" EXACT [NCIT:C50749] -synonym: "spinal arachnoiditis" EXACT [OMIM:182950] +synonym: "arachnoiditis, spinal" EXACT [] +synonym: "spinal arachnoiditis" EXACT [icd11.foundation:1074591848, NCIT:C50749, OMIM:182950] xref: GARD:15113 {source="MONDO:GARD"} xref: icd11.foundation:1074591848 {source="MONDO:equivalentTo"} xref: MEDGEN:318191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -175864,17 +175888,18 @@ subset: ordo_disorder {source="Orphanet:139518"} subset: orphanet_rare {source="Orphanet:139518"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant distal juvenile spinal muscular atrophy type 1" EXACT [Orphanet:139518] -synonym: "Charcot-Marie-Tooth disease, spinal, 1" RELATED [OMIM:182960] +synonym: "autosomal dominant distal juvenile spinal muscular atrophy type 1" EXACT [DOID:0111200, Orphanet:139518] +synonym: "Charcot-Marie-Tooth disease, spinal, 1" RELATED [] synonym: "Charcot-Marie-Tooth disease, spinal, I" EXACT [NCIT:C132826] -synonym: "dHMN1" EXACT [Orphanet:139518] +synonym: "DHMN1" EXACT ABBREVIATION [NCIT:C132826] +synonym: "dHMN1" EXACT ABBREVIATION [DOID:0111200, Orphanet:139518] synonym: "distal hereditary motor neuronopathy type I" EXACT [NCIT:C132826] -synonym: "HMN 1" RELATED [OMIM:182960] -synonym: "HMN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182960] -synonym: "neuronopathy, distal hereditary motor, type 1" EXACT [OMIM:182960] -synonym: "neuronopathy, distal hereditary motor, type I" RELATED [MONDO:Lexical, OMIM:182960] -synonym: "neuropathy, distal hereditary motor, type 1" RELATED [OMIM:182960] -synonym: "spinal muscular atrophy, distal, juvenile, autosomal dominant, 1" RELATED [OMIM:182960] +synonym: "HMN 1" RELATED [] +synonym: "HMN1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "neuronopathy, distal hereditary motor, type 1" EXACT [] +synonym: "neuronopathy, distal hereditary motor, type I" RELATED [MONDO:Lexical] +synonym: "neuropathy, distal hereditary motor, type 1" RELATED [] +synonym: "spinal muscular atrophy, distal, juvenile, autosomal dominant, 1" RELATED [] xref: DOID:0111200 {source="MONDO:equivalentTo"} xref: GARD:16953 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:139518", source="Orphanet:139518/attributed", source="Orphanet:139518/ntbt"} @@ -175894,7 +175919,7 @@ name: spinal muscular atrophy, facioscapulohumeral type subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fshsma" RELATED [OMIM:182970] +synonym: "Fshsma" RELATED [] synonym: "spinal muscular atrophy, facioscapulohumeral type" EXACT [OMIM:182970] xref: MEDGEN:357136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566674 {source="MONDO:equivalentTo"} @@ -175911,14 +175936,14 @@ subset: ordo_disorder {source="Orphanet:209335"} subset: orphanet_rare {source="Orphanet:209335"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant adult-onset proximal SMA" EXACT [Orphanet:209335] -synonym: "autosomal dominant adult-onset proximal spinal muscular atrophy" RELATED [Orphanet:209335] -synonym: "autosomal dominant late-onset spinal muscular atrophy, Finkel type" EXACT [Orphanet:209335] -synonym: "Finkel disease" EXACT [Orphanet:209335] -synonym: "Finkel late-adult type Sma" RELATED [OMIM:182980] -synonym: "SMAFK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:182980] -synonym: "spinal muscular atrophy, late-onset, FINKEL type" RELATED [MONDO:Lexical, OMIM:182980] -synonym: "spinal muscular atrophy, proximal, adult, autosomal dominant" RELATED [OMIM:182980] +synonym: "autosomal dominant adult-onset proximal SMA" EXACT [DOID:0111194, Orphanet:209335] +synonym: "autosomal dominant adult-onset proximal spinal muscular atrophy" RELATED [] +synonym: "autosomal dominant late-onset spinal muscular atrophy, Finkel type" EXACT [DOID:0111194, Orphanet:209335] +synonym: "Finkel disease" EXACT [DOID:0111194, Orphanet:209335] +synonym: "Finkel late-adult type Sma" RELATED [] +synonym: "SMAFK" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spinal muscular atrophy, late-onset, FINKEL type" RELATED [MONDO:Lexical] +synonym: "spinal muscular atrophy, proximal, adult, autosomal dominant" RELATED [] xref: DOID:0111194 {source="MONDO:equivalentTo"} xref: GARD:17102 {source="MONDO:GARD"} xref: ICD10CM:G12.1 {source="Orphanet:209335/attributed", source="Orphanet:209335/ntbt", source="Orphanet:209335"} @@ -175982,9 +176007,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] synonym: "CACNA1A autosomal dominant cerebellar ataxia type III" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SCA6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:183086, Orphanet:98758] -synonym: "spinocerebellar ataxia 6" RELATED [GARD:0010351, MONDO:Lexical, OMIM:183086] -synonym: "spinocerebellar ataxia type 6" EXACT [MONDORULE:1, OMIM:183086] +synonym: "SCA6" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C142838, OMIM:183086, Orphanet:98758] +synonym: "spinocerebellar ataxia 6" RELATED [GARD:0010351, MONDO:Lexical] +synonym: "spinocerebellar ataxia type 6" EXACT [DOID:0050956, icd11.foundation:1056119281, MONDORULE:1, NCIT:C142838, Orphanet:98758] xref: DOID:0050956 {source="MONDO:equivalentTo"} xref: GARD:10351 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:98758", source="Orphanet:98758/attributed", source="Orphanet:98758/ntbt"} @@ -176015,28 +176040,28 @@ subset: orphanet_rare {source="Orphanet:98756"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "ALS13" RELATED DEPRECATED [DOID:0060204, OMIM:183090] -synonym: "amyotrophic lateral sclerosis 13" RELATED DEPRECATED [DOID:0060204, OMIM:183090] -synonym: "amyotrophic lateral sclerosis type 13" RELATED [DOID:0060204] -synonym: "amyotrophic lateral sclerosis, susceptibility to, 13" RELATED [OMIM:183090] +synonym: "ALS13" RELATED DEPRECATED [] +synonym: "amyotrophic lateral sclerosis 13" RELATED DEPRECATED [] +synonym: "amyotrophic lateral sclerosis type 13" RELATED [] +synonym: "amyotrophic lateral sclerosis, susceptibility to, 13" RELATED [] synonym: "ATXN2 autosomal dominant cerebellar ataxia type I" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2" EXACT [MONDO:design_pattern] -synonym: "cerebellar Degeneration with slow eye movements" RELATED [OMIM:183090] -synonym: "olivopontocerebellar atrophy 2" RELATED [OMIM:183090] +synonym: "cerebellar Degeneration with slow eye movements" RELATED [] +synonym: "olivopontocerebellar atrophy 2" RELATED [] synonym: "olivopontocerebellar atrophy Holguin type" RELATED [GARD:0004072] -synonym: "olivopontocerebellar atrophy, Holguin type" RELATED [OMIM:183090] +synonym: "olivopontocerebellar atrophy, Holguin type" RELATED [] synonym: "OPCA2" EXACT ABBREVIATION [NCIT:C148315] synonym: "SCA 2" RELATED [GARD:0004072] -synonym: "SCA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:183090, Orphanet:98756] -synonym: "spinocerebellar ataxia 2" RELATED [MONDO:Lexical, OMIM:183090] +synonym: "SCA2" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C148315, OMIM:183090, Orphanet:98756] +synonym: "spinocerebellar ataxia 2" RELATED [MONDO:Lexical] synonym: "spinocerebellar ataxia Cuban type" RELATED [GARD:0004072] -synonym: "spinocerebellar ataxia type 2" EXACT [MONDORULE:1, OMIM:183090] +synonym: "spinocerebellar ataxia type 2" EXACT [DOID:0050955, icd11.foundation:1232187870, MONDORULE:1, NCIT:C148315, Orphanet:98756] synonym: "spinocerebellar ataxia with slow eye movements" RELATED [GARD:0004072] -synonym: "spinocerebellar ataxia, Cuban type" RELATED [OMIM:183090] -synonym: "spinocerebellar atrophy 2" RELATED [OMIM:183090] -synonym: "spinocerebellar Degeneration with slow eye movements" RELATED [OMIM:183090] +synonym: "spinocerebellar ataxia, Cuban type" RELATED [] +synonym: "spinocerebellar atrophy 2" RELATED [] +synonym: "spinocerebellar Degeneration with slow eye movements" RELATED [] synonym: "Wadia swami syndrome" RELATED [GARD:0004072] -synonym: "Wadia-swami syndrome" RELATED [OMIM:183090] +synonym: "Wadia-swami syndrome" RELATED [] xref: DOID:0050955 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0060204 {source="MONDO:equivalentTo"} xref: GARD:4072 {source="MONDO:GARD"} @@ -176077,12 +176102,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2063"} subset: orphanet_rare {source="Orphanet:2063"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SGFLD syndrome" EXACT [Orphanet:2063] -synonym: "Sgfld syndrome" RELATED [OMIM:183300] -synonym: "splenogonadal fusion limb defect syndrome" RELATED [OMIM:183300] +synonym: "SGFLD syndrome" EXACT [OMIM:183300, Orphanet:2063] +synonym: "Sgfld syndrome" RELATED [] +synonym: "splenogonadal fusion limb defect syndrome" RELATED [] synonym: "splenogonadal fusion limb defects micrognatia" RELATED [GARD:0004963] synonym: "splenogonadal fusion limb defects syndrome" RELATED [GARD:0004963] -synonym: "splenogonadal fusion with limb defects and micrognathia" RELATED [OMIM:183300] +synonym: "splenogonadal fusion with limb defects and micrognathia" RELATED [] xref: GARD:4963 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2063/attributed", source="Orphanet:2063/ntbt", source="Orphanet:2063"} xref: MEDGEN:401073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -176109,8 +176134,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008462 name: split lower lip -synonym: "split lower lip" EXACT [OMIM:183400] -synonym: "split Lower type lip" EXACT [MONDORULE:4, OMIM:183400] +synonym: "split lower lip" EXACT [] +synonym: "split Lower type lip" EXACT [MONDORULE:4] xref: MEDGEN:356607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:183400 {source="MONDO:equivalentTo"} xref: UMLS:C1866743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356607"} @@ -176133,16 +176158,16 @@ def: "Split-hand/foot malformation mapped to chromosome 7q21.3" [NCIT:C75045] subset: gard_rare {source="GARD:7685", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ectrodactyly" RELATED [OMIM:183600] +synonym: "ectrodactyly" RELATED [] synonym: "SHFD1" EXACT ABBREVIATION [DOID:0090021] synonym: "SHFM1" EXACT ABBREVIATION [DECIPHER:46, DOID:0090021, MONDO:Lexical, OMIM:183600] -synonym: "split hand-foot malformation type 1" EXACT [DOID:0090021, MONDORULE:1] +synonym: "split hand-foot malformation type 1" EXACT [MONDORULE:1] synonym: "split hand/foot malformation 1" EXACT [DECIPHER:46] -synonym: "split-hand deformity" RELATED [OMIM:183600] -synonym: "split-hand/foot deformity 1" RELATED [OMIM:183600] -synonym: "split-hand/foot malformation 1" RELATED [MONDO:Lexical, OMIM:183600] -synonym: "split-hand/foot malformation 1 with or without deafness" RELATED [OMIM:183600] -synonym: "split-hand/foot malformation type 1" EXACT [MONDORULE:1, OMIM:183600] +synonym: "split-hand deformity" RELATED [] +synonym: "split-hand/foot deformity 1" RELATED [] +synonym: "split-hand/foot malformation 1" RELATED [MONDO:Lexical] +synonym: "split-hand/foot malformation 1 with or without deafness" RELATED [] +synonym: "split-hand/foot malformation type 1" EXACT [MONDORULE:1, NCIT:C75045] xref: DECIPHER:46 {source="MONDO:equivalentTo"} xref: DOID:0090021 {source="MONDO:equivalentTo"} xref: GARD:7685 {source="MONDO:GARD"} @@ -176169,10 +176194,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Patterson Stevenson Fontaine syndrome" RELATED [GARD:0004260] synonym: "Patterson-Stevenson syndrome" EXACT [Orphanet:2439] -synonym: "Patterson-Stevenson-Fontaine syndrome" EXACT [OMIM:183700] +synonym: "Patterson-Stevenson-Fontaine syndrome" EXACT [OMIM:183700, Orphanet:2439] synonym: "split foot deformity-mandibulofacial dysostosis syndrome" EXACT [Orphanet:2439] synonym: "split-foot deformity with ectrodactyly and mandibulofacial dysostosis" RELATED [GARD:0004260] -synonym: "split-foot deformity with mandibulofacial dysostosis" RELATED [OMIM:183700] +synonym: "split-foot deformity with mandibulofacial dysostosis" RELATED [] xref: GARD:4260 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:2439/attributed", source="Orphanet:2439/ntbt", source="Orphanet:2439"} xref: MEDGEN:1808766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -176194,13 +176219,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:2329"} subset: orphanet_rare {source="Orphanet:2329"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Karsch-Neugebauer syndrome" EXACT [OMIM:183800] +synonym: "Karsch-Neugebauer syndrome" EXACT [OMIM:183800, Orphanet:2329] synonym: "KNS" RELATED ABBREVIATION [GARD:0004967] -synonym: "Nystagmus-split hand syndrome" RELATED [OMIM:183800] +synonym: "Nystagmus-split hand syndrome" RELATED [] synonym: "split hand nystagmus syndrome" RELATED [GARD:0004967] synonym: "split hand split foot nystagmus" RELATED [GARD:0004967] synonym: "split hand/split foot-nystagmus syndrome" EXACT [Orphanet:2329] -synonym: "split-hand with congenital NYSTAGMUS, fundal changes, and cataracts" RELATED [OMIM:183800] +synonym: "split-hand with congenital NYSTAGMUS, fundal changes, and cataracts" RELATED [] xref: GARD:4967 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:2329/attributed", source="Orphanet:2329/ntbt", source="Orphanet:2329"} xref: MEDGEN:401072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -176228,7 +176253,7 @@ subset: rare synonym: "split hand urinary anomalies spina bifida" RELATED [GARD:0004969] synonym: "split hand with obstructive uropathy, spina bifida and diaphragmatic defects" EXACT [Orphanet:2437] synonym: "split hand-urinary anomalies-spina bifida syndrome" EXACT [Orphanet:2437] -synonym: "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" RELATED [OMIM:183802] +synonym: "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" RELATED [] xref: GARD:4969 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2437", source="Orphanet:2437/attributed", source="Orphanet:2437/ntbt"} xref: MEDGEN:401071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -176247,7 +176272,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0008468 name: spondyloarthropathy, susceptibility to, 2 subset: predisposition -synonym: "SPDA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:183840] +synonym: "SPDA2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "spondyloarthropathy, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:183840] xref: DOID:0080604 {source="MONDO:equivalentTo"} xref: MEDGEN:355791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -176265,9 +176290,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:168443"} subset: orphanet_rare {source="Orphanet:168443"} subset: rare -synonym: "spondyloepimetaphyseal dysplasia with hypotrichosis" RELATED [OMIM:183849] +synonym: "spondyloepimetaphyseal dysplasia with hypotrichosis" RELATED [] synonym: "Whyte Petersen McAlister syndrome" RELATED [GARD:0010101] -synonym: "Whyte syndrome" RELATED [OMIM:183849] +synonym: "Whyte syndrome" RELATED [] xref: GARD:10101 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:168443/attributed", source="Orphanet:168443/ntbt", source="Orphanet:168443"} xref: MEDGEN:357120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -176284,8 +176309,8 @@ id: MONDO:0008470 name: spondyloepiphyseal dysplasia with punctate corneal dystrophy subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "spondyloepiphyseal dysplasia with punctate corneal dystrophy" EXACT [OMIM:183850] -synonym: "spondyloepiphyseal dysplasia, Byers type" EXACT [Orphanet:163673] +synonym: "spondyloepiphyseal dysplasia with punctate corneal dystrophy" EXACT [DOID:0112286, OMIM:183850] +synonym: "spondyloepiphyseal dysplasia, Byers type" EXACT [] xref: DOID:0112286 {source="MONDO:equivalentTo"} xref: MEDGEN:357119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566660 {source="MONDO:equivalentTo"} @@ -176306,12 +176331,12 @@ subset: ordo_disorder {source="Orphanet:94068"} subset: orphanet_rare {source="Orphanet:94068"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital spondyloepiphyseal dysplasia" RELATED [https://orcid.org/0000-0001-8612-1062, Orphanet:94068] -synonym: "late spondyloepiphyseal dysplasia" EXACT EXCLUDE [DOID:14789, MTH:NOCODE] +synonym: "congenital spondyloepiphyseal dysplasia" RELATED [https://orcid.org/0000-0001-8612-1062] +synonym: "late spondyloepiphyseal dysplasia" EXACT EXCLUDE [MTH:NOCODE] synonym: "SED congenita" EXACT [OMIM:183900] synonym: "SEDC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:183900, Orphanet:94068] -synonym: "spondyloepiphyseal dysplasia congenita" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:183900] -synonym: "spondyloepiphyseal dysplasia tarda, X-linked; SEDT" EXACT EXCLUDE [DOID:14789] +synonym: "spondyloepiphyseal dysplasia congenita" EXACT CLINGEN_LABEL [DOID:14789, MONDO:Lexical, OMIM:183900, Orphanet:94068] +synonym: "spondyloepiphyseal dysplasia tarda, X-linked; SEDT" EXACT EXCLUDE [] synonym: "Spondyloepiphyseal Dysplasia, Congenital" EXACT [NORD:1733] synonym: "spondyloepiphyseal dysplasia, congenital type" EXACT [OMIM:183900] synonym: "Spranger-Wiedemann disease" EXACT [Orphanet:94068] @@ -176345,7 +176370,7 @@ subset: ordo_disorder {source="Orphanet:163668"} subset: ordo_malformation_syndrome {source="Orphanet:163668"} subset: orphanet_rare {source="Orphanet:163668"} subset: rare -synonym: "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness" RELATED [OMIM:184000] +synonym: "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness" RELATED [] synonym: "spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome" EXACT [Orphanet:163668] xref: GARD:16996 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:163668/attributed", source="Orphanet:163668/ntbt", source="Orphanet:163668"} @@ -176368,11 +176393,11 @@ subset: orphanet_rare {source="Orphanet:263482"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "brachyolmia Maroteaux type" RELATED [GARD:0000994] -synonym: "pseudo-Morquio syndrome type 2" EXACT [Orphanet:263482] -synonym: "pseudo-Morquio syndrome, type 2" RELATED [OMIM:184095] -synonym: "SED, Maroteaux type" EXACT [OMIM:184095] -synonym: "spondyloepimetaphyseal dysplasia, Maroteaux type" EXACT CLINGEN_LABEL [https://orcid.org/0000-0003-4972-2947, PMID:14755468, PMID:20503319, PMID:31633310] -synonym: "spondyloepiphyseal dysplasia Maroteaux type" EXACT [GARD:0000994] +synonym: "pseudo-Morquio syndrome type 2" EXACT [DOID:0111553, Orphanet:263482] +synonym: "pseudo-Morquio syndrome, type 2" RELATED [] +synonym: "SED, Maroteaux type" EXACT [DOID:0111553, OMIM:184095] +synonym: "spondyloepimetaphyseal dysplasia, Maroteaux type" EXACT CLINGEN_LABEL [https://orcid.org/0000-0003-4972-2947, Orphanet:263482, PMID:14755468, PMID:20503319, PMID:31633310] +synonym: "spondyloepiphyseal dysplasia Maroteaux type" EXACT [DOID:0111553, GARD:0000994] synonym: "spondyloepiphyseal dysplasia, Maroteaux type" EXACT [OMIM:184095] xref: DOID:0111553 {source="MONDO:equivalentTo"} xref: GARD:994 {source="MONDO:GARD"} @@ -176397,7 +176422,7 @@ def: "Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant S subset: gard_rare {source="GARD:10624", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant spondyloepiphyseal dysplasia tarda" EXACT [] +synonym: "autosomal dominant spondyloepiphyseal dysplasia tarda" EXACT [DOID:0112285] synonym: "spondyloepiphyseal dysplasia tarda, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:184100] xref: DOID:0112285 {source="MONDO:equivalentTo"} xref: GARD:10624 {source="MONDO:GARD"} @@ -176418,7 +176443,7 @@ id: MONDO:0008475 name: spondylolisthesis def: "A condition in which there is forward displacement of a vertebral bone over the on below it." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "spondylolisthesis" EXACT [MONDO:ambiguous, OMIM:184200] +synonym: "spondylolisthesis" EXACT [DOID:6682, icd11.foundation:1075039772, MONDO:ambiguous, NCIT:C35033, OMIM:184200] synonym: "spondylolisthesis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:6682 {source="MONDO:equivalentTo", source="EFO:0007493"} xref: EFO:0007493 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -176448,21 +176473,21 @@ subset: ordo_disorder {source="Orphanet:93346"} subset: orphanet_rare {source="Orphanet:93346"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dappled metaphysis syndrome" RELATED [OMIM:184250] -synonym: "SEMD, Strudwick type" RELATED [OMIM:184250] -synonym: "Semdc" RELATED [OMIM:184250] -synonym: "SEMDSTWK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184250] +synonym: "dappled metaphysis syndrome" RELATED [] +synonym: "SEMD, Strudwick type" RELATED [] +synonym: "Semdc" RELATED [] +synonym: "SEMDSTWK" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SmD" RELATED [GARD:0000134] synonym: "SMED Strudwick type" RELATED [GARD:0000134] synonym: "SMED type 1" RELATED [GARD:0000134] -synonym: "Smed, Strudwick type" RELATED [OMIM:184250] -synonym: "Smed, type 1" RELATED [OMIM:184250] -synonym: "spondyloepimetaphyseal dysplasia congenita, Strudwick type" RELATED [Orphanet:93346] +synonym: "Smed, Strudwick type" RELATED [] +synonym: "Smed, type 1" RELATED [] +synonym: "spondyloepimetaphyseal dysplasia congenita, Strudwick type" RELATED [] synonym: "spondyloepimetaphyseal dysplasia Strudwick type" RELATED [GARD:0000134] -synonym: "spondyloepimetaphyseal dysplasia, Strudwick type" EXACT [MONDO:Lexical, OMIM:184250] -synonym: "spondylometaepiphyseal dysplasia congenita, Strudwick type" RELATED [OMIM:184250] -synonym: "spondylometaphyseal dysplasia" RELATED [OMIM:184250] -synonym: "Strudwick syndrome" RELATED [OMIM:184250] +synonym: "spondyloepimetaphyseal dysplasia, Strudwick type" EXACT [DOID:0080028, MONDO:Lexical, OMIM:184250] +synonym: "spondylometaepiphyseal dysplasia congenita, Strudwick type" RELATED [] +synonym: "spondylometaphyseal dysplasia" RELATED [] +synonym: "Strudwick syndrome" RELATED [] xref: DOID:0080028 {source="MONDO:equivalentTo"} xref: GARD:134 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93346", source="Orphanet:93346/attributed", source="Orphanet:93346/ntbt"} @@ -176506,9 +176531,9 @@ synonym: "Jequier Kozlowski skeletal dysplasia" RELATED [GARD:0003047] synonym: "Jequier-Kozlowski syndrome" RELATED [GARD:0003047] synonym: "skeletal dysplasia Jequier-Kozlowski type" RELATED [GARD:0003047] synonym: "SmD Kozlowski type" RELATED [GARD:0003047] -synonym: "SmD, Kozlowski type" RELATED [OMIM:184252] -synonym: "SMDK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184252] -synonym: "spondylometaphyseal dysplasia, Kozlowski type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:184252] +synonym: "SmD, Kozlowski type" RELATED [] +synonym: "SMDK" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spondylometaphyseal dysplasia, Kozlowski type" EXACT CLINGEN_LABEL [icd11.foundation:360868302, MONDO:Lexical, OMIM:184252, Orphanet:93314] xref: DOID:0111554 {source="MONDO:equivalentTo"} xref: GARD:3047 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:93314", source="Orphanet:93314/attributed", source="Orphanet:93314/ntbt"} @@ -176539,9 +176564,9 @@ subset: rare synonym: "Schmid metaphyseal dysostosis" RELATED [GARD:0000504] synonym: "spondylometaphyseal dysplasia Algerian type" RELATED [GARD:0000504] synonym: "spondylometaphyseal dysplasia Schmidt type" RELATED [GARD:0000504] -synonym: "spondylometaphyseal dysplasia with severe genu valgum" EXACT [OMIM:184253, Orphanet:93316] +synonym: "spondylometaphyseal dysplasia with severe genu valgum" EXACT [DOID:0112296, icd11.foundation:1092012084, OMIM:184253, Orphanet:93316] synonym: "spondylometaphyseal dysplasia, Algerian type" EXACT [OMIM:184253, Orphanet:93316] -synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT [OMIM:184253] +synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT [DOID:0112296, icd11.foundation:1092012084, OMIM:184253, Orphanet:93316] xref: DOID:0112296 {source="MONDO:equivalentTo"} xref: GARD:504 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:93316/attributed", source="Orphanet:93316/ntbt", source="Orphanet:93316"} @@ -176566,10 +176591,10 @@ subset: ordo_disorder {source="Orphanet:93315"} subset: orphanet_rare {source="Orphanet:93315"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SMDCF" RELATED ABBREVIATION [OMIM:184255] +synonym: "SMDCF" RELATED ABBREVIATION [] synonym: "spondylometaphyseal dysplasia corner fracture type" RELATED [GARD:0004991] synonym: "spondylometaphyseal dysplasia Sutcliffe type" RELATED [GARD:0004991] -synonym: "spondylometaphyseal dysplasia, corner fracture type" RELATED [OMIM:184255] +synonym: "spondylometaphyseal dysplasia, corner fracture type" RELATED [] synonym: "spondylometaphyseal dysplasia, Sutcliffe type" EXACT [OMIM:184255, Orphanet:93315] synonym: "Sutcliffe SmD" RELATED [GARD:0004991] synonym: "Sutcliffe type of spondylometaphyseal dysplasia" RELATED [GARD:0004991] @@ -176624,7 +176649,7 @@ subset: rare synonym: "congenital elevation of the scapula" RELATED [GARD:0007693] synonym: "congenital upward displacement of the scapula" RELATED [GARD:0007693] synonym: "high scapula" EXACT [OMIM:184400, Orphanet:3181] -synonym: "Sprengel deformity" EXACT [MONDO:ambiguous, OMIM:184400] +synonym: "Sprengel deformity" EXACT [icd11.foundation:2144522441, MONDO:ambiguous, OMIM:184400, Orphanet:3181] synonym: "Sprengel deformity (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Sprengel's deformity" RELATED [GARD:0007693] synonym: "Sprengel's shoulder" RELATED [GARD:0007693] @@ -176646,7 +176671,7 @@ property_value: IAO:0000589 "Sprengel deformity (disease)" xsd:string [Term] id: MONDO:0008483 name: stuttering, familial persistent, 1 -synonym: "stammering" RELATED [OMIM:184450] +synonym: "stammering" RELATED [] synonym: "STUT1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:184450] synonym: "stuttering, familial persistent, 1" EXACT [OMIM:184450] xref: MEDGEN:483580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -176667,9 +176692,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:140917"} subset: orphanet_rare {source="Orphanet:140917"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly" RELATED [OMIM:184460] -synonym: "stapes ankylosis syndrome without symphalangism" RELATED [OMIM:184460] -synonym: "stapes ankylosis with BROAD thumb and toes" RELATED [OMIM:184460] +synonym: "ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly" RELATED [] +synonym: "stapes ankylosis syndrome without symphalangism" RELATED [] +synonym: "stapes ankylosis with BROAD thumb and toes" RELATED [] synonym: "Teunissen-Cremers syndrome" EXACT [OMIM:184460, Orphanet:140917] xref: GARD:12631 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:140917/attributed", source="Orphanet:140917/ntbt", source="Orphanet:140917"} @@ -176696,9 +176721,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "multiple sebaceous cysts" RELATED [GARD:0005003] synonym: "multiplex steatocystoma" RELATED [GARD:0005003] -synonym: "sebaceous cysts, multiple" RELATED [OMIM:184500] -synonym: "STEATOCYSTOMA multiplex" RELATED [OMIM:184500] -synonym: "Steatocystoma multiplex" EXACT [Orphanet:841] +synonym: "sebaceous cysts, multiple" RELATED [] +synonym: "STEATOCYSTOMA multiplex" RELATED [] +synonym: "Steatocystoma multiplex" EXACT [DOID:0111556, OMIM:184500, Orphanet:841] xref: DOID:0111556 {source="MONDO:equivalentTo"} xref: GARD:5003 {source="MONDO:GARD"} xref: ICD10CM:L72.2 {source="Orphanet:841", source="Orphanet:841/e", source="Orphanet:841/specific"} @@ -176724,7 +176749,7 @@ subset: orphanet_rare {source="Orphanet:3184"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Natal teeth and steatocystoma multiplex" RELATED [GARD:0005004] -synonym: "STEATOCYSTOMA multiplex with NATAL teeth" RELATED [OMIM:184510] +synonym: "STEATOCYSTOMA multiplex with NATAL teeth" RELATED [] xref: GARD:5004 {source="MONDO:GARD"} xref: ICD10CM:L72.2 {source="Orphanet:3184/attributed", source="Orphanet:3184/ntbt", source="Orphanet:3184"} xref: MEDGEN:356586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -176740,18 +176765,18 @@ id: MONDO:0008487 name: polycystic ovary syndrome def: "A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "hyperandrogenemia" RELATED [OMIM:184700] +synonym: "hyperandrogenemia" RELATED [] synonym: "multicystic ovaries" EXACT [DOID:11612] -synonym: "PCO1" RELATED [OMIM:184700] -synonym: "PCOS" EXACT ABBREVIATION [DOID:11612, OMIM:184700, Orphanet:3185] -synonym: "PCOS1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:184700] -synonym: "polycystic ovarian disease" EXACT [DOID:11612, NCIT:C27086] +synonym: "PCO1" RELATED [] +synonym: "PCOS" EXACT ABBREVIATION [DOID:11612, NCIT:C26862, OMIM:184700] +synonym: "PCOS1" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "polycystic ovarian disease" EXACT [DOID:11612, NCIT:C26862] synonym: "polycystic ovaries" EXACT [DOID:11612, ICD9CM:256.4] synonym: "polycystic ovary" EXACT [DOID:11612] -synonym: "polycystic ovary syndrome" EXACT [DOID:11612] -synonym: "polycystic ovary syndrome 1" NARROW [MONDO:Lexical, OMIM:184700, OMIM:genemap2] +synonym: "polycystic ovary syndrome" EXACT [DOID:11612, NCIT:C26862] +synonym: "polycystic ovary syndrome 1" NARROW [MONDO:Lexical] synonym: "Stein-Leventhal synd." EXACT [DOID:11612] -synonym: "Stein-Leventhal syndrome" EXACT [DOID:11612, NCIT:C26862, OMIM:184700, Orphanet:3185] +synonym: "Stein-Leventhal syndrome" EXACT [DOID:11612, icd11.foundation:1213633323, NCIT:C26862, OMIM:184700] xref: DOID:11612 {source="EFO:0000660", source="MONDO:equivalentTo"} xref: EFO:0000660 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E28.2 {source="DOID:11612"} @@ -176788,8 +176813,8 @@ subset: orphanet_rare {source="Orphanet:3186"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "holoprosencephaly radial heart renal anomalies" RELATED [GARD:0002727] -synonym: "STEINFELD syndrome" RELATED [OMIM:184705] -synonym: "Steinfeld syndrome" EXACT [Orphanet:3186] +synonym: "STEINFELD syndrome" RELATED [] +synonym: "Steinfeld syndrome" EXACT [OMIM:184705, Orphanet:3186] xref: GARD:2727 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3186/attributed", source="Orphanet:3186/ntbt", source="Orphanet:3186"} xref: MEDGEN:401047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -176824,34 +176849,34 @@ subset: orphanet_rare {source="Orphanet:166100"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "COL11A2 Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "heterozygous OSMED" EXACT [Orphanet:3450] -synonym: "heterozygous otospondylomegaepiphyseal dysplasia" EXACT [Orphanet:3450] -synonym: "OSMED, Heterozygous" EXACT [NORD:1533] +synonym: "heterozygous OSMED" EXACT [] +synonym: "heterozygous otospondylomegaepiphyseal dysplasia" EXACT [] +synonym: "OSMED, Heterozygous" EXACT [NORD:1533, OMIM:184840] synonym: "OSMED, heterozygous" EXACT [OMIM:184840] synonym: "OSMEDA" EXACT ABBREVIATION [OMIM:184840] -synonym: "otospondylomegaepiphyseal dysplasia, autosomal dominant" EXACT [OMIM:184840] +synonym: "otospondylomegaepiphyseal dysplasia, autosomal dominant" EXACT [DOID:0080677, OMIM:184840] synonym: "Piere-Robin syndrome" EXACT [DOID:4258] synonym: "Pierre Robin malformation" EXACT [DOID:4258] -synonym: "Pierre Robin sequence-fetal chondrodysplasia syndrome" EXACT [Orphanet:3450] -synonym: "Pierre Robin syndrome with fetal chondrodysplasia" EXACT [OMIM:277610] -synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" EXACT [OMIM:184840] +synonym: "Pierre Robin sequence-fetal chondrodysplasia syndrome" EXACT [] +synonym: "Pierre Robin syndrome with fetal chondrodysplasia" EXACT [] +synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" EXACT [] synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" EXACT [OMIM:184840] synonym: "Pierre Robin syndrome with foetal chondrodysplasia" EXACT OMO:0003005 [] synonym: "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type" EXACT OMO:0003005 [] synonym: "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" EXACT OMO:0003005 [] -synonym: "Pierre Robin syndrome-fetal chondrodysplasia syndrome" EXACT [Orphanet:3450] +synonym: "Pierre Robin syndrome-fetal chondrodysplasia syndrome" EXACT [] synonym: "Stickler syndrome caused by mutation in COL11A2" EXACT [MONDO:design_pattern] synonym: "Stickler syndrome nonocular type" RELATED [GARD:0005021] synonym: "Stickler syndrome, non-ocular type" EXACT [Orphanet:166100] -synonym: "Stickler syndrome, Nonocular type" RELATED [OMIM:184840] +synonym: "Stickler syndrome, Nonocular type" RELATED [] synonym: "Stickler syndrome, type 3" EXACT [GARD:0005021] -synonym: "STICKLER syndrome, type III" EXACT [MONDO:Lexical, OMIM:184840] +synonym: "STICKLER syndrome, type III" EXACT [MONDO:Lexical] synonym: "Stickler syndrome, type III, formerly" EXACT [OMIM:184840] -synonym: "STL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:184840] -synonym: "Weissenbacher- Zweymuller syndrome" RELATED [Orphanet:3450] -synonym: "Weissenbacher-Zweymuller syndrome" EXACT [MONDO:0010195, MONDO:Lexical, OMIM:277610] +synonym: "STL3" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "Weissenbacher- Zweymuller syndrome" RELATED [] +synonym: "Weissenbacher-Zweymuller syndrome" EXACT [DOID:4258, MONDO:0010195, MONDO:Lexical, OMIM:184840] synonym: "Weissenbacher-Zweymüller syndrome" RELATED [GARD:0004351] -synonym: "WZS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:277610] +synonym: "WZS" EXACT ABBREVIATION [MONDO:Lexical] xref: DOID:0080677 {source="MONDO:equivalentTo"} xref: DOID:4258 {source="MONDO:equivalentTo"} xref: GARD:5021 {source="MONDO:GARD"} @@ -176890,19 +176915,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Moersch-Woltman syndrome" EXACT [Orphanet:3198] synonym: "Morsch Woltman syndrome" RELATED [GARD:0005023] -synonym: "progressive encephalomyelitis with rigidity" RELATED [OMIM:184850] -synonym: "SMS" RELATED ABBREVIATION [Orphanet:3198] -synonym: "SPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184850, Orphanet:3198] -synonym: "Stiff man syndrome" EXACT [Orphanet:3198] -synonym: "stiff man syndrome" EXACT [DOID:13366] -synonym: "Stiff Person Syndrome" EXACT [NORD:1740] +synonym: "progressive encephalomyelitis with rigidity" RELATED [] +synonym: "SMS" RELATED ABBREVIATION [] +synonym: "SPS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Stiff man syndrome" EXACT [DOID:13366, Orphanet:3198] +synonym: "stiff man syndrome" EXACT [DOID:13366, Orphanet:3198] +synonym: "Stiff Person Syndrome" EXACT [NCIT:C85170, NORD:1740] synonym: "Stiff Person syndrome" EXACT [NCIT:C85170] -synonym: "Stiff person syndrome and related disorders" RELATED [Orphanet:3198] -synonym: "Stiff-Man syndrome" RELATED [OMIM:184850] -synonym: "Stiff-man syndrome" EXACT [DOID:13366, ICD9CM:333.91] -synonym: "STIFF-PERSON syndrome" RELATED [OMIM:184850] -synonym: "stiff-person syndrome" EXACT [MONDO:Lexical, OMIM:184850] -synonym: "Stiff-trunk syndrome" RELATED [OMIM:184850] +synonym: "Stiff person syndrome and related disorders" RELATED [] +synonym: "Stiff-Man syndrome" RELATED [] +synonym: "Stiff-man syndrome" EXACT [DOID:13366, ICD9CM:333.91, OMIM:184850] +synonym: "STIFF-PERSON syndrome" RELATED [] +synonym: "stiff-person syndrome" EXACT [DOID:13366, MONDO:Lexical, NCIT:C85170, OMIM:184850] +synonym: "Stiff-trunk syndrome" RELATED [] xref: DOID:13366 {source="MONDO:equivalentTo", source="EFO:0007498"} xref: EFO:0007498 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5023 {source="MONDO:GARD"} @@ -176934,9 +176959,9 @@ subset: ordo_disorder {source="Orphanet:2833"} subset: orphanet_rare {source="Orphanet:2833"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SSKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:184900] -synonym: "STIFF skin syndrome" RELATED [OMIM:184900] -synonym: "stiff skin syndrome" EXACT [MONDO:Lexical, OMIM:184900] +synonym: "SSKS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "STIFF skin syndrome" RELATED [] +synonym: "stiff skin syndrome" EXACT [DOID:0111561, icd11.foundation:642409035, MONDO:Lexical, NCIT:C118636, OMIM:184900, Orphanet:2833] xref: DOID:0111561 {source="MONDO:equivalentTo"} xref: GARD:5025 {source="MONDO:GARD"} xref: ICD10CM:L98.8 {source="Orphanet:2833", source="Orphanet:2833/attributed", source="Orphanet:2833/ntbt"} @@ -176962,13 +176987,13 @@ subset: ordo_disorder {source="Orphanet:3203"} subset: orphanet_rare {source="Orphanet:3203"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:185000] -synonym: "OHST" RELATED ABBREVIATION [OMIM:185000] -synonym: "OVERHYDRATED hereditary stomatocytosis" RELATED [OMIM:185000] -synonym: "overhydrated hereditary stomatocytosis" EXACT [MONDO:Lexical, OMIM:185000] +synonym: "OHS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "OHST" RELATED ABBREVIATION [] +synonym: "OVERHYDRATED hereditary stomatocytosis" RELATED [] +synonym: "overhydrated hereditary stomatocytosis" EXACT [DOID:0111562, icd11.foundation:595647587, MONDO:Lexical, OMIM:185000, Orphanet:3203] synonym: "Potassium sodium disorder of erythrocyte" RELATED [GARD:0004183] -synonym: "Potassium-sodium disorder of erythrocyte" RELATED [OMIM:185000] -synonym: "stomatocytosis 1" RELATED [OMIM:185000] +synonym: "Potassium-sodium disorder of erythrocyte" RELATED [] +synonym: "stomatocytosis 1" RELATED [] synonym: "stomatocytosis I" RELATED [GARD:0004183] xref: DOID:0111562 {source="MONDO:equivalentTo"} xref: GARD:4183 {source="MONDO:GARD"} @@ -176996,7 +177021,7 @@ subset: rare synonym: "CHC" EXACT ABBREVIATION [OMIM:185020] synonym: "cryohydrocytosis" EXACT [OMIM:185020] synonym: "hereditary cryohydrocytosis with normal stomatin" EXACT [Orphanet:398088] -synonym: "pseudohyperkalemia Cardiff" RELATED [OMIM:185020] +synonym: "pseudohyperkalemia Cardiff" RELATED [] synonym: "stomatocytosis, cold-sensitive" EXACT [OMIM:185020] xref: GARD:10184 {source="MONDO:GARD"} xref: ICD10CM:D58.8 {source="Orphanet:398088", source="Orphanet:398088/attributed", source="Orphanet:398088/ntbt"} @@ -177019,14 +177044,14 @@ subset: ordo_disorder {source="Orphanet:734"} subset: orphanet_rare {source="Orphanet:734"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alpha delta granule deficiency" RELATED [Orphanet:734] +synonym: "alpha delta granule deficiency" RELATED [] synonym: "alpha dense granule deficiency" EXACT [Orphanet:734] synonym: "combined alpha-delta platelet storage pool deficiency" EXACT [Orphanet:734] synonym: "dense body defect" EXACT [DOID:2223] synonym: "platelet dense granule deficiency" EXACT [DOID:2223] synonym: "platelet storage pool defect" EXACT [DOID:2223] synonym: "platelet storage pool diseases" RELATED [GARD:0005034] -synonym: "storage pool platelet disease" RELATED [OMIM:185050] +synonym: "storage pool platelet disease" RELATED [] xref: DOID:2223 {source="EFO:1001112", source="MONDO:equivalentTo"} xref: EFO:1001112 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5034 {source="MONDO:GARD"} @@ -177068,14 +177093,14 @@ subset: ordo_disorder {source="Orphanet:3204"} subset: orphanet_rare {source="Orphanet:3204"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Stormorken syndrome" EXACT [MONDO:Lexical, OMIM:185070, Orphanet:3204] -synonym: "Stormorken-Sjaastad-Langslet syndrome" RELATED [Orphanet:3204] -synonym: "STRMK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:185070] +synonym: "Stormorken syndrome" EXACT [DOID:0060354, MONDO:Lexical, OMIM:185070, Orphanet:3204] +synonym: "Stormorken-Sjaastad-Langslet syndrome" RELATED [] +synonym: "STRMK" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Thrombocytopathy asplenia miosis" RELATED [GARD:0005188] synonym: "thrombocytopathy, asplenia and miosis" EXACT [DOID:0060354] -synonym: "Thrombocytopathy, asplenia, and miosis" RELATED [OMIM:185070] +synonym: "Thrombocytopathy, asplenia, and miosis" RELATED [] synonym: "Thrombocytopathy-asplenia-miosis syndrome" EXACT [Orphanet:3204] -synonym: "york Platelet syndrome" RELATED [OMIM:185070] +synonym: "york Platelet syndrome" RELATED [] xref: DOID:0060354 {source="MONDO:equivalentTo"} xref: GARD:5188 {source="MONDO:GARD"} xref: ICD10CM:D69.8 {source="Orphanet:3204/attributed", source="Orphanet:3204/ntbt", source="Orphanet:3204"} @@ -177095,7 +177120,7 @@ id: MONDO:0008498 name: strabismus, susceptibility to subset: predisposition synonym: "strabismus, susceptibility to" EXACT [OMIM:185100] -synonym: "strabismus, susceptibility to, 1" RELATED [OMIM:185100] +synonym: "strabismus, susceptibility to, 1" RELATED [] xref: MEDGEN:350026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:185100 {source="MONDO:equivalentTo"} xref: UMLS:C1861449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350026"} @@ -177115,11 +177140,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2863"} subset: orphanet_rare {source="Orphanet:2863"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly" RELATED [OMIM:185120] +synonym: "Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly" RELATED [] synonym: "short stature wormian bones dextrocardia" RELATED [GARD:0004856] synonym: "Stratton Parker syndrome" RELATED [GARD:0004856] -synonym: "STRATTON-PARKER syndrome" RELATED [OMIM:185120] -synonym: "Stratton-Parker syndrome" EXACT [Orphanet:2863] +synonym: "STRATTON-PARKER syndrome" RELATED [] +synonym: "Stratton-Parker syndrome" EXACT [OMIM:185120, Orphanet:2863] xref: GARD:4856 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2863/attributed", source="Orphanet:2863/ntbt", source="Orphanet:2863"} xref: MEDGEN:350025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -177152,8 +177177,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:3205"} subset: orphanet_rare {source="Orphanet:3205"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "encephalofacial angiomatosis" EXACT [Orphanet:3205] -synonym: "encephalotrigeminal angiomatosis" EXACT [Orphanet:3205] +synonym: "encephalofacial angiomatosis" EXACT [DOID:0111563, Orphanet:3205] +synonym: "encephalotrigeminal angiomatosis" EXACT [DOID:0111563, icd11.foundation:1173035836, Orphanet:3205] synonym: "encephalotrigeminal syndrome" EXACT [NCIT:C3391] synonym: "fourth phacomatosis" RELATED [GARD:0007706] synonym: "leptomeningeal angiomatosis" RELATED [GARD:0007706] @@ -177161,12 +177186,12 @@ synonym: "meningeal capillary angiomatosis" RELATED [GARD:0007706] synonym: "Sturge Weber Syndrome" EXACT [NORD:1741] synonym: "Sturge Weber syndrome" EXACT [GARD:0007706, NORD:1741, PMID:37498137] synonym: "Sturge-Weber disease" EXACT [NCIT:C3391] -synonym: "Sturge-Weber syndrome" EXACT [MONDO:Lexical, OMIM:185300] -synonym: "Sturge-Weber syndrome, somatic, mosaic" EXACT [OMIM:185300, OMIM:genemap2] -synonym: "Sturge-Weber-Dimitri syndrome" EXACT [Orphanet:3205] -synonym: "Sturge-Weber-Krabbe angiomatosis" EXACT [Orphanet:3205] -synonym: "Sturge-Weber-Krabbe syndrome" EXACT [Orphanet:3205] -synonym: "SWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:185300, Orphanet:3205] +synonym: "Sturge-Weber syndrome" EXACT [DOID:0111563, icd11.foundation:1173035836, MONDO:Lexical, NCIT:C3391, OMIM:185300, Orphanet:3205] +synonym: "Sturge-Weber syndrome, somatic, mosaic" EXACT [] +synonym: "Sturge-Weber-Dimitri syndrome" EXACT [DOID:0111563, Orphanet:3205] +synonym: "Sturge-Weber-Krabbe angiomatosis" EXACT [DOID:0111563, Orphanet:3205] +synonym: "Sturge-Weber-Krabbe syndrome" EXACT [DOID:0111563, Orphanet:3205] +synonym: "SWS" EXACT ABBREVIATION [DOID:0111563, MONDO:Lexical, OMIM:185300, Orphanet:3205] synonym: "SWS type I - Facial and leptomeningeal angiomas" RELATED [GARD:0007706] synonym: "SWS type II - Facial angioma alone, no CNS involvement" RELATED [GARD:0007706] synonym: "SWS type III - isolated leptomeningeal angiomas" RELATED [GARD:0007706] @@ -177225,11 +177250,11 @@ subset: ordo_disorder {source="Orphanet:3465"} subset: ordo_malformation_syndrome {source="Orphanet:3465"} subset: orphanet_rare {source="Orphanet:3465"} subset: rare -synonym: "congenital suprabulbar paresis" EXACT [Orphanet:3465] +synonym: "congenital suprabulbar paresis" EXACT [icd11.foundation:1834138618, Orphanet:3465] synonym: "suprabulbar paresis congenital" RELATED [GARD:0005598] -synonym: "suprabulbar paresis, congenital" RELATED [OMIM:185480] +synonym: "suprabulbar paresis, congenital" RELATED [] synonym: "Worster Drought syndrome" RELATED [GARD:0005598] -synonym: "Worster-Drought syndrome" EXACT [OMIM:185480] +synonym: "Worster-Drought syndrome" EXACT [icd11.foundation:1834138618, OMIM:185480, Orphanet:3465] xref: GARD:5598 {source="MONDO:GARD"} xref: ICD10CM:G80.8 {source="Orphanet:3465/ntbt", source="Orphanet:3465"} xref: icd11.foundation:1834138618 {source="Orphanet:3465", source="MONDO:equivalentTo"} @@ -177259,9 +177284,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aortic supravalvular stenosis" RELATED [GARD:0000743] synonym: "supra-valvular aortic stenosis" EXACT [DOID:1929] -synonym: "supravalvar aortic stenosis" EXACT [OMIM:185500, OMIM:genemap2] -synonym: "supravalvar aortic stenosis, Eisenberg type" RELATED [OMIM:185500] -synonym: "supravalvular aortic stenosis" EXACT CLINGEN_LABEL [MONDO:ambiguous, MONDO:Lexical, OMIM:185500] +synonym: "supravalvar aortic stenosis" EXACT [] +synonym: "supravalvar aortic stenosis, Eisenberg type" RELATED [] +synonym: "supravalvular aortic stenosis" EXACT CLINGEN_LABEL [DOID:1929, icd11.foundation:1066595728, MONDO:ambiguous, MONDO:Lexical, NCIT:C85176, OMIM:185500, Orphanet:3193] synonym: "supravalvular aortic stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "SVAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:185500, Orphanet:3193] xref: DOID:1929 {source="MONDO:equivalentTo"} @@ -177288,8 +177313,8 @@ property_value: IAO:0000589 "supravalvular aortic stenosis (disease)" xsd:string id: MONDO:0008505 name: surface antigen, glycoprotein 75 synonym: "surface antigen, glycoprotein 75" EXACT [OMIM:185540] -synonym: "surface antigen, glycoprotein type 75" EXACT [MONDORULE:2, OMIM:185540] -synonym: "surface glycoprotein 75" RELATED [OMIM:185540] +synonym: "surface antigen, glycoprotein type 75" EXACT [MONDORULE:2] +synonym: "surface glycoprotein 75" RELATED [] xref: MEDGEN:396130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:185540 {source="MONDO:equivalentTo"} xref: UMLS:C1861423 {source="MEDGEN:396130", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -177309,8 +177334,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008507 name: surface polypeptides, anonymous -synonym: "Spa2" RELATED [OMIM:185610] -synonym: "Spa5" RELATED [OMIM:185610] +synonym: "Spa2" RELATED [] +synonym: "Spa5" RELATED [] synonym: "surface polypeptides, anonymous" EXACT [OMIM:185610] xref: MEDGEN:348354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:185610 {source="MONDO:equivalentTo"} @@ -177322,7 +177347,7 @@ id: MONDO:0008508 name: symphalangism, C. S. Lewis type subset: n_of_one {source="https://orcid.org/0000-0002-6601-2165"} synonym: "symphalangism, C. S. Lewis type" EXACT [OMIM:185650] -synonym: "thumbs, stiff" RELATED [OMIM:185650] +synonym: "thumbs, stiff" RELATED [] xref: MEDGEN:396126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566100 {source="MONDO:equivalentTo"} xref: OMIM:185650 {source="MONDO:equivalentTo"} @@ -177341,10 +177366,10 @@ subset: ordo_morphological_anomaly {source="Orphanet:3248"} subset: orphanet_rare {source="Orphanet:3248"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "distal symphalangism" EXACT [MONDO:ambiguous] +synonym: "distal symphalangism" EXACT [icd11.foundation:1737945585, MONDO:ambiguous] synonym: "distal symphalangism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "Sym2" RELATED [OMIM:185700] -synonym: "symphalangism, distal" RELATED [OMIM:185700] +synonym: "Sym2" RELATED [] +synonym: "symphalangism, distal" RELATED [] xref: GARD:5074 {source="MONDO:GARD"} xref: HP:0100263 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q70.9 {source="Orphanet:3248/attributed", source="Orphanet:3248/ntbt", source="Orphanet:3248"} @@ -177372,7 +177397,7 @@ subset: orphanet_rare {source="Orphanet:3246"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Learman syndrome" EXACT [Orphanet:3246] -synonym: "symphalangism with multiple anomalies of hands and feet" EXACT [OMIM:185750] +synonym: "symphalangism with multiple anomalies of hands and feet" EXACT [OMIM:185750, Orphanet:3246] xref: GARD:5077 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:3246", source="Orphanet:3246/attributed", source="Orphanet:3246/ntbt"} xref: MEDGEN:348859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -177401,8 +177426,8 @@ subset: prototype_pattern subset: rare synonym: "Cushing's symphalangism" EXACT [DOID:0050788] synonym: "hereditary absence of proximal interphalangeal joints" RELATED [GARD:0008182] -synonym: "hereditary absence of the proximal interphalangeal joints" RELATED [OMIM:185800] -synonym: "proximal symphalangism" EXACT [MONDO:ambiguous] +synonym: "hereditary absence of the proximal interphalangeal joints" RELATED [] +synonym: "proximal symphalangism" EXACT [DOID:0050788, icd11.foundation:49802338, MONDO:ambiguous, OMIMPS:185800, Orphanet:3250] synonym: "proximal symphalangism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Strasburger-Hawkins-Eldridge syndrome" RELATED [GARD:0008182] synonym: "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome" RELATED [GARD:0008182] @@ -177436,13 +177461,13 @@ subset: ordo_morphological_anomaly {source="Orphanet:93402"} subset: orphanet_rare {source="Orphanet:93402"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 2q35 DUPLICATION syndrome" RELATED [OMIM:185900] -synonym: "craniosynostosis, Philadelphia type" RELATED [OMIM:185900] -synonym: "Sd1" RELATED [OMIM:185900] +synonym: "chromosome 2q35 DUPLICATION syndrome" RELATED [] +synonym: "craniosynostosis, Philadelphia type" RELATED [] +synonym: "Sd1" RELATED [] synonym: "SDTY1" RELATED ABBREVIATION [GARD:0005081] -synonym: "syndactyly, type 1" RELATED [OMIM:185900] -synonym: "syndactyly, type 1, with or without craniosynostosis" EXACT [OMIM:185900, OMIM:genemap2] -synonym: "Zygodactyly" RELATED [OMIM:185900] +synonym: "syndactyly, type 1" RELATED [] +synonym: "syndactyly, type 1, with or without craniosynostosis" EXACT [DOID:0111816] +synonym: "Zygodactyly" RELATED [] xref: DOID:0111816 {source="MONDO:equivalentTo"} xref: GARD:5081 {source="MONDO:GARD"} xref: ICD10CM:Q70.0 {source="Orphanet:93402", source="Orphanet:93402/nd", source="Orphanet:93402/attributed"} @@ -177480,10 +177505,10 @@ synonym: "SD2, Vordingborg type" EXACT [Orphanet:295195] synonym: "SD2a" EXACT [Orphanet:295195] synonym: "SPD, Vordingborg type" EXACT [Orphanet:295195] synonym: "SPD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:186000, Orphanet:295195] -synonym: "syndactyly, type 2" RELATED [OMIM:186000] -synonym: "synpolydactyly 1" RELATED [MONDO:Lexical, OMIM:186000] -synonym: "synpolydactyly type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:186000] -synonym: "synpolydactyly with foot anomalies" RELATED [OMIM:186000] +synonym: "syndactyly, type 2" RELATED [] +synonym: "synpolydactyly 1" RELATED [MONDO:Lexical] +synonym: "synpolydactyly type 1" EXACT CLINGEN_LABEL [icd11.foundation:1701170393, MONDORULE:1, Orphanet:295195] +synonym: "synpolydactyly with foot anomalies" RELATED [] synonym: "synpolydactyly, Vordingborg type" EXACT [Orphanet:295195] xref: GARD:17358 {source="MONDO:GARD"} xref: ICD10CM:Q70.0 {source="Orphanet:295195", source="Orphanet:295195/nd", source="Orphanet:295195/attributed"} @@ -177515,14 +177540,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "GJA1 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic syndactyly caused by mutation in GJA1" EXACT [MONDO:design_pattern] -synonym: "Ring and Little finger syndactyly" RELATED [OMIM:186100] +synonym: "Ring and Little finger syndactyly" RELATED [] synonym: "SD3" EXACT ABBREVIATION [Orphanet:93404] -synonym: "Sdty3" RELATED [OMIM:186100] -synonym: "syndactyly of fingers 4 and 5" EXACT [OMIM:186100, Orphanet:93404] +synonym: "Sdty3" RELATED [] +synonym: "syndactyly of fingers 4 and 5" EXACT [DOID:0111817, OMIM:186100, Orphanet:93404] synonym: "syndactyly of fingers four and five" RELATED [GARD:0005088] synonym: "syndactyly of the ring and little finger" RELATED [GARD:0005088] -synonym: "syndactyly, type 3" RELATED [OMIM:186100] -synonym: "syndactyly, type III" RELATED [OMIM:186100] +synonym: "syndactyly, type 3" RELATED [] +synonym: "syndactyly, type III" RELATED [] xref: DOID:0111817 {source="MONDO:equivalentTo"} xref: GARD:5088 {source="MONDO:GARD"} xref: ICD10CM:Q70.1 {source="Orphanet:93404/attributed", source="Orphanet:93404/ntbt", source="Orphanet:93404"} @@ -177552,15 +177577,15 @@ subset: ordo_morphological_anomaly {source="Orphanet:93405"} subset: orphanet_rare {source="Orphanet:93405"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Haas type syndactyly" RELATED [OMIM:186200] +synonym: "Haas type syndactyly" RELATED [] synonym: "LMBR1 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic syndactyly caused by mutation in LMBR1" EXACT [MONDO:design_pattern] synonym: "polysyndactyly type Haas" RELATED [GARD:0004434] -synonym: "polysyndactyly, Haas type" EXACT [OMIM:186200, Orphanet:93405] -synonym: "Sd4" RELATED [OMIM:186200] -synonym: "SDTY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186200] -synonym: "syndactyly, type 4" RELATED [OMIM:186200] -synonym: "syndactyly, type IV" RELATED [MONDO:Lexical, OMIM:186200] +synonym: "polysyndactyly, Haas type" EXACT [DOID:0111818, icd11.foundation:75755208, OMIM:186200, Orphanet:93405] +synonym: "Sd4" RELATED [] +synonym: "SDTY4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "syndactyly, type 4" RELATED [] +synonym: "syndactyly, type IV" RELATED [MONDO:Lexical] xref: DOID:0111818 {source="MONDO:equivalentTo"} xref: GARD:4434 {source="MONDO:GARD"} xref: ICD10CM:Q70.4 {source="Orphanet:93405", source="Orphanet:93405/attributed", source="Orphanet:93405/ntbt"} @@ -177592,11 +177617,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "postaxial syndactyly with metacarpal synostosis" EXACT [Orphanet:93406] synonym: "SD5" EXACT ABBREVIATION [Orphanet:93406] -synonym: "SDTY5" RELATED ABBREVIATION [OMIM:186300] +synonym: "SDTY5" RELATED ABBREVIATION [] synonym: "syndactyly with associated metacarpal and metatarsal fusion" RELATED [GARD:0005089] -synonym: "syndactyly with metacarpal and metatarsal fusion" RELATED [OMIM:186300] -synonym: "syndactyly, type 5" RELATED [OMIM:186300] -synonym: "syndactyly, type V" RELATED [OMIM:186300] +synonym: "syndactyly with metacarpal and metatarsal fusion" RELATED [] +synonym: "syndactyly, type 5" RELATED [] +synonym: "syndactyly, type V" RELATED [] xref: DOID:0111819 {source="MONDO:equivalentTo"} xref: GARD:5089 {source="MONDO:GARD"} xref: ICD10CM:Q70.0 {source="Orphanet:93406/nd", source="Orphanet:93406/attributed", source="Orphanet:93406"} @@ -177624,8 +177649,8 @@ subset: orphanet_rare {source="Orphanet:3259"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hallux syndactyly ulnar polydactyly abnormal ear lobes" RELATED [GARD:0005090] -synonym: "Spel syndrome" RELATED [OMIM:186350] -synonym: "syndactyly-polydactyly-earlobe syndrome" RELATED [OMIM:186350] +synonym: "Spel syndrome" RELATED [] +synonym: "syndactyly-polydactyly-earlobe syndrome" RELATED [] xref: GARD:5090 {source="MONDO:GARD"} xref: MEDGEN:348333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566091 {source="MONDO:equivalentTo"} @@ -177641,10 +177666,10 @@ def: "A synostosis characterized by the fusion of carpal and tarsal bones, which subset: gard_rare {source="GARD:9863", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "calcaneonavicular coalition" EXACT [OMIM:186400] +synonym: "calcaneonavicular coalition" EXACT [DOID:14762, OMIM:186400] synonym: "multiple synostosis syndrome" EXACT [DOID:14762] synonym: "synostoses, tarsal, carpal and digital" EXACT [DOID:14762] -synonym: "synostoses, tarsal, carpal, and digital" RELATED [OMIM:186400] +synonym: "synostoses, tarsal, carpal, and digital" RELATED [] xref: DOID:14762 {source="MONDO:equivalentTo"} xref: GARD:9863 {source="MONDO:GARD"} xref: ICD9:755.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -177665,20 +177690,20 @@ def: "Any multiple synostoses syndrome in which the cause of the disease is a mu subset: gard_rare {source="GARD:15115", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness-symphalangism syndrome of Herrmann" RELATED [OMIM:186500] -synonym: "facioaudiosymphalangism syndrome" RELATED [OMIM:186500] -synonym: "multiple synostoses syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:186500] +synonym: "deafness-symphalangism syndrome of Herrmann" RELATED [] +synonym: "facioaudiosymphalangism syndrome" RELATED [] +synonym: "multiple synostoses syndrome 1" EXACT CLINGEN_LABEL [DOID:0081317, MONDO:Lexical, OMIM:186500] synonym: "multiple synostoses syndrome caused by mutation in NOG" EXACT [] synonym: "multiple synostoses syndrome caused by mutation in nog" EXACT [MONDO:design_pattern] -synonym: "multiple synostoses syndrome type 1" EXACT [MONDORULE:1, OMIM:186500] +synonym: "multiple synostoses syndrome type 1" EXACT [MONDORULE:1] synonym: "NOG multiple synostoses syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nog multiple synostoses syndrome" EXACT [MONDO:design_pattern] synonym: "symphalangism brachydactyly syndrome" RELATED [GARD:0003836] -synonym: "symphalangism-brachydactyly syndrome" RELATED [OMIM:186500] +synonym: "symphalangism-brachydactyly syndrome" RELATED [] synonym: "synostoses multiple with brachydactyly" RELATED [GARD:0003836] -synonym: "synostoses, multiple, with brachydactyly" RELATED [OMIM:186500] -synonym: "SYNS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186500] -synonym: "Wl syndrome" RELATED [OMIM:186500] +synonym: "synostoses, multiple, with brachydactyly" RELATED [] +synonym: "SYNS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Wl syndrome" RELATED [] xref: DOID:0081317 {source="MONDO:equivalentTo"} xref: GARD:15115 {source="MONDO:GARD"} xref: MEDGEN:90977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -177705,14 +177730,14 @@ subset: orphanet_rare {source="Orphanet:1275"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "brachydactyly elbow wrist dysplasia" RELATED [GARD:0000966] -synonym: "brachydactyly with Joint dysplasia" RELATED [OMIM:186550] +synonym: "brachydactyly with Joint dysplasia" RELATED [] synonym: "brachydactyly with joint dysplasia" RELATED [GARD:0000966] synonym: "brachydactyly-joint dysplasia syndrome" EXACT [Orphanet:1275] synonym: "carpal synostosis with dysplastic elbow joints and brachydactyly" RELATED [GARD:0000966] -synonym: "LBNBG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186550] -synonym: "LIEBENBERG syndrome" RELATED [OMIM:186550] +synonym: "LBNBG" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "LIEBENBERG syndrome" RELATED [] synonym: "Liebenberg syndrome" EXACT [GARD:0000966, MONDO:Lexical, OMIM:186550, Orphanet:1275] -synonym: "synostosis, carpal, with dysplastic elbow joints and brachydactyly" RELATED [OMIM:186550] +synonym: "synostosis, carpal, with dysplastic elbow joints and brachydactyly" RELATED [] xref: GARD:966 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="Orphanet:1275", source="Orphanet:1275/attributed", source="Orphanet:1275/ntbt"} xref: MEDGEN:396103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -177739,10 +177764,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:1412"} subset: orphanet_rare {source="Orphanet:1412"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "synostosis of talus and calcaneus with short stature" RELATED [OMIM:186570] +synonym: "synostosis of talus and calcaneus with short stature" RELATED [] synonym: "tarsal carpal coalition syndrome" RELATED [GARD:0009225] -synonym: "tarsal-carpal coalition syndrome" EXACT [MONDO:Lexical, OMIM:186570] -synonym: "TCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:186570] +synonym: "tarsal-carpal coalition syndrome" EXACT [DOID:0050789, icd11.foundation:1118132902, MONDO:Lexical, OMIM:186570, Orphanet:1412] +synonym: "TCC" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050789 {source="MONDO:equivalentTo"} xref: GARD:9225 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:1412", source="Orphanet:1412/attributed", source="Orphanet:1412/ntbt"} @@ -177787,19 +177812,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACUG" RELATED ABBREVIATION [GARD:0000304] synonym: "arthrocutaneouveal granulomatosis" EXACT [DOID:0050678, OMIM:186580] -synonym: "Blau syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:186580] -synonym: "BLAUS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:186580] -synonym: "early-onset sarcoidosis" EXACT [Orphanet:90341] -synonym: "EOS" EXACT ABBREVIATION [OMIM:609464] +synonym: "Blau syndrome" EXACT CLINGEN_LABEL [DOID:0050678, icd11.foundation:382488319, MONDO:Lexical, NCIT:C116794, OMIM:186580, Orphanet:90340] +synonym: "BLAUS" EXACT ABBREVIATION [DOID:0050678, MONDO:Lexical, OMIM:186580] +synonym: "early-onset sarcoidosis" EXACT [] +synonym: "EOS" EXACT ABBREVIATION [] synonym: "granulomatosis, familial juvenile systemic" EXACT [OMIM:186580] synonym: "granulomatosis, familial, Blau type" EXACT [OMIM:186580] synonym: "granulomatous inflammatory arthritis, dermatitis, and uveitis, familial" EXACT [OMIM:186580] synonym: "Jabs syndrome" EXACT [DOID:0050678, OMIM:186580] -synonym: "paediatric granulomatous arthritis" EXACT OMO:0003005 [] +synonym: "paediatric granulomatous arthritis" EXACT OMO:0003005 [icd11.foundation:382488319] synonym: "pediatric granulomatous arthritis" EXACT DEPRECATED [NCIT:C116794] -synonym: "sarcoidosis, early-onset" EXACT [OMIM:609464] +synonym: "sarcoidosis, early-onset" EXACT [OMIM:186580] synonym: "synovitis granulomatous with uveitis and cranial neuropathies" RELATED [GARD:0000304] -synonym: "synovitis, granulomatous, with uveitis and cranial neuropathies" RELATED [OMIM:186580] +synonym: "synovitis, granulomatous, with uveitis and cranial neuropathies" RELATED [] xref: DOID:0050678 {source="MONDO:equivalentTo"} xref: GARD:304 {source="MONDO:GARD"} xref: icd11.foundation:382488319 {source="MONDO:equivalentTo"} @@ -177844,8 +177869,8 @@ id: MONDO:0008525 name: syringomyelia, isolated subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "syringomyelia, isolated" EXACT [OMIM:186700] -synonym: "syringomyelia, noncommunicating isolated" RELATED [OMIM:186700] +synonym: "syringomyelia, isolated" EXACT [] +synonym: "syringomyelia, noncommunicating isolated" RELATED [] xref: MEDGEN:1622554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566084 {source="MONDO:equivalentTo"} xref: OMIM:186700 {source="MONDO:equivalentTo"} @@ -177868,7 +177893,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10062/talona id: MONDO:0008527 name: tarsal coalition synonym: "tarsal coalition" EXACT [OMIM:186850] -synonym: "tarsal fusion" RELATED [OMIM:186850] +synonym: "tarsal fusion" RELATED [] xref: ICD9:755.67 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:539393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D000070604 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} @@ -177898,8 +177923,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008530 name: teeth, odd shapes of -synonym: "conical teeth, multiple" RELATED [OMIM:187000] -synonym: "Lobodontia" RELATED [OMIM:187000] +synonym: "conical teeth, multiple" RELATED [] +synonym: "Lobodontia" RELATED [] synonym: "teeth, odd shapes of" EXACT [OMIM:187000] xref: MEDGEN:396097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566076 {source="MONDO:equivalentTo"} @@ -177910,17 +177935,17 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008531 name: obsolete T-complex locus TCP10B -synonym: "T-complex locus TCP10B" EXACT [MONDO:Lexical, OMIM:187030] -synonym: "TCP10B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187030] +synonym: "T-complex locus TCP10B" EXACT [MONDO:Lexical] +synonym: "TCP10B" RELATED ABBREVIATION [MONDO:Lexical] xref: OMIM:187030 {source="MONDO:obsoleteEquivalent"} is_obsolete: true [Term] id: MONDO:0008532 name: teeth present at birth -synonym: "Natal teeth" RELATED [OMIM:187050] -synonym: "teeth present AT birth" RELATED [OMIM:187050] -synonym: "teeth present at birth" EXACT [MONDO:ambiguous] +synonym: "Natal teeth" RELATED [] +synonym: "teeth present AT birth" RELATED [] +synonym: "teeth present at birth" EXACT [MONDO:ambiguous, OMIM:187050] synonym: "teeth present at birth (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000695 {source="MONDO:otherHierarchy"} xref: MEDGEN:10268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -177952,10 +177977,10 @@ subset: ordo_disorder {source="Orphanet:280774"} subset: orphanet_rare {source="Orphanet:280774"} subset: rare synonym: "GET" EXACT ABBREVIATION [Orphanet:280774] -synonym: "Hbt" RELATED [OMIM:187260] +synonym: "Hbt" RELATED [] synonym: "telangiectasia, generalised essential" RELATED OMO:0003005 [] -synonym: "telangiectasia, generalized essential" RELATED [OMIM:187260] -synonym: "telangiectasia, hereditary benign" RELATED [OMIM:187260] +synonym: "telangiectasia, generalized essential" RELATED [] +synonym: "telangiectasia, hereditary benign" RELATED [] xref: GARD:21087 {source="MONDO:GARD"} xref: icd11.foundation:236046211 {source="MONDO:equivalentTo", source="Orphanet:280774", source="https://orcid.org/0000-0002-4142-7153"} xref: MEDGEN:140803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -177975,12 +178000,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ENG-related Hereditary hemorrhagic telangiectasia" RELATED [GTR:AN0195329] synonym: "hereditary hemorrhagic telangiectasia type 1" EXACT [GTR:AN0097748] -synonym: "HHT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187300] +synonym: "HHT" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HHT1" EXACT ABBREVIATION [GTR:AN0097750, OMIM:187300] -synonym: "ORW disease" RELATED [OMIM:187300] +synonym: "ORW disease" RELATED [] synonym: "Osler Weber Rendu syndrome type 1" RELATED [GTR:AN0097757] -synonym: "Osler-Rendu-Weber disease" RELATED [OMIM:187300] -synonym: "telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER" RELATED [OMIM:187300] +synonym: "Osler-Rendu-Weber disease" RELATED [] +synonym: "telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER" RELATED [] synonym: "telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber" EXACT [MONDO:Lexical, OMIM:187300] synonym: "telangiectasia, hereditary hemorrhagic, type 1" EXACT CLINGEN_LABEL [OMIM:187300] xref: GTR:AN0097748 @@ -178013,7 +178038,7 @@ subset: gard_rare {source="GARD:19505", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:98575"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "telecanthus" EXACT [OMIM:187350] +synonym: "telecanthus" EXACT [icd11.foundation:210416501, OMIM:187350] xref: GARD:19505 {source="MONDO:GARD"} xref: ICD10CM:Q10.3 {source="Orphanet:98575", source="Orphanet:98575/attributed", source="Orphanet:98575/ntbt"} xref: icd11.foundation:210416501 {source="MONDO:equivalentTo"} @@ -178037,11 +178062,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arteritis cranialis" RELATED [GARD:0009615] synonym: "arteritis temporalis" RELATED [GARD:0009615] -synonym: "cranial arteritis" RELATED [OMIM:187360] +synonym: "cranial arteritis" RELATED [] synonym: "GCA" RELATED ABBREVIATION [GARD:0009615] -synonym: "Giant Cell Arteritis" EXACT [NORD:805] -synonym: "giant cell arteritis" EXACT [DOID:13375, ICD9CM:446.5, NCIT:C35065, OMIM:187360] -synonym: "Horton disease" EXACT [Orphanet:397] +synonym: "Giant Cell Arteritis" EXACT [DOID:13375, icd11.foundation:1929970386, NCIT:C35065, NORD:805, OMIM:187360, Orphanet:397] +synonym: "giant cell arteritis" EXACT [DOID:13375, icd11.foundation:1929970386, ICD9CM:446.5, NCIT:C35065, OMIM:187360, Orphanet:397] +synonym: "Horton disease" EXACT [icd11.foundation:1929970386, Orphanet:397] synonym: "Horton's arteritis" RELATED [GARD:0009615] synonym: "Horton's disease" EXACT [DOID:13375] synonym: "Horton's giant cell arteritis" RELATED [GARD:0009615] @@ -178049,8 +178074,8 @@ synonym: "Horton's temporal arteritis" RELATED [GARD:0009615] synonym: "Horton’s disease" RELATED [GARD:0009615] synonym: "Horton’s syndrome" RELATED [GARD:0009615] synonym: "inflammation of temporal artery" EXACT [] -synonym: "polymyalgia rheumatica" RELATED [OMIM:187360] -synonym: "temporal arteritis" EXACT [OMIM:187360, Orphanet:397] +synonym: "polymyalgia rheumatica" RELATED [] +synonym: "temporal arteritis" EXACT [DOID:13375, icd11.foundation:1929970386, NCIT:C35065, OMIM:187360, Orphanet:397] synonym: "temporal artery inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: DOID:13375 {source="MONDO:equivalentTo", source="EFO:1001209"} xref: EFO:1001209 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -178103,7 +178128,7 @@ subset: rare synonym: "anomalous insertion of extensor tendons of fingers" RELATED [GARD:0002597] synonym: "Hapnes Boman Skeie syndrome" RELATED [GARD:0002597] synonym: "Hapnes-Boman-Skeie syndrome" EXACT [Orphanet:3294] -synonym: "tendons, extensor, of fingers, anomalous insertion OF" RELATED [OMIM:187390] +synonym: "tendons, extensor, of fingers, anomalous insertion OF" RELATED [] xref: GARD:2597 {source="MONDO:GARD"} xref: MEDGEN:348302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566068 {source="MONDO:equivalentTo"} @@ -178119,7 +178144,7 @@ name: spermatic cord torsion def: "An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue." [NCIT:P378] synonym: "testicular torsion" EXACT [DOID:11996, NCIT:C26885, OMIM:187400] synonym: "torsion of testicle" EXACT [DOID:11996] -synonym: "torsion of testicular cord" RELATED [OMIM:187400] +synonym: "torsion of testicular cord" RELATED [] synonym: "torsion of testis" EXACT [DOID:11996, ICD9CM:608.2] xref: DOID:11996 {source="MONDO:equivalentTo"} xref: ICD10CM:N44.0 {source="DOID:11996"} @@ -178152,10 +178177,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:3303"} subset: orphanet_rare {source="Orphanet:3303"} subset: rare synonym: "Fallot tetralogy" RELATED [GARD:0002245] -synonym: "tetralogy of FALLOT" RELATED [OMIM:187500] -synonym: "tetralogy of fallot" EXACT [MONDO:Lexical, OMIM:187500] -synonym: "TOF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187500] -synonym: "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" EXACT [DOID:6419] +synonym: "tetralogy of FALLOT" RELATED [] +synonym: "tetralogy of fallot" EXACT [DOID:6419, ICD10CM:Q21.3, icd11.foundation:90973426, MONDO:Lexical, NCIT:C84505, OMIM:187500, Orphanet:3303] +synonym: "TOF" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" EXACT [DOID:6419, icd11.foundation:90973426] xref: DOID:6419 {source="MONDO:equivalentTo"} xref: GARD:2245 {source="MONDO:GARD"} xref: ICD10CM:Q21.3 {source="Orphanet:3303", source="MONDO:equivalentTo", source="DOID:6419", source="Orphanet:3303/e"} @@ -178207,7 +178232,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Sommer Hines syndrome" RELATED [GARD:0003707] synonym: "Sommer-Hines syndrome" EXACT [Orphanet:2564] -synonym: "tetramelic monodactyly" EXACT [OMIM:187510] +synonym: "tetramelic monodactyly" EXACT [OMIM:187510, Orphanet:2564] synonym: "tetramelic monodactyly with autosomal dominant inheritance" RELATED [GARD:0003707] xref: GARD:3707 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="Orphanet:2564", source="Orphanet:2564/attributed", source="Orphanet:2564/ntbt"} @@ -178245,17 +178270,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:1860"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lethal short-limbed Platyspondylic dwarfism, San Diego type" RELATED [OMIM:187600] -synonym: "Platyspondylic lethal skeletal dysplasia, San Diego type" RELATED [OMIM:187600] +synonym: "lethal short-limbed Platyspondylic dwarfism, San Diego type" RELATED [] +synonym: "Platyspondylic lethal skeletal dysplasia, San Diego type" RELATED [] synonym: "PLSD San Diego type" RELATED [GARD:0004889] synonym: "TD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:187600, Orphanet:1860] -synonym: "thanatophoric dwarfism" RELATED [OMIM:187600] +synonym: "thanatophoric dwarfism" RELATED [] synonym: "thanatophoric dwarfism 1" RELATED [GARD:0009295] synonym: "thanatophoric dwarfism type 1" EXACT [Orphanet:1860] -synonym: "thanatophoric dysplasia" RELATED [OMIM:187600] +synonym: "thanatophoric dysplasia" RELATED [] synonym: "thanatophoric dysplasia type I" RELATED [GARD:0009295] -synonym: "thanatophoric dysplasia, type 1" EXACT [NCIT:C98583] -synonym: "thanatophoric dysplasia, type I" RELATED [MONDO:Lexical, OMIM:187600] +synonym: "thanatophoric dysplasia, type 1" EXACT [NCIT:C98583, OMIM:187600] +synonym: "thanatophoric dysplasia, type I" RELATED [MONDO:Lexical] synonym: "type 1 thanatophoric dysplasia" EXACT [NCIT:C98583] xref: GARD:9295 {source="MONDO:GARD"} xref: ICD10CM:Q77.1 {source="Orphanet:1860", source="Orphanet:1860/attributed", source="Orphanet:1860/ntbt"} @@ -178285,17 +178310,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93274"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cloverleaf skull with thanatophoric dwarfism" RELATED [OMIM:187601] +synonym: "cloverleaf skull with thanatophoric dwarfism" RELATED [] synonym: "cloverleaf skull-micromelic bone dysplasia syndrome" EXACT [Orphanet:93274] synonym: "TD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:187601, Orphanet:93274] synonym: "thanatophoric dwarfism - cloverleaf skull" RELATED [GARD:0001402] synonym: "thanatophoric dwarfism type 2" EXACT [Orphanet:93274] synonym: "thanatophoric dwarfism-cloverleaf skull syndrome" EXACT [Orphanet:93274] synonym: "thanatophoric dysplasia type II" RELATED [GARD:0001402] -synonym: "thanatophoric dysplasia with Kleeblattschaedel" RELATED [OMIM:187601] -synonym: "thanatophoric dysplasia with straight femurs and cloverleaf skull" RELATED [OMIM:187601] -synonym: "thanatophoric dysplasia, type 2" EXACT [NCIT:C98584] -synonym: "thanatophoric dysplasia, type II" RELATED [MONDO:Lexical, OMIM:187601] +synonym: "thanatophoric dysplasia with Kleeblattschaedel" RELATED [] +synonym: "thanatophoric dysplasia with straight femurs and cloverleaf skull" RELATED [] +synonym: "thanatophoric dysplasia, type 2" EXACT [NCIT:C98584, OMIM:187601] +synonym: "thanatophoric dysplasia, type II" RELATED [MONDO:Lexical] synonym: "type 2 thanatophoric dysplasia" EXACT [NCIT:C98584] xref: GARD:1402 {source="MONDO:GARD"} xref: ICD10CM:Q77.1 {source="Orphanet:93274", source="Orphanet:93274/attributed", source="Orphanet:93274/ntbt"} @@ -178320,7 +178345,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1402/thanato id: MONDO:0008548 name: obsolete theophylline Biotransformation comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "theophylline Biotransformation" EXACT [OMIM:187650] +synonym: "theophylline Biotransformation" EXACT [] xref: OMIM:187650 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -178355,9 +178380,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant thoracolaryngopelvic dysplasia" RELATED [GARD:0005184] synonym: "Barnes syndrome" EXACT [OMIM:187760, Orphanet:3317] -synonym: "thoracolaryngopelvic dysplasia" EXACT [MONDO:Lexical, OMIM:187760] +synonym: "thoracolaryngopelvic dysplasia" EXACT [icd11.foundation:337990406, MONDO:Lexical, OMIM:187760, Orphanet:3317] synonym: "thoracopelvic dysostosis" EXACT [OMIM:187770] -synonym: "TLPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187760] +synonym: "TLPD" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:5184 {source="MONDO:GARD"} xref: ICD10CM:Q77.2 {source="Orphanet:3317", source="Orphanet:3317/attributed", source="Orphanet:3317/ntbt"} xref: icd11.foundation:337990406 {source="MONDO:equivalentTo"} @@ -178383,12 +178408,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant Glanzmann thrombasthenia" EXACT [DOID:0060691] synonym: "autosomal dominant thrombasthenia of Glanzmann and Naegeli" EXACT [DOID:0060691] -synonym: "BDPLT16" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187800] -synonym: "bleeding disorder, platelet-type, 16" RELATED [MONDO:Lexical, OMIM:187800] -synonym: "bleeding disorder, platelet-type, 16, autosomal dominant" EXACT [OMIM:187800, OMIM:genemap2] -synonym: "Glanzmann thrombasthenia, autosomal dominant" RELATED [OMIM:187800] -synonym: "platelet-type bleeding disorder 16" EXACT CLINGEN_LABEL [] -synonym: "thrombasthenia of Glanzmann and Naegeli, autosomal dominant" RELATED [OMIM:187800] +synonym: "BDPLT16" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "bleeding disorder, platelet-type, 16" RELATED [MONDO:Lexical] +synonym: "bleeding disorder, platelet-type, 16, autosomal dominant" EXACT [] +synonym: "Glanzmann thrombasthenia, autosomal dominant" RELATED [] +synonym: "platelet-type bleeding disorder 16" EXACT CLINGEN_LABEL [DOID:0060691] +synonym: "thrombasthenia of Glanzmann and Naegeli, autosomal dominant" RELATED [] xref: DOID:0060691 {source="MONDO:equivalentTo"} xref: ICD10CM:D69.4 {source="DOID:0060691"} xref: MEDGEN:1781222 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -178413,14 +178438,14 @@ subset: gard_rare {source="GARD:15117", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BDPLT17" EXACT ABBREVIATION [DOID:0111049, MONDO:Lexical, OMIM:187900] +synonym: "BDPLT17" EXACT ABBREVIATION [DOID:0111049, MONDO:Lexical, NCIT:C142084, OMIM:187900] synonym: "bleeding disorder, platelet-type 17" EXACT [NCIT:C142084] -synonym: "bleeding disorder, platelet-type, 17" RELATED [MONDO:Lexical, OMIM:187900] +synonym: "bleeding disorder, platelet-type, 17" RELATED [MONDO:Lexical] synonym: "GFI1B inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary thrombasthenia-thrombocytopenia" EXACT [DOID:0111049] synonym: "inherited bleeding disorder, platelet-type caused by mutation in GFI1B" EXACT [MONDO:design_pattern] -synonym: "platelet-type bleeding disorder 17" EXACT CLINGEN_LABEL [] -synonym: "thrombasthenia-thrombocytopenia, hereditary" RELATED [OMIM:187900] +synonym: "platelet-type bleeding disorder 17" EXACT CLINGEN_LABEL [DOID:0111049] +synonym: "thrombasthenia-thrombocytopenia, hereditary" RELATED [] xref: DOID:0111049 {source="MONDO:equivalentTo"} xref: GARD:15117 {source="MONDO:GARD"} xref: ICD10CM:D69.1 {source="DOID:0111049"} @@ -178444,11 +178469,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "THCYT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:187950] +synonym: "THCYT1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "thrombocythemia 1" EXACT [MONDO:Lexical, OMIM:187950] -synonym: "thrombocythemia type 1" EXACT [MONDORULE:1, OMIM:187950] -synonym: "thrombocythemia, somatic" EXACT [OMIM:187950, OMIM:genemap2] -synonym: "thrombocytosis 1" RELATED [OMIM:187950] +synonym: "thrombocythemia type 1" EXACT [MONDORULE:1] +synonym: "thrombocythemia, somatic" EXACT [] +synonym: "thrombocytosis 1" RELATED [] xref: MEDGEN:479301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:187950 {source="MONDO:equivalentTo"} xref: Orphanet:3318 {source="OMIM:187950"} @@ -178471,11 +178496,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:5191", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "THC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188000] -synonym: "thrombocytopenia 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:188000] +synonym: "THC2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thrombocytopenia 2" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C129035, OMIM:188000] synonym: "thrombocytopenia autosomal dominant 2" RELATED [GARD:0005191] -synonym: "thrombocytopenia type 2" EXACT [MONDORULE:1, OMIM:188000] -synonym: "thrombocytopenia, autosomal dominant, 2" RELATED [OMIM:188000] +synonym: "thrombocytopenia type 2" EXACT [MONDORULE:1] +synonym: "thrombocytopenia, autosomal dominant, 2" RELATED [] xref: GARD:5191 {source="MONDO:GARD"} xref: MEDGEN:349976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536519 {source="MONDO:equivalentTo"} @@ -178522,12 +178547,12 @@ subset: ordo_disorder {source="Orphanet:851"} subset: orphanet_rare {source="Orphanet:851"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 11q23 deletion syndrome" RELATED [OMIM:188025] +synonym: "chromosome 11q23 deletion syndrome" RELATED [] synonym: "Paris-Trousseau syndrome" RELATED [GARD:0004224] -synonym: "TCPT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188025] +synonym: "TCPT" RELATED ABBREVIATION [MONDO:Lexical] synonym: "thrombocytopenia Paris-Trousseau type" RELATED [GARD:0004224] -synonym: "thrombocytopenia, Paris-TROUSSEAU type" RELATED [MONDO:Lexical, OMIM:188025] -synonym: "thrombocytopenia, Paris-Trousseau type, Isolated cases" EXACT [OMIM:188025, OMIM:genemap2] +synonym: "thrombocytopenia, Paris-TROUSSEAU type" RELATED [MONDO:Lexical] +synonym: "thrombocytopenia, Paris-Trousseau type, Isolated cases" EXACT [] xref: GARD:4224 {source="MONDO:GARD"} xref: ICD10CM:D69.4 {source="Orphanet:851", source="Orphanet:851/attributed", source="Orphanet:851/ntbt"} xref: icd11.foundation:1441183910 {source="MONDO:equivalentTo"} @@ -178552,19 +178577,19 @@ subset: ordo_disorder {source="Orphanet:3002"} subset: orphanet_rare {source="Orphanet:3002"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AITP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188030] -synonym: "autoimmune thrombocytopenic purpura" EXACT [DOID:8924] +synonym: "AITP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "autoimmune thrombocytopenic purpura" EXACT [DOID:8924, icd11.foundation:364346400] synonym: "ideopath thrombocytopenic pur" RELATED [DOID:8924] synonym: "idiopathic purpura" RELATED [DOID:8924] -synonym: "idiopathic thrombocytopenia" EXACT [NCIT:C3446] -synonym: "idiopathic thrombocytopenia purpura" EXACT [NCIT:C3446] -synonym: "idiopathic thrombocytopenic purpura" EXACT [DOID:8924, OMIM:188030] -synonym: "immune thrombocytopenia" BROAD [Orphanet:3002] -synonym: "immune thrombocytopenic purpura" RELATED [OMIM:188030] -synonym: "ITP" EXACT ABBREVIATION [Orphanet:3002] +synonym: "idiopathic thrombocytopenia" EXACT [icd11.foundation:364346400, NCIT:C3446] +synonym: "idiopathic thrombocytopenia purpura" EXACT [icd11.foundation:364346400, NCIT:C3446] +synonym: "idiopathic thrombocytopenic purpura" EXACT [DOID:8924, icd11.foundation:364346400, NCIT:C3446, OMIM:188030] +synonym: "immune thrombocytopenia" BROAD [] +synonym: "immune thrombocytopenic purpura" RELATED [] +synonym: "ITP" EXACT ABBREVIATION [NCIT:C3446, OMIM:188030, Orphanet:3002] synonym: "primary thrombocytopenic purpura" EXACT [DOID:8924] synonym: "thrombocytopenic purpura autoimmune" RELATED [GARD:0005194] -synonym: "thrombocytopenic purpura, autoimmune" EXACT [MONDO:Lexical, OMIM:188030, Orphanet:3002] +synonym: "thrombocytopenic purpura, autoimmune" EXACT [MONDO:Lexical, OMIM:188030] synonym: "Werlhof's disease" RELATED [DOID:8924] xref: DOID:8924 {source="EFO:0007160", source="MONDO:equivalentTo"} xref: EFO:0007160 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -178607,18 +178632,18 @@ synonym: "factor II-related thrombophilia" RELATED [GARD:0010815] synonym: "hyperprothrombinemia" RELATED [GARD:0010815] synonym: "prothrombin 20210G>A thrombophilia" RELATED [GARD:0010815] synonym: "prothrombin G20210A thrombophilia" RELATED [GARD:0010815] -synonym: "prothrombin thrombophilia" EXACT [GARD:0010815] -synonym: "prothrombin-related thrombophilia" EXACT [GARD:0010815] -synonym: "THPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188050] -synonym: "thromboembolism, susceptibility to" RELATED [OMIM:188050, OMIM:genemap2] -synonym: "thrombophilia 1 due to thrombin defect" EXACT [OMIM:188050, OMIM:genemap2] -synonym: "thrombophilia due to factor 2 defect" RELATED [OMIM:188050] -synonym: "thrombophilia due to thrombin defect" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:188050] -synonym: "thrombosis, protection against" RELATED [OMIM:188050] -synonym: "Venous thromboembolism" BROAD [OMIM:188050] -synonym: "venous thromboembolism, susceptibility to" EXACT [OMIM:188050, OMIM:genemap2] -synonym: "venous thrombosis" RELATED [OMIM:188050] -synonym: "venous thrombosis, protection against" EXACT [OMIM:188050, OMIM:genemap2] +synonym: "prothrombin thrombophilia" EXACT [DOID:0080701, GARD:0010815] +synonym: "prothrombin-related thrombophilia" EXACT [DOID:0111907, GARD:0010815] +synonym: "THPH1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thromboembolism, susceptibility to" RELATED [] +synonym: "thrombophilia 1 due to thrombin defect" EXACT [] +synonym: "thrombophilia due to factor 2 defect" RELATED [] +synonym: "thrombophilia due to thrombin defect" EXACT CLINGEN_LABEL [DOID:0111907, MONDO:Lexical, OMIM:188050] +synonym: "thrombosis, protection against" RELATED [] +synonym: "Venous thromboembolism" BROAD [] +synonym: "venous thromboembolism, susceptibility to" EXACT [] +synonym: "venous thrombosis" RELATED [] +synonym: "venous thrombosis, protection against" EXACT [] xref: DOID:0080701 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0111907 {source="MONDO:equivalentTo"} xref: GARD:10815 {source="MONDO:GARD"} @@ -178641,19 +178666,19 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Activated Protein C resistance" RELATED [OMIM:188055] -synonym: "APC resistance" RELATED [MESH:D020016, OMIM:188055] -synonym: "Pccf deficiency" RELATED [OMIM:188055] -synonym: "Proc cofactor deficiency" RELATED [OMIM:188055] +synonym: "Activated Protein C resistance" RELATED [] +synonym: "APC resistance" RELATED [MESH:D020016] +synonym: "Pccf deficiency" RELATED [] +synonym: "Proc cofactor deficiency" RELATED [] synonym: "resistance, APC" RELATED [MESH:D020016] -synonym: "THPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188055] -synonym: "thrombophilia 2 due to activated protein C resistance" EXACT [OMIM:188055, OMIM:genemap2] -synonym: "thrombophilia 5" RELATED [OMIM:188055] -synonym: "thrombophilia due to ACTIVATED PROTEIN C resistance" RELATED [OMIM:188055] -synonym: "thrombophilia due to activated protein C resistance" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:188055] -synonym: "thrombophilia due to deficiency of Activated Protein C cofactor" RELATED [OMIM:188055] -synonym: "thrombophilia due to Factor 5 Leiden" RELATED [OMIM:188055] -synonym: "thrombophilia, susceptibility to, due to factor V Leiden" RELATED [OMIM:188055, OMIM:genemap2] +synonym: "THPH2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thrombophilia 2 due to activated protein C resistance" EXACT [] +synonym: "thrombophilia 5" RELATED [] +synonym: "thrombophilia due to ACTIVATED PROTEIN C resistance" RELATED [] +synonym: "thrombophilia due to activated protein C resistance" EXACT CLINGEN_LABEL [DOID:0111902, MONDO:Lexical, OMIM:188055] +synonym: "thrombophilia due to deficiency of Activated Protein C cofactor" RELATED [] +synonym: "thrombophilia due to Factor 5 Leiden" RELATED [] +synonym: "thrombophilia, susceptibility to, due to factor V Leiden" RELATED [] xref: DOID:0111902 {source="MONDO:equivalentTo"} xref: ICD9:289.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:396074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -178729,7 +178754,7 @@ synonym: "Thumb ankylosis with intellectual disability" RELATED [GARD:0004375] synonym: "Thumb ankylosis with mental retardation" RELATED DEPRECATED [GARD:0004375] synonym: "thumb stiff brachydactyly intellectual disability" RELATED [GARD:0005200] synonym: "thumb stiff brachydactyly mental retardation" RELATED DEPRECATED [GARD:0005200] -synonym: "thumbs, STIFF, with brachydactyly type A1 and developmental delay" RELATED [OMIM:188201] +synonym: "thumbs, STIFF, with brachydactyly type A1 and developmental delay" RELATED [] xref: GARD:4375 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:1078/attributed", source="Orphanet:1078/ntbt", source="Orphanet:1078"} xref: MEDGEN:396073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -178747,27 +178772,27 @@ subset: gard_rare {source="GARD:15118", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "22q deletion syndrome(s)" EXACT [NCIT:C2989] -synonym: "22q11.2 Deletion syndrome" EXACT [NCIT:C2989] -synonym: "Catch22" RELATED [OMIM:188400] -synonym: "chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:188400] +synonym: "22q11.2 Deletion syndrome" EXACT [DOID:11198, NCIT:C2989] +synonym: "Catch22" RELATED [] +synonym: "chromosome 22Q11.2 deletion syndrome" RELATED [] synonym: "DGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:188400] synonym: "DGS1" EXACT ABBREVIATION [NCIT:C2989] synonym: "Di-George syndrome" EXACT [GTR:AN1145678] synonym: "DiGeorge anomaly" EXACT [NCIT:C2989] -synonym: "DiGeorge sequence" RELATED EXCLUDE [DOID:11198] -synonym: "DiGeorge syndrome" EXACT [MONDO:Lexical, OMIM:188400] -synonym: "DiGeorge syndrome chromosome region" RELATED [OMIM:188400] +synonym: "DiGeorge sequence" RELATED EXCLUDE [] +synonym: "DiGeorge syndrome" EXACT [DOID:11198, MONDO:Lexical, NCIT:C2989, OMIM:188400] +synonym: "DiGeorge syndrome chromosome region" RELATED [] synonym: "DiGeorge syndrome type 1" EXACT [NCIT:C2989] synonym: "DiGeorge's syndrome" EXACT [DOID:11198, NCIT:C2989] -synonym: "hypoplasia of thymus and parathyroids" RELATED [OMIM:188400] +synonym: "hypoplasia of thymus and parathyroids" RELATED [] synonym: "pharyngeal pouch syndrome" EXACT [DOID:11198] -synonym: "Shprintzen syndrome" NARROW [NCIT:C2989] -synonym: "Sphrintzen" NARROW [NCIT:C2989] -synonym: "Takao VCF syndrome" RELATED [OMIM:188400] -synonym: "third and fourth pharyngeal pouch syndrome" RELATED [OMIM:188400] -synonym: "VCF" RELATED ABBREVIATION [NCIT:C2989] -synonym: "velo-cardio-facial syndrome" RELATED [NCIT:C2989] -synonym: "velocardiofacial syndrome" RELATED [NCIT:C2989] +synonym: "Shprintzen syndrome" NARROW [] +synonym: "Sphrintzen" NARROW [] +synonym: "Takao VCF syndrome" RELATED [] +synonym: "third and fourth pharyngeal pouch syndrome" RELATED [] +synonym: "VCF" RELATED ABBREVIATION [] +synonym: "velo-cardio-facial syndrome" RELATED [] +synonym: "velocardiofacial syndrome" RELATED [] xref: DOID:11198 {source="MONDO:equivalentTo"} xref: GARD:15118 {source="MONDO:GARD"} xref: GTR:AN1145678 @@ -178803,7 +178828,7 @@ subset: orphanet_rare {source="Orphanet:93953"} subset: rare synonym: "hereditary thyroglossal duct cyst" EXACT [MONDO:patterns/hereditary] synonym: "hereditary thyroglossal duct cysts" RELATED [GARD:0005204] -synonym: "thyroglossal duct cyst, familial" RELATED [OMIM:188455] +synonym: "thyroglossal duct cyst, familial" RELATED [] synonym: "thyroglossal duct cysts" RELATED [GARD:0005204] synonym: "thyroglossal duct cysts familial" RELATED [GARD:0005204] xref: GARD:5204 {source="MONDO:GARD"} @@ -178830,14 +178855,14 @@ subset: gard_rare {source="GARD:5206", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FTC" RELATED ABBREVIATION [GARD:0005206] -synonym: "NMTC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188470] +synonym: "NMTC2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "thyroid cancer, follicular" RELATED [GARD:0005206] synonym: "thyroid cancer, nonmedullary, 2" EXACT [MONDO:Lexical, OMIM:188470] -synonym: "thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation" EXACT [OMIM:188470, OMIM:genemap2] -synonym: "thyroid cancer, nonmedullary, type 2" EXACT [MONDORULE:1, OMIM:188470] +synonym: "thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation" EXACT [] +synonym: "thyroid cancer, nonmedullary, type 2" EXACT [MONDORULE:1] synonym: "thyroid carcinoma, follicular" RELATED [GARD:0005206] -synonym: "thyroid carcinoma, follicular, autosomal dominant, somatic mutation" EXACT [OMIM:188470, OMIM:genemap2] -synonym: "thyroid carcinoma, follicular, somatic" EXACT [OMIM:188470, OMIM:genemap2] +synonym: "thyroid carcinoma, follicular, autosomal dominant, somatic mutation" EXACT [] +synonym: "thyroid carcinoma, follicular, somatic" EXACT [] xref: GARD:5206 {source="MONDO:GARD"} xref: MEDGEN:904175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C572845 {source="MONDO:equivalentTo"} @@ -178855,12 +178880,12 @@ name: thyroid cancer, nonmedullary, 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "familial nonmedullary thyroid cancer, papillary" RELATED [OMIM:188550] -synonym: "NMTC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188550] -synonym: "nonmedullary thyroid carcinoma, papillary" RELATED [OMIM:188550] -synonym: "papillary carcinoma of thyroid" RELATED [OMIM:188550] +synonym: "familial nonmedullary thyroid cancer, papillary" RELATED [] +synonym: "NMTC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nonmedullary thyroid carcinoma, papillary" RELATED [] +synonym: "papillary carcinoma of thyroid" RELATED [] synonym: "thyroid cancer, nonmedullary, 1" EXACT [MONDO:Lexical, OMIM:188550] -synonym: "thyroid cancer, nonmedullary, type 1" EXACT [MONDORULE:1, OMIM:188550] +synonym: "thyroid cancer, nonmedullary, type 1" EXACT [MONDORULE:1] xref: MEDGEN:1648293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:188550 {source="MONDO:equivalentTo"} xref: Orphanet:146 {source="OMIM:188550"} @@ -178875,7 +178900,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008568 name: thyroid hormone plasma membrane transport defect -synonym: "hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport defect" EXACT [OMIM:188560] +synonym: "hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport defect" EXACT [] synonym: "thyroid hormone plasma membrane transport defect" EXACT [OMIM:188560] synonym: "thyroid hormone resistance due to T4 plasma Membrane transport defect" EXACT [OMIM:188560] xref: MEDGEN:396060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -178892,12 +178917,12 @@ id: MONDO:0008569 name: thyroid hormone resistance, generalized, autosomal dominant subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "GRTH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188570] -synonym: "Gthr" RELATED [OMIM:188570] -synonym: "hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones" RELATED [OMIM:188570] -synonym: "thyroid hormone resistance" BROAD [OMIM:188570, OMIM:genemap2] +synonym: "GRTH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Gthr" RELATED [] +synonym: "hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones" RELATED [] +synonym: "thyroid hormone resistance" BROAD [] synonym: "thyroid hormone resistance, generalized, autosomal dominant" EXACT [MONDO:Lexical, OMIM:188570] -synonym: "thyroid hormone unresponsiveness" RELATED [OMIM:188570] +synonym: "thyroid hormone unresponsiveness" RELATED [] xref: MEDGEN:424846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567934 {source="MONDO:equivalentTo"} xref: OMIM:188570 {source="MONDO:equivalentTo"} @@ -178916,8 +178941,8 @@ subset: predisposition synonym: "CACNA1S thyrotoxic periodic paralysis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "thyrotoxic periodic paralysis caused by mutation in CACNA1S" EXACT [MONDO:design_pattern] synonym: "thyrotoxic periodic paralysis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:188580] -synonym: "thyrotoxic periodic paralysis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:188580] -synonym: "TTPP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188580] +synonym: "thyrotoxic periodic paralysis, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "TTPP1" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:413199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:188580 {source="MONDO:equivalentTo"} xref: Orphanet:79102 {source="OMIM:188580"} @@ -178938,8 +178963,8 @@ subset: gard_rare {source="GARD:15120", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Blount disease, infantile" EXACT [OMIM:188700] -synonym: "Osteochondrosis deformans tibiae, infantile" RELATED [OMIM:188700] -synonym: "tibia vara, infantile" RELATED [OMIM:188700] +synonym: "Osteochondrosis deformans tibiae, infantile" RELATED [] +synonym: "tibia vara, infantile" RELATED [] xref: GARD:15120 {source="MONDO:GARD"} xref: MEDGEN:65091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:188700 {source="MONDO:equivalentTo"} @@ -178958,15 +178983,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:3332", source="Orphanet:988 subset: orphanet_rare {source="Orphanet:988"} subset: rare synonym: "absence of tibia with polydactyly" RELATED [GARD:0008309] -synonym: "absent tibia-polydactyly syndrome" EXACT [MONDO:0020306] -synonym: "hypoplastic or aplastic tibia with polydactyly" EXACT [OMIM:188740, OMIM:genemap2] -synonym: "hypoplastic tibiae-postaxial polydactyly syndrome" EXACT [MONDO:0018052] +synonym: "absent tibia-polydactyly syndrome" EXACT [DOID:0111564, MONDO:0020306, Orphanet:988] +synonym: "hypoplastic or aplastic tibia with polydactyly" EXACT [DOID:0111564] +synonym: "hypoplastic tibiae-postaxial polydactyly syndrome" EXACT [DOID:0111564, MONDO:0018052] synonym: "polydactyly with absent tibia" RELATED [GARD:0008309] -synonym: "THYP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:188740] +synonym: "THYP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "tibia, hypoplasia or aplasia of, with polydactyly" EXACT [MONDO:Lexical, OMIM:188740] -synonym: "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia" RELATED [OMIM:188740] -synonym: "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" RELATED [Orphanet:988] -synonym: "Werner mesomelic syndrome" EXACT [Orphanet:3332] +synonym: "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia" RELATED [] +synonym: "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" RELATED [] +synonym: "Werner mesomelic syndrome" EXACT [DOID:0111564] xref: DOID:0111564 {source="MONDO:equivalentTo"} xref: GARD:8309 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:3332", source="Orphanet:3332/attributed", source="Orphanet:3332/ntbt"} @@ -179001,9 +179026,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008574 name: obsolete Tl antigen -synonym: "histocompatibility 2, T-region locus 18" RELATED [OMIM:188850] -synonym: "Thymus leukemia antigen" RELATED [OMIM:188850] -synonym: "Tl antigen" EXACT [OMIM:188850] +synonym: "histocompatibility 2, T-region locus 18" RELATED [] +synonym: "Thymus leukemia antigen" RELATED [] +synonym: "Tl antigen" EXACT [] xref: OMIM:188850 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -179012,8 +179037,8 @@ id: MONDO:0008575 name: nicotine dependence def: "Physical and psychological dependence on nicotine." [NCIT:C54203] subset: otar {source="MONDO:OTAR"} -synonym: "nicotine addiction" EXACT [NCIT:C54203] -synonym: "tobacco use disorder" RELATED [DOID:0050742, MESH:D014029] +synonym: "nicotine addiction" EXACT [icd11.foundation:1699574100, NCIT:C54203] +synonym: "tobacco use disorder" RELATED [MESH:D014029] xref: DOID:0050742 {source="MONDO:equivalentTo", source="EFO:0003768"} xref: EFO:0003768 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F17 {source="DOID:0050742", source="MONDO:equivalentTo"} @@ -179034,8 +179059,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008576 name: toe, fifth, number of phalanges 1N -synonym: "toe, fifth, number of phalanges IN" RELATED [OMIM:189000] -synonym: "toe, fifth, number of phalanges type 1N" EXACT [MONDORULE:4, OMIM:189000] +synonym: "toe, fifth, number of phalanges IN" RELATED [] +synonym: "toe, fifth, number of phalanges type 1N" EXACT [MONDORULE:4] xref: MEDGEN:348255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:189000 {source="MONDO:equivalentTo"} xref: UMLS:C1861062 {source="MEDGEN:348255", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -179080,7 +179105,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008581 name: malposition of teeth with or without hypodontia/oligodontia -synonym: "ectopic eruption of teeth" RELATED [OMIM:189490] +synonym: "ectopic eruption of teeth" RELATED [] synonym: "malposition of teeth with or without hypodontia/oligodontia" EXACT [OMIM:189490] xref: MEDGEN:442888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:189490 {source="MONDO:equivalentTo"} @@ -179099,22 +179124,22 @@ subset: orphanet_rare {source="Orphanet:2228"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dysplasia of nails with hypodontia" RELATED [GARD:0005587] -synonym: "ectodermal dysplasia 3, Tooth/nail type" RELATED [OMIM:189500] -synonym: "ectodermal dysplasia 3, Witkop type" RELATED [OMIM:189500] +synonym: "ectodermal dysplasia 3, Tooth/nail type" RELATED [] +synonym: "ectodermal dysplasia 3, Witkop type" RELATED [] synonym: "HND" EXACT ABBREVIATION [NCIT:C40553] synonym: "hypodontia - dysplasia of nails" RELATED [GARD:0005587] synonym: "hypodontia and nail dysplasia" EXACT [NCIT:C40553] synonym: "hypodontia with nail dysplasia" EXACT [NCIT:C40553] -synonym: "hypodontia-dysplasia of nails syndrome" RELATED [Orphanet:2228] +synonym: "hypodontia-dysplasia of nails syndrome" RELATED [] synonym: "hypodontia-nail dysgenesis syndrome" EXACT [Orphanet:2228] synonym: "hypodontia-nail dysplasia" EXACT [NCIT:C40553] synonym: "hypoplastic enamel-onycholysis-hypohidrosis syndrome" EXACT [DOID:6678, MTH:NOCODE] -synonym: "nail dysplasia with hypodontia" RELATED [OMIM:189500] +synonym: "nail dysplasia with hypodontia" RELATED [] synonym: "TNS" RELATED ABBREVIATION [GARD:0005587] synonym: "tooth and nail syndrome" EXACT [DOID:6678, NCIT:C40553, Orphanet:2228] -synonym: "tooth-and-nail syndrome" RELATED [OMIM:189500] -synonym: "WITKOP syndrome" RELATED [OMIM:189500] -synonym: "Witkop syndrome" EXACT [Orphanet:2228] +synonym: "tooth-and-nail syndrome" RELATED [] +synonym: "WITKOP syndrome" RELATED [] +synonym: "Witkop syndrome" EXACT [NCIT:C40553, OMIM:189500, Orphanet:2228] synonym: "Witkop's syndrome" EXACT [DOID:6678] xref: DOID:6678 {source="MONDO:equivalentTo"} xref: GARD:5587 {source="MONDO:GARD"} @@ -179189,17 +179214,17 @@ subset: ordo_disorder {source="Orphanet:244242"} subset: orphanet_rare {source="Orphanet:244242"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hemolysis, elevated liver enzymes, and low platelet count" RELATED [OMIM:189800] +synonym: "hemolysis, elevated liver enzymes, and low platelet count" RELATED [] synonym: "hemolysis, elevated liver enzymes, low platelets in pregnancy" EXACT [Orphanet:244242] synonym: "hemolysis, elevated liver enzymes, lowered platelets" RELATED [GARD:0008528] synonym: "hemolysis-elevated liver enzymes-low platelet count syndrome" EXACT [NCIT:C84750] synonym: "hemolysis-elevated liver enzymes-low platelets syndrome" EXACT [Orphanet:244242] -synonym: "hypertension, pregnancy-induced" RELATED [OMIM:189800] -synonym: "PEE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:189800] -synonym: "PREECLAMPSIA/eclampsia 1" RELATED [MONDO:Lexical, OMIM:189800] -synonym: "PREG1" RELATED [OMIM:189800] +synonym: "hypertension, pregnancy-induced" RELATED [] +synonym: "PEE1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PREECLAMPSIA/eclampsia 1" RELATED [MONDO:Lexical] +synonym: "PREG1" RELATED [] synonym: "toxaemia of pregnancy" RELATED OMO:0003005 [] -synonym: "toxemia of pregnancy" RELATED [OMIM:189800] +synonym: "toxemia of pregnancy" RELATED [] xref: DOID:13133 {source="MONDO:equivalentTo", source="EFO:0007297"} xref: EFO:0007297 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:8528 {source="MONDO:GARD"} @@ -179230,14 +179255,14 @@ subset: ordo_disorder {source="Orphanet:1199"} subset: ordo_morphological_anomaly {source="Orphanet:1199"} subset: orphanet_rare {source="Orphanet:1199"} subset: rare -synonym: "Esophageal Atresia and/or Tracheoesophageal Fistula" EXACT [NORD:1108] +synonym: "Esophageal Atresia and/or Tracheoesophageal Fistula" EXACT [DOID:0080171, NORD:1108] synonym: "esophageal atresia and/or tracheoesophageal fistula" EXACT [DOID:0080171] -synonym: "esophageal atresia with or without tracheoesophageal fistula" RELATED [OMIM:189960] +synonym: "esophageal atresia with or without tracheoesophageal fistula" RELATED [] synonym: "te fistula" RELATED [GARD:0007792] synonym: "TEF" RELATED ABBREVIATION [GARD:0007792] synonym: "tracheoesophageal fistula" RELATED [GARD:0007792] synonym: "tracheoesophageal fistula with or without esohageal atresia" EXACT [DOID:0080171] -synonym: "tracheoesophageal fistula with or without esophageal atresia" RELATED [OMIM:189960] +synonym: "tracheoesophageal fistula with or without esophageal atresia" RELATED [] xref: DOID:0080171 {source="MONDO:equivalentTo"} xref: GARD:6381 {source="MONDO:GARD"} xref: ICD10CM:Q39.0 {source="Orphanet:1199", source="Orphanet:1199/e"} @@ -179264,7 +179289,7 @@ subset: ordo_disorder {source="Orphanet:3348"} subset: orphanet_rare {source="Orphanet:3348"} subset: rare synonym: "cartilaginous or bony projections into the tracheobronchial lumen" RELATED [GARD:0005235] -synonym: "tracheobronchopathia osteochondroplastica" EXACT [OMIM:189961] +synonym: "tracheobronchopathia osteochondroplastica" EXACT [icd11.foundation:1797446244, OMIM:189961, Orphanet:3348] synonym: "tracheobronchopathia osteoplastica" RELATED [GARD:0005235] synonym: "tracheopathia osteoplastica" EXACT [OMIM:189961, Orphanet:3348] xref: GARD:5235 {source="MONDO:GARD"} @@ -179290,13 +179315,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial trembling of the chin" EXACT [Orphanet:53372] synonym: "geniospasm" RELATED [GARD:0009501] -synonym: "geniospasm 1" RELATED [MONDO:Lexical, OMIM:190100] +synonym: "geniospasm 1" RELATED [MONDO:Lexical] synonym: "GSM 1" RELATED [GARD:0009501] -synonym: "GSM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190100] +synonym: "GSM1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hereditary chin myoclonus" EXACT [Orphanet:53372] synonym: "hereditary chin tremor/myoclonus" RELATED [GARD:0009501] synonym: "hereditary chin-trembling" EXACT [Orphanet:53372] -synonym: "trembling Chin" RELATED [OMIM:190100] +synonym: "trembling Chin" RELATED [] xref: GARD:9501 {source="MONDO:GARD"} xref: ICD10CM:G25.3 {source="Orphanet:53372/attributed", source="Orphanet:53372/ntbt", source="Orphanet:53372"} xref: MEDGEN:348757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -179324,14 +179349,14 @@ name: tremor, hereditary essential, 1 def: "Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "DRD3 essential tremor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "essential tremor caused by mutation in DRD3" EXACT [MONDO:design_pattern] -synonym: "essential tremor, hereditary, 1" EXACT [OMIM:190300, OMIM:genemap2] -synonym: "ETM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190300] +synonym: "essential tremor, hereditary, 1" EXACT [] +synonym: "ETM1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "FET1" RELATED ABBREVIATION [GARD:0005244] synonym: "tremor familial essential, 1" RELATED [GARD:0005244] synonym: "tremor hereditary essential, 1" RELATED [GARD:0005244] -synonym: "tremor, familial essential, 1" RELATED [OMIM:190300] +synonym: "tremor, familial essential, 1" RELATED [] synonym: "tremor, hereditary essential, 1" EXACT [MONDO:Lexical, OMIM:190300] -synonym: "tremor, hereditary essential, type 1" EXACT [MONDORULE:1, OMIM:190300] +synonym: "tremor, hereditary essential, type 1" EXACT [MONDORULE:1] xref: DOID:0111428 {source="MONDO:equivalentTo"} xref: MEDGEN:349909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536545 {source="MONDO:equivalentTo"} @@ -179355,7 +179380,7 @@ subset: rare synonym: "Neuhauser Daly Magnelli syndrome" RELATED [GARD:0003948] synonym: "Neuhauser-Daly-Magnelli syndrome" EXACT [Orphanet:3350] synonym: "tremor nystagmus duodenal ulcer" RELATED [GARD:0003948] -synonym: "tremor, NYSTAGMUS, and duodenal ulcer" RELATED [OMIM:190310] +synonym: "tremor, NYSTAGMUS, and duodenal ulcer" RELATED [] xref: GARD:3948 {source="MONDO:GARD"} xref: MEDGEN:349908 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536406 {source="MONDO:equivalentTo"} @@ -179378,12 +179403,12 @@ subset: rare synonym: "enamel hypoplasia and hypocalcification with associated strikingly curly hair" RELATED [GARD:0007799] synonym: "kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails" RELATED [GARD:0005252] synonym: "TDO" EXACT ABBREVIATION [MONDO:Lexical, OMIM:190320] -synonym: "TDO syndrome" EXACT [OMIM:190320, Orphanet:3352] +synonym: "TDO syndrome" EXACT [DOID:0111565, OMIM:190320, Orphanet:3352] synonym: "TDO syndrome 1" RELATED [GARD:0005252] synonym: "Tricho Dento Osseous Syndrome" EXACT [NORD:1786] synonym: "Tricho-dento-osseous syndrome 1" RELATED [GARD:0005252] synonym: "TRICHODENTOOSSEOUS syndrome" EXACT [MONDO:Lexical, OMIM:190320] -synonym: "trichodontoosseous syndrome" EXACT [OMIM:190320, OMIM:genemap2] +synonym: "trichodontoosseous syndrome" EXACT [DOID:0111565] xref: DOID:0111565 {source="MONDO:equivalentTo"} xref: GARD:7799 {source="MONDO:GARD"} xref: ICD10CM:Q82.4 {source="Orphanet:3352/attributed", source="Orphanet:3352/ntbt", source="Orphanet:3352"} @@ -179411,8 +179436,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7799/tricho- id: MONDO:0008593 name: trichomegaly subset: otar {source="MONDO:OTAR"} -synonym: "eyelashes, long" RELATED [OMIM:190330] -synonym: "TCMGLY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190330] +synonym: "eyelashes, long" RELATED [] +synonym: "TCMGLY" RELATED ABBREVIATION [MONDO:Lexical] synonym: "trichomegaly" EXACT [MONDO:Lexical, OMIM:190330] xref: MEDGEN:163139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:190330 {source="MONDO:equivalentTo"} @@ -179430,13 +179455,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:538756"} subset: orphanet_rare {source="Orphanet:538756"} subset: rare -synonym: "discoid fibromas, familial multiple" RELATED [MONDO:Lexical, OMIM:190340] +synonym: "discoid fibromas, familial multiple" RELATED [MONDO:Lexical] synonym: "familial multiple trichodiscomas" RELATED [GARD:0008479] synonym: "FMDF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:190340] synonym: "hereditary multiple trichodiscomas" RELATED [GARD:0008479] synonym: "small benign fibrovascular tumor of the dermal part of the hair disk" RELATED [GARD:0008479] synonym: "small benign fibrovascular tumour of the dermal part of the hair disc" RELATED OMO:0003005 [] -synonym: "trichodiscomas, familial multiple" RELATED [OMIM:190340] +synonym: "trichodiscomas, familial multiple" RELATED [] xref: GARD:8479 {source="MONDO:GARD"} xref: MEDGEN:348201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536847 {source="MONDO:equivalentTo"} @@ -179470,18 +179495,18 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1787"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Giedion syndrome" RELATED [GARD:0007800] -synonym: "Sugio-Kajii syndrome" EXACT [DOID:14743] +synonym: "Sugio-Kajii syndrome" EXACT [] synonym: "trichorhinophalangeal dysplasia (syndrome) types 1/3" EXACT [PMID:28426188] -synonym: "trichorhinophalangeal dysplasia type I" EXACT [DOID:14743, MTH:NOCODE] +synonym: "trichorhinophalangeal dysplasia type I" EXACT [MTH:NOCODE] synonym: "trichorhinophalangeal dysplasia types 1/3" EXACT [PMID:28426188] -synonym: "trichorhinophalangeal syndrome type 1" EXACT [GARD:0007800] -synonym: "trichorhinophalangeal syndrome type I" EXACT CLINGEN_LABEL [] +synonym: "trichorhinophalangeal syndrome type 1" EXACT [DOID:14743, GARD:0007800] +synonym: "trichorhinophalangeal syndrome type I" EXACT CLINGEN_LABEL [DOID:14743, NCIT:C75109] synonym: "trichorhinophalangeal syndrome, type 1" EXACT [OMIM:190350] -synonym: "trichorhinophalangeal syndrome, type I" EXACT [MONDO:Lexical, OMIM:190350] +synonym: "trichorhinophalangeal syndrome, type I" EXACT [MONDO:Lexical] synonym: "TRPS 1" EXACT [OMIM:190350] synonym: "TRPS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:190350] synonym: "type I trichorhinophalangeal syndrome" EXACT [DOID:14743] -synonym: "type III trichorhinophalangeal syndrome" EXACT [DOID:14743] +synonym: "type III trichorhinophalangeal syndrome" EXACT [] xref: DOID:14743 {source="MONDO:equivalentTo"} xref: GARD:7800 {source="MONDO:GARD"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -179511,13 +179536,13 @@ def: "OBSOLETE. A trichorhinophalangeal syndrome caused by mutations in TRPS1 ch subset: gard_rare {source="GARD:7802", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1789"} subset: otar {source="MONDO:OTAR"} -synonym: "Sugio-Kajii syndrome" RELATED [OMIM:190351] +synonym: "Sugio-Kajii syndrome" RELATED [] synonym: "trichorhinophalangeal syndrome type 3" EXACT [GARD:0007802] synonym: "Trichorhinophalangeal Syndrome Type III" EXACT [NORD:1789] synonym: "trichorhinophalangeal syndrome, type 3" EXACT [MONDO:Lexical] -synonym: "trichorhinophalangeal syndrome, type III" EXACT [OMIM:190351] +synonym: "trichorhinophalangeal syndrome, type III" EXACT [] synonym: "TRPS 3" EXACT [GARD:0007802] -synonym: "TRPS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:190351] +synonym: "TRPS3" EXACT ABBREVIATION [MONDO:Lexical] xref: DOID:0080376 {source="MONDO:obsoleteEquivalent"} xref: GARD:7802 {source="MONDO:obsoleteEquivalent", source="MONDO:GARD"} xref: MEDGEN:349899 {source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN"} @@ -179545,7 +179570,7 @@ subset: orphanet_rare {source="Orphanet:3361"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "trichodysplasia xeroderma" RELATED [GARD:0005261] -synonym: "trichodysplasia-xeroderma" RELATED [OMIM:190360] +synonym: "trichodysplasia-xeroderma" RELATED [] xref: GARD:5261 {source="MONDO:GARD"} xref: MEDGEN:349898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566032 {source="MONDO:equivalentTo"} @@ -179565,11 +179590,11 @@ subset: orphanet_rare {source="Orphanet:221091"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "neuralgia of trigeminal nerve" EXACT [MONDO:design_pattern] -synonym: "Tic douloureux" RELATED [OMIM:190400] +synonym: "Tic douloureux" RELATED [] synonym: "trifacial neuralgia" EXACT [DOID:12098] synonym: "trifocal neuralgia" EXACT [DOID:12098] synonym: "trigeminal nerve neuralgia" EXACT [MONDO:patterns/location] -synonym: "trigeminal neuralgia" EXACT [DOID:12098, ICD9CM:350.1, OMIM:190400] +synonym: "trigeminal neuralgia" EXACT [DOID:12098, ICD10CM:G50.0, icd11.foundation:1803581281, ICD9CM:350.1, OMIM:190400, Orphanet:221091] xref: DOID:12098 {source="MONDO:equivalentTo", source="EFO:1001219"} xref: EFO:1001219 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7805 {source="MONDO:GARD"} @@ -179615,7 +179640,7 @@ id: MONDO:0008601 name: triglyceride storage disease, type 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "triglyceride storage disease, type I" RELATED [OMIM:190420] +synonym: "triglyceride storage disease, type I" RELATED [] xref: MEDGEN:349897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566031 {source="MONDO:equivalentTo"} xref: OMIM:190420 {source="MONDO:equivalentTo"} @@ -179627,7 +179652,7 @@ id: MONDO:0008602 name: triglyceride storage disease, type 2 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "triglyceride storage disease, type II" RELATED [OMIM:190430] +synonym: "triglyceride storage disease, type II" RELATED [] xref: MEDGEN:349896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566030 {source="MONDO:equivalentTo"} xref: OMIM:190430 {source="MONDO:equivalentTo"} @@ -179641,12 +179666,12 @@ def: "Any isolated trigonocephaly in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:18558", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "craniosynostosis, metopic" RELATED [OMIM:190440] +synonym: "craniosynostosis, metopic" RELATED [] synonym: "FGFR1 isolated trigonocephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated trigonocephaly caused by mutation in FGFR1" EXACT [MONDO:design_pattern] -synonym: "TRIGNO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190440] +synonym: "TRIGNO1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "trigonocephaly 1" EXACT [MONDO:Lexical, OMIM:190440] -synonym: "trigonocephaly type 1" EXACT [MONDORULE:1, OMIM:190440] +synonym: "trigonocephaly type 1" EXACT [MONDORULE:1] xref: GARD:18558 {source="MONDO:GARD"} xref: MEDGEN:98473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:190440 {source="MONDO:equivalentTo"} @@ -179689,8 +179714,8 @@ subset: gard_rare {source="GARD:242", source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:3133"} subset: rare synonym: "polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence" RELATED [GARD:0000242] -synonym: "triphalangeal thumbs and dislocation of patella" RELATED [OMIM:190650] -synonym: "triphalangeal thumbs-dislocation of patella syndrome" EXACT [Orphanet:3133] +synonym: "triphalangeal thumbs and dislocation of patella" RELATED [] +synonym: "triphalangeal thumbs-dislocation of patella syndrome" EXACT [] xref: GARD:242 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:3133", source="Orphanet:3133/attributed", source="Orphanet:3133/ntbt"} xref: MEDGEN:348711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -179712,11 +179737,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2947"} subset: orphanet_rare {source="Orphanet:2947"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Carnevale-Hernández-del Castillo syndrome" EXACT [Orphanet:2947] +synonym: "Carnevale-Hernández-del Castillo syndrome" EXACT [] synonym: "triphalangeal thumb and brachy-ectrodactyly syndrome" RELATED [GARD:0005290] synonym: "triphalangeal thumb and brachyectrodactyly syndrome" RELATED [GARD:0005290] synonym: "triphalangeal thumbs brachyectrodactyly" RELATED [GARD:0005290] -synonym: "triphalangeal thumbs with brachyectrodactyly" RELATED [OMIM:190680] +synonym: "triphalangeal thumbs with brachyectrodactyly" RELATED [] xref: GARD:5290 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:2947/attributed", source="Orphanet:2947/ntbt", source="Orphanet:2947"} xref: MEDGEN:348710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -179736,21 +179761,21 @@ subset: ordo_malformation_syndrome {source="Orphanet:870"} subset: orphanet_rare {source="Orphanet:870"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "complete trisomy 21 syndrome" NARROW [DOID:14250] -synonym: "Down syndrome" EXACT [NCIT:C2993, OMIM:190685] -synonym: "Down syndrome chromosome region" RELATED [OMIM:190685] -synonym: "Down syndrome critical region" RELATED [OMIM:190685] -synonym: "Down syndrome, Isolated cases" EXACT [OMIM:190685, OMIM:genemap2] -synonym: "Down's syndrome" EXACT [DOID:14250] +synonym: "complete trisomy 21 syndrome" NARROW [] +synonym: "Down syndrome" EXACT [DOID:14250, icd11.foundation:1624623908, NCIT:C2993, OMIM:190685, Orphanet:870] +synonym: "Down syndrome chromosome region" RELATED [] +synonym: "Down syndrome critical region" RELATED [] +synonym: "Down syndrome, Isolated cases" EXACT [] +synonym: "Down's syndrome" EXACT [DOID:14250, NCIT:C2993] synonym: "Down's syndrome - trisomy 21" EXACT [DOID:14250] -synonym: "Downs syndrome" EXACT [DOID:14250, NCIT:C2993] +synonym: "Downs syndrome" EXACT [DOID:14250] synonym: "G trisomy" EXACT [DOID:14250] -synonym: "leukemia, megakaryoblastic, of Down syndrome" RELATED [OMIM:190685] -synonym: "leukemia, megakaryoblastic, with or without Down syndrome, somatic" EXACT [OMIM:190685, OMIM:genemap2] -synonym: "transient myeloproliferative disorder of Down syndrome" RELATED [OMIM:190685] -synonym: "trisomy 21" NARROW [NCIT:C2993, OMIM:190685, Orphanet:870] +synonym: "leukemia, megakaryoblastic, of Down syndrome" RELATED [] +synonym: "leukemia, megakaryoblastic, with or without Down syndrome, somatic" EXACT [] +synonym: "transient myeloproliferative disorder of Down syndrome" RELATED [] +synonym: "trisomy 21" NARROW [] synonym: "trisomy 21 (Down syndrome)" EXACT [NCIT:C2993] -synonym: "trisomy 21 syndrome" NARROW [DOID:14250, NCIT:C2993] +synonym: "trisomy 21 syndrome" NARROW [] xref: DOID:14250 {source="EFO:0001064", source="MONDO:equivalentTo"} xref: EFO:0001064 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:Q90 {source="DOID:14250"} @@ -179795,7 +179820,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008609 name: Tristichiasis -synonym: "eyelashes, three rows of" RELATED [OMIM:190800] +synonym: "eyelashes, three rows of" RELATED [] synonym: "Tristichiasis" EXACT [OMIM:190800] xref: MEDGEN:349889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:190800 {source="MONDO:equivalentTo"} @@ -179812,15 +179837,15 @@ subset: ordo_disorder {source="Orphanet:88629"} subset: orphanet_rare {source="Orphanet:88629"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "blue color blindness" EXACT [Orphanet:88629] -synonym: "blue colorblindness" RELATED [OMIM:190900] -synonym: "colorblindness, tritan" RELATED [OMIM:190900] -synonym: "colorblindness, tritanopic" RELATED [OMIM:190900] +synonym: "blue color blindness" EXACT [DOID:11661] +synonym: "blue colorblindness" RELATED [] +synonym: "colorblindness, tritan" RELATED [] +synonym: "colorblindness, tritanopic" RELATED [] synonym: "congenital tritanopia" EXACT [Orphanet:88629] -synonym: "tritan color blindness" EXACT [Orphanet:88629] -synonym: "tritan colour blindness" EXACT OMO:0003005 [] +synonym: "tritan color blindness" EXACT [] +synonym: "tritan colour blindness" EXACT OMO:0003005 [Orphanet:88629] synonym: "tritan defect" EXACT [DOID:11661, ICD9CM:368.53] -synonym: "tritanopia" EXACT [DOID:11661, OMIM:190900] +synonym: "tritanopia" EXACT [DOID:11661, OMIM:190900, Orphanet:88629] xref: DOID:11661 {source="MONDO:equivalentTo"} xref: GARD:16768 {source="MONDO:GARD"} xref: ICD10CM:H53.5 {source="Orphanet:88629/inclusion", source="Orphanet:88629", source="Orphanet:88629/ntbt"} @@ -179848,7 +179873,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aplasia of trochlea of the humerus" RELATED [GARD:0002750] synonym: "trochlea of the humerus aplasia of" RELATED [GARD:0002750] -synonym: "trochlea of the HUMERUS, aplasia OF" RELATED [OMIM:191000] +synonym: "trochlea of the HUMERUS, aplasia OF" RELATED [] xref: GARD:2750 {source="MONDO:GARD"} xref: ICD10CM:Q74.0 {source="Orphanet:3383/attributed", source="Orphanet:3383/ntbt", source="Orphanet:3383"} xref: MEDGEN:348185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -179870,15 +179895,15 @@ def: "Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)." [NCIT:C75122] subset: gard_rare {source="GARD:15121", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "TSC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:191100] +synonym: "TSC1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TSC1 tuberous sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "tuberose sclerosis" RELATED [OMIM:191100] -synonym: "tuberous sclerosis 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:191100] +synonym: "tuberose sclerosis" RELATED [] +synonym: "tuberous sclerosis 1" EXACT CLINGEN_LABEL [DOID:0080324, MONDO:Lexical, NCIT:C75122, OMIM:191100] synonym: "tuberous sclerosis caused by mutation in TSC1" EXACT [MONDO:design_pattern] -synonym: "tuberous sclerosis Complex" RELATED [OMIM:191100] -synonym: "tuberous sclerosis type 1" EXACT [MONDORULE:1, OMIM:191100] +synonym: "tuberous sclerosis Complex" RELATED [] +synonym: "tuberous sclerosis type 1" EXACT [MONDORULE:1] synonym: "tuberous sclerosis, type 1" RELATED [GARD:0005380] -synonym: "tuberous sclerosis-1" EXACT [OMIM:191100, OMIM:genemap2] +synonym: "tuberous sclerosis-1" EXACT [] xref: DOID:0080324 {source="MONDO:equivalentTo"} xref: GARD:15121 {source="MONDO:GARD"} xref: MEDGEN:344288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -179910,11 +179935,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008614 name: suppressor of tumorigenicity 3 -synonym: "cervical carcinoma" RELATED [OMIM:191181, OMIM:genemap2] -synonym: "cervical carcinoma, tumor-suppressor Gene involved 1N" RELATED [OMIM:191181] +synonym: "cervical carcinoma" RELATED [] +synonym: "cervical carcinoma, tumor-suppressor Gene involved 1N" RELATED [] synonym: "ST3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:191181] synonym: "suppressor of tumorigenicity 3" EXACT [MONDO:Lexical, OMIM:191181] -synonym: "tumor-suppressor Gene, Hela cell type" RELATED [OMIM:191181] +synonym: "tumor-suppressor Gene, Hela cell type" RELATED [] xref: MEDGEN:348673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:191181 {source="MONDO:equivalentTo"} xref: UMLS:C1860658 {source="MEDGEN:348673", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -179924,9 +179949,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008615 name: tune deafness -synonym: "amusia, congenital" RELATED [OMIM:191200] -synonym: "Dysmelodia" RELATED [OMIM:191200] -synonym: "tone deafness" RELATED [OMIM:191200] +synonym: "amusia, congenital" RELATED [] +synonym: "Dysmelodia" RELATED [] +synonym: "tone deafness" RELATED [] synonym: "tune deafness" EXACT [OMIM:191200] xref: ICD9:389.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:349862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -179940,8 +179965,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008616 name: obsolete twinning due to superfetation comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "superfetation twinning" RELATED [OMIM:191250] -synonym: "twinning due to superfetation" EXACT [OMIM:191250] +synonym: "superfetation twinning" RELATED [] +synonym: "twinning due to superfetation" EXACT [] xref: MESH:C566018 {source="MONDO:obsoleteEquivalent"} xref: OMIM:191250 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -179953,8 +179978,8 @@ id: MONDO:0008617 name: inflammatory bowel disease 11 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22." [DOID:0110894, PMID:8841195] synonym: "IBD11" EXACT ABBREVIATION [DOID:0110894, MONDO:Lexical, OMIM:191390] -synonym: "inflammatory bowel disease 11" EXACT [MONDO:Lexical, OMIM:191390] -synonym: "inflammatory bowel disease type 11" EXACT [DOID:0110894, MONDORULE:2] +synonym: "inflammatory bowel disease 11" EXACT [DOID:0110894, MONDO:Lexical, OMIM:191390] +synonym: "inflammatory bowel disease type 11" EXACT [MONDORULE:2] xref: DOID:0110894 {source="MONDO:equivalentTo"} xref: MEDGEN:393069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567154 {source="MONDO:equivalentTo"} @@ -179976,11 +180001,11 @@ subset: orphanet_rare {source="Orphanet:2634"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hypoplasia of ulna and fibula" RELATED [GARD:0003555] -synonym: "mesomelic dwarfism of hypoplastic ulna and fibula type" RELATED [OMIM:191400] +synonym: "mesomelic dwarfism of hypoplastic ulna and fibula type" RELATED [] synonym: "mesomelic dysplasia Reinhardt-Pfeiffer type" RELATED [GARD:0003555] synonym: "Reinhardt-Pfeiffer mesomelic dysplasia" EXACT [OMIM:191400, Orphanet:2634] synonym: "Reinhardt-Pfeiffer syndrome" EXACT [Orphanet:2634] -synonym: "ulna and fibula, hypoplasia OF" RELATED [OMIM:191400] +synonym: "ulna and fibula, hypoplasia OF" RELATED [] xref: GARD:3555 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:2634", source="Orphanet:2634/attributed", source="Orphanet:2634/ntbt"} xref: icd11.foundation:1393171517 {source="MONDO:equivalentTo"} @@ -180007,11 +180032,11 @@ subset: orphanet_rare {source="Orphanet:1837"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna" RELATED [GARD:0004740] -synonym: "metaphyseal chondrodysplasia, Rosenberg type" RELATED [OMIM:191420] +synonym: "metaphyseal chondrodysplasia, Rosenberg type" RELATED [] synonym: "metaphyseal chondroplasia Rosenberg type" RELATED [GARD:0004740] synonym: "Rosenberg Lohr syndrome" RELATED [GARD:0004740] synonym: "Rosenberg-Lohr syndrome" EXACT [Orphanet:1837] -synonym: "ulna metaphyseal dysplasia syndrome" EXACT [OMIM:191420] +synonym: "ulna metaphyseal dysplasia syndrome" EXACT [icd11.foundation:1343160916, OMIM:191420] xref: GARD:4740 {source="MONDO:GARD"} xref: ICD10CM:Q78.5 {source="Orphanet:1837/attributed", source="Orphanet:1837/ntbt", source="Orphanet:1837"} xref: icd11.foundation:1343160916 {source="MONDO:equivalentTo"} @@ -180041,9 +180066,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Fryns Hofkens Fabry syndrome" RELATED [GARD:0002408] synonym: "Fryns-Hofkens-Fabry syndrome" EXACT [Orphanet:2497] -synonym: "ulna hypoplasia" RELATED [Orphanet:2497] -synonym: "ulnar hypoplasia" RELATED [OMIM:191440] -synonym: "upper limb mesomelic dysplasia" EXACT [OMIM:191440] +synonym: "ulna hypoplasia" RELATED [] +synonym: "ulnar hypoplasia" RELATED [] +synonym: "upper limb mesomelic dysplasia" EXACT [icd11.foundation:2013121778, OMIM:191440] xref: GARD:2408 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:2497/attributed", source="Orphanet:2497/ntbt", source="Orphanet:2497"} xref: icd11.foundation:2013121778 {source="MONDO:equivalentTo"} @@ -180069,9 +180094,9 @@ subset: orphanet_rare {source="Orphanet:1410"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cheveux incoiffables" RELATED [GARD:0005404] -synonym: "pili trianguli et canaliculi" EXACT [OMIM:191480, Orphanet:1410] +synonym: "pili trianguli et canaliculi" EXACT [icd11.foundation:244892708, Orphanet:1410] synonym: "spun glass hair" RELATED [GARD:0005404] -synonym: "uncombable hair syndrome" EXACT [OMIM:191480] +synonym: "uncombable hair syndrome" EXACT [icd11.foundation:244892708, Orphanet:1410] synonym: "unmanageable hair syndrome" RELATED [GARD:0005404] xref: GARD:5404 {source="MONDO:GARD"} xref: ICD10CM:Q84.1 {source="Orphanet:1410/attributed", source="Orphanet:1410/ntbt", source="Orphanet:1410"} @@ -180097,7 +180122,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bork Stender Schmidt syndrome" RELATED [GARD:0000938] synonym: "Bork syndrome" EXACT [OMIM:191482, Orphanet:1264] -synonym: "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" RELATED [OMIM:191482] +synonym: "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" RELATED [] synonym: "uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome" EXACT [Orphanet:1264] xref: GARD:938 {source="MONDO:GARD"} xref: ICD10CM:Q82.4 {source="Orphanet:1264", source="Orphanet:1264/attributed", source="Orphanet:1264/ntbt"} @@ -180113,7 +180138,7 @@ is_a: MONDO:0019287 {source="Orphanet:1264", source="icd11.foundation:200680230" [Term] id: MONDO:0008623 name: Undritz anomaly -synonym: "hypersegmentation of nuclei of polymorphonuclear leukocytes" RELATED [OMIM:191500] +synonym: "hypersegmentation of nuclei of polymorphonuclear leukocytes" RELATED [] synonym: "Undritz anomaly" EXACT [OMIM:191500] xref: MEDGEN:348657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566014 {source="MONDO:equivalentTo"} @@ -180133,8 +180158,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial dyschondroplasia" RELATED [GARD:0005421] synonym: "hip dysplasia-enchondromata-ecchondroma syndrome" EXACT [Orphanet:3408] -synonym: "Perthes-like hip disease, enchondromata, and Ecchondromata" RELATED [OMIM:191520] -synonym: "Upington disease" EXACT [OMIM:191520] +synonym: "Perthes-like hip disease, enchondromata, and Ecchondromata" RELATED [] +synonym: "Upington disease" EXACT [icd11.foundation:1846351406, OMIM:191520, Orphanet:3408] xref: GARD:5421 {source="MONDO:GARD"} xref: ICD10CM:M91.8 {source="Orphanet:3408", source="Orphanet:3408/attributed", source="Orphanet:3408/ntbt"} xref: icd11.foundation:1846351406 {source="MONDO:equivalentTo"} @@ -180153,8 +180178,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5421/upingto id: MONDO:0008625 name: obsolete urate-binding globulin, decrease 1N comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "urate-binding globulin, decrease IN" RELATED [OMIM:191530] -synonym: "urate-binding globulin, decrease type 1N" EXACT [MONDORULE:4, OMIM:191530] +synonym: "urate-binding globulin, decrease IN" RELATED [] +synonym: "urate-binding globulin, decrease type 1N" EXACT [MONDORULE:4] xref: MESH:C566013 {source="MONDO:obsoleteEquivalent"} xref: OMIM:191530 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -180178,19 +180203,19 @@ def: "A malignant neoplasm involving the ureter" [https://orcid.org/0000-0002-66 subset: otar {source="MONDO:OTAR"} synonym: "cancer of ureter" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of the ureter" EXACT [NCIT:C7543] -synonym: "malignant neoplasm of ureter" EXACT [MONDO:patterns/cancer, NCIT:C7543] +synonym: "malignant neoplasm of ureter" EXACT [ICD10CM:C66, MONDO:patterns/cancer, NCIT:C7543] synonym: "malignant tumor of the ureter" EXACT [NCIT:C7543] -synonym: "malignant tumor of ureter" EXACT [DOID:11819, NCIT:C7543] +synonym: "malignant tumor of ureter" EXACT [NCIT:C7543] synonym: "malignant tumour of the ureter" EXACT OMO:0003005 [] -synonym: "malignant tumour of ureter" EXACT OMO:0003005 [] +synonym: "malignant tumour of ureter" EXACT OMO:0003005 [DOID:11819] synonym: "malignant ureter neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7543] synonym: "malignant ureter tumor" EXACT [NCIT:C7543] synonym: "malignant ureter tumour" EXACT OMO:0003005 [] synonym: "malignant ureteral neoplasm" EXACT [NCIT:C7543] synonym: "malignant ureteral tumor" EXACT [DOID:11819, NCIT:C7543] synonym: "malignant ureteral tumour" EXACT OMO:0003005 [] -synonym: "ureter cancer" EXACT [MONDO:patterns/location] -synonym: "ureter, cancer OF" RELATED [OMIM:191600] +synonym: "ureter cancer" EXACT [DOID:11819, MONDO:patterns/location] +synonym: "ureter, cancer OF" RELATED [] xref: DOID:11819 {source="MONDO:equivalentTo"} xref: ICD10CM:C66 {source="MONDO:equivalentTo", source="DOID:11819"} xref: ICD9:189.2 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:11819"} @@ -180212,7 +180237,7 @@ id: MONDO:0008628 name: ureterocele def: "A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "ureterocele" EXACT [MONDO:ambiguous, OMIM:191650] +synonym: "ureterocele" EXACT [DOID:4022, icd11.foundation:408801251, MONDO:ambiguous, NCIT:C123159, OMIM:191650] synonym: "ureterocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:4022 {source="MONDO:equivalentTo", source="EFO:1001227"} xref: EFO:1001227 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -180235,7 +180260,7 @@ property_value: IAO:0000589 "ureterocele (disease)" xsd:string [Term] id: MONDO:0008629 name: urolithiasis, uric acid, autosomal dominant -synonym: "nephrolithiasis, uric acid, autosomal dominant" RELATED [OMIM:191700] +synonym: "nephrolithiasis, uric acid, autosomal dominant" RELATED [] synonym: "urolithiasis, uric acid, autosomal dominant" EXACT [OMIM:191700] xref: DOID:0080654 {source="MONDO:equivalentTo"} xref: MEDGEN:393068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -180248,7 +180273,7 @@ id: MONDO:0008630 name: urinary bladder, atony of subset: otar {source="MONDO:OTAR"} synonym: "atony of urinary bladder" EXACT [https://orcid.org/0000-0002-2825-0621] -synonym: "bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT" EXACT [OMIM:191800, OMIM:genemap2] +synonym: "bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT" EXACT [OMIM:191800] synonym: "urinary bladder, atony of" EXACT [OMIM:191800] xref: MEDGEN:1684829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:191800 {source="MONDO:equivalentTo"} @@ -180290,15 +180315,15 @@ subset: ordo_disorder {source="Orphanet:575"} subset: orphanet_rare {source="Orphanet:575"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cryopyrin-associated periodic syndrome 2" RELATED [OMIM:191900] +synonym: "Cryopyrin-associated periodic syndrome 2" RELATED [] synonym: "Muckle Wells syndrome" RELATED [GARD:0008472] -synonym: "MUCKLE-Wells syndrome" RELATED [OMIM:191900] -synonym: "Muckle-Wells syndrome" EXACT [MONDO:Lexical, OMIM:191900] -synonym: "MWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:191900] -synonym: "neutrophilic urticaria" EXACT [Orphanet:575] -synonym: "Uda syndrome" RELATED [OMIM:191900] +synonym: "MUCKLE-Wells syndrome" RELATED [] +synonym: "Muckle-Wells syndrome" EXACT [DOID:0050854, icd11.foundation:1983358487, MONDO:Lexical, NCIT:C119054, OMIM:191900, Orphanet:575] +synonym: "MWS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "neutrophilic urticaria" EXACT [DOID:0050854, Orphanet:575] +synonym: "Uda syndrome" RELATED [] synonym: "urticaria, deafness and amyloidosis" RELATED [GARD:0008472] -synonym: "urticaria-deafness-amyloidosis syndrome" RELATED [OMIM:191900] +synonym: "urticaria-deafness-amyloidosis syndrome" RELATED [] xref: DOID:0050854 {source="MONDO:equivalentTo"} xref: GARD:8472 {source="MONDO:GARD"} xref: ICD10CM:E85.0 {source="Orphanet:575/attributed", source="Orphanet:575/ntbt", source="Orphanet:575"} @@ -180356,7 +180381,7 @@ synonym: "Double uterus and obstructed hemivagina syndrome" EXACT [Orphanet:3411 synonym: "Herlyn-Werner syndrome" EXACT [Orphanet:3411] synonym: "obstructed hemivagina and ipsilateral renal anomaly" EXACT [Orphanet:3411] synonym: "OHVIRA syndrome" EXACT [Orphanet:3411] -synonym: "uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis" RELATED [OMIM:192050] +synonym: "uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis" RELATED [] synonym: "Wunderlich syndrome" EXACT [Orphanet:3411] xref: GARD:1910 {source="MONDO:GARD"} xref: MEDGEN:348132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -180381,9 +180406,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:99771"} subset: orphanet_rare {source="Orphanet:99771"} subset: rare synonym: "bifidity of the uvula" EXACT [Orphanet:99771] -synonym: "uvula, bifid" RELATED [OMIM:192100] -synonym: "uvula, cleft" RELATED [OMIM:192100] -synonym: "uvular cleft" EXACT [Orphanet:99771] +synonym: "uvula, bifid" RELATED [] +synonym: "uvula, cleft" RELATED [] +synonym: "uvular cleft" EXACT [icd11.foundation:684398038, Orphanet:99771] xref: GARD:19687 {source="MONDO:GARD"} xref: ICD10CM:Q35.7 {source="Orphanet:99771/e", source="Orphanet:99771"} xref: icd11.foundation:684398038 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99771"} @@ -180400,9 +180425,9 @@ id: MONDO:0008638 name: varicose disease def: "A vascular disease characterized by the presence of enlarged and tortuous veins." [HP:0002619, Wikipedia:Varices] subset: otar {source="MONDO:OTAR"} -synonym: "varices" NARROW [DOID:799, Wikipedia:Varices] -synonym: "varicose veins" NARROW [NCIT:C35114, OMIM:192200, Wikipedia:Varicose_veins] -synonym: "varix" EXACT [DOID:799, Wikipedia:Varices] +synonym: "varices" NARROW [Wikipedia:Varices] +synonym: "varicose veins" NARROW [Wikipedia:Varicose_veins] +synonym: "varix" EXACT [DOID:799, NCIT:C35114, Wikipedia:Varices] synonym: "Venous ectasia" EXACT [DOID:799] synonym: "Venous varices" EXACT [DOID:799] xref: DOID:799 {source="MONDO:equivalentTo"} @@ -180469,20 +180494,20 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ADRVCL" RELATED ABBREVIATION [GARD:0001217] synonym: "autosomal dominant retinal vasculopathy with cerebral leukodystrophy" RELATED [GARD:0001217] -synonym: "cerebroretinal vasculopathy" RELATED [Orphanet:3421, PMID:3174024] -synonym: "cerebroretinal vasculopathy, hereditary" RELATED [GARD:0001217, OMIM:192315] +synonym: "cerebroretinal vasculopathy" RELATED [PMID:3174024] +synonym: "cerebroretinal vasculopathy, hereditary" RELATED [GARD:0001217] synonym: "CRV" RELATED ABBREVIATION [GARD:0001217] synonym: "grand Kaine fulling syndrome" RELATED [GARD:0002558] -synonym: "grand-Kaine-fulling syndrome" RELATED [Orphanet:3421, PMID:3174024] +synonym: "grand-Kaine-fulling syndrome" RELATED [PMID:3174024] synonym: "hereditary vascular retinopathy" EXACT [GARD:0010535] synonym: "HVR" RELATED ABBREVIATION [GARD:0010535] -synonym: "retinal vasculopathy and cerebral leukoencephalopathy" EXACT [Orphanet:247691] +synonym: "retinal vasculopathy and cerebral leukoencephalopathy" EXACT [DOID:0111567, Orphanet:247691] synonym: "retinal vasculopathy with cerebral leukodystrophy" RELATED [GARD:0001217] -synonym: "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena" RELATED [GARD:0001217, OMIM:192315] -synonym: "RVCL" EXACT ABBREVIATION [GARD:0001217, MONDO:Lexical, OMIM:192315, Orphanet:247691] -synonym: "RVCL-S" EXACT [Orphanet:247691] -synonym: "vasculopathy, retinal, with cerebral leukodystrophy" RELATED [MONDO:Lexical, OMIM:192315] -synonym: "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations" EXACT [OMIM:192315, OMIM:genemap2] +synonym: "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena" RELATED [GARD:0001217] +synonym: "RVCL" EXACT ABBREVIATION [DOID:0111567, GARD:0001217, MONDO:Lexical, Orphanet:247691] +synonym: "RVCL-S" EXACT ABBREVIATION [DOID:0111567, Orphanet:247691] +synonym: "vasculopathy, retinal, with cerebral leukodystrophy" RELATED [MONDO:Lexical] +synonym: "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations" EXACT [OMIM:192315] xref: DOID:0111567 {source="MONDO:equivalentTo"} xref: GARD:1217 {source="MONDO:GARD"} xref: icd11.foundation:554838792 {source="MONDO:equivalentTo", source="Orphanet:247691", source="https://orcid.org/0000-0001-5208-3432"} @@ -180523,11 +180548,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:887"} subset: orphanet_rare {source="Orphanet:887"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "VACTERL Association" EXACT [NORD:1818] -synonym: "VACTERL association" EXACT [MONDO:0002007, Orphanet:887] -synonym: "VATER association" EXACT [Orphanet:887] +synonym: "VACTERL Association" EXACT [DOID:14679, icd11.foundation:1452617987, NCIT:C99105, NORD:1818, Orphanet:887] +synonym: "VACTERL association" EXACT [DOID:14679, icd11.foundation:1452617987, MONDO:0002007, NCIT:C99105, Orphanet:887] +synonym: "VATER association" EXACT [icd11.foundation:1452617987, NCIT:C99105, Orphanet:887] synonym: "VATER syndrome" RELATED [DOID:14679] -synonym: "VATER/VACTERL association" RELATED [OMIM:192350] +synonym: "VATER/VACTERL association" RELATED [] synonym: "vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome" EXACT [NCIT:C99105] xref: DOID:14679 {source="MONDO:equivalentTo"} xref: GARD:5443 {source="MONDO:GARD"} @@ -180566,14 +180591,14 @@ def: "A chromosomal disease that has material basis in deletion polymorphisms at subset: gard_rare {source="GARD:15123", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "22q11 deletion syndrome" EXACT [DOID:12583] -synonym: "chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:192430] -synonym: "deletion 22q11.2 syndrome" EXACT [DOID:12583] -synonym: "Shprintzen syndrome" RELATED [DOID:12583, ICD9CM:758.32, PMID:18636631] +synonym: "22q11 deletion syndrome" EXACT [] +synonym: "chromosome 22Q11.2 deletion syndrome" RELATED [] +synonym: "deletion 22q11.2 syndrome" EXACT [] +synonym: "Shprintzen syndrome" RELATED [ICD9CM:758.32, PMID:18636631] synonym: "Shprintzen VCF syndrome" EXACT [OMIM:192430] synonym: "VCF syndrome" EXACT [OMIM:192430] synonym: "VCF-velocardiofacial syndrome" EXACT [DOID:12583] -synonym: "velocardiofacial syndrome" EXACT CLINGEN_LABEL [OMIM:192430] +synonym: "velocardiofacial syndrome" EXACT CLINGEN_LABEL [DOID:12583, OMIM:192430] xref: DOID:12583 {source="MONDO:equivalentTo"} xref: GARD:15123 {source="MONDO:GARD"} xref: ICD10CM:Q93.81 {source="DOID:12583"} @@ -180605,7 +180630,7 @@ subset: rare synonym: "Stoll-Kieny-Dott syndrome" EXACT [Orphanet:3201] synonym: "ventricular extrasystoles perodactyly Robin sequence" RELATED [GARD:0005472] synonym: "ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence" RELATED [GARD:0005472] -synonym: "ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence" RELATED [OMIM:192445] +synonym: "ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence" RELATED [] xref: GARD:5472 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3201/attributed", source="Orphanet:3201/ntbt", source="Orphanet:3201"} xref: MEDGEN:395493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -180631,21 +180656,21 @@ def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mut subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "asymmetric septal Hypertrophy" RELATED [OMIM:192600] +synonym: "asymmetric septal Hypertrophy" RELATED [] synonym: "cardiomyopathy, familial hypertrophic 1" EXACT [DOID:0110307] -synonym: "cardiomyopathy, familial hypertrophic, 1" RELATED [MONDO:Lexical, OMIM:192600] -synonym: "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant" EXACT [OMIM:192600, OMIM:genemap2] -synonym: "cardiomyopathy, familial hypertrophic, type 1" EXACT [MONDORULE:1, OMIM:192600] -synonym: "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant" EXACT [OMIM:192600, OMIM:genemap2] -synonym: "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant" EXACT [OMIM:192600, OMIM:genemap2] -synonym: "Cmh" RELATED [OMIM:192600] +synonym: "cardiomyopathy, familial hypertrophic, 1" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant" EXACT [] +synonym: "cardiomyopathy, familial hypertrophic, type 1" EXACT [MONDORULE:1] +synonym: "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant" EXACT [] +synonym: "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant" EXACT [] +synonym: "Cmh" RELATED [] synonym: "CMH1" EXACT ABBREVIATION [DOID:0110307, MONDO:Lexical, OMIM:192600] -synonym: "hypertrophic cardiomyopathy 1" EXACT CLINGEN_LABEL [] +synonym: "hypertrophic cardiomyopathy 1" EXACT CLINGEN_LABEL [DOID:0110307] synonym: "hypertrophic cardiomyopathy caused by mutation in MYH7" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 1" EXACT [DOID:0110307, MONDORULE:1] -synonym: "hypertrophic subaortic stenosis, idiopathic" RELATED [OMIM:192600] +synonym: "hypertrophic cardiomyopathy type 1" EXACT [MONDORULE:1] +synonym: "hypertrophic subaortic stenosis, idiopathic" RELATED [] synonym: "MYH7 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ventricular Hypertrophy, hereditary" RELATED [OMIM:192600] +synonym: "ventricular Hypertrophy, hereditary" RELATED [] xref: DOID:0110307 {source="MONDO:equivalentTo"} xref: MEDGEN:501195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:192600 {source="DOID:0110307", source="MONDO:equivalentTo"} @@ -180670,8 +180695,8 @@ subset: rare synonym: "familial ventricular tachycardia" RELATED [GARD:0002263] synonym: "hereditary ventricular tachycardia" EXACT [MONDO:patterns/hereditary] synonym: "ventricular tachycardia, familial" EXACT [OMIM:192605] -synonym: "ventricular tachycardia, familial polymorphic" RELATED [OMIM:192605] -synonym: "ventricular tachycardia, idiopathic" EXACT [OMIM:192605, OMIM:genemap2] +synonym: "ventricular tachycardia, familial polymorphic" RELATED [] +synonym: "ventricular tachycardia, idiopathic" EXACT [] xref: GARD:2263 {source="MONDO:GARD"} xref: MEDGEN:83309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:192605 {source="MONDO:equivalentTo"} @@ -180708,7 +180733,7 @@ synonym: "familial posterior lumbosacral vertebral fusion and eyelid ptosis" REL synonym: "Faulk Epstein Jones syndrome" RELATED [GARD:0002276] synonym: "Faulk-Epstein-Jones syndrome" EXACT [Orphanet:2064] synonym: "vertebral fusion posterior lumbosacral blepharoptosis" RELATED [GARD:0005487] -synonym: "vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis" RELATED [OMIM:192800] +synonym: "vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis" RELATED [] xref: GARD:2276 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:2064/attributed", source="Orphanet:2064/ntbt", source="Orphanet:2064"} xref: MEDGEN:348108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -180744,17 +180769,17 @@ subset: ordo_morphological_anomaly {source="Orphanet:178382"} subset: orphanet_rare {source="Orphanet:178382"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Charcot-Marie-Tooth disease, foot deformity of" EXACT [OMIM:192950, OMIM:genemap2] -synonym: "congenital convex foot" EXACT [Orphanet:178382] -synonym: "congenital convex pes valgus" EXACT [Orphanet:178382] -synonym: "congenital rocker-bottom foot" EXACT [Orphanet:178382] -synonym: "CVT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:192950] -synonym: "pes valgus, congenital convex" RELATED [OMIM:192950] +synonym: "Charcot-Marie-Tooth disease, foot deformity of" EXACT [] +synonym: "congenital convex foot" EXACT [DOID:0111568, Orphanet:178382] +synonym: "congenital convex pes valgus" EXACT [DOID:0111568, Orphanet:178382] +synonym: "congenital rocker-bottom foot" EXACT [DOID:0111568, Orphanet:178382] +synonym: "CVT" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pes valgus, congenital convex" RELATED [] synonym: "rocker bottom foot" RELATED [GARD:0005488] -synonym: "rocker-bottom foot" RELATED [OMIM:192950] +synonym: "rocker-bottom foot" RELATED [] synonym: "rocker-bottom foot deformity" RELATED [GARD:0005488] synonym: "vertical talus" RELATED [GARD:0005488] -synonym: "vertical talus, congenital" RELATED [GARD:0005488, MONDO:Lexical, OMIM:192950] +synonym: "vertical talus, congenital" RELATED [GARD:0005488, MONDO:Lexical] xref: DOID:0111568 {source="MONDO:equivalentTo"} xref: GARD:5488 {source="MONDO:GARD"} xref: ICD10CM:Q66.8 {source="Orphanet:178382/ntbt", source="Orphanet:178382/inclusion", source="Orphanet:178382"} @@ -180778,9 +180803,9 @@ name: vesicoureteral reflux 1 subset: gard_rare {source="GARD:18418", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Vesicoureteral reflux" EXACT [OMIM:193000, OMIM:genemap2] +synonym: "Vesicoureteral reflux" EXACT [] synonym: "vesicoureteral reflux 1" EXACT [MONDO:Lexical, OMIM:193000] -synonym: "VUR" RELATED ABBREVIATION [OMIM:193000] +synonym: "VUR" RELATED ABBREVIATION [] synonym: "VUR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193000] xref: GARD:18418 {source="MONDO:GARD"} xref: MEDGEN:1644868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -180796,10 +180821,10 @@ id: MONDO:0008654 name: spinocerebellar ataxia 27A subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "NYS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193003] -synonym: "NYSTAGMUS 4, congenital, autosomal dominant" EXACT [MONDO:Lexical, OMIM:193003] -synonym: "nystagmus 4, congenital, autosomal dominant" EXACT [OMIM:193003] -synonym: "vestibulocerebellar disorder with predominant ocular signs" RELATED [OMIM:193003] +synonym: "NYS4" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "NYSTAGMUS 4, congenital, autosomal dominant" EXACT [MONDO:Lexical] +synonym: "nystagmus 4, congenital, autosomal dominant" EXACT [] +synonym: "vestibulocerebellar disorder with predominant ocular signs" RELATED [] xref: MESH:C537856 {source="MONDO:equivalentTo"} xref: OMIM:193003 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:193003"} @@ -180839,7 +180864,7 @@ replaced_by: MONDO:0007447 [Term] id: MONDO:0008658 name: obsolete virus Rd114 RNA Complementarity -synonym: "virus Rd114 RNA Complementarity" EXACT [OMIM:193070] +synonym: "virus Rd114 RNA Complementarity" EXACT [] xref: OMIM:193070 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGene"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6353" xsd:anyURI @@ -180854,15 +180879,15 @@ subset: ordo_disorder {source="Orphanet:2967"} subset: orphanet_rare {source="Orphanet:2967"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cobalamin Pseudodeficiency due to transcobalamin deficiency" RELATED [OMIM:193090] -synonym: "cobalamin R Binder Protein deficiency" RELATED [OMIM:193090] +synonym: "cobalamin Pseudodeficiency due to transcobalamin deficiency" RELATED [] +synonym: "cobalamin R Binder Protein deficiency" RELATED [] synonym: "Haptocorrin deficiency" EXACT [Orphanet:2967] -synonym: "R Binder deficiency with lactoferrin deficiency" RELATED [OMIM:193090] +synonym: "R Binder deficiency with lactoferrin deficiency" RELATED [] synonym: "TCI deficiency" EXACT [Orphanet:2967] -synonym: "Tcn1 deficiency" RELATED [OMIM:193090] +synonym: "Tcn1 deficiency" RELATED [] synonym: "transcobalamin 1 deficiency" RELATED [GARD:0005239] -synonym: "transcobalamin 1 deficiency with lactoferrin deficiency" RELATED [OMIM:193090] -synonym: "transcobalamin I deficiency" EXACT [OMIM:193090] +synonym: "transcobalamin 1 deficiency with lactoferrin deficiency" RELATED [] +synonym: "transcobalamin I deficiency" EXACT [Orphanet:2967] synonym: "transcobalamin-1 deficiency" EXACT [Orphanet:2967] xref: GARD:4522 {source="MONDO:GARD"} xref: ICD10CM:E53.8 {source="Orphanet:2967/attributed", source="Orphanet:2967/ntbt", source="Orphanet:2967"} @@ -180888,11 +180913,11 @@ subset: rare synonym: "ADHR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193100, Orphanet:89937] synonym: "autosomal dominant hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern] synonym: "autosomal dominant hypophosphatemia" EXACT [Orphanet:89937] -synonym: "autosomal dominant hypophosphatemic rickets" EXACT CLINGEN_LABEL [] +synonym: "autosomal dominant hypophosphatemic rickets" EXACT CLINGEN_LABEL [DOID:0050948, Orphanet:89937] synonym: "hereditary hypophosphatemic rickets, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -synonym: "hypophosphatemia, autosomal dominant" RELATED [OMIM:193100] +synonym: "hypophosphatemia, autosomal dominant" RELATED [] synonym: "hypophosphatemic rickets, autosomal dominant" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_dominant, OMIM:193100] -synonym: "vitamin D-resistant rickets, autosomal dominant" RELATED [OMIM:193100] +synonym: "vitamin D-resistant rickets, autosomal dominant" RELATED [] xref: DOID:0050948 {source="MONDO:equivalentTo"} xref: GARD:16781 {source="MONDO:GARD"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:89937", source="Orphanet:89937/attributed", source="Orphanet:89937/ntbt"} @@ -180943,14 +180968,14 @@ subset: ordo_disorder {source="Orphanet:3086"} subset: orphanet_rare {source="Orphanet:3086"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADVIRC" EXACT ABBREVIATION [Orphanet:3086] -synonym: "microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma" RELATED [OMIM:193220] -synonym: "vitreoretinochoroidopathy" RELATED [MONDO:Lexical, OMIM:193220] +synonym: "ADVIRC" EXACT ABBREVIATION [DOID:0111569, Orphanet:3086] +synonym: "microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma" RELATED [] +synonym: "vitreoretinochoroidopathy" RELATED [MONDO:Lexical] synonym: "vitreoretinochoroidopathy dominant" RELATED [GARD:0005507] -synonym: "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract" RELATED [OMIM:193220] -synonym: "vitreoretinochoroidopathy, autosomal dominant" RELATED [OMIM:193220] -synonym: "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos" RELATED [OMIM:193220] -synonym: "VRCP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193220] +synonym: "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract" RELATED [] +synonym: "vitreoretinochoroidopathy, autosomal dominant" RELATED [] +synonym: "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos" RELATED [] +synonym: "VRCP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "VRCP autosomal dominant" RELATED [GARD:0005507] xref: DOID:0111569 {source="MONDO:equivalentTo"} xref: GARD:5507 {source="MONDO:GARD"} @@ -180981,9 +181006,9 @@ subset: orphanet_rare {source="Orphanet:91496"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "snowflake degeneration in hereditary vitreoretinal degeneration" RELATED [GARD:0009706] -synonym: "snowflake vitreoretinal degeneration" EXACT [OMIM:193230] -synonym: "SVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193230] -synonym: "vitreoretinal degeneration, snowflake type" RELATED [GARD:0009706, MONDO:Lexical, OMIM:193230] +synonym: "snowflake vitreoretinal degeneration" EXACT [DOID:0111570, icd11.foundation:282570444, OMIM:193230, Orphanet:91496] +synonym: "SVD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "vitreoretinal degeneration, snowflake type" RELATED [GARD:0009706, MONDO:Lexical] xref: DOID:0111570 {source="MONDO:equivalentTo"} xref: GARD:9706 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:91496/attributed", source="Orphanet:91496/ntbt", source="MONDO:relatedTo", source="Orphanet:91496"} @@ -181018,7 +181043,7 @@ subset: rare synonym: "congenital bilateral recurrent nerve paralysis and ptosis" RELATED [GARD:0000427] synonym: "ptosis vocal cord paralysis" RELATED [GARD:0000427] synonym: "tucker syndrome" EXACT [Orphanet:2997] -synonym: "vocal cord paralysis and ptosis" RELATED [OMIM:193240] +synonym: "vocal cord paralysis and ptosis" RELATED [] xref: GARD:427 {source="MONDO:GARD"} xref: MEDGEN:349807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536923 {source="MONDO:equivalentTo"} @@ -181035,7 +181060,7 @@ def: "A congenital abnormality in which the intestine is abnormally rotated (twi subset: otar {source="MONDO:OTAR"} synonym: "congenital malrotation of intestine" EXACT [NCIT:C98961] synonym: "intestinal malrotation" EXACT [NCIT:C98961] -synonym: "intestinal malrotation, familial" RELATED [OMIM:193250] +synonym: "intestinal malrotation, familial" RELATED [] synonym: "volvulus of midgut" EXACT [OMIM:193250] xref: MEDGEN:113153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562456 {source="MONDO:equivalentTo"} @@ -181064,12 +181089,12 @@ synonym: "Lindau disease" EXACT [Orphanet:892] synonym: "VHL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193300, Orphanet:892] synonym: "VHL syndrome" RELATED [GARD:0007855] synonym: "Von Hippel Lindau disease" RELATED [GARD:0007855] -synonym: "von Hippel-Lindau disease" EXACT CLINGEN_LABEL [] -synonym: "Von Hippel-Lindau syndrome" EXACT [MONDO:Lexical, OMIM:193300, Orphanet:892] -synonym: "von Hippel-Lindau syndrome" EXACT [DOID:14175] -synonym: "Von Hippel-Lindau syndrome (VHL)" EXACT [DOID:14175, NCIT:C3105] -synonym: "von Hippel-Lindau syndrome, modifier of" EXACT [OMIM:193300, OMIM:genemap2] -synonym: "Von Hippel-Lindau syndrome, Modifiers of" RELATED [OMIM:193300] +synonym: "von Hippel-Lindau disease" EXACT CLINGEN_LABEL [DOID:14175, icd11.foundation:1985408165, NCIT:C3105, Orphanet:892] +synonym: "Von Hippel-Lindau syndrome" EXACT [DOID:14175, icd11.foundation:1985408165, MONDO:Lexical, NCIT:C3105, OMIM:193300, Orphanet:892] +synonym: "von Hippel-Lindau syndrome" EXACT [DOID:14175, icd11.foundation:1985408165, NCIT:C3105, OMIM:193300, Orphanet:892] +synonym: "Von Hippel-Lindau syndrome (VHL)" EXACT [NCIT:C3105] +synonym: "von Hippel-Lindau syndrome, modifier of" EXACT [] +synonym: "Von Hippel-Lindau syndrome, Modifiers of" RELATED [] xref: DOID:14175 {source="MONDO:equivalentTo"} xref: GARD:7855 {source="MONDO:GARD"} xref: ICD10CM:Q85.8 {source="DOID:14175", source="Orphanet:892/ntbt", source="Orphanet:892/inclusion", source="Orphanet:892"} @@ -181110,14 +181135,14 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:166078"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "von Willebrand disease 1" EXACT CLINGEN_LABEL [] -synonym: "von Willebrand disease type 1" EXACT [DOID:0060573] +synonym: "von Willebrand disease type 1" EXACT [DOID:0060573, Orphanet:166078] synonym: "von Willebrand disease type I" EXACT [DOID:0060573] -synonym: "VON WILLEBRAND disease, type 1" RELATED [MONDO:Lexical, OMIM:193400] -synonym: "Von Willebrand disease, type 1" RELATED [OMIM:193400] -synonym: "von willebrand's disease 1" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "von Willebrand's disease type 1" EXACT [DOID:0060573, MONDORULE:1] +synonym: "VON WILLEBRAND disease, type 1" RELATED [MONDO:Lexical] +synonym: "Von Willebrand disease, type 1" RELATED [] +synonym: "von willebrand's disease 1" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0060573, MONDO:LexicalVariant] +synonym: "von Willebrand's disease type 1" EXACT [MONDORULE:1] synonym: "VWD type 1" EXACT [DOID:0060573] -synonym: "VWD, type 1" RELATED [OMIM:193400] +synonym: "VWD, type 1" RELATED [] synonym: "VWD1" EXACT ABBREVIATION [DOID:0060573, MONDO:Lexical, OMIM:193400] xref: DOID:0060573 {source="MONDO:equivalentTo"} xref: GARD:17019 {source="MONDO:GARD"} @@ -181155,10 +181180,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:894"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Waardenburg syndrome type 1" EXACT CLINGEN_LABEL [] -synonym: "Waardenburg syndrome type I" EXACT [DOID:0110948, Orphanet:894] -synonym: "Waardenburg syndrome with dystopia canthorum" RELATED [OMIM:193500] -synonym: "Waardenburg syndrome, type 1" RELATED [MONDO:Lexical, OMIM:193500] +synonym: "Waardenburg syndrome type 1" EXACT CLINGEN_LABEL [DOID:0110948, icd11.foundation:547536187, NCIT:C75008, Orphanet:894] +synonym: "Waardenburg syndrome type I" EXACT [DOID:0110948, NCIT:C75008, Orphanet:894] +synonym: "Waardenburg syndrome with dystopia canthorum" RELATED [] +synonym: "Waardenburg syndrome, type 1" RELATED [MONDO:Lexical] synonym: "Waardenburg's syndrome type 1" RELATED [GARD:0005519] synonym: "WS1" EXACT ABBREVIATION [DOID:0110948, MONDO:Lexical, OMIM:193500, Orphanet:894] xref: DOID:0110948 {source="MONDO:equivalentTo"} @@ -181184,11 +181209,11 @@ subset: gard_rare {source="GARD:5521", source="MONDO:GARD"} subset: rare synonym: "MITF Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Waardenburg syndrome type 2 caused by mutation in MITF" EXACT [MONDO:design_pattern] -synonym: "Waardenburg syndrome type 2A" EXACT CLINGEN_LABEL [] -synonym: "Waardenburg syndrome type IIA" EXACT [DOID:0110950] -synonym: "Waardenburg syndrome without dystopia canthorum" RELATED [OMIM:193510] -synonym: "Waardenburg syndrome, type 2A" RELATED [MONDO:Lexical, OMIM:193510] -synonym: "Ws2" RELATED [OMIM:193510] +synonym: "Waardenburg syndrome type 2A" EXACT CLINGEN_LABEL [DOID:0110950, NCIT:C75011] +synonym: "Waardenburg syndrome type IIA" EXACT [DOID:0110950, NCIT:C75011] +synonym: "Waardenburg syndrome without dystopia canthorum" RELATED [] +synonym: "Waardenburg syndrome, type 2A" RELATED [MONDO:Lexical] +synonym: "Ws2" RELATED [] synonym: "WS2A" EXACT ABBREVIATION [DOID:0110950, MONDO:Lexical, OMIM:193510] xref: DOID:0110950 {source="MONDO:equivalentTo"} xref: GARD:5521 {source="MONDO:GARD"} @@ -181214,10 +181239,10 @@ def: "Watson syndrome is believed to be a variant of neurofibromatosis type 1. T subset: gard_rare {source="GARD:5540", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cafe-Au-lait Spots with pulmonic stenosis" RELATED [OMIM:193520] -synonym: "pulmonic stenosis with cafe-Au-lait Spots" RELATED [OMIM:193520] -synonym: "Watson syndrome" EXACT [MONDO:Lexical, OMIM:193520] -synonym: "WTSN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193520] +synonym: "cafe-Au-lait Spots with pulmonic stenosis" RELATED [] +synonym: "pulmonic stenosis with cafe-Au-lait Spots" RELATED [] +synonym: "Watson syndrome" EXACT [DOID:0070483, icd11.foundation:1674178232, MONDO:Lexical, OMIM:193520] +synonym: "WTSN" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070483 {source="MONDO:equivalentTo"} xref: GARD:5540 {source="MONDO:GARD"} xref: icd11.foundation:1674178232 {source="MONDO:equivalentTo"} @@ -181242,13 +181267,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:952"} subset: orphanet_rare {source="Orphanet:952"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrodental dysostosis of Weyers" RELATED [OMIM:193530] +synonym: "acrodental dysostosis of Weyers" RELATED [] synonym: "acrofacial dysostosis of Weyers" RELATED [GARD:0000497] synonym: "curry Hall syndrome" RELATED [GARD:0000497] -synonym: "curry-Hall syndrome" EXACT [OMIM:193530, Orphanet:952] -synonym: "wad" RELATED [MONDO:Lexical, OMIM:193530] -synonym: "Weyers acrodental dysostosis" EXACT [Orphanet:952] -synonym: "Weyers acrofacial dysostosis" EXACT [MONDO:Lexical, OMIM:193530, Orphanet:952] +synonym: "curry-Hall syndrome" EXACT [DOID:0111571, OMIM:193530, Orphanet:952] +synonym: "wad" RELATED [MONDO:Lexical] +synonym: "Weyers acrodental dysostosis" EXACT [DOID:0111571, Orphanet:952] +synonym: "Weyers acrofacial dysostosis" EXACT [DOID:0111571, MONDO:Lexical, OMIM:193530, Orphanet:952] xref: DOID:0111571 {source="MONDO:equivalentTo"} xref: GARD:497 {source="MONDO:GARD"} xref: ICD10CM:Q75.4 {source="Orphanet:952/attributed", source="Orphanet:952/ntbt", source="Orphanet:952"} @@ -181285,20 +181310,20 @@ subset: ordo_malformation_syndrome {source="Orphanet:2053"} subset: orphanet_rare {source="Orphanet:2053"} subset: rare synonym: "arthrogryposis distal type 2A" RELATED [GARD:0006466] -synonym: "arthrogryposis, distal, type 2A" RELATED [MONDO:Lexical, OMIM:193700] -synonym: "arthrogryposis, distal, type 2A (Freeman-Sheldon)" EXACT [OMIM:193700, OMIM:genemap2] +synonym: "arthrogryposis, distal, type 2A" RELATED [MONDO:Lexical] +synonym: "arthrogryposis, distal, type 2A (Freeman-Sheldon)" EXACT [] synonym: "cranio-carpo-tarsal syndrome" EXACT [NCIT:C98931] -synonym: "Craniocarpotarsal dysplasia" EXACT [OMIM:193700, Orphanet:2053] -synonym: "craniocarpotarsal dysplasia" EXACT [DOID:0111604] -synonym: "Craniocarpotarsal dystrophy" EXACT [OMIM:193700, Orphanet:2053] -synonym: "craniocarpotarsal dystrophy" EXACT [DOID:0111604] -synonym: "DA2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193700] -synonym: "distal arthrogryposis type 2A" EXACT [Orphanet:2053] -synonym: "Freeman Sheldon Syndrome" EXACT [NORD:1161] +synonym: "Craniocarpotarsal dysplasia" EXACT [DOID:0111604, icd11.foundation:1314169421, NCIT:C98931, OMIM:193700, Orphanet:2053] +synonym: "craniocarpotarsal dysplasia" EXACT [DOID:0111604, icd11.foundation:1314169421, NCIT:C98931, OMIM:193700, Orphanet:2053] +synonym: "Craniocarpotarsal dystrophy" EXACT [DOID:0111604, icd11.foundation:1314169421, OMIM:193700, Orphanet:2053] +synonym: "craniocarpotarsal dystrophy" EXACT [DOID:0111604, icd11.foundation:1314169421, OMIM:193700, Orphanet:2053] +synonym: "DA2A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "distal arthrogryposis type 2A" EXACT [DOID:0111605, icd11.foundation:1314169421, NCIT:C98931, Orphanet:2053] +synonym: "Freeman Sheldon Syndrome" EXACT [NCIT:C98931, NORD:1161] synonym: "Freeman Sheldon syndrome" EXACT [NCIT:C98931] -synonym: "Freeman-Sheldon syndrome" EXACT [OMIM:193700] +synonym: "Freeman-Sheldon syndrome" EXACT [DOID:0111604, icd11.foundation:1314169421, NCIT:C98931, OMIM:193700, Orphanet:2053] synonym: "FSS" RELATED ABBREVIATION [GARD:0006466] -synonym: "whistling face syndrome" EXACT [DOID:0111604, Orphanet:2053] +synonym: "whistling face syndrome" EXACT [DOID:0111604, icd11.foundation:1314169421, Orphanet:2053] synonym: "whistling face-windmill vane hand syndrome" EXACT [DOID:0111604, OMIM:193700] synonym: "whistling-face syndrome" EXACT [NCIT:C98931] synonym: "windmill-vane-hand syndrome" EXACT [NCIT:C98931] @@ -181332,12 +181357,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary mucosal leukokeratosis caused by mutation in KRT4" EXACT [MONDO:design_pattern] synonym: "KRT4 hereditary mucosal leukokeratosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "leukokeratosis, hereditary mucosal" RELATED [OMIM:193900] -synonym: "WHITE sponge NEVUS 1" RELATED [OMIM:193900] -synonym: "white sponge nevus 1" EXACT [MONDO:Lexical, OMIM:193900] -synonym: "White sponge Nevus of Cannon" RELATED [OMIM:193900] -synonym: "White sponge Nevus type 1" EXACT [MONDORULE:1, OMIM:193900] -synonym: "WSN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:193900] +synonym: "leukokeratosis, hereditary mucosal" RELATED [] +synonym: "WHITE sponge NEVUS 1" RELATED [] +synonym: "white sponge nevus 1" EXACT [DOID:0081287, MONDO:Lexical, OMIM:193900] +synonym: "White sponge Nevus of Cannon" RELATED [] +synonym: "White sponge Nevus type 1" EXACT [MONDORULE:1] +synonym: "WSN1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081287 {source="MONDO:equivalentTo"} xref: MEDGEN:860363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:193900 {source="MONDO:equivalentTo"} @@ -181352,7 +181377,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008677 name: obsolete widow's peak comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0000349 -synonym: "widow'S peak" RELATED [OMIM:194000] +synonym: "widow'S peak" RELATED [] synonym: "widow's peak" EXACT [MONDO:ambiguous] synonym: "widow's peak (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000349 {source="MONDO:otherHierarchy"} @@ -181374,13 +181399,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:904"} subset: orphanet_rare {source="Orphanet:904"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb" RELATED [OMIM:194050] +synonym: "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb" RELATED [] synonym: "deletion 7q11.23" EXACT [Orphanet:904] synonym: "Fanconi Schlesinger syndrome" EXACT [DOID:1928] synonym: "monosomy 7q11.23" EXACT [Orphanet:904] -synonym: "WBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194050] -synonym: "Williams syndrome" EXACT [OMIM:194050] -synonym: "Williams-Beuren syndrome" EXACT [MONDO:Lexical, OMIM:194050, Orphanet:904] +synonym: "WBS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Williams syndrome" EXACT [NCIT:C85232, OMIM:194050, Orphanet:904] +synonym: "Williams-Beuren syndrome" EXACT [DOID:1928, MONDO:Lexical, NCIT:C85232, OMIM:194050, Orphanet:904] synonym: "Williams-Beuren syndrome (WBS)" EXACT [NCIT:C85232] synonym: "WMS" RELATED ABBREVIATION [GARD:0007891] xref: DECIPHER:3 {source="MONDO:equivalentTo"} @@ -181422,18 +181447,18 @@ subset: gard_rare {source="GARD:15124", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "nephroblastoma" RELATED [OMIM:194070] -synonym: "renal Wilms tumor" BROAD [DOID:2154, NCIT:C40407] +synonym: "nephroblastoma" RELATED [] +synonym: "renal Wilms tumor" BROAD [] synonym: "renal Wilms tumour" BROAD OMO:0003005 [] synonym: "Wilms tumor 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:194070] -synonym: "Wilms tumor type 1" EXACT [MONDORULE:1, OMIM:194070] -synonym: "Wilms tumor, autosomal dominant, somatic mutation" EXACT [OMIM:194070, OMIM:genemap2] -synonym: "Wilms tumor, somatic" EXACT [OMIM:194070, OMIM:genemap2] -synonym: "Wilms tumor, type 1, autosomal dominant, somatic mutation" EXACT [OMIM:194070, OMIM:genemap2] +synonym: "Wilms tumor type 1" EXACT [MONDORULE:1] +synonym: "Wilms tumor, autosomal dominant, somatic mutation" EXACT [] +synonym: "Wilms tumor, somatic" EXACT [] +synonym: "Wilms tumor, type 1, autosomal dominant, somatic mutation" EXACT [] synonym: "Wilms tumour type 1" EXACT OMO:0003005 [] -synonym: "Wilms' tumor" BROAD [DOID:2154] +synonym: "Wilms' tumor" BROAD [] synonym: "Wilms' tumour" BROAD OMO:0003005 [] -synonym: "WT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194070] +synonym: "WT1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15124 {source="MONDO:GARD"} xref: MESH:D009396 {source="DOID:2154"} xref: NCIT:C27730 {source="DOID:2154", source="MONDO:directSiblingOf"} @@ -181460,11 +181485,11 @@ synonym: "familial Wilms tumor 2" RELATED [GARD:0008559] synonym: "familial Wilms tumour 2" RELATED OMO:0003005 [] synonym: "FWT2" RELATED ABBREVIATION [GARD:0008559] synonym: "Wilms tumor 2" EXACT [MESH:C536853, MONDO:Lexical, OMIM:194071] -synonym: "Wilms tumor 2, autosomal dominant, somatic mutation" EXACT [OMIM:194071, OMIM:genemap2] -synonym: "Wilms tumor type 2" EXACT [MONDORULE:1, OMIM:194071] +synonym: "Wilms tumor 2, autosomal dominant, somatic mutation" EXACT [] +synonym: "Wilms tumor type 2" EXACT [MONDORULE:1] synonym: "Wilms tumour 2, autosomal dominant, somatic mutation" EXACT OMO:0003005 [] synonym: "Wilms tumour type 2" EXACT OMO:0003005 [] -synonym: "WT2" RELATED ABBREVIATION [MESH:C536853, MONDO:Lexical, OMIM:194071] +synonym: "WT2" RELATED ABBREVIATION [MESH:C536853, MONDO:Lexical] xref: GARD:8559 {source="MONDO:GARD"} xref: MEDGEN:854562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536853 {source="MONDO:equivalentTo"} @@ -181492,30 +181517,30 @@ subset: rare synonym: "11p deletion" RELATED [GARD:0001732] synonym: "11p deletion syndrome" RELATED [GARD:0005528] synonym: "11p monosomy" RELATED [GARD:0001732] -synonym: "11p partial monosomy syndrome" EXACT [NCIT:C3718] +synonym: "11p partial monosomy syndrome" EXACT [DOID:14515, NCIT:C3718] synonym: "AGR triad" RELATED [GARD:0005528] synonym: "chromosome 11p deletion" RELATED [GARD:0001732] synonym: "chromosome 11p deletion syndrome" RELATED [GARD:0005528] -synonym: "chromosome 11P13 deletion syndrome" RELATED [OMIM:194072] -synonym: "chromosome 11p13 deletion syndrome" EXACT [DOID:14515] +synonym: "chromosome 11P13 deletion syndrome" RELATED [] +synonym: "chromosome 11p13 deletion syndrome" EXACT [DOID:14515, OMIM:194072] synonym: "Del(11)(p13)" EXACT [Orphanet:893] synonym: "deletion 11p" RELATED [GARD:0001732] synonym: "deletion 11p13" EXACT [Orphanet:893] synonym: "monosomy 11p" RELATED [GARD:0001732] -synonym: "monosomy 11p13" EXACT [Orphanet:893] +synonym: "monosomy 11p13" EXACT [icd11.foundation:1858307812, Orphanet:893] synonym: "partial monosomy 11p" RELATED [GARD:0001732] -synonym: "WAGR" RELATED DEPRECATED [MONDO:Lexical, OMIM:194072] +synonym: "WAGR" RELATED DEPRECATED [MONDO:Lexical] synonym: "WAGR 11p13 deletion syndrome" EXACT [DECIPHER:35] synonym: "WAGR Complex" RELATED [GARD:0005528] -synonym: "WAGR syndrome" EXACT [NCIT:C3718, OMIM:194072] +synonym: "WAGR syndrome" EXACT [DOID:14515, icd11.foundation:1858307812, NCIT:C3718, OMIM:194072, Orphanet:893] synonym: "WAGR Syndrome/11p Deletion Syndrome" EXACT [NORD:1833] synonym: "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome" EXACT [NCIT:C3718] -synonym: "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:194072, OMIM:genemap2] -synonym: "Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:194072] -synonym: "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:194072] +synonym: "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation" EXACT [] +synonym: "Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome" RELATED [MONDO:Lexical] +synonym: "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical] synonym: "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome" RELATED [GARD:0005528] synonym: "Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome" RELATED DEPRECATED [GARD:0005528] -synonym: "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome" EXACT [DOID:14515, NCIT:C3718, Orphanet:893] +synonym: "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome" EXACT [Orphanet:893] synonym: "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome" EXACT DEPRECATED [DOID:14515, NCIT:C3718] synonym: "Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome" RELATED [GARD:0005528] synonym: "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome" RELATED DEPRECATED [GARD:0005528] @@ -181559,19 +181584,19 @@ subset: ordo_disorder {source="Orphanet:220"} subset: orphanet_rare {source="Orphanet:220"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194080] +synonym: "DDS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Denys Drash syndrome" EXACT [NCIT:C84668] -synonym: "Denys-Drash syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:194080] -synonym: "Denys-Drash syndrome, autosomal dominant, somatic mutation" EXACT [OMIM:194080, OMIM:genemap2] -synonym: "Drash syndrome" EXACT [OMIM:194080, Orphanet:220] +synonym: "Denys-Drash syndrome" EXACT CLINGEN_LABEL [DOID:3764, icd11.foundation:904981302, MONDO:Lexical, NCIT:C84668, OMIM:194080, Orphanet:220] +synonym: "Denys-Drash syndrome, autosomal dominant, somatic mutation" EXACT [] +synonym: "Drash syndrome" EXACT [icd11.foundation:904981302, OMIM:194080, Orphanet:220] synonym: "nephropathy associated with male pseudohermaphroditism and Wilms' tumor" RELATED [GARD:0005576] synonym: "nephropathy associated with male pseudohermaphroditism and Wilms' tumour" RELATED OMO:0003005 [] -synonym: "nephropathy, Wilms tumor, and genital anomalies" RELATED [OMIM:194080] +synonym: "nephropathy, Wilms tumor, and genital anomalies" RELATED [] synonym: "nephrotic syndrome type 4" EXACT [NCIT:C84668] synonym: "pseudohermaphroditism, nephron disorder and Wilms' tumor" RELATED [GARD:0005576] synonym: "pseudohermaphroditism, nephron disorder and Wilms' tumour" RELATED OMO:0003005 [] -synonym: "Wilms tumor and pseudo- or true hermaphroditism" RELATED [OMIM:194080] -synonym: "Wilms tumor and pseudohermaphroditism" EXACT [Orphanet:220] +synonym: "Wilms tumor and pseudo- or true hermaphroditism" RELATED [] +synonym: "Wilms tumor and pseudohermaphroditism" EXACT [] synonym: "Wilms tumour and pseudo- or true hermaphroditism" RELATED OMO:0003005 [] synonym: "Wilms tumour and pseudohermaphroditism" EXACT OMO:0003005 [] xref: DOID:3764 {source="MONDO:equivalentTo"} @@ -181609,8 +181634,8 @@ subset: gard_rare {source="GARD:15125", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Wilms tumor 3" EXACT [MONDO:Lexical, OMIM:194090] -synonym: "Wilms tumor, type 3" EXACT [OMIM:194090, OMIM:genemap2] -synonym: "WT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194090] +synonym: "Wilms tumor, type 3" EXACT [] +synonym: "WT3" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15125 {source="MONDO:GARD"} xref: MEDGEN:349770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565991 {source="MONDO:equivalentTo"} @@ -181632,23 +181657,23 @@ subset: ordo_malformation_syndrome {source="Orphanet:280"} subset: orphanet_rare {source="Orphanet:280"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "4p deletion syndrome" EXACT [DOID:0050460] +synonym: "4p deletion syndrome" EXACT [DOID:0050460, NCIT:C35528] synonym: "4p syndrome" RELATED [GARD:0007896] synonym: "4p- syndrome" EXACT [Orphanet:280] synonym: "chromosome 4p syndrome" RELATED [GARD:0007896] -synonym: "chromosome 4P16.3 deletion syndrome" RELATED [OMIM:194190] -synonym: "chromosome 4p16.3 deletion syndrome" EXACT [DOID:0050460] +synonym: "chromosome 4P16.3 deletion syndrome" RELATED [] +synonym: "chromosome 4p16.3 deletion syndrome" EXACT [DOID:0050460, OMIM:194190] synonym: "distal deletion 4p" EXACT [Orphanet:280] synonym: "distal monosomy 4p" EXACT [Orphanet:280] synonym: "microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation" RELATED [GARD:0007896] -synonym: "Pitt syndrome" EXACT [DOID:0050460] +synonym: "Pitt syndrome" EXACT [DOID:0050460, OMIM:194190] synonym: "Pitt-Rogers-Danks syndrome" EXACT [DOID:0050460, OMIM:194190] synonym: "telomeric deletion 4p" EXACT [Orphanet:280] -synonym: "WHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194190] +synonym: "WHS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Wittwer syndrome" EXACT [OMIM:194190] synonym: "Wolf syndrome" RELATED [GARD:0007896] -synonym: "Wolf-Hirschhorn syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:194190] -synonym: "Wolf-Hirschhorn syndrome, Isolated cases" EXACT [OMIM:194190, OMIM:genemap2] +synonym: "Wolf-Hirschhorn syndrome" EXACT CLINGEN_LABEL [DOID:0050460, icd11.foundation:1337401724, MONDO:Lexical, NCIT:C35528, OMIM:194190, Orphanet:280] +synonym: "Wolf-Hirschhorn syndrome, Isolated cases" EXACT [] xref: DECIPHER:1 {source="MONDO:equivalentTo"} xref: DOID:0050460 {source="MONDO:equivalentTo"} xref: GARD:7896 {source="MONDO:GARD"} @@ -181688,17 +181713,17 @@ def: "A cardiac conduction disorder characterized by an electrocardiographic fin subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "accessory atrioventricular pathways" RELATED [OMIM:194200] +synonym: "accessory atrioventricular pathways" RELATED [] synonym: "anomalous A-V excitation" EXACT [DOID:384] synonym: "anomalous atrioventricular excitation" EXACT [DOID:384] -synonym: "preexcitation syndrome" RELATED [OMIM:194200] -synonym: "ventricular familial preexcitation syndrome" EXACT [Orphanet:907] +synonym: "preexcitation syndrome" RELATED [] +synonym: "ventricular familial preexcitation syndrome" EXACT [] synonym: "Wolff-Parkinson-White pattern" EXACT [DOID:384] -synonym: "Wolff-Parkinson-White pattern (finding)" EXACT [DOID:384] -synonym: "Wolff-Parkinson-White syndrome" EXACT [MONDO:ambiguous, OMIM:194200] +synonym: "Wolff-Parkinson-White pattern (finding)" EXACT [] +synonym: "Wolff-Parkinson-White syndrome" EXACT [DOID:384, icd11.foundation:1091030330, MONDO:ambiguous, NCIT:C35132, OMIM:194200] synonym: "Wolff-Parkinson-white syndrome (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "WPW" EXACT ABBREVIATION [NCIT:C35132] -synonym: "Wpw syndrome" RELATED [OMIM:194200] +synonym: "WPW" EXACT ABBREVIATION [NCIT:C35132, OMIM:194200] +synonym: "Wpw syndrome" RELATED [] xref: DOID:384 {source="MONDO:equivalentTo"} xref: EFO:1001450 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0001716 {source="MONDO:otherHierarchy"} @@ -181736,21 +181761,21 @@ subset: ordo_disorder {source="Orphanet:170"} subset: orphanet_rare {source="Orphanet:170"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADWH" RELATED ABBREVIATION [OMIM:194300] +synonym: "ADWH" RELATED ABBREVIATION [] synonym: "familial woolly hair (autosomal recessive)" RELATED OMO:0003005 [] -synonym: "familial woolly hair syndrome" EXACT OMO:0003005 [] +synonym: "familial woolly hair syndrome" EXACT OMO:0003005 [DOID:0111572, Orphanet:170] synonym: "familial wooly hair (autosomal recessive)" RELATED [GARD:0005597] -synonym: "familial wooly hair syndrome" EXACT [Orphanet:170] +synonym: "familial wooly hair syndrome" EXACT [DOID:0111572, Orphanet:170] synonym: "hereditary woolly hair (autosomal dominant)" RELATED OMO:0003005 [] -synonym: "hereditary woolly hair syndrome" EXACT OMO:0003005 [] +synonym: "hereditary woolly hair syndrome" EXACT OMO:0003005 [DOID:0111572, Orphanet:170] synonym: "hereditary wooly hair (autosomal dominant)" RELATED [GARD:0005597] -synonym: "hereditary wooly hair syndrome" EXACT [Orphanet:170] -synonym: "woolly hair" EXACT OMO:0003005 [] +synonym: "hereditary wooly hair syndrome" EXACT [DOID:0111572, Orphanet:170] +synonym: "woolly hair" EXACT OMO:0003005 [DOID:0111572, Orphanet:170] synonym: "woolly hair syndrome" RELATED OMO:0003005 [] synonym: "woolly hair, autosomal dominant" RELATED OMO:0003005 [] -synonym: "wooly hair" EXACT [MONDO:ambiguous, Orphanet:170] +synonym: "wooly hair" EXACT [DOID:0111572, MONDO:ambiguous, Orphanet:170] synonym: "wooly hair syndrome" RELATED [GARD:0005597] -synonym: "wooly hair, autosomal dominant" RELATED [MONDO:Lexical, OMIM:194300] +synonym: "wooly hair, autosomal dominant" RELATED [MONDO:Lexical] xref: DOID:0111572 {source="MONDO:equivalentTo"} xref: GARD:5597 {source="MONDO:GARD"} xref: HP:0002224 {source="MONDO:otherHierarchy"} @@ -181786,7 +181811,7 @@ subset: rare synonym: "radial-ulnar hypoplasia with bone marrow failure and/or leukaemia" RELATED OMO:0003005 [] synonym: "radial-ulnar hypoplasia with bone marrow failure and/or leukemia" RELATED [GARD:0000039] synonym: "WT limb blood syndrome" RELATED [GARD:0000039] -synonym: "WT limb-blood syndrome" EXACT [OMIM:194350] +synonym: "WT limb-blood syndrome" EXACT [icd11.foundation:1407849410, OMIM:194350, Orphanet:3466] synonym: "WTsyndrome" RELATED [GARD:0000039] xref: GARD:39 {source="MONDO:GARD"} xref: ICD10CM:D61.0 {source="Orphanet:3466", source="Orphanet:3466/attributed", source="Orphanet:3466/ntbt"} @@ -181808,22 +181833,22 @@ subset: gard_rare {source="GARD:15126", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dehydrated hereditary stomatocytosis" RELATED [OMIM:194380] -synonym: "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema" RELATED [OMIM:194380] -synonym: "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema" RELATED [OMIM:194380] +synonym: "dehydrated hereditary stomatocytosis" RELATED [] +synonym: "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema" RELATED [] +synonym: "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema" RELATED [] synonym: "DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal oedema" RELATED OMO:0003005 [] synonym: "Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal oedema" RELATED OMO:0003005 [] synonym: "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema" RELATED [GARD:0010676] synonym: "Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal oedema" RELATED OMO:0003005 [] -synonym: "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" RELATED [OMIM:194380] -synonym: "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" EXACT [MONDO:Lexical, OMIM:194380] +synonym: "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" RELATED [] +synonym: "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema" EXACT [MONDO:Lexical] synonym: "DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema" RELATED OMO:0003005 [] -synonym: "Desiccytosis, hereditary" RELATED [OMIM:194380] -synonym: "DHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194380] -synonym: "DHS1" RELATED ABBREVIATION [OMIM:194380] -synonym: "pseudohyperkalemia Edinburgh" RELATED [OMIM:194380] -synonym: "pseudohyperkalemia, familial, 1, due to Red cell leak" RELATED [OMIM:194380] -synonym: "xerocytosis, hereditary" RELATED [OMIM:194380] +synonym: "Desiccytosis, hereditary" RELATED [] +synonym: "DHS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "DHS1" RELATED ABBREVIATION [] +synonym: "pseudohyperkalemia Edinburgh" RELATED [] +synonym: "pseudohyperkalemia, familial, 1, due to Red cell leak" RELATED [] +synonym: "xerocytosis, hereditary" RELATED [] xref: DOID:0111576 {source="MONDO:equivalentTo"} xref: GARD:15126 {source="MONDO:GARD"} xref: MEDGEN:1638271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -181853,9 +181878,9 @@ is_a: MONDO:0019600 {source="DC-OMIM:194400", source="MESH:C565989"} ! xeroderma [Term] id: MONDO:0008691 name: zinc, elevated plasma -synonym: "albumin binding of zinc, elevated" RELATED [OMIM:194470] -synonym: "hyperzincemia and hypercalprotectinemia" RELATED [OMIM:194470] -synonym: "hyperzincemia, familial Dysalbuminemic" RELATED [OMIM:194470] +synonym: "albumin binding of zinc, elevated" RELATED [] +synonym: "hyperzincemia and hypercalprotectinemia" RELATED [] +synonym: "hyperzincemia, familial Dysalbuminemic" RELATED [] synonym: "zinc, elevated plasma" EXACT [OMIM:194470] xref: MEDGEN:349756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:194470 {source="MONDO:equivalentTo"} @@ -181873,21 +181898,21 @@ subset: ordo_disorder {source="Orphanet:14"} subset: orphanet_rare {source="Orphanet:14"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "abetalipoproteinemia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:200100] +synonym: "abetalipoproteinemia" EXACT CLINGEN_LABEL [DOID:1386, MONDO:Lexical, NCIT:C84525, OMIM:200100, Orphanet:14] synonym: "abetalipoproteinemia neuropathy" RELATED [GARD:0000005] -synonym: "ABL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200100] -synonym: "acanthocytosis" RELATED [OMIM:200100] +synonym: "ABL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "acanthocytosis" RELATED [] synonym: "apolipoprotein B deficiency" RELATED [GARD:0000005] synonym: "Bassen Kornzweig syndrome" RELATED [GARD:0000005] synonym: "Bassen-Kornzweig disease" EXACT [Orphanet:14] -synonym: "Bassen-Kornzweig syndrome" RELATED [OMIM:200100] +synonym: "Bassen-Kornzweig syndrome" RELATED [] synonym: "Betalipoprotein deficiency disease" RELATED [GARD:0000005] synonym: "congenital betalipoprotein deficiency syndrome" RELATED [GARD:0000005] synonym: "familial hypobetalipoproteinemia" EXACT [DOID:1386] synonym: "homozygous familial hypobetalipoproteinemia" EXACT [Orphanet:14] -synonym: "microsomal triglyceride transfer Protein deficiency" RELATED [OMIM:200100] +synonym: "microsomal triglyceride transfer Protein deficiency" RELATED [] synonym: "microsomal triglyceride transfer protein deficiency disease" EXACT [DOID:1386] -synonym: "MTP deficiency" RELATED [OMIM:200100] +synonym: "MTP deficiency" RELATED [] xref: DOID:1386 {source="MONDO:equivalentTo"} xref: GARD:5 {source="MONDO:GARD"} xref: ICD10CM:E78.6 {source="Orphanet:14/ntbt", source="DOID:1386", source="Orphanet:14/inclusion", source="Orphanet:14"} @@ -181922,11 +181947,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:920"} subset: orphanet_rare {source="Orphanet:920"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ablepharon-Macrostomia Syndrome" EXACT [NORD:704] +synonym: "Ablepharon-Macrostomia Syndrome" EXACT [NORD:704, OMIM:200110] synonym: "ablepharon-macrostomia syndrome" EXACT [MONDO:Lexical, OMIM:200110] synonym: "AMS" EXACT ABBREVIATION [GARD:0000003, MONDO:Lexical, OMIM:200110] synonym: "congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies" RELATED [GARD:0000003] -synonym: "poikiloderma with neutropenia, Clericuzio type" RELATED EXCLUDE [DOID:0060550] +synonym: "poikiloderma with neutropenia, Clericuzio type" RELATED EXCLUDE [] xref: DOID:0060550 {source="MONDO:equivalentTo"} xref: GARD:3 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:920", source="Orphanet:920/attributed", source="Orphanet:920/ntbt"} @@ -181952,14 +181977,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:2985"} subset: orphanet_rare {source="Orphanet:2985"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "absent eyebrows and eyelashes with intellectual disability" RELATED [OMIM:200130] -synonym: "absent eyebrows and eyelashes with mental retardation" RELATED DEPRECATED [OMIM:200130] +synonym: "absent eyebrows and eyelashes with intellectual disability" RELATED [] +synonym: "absent eyebrows and eyelashes with mental retardation" RELATED DEPRECATED [] synonym: "absent eyebrows and eyelashes-intellectual disability syndrome" EXACT [Orphanet:2985] -synonym: "eyebrows and eyelashes absence-intellectual disability syndrome" EXACT [Orphanet:2985] +synonym: "eyebrows and eyelashes absence-intellectual disability syndrome" EXACT [] synonym: "Hal-Berg-Rudolph syndrome" EXACT [Orphanet:2985] synonym: "intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" RELATED [GARD:0000415] synonym: "mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" RELATED DEPRECATED [GARD:0000415] -synonym: "pseudoprogeria syndrome" EXACT [OMIM:200130] +synonym: "pseudoprogeria syndrome" EXACT [OMIM:200130, Orphanet:2985] xref: GARD:415 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2985", source="Orphanet:2985/attributed", source="Orphanet:2985/ntbt"} xref: MEDGEN:163218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -181985,16 +182010,17 @@ subset: ordo_disorder {source="Orphanet:2388"} subset: orphanet_rare {source="Orphanet:2388"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acanthocytosis with neurologic disorder" RELATED [OMIM:200150] -synonym: "Chac" EXACT [MONDO:Lexical, OMIM:200150, Orphanet:2388] +synonym: "acanthocytosis with neurologic disorder" RELATED [] +synonym: "CHAC" EXACT ABBREVIATION [OMIM:200150] +synonym: "Chac" EXACT [MONDO:Lexical, Orphanet:2388] synonym: "chorea acanthocytosis" RELATED [GARD:0003956] synonym: "chorea-acanthocytosis" EXACT CLINGEN_LABEL [OMIM:200150, Orphanet:2388] -synonym: "choreaacanthocytosis" RELATED [DOID:0050766] +synonym: "choreaacanthocytosis" RELATED [] synonym: "choreo-acanthocytosis" EXACT [DOID:0050766] -synonym: "CHOREOACANTHOCYTOSIS" RELATED ABBREVIATION [OMIM:200150] -synonym: "choreoacanthocytosis" EXACT [DOID:0050766, MONDO:Lexical, OMIM:200150] -synonym: "Levine-Critchley syndrome" EXACT [DOID:0050766, OMIM:200150, Orphanet:2388] -synonym: "neuroacanthocytosis" RELATED [OMIM:200150] +synonym: "CHOREOACANTHOCYTOSIS" RELATED ABBREVIATION [] +synonym: "choreoacanthocytosis" EXACT [MONDO:Lexical, OMIM:200150, Orphanet:2388] +synonym: "Levine-Critchley syndrome" EXACT [DOID:0050766, Orphanet:2388] +synonym: "neuroacanthocytosis" RELATED [] xref: DOID:0050766 {source="MONDO:equivalentTo"} xref: GARD:3956 {source="MONDO:GARD"} xref: ICD10CM:E78.6 {source="Orphanet:2388", source="Orphanet:2388/attributed", source="Orphanet:2388/ntbt", source="DOID:0050766"} @@ -182023,7 +182049,7 @@ subset: orphanet_rare {source="Orphanet:90301"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acanthosis nigricans muscle cramps acral enlargement" RELATED [GARD:0000453] -synonym: "acanthosis nigricans with muscle cramps and acral enlargement" RELATED [OMIM:200170] +synonym: "acanthosis nigricans with muscle cramps and acral enlargement" RELATED [] synonym: "familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps" RELATED [GARD:0000453] xref: GARD:453 {source="MONDO:GARD"} xref: MEDGEN:348051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -182040,7 +182066,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008697 name: obsolete acetophenetidin sensitivity -synonym: "Acetophenetidin sensitivity" EXACT [OMIM:200300] +synonym: "Acetophenetidin sensitivity" EXACT [] xref: OMIM:200300 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -182048,12 +182074,12 @@ is_obsolete: true id: MONDO:0008698 name: achalasia def: "A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food." [NCIT:P378] -synonym: "achalasia" EXACT [MONDO:ambiguous] +synonym: "achalasia" EXACT [DOID:9164, icd11.foundation:636464846, MONDO:ambiguous] synonym: "achalasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "achalasia of cardia" EXACT [DOID:9164] +synonym: "achalasia of cardia" EXACT [DOID:9164, icd11.foundation:636464846] synonym: "achalasia of esophagus" EXACT [DOID:9164] -synonym: "achalasia of oesophagus" EXACT OMO:0003005 [] -synonym: "cardiospasm" EXACT [DOID:9164] +synonym: "achalasia of oesophagus" EXACT OMO:0003005 [icd11.foundation:636464846] +synonym: "cardiospasm" EXACT [DOID:9164, icd11.foundation:636464846] synonym: "esophageal achalasia" EXACT [DOID:9164, MTH:NOCODE] synonym: "hypertensive lower esophageal sphincter" EXACT [DOID:9164] synonym: "lack of reflex relaxation of lower oesophageal sphincter" EXACT [DOID:9164] @@ -182089,7 +182115,7 @@ subset: orphanet_rare {source="Orphanet:929"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "achalasia microcephaly" EXACT [DOID:0050796] -synonym: "achalasia-microcephaly syndrome" EXACT [DOID:0050796, OMIM:200450] +synonym: "achalasia-microcephaly syndrome" EXACT [DOID:0050796, OMIM:200450, Orphanet:929] xref: DOID:0050796 {source="MONDO:equivalentTo"} xref: GARD:456 {source="MONDO:GARD"} xref: ICD10CM:Q39.5 {source="Orphanet:929/attributed", source="Orphanet:929/ntbt", source="Orphanet:929"} @@ -182116,9 +182142,9 @@ subset: orphanet_rare {source="Orphanet:931"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acheiropodia" EXACT [DOID:0050603, OMIM:200500] -synonym: "acheiropody" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:200500, Orphanet:931] -synonym: "acheiropody, Brazilian type" RELATED [OMIM:200500] -synonym: "ACHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200500] +synonym: "acheiropody" EXACT CLINGEN_LABEL [DOID:0050603, MONDO:Lexical, OMIM:200500] +synonym: "acheiropody, Brazilian type" RELATED [] +synonym: "ACHP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "horn-Kolb syndrome" EXACT [DOID:0050603] xref: DOID:0050603 {source="MONDO:equivalentTo"} xref: GARD:376 {source="MONDO:GARD"} @@ -182144,12 +182170,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93299"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACG1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200600] +synonym: "ACG1A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "achondrogenesis Houston-Harris type" EXACT [DOID:0080054] -synonym: "achondrogenesis type 1A" RELATED [Orphanet:93299] +synonym: "achondrogenesis type 1A" RELATED [] synonym: "achondrogenesis, Houston-Harris type" EXACT [OMIM:200600, Orphanet:93299] -synonym: "achondrogenesis, type 1A" RELATED [OMIM:200600] -synonym: "achondrogenesis, type IA" RELATED [MONDO:Lexical, OMIM:200600] +synonym: "achondrogenesis, type 1A" RELATED [] +synonym: "achondrogenesis, type IA" RELATED [MONDO:Lexical] synonym: "Houston-Harris achondrogenesis" RELATED [GARD:0000459] xref: DOID:0080054 {source="MONDO:equivalentTo"} xref: GARD:459 {source="MONDO:GARD"} @@ -182178,17 +182204,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93296"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACG2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:200610] -synonym: "achondrogenesis type 2" RELATED [Orphanet:93296] -synonym: "achondrogenesis type II" EXACT CLINGEN_LABEL [] +synonym: "ACG2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "achondrogenesis type 2" RELATED [] +synonym: "achondrogenesis type II" EXACT CLINGEN_LABEL [DOID:0080056] synonym: "achondrogenesis, Langer-Saldino type" EXACT [OMIM:200610, Orphanet:93296] -synonym: "achondrogenesis, type 2" RELATED [OMIM:200610] -synonym: "achondrogenesis, type IB" RELATED [OMIM:200610] -synonym: "achondrogenesis, type IB, formerly" RELATED [OMIM:200610] -synonym: "achondrogenesis, type II" RELATED [MONDO:Lexical, OMIM:200610] -synonym: "achondrogenesis, type II or hypochondrogenesis" EXACT [OMIM:200610, OMIM:genemap2] -synonym: "chondrogenesis imperfecta" RELATED [OMIM:200610] -synonym: "hypochondrogenesis" RELATED [OMIM:200610] +synonym: "achondrogenesis, type 2" RELATED [] +synonym: "achondrogenesis, type IB" RELATED [] +synonym: "achondrogenesis, type IB, formerly" RELATED [] +synonym: "achondrogenesis, type II" RELATED [MONDO:Lexical] +synonym: "achondrogenesis, type II or hypochondrogenesis" EXACT [] +synonym: "chondrogenesis imperfecta" RELATED [] +synonym: "hypochondrogenesis" RELATED [] xref: DOID:0080056 {source="MONDO:equivalentTo"} xref: GARD:8713 {source="MONDO:GARD"} xref: ICD10CM:Q77.0 {source="Orphanet:93296", source="Orphanet:93296/attributed", source="Orphanet:93296/ntbt"} @@ -182221,19 +182247,19 @@ subset: orphanet_rare {source="Orphanet:2098"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "achondrogenesis type II (formerly)" RELATED [GARD:0001300] -synonym: "achondrogenesis, Brazilian" RELATED [OMIM:200700] -synonym: "achondrogenesis, type II" RELATED [OMIM:200700] -synonym: "achondrogenesis, type II, formerly" RELATED [OMIM:200700] -synonym: "acromesomelic dysplasia 2A" EXACT [OMIM:200700, OMIM:genemap2] -synonym: "acromesomelic dysplasia, Grebe type" EXACT [OMIM:200700] +synonym: "achondrogenesis, Brazilian" RELATED [] +synonym: "achondrogenesis, type II" RELATED [] +synonym: "achondrogenesis, type II, formerly" RELATED [] +synonym: "acromesomelic dysplasia 2A" EXACT [OMIM:200700] +synonym: "acromesomelic dysplasia, Grebe type" EXACT [DOID:0080052, OMIM:200700, Orphanet:2098] synonym: "AMDG" RELATED ABBREVIATION [GARD:0001300] synonym: "Brazilian achondrogenesis" RELATED [GARD:0001300] synonym: "chondrodysplasia, Grebe type" EXACT [OMIM:200700, Orphanet:2098] -synonym: "GREBE chondrodysplasia" EXACT [DOID:0080052] -synonym: "Grebe chondrodysplasia" EXACT [OMIM:200700] +synonym: "GREBE chondrodysplasia" EXACT [DOID:0080052, OMIM:200700] +synonym: "Grebe chondrodysplasia" EXACT [DOID:0080052, OMIM:200700] synonym: "Grebe dysplasia" EXACT [OMIM:200700] synonym: "Grebe syndrome" RELATED [GARD:0001300] -synonym: "hypochondrogenesis" RELATED [NCIT:C3816] +synonym: "hypochondrogenesis" RELATED [] synonym: "Langer-Saldino achondrogenesis" EXACT [NCIT:C3816] synonym: "type II achondrogenesis" EXACT [NCIT:C3816] xref: DOID:0080052 {source="MONDO:equivalentTo"} @@ -182267,16 +182293,16 @@ synonym: "achondroplasia and severe combined immunodeficiency" RELATED [GARD:000 synonym: "achondroplasia and Swiss type agammaglobulinemia" RELATED [GARD:0000463] synonym: "achondroplasia and Swiss-type agammaglobulinemia" RELATED [GARD:0000463] synonym: "achondroplasia so-called and severe combined immunodeficiency" RELATED [GARD:0002988] -synonym: "achondroplasia, so-called, and severe combined immunodeficiency" RELATED [OMIM:200900] +synonym: "achondroplasia, so-called, and severe combined immunodeficiency" RELATED [] synonym: "achondroplasia-SCID syndrome" EXACT [Orphanet:935] synonym: "achondroplasia-severe combined immunodeficiency syndrome" EXACT [Orphanet:935] synonym: "achondroplasia-Swiss type agammaglobulinemia syndrome" EXACT [Orphanet:935] synonym: "agammaglobulinemia and achondroplasia" RELATED [GARD:0000463] synonym: "immunodeficiency-short limb dwarfism syndrome" EXACT [Orphanet:935] synonym: "short limb skeletal dysplasia with SCID" EXACT [Orphanet:935] -synonym: "short-limb skeletal dysplasia with severe combined immunodeficiency" EXACT [GARD:0002988, OMIM:200900] +synonym: "short-limb skeletal dysplasia with severe combined immunodeficiency" EXACT [GARD:0002988, icd11.foundation:469016488, OMIM:200900, Orphanet:935] synonym: "SLSD with SCID" RELATED [GARD:0002988] -synonym: "Slsd with SCID" RELATED [OMIM:200900] +synonym: "Slsd with SCID" RELATED [] xref: GARD:2988 {source="MONDO:GARD"} xref: ICD10CM:D82.2 {source="Orphanet:935", source="Orphanet:935/specific", source="Orphanet:935/e"} xref: icd11.foundation:469016488 {source="MONDO:equivalentTo"} @@ -182321,12 +182347,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2561"} subset: orphanet_rare {source="Orphanet:2561"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ackerman fused molar rooth syndrome" EXACT [Orphanet:2561] -synonym: "Ackerman syndrome" EXACT [OMIM:200970] -synonym: "glaucoma, juvenile, with unusual upper lip and dental roots" RELATED [OMIM:200970] +synonym: "Ackerman fused molar rooth syndrome" EXACT [] +synonym: "Ackerman syndrome" EXACT [icd11.foundation:1946127088, OMIM:200970] +synonym: "glaucoma, juvenile, with unusual upper lip and dental roots" RELATED [] synonym: "juvenile glaucoma with unusual upper lip and dental roots" RELATED [GARD:0000469] -synonym: "molar roots, pyramidal, with juvenile glaucoma and unusual upper lip" RELATED [OMIM:200970] -synonym: "pyramidal molar-glaucoma-upper abnormal lip syndrome" EXACT [Orphanet:2561] +synonym: "molar roots, pyramidal, with juvenile glaucoma and unusual upper lip" RELATED [] +synonym: "pyramidal molar-glaucoma-upper abnormal lip syndrome" EXACT [] synonym: "pyramidal molars, glaucoma, abnormal upper lip" RELATED [GARD:0000469] xref: GARD:469 {source="MONDO:GARD"} xref: ICD10CM:K00.2 {source="Orphanet:2561", source="Orphanet:2561/attributed", source="Orphanet:2561/ntbt"} @@ -182354,11 +182380,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acro-renal-uterine-mandibular syndrome" RELATED [GARD:0000480] synonym: "acrorenal mandibular syndrome" RELATED [GARD:0000480] -synonym: "acrorenal-mandibular syndrome" RELATED [OMIM:200980] -synonym: "acrorenal-uterine-mandibular syndrome" RELATED [OMIM:200980] +synonym: "acrorenal-mandibular syndrome" RELATED [] +synonym: "acrorenal-uterine-mandibular syndrome" RELATED [] synonym: "split hand split foot mandibular hypoplasia" RELATED [GARD:0000480] synonym: "split hand/split foot-mandibular hypoplasia syndrome" EXACT [Orphanet:958] -synonym: "split-hand and split-foot with mandibular hypoplasia" RELATED [OMIM:200980] +synonym: "split-hand and split-foot with mandibular hypoplasia" RELATED [] xref: GARD:480 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:958", source="Orphanet:958/attributed", source="Orphanet:958/ntbt"} xref: icd11.foundation:879242648 {source="MONDO:equivalentTo"} @@ -182384,12 +182410,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly" RELATED [GARD:0005721] synonym: "ACLS" EXACT ABBREVIATION [DOID:9250, MONDO:Lexical, OMIM:200990] -synonym: "acrocallosal syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:200990] +synonym: "acrocallosal syndrome" EXACT CLINGEN_LABEL [DOID:9250, icd11.foundation:1286493807, MONDO:Lexical, NCIT:C84531, OMIM:200990, Orphanet:36] synonym: "acrocallosal syndrome, Schinzel type" RELATED [GARD:0005721] synonym: "ACS" EXACT ABBREVIATION [Orphanet:36] -synonym: "hallux Duplication, postaxial polydactyly, and absence of corpus callosum" RELATED [OMIM:200990] -synonym: "Joubert syndrome 12" RELATED [OMIM:200990] -synonym: "Joubert syndrome 12/15, digenic" RELATED [OMIM:200990] +synonym: "hallux Duplication, postaxial polydactyly, and absence of corpus callosum" RELATED [] +synonym: "Joubert syndrome 12" RELATED [] +synonym: "Joubert syndrome 12/15, digenic" RELATED [] synonym: "Schinzel acrocallosal syndrome" EXACT [DOID:9250, OMIM:200990] synonym: "Schinzel syndrome 1" EXACT [DOID:9250, MTH:NOCODE] xref: DOID:9250 {source="MONDO:equivalentTo"} @@ -182427,8 +182453,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:221054"} subset: orphanet_rare {source="Orphanet:221054"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrocephalopolydactylous dysplasia" EXACT [OMIM:200995, Orphanet:221054] -synonym: "Elejalde syndrome" EXACT [OMIM:200995, Orphanet:221054] +synonym: "acrocephalopolydactylous dysplasia" EXACT [icd11.foundation:1177551296, OMIM:200995, Orphanet:221054] +synonym: "Elejalde syndrome" EXACT [icd11.foundation:1177551296, OMIM:200995] xref: GARD:2096 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:221054", source="Orphanet:221054/attributed", source="Orphanet:221054/ntbt"} xref: icd11.foundation:1177551296 {source="MONDO:equivalentTo"} @@ -182452,14 +182478,14 @@ subset: gard_rare {source="GARD:15128", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACPS 2" BROAD [OMIM:201000] -synonym: "acrocephalopolysyndactyly type 2" BROAD [OMIM:201000] -synonym: "Carpenter syndrome" BROAD [OMIM:201000, OMIM:genemap2] -synonym: "CARPENTER syndrome 1" RELATED [OMIM:201000] +synonym: "ACPS 2" BROAD [] +synonym: "acrocephalopolysyndactyly type 2" BROAD [] +synonym: "Carpenter syndrome" BROAD [] +synonym: "CARPENTER syndrome 1" RELATED [] synonym: "Carpenter syndrome 1" EXACT [MONDO:Lexical, OMIM:201000] synonym: "Carpenter syndrome caused by mutation in RAB23" EXACT [MONDO:design_pattern] -synonym: "Carpenter syndrome type 1" EXACT [MONDORULE:1, OMIM:201000] -synonym: "CRPT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201000] +synonym: "Carpenter syndrome type 1" EXACT [MONDORULE:1] +synonym: "CRPT1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "RAB23 Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RAB23-related Carpenter syndrome" EXACT CLINGEN_LABEL [] xref: GARD:15128 {source="MONDO:GARD"} @@ -182485,9 +182511,9 @@ subset: gard_rare {source="GARD:2549", source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:65798"} subset: rare synonym: "ACPS 4" EXACT [OMIM:201020] -synonym: "ACPS4" EXACT ABBREVIATION [Orphanet:65798] -synonym: "acrocephalopolysyndactyly type 4" EXACT [Orphanet:65798] -synonym: "acrocephalopolysyndactyly type IV" RELATED [OMIM:201020] +synonym: "ACPS4" EXACT ABBREVIATION [] +synonym: "acrocephalopolysyndactyly type 4" EXACT [OMIM:201020] +synonym: "acrocephalopolysyndactyly type IV" RELATED [] synonym: "Goodman camptodactyly" RELATED [GARD:0002549] synonym: "Goodman syndrome" EXACT [OMIM:201020] xref: GARD:2549 {source="MONDO:GARD"} @@ -182514,7 +182540,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:949"} subset: orphanet_rare {source="Orphanet:949"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrocraniofacial dysostosis" EXACT [OMIM:201050] +synonym: "acrocraniofacial dysostosis" EXACT [OMIM:201050, Orphanet:949] synonym: "Kaplan Plauchu Fitch syndrome" RELATED [GARD:0003075] synonym: "Kaplan-Plauchu-Fitch syndrome" EXACT [Orphanet:949] xref: GARD:3075 {source="MONDO:GARD"} @@ -182539,10 +182565,10 @@ subset: ordo_disorder {source="Orphanet:37"} subset: orphanet_rare {source="Orphanet:37"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrodermatitis enteropathica" EXACT CLINGEN_LABEL [] +synonym: "acrodermatitis enteropathica" EXACT CLINGEN_LABEL [DOID:0050605, icd11.foundation:1813939482, NCIT:C128802, Orphanet:37] synonym: "acrodermatitis enteropathica zinc deficiency type" RELATED [GARD:0005723] synonym: "acrodermatitis enteropathica, zinc deficiency type" EXACT [Orphanet:37] -synonym: "acrodermatitis enteropathica, zinc-deficiency type" RELATED [MONDO:Lexical, OMIM:201100] +synonym: "acrodermatitis enteropathica, zinc-deficiency type" RELATED [MONDO:Lexical] synonym: "ae" RELATED [GARD:0005723] synonym: "AEZ" EXACT ABBREVIATION [MONDO:Lexical, OMIM:201100, Orphanet:37] synonym: "Brandt syndrome" RELATED [GARD:0005723] @@ -182585,10 +182611,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:1788"} subset: orphanet_rare {source="Orphanet:1788"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrofacial dysostosis syndrome of Rodriguez" RELATED [OMIM:201170] -synonym: "acrofacial dysostosis, Rodríguez type" RELATED [Orphanet:1788] +synonym: "acrofacial dysostosis syndrome of Rodriguez" RELATED [] +synonym: "acrofacial dysostosis, Rodríguez type" RELATED [] synonym: "acrofacial dysostosis, syndrome of Rodriguez" EXACT [DOID:0060383] -synonym: "Rodriguez lethal acrofacial dysostosis syndrome" RELATED [OMIM:201170] +synonym: "Rodriguez lethal acrofacial dysostosis syndrome" RELATED [] xref: DOID:0060383 {source="MONDO:equivalentTo"} xref: GARD:496 {source="MONDO:GARD"} xref: ICD10CM:Q75.4 {source="Orphanet:1788", source="Orphanet:1788/attributed", source="Orphanet:1788/ntbt"} @@ -182617,15 +182643,15 @@ subset: orphanet_rare {source="Orphanet:1784"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acro fronto facio nasal dysostosis" RELATED [GARD:0000484] -synonym: "acrofrontofacionasal dysostosis 1" NARROW [OMIM:201180] +synonym: "acrofrontofacionasal dysostosis 1" NARROW [] synonym: "acrofrontofacionasal dysostosis syndrome" RELATED [GARD:0000484] -synonym: "acrofrontofacionasal dysostosis type 1" NARROW [MONDORULE:1, OMIM:201180] +synonym: "acrofrontofacionasal dysostosis type 1" NARROW [MONDORULE:1] synonym: "AFFN dysostosis" EXACT [DOID:0060226] -synonym: "Affn dysostosis 1" NARROW [OMIM:201180] -synonym: "cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly" RELATED [OMIM:201180] +synonym: "Affn dysostosis 1" NARROW [] +synonym: "cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly" RELATED [] synonym: "polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate" RELATED [GARD:0000484] -synonym: "polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate" RELATED [OMIM:201180] -synonym: "Richieri-Costa-Colletto syndrome" EXACT [DOID:0060226, Orphanet:1784] +synonym: "polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate" RELATED [] +synonym: "Richieri-Costa-Colletto syndrome" EXACT [DOID:0060226, icd11.foundation:700995487, Orphanet:1784] xref: DOID:0060226 {source="MONDO:equivalentTo"} xref: GARD:484 {source="MONDO:GARD"} xref: ICD10CM:Q75.1 {source="Orphanet:1784/attributed", source="Orphanet:1784/ntbt", source="Orphanet:1784"} @@ -182651,9 +182677,9 @@ subset: rare synonym: "acrogeria, Gottron type" EXACT [OMIM:201200, Orphanet:2500] synonym: "acrometageria" EXACT [OMIM:201200, Orphanet:2500] synonym: "familial acrogeria" RELATED [GARD:0006543] -synonym: "Gottron Syndrome" EXACT [NORD:1202] -synonym: "Gottron syndrome" EXACT [Orphanet:2500] -synonym: "Metageria" RELATED [OMIM:201200] +synonym: "Gottron Syndrome" EXACT [icd11.foundation:1607996977, NORD:1202, Orphanet:2500] +synonym: "Gottron syndrome" EXACT [icd11.foundation:1607996977, Orphanet:2500] +synonym: "Metageria" RELATED [] xref: GARD:6543 {source="MONDO:GARD"} xref: ICD10CM:L90.8 {source="Orphanet:2500/attributed", source="Orphanet:2500/ntbt", source="Orphanet:2500"} xref: icd11.foundation:1607996977 {source="MONDO:equivalentTo"} @@ -182681,10 +182707,10 @@ subset: orphanet_rare {source="Orphanet:968"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acromesomelic dwarfism" EXACT [DOID:0080051, Orphanet:968] -synonym: "acromesomelic dysplasia 2C, Hunter-Thompson type" EXACT [OMIM:201250, OMIM:genemap2] +synonym: "acromesomelic dysplasia 2C, Hunter-Thompson type" EXACT [] synonym: "acromesomelic dysplasia Hunter Thompson type" RELATED [GARD:0000506] -synonym: "acromesomelic dysplasia, Hunter-Thompson type" EXACT [MONDO:Lexical, OMIM:201250] -synonym: "AMDH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201250] +synonym: "acromesomelic dysplasia, Hunter-Thompson type" EXACT [DOID:0080051, MONDO:Lexical, OMIM:201250, Orphanet:968] +synonym: "AMDH" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080051 {source="MONDO:equivalentTo"} xref: GARD:506 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:968", source="Orphanet:968/attributed", source="Orphanet:968/ntbt"} @@ -182707,7 +182733,7 @@ subset: orphanet_rare {source="Orphanet:83467"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome" EXACT [Orphanet:83467] -synonym: "Morvan's fibrillary chorea" EXACT [Orphanet:83467] +synonym: "Morvan's fibrillary chorea" EXACT [] xref: EFO:1001897 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9766 {source="MONDO:GARD"} xref: ICD10CM:G60.8 {source="Orphanet:83467", source="Orphanet:83467/ntbt"} @@ -182748,11 +182774,11 @@ subset: ordo_disorder {source="Orphanet:199296"} subset: orphanet_rare {source="Orphanet:199296"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACTH deficiency, isolated" RELATED [MONDO:Lexical, OMIM:201400] -synonym: "adrenocorticotropic hormone deficiency" EXACT [MONDO:ambiguous, OMIM:201400] -synonym: "congenital isolated ACTH deficiency" RELATED [Orphanet:199296] +synonym: "ACTH deficiency, isolated" RELATED [MONDO:Lexical] +synonym: "adrenocorticotropic hormone deficiency" EXACT [DOID:0080150, MONDO:ambiguous, OMIM:201400] +synonym: "congenital isolated ACTH deficiency" RELATED [] synonym: "congenital isolated adrenocorticotropic hormone deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "IAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201400] +synonym: "IAD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "isolated ACTH deficiency" RELATED [GARD:0005727] synonym: "isolated adrenocorticotropic hormone deficiency" RELATED [GARD:0005727] xref: DOID:0080150 {source="MONDO:equivalentTo"} @@ -182787,19 +182813,19 @@ subset: orphanet_rare {source="Orphanet:42"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACADM deficiency" EXACT [OMIM:201450, Orphanet:42] -synonym: "ACADMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201450] +synonym: "ACADMD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "acyl-CoA dehydrogenase medium chain deficiency of" RELATED [GARD:0000540] -synonym: "Acyl-CoA dehydrogenase, medium chain, deficiency of" EXACT [OMIM:201450, OMIM:genemap2] +synonym: "Acyl-CoA dehydrogenase, medium chain, deficiency of" EXACT [] synonym: "acyl-CoA dehydrogenase, medium-chain deficiency" EXACT [NCIT:C84538] -synonym: "acyl-CoA dehydrogenase, medium-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201450] -synonym: "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency" EXACT [Orphanet:42] -synonym: "Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:201450] -synonym: "MCAD" EXACT ABBREVIATION [NCIT:C84538] +synonym: "acyl-CoA dehydrogenase, medium-chain, deficiency OF" RELATED [MONDO:Lexical] +synonym: "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency" EXACT [OMIM:201450, Orphanet:42] +synonym: "Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency" RELATED [] +synonym: "MCAD" EXACT ABBREVIATION [ICD10CM:E71.311, NCIT:C84538] synonym: "MCAD deficiency" EXACT [OMIM:201450, Orphanet:42] synonym: "MCADD" EXACT ABBREVIATION [Orphanet:42] -synonym: "Mcadh deficiency" RELATED [OMIM:201450] +synonym: "Mcadh deficiency" RELATED [] synonym: "medium chain acyl CoA dehydrogenase deficiency" RELATED [GARD:0000540] -synonym: "medium chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [] +synonym: "medium chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [DOID:0080153, icd11.foundation:627734797, Orphanet:42] synonym: "medium chain acyl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:42] synonym: "medium-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84538] synonym: "medium-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84538] @@ -182835,19 +182861,19 @@ subset: ordo_disorder {source="Orphanet:26792"} subset: orphanet_rare {source="Orphanet:26792"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACADS deficiency" EXACT [Orphanet:26792] -synonym: "Acads deficiency" RELATED [OMIM:201470] -synonym: "ACADSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201470] +synonym: "ACADS deficiency" EXACT [OMIM:201470, Orphanet:26792] +synonym: "Acads deficiency" RELATED [] +synonym: "ACADSD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "acyl-CoA dehydrogenase, short-chain deficiency" EXACT [NCIT:C84539] -synonym: "acyl-CoA dehydrogenase, short-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201470] -synonym: "lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:201470] -synonym: "SCAD" EXACT ABBREVIATION [NCIT:C84539] -synonym: "SCAD deficiency" EXACT [Orphanet:26792] -synonym: "Scad deficiency" RELATED [OMIM:201470] +synonym: "acyl-CoA dehydrogenase, short-chain, deficiency OF" RELATED [MONDO:Lexical] +synonym: "lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency" RELATED [] +synonym: "SCAD" EXACT ABBREVIATION [ICD10CM:E71.312, NCIT:C84539] +synonym: "SCAD deficiency" EXACT [OMIM:201470, Orphanet:26792] +synonym: "Scad deficiency" RELATED [] synonym: "SCADD" EXACT ABBREVIATION [Orphanet:26792] -synonym: "Scadh deficiency" RELATED [OMIM:201470] -synonym: "Short Chain Acyl CoA Dehydrogenase Deficiency" EXACT [NORD:1709] -synonym: "short chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [] +synonym: "Scadh deficiency" RELATED [] +synonym: "Short Chain Acyl CoA Dehydrogenase Deficiency" EXACT [ICD10CM:E71.312, NORD:1709] +synonym: "short chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [DOID:0080154, icd11.foundation:180018315, Orphanet:26792] synonym: "short-chain acyl-CoA dehydrogenase deficiency" RELATED [GARD:0004822] synonym: "short-chain acyl-CoA dehydrogenase deficiency (SCAD)" EXACT [NCIT:C84539] synonym: "short-chain acyl-coenzyme A dehydrogenase deficiency" RELATED [GARD:0004822] @@ -182883,15 +182909,15 @@ subset: ordo_disorder {source="Orphanet:26793"} subset: orphanet_rare {source="Orphanet:26793"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACADVLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201475] +synonym: "ACADVLD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "acyl-CoA dehydrogenase, very long-chain deficiency" EXACT [NCIT:C98647] -synonym: "acyl-CoA dehydrogenase, very long-chain, deficiency OF" RELATED [MONDO:Lexical, OMIM:201475] +synonym: "acyl-CoA dehydrogenase, very long-chain, deficiency OF" RELATED [MONDO:Lexical] synonym: "Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)" EXACT [NORD:1827] -synonym: "very long chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [] +synonym: "very long chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [DOID:0080155, icd11.foundation:907810567, Orphanet:26793] synonym: "very long-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C98647] synonym: "very long-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C98647] -synonym: "VLCAD" EXACT ABBREVIATION [NCIT:C98647] -synonym: "VLCAD deficiency" EXACT [OMIM:201475, Orphanet:26793] +synonym: "VLCAD" EXACT ABBREVIATION [ICD10CM:E71.310, NCIT:C98647] +synonym: "VLCAD deficiency" EXACT [DOID:0080155, OMIM:201475, Orphanet:26793] synonym: "VLCADD" EXACT ABBREVIATION [Orphanet:26793] xref: DOID:0080155 {source="MONDO:equivalentTo"} xref: GARD:5508 {source="MONDO:GARD"} @@ -182926,7 +182952,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2952"} subset: orphanet_rare {source="Orphanet:2952"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adducted thumbs syndrome" RELATED [OMIM:201550] +synonym: "adducted thumbs syndrome" RELATED [] xref: GARD:10277 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:2952", source="Orphanet:2952/attributed", source="Orphanet:2952/ntbt"} xref: MEDGEN:929724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -182946,13 +182972,13 @@ subset: ordo_disorder {source="Orphanet:90790"} subset: orphanet_rare {source="Orphanet:90790"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adrenal hyperplasia 1" RELATED [OMIM:201710] +synonym: "adrenal hyperplasia 1" RELATED [] synonym: "CLAH" EXACT ABBREVIATION [Orphanet:90790] synonym: "congenital adrenal hyperplasia lipoid" RELATED [GARD:0001465] -synonym: "LCAH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201710] -synonym: "lipoid adrenal hyperplasia" EXACT [OMIM:201710, OMIM:genemap2] -synonym: "lipoid congenital adrenal hyperplasia" RELATED [MONDO:Lexical, OMIM:201710] -synonym: "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism" RELATED [OMIM:201710] +synonym: "LCAH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lipoid adrenal hyperplasia" EXACT [] +synonym: "lipoid congenital adrenal hyperplasia" RELATED [MONDO:Lexical] +synonym: "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism" RELATED [] xref: GARD:1465 {source="MONDO:GARD"} xref: ICD10CM:E25.0 {source="Orphanet:90790", source="Orphanet:90790/attributed", source="Orphanet:90790/ntbt"} xref: MEDGEN:83341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -182976,8 +183002,8 @@ subset: gard_rare {source="GARD:16665", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:63269"} subset: rare -synonym: "ABS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:201750] -synonym: "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:201750] +synonym: "ABS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C178415, OMIM:201750] synonym: "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis" EXACT [Orphanet:63269] xref: GARD:16665 {source="MONDO:GARD"} xref: MEDGEN:461449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -183005,14 +183031,14 @@ subset: orphanet_rare {source="Orphanet:90791"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "3-beta HSD deficiency" EXACT [NCIT:C131088] -synonym: "3-Beta-HSD deficiency" RELATED [OMIM:201810] -synonym: "3-Beta-hydroxysteroid dehydrogenase deficiency" RELATED [OMIM:201810] -synonym: "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF" RELATED [OMIM:201810] +synonym: "3-Beta-HSD deficiency" RELATED [] +synonym: "3-Beta-hydroxysteroid dehydrogenase deficiency" RELATED [] +synonym: "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF" RELATED [] synonym: "3b-hydroxysteroid dehydrogenase deficiency" RELATED [GARD:0009152] -synonym: "adrenal hyperplasia 2" RELATED [OMIM:201810] +synonym: "adrenal hyperplasia 2" RELATED [] synonym: "adrenal hyperplasia II" RELATED [GARD:0009152] -synonym: "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency" RELATED [OMIM:201810] -synonym: "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency" RELATED [OMIM:201810] +synonym: "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency" RELATED [] +synonym: "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency" RELATED [] synonym: "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" EXACT [Orphanet:90791] synonym: "HSD3B deficiency" RELATED [GARD:0009152] synonym: "type II 3-beta-hydroxysteroid dehydrogenase deficiency" RELATED [GARD:0009152] @@ -183050,17 +183076,17 @@ subset: orphanet_rare {source="Orphanet:90794"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "21 hydroxylase deficiency" RELATED [GARD:0005757] -synonym: "21-hydroxylase deficiency" RELATED [OMIM:201910] -synonym: "21-OHD" EXACT [NCIT:C131087] -synonym: "adrenal hyperplasia 3" RELATED [OMIM:201910] -synonym: "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency" RELATED [OMIM:201910] +synonym: "21-hydroxylase deficiency" RELATED [] +synonym: "21-OHD" EXACT ABBREVIATION [NCIT:C131087] +synonym: "adrenal hyperplasia 3" RELATED [] +synonym: "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency" RELATED [] synonym: "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency" RELATED [GARD:0005757] synonym: "classic 21-OHD CAH" EXACT [Orphanet:90794] -synonym: "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" EXACT CLINGEN_LABEL [] -synonym: "congenital adrenal hyperplasia 1" RELATED [OMIM:201910] +synonym: "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" EXACT CLINGEN_LABEL [Orphanet:90794] +synonym: "congenital adrenal hyperplasia 1" RELATED [] synonym: "congenital adrenal hyperplasia due to 21-hydroxylase deficiency" RELATED [GARD:0005757] -synonym: "CYP21 deficiency" RELATED [GARD:0005757, OMIM:201910] -synonym: "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency" RELATED [OMIM:201910] +synonym: "CYP21 deficiency" RELATED [GARD:0005757] +synonym: "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency" RELATED [] xref: GARD:12665 {source="MONDO:GARD"} xref: ICD10CM:E25.0 {source="Orphanet:90794", source="Orphanet:90794/attributed", source="Orphanet:90794/ntbt"} xref: MEDGEN:424833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -183093,17 +183119,17 @@ subset: ordo_disorder {source="Orphanet:90795"} subset: orphanet_rare {source="Orphanet:90795"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010] -synonym: "adrenal hyperplasia 4" RELATED [OMIM:202010] +synonym: "11-Beta-Hydroxylase deficiency" RELATED [] +synonym: "adrenal hyperplasia 4" RELATED [] synonym: "adrenal hyperplasia hypertensive form" RELATED [GARD:0005658] synonym: "adrenal hyperplasia IV" RELATED [GARD:0005658] -synonym: "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency" EXACT [OMIM:202010, OMIM:genemap2] -synonym: "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency" RELATED [OMIM:202010] -synonym: "adrenal hyperplasia, hypertensive form" RELATED [OMIM:202010] +synonym: "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency" EXACT [] +synonym: "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency" RELATED [] +synonym: "adrenal hyperplasia, hypertensive form" RELATED [] synonym: "CAH due to 11-beta-hydroxylase deficiency" EXACT [Orphanet:90795] synonym: "CYP11B1 deficiency" EXACT [Orphanet:90795] -synonym: "P450C11B1 deficiency" RELATED [OMIM:202010] -synonym: "steroid 11-Beta-Hydroxylase deficiency" RELATED [OMIM:202010] +synonym: "P450C11B1 deficiency" RELATED [] +synonym: "steroid 11-Beta-Hydroxylase deficiency" RELATED [] xref: GARD:5658 {source="MONDO:GARD"} xref: ICD10CM:E25.0 {source="Orphanet:90795", source="Orphanet:90795/attributed", source="Orphanet:90795/ntbt"} xref: icd11.foundation:791376680 {source="MONDO:equivalentTo"} @@ -183137,13 +183163,13 @@ subset: ordo_disorder {source="Orphanet:90793"} subset: orphanet_rare {source="Orphanet:90793"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "17,20-lyase deficiency, isolated" RELATED [OMIM:202110] -synonym: "17-Alpha-Hydroxylase deficiency" RELATED [OMIM:202110] -synonym: "17-alpha-hydroxylase/17,20-lyase deficiency" EXACT [OMIM:202110, OMIM:genemap2] -synonym: "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete" RELATED [OMIM:202110] -synonym: "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial" RELATED [OMIM:202110] -synonym: "adrenal hyperplasia 5" RELATED [OMIM:202110] -synonym: "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency" RELATED [OMIM:202110] +synonym: "17,20-lyase deficiency, isolated" RELATED [] +synonym: "17-Alpha-Hydroxylase deficiency" RELATED [] +synonym: "17-alpha-hydroxylase/17,20-lyase deficiency" EXACT [] +synonym: "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete" RELATED [] +synonym: "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial" RELATED [] +synonym: "adrenal hyperplasia 5" RELATED [] +synonym: "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency" RELATED [] synonym: "CAH due to 17-alpha-hydroxylase deficiency" EXACT [Orphanet:90793] synonym: "combined 17-hydroxylase/17,20-lyase deficiency" EXACT [Orphanet:90793] synonym: "congenital adrenal hyperplasia type 5" RELATED [GARD:0001469] @@ -183178,7 +183204,7 @@ subset: ordo_disorder {source="Orphanet:95700"} subset: orphanet_rare {source="Orphanet:95700"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone" RELATED [OMIM:202150] +synonym: "adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone" RELATED [] synonym: "familial adrenal hypoplasia with absent pituitary LH" EXACT [Orphanet:95700] synonym: "familial adrenal hypoplasia, miniature type" EXACT [Orphanet:95700] xref: GARD:16839 {source="MONDO:GARD"} @@ -183220,8 +183246,8 @@ subset: ordo_disorder {source="Orphanet:361"} subset: orphanet_rare {source="Orphanet:361"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202200] -synonym: "glucocorticoid deficiency" BROAD [MONDO:Lexical, MONDORULE:1, OMIM:202200] +synonym: "GCCD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "glucocorticoid deficiency" BROAD [MONDO:Lexical, MONDORULE:1] xref: DOID:0080620 {source="MONDO:equivalentTo"} xref: GARD:2498 {source="MONDO:GARD"} xref: ICD10CM:E27.1 {source="Orphanet:361/attributed", source="Orphanet:361/ntbt", source="Orphanet:361"} @@ -183246,10 +183272,10 @@ subset: gard_rare {source="GARD:15132", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202300] +synonym: "ADCC" RELATED ABBREVIATION [MONDO:Lexical] synonym: "adrenocortical carcinoma, hereditary" EXACT [MONDO:Lexical, OMIM:202300] synonym: "adrenocortical carcinoma, paediatric" RELATED OMO:0003005 [] -synonym: "adrenocortical carcinoma, pediatric" RELATED [OMIM:202300] +synonym: "adrenocortical carcinoma, pediatric" RELATED [] synonym: "hereditary adrenal cortex carcinoma" EXACT [MONDO:patterns/hereditary] xref: GARD:15132 {source="MONDO:GARD"} xref: MEDGEN:348508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -183269,7 +183295,7 @@ subset: gard_rare {source="GARD:15133", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "adrenocortical unresponsiveness to ACTH with postreceptor defect" EXACT [OMIM:202355] -synonym: "familial glucocorticoid deficiency due to defect distal to ACTH receptor" RELATED [OMIM:202355] +synonym: "familial glucocorticoid deficiency due to defect distal to ACTH receptor" RELATED [] xref: GARD:15133 {source="MONDO:GARD"} xref: MEDGEN:348507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565971 {source="MONDO:equivalentTo"} @@ -183284,9 +183310,9 @@ name: peroxisome biogenesis disorder 2B subset: gard_rare {source="GARD:15134", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PBD2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202370] -synonym: "peroxisome biogenesis disorder 2B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:202370] -synonym: "peroxisome biogenesis disorder type 2B" EXACT [MONDORULE:4, OMIM:202370] +synonym: "PBD2B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 2B" EXACT CLINGEN_LABEL [DOID:0080622, MONDO:Lexical, NCIT:C155751, OMIM:202370] +synonym: "peroxisome biogenesis disorder type 2B" EXACT [MONDORULE:4] xref: DOID:0080622 {source="MONDO:equivalentTo"} xref: GARD:15134 {source="MONDO:GARD"} xref: MEDGEN:763148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -183312,11 +183338,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "afibrinogenemia" RELATED [GARD:0005761] synonym: "afibrinogenemia congenital" RELATED [GARD:0005761] -synonym: "afibrinogenemia, congenital" RELATED [OMIM:202400] -synonym: "factor I deficiency" NARROW [DOID:2236] -synonym: "familial afibrinogenemia" RELATED [Orphanet:98880] +synonym: "afibrinogenemia, congenital" RELATED [] +synonym: "factor I deficiency" NARROW [] +synonym: "familial afibrinogenemia" RELATED [] synonym: "fibrinogen deficiency" EXACT [DOID:2236] -synonym: "hypofibrinogenemia, congenital" RELATED [OMIM:202400] +synonym: "hypofibrinogenemia, congenital" RELATED [] xref: DOID:2236 {source="MONDO:equivalentTo"} xref: GARD:5761 {source="MONDO:GARD"} xref: ICD10CM:D68.2 {source="DOID:2236", source="Orphanet:98880/attributed", source="Orphanet:98880/ntbt", source="Orphanet:98880"} @@ -183378,12 +183404,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "agnathia-holoprosencephaly" RELATED [GARD:0009126] synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT [DOID:0060341, Orphanet:990] -synonym: "agnathia-otocephaly complex" EXACT [MONDO:Lexical, OMIM:202650] -synonym: "AGOTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:202650] -synonym: "Dysgnathia Complex agnathia-holoprosencephaly" RELATED [OMIM:202650] +synonym: "agnathia-otocephaly complex" EXACT [DOID:0060341, MONDO:Lexical, OMIM:202650] +synonym: "AGOTC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Dysgnathia Complex agnathia-holoprosencephaly" RELATED [] synonym: "dysgnathia complex agnathia-holoprosencephaly" EXACT [DOID:0060341, OMIM:202650] synonym: "holoprosencephaly-agnathia" EXACT [DOID:0060341, OMIM:202650] -synonym: "otocephaly" EXACT [DOID:0060341, OMIM:202650] +synonym: "otocephaly" EXACT [DOID:0060341, NCIT:C124568, OMIM:202650] xref: DOID:0060341 {source="MONDO:equivalentTo"} xref: GARD:9126 {source="MONDO:GARD"} xref: ICD10CM:Q18.2 {source="DOID:0060341"} @@ -183411,9 +183437,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:991"} subset: orphanet_rare {source="Orphanet:991"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "agonadism with multiple internal malformations" RELATED [OMIM:202660] +synonym: "agonadism with multiple internal malformations" RELATED [] synonym: "Kennerknecht sorgo Oberhoffer syndrome" RELATED [GARD:0003086] -synonym: "PAGOD syndrome" EXACT [OMIM:202660] +synonym: "PAGOD syndrome" EXACT [OMIM:202660, Orphanet:991] synonym: "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia" RELATED [GARD:0003086] synonym: "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome" EXACT [Orphanet:991] xref: GARD:3086 {source="MONDO:GARD"} @@ -183466,8 +183492,8 @@ subset: orphanet_rare {source="Orphanet:3199"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus" RELATED [GARD:0005026] -synonym: "ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus" RELATED [OMIM:202900] -synonym: "Stimmler syndrome" EXACT [OMIM:202900] +synonym: "ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus" RELATED [] +synonym: "Stimmler syndrome" EXACT [OMIM:202900, Orphanet:3199] xref: GARD:5026 {source="MONDO:GARD"} xref: MEDGEN:348505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565968 {source="MONDO:equivalentTo"} @@ -183490,9 +183516,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2007"} subset: orphanet_rare {source="Orphanet:2007"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alar-nasal cartilages, coloboma of, with telecanthus" RELATED [OMIM:203000] +synonym: "alar-nasal cartilages, coloboma of, with telecanthus" RELATED [] synonym: "coloboma of alar-nasal cartilages with telecanthus" RELATED [GARD:0000588] -synonym: "frontonasal dysplasia with alar clefts" RELATED [OMIM:203000] +synonym: "frontonasal dysplasia with alar clefts" RELATED [] xref: GARD:588 {source="MONDO:GARD"} xref: ICD10CM:Q75.8 {source="Orphanet:2007", source="Orphanet:2007/attributed", source="Orphanet:2007/ntbt"} xref: MEDGEN:348504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -183512,18 +183538,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79431"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "albinism 1" RELATED [OMIM:203100] -synonym: "albinism, oculocutaneous, type 1A" RELATED [OMIM:203100] -synonym: "albinism, oculocutaneous, type IA" RELATED [MONDO:Lexical, OMIM:203100] -synonym: "OCA1A" EXACT ABBREVIATION [DOID:0070094, MONDO:Lexical, OMIM:203100, Orphanet:79431] +synonym: "albinism 1" RELATED [] +synonym: "albinism, oculocutaneous, type 1A" RELATED [] +synonym: "albinism, oculocutaneous, type IA" RELATED [MONDO:Lexical] +synonym: "OCA1A" EXACT ABBREVIATION [DOID:0070094, MONDO:Lexical, NCIT:C168731, OMIM:203100, Orphanet:79431] synonym: "oculocutaneous albinism caused by mutation in TYR" EXACT [] synonym: "oculocutaneous albinism caused by mutation in Tyr" EXACT [MONDO:design_pattern] -synonym: "oculocutaneous albinism type IA" RELATED [DOID:0070094] -synonym: "oculocutaneous albinism, type 1" RELATED [OMIM:203100] +synonym: "oculocutaneous albinism type IA" RELATED [] +synonym: "oculocutaneous albinism, type 1" RELATED [] synonym: "oculocutaneous albinism, tyrosinase-negative" EXACT [DOID:0070094, OMIM:203100] synonym: "TYR oculocutaneous albinism" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Tyr oculocutaneous albinism" EXACT [MONDO:design_pattern] -synonym: "tyrosinase-negative oculocutaneous albinism" EXACT [Orphanet:79431] +synonym: "tyrosinase-negative oculocutaneous albinism" EXACT [icd11.foundation:1168847652, Orphanet:79431] xref: DOID:0070094 {source="MONDO:equivalentTo"} xref: GARD:16721 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="Orphanet:79431/attributed", source="Orphanet:79431/ntbt", source="Orphanet:79431"} @@ -183555,18 +183581,18 @@ subset: ordo_disorder {source="Orphanet:79432"} subset: orphanet_rare {source="Orphanet:79432"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "albinism 2" RELATED [OMIM:203200] -synonym: "albinism, Brown oculocutaneous" RELATED [OMIM:203200] +synonym: "albinism 2" RELATED [] +synonym: "albinism, Brown oculocutaneous" RELATED [] synonym: "albinism, oculocutaneous, type 2" RELATED [GARD:0004038] -synonym: "albinism, oculocutaneous, type II" RELATED [MONDO:Lexical, OMIM:203200] -synonym: "albinism, oculocutaneous, type II, modifier of" EXACT [OMIM:203200, OMIM:genemap2] +synonym: "albinism, oculocutaneous, type II" RELATED [MONDO:Lexical] +synonym: "albinism, oculocutaneous, type II, modifier of" EXACT [] synonym: "Albinoidism" RELATED [GARD:0004038] -synonym: "Brown oculocutaneous albinism" RELATED [OMIM:203200] +synonym: "Brown oculocutaneous albinism" RELATED [] synonym: "OCA2" EXACT ABBREVIATION [DOID:0070096, MONDO:Lexical, OMIM:203200, Orphanet:79432] -synonym: "oculocutaneous albinism type 2" EXACT CLINGEN_LABEL [] -synonym: "oculocutaneous albinism type II" RELATED [DOID:0070096] +synonym: "oculocutaneous albinism type 2" EXACT CLINGEN_LABEL [icd11.foundation:2019316252, Orphanet:79432] +synonym: "oculocutaneous albinism type II" RELATED [] synonym: "oculocutaneous albinism tyrosinase positive" RELATED [GARD:0004038] -synonym: "oculocutaneous albinism, type 2" RELATED [OMIM:203200] +synonym: "oculocutaneous albinism, type 2" RELATED [] synonym: "oculocutaneous albinism, tyrosinase-positive" EXACT [DOID:0070096, OMIM:203200] synonym: "tyrosinase-positive oculocutaneous albinism" RELATED [GARD:0004038] xref: DOID:0070096 {source="MONDO:equivalentTo"} @@ -183593,21 +183619,21 @@ subset: ordo_disorder {source="Orphanet:79433"} subset: orphanet_rare {source="Orphanet:79433"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "albinism 3" RELATED [OMIM:203290] -synonym: "albinism, oculocutaneous, type 3" RELATED [GARD:0004039, OMIM:203290] -synonym: "albinism, oculocutaneous, type III" RELATED [MONDO:Lexical, OMIM:203290] +synonym: "albinism 3" RELATED [] +synonym: "albinism, oculocutaneous, type 3" RELATED [GARD:0004039] +synonym: "albinism, oculocutaneous, type III" RELATED [MONDO:Lexical] synonym: "OCA3" EXACT ABBREVIATION [DOID:0070097, MONDO:Lexical, OMIM:203290, Orphanet:79433] synonym: "oculocutaneous albinism caused by mutation in TYRP1" EXACT [MONDO:design_pattern] -synonym: "oculocutaneous albinism type 3" EXACT CLINGEN_LABEL [] -synonym: "oculocutaneous albinism type III" RELATED [DOID:0070097] -synonym: "oculocutaneous albinism, type 3" RELATED [OMIM:203290] -synonym: "Red oculocutaneous albinism" EXACT [Orphanet:79433] +synonym: "oculocutaneous albinism type 3" EXACT CLINGEN_LABEL [icd11.foundation:1565320806, Orphanet:79433] +synonym: "oculocutaneous albinism type III" RELATED [] +synonym: "oculocutaneous albinism, type 3" RELATED [] +synonym: "Red oculocutaneous albinism" EXACT [icd11.foundation:1565320806, Orphanet:79433] synonym: "ROCA" RELATED ABBREVIATION [GARD:0009641] synonym: "rufous OCA" RELATED [GARD:0009641] -synonym: "rufous oculocutaneous albinism" EXACT [DOID:0070097, OMIM:203290, Orphanet:79433] +synonym: "rufous oculocutaneous albinism" EXACT [DOID:0070097, icd11.foundation:1565320806, OMIM:203290, Orphanet:79433] synonym: "TYRP1 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Xanthism" RELATED [GARD:0009641, OMIM:203290] -synonym: "xanthous oculocutaneous albinism" EXACT [Orphanet:79433] +synonym: "Xanthism" RELATED [GARD:0009641] +synonym: "xanthous oculocutaneous albinism" EXACT [icd11.foundation:1565320806, Orphanet:79433] xref: DOID:0070097 {source="MONDO:equivalentTo"} xref: GARD:4039 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="Orphanet:79433/attributed", source="Orphanet:79433/ntbt", source="Orphanet:79433"} @@ -183634,12 +183660,12 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18331", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells" RELATED [OMIM:203300] -synonym: "Delta storage pool disease" RELATED [OMIM:203300] -synonym: "Hermansky-Pudlak syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:203300] +synonym: "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells" RELATED [] +synonym: "Delta storage pool disease" RELATED [] +synonym: "Hermansky-Pudlak syndrome 1" EXACT CLINGEN_LABEL [DOID:0060539, MONDO:Lexical, NCIT:C150367, OMIM:203300] synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS1" EXACT [MONDO:design_pattern] -synonym: "Hermansky-Pudlak syndrome type 1" EXACT [DOID:0060539, MONDORULE:1, OMIM:203300] -synonym: "HPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203300] +synonym: "Hermansky-Pudlak syndrome type 1" EXACT [MONDORULE:1] +synonym: "HPS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HPS1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060539 {source="MONDO:equivalentTo"} xref: GARD:18331 {source="MONDO:GARD"} @@ -183667,10 +183693,10 @@ subset: ordo_disorder {source="Orphanet:94090"} subset: orphanet_rare {source="Orphanet:94090"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Php 2" RELATED [OMIM:203330] +synonym: "Php 2" RELATED [] synonym: "PHP II" RELATED [GARD:0010682] -synonym: "PHP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203330] -synonym: "pseudohypoparathyroidism, type II" RELATED [MONDO:Lexical, OMIM:203330] +synonym: "PHP2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pseudohypoparathyroidism, type II" RELATED [MONDO:Lexical] xref: GARD:10682 {source="MONDO:GARD"} xref: ICD10CM:E20.1 {source="Orphanet:94090", source="Orphanet:94090/attributed", source="Orphanet:94090/ntbt"} xref: icd11.foundation:1650158822 {source="MONDO:equivalentTo"} @@ -183696,9 +183722,9 @@ subset: orphanet_rare {source="Orphanet:2513"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "albinism-microcephaly digital anomalies syndrome" RELATED [GARD:0003604] -synonym: "albinism-microcephaly-digital anomalies syndrome" RELATED [OMIM:203340] +synonym: "albinism-microcephaly-digital anomalies syndrome" RELATED [] synonym: "Castro Gago-Pombo-Novo syndrome" EXACT [Orphanet:2513] -synonym: "microcephaly-albinism-digital anomalies syndrome" EXACT [OMIM:203340] +synonym: "microcephaly-albinism-digital anomalies syndrome" EXACT [OMIM:203340, Orphanet:2513] xref: GARD:3604 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2513", source="Orphanet:2513/attributed", source="Orphanet:2513/ntbt"} xref: MEDGEN:395372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -183720,25 +183746,25 @@ subset: rare synonym: "18 alpha hydroxylase deficiency" RELATED [GARD:0005660] synonym: "18 Hydroxylase deficiency" RELATED [GARD:0005660] synonym: "18-hydroxycorticosterone dehydrogenase deficiency" RELATED [] -synonym: "18-Hydroxylase deficiency" RELATED [OMIM:203400] +synonym: "18-Hydroxylase deficiency" RELATED [] synonym: "18-hydroxylase deficiency" RELATED [] -synonym: "aldosterone deficiency 1" RELATED [GARD:0005660, OMIM:203400] +synonym: "aldosterone deficiency 1" RELATED [GARD:0005660] synonym: "aldosterone deficiency due to 18-hydroxylase defect" RELATED [] synonym: "aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency" RELATED [] synonym: "aldosterone deficiency due to defect in 18 hydroxylase" RELATED [GARD:0005660] -synonym: "aldosterone deficiency due to defect in steroid 18-Hydroxylase" RELATED [OMIM:203400] +synonym: "aldosterone deficiency due to defect in steroid 18-Hydroxylase" RELATED [] synonym: "CAH - 18-hydroxylase deficiency" RELATED [] -synonym: "CMO 1 deficiency" RELATED [GARD:0005660, OMIM:203400] +synonym: "CMO 1 deficiency" RELATED [GARD:0005660] synonym: "CMO I deficiency" RELATED [] synonym: "CMO II deficiency" RELATED [] synonym: "corticosterone 18-monooxygenase deficiency" EXACT [] synonym: "corticosterone methyl oxidase type I deficiency" RELATED [] synonym: "corticosterone methyl oxidase type II deficiency" RELATED [] -synonym: "corticosterone methyloxidase type 1 deficiency" EXACT [GARD:0005660] -synonym: "corticosterone methyloxidase type I deficiency" RELATED [OMIM:203400] -synonym: "hyperreninemic hypoaldosteronism, familial, 1" RELATED [OMIM:203400] -synonym: "hypoaldosteronism, congenital, due to cmo i deficiency" EXACT [OMIM:203400, OMIM:genemap2] -synonym: "steroid 18-hydroxylase deficiency" RELATED [OMIM:203400] +synonym: "corticosterone methyloxidase type 1 deficiency" EXACT [GARD:0005660, OMIM:203400] +synonym: "corticosterone methyloxidase type I deficiency" RELATED [] +synonym: "hyperreninemic hypoaldosteronism, familial, 1" RELATED [] +synonym: "hypoaldosteronism, congenital, due to cmo i deficiency" EXACT [] +synonym: "steroid 18-hydroxylase deficiency" RELATED [] xref: DOID:0080626 {source="MONDO:equivalentTo"} xref: GARD:5660 {source="MONDO:GARD"} xref: MEDGEN:82784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -183764,10 +183790,10 @@ subset: ordo_disorder {source="Orphanet:58"} subset: orphanet_rare {source="Orphanet:58"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alexander disease" EXACT [MONDO:Lexical, OMIM:203450] +synonym: "Alexander disease" EXACT [DOID:4252, icd11.foundation:2023359698, MONDO:Lexical, NCIT:C84545, OMIM:203450, Orphanet:58] synonym: "Alexander's disease" EXACT [DOID:4252] synonym: "alexanders leukodystrophy" RELATED [GARD:0005774] -synonym: "ALXDRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203450] +synonym: "ALXDRD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "AxD" EXACT [Orphanet:58] synonym: "megalencephaly in infancy accompanied by progressive spasticity and dementia" RELATED [GARD:0005774] xref: DOID:4252 {source="MONDO:equivalentTo"} @@ -183801,14 +183827,14 @@ subset: ordo_disorder {source="Orphanet:56"} subset: orphanet_rare {source="Orphanet:56"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aku" RELATED [MONDO:Lexical, OMIM:203500] -synonym: "alcaptonuria" EXACT [DOID:9270] -synonym: "alkaptonuria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:203500] +synonym: "aku" RELATED [MONDO:Lexical] +synonym: "alcaptonuria" EXACT [DOID:9270, icd11.foundation:1761652827] +synonym: "alkaptonuria" EXACT CLINGEN_LABEL [DOID:9270, icd11.foundation:1761652827, MONDO:Lexical, NCIT:C84546, OMIM:203500, Orphanet:56] synonym: "alkaptonuric ochronosis" RELATED [GARD:0005775] synonym: "deficiency of homogentisicase" RELATED [DOID:9270] synonym: "hereditary ochronosis" EXACT [Orphanet:56] -synonym: "homogentisate 1,2-dioxygenase deficiency" EXACT [DOID:9270] -synonym: "homogentisic acid oxidase deficiency" EXACT [OMIM:203500, Orphanet:56] +synonym: "homogentisate 1,2-dioxygenase deficiency" EXACT [DOID:9270, icd11.foundation:1761652827] +synonym: "homogentisic acid oxidase deficiency" EXACT [icd11.foundation:1761652827, OMIM:203500, Orphanet:56] synonym: "homogentisic acidura" RELATED [GARD:0005775] synonym: "ochronosis, hereditary" RELATED [GARD:0005775] xref: DOID:9270 {source="MONDO:equivalentTo"} @@ -183856,11 +183882,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1005"} subset: orphanet_rare {source="Orphanet:1005"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACD intellectual disability syndrome" RELATED [OMIM:203550] -synonym: "ACD mental retardation syndrome" RELATED DEPRECATED [OMIM:203550] +synonym: "ACD intellectual disability syndrome" RELATED [] +synonym: "ACD mental retardation syndrome" RELATED DEPRECATED [] synonym: "ACD-intellectual disability syndrome" EXACT [Orphanet:1005] -synonym: "alopecia-contractures-dwarfism intellectual disability syndrome" RELATED [OMIM:203550] -synonym: "alopecia-contractures-dwarfism mental retardation syndrome" RELATED DEPRECATED [OMIM:203550] +synonym: "alopecia-contractures-dwarfism intellectual disability syndrome" RELATED [] +synonym: "alopecia-contractures-dwarfism mental retardation syndrome" RELATED DEPRECATED [] xref: GARD:605 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1005", source="Orphanet:1005/attributed", source="Orphanet:1005/ntbt"} xref: MEDGEN:167081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -183886,8 +183912,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alopecia epilepsy oligophrenia syndrome of Moynahan" RELATED [GARD:0000606] synonym: "alopecia-epilepsy-intellectual disability syndrome, Moynahan type" EXACT [Orphanet:2574] -synonym: "alopecia-epilepsy-oligophrenia syndrome of Moynahan" RELATED [OMIM:203600] -synonym: "Moynahan alopecia syndrome" RELATED [OMIM:203600] +synonym: "alopecia-epilepsy-oligophrenia syndrome of Moynahan" RELATED [] +synonym: "Moynahan alopecia syndrome" RELATED [] xref: GARD:606 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:2574/attributed", source="Orphanet:2574/ntbt", source="Orphanet:2574"} xref: MEDGEN:120535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -183912,9 +183938,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alopecia intellectual disbility syndrome 1" RELATED [GARD:0000612] synonym: "alopecia with severe intellectual deficit" RELATED [GARD:0000612] -synonym: "alopecia-intellectual disability syndrome" EXACT [OMIMPS:203650] -synonym: "alopecia-mental retardation syndrome" EXACT DEPRECATED [OMIMPS:203650] -synonym: "Amr syndrome" RELATED [OMIM:203650] +synonym: "alopecia-intellectual disability syndrome" EXACT [OMIMPS:203650, Orphanet:2850] +synonym: "alopecia-mental retardation syndrome" EXACT DEPRECATED [DOID:0080627] +synonym: "Amr syndrome" RELATED [] synonym: "AMR syndrome 1" RELATED [GARD:0000612] synonym: "Perniola-Krajewska-Carnevale syndrome" EXACT [Orphanet:2850] xref: DOID:0080627 {source="MONDO:equivalentTo"} @@ -183943,9 +183969,9 @@ subset: orphanet_rare {source="Orphanet:701"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alopecia areata universalis" RELATED [GARD:0000614] -synonym: "alopecia universalis" RELATED [OMIM:203655] +synonym: "alopecia universalis" RELATED [] synonym: "alopecia universalis congenita" EXACT [DOID:0050634, MONDO:Lexical, OMIM:203655] -synonym: "ALUNC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203655] +synonym: "ALUNC" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrichia, generalised" EXACT OMO:0003005 [] synonym: "atrichia, generalized" EXACT [OMIM:203655] synonym: "AU" RELATED ABBREVIATION [GARD:0000614] @@ -183979,31 +184005,31 @@ synonym: "AHD" EXACT ABBREVIATION [NCIT:C35257] synonym: "AHS" EXACT ABBREVIATION [NCIT:C35257] synonym: "Alper syndrome" EXACT [NCIT:C35257] synonym: "Alper's disease" EXACT [https://orcid.org/0000-0001-5208-3432] -synonym: "Alper's syndrome" EXACT [DOID:1442, NCIT:C35257] -synonym: "Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis" RELATED [OMIM:203700] +synonym: "Alper's syndrome" EXACT [DOID:0080122, NCIT:C35257] +synonym: "Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis" RELATED [] synonym: "Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis" RELATED OMO:0003005 [] -synonym: "Alpers Disease" EXACT [NORD:752] -synonym: "Alpers disease" EXACT [NCIT:C35257] +synonym: "Alpers Disease" EXACT [DOID:0080122, NCIT:C35257, NORD:752] +synonym: "Alpers disease" EXACT [DOID:0080122, NCIT:C35257] synonym: "Alpers Huttenlocher disease" EXACT [NCIT:C35257] synonym: "Alpers Huttenlocher syndrome" EXACT [NCIT:C35257] -synonym: "Alpers progressive infantile poliodystrophy" EXACT [DOID:1442] +synonym: "Alpers progressive infantile poliodystrophy" EXACT [DOID:0080122, OMIM:203700] synonym: "Alpers progressive sclerosing poliodystrophy" EXACT [Orphanet:726] -synonym: "Alpers syndrome" EXACT [MONDO:0001960, OMIM:203700, Orphanet:726] -synonym: "Alpers' disease or gray-matter degeneration" EXACT [DOID:1442] +synonym: "Alpers syndrome" EXACT [DOID:0080122, MONDO:0001960, NCIT:C35257, OMIM:203700, Orphanet:726] +synonym: "Alpers' disease or gray-matter degeneration" EXACT [DOID:0080122] synonym: "Alpers-Huttenlocher" EXACT [PMID:37498137] -synonym: "Alpers-Huttenlocher syndrome" EXACT [DOID:1442, OMIM:203700] +synonym: "Alpers-Huttenlocher syndrome" EXACT [DOID:0080122, OMIM:203700, Orphanet:726] synonym: "diffuse cerebral degeneration in infancy" RELATED [GARD:0005783] synonym: "infantile poliodystrophy" RELATED [GARD:0005783] -synonym: "mitochondrial DNA depletion syndrome 4A" EXACT [DOID:1442] -synonym: "mitochondrial DNA depletion syndrome 4A (Alpers type)" RELATED [MONDO:Lexical, OMIM:203700] -synonym: "mitochondrial DNA depletion syndrome type 4a" EXACT [DOID:0080122, MONDORULE:4] -synonym: "MTDPS4A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:203700] -synonym: "neuronal Degeneration of childhood with liver disease, progressive" RELATED [OMIM:203700] +synonym: "mitochondrial DNA depletion syndrome 4A" EXACT [DOID:0080122, OMIM:203700] +synonym: "mitochondrial DNA depletion syndrome 4A (Alpers type)" RELATED [MONDO:Lexical] +synonym: "mitochondrial DNA depletion syndrome type 4a" EXACT [MONDORULE:4] +synonym: "MTDPS4A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "neuronal Degeneration of childhood with liver disease, progressive" RELATED [] synonym: "PNDC" RELATED ABBREVIATION [GARD:0005783] synonym: "Poliodystrophia cerebri progressiva" RELATED [GARD:0005783] synonym: "progressive cerebral poliodystrophy" RELATED [GARD:0005783] synonym: "progressive neuronal degeneration of childhood with liver disease" EXACT [Orphanet:726] -synonym: "progressive sclerosing poliodystrophy" EXACT [DOID:1442] +synonym: "progressive sclerosing poliodystrophy" EXACT [DOID:0080122] xref: DOID:0080122 {source="MONDO:equivalentTo"} xref: DOID:1442 {source="MONDO:equivalentObsolete"} xref: GARD:5783 {source="MONDO:GARD"} @@ -184041,13 +184067,13 @@ subset: orphanet_rare {source="Orphanet:31"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "2 alpha ketoglutarate dehydrogenase deficiency" RELATED [GARD:0000617] -synonym: "2-ketoglutarate dehydrogenase deficiency" RELATED [OMIM:203740] +synonym: "2-ketoglutarate dehydrogenase deficiency" RELATED [] synonym: "Alpha KGD deficiency" RELATED [GARD:0000617] -synonym: "ALPHA-ketoglutarate dehydrogenase deficiency" RELATED [OMIM:203740] -synonym: "Alpha-ketoglutarate dehydrogenase deficiency" EXACT [Orphanet:31] -synonym: "Alpha-Kgd deficiency" RELATED [OMIM:203740] -synonym: "oxoglutarate dehydrogenase deficiency" EXACT [OMIM:203740, OMIM:genemap2] -synonym: "Oxoglutaric aciduria" RELATED [OMIM:203740] +synonym: "ALPHA-ketoglutarate dehydrogenase deficiency" RELATED [] +synonym: "Alpha-ketoglutarate dehydrogenase deficiency" EXACT [DOID:0081326, OMIM:203740, Orphanet:31] +synonym: "Alpha-Kgd deficiency" RELATED [] +synonym: "oxoglutarate dehydrogenase deficiency" EXACT [DOID:0081326, OMIM:203740] +synonym: "Oxoglutaric aciduria" RELATED [] xref: DOID:0081326 {source="MONDO:equivalentTo"} xref: GARD:617 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:31", source="Orphanet:31/attributed", source="Orphanet:31/ntbt"} @@ -184075,21 +184101,21 @@ subset: ordo_disorder {source="Orphanet:134"} subset: orphanet_rare {source="Orphanet:134"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "2-Methyl-3-hydroxybutyric acidemia" RELATED [OMIM:203750] +synonym: "2-Methyl-3-hydroxybutyric acidemia" RELATED [] synonym: "2-methyl-3-hydroxybutyricacidemia" EXACT [DOID:14723] -synonym: "3-ketothiolase deficiency" EXACT [DOID:14723, Orphanet:134] -synonym: "3-Ktd deficiency" RELATED [OMIM:203750] +synonym: "3-ketothiolase deficiency" EXACT [DOID:14723, NCIT:C98841, OMIM:203750, Orphanet:134] +synonym: "3-Ktd deficiency" RELATED [] synonym: "3-oxothiolase deficiency" EXACT [DOID:14723, OMIM:203750, Orphanet:134] synonym: "Alpha methylacetoacetic aciduria" EXACT [Orphanet:134] synonym: "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" EXACT [Orphanet:134] -synonym: "ALPHA-methylacetoacetic aciduria" RELATED [OMIM:203750] +synonym: "ALPHA-methylacetoacetic aciduria" RELATED [] synonym: "alpha-methylacetoaceticaciduria" EXACT [DOID:14723] synonym: "Beta ketothiolase deficiency" RELATED [GARD:0000872] -synonym: "beta-ketothiolase deficiency" EXACT CLINGEN_LABEL [OMIM:203750] +synonym: "beta-ketothiolase deficiency" EXACT CLINGEN_LABEL [DOID:14723, NCIT:C98841, OMIM:203750, Orphanet:134] synonym: "BKT" EXACT ABBREVIATION [NCIT:C98841] -synonym: "Mat deficiency" RELATED [OMIM:203750] -synonym: "mitochondrial acetoacetyl-CoA thiolase deficiency" EXACT [DOID:14723] -synonym: "mitochondrial acetoacetyl-Coa thiolase deficiency" RELATED [OMIM:203750] +synonym: "Mat deficiency" RELATED [] +synonym: "mitochondrial acetoacetyl-CoA thiolase deficiency" EXACT [DOID:14723, OMIM:203750] +synonym: "mitochondrial acetoacetyl-Coa thiolase deficiency" RELATED [] synonym: "mitochondrial acetoacetyl-coenzyme A thiolase deficiency" EXACT [Orphanet:134] synonym: "peroxisomal thiolase deficiency" EXACT [DOID:14723] synonym: "T2 deficiency" EXACT [OMIM:203750, Orphanet:134] @@ -184118,8 +184144,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008761 name: obsolete alpha-2-deficient collagen disease comment: This term was retired in GARD because was based in a single report in 1979 about a boy who could have another diagnosis. -synonym: "alpha-2-deficient collagen disease" EXACT [MONDO:0022423, OMIM:203760] -synonym: "Meigel disease" EXACT [OMIM:203760] +synonym: "alpha-2-deficient collagen disease" EXACT [MONDO:0022423] +synonym: "Meigel disease" EXACT [] xref: MESH:C565963 {source="MONDO:obsoleteEquivalent"} xref: OMIM:203760 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1594" xsd:anyURI @@ -184135,10 +184161,10 @@ subset: ordo_etiological_subtype {source="Orphanet:88919"} subset: ordo_subtype_of_a_disorder {source="Orphanet:88919"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alport syndrome 2, autosomal recessive" EXACT [OMIM:203780, OMIM:genemap2] +synonym: "Alport syndrome 2, autosomal recessive" EXACT [OMIM:203780] synonym: "Alport syndrome autosomal recessive" RELATED [GARD:0000625] synonym: "Alport syndrome recessive type" RELATED [GARD:0000625] -synonym: "Alport syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:203780] +synonym: "Alport syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "nephropathy and deafness" RELATED [GARD:0000625] xref: DOID:0110033 {source="MONDO:equivalentTo"} xref: GARD:625 {source="MONDO:GARD"} @@ -184173,10 +184199,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ALMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:203800] synonym: "ALSS" EXACT ABBREVIATION [OMIM:203800] -synonym: "Alstrom syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:203800] +synonym: "Alstrom syndrome" EXACT CLINGEN_LABEL [DOID:0050473, MONDO:Lexical, NCIT:C84549, OMIM:203800] synonym: "Alstrom's syndrome" EXACT [GARD:0005787] -synonym: "Alström Syndrome" EXACT [NORD:757] -synonym: "Alström syndrome" EXACT [NCIT:C84549] +synonym: "Alström Syndrome" EXACT [NCIT:C84549, NORD:757, Orphanet:64] +synonym: "Alström syndrome" EXACT [NCIT:C84549, Orphanet:64] xref: DOID:0050473 {source="MONDO:equivalentTo"} xref: GARD:5787 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:64", source="Orphanet:64/attributed", source="Orphanet:64/ntbt"} @@ -184215,17 +184241,17 @@ def: "Any Leber congenital amaurosis in which the cause of the disease is a muta subset: gard_rare {source="GARD:635", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "amaurosis congenita of Leber 1" RELATED [OMIM:204000] +synonym: "amaurosis congenita of Leber 1" RELATED [] synonym: "amaurosis congenita of Leber I" EXACT [DOID:0110078] synonym: "amaurosis congenita of Leber, type 1" RELATED [GARD:0000635] synonym: "CRB" RELATED ABBREVIATION [GARD:0000635] synonym: "GUCY2D Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LCA" RELATED ABBREVIATION [OMIM:204000] +synonym: "LCA" RELATED ABBREVIATION [] synonym: "LCA1" EXACT ABBREVIATION [DOID:0110078, MONDO:Lexical, OMIM:204000] -synonym: "Leber congenital amaurosis 1" EXACT [MONDO:Lexical, OMIM:204000] +synonym: "Leber congenital amaurosis 1" EXACT [DOID:0110078, MONDO:Lexical, OMIM:204000] synonym: "Leber congenital amaurosis caused by mutation in GUCY2D" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 1" EXACT [DOID:0110078, MONDORULE:1, OMIM:204000] -synonym: "retinal blindness, congenital" RELATED [OMIM:204000] +synonym: "Leber congenital amaurosis type 1" EXACT [MONDORULE:1] +synonym: "retinal blindness, congenital" RELATED [] xref: DOID:0110078 {source="MONDO:equivalentTo"} xref: GARD:635 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110078"} @@ -184247,13 +184273,13 @@ def: "Any Leber congenital amaurosis in which the cause of the disease is a muta subset: gard_rare {source="GARD:636", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "amaurosis congenita of Leber 2" RELATED [OMIM:204100] +synonym: "amaurosis congenita of Leber 2" RELATED [] synonym: "amaurosis congenita of Leber II" EXACT [DOID:0110016] synonym: "amaurosis congenita of Leber, type 2" RELATED [GARD:0000636] synonym: "LCA2" EXACT ABBREVIATION [DOID:0110016, MONDO:Lexical, OMIM:204100] -synonym: "Leber congenital amaurosis 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:204100] +synonym: "Leber congenital amaurosis 2" EXACT CLINGEN_LABEL [DOID:0110016, MONDO:Lexical, OMIM:204100] synonym: "Leber congenital amaurosis caused by mutation in RPE65" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 2" EXACT [DOID:0110016, MONDORULE:1, OMIM:204100] +synonym: "Leber congenital amaurosis type 2" EXACT [MONDORULE:1] synonym: "RPE65 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110016 {source="MONDO:equivalentTo"} xref: GARD:636 {source="MONDO:GARD"} @@ -184281,7 +184307,7 @@ subset: orphanet_rare {source="Orphanet:1021"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "amaurosis congenita cone-rod type with congenital hypertrichosis" RELATED [GARD:0000637] -synonym: "amaurosis congenita, cone-rod type, with congenital hypertrichosis" RELATED [OMIM:204110] +synonym: "amaurosis congenita, cone-rod type, with congenital hypertrichosis" RELATED [] xref: GARD:637 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:1021", source="Orphanet:1021/attributed", source="Orphanet:1021/ntbt", source="MONDO:directSiblingOf"} xref: MEDGEN:341805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -184304,23 +184330,23 @@ subset: ordo_etiological_subtype {source="Orphanet:228346"} subset: orphanet_rare {source="Orphanet:228346"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "batten disease" RELATED [OMIM:204200] -synonym: "ceroid lipofuscinosis, neuronal, 3" RELATED [MONDO:Lexical, OMIM:204200] -synonym: "ceroid lipofuscinosis, neuronal, type 3" EXACT [MONDORULE:1, OMIM:204200] -synonym: "CLN3" EXACT ABBREVIATION [DOID:0110731, MONDO:Lexical, OMIM:204200] -synonym: "CLN3 disease" RELATED [Orphanet:228346] +synonym: "batten disease" RELATED [] +synonym: "ceroid lipofuscinosis, neuronal, 3" RELATED [MONDO:Lexical] +synonym: "ceroid lipofuscinosis, neuronal, type 3" EXACT [MONDORULE:1] +synonym: "CLN3" EXACT ABBREVIATION [DOID:0110731, MONDO:Lexical, NCIT:C61258, OMIM:204200] +synonym: "CLN3 disease" RELATED [] synonym: "CLN3 disease, juvenile" RELATED [GARD:0005897] synonym: "CLN3 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Juvenile CLN3 Disease" EXACT [NORD:843] -synonym: "juvenile neuronal ceroid lipofuscinosis" RELATED EXCLUDE [DOID:0110731] -synonym: "neuronal ceroid lipofuscinosis 3" EXACT CLINGEN_LABEL [] +synonym: "juvenile neuronal ceroid lipofuscinosis" RELATED EXCLUDE [] +synonym: "neuronal ceroid lipofuscinosis 3" EXACT CLINGEN_LABEL [DOID:0110731] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN3" EXACT [MONDO:design_pattern] -synonym: "neuronal ceroid lipofuscinosis type 3" EXACT [DOID:0110731, MONDORULE:1] -synonym: "neuronal ceroid lipofuscinosis, juvenile" RELATED [OMIM:204200] +synonym: "neuronal ceroid lipofuscinosis type 3" EXACT [MONDORULE:1, NCIT:C61258, Orphanet:228346] +synonym: "neuronal ceroid lipofuscinosis, juvenile" RELATED [] synonym: "Spielmeyer Sjogren disease" RELATED [GARD:0005897] -synonym: "Spielmeyer-Sjogren disease" RELATED [OMIM:204200] +synonym: "Spielmeyer-Sjogren disease" RELATED [] synonym: "Vogt Spielmeyer disease" RELATED [GARD:0005897] -synonym: "Vogt-Spielmeyer disease" RELATED [OMIM:204200] +synonym: "Vogt-Spielmeyer disease" RELATED [] xref: DOID:0110731 {source="MONDO:equivalentTo"} xref: GARD:5897 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="DOID:0110731", source="Orphanet:228346/attributed", source="Orphanet:228346/ntbt", source="Orphanet:228346"} @@ -184348,15 +184374,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adult neuronal ceroid lipofuscinosis 4A" RELATED [GARD:0006845] synonym: "autosomal recessive neuronal ceroid lipofuscinosis 4A" EXACT [DOID:0110730] -synonym: "ceroid lipofuscinosis, neuronal, 4A, autosomal recessive" RELATED [MONDO:Lexical, OMIM:204300] -synonym: "CLN4A" EXACT ABBREVIATION [DOID:0110730, MONDO:Lexical, OMIM:204300] -synonym: "CLN4A disease" RELATED [Orphanet:228340] +synonym: "ceroid lipofuscinosis, neuronal, 4A, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "CLN4A" EXACT ABBREVIATION [DOID:0110730, MONDO:Lexical] +synonym: "CLN4A disease" RELATED [] synonym: "CLN6 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Kuf's disease type A" RELATED [GARD:0006845] synonym: "Kuf's disease, autosomal recessive" RELATED [GARD:0006845] synonym: "neuronal ceroid lipofuscinosis 4A" EXACT [DOID:0110730] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MONDO:design_pattern] -synonym: "neuronal ceroid lipofuscinosis type 4A" EXACT [DOID:0110730, MONDORULE:4] +synonym: "neuronal ceroid lipofuscinosis type 4A" EXACT [MONDORULE:4] xref: DOID:0110730 {source="MONDO:equivalentTo"} xref: GARD:6845 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="Orphanet:228340", source="Orphanet:228340/attributed", source="Orphanet:228340/ntbt", source="DOID:0110730"} @@ -184382,19 +184408,19 @@ subset: ordo_etiological_subtype {source="Orphanet:228349"} subset: orphanet_rare {source="Orphanet:228349"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ceroid lipofuscinosis, neuronal, 2" RELATED [MONDO:Lexical, OMIM:204500] -synonym: "ceroid lipofuscinosis, neuronal, 2, variable Age at onset" RELATED [OMIM:204500] -synonym: "ceroid lipofuscinosis, neuronal, type 2" EXACT [MONDORULE:1, OMIM:204500] -synonym: "CLN2" EXACT ABBREVIATION [DOID:0110726, MONDO:Lexical, OMIM:204500] -synonym: "CLN2 disease" RELATED [Orphanet:228349] +synonym: "ceroid lipofuscinosis, neuronal, 2" RELATED [MONDO:Lexical] +synonym: "ceroid lipofuscinosis, neuronal, 2, variable Age at onset" RELATED [] +synonym: "ceroid lipofuscinosis, neuronal, type 2" EXACT [MONDORULE:1] +synonym: "CLN2" EXACT ABBREVIATION [DOID:0110726, MONDO:Lexical, NCIT:C85864, OMIM:204500] +synonym: "CLN2 disease" RELATED [] synonym: "CLN2 disease, juvenile (subtype)" RELATED [GARD:0003045] synonym: "CLN2 disease, late infantile (subtype)" RELATED [GARD:0003045] -synonym: "Jansky-Bielschowsky disease" RELATED [OMIM:204500] -synonym: "late infantile neuronal ceroid lipofuscinosis" BROAD [NCIT:C85864] +synonym: "Jansky-Bielschowsky disease" RELATED [] +synonym: "late infantile neuronal ceroid lipofuscinosis" BROAD [] synonym: "neuronal ceroid lipofuscinosis 2 variable age at onset" EXACT [DOID:0110726] synonym: "neuronal ceroid lipofuscinosis caused by mutation in TPP1" EXACT [MONDO:design_pattern] -synonym: "neuronal ceroid lipofuscinosis type 2" EXACT [DOID:0110726, MONDORULE:1] -synonym: "neuronal ceroid lipofuscinosis, late infantile" RELATED [OMIM:204500] +synonym: "neuronal ceroid lipofuscinosis type 2" EXACT [MONDORULE:1, NCIT:C85864] +synonym: "neuronal ceroid lipofuscinosis, late infantile" RELATED [] synonym: "TPP1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110726 {source="MONDO:equivalentTo"} xref: GARD:3045 {source="MONDO:GARD"} @@ -184422,10 +184448,10 @@ subset: gard_rare {source="GARD:15136", source="MONDO:GARD"} subset: rare synonym: "AI1C" EXACT ABBREVIATION [DOID:0110056, MONDO:Lexical, OMIM:204650] synonym: "amelogenesis imperfecta type IC" EXACT [DOID:0110056] -synonym: "amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive" RELATED [OMIM:204650] -synonym: "amelogenesis imperfecta, local hypoplastic type, autosomal recessive" RELATED [OMIM:204650] -synonym: "amelogenesis imperfecta, type 1C" EXACT [MONDO:0000907] -synonym: "amelogenesis imperfecta, type IC" RELATED [MONDO:Lexical, OMIM:204650] +synonym: "amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive" RELATED [] +synonym: "amelogenesis imperfecta, local hypoplastic type, autosomal recessive" RELATED [] +synonym: "amelogenesis imperfecta, type 1C" EXACT [MONDO:0000907, OMIM:204650] +synonym: "amelogenesis imperfecta, type IC" RELATED [MONDO:Lexical] synonym: "autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion" EXACT [DOID:0110056] synonym: "autosomal recessive amelogenesis imperfecta local hypoplastic type" EXACT [DOID:0110056] xref: DOID:0110056 {source="MONDO:equivalentTo"} @@ -184454,22 +184480,23 @@ subset: rare synonym: "absent enamel, nephrocalcinosis and apparently normal calcium metabolism" RELATED [GARD:0000646] synonym: "AI1G" EXACT ABBREVIATION [DOID:0110066, MONDO:Lexical, OMIM:204690] synonym: "AIGFS" EXACT ABBREVIATION [DOID:0110066] -synonym: "amelogenesis imperfecta and gingival fibromatosis syndrome" EXACT [DOID:0110066] +synonym: "amelogenesis imperfecta and gingival fibromatosis syndrome" EXACT [DOID:0110066, OMIM:204690] synonym: "amelogenesis imperfecta and nephrocalcinosis" RELATED [GARD:0009860] synonym: "amelogenesis imperfecta caused by mutation in FAM20A" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypoplastic type, IG" RELATED [GARD:0009860] synonym: "amelogenesis imperfecta hypoplastic with nephrocalcinosis" EXACT [DOID:0110066] synonym: "amelogenesis imperfecta nephrocalcinosis" RELATED [GARD:0000646] synonym: "amelogenesis imperfecta type IG" EXACT [DOID:0110066] -synonym: "amelogenesis imperfecta, hypoplastic, with nephrocalcinosis" RELATED [OMIM:204690] -synonym: "amelogenesis imperfecta, type IG" RELATED [MONDO:Lexical, OMIM:204690] -synonym: "amelogenesis imperfecta, type IG (enamel-renal syndrome)" EXACT [OMIM:204690, OMIM:genemap2] +synonym: "amelogenesis imperfecta, hypoplastic, with nephrocalcinosis" RELATED [] +synonym: "amelogenesis imperfecta, type IG" RELATED [MONDO:Lexical] +synonym: "amelogenesis imperfecta, type IG (enamel-renal syndrome)" EXACT [] synonym: "amelogenesis imperfecta-gingival hyperplasia syndrome" EXACT [MONDO:0015750] -synonym: "amelogenesis imperfecta-nephrocalcinosis syndrome" RELATED [Orphanet:1031] +synonym: "amelogenesis imperfecta-nephrocalcinosis syndrome" RELATED [] synonym: "enamel renal syndrome" RELATED [GARD:0000646] -synonym: "enamel-renal syndrome" EXACT [DOID:0110066, OMIM:204690] +synonym: "enamel-renal syndrome" EXACT [DOID:0110066, OMIM:204690, Orphanet:1031] synonym: "enamel-renal-gingival syndrome" EXACT [DOID:0110066, OMIM:204690] -synonym: "ers" EXACT [DOID:0110066] +synonym: "ERS" EXACT ABBREVIATION [DOID:0110066] +synonym: "ers" EXACT [] synonym: "FAM20A amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "generalised enamel hypoplasia and renal dysfunction" RELATED OMO:0003005 [] synonym: "generalized enamel hypoplasia and renal dysfunction" RELATED [GARD:0000646] @@ -184506,9 +184533,9 @@ synonym: "amelogenesis imperfecta caused by mutation in KLK4" EXACT [MONDO:desig synonym: "amelogenesis imperfecta pigmented hypomaturation type" RELATED [GARD:0009495] synonym: "amelogenesis imperfecta pigmented hypomaturation type 1" EXACT [DOID:0110057] synonym: "amelogenesis imperfecta type IIA1" EXACT [DOID:0110057] -synonym: "amelogenesis imperfecta, hypomaturation type, IIA1" RELATED [MESH:C538242, MONDO:Lexical, OMIM:204700] -synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 1" RELATED [MESH:C538242, OMIM:204700] -synonym: "amelogenesis imperfecta, type IIA1" EXACT [OMIM:204700, OMIM:genemap2] +synonym: "amelogenesis imperfecta, hypomaturation type, IIA1" RELATED [MESH:C538242, MONDO:Lexical] +synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 1" RELATED [MESH:C538242] +synonym: "amelogenesis imperfecta, type IIA1" EXACT [] synonym: "KLK4 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110057 {source="MONDO:equivalentTo"} xref: GARD:9495 {source="MONDO:GARD"} @@ -184550,11 +184577,11 @@ subset: ordo_disorder {source="Orphanet:79154"} subset: orphanet_rare {source="Orphanet:79154"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "2-aminoadipic 2-oxoadipic aciduria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:204750] -synonym: "alpha-aminoadipic aciduria" EXACT [Orphanet:79154] -synonym: "alpha-aminoadipic and alpha-ketoadipic aciduria" EXACT [OMIM:204750, OMIM:genemap2] -synonym: "AMOXAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:204750] -synonym: "Ketoadipicaciduria" EXACT [OMIM:245130] +synonym: "2-aminoadipic 2-oxoadipic aciduria" EXACT CLINGEN_LABEL [DOID:0111453, MONDO:Lexical, OMIM:204750, Orphanet:79154] +synonym: "alpha-aminoadipic aciduria" EXACT [DOID:0111453, Orphanet:79154] +synonym: "alpha-aminoadipic and alpha-ketoadipic aciduria" EXACT [OMIM:204750] +synonym: "AMOXAD" EXACT ABBREVIATION [DOID:0111453, MONDO:Lexical] +synonym: "Ketoadipicaciduria" EXACT [] xref: DOID:0111453 {source="MONDO:equivalentTo"} xref: GARD:16708 {source="MONDO:GARD"} xref: ICD10CM:E72.3 {source="Orphanet:79154/attributed", source="Orphanet:79154/ntbt", source="Orphanet:79154"} @@ -184586,8 +184613,8 @@ id: MONDO:0008776 name: amyloidosis of gingiva and conjunctiva, with intellectual disability synonym: "amyloidosis of gingiva and conjunctiva with intellectual disability" RELATED [GARD:0000657] synonym: "amyloidosis of gingiva and conjunctiva with mental retardation" RELATED DEPRECATED [GARD:0000657] -synonym: "amyloidosis of gingiva and conjunctiva, with intellectual disability" EXACT [OMIM:204850] -synonym: "amyloidosis of gingiva and conjunctiva, with mental retardation" EXACT DEPRECATED [OMIM:204850] +synonym: "amyloidosis of gingiva and conjunctiva, with intellectual disability" EXACT [] +synonym: "amyloidosis of gingiva and conjunctiva, with mental retardation" EXACT DEPRECATED [] synonym: "Hornova Dlushosova syndrome" RELATED [GARD:0000657] xref: MEDGEN:347240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565958 {source="MONDO:equivalentTo"} @@ -184606,19 +184633,19 @@ subset: ordo_disorder {source="Orphanet:98957"} subset: orphanet_rare {source="Orphanet:98957"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amyloid corneal dystrophy, Japanese type" RELATED [GARD:0009647, OMIM:204870] +synonym: "amyloid corneal dystrophy, Japanese type" RELATED [GARD:0009647] synonym: "amyloidosis corneal" RELATED [GARD:0009647] -synonym: "amyloidosis, corneal" RELATED [OMIM:204870] +synonym: "amyloidosis, corneal" RELATED [] synonym: "CDGDL" RELATED ABBREVIATION [GARD:0009647] -synonym: "Cdgdl" RELATED [OMIM:204870] +synonym: "Cdgdl" RELATED [] synonym: "corneal amyloidosis" EXACT [DOID:0060449, GARD:0009647] -synonym: "corneal dystrophy, gelatinous drop-like" RELATED [GARD:0009647, MONDO:Lexical, OMIM:204870] -synonym: "corneal dystrophy, lattice type 3" RELATED [GARD:0009647, OMIM:204870] +synonym: "corneal dystrophy, gelatinous drop-like" RELATED [GARD:0009647, MONDO:Lexical] +synonym: "corneal dystrophy, lattice type 3" RELATED [GARD:0009647] synonym: "GDCD" EXACT ABBREVIATION [DOID:0060449, Orphanet:98957] -synonym: "GDLD" RELATED ABBREVIATION [GARD:0009647, MONDO:Lexical, OMIM:204870] -synonym: "gelatinous drop-like corneal dystrophy" EXACT CLINGEN_LABEL [GARD:0009647] +synonym: "GDLD" RELATED ABBREVIATION [GARD:0009647, MONDO:Lexical] +synonym: "gelatinous drop-like corneal dystrophy" EXACT CLINGEN_LABEL [DOID:0060449, GARD:0009647, icd11.foundation:1062815669, NCIT:C142805, Orphanet:98957] synonym: "lattice corneal dystrophy type 3" RELATED [GARD:0009647] -synonym: "lattice corneal dystrophy, type 3" RELATED [OMIM:204870] +synonym: "lattice corneal dystrophy, type 3" RELATED [] synonym: "primary familial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet:98957] synonym: "subepithelial amyloidosis of the cornea" EXACT [DOID:0060449, Orphanet:98957] xref: DOID:0060449 {source="MONDO:equivalentTo"} @@ -184676,10 +184703,10 @@ subset: gard_rare {source="GARD:15137", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALS, juvenile" RELATED [OMIM:205100] +synonym: "ALS, juvenile" RELATED [] synonym: "ALS2" EXACT ABBREVIATION [DOID:0060194, MONDO:Lexical, OMIM:205100] synonym: "ALS2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "amyotrophic lateral sclerosis 2" EXACT [DOID:0060194, OMIM:205100] +synonym: "amyotrophic lateral sclerosis 2" EXACT [DOID:0060194] synonym: "amyotrophic lateral sclerosis 2, juvenile" EXACT [DOID:0060194, MONDO:Lexical, OMIM:205100] synonym: "amyotrophic lateral sclerosis caused by mutation in ALS2" EXACT [MONDO:design_pattern] xref: DOID:0060194 {source="MONDO:equivalentTo"} @@ -184705,9 +184732,9 @@ def: "A juvenile amyotrophic lateral sclerosis that is slowly progressive with c subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ALS-dementia Complex" RELATED [OMIM:205200] -synonym: "ALS-dementia complex" EXACT [DOID:0110067] -synonym: "amyotrophic lateral sclerosis, juvenile, with dementia" RELATED [OMIM:205200] +synonym: "ALS-dementia Complex" RELATED [] +synonym: "ALS-dementia complex" EXACT [DOID:0110067, OMIM:205200] +synonym: "amyotrophic lateral sclerosis, juvenile, with dementia" RELATED [] xref: DOID:0110067 {source="MONDO:equivalentTo"} xref: MEDGEN:395347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565956 {source="MONDO:equivalentTo"} @@ -184748,18 +184775,18 @@ synonym: "Analphalipo-proteinemia" RELATED [GARD:0007731] synonym: "Analphalipoproteinemia" EXACT [OMIM:205400, Orphanet:31150] synonym: "ATP-binding cassette transporter A1 deficiency" EXACT [Orphanet:31150] synonym: "cholesterol thesaurismosis" RELATED [GARD:0007731] -synonym: "defective adenosine triphosphate-binding cassette transporter A1" EXACT [Orphanet:31150] +synonym: "defective adenosine triphosphate-binding cassette transporter A1" EXACT [] synonym: "familial alpha-lipoprotein deficiency" EXACT [DOID:1388] synonym: "familial high density lipoprotein deficiency" EXACT [DOID:1388] synonym: "familial high density lipoprotein deficiency disease" RELATED [GARD:0007731] synonym: "familial Hypoalphalipo-proteinemia" RELATED [GARD:0007731] -synonym: "familial hypoalphalipoproteinemia" RELATED EXCLUDE [DOID:1388] +synonym: "familial hypoalphalipoproteinemia" RELATED EXCLUDE [] synonym: "HDL lipoprotein deficiency disease" RELATED [GARD:0007731] synonym: "HDLDT1" RELATED ABBREVIATION [GARD:0007731] -synonym: "high density lipoprotein deficiency, Tangier type" RELATED [OMIM:205400] -synonym: "high density lipoprotein deficiency, type 1" RELATED [OMIM:205400] -synonym: "Tangier disease" EXACT [MONDO:Lexical, OMIM:205400] -synonym: "tgd" RELATED [MONDO:Lexical, OMIM:205400] +synonym: "high density lipoprotein deficiency, Tangier type" RELATED [] +synonym: "high density lipoprotein deficiency, type 1" RELATED [] +synonym: "Tangier disease" EXACT [DOID:1388, MONDO:Lexical, NCIT:C85182, OMIM:205400, Orphanet:31150] +synonym: "tgd" RELATED [MONDO:Lexical] xref: DOID:1388 {source="MONDO:equivalentTo"} xref: GARD:7731 {source="MONDO:GARD"} xref: ICD10CM:E78.6 {source="DOID:1388", source="Orphanet:31150/attributed", source="Orphanet:31150/ntbt", source="Orphanet:31150"} @@ -184792,11 +184819,11 @@ name: sideroblastic anemia 2 subset: gard_rare {source="GARD:18381", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anemia, sideroblastic, 2, pyridoxine-refractory" RELATED [OMIM:205950] -synonym: "anemia, sideroblastic, pyridoxine-refractory, autosomal recessive" RELATED [OMIM:205950] +synonym: "anemia, sideroblastic, 2, pyridoxine-refractory" RELATED [] +synonym: "anemia, sideroblastic, pyridoxine-refractory, autosomal recessive" RELATED [] synonym: "pyridoxine refractory sideroblastic anaemia" RELATED OMO:0003005 [] synonym: "pyridoxine refractory sideroblastic anemia" RELATED [GARD:0008249] -synonym: "SIDBA2" RELATED ABBREVIATION [OMIM:205950] +synonym: "SIDBA2" RELATED ABBREVIATION [] synonym: "sideroblastic anaemia pyridoxine-refractory autosomal recessive" RELATED OMO:0003005 [] synonym: "sideroblastic anemia pyridoxine-refractory autosomal recessive" RELATED [GARD:0008249] xref: DOID:0060065 {source="MONDO:equivalentTo"} @@ -184819,8 +184846,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "anaemia congenital sideroblastic B6-responsive" RELATED OMO:0003005 [] synonym: "anemia congenital sideroblastic B6-responsive" RELATED [GARD:0009872] -synonym: "anemia, congenital sideroblastic, B6-responsive" RELATED [OMIM:206000] -synonym: "anemia, sideroblastic, pyridoxine-responsive, autosomal recessive" RELATED [OMIM:206000] +synonym: "anemia, congenital sideroblastic, B6-responsive" RELATED [] +synonym: "anemia, sideroblastic, pyridoxine-responsive, autosomal recessive" RELATED [] synonym: "B6-responsive sideroblastic anaemia" RELATED OMO:0003005 [] synonym: "B6-responsive sideroblastic anemia" RELATED [GARD:0009872] synonym: "sideroblastic anaemia pyridoxine-responsive autosomal recessive" RELATED OMO:0003005 [] @@ -184844,9 +184871,9 @@ subset: ordo_disorder {source="Orphanet:83642"} subset: orphanet_rare {source="Orphanet:83642"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AHMIO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206100] -synonym: "anemia, hypochromic microcytic, with iron overload 1" RELATED [MONDO:Lexical, OMIM:206100] -synonym: "anemia, hypochromic microcytic, with iron overload type 1" EXACT [MONDORULE:1, OMIM:206100] +synonym: "AHMIO1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "anemia, hypochromic microcytic, with iron overload 1" RELATED [MONDO:Lexical] +synonym: "anemia, hypochromic microcytic, with iron overload type 1" EXACT [MONDORULE:1] synonym: "hypochromic microcytic anaemia with iron overload" RELATED OMO:0003005 [] synonym: "hypochromic microcytic anemia with iron overload" RELATED [GARD:0012360] synonym: "microcytic anaemia and hepatic iron overload" RELATED OMO:0003005 [] @@ -184874,14 +184901,14 @@ subset: ordo_disorder {source="Orphanet:209981"} subset: orphanet_rare {source="Orphanet:209981"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anemia, hypochromic microcytic, with defect in iron metabolism" RELATED [GARD:0010957, OMIM:206200] -synonym: "IRIDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206200] -synonym: "IRIDA syndrome" EXACT CLINGEN_LABEL [] -synonym: "iron-handling disorder, hereditary" RELATED [OMIM:206200] +synonym: "anemia, hypochromic microcytic, with defect in iron metabolism" RELATED [GARD:0010957] +synonym: "IRIDA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "IRIDA syndrome" EXACT CLINGEN_LABEL [Orphanet:209981] +synonym: "iron-handling disorder, hereditary" RELATED [] synonym: "iron-refractory iron deficiency anaemia" EXACT OMO:0003005 [] synonym: "iron-refractory iron deficiency anemia" EXACT [MONDO:Lexical, OMIM:206200, Orphanet:209981] synonym: "pseudo-iron-deficiency Anaemia" RELATED OMO:0003005 [] -synonym: "pseudo-iron-deficiency Anemia" RELATED [OMIM:206200] +synonym: "pseudo-iron-deficiency Anemia" RELATED [] xref: GARD:10957 {source="MONDO:GARD"} xref: ICD10CM:D50.8 {source="Orphanet:209981", source="Orphanet:209981/attributed", source="Orphanet:209981/ntbt"} xref: MEDGEN:39081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -184912,7 +184939,7 @@ id: MONDO:0008790 name: anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism" EXACT [OMIM:206400] +synonym: "anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism" EXACT [] xref: MEDGEN:395345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565952 {source="MONDO:equivalentTo"} xref: OMIM:206400 {source="MONDO:equivalentTo"} @@ -184931,9 +184958,9 @@ subset: orphanet_rare {source="Orphanet:1048"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "absence of a large part of the brain and the skull" RELATED [GARD:0005808] -synonym: "anencephaly" BROAD [OMIM:206500] -synonym: "anencephaly 1" EXACT [OMIM:206500, OMIM:genemap2] -synonym: "ANPH" BROAD ABBREVIATION [OMIM:206500] +synonym: "anencephaly" BROAD [] +synonym: "anencephaly 1" EXACT [OMIM:206500] +synonym: "ANPH" BROAD ABBREVIATION [] synonym: "isolated anencephaly/exencephaly" EXACT [Orphanet:1048] xref: GARD:5808 {source="MONDO:GARD"} xref: ICD10CM:Q00.0 {source="Orphanet:1048", source="Orphanet:1048/e", source="Orphanet:1048/specific"} @@ -184962,8 +184989,8 @@ subset: ordo_disorder {source="Orphanet:199279"} subset: orphanet_rare {source="Orphanet:199279"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "angiolipoma Microthromboticum" RELATED [OMIM:206550] -synonym: "angiolipomatosis, familial" RELATED [OMIM:206550] +synonym: "angiolipoma Microthromboticum" RELATED [] +synonym: "angiolipomatosis, familial" RELATED [] xref: GARD:17089 {source="MONDO:GARD"} xref: ICD10CM:D17.9 {source="Orphanet:199279/attributed", source="Orphanet:199279/ntbt", source="Orphanet:199279"} xref: MEDGEN:347235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -184978,7 +185005,7 @@ id: MONDO:0008793 name: angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert synonym: "angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert" EXACT [OMIM:206570] synonym: "Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin" RELATED [GARD:0008587] -synonym: "Divry-Van Bogaert syndrome" RELATED [OMIM:206570] +synonym: "Divry-Van Bogaert syndrome" RELATED [] xref: MEDGEN:347234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536367 {source="MONDO:equivalentTo"} xref: OMIM:206570 {source="MONDO:equivalentTo"} @@ -185009,12 +185036,12 @@ subset: orphanet_rare {source="Orphanet:1065"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Aniridia Cerebellar Ataxia Mental Deficiency" EXACT [NORD:786] -synonym: "aniridia, cerebellar ataxia and mental deficiency" EXACT [GARD:0000013] -synonym: "aniridia, cerebellar ataxia, and intellectual disability" EXACT [OMIM:206700] +synonym: "aniridia, cerebellar ataxia and mental deficiency" EXACT [DOID:0111578, GARD:0000013] +synonym: "aniridia, cerebellar ataxia, and intellectual disability" EXACT [] synonym: "aniridia, cerebellar ataxia, and mental retardation" EXACT DEPRECATED [OMIM:206700] -synonym: "GILLESPIE syndrome" EXACT [OMIM:206700] -synonym: "Gillespie syndrome" EXACT [OMIM:206700, Orphanet:1065] -synonym: "GLSP" EXACT ABBREVIATION [OMIM:206700] +synonym: "GILLESPIE syndrome" EXACT [DOID:0111578, OMIM:206700, Orphanet:1065] +synonym: "Gillespie syndrome" EXACT [DOID:0111578, OMIM:206700, Orphanet:1065] +synonym: "GLSP" EXACT ABBREVIATION [DOID:0111578, OMIM:206700] xref: DOID:0111578 {source="MONDO:equivalentTo"} xref: GARD:13 {source="MONDO:GARD"} xref: ICD10CM:G11.0 {source="Orphanet:1065", source="Orphanet:1065/attributed", source="Orphanet:1065/ntbt"} @@ -185048,7 +185075,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aniridia partial with unilateral renal agenesis and psychomotor retardation" RELATED [GARD:0000690] synonym: "aniridia renal agenesis psychomotor retardation" RELATED [GARD:0000690] -synonym: "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" RELATED [OMIM:206750] +synonym: "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" RELATED [] synonym: "Sommer Rathbun Battles syndrome" RELATED [GARD:0000690] synonym: "Sommer-Rathbun-Battles syndrome" EXACT [Orphanet:1064] xref: GARD:690 {source="MONDO:GARD"} @@ -185083,11 +185110,11 @@ subset: orphanet_rare {source="Orphanet:99797"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "absence of permanent teeth" RELATED [GARD:0005818] -synonym: "anodontia of permanent dentition" RELATED [OMIM:206780] -synonym: "complete absence of teeth" EXACT [DOID:13714] -synonym: "developmental absence of tooth" EXACT [DOID:13714] -synonym: "teeth, permanent, absence of" RELATED [OMIM:206780] -synonym: "total anodontia of permanent and deciduous teeth" EXACT [DOID:13714] +synonym: "anodontia of permanent dentition" RELATED [] +synonym: "complete absence of teeth" EXACT [DOID:13714, icd11.foundation:413433873] +synonym: "developmental absence of tooth" EXACT [DOID:13714, icd11.foundation:413433873] +synonym: "teeth, permanent, absence of" RELATED [] +synonym: "total anodontia of permanent and deciduous teeth" EXACT [DOID:13714, icd11.foundation:413433873] xref: DOID:13714 {source="MONDO:equivalentTo"} xref: GARD:5818 {source="MONDO:GARD"} xref: ICD10CM:K00.0 {source="Orphanet:99797", source="DOID:13714", source="MONDO:equivalentTo", source="Orphanet:99797/e", source="Orphanet:99797/specific"} @@ -185118,17 +185145,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:94150"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anonychia congenita" RELATED [DOID:0050643] -synonym: "anonychia congenita totalis" RELATED [Orphanet:94150] -synonym: "anonychia totalis" RELATED [OMIM:206800] -synonym: "anonychia/hyponychia congenita" RELATED [OMIM:206800] -synonym: "HYPONYCHIA congenita" EXACT [DOID:0050643] +synonym: "anonychia congenita" RELATED [] +synonym: "anonychia congenita totalis" RELATED [] +synonym: "anonychia totalis" RELATED [] +synonym: "anonychia/hyponychia congenita" RELATED [] +synonym: "HYPONYCHIA congenita" EXACT [DOID:0080082] synonym: "isolated congenital anonychia caused by mutation in RSPO4" EXACT [MONDO:design_pattern] -synonym: "nail disorder, nonsyndromic congenital, 4" RELATED [MONDO:Lexical, OMIM:206800] -synonym: "nail disorder, nonsyndromic congenital, type 4" EXACT [MONDORULE:1, OMIM:206800] -synonym: "NDNC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:206800] -synonym: "nonsyndromic congenital nail disorder 4" EXACT CLINGEN_LABEL [] -synonym: "nonsyndromic congenital nail disorder type 4" EXACT [DOID:0080082, MONDORULE:1] +synonym: "nail disorder, nonsyndromic congenital, 4" RELATED [MONDO:Lexical] +synonym: "nail disorder, nonsyndromic congenital, type 4" EXACT [MONDORULE:1] +synonym: "NDNC4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nonsyndromic congenital nail disorder 4" EXACT CLINGEN_LABEL [DOID:0080082] +synonym: "nonsyndromic congenital nail disorder type 4" EXACT [MONDORULE:1] synonym: "RSPO4 isolated congenital anonychia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050643 {source="MONDO:equivalentObsolete"} xref: DOID:0080082 {source="MONDO:equivalentTo"} @@ -185157,21 +185184,21 @@ subset: ordo_malformation_syndrome {source="Orphanet:77298"} subset: orphanet_rare {source="Orphanet:77298"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Aeg syndrome" RELATED [OMIM:206900] +synonym: "Aeg syndrome" RELATED [] synonym: "anophthalmia clinical with associated anomalies" RELATED [GARD:0001443] synonym: "anophthalmia esophageal genital syndrome" RELATED [GARD:0001443] synonym: "anophthalmia microphthalmia esophageal atresia" RELATED [GARD:0001443] -synonym: "anophthalmia, clinical, with associated anomalies" RELATED [OMIM:206900] -synonym: "anophthalmia-esophageal-genital syndrome" RELATED [OMIM:206900] -synonym: "anophthalmia/microphthalmia-esophageal atresia syndrome" EXACT CLINGEN_LABEL [] -synonym: "MCOPS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:206900, Orphanet:77298] -synonym: "microphthalmia and esophageal atresia syndrome" RELATED [OMIM:206900] -synonym: "microphthalmia, syndromic 3" RELATED [MONDO:Lexical, OMIM:206900] -synonym: "microphthalmia, syndromic type 3" EXACT [MONDORULE:1, OMIM:206900] -synonym: "optic nerve hypoplasia and abnormalities of the central nervous system" RELATED [OMIM:206900] +synonym: "anophthalmia, clinical, with associated anomalies" RELATED [] +synonym: "anophthalmia-esophageal-genital syndrome" RELATED [] +synonym: "anophthalmia/microphthalmia-esophageal atresia syndrome" EXACT CLINGEN_LABEL [DOID:0111801, Orphanet:77298] +synonym: "MCOPS3" EXACT ABBREVIATION [DOID:0111801, MONDO:Lexical, OMIM:206900, Orphanet:77298] +synonym: "microphthalmia and esophageal atresia syndrome" RELATED [] +synonym: "microphthalmia, syndromic 3" RELATED [MONDO:Lexical] +synonym: "microphthalmia, syndromic type 3" EXACT [MONDORULE:1] +synonym: "optic nerve hypoplasia and abnormalities of the central nervous system" RELATED [] synonym: "SOX2 anophthalmia syndrome" RELATED [GARD:0001443] synonym: "SOX2-related eye disorders" RELATED [GARD:0001443] -synonym: "syndromic microphthalmia type 3" EXACT [Orphanet:77298] +synonym: "syndromic microphthalmia type 3" EXACT [DOID:0111801, Orphanet:77298] synonym: "syndromic microphthalmia, type 3" RELATED [GARD:0001443] xref: DOID:0111801 {source="MONDO:equivalentTo"} xref: GARD:1443 {source="MONDO:GARD"} @@ -185197,15 +185224,15 @@ subset: orphanet_rare {source="Orphanet:1106"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anophthalmia Waardenburg syndrome" RELATED [GARD:0000722] -synonym: "anophthalmia-syndactyly" RELATED [OMIM:206920] +synonym: "anophthalmia-syndactyly" RELATED [] synonym: "anophthalmia-syndactyly syndrome" EXACT [DOID:0060861, Orphanet:1106] synonym: "anophthalmos with limb anomalies" RELATED [GARD:0000722] synonym: "anophthalmos-syndactyly" RELATED [GARD:0000722] -synonym: "microphthalmia with limb anomalies" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:206920] +synonym: "microphthalmia with limb anomalies" EXACT CLINGEN_LABEL [DOID:0060861, MONDO:Lexical, OMIM:206920, Orphanet:1106] synonym: "MLA" EXACT ABBREVIATION [DOID:0060861, MONDO:Lexical, OMIM:206920] synonym: "OAS" EXACT ABBREVIATION [DOID:0060861, Orphanet:1106] -synonym: "Ophthalmoacromelic syndrome" EXACT [OMIM:206920, Orphanet:1106] -synonym: "ophthalmoacromelic syndrome" EXACT [DOID:0060861] +synonym: "Ophthalmoacromelic syndrome" EXACT [DOID:0060861, OMIM:206920, Orphanet:1106] +synonym: "ophthalmoacromelic syndrome" EXACT [DOID:0060861, OMIM:206920, Orphanet:1106] synonym: "Waardenburg anophthalmia syndrome" EXACT [DOID:0060861, OMIM:206920, Orphanet:1106] xref: DOID:0060861 {source="MONDO:equivalentTo"} xref: GARD:722 {source="MONDO:GARD"} @@ -185253,11 +185280,11 @@ subset: orphanet_rare {source="Orphanet:83"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Antley Bixler syndrome" RELATED [GARD:0005826] -synonym: "multisynostotic osteodysgenesis with long bone fractures" RELATED [OMIM:207410] +synonym: "multisynostotic osteodysgenesis with long bone fractures" RELATED [] synonym: "osteodysgenesis, multisynostotic with fractures" RELATED [GARD:0005826] -synonym: "osteodysgenesis, multisynostotic, with fractures" RELATED [OMIM:207410] +synonym: "osteodysgenesis, multisynostotic, with fractures" RELATED [] synonym: "trapezoidocephaly synostosis syndrome" RELATED [GARD:0005826] -synonym: "trapezoidocephaly-synostosis syndrome" EXACT [DOID:0050462, OMIM:207410] +synonym: "trapezoidocephaly-synostosis syndrome" EXACT [DOID:0050462] xref: DOID:0050462 {source="MONDO:equivalentTo"} xref: DOID:0081289 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:5826 {source="MONDO:GARD"} @@ -185301,7 +185328,7 @@ subset: orphanet_rare {source="Orphanet:1112"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Aphalangy of the hands and feet, hemivertebrae, and visceral malformations" RELATED [GARD:0003051] -synonym: "APHALANGY with hemivertebrae" RELATED [OMIM:207620] +synonym: "APHALANGY with hemivertebrae" RELATED [] synonym: "Johnson Munson syndrome" RELATED [GARD:0003051] synonym: "Johnson-Munson syndrome" EXACT [Orphanet:1112] xref: GARD:3051 {source="MONDO:GARD"} @@ -185320,8 +185347,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008807 name: obsolete apnea, central sleep -synonym: "apnea, central sleep" EXACT [OMIM:107640, OMIM:207720] -synonym: "sleep apnea, lethal central" RELATED [OMIM:207720] +synonym: "apnea, central sleep" EXACT [] +synonym: "sleep apnea, lethal central" RELATED [] xref: OMIM:107640 {source="MONDO:obsoleteEquivalent"} xref: OMIM:207720 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} @@ -185339,10 +185366,10 @@ subset: ordo_disorder {source="Orphanet:1116"} subset: orphanet_rare {source="Orphanet:1116"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACC with intestinal lymphangiectasia" RELATED [OMIM:207731] +synonym: "ACC with intestinal lymphangiectasia" RELATED [] synonym: "aplasia cutis congenita intestinal lymphangiectasia" RELATED [GARD:0000753] -synonym: "aplasia cutis congenita with intestinal lymphangiectasia" RELATED [OMIM:207731] -synonym: "autosomal recessive aplasia cutis" EXACT [Orphanet:1116] +synonym: "aplasia cutis congenita with intestinal lymphangiectasia" RELATED [] +synonym: "autosomal recessive aplasia cutis" EXACT [] synonym: "Bronspiegel-Zelnick syndrome" EXACT [Orphanet:1116] xref: GARD:753 {source="MONDO:GARD"} xref: MEDGEN:349241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -185368,10 +185395,10 @@ subset: orphanet_rare {source="Orphanet:2926"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathy" RELATED OMO:0003005 [] -synonym: "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy" RELATED [OMIM:207740] +synonym: "aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy" RELATED [] synonym: "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalised polyneuropathy" RELATED OMO:0003005 [] synonym: "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy" RELATED [GARD:0002589, MESH:C535624] -synonym: "digital extensor muscle aplasia-polyneuropathy" RELATED [Orphanet:2926] +synonym: "digital extensor muscle aplasia-polyneuropathy" RELATED [] synonym: "Hamanishi Ueba Tsuji syndrome" EXACT [GARD:0002589] synonym: "Hamanishi-Ueba-Tsuji syndrome" EXACT [MONDO:0023303, Orphanet:2926] synonym: "polyneuropathy, hand defect" RELATED [GARD:0002589] @@ -185394,13 +185421,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309020"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Apoc2 deficiency" RELATED [OMIM:207750] -synonym: "apolipoprotein C-II deficiency" RELATED [OMIM:207750] -synonym: "C-II Anapolipoproteinemia" RELATED [OMIM:207750] -synonym: "familial apoC-II deficiency" EXACT [Orphanet:309020] -synonym: "familial apolipoprotein C-II deficiency" EXACT CLINGEN_LABEL [] -synonym: "hyperlipoproteinemia, type 1B" RELATED [OMIM:207750] -synonym: "hyperlipoproteinemia, type IB" EXACT [GARD:0000759, https://orcid.org/0000-0001-5208-3432] +synonym: "Apoc2 deficiency" RELATED [] +synonym: "apolipoprotein C-II deficiency" RELATED [] +synonym: "C-II Anapolipoproteinemia" RELATED [] +synonym: "familial apoC-II deficiency" EXACT [DOID:0111418, Orphanet:309020] +synonym: "familial apolipoprotein C-II deficiency" EXACT CLINGEN_LABEL [DOID:0111418, icd11.foundation:877401371, Orphanet:309020] +synonym: "hyperlipoproteinemia, type 1B" RELATED [] +synonym: "hyperlipoproteinemia, type IB" EXACT [DOID:0111418, GARD:0000759, https://orcid.org/0000-0001-5208-3432] xref: DOID:0111418 {source="MONDO:equivalentTo"} xref: GARD:759 {source="MONDO:GARD"} xref: ICD10CM:E78.3 {source="Orphanet:309020/attributed", source="Orphanet:309020/ntbt", source="Orphanet:309020"} @@ -185425,12 +185452,12 @@ subset: ordo_disorder {source="Orphanet:3469"} subset: ordo_malformation_syndrome {source="Orphanet:3469"} subset: orphanet_rare {source="Orphanet:3469"} subset: rare -synonym: "aprosencephaly syndrome" RELATED [OMIM:207770] +synonym: "aprosencephaly syndrome" RELATED [] synonym: "aprosencephaly-atelencephaly syndrome" RELATED [GARD:0000424] -synonym: "atelencephaly" RELATED [Orphanet:3469] +synonym: "atelencephaly" RELATED [] synonym: "Garcia-Lurie syndrome" EXACT [OMIM:207770, Orphanet:3469] -synonym: "XK aprosencephaly syndrome" RELATED [Orphanet:3469] -synonym: "Xk syndrome" RELATED [OMIM:207770] +synonym: "XK aprosencephaly syndrome" RELATED [] +synonym: "Xk syndrome" RELATED [] synonym: "XK-aprosencephaly" EXACT [Orphanet:3469] synonym: "XK-aprosencephaly syndrome" RELATED [GARD:0000424] xref: GARD:424 {source="MONDO:GARD"} @@ -185458,8 +185485,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acral renal ectodermal dysplasia lipoatrophic diabetes" RELATED [GARD:0008509] synonym: "acrorenal defect-ectodermal dysplasia-diabetes syndrome" EXACT [Orphanet:1133] -synonym: "acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes" RELATED [OMIM:207780] -synonym: "AREDYLD" RELATED ABBREVIATION [OMIM:207780] +synonym: "acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes" RELATED [] +synonym: "AREDYLD" RELATED ABBREVIATION [] xref: GARD:8509 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1133/attributed", source="Orphanet:1133/ntbt", source="Orphanet:1133"} xref: icd11.foundation:2007371732 {source="MONDO:equivalentTo"} @@ -185512,11 +185539,11 @@ subset: ordo_disorder {source="Orphanet:90"} subset: orphanet_rare {source="Orphanet:90"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Arg1 deficiency" RELATED [OMIM:207800] -synonym: "arginase deficiency" EXACT [OMIM:207800, Orphanet:90] -synonym: "argininemia" EXACT [DOID:9278] +synonym: "Arg1 deficiency" RELATED [] +synonym: "arginase deficiency" EXACT [DOID:9278, icd11.foundation:1619102598, OMIM:207800, Orphanet:90] +synonym: "argininemia" EXACT [DOID:9278, NCIT:C84568, OMIM:207800, Orphanet:90] synonym: "deficiency of canavanase" EXACT [DOID:9278] -synonym: "hyperargininemia" EXACT CLINGEN_LABEL [OMIM:207800, Orphanet:90] +synonym: "hyperargininemia" EXACT CLINGEN_LABEL [DOID:9278, NCIT:C84568, OMIM:207800, Orphanet:90] xref: DOID:9278 {source="MONDO:equivalentTo"} xref: GARD:5840 {source="MONDO:GARD"} xref: ICD10CM:E72.2 {source="Orphanet:90", source="Orphanet:90/attributed", source="Orphanet:90/ntbt"} @@ -185551,13 +185578,13 @@ subset: orphanet_rare {source="Orphanet:23"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arginino succinase deficiency" RELATED [GARD:0005843] -synonym: "argininosuccinase deficiency" EXACT [OMIM:207900, Orphanet:23] +synonym: "argininosuccinase deficiency" EXACT [icd11.foundation:439383288, OMIM:207900, Orphanet:23] synonym: "argininosuccinate acidemia" RELATED [GARD:0005843] -synonym: "argininosuccinate lyase deficiency" RELATED [OMIM:207900] +synonym: "argininosuccinate lyase deficiency" RELATED [] synonym: "argininosuccinatelyase deficiency" EXACT [Orphanet:23] synonym: "argininosuccinic acid lyase deficiency" EXACT [OMIM:207900, Orphanet:23] synonym: "argininosuccinic acidemia" EXACT [DOID:14755] -synonym: "argininosuccinic aciduria" EXACT CLINGEN_LABEL [OMIM:207900] +synonym: "argininosuccinic aciduria" EXACT CLINGEN_LABEL [DOID:14755, icd11.foundation:439383288, NCIT:C84569, OMIM:207900, Orphanet:23] synonym: "argininosuccinicaciduria" RELATED [GARD:0005843] synonym: "arginosuccinase deficiency" EXACT [DOID:14755] synonym: "ASA deficiency" EXACT [Orphanet:23] @@ -185599,13 +185626,13 @@ subset: ordo_morphological_anomaly {source="Orphanet:1136"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Arnold Chiari malformation type II" RELATED [GARD:0009232] -synonym: "Arnold-Chiari malformation" RELATED [OMIM:207950] -synonym: "Arnold-Chiari malformation type 2" EXACT [Orphanet:1136] -synonym: "Arnold-Chiari malformation type II" EXACT [Orphanet:1136] -synonym: "Chiari malformation type 2" EXACT [Orphanet:1136] -synonym: "Chiari malformation type II" EXACT [OMIM:207950, Orphanet:1136] +synonym: "Arnold-Chiari malformation" RELATED [] +synonym: "Arnold-Chiari malformation type 2" EXACT [] +synonym: "Arnold-Chiari malformation type II" EXACT [] +synonym: "Chiari malformation type 2" EXACT [OMIM:207950] +synonym: "Chiari malformation type II" EXACT [] synonym: "Chiari type II malformation" RELATED [GARD:0009232] -synonym: "Cm2" RELATED [OMIM:207950] +synonym: "Cm2" RELATED [] xref: GARD:9232 {source="MONDO:GARD"} xref: ICD10CM:Q07.0 {source="Orphanet:1136", source="Orphanet:1136/e", source="Orphanet:1136/specific"} xref: MedDRA:10056945 {source="Orphanet:1136", source="Orphanet:1136/e"} @@ -185626,16 +185653,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arterial calcification of infancy caused by mutation in ENPP1" EXACT [MONDO:design_pattern] synonym: "arterial calcification, generalized, of infancy, 1" EXACT [MONDO:Lexical, OMIM:208000] -synonym: "arterial calcification, generalized, of infancy, type 1" EXACT [MONDORULE:1, OMIM:208000] -synonym: "arterial calcification, idiopathic infantile" RELATED [OMIM:208000] -synonym: "arteriopathy, occlusive infantile" RELATED [OMIM:208000] -synonym: "coronary sclerosis, medial, of infancy" RELATED [OMIM:208000] +synonym: "arterial calcification, generalized, of infancy, type 1" EXACT [MONDORULE:1] +synonym: "arterial calcification, idiopathic infantile" RELATED [] +synonym: "arteriopathy, occlusive infantile" RELATED [] +synonym: "coronary sclerosis, medial, of infancy" RELATED [] synonym: "ENPP1 arterial calcification of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Gaci" RELATED [OMIM:208000] -synonym: "GACI1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208000] +synonym: "Gaci" RELATED [] +synonym: "GACI1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "generalised arterial calcification of infancy 1" EXACT OMO:0003005 [] synonym: "generalized arterial calcification of infancy 1" EXACT [NCIT:C128805] -synonym: "idiopathic infantile arterial calcification" RELATED [OMIM:208000] +synonym: "idiopathic infantile arterial calcification" RELATED [] xref: MEDGEN:1631685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C128805 {source="MONDO:equivalentTo"} xref: OMIM:208000 {source="MONDO:equivalentTo"} @@ -185657,9 +185684,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:3342"} subset: orphanet_rare {source="Orphanet:3342"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arterial tortuosity" RELATED [OMIM:208050] -synonym: "arterial tortuosity syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:208050] -synonym: "ATS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208050, Orphanet:3342] +synonym: "arterial tortuosity" RELATED [] +synonym: "arterial tortuosity syndrome" EXACT CLINGEN_LABEL [DOID:0050645, ICD10CM:Q87.82, icd11.foundation:371764699, MONDO:Lexical, OMIM:208050, Orphanet:3342] +synonym: "ATS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050645 {source="MONDO:equivalentTo"} xref: GARD:774 {source="MONDO:GARD"} xref: ICD10CM:I77.1 {source="Orphanet:3342", source="Orphanet:3342/attributed", source="Orphanet:3342/ntbt"} @@ -185698,8 +185725,8 @@ replaced_by: MONDO:0014243 [Term] id: MONDO:0008821 name: arthrogryposis, distal, with intellectual disability and characteristic facies -synonym: "arthrogryposis, distal, with intellectual disability and characteristic facies" EXACT [OMIM:208081] -synonym: "arthrogryposis, distal, with mental retardation and characteristic facies" EXACT DEPRECATED [OMIM:208081] +synonym: "arthrogryposis, distal, with intellectual disability and characteristic facies" EXACT [] +synonym: "arthrogryposis, distal, with mental retardation and characteristic facies" EXACT DEPRECATED [] xref: MEDGEN:1844539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565940 {source="MONDO:equivalentTo"} xref: OMIM:208081 {source="MONDO:equivalentTo"} @@ -185714,10 +185741,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15139", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Arc syndrome" RELATED [OMIM:208085] -synonym: "ARCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208085] -synonym: "arthrogryposis, renal dysfunction, and cholestasis 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:208085] -synonym: "arthrogryposis, renal dysfunction, and cholestasis type 1" EXACT [MONDORULE:1, OMIM:208085] +synonym: "Arc syndrome" RELATED [] +synonym: "ARCS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "arthrogryposis, renal dysfunction, and cholestasis 1" EXACT CLINGEN_LABEL [DOID:0111353, MONDO:Lexical, OMIM:208085] +synonym: "arthrogryposis, renal dysfunction, and cholestasis type 1" EXACT [MONDORULE:1] synonym: "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B" EXACT [MONDO:design_pattern] synonym: "VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111353 {source="MONDO:equivalentTo"} @@ -185743,10 +185770,10 @@ subset: orphanet_rare {source="Orphanet:1143"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AMC neurogenic type" EXACT [DOID:0090124] -synonym: "AMC, neurogenic type" RELATED [OMIM:208100] -synonym: "AMCN" EXACT ABBREVIATION [DOID:0090124, MONDO:Lexical, OMIM:208100] +synonym: "AMC, neurogenic type" RELATED [] +synonym: "AMCN" EXACT ABBREVIATION [DOID:0090124, MONDO:Lexical] synonym: "arthrogryposis multiplex congenita neurogenic type" EXACT [DOID:0090124] -synonym: "arthrogryposis multiplex congenita, neurogenic type" RELATED [MONDO:Lexical, OMIM:208100] +synonym: "arthrogryposis multiplex congenita, neurogenic type" RELATED [MONDO:Lexical] synonym: "neurogenic arthrogryposis multiplex congenita" EXACT [Orphanet:1143] synonym: "neurogenic type of AMC" RELATED [GARD:0000790] xref: DOID:0090124 {source="MONDO:equivalentTo"} @@ -185771,11 +185798,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:994"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis multiplex congenita with pulmonary hypoplasia" RELATED [OMIM:208150] -synonym: "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT [Orphanet:994] -synonym: "FADS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:208150, Orphanet:994] -synonym: "fetal akinesia deformation sequence" EXACT [MONDO:Lexical, OMIM:208150] -synonym: "fetal akinesia sequence" RELATED [OMIM:208150] +synonym: "arthrogryposis multiplex congenita with pulmonary hypoplasia" RELATED [] +synonym: "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT [DOID:0111375] +synonym: "FADS" EXACT ABBREVIATION [DOID:0111375, MONDO:Lexical, NCIT:C129071] +synonym: "fetal akinesia deformation sequence" EXACT [MONDO:Lexical, NCIT:C129071, OMIMPS:208150] +synonym: "fetal akinesia sequence" RELATED [] synonym: "foetal akinesia sequence" RELATED OMO:0003005 [] xref: DOID:0111375 {source="MONDO:equivalentTo"} xref: GARD:9634 {source="MONDO:GARD"} @@ -185806,10 +185833,10 @@ subset: orphanet_rare {source="Orphanet:1150"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arthrogryposis multiplex congenita whistling face" RELATED [GARD:0000792] -synonym: "arthrogryposis, whistling face, and developintellectual disability" RELATED [OMIM:208155] -synonym: "arthrogryposis, whistling face, and developmental retardation" RELATED DEPRECATED [OMIM:208155] -synonym: "ILLUM syndrome" RELATED [OMIM:208155] -synonym: "Illum syndrome" EXACT [Orphanet:1150] +synonym: "arthrogryposis, whistling face, and developintellectual disability" RELATED [] +synonym: "arthrogryposis, whistling face, and developmental retardation" RELATED DEPRECATED [] +synonym: "ILLUM syndrome" RELATED [] +synonym: "Illum syndrome" EXACT [OMIM:208155, Orphanet:1150] synonym: "lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system" RELATED [GARD:0000792] xref: GARD:792 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1150/attributed", source="Orphanet:1150/ntbt", source="Orphanet:1150"} @@ -185832,7 +185859,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1485"} subset: orphanet_rare {source="Orphanet:1485"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis with hyperkeratosis" RELATED [OMIM:208158] +synonym: "arthrogryposis with hyperkeratosis" RELATED [] synonym: "Johnston Aarons Schelley syndrome" RELATED [GARD:0003053] synonym: "Johnston-Aarons-Schelley syndrome" EXACT [Orphanet:1485] synonym: "Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns" RELATED [GARD:0003053] @@ -185855,15 +185882,15 @@ subset: ordo_disorder {source="Orphanet:1159"} subset: orphanet_rare {source="Orphanet:1159"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthropathy, progressive pseudorheumatoid, of childhood" RELATED [MONDO:Lexical, OMIM:208230] -synonym: "PPAC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208230] +synonym: "arthropathy, progressive pseudorheumatoid, of childhood" RELATED [MONDO:Lexical] +synonym: "PPAC" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PPD" RELATED AMBIGUOUS [GARD:0009184] -synonym: "progressive pseudorheumatoid arthropathy of childhood" EXACT CLINGEN_LABEL [OMIM:208230] +synonym: "progressive pseudorheumatoid arthropathy of childhood" EXACT CLINGEN_LABEL [DOID:0090004, icd11.foundation:280808713, OMIM:208230, Orphanet:1159] synonym: "progressive pseudorheumatoid chondrodysplasia" RELATED [GARD:0009184] -synonym: "progressive pseudorheumatoid dysplasia" RELATED [OMIM:208230] +synonym: "progressive pseudorheumatoid dysplasia" RELATED [] synonym: "SEDT-PA" RELATED [GARD:0009184] synonym: "spondyloepiphyseal dysplasia tarda - progressive arthropathy" RELATED [GARD:0009184] -synonym: "spondyloepiphyseal dysplasia tarda with progressive arthropathy" RELATED [OMIM:208230] +synonym: "spondyloepiphyseal dysplasia tarda with progressive arthropathy" RELATED [] synonym: "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" EXACT [DOID:0090004, Orphanet:1159] xref: DOID:0090004 {source="MONDO:equivalentTo"} xref: GARD:9184 {source="MONDO:GARD"} @@ -185893,20 +185920,20 @@ subset: orphanet_rare {source="Orphanet:2848"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arthropathy camptodactyly syndrome" RELATED [GARD:0000306] -synonym: "arthropathy-camptodactyly syndrome" EXACT [DOID:0090127, Orphanet:2848] +synonym: "arthropathy-camptodactyly syndrome" EXACT [DOID:0090127, OMIM:208250, Orphanet:2848] synonym: "CACP" EXACT ABBREVIATION [DOID:0090127, MONDO:Lexical, OMIM:208250] synonym: "CACP syndrome" EXACT [DOID:0090127, Orphanet:2848] synonym: "camptodactyly arthropathy coxa vara pericarditis syndrome" RELATED [GARD:0000306] synonym: "camptodactyly arthropathy pericarditis syndrome" RELATED [GARD:0000306] -synonym: "camptodactyly-arthropathy-coxa vara-pericarditis syndrome" EXACT CLINGEN_LABEL [GARD:0000306, MONDO:Lexical, OMIM:208250] +synonym: "camptodactyly-arthropathy-coxa vara-pericarditis syndrome" EXACT CLINGEN_LABEL [DOID:0090127, GARD:0000306, MONDO:Lexical, OMIM:208250] synonym: "camptodactyly-arthropathy-coxa-vara-pericarditis syndrome" RELATED [GARD:0000306] -synonym: "camptodactyly-arthropathy-pericarditis syndrome" EXACT [DOID:0090127] -synonym: "CAP syndrome" RELATED EXCLUDE [DOID:0090127, OMIM:208250] +synonym: "camptodactyly-arthropathy-pericarditis syndrome" EXACT [DOID:0090127, OMIM:208250] +synonym: "CAP syndrome" RELATED EXCLUDE [] synonym: "congenital familial hypertrophic synovitis" EXACT [DOID:0090127] synonym: "familial fibrosing serositis" EXACT [DOID:0090127] -synonym: "fibrosing serositis, familial" RELATED [GARD:0000306, OMIM:208250] -synonym: "hypertrophic synovitis, congenital familial" RELATED [OMIM:208250] -synonym: "Jacobs syndrome" EXACT [DOID:0090127, Orphanet:2848] +synonym: "fibrosing serositis, familial" RELATED [GARD:0000306] +synonym: "hypertrophic synovitis, congenital familial" RELATED [] +synonym: "Jacobs syndrome" EXACT [DOID:0090127, OMIM:208250] synonym: "PAC syndrome" EXACT [DOID:0090127, GARD:0000306, OMIM:208250] synonym: "pericarditis arthropathy camptodactyly syndrome" RELATED [GARD:0000306] synonym: "pericarditis-arthropathy-camptodactyly syndrome" EXACT [DOID:0090127, GARD:0000306, OMIM:208250, Orphanet:2848] @@ -185935,7 +185962,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:1160"} subset: orphanet_rare {source="Orphanet:1160"} subset: rare -synonym: "ascites, chylous" RELATED [OMIM:208300] +synonym: "ascites, chylous" RELATED [] synonym: "congenital chylous ascites" RELATED [GARD:0001359] xref: GARD:1359 {source="MONDO:GARD"} xref: ICD10CM:I89.8 {source="Orphanet:1160/ntbt", source="Orphanet:1160"} @@ -185963,14 +185990,14 @@ subset: ordo_disorder {source="Orphanet:93"} subset: orphanet_rare {source="Orphanet:93"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Aga deficiency" RELATED [OMIM:208400] -synonym: "AGU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208400] +synonym: "Aga deficiency" RELATED [] +synonym: "AGU" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Aspartylglucosamidase (AGA) deficiency" RELATED [GARD:0005854] -synonym: "aspartylglucosaminidase deficiency" EXACT [DOID:0050461, Orphanet:93] -synonym: "aspartylglucosaminuria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:208400] -synonym: "Aspartylglycosaminuria" EXACT [NORD:813] -synonym: "aspartylglycosaminuria" EXACT [DOID:0050461, OMIM:208400] -synonym: "Glycoasparaginase" RELATED [OMIM:208400] +synonym: "aspartylglucosaminidase deficiency" EXACT [DOID:0050461, icd11.foundation:2143470200, OMIM:208400, Orphanet:93] +synonym: "aspartylglucosaminuria" EXACT CLINGEN_LABEL [DOID:0050461, icd11.foundation:2143470200, MONDO:Lexical, NCIT:C61273, OMIM:208400, Orphanet:93] +synonym: "Aspartylglycosaminuria" EXACT [DOID:0050461, NCIT:C61273, NORD:813, OMIM:208400] +synonym: "aspartylglycosaminuria" EXACT [DOID:0050461, NCIT:C61273, OMIM:208400] +synonym: "Glycoasparaginase" RELATED [] synonym: "glycosylasparaginase deficiency" EXACT [DOID:0050461, OMIM:208400] xref: DOID:0050461 {source="MONDO:equivalentTo"} xref: GARD:5854 {source="MONDO:GARD"} @@ -186004,13 +186031,13 @@ def: "An asphyxiating thoracic dystrophy associated with variation in the region subset: gard_rare {source="GARD:15140", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "asphyxiating thoracic dystrophy 1" EXACT [OMIM:208500] -synonym: "asphyxiating thoracic dystrophy type 1" EXACT [DOID:0110085, MONDORULE:1] +synonym: "asphyxiating thoracic dystrophy 1" EXACT [DOID:0110085, OMIM:208500] +synonym: "asphyxiating thoracic dystrophy type 1" EXACT [MONDORULE:1] synonym: "ATD1" EXACT ABBREVIATION [DOID:0110085] -synonym: "Jeune syndrome" RELATED [OMIM:208500] +synonym: "Jeune syndrome" RELATED [] synonym: "short-rib thoracic dysplasia 1 with or without polydactyly" EXACT [DOID:0110085, MONDO:Lexical, OMIM:208500] synonym: "SRTD1" EXACT ABBREVIATION [DOID:0110085, MONDO:Lexical, OMIM:208500] -synonym: "thoracic-pelvic-phalangeal dystrophy" RELATED [OMIM:208500] +synonym: "thoracic-pelvic-phalangeal dystrophy" RELATED [] xref: DOID:0110085 {source="MONDO:equivalentTo"} xref: GARD:15140 {source="MONDO:GARD"} xref: ICD10CM:Q77.2 {source="DOID:0110085"} @@ -186032,20 +186059,20 @@ subset: orphanet_rare {source="Orphanet:97548"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "asplenia syndrome" RELATED [GARD:0006795] -synonym: "asplenia with cardiovascular anomalies" EXACT [DOID:0060856] +synonym: "asplenia with cardiovascular anomalies" EXACT [DOID:0060856, OMIM:208530] synonym: "bilateral right-sidedness sequence" RELATED [GARD:0006795] -synonym: "heterotaxy, Visceroatrial, autosomal recessive" RELATED [OMIM:208530] -synonym: "Ivemark Syndrome" EXACT [NORD:1305] -synonym: "Ivemark syndrome" EXACT [DOID:0060856, OMIM:208530] -synonym: "Polyasplenia" RELATED [OMIM:208530] -synonym: "polysplenia syndrome" RELATED [OMIM:208530] -synonym: "RAI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208530] -synonym: "right atrial isomerism" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:208530] +synonym: "heterotaxy, Visceroatrial, autosomal recessive" RELATED [] +synonym: "Ivemark Syndrome" EXACT [DOID:0060856, NORD:1305, OMIM:208530, Orphanet:97548] +synonym: "Ivemark syndrome" EXACT [DOID:0060856, OMIM:208530, Orphanet:97548] +synonym: "Polyasplenia" RELATED [] +synonym: "polysplenia syndrome" RELATED [] +synonym: "RAI" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "right atrial isomerism" EXACT [DOID:0060856, MONDO:ambiguous, MONDO:Lexical, OMIM:208530] synonym: "right atrial isomerism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "right atrial isomerism (ivemark)" EXACT [OMIM:208530, OMIM:genemap2] -synonym: "right isomerism" RELATED [OMIM:208530] +synonym: "right atrial isomerism (ivemark)" EXACT [] +synonym: "right isomerism" RELATED [] synonym: "splenic agenesis syndrome" RELATED [GARD:0006795] -synonym: "Vah, autosomal recessive" RELATED [OMIM:208530] +synonym: "Vah, autosomal recessive" RELATED [] xref: DOID:0060856 {source="MONDO:equivalentTo"} xref: GARD:6795 {source="MONDO:GARD"} xref: HP:0011536 {source="MONDO:otherHierarchy"} @@ -186070,9 +186097,9 @@ subset: rare synonym: "NPHP3 renal-hepatic-pancreatic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "renal-hepatic-pancreatic dysplasia 1" EXACT [MONDO:Lexical, OMIM:208540] synonym: "renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3" EXACT [MONDO:design_pattern] -synonym: "renal-hepatic-pancreatic dysplasia type 1" EXACT [MONDORULE:1, OMIM:208540] -synonym: "Rhpd" RELATED [OMIM:208540] -synonym: "RHPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208540] +synonym: "renal-hepatic-pancreatic dysplasia type 1" EXACT [MONDORULE:1] +synonym: "Rhpd" RELATED [] +synonym: "RHPD1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18431 {source="MONDO:GARD"} xref: MEDGEN:811626 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:208540 {source="MONDO:equivalentTo"} @@ -186086,10 +186113,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0008834 name: asthma, nasal polyps, and aspirin intolerance -synonym: "Asa triad" RELATED [OMIM:208550] -synonym: "asthma and nasal polyps" RELATED [OMIM:208550] -synonym: "asthma, aspirin-induced, susceptibility to" RELATED [OMIM:208550] -synonym: "asthma, nasal polyps, and aspirin intolerance" EXACT [OMIM:208550] +synonym: "Asa triad" RELATED [] +synonym: "asthma and nasal polyps" RELATED [] +synonym: "asthma, aspirin-induced, susceptibility to" RELATED [] +synonym: "asthma, nasal polyps, and aspirin intolerance" EXACT [DOID:0111579, OMIM:208550] xref: DOID:0111579 {source="MONDO:equivalentTo"} xref: MEDGEN:347198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:208550 {source="MONDO:equivalentTo"} @@ -186137,10 +186164,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:1188"} subset: orphanet_rare {source="Orphanet:1188"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Adr syndrome" RELATED [OMIM:208850] +synonym: "Adr syndrome" RELATED [] synonym: "ataxia, hearing loss, and intellectual disability" RELATED [GARD:0004644] synonym: "ataxia, hearing loss, and mental retardation" RELATED DEPRECATED [GARD:0004644] -synonym: "ataxia-deafness-retardation syndrome" RELATED [OMIM:208850] +synonym: "ataxia-deafness-retardation syndrome" RELATED [] synonym: "ataxia-hearing loss-intellectual disability syndrome" EXACT [Orphanet:1188] synonym: "familial ataxia, deafness, and developmental delay" RELATED [GARD:0004644] synonym: "Reardon Wilson Cavanagh syndrome" RELATED [GARD:0004644] @@ -186159,7 +186186,7 @@ is_a: MONDO:0016612 {source="Orphanet:1188"} ! X-linked cerebellar ataxia [Term] id: MONDO:0008839 name: ataxia-microcephaly-cataract syndrome -synonym: "AMC syndrome" RELATED [OMIM:208870] +synonym: "AMC syndrome" RELATED [] synonym: "ataxia-microcephaly-cataract syndrome" EXACT [OMIM:208870] xref: MEDGEN:167098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563086 {source="MONDO:equivalentTo"} @@ -186178,17 +186205,17 @@ subset: ordo_disorder {source="Orphanet:100"} subset: orphanet_rare {source="Orphanet:100"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208900] -synonym: "AT, complementation group A" RELATED [OMIM:208900] -synonym: "AT, complementation group C" RELATED [OMIM:208900] -synonym: "AT, complementation group D" RELATED [OMIM:208900] -synonym: "AT, complementation group E" RELATED [OMIM:208900] -synonym: "AT1" RELATED ABBREVIATION [OMIM:208900] -synonym: "ataxia - telangiectasia" EXACT [MONDO:Lexical, NCIT:C2887, OMIM:208900] -synonym: "ataxia - telangiectasia variant" RELATED [OMIM:208900] -synonym: "ataxia telangiectasia" EXACT CLINGEN_LABEL [NCIT:C2887] +synonym: "AT" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "AT, complementation group A" RELATED [] +synonym: "AT, complementation group C" RELATED [] +synonym: "AT, complementation group D" RELATED [] +synonym: "AT, complementation group E" RELATED [] +synonym: "AT1" RELATED ABBREVIATION [] +synonym: "ataxia - telangiectasia" EXACT [MONDO:Lexical] +synonym: "ataxia - telangiectasia variant" RELATED [] +synonym: "ataxia telangiectasia" EXACT CLINGEN_LABEL [DOID:12704, NCIT:C2887] synonym: "ataxia telangiectasia syndrome" EXACT [NCIT:C2887] -synonym: "ataxia-telangiectasia" RELATED [OMIM:208900] +synonym: "ataxia-telangiectasia" RELATED [] synonym: "boder-Sedgwick syndrome" EXACT [DOID:12704] synonym: "cerebello-oculocutaneous telangiectasia" RELATED [GARD:0005862] synonym: "immunodeficiency with ataxia telangiectasia" RELATED [GARD:0005862] @@ -186248,15 +186275,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AOA1" EXACT ABBREVIATION [Orphanet:1168] synonym: "APTX oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ataxia with oculomotor apraxia type 1" EXACT [Orphanet:1168] -synonym: "ataxia, adult-onset, with oculomotor apraxia" RELATED [OMIM:208920] +synonym: "ataxia with oculomotor apraxia type 1" EXACT [DOID:0050754] +synonym: "ataxia, adult-onset, with oculomotor apraxia" RELATED [] synonym: "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia" EXACT [MONDO:Lexical, OMIM:208920] -synonym: "ataxia-oculomotor apraxia 1" RELATED [OMIM:208920] -synonym: "ataxia-oculomotor apraxia syndrome" RELATED [OMIM:208920] -synonym: "ataxia-oculomotor apraxia type 1" RELATED [Orphanet:1168] -synonym: "ataxia-telangiectasia-like syndrome" RELATED [OMIM:208920] -synonym: "cerebellar ataxia, early-onset, with hypoalbuminemia" RELATED [OMIM:208920] -synonym: "EAOH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:208920] +synonym: "ataxia-oculomotor apraxia 1" RELATED [] +synonym: "ataxia-oculomotor apraxia syndrome" RELATED [] +synonym: "ataxia-oculomotor apraxia type 1" RELATED [] +synonym: "ataxia-telangiectasia-like syndrome" RELATED [] +synonym: "cerebellar ataxia, early-onset, with hypoalbuminemia" RELATED [] +synonym: "EAOH" RELATED ABBREVIATION [MONDO:Lexical] synonym: "early-onset ataxia with oculomotor apraxia and hypoalbuminemia" RELATED [GARD:0009283] synonym: "early-onset cerebellar ataxia with hypoalbuminemia" RELATED [GARD:0009283] synonym: "EOCA-HA" RELATED [GARD:0009283] @@ -186286,7 +186313,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1192"} subset: orphanet_rare {source="Orphanet:1192"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease" RELATED [OMIM:209010] +synonym: "atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease" RELATED [] synonym: "Feigenbaum Bergeron Richardson syndrome" RELATED [GARD:0002279] synonym: "Feigenbaum-Bergeron-Richardson syndrome" EXACT [Orphanet:1192] synonym: "premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder" RELATED [GARD:0002279] @@ -186330,13 +186357,13 @@ subset: ordo_disorder {source="Orphanet:1195"} subset: orphanet_rare {source="Orphanet:1195"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atransferrinemia" EXACT [OMIM:209300] -synonym: "congenital atransferrinemia" EXACT [NCIT:C125693] +synonym: "atransferrinemia" EXACT [DOID:0050649, NCIT:C125693, OMIM:209300] +synonym: "congenital atransferrinemia" EXACT [NCIT:C125693, Orphanet:1195] synonym: "congenital hypotransferrinemia" EXACT [Orphanet:1195] -synonym: "familial hypotransferrinemia" EXACT [DOID:0050649] +synonym: "familial hypotransferrinemia" EXACT [DOID:0050649, NCIT:C125693] synonym: "hereditary atransferrinemia" EXACT [NCIT:C125693] -synonym: "hypotransferrinemia, familial" RELATED [OMIM:209300] -synonym: "transferrin serum level quantitative trait locus 1" RELATED [OMIM:209300] +synonym: "hypotransferrinemia, familial" RELATED [] +synonym: "transferrin serum level quantitative trait locus 1" RELATED [] xref: DOID:0050649 {source="MONDO:equivalentTo"} xref: GARD:9595 {source="MONDO:GARD"} xref: ICD10CM:E88.0 {source="Orphanet:1195/index", source="Orphanet:1195/e", source="Orphanet:1195"} @@ -186367,8 +186394,8 @@ subset: ordo_disorder {source="Orphanet:86819"} subset: orphanet_rare {source="Orphanet:86819"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "APL" RELATED ABBREVIATION [DOID:0060689, MONDO:Lexical, OMIM:209500] -synonym: "atrichia with papular lesions" EXACT [MONDO:Lexical, OMIM:209500] +synonym: "APL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "atrichia with papular lesions" EXACT [DOID:0060689, MONDO:Lexical, OMIM:209500, Orphanet:86819] synonym: "papular atrichia" EXACT [DOID:0060689, OMIM:209500, Orphanet:86819] xref: DOID:0060689 {source="MONDO:equivalentTo"} xref: GARD:16762 {source="MONDO:GARD"} @@ -186387,8 +186414,8 @@ id: MONDO:0008848 name: atrioventricular dissociation def: "Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects." [MESH:D006327] subset: otar {source="MONDO:OTAR"} -synonym: "A-V dissociation" RELATED [OMIM:209600] -synonym: "atrioventricular dissociation" EXACT [MONDO:ambiguous, OMIM:209600] +synonym: "A-V dissociation" RELATED [] +synonym: "atrioventricular dissociation" EXACT [icd11.foundation:268503599, MONDO:ambiguous, OMIM:209600] synonym: "atrioventricular dissociation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0011709 {source="MONDO:otherHierarchy"} xref: icd11.foundation:268503599 {source="MONDO:equivalentTo"} @@ -186410,16 +186437,16 @@ subset: ordo_disorder {source="Orphanet:79100"} subset: orphanet_rare {source="Orphanet:79100"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atrophoderma vermiculata" EXACT [MONDO:Lexical, OMIM:209700] +synonym: "atrophoderma vermiculata" EXACT [DOID:0080756, MONDO:Lexical, OMIM:209700, Orphanet:79100] synonym: "atrophoderma vermiculatum" RELATED [GARD:0009744] synonym: "Atrophodermia reticulata" RELATED [GARD:0009744] -synonym: "Atrophodermia reticulata symmetrica faciei" RELATED [OMIM:209700] -synonym: "Atrophodermia vermiculata" RELATED [OMIM:209700] -synonym: "ava" RELATED [MONDO:Lexical, OMIM:209700] +synonym: "Atrophodermia reticulata symmetrica faciei" RELATED [] +synonym: "Atrophodermia vermiculata" RELATED [] +synonym: "ava" RELATED [MONDO:Lexical] synonym: "folliculitis ulerythematosa" RELATED [GARD:0009744] -synonym: "folliculitis ulerythematosa reticulata" RELATED [OMIM:209700] +synonym: "folliculitis ulerythematosa reticulata" RELATED [] synonym: "folliculitis ulerythematosa reticulate" EXACT [Orphanet:79100] -synonym: "honeycomb atrophy" RELATED [OMIM:209700] +synonym: "honeycomb atrophy" RELATED [] xref: DOID:0080756 {source="MONDO:equivalentTo"} xref: GARD:9744 {source="MONDO:GARD"} xref: ICD10CM:L66.4 {source="Orphanet:79100", source="Orphanet:79100/ntbt", source="Orphanet:79100/index"} @@ -186442,8 +186469,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1488"} subset: orphanet_rare {source="Orphanet:1488"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aural atresia, multiple congenital anomalies, and intellectual disability" RELATED [OMIM:209770] -synonym: "aural atresia, multiple congenital anomalies, and mental retardation" RELATED DEPRECATED [OMIM:209770] +synonym: "aural atresia, multiple congenital anomalies, and intellectual disability" RELATED [] +synonym: "aural atresia, multiple congenital anomalies, and mental retardation" RELATED DEPRECATED [] synonym: "aural atresia-multiple congenital anomalies-intellectual disability syndrome" EXACT [Orphanet:1488] xref: GARD:16567 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1488/attributed", source="Orphanet:1488/ntbt", source="Orphanet:1488"} @@ -186486,13 +186513,13 @@ subset: orphanet_rare {source="Orphanet:1231"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Barber Say syndrome" RELATED [GARD:0000819] -synonym: "BARBER-SAY syndrome" RELATED [OMIM:209885] -synonym: "Barber-Say syndrome" EXACT [MONDO:Lexical, OMIM:209885] -synonym: "BBRSAY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:209885] +synonym: "BARBER-SAY syndrome" RELATED [] +synonym: "Barber-Say syndrome" EXACT [DOID:0060549, icd11.foundation:37248895, MONDO:Lexical, OMIM:209885, Orphanet:1231] +synonym: "BBRSAY" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Brown Séquard Syndrome" EXACT [NORD:875] -synonym: "Bss" RELATED [OMIM:209885] +synonym: "Bss" RELATED [] synonym: "hypertrichosis atrophic skin ectropion macrostomia" RELATED [GARD:0000819] -synonym: "hypertrichosis, atrophic skin, ectropion, and macrostomia" RELATED [GARD:0000819, OMIM:209885] +synonym: "hypertrichosis, atrophic skin, ectropion, and macrostomia" RELATED [GARD:0000819] synonym: "hypertrichosis-atrophic skin-ectropion-macrostomia syndrome" EXACT [Orphanet:1231] xref: DOID:0060549 {source="MONDO:equivalentTo"} xref: GARD:819 {source="MONDO:GARD"} @@ -186519,9 +186546,9 @@ def: "A Bardet-Biedl syndrome that has material basis in homozygous mutation in subset: gard_rare {source="GARD:820", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 1" EXACT [MONDO:Lexical, OMIM:209900] -synonym: "Bardet-Biedl syndrome 1, modifier of" EXACT [OMIM:209900, OMIM:genemap2] -synonym: "Bardet-Biedl syndrome type 1" EXACT [DOID:0110123, MONDORULE:1, OMIM:209900] +synonym: "Bardet-Biedl syndrome 1" EXACT [DOID:0110123, MONDO:Lexical, OMIM:209900] +synonym: "Bardet-Biedl syndrome 1, modifier of" EXACT [] +synonym: "Bardet-Biedl syndrome type 1" EXACT [MONDORULE:1] synonym: "BBS1" EXACT ABBREVIATION [DOID:0110123, GARD:0000820, MONDO:Lexical, OMIM:209900] xref: DOID:0110123 {source="MONDO:equivalentTo"} xref: GARD:820 {source="MONDO:GARD"} @@ -186551,39 +186578,39 @@ subset: orphanet_rare {source="Orphanet:572"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BARE lymphocyte syndrome" RELATED [MESH:C537079] -synonym: "Bare lymphocyte syndrome" RELATED [OMIM:209920] +synonym: "Bare lymphocyte syndrome" RELATED [] synonym: "Bare lymphocyte syndrome 2" RELATED [GARD:0000824] -synonym: "Bare lymphocyte syndrome type 2" RELATED [GARD:0000824, MESH:C537079, Orphanet:572] -synonym: "bare lymphocyte syndrome type II" RELATED [DOID:5812] -synonym: "Bare lymphocyte syndrome, type 2" RELATED [OMIM:209920] -synonym: "BARE lymphocyte syndrome, type II" RELATED [OMIM:209920] +synonym: "Bare lymphocyte syndrome type 2" RELATED [GARD:0000824, MESH:C537079] +synonym: "bare lymphocyte syndrome type II" RELATED [] +synonym: "Bare lymphocyte syndrome, type 2" RELATED [] +synonym: "BARE lymphocyte syndrome, type II" RELATED [] synonym: "Bare lymphocyte syndrome, type II" RELATED [MESH:C537079] -synonym: "Bare lymphocyte syndrome, type II, complementation group A" RELATED [OMIM:209920] -synonym: "Bare lymphocyte syndrome, type II, complementation group B" RELATED [OMIM:209920] +synonym: "Bare lymphocyte syndrome, type II, complementation group A" RELATED [] +synonym: "Bare lymphocyte syndrome, type II, complementation group B" RELATED [] synonym: "BARE lymphocyte syndrome, type II, complementation group B, included" RELATED [MESH:C537079] -synonym: "Bare lymphocyte syndrome, type II, complementation group C" RELATED [OMIM:209920] +synonym: "Bare lymphocyte syndrome, type II, complementation group C" RELATED [] synonym: "BARE lymphocyte syndrome, type II, complementation group C, included" RELATED [MESH:C537079] -synonym: "Bare lymphocyte syndrome, type II, complementation group D" RELATED [OMIM:209920] +synonym: "Bare lymphocyte syndrome, type II, complementation group D" RELATED [] synonym: "BARE lymphocyte syndrome, type II, complementation group D, included" RELATED [MESH:C537079] -synonym: "Bare lymphocyte syndrome, type II, complementation group E" RELATED [OMIM:209920] +synonym: "Bare lymphocyte syndrome, type II, complementation group E" RELATED [] synonym: "BARE lymphocyte syndrome, type II, complementation group E, included" RELATED [MESH:C537079] synonym: "BLS" RELATED ABBREVIATION [MESH:C537079] synonym: "BLS 2" RELATED [GARD:0000824] synonym: "BLS type II" RELATED [MESH:C537079] -synonym: "Bls, type 2" RELATED [OMIM:209920] +synonym: "Bls, type 2" RELATED [] synonym: "BLS, type II" RELATED [MESH:C537079] -synonym: "BLSII" RELATED ABBREVIATION [DOID:5812] -synonym: "HLA class 2-negative SCID" EXACT [Orphanet:572] -synonym: "HLA class 2-negative severe combined immunodeficiency" EXACT [Orphanet:572] -synonym: "immunodeficiency by defective expression of HLA class 2" RELATED [Orphanet:572] -synonym: "immunodeficiency by defective expression of HLA class type 2" EXACT [MONDORULE:1, Orphanet:572] -synonym: "major histocompatibility complex class II expression deficiency" EXACT [Orphanet:572] -synonym: "MHC class II expression deficiency" EXACT [Orphanet:572] +synonym: "BLSII" RELATED ABBREVIATION [] +synonym: "HLA class 2-negative SCID" EXACT [] +synonym: "HLA class 2-negative severe combined immunodeficiency" EXACT [icd11.foundation:2021339495] +synonym: "immunodeficiency by defective expression of HLA class 2" RELATED [] +synonym: "immunodeficiency by defective expression of HLA class type 2" EXACT [MONDORULE:1] +synonym: "major histocompatibility complex class II expression deficiency" EXACT [] +synonym: "MHC class II expression deficiency" EXACT [] synonym: "SCID due to absent class II HLA antigens" EXACT [DOID:5812] synonym: "SCID, HLA Class 2-negative" RELATED [GARD:0000824, MESH:C537079] -synonym: "SCID, HLA Class II-negative" RELATED [MESH:C537079, OMIM:209920] +synonym: "SCID, HLA Class II-negative" RELATED [MESH:C537079] synonym: "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included" RELATED [MESH:C537079] -synonym: "severe combined immunodeficiency, HLA Class II-negative" RELATED [OMIM:209920] +synonym: "severe combined immunodeficiency, HLA Class II-negative" RELATED [] synonym: "severe combined immunodeficiency, HLA class ii-negative" RELATED [GARD:0000824, MESH:C537079] xref: DOID:5812 {source="MONDO:equivalentTo"} xref: GARD:824 {source="MONDO:GARD"} @@ -186616,12 +186643,12 @@ name: immunodeficiency 27A synonym: "atypical mycobacterial infection, disseminated" RELATED [GARD:0009185] synonym: "atypical mycobacterial infection, familial disseminated" RELATED [GARD:0009185] synonym: "atypical mycobacteriosis, familial" RELATED [GARD:0009185] -synonym: "IFNGR1 deficiency, autosomal recessive" RELATED [OMIM:209950] -synonym: "IMD27A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:209950] -synonym: "immunodeficiency 27A" EXACT [MONDO:Lexical, OMIM:209950] -synonym: "immunodeficiency 27A, mycobacteriosis, AR" EXACT [OMIM:209950, OMIM:genemap2] -synonym: "immunodeficiency 27A, Mycobacteriosis, autosomal recessive" RELATED [OMIM:209950] -synonym: "immunodeficiency type 27A" EXACT [MONDORULE:4, OMIM:209950] +synonym: "IFNGR1 deficiency, autosomal recessive" RELATED [] +synonym: "IMD27A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 27A" EXACT [DOID:0111955, MONDO:Lexical, NCIT:C176806, OMIM:209950] +synonym: "immunodeficiency 27A, mycobacteriosis, AR" EXACT [] +synonym: "immunodeficiency 27A, Mycobacteriosis, autosomal recessive" RELATED [] +synonym: "immunodeficiency type 27A" EXACT [MONDORULE:4] synonym: "mycobacterial disease, Mendelian susceptibility to" RELATED [GARD:0009185] xref: DOID:0111955 {source="MONDO:equivalentTo"} xref: MEDGEN:860386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -186649,9 +186676,9 @@ subset: orphanet_rare {source="Orphanet:1237"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Beemer Ertbruggen syndrome" RELATED [GARD:0000846] -synonym: "Beemer lethal malformation syndrome" RELATED [OMIM:209970] +synonym: "Beemer lethal malformation syndrome" RELATED [] synonym: "hydrocephalus, cardiac malformation, dense bones, etc" RELATED [GARD:0000846] -synonym: "hydrocephalus, Cardiac malformation, dense bones, etc." RELATED [OMIM:209970] +synonym: "hydrocephalus, Cardiac malformation, dense bones, etc." RELATED [] synonym: "lethal hydrocephalus-cardiac malformation-dense bones syndrome" EXACT [Orphanet:1237] synonym: "peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome" RELATED [GARD:0000846] xref: GARD:846 {source="MONDO:GARD"} @@ -186677,12 +186704,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:1239"} subset: orphanet_rare {source="Orphanet:1239"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Behr syndrome" EXACT [OMIM:210000] -synonym: "BEHRS" RELATED ABBREVIATION [OMIM:210000] +synonym: "Behr syndrome" EXACT [DOID:0111580, NCIT:C177251, OMIM:210000, Orphanet:1239] +synonym: "BEHRS" RELATED ABBREVIATION [] synonym: "optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss" RELATED [GARD:0000849] synonym: "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss" RELATED DEPRECATED [GARD:0000849] synonym: "optic atrophy, infantile hereditary, Behr complicated form of" RELATED [GARD:0000849] -synonym: "optic atrophy, infantile hereditary, with neurologic abnormalities" RELATED [OMIM:210000] +synonym: "optic atrophy, infantile hereditary, with neurologic abnormalities" RELATED [] xref: DOID:0111580 {source="MONDO:equivalentTo"} xref: GARD:849 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:1239", source="Orphanet:1239/index", source="Orphanet:1239/ntbt"} @@ -186707,7 +186734,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/849/behr-syn id: MONDO:0008859 name: berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification synonym: "berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" EXACT [OMIM:210050] -synonym: "cerebral aneurysm-cirrhosis syndrome" RELATED [OMIM:210050] +synonym: "cerebral aneurysm-cirrhosis syndrome" RELATED [] xref: MEDGEN:347170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565905 {source="MONDO:equivalentTo"} xref: OMIM:210050 {source="MONDO:equivalentTo"} @@ -186718,12 +186745,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8552/berry-a [Term] id: MONDO:0008860 name: beta-aminoisobutyric acid, urinary excretion of -synonym: "Baib urinary excretion" RELATED [OMIM:210100] -synonym: "BAIBA" RELATED ABBREVIATION [OMIM:210100] -synonym: "beta-aminoisobutyric acid, urinary excretion of" EXACT [OMIM:210100, OMIM:genemap2] -synonym: "BETA-aminoisobutyric aciduria" RELATED [OMIM:210100] -synonym: "Beta-aminoisobutyric aciduria" RELATED [OMIM:210100] -synonym: "hyper-Beta-aminoisobutyric aciduria" RELATED [OMIM:210100] +synonym: "Baib urinary excretion" RELATED [] +synonym: "BAIBA" RELATED ABBREVIATION [] +synonym: "beta-aminoisobutyric acid, urinary excretion of" EXACT [OMIM:210100] +synonym: "BETA-aminoisobutyric aciduria" RELATED [] +synonym: "Beta-aminoisobutyric aciduria" RELATED [] +synonym: "hyper-Beta-aminoisobutyric aciduria" RELATED [] xref: MEDGEN:347169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565904 {source="MONDO:equivalentTo"} xref: OMIM:210100 {source="MONDO:equivalentTo"} @@ -186745,28 +186772,28 @@ synonym: "3 Methylcrotonyl-CoA carboxylase 1 deficiency" RELATED [GARD:0005665] synonym: "3 Methylcrotonyl-CoA carboxylase deficiency" RELATED [GARD:0005665, MESH:C535308] synonym: "3 methylcrotonylglycinuria" RELATED [GARD:0005665, MESH:C535308] synonym: "3-MCC deficiency" RELATED [MESH:C535308] -synonym: "3-METHYLCROTONYL-CoA carboxylase 1 deficiency" RELATED [OMIM:210200] -synonym: "3-Methylcrotonyl-Coa carboxylase 1 deficiency" EXACT [MONDO:Lexical, OMIM:210200] -synonym: "3-methylcrotonyl-CoA carboxylase 1 deficiency" EXACT CLINGEN_LABEL [MESH:C535308] +synonym: "3-METHYLCROTONYL-CoA carboxylase 1 deficiency" RELATED [] +synonym: "3-Methylcrotonyl-Coa carboxylase 1 deficiency" EXACT [DOID:0080579, MONDO:Lexical, OMIM:210200] +synonym: "3-methylcrotonyl-CoA carboxylase 1 deficiency" EXACT CLINGEN_LABEL [DOID:0080579, MESH:C535308, OMIM:210200] synonym: "3-Methylcrotonyl-Coa carboxylase deficiency" RELATED [MESH:C535308] synonym: "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1" EXACT [MONDO:design_pattern] synonym: "3-Methylcrotonyl-Coenzyme A carboxylase deficiency" RELATED [MESH:C535308] synonym: "3-methylcrotonylglycinuria" RELATED [MESH:C535308] -synonym: "3-methylcrotonylglycinuria 1" RELATED [OMIM:210200] +synonym: "3-methylcrotonylglycinuria 1" RELATED [] synonym: "3-methylcrotonylglycinuria I" RELATED [MESH:C535308] synonym: "Bmcc deficiency" RELATED [MESH:C535308] synonym: "deficiency of methylcrotonoyl-Coa carboxylase" RELATED [MESH:C535308] synonym: "MCC 1 deficiency" RELATED [GARD:0005665] synonym: "MCC deficiency" RELATED [MESH:C535308] synonym: "MCC1 deficiency" RELATED [MESH:C535308] -synonym: "Mcc1 deficiency" RELATED [OMIM:210200] -synonym: "MCC1D" RELATED ABBREVIATION [MESH:C535308, MONDO:Lexical, OMIM:210200] +synonym: "Mcc1 deficiency" RELATED [] +synonym: "MCC1D" RELATED ABBREVIATION [MESH:C535308, MONDO:Lexical] synonym: "MCCC1 3-methylcrotonyl-CoA carboxylase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MCCD type 1" RELATED [MESH:C535308] -synonym: "Mccd type 1" RELATED [OMIM:210200] +synonym: "Mccd type 1" RELATED [] synonym: "methylcrotonoyl-CoA carboxylase 1 deficiency" RELATED [MESH:C535308] synonym: "Methylcrotonyl-Coa carboxylase deficiency" RELATED [MESH:C535308] -synonym: "methylcrotonylglycinuria type 1" RELATED [OMIM:210200] +synonym: "methylcrotonylglycinuria type 1" RELATED [] synonym: "methylcrotonylglycinuria type I" RELATED [MESH:C535308] xref: DOID:0080579 {source="MONDO:equivalentTo"} xref: GARD:5665 {source="MONDO:GARD"} @@ -186792,16 +186819,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "3 alpha methylcrotonyl-CoA carboxylase 2 deficiency" RELATED [GARD:0009151] synonym: "3 alpha methylcrotonylglycinuria 2" RELATED [GARD:0009151] -synonym: "3-METHYLCROTONYL-CoA carboxylase 2 deficiency" RELATED [OMIM:210210] -synonym: "3-Methylcrotonyl-CoA carboxylase 2 deficiency" EXACT [MONDO:Lexical, OMIM:210210] +synonym: "3-METHYLCROTONYL-CoA carboxylase 2 deficiency" RELATED [] +synonym: "3-Methylcrotonyl-CoA carboxylase 2 deficiency" EXACT [DOID:0080580, MONDO:Lexical, OMIM:210210] synonym: "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2" EXACT [MONDO:design_pattern] -synonym: "3-methylcrotonylglycinuria 2" RELATED [OMIM:210210] +synonym: "3-methylcrotonylglycinuria 2" RELATED [] synonym: "MCC 2 deficiency" RELATED [GARD:0009151] -synonym: "MCC2 deficiency" RELATED [OMIM:210210] -synonym: "MCC2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:210210] +synonym: "MCC2 deficiency" RELATED [] +synonym: "MCC2D" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MCCC2 3-methylcrotonyl-CoA carboxylase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "methylcrotonylglycinuria type 2" RELATED [GARD:0009151] -synonym: "methylcrotonylglycinuria, type 2" RELATED [OMIM:210210] +synonym: "methylcrotonylglycinuria, type 2" RELATED [] xref: DOID:0080580 {source="MONDO:equivalentTo"} xref: GARD:9151 {source="MONDO:GARD"} xref: MEDGEN:347898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -186825,12 +186852,12 @@ subset: ordo_disorder {source="Orphanet:2882"} subset: orphanet_rare {source="Orphanet:2882"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "macrothrombocytopenia/stomatocytosis, Mediterranean" RELATED [OMIM:210250] -synonym: "phytosterolemia" EXACT [DOID:0090019, OMIM:210250, Orphanet:2882] +synonym: "macrothrombocytopenia/stomatocytosis, Mediterranean" RELATED [] +synonym: "phytosterolemia" EXACT [DOID:0090019, Orphanet:2882] synonym: "plant sterol storage disease" RELATED [GARD:0007653] synonym: "retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body" RELATED [GARD:0007653] -synonym: "sitosterolemia" EXACT CLINGEN_LABEL [OMIM:210250] -synonym: "STSL" RELATED ABBREVIATION [OMIM:210250] +synonym: "sitosterolemia" EXACT CLINGEN_LABEL [NCIT:C125694, OMIMPS:210250, Orphanet:2882] +synonym: "STSL" RELATED ABBREVIATION [] xref: DOID:0090019 {source="MONDO:equivalentTo"} xref: GARD:7653 {source="MONDO:GARD"} xref: ICD10CM:E78.0 {source="Orphanet:2882/attributed", source="Orphanet:2882/ntbt", source="Orphanet:2882", source="DOID:0090019"} @@ -186863,8 +186890,8 @@ subset: orphanet_rare {source="Orphanet:141333"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Biemond syndrome 2" RELATED [GARD:0000882] -synonym: "BIEMOND syndrome II" RELATED [OMIM:210350] -synonym: "Biemond syndrome type 2" EXACT [MONDORULE:1, OMIM:210350] +synonym: "BIEMOND syndrome II" RELATED [] +synonym: "Biemond syndrome type 2" EXACT [MONDORULE:1, Orphanet:141333] synonym: "BS2" RELATED ABBREVIATION [GARD:0000882] synonym: "hypogonadism-short stature-coloboma-preaxial polydactyly syndrome" EXACT [Orphanet:141333] synonym: "iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly" RELATED [GARD:0000882] @@ -186892,11 +186919,11 @@ subset: ordo_disorder {source="Orphanet:41751"} subset: orphanet_rare {source="Orphanet:41751"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:210370, Orphanet:41751] -synonym: "Bietti crystalline corneoretinal dystrophy" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:210370, Orphanet:41751] -synonym: "Bietti crystalline dystrophy" RELATED [OMIM:210370] +synonym: "BCD" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C179299, OMIM:210370, Orphanet:41751] +synonym: "Bietti crystalline corneoretinal dystrophy" EXACT CLINGEN_LABEL [DOID:0050664, MONDO:Lexical, NCIT:C179299, OMIM:210370, Orphanet:41751] +synonym: "Bietti crystalline dystrophy" RELATED [] synonym: "Bietti crystalline retinopathy" EXACT [Orphanet:41751] -synonym: "Bietti tapetoretinal Degeneration with marginal corneal dystrophy" RELATED [OMIM:210370] +synonym: "Bietti tapetoretinal Degeneration with marginal corneal dystrophy" RELATED [] synonym: "Bietti's crystalline dystrophy" EXACT [DOID:0050664] xref: DOID:0050664 {source="MONDO:equivalentTo"} xref: GARD:10050 {source="MONDO:GARD"} @@ -186923,8 +186950,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive bifid nose" EXACT [MONDO:design_pattern] synonym: "bifid nose, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:210400] -synonym: "median fissure of Nose" RELATED [OMIM:210400] -synonym: "Nose, Median cleft of" RELATED [OMIM:210400] +synonym: "median fissure of Nose" RELATED [] +synonym: "Nose, Median cleft of" RELATED [] xref: GARD:15142 {source="MONDO:GARD"} xref: MEDGEN:854359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:210400 {source="MONDO:equivalentTo"} @@ -186946,11 +186973,11 @@ subset: orphanet_rare {source="Orphanet:30391"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atresia of bile duct" EXACT [DOID:13608] -synonym: "atresia of bile ducts" EXACT [Orphanet:30391] +synonym: "atresia of bile ducts" EXACT [icd11.foundation:645741117] synonym: "biliary atresia, congenital" EXACT [DOID:13608, ICD9CM:751.61] -synonym: "congenital biliary atresia" EXACT [NCIT:C34421] +synonym: "congenital biliary atresia" EXACT [DOID:13608, icd11.foundation:645741117, NCIT:C34421] synonym: "isolated atresia of bile ducts" EXACT [Orphanet:30391] -synonym: "isolated biliary atresia" RELATED [Orphanet:30391] +synonym: "isolated biliary atresia" RELATED [] synonym: "non-syndromic biliary atresia" EXACT [Orphanet:30391] xref: DOID:13608 {source="MONDO:equivalentTo"} xref: GARD:12010 {source="MONDO:GARD"} @@ -186979,7 +187006,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12010/biliar id: MONDO:0008868 name: biliary malformation with renal tubular insufficiency synonym: "biliary malformation with renal tubular insufficiency" EXACT [OMIM:210550] -synonym: "cholestatic jaundice and renal tubular insufficiency" RELATED [OMIM:210550] +synonym: "cholestatic jaundice and renal tubular insufficiency" RELATED [] xref: MEDGEN:98009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537726 {source="MONDO:equivalentTo"} xref: OMIM:210550 {source="MONDO:equivalentTo"} @@ -186996,17 +187023,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ATR Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Bird-headed dwarfism" RELATED [OMIM:210600] -synonym: "microcephalic primordial dwarfism 1" RELATED [OMIM:210600] +synonym: "Bird-headed dwarfism" RELATED [] +synonym: "microcephalic primordial dwarfism 1" RELATED [] synonym: "microcephalic primordial dwarfism I" EXACT [DOID:0070007] -synonym: "nanocephalic dwarfism" RELATED [OMIM:210600] -synonym: "Sckl" RELATED [OMIM:210600] +synonym: "nanocephalic dwarfism" RELATED [] +synonym: "Sckl" RELATED [] synonym: "SCKL1" EXACT ABBREVIATION [DOID:0070007, MONDO:Lexical, OMIM:210600] -synonym: "Seckel syndrome 1" EXACT [MONDO:Lexical, OMIM:210600] -synonym: "Seckel syndrome 3" EXACT [OMIM:210600] +synonym: "Seckel syndrome 1" EXACT [DOID:0070007, MONDO:Lexical, OMIM:210600] +synonym: "Seckel syndrome 3" EXACT [] synonym: "Seckel syndrome caused by mutation in ATR" EXACT [MONDO:design_pattern] -synonym: "Seckel syndrome type 1" EXACT [MONDORULE:1, OMIM:210600] -synonym: "Seckel-type dwarfism" RELATED [OMIM:210600] +synonym: "Seckel syndrome type 1" EXACT [MONDORULE:1] +synonym: "Seckel-type dwarfism" RELATED [] xref: DOID:0070007 {source="MONDO:equivalentTo"} xref: GARD:15143 {source="MONDO:GARD"} xref: MEDGEN:1637056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -187031,8 +187058,8 @@ subset: orphanet_rare {source="Orphanet:2617"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bird-headed dwarfism with features of premature senility" RELATED [GARD:0000895] -synonym: "Bird-headed dwarfism, Montreal type" RELATED [OMIM:210700] -synonym: "microcephalic primordial dwarfism, Montreal type" RELATED [OMIM:210700] +synonym: "Bird-headed dwarfism, Montreal type" RELATED [] +synonym: "microcephalic primordial dwarfism, Montreal type" RELATED [] synonym: "premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms" RELATED [GARD:0000895] synonym: "premature senility, premature greying and loss of scalp hair and wrinkled skin of the palms" RELATED OMO:0003005 [] xref: GARD:895 {source="MONDO:GARD"} @@ -187059,7 +187086,7 @@ synonym: "brachymelic primordial dwarfism" EXACT [DOID:0060608, OMIM:210710] synonym: "cephaloskeletal dysplasia" EXACT [DOID:0060608, OMIM:210710] synonym: "low-birth-weight dwarfism with skeletal dysplasia" EXACT [DOID:0060608, OMIM:210710] synonym: "microcephalic osteodysplastic primordial dwarfism, type 1" EXACT [OMIM:210710] -synonym: "microcephalic osteodysplastic primordial dwarfism, type I" EXACT [MONDO:Lexical, OMIM:210710] +synonym: "microcephalic osteodysplastic primordial dwarfism, type I" EXACT [MONDO:Lexical] synonym: "MOPD 1" EXACT [OMIM:210710] synonym: "MOPD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:210710] synonym: "osteodysplastic primordial dwarfism type I" EXACT [DOID:0060608] @@ -187098,15 +187125,15 @@ subset: rare synonym: "Majewski osteodysplastic primordial dwarfism type II" EXACT [DOID:0060609, Orphanet:2637] synonym: "microcephalic osteodysplastic primordial dwarfism type 2" RELATED [GARD:0009844] synonym: "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities" RELATED [GARD:0009844] -synonym: "microcephalic osteodysplastic primordial dwarfism, type 2" RELATED [OMIM:210720] -synonym: "microcephalic osteodysplastic primordial dwarfism, type II" RELATED [MONDO:Lexical, OMIM:210720] -synonym: "Mopd 2" RELATED [OMIM:210720] +synonym: "microcephalic osteodysplastic primordial dwarfism, type 2" RELATED [] +synonym: "microcephalic osteodysplastic primordial dwarfism, type II" RELATED [MONDO:Lexical] +synonym: "Mopd 2" RELATED [] synonym: "MOPD II" RELATED [GARD:0009844] synonym: "MOPD type II" EXACT [Orphanet:2637] -synonym: "MOPD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:210720] +synonym: "MOPD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "osteodysplastic primordial dwarfism type 2" RELATED [GARD:0009844] synonym: "osteodysplastic primordial dwarfism type II" EXACT [DOID:0060609] -synonym: "osteodysplastic primordial dwarfism, type 2" RELATED [OMIM:210720] +synonym: "osteodysplastic primordial dwarfism, type 2" RELATED [] xref: DOID:0060609 {source="MONDO:equivalentTo"} xref: GARD:9844 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="DOID:0060609", source="Orphanet:2637/attributed", source="Orphanet:2637/ntbt", source="Orphanet:2637"} @@ -187129,13 +187156,13 @@ name: microcephalic osteodysplastic primordial dwarfism, type 3 subset: gard_rare {source="GARD:15145", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type" RELATED [OMIM:210730] -synonym: "microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type" RELATED [OMIM:210730] -synonym: "microcephalic osteodysplastic primordial dwarfism, type III" RELATED [OMIM:210730] -synonym: "Mopd 3" RELATED [OMIM:210730] -synonym: "Mopd, Caroline Crachami type" RELATED [OMIM:210730] -synonym: "Mopd, Sicilian fairy type" RELATED [OMIM:210730] -synonym: "osteodysplastic primordial dwarfism, type 3" RELATED [OMIM:210730] +synonym: "microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type" RELATED [] +synonym: "microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type" RELATED [] +synonym: "microcephalic osteodysplastic primordial dwarfism, type III" RELATED [] +synonym: "Mopd 3" RELATED [] +synonym: "Mopd, Caroline Crachami type" RELATED [] +synonym: "Mopd, Sicilian fairy type" RELATED [] +synonym: "osteodysplastic primordial dwarfism, type 3" RELATED [] xref: GARD:15145 {source="MONDO:GARD"} xref: MEDGEN:349167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537320 {source="MONDO:equivalentTo"} @@ -187156,9 +187183,9 @@ subset: orphanet_rare {source="Orphanet:1227"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ataxia-diabetes-goiter-gonadal insufficiency syndrome" EXACT [Orphanet:1227] -synonym: "Bangstad syndrome" EXACT [OMIM:210740] +synonym: "Bangstad syndrome" EXACT [OMIM:210740, Orphanet:1227] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency" RELATED [GARD:0000812] -synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency" RELATED [OMIM:210740] +synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency" RELATED [] synonym: "Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre and primary gonadal insufficiency" RELATED OMO:0003005 [] xref: GARD:812 {source="MONDO:GARD"} xref: ICD10CM:E31.8 {source="Orphanet:1227", source="Orphanet:1227/attributed", source="Orphanet:1227/ntbt"} @@ -187185,7 +187212,7 @@ subset: orphanet_rare {source="Orphanet:2057"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "blepharophimosis - ptosis - esotropia - syndactyly - short stature" RELATED [GARD:0000905] -synonym: "blepharophimosis with ptosis, syndactyly, and short stature" RELATED [OMIM:210745] +synonym: "blepharophimosis with ptosis, syndactyly, and short stature" RELATED [] synonym: "Frydman Cohen Karmon syndrome" RELATED [GARD:0000905] synonym: "Frydman-Cohen-Karmon syndrome" EXACT [Orphanet:2057] xref: GARD:905 {source="MONDO:GARD"} @@ -187211,17 +187238,17 @@ subset: ordo_disorder {source="Orphanet:125"} subset: orphanet_rare {source="Orphanet:125"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BLM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:210900] -synonym: "Bloom syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:210900] -synonym: "Bloom-Torre-Machacek syndrome" EXACT [DOID:2717] +synonym: "BLM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Bloom syndrome" EXACT CLINGEN_LABEL [DOID:2717, icd11.foundation:1838213890, MONDO:Lexical, NCIT:C2903, OMIM:210900, Orphanet:125] +synonym: "Bloom-Torre-Machacek syndrome" EXACT [DOID:2717, icd11.foundation:1838213890] synonym: "BLS" RELATED ABBREVIATION [GARD:0000915] -synonym: "BS" RELATED ABBREVIATION [OMIM:210900] +synonym: "BS" RELATED ABBREVIATION [] synonym: "BSyn" EXACT [Orphanet:125] synonym: "congenital telangiectatic erythema" RELATED [GARD:0000915] synonym: "congenital telangiectatic erythema syndrome" EXACT [DOID:2717, NCIT:C2903] synonym: "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability" RELATED [GARD:0000915] synonym: "MGRISCE1" RELATED ABBREVIATION [https://orcid.org/0000-0002-6601-2165] -synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 1" RELATED [OMIM:210900] +synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 1" RELATED [] xref: DOID:2717 {source="MONDO:equivalentTo"} xref: GARD:915 {source="MONDO:GARD"} xref: ICD10CM:Q82.2 {source="Orphanet:125", source="Orphanet:125/index", source="Orphanet:125/ntbt", source="MONDO:directSiblingOf"} @@ -187261,10 +187288,10 @@ subset: ordo_disorder {source="Orphanet:94086"} subset: orphanet_rare {source="Orphanet:94086"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "blue diaper syndrome" EXACT [OMIM:211000] -synonym: "Drummond syndrome" EXACT [Orphanet:94086] +synonym: "blue diaper syndrome" EXACT [icd11.foundation:292681007, OMIM:211000, Orphanet:94086] +synonym: "Drummond syndrome" EXACT [icd11.foundation:292681007, Orphanet:94086] synonym: "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome" EXACT [Orphanet:94086] -synonym: "hypercalcemia, familial, with nephrocalcinosis and indicanuria" RELATED [OMIM:211000] +synonym: "hypercalcemia, familial, with nephrocalcinosis and indicanuria" RELATED [] xref: GARD:5939 {source="MONDO:GARD"} xref: ICD10CM:E70.8 {source="Orphanet:94086/ntbt", source="Orphanet:94086/inclusion", source="Orphanet:94086"} xref: icd11.foundation:292681007 {source="MONDO:equivalentTo"} @@ -187292,7 +187319,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type" EXACT [Orphanet:1842] synonym: "bone dysplasia lethal Holmgren type" RELATED [GARD:0000922] -synonym: "bone dysplasia, lethal, Holmgren type" RELATED [OMIM:211120] +synonym: "bone dysplasia, lethal, Holmgren type" RELATED [] xref: GARD:922 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:1842", source="Orphanet:1842/attributed", source="Orphanet:1842/ntbt"} xref: MEDGEN:347872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -187319,14 +187346,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:1270"} subset: orphanet_rare {source="Orphanet:1270"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bowen Hutterite Syndrome" EXACT [NORD:869] -synonym: "Bowen Hutterite syndrome" EXACT [OMIM:211180] +synonym: "Bowen Hutterite Syndrome" EXACT [DOID:0050684, NORD:869] +synonym: "Bowen Hutterite syndrome" EXACT [DOID:0050684] synonym: "Bowen Hutterite syndrome (formerly)" EXACT [GARD:0005950] synonym: "Bowen Hutterite syndrome, formerly" EXACT [OMIM:211180] synonym: "Bowen syndrome, Hutterite type" EXACT [Orphanet:1270] -synonym: "Bowen-Conradi Hutterite syndrome" EXACT [GARD:0005950] -synonym: "Bowen-Conradi syndrome" EXACT [MONDO:Lexical, OMIM:211180] -synonym: "BWCNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:211180] +synonym: "Bowen-Conradi Hutterite syndrome" EXACT [DOID:0050684, GARD:0005950] +synonym: "Bowen-Conradi syndrome" EXACT [DOID:0050684, icd11.foundation:1713786719, MONDO:Lexical, OMIM:211180, Orphanet:1270] +synonym: "BWCNS" EXACT ABBREVIATION [DOID:0050684, MONDO:Lexical, OMIM:211180] xref: DOID:0050684 {source="MONDO:equivalentTo"} xref: GARD:5950 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1270/attributed", source="Orphanet:1270/ntbt", source="Orphanet:1270"} @@ -187350,7 +187377,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5950/bowen-c [Term] id: MONDO:0008880 name: Bowen syndrome of multiple malformations -synonym: "Bowen syndrome" EXACT [Orphanet:1271] +synonym: "Bowen syndrome" EXACT [] synonym: "Bowen syndrome of multiple malformations" EXACT [OMIM:211200] xref: MEDGEN:349159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538164 {source="MONDO:equivalentTo"} @@ -187370,9 +187397,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1801"} subset: orphanet_rare {source="Orphanet:1801"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bowing, congenital, with short bones" RELATED [OMIM:211350] +synonym: "bowing, congenital, with short bones" RELATED [] synonym: "congenital bowing with short bones" RELATED [GARD:0010149] -synonym: "kyphomelic dysplasia" EXACT [OMIM:211350] +synonym: "kyphomelic dysplasia" EXACT [icd11.foundation:268821879, OMIM:211350, Orphanet:1801] xref: GARD:10149 {source="MONDO:GARD"} xref: icd11.foundation:268821879 {source="MONDO:equivalentTo"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -187395,7 +187422,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:2292"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bowing of long bones congenital" RELATED [GARD:0000953] -synonym: "bowing of long bones, asymmetric and symmetric" RELATED [OMIM:211355] +synonym: "bowing of long bones, asymmetric and symmetric" RELATED [] xref: GARD:953 {source="MONDO:GARD"} xref: ICD10CM:Q68.3 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} xref: ICD10CM:Q68.4 {source="Orphanet:2292/specific", source="Orphanet:2292", source="Orphanet:2292/btnt"} @@ -187434,7 +187461,7 @@ subset: rare synonym: "anodontia-hypotrichosis syndrome" EXACT [OMIM:211370] synonym: "brachymetapody anodontia hypotrichosis albinoidism" EXACT [MONDO:0022605] synonym: "BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM" EXACT [OMIM:211370] -synonym: "oculoosteocutaneous syndrome" EXACT [OMIM:211370] +synonym: "oculoosteocutaneous syndrome" EXACT [OMIM:211370, Orphanet:2713] xref: GARD:992 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:2713", source="Orphanet:2713/attributed", source="Orphanet:2713/ntbt"} xref: MEDGEN:347867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -187462,12 +187489,12 @@ subset: rare synonym: "brachioskeletogenital syndrome" EXACT [OMIM:211380] synonym: "branchio-skeleto-genital syndrome" RELATED [GARD:0000955] synonym: "BSG syndrome" EXACT [OMIM:211380, Orphanet:1299] -synonym: "ELSAHY-Waters syndrome" EXACT [OMIM:211380] -synonym: "Elsahy-Waters syndrome" EXACT [Orphanet:1299] +synonym: "ELSAHY-Waters syndrome" EXACT [DOID:0080631, OMIM:211380, Orphanet:1299] +synonym: "Elsahy-Waters syndrome" EXACT [DOID:0080631, OMIM:211380, Orphanet:1299] synonym: "ESWS" EXACT ABBREVIATION [OMIM:211380] -synonym: "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss" EXACT [MONDO:0011324] -synonym: "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" EXACT [OMIM:603463] -synonym: "hypospadias-hypertelorism-coloboma and deafness syndrome" EXACT [Orphanet:157788] +synonym: "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss" EXACT [MONDO:0011324, OMIM:211380] +synonym: "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" EXACT [] +synonym: "hypospadias-hypertelorism-coloboma and deafness syndrome" EXACT [] xref: DOID:0080631 {source="MONDO:equivalentTo"} xref: GARD:955 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1299", source="Orphanet:1299/attributed", source="Orphanet:1299/ntbt"} @@ -187491,9 +187518,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008886 name: Sabinas brittle hair syndrome -synonym: "brittle hair and mental Deficit" RELATED [OMIM:211390] -synonym: "brittle hair syndrome, Sabinas type" EXACT [Orphanet:3123] -synonym: "Sabinas brittle hair syndrome" EXACT [OMIM:211390] +synonym: "brittle hair and mental Deficit" RELATED [] +synonym: "brittle hair syndrome, Sabinas type" EXACT [] +synonym: "Sabinas brittle hair syndrome" EXACT [DOID:0111874, icd11.foundation:1722502589, OMIM:211390] synonym: "Sabinas syndrome" RELATED [GARD:0000313] xref: DOID:0111874 {source="MONDO:equivalentTo"} xref: icd11.foundation:1722502589 {source="MONDO:equivalentTo"} @@ -187512,11 +187539,11 @@ subset: gard_rare {source="GARD:18054", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BESC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211400] +synonym: "BESC1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "bronchiectasis with or without elevated sweat chloride 1" EXACT [MONDO:Lexical, OMIM:211400] -synonym: "bronchiectasis with or without elevated sweat chloride 1, modifier of" EXACT [OMIM:211400, OMIM:genemap2] -synonym: "bronchiectasis with or without elevated sweat chloride type 1" EXACT [MONDORULE:1, OMIM:211400] -synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:211400] +synonym: "bronchiectasis with or without elevated sweat chloride 1, modifier of" EXACT [] +synonym: "bronchiectasis with or without elevated sweat chloride type 1" EXACT [MONDORULE:1] +synonym: "cystic fibrosis-like syndrome" RELATED [] xref: DOID:0080526 {source="MONDO:equivalentTo"} xref: GARD:18054 {source="MONDO:GARD"} xref: MEDGEN:440868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -187537,8 +187564,8 @@ subset: ordo_disorder {source="Orphanet:411501"} subset: ordo_morphological_anomaly {source="Orphanet:411501"} subset: orphanet_rare {source="Orphanet:411501"} subset: rare -synonym: "BRONCHOMALACIA" RELATED ABBREVIATION [OMIM:211450] -synonym: "Williams-Campbell syndrome" EXACT [OMIM:211450] +synonym: "BRONCHOMALACIA" RELATED ABBREVIATION [] +synonym: "Williams-Campbell syndrome" EXACT [icd11.foundation:766574679, OMIM:211450, Orphanet:411501] xref: GARD:21731 {source="MONDO:GARD"} xref: ICD10CM:Q33.4 {source="Orphanet:411501/ntbt", source="Orphanet:411501"} xref: icd11.foundation:766574679 {source="MONDO:equivalentTo"} @@ -187563,15 +187590,15 @@ subset: ordo_disorder {source="Orphanet:36258"} subset: orphanet_rare {source="Orphanet:36258"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BUERGER disease" RELATED [OMIM:211480] -synonym: "Buerger's Disease" EXACT [NORD:880] +synonym: "BUERGER disease" RELATED [] +synonym: "Buerger's Disease" EXACT [DOID:12918, NCIT:C35070, NORD:880] synonym: "Buerger's disease" EXACT [DOID:12918, NCIT:C35070] synonym: "inflammatory occlusive peripheral vascular disease" RELATED [GARD:0005969] synonym: "occlusive peripheral vascular disease" RELATED [GARD:0005969] synonym: "presenile gangrene" EXACT [DOID:12918] synonym: "TAO" RELATED ABBREVIATION [GARD:0005969] -synonym: "thromboangiitis obliterans" EXACT [DOID:12918, OMIM:211480, Orphanet:36258] -synonym: "thromboangiitis obliterans [Buerger's disease]" EXACT [DOID:12918, ICD9CM:443.1] +synonym: "thromboangiitis obliterans" EXACT [DOID:12918, icd11.foundation:1000683110, NCIT:C35070, OMIM:211480, Orphanet:36258] +synonym: "thromboangiitis obliterans [Buerger's disease]" EXACT [ICD9CM:443.1] xref: DOID:12918 {source="EFO:1001211", source="MONDO:equivalentTo"} xref: EFO:1001211 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5969 {source="MONDO:GARD"} @@ -187605,8 +187632,8 @@ subset: gard_rare {source="GARD:10928", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bulbar palsy, progressive, of childhood" NARROW [OMIM:211500] -synonym: "Fazio-Londe disease" NARROW [OMIM:211500] +synonym: "bulbar palsy, progressive, of childhood" NARROW [] +synonym: "Fazio-Londe disease" NARROW [] synonym: "progressive bulbar atrophy" RELATED [GARD:0010928] xref: DOID:681 {source="EFO:0003783", source="MONDO:equivalentTo"} xref: EFO:0003783 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -187640,16 +187667,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:97229"} subset: orphanet_rare {source="Orphanet:97229"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Brown-Vialetto-van Laere syndrome" EXACT [Orphanet:97229] -synonym: "Brown-Vialetto-Van Laere syndrome 1" NARROW [MONDO:Lexical, OMIM:211530] +synonym: "Brown-Vialetto-van Laere syndrome" EXACT [DOID:0050694, OMIMPS:211530, Orphanet:97229] +synonym: "Brown-Vialetto-Van Laere syndrome 1" NARROW [MONDO:Lexical] synonym: "BVVLS" RELATED ABBREVIATION [GARD:0009993] -synonym: "BVVLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211530] +synonym: "BVVLS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "disorder of riboflavin transmembrane transporter activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "Fazio-Londe syndrome" EXACT [PMID:29473049] synonym: "pontobulbar palsy and neurosensory deafness" RELATED [GARD:0009993] synonym: "progressive bulbar palsy with sensorineural deafness" RELATED [GARD:0009993] synonym: "riboflavin transmembrane transporter activity disease" EXACT [MONDO:design_pattern] -synonym: "sensorineural hearing loss-pontobulbar palsy syndrome" EXACT [Orphanet:97229] +synonym: "sensorineural hearing loss-pontobulbar palsy syndrome" EXACT [] xref: DOID:0050694 {source="MONDO:equivalentTo"} xref: GARD:9993 {source="MONDO:GARD"} xref: ICD10CM:G12.1 {source="Orphanet:97229", source="Orphanet:97229/attributed", source="Orphanet:97229/ntbt"} @@ -187679,14 +187706,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79306"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Byler disease" EXACT [Orphanet:79306] +synonym: "Byler disease" EXACT [OMIM:211600, Orphanet:79306] synonym: "Byler's disease" RELATED [GARD:0009802] synonym: "cholestasis, fatal intrahepatic" RELATED [GARD:0009802] -synonym: "cholestasis, progressive familial intrahepatic 1" EXACT [OMIM:211600, OMIM:genemap2] -synonym: "cholestasis, progressive familial intrahepatic, 1" RELATED [MONDO:Lexical, OMIM:211600] -synonym: "cholestasis, progressive familial intrahepatic, type 1" EXACT [MONDORULE:1, OMIM:211600] -synonym: "FIC1 deficiency" EXACT [Orphanet:79306] -synonym: "PFIC1" EXACT ABBREVIATION [GARD:0009802, MONDO:Lexical, OMIM:211600, Orphanet:79306] +synonym: "cholestasis, progressive familial intrahepatic 1" EXACT [] +synonym: "cholestasis, progressive familial intrahepatic, 1" RELATED [MONDO:Lexical] +synonym: "cholestasis, progressive familial intrahepatic, type 1" EXACT [MONDORULE:1] +synonym: "FIC1 deficiency" EXACT [DOID:0070226, Orphanet:79306] +synonym: "PFIC1" EXACT ABBREVIATION [DOID:0070226, GARD:0009802, MONDO:Lexical, OMIM:211600, Orphanet:79306] synonym: "progressive familial intrahepatic cholestasis" RELATED [GARD:0009802] synonym: "severe ATP8B1 deficiency" RELATED [GARD:0009802] xref: DOID:0070226 {source="MONDO:equivalentTo"} @@ -187715,13 +187742,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:1308"} subset: orphanet_rare {source="Orphanet:1308"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "C syndrome" EXACT [OMIM:211750] -synonym: "Opitz C trigonocephaly" EXACT [Orphanet:1308] -synonym: "Opitz trigonocephaly C syndrome" EXACT [Orphanet:1308] -synonym: "Opitz trigonocephaly syndrome" EXACT [OMIM:211750, Orphanet:1308] -synonym: "OTCS" EXACT ABBREVIATION [Orphanet:1308] -synonym: "trigonocephaly C syndrome" EXACT [Orphanet:1308] -synonym: "trigonocephaly syndrome" RELATED [OMIM:211750] +synonym: "C syndrome" EXACT [DOID:0111581, icd11.foundation:1482041278, OMIM:211750, Orphanet:1308] +synonym: "Opitz C trigonocephaly" EXACT [DOID:0111581, Orphanet:1308] +synonym: "Opitz trigonocephaly C syndrome" EXACT [DOID:0111581, Orphanet:1308] +synonym: "Opitz trigonocephaly syndrome" EXACT [DOID:0111581, icd11.foundation:1482041278, OMIM:211750, Orphanet:1308] +synonym: "OTCS" EXACT ABBREVIATION [DOID:0111581, Orphanet:1308] +synonym: "trigonocephaly C syndrome" EXACT [DOID:0111581, Orphanet:1308] +synonym: "trigonocephaly syndrome" RELATED [] xref: DOID:0111581 {source="MONDO:equivalentTo"} xref: GARD:5978 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1308/attributed", source="Orphanet:1308/ntbt", source="Orphanet:1308"} @@ -187753,8 +187780,8 @@ subset: orphanet_rare {source="Orphanet:1375"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CAHMR syndrome" EXACT [OMIM:211770, Orphanet:1375] -synonym: "cataract, hypertrichosis, intellectual disability syndrome" RELATED [OMIM:211770] -synonym: "cataract, hypertrichosis, mental retardation syndrome" RELATED DEPRECATED [OMIM:211770] +synonym: "cataract, hypertrichosis, intellectual disability syndrome" RELATED [] +synonym: "cataract, hypertrichosis, mental retardation syndrome" RELATED DEPRECATED [] xref: GARD:1052 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1375/attributed", source="Orphanet:1375/ntbt", source="Orphanet:1375"} xref: MEDGEN:167117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -187781,9 +187808,9 @@ subset: rare synonym: "ACDC" RELATED ABBREVIATION [GARD:0010762] synonym: "arterial calcification and distal joint calcification" RELATED [GARD:0010762] synonym: "arterial calcification due to CD73 deficiency" RELATED [GARD:0010762] -synonym: "arterial calcification due to deficiency of Cd73" RELATED [OMIM:211800] -synonym: "calcification of joints and arteries" EXACT [MONDO:Lexical, OMIM:211800, Orphanet:289601] -synonym: "CALJA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:211800, Orphanet:289601] +synonym: "arterial calcification due to deficiency of Cd73" RELATED [] +synonym: "calcification of joints and arteries" EXACT [DOID:0111582, MONDO:Lexical, OMIM:211800, Orphanet:289601] +synonym: "CALJA" EXACT ABBREVIATION [DOID:0111582, MONDO:Lexical, OMIM:211800, Orphanet:289601] xref: DOID:0111582 {source="MONDO:equivalentTo"} xref: GARD:10762 {source="MONDO:GARD"} xref: MEDGEN:347132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -187808,9 +187835,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "campomelia Cumming type" RELATED [GARD:0001061] synonym: "campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys" RELATED [GARD:0001061] -synonym: "campomelia, Cumming type" EXACT [OMIM:211890] -synonym: "cervical lymphocele with bowed long bones" RELATED [OMIM:211890] -synonym: "Cumming syndrome" RELATED [OMIM:211890] +synonym: "campomelia, Cumming type" EXACT [icd11.foundation:152223075, OMIM:211890, Orphanet:1318] +synonym: "cervical lymphocele with bowed long bones" RELATED [] +synonym: "Cumming syndrome" RELATED [] xref: GARD:1061 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1318", source="Orphanet:1318/attributed", source="Orphanet:1318/ntbt"} xref: icd11.foundation:152223075 {source="MONDO:equivalentTo"} @@ -187847,12 +187874,12 @@ subset: orphanet_rare {source="Orphanet:1327"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "camptodactyly syndrome Guadalajara type 1" RELATED [GARD:0001067] -synonym: "camptodactyly syndrome, Guadalajara, type 1" RELATED [OMIM:211910] -synonym: "camptodactyly syndrome, Guadalajara, type I" RELATED [MONDO:Lexical, OMIM:211910] -synonym: "faciothoracoskeletal syndrome" RELATED [OMIM:211910] +synonym: "camptodactyly syndrome, Guadalajara, type 1" RELATED [] +synonym: "camptodactyly syndrome, Guadalajara, type I" RELATED [MONDO:Lexical] +synonym: "faciothoracoskeletal syndrome" RELATED [] synonym: "FTSS" RELATED ABBREVIATION [GARD:0001067] synonym: "GCS 1" RELATED [GARD:0001067] -synonym: "GCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:211910] +synonym: "GCS1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:1067 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:1327", source="Orphanet:1327/attributed", source="Orphanet:1327/ntbt"} xref: MEDGEN:395241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -187878,8 +187905,8 @@ subset: orphanet_rare {source="Orphanet:1326"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "camptodactyly syndrome Guadalajara type 2" RELATED [GARD:0001068] -synonym: "camptodactyly syndrome, Guadalajara, type 2" RELATED [OMIM:211920] -synonym: "camptodactyly syndrome, Guadalajara, type II" RELATED [OMIM:211920] +synonym: "camptodactyly syndrome, Guadalajara, type 2" RELATED [] +synonym: "camptodactyly syndrome, Guadalajara, type II" RELATED [] synonym: "Guadalajara camptodactyly syndrome type II" RELATED [GARD:0001068] xref: GARD:1068 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:1326", source="Orphanet:1326/attributed", source="Orphanet:1326/ntbt"} @@ -187933,8 +187960,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:3292"} subset: orphanet_rare {source="Orphanet:3292"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases" RELATED [OMIM:211960] -synonym: "Tel Hashomer camptodactyly syndrome" EXACT [OMIM:211960] +synonym: "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases" RELATED [] +synonym: "Tel Hashomer camptodactyly syndrome" EXACT [OMIM:211960, Orphanet:3292] xref: GARD:5128 {source="MONDO:GARD"} xref: ICD10CM:Q74.0 {source="Orphanet:3292/attributed", source="Orphanet:3292/ntbt", source="Orphanet:3292"} xref: MEDGEN:347860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -187963,18 +187990,18 @@ id: MONDO:0008903 name: lung cancer def: "A malignant neoplasm involving the lung." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] -synonym: "adenocarcinoma of lung, somatic" EXACT [OMIM:211980, OMIM:genemap2] -synonym: "alveolar cell carcinoma" RELATED [OMIM:211980] +synonym: "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation" EXACT [] +synonym: "adenocarcinoma of lung, somatic" EXACT [] +synonym: "alveolar cell carcinoma" RELATED [] synonym: "cancer of lung" EXACT [MONDO:patterns/cancer] -synonym: "lung cancer" EXACT [MONDO:patterns/location] -synonym: "lung cancer, protection against" RELATED [OMIM:211980] -synonym: "lung cancer, protection against, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] -synonym: "lung cancer, resistance to, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] -synonym: "lung cancer, somatic" EXACT [OMIM:211980, OMIM:genemap2] -synonym: "lung cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] +synonym: "lung cancer" EXACT [DOID:1324, MONDO:patterns/location, OMIM:211980] +synonym: "lung cancer, protection against" RELATED [] +synonym: "lung cancer, protection against, autosomal dominant, somatic mutation" EXACT [] +synonym: "lung cancer, resistance to, autosomal dominant, somatic mutation" EXACT [] +synonym: "lung cancer, somatic" EXACT [] +synonym: "lung cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [] synonym: "lung neoplasm" RELATED [DOID:1324] -synonym: "malignant lung neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "malignant lung neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7377] synonym: "malignant lung tumor" EXACT [NCIT:C7377] synonym: "malignant lung tumour" EXACT OMO:0003005 [] synonym: "malignant neoplasm of lung" EXACT [MONDO:patterns/cancer, NCIT:C7377] @@ -187983,10 +188010,10 @@ synonym: "malignant tumor of lung" EXACT [NCIT:C7377] synonym: "malignant tumor of the lung" EXACT [NCIT:C7377] synonym: "malignant tumour of lung" EXACT OMO:0003005 [] synonym: "malignant tumour of the lung" EXACT OMO:0003005 [] -synonym: "Nonsmall cell lung cancer" RELATED [OMIM:211980] -synonym: "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] -synonym: "nonsmall cell lung cancer, somatic" EXACT [OMIM:211980, OMIM:genemap2] -synonym: "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:211980, OMIM:genemap2] +synonym: "Nonsmall cell lung cancer" RELATED [] +synonym: "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation" EXACT [] +synonym: "nonsmall cell lung cancer, somatic" EXACT [] +synonym: "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [] xref: DOID:1324 {source="MONDO:equivalentTo"} xref: ICD10CM:C34.1 {source="DOID:1324"} xref: ICD10CM:C34.2 {source="DOID:1324"} @@ -188024,7 +188051,7 @@ name: camptomelic syndrome, long-limb type subset: gard_rare {source="GARD:1071", source="MONDO:GARD"} subset: rare synonym: "campomelic syndrome long limb type" RELATED [GARD:0001071] -synonym: "campomelic syndrome, long-limb type" RELATED [OMIM:211990] +synonym: "campomelic syndrome, long-limb type" RELATED [] synonym: "Camptomelic syndrome long limb type" RELATED [GARD:0001071] synonym: "camptomelic syndrome, long-limb type" EXACT [OMIM:211990] xref: GARD:1071 {source="MONDO:GARD"} @@ -188044,14 +188071,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:457088"} subset: orphanet_rare {source="Orphanet:457088"} subset: rare -synonym: "CANDF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212050] +synonym: "CANDF2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "candidiasis familial chronic mucocutaneous, autosomal recessive" RELATED [GARD:0001077] -synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED [OMIM:212050] -synonym: "candidiasis, familial, 2" RELATED [MONDO:Lexical, OMIM:212050] -synonym: "candidiasis, familial, 2, autosomal recessive" EXACT [OMIM:212050, OMIM:genemap2] -synonym: "candidiasis, familial, type 2" EXACT [MONDORULE:1, OMIM:212050] +synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED [] +synonym: "candidiasis, familial, 2" RELATED [MONDO:Lexical] +synonym: "candidiasis, familial, 2, autosomal recessive" EXACT [] +synonym: "candidiasis, familial, type 2" EXACT [MONDORULE:1] synonym: "CARD9 deficiency" RELATED [GARD:0001077] -synonym: "CARD9 immunodeficiency" RELATED [OMIM:212050] +synonym: "CARD9 immunodeficiency" RELATED [] synonym: "invasive candidiasis-deep dermatophytosis syndrome" EXACT [Orphanet:457088] xref: ICD10CM:D84.8 {source="Orphanet:457088/attributed", source="Orphanet:457088/ntbt", source="Orphanet:457088"} xref: MEDGEN:347128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -188067,7 +188094,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0008906 name: obsolete carbimazole sensitivity -synonym: "carbimazole sensitivity" EXACT [OMIM:212060] +synonym: "carbimazole sensitivity" EXACT [] xref: OMIM:212060 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -188084,20 +188111,20 @@ subset: rare synonym: "carbohydrate deficient glycoprotein syndrome type Ia" EXACT [Orphanet:79318] synonym: "carbohydrate-deficient glycoprotein syndrome type 1A" RELATED [GARD:0009826] synonym: "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)" RELATED [GARD:0009826] -synonym: "carbohydrate-deficient glycoprotein syndrome, type Ia" RELATED [OMIM:212065] -synonym: "carbohydrate-deficient glycoprotein syndrome, type Ia, formerly" RELATED [OMIM:212065] -synonym: "CDG 1A" EXACT [GARD:0009826, OMIM:212065] +synonym: "carbohydrate-deficient glycoprotein syndrome, type Ia" RELATED [] +synonym: "carbohydrate-deficient glycoprotein syndrome, type Ia, formerly" RELATED [] +synonym: "CDG 1A" EXACT [GARD:0009826] synonym: "CDG syndrome type Ia" EXACT [Orphanet:79318] synonym: "CDG-IA" EXACT [Orphanet:79318] -synonym: "CDG1A" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C126868, OMIM:212065, Orphanet:79318] +synonym: "CDG1A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212065, Orphanet:79318] synonym: "congenital disorder of glycosylation type 1a" EXACT [Orphanet:79318] -synonym: "congenital disorder of glycosylation type Ia" EXACT [Orphanet:79318] -synonym: "congenital disorder of glycosylation, type Ia" RELATED [MONDO:Lexical, OMIM:212065] -synonym: "Jaeken syndrome" RELATED [OMIM:212065] +synonym: "congenital disorder of glycosylation type Ia" EXACT [NCIT:C126868, Orphanet:79318] +synonym: "congenital disorder of glycosylation, type Ia" RELATED [MONDO:Lexical] +synonym: "Jaeken syndrome" RELATED [] synonym: "phosphomannomutase 2 deficiency" EXACT [OMIM:212065, Orphanet:79318] synonym: "PMM2-CDG" EXACT ABBREVIATION [NORD:1585, Orphanet:79318] synonym: "PMM2-CDG (CDG-Ia)" RELATED [GARD:0009826] -synonym: "PMM2-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] +synonym: "PMM2-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [DOID:0080552] xref: DOID:0080552 {source="MONDO:equivalentTo"} xref: GARD:9826 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:79318/attributed", source="Orphanet:79318/ntbt", source="Orphanet:79318"} @@ -188128,23 +188155,23 @@ subset: ordo_disorder {source="Orphanet:79329"} subset: orphanet_rare {source="Orphanet:79329"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alkuraya syndrome" RELATED [OMIM:212066] +synonym: "Alkuraya syndrome" RELATED [] synonym: "carbohydrate deficient glycoprotein syndrome type IIa" EXACT [Orphanet:79329] synonym: "carbohydrate-deficient glycoprotein syndrome type 2" RELATED [GARD:0009828] -synonym: "carbohydrate-deficient glycoprotein syndrome, type II" RELATED [OMIM:212066] -synonym: "carbohydrate-deficient glycoprotein syndrome, type II, formerly" RELATED [OMIM:212066] +synonym: "carbohydrate-deficient glycoprotein syndrome, type II" RELATED [] +synonym: "carbohydrate-deficient glycoprotein syndrome, type II, formerly" RELATED [] synonym: "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly" RELATED [GARD:0009828] synonym: "CDG 2A" RELATED [GARD:0009828] -synonym: "CDG IIa" RELATED [OMIM:212066] +synonym: "CDG IIa" RELATED [] synonym: "CDG syndrome type IIa" EXACT [Orphanet:79329] synonym: "CDG-IIa" EXACT [Orphanet:79329] -synonym: "CDG2A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212066, Orphanet:79329] +synonym: "CDG2A" EXACT ABBREVIATION [DOID:0070253, MONDO:Lexical, OMIM:212066, Orphanet:79329] synonym: "CDGS2" RELATED ABBREVIATION [GARD:0009828] synonym: "congenital disorder of glycosylation type 2a" EXACT [Orphanet:79329] -synonym: "congenital disorder of glycosylation type IIa" EXACT [Orphanet:79329] -synonym: "congenital disorder of glycosylation, type IIa" RELATED [MONDO:Lexical, OMIM:212066] -synonym: "intellectual disability, Growth retardation, prominent columella, and open mouth" RELATED [OMIM:212066] -synonym: "mental retardation, Growth retardation, prominent columella, and open mouth" RELATED DEPRECATED [OMIM:212066] +synonym: "congenital disorder of glycosylation type IIa" EXACT [DOID:0070253, Orphanet:79329] +synonym: "congenital disorder of glycosylation, type IIa" RELATED [MONDO:Lexical] +synonym: "intellectual disability, Growth retardation, prominent columella, and open mouth" RELATED [] +synonym: "mental retardation, Growth retardation, prominent columella, and open mouth" RELATED DEPRECATED [] synonym: "MGAT2-CDG" EXACT ABBREVIATION [Orphanet:79329] synonym: "MGAT2-CDG (CDG-IIa)" RELATED [GARD:0009828] synonym: "N-acetylglucosaminyltransferase 2 deficiency" EXACT [Orphanet:79329] @@ -188169,7 +188196,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0008909 name: congenital disorder of glycosylation, type i/IIx synonym: "CDG X" RELATED [GARD:0009840] -synonym: "CDG-X" RELATED [OMIM:212067] +synonym: "CDG-X" RELATED [] synonym: "congenital disorder of glycosylation type I/IIX" RELATED [GARD:0009840] synonym: "congenital disorder of glycosylation, type i/IIx" EXACT [OMIM:212067] xref: MEDGEN:91162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -188185,7 +188212,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9840/congeni id: MONDO:0008910 name: carboxypeptidase N deficiency def: "An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity." [NCIT:C132196] -synonym: "carboxypeptidase N deficiency" EXACT CLINGEN_LABEL [OMIM:212070] +synonym: "carboxypeptidase N deficiency" EXACT CLINGEN_LABEL [DOID:0111583, NCIT:C132196, OMIM:212070] xref: DOID:0111583 {source="MONDO:equivalentTo"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:98312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -188226,9 +188253,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0008913 name: cardiac valvular defect, developmental subset: otar {source="MONDO:OTAR"} -synonym: "CARDIAC valvular defect, developmental" RELATED [OMIM:212093] -synonym: "cardiac valvular defect, developmental" EXACT [OMIM:212093] -synonym: "CVDD" RELATED ABBREVIATION [OMIM:212093] +synonym: "CARDIAC valvular defect, developmental" RELATED [] +synonym: "cardiac valvular defect, developmental" EXACT [] +synonym: "CVDD" RELATED ABBREVIATION [] xref: DOID:0080633 {source="MONDO:equivalentTo"} xref: MEDGEN:1823949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565882 {source="MONDO:equivalentTo"} @@ -188264,15 +188291,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:2229"} subset: orphanet_rare {source="Orphanet:2229"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cardiogenital syndrome" EXACT [Orphanet:2229] -synonym: "cardiomyopathy with primary testicular failure" RELATED [OMIM:212112] -synonym: "cardiomyopathy, congestive, with hypergonadotropic hypogonadism" RELATED [OMIM:212112] -synonym: "cardiomyopathy, dilated, with hypergonadotropic hypogonadism" RELATED [OMIM:212112] -synonym: "cardiomyopathy, dilated, with premature ovarian failure" RELATED [OMIM:212112] +synonym: "cardiogenital syndrome" EXACT [DOID:0111584, OMIM:212112, Orphanet:2229] +synonym: "cardiomyopathy with primary testicular failure" RELATED [] +synonym: "cardiomyopathy, congestive, with hypergonadotropic hypogonadism" RELATED [] +synonym: "cardiomyopathy, dilated, with hypergonadotropic hypogonadism" RELATED [] +synonym: "cardiomyopathy, dilated, with premature ovarian failure" RELATED [] synonym: "dilated cardiomyopathy with hypergonadotropic hypogonadism" RELATED [GARD:0003373] -synonym: "genital anomaly with cardiomyopathy" RELATED [OMIM:212112] -synonym: "Malouf syndrome" EXACT [OMIM:212112, Orphanet:2229] -synonym: "Najjar syndrome" EXACT [OMIM:212112, Orphanet:2229] +synonym: "genital anomaly with cardiomyopathy" RELATED [] +synonym: "Malouf syndrome" EXACT [DOID:0111584, NCIT:C174217, OMIM:212112, Orphanet:2229] +synonym: "Najjar syndrome" EXACT [DOID:0111584, NCIT:C174217, OMIM:212112, Orphanet:2229] xref: DOID:0111584 {source="MONDO:equivalentTo"} xref: GARD:3373 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2229", source="Orphanet:2229/attributed", source="Orphanet:2229/ntbt"} @@ -188311,7 +188338,7 @@ subset: orphanet_rare {source="Orphanet:1354"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardioskeletal syndrome kuwaiti type" RELATED [] -synonym: "cardioskeletal syndrome, KUWAITI type" RELATED [OMIM:212135] +synonym: "cardioskeletal syndrome, KUWAITI type" RELATED [] synonym: "heart defect and limb shortening syndrome" EXACT [] synonym: "heart defects and limb shortening" RELATED [GARD:0002613] xref: GARD:2613 {source="MONDO:GARD"} @@ -188340,11 +188367,11 @@ subset: ordo_disorder {source="Orphanet:159"} subset: orphanet_rare {source="Orphanet:159"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CACT deficiency" EXACT [Orphanet:159] -synonym: "Cact deficiency" RELATED [OMIM:212138] -synonym: "CACTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212138] -synonym: "CARNITINE-acylcarnitine translocase deficiency" RELATED [OMIM:212138] -synonym: "carnitine-acylcarnitine translocase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:212138] +synonym: "CACT deficiency" EXACT [DOID:0111585, OMIM:212138, Orphanet:159] +synonym: "Cact deficiency" RELATED [] +synonym: "CACTD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "CARNITINE-acylcarnitine translocase deficiency" RELATED [] +synonym: "carnitine-acylcarnitine translocase deficiency" EXACT CLINGEN_LABEL [DOID:0111585, icd11.foundation:677949122, MONDO:Lexical, NCIT:C133086, OMIM:212138, Orphanet:159] xref: DOID:0111585 {source="MONDO:equivalentTo"} xref: GARD:1123 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:159", source="Orphanet:159/attributed", source="Orphanet:159/ntbt"} @@ -188378,26 +188405,27 @@ subset: orphanet_rare {source="Orphanet:158"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Carnitine deficiency" EXACT [NCIT:C98864] -synonym: "Carnitine deficiency, primary" RELATED [OMIM:212140] -synonym: "CARNITINE deficiency, systemic primary" RELATED [MONDO:Lexical, OMIM:212140] -synonym: "Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine" RELATED [OMIM:212140] +synonym: "Carnitine deficiency, primary" RELATED [] +synonym: "CARNITINE deficiency, systemic primary" RELATED [MONDO:Lexical] +synonym: "Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine" RELATED [] synonym: "Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine" RELATED [GARD:0005104] synonym: "Carnitine plasma-membrane transporter deficiency" RELATED [GARD:0005104] synonym: "Carnitine transporter defect" EXACT [Orphanet:158] -synonym: "carnitine transporter deficiency" EXACT [DOID:14365] -synonym: "Carnitine transporter, plasma-Membrane, deficiency of" RELATED [OMIM:212140] -synonym: "Carnitine uptake defect" RELATED [OMIM:212140] -synonym: "carnitine uptake defect" EXACT [DOID:14365] -synonym: "Carnitine uptake deficiency" EXACT [Orphanet:158] +synonym: "carnitine transporter deficiency" EXACT [DOID:14365, NCIT:C98864] +synonym: "Carnitine transporter, plasma-Membrane, deficiency of" RELATED [] +synonym: "Carnitine uptake defect" RELATED [] +synonym: "carnitine uptake defect" EXACT [DOID:14365, OMIM:212140] +synonym: "Carnitine uptake deficiency" EXACT [NCIT:C98864, Orphanet:158] synonym: "CDSP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212140, Orphanet:158] -synonym: "cud" EXACT [Orphanet:158] +synonym: "CUD" EXACT ABBREVIATION [Orphanet:158] +synonym: "cud" EXACT [] synonym: "deficiency of plasma-membrane carnitine transporter" EXACT [DOID:14365, Orphanet:158] -synonym: "primary carnitine deficiency" EXACT [DOID:14365, ICD9CM:277.81] -synonym: "renal carnitine transport defect" EXACT [DOID:14365] +synonym: "primary carnitine deficiency" EXACT [DOID:14365, ICD9CM:277.81, NCIT:C98864] +synonym: "renal carnitine transport defect" EXACT [DOID:14365, NCIT:C98864] synonym: "SPCD" EXACT ABBREVIATION [Orphanet:158] -synonym: "systemic Carnitine deficiency" RELATED [OMIM:212140] -synonym: "systemic primary carnitine deficiency" RELATED [Orphanet:158] -synonym: "systemic primary carnitine deficiency disease" EXACT CLINGEN_LABEL [] +synonym: "systemic Carnitine deficiency" RELATED [] +synonym: "systemic primary carnitine deficiency" RELATED [] +synonym: "systemic primary carnitine deficiency disease" EXACT CLINGEN_LABEL [DOID:14365] xref: DOID:14365 {source="MONDO:equivalentTo"} xref: GARD:5104 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:158", source="Orphanet:158/attributed", source="Orphanet:158/ntbt"} @@ -188442,9 +188470,9 @@ subset: ordo_disorder {source="Orphanet:1361"} subset: orphanet_rare {source="Orphanet:1361"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Carnosinase deficiency" EXACT [OMIM:212200, Orphanet:1361] -synonym: "carnosinemia" EXACT [OMIM:212200] -synonym: "homocarnosinosis" RELATED AMBIGUOUS [Orphanet:1361] +synonym: "Carnosinase deficiency" EXACT [NCIT:C125661, OMIM:212200, Orphanet:1361] +synonym: "carnosinemia" EXACT [NCIT:C125661, OMIM:212200] +synonym: "homocarnosinosis" RELATED AMBIGUOUS [] xref: GARD:6001 {source="MONDO:GARD"} xref: ICD10CM:E70.8 {source="Orphanet:1361/attributed", source="Orphanet:1361/ntbt", source="Orphanet:1361"} xref: MEDGEN:501203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -188469,12 +188497,12 @@ subset: orphanet_rare {source="Orphanet:1369"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathic mitochondrial DNA depletion syndrome 10" RELATED [GARD:0001142] -synonym: "cardiomyopathy and cataract" RELATED [OMIM:212350] +synonym: "cardiomyopathy and cataract" RELATED [] synonym: "cataract and cardiomyopathy" RELATED [GARD:0001142] -synonym: "congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome" RELATED [Orphanet:1369] -synonym: "mitochondrial DNA depletion syndrome 10" EXACT [DOID:0080132] -synonym: "mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)" RELATED [OMIM:212350] -synonym: "Sengers syndrome" EXACT CLINGEN_LABEL [OMIM:212350, Orphanet:1369] +synonym: "congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome" RELATED [] +synonym: "mitochondrial DNA depletion syndrome 10" EXACT [DOID:0080132, OMIM:212350] +synonym: "mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)" RELATED [] +synonym: "Sengers syndrome" EXACT CLINGEN_LABEL [DOID:0080132, OMIM:212350, Orphanet:1369] xref: DOID:0080132 {source="MONDO:equivalentTo"} xref: GARD:1142 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1369", source="Orphanet:1369/attributed", source="Orphanet:1369/ntbt"} @@ -188502,17 +188530,17 @@ subset: ordo_disorder {source="Orphanet:1366"} subset: orphanet_rare {source="Orphanet:1366"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" EXACT [Orphanet:1366] +synonym: "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" EXACT [DOID:0111245, Orphanet:1366] synonym: "cass" RELATED [GARD:0001139] synonym: "cataract, alopecia, sclerodactyly" RELATED [GARD:0001139] synonym: "cataract, alopecia, sclerodactyly syndrome" RELATED [GARD:0001139] -synonym: "cataract-alopecia-sclerodactyly syndrome" EXACT [OMIM:212360, Orphanet:1366] -synonym: "palmoplantar keratoderma and congenital alopecia 2" RELATED [MONDO:Lexical, OMIM:212360] -synonym: "palmoplantar keratoderma and congenital alopecia type 2" EXACT [MONDORULE:1, OMIM:212360] -synonym: "palmoplantar keratoderma and congenital alopecia, Wallis type" EXACT [Orphanet:1366] -synonym: "PPK-CA, Wallis type" EXACT [Orphanet:1366] -synonym: "Ppkca, Wallis type" RELATED [OMIM:212360] -synonym: "PPKCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212360] +synonym: "cataract-alopecia-sclerodactyly syndrome" EXACT [DOID:0111245, OMIM:212360, Orphanet:1366] +synonym: "palmoplantar keratoderma and congenital alopecia 2" RELATED [MONDO:Lexical] +synonym: "palmoplantar keratoderma and congenital alopecia type 2" EXACT [MONDORULE:1] +synonym: "palmoplantar keratoderma and congenital alopecia, Wallis type" EXACT [DOID:0111245, Orphanet:1366] +synonym: "PPK-CA, Wallis type" EXACT [DOID:0111245, Orphanet:1366] +synonym: "Ppkca, Wallis type" RELATED [] +synonym: "PPKCA2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111245 {source="MONDO:equivalentTo"} xref: GARD:1139 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:1366/attributed", source="Orphanet:1366/ntbt", source="Orphanet:1366"} @@ -188535,7 +188563,7 @@ def: "Congenital cataract-ichthyosis syndrome is characterized by congenital cat subset: gard_rare {source="GARD:1145", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cataract and congenital ichthyosis" RELATED [OMIM:212400] +synonym: "cataract and congenital ichthyosis" RELATED [] synonym: "Syndermotic cataract and congenital ichthyosis" RELATED [GARD:0001145] xref: GARD:1145 {source="MONDO:GARD"} xref: MEDGEN:347122 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -188558,11 +188586,11 @@ subset: gard_rare {source="GARD:1150", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cataract 46, juvenile-onset" RELATED [OMIM:212500] +synonym: "cataract 46, juvenile-onset" RELATED [] synonym: "cataract Hutterite type" RELATED [GARD:0001150] -synonym: "cataract, congenital or juvenile" RELATED [OMIM:212500] -synonym: "cataract, juvenile, Hutterite type" RELATED [OMIM:212500] -synonym: "CTRCT46" EXACT ABBREVIATION [DOID:0110243] +synonym: "cataract, congenital or juvenile" RELATED [] +synonym: "cataract, juvenile, Hutterite type" RELATED [] +synonym: "CTRCT46" EXACT ABBREVIATION [DOID:0110243, OMIM:212500] synonym: "early-onset non-syndromic cataract caused by mutation in LEMD2" EXACT [MONDO:design_pattern] synonym: "juvenilae cataract Hutterite type" EXACT [DOID:0110243] synonym: "LEMD2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -188594,7 +188622,7 @@ subset: prototype_pattern subset: rare synonym: "Cerebro Oculo Facio Skeletal Syndrome" EXACT [NORD:913] synonym: "cerebro-oculo-facio-skeletal syndrome" EXACT [NCIT:C3817] -synonym: "cerebrooculofacioskeletal syndrome" EXACT [MONDO:0000010, Orphanet:1466] +synonym: "cerebrooculofacioskeletal syndrome" EXACT [DOID:0080910, MONDO:0000010, NCIT:C3817, OMIMPS:214150, Orphanet:1466] synonym: "COFS" EXACT ABBREVIATION [] synonym: "Pena-Shokeir syndrome type 2" EXACT [Orphanet:1466] xref: DOID:0080910 {source="MONDO:equivalentTo"} @@ -188622,8 +188650,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:435930"} subset: orphanet_rare {source="Orphanet:435930"} subset: rare -synonym: "ODRMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212550] -synonym: "optic DISC anomalies with retinal and/or macular dystrophy" RELATED [MONDO:Lexical, OMIM:212550] +synonym: "ODRMD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "optic DISC anomalies with retinal and/or macular dystrophy" RELATED [MONDO:Lexical] xref: DOID:0080635 {source="MONDO:equivalentTo"} xref: GARD:17719 {source="MONDO:GARD"} xref: ICD10CM:Q14.8 {source="Orphanet:435930/attributed", source="Orphanet:435930/ntbt", source="Orphanet:435930"} @@ -188651,9 +188679,9 @@ subset: rare synonym: "Begeer syndrome" RELATED [GARD:0001141] synonym: "cataract ataxia deafness" RELATED [GARD:0001141] synonym: "cataract ataxia deafness syndrome" RELATED [GARD:0001141] -synonym: "cataract-ataxia-deafness-retardation syndrome" RELATED [OMIM:212710] +synonym: "cataract-ataxia-deafness-retardation syndrome" RELATED [] synonym: "polyneuropathy, cataract, deafness syndrome" RELATED [GARD:0001141] -synonym: "polyneuropathy-cataract-deafness syndrome" RELATED [OMIM:212710] +synonym: "polyneuropathy-cataract-deafness syndrome" RELATED [] xref: GARD:1141 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:1368", source="Orphanet:1368/attributed", source="Orphanet:1368/ntbt"} xref: MEDGEN:163216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -188675,16 +188703,16 @@ replaced_by: MONDO:0023910 id: MONDO:0008930 name: celiac disease, susceptibility to, 1 subset: predisposition -synonym: "celiac disease, susceptibility to" EXACT [OMIM:212750, OMIM:genemap2] +synonym: "celiac disease, susceptibility to" EXACT [] synonym: "celiac disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:212750] -synonym: "celiac disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:212750] -synonym: "celiac sprue, susceptibility to, 1" RELATED [OMIM:212750] -synonym: "CELIAC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212750] +synonym: "celiac disease, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "celiac sprue, susceptibility to, 1" RELATED [] +synonym: "CELIAC1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "coeliac disease, susceptibility to" EXACT OMO:0003005 [] synonym: "coeliac disease, susceptibility to, type 1" EXACT OMO:0003005 [] synonym: "coeliac sprue, susceptibility to, 1" RELATED OMO:0003005 [] -synonym: "gluten-sensitive enteropathy, susceptibility to, 1" RELATED [OMIM:212750] -synonym: "susceptibility to celiac disease 1" RELATED [OMIM:212750] +synonym: "gluten-sensitive enteropathy, susceptibility to, 1" RELATED [] +synonym: "susceptibility to celiac disease 1" RELATED [] synonym: "susceptibility to coeliac disease 1" RELATED OMO:0003005 [] xref: MEDGEN:395227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:212750 {source="MONDO:equivalentTo"} @@ -188705,16 +188733,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:3258"} subset: orphanet_rare {source="Orphanet:3258"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cenani syndactylism" RELATED [OMIM:212780] +synonym: "Cenani syndactylism" RELATED [] synonym: "Cenani syndactyly" EXACT [Orphanet:3258] synonym: "Cenani-Lenz syndactyly" EXACT [OMIM:212780, Orphanet:3258] -synonym: "Cenani-Lenz syndactyly syndrome" EXACT [MONDO:Lexical, OMIM:212780] -synonym: "Cenani-Lenz syndrome" RELATED [Orphanet:3258] +synonym: "Cenani-Lenz syndactyly syndrome" EXACT [DOID:0090015, MONDO:Lexical, OMIM:212780] +synonym: "Cenani-Lenz syndrome" RELATED [] synonym: "Cenani-Lenz type syndactyly" RELATED [GARD:0005084] -synonym: "CLSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212780] +synonym: "CLSS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "syndactyly Cenani Lenz type" RELATED [GARD:0005084] synonym: "syndactyly type 7" EXACT [DOID:0090015, Orphanet:3258] -synonym: "syndactyly, type 7" RELATED [OMIM:212780] +synonym: "syndactyly, type 7" RELATED [] xref: DOID:0090015 {source="MONDO:equivalentTo"} xref: GARD:5084 {source="MONDO:GARD"} xref: ICD10CM:Q78.4 {source="Orphanet:3258/attributed", source="Orphanet:3258/ntbt", source="Orphanet:3258", source="DOID:0090015"} @@ -188734,7 +188762,7 @@ id: MONDO:0008932 name: premature centromere division synonym: "PCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212790] synonym: "premature centromere division" EXACT [MONDO:Lexical, OMIM:212790] -synonym: "X-chromosome centromere peculiarity" RELATED [OMIM:212790] +synonym: "X-chromosome centromere peculiarity" RELATED [] xref: MEDGEN:349138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:212790 {source="MONDO:equivalentTo"} xref: UMLS:C1859308 {source="MEDGEN:349138", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -188762,7 +188790,7 @@ subset: orphanet_rare {source="Orphanet:1174"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebellar ataxia - ectodermal dysplasia" RELATED [GARD:0001189] -synonym: "cerebellar ataxia and ectodermal dysplasia" RELATED [OMIM:212835] +synonym: "cerebellar ataxia and ectodermal dysplasia" RELATED [] synonym: "cerebellar ataxia ectodermal dysplasia" RELATED [GARD:0001189] synonym: "ectodermal dysplasia and cerebellar ataxia" RELATED [GARD:0001189] xref: GARD:1189 {source="MONDO:GARD"} @@ -188786,14 +188814,14 @@ subset: orphanet_rare {source="Orphanet:1173"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebellar ataxia - hypogonadism" RELATED [GARD:0003314] -synonym: "cerebellar ataxia and hypogonadotropic hypogonadism" RELATED [OMIM:212840] -synonym: "GDHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:212840] -synonym: "Gordon Holmes syndrome" RELATED [MONDO:Lexical, OMIM:212840] +synonym: "cerebellar ataxia and hypogonadotropic hypogonadism" RELATED [] +synonym: "GDHS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Gordon Holmes syndrome" RELATED [MONDO:Lexical] synonym: "Gordon-Holmes syndrome" EXACT [Orphanet:1173] -synonym: "LHRH deficiency and ataxia" RELATED [OMIM:212840] +synonym: "LHRH deficiency and ataxia" RELATED [] synonym: "luteinizing hormone releasing hormone, deficiency of with ataxia" RELATED [GARD:0003314] -synonym: "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT [Orphanet:1173] -synonym: "luteinizing hormone-releasing hormone, deficiency of, with ataxia" RELATED [OMIM:212840] +synonym: "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT [DOID:0111587, Orphanet:1173] +synonym: "luteinizing hormone-releasing hormone, deficiency of, with ataxia" RELATED [] xref: DOID:0111587 {source="MONDO:equivalentTo"} xref: GARD:3314 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:1173/attributed", source="Orphanet:1173/ntbt", source="Orphanet:1173"} @@ -188820,7 +188848,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0008937 name: cerebellar ataxia, benign, with thermoanalgesia -synonym: "cerebellar ataxia with loss of pain and temperature sensation" RELATED [OMIM:212890] +synonym: "cerebellar ataxia with loss of pain and temperature sensation" RELATED [] synonym: "cerebellar ataxia, benign, with thermoanalgesia" EXACT [OMIM:212890] xref: MEDGEN:349136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565868 {source="MONDO:equivalentTo"} @@ -188840,7 +188868,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ataxia, harding type" RELATED [GARD:0002600] synonym: "cerebellar ataxia early onset with retained tendon reflex" RELATED [GARD:0002600] -synonym: "cerebellar ataxia, early-onset, with retained tendon reflexes" RELATED [MONDO:Lexical, OMIM:212895] +synonym: "cerebellar ataxia, early-onset, with retained tendon reflexes" RELATED [MONDO:Lexical] synonym: "EOCA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:212895, Orphanet:1177] synonym: "EOCARR" EXACT ABBREVIATION [Orphanet:1177] synonym: "Harding ataxia" EXACT [Orphanet:1177] @@ -188867,12 +188895,12 @@ subset: orphanet_rare {source="Orphanet:1398"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cerebellar Agenesis" EXACT [NORD:910] -synonym: "cerebellar hypoplasia" RELATED [OMIM:213000] -synonym: "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" EXACT [OMIM:213000, OMIM:genemap2] -synonym: "Chiari 4 malformation" EXACT [Orphanet:1398] -synonym: "Chiari IV malformation" EXACT [Orphanet:1398] +synonym: "cerebellar hypoplasia" RELATED [] +synonym: "cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" EXACT [OMIM:213000] +synonym: "Chiari 4 malformation" EXACT [] +synonym: "Chiari IV malformation" EXACT [] synonym: "congenital cerebellar Hypoplasia" EXACT [NCIT:C98890] -synonym: "isolated cerebellar agenesis" RELATED [Orphanet:1398] +synonym: "isolated cerebellar agenesis" RELATED [] synonym: "near total absence of cerebellum" EXACT [Orphanet:1398] synonym: "subtotal absence of cerebellum" EXACT [Orphanet:1398] xref: DOID:0070338 {source="MONDO:equivalentTo"} @@ -188912,7 +188940,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2031"} subset: orphanet_rare {source="Orphanet:2031"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome" RELATED [OMIM:213010] +synonym: "cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome" RELATED [] synonym: "Thompson Baraitser syndrome" EXACT [GARD:0005177] synonym: "Thompson-Baraitser syndrome" EXACT [Orphanet:2031] xref: GARD:5177 {source="MONDO:GARD"} @@ -188947,19 +188975,19 @@ subset: ordo_disorder {source="Orphanet:1170"} subset: orphanet_rare {source="Orphanet:1170"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive cerebelloparenchymal disorder type 3" RELATED [Orphanet:1170] +synonym: "autosomal recessive cerebelloparenchymal disorder type 3" RELATED [] synonym: "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive spinocerebellar ataxia type 2" EXACT [DOID:0080061, MONDORULE:1, Orphanet:1170] -synonym: "cerebellar granular cell hypoplasia and intellectual disability, congenital" RELATED [OMIM:213200] -synonym: "cerebellar granular cell hypoplasia and mental retardation, congenital" RELATED DEPRECATED [OMIM:213200] -synonym: "cerebellar hypoplasia, nonprogressive Norman type" RELATED [OMIM:213200] -synonym: "cerebelloparenchymal disorder 3" RELATED [OMIM:213200] -synonym: "CPD 3" RELATED [OMIM:213200] +synonym: "autosomal recessive spinocerebellar ataxia type 2" EXACT [MONDORULE:1, Orphanet:1170] +synonym: "cerebellar granular cell hypoplasia and intellectual disability, congenital" RELATED [] +synonym: "cerebellar granular cell hypoplasia and mental retardation, congenital" RELATED DEPRECATED [] +synonym: "cerebellar hypoplasia, nonprogressive Norman type" RELATED [] +synonym: "cerebelloparenchymal disorder 3" RELATED [] +synonym: "CPD 3" RELATED [] synonym: "CPD3" RELATED ABBREVIATION [GARD:0001199] synonym: "CPDIII" RELATED ABBREVIATION [GARD:0001199] synonym: "PMPCA autosomal recessive congenital cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SCAR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:213200, Orphanet:1170] -synonym: "spinocerebellar ataxia, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:213200] +synonym: "SCAR2" EXACT ABBREVIATION [DOID:0080061, MONDO:Lexical, OMIM:213200, Orphanet:1170] +synonym: "spinocerebellar ataxia, autosomal recessive 2" RELATED [MONDO:Lexical] xref: DOID:0080061 {source="MONDO:equivalentTo"} xref: GARD:1199 {source="MONDO:GARD"} xref: ICD10CM:G11.0 {source="Orphanet:1170", source="Orphanet:1170/attributed", source="Orphanet:1170/ntbt"} @@ -188982,19 +189010,19 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Cerebellooculorenal syndrome 1" RELATED [OMIM:213300] -synonym: "cerebellooculorenal syndrome 1" EXACT [DOID:0110980] -synonym: "cerebelloparenchymal disorder 4" RELATED [OMIM:213300] -synonym: "cerebelloparenchymal disorder IV" RELATED EXCLUDE [DOID:0110980] +synonym: "Cerebellooculorenal syndrome 1" RELATED [] +synonym: "cerebellooculorenal syndrome 1" EXACT [DOID:0110980, OMIM:213300] +synonym: "cerebelloparenchymal disorder 4" RELATED [] +synonym: "cerebelloparenchymal disorder IV" RELATED EXCLUDE [] synonym: "CORS1" EXACT ABBREVIATION [DOID:0110980] synonym: "CPD4" EXACT ABBREVIATION [DOID:0110980] synonym: "INPP5E Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS1" EXACT ABBREVIATION [DOID:0110980, MONDO:Lexical, OMIM:213300] -synonym: "Joubert syndrome" RELATED [OMIM:213300] -synonym: "Joubert syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:213300] +synonym: "Joubert syndrome" RELATED [] +synonym: "Joubert syndrome 1" EXACT CLINGEN_LABEL [DOID:0110980, MONDO:Lexical, OMIM:213300] synonym: "Joubert syndrome caused by mutation in INPP5E" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 1" EXACT [DOID:0110980, MONDORULE:1, OMIM:213300] -synonym: "Joubert-Boltshauser syndrome" RELATED [OMIM:213300] +synonym: "Joubert syndrome type 1" EXACT [MONDORULE:1] +synonym: "Joubert-Boltshauser syndrome" RELATED [] xref: DOID:0110980 {source="MONDO:equivalentTo"} xref: MEDGEN:1644883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:213300 {source="MONDO:equivalentTo", source="DOID:0110980"} @@ -189014,24 +189042,24 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare subset: speculative -synonym: "cerebelloparenchymal disorder 5" RELATED [OMIM:213400] -synonym: "cerebelloparenchymal disorder type 5" EXACT [MONDORULE:1, OMIM:213400] -synonym: "cerebelloparenchymal disorder V" RELATED [MONDO:Lexical, OMIM:213400] -synonym: "CPD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:213400] +synonym: "cerebelloparenchymal disorder 5" RELATED [] +synonym: "cerebelloparenchymal disorder type 5" EXACT [MONDORULE:1] +synonym: "cerebelloparenchymal disorder V" RELATED [MONDO:Lexical] +synonym: "CPD5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "dentate cerebellar ataxia" RELATED [GARD:0009256] synonym: "dentatorubral atrophy" RELATED [GARD:0009256] synonym: "dyssynergia cerebellaris myoclonica" EXACT [DOID:12707, https://www.ninds.nih.gov/Disorders/All-Disorders/Ramsay-Hunt-Syndrome-I-Information-Page] -synonym: "dyssynergia cerebellaris myoclonica of Hunt" RELATED [OMIM:213400] +synonym: "dyssynergia cerebellaris myoclonica of Hunt" RELATED [] synonym: "dyssynergia cerebellaris progressiva" RELATED [GARD:0009256] -synonym: "myoclonus and ataxia" EXACT [OMIM:159700] +synonym: "myoclonus and ataxia" EXACT [OMIM:213400] synonym: "primary dentatum atrophy" RELATED [GARD:0009256] synonym: "progressive cerebellar tremor" EXACT [DOID:12707] synonym: "progressive myoclonus ataxia" RELATED [GARD:0009256] synonym: "Ramsay Hunt cerebellar syndrome" RELATED [Wikipedia:Ramsay_Hunt_syndrome_type_1] -synonym: "Ramsay Hunt syndrome" RELATED DEPRECATED [OMIM:159700, Wikipedia:Ramsay_Hunt_syndrome] -synonym: "Ramsay Hunt syndrome type 1" RELATED DEPRECATED [OMIM:159700, Wikipedia:Ramsay_Hunt_syndrome] +synonym: "Ramsay Hunt syndrome" RELATED DEPRECATED [Wikipedia:Ramsay_Hunt_syndrome] +synonym: "Ramsay Hunt syndrome type 1" RELATED DEPRECATED [Wikipedia:Ramsay_Hunt_syndrome] synonym: "Ramsay Hunt syndrome type 1 (formerly)" RELATED [GARD:0009256] -synonym: "Spinodentate atrophy" RELATED [OMIM:213400] +synonym: "Spinodentate atrophy" RELATED [] xref: DOID:12707 {source="EFO:1001053", source="MONDO:equivalentTo"} xref: EFO:1001053 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G11.1 {source="DOID:12707"} @@ -189069,15 +189097,15 @@ subset: ordo_disorder {source="Orphanet:1980"} subset: orphanet_rare {source="Orphanet:1980"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "basal ganglia calcification" EXACT [MONDO:0000720] -synonym: "basal ganglia calcification, idiopathic" RELATED [OMIMPS:213600] +synonym: "basal ganglia calcification" EXACT [DOID:0060230, MONDO:0000720] +synonym: "basal ganglia calcification, idiopathic" RELATED [] synonym: "basal ganglia degeneration with calcification" EXACT [] synonym: "BSPDC" EXACT ABBREVIATION [Orphanet:1980] synonym: "cerebrovascular ferrocalcinosis" EXACT [Orphanet:1980] -synonym: "Fahr disease" NARROW DEPRECATED [DOID:0060230] -synonym: "idiopathic basal ganglia calcification" NARROW [Orphanet:1980] +synonym: "Fahr disease" NARROW DEPRECATED [] +synonym: "idiopathic basal ganglia calcification" NARROW [] synonym: "PFBC" EXACT ABBREVIATION [Orphanet:1980] -synonym: "Primary Familial Brain Calcification" EXACT [NORD:1127] +synonym: "Primary Familial Brain Calcification" EXACT [NORD:1127, Orphanet:1980] synonym: "primary familial brain calcification" EXACT [Orphanet:1980] xref: DOID:0060230 {source="MONDO:equivalentTo"} xref: GARD:6406 {source="MONDO:GARD"} @@ -189109,11 +189137,12 @@ subset: ordo_disorder {source="Orphanet:909"} subset: orphanet_rare {source="Orphanet:909"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebral cholesterinosis" RELATED [OMIM:213700] -synonym: "cerebrotendinous xanthomatosis" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:213700] -synonym: "cholestanol storage disease" EXACT [DOID:4810] -synonym: "CTx" EXACT [MONDO:Lexical, OMIM:213700, Orphanet:909] -synonym: "sterol 27-hydroxylase deficiency" EXACT [Orphanet:909] +synonym: "cerebral cholesterinosis" RELATED [] +synonym: "cerebrotendinous xanthomatosis" EXACT CLINGEN_LABEL [DOID:4810, icd11.foundation:1556875179, MONDO:Lexical, NCIT:C84628, OMIM:213700, Orphanet:909] +synonym: "cholestanol storage disease" EXACT [DOID:4810, icd11.foundation:1556875179] +synonym: "CTX" EXACT ABBREVIATION [OMIM:213700, Orphanet:909] +synonym: "CTx" EXACT [MONDO:Lexical] +synonym: "sterol 27-hydroxylase deficiency" EXACT [icd11.foundation:1556875179, Orphanet:909] xref: DOID:4810 {source="MONDO:equivalentTo"} xref: GARD:5622 {source="MONDO:GARD"} xref: ICD10CM:E75.5 {source="Orphanet:909/ntbt", source="Orphanet:909/inclusion", source="Orphanet:909"} @@ -189193,12 +189222,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cerebrohepatorenal syndrome" RELATED [OMIM:214100] -synonym: "PBD1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214100] -synonym: "peroxisome biogenesis disorder 1A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:214100] -synonym: "peroxisome biogenesis disorder, complementation group 1" RELATED [OMIM:214100] -synonym: "peroxisome biogenesis disorder, complementation group E" RELATED [OMIM:214100] -synonym: "Zs" RELATED [OMIM:214100] +synonym: "Cerebrohepatorenal syndrome" RELATED [] +synonym: "PBD1A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 1A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080476, MONDO:Lexical, OMIM:214100] +synonym: "peroxisome biogenesis disorder, complementation group 1" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group E" RELATED [] +synonym: "Zs" RELATED [] xref: DOID:0080476 {source="MONDO:equivalentTo"} xref: MEDGEN:1648474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:214100 {source="MONDO:equivalentTo"} @@ -189217,9 +189246,9 @@ subset: gard_rare {source="GARD:15149", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PBD2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214110] -synonym: "peroxisome biogenesis disorder 2A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:214110] -synonym: "peroxisome biogenesis disorder, complementation group 2" RELATED [OMIM:214110] +synonym: "PBD2A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 2A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080477, MONDO:Lexical, OMIM:214110] +synonym: "peroxisome biogenesis disorder, complementation group 2" RELATED [] xref: DOID:0080477 {source="MONDO:equivalentTo"} xref: GARD:15149 {source="MONDO:GARD"} xref: MEDGEN:763187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -189239,13 +189268,13 @@ def: "Any COFS syndrome in which the cause of the disease is a mutation in the E subset: gard_rare {source="GARD:15150", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cerebrooculofacioskeletal syndrome 1" EXACT [MONDO:Lexical, OMIM:214150] -synonym: "cerebrooculofacioskeletal syndrome type 1" EXACT [MONDORULE:1, OMIM:214150] -synonym: "COFS syndrome" BROAD [OMIM:214150] +synonym: "cerebrooculofacioskeletal syndrome 1" EXACT [DOID:0080911, MONDO:Lexical, NCIT:C173085, OMIM:214150] +synonym: "cerebrooculofacioskeletal syndrome type 1" EXACT [MONDORULE:1] +synonym: "COFS syndrome" BROAD [] synonym: "COFS syndrome caused by mutation in ERCC6" EXACT [MONDO:design_pattern] -synonym: "COFS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:214150] +synonym: "COFS1" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C173085, OMIM:214150] synonym: "ERCC6 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Pena-Shokeir syndrome, type 2" RELATED [OMIM:214150] +synonym: "Pena-Shokeir syndrome, type 2" RELATED [] xref: DOID:0080911 {source="MONDO:equivalentTo"} xref: GARD:15150 {source="MONDO:GARD"} xref: MEDGEN:66320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -189288,11 +189317,11 @@ def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a subset: gard_rare {source="GARD:15151", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cervical vertebral fusion, autosomal recessive" RELATED [OMIM:214300] +synonym: "cervical vertebral fusion, autosomal recessive" RELATED [] synonym: "isolated Klippel-Feil syndrome caused by mutation in MEOX1" EXACT [MONDO:design_pattern] -synonym: "Kfs, autosomal recessive" RELATED [OMIM:214300] -synonym: "KFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214300] -synonym: "Klippel-FEIL syndrome 2, autosomal recessive" RELATED [OMIM:214300] +synonym: "Kfs, autosomal recessive" RELATED [] +synonym: "KFS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Klippel-FEIL syndrome 2, autosomal recessive" RELATED [] synonym: "Klippel-Feil syndrome 2, autosomal recessive" EXACT [MONDO:Lexical, OMIM:214300] synonym: "MEOX1 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080590 {source="MONDO:equivalentTo"} @@ -189314,9 +189343,9 @@ subset: ordo_disorder {source="Orphanet:1401"} subset: orphanet_rare {source="Orphanet:1401"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CHAND syndrome" EXACT [OMIM:214350] -synonym: "CHANDS" EXACT ABBREVIATION [OMIM:214350] -synonym: "curly hair-ankyloblepharon-nail dysplasia syndrome" RELATED [OMIM:214350] +synonym: "CHAND syndrome" EXACT [OMIM:214350, Orphanet:1401] +synonym: "CHANDS" EXACT ABBREVIATION [OMIM:214350, Orphanet:1401] +synonym: "curly hair-ankyloblepharon-nail dysplasia syndrome" RELATED [] xref: GARD:1233 {source="MONDO:GARD"} xref: MEDGEN:98035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538074 {source="MONDO:equivalentTo"} @@ -189338,15 +189367,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:90103"} subset: orphanet_rare {source="Orphanet:90103"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Charcot-Marie-Tooth disease and deafness" RELATED [OMIM:214370] -synonym: "Charcot-Marie-tooth disease-deafness-intellectual disability syndrome" NARROW [Orphanet:90103] +synonym: "Charcot-Marie-Tooth disease and deafness" RELATED [] +synonym: "Charcot-Marie-tooth disease-deafness-intellectual disability syndrome" NARROW [] synonym: "Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome" EXACT [Orphanet:90103] -synonym: "deafness with Charcot-Marie-Tooth disease" RELATED [OMIM:214370] +synonym: "deafness with Charcot-Marie-Tooth disease" RELATED [] synonym: "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers" EXACT [Orphanet:90103] synonym: "hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres" EXACT OMO:0003005 [] -synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers" RELATED [OMIM:214370] +synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers" RELATED [] synonym: "neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibres" RELATED OMO:0003005 [] -synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers" RELATED DEPRECATED [OMIM:214370] +synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers" RELATED DEPRECATED [] synonym: "neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibres" RELATED OMO:0003005 [] xref: GARD:16786 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:90103", source="Orphanet:90103/attributed", source="Orphanet:90103/ntbt"} @@ -189376,11 +189405,11 @@ subset: rare synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A" EXACT [DOID:0110185] synonym: "Charcot Marie Tooth disease type 4A" RELATED [GARD:0001252] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive" RELATED [OMIM:214400] -synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A" RELATED [OMIM:214400] -synonym: "Charcot-Marie-Tooth disease, type 4A" RELATED [MONDO:Lexical, OMIM:214400] +synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive" RELATED [] +synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 4A" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy type 4A" EXACT [DOID:0110185] -synonym: "Charcot-Marie-Tooth neuropathy, type 4A" RELATED [OMIM:214400] +synonym: "Charcot-Marie-Tooth neuropathy, type 4A" RELATED [] synonym: "CMT4A" EXACT ABBREVIATION [DOID:0110185, MONDO:Lexical, OMIM:214400, Orphanet:99948] synonym: "GDAP1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110185 {source="MONDO:equivalentTo"} @@ -189411,18 +189440,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79476"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Griscelli disease type 1" RELATED [Orphanet:79476] -synonym: "Griscelli syndrome type 1" EXACT CLINGEN_LABEL [] -synonym: "Griscelli syndrome with neurologic impairment" RELATED [OMIM:214450] +synonym: "Griscelli disease type 1" RELATED [] +synonym: "Griscelli syndrome type 1" EXACT CLINGEN_LABEL [DOID:0060832, icd11.foundation:875700770, Orphanet:79476] +synonym: "Griscelli syndrome with neurologic impairment" RELATED [] synonym: "Griscelli syndrome with neurological impairment" EXACT [DOID:0060832] -synonym: "Griscelli syndrome, cutaneous and neurologic type" RELATED [OMIM:214450] +synonym: "Griscelli syndrome, cutaneous and neurologic type" RELATED [] synonym: "Griscelli syndrome, cutaneous and neurological type" EXACT [DOID:0060832] -synonym: "Griscelli syndrome, type 1" RELATED [MONDO:Lexical, OMIM:214450] -synonym: "Griscelli-PruniC)ras syndrome type 1" EXACT [Orphanet:79476] -synonym: "Griscelli-Pruniéras syndrome type 1" EXACT [DOID:0060832] +synonym: "Griscelli syndrome, type 1" RELATED [MONDO:Lexical] +synonym: "Griscelli-PruniC)ras syndrome type 1" EXACT [] +synonym: "Griscelli-Pruniéras syndrome type 1" EXACT [Orphanet:79476] synonym: "GS1" EXACT ABBREVIATION [DOID:0060832, MONDO:Lexical, OMIM:214450] synonym: "hypopigmentation-neurologic impairment syndrome" EXACT [DOID:0060832, Orphanet:79476] -synonym: "partial albinism and primary neurologic disease without hemophagocytic syndrome" RELATED [OMIM:214450] +synonym: "partial albinism and primary neurologic disease without hemophagocytic syndrome" RELATED [] synonym: "pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts" RELATED [GARD:0002566] xref: DOID:0060832 {source="MONDO:equivalentTo"} xref: GARD:2566 {source="MONDO:GARD"} @@ -189455,12 +189484,12 @@ subset: ordo_disorder {source="Orphanet:167"} subset: orphanet_rare {source="Orphanet:167"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ChC)diak-Higashi disease" EXACT [Orphanet:167] -synonym: "ChC)diak-Higashi-Steinbrink syndrome" EXACT [Orphanet:167] +synonym: "ChC)diak-Higashi disease" EXACT [] +synonym: "ChC)diak-Higashi-Steinbrink syndrome" EXACT [] synonym: "Chediak - Steinbrinck anomaly" EXACT [DOID:2935] synonym: "Chediak Higashi Syndrome" EXACT [NORD:921] synonym: "Chediak Higashi syndrome" EXACT [GARD:0006035] -synonym: "Chediak-Higashi syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:214500] +synonym: "Chediak-Higashi syndrome" EXACT CLINGEN_LABEL [DOID:2935, ICD10CM:E70.330, MONDO:Lexical, NCIT:C2941, OMIM:214500] synonym: "CHS" EXACT ABBREVIATION [DOID:2935, MONDO:Lexical, OMIM:214500] synonym: "Chédiak-Higashi disease" EXACT [Orphanet:167] synonym: "Chédiak-Higashi syndrome" EXACT [Orphanet:167] @@ -189507,19 +189536,19 @@ subset: ordo_disorder {source="Orphanet:53689"} subset: orphanet_rare {source="Orphanet:53689"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chloride diarrhea, congenital, Finnish type" RELATED [OMIM:214700] -synonym: "Chloridorrhea, congenital" RELATED [OMIM:214700] +synonym: "chloride diarrhea, congenital, Finnish type" RELATED [] +synonym: "Chloridorrhea, congenital" RELATED [] synonym: "CLD" RELATED ABBREVIATION [GARD:0010001] -synonym: "congenital chloride diarrhea" RELATED [Orphanet:53689] +synonym: "congenital chloride diarrhea" RELATED [] synonym: "congenital chloride diarrhea Finnish type" EXACT [DOID:0060296] synonym: "congenital chloride diarrhoea" RELATED OMO:0003005 [] -synonym: "congenital chloride diarrhoea Finnish type" EXACT OMO:0003005 [] +synonym: "congenital chloride diarrhoea Finnish type" EXACT OMO:0003005 [DOID:0060296] synonym: "congenital chloridorrhea" EXACT [DOID:0060296, Wikipedia:Congenital_chloride_diarrhea] -synonym: "congenital secretory chloride diarrhea type 1" EXACT [DOID:0060296, MONDORULE:1] +synonym: "congenital secretory chloride diarrhea type 1" EXACT [MONDORULE:1] synonym: "congenital secretory chloride diarrhoea type 1" EXACT OMO:0003005 [] synonym: "Darrow-gamble disease" RELATED [GARD:0010001] -synonym: "DIAR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:214700] -synonym: "diarrhea 1, secretory chloride, congenital" RELATED [MONDO:Lexical, OMIM:214700] +synonym: "DIAR1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "diarrhea 1, secretory chloride, congenital" RELATED [MONDO:Lexical] synonym: "diarrhoea 1, secretory chloride, congenital" RELATED OMO:0003005 [] synonym: "familial chloride diarrhea" RELATED [GARD:0010001] synonym: "familial chloride diarrhoea" RELATED OMO:0003005 [] @@ -189557,9 +189586,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:138"} subset: orphanet_rare {source="Orphanet:138"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CHARGE association" EXACT [DOID:0050834, GARD:0000029, Orphanet:138] -synonym: "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies" RELATED [OMIM:214800] -synonym: "CHARGE syndrome" EXACT CLINGEN_LABEL [OMIM:214800] +synonym: "CHARGE association" EXACT [DOID:0050834, GARD:0000029, icd11.foundation:52086532, Orphanet:138] +synonym: "Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies" RELATED [] +synonym: "CHARGE syndrome" EXACT CLINGEN_LABEL [DOID:0050834, icd11.foundation:52086532, NCIT:C75100, OMIM:214800, Orphanet:138] synonym: "coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies" RELATED [GARD:0000029] synonym: "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association" EXACT [NCIT:C75100] synonym: "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association" EXACT [NCIT:C75100] @@ -189605,15 +189634,15 @@ subset: ordo_disorder {source="Orphanet:1414"} subset: orphanet_rare {source="Orphanet:1414"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Aagenaes syndrome" EXACT [OMIM:214900, Orphanet:1414] -synonym: "Chls" RELATED [OMIM:214900] +synonym: "Aagenaes syndrome" EXACT [DOID:6691, NCIT:C35709, OMIM:214900, Orphanet:1414] +synonym: "Chls" RELATED [] synonym: "cholestasis lymphedema syndrome" RELATED [GARD:0000370] synonym: "cholestasis-edema syndrome, Norwegian type" EXACT [DOID:6691] -synonym: "cholestasis-lymphedema syndrome" RELATED [OMIM:214900] +synonym: "cholestasis-lymphedema syndrome" RELATED [] synonym: "LCS" RELATED ABBREVIATION [GARD:0000370] synonym: "LCS1" RELATED ABBREVIATION [GARD:0000370] synonym: "lymphedema cholestasis syndrome" RELATED [GARD:0000370] -synonym: "lymphedema-cholestasis syndrome" RELATED [OMIM:214900] +synonym: "lymphedema-cholestasis syndrome" RELATED [] xref: DOID:6691 {source="MONDO:equivalentTo"} xref: GARD:370 {source="MONDO:GARD"} xref: ICD10CM:Q82.0 {source="MONDO:relatedTo", source="Orphanet:1414", source="Orphanet:1414/attributed", source="Orphanet:1414/ntbt"} @@ -189645,19 +189674,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "2-methylacyl-CoA racemase deficiency" EXACT [Orphanet:79095] synonym: "Alpha-methyl-acyl-CoA racemase deficiency" EXACT [Orphanet:79095] -synonym: "AMACR deficiency" BROAD [Orphanet:79095] -synonym: "BAS defect type 4" EXACT [Orphanet:79095] +synonym: "AMACR deficiency" BROAD [] +synonym: "BAS defect type 4" EXACT [] synonym: "BASD4" EXACT ABBREVIATION [Orphanet:79095] -synonym: "bile acid synthesis defect, congenital, 4" RELATED [MONDO:Lexical, OMIM:214950] -synonym: "bile acid synthesis defect, congenital, type 4" EXACT [MONDORULE:1, OMIM:214950] +synonym: "bile acid synthesis defect, congenital, 4" RELATED [MONDO:Lexical] +synonym: "bile acid synthesis defect, congenital, type 4" EXACT [MONDORULE:1] synonym: "CBAS4" EXACT ABBREVIATION [DOID:0111068, MONDO:Lexical, OMIM:214950] synonym: "cholestasis, intrahepatic, with defective conversion of" RELATED [GARD:0010046] -synonym: "cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid" RELATED [OMIM:214950] -synonym: "congenital bile acid synthesis defect 4" EXACT CLINGEN_LABEL [Orphanet:79095] -synonym: "congenital bile acid synthesis defect type 4" EXACT [DOID:0111068, MONDORULE:1] +synonym: "cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid" RELATED [] +synonym: "congenital bile acid synthesis defect 4" EXACT CLINGEN_LABEL [DOID:0111068] +synonym: "congenital bile acid synthesis defect type 4" EXACT [MONDORULE:1, Orphanet:79095] synonym: "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid" EXACT [DOID:0111068] synonym: "liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome" EXACT [Orphanet:79095] -synonym: "Trihydroxycoprostanic acid in bile" RELATED [OMIM:214950] +synonym: "Trihydroxycoprostanic acid in bile" RELATED [] synonym: "trihydroxycoprostanic acid in bile" EXACT [DOID:0111068] synonym: "Trihydroxycoprostanic acid to cholic acid" RELATED [GARD:0010046] xref: DOID:0111068 {source="MONDO:equivalentTo"} @@ -189715,7 +189744,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BLC" EXACT ABBREVIATION [Orphanet:50945] synonym: "Blomstrand chondrodysplasia" EXACT [Orphanet:50945] -synonym: "Blomstrand lethal chondrodysplasia" EXACT [DOID:0060387] +synonym: "Blomstrand lethal chondrodysplasia" EXACT [DOID:0060387, Orphanet:50945] synonym: "Blomstrand lethal osteochondrodysplasia" RELATED [GARD:0000914] synonym: "Blomstrand osteochondrodysplasia" EXACT [Orphanet:50945] synonym: "Blomstrand type chondrodysplasia" EXACT [NCIT:C131420] @@ -189763,15 +189792,16 @@ subset: ordo_etiological_subtype {source="Orphanet:309789"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309789"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chondrodysplasia punctata, rhizomelic form" RELATED [OMIM:215100] -synonym: "chondrodystrophia calcificans punctata" RELATED [OMIM:215100] -synonym: "Pbd9" EXACT [DOID:0110851] +synonym: "chondrodysplasia punctata, rhizomelic form" RELATED [] +synonym: "chondrodystrophia calcificans punctata" RELATED [] +synonym: "PBD9" EXACT ABBREVIATION [DOID:0110851] +synonym: "Pbd9" EXACT [] synonym: "peroxisome biogenesis disorder 9" EXACT [DOID:0110851, OMIM:215100] synonym: "PEX7 rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "RCDP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215100] -synonym: "Rcdp1" EXACT [DOID:0110851] +synonym: "RCDP1" EXACT ABBREVIATION [DOID:0110851, OMIM:215100] +synonym: "Rcdp1" EXACT [] synonym: "rhizomelic chondrodysplasia punctata caused by mutation in PEX7" EXACT [MONDO:design_pattern] -synonym: "rhizomelic chondrodysplasia punctata type 1" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] +synonym: "rhizomelic chondrodysplasia punctata type 1" EXACT CLINGEN_LABEL [DOID:0110851, https://www.clinicalgenome.org/affiliation/40049/, icd11.foundation:44503513, Orphanet:309789] synonym: "rhizomelic chondrodysplasia punctata, type 1" EXACT [MONDO:Lexical, OMIM:215100] xref: DOID:0110851 {source="MONDO:equivalentTo"} xref: GARD:6049 {source="MONDO:GARD"} @@ -189803,8 +189833,8 @@ subset: ordo_disorder {source="Orphanet:79347"} subset: ordo_malformation_syndrome {source="Orphanet:79347"} subset: orphanet_rare {source="Orphanet:79347"} subset: rare -synonym: "chondrodysplasia punctata syndrome" RELATED [OMIM:215105] -synonym: "Toriello-Higgins-Miller syndrome" EXACT [Orphanet:79347] +synonym: "chondrodysplasia punctata syndrome" RELATED [] +synonym: "Toriello-Higgins-Miller syndrome" EXACT [icd11.foundation:1167798993, Orphanet:79347] xref: GARD:16716 {source="MONDO:GARD"} xref: ICD10CM:Q77.3 {source="Orphanet:79347", source="Orphanet:79347/attributed", source="Orphanet:79347/ntbt"} xref: icd11.foundation:1167798993 {source="MONDO:equivalentTo"} @@ -189827,19 +189857,19 @@ subset: orphanet_rare {source="Orphanet:1426"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive lethal chondrodystrophy with congenital hydrops" RELATED [GARD:0008754] -synonym: "chondrodystrophy, hydropic and prenatally lethal type" RELATED [OMIM:215140] -synonym: "GRBGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215140] -synonym: "Greenberg dysplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:215140] +synonym: "chondrodystrophy, hydropic and prenatally lethal type" RELATED [] +synonym: "GRBGD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Greenberg dysplasia" EXACT CLINGEN_LABEL [DOID:0111588, icd11.foundation:1858458540, MONDO:Lexical, OMIM:215140, Orphanet:1426] synonym: "Greenberg skeletal dysplasia" RELATED [GARD:0008754] synonym: "hem" RELATED [GARD:0008754] -synonym: "hem dysplasia" EXACT [Orphanet:1426] -synonym: "hem skeletal dysplasia" RELATED [OMIM:215140] +synonym: "hem dysplasia" EXACT [DOID:0111588, Orphanet:1426] +synonym: "hem skeletal dysplasia" RELATED [] synonym: "hem/Greenberg dysplasia" RELATED [GARD:0008754] synonym: "hydrops, ectopic calcification, moth-eaten skeletal dysplasia" RELATED [GARD:0008754] -synonym: "hydrops-ectopic calcification-moth-eaten skeletal dysplasia" RELATED [OMIM:215140] -synonym: "hydrops-ectopic calcification-motheaten syndrome" EXACT [Orphanet:1426] -synonym: "moth-eaten skeletal dysplasia" RELATED [OMIM:215140] -synonym: "skeletal dysplasia, Greenberg type" EXACT [Orphanet:1426] +synonym: "hydrops-ectopic calcification-moth-eaten skeletal dysplasia" RELATED [] +synonym: "hydrops-ectopic calcification-motheaten syndrome" EXACT [DOID:0111588, Orphanet:1426] +synonym: "moth-eaten skeletal dysplasia" RELATED [] +synonym: "skeletal dysplasia, Greenberg type" EXACT [DOID:0111588, Orphanet:1426] xref: DOID:0111588 {source="MONDO:equivalentTo"} xref: GARD:8754 {source="MONDO:GARD"} xref: ICD10CM:Q77.3 {source="Orphanet:1426", source="Orphanet:1426/attributed", source="Orphanet:1426/ntbt"} @@ -189875,11 +189905,11 @@ synonym: "Insley-Astley syndrome" RELATED [GARD:0004130] synonym: "Nance Sweeney chondrodysplasia" RELATED [GARD:0004130] synonym: "Nance-Insley syndrome" EXACT [DOID:0080026] synonym: "Nance-Sweeney chondrodysplasia" EXACT [DOID:0080026] -synonym: "OSMED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:215150, Orphanet:1427] +synonym: "OSMED" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:1427] synonym: "OSMED syndrome" RELATED [GARD:0004130] synonym: "oto-spondylo-mega-epiphyseal dysplasia" RELATED [GARD:0004130] -synonym: "otospondylmegaepiphyseal dysplasia" EXACT [OMIMPS:184840] -synonym: "otospondylomegaepiphyseal dysplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:215150] +synonym: "otospondylmegaepiphyseal dysplasia" EXACT [] +synonym: "otospondylomegaepiphyseal dysplasia" EXACT CLINGEN_LABEL [icd11.foundation:1885284987, MONDO:Lexical, OMIMPS:184840, Orphanet:1427] xref: DOID:0080026 {source="MONDO:equivalentTo"} xref: GARD:4130 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:1427/attributed", source="Orphanet:1427/ntbt", source="Orphanet:1427"} @@ -189918,12 +189948,12 @@ subset: ordo_disorder {source="Orphanet:55880"} subset: orphanet_rare {source="Orphanet:55880"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chondrosarcoma" EXACT [MONDO:ambiguous, NCIT:C2946, OMIM:215300] +synonym: "chondrosarcoma" EXACT [DOID:3371, MONDO:ambiguous, NCIT:C2946, OMIM:215300, Orphanet:55880] synonym: "chondrosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "chondrosarcoma of bone" NARROW [DOID:3371] +synonym: "chondrosarcoma of bone" NARROW [] synonym: "chondrosarcoma, malignant" EXACT [NCIT:C2946] -synonym: "chondrosarcoma, somatic mutation" EXACT [OMIM:215300, OMIM:genemap2] -synonym: "primary chondrosarcoma of the bone" RELATED [DOID:3371] +synonym: "chondrosarcoma, somatic mutation" EXACT [] +synonym: "primary chondrosarcoma of the bone" RELATED [] xref: DOID:3371 {source="MONDO:equivalentTo", source="EFO:0000333"} xref: EFO:0000333 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6055 {source="MONDO:GARD"} @@ -189963,14 +189993,14 @@ subset: ordo_disorder {source="Orphanet:178"} subset: orphanet_rare {source="Orphanet:178"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CHDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215400] -synonym: "chordoma" EXACT [MONDO:ambiguous, NCIT:C2947] +synonym: "CHDM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "chordoma" EXACT [DOID:3302, icd11.foundation:898231522, MONDO:ambiguous, NCIT:C2947, Orphanet:178] synonym: "chordoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "chordoma, malignant" EXACT [NCIT:C2947] -synonym: "chordoma, susceptibility to" RELATED [MONDO:Lexical, OMIM:215400] +synonym: "chordoma, susceptibility to" RELATED [MONDO:Lexical] synonym: "notochordal sarcoma" EXACT [Orphanet:178] synonym: "notochordoma" EXACT [DOID:3302] -synonym: "susceptibility to chordoma" RELATED [OMIM:215400] +synonym: "susceptibility to chordoma" RELATED [] xref: DOID:3302 {source="MONDO:equivalentTo"} xref: GARD:1303 {source="MONDO:GARD"} xref: HP:0010762 {source="MONDO:otherHierarchy"} @@ -190024,8 +190054,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ataxia - hypogonadism - choroidal dystrophy" RELATED [GARD:0000944] synonym: "BNHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:215470] -synonym: "Boucher-Neuhauser syndrome" EXACT [MONDO:Lexical, OMIM:215470] -synonym: "Boucher-Neuhchäuser syndrome" EXACT [Orphanet:1180] +synonym: "Boucher-Neuhauser syndrome" EXACT [DOID:0111265, MONDO:Lexical, OMIM:215470] +synonym: "Boucher-Neuhchäuser syndrome" EXACT [] synonym: "Boucher-Neuhäuser syndrome" EXACT [Orphanet:1180] synonym: "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism" EXACT [GARD:0000944] synonym: "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy" EXACT [OMIM:215470] @@ -190051,8 +190081,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:1313"} subset: orphanet_rare {source="Orphanet:1313"} subset: rare -synonym: "choroid plexus calcification and intellectual disability" RELATED [OMIM:215480] -synonym: "choroid plexus calcification and mental retardation" RELATED DEPRECATED [OMIM:215480] +synonym: "choroid plexus calcification and intellectual disability" RELATED [] +synonym: "choroid plexus calcification and mental retardation" RELATED DEPRECATED [] synonym: "choroid plexus calcification with intellectual disability" RELATED [GARD:0001313] synonym: "choroid plexus calcification with mental retardation" RELATED DEPRECATED [GARD:0001313] synonym: "Choroido-cerebral calcification syndrome with retardation" RELATED [GARD:0001313] @@ -190081,11 +190111,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "areolar atrophy of the macula" EXACT [Orphanet:75377] synonym: "CACD" EXACT ABBREVIATION [Orphanet:75377] -synonym: "CACD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:215500] +synonym: "CACD1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "central areolar choroidal sclerosis" EXACT [Orphanet:75377] synonym: "choroidal dystrophy" EXACT [MONDO:0000013] synonym: "choroidal dystrophy central areolar" RELATED [GARD:0010049] -synonym: "choroidal dystrophy, central areolar, 1" RELATED [MONDO:Lexical, OMIM:215500] +synonym: "choroidal dystrophy, central areolar, 1" RELATED [MONDO:Lexical] xref: GARD:10049 {source="MONDO:GARD"} xref: ICD10CM:H31.2 {source="Orphanet:75377", source="Orphanet:75377/ntbt", source="Orphanet:75377/inclusion"} xref: icd11.foundation:2018537024 {source="MONDO:equivalentTo"} @@ -190118,7 +190148,7 @@ subset: gard_rare {source="GARD:1360", source="MONDO:GARD"} subset: rare synonym: "ciliary discoordination due to random ciliary orientation" EXACT [OMIM:215518] synonym: "ciliary discoordination, due to random ciliary orientation" RELATED [GARD:0001360] -synonym: "Rutland ciliary disorientation syndrome" RELATED [OMIM:215518] +synonym: "Rutland ciliary disorientation syndrome" RELATED [] xref: GARD:1360 {source="MONDO:GARD"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:83299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -190172,19 +190202,19 @@ subset: orphanet_rare {source="Orphanet:247525"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "argininosuccinate synthase deficiency" EXACT [Orphanet:247525] -synonym: "argininosuccinate synthetase deficiency" EXACT [OMIM:215700, Orphanet:247525] +synonym: "argininosuccinate synthetase deficiency" EXACT [NCIT:C150601, OMIM:215700, Orphanet:247525] synonym: "argininosuccinic acid synthase deficiency" EXACT [Orphanet:247525] synonym: "argininosuccinic acid synthetase deficiency" EXACT [Orphanet:247525] -synonym: "ASS deficiency" EXACT [Orphanet:247525] -synonym: "citrullinemia" BROAD [OMIM:215700, OMIM:genemap2] +synonym: "ASS deficiency" EXACT [OMIM:215700, Orphanet:247525] +synonym: "citrullinemia" BROAD [] synonym: "citrullinemia 1" RELATED [GARD:0006114] synonym: "citrullinemia type 1" EXACT [Orphanet:247525] -synonym: "citrullinemia type I" EXACT CLINGEN_LABEL [] -synonym: "citrullinemia, classic" RELATED [OMIM:215700] -synonym: "citrullinemia, type 1" RELATED [OMIM:215700] -synonym: "Citrullinuria" RELATED [OMIM:215700] -synonym: "classic citrullinemia" EXACT [Orphanet:247525] -synonym: "CTLN1" EXACT ABBREVIATION [Orphanet:247525] +synonym: "citrullinemia type I" EXACT CLINGEN_LABEL [NCIT:C150601, Orphanet:247525] +synonym: "citrullinemia, classic" RELATED [] +synonym: "citrullinemia, type 1" RELATED [] +synonym: "Citrullinuria" RELATED [] +synonym: "classic citrullinemia" EXACT [DOID:0070340, Orphanet:247525] +synonym: "CTLN1" EXACT ABBREVIATION [NCIT:C150601, Orphanet:247525] synonym: "CTNL1" RELATED ABBREVIATION [GARD:0006114] xref: DOID:0070340 {source="MONDO:equivalentTo"} xref: GARD:6114 {source="MONDO:GARD"} @@ -190226,7 +190256,7 @@ subset: rare synonym: "cleft larynx, posterior" EXACT [GARD:0004015, OMIM:215800] synonym: "laryngotracheoesophageal cleft pulmonary hypoplasia" RELATED [GARD:0004015] synonym: "Novak syndrome" RELATED [GARD:0004015] -synonym: "stridor, congenital" RELATED [OMIM:215800] +synonym: "stridor, congenital" RELATED [] xref: GARD:4015 {source="MONDO:GARD"} xref: MEDGEN:349091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:215800 {source="GARD:0004015", source="MONDO:equivalentTo"} @@ -190248,9 +190278,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cleft limb heart malformation syndrome" RELATED [GARD:0005482] synonym: "cleft lip-limb and heart malformations syndrome" EXACT [Orphanet:3429] -synonym: "cleft-limb-heart malformation syndrome" RELATED [OMIM:215850] -synonym: "cleft-limb-heart malformation syndrome syndrome" EXACT [Orphanet:3429] -synonym: "Clh syndrome" RELATED [OMIM:215850] +synonym: "cleft-limb-heart malformation syndrome" RELATED [] +synonym: "cleft-limb-heart malformation syndrome syndrome" EXACT [] +synonym: "Clh syndrome" RELATED [] synonym: "Verloove Vanhorick Brubakk syndrome" RELATED [GARD:0005482] xref: GARD:5482 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3429/attributed", source="Orphanet:3429/ntbt", source="Orphanet:3429"} @@ -190274,11 +190304,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2319"} subset: orphanet_rare {source="Orphanet:2319"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cleft LIP/palate with abnormal thumbs and microcephaly" RELATED [OMIM:216100] +synonym: "cleft LIP/palate with abnormal thumbs and microcephaly" RELATED [] synonym: "cleft lip/palate-abnormal thumbs-microcephaly syndrome" EXACT [Orphanet:2319] synonym: "JHS" RELATED ABBREVIATION [GARD:0003060] -synonym: "Juberg-Hayward syndrome" EXACT [OMIM:216100] -synonym: "Orocraniodigital Syndrome" EXACT [NORD:1531] +synonym: "Juberg-Hayward syndrome" EXACT [icd11.foundation:395922030, OMIM:216100, Orphanet:2319] +synonym: "Orocraniodigital Syndrome" EXACT [NORD:1531, OMIM:216100, Orphanet:2319] synonym: "Orocraniodigital syndrome" EXACT [OMIM:216100, Orphanet:2319] xref: GARD:3060 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:2319", source="Orphanet:2319/attributed", source="Orphanet:2319/ntbt"} @@ -190305,7 +190335,7 @@ subset: orphanet_rare {source="Orphanet:2010"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cleft palate stapes fixation oligodontia" RELATED [GARD:0001393] -synonym: "cleft palate, deafness, and oligodontia" RELATED [OMIM:216300] +synonym: "cleft palate, deafness, and oligodontia" RELATED [] xref: GARD:1393 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2010/attributed", source="Orphanet:2010/ntbt", source="Orphanet:2010"} xref: MEDGEN:347795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -190345,14 +190375,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:3472"} subset: orphanet_rare {source="Orphanet:3472"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia" RELATED [OMIM:216340] -synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" EXACT [DOID:0060589] +synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia" RELATED [] +synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" EXACT [DOID:0060589, OMIM:216340] synonym: "cleidocranial dysplasia-micrognathia-absent thumbs syndrome" EXACT [DOID:0060589, Orphanet:3472] synonym: "Yunis Varon Syndrome" EXACT [NORD:1875] synonym: "Yunis Varon syndrome" EXACT [GARD:0000331] -synonym: "Yunis-Varon syndrome" EXACT [MONDO:Lexical, OMIM:216340] +synonym: "Yunis-Varon syndrome" EXACT [DOID:0060589, icd11.foundation:1696991249, MONDO:Lexical, OMIM:216340, Orphanet:3472] synonym: "Yunis-Varón syndrome" EXACT [GARD:0000331] -synonym: "YVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216340] +synonym: "YVS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0060589 {source="MONDO:equivalentTo"} xref: GARD:331 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="DOID:0060589", source="Orphanet:3472/attributed", source="Orphanet:3472/ntbt", source="Orphanet:3472"} @@ -190399,10 +190429,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:90324"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cockayne syndrome type 3" EXACT [GARD:0001417] +synonym: "Cockayne syndrome type 3" EXACT [GARD:0001417, icd11.foundation:1401163130, Orphanet:90324] synonym: "Cockayne syndrome type C" RELATED [GARD:0001417] synonym: "Cockayne syndrome type III" EXACT [Orphanet:90324] -synonym: "Cockayne syndrome, type III" RELATED [OMIM:216411] +synonym: "Cockayne syndrome, type III" RELATED [] xref: GARD:1417 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:90324/attributed", source="Orphanet:90324/ntbt", source="Orphanet:90324"} xref: icd11.foundation:1401163130 {source="MONDO:equivalentTo"} @@ -190426,14 +190456,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:193"} subset: orphanet_rare {source="Orphanet:193"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Chs1" RELATED [OMIM:216550] -synonym: "Chs1, formerly" RELATED [OMIM:216550] -synonym: "Coh" RELATED [OMIM:216550] -synonym: "COH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216550] -synonym: "Cohen syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:216550] -synonym: "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness" EXACT [OMIM:216550] -synonym: "hypotonia, obesity, and prominent incisors" RELATED [OMIM:216550] -synonym: "pepper syndrome" RELATED [OMIM:216550] +synonym: "Chs1" RELATED [] +synonym: "Chs1, formerly" RELATED [] +synonym: "Coh" RELATED [] +synonym: "COH1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Cohen syndrome" EXACT CLINGEN_LABEL [DOID:0111590, icd11.foundation:1188737383, MONDO:Lexical, OMIM:216550, Orphanet:193] +synonym: "cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness" EXACT [] +synonym: "hypotonia, obesity, and prominent incisors" RELATED [] +synonym: "pepper syndrome" RELATED [] xref: DOID:0111590 {source="MONDO:equivalentTo"} xref: GARD:6126 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:193", source="Orphanet:193/attributed", source="Orphanet:193/ntbt"} @@ -190468,9 +190498,9 @@ subset: ordo_disorder {source="Orphanet:79147"} subset: orphanet_rare {source="Orphanet:79147"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "collagenosis, familial reactive perforating" RELATED [MONDO:Lexical, OMIM:216700] +synonym: "collagenosis, familial reactive perforating" RELATED [MONDO:Lexical] synonym: "inherited reactive perforating collagenosis" RELATED [GARD:0013331] -synonym: "RPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216700] +synonym: "RPC" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:13331 {source="MONDO:GARD"} xref: ICD10CM:L87.1 {source="Orphanet:79147/attributed", source="Orphanet:79147/ntbt", source="Orphanet:79147"} xref: icd11.foundation:563155724 {source="MONDO:equivalentTo"} @@ -190494,7 +190524,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:91494"} subset: orphanet_rare {source="Orphanet:91494"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "coloboma of macula and skeletal anomalies" RELATED [OMIM:216800] +synonym: "coloboma of macula and skeletal anomalies" RELATED [] xref: GARD:16802 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:91494", source="Orphanet:91494/attributed", source="Orphanet:91494/ntbt"} xref: MEDGEN:341812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -190523,17 +190553,17 @@ def: "Achromatopsia 2 is a condition that affects the color vision. Most people subset: gard_rare {source="GARD:9649", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ACHM2" EXACT ABBREVIATION [DOID:0110007, MONDO:Lexical, OMIM:216900] -synonym: "achromatopsia 2" EXACT [MONDO:Lexical, OMIM:216900] +synonym: "ACHM2" EXACT ABBREVIATION [DOID:0110007, MONDO:Lexical, NCIT:C168757, OMIM:216900] +synonym: "achromatopsia 2" EXACT [DOID:0110007, MONDO:Lexical, NCIT:C168757, OMIM:216900] synonym: "achromatopsia caused by mutation in CNGA3" EXACT [MONDO:design_pattern] -synonym: "achromatopsia type 2" EXACT [DOID:0110007, MONDORULE:1, OMIM:216900] +synonym: "achromatopsia type 2" EXACT [MONDORULE:1] synonym: "CNGA3 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "colorblindness, total" RELATED [OMIM:216900] +synonym: "colorblindness, total" RELATED [] synonym: "RMCH2" EXACT ABBREVIATION [DOID:0110007] -synonym: "Rod monochromacy 2" RELATED [OMIM:216900] -synonym: "rod monochromacy 2" EXACT [DOID:0110007] -synonym: "Rod monochromatism 2" RELATED [OMIM:216900] -synonym: "rod monochromatism 2" EXACT [DOID:0110007] +synonym: "Rod monochromacy 2" RELATED [] +synonym: "rod monochromacy 2" EXACT [DOID:0110007, OMIM:216900] +synonym: "Rod monochromatism 2" RELATED [] +synonym: "rod monochromatism 2" EXACT [DOID:0110007, OMIM:216900] xref: DOID:0110007 {source="MONDO:equivalentTo"} xref: GARD:9649 {source="MONDO:GARD"} xref: MEDGEN:387867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -190565,8 +190595,8 @@ name: complement component C1r/C1s deficiency def: "Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae." [NCIT:C119991] subset: gard_rare {source="GARD:15155", source="MONDO:GARD"} subset: rare -synonym: "C1r/C1s deficiency" RELATED [OMIM:216950] -synonym: "complement component C1r/C1s deficiency" EXACT [OMIM:216950] +synonym: "C1r/C1s deficiency" RELATED [] +synonym: "complement component C1r/C1s deficiency" EXACT [icd11.foundation:448435460, OMIM:216950] xref: GARD:15155 {source="MONDO:GARD"} xref: icd11.foundation:448435460 {source="MONDO:equivalentTo"} xref: MEDGEN:461624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -190586,9 +190616,9 @@ def: "Complement component 2 deficiency (C2D) is a genetic condition that affect subset: gard_rare {source="GARD:1452", source="MONDO:GARD"} subset: rare synonym: "C2 complement deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "C2 deficiency" RELATED [OMIM:217000] -synonym: "C2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217000] -synonym: "complement component 2 deficiency" EXACT [MONDO:Lexical, OMIM:217000] +synonym: "C2 deficiency" RELATED [] +synonym: "C2D" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "complement component 2 deficiency" EXACT [DOID:0060295, MONDO:Lexical, OMIM:217000] synonym: "complement deficiency caused by mutation in C2" EXACT [MONDO:design_pattern] xref: DOID:0060295 {source="MONDO:equivalentTo"} xref: GARD:1452 {source="MONDO:GARD"} @@ -190619,11 +190649,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1873"} subset: orphanet_rare {source="Orphanet:1873"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cone rod dystrophy-amelogenesis imperfecta syndrome" EXACT [Orphanet:1873] +synonym: "cone rod dystrophy-amelogenesis imperfecta syndrome" EXACT [DOID:0111404, Orphanet:1873] synonym: "cone-rod dystrophy amelogenesis imperfecta" RELATED [GARD:0001463] -synonym: "cone-rod dystrophy and amelogenesis imperfecta" RELATED [OMIM:217080] +synonym: "cone-rod dystrophy and amelogenesis imperfecta" RELATED [] synonym: "cone-rod dystrophy with amelogenesis imperfecta" RELATED [GARD:0001463] -synonym: "Jalili syndrome" EXACT CLINGEN_LABEL [GARD:0001463, OMIM:217080] +synonym: "Jalili syndrome" EXACT CLINGEN_LABEL [DOID:0111404, GARD:0001463, OMIM:217080, Orphanet:1873] xref: DOID:0111404 {source="MONDO:equivalentTo"} xref: GARD:1463 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:1873/attributed", source="Orphanet:1873/ntbt", source="MONDO:relatedTo", source="Orphanet:1873"} @@ -190650,12 +190680,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:1338"} subset: orphanet_rare {source="Orphanet:1338"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CHDTHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217085] -synonym: "congenital heart defects, hamartomas of tongue, and polysyndactyly" RELATED [MONDO:Lexical, OMIM:217085] +synonym: "CHDTHP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "congenital heart defects, hamartomas of tongue, and polysyndactyly" RELATED [MONDO:Lexical] synonym: "heart defect - tongue hamartoma - polysyndactyly syndrome" EXACT CLINGEN_LABEL [] synonym: "heart defect, tongue hamartoma and polysyndactyly" RELATED [GARD:0002612] synonym: "Orstavik Lindemann Solberg syndrome" RELATED [GARD:0004166] -synonym: "Ostravik-Lindemann-Solberg syndrome" EXACT [Orphanet:1338] +synonym: "Ostravik-Lindemann-Solberg syndrome" EXACT [DOID:0111591, Orphanet:1338] xref: DOID:0111591 {source="MONDO:equivalentTo"} xref: GARD:4166 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1338", source="Orphanet:1338/attributed", source="Orphanet:1338/ntbt"} @@ -190679,11 +190709,11 @@ subset: ordo_disorder {source="Orphanet:722"} subset: orphanet_rare {source="Orphanet:722"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypoplasminogenemia" EXACT CLINGEN_LABEL [] -synonym: "ligneous conjunctivitis" RELATED [https://orcid.org/0000-0001-9310-0163, OMIM:217090] +synonym: "hypoplasminogenemia" EXACT CLINGEN_LABEL [DOID:0111592, Orphanet:722] +synonym: "ligneous conjunctivitis" RELATED [https://orcid.org/0000-0001-9310-0163] synonym: "plasminogen deficiency type 1" EXACT [https://orcid.org/0000-0001-9310-0163, Orphanet:722] synonym: "plasminogen deficiency, type 1" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:217090] -synonym: "plasminogen deficiency, type I" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:217090] +synonym: "plasminogen deficiency, type I" EXACT [https://orcid.org/0000-0001-9310-0163] synonym: "type 1 plasminogen deficiency" EXACT [GARD:0004380, https://orcid.org/0000-0001-9310-0163] xref: DOID:0111592 {source="MONDO:equivalentTo"} xref: GARD:4380 {source="MONDO:GARD"} @@ -190758,7 +190788,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2215"} subset: orphanet_rare {source="Orphanet:2215"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "contractures, congenital, torticollis, and malignant hyperthermia" RELATED [OMIM:217150] +synonym: "contractures, congenital, torticollis, and malignant hyperthermia" RELATED [] synonym: "froster-Iskenius-Waterson syndrome" RELATED [GARD:0003361] synonym: "froster-Iskenius-Waterson-Hall syndrome" EXACT [Orphanet:2215] synonym: "malignant hyperthermia - arthrogryposis - torticollis" RELATED [GARD:0003361] @@ -190792,11 +190822,11 @@ name: cornea plana 2 def: "Any cornea plana in which the cause of the disease is a mutation in the KERA gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18050", source="MONDO:GARD"} subset: rare -synonym: "CNA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217300] -synonym: "cornea plana 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:217300] -synonym: "cornea plana 2, autosomal recessive" RELATED [OMIM:217300] +synonym: "CNA2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "cornea plana 2" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "cornea plana 2, autosomal recessive" RELATED [] synonym: "cornea plana caused by mutation in KERA" EXACT [MONDO:design_pattern] -synonym: "cornea plana type 2" EXACT [MONDORULE:1, OMIM:217300] +synonym: "cornea plana type 2" EXACT [MONDORULE:1] synonym: "KERA cornea plana" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18050 {source="MONDO:GARD"} xref: MEDGEN:346616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -190820,14 +190850,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:1490"} subset: orphanet_rare {source="Orphanet:1490"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217400, Orphanet:1490] -synonym: "Cdpd1" RELATED [OMIM:217400] +synonym: "CDPD" EXACT ABBREVIATION [DOID:0111620, MONDO:Lexical, OMIM:217400, Orphanet:1490] +synonym: "Cdpd1" RELATED [] synonym: "congenital corneal dystrophy, progressive sensorineural deafness" RELATED [GARD:0001529] -synonym: "corneal dystrophy and perceptive deafness" RELATED [MONDO:Lexical, OMIM:217400] -synonym: "corneal dystrophy and sensorineural deafness" RELATED [OMIM:217400] -synonym: "corneal dystrophy with progressive deafness" EXACT [Orphanet:1490] -synonym: "corneal endothelial dystrophy and perceptive deafness" EXACT [OMIM:217400, OMIM:genemap2] -synonym: "Harboyan syndrome" EXACT [OMIM:217400, Orphanet:1490] +synonym: "corneal dystrophy and perceptive deafness" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy and sensorineural deafness" RELATED [] +synonym: "corneal dystrophy with progressive deafness" EXACT [DOID:0111620, Orphanet:1490] +synonym: "corneal endothelial dystrophy and perceptive deafness" EXACT [DOID:0111620] +synonym: "Harboyan syndrome" EXACT [DOID:0111620, OMIM:217400, Orphanet:1490] xref: DOID:0111620 {source="MONDO:equivalentTo"} xref: GARD:1529 {source="MONDO:GARD"} xref: ICD10CM:H18.5 {source="Orphanet:1490/attributed", source="Orphanet:1490/ntbt", source="Orphanet:1490"} @@ -190850,9 +190880,9 @@ def: "The deposition of calcium on the cornea, resulting in pain and decreased v subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "band keratopathy" EXACT [OMIM:217500] -synonym: "band-shaped keratopathy" EXACT [DOID:11164, ICD9CM:371.43] -synonym: "corneal dystrophy, band-SHAPED" RELATED [OMIM:217500] +synonym: "band keratopathy" EXACT [DOID:11164, icd11.foundation:184627034, NCIT:C118765, OMIM:217500] +synonym: "band-shaped keratopathy" EXACT [DOID:11164, icd11.foundation:184627034, ICD9CM:371.43] +synonym: "corneal dystrophy, band-SHAPED" RELATED [] xref: DOID:11164 {source="MONDO:equivalentTo"} xref: ICD10CM:H18.42 {source="DOID:11164"} xref: icd11.foundation:184627034 {source="MONDO:equivalentTo"} @@ -190888,7 +190918,7 @@ synonym: "CCDF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217600, Orphanet:98972] synonym: "central cloudy corneal dystrophy of François" EXACT [Orphanet:98972] synonym: "central cloudy dystrophy of Francois" EXACT [MONDO:Lexical, OMIM:217600] synonym: "central cloudy dystrophy of François" EXACT [Orphanet:98972] -synonym: "corneal dystrophy, central type" RELATED [OMIM:217600] +synonym: "corneal dystrophy, central type" RELATED [] xref: GARD:16881 {source="MONDO:GARD"} xref: ICD10CM:H18.5 {source="Orphanet:98972", source="Orphanet:98972/attributed", source="Orphanet:98972/ntbt"} xref: MEDGEN:302006 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -190912,23 +190942,23 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive CHED" EXACT [Orphanet:293603] synonym: "autosomal recessive congenital hereditary endothelial dystrophy" EXACT [Orphanet:293603] -synonym: "CHED" EXACT ABBREVIATION [DOID:0060649, MESH:C536439] -synonym: "CHED2" EXACT ABBREVIATION [GARD:0006196, MONDO:Lexical, OMIM:217700, Orphanet:293603] +synonym: "CHED" EXACT ABBREVIATION [DOID:0060649, MESH:C536439, OMIM:217700] +synonym: "CHED2" EXACT ABBREVIATION [GARD:0006196, MONDO:Lexical, Orphanet:293603] synonym: "CHED2, formerly" RELATED [MESH:C536439] synonym: "CHEDII" EXACT ABBREVIATION [Orphanet:293603] -synonym: "congenital hereditary endothelial dystrophy of cornea" EXACT [MESH:C536439, OMIM:217700] +synonym: "congenital hereditary endothelial dystrophy of cornea" EXACT [DOID:0060649, MESH:C536439, OMIM:217700] synonym: "congenital hereditary endothelial dystrophy of the cornea" RELATED [GARD:0006196, MESH:C536439] synonym: "congenital hereditary endothelial dystrophy type 2" EXACT [Orphanet:293603] -synonym: "congenital hereditary endothelial dystrophy type II" RELATED [Orphanet:293603] -synonym: "corneal dystrophy, congenital hereditary endothelial" RELATED [GARD:0006196, MESH:C536439, OMIM:217700] -synonym: "corneal endothelial dystrophy" RELATED [MESH:C536439, OMIM:217700] +synonym: "congenital hereditary endothelial dystrophy type II" RELATED [] +synonym: "corneal dystrophy, congenital hereditary endothelial" RELATED [GARD:0006196, MESH:C536439] +synonym: "corneal endothelial dystrophy" RELATED [MESH:C536439] synonym: "corneal endothelial dystrophy 2" RELATED [MESH:C536439] -synonym: "corneal endothelial dystrophy 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:217700] +synonym: "corneal endothelial dystrophy 2, autosomal recessive" RELATED [MONDO:Lexical] synonym: "corneal endothelial dystrophy 2, autosomal recessive, formerly" RELATED [MESH:C536439] synonym: "corneal endothelial dystrophy type 2" RELATED [GARD:0006196] -synonym: "corneal endothelial dystrophy, autosomal recessive" EXACT [OMIM:217700, OMIM:genemap2] +synonym: "corneal endothelial dystrophy, autosomal recessive" EXACT [] synonym: "infantile hereditary endothelial dystrophy" EXACT [Orphanet:293603] -synonym: "Maumenee corneal dystrophy" RELATED EXCLUDE [Orphanet:293603] +synonym: "Maumenee corneal dystrophy" RELATED EXCLUDE [] xref: DOID:0060649 {source="MONDO:equivalentTo"} xref: GARD:6196 {source="MONDO:GARD"} xref: ICD10CM:H18.5 {source="Orphanet:293603/attributed", source="Orphanet:293603/ntbt", source="Orphanet:293603"} @@ -190955,20 +190985,20 @@ subset: orphanet_rare {source="Orphanet:98969"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "corneal dystrophy Groenouw type II" EXACT [Orphanet:98969] -synonym: "corneal dystrophy, macular type" RELATED [OMIM:217800] +synonym: "corneal dystrophy, macular type" RELATED [] synonym: "Fehr corneal dystrophy" EXACT [DOID:2565, Orphanet:98969] -synonym: "Groenouw type 2 corneal dystrophy" RELATED [OMIM:217800] +synonym: "Groenouw type 2 corneal dystrophy" RELATED [] synonym: "Groenouw type II corneal dystrophy" RELATED [GARD:0006953] -synonym: "macular corneal dystrophy" EXACT CLINGEN_LABEL [] +synonym: "macular corneal dystrophy" EXACT CLINGEN_LABEL [DOID:2565, ICD10CM:H18.55, icd11.foundation:791344343, NCIT:C34793, Orphanet:98969] synonym: "macular corneal dystrophy type 1" RELATED [GARD:0006953] -synonym: "macular corneal dystrophy, type 1" RELATED [OMIM:217800] -synonym: "macular corneal dystrophy, type 2" RELATED [OMIM:217800] -synonym: "macular dystrophy, corneal" RELATED [MONDO:Lexical, OMIM:217800] +synonym: "macular corneal dystrophy, type 1" RELATED [] +synonym: "macular corneal dystrophy, type 2" RELATED [] +synonym: "macular dystrophy, corneal" RELATED [MONDO:Lexical] synonym: "macular dystrophy, corneal type 1" RELATED [GARD:0006953] synonym: "macular dystrophy, corneal, 1" EXACT [DOID:2565] synonym: "MCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:217800, Orphanet:98969] -synonym: "Mcdc1" RELATED [OMIM:217800] -synonym: "Mcdc1, formerly" RELATED [OMIM:217800] +synonym: "Mcdc1" RELATED [] +synonym: "Mcdc1, formerly" RELATED [] xref: DOID:2565 {source="MONDO:equivalentTo"} xref: GARD:6953 {source="MONDO:GARD"} xref: ICD10CM:H18.5 {source="Orphanet:98969", source="Orphanet:98969/attributed", source="Orphanet:98969/ntbt"} @@ -191003,8 +191033,8 @@ subset: rare synonym: "agenesis of corpus callosum with facial anomalies and Robin sequence" RELATED [GARD:0005225] synonym: "corpus callosum agenesis facial anomalies Robin sequence" RELATED [GARD:0005225] synonym: "corpus callosum agenesis-blepharophimosis-Robin sequence syndrome" EXACT [Orphanet:3338] -synonym: "corpus callosum, agenesis of, with facial anomalies and ROBIN sequence" RELATED [OMIM:217980] -synonym: "Toriello-Carey syndrome" EXACT [OMIM:217980] +synonym: "corpus callosum, agenesis of, with facial anomalies and ROBIN sequence" RELATED [] +synonym: "Toriello-Carey syndrome" EXACT [icd11.foundation:147297969, OMIM:217980, Orphanet:3338] xref: GARD:5225 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3338", source="Orphanet:3338/attributed", source="Orphanet:3338/ntbt"} xref: icd11.foundation:147297969 {source="MONDO:equivalentTo"} @@ -191022,7 +191052,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5225/toriell id: MONDO:0009022 name: corpus callosum, agenesis of def: "A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment." [NCIT:C98905] -synonym: "ACC" RELATED ABBREVIATION [OMIM:217990] +synonym: "ACC" RELATED ABBREVIATION [] synonym: "agenesis of corpus callosum" EXACT [NCIT:C98905] synonym: "agenesis of the corpus callosum" RELATED [GARD:0001535] synonym: "corpus callosum agenesis" EXACT [NCIT:C98905] @@ -191054,7 +191084,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1389"} subset: orphanet_rare {source="Orphanet:1389"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cortical blindness, retardation, and postaxial polydactyly" RELATED [OMIM:218010] +synonym: "cortical blindness, retardation, and postaxial polydactyly" RELATED [] xref: GARD:1548 {source="MONDO:GARD"} xref: MEDGEN:347487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565674 {source="MONDO:equivalentTo"} @@ -191081,18 +191111,18 @@ subset: orphanet_rare {source="Orphanet:320"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "11 Beta-hydroxysteroid dehydrogenase type 2 deficiency" EXACT [NCIT:C131083] -synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 2" EXACT [DOID:0090121, Orphanet:320] -synonym: "AME" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218030] +synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 2" EXACT [DOID:4367, Orphanet:320] +synonym: "AME" RELATED ABBREVIATION [MONDO:Lexical] synonym: "AME 1" RELATED [GARD:0000433] -synonym: "Ame1" RELATED [OMIM:218030] -synonym: "APE" EXACT ABBREVIATION [DOID:0090121] -synonym: "apparent mineralocorticoid EXCESS" RELATED [OMIM:218030] -synonym: "apparent mineralocorticoid excess" EXACT [MONDO:Lexical, OMIM:218030] -synonym: "apparent mineralocorticoid excess syndrome" EXACT [MONDO:0006657] -synonym: "cortisol 11-Beta-ketoreductase deficiency" RELATED [OMIM:218030] -synonym: "cortisol 11-beta-ketoreductase deficiency" EXACT [DOID:0090121] -synonym: "syndrome of apparent mineralocorticoid Excess" EXACT [NCIT:C123231] -synonym: "Ulick syndrome" EXACT [DOID:0090121, Orphanet:320] +synonym: "Ame1" RELATED [] +synonym: "APE" EXACT ABBREVIATION [] +synonym: "apparent mineralocorticoid EXCESS" RELATED [] +synonym: "apparent mineralocorticoid excess" EXACT [icd11.foundation:1737310323, MONDO:Lexical, NCIT:C131083, OMIM:218030, Orphanet:320] +synonym: "apparent mineralocorticoid excess syndrome" EXACT [DOID:4367, MONDO:0006657] +synonym: "cortisol 11-Beta-ketoreductase deficiency" RELATED [] +synonym: "cortisol 11-beta-ketoreductase deficiency" EXACT [DOID:4367, OMIM:218030] +synonym: "syndrome of apparent mineralocorticoid Excess" EXACT [DOID:4367, NCIT:C123231] +synonym: "Ulick syndrome" EXACT [DOID:4367, Orphanet:320] xref: DOID:0090121 {source="MONDO:equivalentObsolete"} xref: DOID:4367 {source="EFO:1000817", source="MONDO:equivalentTo"} xref: GARD:433 {source="MONDO:GARD"} @@ -191132,12 +191162,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:3071"} subset: orphanet_rare {source="Orphanet:3071"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital myopathy with excess of muscle spindles" EXACT [OMIM:218040, OMIM:genemap2] -synonym: "Costello syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:218040] -synonym: "CSTLO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218040] +synonym: "congenital myopathy with excess of muscle spindles" EXACT [] +synonym: "Costello syndrome" EXACT CLINGEN_LABEL [DOID:0050469, icd11.foundation:1946512039, MONDO:Lexical, NCIT:C84652, OMIM:218040, Orphanet:3071] +synonym: "CSTLO" RELATED ABBREVIATION [MONDO:Lexical] synonym: "faciocutaneoskeletal syndrome" EXACT [DOID:0050469, OMIM:218040, Orphanet:3071] -synonym: "FCS syndrome" EXACT [DOID:0050469, Orphanet:3071] -synonym: "myopathy, congenital, with excess of muscle spindles" RELATED [OMIM:218040] +synonym: "FCS syndrome" EXACT [DOID:0050469, OMIM:218040, Orphanet:3071] +synonym: "myopathy, congenital, with excess of muscle spindles" RELATED [] xref: DOID:0050469 {source="MONDO:equivalentTo"} xref: GARD:1550 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3071", source="Orphanet:3071/attributed", source="Orphanet:3071/ntbt"} @@ -191190,8 +191220,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1512"} subset: orphanet_rare {source="Orphanet:1512"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus" RELATED [OMIM:218090] -synonym: "Crane-Heise syndrome" EXACT [OMIM:218090] +synonym: "cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus" RELATED [] +synonym: "Crane-Heise syndrome" EXACT [OMIM:218090, Orphanet:1512] xref: GARD:8428 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:1512", source="Orphanet:1512/attributed", source="Orphanet:1512/ntbt"} xref: MEDGEN:387847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -191238,8 +191268,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1513"} subset: orphanet_rare {source="Orphanet:1513"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:122860, OMIM:218300] -synonym: "craniodiaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:218300] +synonym: "CDD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "craniodiaphyseal dysplasia" EXACT [DOID:0080032, icd11.foundation:505073582, MONDO:Lexical, NCIT:C131429, OMIM:218300, Orphanet:1513] synonym: "Lionitis" EXACT [NCIT:C131429] xref: DOID:0080032 {source="MONDO:equivalentTo"} xref: GARD:1567 {source="MONDO:GARD"} @@ -191273,9 +191303,9 @@ subset: orphanet_rare {source="Orphanet:1515"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CED" EXACT ABBREVIATION [Orphanet:1515] -synonym: "cranioectodermal dysplasia" EXACT [DOID:0050577] +synonym: "cranioectodermal dysplasia" EXACT [DOID:0050577, icd11.foundation:1588881145, NCIT:C129305, OMIMPS:218330, Orphanet:1515] synonym: "Levin syndrome" EXACT [DOID:0050577] -synonym: "Sensenbrenner syndrome" EXACT [MONDO:0000362, Orphanet:1515] +synonym: "Sensenbrenner syndrome" EXACT [DOID:0050577, icd11.foundation:1588881145, MONDO:0000362, NCIT:C129305, Orphanet:1515] xref: DOID:0050577 {source="MONDO:equivalentTo"} xref: GARD:359 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:1515/attributed", source="Orphanet:1515/ntbt", source="Orphanet:1515"} @@ -191308,14 +191338,14 @@ subset: orphanet_rare {source="Orphanet:1777"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" RELATED [GARD:0005688] -synonym: "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" EXACT [Orphanet:1777] +synonym: "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" EXACT [DOID:0111621, Orphanet:1777] synonym: "Dysmorphism, corpus callosum agenesis and colobomas" RELATED [GARD:0005688] -synonym: "intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum" RELATED [OMIM:218340] -synonym: "mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum" RELATED DEPRECATED [OMIM:218340] -synonym: "TEMTAMY syndrome" RELATED [OMIM:218340] -synonym: "temtamy syndrome" EXACT [MONDO:Lexical, OMIM:218340] -synonym: "Temtamy-Shalash syndrome" EXACT [Orphanet:1777] -synonym: "TEMTYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218340] +synonym: "intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum" RELATED [] +synonym: "mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum" RELATED DEPRECATED [] +synonym: "TEMTAMY syndrome" RELATED [] +synonym: "temtamy syndrome" EXACT [DOID:0111621, MONDO:Lexical, NCIT:C148371, OMIM:218340, Orphanet:1777] +synonym: "Temtamy-Shalash syndrome" EXACT [DOID:0111621, Orphanet:1777] +synonym: "TEMTYS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111621 {source="MONDO:equivalentTo"} xref: GARD:5688 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1777", source="Orphanet:1777/attributed", source="Orphanet:1777/ntbt"} @@ -191344,9 +191374,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1516"} subset: orphanet_rare {source="Orphanet:1516"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bilateral lambdoid and sagittal synostosis" RELATED [OMIM:218350] +synonym: "bilateral lambdoid and sagittal synostosis" RELATED [] synonym: "craniofacial dyssynostosis and short stature" RELATED [GARD:0001575] -synonym: "craniofacial dyssynostosis with short stature" RELATED [OMIM:218350] +synonym: "craniofacial dyssynostosis with short stature" RELATED [] synonym: "craniosynostosis-craniofacial dysostosis syndrome" RELATED [GARD:0001575] xref: GARD:1575 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:1516", source="Orphanet:1516/attributed", source="Orphanet:1516/ntbt"} @@ -191365,8 +191395,8 @@ def: "Autosomal recessive form of craniometaphyseal dysplasia." [MONDO:patterns/ subset: gard_rare {source="GARD:1582", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive craniometaphyseal dysplasia" EXACT [MONDO:design_pattern] -synonym: "CMDR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218400] +synonym: "autosomal recessive craniometaphyseal dysplasia" EXACT [DOID:0080802, MONDO:design_pattern] +synonym: "CMDR" RELATED ABBREVIATION [MONDO:Lexical] synonym: "craniometaphyseal dysplasia, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:218400] synonym: "craniometaphyseal dysplasia, autosomal recessive type" RELATED [GARD:0001582] xref: DOID:0080802 {source="MONDO:equivalentTo"} @@ -191396,13 +191426,13 @@ subset: orphanet_rare {source="Orphanet:2872"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cardiocranial syndrome" RELATED [GARD:0008586] -synonym: "craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis" RELATED [OMIM:218450] +synonym: "craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis" RELATED [] synonym: "craniosynostosis-congenital heart disease-intellectual disability syndrome" EXACT [Orphanet:2872] -synonym: "Pfeiffer Cardiocranial syndrome" RELATED [OMIM:218450] +synonym: "Pfeiffer Cardiocranial syndrome" RELATED [] synonym: "Pfeiffer Singer Zschiesche syndrome" RELATED [GARD:0008586] synonym: "Pfeiffer-Singer-Zschiesche syndrome" EXACT [Orphanet:2872] synonym: "Pfeiffer-type cardiocranial syndrome" RELATED [GARD:0008586] -synonym: "sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis" EXACT [Orphanet:2872] +synonym: "sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis" EXACT [] xref: GARD:8586 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2872", source="Orphanet:2872/attributed", source="Orphanet:2872/ntbt"} xref: icd11.foundation:629231429 {source="MONDO:equivalentTo"} @@ -191437,8 +191467,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:1533"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "craniosynostosis with fibular aplasia" RELATED [OMIM:218550] -synonym: "Lowry syndrome" EXACT [Orphanet:1533] +synonym: "craniosynostosis with fibular aplasia" RELATED [] +synonym: "Lowry syndrome" EXACT [] xref: ICD10CM:Q87.2 {source="Orphanet:1533", source="Orphanet:1533/attributed", source="Orphanet:1533/ntbt"} xref: MEDGEN:347468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565665 {source="MONDO:equivalentTo"} @@ -191461,11 +191491,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1225"} subset: orphanet_rare {source="Orphanet:1225"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BALLER-Gerold syndrome" RELATED [OMIM:218600] -synonym: "Baller-Gerold syndrome" EXACT [MONDO:Lexical, OMIM:218600] -synonym: "BGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:218600] -synonym: "craniosynostosis with radial defects" RELATED [OMIM:218600] -synonym: "craniosynostosis-radial aplasia syndrome" RELATED [OMIM:218600] +synonym: "BALLER-Gerold syndrome" RELATED [] +synonym: "Baller-Gerold syndrome" EXACT [DOID:0050654, icd11.foundation:1650688177, MONDO:Lexical, OMIM:218600, Orphanet:1225] +synonym: "BGS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "craniosynostosis with radial defects" RELATED [] +synonym: "craniosynostosis-radial aplasia syndrome" RELATED [] xref: DOID:0050654 {source="MONDO:equivalentTo"} xref: GARD:1602 {source="MONDO:GARD"} xref: ICD10CM:Q75.0 {source="Orphanet:1225", source="Orphanet:1225/attributed", source="Orphanet:1225/ntbt"} @@ -191490,8 +191520,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1602/baller- [Term] id: MONDO:0009040 name: craniosynostosis-intellectual disability syndrome of 51N and Gettig -synonym: "craniosynostosis-intellectual disability syndrome of Lin and Gettig" RELATED [GARD:0010282, OMIM:218649] -synonym: "craniosynostosis-mental retardation syndrome of Lin and Gettig" RELATED DEPRECATED [OMIM:218649] +synonym: "craniosynostosis-intellectual disability syndrome of Lin and Gettig" RELATED [GARD:0010282] +synonym: "craniosynostosis-mental retardation syndrome of Lin and Gettig" RELATED DEPRECATED [] synonym: "Lin-Gettig syndrome" RELATED [GARD:0010282] xref: MEDGEN:341781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565664 {source="MONDO:equivalentTo"} @@ -191508,7 +191538,7 @@ synonym: "craniosynostosis intellectual disability clefting syndrome" RELATED [G synonym: "craniosynostosis mental retardation clefting syndrome" RELATED DEPRECATED [GARD:0001599] synonym: "craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose" RELATED [GARD:0000817] synonym: "craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose" RELATED DEPRECATED [GARD:0000817] -synonym: "craniosynostosis-intellectual disability-clefting syndrome" EXACT [OMIM:218650] +synonym: "craniosynostosis-intellectual disability-clefting syndrome" EXACT [] synonym: "craniosynostosis-mental retardation-clefting syndrome" EXACT DEPRECATED [OMIM:218650] xref: MEDGEN:387829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537906 {source="MONDO:equivalentTo"} @@ -191535,7 +191565,7 @@ subset: orphanet_rare {source="Orphanet:1528"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Complex of anomalies involving the cranium and brain" RELATED [GARD:0001605] -synonym: "craniotelencephalic dysplasia" EXACT [OMIM:218670] +synonym: "craniotelencephalic dysplasia" EXACT [icd11.foundation:1684038717, OMIM:218670, Orphanet:1528] xref: GARD:1605 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:1528/attributed", source="Orphanet:1528/ntbt", source="Orphanet:1528"} xref: icd11.foundation:1684038717 {source="MONDO:equivalentTo"} @@ -191559,9 +191589,9 @@ subset: gard_rare {source="GARD:301", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness-thyroid hormone resistance syndrome" NARROW [Orphanet:3221] +synonym: "deafness-thyroid hormone resistance syndrome" NARROW [] synonym: "GRTH" EXACT ABBREVIATION [PMID:8475937] -synonym: "Refetoff syndrome" EXACT [Orphanet:3221] +synonym: "Refetoff syndrome" EXACT [] xref: GARD:301 {source="MONDO:GARD"} xref: ICD10CM:E07.8 {source="Orphanet:3221", source="Orphanet:3221/attributed", source="Orphanet:3221/ntbt"} xref: MEDGEN:1654700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -191580,15 +191610,15 @@ subset: ordo_disorder {source="Orphanet:205"} subset: orphanet_rare {source="Orphanet:205"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bilirubin UDP glucuronyl transferase deficiency" EXACT [DOID:3803] -synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency" EXACT [Orphanet:205] -synonym: "bilirubin-UGT deficiency" EXACT [Orphanet:205] -synonym: "Crigler Najjar Syndrome" EXACT [NORD:1016] +synonym: "bilirubin UDP glucuronyl transferase deficiency" EXACT [DOID:3803, icd11.foundation:291439191] +synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency" EXACT [icd11.foundation:291439191, Orphanet:205] +synonym: "bilirubin-UGT deficiency" EXACT [icd11.foundation:291439191, Orphanet:205] +synonym: "Crigler Najjar Syndrome" EXACT [DOID:3803, NORD:1016] synonym: "Crigler Najjar syndrome" EXACT [DOID:3803] -synonym: "Crigler-Najjar syndrome" EXACT [OMIM:218800] -synonym: "Crigler-Najjar syndrome, type I" RELATED EXCLUDE [DOID:3803] -synonym: "hereditary unconjugated hyperbilirubinemia" EXACT [Orphanet:205] -synonym: "UGT deficiency" EXACT [Orphanet:205] +synonym: "Crigler-Najjar syndrome" EXACT [DOID:3803, ICD10CM:E80.5, icd11.foundation:291439191, NCIT:C84656, Orphanet:205] +synonym: "Crigler-Najjar syndrome, type I" RELATED EXCLUDE [] +synonym: "hereditary unconjugated hyperbilirubinemia" EXACT [] +synonym: "UGT deficiency" EXACT [icd11.foundation:291439191] xref: DOID:3803 {source="MONDO:equivalentTo"} xref: GARD:16526 {source="MONDO:GARD"} xref: ICD10CM:E80.5 {source="MONDO:equivalentTo", source="Orphanet:205/e", source="Orphanet:205/specific"} @@ -191648,11 +191678,11 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "cryptophthalmos syndrome" RELATED [GARD:0006465] -synonym: "cryptophthalmos with Other malformations" RELATED [OMIM:219000] +synonym: "cryptophthalmos with Other malformations" RELATED [] synonym: "cryptophthalmos with other malformations" EXACT [DOID:0090001] -synonym: "cryptophthalmos-syndactyly syndrome" EXACT [OMIM:219000, Orphanet:2052] +synonym: "cryptophthalmos-syndactyly syndrome" EXACT [NCIT:C118436, Orphanet:2052] synonym: "cyclopism" RELATED [GARD:0006465] -synonym: "Fraser syndrome" EXACT CLINGEN_LABEL [OMIM:219000] +synonym: "Fraser syndrome" EXACT CLINGEN_LABEL [DOID:0090001, icd11.foundation:968262849, NCIT:C118436, OMIMPS:219000, Orphanet:2052] synonym: "Fraser-Francois syndrome" RELATED [GARD:0006465] synonym: "Meyer-Schwickerath's syndrome" RELATED [GARD:0006465] synonym: "Ulrich-Feichtiger syndrome" RELATED [GARD:0006465] @@ -191682,14 +191712,14 @@ id: MONDO:0009047 name: cryptorchidism def: "The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "cryptorchidism" EXACT [MONDO:ambiguous] +synonym: "cryptorchidism" EXACT [DOID:11383, icd11.foundation:1134950387, MONDO:ambiguous, NCIT:C12326] synonym: "cryptorchidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "cryptorchidism, unilateral or bilateral" RELATED [OMIM:219050] +synonym: "cryptorchidism, unilateral or bilateral" RELATED [] synonym: "cryptorchism" EXACT [DOID:11383] synonym: "undescended testes" EXACT [NCIT:C12326] -synonym: "undescended testicle" EXACT [DOID:11383] -synonym: "undescended testicles" EXACT [DOID:11383, NCIT:C12326] -synonym: "undescended testis" EXACT [DOID:11383, ICD9CM:752.51, OMIM:219050] +synonym: "undescended testicle" EXACT [DOID:11383, icd11.foundation:1134950387, NCIT:C12326] +synonym: "undescended testicles" EXACT [DOID:11383] +synonym: "undescended testis" EXACT [DOID:11383, ICD9CM:752.51, NCIT:C12326, OMIM:219050] xref: DOID:11383 {source="EFO:0004562", source="MONDO:equivalentTo"} xref: EFO:0004562 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0000028 {source="MONDO:otherHierarchy"} @@ -191719,7 +191749,7 @@ property_value: IAO:0000589 "cryptorchidism (disease)" xsd:string [Term] id: MONDO:0009048 name: curved nail of fourth toe -synonym: "claw-like fingers and toes" RELATED [OMIM:219070] +synonym: "claw-like fingers and toes" RELATED [] synonym: "curved nail of fourth toe" EXACT [OMIM:219070] xref: MEDGEN:347457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:219070 {source="MONDO:equivalentTo"} @@ -191738,13 +191768,13 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "ACTH-independent Cushing syndrome" BROAD [MESH:C565662] -synonym: "ACTH-independent macronodular adrenocortical hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080, Orphanet:189427] -synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080] +synonym: "ACTH-independent macronodular adrenocortical hyperplasia" RELATED [GARD:0010824, MESH:C565662] +synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662] synonym: "AIMAH" RELATED ABBREVIATION [GARD:0010824, MESH:C565662] -synonym: "corticotropin-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080] +synonym: "corticotropin-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662] synonym: "massive macronodular adrenocortical disease" RELATED [GARD:0010824] synonym: "MMAD" RELATED ABBREVIATION [GARD:0010824] -synonym: "primary bilateral macronodular adrenal hyperplasia" EXACT [Orphanet:189427] +synonym: "primary bilateral macronodular adrenal hyperplasia" EXACT [] synonym: "primary macronodular adrenal hyperplasia" RELATED [GARD:0010824] xref: DOID:0111622 {source="MONDO:equivalentTo"} xref: EFO:0009041 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -191772,18 +191802,18 @@ subset: ordo_disorder {source="Orphanet:96253"} subset: orphanet_rare {source="Orphanet:96253"} subset: rare synonym: "ACTH producing pituitary adenoma" EXACT [NCIT:C113210] -synonym: "ACTH-producing pituitary adenoma" RELATED EXCLUDE [DOID:7004] -synonym: "ACTH-secreting pituitary adenoma" RELATED [DOID:7004] -synonym: "corticotroph adenoma" RELATED [DOID:7004, MONDO:patterns/location] -synonym: "corticotroph pituitary adenoma" EXACT [Orphanet:96253] -synonym: "Corticotropinoma" RELATED [DOID:7004, NCIT:C7462] +synonym: "ACTH-producing pituitary adenoma" RELATED EXCLUDE [] +synonym: "ACTH-secreting pituitary adenoma" RELATED [] +synonym: "corticotroph adenoma" RELATED [MONDO:patterns/location] +synonym: "corticotroph pituitary adenoma" EXACT [icd11.foundation:380861892, Orphanet:96253] +synonym: "Corticotropinoma" RELATED [] synonym: "Cushing disease" RELATED [GARD:0012867] synonym: "Cushing disease, pituitary" EXACT [OMIM:219090] synonym: "Cushing's disease" RELATED [GARD:0012867] synonym: "PITA4" EXACT ABBREVIATION [OMIM:219090] synonym: "pituitary adenoma 4, ACTH-secreting" EXACT [OMIM:219090] -synonym: "pituitary adenoma 4, ACTH-secreting, somatic" EXACT [OMIM:219090, OMIM:genemap2] -synonym: "pituitary adenoma, ACTH-secreting" EXACT [OMIM:219090] +synonym: "pituitary adenoma 4, ACTH-secreting, somatic" EXACT [] +synonym: "pituitary adenoma, ACTH-secreting" EXACT [] synonym: "pituitary corticotroph micro-adenoma" EXACT [Orphanet:96253] synonym: "pituitary dependent Cushing syndrome" EXACT [GARD:0012867] synonym: "pituitary-dependent Cushing syndrome" EXACT [Orphanet:96253] @@ -191820,7 +191850,7 @@ subset: gard_rare {source="GARD:1633", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:2881"} subset: orphanet_rare {source="Orphanet:2881"} subset: rare -synonym: "cutaneous photosensitivity and colitis, lethal" RELATED [OMIM:219095] +synonym: "cutaneous photosensitivity and colitis, lethal" RELATED [] synonym: "early cutaneous photosensitivity and severe colitis" RELATED [GARD:0001633] xref: GARD:1633 {source="MONDO:GARD"} xref: ICD10CM:L57.8 {source="Orphanet:2881", source="Orphanet:2881/ntbt"} @@ -191838,11 +191868,11 @@ def: "An autosomal recessive cutis laxa type I that has material basis in homozy subset: gard_rare {source="GARD:15157", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ARCL1" BROAD ABBREVIATION [OMIM:219100] +synonym: "ARCL1" BROAD ABBREVIATION [] synonym: "ARCL1A" EXACT ABBREVIATION [DOID:0070135, MONDO:Lexical, OMIM:219100] -synonym: "autosomal recessive cutis laxa type IA" RELATED [DOID:0070135] -synonym: "cutis laxa, autosomal recessive" RELATED [OMIM:219100] -synonym: "cutis laxa, autosomal recessive, type IA" RELATED [MONDO:Lexical, OMIM:219100] +synonym: "autosomal recessive cutis laxa type IA" RELATED [] +synonym: "cutis laxa, autosomal recessive" RELATED [] +synonym: "cutis laxa, autosomal recessive, type IA" RELATED [MONDO:Lexical] xref: DOID:0070135 {source="MONDO:equivalentTo"} xref: GARD:15157 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="DOID:0070135"} @@ -191870,17 +191900,17 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:35664"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ARCL3A" EXACT ABBREVIATION [DOID:0070132, MONDO:Lexical, OMIM:219150] -synonym: "autosomal recessive cutis laxa type IIIA" RELATED [DOID:0070132] -synonym: "cutis laxa, autosomal recessive, type 3A" RELATED [OMIM:219150] -synonym: "cutis laxa, autosomal recessive, type IIIA" RELATED [MONDO:Lexical, OMIM:219150] -synonym: "cutis laxa, corneal clouding, and intellectual disability" RELATED [OMIM:219150] -synonym: "cutis laxa, corneal clouding, and mental retardation" RELATED DEPRECATED [OMIM:219150] +synonym: "autosomal recessive cutis laxa type IIIA" RELATED [] +synonym: "cutis laxa, autosomal recessive, type 3A" RELATED [] +synonym: "cutis laxa, autosomal recessive, type IIIA" RELATED [MONDO:Lexical] +synonym: "cutis laxa, corneal clouding, and intellectual disability" RELATED [] +synonym: "cutis laxa, corneal clouding, and mental retardation" RELATED DEPRECATED [] synonym: "De Barsy syndrome A" EXACT [DOID:0070132] -synonym: "De Barsy syndrome a" RELATED [OMIM:219150] +synonym: "De Barsy syndrome a" RELATED [] synonym: "Delta-1-pyrroline 5-carboxylate synthetase deficiency" EXACT [Orphanet:35664] synonym: "neurocutaneous syndrome, Bicknell type" EXACT [Orphanet:35664] -synonym: "P5CS deficiency" BROAD [Orphanet:35664] -synonym: "progeroid syndrome of De Barsy" RELATED [OMIM:219150] +synonym: "P5CS deficiency" BROAD [] +synonym: "progeroid syndrome of De Barsy" RELATED [] xref: DOID:0070132 {source="MONDO:equivalentTo"} xref: GARD:16638 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="DOID:0070132"} @@ -191905,14 +191935,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:357074"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Arcl2" RELATED [OMIM:219200] +synonym: "Arcl2" RELATED [] synonym: "ARCL2, classic type" EXACT [DOID:0070141, Orphanet:357074] -synonym: "ARCL2, Debre type" EXACT [DOID:0070141, Orphanet:357074] +synonym: "ARCL2, Debre type" EXACT [DOID:0070141] synonym: "ARCL2, Debré type" EXACT [Orphanet:357074] -synonym: "ARCL2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:219200] -synonym: "autosomal recessive cutis laxa type 2, Debre type" EXACT [Orphanet:357074] +synonym: "ARCL2A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "autosomal recessive cutis laxa type 2, Debre type" EXACT [] synonym: "autosomal recessive cutis laxa type 2, Debré type" EXACT [Orphanet:357074] -synonym: "autosomal recessive cutis laxa type II classic type" RELATED [DOID:0070141] +synonym: "autosomal recessive cutis laxa type II classic type" RELATED [] xref: DOID:0070141 {source="MONDO:equivalentTo"} xref: GARD:17546 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="DOID:0070141", source="DOID:0070136", source="Orphanet:357074/attributed", source="Orphanet:357074/ntbt", source="Orphanet:357074"} @@ -191938,7 +191968,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1556"} subset: orphanet_rare {source="Orphanet:1556"} subset: rare synonym: "CMTC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:219250, Orphanet:1556] -synonym: "cutis marmorata telangiectatica congenita" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:219250] +synonym: "cutis marmorata telangiectatica congenita" EXACT [icd11.foundation:1359154853, MONDO:ambiguous, MONDO:Lexical, OMIM:219250, Orphanet:1556] synonym: "cutis marmorata telangiectatica congenita (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hereditary cutis marmorata telangiectatica congenita" RELATED [GARD:0006228] synonym: "Van Lohuizen syndrome" RELATED [GARD:0006228] @@ -191960,10 +191990,10 @@ property_value: IAO:0000589 "cutis marmorata telangiectatica congenita (disease) [Term] id: MONDO:0009056 name: cutis verticis gyrata and intellectual disability -synonym: "cutis verticis gyrata and intellectual disability" EXACT [MONDO:Lexical, OMIM:219300] +synonym: "cutis verticis gyrata and intellectual disability" EXACT [MONDO:Lexical] synonym: "cutis verticis gyrata and mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:219300] -synonym: "cutis verticis gyrata-intellectual disability syndrome" EXACT [Orphanet:1557] -synonym: "CVG/MR" RELATED DEPRECATED [MONDO:Lexical, OMIM:219300] +synonym: "cutis verticis gyrata-intellectual disability syndrome" EXACT [] +synonym: "CVG/MR" RELATED DEPRECATED [MONDO:Lexical] xref: MEDGEN:387821 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:219300 {source="MONDO:equivalentTo"} xref: Orphanet:1557 {source="OMIM:219300", source="MONDO:equivalentObsolete"} @@ -191992,11 +192022,11 @@ subset: orphanet_rare {source="Orphanet:212"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cystathionase deficiency" EXACT [DOID:0090142, OMIM:219500, Orphanet:212] -synonym: "Cystathione gamma-lyase deficiency syndrome" EXACT [Orphanet:212] +synonym: "Cystathione gamma-lyase deficiency syndrome" EXACT [DOID:0090142] synonym: "cystathione gamma-lyase deficiency syndrome" EXACT [DOID:0090142] -synonym: "cystathioninuria" EXACT CLINGEN_LABEL [MONDO:ambiguous, OMIM:219500] +synonym: "cystathioninuria" EXACT CLINGEN_LABEL [DOID:0090142, icd11.foundation:1415819835, MONDO:ambiguous, NCIT:C129070, OMIM:219500, Orphanet:212] synonym: "cystathioninuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "gamma-cystathionase deficiency" EXACT [DOID:0090142, Orphanet:212] +synonym: "gamma-cystathionase deficiency" EXACT [DOID:0090142, icd11.foundation:1415819835, Orphanet:212] xref: DOID:0090142 {source="MONDO:equivalentTo"} xref: GARD:2428 {source="MONDO:GARD"} xref: HP:0003153 {source="MONDO:otherHierarchy"} @@ -192047,10 +192077,10 @@ subset: orphanet_rare {source="Orphanet:586"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CF" EXACT ABBREVIATION [DOID:1485, MONDO:Lexical, OMIM:219700, Orphanet:586] -synonym: "cystic fibrosis" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:219700] -synonym: "cystic fibrosis lung disease, modifier of" EXACT [OMIM:219700, OMIM:genemap2] -synonym: "mucoviscidosis" EXACT [DOID:1485, OMIM:219700, Orphanet:586] -synonym: "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis" EXACT [OMIM:219700, OMIM:genemap2] +synonym: "cystic fibrosis" EXACT CLINGEN_LABEL [DOID:1485, ICD10CM:E84, icd11.foundation:514403112, MONDO:Lexical, NCIT:C2975, OMIM:219700, Orphanet:586] +synonym: "cystic fibrosis lung disease, modifier of" EXACT [] +synonym: "mucoviscidosis" EXACT [DOID:1485, ICD10CM:E84, icd11.foundation:514403112, OMIM:219700, Orphanet:586] +synonym: "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis" EXACT [] xref: DOID:1485 {source="MONDO:equivalentTo"} xref: GARD:6233 {source="MONDO:GARD"} xref: ICD10CM:E84 {source="DOID:1485", source="MONDO:equivalentTo"} @@ -192099,8 +192129,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cystic fibrosis gastritis megaloblastic anaemia" RELATED OMO:0003005 [] synonym: "cystic fibrosis gastritis megaloblastic anemia" RELATED [GARD:0003303] -synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability" RELATED [OMIM:219721] -synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation" RELATED DEPRECATED [OMIM:219721] +synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability" RELATED [] +synonym: "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation" RELATED DEPRECATED [] synonym: "cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies" RELATED [GARD:0003303] synonym: "Lubani Al Saleh Teebi syndrome" RELATED [GARD:0003303] synonym: "Lubani-Al Saleh-Teebi syndrome" EXACT [Orphanet:2575] @@ -192125,9 +192155,9 @@ subset: ordo_disorder {source="Orphanet:443988"} subset: orphanet_rare {source="Orphanet:443988"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital nephrosis-cerebral ventriculomegaly syndrome" EXACT [Orphanet:443988] -synonym: "ventriculomegaly with cystic kidney disease" RELATED [MONDO:Lexical, OMIM:219730] -synonym: "VMCKD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:219730, Orphanet:443988] +synonym: "congenital nephrosis-cerebral ventriculomegaly syndrome" EXACT [DOID:0111625, Orphanet:443988] +synonym: "ventriculomegaly with cystic kidney disease" RELATED [MONDO:Lexical] +synonym: "VMCKD" EXACT ABBREVIATION [DOID:0111625, MONDO:Lexical, OMIM:219730, Orphanet:443988] xref: DOID:0111625 {source="MONDO:equivalentTo"} xref: GARD:17757 {source="MONDO:GARD"} xref: MEDGEN:346584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -192148,11 +192178,11 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:411641"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adult-onset cystinosis" EXACT [Orphanet:411641] -synonym: "cystinosis, ADULT NONNEPHROPATHIC" RELATED [OMIM:219750] -synonym: "cystinosis, benign Nonnephropathic" RELATED [OMIM:219750] -synonym: "cystinosis, ocular Nonnephropathic" RELATED [OMIM:219750] +synonym: "cystinosis, ADULT NONNEPHROPATHIC" RELATED [] +synonym: "cystinosis, benign Nonnephropathic" RELATED [] +synonym: "cystinosis, ocular Nonnephropathic" RELATED [] synonym: "non-nephropathic cystinosis" EXACT [Orphanet:411641] -synonym: "ocular cystinosis" EXACT CLINGEN_LABEL [] +synonym: "ocular cystinosis" EXACT CLINGEN_LABEL [Orphanet:411641] xref: GARD:9756 {source="MONDO:GARD"} xref: ICD10CM:E72.0 {source="Orphanet:411641", source="Orphanet:411641/attributed", source="Orphanet:411641/ntbt"} xref: MEDGEN:419313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -192185,12 +192215,12 @@ subset: gard_rare {source="GARD:17685", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:411634"} subset: rare -synonym: "cystinosis, intermediate" RELATED [OMIM:219900] -synonym: "cystinosis, late-onset juvenile or adolescent nephropathic" EXACT [OMIM:219900, OMIM:genemap2] -synonym: "cystinosis, late-onset juvenile or adolescent nephropathic type" RELATED [OMIM:219900] +synonym: "cystinosis, intermediate" RELATED [] +synonym: "cystinosis, late-onset juvenile or adolescent nephropathic" EXACT [] +synonym: "cystinosis, late-onset juvenile or adolescent nephropathic type" RELATED [] synonym: "intermediate cystinosis" EXACT [Orphanet:411634] synonym: "juvenile cystinosis" EXACT [Orphanet:411634] -synonym: "juvenile nephropathic cystinosis" EXACT CLINGEN_LABEL [] +synonym: "juvenile nephropathic cystinosis" EXACT CLINGEN_LABEL [icd11.foundation:422905632, Orphanet:411634] xref: GARD:17685 {source="MONDO:GARD"} xref: ICD10EXP:E72.0+ {source="Orphanet:411634/attributed", source="Orphanet:411634/ntbt", source="Orphanet:411634"} xref: ICD10EXP:N16.3* {source="Orphanet:411634/attributed", source="Orphanet:411634/ntbt", source="Orphanet:411634"} @@ -192224,20 +192254,20 @@ subset: ordo_disorder {source="Orphanet:214"} subset: orphanet_rare {source="Orphanet:214"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CSNU" RELATED ABBREVIATION [GARD:0006237, OMIM:220100] -synonym: "cystinuria" EXACT CLINGEN_LABEL [MONDO:ambiguous, OMIM:220100] +synonym: "CSNU" RELATED ABBREVIATION [GARD:0006237] +synonym: "cystinuria" EXACT CLINGEN_LABEL [DOID:9266, icd11.foundation:1237620397, MONDO:ambiguous, NCIT:C84664, OMIM:220100, Orphanet:214] synonym: "cystinuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "cystinuria, type a" RELATED [OMIM:220100] -synonym: "cystinuria, type A/B" RELATED [OMIM:220100] -synonym: "cystinuria, type B" RELATED [OMIM:220100] -synonym: "cystinuria, type I" RELATED [OMIM:220100] -synonym: "cystinuria, type I, formerly" RELATED [OMIM:220100] -synonym: "cystinuria, type II" RELATED [OMIM:220100] -synonym: "cystinuria, type II, formerly" RELATED [OMIM:220100] -synonym: "cystinuria, type III" RELATED [OMIM:220100] -synonym: "cystinuria, type III, formerly" RELATED [OMIM:220100] -synonym: "cystinuria, type non-I" RELATED [OMIM:220100] -synonym: "cystinuria, type non-I, formerly" RELATED [OMIM:220100] +synonym: "cystinuria, type a" RELATED [] +synonym: "cystinuria, type A/B" RELATED [] +synonym: "cystinuria, type B" RELATED [] +synonym: "cystinuria, type I" RELATED [] +synonym: "cystinuria, type I, formerly" RELATED [] +synonym: "cystinuria, type II" RELATED [] +synonym: "cystinuria, type II, formerly" RELATED [] +synonym: "cystinuria, type III" RELATED [] +synonym: "cystinuria, type III, formerly" RELATED [] +synonym: "cystinuria, type non-I" RELATED [] +synonym: "cystinuria, type non-I, formerly" RELATED [] synonym: "cystinuria-lysinuria" RELATED [GARD:0006237] synonym: "cystinuria-lysinuria syndrome" EXACT [Orphanet:214] xref: DOID:9266 {source="MONDO:equivalentTo"} @@ -192283,17 +192313,17 @@ subset: rare synonym: "Complex 4 mitochondrial respiratory chain deficiency" RELATED [GARD:0000048] synonym: "Complex IV deficiency" RELATED [GARD:0000048] synonym: "COX deficiency" RELATED [GARD:0000048] -synonym: "Cox deficiency" RELATED [OMIM:220110] -synonym: "Cytochrome C Oxidase Deficiency" EXACT [NORD:1030] -synonym: "cytochrome C oxidase deficiency" RELATED [OMIM:220110] +synonym: "Cox deficiency" RELATED [] +synonym: "Cytochrome C Oxidase Deficiency" EXACT [NCIT:C98910, NORD:1030] +synonym: "cytochrome C oxidase deficiency" RELATED [] synonym: "cytochrome-C oxidase deficiency" EXACT [NCIT:C98910] -synonym: "cytochrome-c oxidase deficiency disease" EXACT CLINGEN_LABEL [] +synonym: "cytochrome-c oxidase deficiency disease" EXACT CLINGEN_LABEL [DOID:3762] synonym: "deficiency of mitochondrial respiratory chain complex4" RELATED [GARD:0000048] synonym: "isolated COX deficiency" EXACT [Orphanet:254905] -synonym: "isolated cytochrome C oxidase deficiency" RELATED [Orphanet:254905] +synonym: "isolated cytochrome C oxidase deficiency" RELATED [] synonym: "isolated mitochondrial respiratory chain complex IV deficiency" EXACT [Orphanet:254905] -synonym: "mitochondrial Complex 4 deficiency" RELATED [OMIM:220110] -synonym: "mitochondrial complex IV deficiency" EXACT [DOID:3762, GARD:0000048, OMIM:220110] +synonym: "mitochondrial Complex 4 deficiency" RELATED [] +synonym: "mitochondrial complex IV deficiency" EXACT [DOID:3762, GARD:0000048, NCIT:C98910] xref: DOID:3762 {source="MONDO:equivalentTo"} xref: GARD:48 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:254905/attributed", source="Orphanet:254905/ntbt", source="Orphanet:254905"} @@ -192322,20 +192352,20 @@ subset: ordo_disorder {source="Orphanet:70472"} subset: orphanet_rare {source="Orphanet:70472"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" EXACT CLINGEN_LABEL [] -synonym: "Cox deficiency, French Canadian type" RELATED [OMIM:220111] +synonym: "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" EXACT CLINGEN_LABEL [Orphanet:70472] +synonym: "Cox deficiency, French Canadian type" RELATED [] synonym: "COX deficiency, French-Canadian type" EXACT [Orphanet:70472] synonym: "Cox deficiency, Saguenay Lac saint Jean type" RELATED [GARD:0008370] -synonym: "Cox deficiency, Saguenay-Lac-Saint-Jean type" RELATED [OMIM:220111] -synonym: "cytochrome C oxidase deficiency, French Canadian type" RELATED [OMIM:220111] +synonym: "Cox deficiency, Saguenay-Lac-Saint-Jean type" RELATED [] +synonym: "cytochrome C oxidase deficiency, French Canadian type" RELATED [] synonym: "cytochrome C oxidase deficiency, French-Canadian type" EXACT [Orphanet:70472] synonym: "cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type" EXACT [Orphanet:70472] -synonym: "Leigh syndrome, French Canadian type" RELATED [MONDO:Lexical, OMIM:220111] +synonym: "Leigh syndrome, French Canadian type" RELATED [MONDO:Lexical] synonym: "Leigh syndrome, French-Canadian type" EXACT [Orphanet:70472] synonym: "Leigh syndrome, Saguenay Lac saint Jean type" RELATED [GARD:0008370] synonym: "Leigh syndrome, Saguenay-Lac-Saint-Jean type" EXACT [OMIM:220111, Orphanet:70472] -synonym: "LSFC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220111] -synonym: "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)" EXACT [OMIM:220111, OMIM:genemap2] +synonym: "LSFC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)" EXACT [] synonym: "SLSJ-COX deficiency" EXACT [Orphanet:70472] xref: DOID:0111180 {source="MONDO:equivalentTo"} xref: GARD:8370 {source="MONDO:GARD"} @@ -192362,11 +192392,11 @@ subset: ordo_disorder {source="Orphanet:941"} subset: orphanet_rare {source="Orphanet:941"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "D-glycerate kinase deficiency" EXACT [Orphanet:941] -synonym: "D-glyceric acidemia" EXACT [OMIM:220120, Orphanet:941] -synonym: "d-glyceric aciduria" EXACT [OMIM:220120] +synonym: "D-glycerate kinase deficiency" EXACT [DOID:0111626, Orphanet:941] +synonym: "D-glyceric acidemia" EXACT [DOID:0111626, OMIM:220120, Orphanet:941] +synonym: "d-glyceric aciduria" EXACT [DOID:0111626, NCIT:C128804, OMIM:220120, Orphanet:941] synonym: "D-glycericacidemia" RELATED [GARD:0000234] -synonym: "glycerate kinase deficiency" RELATED [OMIM:220120] +synonym: "glycerate kinase deficiency" RELATED [] synonym: "non ketotic hyperglycinemia syndrome" RELATED [GARD:0000234] xref: DOID:0111626 {source="MONDO:equivalentTo"} xref: GARD:234 {source="MONDO:GARD"} @@ -192396,9 +192426,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:94088"} subset: orphanet_rare {source="Orphanet:94088"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Dalmatian hypouricemia" RELATED [OMIM:220150] +synonym: "Dalmatian hypouricemia" RELATED [] synonym: "hypouricemia, renal" RELATED [GARD:0009496] -synonym: "renal hypouricemia" RELATED [OMIM:220150] +synonym: "renal hypouricemia" RELATED [] xref: GARD:9496 {source="MONDO:GARD"} xref: icd11.foundation:479364233 {source="MONDO:equivalentTo"} xref: ICD9:790.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -192424,14 +192454,14 @@ subset: rare synonym: "atresia of foramina of Magendie and Luschka" EXACT [DOID:2785] synonym: "Dandy Walker Malformation" EXACT [NORD:1032] synonym: "Dandy-Walker complex" RELATED [GARD:0006242] -synonym: "Dandy-Walker malformation" RELATED [OMIM:220200] -synonym: "Dandy-Walker syndrome" EXACT [MONDO:Lexical, OMIM:220200] +synonym: "Dandy-Walker malformation" RELATED [] +synonym: "Dandy-Walker syndrome" EXACT [DOID:2785, icd11.foundation:993088960, MONDO:Lexical, NCIT:C75012, OMIM:220200] synonym: "Dandy-Walker syndrome or malformation (type of DW complex)" RELATED [GARD:0006242] -synonym: "Dandy-Walker syndrome, Isolated cases" EXACT [OMIM:220200, OMIM:genemap2] +synonym: "Dandy-Walker syndrome, Isolated cases" EXACT [] synonym: "Dandy-Walker variant (type of DW complex)" RELATED [GARD:0006242] synonym: "DW complex" RELATED [GARD:0006242] -synonym: "DWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220200] -synonym: "isolated Dandy-Walker malformation" RELATED [Orphanet:217] +synonym: "DWS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "isolated Dandy-Walker malformation" RELATED [] synonym: "mega cisterna magna (type of DW complex)" RELATED [GARD:0006242] xref: DOID:2785 {source="EFO:1000890", source="MONDO:equivalentTo"} xref: EFO:1000890 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -192462,15 +192492,15 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15160", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "3C syndrome" RELATED [OMIM:220210] -synonym: "Craniocerebellocardiac dysplasia" RELATED [OMIM:220210] -synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" RELATED [OMIM:220210] -synonym: "Ritscher-Schinzel syndrome" RELATED [MONDO:Lexical, OMIM:220210] -synonym: "Ritscher-Schinzel syndrome 1" EXACT [OMIM:220210] +synonym: "3C syndrome" RELATED [] +synonym: "Craniocerebellocardiac dysplasia" RELATED [] +synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" RELATED [] +synonym: "Ritscher-Schinzel syndrome" RELATED [MONDO:Lexical] +synonym: "Ritscher-Schinzel syndrome 1" EXACT [DOID:0060571, OMIM:220210] synonym: "Ritscher-Schinzel syndrome caused by mutation in WASHC5" EXACT [MONDO:design_pattern] -synonym: "Ritscher-Schinzel syndrome type 1" EXACT [DOID:0060571, MONDORULE:1] -synonym: "RTSC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220210] -synonym: "RTSC1" RELATED ABBREVIATION [OMIM:220210] +synonym: "Ritscher-Schinzel syndrome type 1" EXACT [MONDORULE:1] +synonym: "RTSC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "RTSC1" RELATED ABBREVIATION [] synonym: "WASHC5 Ritscher-Schinzel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060571 {source="MONDO:equivalentTo"} xref: GARD:15160 {source="MONDO:GARD"} @@ -192493,8 +192523,8 @@ subset: ordo_disorder {source="Orphanet:1970"} subset: ordo_malformation_syndrome {source="Orphanet:1970"} subset: orphanet_rare {source="Orphanet:1970"} subset: rare -synonym: "Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED [OMIM:220219] -synonym: "Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED DEPRECATED [OMIM:220219] +synonym: "Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED [] +synonym: "Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY" RELATED DEPRECATED [] xref: GARD:2222 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1970", source="Orphanet:1970/attributed", source="Orphanet:1970/ntbt"} xref: MEDGEN:341752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -192519,7 +192549,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1566"} subset: orphanet_rare {source="Orphanet:1566"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Dandy-Walker malformation with postaxial polydactyly" RELATED [OMIM:220220] +synonym: "Dandy-Walker malformation with postaxial polydactyly" RELATED [] synonym: "DWM with postaxial polydactyly" EXACT [OMIM:220220, Orphanet:1566] synonym: "Pierquin syndrome" EXACT [OMIM:220220, Orphanet:1566] xref: GARD:1669 {source="MONDO:GARD"} @@ -192540,21 +192570,21 @@ def: "An autosomal recessive disorder caused by mutations in the GJB2 gene, enco subset: gard_rare {source="GARD:1697", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 1A" NARROW [DOID:0110475] -synonym: "autosomal recessive nonsyndromic deafness 1A" NARROW [OMIM:220290] -synonym: "autosomal recessive nonsyndromic deafness type 1A" NARROW [DOID:0110475, MONDORULE:4] +synonym: "autosomal recessive deafness 1A" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 1A" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 1A" NARROW [MONDORULE:4] synonym: "autosomal recessive nonsyndromic hearing loss 1A" EXACT CLINGEN_LABEL [] synonym: "connexin 26 deafness" NARROW [GARD:0001697] synonym: "deafness nonsyndromic, connexin 26 linked" NARROW [GARD:0001697] -synonym: "deafness, autosomal recessive 1A" NARROW [MONDO:Lexical, OMIM:220290] -synonym: "deafness, autosomal recessive 1a, autosomal recessive, digenic dominant" NARROW [OMIM:220290, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 1A" NARROW [MONDORULE:4, OMIM:220290] -synonym: "deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant" EXACT [OMIM:220290, OMIM:genemap2] -synonym: "deafness, digenic, GJB2/GJB3" NARROW [OMIM:220290] -synonym: "deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant" EXACT [OMIM:220290, OMIM:genemap2] -synonym: "deafness, digenic, GJB2/GJB6" NARROW [OMIM:220290] +synonym: "deafness, autosomal recessive 1A" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive 1a, autosomal recessive, digenic dominant" NARROW [] +synonym: "deafness, autosomal recessive type 1A" NARROW [MONDORULE:4] +synonym: "deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant" EXACT [] +synonym: "deafness, digenic, GJB2/GJB3" NARROW [] +synonym: "deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant" EXACT [] +synonym: "deafness, digenic, GJB2/GJB6" NARROW [] synonym: "DFNB1" NARROW ABBREVIATION [GARD:0001697] -synonym: "DFNB1A" NARROW ABBREVIATION [DOID:0110475, MONDO:Lexical, OMIM:220290] +synonym: "DFNB1A" NARROW ABBREVIATION [MONDO:Lexical] synonym: "GJB2-related deafness" NARROW [GARD:0001697] xref: DOID:0110475 {source="MONDO:equivalentTo"} xref: GARD:1697 {source="MONDO:GARD"} @@ -192602,21 +192632,21 @@ subset: ordo_malformation_syndrome {source="Orphanet:79500"} subset: orphanet_rare {source="Orphanet:79500"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive deafness-onychodystrophy syndrome" EXACT [Orphanet:79500] -synonym: "brachydactyly due to absence of distal phalanges" RELATED [OMIM:220500] +synonym: "autosomal recessive deafness-onychodystrophy syndrome" EXACT [DOID:0111627, Orphanet:79500] +synonym: "brachydactyly due to absence of distal phalanges" RELATED [] synonym: "deafness onychodystrophy osteodystrophy and intellectual disability syndrome" RELATED [GARD:0001685] synonym: "deafness onychodystrophy osteodystrophy and mental retardation syndrome" RELATED DEPRECATED [GARD:0001685] -synonym: "deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome" RELATED [MONDO:Lexical, OMIM:220500] -synonym: "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:220500] -synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" EXACT [Orphanet:79500] -synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" EXACT [Orphanet:79500] -synonym: "deafness-onychoosteodystrophy-intellectual disability syndrome" EXACT [GARD:0001685, Orphanet:79500] -synonym: "Digitorenocerebral syndrome" RELATED [GARD:0001685, OMIM:220500] -synonym: "door syndrome" EXACT [GARD:0001685, OMIM:220500, Orphanet:79500] -synonym: "DOORS" RELATED DEPRECATED [MONDO:Lexical, OMIM:220500] -synonym: "DOORS syndrome" EXACT CLINGEN_LABEL [GARD:0001685] -synonym: "drc syndrome" RELATED [OMIM:220500] -synonym: "Eronen syndrome" RELATED [OMIM:220500] +synonym: "deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome" RELATED [MONDO:Lexical] +synonym: "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome" RELATED DEPRECATED [MONDO:Lexical] +synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" EXACT [DOID:0111627, Orphanet:79500] +synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" EXACT [DOID:0111627, Orphanet:79500] +synonym: "deafness-onychoosteodystrophy-intellectual disability syndrome" EXACT [DOID:0111627, GARD:0001685, Orphanet:79500] +synonym: "Digitorenocerebral syndrome" RELATED [GARD:0001685] +synonym: "door syndrome" EXACT [DOID:0111627, GARD:0001685, OMIM:220500, Orphanet:79500] +synonym: "DOORS" RELATED DEPRECATED [MONDO:Lexical] +synonym: "DOORS syndrome" EXACT CLINGEN_LABEL [DOID:0111627, GARD:0001685, Orphanet:79500] +synonym: "drc syndrome" RELATED [] +synonym: "Eronen syndrome" RELATED [] xref: DOID:0111627 {source="MONDO:equivalentTo"} xref: GARD:1685 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:79500/attributed", source="Orphanet:79500/ntbt", source="Orphanet:79500"} @@ -192651,12 +192681,12 @@ subset: orphanet_rare {source="Orphanet:71271"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital deafness with split hands and feet" EXACT [DOID:0090024] -synonym: "deafness, congenital, with split hands and feet" RELATED [OMIM:220600] +synonym: "deafness, congenital, with split hands and feet" RELATED [] synonym: "SHFM1D" EXACT ABBREVIATION [DOID:0090024, MONDO:Lexical, OMIM:220600] -synonym: "split hand-foot malformation 1 with sensorineural hearing loss" EXACT CLINGEN_LABEL [] -synonym: "split hand-split foot-deafness syndrome" RELATED [Orphanet:71271] -synonym: "split-hand/foot malformation 1 with sensorineural hearing loss" EXACT [OMIM:220600, OMIM:genemap2] -synonym: "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" RELATED [MONDO:Lexical, OMIM:220600] +synonym: "split hand-foot malformation 1 with sensorineural hearing loss" EXACT CLINGEN_LABEL [DOID:0090024] +synonym: "split hand-split foot-deafness syndrome" RELATED [] +synonym: "split-hand/foot malformation 1 with sensorineural hearing loss" EXACT [] +synonym: "split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive" RELATED [MONDO:Lexical] xref: DOID:0090024 {source="MONDO:equivalentTo"} xref: GARD:16686 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:71271/attributed", source="Orphanet:71271/ntbt", source="DOID:0090024", source="Orphanet:71271"} @@ -192703,10 +192733,10 @@ subset: ordo_disorder {source="Orphanet:363396"} subset: orphanet_rare {source="Orphanet:363396"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness and myopia" RELATED [MONDO:Lexical, OMIM:221200] +synonym: "deafness and myopia" RELATED [MONDO:Lexical] synonym: "deafness and myopia syndrome" RELATED [GARD:0012844] -synonym: "DFNMYP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:221200] -synonym: "high myopia-sensorineural deafness syndrome" EXACT CLINGEN_LABEL [] +synonym: "DFNMYP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "high myopia-sensorineural deafness syndrome" EXACT CLINGEN_LABEL [DOID:0111628, Orphanet:363396] xref: DOID:0111628 {source="MONDO:equivalentTo"} xref: GARD:12844 {source="MONDO:GARD"} xref: ICD10CM:H90.5 {source="Orphanet:363396/attributed", source="Orphanet:363396/ntbt", source="Orphanet:363396"} @@ -192732,7 +192762,7 @@ synonym: "conductive deafness - malformed external ear" RELATED [GARD:0001460] synonym: "conductive deafness with malformed external ear" RELATED [GARD:0001460] synonym: "conductive hearing loss and malformed low-set ears" RELATED [GARD:0001460] synonym: "conductive hearing loss-malformed external ear syndrome" EXACT [Orphanet:3216] -synonym: "deafness, conductive, with malformed external EAR" RELATED [OMIM:221300] +synonym: "deafness, conductive, with malformed external EAR" RELATED [] synonym: "Ear deformity and conductive hearing loss" RELATED [GARD:0001460] synonym: "familial congenital moderate neural hearing loss" RELATED [GARD:0001460] synonym: "Mengel-Konigsmark syndrome" EXACT [Orphanet:3216] @@ -192755,7 +192785,7 @@ subset: orphanet_rare {source="Orphanet:3236"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "deafness conductive ptosis skeletal anomalies" RELATED [GARD:0000305] -synonym: "deafness, conductive, with ptosis and skeletal anomalies" RELATED [OMIM:221320] +synonym: "deafness, conductive, with ptosis and skeletal anomalies" RELATED [] synonym: "Jackson Barr syndrome" RELATED [GARD:0000305] synonym: "Jackson-Barr syndrome" EXACT [Orphanet:3236] xref: GARD:305 {source="MONDO:GARD"} @@ -192780,7 +192810,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital deafness with vitiligo and achalasia" RELATED [GARD:0001705] synonym: "deafness vitiligo achalasia" RELATED [GARD:0001705] -synonym: "deafness, congenital, with vitiligo and achalasia" RELATED [OMIM:221350] +synonym: "deafness, congenital, with vitiligo and achalasia" RELATED [] xref: GARD:1705 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3239", source="Orphanet:3239/attributed", source="Orphanet:3239/ntbt"} xref: MEDGEN:347427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -192801,7 +192831,7 @@ subset: ordo_disorder {source="Orphanet:3217"} subset: orphanet_rare {source="Orphanet:3217"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [OMIM:221400] +synonym: "deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [] synonym: "Groll Hirschowitz syndrome" RELATED [GARD:0002568] synonym: "Groll-Hirschowitz syndrome" EXACT [OMIM:221400, Orphanet:3217] synonym: "nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy" RELATED [GARD:0002568] @@ -192849,7 +192879,7 @@ subset: rare synonym: "autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia" RELATED [GARD:0001698] synonym: "congenital profound sensorineural deafness and oligodontia" RELATED [GARD:0001698] synonym: "deafness oligodontia syndrome" RELATED [GARD:0001698] -synonym: "deafness-oligodontia syndrome" EXACT [OMIM:221740] +synonym: "deafness-oligodontia syndrome" EXACT [OMIM:221740, Orphanet:3230] xref: GARD:1698 {source="MONDO:GARD"} xref: MEDGEN:387798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538049 {source="Orphanet:3230/e", source="MONDO:equivalentTo", source="Orphanet:3230"} @@ -192865,7 +192895,7 @@ name: hearing loss, sensorineural, autosomal-mitochondrial type subset: gard_rare {source="GARD:18159", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, sensorineural, autosomal-mitochondrial type" NARROW [OMIM:221745] +synonym: "deafness, sensorineural, autosomal-mitochondrial type" NARROW [] xref: DOID:0111752 {source="MONDO:equivalentTo"} xref: GARD:18159 {source="MONDO:GARD"} xref: MEDGEN:346566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -192887,16 +192917,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:231720"} subset: orphanet_rare {source="Orphanet:231720"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CPHD3" RELATED ABBREVIATION [GARD:0010603, MONDO:Lexical, OMIM:221750] +synonym: "CPHD3" RELATED ABBREVIATION [GARD:0010603, MONDO:Lexical] synonym: "Deafness, sensorineural with pituitary dwarfism" RELATED [GARD:0010603] -synonym: "deafness, sensorineural, with pituitary dwarfism" RELATED [OMIM:221750] +synonym: "deafness, sensorineural, with pituitary dwarfism" RELATED [] synonym: "non-acquired combined pituitary hormone deficiency with spine abnormalities" EXACT CLINGEN_LABEL [] synonym: "non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome" EXACT [Orphanet:231720] -synonym: "non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome" RELATED [Orphanet:231720] +synonym: "non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome" RELATED [] synonym: "Pituitary hormone deficiency, combined with rigid cervical spine" RELATED [GARD:0010603] -synonym: "pituitary hormone deficiency, combined, 3" RELATED [MONDO:Lexical, OMIM:221750] -synonym: "pituitary hormone deficiency, combined, type 3" EXACT [MONDORULE:1, OMIM:221750] -synonym: "pituitary hormone deficiency, combined, with rigid cervical spine" RELATED [OMIM:221750] +synonym: "pituitary hormone deficiency, combined, 3" RELATED [MONDO:Lexical] +synonym: "pituitary hormone deficiency, combined, type 3" EXACT [MONDORULE:1] +synonym: "pituitary hormone deficiency, combined, with rigid cervical spine" RELATED [] synonym: "Winkelmann-Bethge-Pfeiffer syndrome" RELATED [GARD:0010603] xref: GARD:10603 {source="MONDO:GARD"} xref: MEDGEN:483740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -192921,16 +192951,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:2770"} subset: orphanet_rare {source="Orphanet:2770"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brain-bone-fat disease" RELATED [OMIM:221770] -synonym: "dementia, prefrontal, with bone cysts" RELATED [OMIM:221770] -synonym: "dementia, progressive, with lipomembranous polycystic osteodysplasia" RELATED [OMIM:221770] -synonym: "Nasu-Hakola disease" EXACT [OMIM:221770] +synonym: "brain-bone-fat disease" RELATED [] +synonym: "dementia, prefrontal, with bone cysts" RELATED [] +synonym: "dementia, progressive, with lipomembranous polycystic osteodysplasia" RELATED [] +synonym: "Nasu-Hakola disease" EXACT [DOID:0090112, Orphanet:2770] synonym: "NHD" EXACT ABBREVIATION [DOID:0090112, Orphanet:2770] -synonym: "PLO-SL" EXACT [DOID:0090112, Orphanet:2770] -synonym: "PLOSL" EXACT ABBREVIATION [DOID:0090112, MONDO:Lexical, OMIM:221770, Orphanet:2770] -synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" EXACT [DOID:0090112, MONDO:Lexical, OMIM:221770, Orphanet:2770] +synonym: "PLO-SL" EXACT ABBREVIATION [DOID:0090112, Orphanet:2770] +synonym: "PLOSL" EXACT ABBREVIATION [DOID:0090112, MONDO:Lexical, Orphanet:2770] +synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" EXACT [DOID:0090112, MONDO:Lexical, Orphanet:2770] synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly" EXACT [OMIMPS:221770] -synonym: "presenile dementia with bone cysts" EXACT [DOID:0090112, OMIM:221770] +synonym: "presenile dementia with bone cysts" EXACT [DOID:0090112] synonym: "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease" EXACT [DOID:0090112] xref: DOID:0090112 {source="MONDO:equivalentTo"} xref: GARD:9921 {source="MONDO:GARD"} @@ -192958,7 +192988,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:1659"} subset: orphanet_rare {source="Orphanet:1659"} subset: rare -synonym: "Dermatoleukodystrophy" EXACT [OMIM:221790] +synonym: "Dermatoleukodystrophy" EXACT [OMIM:221790, Orphanet:1659] xref: GARD:1813 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:1659", source="Orphanet:1659/attributed", source="Orphanet:1659/ntbt"} xref: MEDGEN:387794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -192981,10 +193011,10 @@ subset: orphanet_rare {source="Orphanet:79149"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DCCD" RELATED ABBREVIATION [GARD:0001815] -synonym: "dermochondrocorneal dystrophy" EXACT [OMIM:221800] +synonym: "dermochondrocorneal dystrophy" EXACT [icd11.foundation:1305138145, OMIM:221800, Orphanet:79149] synonym: "Dermochondrocorneal dystrophy of François" RELATED [GARD:0001815] -synonym: "FranC'ois syndrome" EXACT [Orphanet:79149] -synonym: "Francois syndrome" RELATED [OMIM:221800] +synonym: "FranC'ois syndrome" EXACT [] +synonym: "Francois syndrome" RELATED [] synonym: "François syndrome" EXACT [Orphanet:79149] xref: GARD:1815 {source="MONDO:GARD"} xref: icd11.foundation:1305138145 {source="MONDO:equivalentTo"} @@ -193012,8 +193042,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia" RELATED [GARD:0001814] synonym: "Dermatoosteolysis Kirghizian type" RELATED [GARD:0001814] -synonym: "dermatoosteolysis, Kirghizian type" EXACT [OMIM:221810] -synonym: "Kirghizian Dermatoosteolysis" RELATED [OMIM:221810] +synonym: "dermatoosteolysis, Kirghizian type" EXACT [icd11.foundation:2019080941, OMIM:221810, Orphanet:1657] +synonym: "Kirghizian Dermatoosteolysis" RELATED [] xref: GARD:1814 {source="MONDO:GARD"} xref: icd11.foundation:2019080941 {source="MONDO:equivalentTo"} xref: MEDGEN:341742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -193043,12 +193073,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive persistent hyperplastic primary vitreous" EXACT [MONDO:design_pattern] -synonym: "persistent fetal vasculature" RELATED [OMIM:221900] +synonym: "persistent fetal vasculature" RELATED [] synonym: "persistent foetal vasculature" RELATED OMO:0003005 [] synonym: "persistent hyperplastic primary vitreous, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:221900] -synonym: "PHPVAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:221900] -synonym: "retinal nonattachment and falciform detachment" RELATED [OMIM:221900] -synonym: "retinal nonattachment, nonsyndromic congenital" RELATED [OMIM:221900] +synonym: "PHPVAR" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "retinal nonattachment and falciform detachment" RELATED [] +synonym: "retinal nonattachment, nonsyndromic congenital" RELATED [] xref: GARD:18167 {source="MONDO:GARD"} xref: MEDGEN:370100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:221900 {source="MONDO:equivalentTo"} @@ -193085,10 +193115,10 @@ subset: orphanet_rare {source="Orphanet:3145"} subset: rare synonym: "diabetes insipidus nephrogenic intellectual disability and intracerebral calcification" RELATED [GARD:0000259] synonym: "diabetes insipidus nephrogenic mental retardation and intracerebral calcification" RELATED DEPRECATED [GARD:0000259] -synonym: "diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification" RELATED [OMIM:221995] -synonym: "diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification" RELATED DEPRECATED [OMIM:221995] +synonym: "diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification" RELATED [] +synonym: "diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification" RELATED DEPRECATED [] synonym: "Schofer Beetz Bohl syndrome" RELATED [GARD:0000259] -synonym: "Schofer-Beetz-Bohl syndrome" EXACT [Orphanet:3145] +synonym: "Schofer-Beetz-Bohl syndrome" EXACT [] xref: GARD:259 {source="MONDO:GARD"} xref: MEDGEN:387791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:221995 {source="Orphanet:3145", source="GARD:0000259", source="MONDO:equivalentTo", source="Orphanet:3145/e"} @@ -193104,16 +193134,16 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/259/diabetes id: MONDO:0009100 name: type 1 diabetes mellitus 1 def: "An inherited susceptibility or predisposition to developing 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3." [MONDO:patterns/inherited_susceptibility, PMID:12140742] -synonym: "diabetes mellitus, insulin-dependent" BROAD [MONDO:Lexical, OMIM:222100] -synonym: "diabetes mellitus, insulin-dependent, 1" EXACT [OMIM:222100] -synonym: "diabetes mellitus, insulin-dependent-1" EXACT [OMIM:222100, OMIM:genemap2] -synonym: "diabetes mellitus, type 1" BROAD [OMIM:222100] -synonym: "diabetes, type 1, susceptibility to" RELATED [OMIM:222100, OMIM:genemap2] -synonym: "IDDM" BROAD ABBREVIATION [MONDO:Lexical, OMIM:222100] +synonym: "diabetes mellitus, insulin-dependent" BROAD [MONDO:Lexical] +synonym: "diabetes mellitus, insulin-dependent, 1" EXACT [] +synonym: "diabetes mellitus, insulin-dependent-1" EXACT [] +synonym: "diabetes mellitus, type 1" BROAD [] +synonym: "diabetes, type 1, susceptibility to" RELATED [] +synonym: "IDDM" BROAD ABBREVIATION [MONDO:Lexical] synonym: "IDDM1" EXACT ABBREVIATION [] -synonym: "insulin-dependent diabetes mellitus 1" EXACT [OMIM:222100] -synonym: "juvenile-onset diabetes" BROAD [OMIM:222100] -synonym: "type 1 diabetes mellitus" BROAD [OMIM:222100, OMIM:genemap2] +synonym: "insulin-dependent diabetes mellitus 1" EXACT [] +synonym: "juvenile-onset diabetes" BROAD [] +synonym: "type 1 diabetes mellitus" BROAD [] xref: MEDGEN:1734436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C5435660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1734436"} is_a: MONDO:0020573 {source="OMIM:222100"} ! inherited disease susceptibility @@ -193129,14 +193159,14 @@ name: Wolfram syndrome 1 def: "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "diabetes insipidus and mellitus with optic atrophy and deafness" RELATED [OMIM:222300] -synonym: "Wfs" RELATED [OMIM:222300] +synonym: "diabetes insipidus and mellitus with optic atrophy and deafness" RELATED [] +synonym: "Wfs" RELATED [] synonym: "WFS1" EXACT ABBREVIATION [DOID:0110629, MONDO:Lexical, OMIM:222300] synonym: "WFS1 Wolfram syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "WOLFRAM syndrome 1" RELATED [OMIM:222300] -synonym: "Wolfram syndrome 1" EXACT [MONDO:Lexical, OMIM:222300] +synonym: "WOLFRAM syndrome 1" RELATED [] +synonym: "Wolfram syndrome 1" EXACT [DOID:0110629, MONDO:Lexical, OMIM:222300] synonym: "Wolfram syndrome caused by mutation in WFS1" EXACT [MONDO:design_pattern] -synonym: "Wolfram syndrome type 1" EXACT [DOID:0110629, MONDORULE:1, OMIM:222300] +synonym: "Wolfram syndrome type 1" EXACT [MONDORULE:1] xref: DOID:0110629 {source="MONDO:equivalentTo"} xref: ICD10CM:E13.8 {source="DOID:0110629"} xref: MEDGEN:1641635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -193151,7 +193181,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0009102 name: diaminopentanuria -synonym: "cystine-lysinuria" RELATED [OMIM:222350] +synonym: "cystine-lysinuria" RELATED [] synonym: "Diaminopentanuria" EXACT [OMIM:222350] xref: MEDGEN:347412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565630 {source="MONDO:equivalentTo"} @@ -193165,8 +193195,8 @@ name: diaphragmatic hernia 2 subset: gard_rare {source="GARD:15161", source="MONDO:GARD"} subset: rare synonym: "diaphragmatic hernia 2" EXACT [MONDO:Lexical, OMIM:222400] -synonym: "DIH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222400] -synonym: "hernia, congenital diaphragmatic 2" EXACT [OMIM:222400, OMIM:genemap2] +synonym: "DIH2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hernia, congenital diaphragmatic 2" EXACT [] xref: GARD:15161 {source="MONDO:GARD"} xref: MEDGEN:347411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565629 {source="MONDO:equivalentTo"} @@ -193189,13 +193219,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DBS/FOAR syndrome" EXACT [DOID:0090144, OMIM:222448, Orphanet:2143] synonym: "diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria" RELATED [GARD:0001899] -synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria" RELATED [OMIM:222448] -synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" EXACT [DOID:0090144] +synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria" RELATED [] +synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" EXACT [DOID:0090144, OMIM:222448] synonym: "diaphragmatic hernia-exomphalos-hypertelorism syndrome" EXACT [DOID:0090144, Orphanet:2143] synonym: "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" EXACT [DOID:0090144, Orphanet:2143] -synonym: "Donnai-Barrow syndrome" EXACT CLINGEN_LABEL [OMIM:222448] +synonym: "Donnai-Barrow syndrome" EXACT CLINGEN_LABEL [DOID:0090144, OMIM:222448, Orphanet:2143] synonym: "facio-oculo-acoustico-renal syndrome" EXACT [DOID:0090144, Orphanet:2143] -synonym: "faciooculoacousticorenal syndrome" EXACT [DOID:0090144] +synonym: "faciooculoacousticorenal syndrome" EXACT [DOID:0090144, OMIM:222448] synonym: "FOAR syndrome" EXACT [DOID:0090144, Orphanet:2143] synonym: "Holmes-Schepens syndrome" EXACT [DOID:0090144, Orphanet:2143] synonym: "syndrome of ocular and facial anomalies, telecanthus and deafness" EXACT [DOID:0090144, Orphanet:2143] @@ -193227,18 +193257,18 @@ subset: ordo_disorder {source="Orphanet:84064"} subset: orphanet_rare {source="Orphanet:84064"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "phenotypic diarrhea" EXACT [Orphanet:84064] -synonym: "phenotypic diarrhoea" EXACT OMO:0003005 [] -synonym: "SD/THE" EXACT [Orphanet:84064] +synonym: "phenotypic diarrhea" EXACT [DOID:0111414, Orphanet:84064] +synonym: "phenotypic diarrhoea" EXACT OMO:0003005 [icd11.foundation:1470910753] +synonym: "SD/THE" EXACT ABBREVIATION [DOID:0111414, Orphanet:84064] synonym: "Syndromatic diarrhea" RELATED [GARD:0005258] synonym: "Syndromatic diarrhoea" RELATED OMO:0003005 [] -synonym: "syndromic diarrhea" EXACT [MONDO:patterns/syndromic] -synonym: "syndromic diarrhea/Tricho-hepato-enteric syndrome" EXACT [Orphanet:84064] -synonym: "syndromic diarrhoea" EXACT OMO:0003005 [] -synonym: "THES1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222470] -synonym: "Tricho-hepato-enteric syndrome" EXACT [Orphanet:84064] -synonym: "Trichohepatoenteric syndrome" EXACT [Orphanet:84064] -synonym: "Trichohepatoenteric syndrome type 1" EXACT [MONDORULE:1, OMIM:222470] +synonym: "syndromic diarrhea" EXACT [DOID:0111414, MONDO:patterns/syndromic, Orphanet:84064] +synonym: "syndromic diarrhea/Tricho-hepato-enteric syndrome" EXACT [DOID:0111414, Orphanet:84064] +synonym: "syndromic diarrhoea" EXACT OMO:0003005 [icd11.foundation:1470910753] +synonym: "THES1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Tricho-hepato-enteric syndrome" EXACT [DOID:0111414, Orphanet:84064] +synonym: "Trichohepatoenteric syndrome" EXACT [DOID:0111414, OMIMPS:222470, Orphanet:84064] +synonym: "Trichohepatoenteric syndrome type 1" EXACT [MONDORULE:1] xref: DOID:0111414 {source="MONDO:equivalentTo"} xref: GARD:5258 {source="MONDO:GARD"} xref: icd11.foundation:1470910753 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:84064"} @@ -193269,7 +193299,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:1671"} subset: orphanet_rare {source="Orphanet:1671"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diastematomyelia" EXACT [OMIM:222500] +synonym: "diastematomyelia" EXACT [ICD10CM:Q06.2, icd11.foundation:2070601288, NCIT:C98913, OMIM:222500, Orphanet:1671] synonym: "Dimyelia" RELATED [GARD:0001851] synonym: "diplomyelia" RELATED [GARD:0001851] synonym: "Pseudodiplomyelia" RELATED [GARD:0001851] @@ -193303,11 +193333,11 @@ subset: ordo_disorder {source="Orphanet:628"} subset: orphanet_rare {source="Orphanet:628"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DD" RELATED ABBREVIATION [OMIM:222600] -synonym: "diastrophic dwarfism" RELATED [Orphanet:628] -synonym: "diastrophic dysplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:222600, Orphanet:628] -synonym: "diastrophic dysplasia, Broad bone-Platyspondylic variant" RELATED [OMIM:222600] -synonym: "DTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222600] +synonym: "DD" RELATED ABBREVIATION [] +synonym: "diastrophic dwarfism" RELATED [] +synonym: "diastrophic dysplasia" EXACT CLINGEN_LABEL [DOID:14687, ICD10CM:Q77.5, icd11.foundation:1681550532, MONDO:Lexical, NCIT:C156311, OMIM:222600, Orphanet:628] +synonym: "diastrophic dysplasia, Broad bone-Platyspondylic variant" RELATED [] +synonym: "DTD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:14687 {source="MONDO:equivalentTo"} xref: GARD:6275 {source="MONDO:GARD"} xref: ICD10CM:Q77.5 {source="MONDO:equivalentTo", source="Orphanet:628/specific", source="Orphanet:628", source="DOID:14687", source="Orphanet:628/e"} @@ -193339,9 +193369,9 @@ subset: gard_rare {source="GARD:1854", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dibasic amino aciduria 1" RELATED [OMIM:222690] -synonym: "dibasic amino aciduria I" RELATED [OMIM:222690] -synonym: "dibasic amino aciduria type 1" EXACT [MONDORULE:1, OMIM:222690] +synonym: "dibasic amino aciduria 1" RELATED [] +synonym: "dibasic amino aciduria I" RELATED [] +synonym: "dibasic amino aciduria type 1" EXACT [MONDORULE:1] synonym: "dibasic aminoaciduria 1" RELATED [GARD:0001854] xref: GARD:1854 {source="MONDO:GARD"} xref: ICD10CM:E72.0 {source="Orphanet:1032", source="Orphanet:1032/attributed", source="Orphanet:1032/ntbt"} @@ -193366,15 +193396,15 @@ subset: ordo_disorder {source="Orphanet:470"} subset: orphanet_rare {source="Orphanet:470"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dibasic amino aciduria 2" RELATED [OMIM:222700] +synonym: "dibasic amino aciduria 2" RELATED [] synonym: "dibasic amino aciduria II" EXACT [DOID:0060439] synonym: "dibasic aminoaciduria 2" RELATED [GARD:0001853] synonym: "Dibasicamino aciduria II" RELATED [GARD:0003335] -synonym: "hyperdibasic aminoaciduria" EXACT [DOID:0060439] -synonym: "hyperdibasic aminoaciduria type 2" EXACT [Orphanet:470] +synonym: "hyperdibasic aminoaciduria" EXACT [DOID:0060439, Orphanet:470] +synonym: "hyperdibasic aminoaciduria type 2" EXACT [] synonym: "LPI" EXACT ABBREVIATION [DOID:0060439, MONDO:Lexical, OMIM:222700, Orphanet:470] -synonym: "lysinuric PROTEIN intolerance" RELATED [OMIM:222700] -synonym: "lysinuric protein intolerance" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:222700] +synonym: "lysinuric PROTEIN intolerance" RELATED [] +synonym: "lysinuric protein intolerance" EXACT CLINGEN_LABEL [DOID:0060439, icd11.foundation:972050440, MONDO:Lexical, NCIT:C121563, OMIM:222700, Orphanet:470] xref: DOID:0060439 {source="MONDO:equivalentTo"} xref: GARD:3335 {source="MONDO:GARD"} xref: ICD10CM:E72.0 {source="Orphanet:470", source="Orphanet:470/attributed", source="Orphanet:470/ntbt"} @@ -193413,11 +193443,11 @@ subset: ordo_disorder {source="Orphanet:2195"} subset: orphanet_rare {source="Orphanet:2195"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DCBXA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222730] -synonym: "dicarboxylic aminoaciduria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:222730] +synonym: "DCBXA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "dicarboxylic aminoaciduria" EXACT CLINGEN_LABEL [DOID:0060650, icd11.foundation:1947265216, MONDO:Lexical, OMIM:222730, Orphanet:2195] synonym: "Dicarboxylicaminoaciduria" RELATED [GARD:0001855] -synonym: "glutamate-aspartate Transport defect" RELATED [OMIM:222730] -synonym: "glutamate-aspartate transport defect" EXACT [DOID:0060650, Orphanet:2195] +synonym: "glutamate-aspartate Transport defect" RELATED [] +synonym: "glutamate-aspartate transport defect" EXACT [DOID:0060650, icd11.foundation:1947265216, OMIM:222730, Orphanet:2195] xref: DOID:0060650 {source="MONDO:equivalentTo"} xref: GARD:1855 {source="MONDO:GARD"} xref: ICD10CM:E72.0 {source="DOID:0060650", source="Orphanet:2195/attributed", source="Orphanet:2195/ntbt", source="Orphanet:2195"} @@ -193445,11 +193475,11 @@ subset: ordo_disorder {source="Orphanet:38874"} subset: orphanet_rare {source="Orphanet:38874"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dihydropyrimidinase deficiency" EXACT [MONDO:Lexical, OMIM:222748, Orphanet:38874] -synonym: "dihydropyrimidinuria" EXACT CLINGEN_LABEL [OMIM:222748] -synonym: "Dph deficiency" RELATED [OMIM:222748] -synonym: "Dpys deficiency" RELATED [OMIM:222748] -synonym: "DPYSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222748] +synonym: "dihydropyrimidinase deficiency" EXACT [DOID:0111629, MONDO:Lexical, OMIM:222748, Orphanet:38874] +synonym: "dihydropyrimidinuria" EXACT CLINGEN_LABEL [DOID:0111629, OMIM:222748, Orphanet:38874] +synonym: "Dph deficiency" RELATED [] +synonym: "Dpys deficiency" RELATED [] +synonym: "DPYSD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111629 {source="MONDO:equivalentTo"} xref: GARD:12347 {source="MONDO:GARD"} xref: ICD10CM:E79.8 {source="Orphanet:38874/attributed", source="Orphanet:38874/ntbt", source="Orphanet:38874"} @@ -193473,17 +193503,17 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:309796"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate" RELATED [GARD:0009429] -synonym: "chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852] -synonym: "Dhapat deficiency" EXACT [DOID:0110852] -synonym: "Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852] -synonym: "Glyceronephosphate O-acyltransferase deficiency" EXACT [DOID:0110852] +synonym: "chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852, OMIM:222765] +synonym: "Dhapat deficiency" EXACT [DOID:0110852, OMIM:222765] +synonym: "Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852, OMIM:222765] +synonym: "Glyceronephosphate O-acyltransferase deficiency" EXACT [DOID:0110852, OMIM:222765] synonym: "Gnpat deficiency" EXACT [DOID:0110852, OMIM:222765] synonym: "GNPAT rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "peroxisomal dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852, OMIM:222765] -synonym: "RCDP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:222765] -synonym: "Rcdp2" EXACT [DOID:0110852] +synonym: "RCDP2" EXACT ABBREVIATION [DOID:0110852, OMIM:222765] +synonym: "Rcdp2" EXACT [] synonym: "rhizomelic chondrodysplasia punctata caused by mutation in GNPAT" EXACT [MONDO:design_pattern] -synonym: "rhizomelic chondrodysplasia punctata type 2" EXACT CLINGEN_LABEL [OMIM:222765] +synonym: "rhizomelic chondrodysplasia punctata type 2" EXACT CLINGEN_LABEL [DOID:0110852, icd11.foundation:179969811, Orphanet:309796] synonym: "rhizomelic chondrodysplasia punctata, type 2" EXACT [MONDO:Lexical, OMIM:222765] synonym: "type 2 rhizomelic chondrodysplasia punctata" EXACT [GARD:0009429] xref: DOID:0110852 {source="MONDO:equivalentTo"} @@ -193518,13 +193548,13 @@ subset: ordo_disorder {source="Orphanet:714"} subset: orphanet_rare {source="Orphanet:714"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bisphosphoglycerate mutase deficiency" RELATED [OMIM:222800] -synonym: "bisphosphoglyceromutase deficiency" RELATED [OMIM:222800] -synonym: "BPGM deficiency" RELATED [OMIM:222800] -synonym: "diphosphoglycerate mutase deficiency of erythrocyte" RELATED [OMIM:222800] +synonym: "bisphosphoglycerate mutase deficiency" RELATED [] +synonym: "bisphosphoglyceromutase deficiency" RELATED [] +synonym: "BPGM deficiency" RELATED [] +synonym: "diphosphoglycerate mutase deficiency of erythrocyte" RELATED [] synonym: "diphosphoglycerate phosphatase deficiency" EXACT [NCIT:C131638] -synonym: "DPGM deficiency" RELATED [OMIM:222800] -synonym: "erythrocytosis, familial, 8" EXACT [OMIM:222800, OMIM:genemap2] +synonym: "DPGM deficiency" RELATED [] +synonym: "erythrocytosis, familial, 8" EXACT [OMIM:222800] xref: DOID:0111630 {source="MONDO:equivalentTo"} xref: GARD:1874 {source="MONDO:GARD"} xref: ICD10CM:D55.2 {source="Orphanet:714", source="Orphanet:714/attributed", source="Orphanet:714/ntbt"} @@ -193549,29 +193579,29 @@ subset: ordo_disorder {source="Orphanet:35122"} subset: orphanet_rare {source="Orphanet:35122"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital sucrase-isomaltase deficiency" EXACT CLINGEN_LABEL [] -synonym: "congenital sucrase-isomaltose malabsorption" EXACT [Orphanet:35122] -synonym: "congenital sucrose intolerance" EXACT [Orphanet:35122] +synonym: "congenital sucrase-isomaltase deficiency" EXACT CLINGEN_LABEL [DOID:0111633, icd11.foundation:1817406536, NCIT:C128190, Orphanet:35122] +synonym: "congenital sucrase-isomaltose malabsorption" EXACT [DOID:0111633] +synonym: "congenital sucrose intolerance" EXACT [DOID:0111633, icd11.foundation:1817406536, Orphanet:35122] synonym: "congenital sucrose malabsorption" RELATED [] synonym: "congenital sucrose-isomaltase intolerance" RELATED [] synonym: "congenital sucrose-isomaltase malabsorption" RELATED [GARD:0007710] -synonym: "CSID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:222900, Orphanet:35122] -synonym: "disaccharide intolerance" EXACT [Orphanet:35122] -synonym: "disaccharide intolerance 1" RELATED [OMIM:222900] +synonym: "CSID" EXACT ABBREVIATION [DOID:0111633, MONDO:Lexical, OMIM:222900, Orphanet:35122] +synonym: "disaccharide intolerance" EXACT [DOID:0111633, Orphanet:35122] +synonym: "disaccharide intolerance 1" RELATED [] synonym: "disaccharide intolerance i" RELATED [] synonym: "disaccharide intolerance, 1" RELATED [GARD:0007710] -synonym: "genetic sucrase-isomaltose malabsorption" EXACT [Orphanet:35122] +synonym: "genetic sucrase-isomaltose malabsorption" EXACT [] synonym: "intestinal sucrase-a-dextrinase deficiency" RELATED [] synonym: "invertase deficiency" RELATED [] -synonym: "SI deficiency" RELATED [OMIM:222900] +synonym: "SI deficiency" RELATED [] synonym: "sucrase-alpha-dextrinase deficiency" RELATED [] synonym: "sucrase-isomaltase deficiency" EXACT [] -synonym: "sucrase-isomaltase deficiency, congenital" RELATED [MONDO:Lexical, OMIM:222900] +synonym: "sucrase-isomaltase deficiency, congenital" RELATED [MONDO:Lexical] synonym: "sucrose intolerance congenital" RELATED [GARD:0007710] -synonym: "sucrose intolerance, congenital" RELATED [OMIM:222900] +synonym: "sucrose intolerance, congenital" RELATED [] synonym: "sucrose isomaltose enzyme deficiency" RELATED [GARD:0006183] synonym: "sucrose-isomaltase malabsorption, congenital" RELATED [GARD:0007710] -synonym: "sucrose-isomaltose malabsorption, congenital" RELATED [OMIM:222900] +synonym: "sucrose-isomaltose malabsorption, congenital" RELATED [] xref: DOID:0111633 {source="MONDO:equivalentTo"} xref: GARD:6183 {source="MONDO:GARD"} xref: ICD10CM:E74.3 {source="Orphanet:35122/inclusion", source="Orphanet:35122", source="Orphanet:35122/ntbt"} @@ -193611,10 +193641,10 @@ subset: ordo_disorder {source="Orphanet:53690"} subset: orphanet_rare {source="Orphanet:53690"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alactasia, congenital" RELATED [OMIM:223000] -synonym: "congenital lactase deficiency" EXACT CLINGEN_LABEL [] -synonym: "disaccharide intolerance 2" RELATED [OMIM:223000] -synonym: "lactase deficiency, congenital" RELATED [OMIM:223000] +synonym: "Alactasia, congenital" RELATED [] +synonym: "congenital lactase deficiency" EXACT CLINGEN_LABEL [DOID:0111646, ICD10CM:E73.0, icd11.foundation:2109252471, Orphanet:53690] +synonym: "disaccharide intolerance 2" RELATED [] +synonym: "lactase deficiency, congenital" RELATED [] xref: DOID:0111646 {source="MONDO:equivalentTo"} xref: GARD:12311 {source="MONDO:GARD"} xref: ICD10CM:E73.0 {source="Orphanet:53690/e", source="Orphanet:53690/specific", source="MONDO:equivalentTo", source="Orphanet:53690"} @@ -193649,8 +193679,8 @@ replaced_by: MONDO:0100345 [Term] id: MONDO:0009117 name: obsolete disorganization, mouse, homolog of -synonym: "disorganization, mouse, homolog OF" RELATED [OMIM:223200] -synonym: "Ds" RELATED [OMIM:223200] +synonym: "disorganization, mouse, homolog OF" RELATED [] +synonym: "Ds" RELATED [] xref: OMIM:223200 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -193716,10 +193746,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DK phocomelia syndrome" EXACT [OMIM:223340, Orphanet:3439] synonym: "phocomelia thrombocytopenia encephalocele and urogenital malformations" RELATED [GARD:0001894] -synonym: "phocomelia, thrombocytopenia, encephalocele, urogenital malformations" RELATED [OMIM:223340] +synonym: "phocomelia, thrombocytopenia, encephalocele, urogenital malformations" RELATED [] synonym: "phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome" EXACT [Orphanet:3439] synonym: "Von Voss Cherstvoy syndrome" RELATED [GARD:0001894] -synonym: "von Voss-Cherstvoy syndrome" EXACT [OMIM:223340] +synonym: "von Voss-Cherstvoy syndrome" EXACT [OMIM:223340, Orphanet:3439] xref: GARD:1894 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3439", source="Orphanet:3439/attributed", source="Orphanet:3439/ntbt"} xref: MEDGEN:341728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -193753,11 +193783,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital dopamine beta-hydroxylase deficiency" EXACT [DOID:0090145] synonym: "dopamine beta hydroxylase deficiency" RELATED [GARD:0001903] -synonym: "dopamine beta-hydroxylase deficiency" EXACT CLINGEN_LABEL [] -synonym: "dopamine BETA-HYDROXYLASE deficiency, congenital" RELATED [OMIM:223360] -synonym: "noradrenaline deficiency" EXACT [DOID:0090145, OMIM:223360, Orphanet:230] -synonym: "norepinephrine deficiency" EXACT [DOID:0090145, OMIM:223360, Orphanet:230] -synonym: "orthostatic hypotension 1, due to DBH deficiency" EXACT [OMIM:223360, OMIM:genemap2] +synonym: "dopamine beta-hydroxylase deficiency" EXACT CLINGEN_LABEL [DOID:0090145, Orphanet:230] +synonym: "dopamine BETA-HYDROXYLASE deficiency, congenital" RELATED [] +synonym: "noradrenaline deficiency" EXACT [DOID:0090145, OMIM:223360] +synonym: "norepinephrine deficiency" EXACT [DOID:0090145, OMIM:223360] +synonym: "orthostatic hypotension 1, due to DBH deficiency" EXACT [] xref: DOID:0090145 {source="MONDO:equivalentTo"} xref: GARD:1903 {source="MONDO:GARD"} xref: ICD10CM:G90.8 {source="Orphanet:230", source="Orphanet:230/attributed", source="Orphanet:230/ntbt"} @@ -193787,7 +193817,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:235"} subset: orphanet_rare {source="Orphanet:235"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Dubowitz syndrome" EXACT [OMIM:223370] +synonym: "Dubowitz syndrome" EXACT [DOID:14796, icd11.foundation:758537040, NCIT:C125591, OMIM:223370, Orphanet:235] synonym: "Dubowitz's syndrome" EXACT [DOID:14796] synonym: "dwarfism-eczema-peculiar facies syndrome" RELATED [GARD:0006290] synonym: "intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci" RELATED [GARD:0006290] @@ -193823,7 +193853,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6290/dubowit id: MONDO:0009125 name: obsolete dopamine beta-hydroxylase, plasma, thermolability of comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "dopamine beta-hydroxylase, plasma, thermolability of" EXACT [OMIM:223380] +synonym: "dopamine beta-hydroxylase, plasma, thermolability of" EXACT [] xref: OMIM:223380 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -193843,7 +193873,7 @@ subset: rare synonym: "atresia of duodenum" EXACT [NCIT:C101025] synonym: "congenital atresia of duodenum" EXACT [NCIT:C101025] synonym: "congenital duodenal atresia" EXACT [NCIT:C101025] -synonym: "duodenal atresia" EXACT [MONDO:ambiguous, OMIM:223400] +synonym: "duodenal atresia" EXACT [DOID:0080216, MONDO:ambiguous, NCIT:C101025, OMIM:223400, Orphanet:1203] synonym: "duodenal atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Duodenal Atresia or Stenosis" EXACT [NORD:1066] synonym: "duodenal stenosis" RELATED [GARD:0000054] @@ -193881,9 +193911,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3293/dwarfis [Term] id: MONDO:0009128 name: dwarfism, intellectual disability, and eye abnormality -synonym: "dwarfism, intellectual disability, and eye abnormality" EXACT [OMIM:223540] +synonym: "dwarfism, intellectual disability, and eye abnormality" EXACT [] synonym: "dwarfism, mental retardation, and eye abnormality" EXACT DEPRECATED [OMIM:223540] -synonym: "Mollica syndrome" RELATED [OMIM:223540] +synonym: "Mollica syndrome" RELATED [] xref: MEDGEN:208664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535809 {source="MONDO:equivalentTo"} xref: OMIM:223540 {source="MONDO:equivalentTo"} @@ -193913,11 +193943,11 @@ subset: ordo_disorder {source="Orphanet:239"} subset: orphanet_rare {source="Orphanet:239"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:223800] +synonym: "DMC" RELATED ABBREVIATION [MONDO:Lexical] synonym: "DMC disease" EXACT [DOID:0111167] synonym: "DMC syndrome" RELATED [GARD:0006295] synonym: "Dyggve Melchior Clausen syndrome" EXACT [NORD:1068] -synonym: "Dyggve-Melchior-Clausen disease" EXACT [MONDO:Lexical, OMIM:223800] +synonym: "Dyggve-Melchior-Clausen disease" EXACT [DOID:0111167, icd11.foundation:21266164, MONDO:Lexical, NCIT:C124844, OMIM:223800, Orphanet:239] synonym: "Dyggve-Melchior-Clausen syndrome" EXACT [NCIT:C124844] synonym: "pseudo-Morquio disease type I" EXACT [DOID:0111167] xref: DOID:0111167 {source="MONDO:equivalentTo"} @@ -193947,22 +193977,22 @@ subset: ordo_disorder {source="Orphanet:1764"} subset: orphanet_rare {source="Orphanet:1764"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Dysautonomia, Familial" EXACT [NORD:1069] -synonym: "dysautonomia, familial" RELATED [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, OMIM:223900] -synonym: "familial autonomic nervous dysfunction" RELATED [DOID:11589] -synonym: "familial dysautonomia" EXACT [DOID:11589, https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, Wikipedia:Familial_dysautonomia] +synonym: "Dysautonomia, Familial" EXACT [NORD:1069, OMIM:223900] +synonym: "dysautonomia, familial" RELATED [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms] +synonym: "familial autonomic nervous dysfunction" RELATED [] +synonym: "familial dysautonomia" EXACT [DOID:11589, https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, icd11.foundation:831377479, NCIT:C84706, Orphanet:1764, Wikipedia:Familial_dysautonomia] synonym: "hereditary sensory and autonomic neuropathy 3" EXACT [GARD:0007581] synonym: "hereditary sensory and autonomic neuropathy type 3" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, Orphanet:1764] -synonym: "hereditary sensory and autonomic neuropathy type III" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, Orphanet:1764] +synonym: "hereditary sensory and autonomic neuropathy type III" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, icd11.foundation:831377479, NCIT:C84706, Orphanet:1764] synonym: "hereditary sensory neuropathy type 3" EXACT [GARD:0007581] synonym: "HSAN 3" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, OMIM:223900] -synonym: "HSAN III" EXACT [DOID:11589, https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706] +synonym: "HSAN III" EXACT ABBREVIATION [DOID:11589, https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706] synonym: "HSAN3" EXACT ABBREVIATION [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, MONDO:Lexical, OMIM:223900, Orphanet:1764] synonym: "HSN 3" EXACT [GARD:0007581] synonym: "neuropathy, hereditary sensory and autonomic, type 3" EXACT [OMIM:223900] -synonym: "neuropathy, hereditary sensory and autonomic, type III" EXACT [MONDO:Lexical, NCIT:C84706, OMIM:223900] -synonym: "Riley Day syndrome" EXACT [GARD:0007581] -synonym: "Riley-Day syndrome" EXACT [https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, OMIM:223900, Orphanet:1764] +synonym: "neuropathy, hereditary sensory and autonomic, type III" EXACT [MONDO:Lexical, NCIT:C84706] +synonym: "Riley Day syndrome" EXACT [GARD:0007581, icd11.foundation:831377479] +synonym: "Riley-Day syndrome" EXACT [DOID:11589, https://ghr.nlm.nih.gov/condition/familial-dysautonomia#synonyms, NCIT:C84706, OMIM:223900, Orphanet:1764] xref: DOID:11589 {source="MONDO:equivalentTo"} xref: GARD:7581 {source="MONDO:GARD"} xref: ICD10CM:G90.1 {source="DOID:11589", source="Orphanet:1764", source="Orphanet:1764/specific", source="Orphanet:1764/e"} @@ -194015,15 +194045,15 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "CAMRQ" EXACT ABBREVIATION [DOID:0050997] -synonym: "CAMRQ syndrome" EXACT [Orphanet:1766] +synonym: "CAMRQ syndrome" EXACT [DOID:0050997, Orphanet:1766] synonym: "cerebellar ataxia, mental retardation and dysequlibrium syndrome" EXACT DEPRECATED [MONDO:0000564] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium" EXACT DEPRECATED [OMIMPS:224050] -synonym: "cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome" EXACT [Orphanet:1766] +synonym: "cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome" EXACT [] synonym: "cerebellar disorder, nonprogressive, with mental retardation" RELATED DEPRECATED [GARD:0001998] synonym: "cerebellar hypoplasia, VLDLR associated" RELATED [GARD:0001998] synonym: "DES" RELATED ABBREVIATION [GARD:0001998] -synonym: "dialysis dysequilibrium syndrome" EXACT [NCIT:C114781] -synonym: "dysequilibrium syndrome" EXACT [GARD:0001998] +synonym: "dialysis dysequilibrium syndrome" EXACT [] +synonym: "dysequilibrium syndrome" EXACT [GARD:0001998, Orphanet:1766] synonym: "non-progressive cerebellar ataxia-intellectual disability syndrome" EXACT [Orphanet:1766] synonym: "VLDLRCH" RELATED ABBREVIATION [GARD:0001998] xref: DOID:0050997 {source="MONDO:equivalentTo"} @@ -194052,23 +194082,23 @@ subset: ordo_disorder {source="Orphanet:98873"} subset: orphanet_rare {source="Orphanet:98873"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anemia, congenital dyserythropoietic, type 2" RELATED [OMIM:224100] -synonym: "anemia, congenital dyserythropoietic, type II" RELATED [MONDO:Lexical, OMIM:224100] +synonym: "anemia, congenital dyserythropoietic, type 2" RELATED [] +synonym: "anemia, congenital dyserythropoietic, type II" RELATED [MONDO:Lexical] synonym: "anemia, dyserythropoietic, congenital type 2" RELATED [GARD:0002001] -synonym: "Cda 2" RELATED [OMIM:224100] -synonym: "CDA II" EXACT [Orphanet:98873] -synonym: "CDA type 2" EXACT [Orphanet:98873] -synonym: "CDA type II" EXACT [Orphanet:98873] -synonym: "CDAN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224100] -synonym: "congenital dyserythropoietic anemia type 2" EXACT CLINGEN_LABEL [Orphanet:98873] -synonym: "dyserythropoietic Anemia, congenital, type 2" RELATED [OMIM:224100] -synonym: "dyserythropoietic anemia, congenital, type II" EXACT [OMIM:224100, OMIM:genemap2] -synonym: "dyserythropoietic Anemia, hempas type" RELATED [OMIM:224100] +synonym: "Cda 2" RELATED [] +synonym: "CDA II" EXACT ABBREVIATION [DOID:0111401, Orphanet:98873] +synonym: "CDA type 2" EXACT [DOID:0111401, Orphanet:98873] +synonym: "CDA type II" EXACT [DOID:0111401, Orphanet:98873] +synonym: "CDAN2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "congenital dyserythropoietic anemia type 2" EXACT CLINGEN_LABEL [DOID:0111401, Orphanet:98873] +synonym: "dyserythropoietic Anemia, congenital, type 2" RELATED [] +synonym: "dyserythropoietic anemia, congenital, type II" EXACT [] +synonym: "dyserythropoietic Anemia, hempas type" RELATED [] synonym: "hempas anaemia" RELATED OMO:0003005 [] synonym: "hempas anemia" RELATED [GARD:0002001] -synonym: "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" EXACT [Orphanet:98873] -synonym: "hereditary erythroblastic multinuclearity with Positive acidified-serum test" RELATED [OMIM:224100] -synonym: "SEC23B-CDG" EXACT [Orphanet:98873] +synonym: "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" EXACT [DOID:0111401, Orphanet:98873] +synonym: "hereditary erythroblastic multinuclearity with Positive acidified-serum test" RELATED [] +synonym: "SEC23B-CDG" EXACT ABBREVIATION [DOID:0111401, Orphanet:98873] xref: DOID:0111401 {source="MONDO:equivalentTo"} xref: GARD:2001 {source="MONDO:GARD"} xref: ICD10CM:D64.4 {source="Orphanet:98873", source="Orphanet:98873/attributed", source="Orphanet:98873/ntbt"} @@ -194092,12 +194122,12 @@ name: anemia, congenital dyserythropoietic, type 1a subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anemia, congenital dyserythropoietic, type 1" RELATED [OMIM:224120] +synonym: "anemia, congenital dyserythropoietic, type 1" RELATED [] synonym: "anemia, congenital dyserythropoietic, type 1a" EXACT CLINGEN_LABEL [] synonym: "anemia, congenital dyserythropoietic, type Ia" EXACT [MONDO:Lexical, OMIM:224120] -synonym: "CDA Ia" RELATED [OMIM:224120] -synonym: "CDAN1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224120] -synonym: "dyserythropoietic Anemia, congenital, type Ia" RELATED [OMIM:224120] +synonym: "CDA Ia" RELATED [] +synonym: "CDAN1A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "dyserythropoietic Anemia, congenital, type Ia" RELATED [] xref: DOID:0111398 {source="MONDO:equivalentTo"} xref: MEDGEN:1807106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:224120 {source="MONDO:equivalentTo"} @@ -194118,12 +194148,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: prototype_pattern subset: rare synonym: "autosomal recessive dyskeratosis congenita" RELATED [GARD:0006300] -synonym: "autosomal recessive dyskeratosis congenita 1" RELATED [DOID:0070015] +synonym: "autosomal recessive dyskeratosis congenita 1" RELATED [] synonym: "DKCB" RELATED ABBREVIATION [GARD:0006300] -synonym: "DKCB1" EXACT ABBREVIATION [DOID:0070015, MONDO:Lexical, OMIM:224230] +synonym: "DKCB1" EXACT ABBREVIATION [DOID:0070015, MONDO:Lexical, NCIT:C176925, OMIM:224230] synonym: "dyskeratosis congenita autosomal recessive" RELATED [GARD:0006300] -synonym: "dyskeratosis congenita, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:224230] -synonym: "dyskeratosis congenita, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:224230] +synonym: "dyskeratosis congenita, autosomal recessive 1" EXACT [MONDO:Lexical, NCIT:C176925, OMIM:224230] +synonym: "dyskeratosis congenita, autosomal recessive type 1" EXACT [MONDORULE:1] xref: DOID:0070015 {source="MONDO:equivalentTo"} xref: GARD:6300 {source="MONDO:GARD"} xref: MEDGEN:341705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -194158,7 +194188,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1782"} subset: orphanet_rare {source="Orphanet:1782"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dysosteosclerosis" EXACT [OMIM:224300] +synonym: "dysosteosclerosis" EXACT [icd11.foundation:1853176074, OMIM:224300, Orphanet:1782] xref: GARD:2012 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:1782/attributed", source="Orphanet:1782/ntbt", source="Orphanet:1782"} xref: icd11.foundation:1853176074 {source="MONDO:equivalentTo"} @@ -194184,12 +194214,12 @@ subset: orphanet_rare {source="Orphanet:156731"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type" RELATED [GARD:0009810] -synonym: "Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type" RELATED [OMIM:224400] -synonym: "Ddrd" RELATED [OMIM:224400] +synonym: "Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type" RELATED [] +synonym: "Ddrd" RELATED [] synonym: "dyssegmental dwarfism Rolland-Desbuquois type" RELATED [GARD:0009810] -synonym: "dyssegmental dwarfism, Rolland-Desbuquois type" RELATED [OMIM:224400] +synonym: "dyssegmental dwarfism, Rolland-Desbuquois type" RELATED [] synonym: "dyssegmental dysplasia Rolland-Desbuquois type" RELATED [GARD:0009810] -synonym: "dyssegmental dysplasia, Rolland-Desbuquois type" EXACT [OMIM:224400] +synonym: "dyssegmental dysplasia, Rolland-Desbuquois type" EXACT [icd11.foundation:1291444727, OMIM:224400, Orphanet:156731] xref: GARD:9810 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:156731/attributed", source="Orphanet:156731/ntbt", source="Orphanet:156731"} xref: icd11.foundation:1291444727 {source="MONDO:equivalentTo"} @@ -194216,12 +194246,12 @@ subset: orphanet_rare {source="Orphanet:1865"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type" RELATED [GARD:0002026] -synonym: "Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type" RELATED [OMIM:224410] -synonym: "DDSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224410] +synonym: "Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type" RELATED [] +synonym: "DDSH" RELATED ABBREVIATION [MONDO:Lexical] synonym: "dyssegmental dwarfism Silverman-Handmaker type" RELATED [GARD:0002026] -synonym: "dyssegmental dwarfism, Silverman-Handmaker type" RELATED [OMIM:224410] +synonym: "dyssegmental dwarfism, Silverman-Handmaker type" RELATED [] synonym: "dyssegmental dysplasia Silverman-Handmaker type" RELATED [GARD:0002026] -synonym: "dyssegmental dysplasia, Silverman-Handmaker type" RELATED [MONDO:Lexical, OMIM:224410] +synonym: "dyssegmental dysplasia, Silverman-Handmaker type" RELATED [MONDO:Lexical] xref: DOID:0090032 {source="MONDO:equivalentTo"} xref: GARD:2026 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="DOID:0090032", source="Orphanet:1865", source="Orphanet:1865/attributed", source="Orphanet:1865/ntbt"} @@ -194251,15 +194281,15 @@ subset: orphanet_rare {source="Orphanet:99657"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive torsion dystonia 2" EXACT [NCIT:C123415] -synonym: "dystonia 2, torsion, autosomal recessive" RELATED [MONDO:Lexical, OMIM:224500] -synonym: "dystonia musculorum deformans 2" RELATED [OMIM:224500] +synonym: "dystonia 2, torsion, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "dystonia musculorum deformans 2" RELATED [] synonym: "dystonia musculorum deformans type 2" RELATED [GARD:0002028] synonym: "dystonic disorder caused by mutation in HPCA" EXACT [MONDO:design_pattern] -synonym: "DYT2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:224500, Orphanet:99657] +synonym: "DYT2" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C123415, OMIM:224500, Orphanet:99657] synonym: "HPCA dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "primary dystonia, DYT2 type" RELATED [Orphanet:99657] +synonym: "primary dystonia, DYT2 type" RELATED [] synonym: "torsion dystonia 2, autosomal recessive type" RELATED [GARD:0002028] -synonym: "torsion dystonia type 2" EXACT [DOID:0090038, MONDORULE:1] +synonym: "torsion dystonia type 2" EXACT [MONDORULE:1] xref: DOID:0090038 {source="MONDO:equivalentTo"} xref: GARD:2028 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="Orphanet:99657/attributed", source="Orphanet:99657/ntbt", source="Orphanet:99657", source="DOID:0090038"} @@ -194293,14 +194323,14 @@ def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:15162", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Ear, patella, short stature syndrome" RELATED [OMIM:224690] -synonym: "Meier-Gorlin syndrome" RELATED [OMIM:224690] -synonym: "Meier-GORLIN syndrome 1" RELATED [OMIM:224690] -synonym: "Meier-Gorlin syndrome 1" EXACT [MONDO:Lexical, OMIM:224690] +synonym: "Ear, patella, short stature syndrome" RELATED [] +synonym: "Meier-Gorlin syndrome" RELATED [] +synonym: "Meier-GORLIN syndrome 1" RELATED [] +synonym: "Meier-Gorlin syndrome 1" EXACT [DOID:0080512, MONDO:Lexical, OMIM:224690] synonym: "Meier-Gorlin syndrome caused by mutation in ORC1" EXACT [MONDO:design_pattern] -synonym: "Meier-Gorlin syndrome type 1" EXACT [MONDORULE:1, OMIM:224690] -synonym: "MGORS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224690] -synonym: "microtia, absent patellae, micrognathia syndrome" RELATED [OMIM:224690] +synonym: "Meier-Gorlin syndrome type 1" EXACT [MONDORULE:1] +synonym: "MGORS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microtia, absent patellae, micrognathia syndrome" RELATED [] synonym: "ORC1 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080512 {source="MONDO:equivalentTo"} xref: GARD:15162 {source="MONDO:GARD"} @@ -194328,15 +194358,15 @@ subset: ordo_morphological_anomaly {source="Orphanet:1880"} subset: orphanet_rare {source="Orphanet:1880"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ebstein anomaly" EXACT [OMIM:224700] +synonym: "Ebstein anomaly" EXACT [DOID:14289, icd11.foundation:307157712, NCIT:C84681, OMIM:224700] synonym: "Ebstein anomaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Ebstein anomaly of the tricuspid valve" EXACT [Orphanet:1880] -synonym: "Ebstein malformation" RELATED [Orphanet:1880] -synonym: "Ebstein's anomaly" EXACT [DOID:14289, ICD9CM:746.2] -synonym: "Ebstein's anomaly (disorder) [ambiguous]" EXACT [DOID:14289] +synonym: "Ebstein malformation" RELATED [] +synonym: "Ebstein's anomaly" EXACT [DOID:14289, ICD9CM:746.2, NCIT:C84681] +synonym: "Ebstein's anomaly (disorder) [ambiguous]" EXACT [] synonym: "Ebstein's anomaly of common atrioventricular valve" EXACT [DOID:14289] synonym: "Ebstein's anomaly of right atrioventricular valve" EXACT [DOID:14289] -synonym: "Ebstein's anomaly of tricuspid valve" EXACT [NCIT:C84681] +synonym: "Ebstein's anomaly of tricuspid valve" EXACT [DOID:14289, NCIT:C84681] synonym: "Ebstein's malformation" RELATED [GARD:0006313] xref: DOID:14289 {source="MONDO:equivalentTo", source="EFO:0007244"} xref: EFO:0007244 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -194373,16 +194403,16 @@ subset: ordo_disorder {source="Orphanet:50944"} subset: orphanet_rare {source="Orphanet:50944"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "eccrine tumors with ectodermal dysplasia" RELATED [OMIM:224750] -synonym: "eccrine tumors-ectodermal dysplasia" EXACT [Orphanet:50944] +synonym: "eccrine tumors with ectodermal dysplasia" RELATED [] +synonym: "eccrine tumors-ectodermal dysplasia" EXACT [DOID:0111647, Orphanet:50944] synonym: "eccrine tumours with ectodermal dysplasia" RELATED OMO:0003005 [] -synonym: "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis" RELATED [OMIM:224750] -synonym: "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944] -synonym: "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944] -synonym: "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [Orphanet:50944] -synonym: "SCHOPF-Schulz-Passarge syndrome" RELATED [MONDO:Lexical, OMIM:224750] -synonym: "SChöPF-Schulz-Passarge syndrome" RELATED [Orphanet:50944] -synonym: "SSPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:224750, Orphanet:50944] +synonym: "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis" RELATED [] +synonym: "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [DOID:0111647, Orphanet:50944] +synonym: "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [DOID:0111647, Orphanet:50944] +synonym: "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [DOID:0111647, Orphanet:50944] +synonym: "SCHOPF-Schulz-Passarge syndrome" RELATED [MONDO:Lexical] +synonym: "SChöPF-Schulz-Passarge syndrome" RELATED [] +synonym: "SSPS" EXACT ABBREVIATION [DOID:0111647, MONDO:Lexical, OMIM:224750, Orphanet:50944] xref: DOID:0111647 {source="MONDO:equivalentTo"} xref: GARD:16649 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:50944/attributed", source="Orphanet:50944/ntbt", source="Orphanet:50944"} @@ -194410,7 +194440,7 @@ subset: orphanet_rare {source="Orphanet:1883"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital ectodermal dysplasia with hearing loss" RELATED [GARD:0009723] -synonym: "ectodermal dysplasia and neurosensory deafness" RELATED [OMIM:224800] +synonym: "ectodermal dysplasia and neurosensory deafness" RELATED [] synonym: "ectodermal dysplasia-sensorineural hearing loss syndrome" EXACT [Orphanet:1883] synonym: "hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers" RELATED [GARD:0009723] synonym: "Mikaelian syndrome" RELATED [GARD:0009723, MESH:C535757] @@ -194430,10 +194460,10 @@ name: ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiv subset: gard_rare {source="GARD:15163", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD10B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:224900] +synonym: "ECTD10B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [MONDO:Lexical, OMIM:224900] -synonym: "ectodermal dysplasia, anhidrotic" RELATED [OMIM:224900] -synonym: "ectodermal dysplasia, hypohidrotic" RELATED [OMIM:224900] +synonym: "ectodermal dysplasia, anhidrotic" RELATED [] +synonym: "ectodermal dysplasia, hypohidrotic" RELATED [] xref: DOID:0111665 {source="MONDO:equivalentTo"} xref: GARD:15163 {source="MONDO:GARD"} xref: MEDGEN:854356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -194453,7 +194483,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare subset: speculative -synonym: "Rosselli-Gulienetti syndrome" EXACT [OMIM:225000] +synonym: "Rosselli-Gulienetti syndrome" EXACT [icd11.foundation:1430451924, OMIM:225000] xref: icd11.foundation:1430451924 {source="MONDO:equivalentTo"} xref: MEDGEN:163221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563117 {source="MONDO:equivalentTo"} @@ -194475,7 +194505,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1812"} subset: orphanet_rare {source="Orphanet:1812"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum" RELATED [OMIM:225040] +synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum" RELATED [] xref: GARD:16578 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1812/attributed", source="Orphanet:1812/ntbt", source="Orphanet:1812"} xref: MEDGEN:347363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -194498,7 +194528,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "another syndrome" EXACT [GARD:0002049, Orphanet:1882] synonym: "ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia" RELATED [GARD:0002049] -synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia" RELATED [OMIM:225050] +synonym: "ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia" RELATED [] synonym: "HEDH syndrome" EXACT [GARD:0002049, OMIM:225050, Orphanet:1882] synonym: "hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia" RELATED [GARD:0002049] synonym: "hypohidrotic ectodermal dysplasia with hypothyroidism" RELATED [GARD:0002049] @@ -194531,26 +194561,26 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive ectodermal dysplasia" RELATED [GARD:0001045] synonym: "Bustos Simosa pinto Cisternas syndrome" RELATED [GARD:0001045] -synonym: "cleft lip with or without cleft palate, nonsyndromic, 7" RELATED [OMIM:225060] -synonym: "cleft lip-palate-ectodermal dysplasia syndrome" RELATED [DOID:0060773] -synonym: "cleft lip/palate-ectodermal dysplasia syndrome" EXACT [MONDO:0017911, MONDO:Lexical, OMIM:225060, Orphanet:3253] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 7" RELATED [] +synonym: "cleft lip-palate-ectodermal dysplasia syndrome" RELATED [] +synonym: "cleft lip/palate-ectodermal dysplasia syndrome" EXACT [MONDO:0017911, MONDO:Lexical, NCIT:C122656, OMIM:225060, Orphanet:3253] synonym: "cleft lip/palate-syndactyly-pili torti" RELATED [GARD:0000375] synonym: "cleft lip/palate-syndactyly-pili torti syndrome" EXACT [DOID:0060773, Orphanet:3253] -synonym: "CLEPD" RELATED ABBREVIATION [Orphanet:320317] -synonym: "CLPED1" RELATED ABBREVIATION [DOID:0060773, MONDO:Lexical, OMIM:225060, Orphanet:3253] +synonym: "CLEPD" RELATED ABBREVIATION [] +synonym: "CLPED1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ectodermal dysplasia margarita island type" RELATED [GARD:0001045] synonym: "ectodermal dysplasia type 4" RELATED [GARD:0001045] -synonym: "ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly" RELATED [GARD:0000375, OMIM:225060] -synonym: "ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly" RELATED DEPRECATED [GARD:0000375, OMIM:225060] -synonym: "ectodermal dysplasia, margarita Island type" RELATED [OMIM:225060] -synonym: "ectodermal dysplasia, type 4" RELATED [OMIM:225060] +synonym: "ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly" RELATED [GARD:0000375] +synonym: "ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly" RELATED DEPRECATED [GARD:0000375] +synonym: "ectodermal dysplasia, margarita Island type" RELATED [] +synonym: "ectodermal dysplasia, type 4" RELATED [] synonym: "ED4" RELATED ABBREVIATION [GARD:0001045] synonym: "margarita type of ectodermal dysplasia" EXACT [DOID:0060773] -synonym: "orofacial cleft 7" RELATED [OMIM:225060] +synonym: "orofacial cleft 7" RELATED [] synonym: "syndactyly-ectodermal dysplasia-cleft/lip palate" EXACT [DOID:0060773, Orphanet:3253] synonym: "Zlotogora syndrome" RELATED [GARD:0000375] synonym: "Zlotogora-Ogur syndrome" EXACT [OMIM:225060, Orphanet:3253] -synonym: "Zlotogora-Zilberman-Tenenbaum syndrome" EXACT [DOID:0060773, Orphanet:3253] +synonym: "Zlotogora-Zilberman-Tenenbaum syndrome" EXACT [DOID:0060773] xref: DOID:0060773 {source="MONDO:equivalentTo"} xref: GARD:375 {source="MONDO:GARD"} xref: MEDGEN:444067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -194575,11 +194605,11 @@ def: "An isolated ectopia lentis that has material basis in homozygous or compou subset: gard_rare {source="GARD:2060", source="MONDO:GARD"} subset: rare synonym: "autosomal recessive isolated ectopia lentis" RELATED [GARD:0002060] -synonym: "autosomal recessive isolated ectopia lentis 2" RELATED [DOID:0111149] +synonym: "autosomal recessive isolated ectopia lentis 2" RELATED [] synonym: "ECTOL2" EXACT ABBREVIATION [DOID:0111149, MONDO:Lexical, OMIM:225100] synonym: "ectopia lentis 2, isolated, autosomal recessive" EXACT [MONDO:Lexical, OMIM:225100] synonym: "ectopia lentis, isolated autosomal recessive" RELATED [GARD:0002060] -synonym: "ectopia lentis, isolated, autosomal recessive" EXACT [OMIM:225100, OMIM:genemap2] +synonym: "ectopia lentis, isolated, autosomal recessive" EXACT [] xref: DOID:0111149 {source="MONDO:equivalentTo"} xref: GARD:2060 {source="MONDO:GARD"} xref: MEDGEN:762100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -194595,8 +194625,8 @@ id: MONDO:0009153 name: ectopia lentis et pupillae subset: gard_rare {source="GARD:15164", source="MONDO:GARD"} subset: rare -synonym: "ectopia lentis et pupillae" EXACT [OMIM:225200] -synonym: "ectopia lentis with ectopia of pupil" RELATED [OMIM:225200] +synonym: "ectopia lentis et pupillae" EXACT [DOID:0111648, OMIM:225200] +synonym: "ectopia lentis with ectopia of pupil" RELATED [] xref: DOID:0111648 {source="MONDO:equivalentTo"} xref: GARD:15164 {source="MONDO:GARD"} xref: MEDGEN:301316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -194616,11 +194646,11 @@ subset: gard_rare {source="GARD:15165", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CHNG5" EXACT ABBREVIATION [DOID:0070125, MONDO:Lexical, OMIM:225250] -synonym: "congenital nongoitrous hypothyroidism 5" RELATED [DOID:0070125] -synonym: "hypothyroidism, congenital nongoitrous, 5" EXACT [OMIM:225250, OMIM:genemap2] +synonym: "congenital nongoitrous hypothyroidism 5" RELATED [] +synonym: "hypothyroidism, congenital nongoitrous, 5" EXACT [] synonym: "hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, nongoitrous, 5" EXACT [MONDO:Lexical, OMIM:225250] -synonym: "hypothyroidism, congenital, nongoitrous, type 5" EXACT [MONDORULE:1, OMIM:225250] +synonym: "hypothyroidism, congenital, nongoitrous, type 5" EXACT [MONDORULE:1] synonym: "NKX2-5 hypothyroidism, congenital, nongoitrous" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070125 {source="MONDO:equivalentTo"} xref: GARD:15165 {source="MONDO:GARD"} @@ -194653,10 +194683,10 @@ subset: orphanet_rare {source="Orphanet:1897"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy" RELATED [GARD:0002078] -synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome" RELATED [MONDO:Lexical, OMIM:225280] -synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome" EXACT [Orphanet:1897] -synonym: "EEM syndrome" EXACT CLINGEN_LABEL [OMIM:225280] -synonym: "EEMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225280] +synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome" RELATED [MONDO:Lexical] +synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome" EXACT [DOID:0111649, Orphanet:1897] +synonym: "EEM syndrome" EXACT CLINGEN_LABEL [DOID:0111649, OMIM:225280, Orphanet:1897] +synonym: "EEMS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111649 {source="MONDO:equivalentTo"} xref: GARD:2078 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1897", source="Orphanet:1897/attributed", source="Orphanet:1897/ntbt"} @@ -194705,12 +194735,12 @@ def: "Any split hand-foot malformation in which the cause of the disease is a mu subset: gard_rare {source="GARD:15166", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ectrodactyly, autosomal recessive" RELATED [OMIM:225300] +synonym: "ectrodactyly, autosomal recessive" RELATED [] synonym: "SHFM6" EXACT ABBREVIATION [DOID:0090026, MONDO:Lexical, OMIM:225300] synonym: "split hand-foot malformation caused by mutation in WNT10B" EXACT [MONDO:design_pattern] -synonym: "split hand-foot malformation type 6" EXACT [DOID:0090026, MONDORULE:1] -synonym: "split-hand/foot malformation 6" RELATED [MONDO:Lexical, OMIM:225300] -synonym: "split-hand/foot malformation type 6" EXACT [MONDORULE:1, OMIM:225300] +synonym: "split hand-foot malformation type 6" EXACT [MONDORULE:1] +synonym: "split-hand/foot malformation 6" RELATED [MONDO:Lexical] +synonym: "split-hand/foot malformation type 6" EXACT [MONDORULE:1] synonym: "WNT10B split hand-foot malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090026 {source="MONDO:equivalentTo"} xref: GARD:15166 {source="MONDO:GARD"} @@ -194733,17 +194763,17 @@ def: "Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited conn subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EDS 10" RELATED [OMIM:225310] -synonym: "EDS X" EXACT [Orphanet:75501] +synonym: "EDS 10" RELATED [] +synonym: "EDS X" EXACT [] synonym: "EDS10 (formerly)" RELATED [GARD:0008508] -synonym: "Ehlers-Danlos syndrome type 10" EXACT [Orphanet:75501] +synonym: "Ehlers-Danlos syndrome type 10" EXACT [] synonym: "Ehlers-Danlos syndrome type 10 (formerly)" RELATED [GARD:0008508] -synonym: "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality" EXACT [Orphanet:75501] -synonym: "Ehlers-Danlos syndrome, dysfibronectinemic type" RELATED [OMIM:225310] -synonym: "Ehlers-Danlos syndrome, fibronectin-deficient" EXACT [Orphanet:75501] -synonym: "Ehlers-Danlos syndrome, type 10" RELATED [OMIM:225310] +synonym: "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality" EXACT [OMIM:225310] +synonym: "Ehlers-Danlos syndrome, dysfibronectinemic type" RELATED [] +synonym: "Ehlers-Danlos syndrome, fibronectin-deficient" EXACT [] +synonym: "Ehlers-Danlos syndrome, type 10" RELATED [] synonym: "Ehlers-Danlos syndrome, type X (formerly)" RELATED [GARD:0008508] -synonym: "FN Abnormality" RELATED [OMIM:225310] +synonym: "FN Abnormality" RELATED [] xref: ICD10CM:Q79.6 {source="Orphanet:75501/attributed", source="Orphanet:75501/ntbt", source="Orphanet:75501"} xref: MEDGEN:346497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565600 {source="MONDO:equivalentTo"} @@ -194771,12 +194801,12 @@ synonym: "Cardiac valvular form of Ehlers-Danlos syndrome" RELATED [MESH:C536200 synonym: "Cardiac-valvular EDS" RELATED [GARD:0012613] synonym: "Cardiac-valvular Ehlers-Danlos syndrome" RELATED [GARD:0012613] synonym: "cvEDS" RELATED [GARD:0012613] -synonym: "EDS, cardiac valvular type" EXACT [Orphanet:230851] -synonym: "EDSCV" RELATED ABBREVIATION [OMIM:225320] +synonym: "EDS, cardiac valvular type" EXACT [] +synonym: "EDSCV" RELATED ABBREVIATION [] synonym: "Ehlers-Danlos syndrome, arthrochalasis type" RELATED [MESH:C536200] -synonym: "Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form" RELATED [OMIM:225320] +synonym: "Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form" RELATED [] synonym: "Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form" RELATED [MESH:C536200] -synonym: "Ehlers-Danlos syndrome, CARDIAC valvular type" RELATED [OMIM:225320] +synonym: "Ehlers-Danlos syndrome, CARDIAC valvular type" RELATED [] xref: DOID:0080730 {source="MONDO:equivalentTo"} xref: GARD:12613 {source="MONDO:GARD"} xref: ICD10CM:Q79.6 {source="Orphanet:230851", source="Orphanet:230851/attributed", source="Orphanet:230851/ntbt"} @@ -194809,17 +194839,17 @@ subset: orphanet_rare {source="Orphanet:1901"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dEDS" RELATED [GARD:0002089] -synonym: "dermatosparaxis" RELATED [OMIM:225410] +synonym: "dermatosparaxis" RELATED [] synonym: "dermatosparaxis EDS" RELATED [GARD:0002089] synonym: "dermatosparaxis Ehlers-Danlos syndrome" RELATED [GARD:0002089] -synonym: "EDS 7C" RELATED [OMIM:225410] -synonym: "EDS VIIC" EXACT [Orphanet:1901] -synonym: "EDS7C" RELATED ABBREVIATION [OMIM:225410] -synonym: "EDSDERMS" RELATED ABBREVIATION [OMIM:225410] -synonym: "Ehlers-Danlos syndrome type 7C" EXACT [Orphanet:1901] +synonym: "EDS 7C" RELATED [] +synonym: "EDS VIIC" EXACT [] +synonym: "EDS7C" RELATED ABBREVIATION [] +synonym: "EDSDERMS" RELATED ABBREVIATION [] +synonym: "Ehlers-Danlos syndrome type 7C" EXACT [icd11.foundation:445808781, Orphanet:1901] synonym: "Ehlers-Danlos syndrome type 7C (formerly)" RELATED [GARD:0002089] -synonym: "Ehlers-Danlos syndrome, dermatosparaxis type" EXACT CLINGEN_LABEL [OMIM:225410] -synonym: "Ehlers-Danlos syndrome, type VII, autosomal recessive" RELATED [OMIM:225410] +synonym: "Ehlers-Danlos syndrome, dermatosparaxis type" EXACT CLINGEN_LABEL [icd11.foundation:445808781, OMIM:225410] +synonym: "Ehlers-Danlos syndrome, type VII, autosomal recessive" RELATED [] xref: DOID:0080733 {source="MONDO:equivalentTo"} xref: GARD:2089 {source="MONDO:GARD"} xref: ICD10CM:Q79.6 {source="Orphanet:1901", source="Orphanet:1901/attributed", source="Orphanet:1901/ntbt"} @@ -194846,14 +194876,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:289"} subset: orphanet_rare {source="Orphanet:289"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Chondroectodermal dysplasia" EXACT [DOID:12714, ICD9CM:756.55, OMIM:225500, Orphanet:289] -synonym: "Ellis Van Creveld Syndrome" EXACT [NORD:1083] +synonym: "Chondroectodermal dysplasia" EXACT [DOID:12714, ICD9CM:756.55, NCIT:C84684, OMIM:225500, Orphanet:289] +synonym: "Ellis Van Creveld Syndrome" EXACT [NORD:1083, Orphanet:289] synonym: "Ellis Van Creveld syndrome" EXACT [Orphanet:289] -synonym: "Ellis-VAN Creveld syndrome" EXACT [OMIM:225500] -synonym: "Ellis-van Creveld syndrome" EXACT CLINGEN_LABEL [DOID:12714, MONDO:Lexical, OMIM:225500] +synonym: "Ellis-VAN Creveld syndrome" EXACT [DOID:12714, NCIT:C84684, OMIM:225500] +synonym: "Ellis-van Creveld syndrome" EXACT CLINGEN_LABEL [DOID:12714, MONDO:Lexical, NCIT:C84684, OMIM:225500] synonym: "EVC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:225500] synonym: "mesodermic dysplasia" EXACT [Orphanet:289] -synonym: "Mesoectodermal dysplasia" EXACT [OMIM:225500] +synonym: "Mesoectodermal dysplasia" EXACT [DOID:12714, OMIM:225500] xref: DOID:12714 {source="MONDO:equivalentTo"} xref: GARD:1301 {source="MONDO:GARD"} xref: ICD10CM:Q77.6 {source="DOID:12714", source="Orphanet:289/ntbt", source="Orphanet:289/inclusion", source="Orphanet:289"} @@ -194892,7 +194922,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009164 name: encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts synonym: "encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts" EXACT [OMIM:225740] -synonym: "Lyon syndrome" RELATED [OMIM:225740] +synonym: "Lyon syndrome" RELATED [] xref: MEDGEN:341669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565596 {source="MONDO:equivalentTo"} xref: OMIM:225740 {source="MONDO:equivalentTo"} @@ -194908,16 +194938,16 @@ def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a muta subset: gard_rare {source="GARD:15167", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Ags" RELATED [OMIM:225750] -synonym: "AGS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225750] -synonym: "Aicardi-Goutieres syndrome 1" EXACT [MONDO:Lexical, OMIM:225750] -synonym: "Aicardi-Goutieres syndrome 1, autosomal dominant" RELATED [OMIM:225750] -synonym: "Aicardi-Goutieres syndrome 1, dominant and recessive" EXACT [OMIM:225750, OMIM:genemap2] +synonym: "Ags" RELATED [] +synonym: "AGS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Aicardi-Goutieres syndrome 1" EXACT [MONDO:Lexical, NCIT:C165501, OMIM:225750] +synonym: "Aicardi-Goutieres syndrome 1, autosomal dominant" RELATED [] +synonym: "Aicardi-Goutieres syndrome 1, dominant and recessive" EXACT [] synonym: "Aicardi-Goutieres syndrome caused by mutation in TREX1" EXACT [MONDO:design_pattern] -synonym: "Aicardi-Goutieres syndrome type 1" EXACT [MONDORULE:1, OMIM:225750] -synonym: "Cree encephalitis" RELATED [OMIM:225750] -synonym: "encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" RELATED [OMIM:225750] -synonym: "Pseudotoxoplasmosis syndrome" RELATED [OMIM:225750] +synonym: "Aicardi-Goutieres syndrome type 1" EXACT [MONDORULE:1] +synonym: "Cree encephalitis" RELATED [] +synonym: "encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" RELATED [] +synonym: "Pseudotoxoplasmosis syndrome" RELATED [] synonym: "TREX1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15167 {source="MONDO:GARD"} xref: MEDGEN:162912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -194946,11 +194976,11 @@ subset: orphanet_rare {source="Orphanet:166063"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "encephalopathy fatal infantile with olivopontocerebellar hypoplasia" RELATED [GARD:0000343] -synonym: "encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia" RELATED [OMIM:225753] +synonym: "encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia" RELATED [] synonym: "fatal infantile encephalopathy with olivopontocerebellar hypoplasia" EXACT [Orphanet:166063] synonym: "olivopontocerebellar hypoplasia" EXACT [Orphanet:166063] synonym: "PCH4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:225753, Orphanet:166063] -synonym: "pontocerebellar hypoplasia, type 4" RELATED [MONDO:Lexical, OMIM:225753] +synonym: "pontocerebellar hypoplasia, type 4" RELATED [MONDO:Lexical] xref: DOID:0060273 {source="MONDO:equivalentTo"} xref: GARD:343 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:166063/attributed", source="Orphanet:166063/ntbt", source="Orphanet:166063"} @@ -194978,7 +195008,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bonnemann Meinecke Reich syndrome" RELATED [GARD:0002113] synonym: "encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration" RELATED [GARD:0002113] -synonym: "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" RELATED [OMIM:225755] +synonym: "encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration" RELATED [] synonym: "encephalopathy-intracerebral calcification-retinal degeneration syndrome" EXACT [Orphanet:1261] xref: GARD:2113 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:1261/attributed", source="Orphanet:1261/ntbt", source="Orphanet:1261"} @@ -195006,14 +195036,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:221126"} subset: orphanet_rare {source="Orphanet:221126"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebral proliferative glomeruloid vasculopathy" EXACT [Orphanet:221126] -synonym: "Encephaloclastic proliferative vasculopathy" EXACT [OMIM:225790, Orphanet:221126] -synonym: "Fowler syndrome" EXACT CLINGEN_LABEL [] -synonym: "hydranencephaly, fowler type" RELATED [OMIM:225790] -synonym: "hydrocephaly/hydranencephaly due to cerebral vasculopathy" EXACT [OMIM:225790, Orphanet:221126] -synonym: "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome" RELATED [MONDO:Lexical, OMIM:225790] -synonym: "proliferative vasculopathy and hydranencephaly/hydrocephaly" EXACT [Orphanet:221126] -synonym: "PVHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:225790] +synonym: "cerebral proliferative glomeruloid vasculopathy" EXACT [DOID:0111666, Orphanet:221126] +synonym: "Encephaloclastic proliferative vasculopathy" EXACT [DOID:0111666, OMIM:225790, Orphanet:221126] +synonym: "Fowler syndrome" EXACT CLINGEN_LABEL [DOID:0111666, OMIM:225790] +synonym: "hydranencephaly, fowler type" RELATED [] +synonym: "hydrocephaly/hydranencephaly due to cerebral vasculopathy" EXACT [DOID:0111666, OMIM:225790, Orphanet:221126] +synonym: "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome" RELATED [MONDO:Lexical] +synonym: "proliferative vasculopathy and hydranencephaly/hydrocephaly" EXACT [DOID:0111666, Orphanet:221126] +synonym: "PVHH" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111666 {source="MONDO:equivalentTo"} xref: GARD:17138 {source="MONDO:GARD"} xref: ICD9:596.59 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -195038,10 +195068,10 @@ subset: ordo_disorder {source="Orphanet:2022"} subset: orphanet_rare {source="Orphanet:2022"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EFE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226000] -synonym: "Elastomyofibrosis" EXACT [DOID:12929] -synonym: "endocardial fibroelastosis" EXACT [MONDO:Lexical, OMIM:226000] -synonym: "endomyocardial fibroelastosis" RELATED [Orphanet:2022] +synonym: "EFE" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Elastomyofibrosis" EXACT [DOID:12929, ICD10CM:I42.4, icd11.foundation:1971033419] +synonym: "endocardial fibroelastosis" EXACT [DOID:12929, ICD10CM:I42.4, icd11.foundation:1971033419, MONDO:Lexical, NCIT:C98922, OMIM:226000, Orphanet:2022] +synonym: "endomyocardial fibroelastosis" RELATED [] xref: DOID:12929 {source="MONDO:equivalentTo", source="EFO:0007251"} xref: EFO:0007251 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6336 {source="MONDO:GARD"} @@ -195091,7 +195121,7 @@ id: MONDO:0009172 name: enterocolitis def: "An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use." [NCIT:C79573] subset: otar {source="MONDO:OTAR"} -synonym: "enterocolitis" EXACT [MONDO:ambiguous, OMIM:226150] +synonym: "enterocolitis" EXACT [MONDO:ambiguous, NCIT:C79573, OMIM:226150] synonym: "enterocolitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:1001481 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0004387 {source="MONDO:otherHierarchy"} @@ -195115,9 +195145,9 @@ subset: ordo_disorder {source="Orphanet:168601"} subset: orphanet_rare {source="Orphanet:168601"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital enterokinase deficiency" EXACT [Orphanet:168601] -synonym: "enterokinase deficiency" RELATED [OMIM:226200] -synonym: "enteropeptidase deficiency" RELATED [OMIM:226200] +synonym: "congenital enterokinase deficiency" EXACT [DOID:0111667, Orphanet:168601] +synonym: "enterokinase deficiency" RELATED [] +synonym: "enteropeptidase deficiency" RELATED [] xref: DOID:0111667 {source="MONDO:equivalentTo"} xref: GARD:17038 {source="MONDO:GARD"} xref: ICD10CM:K90.8 {source="Orphanet:168601", source="Orphanet:168601/attributed", source="Orphanet:168601/ntbt"} @@ -195143,13 +195173,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:566175"} subset: orphanet_rare {source="Orphanet:566175"} subset: rare -synonym: "CHAPLE" RELATED ABBREVIATION [OMIM:226300] -synonym: "complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy" RELATED [OMIM:226300] -synonym: "complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy" RELATED [OMIM:226300] +synonym: "CHAPLE" RELATED ABBREVIATION [] +synonym: "complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy" RELATED [] +synonym: "complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy" RELATED [] synonym: "enteropathy, exudative" EXACT [DOID:10611] -synonym: "enteropathy, PROTEIN-losing" RELATED [OMIM:226300] +synonym: "enteropathy, PROTEIN-losing" RELATED [] synonym: "exudative enteropathy" EXACT [DOID:10611] -synonym: "protein-losing enteropathy" EXACT [MONDO:ambiguous] +synonym: "protein-losing enteropathy" EXACT [DOID:10611, icd11.foundation:1821383469, MONDO:ambiguous] synonym: "protein-losing enteropathy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:10611 {source="MONDO:equivalentTo"} xref: GARD:15003 {source="MONDO:GARD"} @@ -195179,9 +195209,9 @@ subset: orphanet_rare {source="Orphanet:3165"} subset: rare synonym: "diffuse fasciitis with eosinophilia" EXACT [Orphanet:3165] synonym: "EF" RELATED ABBREVIATION [GARD:0006351] -synonym: "eosinophilic fasciitis" EXACT [MONDO:ambiguous, OMIM:226350] +synonym: "eosinophilic fasciitis" EXACT [icd11.foundation:1977389237, MONDO:ambiguous, NCIT:C112116, OMIM:226350, Orphanet:3165] synonym: "eosinophilic fasciitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "Shulman syndrome" EXACT [Orphanet:3165] +synonym: "Shulman syndrome" EXACT [icd11.foundation:1977389237, NCIT:C112116, Orphanet:3165] xref: GARD:6351 {source="MONDO:GARD"} xref: HP:0045029 {source="MONDO:otherHierarchy"} xref: ICD10CM:M35.4 {source="Orphanet:3165/e", source="Orphanet:3165"} @@ -195209,9 +195239,9 @@ subset: ordo_disorder {source="Orphanet:302"} subset: orphanet_rare {source="Orphanet:302"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epidermodysplasia verruciformis" EXACT CLINGEN_LABEL [MONDO:Lexical] -synonym: "EV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226400] -synonym: "ever" RELATED [OMIM:226400] +synonym: "epidermodysplasia verruciformis" EXACT CLINGEN_LABEL [DOID:13777, icd11.foundation:1191479808, MONDO:Lexical, NCIT:C126877] +synonym: "EV" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ever" RELATED [] synonym: "Lewandowsky-Lutz dysplasia" EXACT [NCIT:C126877] synonym: "Lewandowsky-Lutz syndrome" EXACT [Orphanet:302] synonym: "Lutz-Lewandowsky epidermodysplasia verruciformis" EXACT [Orphanet:302] @@ -195247,8 +195277,8 @@ subset: rare synonym: "epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders" RELATED [GARD:0000299] synonym: "epidermolysis bullosa, late-onset localised junctional, with intellectual disability" RELATED OMO:0003005 [] synonym: "epidermolysis bullosa, late-onset localised junctional, with mental retardation" RELATED OMO:0003005 [] -synonym: "epidermolysis bullosa, late-onset localized junctional, with intellectual disability" RELATED [OMIM:226440] -synonym: "epidermolysis bullosa, late-onset localized junctional, with mental retardation" RELATED DEPRECATED [OMIM:226440] +synonym: "epidermolysis bullosa, late-onset localized junctional, with intellectual disability" RELATED [] +synonym: "epidermolysis bullosa, late-onset localized junctional, with mental retardation" RELATED DEPRECATED [] xref: GARD:299 {source="MONDO:GARD"} xref: ICD10CM:Q81.8 {source="Orphanet:231556", source="Orphanet:231556/attributed", source="Orphanet:231556/ntbt"} xref: MEDGEN:341663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -195265,8 +195295,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "epidermolysis bullosa dystrophica Neurotrophica" EXACT [OMIM:226500] -synonym: "epidermolysis bullosa progressiva, recessive" RELATED [OMIM:226500] -synonym: "epidermolysis bullosa with congenital deafness" RELATED [OMIM:226500] +synonym: "epidermolysis bullosa progressiva, recessive" RELATED [] +synonym: "epidermolysis bullosa with congenital deafness" RELATED [] xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:78666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562637 {source="MONDO:equivalentTo"} @@ -195290,27 +195320,27 @@ subset: rare synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" EXACT [DOID:0060642, Orphanet:79408] synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" EXACT [DOID:0060642, Orphanet:79408] synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)" RELATED [GARD:0006308] -synonym: "dystrophic epidermolysis bullosa, autosomal recessive" RELATED [OMIM:226600] -synonym: "EBD inversa" EXACT [OMIM:226600, OMIM:genemap2] -synonym: "epidermolysis bullosa dystrophica inversa, autosomal recessive" RELATED [OMIM:226600] -synonym: "epidermolysis bullosa dystrophica, AR" EXACT [OMIM:226600, OMIM:genemap2] -synonym: "epidermolysis bullosa dystrophica, autosomal recessive" RELATED [MONDO:Lexical, OMIM:226600] -synonym: "epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant" RELATED [OMIM:226600] -synonym: "epidermolysis bullosa dystrophica, autosomal recessive, modifier of" EXACT [OMIM:226600, OMIM:genemap2] +synonym: "dystrophic epidermolysis bullosa, autosomal recessive" RELATED [] +synonym: "EBD inversa" EXACT [] +synonym: "epidermolysis bullosa dystrophica inversa, autosomal recessive" RELATED [] +synonym: "epidermolysis bullosa dystrophica, AR" EXACT [] +synonym: "epidermolysis bullosa dystrophica, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant" RELATED [] +synonym: "epidermolysis bullosa dystrophica, autosomal recessive, modifier of" EXACT [] synonym: "epidermolysis bullosa dystrophica, generalised severe, autosomal recessive" RELATED OMO:0003005 [] -synonym: "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive" RELATED [OMIM:226600] -synonym: "epidermolysis bullosa dystrophica, Hallopeau-Siemens type" RELATED [OMIM:226600] -synonym: "RDEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226600] +synonym: "epidermolysis bullosa dystrophica, generalized severe, autosomal recessive" RELATED [] +synonym: "epidermolysis bullosa dystrophica, Hallopeau-Siemens type" RELATED [] +synonym: "RDEB" RELATED ABBREVIATION [MONDO:Lexical] synonym: "RDEB generalisata gravis" EXACT [Orphanet:79408] synonym: "RDEB, Hallopeau-Siemens type" EXACT [DOID:0060642, Orphanet:79408] synonym: "RDEB, severe generalised" RELATED OMO:0003005 [] synonym: "RDEB, severe generalized" RELATED [GARD:0006308] -synonym: "RDEB-sev gen" EXACT [Orphanet:79408] +synonym: "RDEB-sev gen" EXACT [] synonym: "recessive dystrophic epidermolysis bullosa, severe generalised" RELATED OMO:0003005 [] synonym: "recessive dystrophic epidermolysis bullosa, severe generalized" RELATED [GARD:0006308] synonym: "severe generalised RDEB" NARROW OMO:0003005 [] synonym: "severe generalised recessive dystrophic epidermolysis bullosa" NARROW OMO:0003005 [] -synonym: "severe generalized RDEB" NARROW [DOID:0060642, Orphanet:79408] +synonym: "severe generalized RDEB" NARROW [DOID:0060642] synonym: "severe generalized recessive dystrophic epidermolysis bullosa" NARROW [DOID:0060642] xref: DOID:0060642 {source="MONDO:equivalentTo"} xref: GARD:6308 {source="MONDO:GARD"} @@ -195336,18 +195366,18 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epidermolysis bullosa Junctionalis, Disentis type" RELATED [OMIM:226650] -synonym: "epidermolysis bullosa Junctionalis, non-Herlitz type" RELATED [OMIM:226650] -synonym: "epidermolysis bullosa Junctionalis, progressive" RELATED [OMIM:226650] -synonym: "epidermolysis bullosa Junctionalis, severe Nonlethal" RELATED [OMIM:226650] +synonym: "epidermolysis bullosa Junctionalis, Disentis type" RELATED [] +synonym: "epidermolysis bullosa Junctionalis, non-Herlitz type" RELATED [] +synonym: "epidermolysis bullosa Junctionalis, progressive" RELATED [] +synonym: "epidermolysis bullosa Junctionalis, severe Nonlethal" RELATED [] synonym: "epidermolysis bullosa, generalised atrophic benign" RELATED OMO:0003005 [] -synonym: "epidermolysis bullosa, generalized atrophic benign" RELATED [OMIM:226650] -synonym: "epidermolysis bullosa, junctional, Localisata variant" RELATED [OMIM:226650] -synonym: "epidermolysis bullosa, junctional, non-Herlitz type" RELATED [OMIM:226650] -synonym: "JEB-I" RELATED [OMIM:226650] +synonym: "epidermolysis bullosa, generalized atrophic benign" RELATED [] +synonym: "epidermolysis bullosa, junctional, Localisata variant" RELATED [] +synonym: "epidermolysis bullosa, junctional, non-Herlitz type" RELATED [] +synonym: "JEB-I" RELATED [] synonym: "JEB-nH" RELATED [GARD:0002151] -synonym: "JEN-nH" EXACT [Orphanet:89840] -synonym: "junctional epidermolysis bullosa inversa" RELATED [OMIM:226650] +synonym: "JEN-nH" EXACT [] +synonym: "junctional epidermolysis bullosa inversa" RELATED [] xref: ICD10CM:Q81.8 {source="Orphanet:89840/attributed", source="Orphanet:89840/ntbt", source="Orphanet:89840"} xref: ICD9:757.39 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:82798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -195374,16 +195404,16 @@ subset: ordo_disorder {source="Orphanet:257"} subset: orphanet_rare {source="Orphanet:257"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EBS-MD" EXACT [GARD:0002137, Orphanet:257] -synonym: "EBSMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226670] +synonym: "EBS-MD" EXACT ABBREVIATION [GARD:0002137, Orphanet:257] +synonym: "EBSMD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Epidermolysa bullosa simplex and limb girdle muscular dystrophy" RELATED [GARD:0002137] synonym: "Epidermolysa bullosa simplex with muscular dystrophy" RELATED [GARD:0002137] synonym: "epidermolysis bullosa simplex - limb girdle muscular dystrophy" RELATED [GARD:0002137] -synonym: "epidermolysis bullosa simplex 5B, with muscular dystrophy" EXACT [OMIM:226670, OMIM:genemap2] +synonym: "epidermolysis bullosa simplex 5B, with muscular dystrophy" EXACT [OMIM:226670] synonym: "epidermolysis bullosa simplex and limb-girdle muscular dystrophy" EXACT [DOID:0090017, OMIM:226670] -synonym: "epidermolysis bullosa simplex with muscular dystrophy" EXACT [MONDO:Lexical, OMIM:226670] +synonym: "epidermolysis bullosa simplex with muscular dystrophy" EXACT [DOID:0090017, MONDO:Lexical, OMIM:226670, Orphanet:257] synonym: "limb-girdle muscular dystrophy with epidermolysis bullosa simplex" EXACT [DOID:0090017, Orphanet:257] -synonym: "MD-EBS" RELATED [GARD:0002137, OMIM:226670] +synonym: "MD-EBS" RELATED [GARD:0002137] synonym: "MDEBS" RELATED ABBREVIATION [GARD:0002137] xref: DOID:0090017 {source="MONDO:equivalentTo"} xref: GARD:2137 {source="MONDO:GARD"} @@ -195414,20 +195444,20 @@ subset: ordo_disorder {source="Orphanet:79404"} subset: orphanet_rare {source="Orphanet:79404"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epidermolysis bullosa Junctionalis, Herlitz type" RELATED [OMIM:226700] -synonym: "epidermolysis bullosa letalis" EXACT [DOID:0060737, Orphanet:79404] -synonym: "epidermolysis bullosa, junctional, Herlitz type" RELATED [OMIM:226700] -synonym: "epidermolysis bullosa, junctional, Herlitz-Pearson type" RELATED [OMIM:226700] +synonym: "epidermolysis bullosa Junctionalis, Herlitz type" RELATED [] +synonym: "epidermolysis bullosa letalis" EXACT [DOID:0060737, OMIM:226700, Orphanet:79404] +synonym: "epidermolysis bullosa, junctional, Herlitz type" RELATED [] +synonym: "epidermolysis bullosa, junctional, Herlitz-Pearson type" RELATED [] synonym: "Herlitz type epidermolysis bullosa junctionalis" EXACT [DOID:0060737] synonym: "Herlitz-Pearson type epidermolysis bullosa" RELATED [GARD:0002153] synonym: "Herlitz-Pearson-type epidermolysis bullosa" EXACT [DOID:0060737, OMIM:226700] synonym: "JEB, generalised severe" EXACT OMO:0003005 [] -synonym: "JEB, generalized severe" EXACT [Orphanet:79404] -synonym: "JEB-H" EXACT [DOID:0060737, Orphanet:79404] +synonym: "JEB, generalized severe" EXACT [] +synonym: "JEB-H" EXACT ABBREVIATION [DOID:0060737, Orphanet:79404] synonym: "JEB-Herlitz type" EXACT [DOID:0060737, OMIM:226700] synonym: "junctional epidermolysis bullosa generalisata gravis" EXACT [DOID:0060737, Orphanet:79404] synonym: "junctional epidermolysis bullosa, generalised severe" RELATED OMO:0003005 [] -synonym: "junctional epidermolysis bullosa, generalized severe" RELATED [Orphanet:79404] +synonym: "junctional epidermolysis bullosa, generalized severe" RELATED [] synonym: "junctional epidermolysis bullosa, Herlitz type" RELATED [GARD:0002153] synonym: "junctional epidermolysis bullosa, Herlitz-Pearson type" EXACT [DOID:0060737, Orphanet:79404] xref: DOID:0060737 {source="MONDO:equivalentTo"} @@ -195455,19 +195485,19 @@ subset: ordo_disorder {source="Orphanet:79403"} subset: orphanet_rare {source="Orphanet:79403"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aplasia cutis congenita with gastrointestinal atresia" RELATED [OMIM:226730] +synonym: "aplasia cutis congenita with gastrointestinal atresia" RELATED [] synonym: "Carmi syndrome" EXACT [DOID:0060733, OMIM:226730, Orphanet:79403] -synonym: "EB-Pa-ACC" RELATED [OMIM:226730] -synonym: "epidermolysis bullosa JUNCTIONALIS with pyloric atresia" RELATED [OMIM:226730] -synonym: "epidermolysis bullosa junctionalis with pyloric atresia" EXACT [DOID:0060733] +synonym: "EB-Pa-ACC" RELATED [] +synonym: "epidermolysis bullosa JUNCTIONALIS with pyloric atresia" RELATED [] +synonym: "epidermolysis bullosa junctionalis with pyloric atresia" EXACT [DOID:0060733, OMIM:226730] synonym: "epidermolysis bullosa with pyloric atresia" RELATED [GARD:0009694] -synonym: "epidermolysis bullosa, junctional, with pyloric atresia" RELATED [OMIM:226730] -synonym: "epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita" RELATED [OMIM:226730] -synonym: "epidermolysis bullosa, junctional, with pyloric stenosis" EXACT [OMIM:226730, OMIM:genemap2] -synonym: "JEB-PA" EXACT [DOID:0060733, Orphanet:79403] -synonym: "JEB-Pa" RELATED [OMIM:226730] +synonym: "epidermolysis bullosa, junctional, with pyloric atresia" RELATED [] +synonym: "epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita" RELATED [] +synonym: "epidermolysis bullosa, junctional, with pyloric stenosis" EXACT [] +synonym: "JEB-PA" EXACT ABBREVIATION [DOID:0060733, OMIM:226730, Orphanet:79403] +synonym: "JEB-Pa" RELATED [] synonym: "junctional epidermolysis bullosa - pyloric atresia" RELATED [GARD:0009694] -synonym: "junctional epidermolysis bullosa with pyloric atresia" EXACT [OMIM:226730] +synonym: "junctional epidermolysis bullosa with pyloric atresia" EXACT [DOID:0060733, icd11.foundation:1877890811, OMIM:226730, Orphanet:79403] synonym: "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT [DOID:0060733] xref: DOID:0060733 {source="MONDO:equivalentTo"} xref: GARD:9694 {source="MONDO:GARD"} @@ -195506,16 +195536,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:1946"} subset: orphanet_rare {source="Orphanet:1946"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amelocerebrohypohidrotic syndrome" EXACT CLINGEN_LABEL [] -synonym: "epilepsy and Yellow teeth" RELATED [OMIM:226750] +synonym: "amelocerebrohypohidrotic syndrome" EXACT CLINGEN_LABEL [DOID:0111668, Orphanet:1946] +synonym: "epilepsy and Yellow teeth" RELATED [] synonym: "epilepsy dementia amelogenesis imperfecta" RELATED [GARD:0003128] -synonym: "epilepsy, dementia, and amelogenesis imperfecta" RELATED [OMIM:226750] -synonym: "epilepsy-dementia-amelogenesis imperfecta syndrome" EXACT [Orphanet:1946] -synonym: "Kohlschutter syndrome" RELATED [OMIM:226750] +synonym: "epilepsy, dementia, and amelogenesis imperfecta" RELATED [] +synonym: "epilepsy-dementia-amelogenesis imperfecta syndrome" EXACT [DOID:0111668, Orphanet:1946] +synonym: "Kohlschutter syndrome" RELATED [] synonym: "Kohlschutter Tonz syndrome" RELATED [GARD:0003128] -synonym: "KOHLSCHUTTER-Tonz syndrome" RELATED [MONDO:Lexical, OMIM:226750] -synonym: "Kohlschutter-Tonz syndrome" EXACT [Orphanet:1946] -synonym: "KTZS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:226750] +synonym: "KOHLSCHUTTER-Tonz syndrome" RELATED [MONDO:Lexical] +synonym: "Kohlschutter-Tonz syndrome" EXACT [DOID:0111668, OMIM:226750] +synonym: "KTZS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111668 {source="MONDO:equivalentTo"} xref: GARD:3128 {source="MONDO:GARD"} xref: ICD10CM:G40.8 {source="Orphanet:1946/attributed", source="Orphanet:1946/ntbt", source="Orphanet:1946"} @@ -195532,7 +195562,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0009186 name: epilepsy, photogenic, with spastic diplegia and intellectual disability -synonym: "epilepsy, photogenic, with spastic diplegia and intellectual disability" EXACT [OMIM:226800] +synonym: "epilepsy, photogenic, with spastic diplegia and intellectual disability" EXACT [] synonym: "epilepsy, photogenic, with spastic diplegia and mental retardation" EXACT DEPRECATED [OMIM:226800] xref: MEDGEN:347333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565587 {source="MONDO:equivalentTo"} @@ -195555,7 +195585,7 @@ synonym: "celiac disease, epilepsy, and cerebral calcification syndrome" EXACT [ synonym: "coeliac disease epilepsy occipital calcifications" RELATED OMO:0003005 [] synonym: "coeliac disease, epilepsy, and cerebral calcification syndrome" EXACT OMO:0003005 [] synonym: "epilepsy occipital calcifications" RELATED [GARD:0002166] -synonym: "epilepsy with bilateral occipital calcifications" RELATED [OMIM:226810] +synonym: "epilepsy with bilateral occipital calcifications" RELATED [] synonym: "familial unilateral and bilateral occipital calcifications and epilepsy" RELATED [GARD:0002166] xref: GARD:2166 {source="MONDO:GARD"} xref: MEDGEN:341654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -195576,7 +195606,7 @@ subset: orphanet_rare {source="Orphanet:1951"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "epilepsy telangiectasia" RELATED [GARD:0002168] -synonym: "epilepsy-telangiectasia" RELATED [OMIM:226850] +synonym: "epilepsy-telangiectasia" RELATED [] synonym: "intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" RELATED [GARD:0002168] synonym: "mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency" RELATED DEPRECATED [GARD:0002168] xref: GARD:2168 {source="MONDO:GARD"} @@ -195602,20 +195632,20 @@ subset: orphanet_rare {source="Orphanet:93307"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive multiple epiphyseal dysplasia" EXACT [Orphanet:93307] -synonym: "EDM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:226900, Orphanet:93307] +synonym: "EDM4" EXACT ABBREVIATION [DOID:0070300, MONDO:Lexical, OMIM:226900, Orphanet:93307] synonym: "epiphyseal dysplasia multiple 4" RELATED [GARD:0009793] -synonym: "epiphyseal dysplasia, multiple, 4" RELATED [MONDO:Lexical, OMIM:226900] -synonym: "epiphyseal dysplasia, multiple, type 4" EXACT [MONDORULE:1, OMIM:226900] -synonym: "MED4" EXACT ABBREVIATION [Orphanet:93307] +synonym: "epiphyseal dysplasia, multiple, 4" RELATED [MONDO:Lexical] +synonym: "epiphyseal dysplasia, multiple, type 4" EXACT [MONDORULE:1] +synonym: "MED4" EXACT ABBREVIATION [DOID:0070300, Orphanet:93307] synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2" EXACT [] synonym: "multiple epiphyseal dysplasia 4" RELATED [GARD:0009793] -synonym: "multiple epiphyseal dysplasia with Bilayered patellae" RELATED [OMIM:226900] -synonym: "multiple epiphyseal dysplasia with clubfoot" RELATED [OMIM:226900] +synonym: "multiple epiphyseal dysplasia with Bilayered patellae" RELATED [] +synonym: "multiple epiphyseal dysplasia with clubfoot" RELATED [] synonym: "multiple epiphyseal dysplasia with double-layered patella" RELATED [GARD:0009793] -synonym: "multiple epiphyseal dysplasia, autosomal recessive" RELATED [OMIM:226900] -synonym: "Polyepiphyseal dysplasia type 4" EXACT [Orphanet:93307] +synonym: "multiple epiphyseal dysplasia, autosomal recessive" RELATED [] +synonym: "Polyepiphyseal dysplasia type 4" EXACT [DOID:0070300, Orphanet:93307] synonym: "Recessive Multiple Epiphyseal Dysplasia" EXACT [NORD:1881] -synonym: "rMED" EXACT [Orphanet:93307] +synonym: "rMED" EXACT ABBREVIATION [DOID:0070300, Orphanet:93307] synonym: "SLC26A2 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0070300 {source="MONDO:equivalentTo"} xref: GARD:9793 {source="MONDO:GARD"} @@ -195660,8 +195690,8 @@ synonym: "epiphyseal dysplasia, microcephaly and nystagmus" RELATED [GARD:000026 synonym: "epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy" EXACT [OMIM:226960] synonym: "epiphyseal dysplasia-microcephaly-nystagmus syndrome" EXACT [Orphanet:1824] synonym: "Lowry Wood syndrome" EXACT [GARD:0000264] -synonym: "Lowry-Wood syndrome" EXACT [OMIM:226960] -synonym: "LWS" EXACT ABBREVIATION [GARD:0000264] +synonym: "Lowry-Wood syndrome" EXACT [icd11.foundation:1713071905, OMIM:226960, Orphanet:1824] +synonym: "LWS" EXACT ABBREVIATION [GARD:0000264, OMIM:226960] xref: GARD:264 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:1824", source="Orphanet:1824/attributed", source="Orphanet:1824/ntbt"} xref: icd11.foundation:1713071905 {source="MONDO:equivalentTo"} @@ -195691,13 +195721,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "early-onset diabetes mellitus with multiple epiphyseal dysplasia" EXACT [Orphanet:1667] synonym: "epiphyseal dysplasia multiple with early-onset diabetes mellitus" RELATED [GARD:0005589] -synonym: "epiphyseal dysplasia, multiple, with early-onset diabetes mellitus" RELATED [OMIM:226980] +synonym: "epiphyseal dysplasia, multiple, with early-onset diabetes mellitus" RELATED [] synonym: "IDDM-MED syndrome" RELATED [GARD:0005589] -synonym: "Iddm-Med syndrome" RELATED [OMIM:226980] +synonym: "Iddm-Med syndrome" RELATED [] synonym: "MED-IDDM syndrome" RELATED [GARD:0005589] -synonym: "Med-Iddm syndrome" RELATED [OMIM:226980] +synonym: "Med-Iddm syndrome" RELATED [] synonym: "Wolcott Rallison syndrome" RELATED [GARD:0005589] -synonym: "Wolcott-Rallison syndrome" EXACT CLINGEN_LABEL [OMIM:226980] +synonym: "Wolcott-Rallison syndrome" EXACT CLINGEN_LABEL [DOID:0090060, icd11.foundation:2096915129, NCIT:C131007, OMIM:226980, Orphanet:1667] synonym: "WRS" EXACT ABBREVIATION [Orphanet:1667] xref: DOID:0090060 {source="MONDO:equivalentTo"} xref: GARD:5589 {source="MONDO:GARD"} @@ -195745,14 +195775,14 @@ synonym: "CEBV" RELATED ABBREVIATION [GARD:0009534] synonym: "chronic active Epstein-Barr disease" RELATED [GARD:0009534] synonym: "chronic active Epstein-Barr virus infection" RELATED [GARD:0009534] synonym: "chronic EBV infection syndrome" EXACT [Orphanet:2566] -synonym: "chronic Epstein-Barr virus infection syndrome" EXACT [GARD:0009534] -synonym: "Epstein-Barr VIRUS, susceptibility to chronic infection by" RELATED [OMIM:226990] -synonym: "IMD32B" EXACT ABBREVIATION [OMIM:226990] -synonym: "immunodeficiency 32B" EXACT [OMIM:226990] -synonym: "immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive" EXACT [OMIM:226990, OMIM:genemap2] +synonym: "chronic Epstein-Barr virus infection syndrome" EXACT [GARD:0009534, Orphanet:2566] +synonym: "Epstein-Barr VIRUS, susceptibility to chronic infection by" RELATED [] +synonym: "IMD32B" EXACT ABBREVIATION [DOID:0111985, OMIM:226990] +synonym: "immunodeficiency 32B" EXACT [DOID:0111985, OMIM:226990] +synonym: "immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive" EXACT [DOID:0111985] synonym: "immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive" EXACT [OMIM:226990] -synonym: "IRF8 deficiency, autosomal recessive" EXACT [OMIM:614894] -synonym: "monocyte and dendritic cell deficiency, autosomal recessive" EXACT [OMIM:614894] +synonym: "IRF8 deficiency, autosomal recessive" EXACT [OMIM:226990] +synonym: "monocyte and dendritic cell deficiency, autosomal recessive" EXACT [] xref: DOID:0111985 {source="MONDO:equivalentTo"} xref: GARD:9534 {source="MONDO:GARD"} xref: ICD10CM:B27.0 {source="Orphanet:2566/ntbt", source="Orphanet:2566"} @@ -195789,11 +195819,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:999"} subset: orphanet_rare {source="Orphanet:999"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BADS" RELATED ABBREVIATION [OMIM:227010] +synonym: "BADS" RELATED ABBREVIATION [] synonym: "BADS syndrome" RELATED [MESH:C562663] -synonym: "black locks with albinism and deafness syndrome" RELATED [MESH:C562663, OMIM:227010] +synonym: "black locks with albinism and deafness syndrome" RELATED [MESH:C562663] synonym: "black locks, oculocutaneous albinism, and deafness of the sensorineural type" RELATED [] -synonym: "ermine phenotype" EXACT [OMIM:227010] +synonym: "ermine phenotype" EXACT [icd11.foundation:2048725507, OMIM:227010, Orphanet:999] synonym: "O'Doherty syndrome" EXACT [Orphanet:999] synonym: "pigmentary disorder with hearing loss" EXACT [OMIM:227010, Orphanet:999] xref: GARD:407 {source="MONDO:GARD"} @@ -195819,11 +195849,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:98871"} subset: orphanet_rare {source="Orphanet:98871"} subset: rare -synonym: "erythroblastopenia, transient" RELATED [OMIM:227050] +synonym: "erythroblastopenia, transient" RELATED [] synonym: "familial transient erythroblastopenia of childhood" RELATED [GARD:0007793] -synonym: "tec" RELATED [MONDO:Lexical, OMIM:227050] +synonym: "tec" RELATED [MONDO:Lexical] synonym: "transient acquired pure red cell aplasia" EXACT [Orphanet:98871] -synonym: "transient erythroblastopenia of childhood" EXACT [MONDO:Lexical, OMIM:227050] +synonym: "transient erythroblastopenia of childhood" EXACT [MONDO:Lexical, NCIT:C131683, OMIM:227050, Orphanet:98871] xref: GARD:7793 {source="MONDO:GARD"} xref: ICD10CM:D60.1 {source="Orphanet:98871/e", source="Orphanet:98871"} xref: ICD9:284.81 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -195849,7 +195879,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital exfoliative erythroderma resistant to treatment" RELATED [GARD:0002192] synonym: "erythroderma lethal congenital" RELATED [GARD:0002192] -synonym: "erythroderma, lethal congenital" RELATED [OMIM:227090] +synonym: "erythroderma, lethal congenital" RELATED [] synonym: "lethal congenital erythroderma" RELATED [GARD:0002192] xref: GARD:2192 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:1954", source="Orphanet:1954/attributed", source="Orphanet:1954/ntbt"} @@ -195865,7 +195895,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2192/erythro [Term] id: MONDO:0009199 name: ethanolaminosis -synonym: "ethanolamine kinase deficiency" RELATED [OMIM:227150] +synonym: "ethanolamine kinase deficiency" RELATED [] synonym: "ethanolaminosis" EXACT [OMIM:227150] xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:120637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -195885,7 +195915,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:3172"} subset: orphanet_rare {source="Orphanet:3172"} subset: rare synonym: "eyebrows duplication of, with stretchable skin and syndactyly" RELATED [GARD:0002216] -synonym: "eyebrows, DUPLICATION of, with stretchable skin and syndactyly" RELATED [OMIM:227210] +synonym: "eyebrows, DUPLICATION of, with stretchable skin and syndactyly" RELATED [] xref: GARD:2216 {source="MONDO:GARD"} xref: MEDGEN:347327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536383 {source="MONDO:equivalentTo"} @@ -195897,7 +195927,7 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic [Term] id: MONDO:0009201 name: facial abnormalities, kyphoscoliosis, and intellectual disability -synonym: "facial abnormalities, kyphoscoliosis, and intellectual disability" EXACT [OMIM:227250] +synonym: "facial abnormalities, kyphoscoliosis, and intellectual disability" EXACT [] synonym: "facial abnormalities, kyphoscoliosis, and mental retardation" EXACT DEPRECATED [OMIM:227250] xref: MEDGEN:347325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565580 {source="MONDO:equivalentTo"} @@ -195916,7 +195946,7 @@ subset: rare synonym: "dysmorphic facial features and multiple structural abnormalities" RELATED [GARD:0005158] synonym: "Dysmorphism multiple structural anomalies" RELATED [GARD:0005158] synonym: "Dysmorphism-multiple structural anomalies syndrome" EXACT [Orphanet:1780] -synonym: "facial dysmorphism with multiple malformations" RELATED [OMIM:227255] +synonym: "facial dysmorphism with multiple malformations" RELATED [] xref: GARD:5158 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1780", source="Orphanet:1780/attributed", source="Orphanet:1780/ntbt"} xref: MEDGEN:346465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -195937,17 +195967,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:1807"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bitemporal forceps Marks syndrome" RELATED [OMIM:227260] +synonym: "bitemporal forceps Marks syndrome" RELATED [] synonym: "bitemporal forceps marks syndrome" RELATED [GARD:0000121] -synonym: "facial ectodermal dysplasia" RELATED [OMIM:227260] +synonym: "facial ectodermal dysplasia" RELATED [] synonym: "FFDD type 2" RELATED [GARD:0000121] synonym: "FFDD type III" EXACT [Orphanet:1807] synonym: "FFDD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:227260, Orphanet:1807] synonym: "focal facial dermal dysplasia 3, Setleis type" EXACT [MONDO:Lexical, OMIM:227260, Orphanet:1807] synonym: "focal facial dermal dysplasia type 2" RELATED [GARD:0000121] -synonym: "focal facial dermal dysplasia type III" EXACT CLINGEN_LABEL [] -synonym: "focal Facial dermal dysplasia, type II" RELATED [OMIM:227260] -synonym: "focal Facial dermal dysplasia, type II, formerly" RELATED [OMIM:227260] +synonym: "focal facial dermal dysplasia type III" EXACT CLINGEN_LABEL [Orphanet:1807] +synonym: "focal Facial dermal dysplasia, type II" RELATED [] +synonym: "focal Facial dermal dysplasia, type II, formerly" RELATED [] synonym: "Setleis syndrome" EXACT [GARD:0000121, OMIM:227260, Orphanet:1807] xref: GARD:121 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:1807", source="Orphanet:1807/attributed", source="Orphanet:1807/ntbt"} @@ -195973,7 +196003,7 @@ subset: orphanet_rare {source="Orphanet:1972"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "faciocardiomelic dysplasia lethal" RELATED [GARD:0002229] -synonym: "faciocardiomelic dysplasia, lethal" RELATED [OMIM:227270] +synonym: "faciocardiomelic dysplasia, lethal" RELATED [] xref: GARD:2229 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1972/attributed", source="Orphanet:1972/ntbt", source="Orphanet:1972"} xref: MEDGEN:384007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -196002,7 +196032,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Eastman Bixler syndrome" RELATED [GARD:0002230] synonym: "Eastman-Bixler syndrome" EXACT [OMIM:227280, Orphanet:1973] -synonym: "faciocardiorenal syndrome" EXACT [OMIM:227280] +synonym: "faciocardiorenal syndrome" EXACT [OMIM:227280, Orphanet:1973] xref: GARD:2230 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1973", source="Orphanet:1973/attributed", source="Orphanet:1973/ntbt"} xref: MEDGEN:208649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -196024,15 +196054,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "combined deficiency of factor V and factor VIII caused by mutation in LMAN1" EXACT [MONDO:design_pattern] -synonym: "combined factor V and VIII deficiency" EXACT [OMIM:227300, OMIM:genemap2] -synonym: "F5F8D1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:227300] +synonym: "combined factor V and VIII deficiency" EXACT [] +synonym: "F5F8D1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "factor 5 and Factor VIII, combined deficiency of, 1" EXACT [MONDORULE:1, OMIM:227300] -synonym: "factor V and factor VIII, combined deficiency of, 1" RELATED [MONDO:Lexical, OMIM:227300] +synonym: "factor V and factor VIII, combined deficiency of, 1" RELATED [MONDO:Lexical] synonym: "factor V and factor VIII, combined deficiency of, type 1" EXACT CLINGEN_LABEL [] -synonym: "familial multiple coagulation Factor deficiency 1" RELATED [OMIM:227300] -synonym: "FMFD 1" RELATED [OMIM:227300] +synonym: "familial multiple coagulation Factor deficiency 1" RELATED [] +synonym: "FMFD 1" RELATED [] synonym: "LMAN1 combined deficiency of factor V and factor VIII" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "multiple coagulation Factor deficiency 1" RELATED [OMIM:227300] +synonym: "multiple coagulation Factor deficiency 1" RELATED [] xref: GARD:18630 {source="MONDO:GARD"} xref: MEDGEN:1637212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:227300 {source="MONDO:equivalentTo"} @@ -196051,8 +196081,8 @@ id: MONDO:0009207 name: factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor subset: gard_rare {source="GARD:18631", source="MONDO:GARD"} subset: rare -synonym: "factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor" RELATED [OMIM:227310] -synonym: "factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor" EXACT [OMIM:227310] +synonym: "factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor" RELATED [] +synonym: "factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor" EXACT [] xref: GARD:18631 {source="MONDO:GARD"} xref: MEDGEN:346462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:227310 {source="MONDO:equivalentTo"} @@ -196085,8 +196115,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Aarskog-like syndrome" EXACT [OMIM:227330, Orphanet:1974] synonym: "facio-digito-genital syndrome, Kuwait type" EXACT [Orphanet:1974] -synonym: "faciodigitogenital syndrome, autosomal recessive" RELATED [OMIM:227330] -synonym: "Kuwait type faciodigitogenital syndrome" RELATED [OMIM:227330] +synonym: "faciodigitogenital syndrome, autosomal recessive" RELATED [] +synonym: "Kuwait type faciodigitogenital syndrome" RELATED [] synonym: "Teebi-Naguib-Alawadi syndrome" EXACT [Orphanet:1974] xref: GARD:5124 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1974", source="Orphanet:1974/attributed", source="Orphanet:1974/ntbt"} @@ -196111,17 +196141,17 @@ subset: ordo_disorder {source="Orphanet:326"} subset: orphanet_rare {source="Orphanet:326"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital factor V deficiency" EXACT CLINGEN_LABEL [] +synonym: "congenital factor V deficiency" EXACT CLINGEN_LABEL [Orphanet:326] synonym: "deficiency, labile" EXACT [DOID:2216] -synonym: "factor 5 deficiency" RELATED [OMIM:227400] -synonym: "factor V deficiency" RELATED [OMIM:227400] +synonym: "factor 5 deficiency" RELATED [] +synonym: "factor V deficiency" RELATED [] synonym: "hereditary Factor V deficiency" EXACT [NCIT:C98938] -synonym: "hereditary factor V deficiency" EXACT [MONDO:patterns/hereditary] +synonym: "hereditary factor V deficiency" EXACT [MONDO:patterns/hereditary, NCIT:C98938] synonym: "hereditary hypoproaccelerinaemia" EXACT [DOID:2216] -synonym: "labile Factor deficiency" RELATED [OMIM:227400] -synonym: "labile factor deficiency" EXACT [DOID:2216] -synonym: "Owren disease" EXACT [Orphanet:326] -synonym: "Owren Parahemophilia" RELATED [OMIM:227400] +synonym: "labile Factor deficiency" RELATED [] +synonym: "labile factor deficiency" EXACT [DOID:2216, OMIM:227400] +synonym: "Owren disease" EXACT [NCIT:C98938, Orphanet:326] +synonym: "Owren Parahemophilia" RELATED [] synonym: "Parahemophilia" EXACT [OMIM:227400, Orphanet:326] synonym: "Proaccelerin deficiency" EXACT [DOID:2216, Orphanet:326] xref: DOID:2216 {source="MONDO:equivalentTo"} @@ -196159,12 +196189,12 @@ subset: ordo_disorder {source="Orphanet:327"} subset: orphanet_rare {source="Orphanet:327"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital factor VII deficiency" EXACT CLINGEN_LABEL [] +synonym: "congenital factor VII deficiency" EXACT CLINGEN_LABEL [Orphanet:327] synonym: "congenital proconvertin deficiency" EXACT [Orphanet:327] -synonym: "deficiency, stable" RELATED EXCLUDE [DOID:2215] -synonym: "F7 deficiency" RELATED [OMIM:227500] -synonym: "factor 7 deficiency" RELATED [GARD:0002238, OMIM:227500] -synonym: "factor VII deficiency" RELATED [OMIM:227500] +synonym: "deficiency, stable" RELATED EXCLUDE [] +synonym: "F7 deficiency" RELATED [] +synonym: "factor 7 deficiency" RELATED [GARD:0002238] +synonym: "factor VII deficiency" RELATED [] synonym: "hypoproconvertinemia" EXACT [OMIM:227500, Orphanet:327] xref: DOID:2215 {source="MONDO:equivalentTo"} xref: GARD:2238 {source="MONDO:GARD"} @@ -196196,17 +196226,17 @@ subset: ordo_disorder {source="Orphanet:328"} subset: orphanet_rare {source="Orphanet:328"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital factor X deficiency" EXACT CLINGEN_LABEL [] -synonym: "congenital Stuart factor deficiency" EXACT [Orphanet:328] +synonym: "congenital factor X deficiency" EXACT CLINGEN_LABEL [icd11.foundation:1886781445, Orphanet:328] +synonym: "congenital Stuart factor deficiency" EXACT [icd11.foundation:1886781445, Orphanet:328] synonym: "disease, Stuart-Prower" EXACT [DOID:2222] -synonym: "F10 deficiency" RELATED [OMIM:227600] -synonym: "factor 10 deficiency" RELATED [OMIM:227600] -synonym: "factor X deficiency" RELATED [OMIM:227600] +synonym: "F10 deficiency" RELATED [] +synonym: "factor 10 deficiency" RELATED [] +synonym: "factor X deficiency" RELATED [] synonym: "factor X deficiency, congenital" RELATED [GARD:0006404] -synonym: "hereditary Factor X deficiency" EXACT [NCIT:C98940] +synonym: "hereditary Factor X deficiency" EXACT [icd11.foundation:1886781445, NCIT:C98940] synonym: "Stuart factor deficiency, congenital" RELATED [GARD:0006404] -synonym: "Stuart-Prower Factor deficiency" RELATED [OMIM:227600] -synonym: "Stuart-Prower factor deficiency" EXACT [Orphanet:328] +synonym: "Stuart-Prower Factor deficiency" RELATED [] +synonym: "Stuart-Prower factor deficiency" EXACT [icd11.foundation:1886781445, NCIT:C98940, OMIM:227600, Orphanet:328] xref: DOID:2222 {source="MONDO:equivalentTo"} xref: GARD:6404 {source="MONDO:GARD"} xref: ICD10CM:D68.2 {source="Orphanet:328/attributed", source="Orphanet:328/ntbt", source="Orphanet:328"} @@ -196238,16 +196268,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FA3" EXACT ABBREVIATION [DOID:0111087] -synonym: "FACC" EXACT ABBREVIATION [DOID:0111087] -synonym: "facc" RELATED [OMIM:227645] +synonym: "FACC" EXACT ABBREVIATION [DOID:0111087, OMIM:227645] +synonym: "facc" RELATED [] synonym: "FANCC" EXACT ABBREVIATION [DOID:0111087, MONDO:Lexical, OMIM:227645] synonym: "Fanconi anaemia complementation group type C" EXACT OMO:0003005 [] -synonym: "Fanconi anemia complementation group C" EXACT CLINGEN_LABEL [] -synonym: "Fanconi anemia complementation group type C" EXACT [DOID:0111087, MONDORULE:1] -synonym: "Fanconi anemia, complementation group C" RELATED [MONDO:Lexical, OMIM:227645] -synonym: "Fanconi Anemia, complementation group type C" EXACT [MONDORULE:1, OMIM:227645] +synonym: "Fanconi anemia complementation group C" EXACT CLINGEN_LABEL [DOID:0111087] +synonym: "Fanconi anemia complementation group type C" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group C" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type C" EXACT [MONDORULE:1] synonym: "Fanconi pancytopenia type 3" EXACT [DOID:0111087] -synonym: "Fanconi pancytopenia, type 3" RELATED [OMIM:227645] +synonym: "Fanconi pancytopenia, type 3" RELATED [] xref: DOID:0111087 {source="MONDO:equivalentTo"} xref: GARD:15168 {source="MONDO:GARD"} xref: MEDGEN:483324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -196268,14 +196298,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FA4" EXACT ABBREVIATION [DOID:0111083] -synonym: "FAD2" EXACT ABBREVIATION [DOID:0111083] -synonym: "Fad2" RELATED [OMIM:227646] +synonym: "FAD2" EXACT ABBREVIATION [DOID:0111083, OMIM:227646] +synonym: "Fad2" RELATED [] synonym: "FANCD2" EXACT ABBREVIATION [DOID:0111083, MONDO:Lexical, OMIM:227646] -synonym: "Fanconi anemia complementation group D2" EXACT CLINGEN_LABEL [] -synonym: "Fanconi Anemia, complementation group D" RELATED [OMIM:227646] -synonym: "Fanconi anemia, complementation group D2" RELATED [MONDO:Lexical, OMIM:227646] +synonym: "Fanconi anemia complementation group D2" EXACT CLINGEN_LABEL [DOID:0111083] +synonym: "Fanconi Anemia, complementation group D" RELATED [] +synonym: "Fanconi anemia, complementation group D2" RELATED [MONDO:Lexical] synonym: "Fanconi pancytopenia type 4" EXACT [DOID:0111083] -synonym: "Fanconi pancytopenia, type 4" RELATED [OMIM:227646] +synonym: "Fanconi pancytopenia, type 4" RELATED [] xref: DOID:0111083 {source="MONDO:equivalentTo"} xref: GARD:15169 {source="MONDO:GARD"} xref: MEDGEN:463627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -196295,21 +196325,21 @@ subset: gard_rare {source="GARD:15170", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Estren-Dameshek variant of Fanconi Anaemia" RELATED OMO:0003005 [] -synonym: "Estren-Dameshek variant of Fanconi Anemia" RELATED [OMIM:227650] -synonym: "Estren-Dameshek variant of Fanconi pancytopenia" RELATED [OMIM:227650] +synonym: "Estren-Dameshek variant of Fanconi Anemia" RELATED [] +synonym: "Estren-Dameshek variant of Fanconi pancytopenia" RELATED [] synonym: "FANCA" EXACT ABBREVIATION [DOID:0111095, MONDO:Lexical, OMIM:227650] synonym: "FANCA Fanconi anaemia" EXACT OMO:0003005 [] synonym: "FANCA Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Fanconi Anaemia" RELATED OMO:0003005 [] synonym: "Fanconi anaemia caused by mutation in FANCA" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type A" EXACT OMO:0003005 [] -synonym: "Fanconi Anemia" RELATED [OMIM:227650] +synonym: "Fanconi Anemia" RELATED [] synonym: "Fanconi anemia caused by mutation in FANCA" EXACT [MONDO:design_pattern] -synonym: "Fanconi anemia complementation group A" EXACT CLINGEN_LABEL [] -synonym: "Fanconi anemia complementation group type A" EXACT [DOID:0111095, MONDORULE:1] -synonym: "Fanconi anemia, complementation group A" RELATED [MONDO:Lexical, OMIM:227650] -synonym: "Fanconi Anemia, complementation group type a" EXACT [MONDORULE:1, OMIM:227650] -synonym: "Fanconi Anemia, Estren-Dameshek variant" RELATED [OMIM:227650] +synonym: "Fanconi anemia complementation group A" EXACT CLINGEN_LABEL [DOID:0111095] +synonym: "Fanconi anemia complementation group type A" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group A" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type a" EXACT [MONDORULE:1] +synonym: "Fanconi Anemia, Estren-Dameshek variant" RELATED [] xref: DOID:0111095 {source="MONDO:equivalentTo"} xref: GARD:15170 {source="MONDO:GARD"} xref: GTR:AN1051558 @@ -196336,29 +196366,29 @@ subset: ordo_disorder {source="Orphanet:2088"} subset: orphanet_rare {source="Orphanet:2088"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bickel-Fanconi glycogenosis" EXACT [Orphanet:2088] +synonym: "Bickel-Fanconi glycogenosis" EXACT [] synonym: "Fanconi Bickel syndrome" EXACT [GARD:0002268] synonym: "Fanconi syndrome with intestinal malabsorption and galactose intolerance" EXACT [GARD:0002268, OMIM:227810] -synonym: "Fanconi-Bickel disease" EXACT [Orphanet:2088] -synonym: "Fanconi-Bickel syndrome" EXACT [MONDO:Lexical, OMIM:227810] -synonym: "FBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:227810] +synonym: "Fanconi-Bickel disease" EXACT [] +synonym: "Fanconi-Bickel syndrome" EXACT [DOID:0070562, icd11.foundation:426701963, MONDO:Lexical, OMIM:227810, Orphanet:2088] +synonym: "FBS" EXACT ABBREVIATION [DOID:0070562, MONDO:Lexical, OMIM:227810] synonym: "GLUT2 deficiency" RELATED [GARD:0002268] -synonym: "glycogen storage disease 11" RELATED AMBIGUOUS [OMIM:227810] -synonym: "glycogen storage disease due to GLUT2 deficiency" EXACT [GARD:0002268] -synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [Orphanet:2088] -synonym: "glycogen storage disease type XI" RELATED AMBIGUOUS [Orphanet:2088] +synonym: "glycogen storage disease 11" RELATED AMBIGUOUS [] +synonym: "glycogen storage disease due to GLUT2 deficiency" EXACT [GARD:0002268, icd11.foundation:426701963, Orphanet:2088] +synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [] +synonym: "glycogen storage disease type XI" RELATED AMBIGUOUS [] synonym: "glycogen storage disease XI" RELATED [GARD:0002268] synonym: "glycogenosis due to GLUT2 deficiency" EXACT [Orphanet:2088] synonym: "glycogenosis Fanconi EXACT" RELATED [GARD:0002268] -synonym: "glycogenosis, Fanconi type" RELATED [OMIM:227810] +synonym: "glycogenosis, Fanconi type" RELATED [] synonym: "GSD due to GLUT2 deficiency" EXACT [Orphanet:2088] -synonym: "GSD type 11" RELATED AMBIGUOUS [Orphanet:2088] -synonym: "GSD type XI" RELATED AMBIGUOUS [Orphanet:2088] -synonym: "hepatic glycogenosis with amino aciduria and glucosuria" RELATED [GARD:0002268, OMIM:227810] -synonym: "hepatic glycogenosis with Fanconi nephropathy" RELATED [OMIM:227810] -synonym: "hepatorenal glycogenosis with renal Fanconi syndrome" RELATED [GARD:0002268, OMIM:227810] +synonym: "GSD type 11" RELATED AMBIGUOUS [] +synonym: "GSD type XI" RELATED AMBIGUOUS [] +synonym: "hepatic glycogenosis with amino aciduria and glucosuria" RELATED [GARD:0002268] +synonym: "hepatic glycogenosis with Fanconi nephropathy" RELATED [] +synonym: "hepatorenal glycogenosis with renal Fanconi syndrome" RELATED [GARD:0002268] synonym: "hepatorenal glycogenosis with renal fanconi syndrome" RELATED [GARD:0002268] -synonym: "pseudo-phlorizin diabetes" RELATED [GARD:0002268, OMIM:227810] +synonym: "pseudo-phlorizin diabetes" RELATED [GARD:0002268] xref: DOID:0070562 {source="MONDO:equivalentTo"} xref: GARD:2268 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:2088", source="Orphanet:2088/attributed", source="Orphanet:2088/ntbt"} @@ -196383,7 +196413,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2268/fanconi id: MONDO:0009217 name: Fanconi-like syndrome def: "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies." [DOID:0090066] -synonym: "Fanconi-like syndrome" EXACT [OMIM:227850] +synonym: "Fanconi-like syndrome" EXACT [DOID:0090066, OMIM:227850] xref: DOID:0090066 {source="MONDO:equivalentTo"} xref: MEDGEN:56237 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536855 {source="MONDO:equivalentTo"} @@ -196403,15 +196433,15 @@ subset: ordo_disorder {source="Orphanet:333"} subset: orphanet_rare {source="Orphanet:333"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AC deficiency" RELATED [OMIM:228000] +synonym: "AC deficiency" RELATED [] synonym: "acid ceramidase deficiency" EXACT [DOID:0050464, OMIM:228000, Orphanet:333] -synonym: "ceramidase deficiency" RELATED [OMIM:228000] -synonym: "Farber disease" EXACT [DOID:0050464, OMIM:228000] -synonym: "Farber lipogranulomatosis" EXACT [MONDO:Lexical, OMIM:228000, Orphanet:333] +synonym: "ceramidase deficiency" RELATED [] +synonym: "Farber disease" EXACT [DOID:0050464, OMIM:228000, Orphanet:333] +synonym: "Farber lipogranulomatosis" EXACT [DOID:0050464, MONDO:Lexical, NCIT:C84710, OMIM:228000, Orphanet:333] synonym: "Farber's disease" RELATED [GARD:0006426] -synonym: "FRBRL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228000] -synonym: "N-LAURYLSPHINGOSINE deacylase deficiency" EXACT [DOID:0050464] -synonym: "N-Laurylsphingosine deacylase deficiency" RELATED [OMIM:228000] +synonym: "FRBRL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "N-LAURYLSPHINGOSINE deacylase deficiency" EXACT [DOID:0050464, OMIM:228000] +synonym: "N-Laurylsphingosine deacylase deficiency" RELATED [] xref: DOID:0050464 {source="MONDO:equivalentTo"} xref: GARD:6426 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:333/ntbt", source="Orphanet:333/inclusion", source="Orphanet:333"} @@ -196453,12 +196483,12 @@ is_a: MONDO:0008492 {source="Orphanet:2833/btnt"} ! stiff skin syndrome id: MONDO:0009220 name: visceral steatosis, congenital synonym: "fatal neonatal hepatic steatosis" RELATED [GARD:0008514] -synonym: "fatty liver disease, congenital" RELATED [OMIM:228100] -synonym: "fatty metamorphosis of viscera" RELATED [OMIM:228100] -synonym: "steatosis of liver" RELATED [OMIM:228100] +synonym: "fatty liver disease, congenital" RELATED [] +synonym: "fatty metamorphosis of viscera" RELATED [] +synonym: "steatosis of liver" RELATED [] synonym: "visceral steatosis" RELATED [GARD:0008514] synonym: "visceral steatosis, congenital" EXACT [OMIM:228100] -synonym: "White liver disease" RELATED [OMIM:228100] +synonym: "White liver disease" RELATED [] xref: ICD9:571.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:90962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536351 {source="MONDO:equivalentTo"} @@ -196484,8 +196514,8 @@ synonym: "femur fibula ulna syndrome" RELATED [GARD:0002286] synonym: "femur-fibula-ulna dysostosis" EXACT [Orphanet:2019] synonym: "femur-fibula-ulna syndrome" EXACT [OMIM:228200, Orphanet:2019] synonym: "FFU complex" EXACT [Orphanet:2019] -synonym: "Ffu syndrome" RELATED [OMIM:228200] -synonym: "PFFD" EXACT ABBREVIATION [Orphanet:2019] +synonym: "Ffu syndrome" RELATED [] +synonym: "PFFD" EXACT ABBREVIATION [] xref: GARD:2286 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:2019", source="Orphanet:2019/attributed", source="Orphanet:2019/ntbt"} xref: icd11.foundation:353892894 {source="MONDO:equivalentTo"} @@ -196515,8 +196545,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bifid femur-monodactylous ectrodactyly syndrome" EXACT [Orphanet:1986] synonym: "femur bifid with monodactylous ectrodactyly" RELATED [GARD:0002285] -synonym: "femur, unilateral bifid, with monodactylous ectrodactyly" RELATED [OMIM:228250] -synonym: "Gollop-Wolfgang complex" EXACT [OMIM:228250] +synonym: "femur, unilateral bifid, with monodactylous ectrodactyly" RELATED [] +synonym: "Gollop-Wolfgang complex" EXACT [OMIM:228250, Orphanet:1986] synonym: "GWC" RELATED ABBREVIATION [GARD:0002285] xref: GARD:2285 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:1986", source="Orphanet:1986/attributed", source="Orphanet:1986/ntbt"} @@ -196547,10 +196577,10 @@ synonym: "46,XY DSD due to LHB deficiency" EXACT [DOID:0090091, Orphanet:325448] synonym: "46,XY DSD due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448] synonym: "eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)" RELATED [GARD:0010127] synonym: "fertile eunuch syndrome" EXACT [DOID:0090091, OMIM:228300] -synonym: "HH23" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228300] -synonym: "hypogonadotropic hypogonadism 23 without anosmia" RELATED [MONDO:Lexical, OMIM:228300] +synonym: "HH23" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 23 without anosmia" RELATED [MONDO:Lexical] synonym: "hypogonadotropic hypogonadism caused by mutation in LHB" EXACT [MONDO:design_pattern] -synonym: "Leydig cell hypoplasia due to LHB deficiency" EXACT [DOID:0090091] +synonym: "Leydig cell hypoplasia due to LHB deficiency" EXACT [DOID:0090091, Orphanet:325448] synonym: "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448] synonym: "LHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Pasqualini syndrome" EXACT [DOID:0090091, OMIM:228300] @@ -196580,9 +196610,9 @@ subset: ordo_disorder {source="Orphanet:1910"} subset: ordo_malformation_syndrome {source="Orphanet:1910"} subset: orphanet_rare {source="Orphanet:1910"} subset: rare -synonym: "endemic cretinism" RELATED DEPRECATED [OMIM:228355] -synonym: "fetal iodine deficiency disorder" RELATED [MONDO:Lexical, OMIM:228355] -synonym: "FIDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228355] +synonym: "endemic cretinism" RELATED DEPRECATED [] +synonym: "fetal iodine deficiency disorder" RELATED [MONDO:Lexical] +synonym: "FIDD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "foetal iodine deficiency disorder" RELATED OMO:0003005 [] xref: GARD:2304 {source="MONDO:GARD"} xref: ICD10CM:P72.2 {source="Orphanet:1910", source="Orphanet:1910/ntbt"} @@ -196613,10 +196643,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "COL11A1 fibrochondrogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "FBCG1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228520] -synonym: "fibrochondrogenesis 1" EXACT [MONDO:Lexical, OMIM:228520] +synonym: "FBCG1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "fibrochondrogenesis 1" EXACT [DOID:0080672, MONDO:Lexical, OMIM:228520] synonym: "fibrochondrogenesis caused by mutation in COL11A1" EXACT [MONDO:design_pattern] -synonym: "fibrochondrogenesis type 1" EXACT [MONDORULE:1, OMIM:228520] +synonym: "fibrochondrogenesis type 1" EXACT [MONDORULE:1] xref: DOID:0080672 {source="MONDO:equivalentTo"} xref: MEDGEN:479768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:228520 {source="MONDO:equivalentTo"} @@ -196636,12 +196666,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "fibromatosis, congenital generalised" RELATED OMO:0003005 [] -synonym: "fibromatosis, congenital generalized" RELATED [OMIM:228550] -synonym: "IMF1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228550] +synonym: "fibromatosis, congenital generalized" RELATED [] +synonym: "IMF1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "myofibromatosis caused by mutation in PDGFRB" EXACT [MONDO:design_pattern] synonym: "myofibromatosis, infantile, 1" EXACT [MONDO:Lexical, OMIM:228550] -synonym: "myofibromatosis, infantile, type 1" EXACT [MONDORULE:1, OMIM:228550] -synonym: "myofibromatosis, juvenile" RELATED [OMIM:228550] +synonym: "myofibromatosis, infantile, type 1" EXACT [MONDORULE:1] +synonym: "myofibromatosis, juvenile" RELATED [] synonym: "PDGFRB myofibromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:1632352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -196665,7 +196695,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2025"} subset: orphanet_rare {source="Orphanet:2025"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fibromatosis, gingival, with distinctive facies" RELATED [OMIM:228560] +synonym: "fibromatosis, gingival, with distinctive facies" RELATED [] synonym: "gingival fibromatosis with craniofacial dysmorphism" RELATED [GARD:0010528] synonym: "gingival fibromatosis with distinctive facies" RELATED [GARD:0010528] xref: GARD:10528 {source="MONDO:GARD"} @@ -196689,9 +196719,9 @@ subset: ordo_disorder {source="Orphanet:498474"} subset: orphanet_rare {source="Orphanet:498474"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228600] -synonym: "hyaline fibromatosis syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:228600] -synonym: "hyalinosis, systemic" RELATED [OMIM:228600] +synonym: "HFS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyaline fibromatosis syndrome" EXACT CLINGEN_LABEL [DOID:0111669, MONDO:Lexical, OMIM:228600, Orphanet:498474] +synonym: "hyalinosis, systemic" RELATED [] synonym: "infantile systemic hyalinosis (former subtype)" RELATED [GARD:0006807] synonym: "inherited systemic hyalinosis" RELATED [GARD:0006807] synonym: "juvenile hyaline fibromatosis (former subtype)" RELATED [GARD:0006807] @@ -196713,9 +196743,9 @@ subset: gard_rare {source="GARD:5697", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "fibrosclerosis, multifocal" EXACT [OMIM:228800] -synonym: "mediastinal fibrosis, familial" RELATED [OMIM:228800] +synonym: "mediastinal fibrosis, familial" RELATED [] synonym: "multifocal fibrosclerosis" RELATED [GARD:0005697] -synonym: "retroperitoneal fibrosis, familial" RELATED [OMIM:228800] +synonym: "retroperitoneal fibrosis, familial" RELATED [] xref: GARD:5697 {source="MONDO:GARD"} xref: ICD10CM:M35.5 {source="MONDO:equivalentTo"} xref: ICD9:710.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -196738,10 +196768,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:2639"} subset: orphanet_rare {source="Orphanet:2639"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acromesomelic dysplasia 2B" EXACT [OMIM:228900, OMIM:genemap2] +synonym: "acromesomelic dysplasia 2B" EXACT [OMIM:228900] synonym: "Du Pan syndrome" EXACT [DOID:0050790, OMIM:228900, Orphanet:2639] -synonym: "fibular aplasia-complex brachydactyly syndrome" RELATED [Orphanet:2639] -synonym: "fibular hypoplasia and complex brachydactyly" EXACT [OMIM:228900] +synonym: "fibular aplasia-complex brachydactyly syndrome" RELATED [] +synonym: "fibular hypoplasia and complex brachydactyly" EXACT [DOID:0050790, OMIM:228900] xref: DOID:0050790 {source="MONDO:equivalentTo"} xref: GARD:9879 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="Orphanet:2639/attributed", source="Orphanet:2639/ntbt", source="Orphanet:2639"} @@ -196773,9 +196803,9 @@ subset: orphanet_rare {source="Orphanet:2854"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies" RELATED [GARD:0002410] -synonym: "fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly" RELATED [OMIM:228930] +synonym: "fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly" RELATED [] synonym: "fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome" EXACT [Orphanet:2854] -synonym: "Fuhrmann syndrome" EXACT [OMIM:228930] +synonym: "Fuhrmann syndrome" EXACT [DOID:0090067, OMIM:228930, Orphanet:2854] synonym: "Fuhrmann-Rieger-de Sousa syndrome" EXACT [Orphanet:2854] xref: DOID:0090067 {source="MONDO:equivalentTo"} xref: GARD:2410 {source="MONDO:GARD"} @@ -196805,7 +196835,7 @@ subset: orphanet_rare {source="Orphanet:2256"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Fibulo ulnar hypoplasia renal anomalies" RELATED [GARD:0000320] -synonym: "FIBULOULNAR aplasia or hypoplasia with renal abnormalities" RELATED [OMIM:228940] +synonym: "FIBULOULNAR aplasia or hypoplasia with renal abnormalities" RELATED [] synonym: "Saito Kuba Tsuruta syndrome" RELATED [GARD:0000320] synonym: "Saito-Kuba-Tsuruta syndrome" EXACT [Orphanet:2256] xref: GARD:320 {source="MONDO:GARD"} @@ -196829,21 +196859,21 @@ subset: ordo_disorder {source="Orphanet:483"} subset: orphanet_rare {source="Orphanet:483"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fitzgerald trait" RELATED [MESH:C537060, OMIM:228960] +synonym: "Fitzgerald trait" RELATED [MESH:C537060] synonym: "Fitzgerald trait kininogen deficiency, total, included" RELATED [MESH:C537060] synonym: "Flaujeac factor deficiency" RELATED [GARD:0002684] -synonym: "Flaujeac trait" RELATED [OMIM:228960] +synonym: "Flaujeac trait" RELATED [] synonym: "Flaujeac trait, included" RELATED [MESH:C537060] -synonym: "high molecular weight kininogen deficiency" EXACT [MESH:C537060, OMIM:228960, OMIM:genemap2] +synonym: "high molecular weight kininogen deficiency" EXACT [DOID:0111676, MESH:C537060, NCIT:C98946, OMIM:228960] synonym: "high-molecular-weight kininogen deficiency, congenital" RELATED [GARD:0002684] synonym: "HMWK" RELATED ABBREVIATION [GARD:0002684] -synonym: "HMWK deficiency" RELATED [MESH:C537060, OMIM:228960] -synonym: "kininogen deficiency" EXACT [OMIM:228960, OMIM:genemap2] -synonym: "kininogen deficiency, high molecular weight" RELATED [MESH:C537060, OMIM:228960] -synonym: "kininogen deficiency, high molecular weight and Low molecular weight" RELATED [OMIM:228960] +synonym: "HMWK deficiency" RELATED [MESH:C537060] +synonym: "kininogen deficiency" EXACT [] +synonym: "kininogen deficiency, high molecular weight" RELATED [MESH:C537060] +synonym: "kininogen deficiency, high molecular weight and Low molecular weight" RELATED [] synonym: "kininogen deficiency, high molecular weight and LOW molecular weight, included" RELATED [MESH:C537060] -synonym: "kininogen deficiency, total" RELATED [MESH:C537060, OMIM:228960] -synonym: "Williams trait" RELATED [OMIM:228960] +synonym: "kininogen deficiency, total" RELATED [MESH:C537060] +synonym: "Williams trait" RELATED [] synonym: "Williams trait, included" RELATED [MESH:C537060] xref: DOID:0111676 {source="MONDO:equivalentTo"} xref: GARD:2684 {source="MONDO:GARD"} @@ -196876,9 +196906,9 @@ subset: ordo_disorder {source="Orphanet:363989"} subset: orphanet_rare {source="Orphanet:363989"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FLECK retina, familial benign" RELATED [MONDO:Lexical, OMIM:228980] -synonym: "fleck retina, familial benign" EXACT [OMIM:228980, OMIM:genemap2] -synonym: "FRFB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:228980] +synonym: "FLECK retina, familial benign" RELATED [MONDO:Lexical] +synonym: "fleck retina, familial benign" EXACT [OMIM:228980] +synonym: "FRFB" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111677 {source="MONDO:equivalentTo"} xref: GARD:18651 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:363989/attributed", source="Orphanet:363989/ntbt", source="MONDO:directSiblingOf", source="Orphanet:363989"} @@ -196901,7 +196931,7 @@ subset: ordo_disorder {source="Orphanet:99179"} subset: ordo_malformation_syndrome {source="Orphanet:99179"} subset: orphanet_rare {source="Orphanet:99179"} subset: rare -synonym: "FLECK retina of KANDORI" RELATED [OMIM:228990] +synonym: "FLECK retina of KANDORI" RELATED [] xref: GARD:16900 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99179/attributed", source="Orphanet:99179/ntbt", source="Orphanet:99179"} xref: icd11.foundation:697904956 {source="MONDO:equivalentTo"} @@ -196918,8 +196948,8 @@ id: MONDO:0009237 name: focal epithelial hyperplasia def: "Hyperplasia characterized by the presence of a focal proliferation of epithelial cells." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "FEH, oral" RELATED [OMIM:229045] -synonym: "focal epithelial hyperplasia, oral" RELATED [OMIM:229045] +synonym: "FEH, oral" RELATED [] +synonym: "focal epithelial hyperplasia, oral" RELATED [] synonym: "heck disease" EXACT [DOID:5362, OMIM:229045] synonym: "heck's disease" EXACT [DOID:5362] synonym: "multifocal epithelial hyperplasia" EXACT [DOID:5362] @@ -196950,8 +196980,8 @@ subset: orphanet_rare {source="Orphanet:90045"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital defect of folate absorption" RELATED [GARD:0012983] -synonym: "congenital folate malabsorption" EXACT [Orphanet:90045] -synonym: "folate malabsorption, hereditary" RELATED [OMIM:229050] +synonym: "congenital folate malabsorption" EXACT [DOID:0111678, icd11.foundation:773545237, Orphanet:90045] +synonym: "folate malabsorption, hereditary" RELATED [] synonym: "folic acid transport defect" RELATED [GARD:0012983] xref: DOID:0111678 {source="MONDO:equivalentTo"} xref: GARD:12983 {source="MONDO:GARD"} @@ -196984,12 +197014,12 @@ subset: ordo_disorder {source="Orphanet:52901"} subset: orphanet_rare {source="Orphanet:52901"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "follicle-stimulating hormone deficiency, isolated" RELATED [OMIM:229070] +synonym: "follicle-stimulating hormone deficiency, isolated" RELATED [] synonym: "FSHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HH24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229070] -synonym: "hypogonadotropic hypogonadism 24 without anosmia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:229070] +synonym: "HH24" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 24 without anosmia" EXACT CLINGEN_LABEL [DOID:0090088, MONDO:Lexical] synonym: "hypogonadotropic hypogonadism caused by mutation in FSHB" EXACT [MONDO:design_pattern] -synonym: "isolated follicle stimulating hormone deficiency" RELATED [Orphanet:52901] +synonym: "isolated follicle stimulating hormone deficiency" RELATED [] synonym: "isolated follicle-stimulating hormone (FSH) deficiency" RELATED [GARD:0010128] synonym: "isolated follicle-stimulating hormone deficiency" EXACT [DOID:0090088] synonym: "isolated FSH deficiency" EXACT [Orphanet:52901] @@ -197018,15 +197048,15 @@ subset: orphanet_rare {source="Orphanet:51208"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Arakawa syndrome 1" RELATED [GARD:0009279] -synonym: "Figlu-Uria" RELATED [OMIM:229100] +synonym: "Figlu-Uria" RELATED [] synonym: "formiminoglutamic acidemia" RELATED [GARD:0009279] -synonym: "formiminoglutamic aciduria" EXACT CLINGEN_LABEL [OMIM:229100] +synonym: "formiminoglutamic aciduria" EXACT CLINGEN_LABEL [DOID:0111679, icd11.foundation:664824338, OMIM:229100, Orphanet:51208] synonym: "Formiminoglutamicaciduria (FIGLU-Uria)" RELATED [GARD:0009279] -synonym: "formiminotransferase cyclodeaminase deficiency" EXACT [Orphanet:51208] -synonym: "formiminotransferase deficiency" RELATED [OMIM:229100] +synonym: "formiminotransferase cyclodeaminase deficiency" EXACT [DOID:0111679, icd11.foundation:664824338, Orphanet:51208] +synonym: "formiminotransferase deficiency" RELATED [] synonym: "formiminotransferase deficiency syndrome" RELATED [GARD:0009279] -synonym: "FTCD deficiency" EXACT [Orphanet:51208] -synonym: "glutamate formiminotransferase deficiency" EXACT [OMIM:229100, Orphanet:51208] +synonym: "FTCD deficiency" EXACT [DOID:0111679, Orphanet:51208] +synonym: "glutamate formiminotransferase deficiency" EXACT [DOID:0111679, icd11.foundation:664824338, OMIM:229100, Orphanet:51208] xref: DOID:0111679 {source="MONDO:equivalentTo"} xref: GARD:9279 {source="MONDO:GARD"} xref: ICD10CM:E70.8 {source="Orphanet:51208/attributed", source="Orphanet:51208/ntbt", source="Orphanet:51208"} @@ -197057,10 +197087,10 @@ subset: rare synonym: "deafness, skeletal dysplasia, lip granuloma" RELATED [GARD:0000064] synonym: "deafness-skeletal dysplasia-coarse face with full lips syndrome" EXACT [Orphanet:3219] synonym: "deafness-skeletal dysplasia-lip granuloma syndrome" EXACT [Orphanet:3219] -synonym: "fountain syndrome" EXACT [OMIM:229120] +synonym: "fountain syndrome" EXACT [OMIM:229120, Orphanet:3219] synonym: "intellectual disability, deafness, skeletal abnormalities, coarse face with full lips" RELATED [GARD:0000064] -synonym: "intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED [OMIM:229120] -synonym: "mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED DEPRECATED [OMIM:229120] +synonym: "intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED [] +synonym: "mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips" RELATED DEPRECATED [] xref: GARD:64 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3219", source="Orphanet:3219/attributed", source="Orphanet:3219/ntbt"} xref: MEDGEN:208650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -197085,15 +197115,15 @@ subset: orphanet_rare {source="Orphanet:90354"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "BCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229200] -synonym: "brittle cornea syndrome" EXACT [] -synonym: "brittle cornea syndrome 1" RELATED [MONDO:Lexical, OMIM:229200] -synonym: "brittle cornea syndrome 2" NARROW [DOID:14775] -synonym: "brittle cornea syndrome type 1" EXACT [MONDORULE:1, OMIM:229200] +synonym: "BCS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "brittle cornea syndrome" EXACT [OMIMPS:229200, Orphanet:90354] +synonym: "brittle cornea syndrome 1" RELATED [MONDO:Lexical] +synonym: "brittle cornea syndrome 2" NARROW [] +synonym: "brittle cornea syndrome type 1" EXACT [MONDORULE:1] synonym: "EDS VIB (formerly)" RELATED [GARD:0001019] synonym: "Ehlers-Danlos syndrome type 6b" RELATED [] synonym: "Ehlers-Danlos syndrome type 6B (formerly)" RELATED [GARD:0001019] -synonym: "kyphoscoliosis type" EXACT [DOID:14775] +synonym: "kyphoscoliosis type" EXACT [] synonym: "type VIB Ehlers-Danlos syndrome" EXACT [DOID:14775] xref: DOID:14775 {source="MONDO:equivalentTo"} xref: GARD:1019 {source="MONDO:GARD"} @@ -197116,7 +197146,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1019/brittle id: MONDO:0009243 name: Fraser-like syndrome synonym: "Fraser-like syndrome" EXACT [OMIM:229230] -synonym: "Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies" RELATED [OMIM:229230] +synonym: "Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies" RELATED [] xref: MEDGEN:346426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565562 {source="MONDO:equivalentTo"} xref: OMIM:229230 {source="MONDO:equivalentTo"} @@ -197164,11 +197194,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1791"} subset: orphanet_rare {source="Orphanet:1791"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ffnd" RELATED [OMIM:229400] +synonym: "Ffnd" RELATED [] synonym: "fronto-facio-nasal dyplasia" RELATED [GARD:0002390] synonym: "fronto-facio-nasal dysostosis" RELATED [GARD:0002390] -synonym: "Frontofacionasal dysostosis" RELATED [OMIM:229400] -synonym: "frontofacionasal dysplasia" EXACT [OMIM:229400] +synonym: "Frontofacionasal dysostosis" RELATED [] +synonym: "frontofacionasal dysplasia" EXACT [OMIM:229400, Orphanet:1791] synonym: "Gollop syndrome" EXACT [Orphanet:1791] xref: GARD:2390 {source="MONDO:GARD"} xref: ICD10CM:Q75.8 {source="Orphanet:1791", source="Orphanet:1791/attributed", source="Orphanet:1791/ntbt"} @@ -197205,18 +197235,18 @@ subset: ordo_disorder {source="Orphanet:469"} subset: orphanet_rare {source="Orphanet:469"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Aldob deficiency" RELATED [OMIM:229600] -synonym: "aldolase B deficiency" RELATED [OMIM:229600] -synonym: "Fructosaemia" EXACT [DOID:9869] -synonym: "fructose intolerance" EXACT [NCIT:C84720] -synonym: "Fructose Intolerance, Hereditary" EXACT [NORD:1166] +synonym: "Aldob deficiency" RELATED [] +synonym: "aldolase B deficiency" RELATED [] +synonym: "Fructosaemia" EXACT [DOID:9869, icd11.foundation:1925240365] +synonym: "fructose intolerance" EXACT [icd11.foundation:1925240365, NCIT:C84720] +synonym: "Fructose Intolerance, Hereditary" EXACT [NORD:1166, OMIM:229600] synonym: "fructose intolerance, hereditary" EXACT [OMIM:229600] -synonym: "fructose-1,6-bisphosphate aldolase B deficiency" EXACT [DOID:9869, OMIM:229600] -synonym: "fructose-1-phosphate aldolase deficiency" RELATED [OMIM:229600] -synonym: "fructosemia" EXACT [DOID:9869, OMIM:229600] -synonym: "hereditary fructose intolerance" EXACT CLINGEN_LABEL [] -synonym: "hereditary fructose intolerance syndrome" EXACT [MONDO:0004906] -synonym: "hereditary fructose-1-phosphate aldolase deficiency" EXACT [Orphanet:469] +synonym: "fructose-1,6-bisphosphate aldolase B deficiency" EXACT [DOID:9869, icd11.foundation:1925240365, NCIT:C84720, OMIM:229600] +synonym: "fructose-1-phosphate aldolase deficiency" RELATED [] +synonym: "fructosemia" EXACT [DOID:9869, ICD10CM:E74.12, OMIM:229600] +synonym: "hereditary fructose intolerance" EXACT CLINGEN_LABEL [ICD10CM:E74.12, icd11.foundation:1925240365, NCIT:C84720, Orphanet:469] +synonym: "hereditary fructose intolerance syndrome" EXACT [DOID:9869, MONDO:0004906] +synonym: "hereditary fructose-1-phosphate aldolase deficiency" EXACT [icd11.foundation:1925240365, Orphanet:469] synonym: "hereditary fructosemia" EXACT [Orphanet:469] xref: DOID:9869 {source="MONDO:equivalentTo"} xref: GARD:6622 {source="MONDO:GARD"} @@ -197252,7 +197282,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009250 name: obsolete fructose utilization comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "fructose utilization" EXACT [OMIM:229650] +synonym: "fructose utilization" EXACT [] xref: OMIM:229650 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -197268,11 +197298,11 @@ subset: orphanet_rare {source="Orphanet:348"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "baker-Winegrad disease" RELATED [GARD:0002400] -synonym: "FBP1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229700] +synonym: "FBP1D" RELATED ABBREVIATION [MONDO:Lexical] synonym: "fructose 1 phosphate aldolase deficiency" EXACT [DOID:5204] synonym: "fructose 1,6 diphosphatase deficiency" RELATED [GARD:0002400] -synonym: "fructose-1,6-bisphosphatase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:229700] -synonym: "fructose-1,6-diphosphatase deficiency" EXACT [DOID:5204] +synonym: "fructose-1,6-bisphosphatase deficiency" EXACT CLINGEN_LABEL [DOID:5204, MONDO:Lexical, NCIT:C128119, OMIM:229700, Orphanet:348] +synonym: "fructose-1,6-diphosphatase deficiency" EXACT [DOID:5204, Orphanet:348] xref: DOID:5204 {source="MONDO:equivalentTo"} xref: GARD:2400 {source="MONDO:GARD"} xref: ICD10CM:E74.1 {source="Orphanet:348", source="Orphanet:348/attributed", source="Orphanet:348/ntbt"} @@ -197303,10 +197333,10 @@ subset: ordo_disorder {source="Orphanet:2056"} subset: orphanet_rare {source="Orphanet:2056"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fructokinase deficiency" EXACT [Orphanet:2056] -synonym: "fructosuria, essential" EXACT [OMIM:229800, OMIM:genemap2] -synonym: "hepatic fructokinase deficiency" RELATED [OMIM:229800] -synonym: "ketohexokinase deficiency" EXACT [OMIM:229800, Orphanet:2056] +synonym: "fructokinase deficiency" EXACT [DOID:0111680, ICD10CM:E74.11, icd11.foundation:1362211287, Orphanet:2056] +synonym: "fructosuria, essential" EXACT [OMIM:229800] +synonym: "hepatic fructokinase deficiency" RELATED [] +synonym: "ketohexokinase deficiency" EXACT [DOID:0111680, icd11.foundation:1362211287, OMIM:229800, Orphanet:2056] xref: DOID:0111680 {source="MONDO:equivalentTo"} xref: GARD:6471 {source="MONDO:GARD"} xref: ICD10CM:E74.1 {source="Orphanet:2056", source="Orphanet:2056/attributed", source="Orphanet:2056/ntbt"} @@ -197336,10 +197366,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:2059"} subset: orphanet_rare {source="Orphanet:2059"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diaphragmatic hernia, abnormal face, and distal limb anomalies" RELATED [OMIM:229850] +synonym: "diaphragmatic hernia, abnormal face, and distal limb anomalies" RELATED [] synonym: "diaphragmatic hernia-abnormal face-distal limb anomalies syndrome" EXACT [Orphanet:2059] -synonym: "FRNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:229850] -synonym: "Fryns syndrome" EXACT [MONDO:Lexical, OMIM:229850] +synonym: "FRNS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Fryns syndrome" EXACT [icd11.foundation:1327847749, MONDO:Lexical, NCIT:C98932, OMIM:229850, Orphanet:2059] synonym: "Moerman Van den Berghe Fryns syndrome" RELATED [GARD:0003699, MESH:C538070] xref: GARD:3699 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2059/attributed", source="Orphanet:2059/ntbt", source="Orphanet:2059"} @@ -197372,8 +197402,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "A-fucosidase deficiency" EXACT [DOID:14500] synonym: "alpha fucosidase deficiency" EXACT [DOID:14500] -synonym: "Alpha-L-fucosidase deficiency" EXACT [OMIM:230000, Orphanet:349] -synonym: "fucosidosis" EXACT [OMIM:230000] +synonym: "Alpha-L-fucosidase deficiency" EXACT [icd11.foundation:1470242510, OMIM:230000, Orphanet:349] +synonym: "fucosidosis" EXACT [DOID:14500, icd11.foundation:1470242510, NCIT:C61274, OMIM:230000, Orphanet:349] synonym: "lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues" RELATED [GARD:0006473] xref: DOID:14500 {source="MONDO:equivalentTo"} xref: GARD:6473 {source="MONDO:GARD"} @@ -197412,15 +197442,15 @@ subset: ordo_disorder {source="Orphanet:79237"} subset: orphanet_rare {source="Orphanet:79237"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "galactokinase deficiency" EXACT CLINGEN_LABEL [OMIM:230200] +synonym: "galactokinase deficiency" EXACT CLINGEN_LABEL [DOID:14695, icd11.foundation:1173858031, NCIT:C114767, OMIM:230200, Orphanet:79237] synonym: "galactokinase deficiency galactosemia" EXACT [Orphanet:79237] -synonym: "galactokinase deficiency with cataracts" EXACT [OMIM:230200, OMIM:genemap2] -synonym: "galactosemia 2" RELATED [OMIM:230200] +synonym: "galactokinase deficiency with cataracts" EXACT [] +synonym: "galactosemia 2" RELATED [] synonym: "galactosemia II" EXACT [DOID:14695] -synonym: "galactosemia type 2" EXACT [Orphanet:79237] -synonym: "GALK deficiency" EXACT [Orphanet:79237] -synonym: "Galk deficiency" RELATED [OMIM:230200] -synonym: "GALK-D" EXACT [Orphanet:79237] +synonym: "galactosemia type 2" EXACT [NCIT:C114767, Orphanet:79237] +synonym: "GALK deficiency" EXACT [NCIT:C114767, OMIM:230200, Orphanet:79237] +synonym: "Galk deficiency" RELATED [] +synonym: "GALK-D" EXACT ABBREVIATION [Orphanet:79237] synonym: "hereditary galactokinase deficiency" RELATED [GARD:0002422] xref: DOID:14695 {source="MONDO:equivalentTo"} xref: GARD:2422 {source="MONDO:GARD"} @@ -197450,7 +197480,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2422/galacto id: MONDO:0009256 name: galactorrhea def: "Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia." [MESH:D005687] -synonym: "galactorrhea" EXACT [MONDO:ambiguous, OMIM:230300] +synonym: "galactorrhea" EXACT [MONDO:ambiguous, NCIT:C113343] synonym: "galactorrhea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0100829 {source="MONDO:otherHierarchy"} xref: ICD9:611.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -197473,15 +197503,15 @@ subset: ordo_disorder {source="Orphanet:79238"} subset: orphanet_rare {source="Orphanet:79238"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epimerase deficiency galactosemia" EXACT [Orphanet:79238] -synonym: "galactose epimerase deficiency" EXACT [OMIM:230350] -synonym: "galactosemia 3" RELATED [OMIM:230350] -synonym: "galactosemia type 3" EXACT [Orphanet:79238] -synonym: "GALE deficiency" EXACT [Orphanet:79238] -synonym: "Gale deficiency" RELATED [OMIM:230350] -synonym: "GALE-D" EXACT [Orphanet:79238] -synonym: "UDP-galactose-4-epimerase deficiency" EXACT [OMIM:230350, Orphanet:79238] -synonym: "uridine diphosphate galactose-4-epimerase deficiency" EXACT [Orphanet:79238] +synonym: "epimerase deficiency galactosemia" EXACT [DOID:0111458, Orphanet:79238] +synonym: "galactose epimerase deficiency" EXACT [DOID:0111458, OMIM:230350, Orphanet:79238] +synonym: "galactosemia 3" RELATED [] +synonym: "galactosemia type 3" EXACT [DOID:0111458, Orphanet:79238] +synonym: "GALE deficiency" EXACT [DOID:0111458, OMIM:230350, Orphanet:79238] +synonym: "Gale deficiency" RELATED [] +synonym: "GALE-D" EXACT ABBREVIATION [DOID:0111458, Orphanet:79238] +synonym: "UDP-galactose-4-epimerase deficiency" EXACT [DOID:0111458, OMIM:230350, Orphanet:79238] +synonym: "uridine diphosphate galactose-4-epimerase deficiency" EXACT [DOID:0111458, Orphanet:79238] xref: DOID:0111458 {source="MONDO:equivalentTo"} xref: GARD:5392 {source="MONDO:GARD"} xref: ICD10CM:E74.2 {source="Orphanet:79238", source="Orphanet:79238/attributed", source="Orphanet:79238/ntbt"} @@ -197508,16 +197538,16 @@ subset: ordo_disorder {source="Orphanet:79239"} subset: orphanet_rare {source="Orphanet:79239"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "classic galactosemia" EXACT CLINGEN_LABEL [] +synonym: "classic galactosemia" EXACT CLINGEN_LABEL [DOID:0111459, Orphanet:79239] synonym: "classical galactosemia, homozygous duarte-type" NARROW [] -synonym: "galactose-1-phosphate uridyltransferase deficiency" EXACT [Orphanet:79239] -synonym: "galactose-1-phosphate uridylyltransferase deficiency" RELATED [OMIM:230400] -synonym: "galactosemia" RELATED [OMIM:230400] -synonym: "galactosemia type 1" EXACT [Orphanet:79239] -synonym: "galactosemia, classic" RELATED [OMIM:230400] -synonym: "galactosemia, Duarte variant" RELATED [OMIM:230400] -synonym: "GALT deficiency" EXACT [Orphanet:79239] -synonym: "Galt deficiency" RELATED [OMIM:230400] +synonym: "galactose-1-phosphate uridyltransferase deficiency" EXACT [DOID:0111459, icd11.foundation:2011000259, Orphanet:79239] +synonym: "galactose-1-phosphate uridylyltransferase deficiency" RELATED [] +synonym: "galactosemia" RELATED [] +synonym: "galactosemia type 1" EXACT [DOID:0111459, Orphanet:79239] +synonym: "galactosemia, classic" RELATED [] +synonym: "galactosemia, Duarte variant" RELATED [] +synonym: "GALT deficiency" EXACT [DOID:0111459, OMIM:230400, Orphanet:79239] +synonym: "Galt deficiency" RELATED [] synonym: "transferase deficiency" RELATED [https://orcid.org/0000-0002-9731-6356] xref: DOID:0111459 {source="MONDO:equivalentTo"} xref: GARD:13639 {source="MONDO:GARD"} @@ -197551,11 +197581,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to" EXACT OMO:0003005 [] synonym: "gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to" EXACT [OMIM:230450] -synonym: "glutamate-cysteine ligase deficiency" EXACT [Orphanet:33574] +synonym: "glutamate-cysteine ligase deficiency" EXACT [DOID:0111681, Orphanet:33574] synonym: "hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency" EXACT OMO:0003005 [] -synonym: "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" EXACT [OMIM:230450, OMIM:genemap2] +synonym: "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" EXACT [DOID:0111681] synonym: "inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patterns/inborn_metabolic] -synonym: "inborn glutamate-cysteine ligase activity disorder" EXACT [Orphanet:33574] +synonym: "inborn glutamate-cysteine ligase activity disorder" EXACT [] synonym: "rare inborn error of glutamate-cysteine ligase activity" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0111681 {source="MONDO:equivalentTo"} xref: GARD:16631 {source="MONDO:GARD"} @@ -197585,7 +197615,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:79255"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Beta galactosidase deficiency type 1" RELATED [GARD:0006479] -synonym: "Beta-galactosidase-1 deficiency" RELATED [OMIM:230500] +synonym: "Beta-galactosidase-1 deficiency" RELATED [] synonym: "gangliosidosis generalised GM1 infantile form" RELATED OMO:0003005 [] synonym: "gangliosidosis generalised GM1 type 1" RELATED OMO:0003005 [] synonym: "gangliosidosis generalized GM1 infantile form" RELATED [GARD:0006479] @@ -197593,15 +197623,15 @@ synonym: "gangliosidosis generalized GM1 type 1" RELATED [GARD:0006479] synonym: "gangliosidosis, generalised GM1, infantile form" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, type 1" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, type I, with Cardiac involvement" RELATED OMO:0003005 [] -synonym: "gangliosidosis, generalized GM1, infantile form" RELATED [OMIM:230500] -synonym: "gangliosidosis, generalized GM1, type 1" RELATED [OMIM:230500] -synonym: "gangliosidosis, generalized GM1, type I, with Cardiac involvement" RELATED [OMIM:230500] +synonym: "gangliosidosis, generalized GM1, infantile form" RELATED [] +synonym: "gangliosidosis, generalized GM1, type 1" RELATED [] +synonym: "gangliosidosis, generalized GM1, type I, with Cardiac involvement" RELATED [] synonym: "GLB deficiency type 1" RELATED [GARD:0006479] -synonym: "Glb1 deficiency" RELATED [OMIM:230500] -synonym: "GM1-gangliosidosis, type 1" RELATED [OMIM:230500] -synonym: "GM1-gangliosidosis, type I" RELATED [OMIM:230500] -synonym: "GM1-gangliosidosis, type I, with Cardiac involvement" RELATED [OMIM:230500] -synonym: "infantile GM1 gangliosidosis" EXACT [Orphanet:79255] +synonym: "Glb1 deficiency" RELATED [] +synonym: "GM1-gangliosidosis, type 1" RELATED [] +synonym: "GM1-gangliosidosis, type I" RELATED [] +synonym: "GM1-gangliosidosis, type I, with Cardiac involvement" RELATED [] +synonym: "infantile GM1 gangliosidosis" EXACT [icd11.foundation:466200180, Orphanet:79255] synonym: "Norman-Landing disease" EXACT [Orphanet:79255] xref: DOID:0080502 {source="MONDO:equivalentTo"} xref: GARD:6479 {source="MONDO:GARD"} @@ -197638,12 +197668,12 @@ synonym: "gangliosidosis generalized GM1 type 2" RELATED [GARD:0010126] synonym: "gangliosidosis, generalised GM1, juvenile type" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, late-infantile type" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, type 2" RELATED OMO:0003005 [] -synonym: "gangliosidosis, generalized GM1, juvenile type" RELATED [OMIM:230600] -synonym: "gangliosidosis, generalized GM1, late-infantile type" RELATED [OMIM:230600] -synonym: "gangliosidosis, generalized GM1, type 2" RELATED [OMIM:230600] -synonym: "GM1-gangliosidosis, type 2" RELATED [OMIM:230600] -synonym: "GM1-gangliosidosis, type II" RELATED [OMIM:230600] -synonym: "juvenile GM1 gangliosidosis" EXACT [Orphanet:79256] +synonym: "gangliosidosis, generalized GM1, juvenile type" RELATED [] +synonym: "gangliosidosis, generalized GM1, late-infantile type" RELATED [] +synonym: "gangliosidosis, generalized GM1, type 2" RELATED [] +synonym: "GM1-gangliosidosis, type 2" RELATED [] +synonym: "GM1-gangliosidosis, type II" RELATED [] +synonym: "juvenile GM1 gangliosidosis" EXACT [DOID:0080501, icd11.foundation:1132250614, Orphanet:79256] synonym: "late-infantile GM1 gangliosidosis" EXACT [Orphanet:79256] xref: DOID:0080501 {source="MONDO:equivalentTo"} xref: GARD:10126 {source="MONDO:GARD"} @@ -197671,7 +197701,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:79257"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adult GM1 gangliosidosis" RELATED [GARD:0002431] -synonym: "adult-onset GM1 gangliosidosis" EXACT [Orphanet:79257] +synonym: "adult-onset GM1 gangliosidosis" EXACT [DOID:0080489, Orphanet:79257] synonym: "Beta-galactosidase deficiency type 3" RELATED [GARD:0002431] synonym: "gangliosidosis generalised GM1 chronic type" RELATED OMO:0003005 [] synonym: "gangliosidosis generalized GM1 chronic type" RELATED [GARD:0002431] @@ -197679,11 +197709,11 @@ synonym: "gangliosidosis GM1 type 3" RELATED [GARD:0002431] synonym: "gangliosidosis, generalised GM1, adult type" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, chronic type" RELATED OMO:0003005 [] synonym: "gangliosidosis, generalised GM1, type 3" RELATED OMO:0003005 [] -synonym: "gangliosidosis, generalized GM1, adult type" RELATED [OMIM:230650] -synonym: "gangliosidosis, generalized GM1, chronic type" RELATED [OMIM:230650] -synonym: "gangliosidosis, generalized GM1, type 3" RELATED [OMIM:230650] -synonym: "GM1-gangliosidosis, type 3" RELATED [OMIM:230650] -synonym: "GM1-gangliosidosis, type III" RELATED [OMIM:230650] +synonym: "gangliosidosis, generalized GM1, adult type" RELATED [] +synonym: "gangliosidosis, generalized GM1, chronic type" RELATED [] +synonym: "gangliosidosis, generalized GM1, type 3" RELATED [] +synonym: "GM1-gangliosidosis, type 3" RELATED [] +synonym: "GM1-gangliosidosis, type III" RELATED [] xref: DOID:0080489 {source="MONDO:equivalentTo"} xref: GARD:2431 {source="MONDO:GARD"} xref: ICD10CM:E75.1 {source="Orphanet:79257/attributed", source="Orphanet:79257/ntbt", source="Orphanet:79257"} @@ -197711,10 +197741,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:2067"} subset: orphanet_rare {source="Orphanet:2067"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gapo syndrome" EXACT [OMIM:230740] -synonym: "Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome" EXACT [Orphanet:2067] +synonym: "gapo syndrome" EXACT [DOID:0112249, icd11.foundation:909165198, OMIM:230740, Orphanet:2067] +synonym: "Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome" EXACT [DOID:0112249, Orphanet:2067] synonym: "Growth retardation, alopecia, pseudoanodontia and optic atrophy" RELATED [GARD:0000400] -synonym: "Growth retardation, alopecia, pseudoanodontia, and optic atrophy" RELATED [OMIM:230740] +synonym: "Growth retardation, alopecia, pseudoanodontia, and optic atrophy" RELATED [] xref: DOID:0112249 {source="MONDO:equivalentTo"} xref: GARD:400 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2067", source="Orphanet:2067/attributed", source="Orphanet:2067/ntbt"} @@ -197743,11 +197773,11 @@ subset: ordo_morphological_anomaly {source="Orphanet:2368"} subset: orphanet_rare {source="Orphanet:2368"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "abdominal wall defects" RELATED [OMIM:230750] +synonym: "abdominal wall defects" RELATED [] synonym: "congenital fissure of the abdominal cavity" RELATED [GARD:0008661] -synonym: "eventration" BROAD [NCIT:C84725] -synonym: "gastroschisis" EXACT [OMIM:230750] -synonym: "laparoschisis" EXACT [Orphanet:2368] +synonym: "eventration" BROAD [] +synonym: "gastroschisis" EXACT [DOID:11044, ICD10CM:Q79.3, icd11.foundation:551758329, NCIT:C84725, OMIM:230750, Orphanet:2368] +synonym: "laparoschisis" EXACT [icd11.foundation:551758329, Orphanet:2368] xref: DOID:11044 {source="EFO:1000949", source="MONDO:equivalentTo"} xref: EFO:1000949 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:8661 {source="MONDO:GARD"} @@ -197775,17 +197805,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:77259"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acid Beta-glucosidase deficiency" EXACT [DOID:0110957] -synonym: "Gaucher disease type 1" RELATED [Orphanet:77259] +synonym: "acid Beta-glucosidase deficiency" EXACT [DOID:0110957, OMIM:230800] +synonym: "Gaucher disease type 1" RELATED [] synonym: "Gaucher disease type I" EXACT CLINGEN_LABEL [] synonym: "Gaucher disease, noncerebral juvenile" EXACT [DOID:0110957, OMIM:230800] -synonym: "Gaucher disease, type 1" RELATED [OMIM:230800] -synonym: "Gaucher disease, type I" RELATED [OMIM:230800] -synonym: "Gaucher's disease type I" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Gaucher disease, type 1" RELATED [] +synonym: "Gaucher disease, type I" RELATED [] +synonym: "Gaucher's disease type I" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110957, MONDO:LexicalVariant] synonym: "Gba deficiency" EXACT [DOID:0110957, OMIM:230800] -synonym: "Gd 1" RELATED [OMIM:230800] -synonym: "GD I" EXACT [DOID:0110957] -synonym: "glucocerebrosidase deficiency" RELATED EXCLUDE [DOID:0110957] +synonym: "Gd 1" RELATED [] +synonym: "GD I" EXACT ABBREVIATION [DOID:0110957] +synonym: "glucocerebrosidase deficiency" RELATED EXCLUDE [] synonym: "non-cerebral juvenile Gaucher disease" EXACT [Orphanet:77259] xref: DOID:0110957 {source="MONDO:equivalentTo"} xref: GARD:2441 {source="MONDO:GARD"} @@ -197815,15 +197845,15 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:77260"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute neuronopathic Gaucher disease" EXACT [Orphanet:77260] -synonym: "Gaucher disease type 2" RELATED [Orphanet:77260] +synonym: "Gaucher disease type 2" RELATED [] synonym: "Gaucher disease type II" EXACT CLINGEN_LABEL [] synonym: "Gaucher disease, acute neuronopathic type" EXACT [DOID:0110958, OMIM:230900] synonym: "Gaucher disease, infantile cerebral" RELATED [GARD:0002442] -synonym: "Gaucher disease, type 2" RELATED [OMIM:230900] -synonym: "Gaucher disease, type II" RELATED [OMIM:230900] -synonym: "Gaucher's disease type II" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Gd 2" RELATED [OMIM:230900] -synonym: "GD II" EXACT [DOID:0110958] +synonym: "Gaucher disease, type 2" RELATED [] +synonym: "Gaucher disease, type II" RELATED [] +synonym: "Gaucher's disease type II" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110958, MONDO:LexicalVariant] +synonym: "Gd 2" RELATED [] +synonym: "GD II" EXACT ABBREVIATION [DOID:0110958] synonym: "infantile cerebral Gaucher disease" EXACT [DOID:0110958, Orphanet:77260] xref: DOID:0110958 {source="MONDO:equivalentTo"} xref: GARD:2442 {source="MONDO:GARD"} @@ -197855,20 +197885,20 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebral juvenile and adult form of Gaucher disease" EXACT [Orphanet:77261] synonym: "chronic neuronopathic Gaucher disease" EXACT [Orphanet:77261] -synonym: "Gaucher disease type 3" RELATED [Orphanet:77261] +synonym: "Gaucher disease type 3" RELATED [] synonym: "Gaucher disease type III" EXACT CLINGEN_LABEL [] -synonym: "Gaucher disease, chronic neuronopathic type" EXACT [DOID:0110959] +synonym: "Gaucher disease, chronic neuronopathic type" EXACT [DOID:0110959, OMIM:231000] synonym: "Gaucher disease, juvenile and adult, cerebral" EXACT [DOID:0110959, OMIM:231000] -synonym: "Gaucher disease, Norrbottnian type" RELATED [OMIM:231000] -synonym: "Gaucher disease, Subacute neuronopathic type" EXACT [DOID:0110959, OMIM:231000] -synonym: "Gaucher disease, subacute neuronopathic type" EXACT [Orphanet:77261] -synonym: "Gaucher disease, type 3" RELATED [OMIM:231000] -synonym: "Gaucher disease, type 3A" RELATED [OMIM:231000] -synonym: "Gaucher disease, type 3B" RELATED [OMIM:231000] -synonym: "Gaucher disease, type III" RELATED [OMIM:231000] -synonym: "Gaucher's disease type III" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Gd 3" RELATED [OMIM:231000] -synonym: "GD III" EXACT [DOID:0110959] +synonym: "Gaucher disease, Norrbottnian type" RELATED [] +synonym: "Gaucher disease, Subacute neuronopathic type" EXACT [DOID:0110959, OMIM:231000, Orphanet:77261] +synonym: "Gaucher disease, subacute neuronopathic type" EXACT [DOID:0110959, OMIM:231000, Orphanet:77261] +synonym: "Gaucher disease, type 3" RELATED [] +synonym: "Gaucher disease, type 3A" RELATED [] +synonym: "Gaucher disease, type 3B" RELATED [] +synonym: "Gaucher disease, type III" RELATED [] +synonym: "Gaucher's disease type III" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110959, MONDO:LexicalVariant] +synonym: "Gd 3" RELATED [] +synonym: "GD III" EXACT ABBREVIATION [DOID:0110959] xref: DOID:0110959 {source="MONDO:equivalentTo"} xref: GARD:2443 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:77261", source="DOID:0110959", source="Orphanet:77261/attributed", source="Orphanet:77261/ntbt"} @@ -197901,13 +197931,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:2072"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cardiovascular Gaucher disease" EXACT [Orphanet:2072] +synonym: "cardiovascular Gaucher disease" EXACT [DOID:0112250, Orphanet:2072] synonym: "Gaucher disease - ophthalmoplegia - cardiovascular calcification" RELATED [GARD:0012504] -synonym: "Gaucher disease type 3C" EXACT [Orphanet:2072] -synonym: "Gaucher disease, type 3C" RELATED [OMIM:231005] -synonym: "Gaucher disease, type IIIC" RELATED [OMIM:231005] -synonym: "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" EXACT CLINGEN_LABEL [] -synonym: "Gaucher-like disease" EXACT [Orphanet:2072] +synonym: "Gaucher disease type 3C" EXACT [DOID:0112250, Orphanet:2072] +synonym: "Gaucher disease, type 3C" RELATED [] +synonym: "Gaucher disease, type IIIC" RELATED [] +synonym: "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" EXACT CLINGEN_LABEL [DOID:0112250, Orphanet:2072] +synonym: "Gaucher-like disease" EXACT [DOID:0112250, Orphanet:2072] synonym: "pseudo Gaucher disease" RELATED [GARD:0002445] xref: DOID:0112250 {source="MONDO:equivalentTo"} xref: GARD:12504 {source="MONDO:GARD"} @@ -197930,11 +197960,11 @@ subset: gard_rare {source="GARD:15172", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADAMTSL2 geleophysic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "GELEOPHYSIC dysplasia 1" RELATED [OMIM:231050] -synonym: "geleophysic dysplasia 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:231050] +synonym: "GELEOPHYSIC dysplasia 1" RELATED [] +synonym: "geleophysic dysplasia 1" EXACT CLINGEN_LABEL [DOID:0111725, MONDO:Lexical, OMIM:231050] synonym: "geleophysic dysplasia caused by mutation in ADAMTSL2" EXACT [MONDO:design_pattern] -synonym: "Geleophysic dysplasia type 1" EXACT [MONDORULE:1, OMIM:231050] -synonym: "GPHYSD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231050] +synonym: "Geleophysic dysplasia type 1" EXACT [MONDORULE:1] +synonym: "GPHYSD1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111725 {source="MONDO:equivalentTo"} xref: GARD:15172 {source="MONDO:GARD"} xref: MEDGEN:479777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -197961,8 +197991,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Gardner-Silengo-Wachtel syndrome" EXACT [OMIM:231060, Orphanet:2075] synonym: "genito palato cardiac syndrome" RELATED [GARD:0002460] -synonym: "GENITOPALATOCARDIAC syndrome" RELATED [OMIM:231060] -synonym: "Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect" RELATED [OMIM:231060] +synonym: "GENITOPALATOCARDIAC syndrome" RELATED [] +synonym: "Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect" RELATED [] xref: GARD:2460 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2075/attributed", source="Orphanet:2075/ntbt", source="Orphanet:2075"} xref: icd11.foundation:2011995320 {source="MONDO:equivalentTo"} @@ -197986,12 +198016,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2078"} subset: orphanet_rare {source="Orphanet:2078"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "geroderma osteodysplastica" EXACT CLINGEN_LABEL [] -synonym: "GERODERMA OSTEODYSPLASTICUM" RELATED [MONDO:Lexical, OMIM:231070] +synonym: "geroderma osteodysplastica" EXACT CLINGEN_LABEL [DOID:0111266, Orphanet:2078] +synonym: "GERODERMA OSTEODYSPLASTICUM" RELATED [MONDO:Lexical] synonym: "Geroderma osteodysplasticum" RELATED [GARD:0000413] -synonym: "Gerodermia osteodysplastica" RELATED [OMIM:231070] -synonym: "GO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231070] -synonym: "Walt Disney dwarfism" RELATED [OMIM:231070] +synonym: "Gerodermia osteodysplastica" RELATED [] +synonym: "GO" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Walt Disney dwarfism" RELATED [] xref: DOID:0111266 {source="MONDO:equivalentTo"} xref: GARD:413 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:2078", source="Orphanet:2078/attributed", source="Orphanet:2078/ntbt"} @@ -198020,7 +198050,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2077"} subset: orphanet_rare {source="Orphanet:2077"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "German syndrome" EXACT [OMIM:231080] +synonym: "German syndrome" EXACT [OMIM:231080, Orphanet:2077] xref: GARD:2462 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2077", source="Orphanet:2077/attributed", source="Orphanet:2077/ntbt"} xref: MEDGEN:854357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -198042,13 +198072,13 @@ subset: gard_rare {source="GARD:18365", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "complete hydatidiform mole caused by mutation in NLRP7" EXACT [MONDO:design_pattern] -synonym: "gestational trophoblastic disease" RELATED [OMIM:231090] -synonym: "hydatidiform mole" RELATED [OMIM:231090] -synonym: "hydatidiform Mole, complete" RELATED [OMIM:231090] -synonym: "hydatidiform MOLE, recurrent, 1" RELATED [OMIM:231090] +synonym: "gestational trophoblastic disease" RELATED [] +synonym: "hydatidiform mole" RELATED [] +synonym: "hydatidiform Mole, complete" RELATED [] +synonym: "hydatidiform MOLE, recurrent, 1" RELATED [] synonym: "hydatidiform mole, recurrent, 1" EXACT [MONDO:Lexical, OMIM:231090] -synonym: "hydatidiform Mole, recurrent, type 1" EXACT [MONDORULE:1, OMIM:231090] -synonym: "HYDM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231090] +synonym: "hydatidiform Mole, recurrent, type 1" EXACT [MONDORULE:1] +synonym: "HYDM1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "NLRP7 complete hydatidiform mole" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18365 {source="MONDO:GARD"} xref: MEDGEN:483038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -198074,13 +198104,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:1802"} subset: orphanet_rare {source="Orphanet:1802"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diaphyseal dysplasia-anemia syndrome" EXACT [Orphanet:1802] -synonym: "GHDD" RELATED ABBREVIATION [GARD:0010297, MONDO:Lexical, OMIM:231095] -synonym: "GHOSAL hematodiaphyseal dysplasia" RELATED [OMIM:231095] -synonym: "ghosal hematodiaphyseal dysplasia" EXACT [GARD:0010297, MONDO:Lexical, OMIM:231095] +synonym: "diaphyseal dysplasia-anemia syndrome" EXACT [DOID:0112251, Orphanet:1802] +synonym: "GHDD" RELATED ABBREVIATION [GARD:0010297, MONDO:Lexical] +synonym: "GHOSAL hematodiaphyseal dysplasia" RELATED [] +synonym: "ghosal hematodiaphyseal dysplasia" EXACT [DOID:0112251, GARD:0010297, MONDO:Lexical, OMIM:231095, Orphanet:1802] synonym: "Ghosal hematodiaphyseal dysplasia syndrome" RELATED [GARD:0010297] -synonym: "Ghosal hematodiaphyseal syndrome" EXACT [OMIM:231095, OMIM:genemap2] -synonym: "Ghosal syndrome" EXACT [GARD:0010297, OMIM:231095, Orphanet:1802] +synonym: "Ghosal hematodiaphyseal syndrome" EXACT [DOID:0112251] +synonym: "Ghosal syndrome" EXACT [DOID:0112251, GARD:0010297, OMIM:231095, Orphanet:1802] xref: DOID:0112251 {source="MONDO:equivalentTo"} xref: GARD:10297 {source="MONDO:GARD"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -198111,18 +198141,18 @@ subset: ordo_disorder {source="Orphanet:446"} subset: orphanet_rare {source="Orphanet:446"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alloimmune Hepatitis, congenital" RELATED [OMIM:231100] -synonym: "giant cell Hepatitis" RELATED [OMIM:231100] +synonym: "alloimmune Hepatitis, congenital" RELATED [] +synonym: "giant cell Hepatitis" RELATED [] synonym: "giant cell Hepatitis (formerly)" RELATED [GARD:0007172] -synonym: "giant cell Hepatitis, formerly" RELATED [OMIM:231100] +synonym: "giant cell Hepatitis, formerly" RELATED [] synonym: "hemochromatosis neonatal" RELATED [GARD:0007172] -synonym: "hemochromatosis, neonatal" RELATED [OMIM:231100] +synonym: "hemochromatosis, neonatal" RELATED [] synonym: "idiopathic neonatal hemochromatosis" RELATED [GARD:0007172] -synonym: "neonatal Hepatitis" RELATED [OMIM:231100] +synonym: "neonatal Hepatitis" RELATED [] synonym: "neonatal hepatitis (formerly)" RELATED [GARD:0007172] -synonym: "neonatal Hepatitis, formerly" RELATED [OMIM:231100] -synonym: "Nh" RELATED [OMIM:231100] -synonym: "Nhc" RELATED [OMIM:231100] +synonym: "neonatal Hepatitis, formerly" RELATED [] +synonym: "Nh" RELATED [] +synonym: "Nhc" RELATED [] xref: GARD:7172 {source="MONDO:GARD"} xref: ICD10CM:E83.1 {source="Orphanet:446/attributed", source="Orphanet:446/ntbt", source="Orphanet:446"} xref: MEDGEN:82768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -198150,25 +198180,25 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bernard - Soulier thrombopathy" EXACT [DOID:2217] synonym: "Bernard Soulier syndrome" EXACT [DOID:2217] -synonym: "Bernard-Soulier syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:231200] -synonym: "Bernard-Soulier syndrome, type A1" RELATED [OMIM:231200] -synonym: "Bernard-Soulier syndrome, type A1 (recessive)" EXACT [OMIM:231200, OMIM:genemap2] -synonym: "Bernard-Soulier syndrome, type B" RELATED [OMIM:231200] -synonym: "Bernard-Soulier syndrome, type C" RELATED [OMIM:231200] -synonym: "bleeding disorder, Platelet-type, 1" RELATED [OMIM:231200] -synonym: "BSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231200] +synonym: "Bernard-Soulier syndrome" EXACT CLINGEN_LABEL [DOID:2217, icd11.foundation:507309898, MONDO:Lexical, NCIT:C84595, OMIM:231200, Orphanet:274] +synonym: "Bernard-Soulier syndrome, type A1" RELATED [] +synonym: "Bernard-Soulier syndrome, type A1 (recessive)" EXACT [] +synonym: "Bernard-Soulier syndrome, type B" RELATED [] +synonym: "Bernard-Soulier syndrome, type C" RELATED [] +synonym: "bleeding disorder, Platelet-type, 1" RELATED [] +synonym: "BSS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "deficiency of platelet glycoprotein 1b" RELATED [GARD:0002470] synonym: "giant platelet disease" RELATED [GARD:0002470] -synonym: "giant platelet disorder, isolated" EXACT [OMIM:231200, OMIM:genemap2] -synonym: "giant platelet syndrome" EXACT [Orphanet:274] -synonym: "glycoprotein Ib, Platelet, deficiency of" RELATED [OMIM:231200] +synonym: "giant platelet disorder, isolated" EXACT [] +synonym: "giant platelet syndrome" EXACT [DOID:2217, icd11.foundation:507309898, Orphanet:274] +synonym: "glycoprotein Ib, Platelet, deficiency of" RELATED [] synonym: "hemorrhagic dystrophic thrombocytopenia" EXACT [DOID:2217] synonym: "Hemorrhagiparous thrombocytic dystrophy" EXACT [Orphanet:274] synonym: "macrothrombocytopenia, familial Bernard-Soulier type" RELATED [GARD:0002470] synonym: "Platelet glycoprotein 1b, deficiency of" RELATED [GARD:0002470] -synonym: "Platelet glycoprotein Ib deficiency" RELATED [OMIM:231200] +synonym: "Platelet glycoprotein Ib deficiency" RELATED [] synonym: "thrombopathy, Bernard-Soulier" EXACT [DOID:2217] -synonym: "Von Willebrand Factor receptor deficiency" RELATED [OMIM:231200] +synonym: "Von Willebrand Factor receptor deficiency" RELATED [] xref: DOID:2217 {source="MONDO:equivalentTo"} xref: GARD:2470 {source="MONDO:GARD"} xref: ICD10CM:D69.1 {source="Orphanet:274/inclusion", source="Orphanet:274", source="Orphanet:274/ntbt"} @@ -198198,15 +198228,15 @@ subset: gard_rare {source="GARD:18224", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:98976"} subset: orphanet_rare {source="Orphanet:98976"} subset: rare -synonym: "buphthalmos" BROAD [DOID:11211, OMIM:231300] -synonym: "glaucoma 3, primary congenital, A" RELATED [MONDO:Lexical, OMIM:231300] -synonym: "glaucoma 3, primary congenital, type a" EXACT [MONDORULE:1, OMIM:231300] -synonym: "glaucoma 3A, primary open angle, congenital, juvenile, or adult onset" EXACT [OMIM:231300, OMIM:genemap2] -synonym: "glaucoma, congenital" RELATED [OMIM:231300] -synonym: "glaucoma, primary open angle, adult-onset" RELATED [OMIM:231300] -synonym: "glaucoma, primary open angle, juvenile-onset" RELATED [OMIM:231300] -synonym: "GLC3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231300] -synonym: "Primary Congenital glaucoma 3A" EXACT [NCIT:C148260] +synonym: "buphthalmos" BROAD [] +synonym: "glaucoma 3, primary congenital, A" RELATED [MONDO:Lexical] +synonym: "glaucoma 3, primary congenital, type a" EXACT [MONDORULE:1] +synonym: "glaucoma 3A, primary open angle, congenital, juvenile, or adult onset" EXACT [] +synonym: "glaucoma, congenital" RELATED [] +synonym: "glaucoma, primary open angle, adult-onset" RELATED [] +synonym: "glaucoma, primary open angle, juvenile-onset" RELATED [] +synonym: "GLC3A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Primary Congenital glaucoma 3A" EXACT [DOID:11211, NCIT:C148260] synonym: "simple buphthalmos" EXACT [DOID:11211] xref: DOID:11211 {source="MONDO:equivalentTo"} xref: GARD:18224 {source="MONDO:GARD"} @@ -198232,7 +198262,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009278 name: obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency subset: clingen {source="MONDO:CLINGEN"} -synonym: "SCHAD deficiency, formerly" RELATED [OMIM:231530] +synonym: "SCHAD deficiency, formerly" RELATED [] xref: NANDO:2200516 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0009278 {source="MONDO:CLINGEN"} property_value: IAO:0000231 MONDO:TermsMerged @@ -198255,25 +198285,25 @@ synonym: "3A syndrome" EXACT [Orphanet:869] synonym: "4A syndrome" EXACT [Orphanet:869] synonym: "AAA" RELATED ABBREVIATION [GARD:0000457] synonym: "AAA syndrome" EXACT [Orphanet:869] -synonym: "AAAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231550] +synonym: "AAAS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "achalasia addisonianism alacrimia syndrome" RELATED [GARD:0000457] synonym: "achalasia alacrima syndrome" RELATED [GARD:0000457] synonym: "achalasia-addisonianism-alacrima syndrome" EXACT [MONDO:Lexical, OMIM:231550, Orphanet:869] synonym: "achalasia-addisonianism-alacrimia syndrome" EXACT [DOID:0050602] -synonym: "achalasia-alacrima syndrome" RELATED [OMIM:231550] -synonym: "ACTH-resistant adrenal insufficiency, achalasia and alacrima" RELATED [OMIM:231550] +synonym: "achalasia-alacrima syndrome" RELATED [] +synonym: "ACTH-resistant adrenal insufficiency, achalasia and alacrima" RELATED [] synonym: "Addisonian achalasia syndrome" RELATED [GARD:0000457] -synonym: "Addisonian-achalasia syndrome" RELATED [OMIM:231550] +synonym: "Addisonian-achalasia syndrome" RELATED [] synonym: "adrenal insufficiency-achalasia-alacrima syndrome" EXACT [Orphanet:869] -synonym: "alacrima-achalasia-addisonianism" RELATED [OMIM:231550] -synonym: "alacrima-achalasia-adrenal insufficiency neurologic disorder" RELATED [OMIM:231550] +synonym: "alacrima-achalasia-addisonianism" RELATED [] +synonym: "alacrima-achalasia-adrenal insufficiency neurologic disorder" RELATED [] synonym: "Allgrove syndrome" EXACT [DOID:0050602, OMIM:231550, Orphanet:869] synonym: "Double A syndrome" EXACT [Orphanet:869] -synonym: "glucocorticoid deficiency and achalasia" RELATED [OMIM:231550] -synonym: "hypoadrenalism with achalasia" RELATED [OMIM:231550] +synonym: "glucocorticoid deficiency and achalasia" RELATED [] +synonym: "hypoadrenalism with achalasia" RELATED [] synonym: "quaternary A syndrome" EXACT [Orphanet:869] synonym: "triple A syndrome" RELATED [GARD:0000457] -synonym: "triple-a syndrome" EXACT [OMIM:231550] +synonym: "triple-a syndrome" EXACT [DOID:0050602, OMIM:231550] xref: DOID:0050602 {source="MONDO:equivalentTo"} xref: GARD:457 {source="MONDO:GARD"} xref: ICD10CM:E27.4 {source="Orphanet:869", source="Orphanet:869/attributed", source="Orphanet:869/ntbt"} @@ -198300,7 +198330,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/457/triple-a [Term] id: MONDO:0009280 name: monosodium glutamate sensitivity -synonym: "Chinese restaurant syndrome" RELATED [OMIM:231630] +synonym: "Chinese restaurant syndrome" RELATED [] synonym: "monosodium glutamate sensitivity" EXACT [OMIM:231630] xref: ICD9:989.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -198321,21 +198351,21 @@ subset: ordo_disorder {source="Orphanet:25"} subset: orphanet_rare {source="Orphanet:25"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ga 1" RELATED [OMIM:231670] -synonym: "GA1" EXACT ABBREVIATION [Orphanet:25] +synonym: "Ga 1" RELATED [] +synonym: "GA1" EXACT ABBREVIATION [DOID:0111254, OMIM:231670, Orphanet:25] synonym: "GCDHD" EXACT ABBREVIATION [Orphanet:25] -synonym: "glutaric acidemia 1" RELATED [GARD:0006522, OMIM:231670] -synonym: "glutaric acidemia I" RELATED [OMIM:231670] -synonym: "glutaric acidemia type 1" EXACT [MONDORULE:1, OMIM:231670, Orphanet:25] +synonym: "glutaric acidemia 1" RELATED [GARD:0006522] +synonym: "glutaric acidemia I" RELATED [] +synonym: "glutaric acidemia type 1" EXACT [MONDORULE:1, NCIT:C99101, Orphanet:25] synonym: "glutaric acidemia type I" RELATED [GARD:0006522] synonym: "glutaric acidemia, type 1" RELATED [] -synonym: "glutaric aciduria 1" RELATED [OMIM:231670] +synonym: "glutaric aciduria 1" RELATED [] synonym: "glutaric aciduria type 1" EXACT [Orphanet:25] synonym: "glutaric aciduria type I" RELATED [] synonym: "glutaric aciduria, type 1" EXACT [NCIT:C99101] -synonym: "glutaricaciduria, type I" EXACT [OMIM:231670, OMIM:genemap2] -synonym: "glutaryl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [OMIM:231670] -synonym: "glutaryl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:25] +synonym: "glutaricaciduria, type I" EXACT [] +synonym: "glutaryl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [DOID:0111254, OMIM:231670, Orphanet:25] +synonym: "glutaryl-coenzyme A dehydrogenase deficiency" EXACT [DOID:0111254, Orphanet:25] xref: DOID:0111254 {source="MONDO:equivalentTo"} xref: GARD:6522 {source="MONDO:GARD"} xref: ICD10CM:E72.3 {source="Orphanet:25/ntbt", source="MONDO:relatedTo", source="Orphanet:25/inclusion", source="Orphanet:25"} @@ -198369,31 +198399,31 @@ subset: ordo_disorder {source="Orphanet:26791"} subset: orphanet_rare {source="Orphanet:26791"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "electron transfer flavoprotein deficiency" EXACT [DOID:0060358] +synonym: "electron transfer flavoprotein deficiency" EXACT [DOID:0060358, icd11.foundation:977130875] synonym: "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" EXACT [DOID:0060358] synonym: "EMA" RELATED ABBREVIATION [GARD:0006523] -synonym: "Etfa deficiency" NARROW [OMIM:231680] -synonym: "Etfb deficiency" NARROW [OMIM:231680] -synonym: "Etfdh deficiency" NARROW [OMIM:231680] -synonym: "ethylmalonic-Adipicaciduria" RELATED [OMIM:231680] -synonym: "Ga 2" RELATED [OMIM:231680] -synonym: "glutaric acidemia 2" RELATED [OMIM:231680] -synonym: "glutaric acidemia 2A" NARROW [OMIM:231680] -synonym: "glutaric acidemia 2B" NARROW [OMIM:231680] -synonym: "glutaric acidemia 2C" NARROW [OMIM:231680] -synonym: "glutaric acidemia IIA" NARROW [OMIM:231680, OMIM:genemap2] -synonym: "glutaric acidemia IIB" NARROW [OMIM:231680, OMIM:genemap2] -synonym: "glutaric acidemia IIC" NARROW [OMIM:231680, OMIM:genemap2] -synonym: "glutaric acidemia type 2" EXACT [DOID:0060358, Orphanet:26791] -synonym: "glutaric acidemia type II" EXACT [GARD:0006523, https://orcid.org/0000-0001-6330-7526, OMIM:231680] -synonym: "glutaric aciduria 2" RELATED [OMIM:231680] -synonym: "glutaric aciduria type 2" EXACT [DOID:0060358, Orphanet:26791] +synonym: "Etfa deficiency" NARROW [] +synonym: "Etfb deficiency" NARROW [] +synonym: "Etfdh deficiency" NARROW [] +synonym: "ethylmalonic-Adipicaciduria" RELATED [] +synonym: "Ga 2" RELATED [] +synonym: "glutaric acidemia 2" RELATED [] +synonym: "glutaric acidemia 2A" NARROW [] +synonym: "glutaric acidemia 2B" NARROW [] +synonym: "glutaric acidemia 2C" NARROW [] +synonym: "glutaric acidemia IIA" NARROW [] +synonym: "glutaric acidemia IIB" NARROW [] +synonym: "glutaric acidemia IIC" NARROW [] +synonym: "glutaric acidemia type 2" EXACT [DOID:0060358, NCIT:C84907, Orphanet:26791] +synonym: "glutaric acidemia type II" EXACT [GARD:0006523, https://orcid.org/0000-0001-6330-7526] +synonym: "glutaric aciduria 2" RELATED [] +synonym: "glutaric aciduria type 2" EXACT [DOID:0060358, icd11.foundation:977130875, Orphanet:26791] synonym: "Glutaric Aciduria Type II" EXACT [NORD:1192] synonym: "glutaric aciduria, type 2" EXACT [NCIT:C84907] synonym: "MAD deficiency" EXACT [DOID:0060358, Orphanet:26791] synonym: "MADD" EXACT ABBREVIATION [DOID:0060358, MONDO:Lexical, OMIM:231680, Orphanet:26791] synonym: "multiple acyl Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84907] -synonym: "multiple acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:231680] +synonym: "multiple acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [DOID:0060358, icd11.foundation:977130875, MONDO:Lexical, NCIT:C84907, OMIM:231680, Orphanet:26791] xref: DOID:0060358 {source="MONDO:equivalentTo"} xref: GARD:6523 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:26791", source="Orphanet:26791/attributed", source="Orphanet:26791/ntbt"} @@ -198432,18 +198462,18 @@ subset: ordo_disorder {source="Orphanet:35706"} subset: orphanet_rare {source="Orphanet:35706"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ga 3" RELATED [OMIM:231690] +synonym: "Ga 3" RELATED [] synonym: "GA III" RELATED [GARD:0012469] -synonym: "GA3" RELATED ABBREVIATION [OMIM:231690] -synonym: "glutaric acidemia type 3" EXACT CLINGEN_LABEL [] +synonym: "GA3" RELATED ABBREVIATION [] +synonym: "glutaric acidemia type 3" EXACT CLINGEN_LABEL [DOID:0112246, Orphanet:35706] synonym: "glutaric acidemia type III" RELATED [GARD:0012469] synonym: "glutaric aciduria (disease) caused by mutation in SUGCT" EXACT [] -synonym: "glutaric aciduria 3" RELATED [OMIM:231690] -synonym: "glutaric aciduria III" RELATED [OMIM:231690] -synonym: "glutaric aciduria type 3" EXACT [MONDORULE:1, OMIM:231690, Orphanet:35706] +synonym: "glutaric aciduria 3" RELATED [] +synonym: "glutaric aciduria III" RELATED [] +synonym: "glutaric aciduria type 3" EXACT [DOID:0112246, MONDORULE:1, Orphanet:35706] synonym: "glutaric aciduria type III" RELATED [GARD:0012469] -synonym: "glutaryl-CoA oxidase deficiency" EXACT [Orphanet:35706] -synonym: "glutaryl-Coa oxidase deficiency" RELATED [OMIM:231690] +synonym: "glutaryl-CoA oxidase deficiency" EXACT [DOID:0112246, OMIM:231690, Orphanet:35706] +synonym: "glutaryl-Coa oxidase deficiency" RELATED [] synonym: "SUGCT glutaric aciduria (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0112246 {source="MONDO:equivalentTo"} xref: GARD:12469 {source="MONDO:GARD"} @@ -198474,10 +198504,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:289849"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anaemia due to" RELATED OMO:0003005 [] -synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to" RELATED [MONDO:Lexical, OMIM:231900] -synonym: "GSSDE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:231900] +synonym: "glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to" RELATED [MONDO:Lexical] +synonym: "GSSDE" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hemolytic anaemia due to glutathione synthetase deficiency" EXACT OMO:0003005 [] -synonym: "hemolytic anemia due to glutathione synthetase deficiency" EXACT [OMIM:231900, OMIM:genemap2] +synonym: "hemolytic anemia due to glutathione synthetase deficiency" EXACT [] xref: DOID:0112252 {source="MONDO:equivalentTo"} xref: GARD:17331 {source="MONDO:GARD"} xref: ICD10CM:D55.1 {source="Orphanet:289849/attributed", source="Orphanet:289849/ntbt", source="Orphanet:289849"} @@ -198504,13 +198534,13 @@ subset: ordo_disorder {source="Orphanet:33573"} subset: orphanet_rare {source="Orphanet:33573"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gamma-glutamyltransferase deficiency" RELATED [OMIM:231950] -synonym: "gamma-glutamyltranspeptidase deficiency" RELATED [OMIM:231950] -synonym: "GGT deficiency" RELATED [OMIM:231950] +synonym: "gamma-glutamyltransferase deficiency" RELATED [] +synonym: "gamma-glutamyltranspeptidase deficiency" RELATED [] +synonym: "GGT deficiency" RELATED [] synonym: "GGT1 deficiency" RELATED [GARD:0010099] -synonym: "glutathioninuria" EXACT [OMIM:231950, OMIM:genemap2] -synonym: "glutathionuria" EXACT [OMIM:231950, Orphanet:33573] -synonym: "GTG deficiency" RELATED [OMIM:231950] +synonym: "glutathioninuria" EXACT [] +synonym: "glutathionuria" EXACT [DOID:0111257, icd11.foundation:2074850874, OMIM:231950, Orphanet:33573] +synonym: "GTG deficiency" RELATED [] synonym: "inborn error of glutathione hydrolase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glutathione hydrolase activity disorder" EXACT [] synonym: "rare inborn error of glutathione hydrolase activity" EXACT [MONDO:patterns/inborn_metabolic] @@ -198558,28 +198588,28 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "G6P deficiency type 1a" EXACT [Orphanet:79258] synonym: "G6PC glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "glucose-6-phosphatase deficiency" RELATED [OMIM:232200] +synonym: "glucose-6-phosphatase deficiency" RELATED [] synonym: "glucose-6-phosphatase deficiency glycogen storage disease" RELATED [GARD:0007864] -synonym: "glycogen storage disease 1" RELATED [OMIM:232200] +synonym: "glycogen storage disease 1" RELATED [] synonym: "glycogen storage disease 1A" RELATED [GARD:0007864] synonym: "glycogen storage disease caused by mutation in G6PC" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to G6P deficiency type Ia" EXACT [Orphanet:79258] -synonym: "glycogen storage disease Ia" RELATED [MONDO:Lexical, OMIM:232200] +synonym: "glycogen storage disease Ia" RELATED [MONDO:Lexical] synonym: "glycogen storage disease type 1a" EXACT [Orphanet:79258] -synonym: "glycogen storage disease type Ia" EXACT [MONDORULE:5, OMIM:232200] +synonym: "glycogen storage disease type Ia" EXACT [MONDORULE:5] synonym: "glycogenosis due to glucose-6-phosphatase deficiency type 1a" EXACT [Orphanet:79258] synonym: "glycogenosis due to glucose-6-phosphatase deficiency type Ia" EXACT [Orphanet:79258] synonym: "glycogenosis type Ia" EXACT [Orphanet:79258] synonym: "GSD due to G6P deficiency type 1a" EXACT [Orphanet:79258] synonym: "GSD due to G6P deficiency type Ia" EXACT [Orphanet:79258] -synonym: "GSD Ia" RELATED [OMIM:232200] +synonym: "GSD Ia" RELATED [] synonym: "GSD type 1a" EXACT [Orphanet:79258] synonym: "GSD1" RELATED ABBREVIATION [GARD:0007864] -synonym: "GSD1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232200] +synonym: "GSD1A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "GSDIa" EXACT [Orphanet:79258] -synonym: "hepatorenal form of glycogen storage disease" RELATED [OMIM:232200] -synonym: "hepatorenal glycogenosis" RELATED [OMIM:232200] -synonym: "Von Gierke disease" RELATED [OMIM:232200] +synonym: "hepatorenal form of glycogen storage disease" RELATED [] +synonym: "hepatorenal glycogenosis" RELATED [] +synonym: "Von Gierke disease" RELATED [] xref: DOID:2749 {source="MONDO:equivalentTo"} xref: GARD:7864 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:79258/attributed", source="Orphanet:79258/ntbt", source="Orphanet:79258"} @@ -198614,12 +198644,12 @@ synonym: "G6P translocase deficiency" EXACT [Orphanet:79259] synonym: "G6PT deficiency" EXACT [Orphanet:79259] synonym: "glucose-6-phosphate transport defect" EXACT [OMIM:232220] synonym: "glycogen storage disease due to G6P deficiency type IB" EXACT [Orphanet:79259] -synonym: "glycogen storage disease Ib" EXACT [MONDO:Lexical, OMIM:232220] -synonym: "glycogen storage disease Ic" EXACT [OMIM:232240] +synonym: "glycogen storage disease Ib" EXACT [DOID:0081330, MONDO:Lexical, OMIM:232220] +synonym: "glycogen storage disease Ic" EXACT [DOID:0081331, OMIM:232240] synonym: "glycogen storage disease type 1b" EXACT [Orphanet:79259] synonym: "glycogen storage disease type I non-a" EXACT [NCIT:C122661] -synonym: "glycogen storage disease type IB" EXACT [MONDORULE:5, OMIM:232220, Orphanet:79259] -synonym: "glycogen storage disease type Ic" EXACT [MONDORULE:5, OMIM:232240] +synonym: "glycogen storage disease type IB" EXACT [MONDORULE:5, NCIT:C122661, Orphanet:79259] +synonym: "glycogen storage disease type Ic" EXACT [MONDORULE:5] synonym: "glycogenosis due to glucose-6-phosphatase deficiency type 1B" EXACT [Orphanet:79259] synonym: "glycogenosis due to glucose-6-phosphatase transport defect type IB" EXACT [Orphanet:79259] synonym: "glycogenosis type 1b" EXACT [Orphanet:79259] @@ -198627,13 +198657,13 @@ synonym: "glycogenosis type IB" EXACT [Orphanet:79259] synonym: "GSD due to G6P deficiency type IB" EXACT [Orphanet:79259] synonym: "GSD due to G6PT deficiency" EXACT [Orphanet:79259] synonym: "GSD Ib" EXACT [OMIM:232220] -synonym: "GSD Ic" RELATED [OMIM:232240] +synonym: "GSD Ic" RELATED [] synonym: "GSD type 1 non a" EXACT [Orphanet:79259] synonym: "GSD type 1b" EXACT [Orphanet:79259] synonym: "GSD type IB" EXACT [Orphanet:79259] synonym: "GSD1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:232220] -synonym: "GSD1C" RELATED ABBREVIATION [OMIM:232240] -synonym: "Gsd1C" RELATED [OMIM:232240] +synonym: "GSD1C" RELATED ABBREVIATION [] +synonym: "Gsd1C" RELATED [] synonym: "GSDIb" EXACT [Orphanet:79259] xref: DOID:0081330 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0081331 {source="MONDO:equivalentTo"} @@ -198682,37 +198712,37 @@ synonym: "acid maltase deficiency" EXACT [DOID:2752, OMIM:232300] synonym: "acid maltase deficiency disease" RELATED [GARD:0005714] synonym: "Aglucosidase alfa" RELATED [GARD:0005714] synonym: "Alpha-1,4-glucosidase acid deficiency" EXACT [Orphanet:365] -synonym: "Alpha-1,4-glucosidase deficiency" RELATED [OMIM:232300] -synonym: "Cardiomegalia Glycogenica diffusa" RELATED [OMIM:232300] +synonym: "Alpha-1,4-glucosidase deficiency" RELATED [] +synonym: "Cardiomegalia Glycogenica diffusa" RELATED [] synonym: "deficiency of alpha-glucosidase" RELATED [GARD:0005714] synonym: "deficiency of glucoamylase" EXACT [DOID:2752] synonym: "deficiency of lysosomal alpha-glucosidase" RELATED [GARD:0005714] synonym: "deficiency of maltase" EXACT [DOID:2752] -synonym: "GAA deficiency" RELATED [OMIM:232300] +synonym: "GAA deficiency" RELATED [] synonym: "GAA glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "generalised glycogenosis" EXACT OMO:0003005 [] synonym: "generalized glycogenosis" EXACT [DOID:2752] synonym: "glucosidase acid-1,4-alpha deficiency" RELATED [GARD:0002503] -synonym: "glycogen storage disease 2" RELATED [OMIM:232300] +synonym: "glycogen storage disease 2" RELATED [] synonym: "glycogen storage disease caused by mutation in GAA" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease due to acid maltase deficiency" RELATED [Orphanet:365] -synonym: "glycogen storage disease II" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:232300] -synonym: "glycogen storage disease type 2" EXACT [MONDORULE:1, OMIM:232300, Orphanet:365] -synonym: "glycogen storage disease type II" EXACT [DOID:2752, MONDORULE:3, Orphanet:365] +synonym: "glycogen storage disease due to acid maltase deficiency" RELATED [] +synonym: "glycogen storage disease II" EXACT CLINGEN_LABEL [DOID:2752, MONDO:Lexical] +synonym: "glycogen storage disease type 2" EXACT [MONDORULE:1, Orphanet:365] +synonym: "glycogen storage disease type II" EXACT [DOID:2752, MONDORULE:3, NCIT:C84734, Orphanet:365] synonym: "glycogen storage disease, type II" EXACT [DOID:2752] synonym: "glycogenosis due to acid maltase deficiency" EXACT [Orphanet:365] synonym: "glycogenosis type 2" EXACT [Orphanet:365] synonym: "glycogenosis type II" EXACT [Orphanet:365] -synonym: "glycogenosis, generalized, Cardiac form" RELATED [OMIM:232300] +synonym: "glycogenosis, generalized, Cardiac form" RELATED [] synonym: "glycogenosis, type 2" EXACT [DOID:2752] -synonym: "GSD 2" RELATED [OMIM:232300] +synonym: "GSD 2" RELATED [] synonym: "GSD due to acid maltase deficiency" EXACT [Orphanet:365] synonym: "GSD II" RELATED [GARD:0005714] synonym: "GSD type 2" EXACT [Orphanet:365] synonym: "GSD type II" EXACT [Orphanet:365] -synonym: "GSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232300] +synonym: "GSD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "lysosomal alpha-1,4-glucosidase deficiency" EXACT [DOID:2752] -synonym: "Pompe Disease" EXACT [NORD:1595] +synonym: "Pompe Disease" EXACT [NORD:1595, OMIM:232300, Orphanet:365] synonym: "Pompe disease" EXACT [OMIM:232300, Orphanet:365] synonym: "Pompe's disease" EXACT [DOID:2752] xref: DOID:2752 {source="MONDO:equivalentTo"} @@ -198757,35 +198787,35 @@ subset: ordo_disorder {source="Orphanet:366"} subset: orphanet_rare {source="Orphanet:366"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Agl deficiency" RELATED [OMIM:232400] +synonym: "Agl deficiency" RELATED [] synonym: "AGL glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "amylo 1,6 glucosidase deficiency" EXACT [DOID:2748] -synonym: "amylo-1,6-glucosidase deficiency" EXACT [Orphanet:366] -synonym: "Cori disease" EXACT [Orphanet:366] +synonym: "amylo-1,6-glucosidase deficiency" EXACT [OMIM:232400, Orphanet:366] +synonym: "Cori disease" EXACT [OMIM:232400, Orphanet:366] synonym: "Cori-Forbes disease" EXACT [Orphanet:366] synonym: "deficiency of debranching enzyme" EXACT [DOID:2748] synonym: "deficiency of dextrin" EXACT [DOID:2748] synonym: "Forbes disease" EXACT [OMIM:232400, Orphanet:366] -synonym: "GDE deficiency" EXACT [Orphanet:366] -synonym: "Gde deficiency" RELATED [OMIM:232400] -synonym: "glycogen Debrancher deficiency" RELATED [OMIM:232400] -synonym: "glycogen storage disease 3" RELATED [OMIM:232400] +synonym: "GDE deficiency" EXACT [OMIM:232400, Orphanet:366] +synonym: "Gde deficiency" RELATED [] +synonym: "glycogen Debrancher deficiency" RELATED [] +synonym: "glycogen storage disease 3" RELATED [] synonym: "glycogen storage disease caused by mutation in AGL" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease due to glycogen debranching enzyme deficiency" RELATED [Orphanet:366] -synonym: "glycogen storage disease III" EXACT [MONDO:Lexical, OMIM:232400] -synonym: "glycogen storage disease IIIa" RELATED [OMIM:232400] -synonym: "glycogen storage disease IIIb" RELATED [OMIM:232400] -synonym: "glycogen storage disease IIIC" RELATED [OMIM:232400] -synonym: "glycogen storage disease IIID" RELATED [OMIM:232400] -synonym: "glycogen storage disease type 3" EXACT [MONDORULE:1, OMIM:232400, Orphanet:366] -synonym: "glycogen storage disease type III" EXACT [DOID:2748, MONDORULE:3, Orphanet:366] +synonym: "glycogen storage disease due to glycogen debranching enzyme deficiency" RELATED [] +synonym: "glycogen storage disease III" EXACT [DOID:2748, MONDO:Lexical] +synonym: "glycogen storage disease IIIa" RELATED [] +synonym: "glycogen storage disease IIIb" RELATED [] +synonym: "glycogen storage disease IIIC" RELATED [] +synonym: "glycogen storage disease IIID" RELATED [] +synonym: "glycogen storage disease type 3" EXACT [MONDORULE:1, Orphanet:366] +synonym: "glycogen storage disease type III" EXACT [MONDORULE:3, NCIT:C84736, Orphanet:366] synonym: "glycogen storage disease, type III" EXACT [DOID:2748] synonym: "glycogenosis due to glycogen debranching enzyme deficiency" EXACT [Orphanet:366] synonym: "glycogenosis type 3" EXACT [Orphanet:366] synonym: "glycogenosis type III" EXACT [Orphanet:366] synonym: "GSD due to glycogen debranching enzyme deficiency" EXACT [Orphanet:366] synonym: "GSD type 3" EXACT [Orphanet:366] -synonym: "GSD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232400] +synonym: "GSD3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "GSDIII" EXACT ABBREVIATION [Orphanet:366] synonym: "limit dextrinosis" EXACT [OMIM:232400, Orphanet:366] xref: DOID:2748 {source="MONDO:equivalentTo"} @@ -198827,37 +198857,37 @@ synonym: "amylopectinosis" EXACT [DOID:2750, OMIM:232500, Orphanet:367] synonym: "Andersen disease" EXACT [OMIM:232500, Orphanet:367] synonym: "Andersen Disease (GSD IV)" EXACT [NORD:770] synonym: "Andersen's disease" EXACT [] -synonym: "brancher deficiency" RELATED [OMIM:232500] +synonym: "brancher deficiency" RELATED [] synonym: "brancher deficiency glycogenosis" EXACT [DOID:2750] synonym: "branching-transferase deficiency glycogenosis" EXACT [DOID:2750] -synonym: "cirrhosis, familial, with deposition of abnormal glycogen" RELATED [OMIM:232500] +synonym: "cirrhosis, familial, with deposition of abnormal glycogen" RELATED [] synonym: "deficiency of 1,4-alpha-glucan branching enzyme" EXACT [DOID:2750] -synonym: "Gbe1 deficiency" RELATED [OMIM:232500] +synonym: "Gbe1 deficiency" RELATED [] synonym: "GBE1 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "glycogen branching enzyme deficiency" RELATED [OMIM:232500] -synonym: "glycogen storage disease 4" RELATED [OMIM:232500] +synonym: "glycogen branching enzyme deficiency" RELATED [] +synonym: "glycogen storage disease 4" RELATED [] synonym: "glycogen storage disease caused by mutation in GBE1" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease due to glycogen branching enzyme deficiency" EXACT CLINGEN_LABEL [] -synonym: "glycogen storage disease IV" RELATED [MONDO:Lexical, OMIM:232500] -synonym: "glycogen storage disease type 4" EXACT [MONDORULE:1, OMIM:232500, Orphanet:367] -synonym: "glycogen storage disease type IV" EXACT [DOID:2750, MONDORULE:3, Orphanet:367] +synonym: "glycogen storage disease due to glycogen branching enzyme deficiency" EXACT CLINGEN_LABEL [Orphanet:367] +synonym: "glycogen storage disease IV" RELATED [MONDO:Lexical] +synonym: "glycogen storage disease type 4" EXACT [MONDORULE:1, Orphanet:367] +synonym: "glycogen storage disease type IV" EXACT [MONDORULE:3, NCIT:C84737, Orphanet:367] synonym: "glycogen storage disease, type IV" EXACT [DOID:2750] -synonym: "glycogenosis 4" RELATED [OMIM:232500] +synonym: "glycogenosis 4" RELATED [] synonym: "glycogenosis due to glycogen branching enzyme deficiency" EXACT [Orphanet:367] synonym: "glycogenosis type 4" EXACT [Orphanet:367] synonym: "glycogenosis type IV" EXACT [Orphanet:367] -synonym: "GSD 4" RELATED [OMIM:232500] +synonym: "GSD 4" RELATED [] synonym: "GSD due to glycogen branching enzyme deficiency" EXACT [Orphanet:367] synonym: "GSD IV" RELATED [GARD:0002520] -synonym: "GSD IV, classic hepatic" RELATED [OMIM:232500] -synonym: "GSD IV, neuromuscular form, adult, with isolated myopathy" RELATED [OMIM:232500] -synonym: "GSD IV, neuromuscular form, childhood" RELATED [OMIM:232500] -synonym: "GSD IV, neuromuscular form, congenital" RELATED [OMIM:232500] -synonym: "GSD IV, neuromuscular form, fatal perinatal" RELATED [OMIM:232500] -synonym: "GSD IV, nonprogressive hepatic" RELATED [OMIM:232500] +synonym: "GSD IV, classic hepatic" RELATED [] +synonym: "GSD IV, neuromuscular form, adult, with isolated myopathy" RELATED [] +synonym: "GSD IV, neuromuscular form, childhood" RELATED [] +synonym: "GSD IV, neuromuscular form, congenital" RELATED [] +synonym: "GSD IV, neuromuscular form, fatal perinatal" RELATED [] +synonym: "GSD IV, nonprogressive hepatic" RELATED [] synonym: "GSD type 4" EXACT [Orphanet:367] synonym: "GSD type IV" EXACT [Orphanet:367] -synonym: "GSD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232500] +synonym: "GSD4" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:2750 {source="MONDO:equivalentTo"} xref: GARD:2520 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:367", source="Orphanet:367/ntbt", source="Orphanet:367/inclusion"} @@ -198896,28 +198926,28 @@ subset: ordo_disorder {source="Orphanet:368"} subset: orphanet_rare {source="Orphanet:368"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glycogen storage disease 5" RELATED [OMIM:232600] +synonym: "glycogen storage disease 5" RELATED [] synonym: "glycogen storage disease caused by mutation in PYGM" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease due to muscle glycogen phosphorylase deficiency" RELATED [Orphanet:368] -synonym: "glycogen storage disease type 5" EXACT [MONDORULE:1, OMIM:232600, Orphanet:368] -synonym: "glycogen storage disease type V" EXACT [DOID:2746, MONDORULE:1, Orphanet:368] -synonym: "glycogen storage disease V" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:232600] +synonym: "glycogen storage disease due to muscle glycogen phosphorylase deficiency" RELATED [] +synonym: "glycogen storage disease type 5" EXACT [MONDORULE:1, Orphanet:368] +synonym: "glycogen storage disease type V" EXACT [DOID:2746, MONDORULE:1, NCIT:C84738, Orphanet:368] +synonym: "glycogen storage disease V" EXACT CLINGEN_LABEL [DOID:2746, MONDO:Lexical] synonym: "glycogen storage disease, type V" EXACT [DOID:2746] synonym: "glycogenosis due to muscle glycogen phosphorylase deficiency" EXACT [Orphanet:368] synonym: "glycogenosis type 5" EXACT [Orphanet:368] synonym: "glycogenosis type V" EXACT [Orphanet:368] -synonym: "GSD 5" RELATED [OMIM:232600] +synonym: "GSD 5" RELATED [] synonym: "GSD due to muscle glycogen phosphorylase deficiency" EXACT [Orphanet:368] synonym: "GSD type 5" EXACT [Orphanet:368] synonym: "GSD type V" EXACT [Orphanet:368] -synonym: "GSD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232600] -synonym: "McArdle disease" EXACT [Orphanet:368] -synonym: "Mcardle disease" EXACT [OMIM:232600] +synonym: "GSD5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "McArdle disease" EXACT [OMIM:232600, Orphanet:368] +synonym: "Mcardle disease" EXACT [OMIM:232600, Orphanet:368] synonym: "McArdle type glycogen storage disease" RELATED [GARD:0006528] synonym: "McArdle's disease" EXACT [DOID:2746] -synonym: "muscle glycogen phosphorylase deficiency" RELATED [OMIM:232600] +synonym: "muscle glycogen phosphorylase deficiency" RELATED [] synonym: "myophosphorylase deficiency" EXACT [DOID:2746, OMIM:232600, Orphanet:368] -synonym: "Pygm deficiency" RELATED [OMIM:232600] +synonym: "Pygm deficiency" RELATED [] synonym: "PYGM glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:2746 {source="MONDO:equivalentTo"} xref: GARD:6528 {source="MONDO:GARD"} @@ -198950,28 +198980,28 @@ subset: ordo_disorder {source="Orphanet:369"} subset: orphanet_rare {source="Orphanet:369"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glycogen storage disease 6" RELATED [GARD:0006529, OMIM:232700] +synonym: "glycogen storage disease 6" RELATED [GARD:0006529] synonym: "glycogen storage disease caused by mutation in PYGL" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease due to liver glycogen phosphorylase deficiency" RELATED [Orphanet:369] -synonym: "glycogen storage disease type 6" EXACT [MONDORULE:1, OMIM:232700, Orphanet:369] -synonym: "Glycogen Storage Disease Type VI" EXACT [NORD:1241] -synonym: "glycogen storage disease type VI" EXACT [DOID:2754, MONDORULE:3, Orphanet:369] -synonym: "glycogen storage disease VI" EXACT [MONDO:Lexical, OMIM:232700] +synonym: "glycogen storage disease due to liver glycogen phosphorylase deficiency" RELATED [] +synonym: "glycogen storage disease type 6" EXACT [MONDORULE:1, Orphanet:369] +synonym: "Glycogen Storage Disease Type VI" EXACT [DOID:2754, NCIT:C126875, NORD:1241, Orphanet:369] +synonym: "glycogen storage disease type VI" EXACT [DOID:2754, MONDORULE:3, NCIT:C126875, Orphanet:369] +synonym: "glycogen storage disease VI" EXACT [DOID:2754, MONDO:Lexical] synonym: "glycogenosis due to liver glycogen phosphorylase deficiency" EXACT [Orphanet:369] synonym: "glycogenosis type 6" EXACT [Orphanet:369] synonym: "glycogenosis type VI" EXACT [Orphanet:369] -synonym: "GSD 6" RELATED [OMIM:232700] +synonym: "GSD 6" RELATED [] synonym: "GSD due to liver glycogen phosphorylase deficiency" EXACT [Orphanet:369] synonym: "GSD type 6" EXACT [Orphanet:369] synonym: "GSD type VI" EXACT [Orphanet:369] -synonym: "GSD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232700] -synonym: "hepatic glycogen phosphorylase deficiency" EXACT [Orphanet:369] +synonym: "GSD6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hepatic glycogen phosphorylase deficiency" EXACT [DOID:2754, Orphanet:369] synonym: "hepatic phosphorylase deficiency" EXACT [Orphanet:369] synonym: "hepatophosphorylase deficiency glycogenosis" EXACT [DOID:2754] synonym: "hers disease" EXACT [OMIM:232700, Orphanet:369] synonym: "hers' disease" EXACT [DOID:2754] synonym: "liver glycogen phosphorylase deficiency" EXACT [Orphanet:369] -synonym: "phosphorylase deficiency glycogen-storage disease of liver" RELATED [OMIM:232700] +synonym: "phosphorylase deficiency glycogen-storage disease of liver" RELATED [] synonym: "PYGL glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:2754 {source="MONDO:equivalentTo"} xref: GARD:6529 {source="MONDO:GARD"} @@ -199006,29 +199036,29 @@ subset: ordo_disorder {source="Orphanet:371"} subset: orphanet_rare {source="Orphanet:371"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glycogen storage disease 7" RELATED [OMIM:232800] +synonym: "glycogen storage disease 7" RELATED [] synonym: "glycogen storage disease caused by mutation in PFKM" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease due to muscle phosphofructokinase deficiency" RELATED [Orphanet:371] -synonym: "Glycogen Storage Disease Type 7" EXACT [NORD:1196] -synonym: "glycogen storage disease type 7" EXACT [MONDORULE:1, OMIM:232800, Orphanet:371] -synonym: "glycogen storage disease type VII" EXACT [DOID:11721, MONDORULE:3, Orphanet:371] -synonym: "glycogen storage disease VII" EXACT [MONDO:Lexical, OMIM:232800] +synonym: "glycogen storage disease due to muscle phosphofructokinase deficiency" RELATED [] +synonym: "Glycogen Storage Disease Type 7" EXACT [NORD:1196, Orphanet:371] +synonym: "glycogen storage disease type 7" EXACT [MONDORULE:1, Orphanet:371] +synonym: "glycogen storage disease type VII" EXACT [DOID:11721, MONDORULE:3, NCIT:C118437, Orphanet:371] +synonym: "glycogen storage disease VII" EXACT [DOID:11721, MONDO:Lexical, NCIT:C118437] synonym: "glycogen storage disease, type VII" EXACT [DOID:11721] synonym: "glycogenosis due to muscle phosphofructokinase deficiency" EXACT [Orphanet:371] synonym: "glycogenosis type 7" EXACT [Orphanet:371] synonym: "glycogenosis type VII" EXACT [Orphanet:371] -synonym: "GSD 7" RELATED [OMIM:232800] +synonym: "GSD 7" RELATED [] synonym: "GSD due to muscle phosphofructokinase deficiency" EXACT [Orphanet:371] synonym: "GSD type 7" EXACT [Orphanet:371] synonym: "GSD type VII" EXACT [Orphanet:371] -synonym: "GSD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:232800] +synonym: "GSD7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "GSDVII" EXACT ABBREVIATION [NCIT:C118437] -synonym: "muscle phosphofructokinase deficiency" RELATED [OMIM:232800] -synonym: "Pfkm deficiency" RELATED [OMIM:232800] +synonym: "muscle phosphofructokinase deficiency" RELATED [] +synonym: "Pfkm deficiency" RELATED [] synonym: "PFKM glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "phosphofructokinase deficiency" EXACT [NCIT:C118437] synonym: "phosphofructokinase myopathy" EXACT [DOID:11721] -synonym: "Tarui disease" EXACT [OMIM:232800, Orphanet:371] +synonym: "Tarui disease" EXACT [NCIT:C118437, OMIM:232800, Orphanet:371] xref: DOID:11721 {source="MONDO:equivalentTo"} xref: GARD:5686 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:371/inclusion", source="Orphanet:371", source="Orphanet:371/ntbt"} @@ -199080,15 +199110,15 @@ subset: ordo_disorder {source="Orphanet:69076"} subset: orphanet_rare {source="Orphanet:69076"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial renal glucosuria" EXACT [Orphanet:69076] -synonym: "glycosuria, renal" RELATED [OMIM:233100] -synonym: "GLYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233100] -synonym: "Glys1" RELATED [OMIM:233100] +synonym: "familial renal glucosuria" EXACT [icd11.foundation:381783069, Orphanet:69076] +synonym: "glycosuria, renal" RELATED [] +synonym: "GLYS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Glys1" RELATED [] synonym: "renal diabetes" EXACT [DOID:9432] -synonym: "renal glucosuria" RELATED [GARD:0007548, MONDO:Lexical, OMIM:233100] -synonym: "Renal Glycosuria" EXACT [NORD:1658] -synonym: "renal glycosuria" RELATED [DOID:9432, GARD:0007548] -synonym: "SGLT2 deficiency" EXACT [Orphanet:69076] +synonym: "renal glucosuria" RELATED [GARD:0007548, MONDO:Lexical] +synonym: "Renal Glycosuria" EXACT [DOID:9432, NORD:1658] +synonym: "renal glycosuria" RELATED [GARD:0007548] +synonym: "SGLT2 deficiency" EXACT [icd11.foundation:381783069, Orphanet:69076] xref: DOID:9432 {source="EFO:1001151", source="MONDO:equivalentTo"} xref: GARD:7548 {source="MONDO:GARD"} xref: ICD10CM:E74.8 {source="Orphanet:69076/inclusion", source="Orphanet:69076", source="DOID:9432", source="Orphanet:69076/ntbt"} @@ -199120,7 +199150,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7548/renal-g id: MONDO:0009298 name: GOMBO syndrome synonym: "GOMBO syndrome" EXACT [OMIM:233270] -synonym: "Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia" RELATED [OMIM:233270] +synonym: "Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia" RELATED [] xref: MEDGEN:343515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537284 {source="MONDO:equivalentTo"} xref: OMIM:233270 {source="MONDO:equivalentTo"} @@ -199138,17 +199168,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:243"} subset: orphanet_rare {source="Orphanet:243"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "46,XX complete gonadal dysgenesis" EXACT [Orphanet:243] -synonym: "46,XX gonadal dysgenesis" EXACT [NCIT:C120197] -synonym: "46,XX ovarian dysgenesis" EXACT [Orphanet:243] -synonym: "46,XX pure gonadal dysgenesis" EXACT [Orphanet:243] -synonym: "follicular stimulating hormone-resistant ovaries" EXACT [Orphanet:243] -synonym: "FSH-RO" EXACT [Orphanet:243] -synonym: "hypergonadotropic ovarian dysgenesis" EXACT [Orphanet:243] -synonym: "ovarian dysgenesis" RELATED [OMIMPS:233300] +synonym: "46,XX complete gonadal dysgenesis" EXACT [icd11.foundation:1742528605, Orphanet:243] +synonym: "46,XX gonadal dysgenesis" EXACT [icd11.foundation:1742528605, NCIT:C120197, Orphanet:243] +synonym: "46,XX ovarian dysgenesis" EXACT [NCIT:C120197, Orphanet:243] +synonym: "46,XX pure gonadal dysgenesis" EXACT [icd11.foundation:1742528605, Orphanet:243] +synonym: "follicular stimulating hormone-resistant ovaries" EXACT [icd11.foundation:1742528605] +synonym: "FSH-RO" EXACT [] +synonym: "hypergonadotropic ovarian dysgenesis" EXACT [icd11.foundation:1742528605, Orphanet:243] +synonym: "ovarian dysgenesis" RELATED [] synonym: "XX female gonadal dysgenesis" EXACT [Orphanet:243] -synonym: "XX gonadal dysgenesis" RELATED [OMIM:233300] -synonym: "XX-GD" EXACT [Orphanet:243] +synonym: "XX gonadal dysgenesis" RELATED [] +synonym: "XX-GD" EXACT ABBREVIATION [Orphanet:243] xref: DOID:14450 {source="MONDO:equivalentTo"} xref: GARD:5671 {source="MONDO:GARD"} xref: ICD10CM:Q99.1 {source="Orphanet:243/e", source="Orphanet:243/specific", source="Orphanet:243"} @@ -199174,13 +199204,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:642945"} subset: rare -synonym: "gonadal dysgenesis, 20 type, with deafness" RELATED [OMIM:233400] +synonym: "gonadal dysgenesis, 20 type, with deafness" RELATED [] synonym: "HSD17B4 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ovarian dysgenesis with sensorineural deafness" RELATED [OMIM:233400] +synonym: "ovarian dysgenesis with sensorineural deafness" RELATED [] synonym: "Perrault syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:233400] synonym: "Perrault syndrome caused by mutation in HSD17B4" EXACT [MONDO:design_pattern] -synonym: "Perrault syndrome type 1" EXACT [MONDORULE:1, OMIM:233400, Orphanet:642945] -synonym: "PRLTS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233400] +synonym: "Perrault syndrome type 1" EXACT [MONDORULE:1, Orphanet:642945] +synonym: "PRLTS1" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:1640257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:233400 {source="MONDO:equivalentTo"} xref: Orphanet:2855 {source="OMIM:233400"} @@ -199198,14 +199228,14 @@ name: 46,XY sex reversal 7 subset: gard_rare {source="GARD:15174", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "46,XY gonadal dysgenesis, partial or complete, Dhh-related" RELATED [OMIM:233420] -synonym: "46,XY SEX reversal 7" RELATED [OMIM:233420] -synonym: "46,XY sex reversal 7" EXACT [MONDO:Lexical, OMIM:233420] -synonym: "46,XY Sex reversal type 7" EXACT [MONDORULE:1, OMIM:233420] -synonym: "46,XY Sex reversal, partial or complete, Dhh-related" RELATED [OMIM:233420] -synonym: "46XY sex reversal 7" EXACT [OMIM:233420, OMIM:genemap2] -synonym: "gonadal dysgenesis, XY, Male-limited" RELATED [OMIM:233420] -synonym: "SRXY7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233420] +synonym: "46,XY gonadal dysgenesis, partial or complete, Dhh-related" RELATED [] +synonym: "46,XY SEX reversal 7" RELATED [] +synonym: "46,XY sex reversal 7" EXACT [DOID:0111774, MONDO:Lexical, OMIM:233420] +synonym: "46,XY Sex reversal type 7" EXACT [MONDORULE:1] +synonym: "46,XY Sex reversal, partial or complete, Dhh-related" RELATED [] +synonym: "46XY sex reversal 7" EXACT [] +synonym: "gonadal dysgenesis, XY, Male-limited" RELATED [] +synonym: "SRXY7" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111774 {source="MONDO:equivalentTo"} xref: GARD:15174 {source="MONDO:GARD"} xref: MEDGEN:383876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -199229,8 +199259,8 @@ subset: orphanet_rare {source="Orphanet:1770"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "gonadal dysgenesis XY type associated anomalies" RELATED [GARD:0002541] -synonym: "gonadal dysgenesis, 10Y type, with associated anomalies" RELATED [OMIM:233430] -synonym: "gonadal dysgenesis, XY type, with associated anomalies" RELATED [OMIM:233430] +synonym: "gonadal dysgenesis, 10Y type, with associated anomalies" RELATED [] +synonym: "gonadal dysgenesis, XY type, with associated anomalies" RELATED [] xref: GARD:2541 {source="MONDO:GARD"} xref: ICD10CM:Q99.1 {source="Orphanet:1770", source="Orphanet:1770/attributed", source="Orphanet:1770/ntbt"} xref: MEDGEN:344696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -199253,11 +199283,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anti-GBM syndrome" EXACT [Orphanet:375] synonym: "anti-glomerular basement membrane antibody disease" RELATED [GARD:0002551] -synonym: "anti-glomerular basement membrane disease" EXACT [DOID:9808] +synonym: "anti-glomerular basement membrane disease" EXACT [DOID:9808, NCIT:C84566, Orphanet:375] synonym: "glomerulonephritis - pulmonary haemorrhage" RELATED OMO:0003005 [] synonym: "glomerulonephritis - pulmonary hemorrhage" RELATED [GARD:0002551] -synonym: "Goodpasture Syndrome" EXACT [NORD:1198] -synonym: "Goodpasture syndrome" EXACT [OMIM:233450, Orphanet:375] +synonym: "Goodpasture Syndrome" EXACT [DOID:9808, icd11.foundation:591736785, NORD:1198, OMIM:233450, Orphanet:375] +synonym: "Goodpasture syndrome" EXACT [DOID:9808, icd11.foundation:591736785, OMIM:233450, Orphanet:375] synonym: "pulmonary renal syndrome" RELATED [GARD:0002551] synonym: "rapidly progressive glomerulonephritis with pulmonary haemorrhage" RELATED OMO:0003005 [] synonym: "rapidly progressive glomerulonephritis with pulmonary hemorrhage" RELATED [GARD:0002551] @@ -199308,7 +199338,7 @@ id: MONDO:0009305 name: granulocytopenia with immunoglobulin abnormality subset: otar {source="MONDO:OTAR"} synonym: "granulocytopenia with immunoglobulin abnormality" EXACT [OMIM:233600] -synonym: "immunodeficiency 59 and hypoglycemia" EXACT [OMIM:233600, OMIM:genemap2] +synonym: "immunodeficiency 59 and hypoglycemia" EXACT [DOID:0111974, OMIM:233600] xref: DOID:0111974 {source="MONDO:equivalentTo"} xref: MEDGEN:383874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565535 {source="MONDO:equivalentTo"} @@ -199326,10 +199356,10 @@ subset: ordo_disorder {source="Orphanet:157949"} subset: orphanet_rare {source="Orphanet:157949"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CCHIDG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233650] -synonym: "CID due to RAG 1/2 deficiency" EXACT [Orphanet:157949] -synonym: "combined cellular and humoral immune defects with granulomas" RELATED [MONDO:Lexical, OMIM:233650] -synonym: "combined immunodeficiency due to RAG 1/2 deficiency" EXACT [Orphanet:157949] +synonym: "CCHIDG" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "CID due to RAG 1/2 deficiency" EXACT [DOID:0112253, Orphanet:157949] +synonym: "combined cellular and humoral immune defects with granulomas" RELATED [MONDO:Lexical] +synonym: "combined immunodeficiency due to RAG 1/2 deficiency" EXACT [DOID:0112253, Orphanet:157949] xref: DOID:0112253 {source="MONDO:equivalentTo"} xref: GARD:13587 {source="MONDO:GARD"} xref: ICD10CM:D81.1 {source="Orphanet:157949/attributed", source="Orphanet:157949/ntbt", source="Orphanet:157949"} @@ -199348,7 +199378,7 @@ id: MONDO:0009307 name: granulomatous disease with defect in neutrophil chemotaxis subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "granulomatous disease with defect in neutrophil chemotaxis" EXACT [OMIM:233670] +synonym: "granulomatous disease with defect in neutrophil chemotaxis" EXACT [] xref: MEDGEN:383873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565534 {source="MONDO:equivalentTo"} xref: OMIM:233670 {source="MONDO:equivalentObsolete"} @@ -199362,10 +199392,10 @@ name: granulomatous disease, chronic, autosomal recessive, cytochrome b-negative subset: gard_rare {source="GARD:15175", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CGD due to deficiency of the Alpha Subunit of cytochrome B" RELATED [OMIM:233690] -synonym: "CGD, autosomal recessive cytochrome B-negative" RELATED [OMIM:233690] -synonym: "chronic granulomatous disease 4, autosomal recessive" EXACT [OMIM:233690, OMIM:genemap2] -synonym: "Cyba deficiency" RELATED [OMIM:233690] +synonym: "CGD due to deficiency of the Alpha Subunit of cytochrome B" RELATED [] +synonym: "CGD, autosomal recessive cytochrome B-negative" RELATED [] +synonym: "chronic granulomatous disease 4, autosomal recessive" EXACT [] +synonym: "Cyba deficiency" RELATED [] synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" EXACT [OMIM:233690] xref: DOID:0070193 {source="MONDO:equivalentTo"} xref: GARD:15175 {source="MONDO:GARD"} @@ -199386,19 +199416,19 @@ def: "Any chronic granulomatous disease in which the cause of the disease is a m subset: gard_rare {source="GARD:15176", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CDG1" RELATED ABBREVIATION [OMIM:233700] -synonym: "CGD, autosomal recessive cytochrome B-positive, type 1" RELATED [OMIM:233700] -synonym: "chronic granulomatous disease 1, autosomal recessive" EXACT [OMIM:233700, OMIM:genemap2] +synonym: "CDG1" RELATED ABBREVIATION [] +synonym: "CGD, autosomal recessive cytochrome B-positive, type 1" RELATED [] +synonym: "chronic granulomatous disease 1, autosomal recessive" EXACT [] synonym: "chronic granulomatous disease caused by mutation in NCF1" EXACT [MONDO:design_pattern] -synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1" EXACT CLINGEN_LABEL [] -synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I" RELATED [OMIM:233700] -synonym: "granulomatous disease, chronic, due to Ncf1 deficiency" RELATED [OMIM:233700] +synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1" EXACT CLINGEN_LABEL [OMIM:233700] +synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I" RELATED [] +synonym: "granulomatous disease, chronic, due to Ncf1 deficiency" RELATED [] synonym: "NCF1 chronic granulomatous disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Ncf1, deficiency of" RELATED [OMIM:233700] -synonym: "neutrophil cytosol Factor 1, deficiency of" RELATED [OMIM:233700] -synonym: "p47-PHOX, deficiency of" RELATED [OMIM:233700] -synonym: "Soc2, deficiency of" RELATED [OMIM:233700] -synonym: "soluble oxidase component II, deficiency of" RELATED [OMIM:233700] +synonym: "Ncf1, deficiency of" RELATED [] +synonym: "neutrophil cytosol Factor 1, deficiency of" RELATED [] +synonym: "p47-PHOX, deficiency of" RELATED [] +synonym: "Soc2, deficiency of" RELATED [] +synonym: "soluble oxidase component II, deficiency of" RELATED [] xref: DOID:0070192 {source="MONDO:equivalentTo"} xref: GARD:15176 {source="MONDO:GARD"} xref: MEDGEN:341102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -199420,17 +199450,17 @@ def: "Any chronic granulomatous disease in which the cause of the disease is a m subset: gard_rare {source="GARD:15177", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CDG2" RELATED ABBREVIATION [OMIM:233710] -synonym: "CGD, autosomal recessive cytochrome B-positive, type 2" RELATED [OMIM:233710] -synonym: "chronic granulomatous disease 2, autosomal recessive" EXACT [OMIM:233710, OMIM:genemap2] +synonym: "CDG2" RELATED ABBREVIATION [] +synonym: "CGD, autosomal recessive cytochrome B-positive, type 2" RELATED [] +synonym: "chronic granulomatous disease 2, autosomal recessive" EXACT [] synonym: "chronic granulomatous disease caused by mutation in NCF2" EXACT [MONDO:design_pattern] -synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2" EXACT CLINGEN_LABEL [] -synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II" RELATED [OMIM:233710] -synonym: "granulomatous disease, chronic, due to Ncf2 deficiency" RELATED [OMIM:233710] +synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2" EXACT CLINGEN_LABEL [OMIM:233710] +synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II" RELATED [] +synonym: "granulomatous disease, chronic, due to Ncf2 deficiency" RELATED [] synonym: "NCF2 chronic granulomatous disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Ncf2, deficiency of" RELATED [OMIM:233710] -synonym: "neutrophil cytosol Factor 2, deficiency of" RELATED [OMIM:233710] -synonym: "P67-PHOX, deficiency of" RELATED [OMIM:233710] +synonym: "Ncf2, deficiency of" RELATED [] +synonym: "neutrophil cytosol Factor 2, deficiency of" RELATED [] +synonym: "P67-PHOX, deficiency of" RELATED [] xref: DOID:0070191 {source="MONDO:equivalentTo"} xref: GARD:15177 {source="MONDO:GARD"} xref: MEDGEN:383869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -199448,8 +199478,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009311 name: grouped pigmentation of the retina -synonym: "grouped pigmentation of retinal pigment epithelium" RELATED [OMIM:233800] -synonym: "grouped pigmentation of the macula" RELATED [OMIM:233800] +synonym: "grouped pigmentation of retinal pigment epithelium" RELATED [] +synonym: "grouped pigmentation of the macula" RELATED [] synonym: "grouped pigmentation of the retina" EXACT [OMIM:233800] xref: MEDGEN:341100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565530 {source="MONDO:equivalentTo"} @@ -199467,15 +199497,15 @@ subset: ordo_disorder {source="Orphanet:1979"} subset: orphanet_rare {source="Orphanet:1979"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency" EXACT [Orphanet:1979] -synonym: "growth factors, combined defect OF" RELATED [OMIM:233805] +synonym: "combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency" EXACT [icd11.foundation:1235390174, Orphanet:1979] +synonym: "growth factors, combined defect OF" RELATED [] synonym: "Hoepffner Dreyer Reimers syndrome" RELATED [GARD:0004280] -synonym: "Hoepffner-Dreyer-Reimers syndrome" EXACT [Orphanet:1979] -synonym: "insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency" RELATED [OMIM:233805] +synonym: "Hoepffner-Dreyer-Reimers syndrome" EXACT [icd11.foundation:1235390174, Orphanet:1979] +synonym: "insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency" RELATED [] synonym: "peptide growth factors deficiency" RELATED [GARD:0004280] synonym: "peptidic growth factors deficiency" RELATED [GARD:0004280] -synonym: "Werner-like syndrome due to combined Growth Factor deficiency" RELATED [OMIM:233805] -synonym: "Werner-like syndrome due to combined growth factor deficiency" EXACT [Orphanet:1979] +synonym: "Werner-like syndrome due to combined Growth Factor deficiency" RELATED [] +synonym: "Werner-like syndrome due to combined growth factor deficiency" EXACT [icd11.foundation:1235390174, OMIM:233805, Orphanet:1979] xref: GARD:12604 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="Orphanet:1979/attributed", source="Orphanet:1979/ntbt", source="Orphanet:1979"} xref: icd11.foundation:1235390174 {source="MONDO:equivalentTo"} @@ -199499,7 +199529,7 @@ subset: orphanet_rare {source="Orphanet:2101"} subset: rare synonym: "developmental delay - hypotonia - extremities hypertrophy" RELATED [GARD:0002576] synonym: "developmental delay-hypotonia-extremities hypertrophy syndrome" EXACT [Orphanet:2101] -synonym: "growth retardation, small and puffy hands and feet, and eczema" RELATED [OMIM:233810] +synonym: "growth retardation, small and puffy hands and feet, and eczema" RELATED [] synonym: "Grubben de Cock Borghgraef syndrome" RELATED [GARD:0002576] synonym: "severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin" RELATED [GARD:0002576] xref: GARD:2576 {source="MONDO:GARD"} @@ -199534,16 +199564,16 @@ subset: orphanet_rare {source="Orphanet:330"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "coagulation factor 12 deficiency" RELATED [GARD:0006558] -synonym: "congenital factor XII deficiency" EXACT CLINGEN_LABEL [] +synonym: "congenital factor XII deficiency" EXACT CLINGEN_LABEL [Orphanet:330] synonym: "congenital Hageman factor deficiency" EXACT [Orphanet:330] synonym: "deficiency, Hageman" EXACT [DOID:2231] -synonym: "F12 deficiency" RELATED [OMIM:234000] +synonym: "F12 deficiency" RELATED [] synonym: "factor 12 deficiency" RELATED [GARD:0006558] -synonym: "Factor XII Deficiency" EXACT [NORD:1119] -synonym: "factor XII deficiency" RELATED [OMIM:234000] +synonym: "Factor XII Deficiency" EXACT [DOID:2231, NCIT:C131740, NORD:1119] +synonym: "factor XII deficiency" RELATED [] synonym: "factor XII deficiency disease" EXACT [DOID:2231] -synonym: "Haf deficiency" RELATED [OMIM:234000] -synonym: "Hageman Factor deficiency" EXACT [DOID:2231, NCIT:C26770, OMIM:234000] +synonym: "Haf deficiency" RELATED [] +synonym: "Hageman Factor deficiency" EXACT [DOID:2231, OMIM:234000] xref: DOID:2231 {source="MONDO:equivalentTo"} xref: GARD:6558 {source="MONDO:GARD"} xref: ICD10CM:D68.2 {source="Orphanet:330/attributed", source="Orphanet:330/ntbt", source="Orphanet:330"} @@ -199598,16 +199628,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:2108"} subset: orphanet_rare {source="Orphanet:2108"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FranC'ois dyscephalic syndrome" EXACT [Orphanet:2108] +synonym: "FranC'ois dyscephalic syndrome" EXACT [] synonym: "Francois dyscephalic syndrome" EXACT [DOID:4534, OMIM:234100] synonym: "François dyscephalic syndrome" EXACT [Orphanet:2108] synonym: "Hallerman - Streiff syndrome" EXACT [DOID:4534] synonym: "Hallermann Streiff Francois syndrome" RELATED [GARD:0000288] synonym: "Hallermann Streiff syndrome" RELATED [GARD:0000288] synonym: "Hallermann syndrome" EXACT [NCIT:C84746] -synonym: "Hallermann's syndrome" EXACT [DOID:4534] -synonym: "Hallermann-Streiff syndrome" EXACT [MONDO:Lexical, OMIM:234100] -synonym: "HSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234100] +synonym: "Hallermann's syndrome" EXACT [DOID:4534, NCIT:C84746] +synonym: "Hallermann-Streiff syndrome" EXACT [DOID:4534, MONDO:Lexical, NCIT:C84746, OMIM:234100, Orphanet:2108] +synonym: "HSS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "oculomandibulofacial syndrome" EXACT [Orphanet:2108] xref: DOID:4534 {source="MONDO:equivalentTo"} xref: GARD:288 {source="MONDO:GARD"} @@ -199647,17 +199677,17 @@ subset: ordo_disorder {source="Orphanet:157850"} subset: orphanet_rare {source="Orphanet:157850"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brain iron accumulation type I syndrome" BROAD [DOID:3981, NCIT:C8967] +synonym: "brain iron accumulation type I syndrome" BROAD [] synonym: "Hallervorden-Spatz disease" EXACT DEPRECATED [DOID:3981, OMIM:234200] synonym: "Hallervorden-Spatz syndrome" EXACT DEPRECATED [DOID:3981, Orphanet:157850] synonym: "NBIA1" EXACT ABBREVIATION [DOID:3981, MONDO:Lexical, OMIM:234200, Orphanet:157850] synonym: "neuroaxonal dystrophy, late infantile" RELATED [GARD:0006564] synonym: "neurodegeneration with brain iron accumulation 1" EXACT [DOID:3981, MONDO:Lexical, OMIM:234200] -synonym: "neurodegeneration with brain iron accumulation type 1" EXACT [MONDORULE:1, OMIM:234200, Orphanet:157850] -synonym: "pantothenate kinase-associated neurodegeneration" EXACT [OMIM:234200] +synonym: "neurodegeneration with brain iron accumulation type 1" EXACT [MONDORULE:1, Orphanet:157850] +synonym: "pantothenate kinase-associated neurodegeneration" EXACT [DOID:3981, NCIT:C84988, OMIM:234200, Orphanet:157850] synonym: "pigmentary pallidal degeneration" EXACT [DOID:3981] synonym: "PKAN" EXACT ABBREVIATION [Orphanet:157850] -synonym: "Pkan neuroaxonal dystrophy, juvenile-onset" RELATED [OMIM:234200] +synonym: "Pkan neuroaxonal dystrophy, juvenile-onset" RELATED [] xref: DOID:3981 {source="MONDO:equivalentTo"} xref: GARD:6564 {source="MONDO:GARD"} xref: ICD10CM:G23.0 {source="DOID:3981", source="Orphanet:157850", source="Orphanet:157850/e", source="Orphanet:157850/specific"} @@ -199691,8 +199721,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Hall Riggs intellectual disability syndrome" RELATED [GARD:0002586] synonym: "Hall Riggs mental retardation syndrome" RELATED DEPRECATED [GARD:0002586] -synonym: "HALL-Riggs intellectual disability syndrome" RELATED [OMIM:234250] -synonym: "HALL-Riggs mental retardation syndrome" RELATED DEPRECATED [OMIM:234250] +synonym: "HALL-Riggs intellectual disability syndrome" RELATED [] +synonym: "HALL-Riggs mental retardation syndrome" RELATED DEPRECATED [] xref: GARD:2586 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2107", source="Orphanet:2107/attributed", source="Orphanet:2107/ntbt"} xref: MEDGEN:341089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -199715,7 +199745,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2110"} subset: orphanet_rare {source="Orphanet:2110"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hallux varus and preaxial polysyndactyly" RELATED [OMIM:234280] +synonym: "hallux varus and preaxial polysyndactyly" RELATED [] synonym: "Kleiner Holmes syndrome" RELATED [GARD:0003118] synonym: "Kleiner-Holmes syndrome" EXACT [Orphanet:2110] xref: GARD:3118 {source="MONDO:GARD"} @@ -199760,10 +199790,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aminoaciduria, Hartnup type" EXACT [Orphanet:2116] synonym: "deficiency of tryptophan oxygenase" EXACT [DOID:1060] -synonym: "Hartnup disease" EXACT CLINGEN_LABEL [OMIM:234500] +synonym: "Hartnup disease" EXACT CLINGEN_LABEL [DOID:1060, NCIT:C84748, OMIM:234500, Orphanet:2116] synonym: "Hartnup disorder" EXACT [MONDO:Lexical, OMIM:234500, Orphanet:2116] -synonym: "HND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234500] -synonym: "neutral 1 amino acid transport defect" EXACT [] +synonym: "HND" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "neutral 1 amino acid transport defect" EXACT [DOID:1060] synonym: "neutral amino acid transport defect" EXACT [DOID:1060] xref: DOID:1060 {source="MONDO:equivalentTo"} xref: GARD:6569 {source="MONDO:GARD"} @@ -199813,7 +199843,7 @@ subset: orphanet_rare {source="Orphanet:60041"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital atrioventricular block" EXACT [Orphanet:60041] -synonym: "heart block, congenital" RELATED [GARD:0006164, OMIM:234700] +synonym: "heart block, congenital" RELATED [GARD:0006164] xref: DOID:990 {source="MONDO:equivalentTo"} xref: GARD:6164 {source="MONDO:GARD"} xref: ICD10CM:Q24.6 {source="Orphanet:60041/specific", source="Orphanet:60041/e", source="MONDO:equivalentTo", source="DOID:990", source="Orphanet:60041"} @@ -199871,10 +199901,10 @@ subset: orphanet_rare {source="Orphanet:199241"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial pulmonary capillary hemangiomatosis" RELATED [GARD:0008527] -synonym: "hemangiomatosis, familial pulmonary capillary" RELATED [OMIM:234810] -synonym: "pulmonary capillary hemangiomatosis" BROAD [Orphanet:199241] -synonym: "pulmonary venoocclusive disease 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:234810] -synonym: "PVOD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:234810] +synonym: "hemangiomatosis, familial pulmonary capillary" RELATED [] +synonym: "pulmonary capillary hemangiomatosis" BROAD [] +synonym: "pulmonary venoocclusive disease 2, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "PVOD2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081269 {source="MONDO:equivalentTo"} xref: GARD:15027 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:199241", source="Orphanet:199241/attributed", source="Orphanet:199241/ntbt"} @@ -199899,7 +199929,7 @@ subset: gard_rare {source="GARD:2627", source="MONDO:GARD"} subset: rare synonym: "hemangiopericytoma, malignant" EXACT [NCIT:C4301, OMIM:234820] synonym: "malignant hemangiopericytoma" EXACT [NCIT:C4301] -synonym: "malignant hemangiopericytoma NOS" RELATED EXCLUDE [NCIT:C4301] +synonym: "malignant hemangiopericytoma NOS" RELATED EXCLUDE [] xref: GARD:2627 {source="MONDO:GARD"} xref: ICDO:9150/3 {source="NCIT:C4301"} xref: MEDGEN:90803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -199923,13 +199953,13 @@ subset: orphanet_rare {source="Orphanet:2128"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hemi 3 syndrome" EXACT [Orphanet:2128] -synonym: "hemi-3 syndrome" RELATED [OMIM:235000] +synonym: "hemi-3 syndrome" RELATED [] synonym: "Hemicorporal hypertrophy" EXACT [Orphanet:2128] -synonym: "hemihyperplasia" RELATED [OMIM:235000] -synonym: "hemihyperplasia, isolated" RELATED [MONDO:Lexical, OMIM:235000] -synonym: "hemihypertrophy" EXACT [OMIM:235000, OMIM:genemap2] -synonym: "hemihypertrophy, isolated" RELATED [OMIM:235000] -synonym: "IH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235000] +synonym: "hemihyperplasia" RELATED [] +synonym: "hemihyperplasia, isolated" RELATED [MONDO:Lexical] +synonym: "hemihypertrophy" EXACT [] +synonym: "hemihypertrophy, isolated" RELATED [] +synonym: "IH" RELATED ABBREVIATION [MONDO:Lexical] synonym: "isolated hemihypertrophy" EXACT [Orphanet:2128] xref: GARD:2630 {source="MONDO:GARD"} xref: ICD10CM:Q87.3 {source="Orphanet:2128", source="Orphanet:2128/attributed", source="Orphanet:2128/ntbt"} @@ -199971,11 +200001,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1655"} subset: orphanet_rare {source="Orphanet:1655"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly" RELATED [OMIM:235255] -synonym: "Müllerian derivatives-lymphangiectasia-polydactyly syndrome" RELATED [Orphanet:1655] +synonym: "MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly" RELATED [] +synonym: "Müllerian derivatives-lymphangiectasia-polydactyly syndrome" RELATED [] synonym: "persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly" RELATED [GARD:0005430] synonym: "renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly" RELATED [GARD:0005430] -synonym: "Urioste syndrome" RELATED [OMIM:235255] +synonym: "Urioste syndrome" RELATED [] xref: GARD:5430 {source="MONDO:GARD"} xref: MEDGEN:343489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536478 {source="MONDO:equivalentTo"} @@ -200004,13 +200034,13 @@ is_a: MONDO:0017319 {source="Orphanet:288/btnt"} ! hereditary elliptocytosis id: MONDO:0009335 name: hemolytic uremic syndrome, atypical, susceptibility to, 1 subset: predisposition -synonym: "Ahus, susceptibility to, 1" RELATED [OMIM:235400] -synonym: "AHUS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235400] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to" EXACT [OMIM:235400, OMIM:genemap2] +synonym: "Ahus, susceptibility to, 1" RELATED [] +synonym: "AHUS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to" EXACT [] synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:235400] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:235400] -synonym: "hemolytic uremic syndrome, typical" RELATED [OMIM:235400] -synonym: "susceptibility to atypical hemolytic uremic syndrome 1" RELATED [OMIM:235400] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "hemolytic uremic syndrome, typical" RELATED [] +synonym: "susceptibility to atypical hemolytic uremic syndrome 1" RELATED [] xref: MEDGEN:412743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:235400 {source="MONDO:equivalentTo"} xref: Orphanet:2134 {source="OMIM:235400"} @@ -200041,13 +200071,13 @@ subset: gard_rare {source="GARD:15181", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CCBE1 Hennekam syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Hennekam lymphangiectasia-lymphedema syndrome" RELATED [OMIM:235510] +synonym: "Hennekam lymphangiectasia-lymphedema syndrome" RELATED [] synonym: "Hennekam lymphangiectasia-lymphedema syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:235510] -synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 1" EXACT [MONDORULE:1, OMIM:235510] +synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 1" EXACT [MONDORULE:1] synonym: "Hennekam syndrome caused by mutation in CCBE1" EXACT [MONDO:design_pattern] -synonym: "HKLLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235510] +synonym: "HKLLS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "lymphatic dysplasia, generalised" RELATED OMO:0003005 [] -synonym: "lymphatic dysplasia, generalized" RELATED [OMIM:235510] +synonym: "lymphatic dysplasia, generalized" RELATED [] xref: GARD:15181 {source="MONDO:GARD"} xref: MEDGEN:860487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:235510 {source="MONDO:equivalentTo"} @@ -200070,9 +200100,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial veno-occlusive disease with immunodeficiency" RELATED [MESH:C537257] synonym: "hepatic veno-occlusive disease with immunodeficiency" RELATED [MESH:C537257] -synonym: "hepatic venoocclusive disease with immunodeficiency" RELATED [MONDO:Lexical, OMIM:235550] +synonym: "hepatic venoocclusive disease with immunodeficiency" RELATED [MONDO:Lexical] synonym: "veno-occlusive disease and immunodeficiency syndrome" RELATED [MESH:C537257] -synonym: "VODI" RELATED ABBREVIATION [GARD:0010083, MESH:C537257, MONDO:Lexical, OMIM:235550] +synonym: "VODI" RELATED ABBREVIATION [GARD:0010083, MESH:C537257, MONDO:Lexical] synonym: "VODI syndrome" EXACT [Orphanet:79124] xref: DOID:0112254 {source="MONDO:equivalentTo"} xref: GARD:10083 {source="MONDO:GARD"} @@ -200108,13 +200138,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AKR1D1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "BASD2" EXACT ABBREVIATION [Orphanet:79303] -synonym: "bile acid synthesis defect, congenital, 2" RELATED [MONDO:Lexical, OMIM:235555] -synonym: "bile acid synthesis defect, congenital, type 2" EXACT [MONDORULE:1, OMIM:235555] +synonym: "bile acid synthesis defect, congenital, 2" RELATED [MONDO:Lexical] +synonym: "bile acid synthesis defect, congenital, type 2" EXACT [MONDORULE:1] synonym: "CBAS2" EXACT ABBREVIATION [DOID:0111069, MONDO:Lexical, OMIM:235555] -synonym: "cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency" RELATED [OMIM:235555] -synonym: "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" EXACT [DOID:0111069, Orphanet:79303] +synonym: "cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency" RELATED [] +synonym: "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" EXACT [DOID:0111069, OMIM:235555, Orphanet:79303] synonym: "congenital bile acid synthesis defect caused by mutation in AKR1D1" EXACT [MONDO:design_pattern] -synonym: "congenital bile acid synthesis defect type 2" EXACT [DOID:0111069, MONDORULE:1] +synonym: "congenital bile acid synthesis defect type 2" EXACT [MONDORULE:1, Orphanet:79303] synonym: "congenital bile acid synthesis defect, type 2" RELATED [GARD:0010045] xref: DOID:0111069 {source="MONDO:equivalentTo"} xref: GARD:10045 {source="MONDO:GARD"} @@ -200142,8 +200172,8 @@ subset: orphanet_rare {source="Orphanet:90031"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hemolytic anaemia due to hexokinase deficiency" EXACT OMO:0003005 [] -synonym: "hemolytic anemia due to hexokinase deficiency" EXACT [OMIM:235700, OMIM:genemap2] -synonym: "hemolytic anemia, nonspherocytic, due to hexokinase deficiency" RELATED [OMIM:235700] +synonym: "hemolytic anemia due to hexokinase deficiency" EXACT [] +synonym: "hemolytic anemia, nonspherocytic, due to hexokinase deficiency" RELATED [] synonym: "hexokinase deficiency hemolytic anaemia" RELATED OMO:0003005 [] synonym: "hexokinase deficiency hemolytic anemia" RELATED [GARD:0003672] synonym: "nonspherocytic hemolytic anaemia due to hexokinase deficiency" RELATED OMO:0003005 [] @@ -200175,18 +200205,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:2152"} subset: orphanet_rare {source="Orphanet:2152"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Hirschsprung disease intellectual disability syndrome" EXACT [DOID:0060485] +synonym: "Hirschsprung disease intellectual disability syndrome" EXACT [] synonym: "Hirschsprung disease mental retardation syndrome" EXACT DEPRECATED [DOID:0060485] -synonym: "Hirschsprung disease-intellectual disability syndrome" EXACT [OMIM:235730, Orphanet:2152] -synonym: "Hirschsprung disease-mental retardation syndrome" RELATED DEPRECATED [OMIM:235730] +synonym: "Hirschsprung disease-intellectual disability syndrome" EXACT [Orphanet:2152] +synonym: "Hirschsprung disease-mental retardation syndrome" RELATED DEPRECATED [] synonym: "intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease" RELATED [GARD:0009673] synonym: "mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease" RELATED DEPRECATED [GARD:0009673] -synonym: "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease" EXACT [DOID:0060485] -synonym: "microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease" RELATED [OMIM:235730] +synonym: "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease" EXACT [] +synonym: "microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease" RELATED [] synonym: "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease" EXACT DEPRECATED [DOID:0060485] -synonym: "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease" RELATED DEPRECATED [OMIM:235730] -synonym: "Mowat-Wilson syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:235730] -synonym: "MOWS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:235730] +synonym: "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease" RELATED DEPRECATED [] +synonym: "Mowat-Wilson syndrome" EXACT CLINGEN_LABEL [DOID:0060485, icd11.foundation:1985672762, MONDO:Lexical, NCIT:C74999, OMIM:235730, Orphanet:2152] +synonym: "MOWS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0060485 {source="MONDO:equivalentTo"} xref: GARD:9673 {source="MONDO:GARD"} xref: ICD10CM:Q43.1 {source="Orphanet:2152/attributed", source="Orphanet:2152/ntbt", source="Orphanet:2152"} @@ -200221,9 +200251,9 @@ subset: orphanet_rare {source="Orphanet:2155"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness" NARROW [GARD:0000157] -synonym: "Hirschsprung disease with polydactyly, renal agenesis, and deafness" NARROW [OMIM:235740] +synonym: "Hirschsprung disease with polydactyly, renal agenesis, and deafness" NARROW [] synonym: "Hirschsprung disease, deafness and polydactyly" NARROW [GARD:0000157] -synonym: "Hirschsprung disease-deafness-polydactyly syndrome" NARROW [Orphanet:2155] +synonym: "Hirschsprung disease-deafness-polydactyly syndrome" NARROW [] synonym: "Santos Mateus Leal syndrome" RELATED [GARD:0000157] synonym: "Santos-Mateus-Leal syndrome" EXACT [Orphanet:2155] xref: GARD:157 {source="MONDO:GARD"} @@ -200265,7 +200295,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Al Gazali-Donnai-Muller syndrome" EXACT [Orphanet:2153] synonym: "Al-Gazali-Donnai-Mueller syndrome" RELATED [GARD:0000584] -synonym: "Hirschsprung disease with hypoplastic nails and dysmorphic facial features" RELATED [OMIM:235760] +synonym: "Hirschsprung disease with hypoplastic nails and dysmorphic facial features" RELATED [] synonym: "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features" RELATED [GARD:0000584] xref: GARD:584 {source="MONDO:GARD"} xref: ICD10CM:Q43.1 {source="Orphanet:2153/attributed", source="Orphanet:2153/ntbt", source="Orphanet:2153"} @@ -200291,13 +200321,13 @@ subset: ordo_disorder {source="Orphanet:2157"} subset: orphanet_rare {source="Orphanet:2157"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Hal deficiency" EXACT [Orphanet:2157] -synonym: "HIS deficiency" EXACT [Orphanet:2157] -synonym: "histidase deficiency" EXACT [OMIM:235800, Orphanet:2157] -synonym: "histidine ammonia-lyase deficiency" EXACT [OMIM:235800, Orphanet:2157] -synonym: "histidinemia" EXACT CLINGEN_LABEL [OMIM:235800, OMIM:genemap2] -synonym: "Histidinuria" EXACT [Orphanet:2157] -synonym: "histidinuria" EXACT [DOID:0060168] +synonym: "Hal deficiency" EXACT [OMIM:235800, Orphanet:2157] +synonym: "HIS deficiency" EXACT [OMIM:235800, Orphanet:2157] +synonym: "histidase deficiency" EXACT [icd11.foundation:261052955, OMIM:235800, Orphanet:2157] +synonym: "histidine ammonia-lyase deficiency" EXACT [icd11.foundation:261052955, OMIM:235800, Orphanet:2157] +synonym: "histidinemia" EXACT CLINGEN_LABEL [DOID:0060168, ICD10CM:E70.41, OMIM:235800, Orphanet:2157] +synonym: "Histidinuria" EXACT [DOID:0060168, icd11.foundation:261052955, Orphanet:2157] +synonym: "histidinuria" EXACT [DOID:0060168, icd11.foundation:261052955, Orphanet:2157] synonym: "hyperhistidinemia" EXACT [Orphanet:2157] xref: DOID:0060168 {source="MONDO:equivalentTo"} xref: GARD:6661 {source="MONDO:GARD"} @@ -200345,7 +200375,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009347 name: familial lipochrome histiocytosis -synonym: "histiocytosis, familial lipochrome" RELATED [OMIM:235900] +synonym: "histiocytosis, familial lipochrome" RELATED [] xref: MEDGEN:90743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562738 {source="MONDO:equivalentTo"} xref: OMIM:235900 {source="MONDO:equivalentTo"} @@ -200364,13 +200394,13 @@ subset: ordo_disorder {source="Orphanet:391"} subset: orphanet_rare {source="Orphanet:391"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Chl" RELATED [MONDO:Lexical, OMIM:236000] +synonym: "Chl" RELATED [MONDO:Lexical] synonym: "classic Hodgkin disease" EXACT [Orphanet:391] -synonym: "classical Hodgkin lymphoma" EXACT [NCIT:C7164] -synonym: "classical Hodgkin's lymphoma" EXACT [NCIT:C7164] -synonym: "Hodgkin disease" RELATED [OMIM:236000] -synonym: "Hodgkin lymphoma, susceptibility to" RELATED [OMIM:236000, OMIM:genemap2] -synonym: "lymphoma, Hodgkin, classic" RELATED [MONDO:Lexical, OMIM:236000] +synonym: "classical Hodgkin lymphoma" EXACT [icd11.foundation:1616050398, NCIT:C7164] +synonym: "classical Hodgkin's lymphoma" EXACT [] +synonym: "Hodgkin disease" RELATED [] +synonym: "Hodgkin lymphoma, susceptibility to" RELATED [] +synonym: "lymphoma, Hodgkin, classic" RELATED [MONDO:Lexical] xref: GARD:16529 {source="MONDO:GARD"} xref: ICD10CM:C81.0 {source="Orphanet:391", source="Orphanet:391/btnt"} xref: ICD10CM:C81.1 {source="Orphanet:391", source="Orphanet:391/btnt"} @@ -200398,16 +200428,16 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_morphological_anomaly {source="Orphanet:268936"} subset: rare -synonym: "arhinencephaly" RELATED [OMIM:236100] -synonym: "cyclopia" BROAD [OMIM:236100] -synonym: "Demyer sequence" RELATED [OMIM:236100] -synonym: "holoprosencephaly 1" EXACT [MONDO:Lexical, OMIM:236100] -synonym: "holoprosencephaly 1, isolated cases" EXACT [OMIM:236100, OMIM:genemap2] -synonym: "holoprosencephaly type 1" EXACT [DOID:0110881, MONDORULE:1] -synonym: "holoprosencephaly, familial Alobar" RELATED [OMIM:236100] -synonym: "Hpe, familial" BROAD [OMIM:236100] +synonym: "arhinencephaly" RELATED [] +synonym: "cyclopia" BROAD [] +synonym: "Demyer sequence" RELATED [] +synonym: "holoprosencephaly 1" EXACT [DOID:0110881, MONDO:Lexical, NCIT:C75476, OMIM:236100] +synonym: "holoprosencephaly 1, isolated cases" EXACT [] +synonym: "holoprosencephaly type 1" EXACT [MONDORULE:1, NCIT:C75476] +synonym: "holoprosencephaly, familial Alobar" RELATED [] +synonym: "Hpe, familial" BROAD [] synonym: "HPE1" EXACT ABBREVIATION [DOID:0110881, MONDO:Lexical, OMIM:236100] -synonym: "isolated arhinencephaly" RELATED [Orphanet:268936] +synonym: "isolated arhinencephaly" RELATED [] xref: DOID:0110881 {source="MONDO:equivalentTo"} xref: ICD10CM:Q04.1 {source="Orphanet:268936/e", source="Orphanet:268936"} xref: MEDGEN:78617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -200430,7 +200460,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome" EXACT [Orphanet:2167] synonym: "Complex congenital heart defect, renal agenesis and cleft lip and palate" RELATED [GARD:0002728] -synonym: "Holzgreve syndrome" EXACT [DOID:0060566, OMIM:236110] +synonym: "Holzgreve syndrome" EXACT [DOID:0060566, OMIM:236110, Orphanet:2167] synonym: "Holzgreve Wagner Rehder syndrome" EXACT [DOID:0060566] xref: DOID:0060566 {source="MONDO:equivalentTo"} xref: GARD:2728 {source="MONDO:GARD"} @@ -200450,8 +200480,8 @@ def: "Homocarnosinosis is a metabolic defect characterized by progressive spasti subset: gard_rare {source="GARD:2730", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Homocarnosinase deficiency" EXACT [OMIM:236130, Orphanet:2168] -synonym: "homocarnosinosis" EXACT [OMIM:236130] +synonym: "Homocarnosinase deficiency" EXACT [icd11.foundation:166229372, OMIM:236130] +synonym: "homocarnosinosis" EXACT [DOID:0060177, icd11.foundation:166229372, OMIM:236130] xref: DOID:0060177 {source="MONDO:equivalentTo"} xref: GARD:2730 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:2168", source="Orphanet:2168/attributed", source="Orphanet:2168/ntbt"} @@ -200479,16 +200509,16 @@ subset: ordo_disorder {source="Orphanet:394"} subset: orphanet_rare {source="Orphanet:394"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CBS deficiency" RELATED [GARD:0006667, OMIM:236200] +synonym: "CBS deficiency" RELATED [GARD:0006667] synonym: "classic homocystinuria" EXACT CLINGEN_LABEL [] synonym: "cystathionine beta-synthase deficiency" EXACT [GARD:0006667, OMIM:236200, Orphanet:394] synonym: "homocystinuria due to CBS deficiency" RELATED [GARD:0006667] -synonym: "Homocystinuria due to Cystathionine Beta-Synthase Deficiency" EXACT [NORD:1249] +synonym: "Homocystinuria due to Cystathionine Beta-Synthase Deficiency" EXACT [NORD:1249, OMIM:236200, Orphanet:394] synonym: "homocystinuria due to cystathionine beta-synthase deficiency" EXACT [GARD:0006667, OMIM:236200, Orphanet:394] -synonym: "homocystinuria with or without response to pyridoxine" RELATED [OMIM:236200] -synonym: "homocystinuria, B6-responsive and nonresponsive types" EXACT [OMIM:236200, OMIM:genemap2] -synonym: "hyperhomocysteinemia, thrombotic, CBS-related" RELATED [OMIM:236200] -synonym: "thrombosis, hyperhomocysteinemic" EXACT [OMIM:236200, OMIM:genemap2] +synonym: "homocystinuria with or without response to pyridoxine" RELATED [] +synonym: "homocystinuria, B6-responsive and nonresponsive types" EXACT [] +synonym: "hyperhomocysteinemia, thrombotic, CBS-related" RELATED [] +synonym: "thrombosis, hyperhomocysteinemic" EXACT [] xref: GARD:6667 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:394/inclusion", source="Orphanet:394/ntbt", source="Orphanet:394"} xref: MedDRA:10071093 {source="Orphanet:394/e", source="Orphanet:394"} @@ -200524,14 +200554,14 @@ synonym: "5,10 alpha methylenetetrahydro-folate reductase deficiency" RELATED [G synonym: "5,10-alpha-methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734] synonym: "Homocysteinemia due to methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734] synonym: "Homocysteinuria due to methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734] -synonym: "homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity" RELATED [OMIM:236250] -synonym: "homocystinuria due to methylene tetrahydrofolate reductase deficiency" EXACT CLINGEN_LABEL [] +synonym: "homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity" RELATED [] +synonym: "homocystinuria due to methylene tetrahydrofolate reductase deficiency" EXACT CLINGEN_LABEL [Orphanet:395] synonym: "homocystinuria due to MTHFR deficiency" RELATED [GARD:0002734] synonym: "methylene tetrahydrofolate reductase deficiency" EXACT [Orphanet:395] synonym: "Methylenetetrahydro-folate reductase deficiency" RELATED [GARD:0002734] -synonym: "methylenetetrahydrofolate reductase deficiency" RELATED [OMIM:236250] +synonym: "methylenetetrahydrofolate reductase deficiency" RELATED [] synonym: "MTHFR deficiency" EXACT [OMIM:236250, Orphanet:395] -synonym: "MTHFR deficiency, thermolabile type" RELATED [OMIM:236250] +synonym: "MTHFR deficiency, thermolabile type" RELATED [] xref: GARD:2734 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:395/inclusion", source="Orphanet:395", source="Orphanet:395/ntbt"} xref: MEDGEN:343470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -200557,17 +200587,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:2169"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "functional methionine synthase deficiency type cblE" EXACT [Orphanet:2169] -synonym: "HMAE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236270] +synonym: "functional methionine synthase deficiency type cblE" EXACT [DOID:0112255, Orphanet:2169] +synonym: "HMAE" RELATED ABBREVIATION [MONDO:Lexical] synonym: "homocystinuria due to defect in methylation Cbl e" RELATED [GARD:0002732] synonym: "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation type" RELATED OMO:0003005 [] -synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type" RELATED [OMIM:236270] -synonym: "homocystinuria-megaloblastic anemia, cbl e type" EXACT [OMIM:236270, OMIM:genemap2] -synonym: "homocystinuria-megaloblastic anemia, cblE complementation type" RELATED [MONDO:Lexical, OMIM:236270] -synonym: "methylcobalamin deficiency type cblE" EXACT CLINGEN_LABEL [] -synonym: "methylcobalamin deficiency, cblE type" RELATED [OMIM:236270] -synonym: "methylmalonic aciduria and homocystinuria type cblE" RELATED [DOID:0050732] -synonym: "vitamin B12-responsive homocystinuria, cblE type" RELATED [OMIM:236270] +synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type" RELATED [] +synonym: "homocystinuria-megaloblastic anemia, cbl e type" EXACT [] +synonym: "homocystinuria-megaloblastic anemia, cblE complementation type" RELATED [MONDO:Lexical] +synonym: "methylcobalamin deficiency type cblE" EXACT CLINGEN_LABEL [Orphanet:2169] +synonym: "methylcobalamin deficiency, cblE type" RELATED [] +synonym: "methylmalonic aciduria and homocystinuria type cblE" RELATED [] +synonym: "vitamin B12-responsive homocystinuria, cblE type" RELATED [] xref: DOID:0050732 {source="EFO:0005568", source="MONDO:equivalentTo"} xref: DOID:0112255 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:3576 {source="MONDO:GARD"} @@ -200607,9 +200637,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive humeroradial synostosis (disease)" EXACT [] -synonym: "humeroradial synostosis" RELATED [OMIM:236400] +synonym: "humeroradial synostosis" RELATED [] synonym: "humeroradial synostosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -synonym: "humeroradial/multiple synostosis syndrome" RELATED [OMIM:236400] +synonym: "humeroradial/multiple synostosis syndrome" RELATED [] xref: MEDGEN:343467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:236400 {source="MONDO:equivalentTo"} xref: Orphanet:3265 {source="OMIM:236400"} @@ -200633,8 +200663,8 @@ is_a: MONDO:0007737 {source="https://orcid.org/0000-0002-6601-2165"} ! humerorad [Term] id: MONDO:0009358 name: Hutterite cerebroosteonephrodysplasia syndrome -synonym: "cerebroosteonephosis syndrome" RELATED [OMIM:236450] -synonym: "cond" RELATED [OMIM:236450] +synonym: "cerebroosteonephosis syndrome" RELATED [] +synonym: "cond" RELATED [] synonym: "Hutterite cerebroosteonephrodysplasia syndrome" EXACT [OMIM:236450] xref: MEDGEN:343466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536074 {source="MONDO:equivalentTo"} @@ -200654,10 +200684,10 @@ subset: orphanet_rare {source="Orphanet:500135"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hydranencephaly with renal aplasia-dysplasia" EXACT [OMIM:236500] -synonym: "MARCH" RELATED ABBREVIATION [OMIM:236500] +synonym: "MARCH" RELATED ABBREVIATION [] synonym: "MARCH syndrome" EXACT [Orphanet:500135] -synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly" RELATED [OMIM:236500] -synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly" RELATED [OMIM:236500] +synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly" RELATED [] +synonym: "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly" RELATED [] xref: DOID:0080327 {source="MONDO:equivalentTo"} xref: GARD:17922 {source="MONDO:GARD"} xref: MEDGEN:343465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -200681,12 +200711,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CCDC88C congenital hydrocephalus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "congenital hydrocephalus caused by mutation in CCDC88C" EXACT [MONDO:design_pattern] -synonym: "HYC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236600] -synonym: "hydrocephalus, congenital, 1" EXACT [OMIM:236600, OMIM:genemap2] -synonym: "hydrocephalus, nonsyndromic, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:236600] -synonym: "hydrocephalus, nonsyndromic, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:236600] -synonym: "hydrocephaly" RELATED [OMIM:236600] -synonym: "ventriculomegaly" RELATED [OMIM:236600] +synonym: "HYC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hydrocephalus, congenital, 1" EXACT [OMIM:236600] +synonym: "hydrocephalus, nonsyndromic, autosomal recessive 1" EXACT [MONDO:Lexical] +synonym: "hydrocephalus, nonsyndromic, autosomal recessive type 1" EXACT [MONDORULE:1] +synonym: "hydrocephaly" RELATED [] +synonym: "ventriculomegaly" RELATED [] xref: MEDGEN:854455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:236600 {source="MONDO:equivalentTo"} xref: Orphanet:2185 {source="OMIM:236600"} @@ -200704,7 +200734,7 @@ name: autosomal recessive hydrocephalus due to congenital stenosis of aqueduct o subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aqueductal stenosis" RELATED [OMIM:236635] +synonym: "aqueductal stenosis" RELATED [] synonym: "hydrocephalus due to congenital stenosis of aqueduct of Sylvius" EXACT [OMIM:236635] xref: MEDGEN:608953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:236635 {source="MONDO:equivalentTo"} @@ -200726,7 +200756,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "game Friedman Paradice syndrome" RELATED [GARD:0002427] synonym: "game-Friedman-Paradice syndrome" EXACT [Orphanet:3035] -synonym: "hydrocephalus with associated malformations" RELATED [OMIM:236640] +synonym: "hydrocephalus with associated malformations" RELATED [] synonym: "retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities" RELATED [GARD:0002427] xref: GARD:2427 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3035", source="Orphanet:3035/attributed", source="Orphanet:3035/ntbt"} @@ -200753,7 +200783,7 @@ subset: rare synonym: "Daish Hardman Lamont syndrome" RELATED [GARD:0001666] synonym: "Daish-Hardman-Lamont syndrome" EXACT [Orphanet:2181] synonym: "hydrocephalus, tall stature, joint laxity and kyphoscoliosis" RELATED [GARD:0001666] -synonym: "hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis" RELATED [OMIM:236660] +synonym: "hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis" RELATED [] synonym: "hydrocephaly - tall stature - joint laxity" RELATED [GARD:0001666] xref: GARD:1666 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2181/attributed", source="Orphanet:2181/ntbt", source="Orphanet:2181"} @@ -200774,15 +200804,15 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" RELATED [OMIM:236670] -synonym: "cod-MD syndrome" RELATED [OMIM:236670] -synonym: "hard syndrome" RELATED [OMIM:236670] -synonym: "hydrocephalus, agyria, and retinal dysplasia" RELATED [OMIM:236670] -synonym: "MDDGA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236670] +synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" RELATED [] +synonym: "cod-MD syndrome" RELATED [] +synonym: "hard syndrome" RELATED [] +synonym: "hydrocephalus, agyria, and retinal dysplasia" RELATED [] +synonym: "MDDGA1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "muscle-eye-brain-POMT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1" EXACT [NCIT:C128118] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" RELATED [MONDO:Lexical, OMIM:236670] -synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related" RELATED [OMIM:236670] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" RELATED [MONDO:Lexical] +synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related" RELATED [] xref: DOID:0111237 {source="MONDO:equivalentTo"} xref: MEDGEN:924974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C128118 {source="MONDO:equivalentTo"} @@ -200806,11 +200836,11 @@ def: "Any hydrolethalus syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:15182", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236680] -synonym: "hydrolethalus syndrome" BROAD [OMIM:236680, OMIM:genemap2] -synonym: "hydrolethalus syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:236680] +synonym: "HLS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hydrolethalus syndrome" BROAD [] +synonym: "hydrolethalus syndrome 1" EXACT CLINGEN_LABEL [DOID:0111355, MONDO:Lexical, OMIM:236680] synonym: "hydrolethalus syndrome caused by mutation in HYLS1" EXACT [MONDO:design_pattern] -synonym: "hydrolethalus syndrome type 1" EXACT [MONDORULE:1, OMIM:236680] +synonym: "hydrolethalus syndrome type 1" EXACT [MONDORULE:1] synonym: "HYLS1 hydrolethalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111355 {source="MONDO:equivalentTo"} xref: GARD:15182 {source="MONDO:GARD"} @@ -200832,11 +200862,11 @@ name: normal pressure hydrocephalus def: "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" [MESH:D006850] subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "chronic adult hydrocephalus" EXACT [Orphanet:314928] -synonym: "hydrocephalus, normal pressure, 1" EXACT [OMIM:236690, OMIM:genemap2] -synonym: "hydrocephalus, normal-pressure" RELATED [OMIM:236690] +synonym: "chronic adult hydrocephalus" EXACT [] +synonym: "hydrocephalus, normal pressure, 1" EXACT [] +synonym: "hydrocephalus, normal-pressure" RELATED [] synonym: "low pressure hydrocephalus" EXACT [DOID:1572] -synonym: "NPH" EXACT ABBREVIATION [Orphanet:314928] +synonym: "NPH" EXACT ABBREVIATION [] xref: DOID:1572 {source="EFO:1001065", source="MONDO:equivalentTo"} xref: EFO:1001065 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G91.2 {source="Orphanet:314928/e", source="DOID:1572", source="Orphanet:314928"} @@ -200866,15 +200896,15 @@ subset: orphanet_rare {source="Orphanet:2473"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HMCS" RELATED ABBREVIATION [GARD:0003427] -synonym: "hydrometrocolpos syndrome" RELATED [OMIM:236700] -synonym: "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" RELATED [OMIM:236700] -synonym: "hydrometrocolpos-postaxial polydactyly syndrome" EXACT [Orphanet:2473] +synonym: "hydrometrocolpos syndrome" RELATED [] +synonym: "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" RELATED [] +synonym: "hydrometrocolpos-postaxial polydactyly syndrome" EXACT [DOID:0111255, Orphanet:2473] synonym: "Kaufman McKusick syndrome" RELATED [GARD:0003427] synonym: "Kaufman-Mckusick syndrome" EXACT [OMIM:236700, Orphanet:2473] synonym: "McKusick Kaufman syndrome" RELATED [GARD:0003427] -synonym: "MCKUSICK-Kaufman syndrome" RELATED [OMIM:236700] -synonym: "McKusick-Kaufman syndrome" EXACT [MONDO:Lexical, OMIM:236700] -synonym: "MKKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236700] +synonym: "MCKUSICK-Kaufman syndrome" RELATED [] +synonym: "McKusick-Kaufman syndrome" EXACT [DOID:0111255, MONDO:Lexical, OMIM:236700, Orphanet:2473] +synonym: "MKKS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111255 {source="MONDO:equivalentTo"} xref: GARD:3427 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2473", source="Orphanet:2473/attributed", source="Orphanet:2473/ntbt"} @@ -200897,14 +200927,14 @@ id: MONDO:0009368 name: urofacial syndrome type 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "facial palsy, partial, with urinary abnormalities" RELATED [OMIM:236730] -synonym: "hydronephrosis with peculiar Facial expression" RELATED [OMIM:236730] -synonym: "inverted smile and occult neuropathic bladder" RELATED [OMIM:236730] -synonym: "Ochoa syndrome" RELATED [OMIM:236730] -synonym: "UFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236730] -synonym: "urofacial syndrome" RELATED [OMIM:236730] -synonym: "urofacial syndrome 1" RELATED [MONDO:Lexical, OMIM:236730] -synonym: "urofacial syndrome type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:236730] +synonym: "facial palsy, partial, with urinary abnormalities" RELATED [] +synonym: "hydronephrosis with peculiar Facial expression" RELATED [] +synonym: "inverted smile and occult neuropathic bladder" RELATED [] +synonym: "Ochoa syndrome" RELATED [] +synonym: "UFS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "urofacial syndrome" RELATED [] +synonym: "urofacial syndrome 1" RELATED [MONDO:Lexical] +synonym: "urofacial syndrome type 1" EXACT CLINGEN_LABEL [MONDORULE:1] xref: OMIM:236730 {source="MONDO:equivalentTo", source="Orphanet:2704"} is_a: MONDO:0000463 {source="DC-OMIM:236730", source="OMIM:236730"} ! Ochoa syndrome relationship: has_characteristic HP:0000007 {source="MONDO:HPOA", source="OMIM:236730"} ! Autosomal recessive inheritance @@ -200919,10 +200949,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:363999"} subset: rare synonym: "Haemoglobin H hydrops fetalis syndrome" RELATED OMO:0003005 [] -synonym: "Hemoglobin H hydrops fetalis syndrome" RELATED [OMIM:236750] -synonym: "hydrops fetalis, Alpha-thalassemia-related" RELATED [OMIM:236750] -synonym: "hydrops fetalis, nonimmune" RELATED [MONDO:Lexical, OMIM:236750] -synonym: "NIHF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236750] +synonym: "Hemoglobin H hydrops fetalis syndrome" RELATED [] +synonym: "hydrops fetalis, Alpha-thalassemia-related" RELATED [] +synonym: "hydrops fetalis, nonimmune" RELATED [MONDO:Lexical] +synonym: "NIHF" RELATED ABBREVIATION [MONDO:Lexical] synonym: "non-immune fetal edema" EXACT [Orphanet:363999] synonym: "non-immune fetal hydrops" EXACT [Orphanet:363999] synonym: "non-immune foetal hydrops" EXACT OMO:0003005 [] @@ -200953,10 +200983,10 @@ subset: ordo_disorder {source="Orphanet:79314"} subset: orphanet_rare {source="Orphanet:79314"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "L-2-HGA" EXACT [Orphanet:79314] +synonym: "L-2-HGA" EXACT ABBREVIATION [Orphanet:79314] synonym: "L-2-hydroxyglutaric acidemia" EXACT [DOID:0050574, OMIM:236792, Orphanet:79314] -synonym: "L-2-hydroxyglutaric aciduria" EXACT [MONDO:Lexical, OMIM:236792] -synonym: "L2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:236792] +synonym: "L-2-hydroxyglutaric aciduria" EXACT [DOID:0050574, icd11.foundation:562958433, MONDO:Lexical, OMIM:236792, Orphanet:79314] +synonym: "L2HGA" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050574 {source="MONDO:equivalentTo"} xref: GARD:10472 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:79314", source="Orphanet:79314/attributed", source="Orphanet:79314/ntbt"} @@ -200981,7 +201011,7 @@ subset: ordo_disorder {source="Orphanet:939"} subset: orphanet_rare {source="Orphanet:939"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3-hydroxyisobutyric aciduria" EXACT [OMIM:236795] +synonym: "3-hydroxyisobutyric aciduria" EXACT [icd11.foundation:1293648631, OMIM:236795, Orphanet:939] synonym: "disorder of valine metabolism" RELATED [GARD:0005662] xref: GARD:5662 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:939", source="Orphanet:939/attributed", source="Orphanet:939/ntbt"} @@ -201008,10 +201038,10 @@ subset: ordo_disorder {source="Orphanet:79155"} subset: orphanet_rare {source="Orphanet:79155"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hydroxykynureninuria" RELATED [OMIM:236800] -synonym: "kynureninase deficiency" EXACT [OMIM:236800, Orphanet:79155] -synonym: "kynureninase deficiency, partial" RELATED [OMIM:236800] -synonym: "Xanthurenic aciduria" EXACT [OMIM:236800, Orphanet:79155] +synonym: "hydroxykynureninuria" RELATED [] +synonym: "kynureninase deficiency" EXACT [DOID:0112257, icd11.foundation:1145853843, Orphanet:79155] +synonym: "kynureninase deficiency, partial" RELATED [] +synonym: "Xanthurenic aciduria" EXACT [DOID:0112257, icd11.foundation:1145853843, OMIM:236800, Orphanet:79155] xref: DOID:0112257 {source="MONDO:equivalentTo"} xref: GARD:10039 {source="MONDO:GARD"} xref: ICD10CM:E70.8 {source="Orphanet:79155", source="Orphanet:79155/attributed", source="Orphanet:79155/ntbt"} @@ -201036,7 +201066,7 @@ subset: ordo_disorder {source="Orphanet:79156"} subset: orphanet_rare {source="Orphanet:79156"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hydroxylysinuria" RELATED [OMIM:236900] +synonym: "hydroxylysinuria" RELATED [] xref: GARD:16709 {source="MONDO:GARD"} xref: ICD10CM:E72.3 {source="Orphanet:79156/attributed", source="Orphanet:79156/ntbt", source="Orphanet:79156"} xref: MEDGEN:343450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -201053,10 +201083,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: mostly_harmless {source="PMID:29884839"} subset: otar {source="MONDO:OTAR"} synonym: "4 alpha hydroxy-L-proline oxidase deficiency" RELATED [GARD:0010717] -synonym: "4-hydroxy-L-proline oxidase deficiency" RELATED [OMIM:237000] -synonym: "HYDROXYPROLINEMIA" RELATED ABBREVIATION [OMIM:237000] -synonym: "Hydroxyprolinemia" EXACT [MONDO:ambiguous] -synonym: "hydroxyprolinemia" EXACT CLINGEN_LABEL [] +synonym: "4-hydroxy-L-proline oxidase deficiency" RELATED [] +synonym: "HYDROXYPROLINEMIA" RELATED ABBREVIATION [] +synonym: "Hydroxyprolinemia" EXACT [MONDO:ambiguous, OMIM:237000] +synonym: "hydroxyprolinemia" EXACT CLINGEN_LABEL [OMIM:237000] synonym: "hydroxyprolinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0003260 {source="MONDO:otherHierarchy"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -201094,18 +201124,18 @@ subset: ordo_disorder {source="Orphanet:147"} subset: orphanet_rare {source="Orphanet:147"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carbamoyl phosphate synthetase 1 deficiency" RELATED [OMIM:237300] -synonym: "carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to" RELATED [OMIM:237300] +synonym: "carbamoyl phosphate synthetase 1 deficiency" RELATED [] +synonym: "carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to" RELATED [] synonym: "carbamoyl phosphate synthetase deficiency" EXACT [NCIT:C84612] -synonym: "carbamoyl phosphate synthetase I deficiency disease" EXACT CLINGEN_LABEL [] -synonym: "carbamoyl phosphate synthetase I deficiency, hyperammonemia due to" RELATED [OMIM:237300] -synonym: "carbamoyl-phosphate synthase deficiency disease" EXACT [NCIT:C84612] -synonym: "carbamoyl-phosphate synthetase 1 deficiency" RELATED [Orphanet:147] +synonym: "carbamoyl phosphate synthetase I deficiency disease" EXACT CLINGEN_LABEL [DOID:9280] +synonym: "carbamoyl phosphate synthetase I deficiency, hyperammonemia due to" RELATED [] +synonym: "carbamoyl-phosphate synthase deficiency disease" EXACT [] +synonym: "carbamoyl-phosphate synthetase 1 deficiency" RELATED [] synonym: "carbamoyl-phosphate synthetase deficiency" EXACT [Orphanet:147] -synonym: "carbamoyl-phosphate synthetase I deficiency" EXACT [Orphanet:147] -synonym: "carbamoylphosphate synthetase I deficiency" EXACT [OMIM:237300, OMIM:genemap2] +synonym: "carbamoyl-phosphate synthetase I deficiency" EXACT [NCIT:C84612, Orphanet:147] +synonym: "carbamoylphosphate synthetase I deficiency" EXACT [] synonym: "carbamyl phosphate synthetase (CPS) deficiency" RELATED [GARD:0007269] -synonym: "CPS 1 deficiency" RELATED [OMIM:237300] +synonym: "CPS 1 deficiency" RELATED [] synonym: "CPS I deficiency" EXACT [DOID:9280] synonym: "CPS1 deficiency" EXACT [Orphanet:147] synonym: "CPS1D" EXACT ABBREVIATION [Orphanet:147] @@ -201143,15 +201173,15 @@ subset: ordo_disorder {source="Orphanet:927"} subset: orphanet_rare {source="Orphanet:927"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyperammonemia due to N-acetylglutamate synthase deficiency" EXACT CLINGEN_LABEL [] -synonym: "hyperammonemia due to N-acetylglutamate synthetase deficiency" RELATED [OMIM:237310] +synonym: "hyperammonemia due to N-acetylglutamate synthase deficiency" EXACT CLINGEN_LABEL [DOID:0112258, Orphanet:927] +synonym: "hyperammonemia due to N-acetylglutamate synthetase deficiency" RELATED [] synonym: "N-acetyl glutamate synthetase deficiency" RELATED [GARD:0007158] -synonym: "N-acetylglutamate synthase deficiency" RELATED [MONDO:Lexical, OMIM:237310] -synonym: "N-acetylglutamate synthetase deficiency" RELATED [OMIM:237310] +synonym: "N-acetylglutamate synthase deficiency" RELATED [MONDO:Lexical] +synonym: "N-acetylglutamate synthetase deficiency" RELATED [] synonym: "NAG synthetase deficiency" RELATED [GARD:0007158] -synonym: "NAGS deficiency" EXACT [Orphanet:927] -synonym: "Nags deficiency" RELATED [OMIM:237310] -synonym: "NAGSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237310] +synonym: "NAGS deficiency" EXACT [DOID:0112258, OMIM:237310, Orphanet:927] +synonym: "Nags deficiency" RELATED [] +synonym: "NAGSD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0112258 {source="MONDO:equivalentTo"} xref: GARD:7158 {source="MONDO:GARD"} xref: ICD10CM:E72.2 {source="Orphanet:927/attributed", source="Orphanet:927/ntbt", source="Orphanet:927"} @@ -201181,7 +201211,7 @@ subset: ordo_disorder {source="Orphanet:309147"} subset: orphanet_rare {source="Orphanet:309147"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyper-beta-alaninemia" EXACT [GARD:0010267, OMIM:237400] +synonym: "hyper-beta-alaninemia" EXACT [GARD:0010267, OMIM:237400, Orphanet:309147] synonym: "hyperalaninemia" EXACT [GARD:0010267, OMIM:237400, Orphanet:309147] synonym: "hyperbetaalaninemia" RELATED [GARD:0010267] xref: GARD:10267 {source="MONDO:GARD"} @@ -201206,11 +201236,11 @@ subset: ordo_disorder {source="Orphanet:3111"} subset: orphanet_rare {source="Orphanet:3111"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HBLRR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237450] -synonym: "hyperbilirubinemia, ROTOR type" RELATED [MONDO:Lexical, OMIM:237450] -synonym: "hyperbilirubinemia, Rotor type" EXACT [Orphanet:3111] -synonym: "hyperbilirubinemia, rotor type, digenic" EXACT [OMIM:237450, OMIM:genemap2] -synonym: "Rotor syndrome" EXACT [OMIM:237450] +synonym: "HBLRR" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperbilirubinemia, ROTOR type" RELATED [MONDO:Lexical] +synonym: "hyperbilirubinemia, Rotor type" EXACT [OMIM:237450, Orphanet:3111] +synonym: "hyperbilirubinemia, rotor type, digenic" EXACT [] +synonym: "Rotor syndrome" EXACT [icd11.foundation:1965776012, OMIM:237450, Orphanet:3111] synonym: "Rotor-type hyperbilirubinemia" RELATED [GARD:0000218] xref: GARD:218 {source="MONDO:GARD"} xref: ICD10CM:E80.6 {source="Orphanet:3111", source="Orphanet:3111/attributed", source="Orphanet:3111/ntbt"} @@ -201237,17 +201267,17 @@ subset: ordo_disorder {source="Orphanet:234"} subset: orphanet_rare {source="Orphanet:234"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chronic idiopathic jaundice" EXACT [DOID:12308] +synonym: "chronic idiopathic jaundice" EXACT [DOID:12308, NCIT:C34741] synonym: "conjugated hyperbilirubinemia" RELATED [GARD:0006289] -synonym: "DJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237500] -synonym: "Dubin Johnson Syndrome" EXACT [NORD:1063] +synonym: "DJS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Dubin Johnson Syndrome" EXACT [DOID:12308, NORD:1063] synonym: "Dubin Johnson syndrome" EXACT [DOID:12308] -synonym: "Dubin-Johnson syndrome" EXACT [MONDO:Lexical, OMIM:237500] -synonym: "Dubin-Sprinz disease" EXACT [Orphanet:234] -synonym: "hyperbilirubinemia 2" RELATED [OMIM:237500] +synonym: "Dubin-Johnson syndrome" EXACT [DOID:12308, icd11.foundation:1691610999, MONDO:Lexical, NCIT:C34741, OMIM:237500, Orphanet:234] +synonym: "Dubin-Sprinz disease" EXACT [icd11.foundation:1691610999, Orphanet:234] +synonym: "hyperbilirubinemia 2" RELATED [] synonym: "hyperbilirubinemia type 2" EXACT [Orphanet:234] -synonym: "hyperbilirubinemia, Dubin-Johnson type" RELATED [OMIM:237500] -synonym: "Sprinz-Nelson syndrome" EXACT [Orphanet:234] +synonym: "hyperbilirubinemia, Dubin-Johnson type" RELATED [] +synonym: "Sprinz-Nelson syndrome" EXACT [icd11.foundation:1691610999, Orphanet:234] xref: DOID:12308 {source="MONDO:equivalentTo"} xref: GARD:2793 {source="MONDO:GARD"} xref: ICD10CM:E80.6 {source="DOID:12308", source="Orphanet:234/attributed", source="Orphanet:234/ntbt", source="Orphanet:234"} @@ -201272,7 +201302,7 @@ id: MONDO:0009381 name: hyperbilirubinemia, conjugated, type 3 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "hyperbilirubinemia, conjugated, type III" RELATED [OMIM:237550] +synonym: "hyperbilirubinemia, conjugated, type III" RELATED [] xref: MEDGEN:98323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562885 {source="MONDO:equivalentTo"} xref: OMIM:237550 {source="MONDO:equivalentTo"} @@ -201301,11 +201331,11 @@ subset: ordo_disorder {source="Orphanet:2312"} subset: orphanet_rare {source="Orphanet:2312"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "breast milk jaundice" RELATED [OMIM:237900] -synonym: "HBLRTFN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:237900] +synonym: "breast milk jaundice" RELATED [] +synonym: "HBLRTFN" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hyperbilirubinemia transient familial neonatal" RELATED [GARD:0002791] -synonym: "hyperbilirubinemia, familial transient neonatal" EXACT [OMIM:237900, OMIM:genemap2] -synonym: "hyperbilirubinemia, transient familial neonatal" RELATED [MONDO:Lexical, OMIM:237900] +synonym: "hyperbilirubinemia, familial transient neonatal" EXACT [] +synonym: "hyperbilirubinemia, transient familial neonatal" RELATED [MONDO:Lexical] synonym: "Lucey-Driscoll syndrome" EXACT [OMIM:237900, Orphanet:2312] synonym: "transient familial hyperbilirubinemia" RELATED [GARD:0003304] xref: GARD:2791 {source="MONDO:GARD"} @@ -201328,18 +201358,18 @@ def: "Any Leydig cell hypoplasia in which the cause of the disease is a mutation subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypergonadotropic hypogonadism, Male, due to Lhcgr defect" RELATED [OMIM:238320] -synonym: "Leydig cell agenesis" RELATED [OMIM:238320] +synonym: "hypergonadotropic hypogonadism, Male, due to Lhcgr defect" RELATED [] +synonym: "Leydig cell agenesis" RELATED [] synonym: "Leydig cell hypoplasia caused by mutation in LHCGR" EXACT [MONDO:design_pattern] -synonym: "leydig cell hypoplasia with hypergonadotropic hypogonadism" EXACT [OMIM:238320, OMIM:genemap2] -synonym: "Leydig cell hypoplasia with male pseudohermaphroditism" RELATED [OMIM:238320] -synonym: "leydig cell hypoplasia with pseudohermaphroditism" EXACT [OMIM:238320, OMIM:genemap2] -synonym: "Leydig cell hypoplasia, complete" RELATED [OMIM:238320] -synonym: "Leydig cell hypoplasia, partial" RELATED [OMIM:238320] -synonym: "Leydig cell Hypoplasia, type 2" RELATED [OMIM:238320] -synonym: "Leydig cell hypoplasia, type I" RELATED [OMIM:238320] +synonym: "leydig cell hypoplasia with hypergonadotropic hypogonadism" EXACT [] +synonym: "Leydig cell hypoplasia with male pseudohermaphroditism" RELATED [] +synonym: "leydig cell hypoplasia with pseudohermaphroditism" EXACT [] +synonym: "Leydig cell hypoplasia, complete" RELATED [] +synonym: "Leydig cell hypoplasia, partial" RELATED [] +synonym: "Leydig cell Hypoplasia, type 2" RELATED [] +synonym: "Leydig cell hypoplasia, type I" RELATED [] synonym: "LHCGR Leydig cell hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "luteinizing hormone resistance, female" RELATED [OMIM:238320] +synonym: "luteinizing hormone resistance, female" RELATED [] xref: MEDGEN:120576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:238320 {source="MONDO:equivalentTo"} xref: Orphanet:755 {source="OMIM:238320"} @@ -201366,9 +201396,9 @@ is_a: MONDO:0003847 {source="MESH:C562674/inferred"} ! hereditary disease [Term] id: MONDO:0009386 name: hyperlexia -synonym: "compulsive reading" RELATED [OMIM:238350] +synonym: "compulsive reading" RELATED [] synonym: "hyperlexia" EXACT [OMIM:238350] -synonym: "precocious reading" RELATED [OMIM:238350] +synonym: "precocious reading" RELATED [] xref: MEDGEN:341011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565500 {source="MONDO:equivalentTo"} xref: OMIM:238350 {source="MONDO:equivalentTo"} @@ -201387,30 +201417,30 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:309015"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Burger-Grutz syndrome" RELATED [GARD:0012241] -synonym: "chylomicronemia, familial" RELATED [OMIM:238600] +synonym: "chylomicronemia, familial" RELATED [] synonym: "endogenous hypertriglyceridaemia" RELATED [GARD:0012241] -synonym: "familial chylomiconemia syndrome" EXACT [DOID:14118] +synonym: "familial chylomiconemia syndrome" EXACT [] synonym: "familial fat-induced hypertriglyceridemia" RELATED [GARD:0012241] synonym: "familial hyperchylomicronemia" RELATED [GARD:0012241] synonym: "familial hyperlipoproteinemia type I" EXACT [DOID:14118] -synonym: "familial lipoprotein lipase deficiency (disorder) [ambiguous]" EXACT [DOID:14118] -synonym: "familial lipoprotein lipase deficiency with type I phenotype" EXACT [DOID:14118] +synonym: "familial lipoprotein lipase deficiency (disorder) [ambiguous]" EXACT [] +synonym: "familial lipoprotein lipase deficiency with type I phenotype" EXACT [] synonym: "familial LPL deficiency" EXACT [DOID:14118] synonym: "Fredrickson type I hyperlipoproteinemia" EXACT [DOID:14118] synonym: "Fredrickson type I lipaemia" EXACT [DOID:14118] -synonym: "high density lipoprotein cholesterol level QTL 11" EXACT [OMIM:238600, OMIM:genemap2] +synonym: "high density lipoprotein cholesterol level QTL 11" EXACT [] synonym: "hypercholesterinaemic xanthomatosis" EXACT [DOID:14118] synonym: "hyperchylomicronemia" EXACT [DOID:14118, ICD9CM:272.3] -synonym: "hyperchylomicronemia, familial" RELATED [OMIM:238600] -synonym: "hyperlipemia, essential familial" RELATED [OMIM:238600] -synonym: "hyperlipemia, idiopathic, Burger-Grutz type" RELATED [OMIM:238600] -synonym: "hyperlipoproteinemia type I" EXACT [NCIT:C84771] -synonym: "hyperlipoproteinemia, type 1" RELATED [OMIM:238600] -synonym: "hyperlipoproteinemia, type 1A" RELATED [OMIM:238600] -synonym: "hyperlipoproteinemia, type I" RELATED [OMIM:238600] -synonym: "lipase D deficiency" RELATED [OMIM:238600] -synonym: "lipd deficiency" RELATED [OMIM:238600] -synonym: "lipoprotein lipase deficiency" RELATED [OMIM:238600] +synonym: "hyperchylomicronemia, familial" RELATED [] +synonym: "hyperlipemia, essential familial" RELATED [] +synonym: "hyperlipemia, idiopathic, Burger-Grutz type" RELATED [] +synonym: "hyperlipoproteinemia type I" EXACT [] +synonym: "hyperlipoproteinemia, type 1" RELATED [] +synonym: "hyperlipoproteinemia, type 1A" RELATED [] +synonym: "hyperlipoproteinemia, type I" RELATED [] +synonym: "lipase D deficiency" RELATED [] +synonym: "lipd deficiency" RELATED [] +synonym: "lipoprotein lipase deficiency" RELATED [] synonym: "lipoprotein lipase deficiency, familial" RELATED [GARD:0012241] synonym: "LPL deficiency" EXACT [OMIM:238600, Orphanet:309015] synonym: "mixed hyperglyceridemia" EXACT [DOID:14118] @@ -201453,17 +201483,17 @@ subset: ordo_disorder {source="Orphanet:2203"} subset: orphanet_rare {source="Orphanet:2203"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [OMIM:238700] -synonym: "hyperlysinemia" EXACT CLINGEN_LABEL [MONDO:ambiguous] +synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [] +synonym: "hyperlysinemia" EXACT CLINGEN_LABEL [DOID:9274, MONDO:ambiguous, NCIT:C123433, Orphanet:2203] synonym: "hyperlysinemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hyperlysinemia type I" EXACT [Orphanet:2203] -synonym: "hyperlysinemia, type 1" RELATED [OMIM:238700] -synonym: "hyperlysinemia, type I" RELATED [OMIM:238700] +synonym: "hyperlysinemia, type 1" RELATED [] +synonym: "hyperlysinemia, type I" RELATED [] synonym: "L-lysine NAD-oxido-reductase deficiency" RELATED [GARD:0002828] -synonym: "L-lysine:NAD-oxido-reductase deficiency" RELATED [OMIM:238700] +synonym: "L-lysine:NAD-oxido-reductase deficiency" RELATED [] synonym: "lysine alpha-ketoglutarate reductase deficiency" EXACT [Orphanet:2203] -synonym: "lysine intolerance" RELATED [OMIM:238700] -synonym: "lysine:Alpha-ketoglutarate reductase deficiency" RELATED [OMIM:238700] +synonym: "lysine intolerance" RELATED [] +synonym: "lysine:Alpha-ketoglutarate reductase deficiency" RELATED [] xref: DOID:9274 {source="MONDO:equivalentTo"} xref: GARD:2828 {source="MONDO:GARD"} xref: HP:0002161 {source="MONDO:otherHierarchy"} @@ -201488,7 +201518,7 @@ id: MONDO:0009389 name: hyperlysinemia due to defect in lysine transport into mitochondria subset: gard_rare {source="GARD:15183", source="MONDO:GARD"} subset: rare -synonym: "hyperlysinemia due to defect in lysine TRANSPORT into mitochondria" RELATED [OMIM:238710] +synonym: "hyperlysinemia due to defect in lysine TRANSPORT into mitochondria" RELATED [] xref: GARD:15183 {source="MONDO:GARD"} xref: MEDGEN:341010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565499 {source="MONDO:equivalentTo"} @@ -201500,7 +201530,7 @@ is_a: MONDO:0009388 {source="Orphanet:2203/btnt"} ! hyperlysinemia [Term] id: MONDO:0009390 name: hyperlysinuria with hyperammonemia -synonym: "hyperlysinemia, periodic" RELATED [OMIM:238750] +synonym: "hyperlysinemia, periodic" RELATED [] synonym: "hyperlysinuria with hyperammonemia" EXACT [OMIM:238750] xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:120650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -201512,7 +201542,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0009391 name: hypermetabolism due to defect in mitochondria -synonym: "hypermetabolism due to defect in mitochondria" EXACT [OMIM:238800] +synonym: "hypermetabolism due to defect in mitochondria" EXACT [] synonym: "hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 1" EXACT [OMIM:238800] xref: MEDGEN:344612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565498 {source="MONDO:equivalentTo"} @@ -201542,14 +201572,14 @@ subset: orphanet_rare {source="Orphanet:415"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HHH" RELATED ABBREVIATION [GARD:0002830] -synonym: "HHH syndrome" EXACT [DOID:0050720, Orphanet:415] -synonym: "Hhh syndrome" RELATED [OMIM:238970] +synonym: "HHH syndrome" EXACT [DOID:0050720, OMIM:238970, Orphanet:415] +synonym: "Hhh syndrome" RELATED [] synonym: "HHHS" RELATED ABBREVIATION [GARD:0002830] -synonym: "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome" EXACT [OMIM:238970, OMIM:genemap2] +synonym: "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome" EXACT [] synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome" EXACT [DOID:0050720] -synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" RELATED [OMIM:238970] +synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" RELATED [] synonym: "ornithine carrier deficiency" EXACT [Orphanet:415] -synonym: "ornithine translocase deficiency" EXACT CLINGEN_LABEL [OMIM:238970, Orphanet:415] +synonym: "ornithine translocase deficiency" EXACT CLINGEN_LABEL [DOID:0050720, OMIM:238970, Orphanet:415] synonym: "ornithine translocase deficiency syndrome" RELATED [GARD:0002830] synonym: "ORNT1 deficiency" EXACT [Orphanet:415] synonym: "triple H syndrome" EXACT [Orphanet:415] @@ -201584,22 +201614,22 @@ subset: orphanet_rare {source="Orphanet:2801"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial hyperphosphatasia" EXACT [NCIT:C131861] -synonym: "familial osteoectasia" EXACT [Orphanet:2801] -synonym: "Hereditary Hyperphosphatasia" EXACT [NORD:1230] -synonym: "hereditary hyperphosphatasia" EXACT [Orphanet:2801] +synonym: "familial osteoectasia" EXACT [DOID:0081368, Orphanet:2801] +synonym: "Hereditary Hyperphosphatasia" EXACT [DOID:0081368, NORD:1230, Orphanet:2801] +synonym: "hereditary hyperphosphatasia" EXACT [DOID:0081368, Orphanet:2801] synonym: "hyperostosid corticalis deformans juvenilis" RELATED [GARD:0002831] -synonym: "hyperostosis corticalis deformans juvenilis" EXACT [OMIM:239000, Orphanet:2801] -synonym: "hyperphosphatasemia, chronic congenital idiopathic" RELATED [OMIM:239000] -synonym: "hyperphosphatasia, familial idiopathic" RELATED [OMIM:239000] +synonym: "hyperostosis corticalis deformans juvenilis" EXACT [DOID:0081368, OMIM:239000, Orphanet:2801] +synonym: "hyperphosphatasemia, chronic congenital idiopathic" RELATED [] +synonym: "hyperphosphatasia, familial idiopathic" RELATED [] synonym: "JPD" RELATED ABBREVIATION [GARD:0002831] synonym: "JPG" EXACT ABBREVIATION [Orphanet:2801] -synonym: "juvenile Paget disease" EXACT CLINGEN_LABEL [OMIM:239000] -synonym: "juvenile Paget's disease" EXACT [Orphanet:2801] +synonym: "juvenile Paget disease" EXACT CLINGEN_LABEL [DOID:0081368, icd11.foundation:762002965, NCIT:C131861, OMIM:239000, Orphanet:2801] +synonym: "juvenile Paget's disease" EXACT [] synonym: "juvenile Pagets disease" RELATED [GARD:0002831] -synonym: "osteoectasia, familial" RELATED [OMIM:239000] +synonym: "osteoectasia, familial" RELATED [] synonym: "Paget disease juvenile type" RELATED [GARD:0002831] -synonym: "Paget disease of bone 5, juvenile-onset" RELATED [GARD:0002831, MONDO:Lexical, OMIM:239000] -synonym: "PDB5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239000] +synonym: "Paget disease of bone 5, juvenile-onset" RELATED [GARD:0002831, MONDO:Lexical] +synonym: "PDB5" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081368 {source="MONDO:equivalentTo"} xref: GARD:2831 {source="MONDO:GARD"} xref: ICD10CM:M88.0 {source="Orphanet:2801", source="Orphanet:2801/attributed", source="Orphanet:2801/ntbt"} @@ -201634,15 +201664,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "endosteal hyperostosis" EXACT [NCIT:C131812] synonym: "endosteal hyperostosis autosomal recessive" RELATED [GARD:0002833] -synonym: "endosteal hyperostosis, autosomal recessive" RELATED [OMIM:239100] -synonym: "hyperostosis corticalis generalisata" EXACT [OMIM:239100] +synonym: "endosteal hyperostosis, autosomal recessive" RELATED [] +synonym: "hyperostosis corticalis generalisata" EXACT [icd11.foundation:241514592, OMIM:239100, Orphanet:3416] synonym: "hyperphosphatasemia tarda" EXACT [OMIM:239100, Orphanet:3416] -synonym: "SOST-related sclerosing bone dysplasia" RELATED [DOID:0080036] -synonym: "VAN Buchem disease" RELATED [OMIM:239100] -synonym: "Van Buchem disease" EXACT [OMIM:239100, Orphanet:3416] -synonym: "van Buchem disease" EXACT [DOID:0080036] +synonym: "SOST-related sclerosing bone dysplasia" RELATED [] +synonym: "VAN Buchem disease" RELATED [] +synonym: "Van Buchem disease" EXACT [DOID:0080036, NCIT:C131812, OMIM:239100, Orphanet:3416] +synonym: "van Buchem disease" EXACT [DOID:0080036, NCIT:C131812, OMIM:239100, Orphanet:3416] synonym: "van Buchem disease type 1" EXACT [NCIT:C131812] -synonym: "VBCH" RELATED ABBREVIATION [GARD:0002833, OMIM:239100] +synonym: "VBCH" RELATED ABBREVIATION [GARD:0002833] xref: DOID:0080036 {source="MONDO:equivalentTo"} xref: GARD:2833 {source="MONDO:GARD"} xref: ICD10CM:M85.2 {source="Orphanet:3416", source="Orphanet:3416/attributed", source="Orphanet:3416/ntbt"} @@ -201684,12 +201714,12 @@ subset: ordo_disorder {source="Orphanet:417"} subset: orphanet_rare {source="Orphanet:417"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyperparathyroidism, neonatal" EXACT [OMIM:239200, OMIM:genemap2] -synonym: "hyperparathyroidism, neonatal severe" RELATED [MONDO:Lexical, OMIM:239200] -synonym: "hyperparathyroidism, neonatal severe primary" RELATED [OMIM:239200] +synonym: "hyperparathyroidism, neonatal" EXACT [] +synonym: "hyperparathyroidism, neonatal severe" RELATED [MONDO:Lexical] +synonym: "hyperparathyroidism, neonatal severe primary" RELATED [] synonym: "neonatal severe hyperparathyroidism" RELATED [GARD:0002838] synonym: "NSHPT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:239200, Orphanet:417] -synonym: "Nsph" RELATED [OMIM:239200] +synonym: "Nsph" RELATED [] xref: GARD:2838 {source="MONDO:GARD"} xref: ICD10CM:E21.0 {source="Orphanet:417", source="Orphanet:417/attributed", source="Orphanet:417/ntbt"} xref: icd11.foundation:1929875111 {source="MONDO:equivalentTo"} @@ -201717,14 +201747,14 @@ def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause subset: gard_rare {source="GARD:18349", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "glycosylphosphatidylinositol biosynthesis defect 2" RELATED [OMIM:239300] -synonym: "HPMRS1" RELATED DEPRECATED [MONDO:Lexical, OMIM:239300] -synonym: "hyperphosphatasia with intellectual disability syndrome 1" EXACT [MONDO:Lexical, OMIM:239300] -synonym: "hyperphosphatasia with intellectual disability syndrome type 1" EXACT [MONDORULE:1, OMIM:239300] -synonym: "hyperphosphatasia with mental retardation syndrome 1" EXACT DEPRECATED [MONDO:Lexical, OMIM:239300] -synonym: "hyperphosphatasia with mental retardation syndrome type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:239300] +synonym: "glycosylphosphatidylinositol biosynthesis defect 2" RELATED [] +synonym: "HPMRS1" RELATED DEPRECATED [MONDO:Lexical] +synonym: "hyperphosphatasia with intellectual disability syndrome 1" EXACT [MONDO:Lexical] +synonym: "hyperphosphatasia with intellectual disability syndrome type 1" EXACT [MONDORULE:1] +synonym: "hyperphosphatasia with mental retardation syndrome 1" EXACT DEPRECATED [DOID:0070433, MONDO:Lexical] +synonym: "hyperphosphatasia with mental retardation syndrome type 1" EXACT DEPRECATED [MONDORULE:1] synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV" EXACT [MONDO:design_pattern] -synonym: "Mabry syndrome" RELATED [OMIM:239300] +synonym: "Mabry syndrome" RELATED [] synonym: "PIGV hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070433 {source="MONDO:equivalentTo"} xref: GARD:18349 {source="MONDO:GARD"} @@ -201758,14 +201788,14 @@ subset: ordo_disorder {source="Orphanet:419"} subset: orphanet_rare {source="Orphanet:419"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HPI" RELATED ABBREVIATION [OMIM:239500] +synonym: "HPI" RELATED ABBREVIATION [] synonym: "hyperprolinemia caused by mutation in PRODH" EXACT [MONDO:design_pattern] -synonym: "hyperprolinemia type 1" EXACT CLINGEN_LABEL [] -synonym: "hyperprolinemia, type 1" RELATED [OMIM:239500] -synonym: "hyperprolinemia, type I" RELATED [MONDO:Lexical, OMIM:239500] -synonym: "HYRPRO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239500] +synonym: "hyperprolinemia type 1" EXACT CLINGEN_LABEL [DOID:0080542, Orphanet:419] +synonym: "hyperprolinemia, type 1" RELATED [] +synonym: "hyperprolinemia, type I" RELATED [MONDO:Lexical] +synonym: "HYRPRO1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PRODH hyperprolinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "proline oxidase deficiency" EXACT [Orphanet:419] +synonym: "proline oxidase deficiency" EXACT [OMIM:239500, Orphanet:419] xref: DOID:0080542 {source="MONDO:equivalentTo"} xref: ICD10CM:E72.5 {source="Orphanet:419/inclusion", source="Orphanet:419", source="Orphanet:419/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -201795,17 +201825,17 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [GARD:0006710] synonym: "1-pyrroline-5-carboxylate dehydrogenase activity disease" EXACT [MONDO:design_pattern] -synonym: "1-pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [OMIM:239510] +synonym: "1-pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [] synonym: "ALDH4A1 hyperprolinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [MONDO:0022953] -synonym: "delta1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [Orphanet:79101] +synonym: "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [MONDO:0022953, Orphanet:79101] +synonym: "delta1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [] synonym: "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity" EXACT [MONDO:patterns/basis_in_disruption_of_process] -synonym: "HPII" RELATED ABBREVIATION [OMIM:239510] +synonym: "HPII" RELATED ABBREVIATION [] synonym: "hyperprolinemia caused by mutation in ALDH4A1" EXACT [MONDO:design_pattern] -synonym: "hyperprolinemia type 2" EXACT CLINGEN_LABEL [] -synonym: "hyperprolinemia, type 2" RELATED [OMIM:239510] -synonym: "hyperprolinemia, type II" RELATED [MONDO:Lexical, OMIM:239510] -synonym: "HYRPRO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:239510] +synonym: "hyperprolinemia type 2" EXACT CLINGEN_LABEL [DOID:0080543, Orphanet:79101] +synonym: "hyperprolinemia, type 2" RELATED [] +synonym: "hyperprolinemia, type II" RELATED [MONDO:Lexical] +synonym: "HYRPRO2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "type 2 hyperprolinemia" RELATED [GARD:0006710] xref: DOID:0080543 {source="MONDO:equivalentTo"} xref: GARD:6710 {source="MONDO:GARD"} @@ -201841,13 +201871,13 @@ subset: orphanet_rare {source="Orphanet:2211"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acrofrontofacionasal dysostosis 2" EXACT [OMIM:239710] -synonym: "acrofrontofacionasal dysostosis type 2" EXACT [MONDORULE:1, OMIM:239710, Orphanet:2211] -synonym: "acrofrontofacionasal dysostosis with genitourinary anomalies" RELATED [OMIM:239710] +synonym: "acrofrontofacionasal dysostosis type 2" EXACT [MONDORULE:1, Orphanet:2211] +synonym: "acrofrontofacionasal dysostosis with genitourinary anomalies" RELATED [] synonym: "acrofrontofacionasal dysostosis, severe" RELATED [GARD:0000287] synonym: "acrofrontofacionasal syndrome type 2" EXACT [Orphanet:2211] -synonym: "AFFN dysostosis 2" RELATED [OMIM:239710] +synonym: "AFFN dysostosis 2" RELATED [] synonym: "hypertelorism hypospadias polysyndactyly syndrome" RELATED [GARD:0000287] -synonym: "hypertelorism, hypospadias, and polysyndactyly syndrome" RELATED [OMIM:239710] +synonym: "hypertelorism, hypospadias, and polysyndactyly syndrome" RELATED [] synonym: "hypertelorism-hypospadias-polysyndactyly syndrome" EXACT [Orphanet:2211] synonym: "Naguib syndrome" RELATED [GARD:0000287] synonym: "Naguib-Richieri-Costa syndrome" EXACT [OMIM:239710, Orphanet:2211] @@ -201891,9 +201921,9 @@ synonym: "Bixler syndrome" EXACT [DOID:14670] synonym: "Bixler-Christian-Gorlin syndrome" EXACT [DOID:14670, Orphanet:2213] synonym: "HMC syndrome" EXACT [DOID:14670, OMIM:239800, Orphanet:2213] synonym: "hypertelorism microtia facial clefting syndrome" RELATED [GARD:0000897] -synonym: "hypertelorism, microtia, facial clefting syndrome" EXACT [OMIM:239800] +synonym: "hypertelorism, microtia, facial clefting syndrome" EXACT [DOID:14670, OMIM:239800] synonym: "hypertelorism-microtia-clefting syndrome" EXACT [DOID:14670] -synonym: "hypertelorism-microtia-facial clefting syndrome" EXACT [DOID:14670] +synonym: "hypertelorism-microtia-facial clefting syndrome" EXACT [DOID:14670, Orphanet:2213] xref: DOID:14670 {source="MONDO:equivalentTo"} xref: GARD:897 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:2213/attributed", source="Orphanet:2213/ntbt", source="Orphanet:2213"} @@ -201920,7 +201950,7 @@ subset: orphanet_rare {source="Orphanet:2218"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cervical hypertrichosis peripheral neuropathy" RELATED [GARD:0001226] -synonym: "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" RELATED [GARD:0001226, OMIM:239840] +synonym: "hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy" RELATED [GARD:0001226] xref: GARD:1226 {source="MONDO:GARD"} xref: MEDGEN:341004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565492 {source="MONDO:equivalentTo"} @@ -201946,9 +201976,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cantu syndrome" EXACT [DOID:0060569, OMIM:239850] synonym: "Craniofaciocardioskeletal syndrome" RELATED [GARD:0008585] -synonym: "hypertrichotic osteochondrodysplasia" RELATED [GARD:0008585, OMIM:239850] -synonym: "hypertrichotic osteochondrodysplasia (Cantu syndrome)" EXACT [OMIM:239850, OMIM:genemap2] -synonym: "hypertrichotic osteochondrodysplasia, Cantu type" RELATED [Orphanet:1517] +synonym: "hypertrichotic osteochondrodysplasia" RELATED [GARD:0008585] +synonym: "hypertrichotic osteochondrodysplasia (Cantu syndrome)" EXACT [] +synonym: "hypertrichotic osteochondrodysplasia, Cantu type" RELATED [] xref: DOID:0060569 {source="MONDO:equivalentTo"} xref: GARD:8585 {source="MONDO:GARD"} xref: ICD10CM:Q87.3 {source="Orphanet:1517/attributed", source="Orphanet:1517/ntbt", source="Orphanet:1517"} @@ -202026,36 +202056,36 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AIRE autoimmune polyendocrinopathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "aire autoimmune polyendocrinopathy" EXACT [MONDO:design_pattern] -synonym: "APECED syndrome" EXACT [Orphanet:3453] -synonym: "APS 1" RELATED [OMIM:240300] +synonym: "APECED syndrome" EXACT [NCIT:C129727, Orphanet:3453] +synonym: "APS 1" RELATED [] synonym: "APS type 1" EXACT [Orphanet:3453] -synonym: "APS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:240300, Orphanet:3453] +synonym: "APS1" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C129727, OMIM:240300, Orphanet:3453] synonym: "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome" EXACT [Orphanet:3453] -synonym: "autoimmune polyendocrine syndrome type 1" EXACT [Orphanet:3453] -synonym: "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia" RELATED [MONDO:Lexical, OMIM:240300] +synonym: "autoimmune polyendocrine syndrome type 1" EXACT [DOID:0050167, NCIT:C129727, Orphanet:3453] +synonym: "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia" RELATED [MONDO:Lexical] synonym: "autoimmune polyendocrinopathy caused by mutation in AIRE" EXACT [] synonym: "autoimmune polyendocrinopathy caused by mutation in aire" EXACT [MONDO:design_pattern] -synonym: "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia" EXACT [OMIM:240300, OMIM:genemap2] +synonym: "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia" EXACT [] synonym: "autoimmune polyendocrinopathy syndrome type 1" RELATED [GARD:0008466] -synonym: "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant" RELATED [OMIM:240300] -synonym: "autoimmune polyendocrinopathy type 1" RELATED [Orphanet:3453] +synonym: "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant" RELATED [] +synonym: "autoimmune polyendocrinopathy type 1" RELATED [] synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" EXACT [DOID:0050167, OMIM:240300] synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)" RELATED [GARD:0008466] -synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome" EXACT [Orphanet:3453] +synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome" EXACT [NCIT:C129727, Orphanet:3453] synonym: "autoimmune polyglandular syndrome I" EXACT [DOID:0050167] -synonym: "Autoimmune Polyglandular Syndrome Type 1" EXACT [NORD:798] -synonym: "autoimmune polyglandular syndrome type 1" EXACT [Orphanet:3453] -synonym: "autoimmune polyglandular syndrome, type 1" RELATED [OMIM:240300] +synonym: "Autoimmune Polyglandular Syndrome Type 1" EXACT [NCIT:C129727, NORD:798, Orphanet:3453] +synonym: "autoimmune polyglandular syndrome type 1" EXACT [NCIT:C129727, Orphanet:3453] +synonym: "autoimmune polyglandular syndrome, type 1" RELATED [] synonym: "ham syndrome" EXACT [Orphanet:3453] -synonym: "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis" RELATED [OMIM:240300] +synonym: "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis" RELATED [] synonym: "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome" EXACT [Orphanet:3453] synonym: "MEDAC syndrome" EXACT [Orphanet:3453] synonym: "multiple endocrine deficiency-Addison disease-candidiasis syndrome" EXACT [Orphanet:3453] -synonym: "PGA 1" RELATED [OMIM:240300] +synonym: "PGA 1" RELATED [] synonym: "polyglandular autoimmune syndrome type 1" EXACT [NCIT:C129727] -synonym: "polyglandular autoimmune syndrome, type 1" RELATED [OMIM:240300] -synonym: "polyglandular deficiency syndrome, Persian-Jewish type" RELATED [OMIM:240300] -synonym: "Whitaker syndrom" EXACT [DOID:0050167] +synonym: "polyglandular autoimmune syndrome, type 1" RELATED [] +synonym: "polyglandular deficiency syndrome, Persian-Jewish type" RELATED [] +synonym: "Whitaker syndrom" EXACT [] synonym: "Whitaker syndrome" RELATED [GTR:AN0156902] xref: DOID:0050167 {source="MONDO:equivalentTo"} xref: GARD:8466 {source="MONDO:GARD"} @@ -202087,17 +202117,17 @@ name: scurvy def: "A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur." [https://rarediseases.info.nih.gov/diseases/10406/scurvy] comment: An argument can be made that Vitamin C deficiency is a genetic disease shared by all humans, due to our loss of the GULO gene. See OMIM for discussion. Here we choose not to treat as genetic. subset: otar {source="MONDO:OTAR"} -synonym: "ascorbic acid deficiency" EXACT [MONDO:0006661] -synonym: "deficiency of vitamin C" EXACT [GARD:0010406] -synonym: "Gulo, nonfunctional" RELATED [OMIM:240400] -synonym: "hypoascorbemia" RELATED [OMIM:240400] -synonym: "L-gulonolactone oxidase pseudogene" RELATED [OMIM:240400] -synonym: "L-gulonolactone oxidase, nonfunctional" RELATED [OMIM:240400] +synonym: "ascorbic acid deficiency" EXACT [ICD10CM:E54, MONDO:0006661] +synonym: "deficiency of vitamin C" EXACT [GARD:0010406, ICD10CM:E54] +synonym: "Gulo, nonfunctional" RELATED [] +synonym: "hypoascorbemia" RELATED [] +synonym: "L-gulonolactone oxidase pseudogene" RELATED [] +synonym: "L-gulonolactone oxidase, nonfunctional" RELATED [] synonym: "scorbutus" RELATED [GARD:0010406] -synonym: "scurvy" EXACT [NCIT:C35010, OMIM:240400] +synonym: "scurvy" EXACT [DOID:13724, ICD10CM:E54, icd11.foundation:708602629, NCIT:C35010, OMIM:240400] synonym: "vitamin C deficiency" EXACT [GARD:0010406, NCIT:C35010] synonym: "vitamin C, inability to synthesise" RELATED OMO:0003005 [] -synonym: "vitamin C, inability to synthesize" RELATED [OMIM:240400] +synonym: "vitamin C, inability to synthesize" RELATED [] xref: DOID:13577 {source="MONDO:equivalentObsolete", source="EFO:1000822"} xref: DOID:13724 {source="EFO:1001169", source="MONDO:equivalentTo"} xref: EFO:1001169 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -202131,11 +202161,11 @@ subset: gard_rare {source="GARD:15184", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "antibody deficiency due to TACI defect" RELATED [OMIM:240500] -synonym: "CVID2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240500] -synonym: "hypogammaglobulinemia due to TACI deficiency" RELATED [OMIM:240500] +synonym: "antibody deficiency due to TACI defect" RELATED [] +synonym: "CVID2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogammaglobulinemia due to TACI deficiency" RELATED [] synonym: "immunodeficiency, common variable, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:240500] -synonym: "immunodeficiency, common variable, type 2" EXACT [MONDORULE:1, OMIM:240500] +synonym: "immunodeficiency, common variable, type 2" EXACT [MONDORULE:1] xref: DOID:0081145 {source="MONDO:equivalentTo"} xref: GARD:15184 {source="MONDO:GARD"} xref: MEDGEN:461704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -202155,24 +202185,24 @@ subset: ordo_disorder {source="Orphanet:2089"} subset: orphanet_rare {source="Orphanet:2089"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glycogen storage disease 0, liver" RELATED [MONDO:Lexical, OMIM:240600] +synonym: "glycogen storage disease 0, liver" RELATED [MONDO:Lexical] synonym: "glycogen storage disease due to glycogen synthase deficiency of liver" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease due to hepatic glycogen synthase deficiency" EXACT CLINGEN_LABEL [] +synonym: "glycogen storage disease due to hepatic glycogen synthase deficiency" EXACT CLINGEN_LABEL [Orphanet:2089] synonym: "glycogen storage disease due to liver glycogen synthase deficiency" EXACT [Orphanet:2089] synonym: "glycogen storage disease type 0" RELATED [] synonym: "glycogen storage disease type 0, liver" RELATED [GARD:0002513] synonym: "glycogen storage disease type 0a" EXACT [Orphanet:2089] synonym: "glycogen synthase deficiency" EXACT [] synonym: "glycogenosis type 0a" EXACT [Orphanet:2089] -synonym: "GSD 0A" RELATED [OMIM:240600] +synonym: "GSD 0A" RELATED [] synonym: "GSD due to hepatic glycogen synthase deficiency" EXACT [Orphanet:2089] synonym: "GSD type 0a" EXACT [Orphanet:2089] -synonym: "GSD0A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240600] +synonym: "GSD0A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hepatic glycogen synthase deficiency" RELATED [GARD:0002513] -synonym: "hypoglycemia with deficiency of glycogen synthetase in the liver" RELATED [GARD:0002889, OMIM:240600] -synonym: "liver glycogen storage disease 0" RELATED [OMIM:240600] +synonym: "hypoglycemia with deficiency of glycogen synthetase in the liver" RELATED [GARD:0002889] +synonym: "liver glycogen storage disease 0" RELATED [] synonym: "liver glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "liver glycogen synthase deficiency" RELATED [OMIM:240600] +synonym: "liver glycogen synthase deficiency" RELATED [] synonym: "liver GSD 0" RELATED [GARD:0002513] xref: GARD:2513 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:2089", source="Orphanet:2089/ntbt", source="Orphanet:2089/inclusion"} @@ -202196,10 +202226,10 @@ name: hypoglycemia, leucine-induced synonym: "familial infantile hypoglycemia precipitated by leucine" RELATED [GARD:0009915] synonym: "hypoglycemia leucine induced" RELATED [GARD:0009915] synonym: "hypoglycemia leucine-induced" RELATED [GARD:0009915] -synonym: "hypoglycemia of infancy, leucine-sensitive" EXACT [OMIM:240800, OMIM:genemap2] +synonym: "hypoglycemia of infancy, leucine-sensitive" EXACT [] synonym: "hypoglycemia, leucine-induced" EXACT [MONDO:Lexical, OMIM:240800] -synonym: "leucine-sensitive hypoglycemia of infancy" RELATED [OMIM:240800] -synonym: "LIH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240800] +synonym: "leucine-sensitive hypoglycemia of infancy" RELATED [] +synonym: "LIH" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0112262 {source="MONDO:equivalentTo"} xref: MEDGEN:82888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537150 {source="MONDO:equivalentTo"} @@ -202219,8 +202249,8 @@ subset: ordo_disorder {source="Orphanet:293964"} subset: orphanet_rare {source="Orphanet:293964"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HIHGHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:240900] -synonym: "hypoinsulinemic hypoglycemia with hemihypertrophy" RELATED [MONDO:Lexical, OMIM:240900] +synonym: "HIHGHH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypoinsulinemic hypoglycemia with hemihypertrophy" RELATED [MONDO:Lexical] xref: DOID:0112263 {source="MONDO:equivalentTo"} xref: GARD:17352 {source="MONDO:GARD"} xref: MEDGEN:480014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -202241,9 +202271,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2410"} subset: orphanet_rare {source="Orphanet:2410"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cataracts and testicular failure" RELATED [OMIM:240950] +synonym: "cataracts and testicular failure" RELATED [] synonym: "hypogonadism cataract syndrome" RELATED [GARD:0000298] -synonym: "hypogonadism-cataract syndrome" RELATED [OMIM:240950] +synonym: "hypogonadism-cataract syndrome" RELATED [] synonym: "Lubinsky syndrome" EXACT [Orphanet:2410] xref: GARD:298 {source="MONDO:GARD"} xref: ICD10CM:E29.1 {source="Orphanet:2410", source="Orphanet:2410/attributed", source="Orphanet:2410/ntbt"} @@ -202276,16 +202306,16 @@ subset: ordo_disorder {source="Orphanet:3464"} subset: orphanet_rare {source="Orphanet:3464"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diabetes-hypogonadism-deafness-intellectual disability syndrome" EXACT [Orphanet:3464] -synonym: "extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia" RELATED [OMIM:241080] -synonym: "extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia" RELATED DEPRECATED [OMIM:241080] -synonym: "hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome" RELATED [OMIM:241080] -synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome" RELATED DEPRECATED [OMIM:241080] +synonym: "diabetes-hypogonadism-deafness-intellectual disability syndrome" EXACT [DOID:0112264, Orphanet:3464] +synonym: "extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia" RELATED [] +synonym: "extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia" RELATED DEPRECATED [] +synonym: "hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome" RELATED [] +synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome" RELATED DEPRECATED [] synonym: "hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities" RELATED [GARD:0005592] synonym: "hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities" RELATED DEPRECATED [GARD:0005592] synonym: "woodhouse Sakati syndrome" RELATED [GARD:0005592] -synonym: "Woodhouse-Sakati syndrome" EXACT CLINGEN_LABEL [] -synonym: "woodhouse-Sakati syndrome" EXACT [OMIM:241080] +synonym: "Woodhouse-Sakati syndrome" EXACT CLINGEN_LABEL [DOID:0112264, icd11.foundation:1893572805, OMIM:241080, Orphanet:3464] +synonym: "woodhouse-Sakati syndrome" EXACT [DOID:0112264, icd11.foundation:1893572805, OMIM:241080, Orphanet:3464] xref: DOID:0112264 {source="MONDO:equivalentTo"} xref: GARD:5592 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3464", source="Orphanet:3464/attributed", source="Orphanet:3464/ntbt"} @@ -202319,7 +202349,7 @@ subset: orphanet_rare {source="Orphanet:2232"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Al Awadi-Farag-Teebi syndrome" EXACT [Orphanet:2232] -synonym: "hypergonadotropic hypogonadism and partial alopecia" RELATED [OMIM:241090] +synonym: "hypergonadotropic hypogonadism and partial alopecia" RELATED [] xref: GARD:16588 {source="MONDO:GARD"} xref: ICD10CM:E28.3 {source="Orphanet:2232", source="MONDO:relatedTo", source="Orphanet:2232/attributed", source="Orphanet:2232/btnt"} xref: ICD10CM:E29.1 {source="Orphanet:2232", source="Orphanet:2232/attributed", source="Orphanet:2232/btnt"} @@ -202335,8 +202365,8 @@ is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic id: MONDO:0009421 name: hypogonadism, male comment: Editor note: check OMIM -synonym: "hypogonadism and testicular atrophy" RELATED [OMIM:241100] -synonym: "hypogonadism, male" EXACT [OMIM:241100, OMIM:307300] +synonym: "hypogonadism and testicular atrophy" RELATED [] +synonym: "hypogonadism, male" EXACT [OMIM:241100] xref: ICD9:257.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:57480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:241100 {source="MONDO:equivalentTo"} @@ -202349,7 +202379,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009422 name: hypohidrosis with abnormal palmar dermal Ridges synonym: "hypohidrosis with abnormal palmar dermal Ridges" EXACT [OMIM:241120] -synonym: "sweat gland hypoplasia" RELATED [OMIM:241120] +synonym: "sweat gland hypoplasia" RELATED [] xref: MEDGEN:340989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565481 {source="MONDO:equivalentTo"} xref: OMIM:241120 {source="MONDO:equivalentTo"} @@ -202360,8 +202390,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0009423 name: hypokalemic alkalosis, familial, with specific renal tubulopathy subset: clingen {source="MONDO:CLINGEN"} -synonym: "Gullner syndrome" RELATED [OMIM:241150] -synonym: "hypokalemia, familial" RELATED [OMIM:241150] +synonym: "Gullner syndrome" RELATED [] +synonym: "hypokalemia, familial" RELATED [] synonym: "hypokalemic alkalosis, familial, with specific renal tubulopathy" EXACT [OMIM:241150] xref: MEDGEN:78677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562654 {source="MONDO:equivalentTo"} @@ -202379,20 +202409,20 @@ subset: gard_rare {source="GARD:22483", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:620220"} subset: rare -synonym: "BARTS2" EXACT ABBREVIATION [DOID:0110143] -synonym: "Bartter disease type 2" EXACT CLINGEN_LABEL [] +synonym: "BARTS2" EXACT ABBREVIATION [DOID:0110143, OMIM:241200] +synonym: "Bartter disease type 2" EXACT CLINGEN_LABEL [DOID:0110143] synonym: "Bartter syndrome antenatal type 2" RELATED [GARD:0009658] synonym: "Bartter syndrome caused by mutation in KCNJ1" EXACT [MONDO:design_pattern] synonym: "Bartter syndrome type 2" EXACT [DOID:0110143, Orphanet:620220] synonym: "Bartter syndrome type 2 antenatal" EXACT [DOID:0110143] -synonym: "Bartter syndrome, antenatal, type 2" RELATED [OMIM:241200] -synonym: "Bartter syndrome, type 2" EXACT [OMIM:241200, OMIM:genemap2] -synonym: "Bartter syndrome, type 2, antenatal" RELATED [OMIM:241200] +synonym: "Bartter syndrome, antenatal, type 2" RELATED [] +synonym: "Bartter syndrome, type 2" EXACT [] +synonym: "Bartter syndrome, type 2, antenatal" RELATED [] synonym: "hyperprostaglandin E syndrome 2" EXACT [DOID:0110143, OMIM:241200] synonym: "hypokalemic alkalosis with hypercalciuria 2 antenatal" EXACT [DOID:0110143] -synonym: "hypokalemic alkalosis with hypercalciuria 2, antenatal" RELATED [OMIM:241200] +synonym: "hypokalemic alkalosis with hypercalciuria 2, antenatal" RELATED [] synonym: "hypokalemic alkalosis with hypercalciuria antenatal 2" RELATED [GARD:0009658] -synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 2" RELATED [OMIM:241200] +synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 2" RELATED [] synonym: "KCNJ1 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110143 {source="MONDO:equivalentTo"} xref: GARD:22483 {source="MONDO:GARD"} @@ -202422,7 +202452,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1790"} subset: orphanet_rare {source="Orphanet:1790"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypomandibular faciocranial dysostosis" EXACT [OMIM:241310] +synonym: "hypomandibular faciocranial dysostosis" EXACT [OMIM:241310, Orphanet:1790] xref: GARD:2907 {source="MONDO:GARD"} xref: ICD10CM:Q75.4 {source="Orphanet:1790/attributed", source="Orphanet:1790/ntbt", source="Orphanet:1790"} xref: MEDGEN:343427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -202446,20 +202476,20 @@ subset: ordo_malformation_syndrome {source="Orphanet:2323"} subset: orphanet_rare {source="Orphanet:2323"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:241410] +synonym: "HRD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HRD syndrome" EXACT [DOID:0060348, Orphanet:2323] -synonym: "HRDS" EXACT ABBREVIATION [NCIT:C133727] -synonym: "hypoparathyroidism with short stature, intellectual disability and seizures" EXACT [DOID:0060348, GARD:0000411] -synonym: "hypoparathyroidism with short stature, intellectual disability, and seizures" RELATED [OMIM:241410] +synonym: "HRDS" EXACT ABBREVIATION [NCIT:C133727, OMIM:241410] +synonym: "hypoparathyroidism with short stature, intellectual disability and seizures" EXACT [GARD:0000411] +synonym: "hypoparathyroidism with short stature, intellectual disability, and seizures" RELATED [] synonym: "hypoparathyroidism with short stature, mental retardation and seizures" EXACT DEPRECATED [DOID:0060348] -synonym: "hypoparathyroidism with short stature, mental retardation, and seizures" RELATED DEPRECATED [OMIM:241410] +synonym: "hypoparathyroidism with short stature, mental retardation, and seizures" RELATED DEPRECATED [] synonym: "hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay" RELATED [GARD:0000411] -synonym: "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay" RELATED [OMIM:241410] +synonym: "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay" RELATED [] synonym: "hypoparathyroidism-intellectual disability-dysmorphism syndrome" EXACT [Orphanet:2323] -synonym: "hypoparathyroidism-retardation-dysmorphism syndrome" EXACT [MONDO:Lexical, OMIM:241410] +synonym: "hypoparathyroidism-retardation-dysmorphism syndrome" EXACT [DOID:0060348, MONDO:Lexical, NCIT:C133727, OMIM:241410] synonym: "hypoparathyroidism-short stature-intellectual disability-seizures syndrome" EXACT [Orphanet:2323] synonym: "Richardson-Kirk syndrome" EXACT [Orphanet:2323] -synonym: "Sanjad-Sakati syndrome" EXACT [DOID:0060348, OMIM:241410] +synonym: "Sanjad-Sakati syndrome" EXACT [DOID:0060348, NCIT:C133727, OMIM:241410, Orphanet:2323] synonym: "SSS" EXACT ABBREVIATION [Orphanet:2323] xref: DOID:0060348 {source="MONDO:equivalentTo"} xref: GARD:411 {source="MONDO:GARD"} @@ -202486,13 +202516,13 @@ name: obsolete infantile hypophosphatasia def: "OBSOLETE. Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization." [Orphanet:247651] subset: clingen {source="MONDO:CLINGEN"} subset: ordo_subtype_of_a_disorder {source="Orphanet:247651"} -synonym: "HOPS" EXACT ABBREVIATION [DOID:0110914, OMIM:241500] -synonym: "hypophosphatasia, infantile" RELATED [OMIM:241500] -synonym: "hypophosphatasia, perinatal lethal" RELATED [OMIM:241500] -synonym: "infantile phosphoethanolaminuria" EXACT [Orphanet:247651] -synonym: "infantile Rathburn disease" EXACT [Orphanet:247651] +synonym: "HOPS" EXACT ABBREVIATION [] +synonym: "hypophosphatasia, infantile" RELATED [] +synonym: "hypophosphatasia, perinatal lethal" RELATED [] +synonym: "infantile phosphoethanolaminuria" EXACT [] +synonym: "infantile Rathburn disease" EXACT [] synonym: "obsolete infantile hypophosphatasia" EXACT CLINGEN_LABEL [] -synonym: "phosphoethanolaminuria" RELATED EXCLUDE [DOID:0110914] +synonym: "phosphoethanolaminuria" RELATED EXCLUDE [] xref: DOID:0110914 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247651/attributed", source="Orphanet:247651/ntbt", source="Orphanet:247651"} xref: OMIM:241500 {source="MONDO:obsoleteEquivalent", source="Orphanet:247651/e", source="DOID:0110914", source="Orphanet:247651"} @@ -202516,10 +202546,10 @@ def: "OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophos subset: clingen {source="MONDO:CLINGEN"} subset: ordo_subtype_of_a_disorder {source="Orphanet:247667"} synonym: "childhood-onset hypophosphatasia" RELATED [GARD:0008735] -synonym: "childhood-onset phosphoethanolaminuria" EXACT [Orphanet:247667] -synonym: "childhood-onset Rathburn disease" EXACT [Orphanet:247667] +synonym: "childhood-onset phosphoethanolaminuria" EXACT [] +synonym: "childhood-onset Rathburn disease" EXACT [] synonym: "hypophosphatasia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "hypophosphatasia, childhood" RELATED [OMIM:241510] +synonym: "hypophosphatasia, childhood" RELATED [] synonym: "obsolete childhood hypophosphatasia" EXACT CLINGEN_LABEL [] synonym: "pediatric hypophosphatasia" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] xref: DOID:0110915 {source="MONDO:obsoleteEquivalent"} @@ -202555,14 +202585,14 @@ def: "Any autosomal recessive hypophosphatemic rickets in which the cause of the subset: gard_rare {source="GARD:18416", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Arhr" RELATED [OMIM:241520] -synonym: "ARHR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:241520] +synonym: "Arhr" RELATED [] +synonym: "ARHR1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "autosomal recessive hypophosphatemic rickets caused by mutation in DMP1" EXACT [MONDO:design_pattern] synonym: "DMP1 autosomal recessive hypophosphatemic rickets" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hypophosphatemia, autosomal recessive" RELATED [OMIM:241520] -synonym: "hypophosphatemic rickets, AR" EXACT [OMIM:241520, OMIM:genemap2] +synonym: "hypophosphatemia, autosomal recessive" RELATED [] +synonym: "hypophosphatemic rickets, AR" EXACT [] synonym: "hypophosphatemic rickets, autosomal recessive, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:241520] -synonym: "hypophosphatemic rickets, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:241520] +synonym: "hypophosphatemic rickets, autosomal recessive, type 1" EXACT [MONDORULE:1] xref: GARD:18416 {source="MONDO:GARD"} xref: MEDGEN:1632314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562792 {source="MONDO:equivalentTo"} @@ -202589,12 +202619,12 @@ subset: ordo_disorder {source="Orphanet:157215"} subset: orphanet_rare {source="Orphanet:157215"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HHRH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:241530, Orphanet:157215] +synonym: "HHRH" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C131450, OMIM:241530, Orphanet:157215] synonym: "hypercalciuric hypophosphatemic rickets" EXACT [NCIT:C131450] -synonym: "hypercalciuric rickets" RELATED [OMIM:241530] +synonym: "hypercalciuric rickets" RELATED [] synonym: "hypophosphatemic hypercalciuric rickets" EXACT [NCIT:C131450] -synonym: "hypophosphatemic rickets with hypercalciuria" EXACT [OMIM:241530, OMIM:genemap2] -synonym: "hypophosphatemic rickets with hypercalciuria, hereditary" RELATED [MONDO:Lexical, OMIM:241530] +synonym: "hypophosphatemic rickets with hypercalciuria" EXACT [] +synonym: "hypophosphatemic rickets with hypercalciuria, hereditary" RELATED [MONDO:Lexical] xref: DOID:0050947 {source="MONDO:equivalentTo"} xref: GARD:16977 {source="MONDO:GARD"} xref: ICD10CM:E83.3 {source="Orphanet:157215/attributed", source="Orphanet:157215/ntbt", source="MONDO:relatedTo", source="Orphanet:157215"} @@ -202634,11 +202664,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GJA1 hypoplastic left heart syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HLHS" BROAD ABBREVIATION [OMIM:241550] -synonym: "HLHS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:241550] +synonym: "HLHS" BROAD ABBREVIATION [] +synonym: "HLHS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hypoplastic left heart syndrome 1" EXACT [MONDO:Lexical, OMIM:241550] synonym: "hypoplastic left heart syndrome caused by mutation in GJA1" EXACT [MONDO:design_pattern] -synonym: "hypoplastic left heart syndrome type 1" EXACT [MONDORULE:1, OMIM:241550] +synonym: "hypoplastic left heart syndrome type 1" EXACT [MONDORULE:1] xref: MEDGEN:1646779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:241550 {source="MONDO:equivalentTo", source="Orphanet:2248"} xref: UMLS:C4551854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1646779"} @@ -202652,11 +202682,11 @@ id: MONDO:0009434 name: hypoproteinemia, hypercatabolic subset: gard_rare {source="GARD:15185", source="MONDO:GARD"} subset: rare -synonym: "B2M deficiency" RELATED [OMIM:241600] -synonym: "Beta-2-microglobulin deficiency" RELATED [OMIM:241600] +synonym: "B2M deficiency" RELATED [] +synonym: "Beta-2-microglobulin deficiency" RELATED [] synonym: "hypoproteinemia, hypercatabolic" EXACT [OMIM:241600] -synonym: "IMD43" RELATED ABBREVIATION [OMIM:241600] -synonym: "immunodeficiency 43" RELATED [OMIM:241600] +synonym: "IMD43" RELATED ABBREVIATION [] +synonym: "immunodeficiency 43" RELATED [] xref: DOID:0111981 {source="MONDO:equivalentTo"} xref: GARD:15185 {source="MONDO:GARD"} xref: MEDGEN:343422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -202683,8 +202713,8 @@ synonym: "hypospadias intellectual disability Goldblatt type" RELATED [GARD:0002 synonym: "hypospadias intellectual disability syndrome" RELATED [GARD:0002928] synonym: "hypospadias mental retardation Goldblatt type" RELATED DEPRECATED [GARD:0002928] synonym: "hypospadias mental retardation syndrome" RELATED DEPRECATED [GARD:0002928] -synonym: "hypospadias-intellectual disability syndrome" RELATED [OMIM:241760] -synonym: "hypospadias-mental retardation syndrome" RELATED DEPRECATED [OMIM:241760] +synonym: "hypospadias-intellectual disability syndrome" RELATED [] +synonym: "hypospadias-mental retardation syndrome" RELATED DEPRECATED [] xref: GARD:2928 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2261/attributed", source="Orphanet:2261/ntbt", source="Orphanet:2261"} xref: MEDGEN:162896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -202707,12 +202737,12 @@ def: "Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur subset: gard_rare {source="GARD:2934", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital hypothalamic hamartoma syndrome" EXACT [OMIM:241800] +synonym: "congenital hypothalamic hamartoma syndrome" EXACT [icd11.foundation:2057991470] synonym: "hamartoma of hypothalamus" EXACT [NCIT:C4385] synonym: "hamartoma of the hypothalamus" RELATED [GARD:0002934] synonym: "hypothalamic hamartoma" EXACT [NCIT:C4385] -synonym: "hypothalamic hamartomas" EXACT [OMIM:241800] -synonym: "Pallister-Hall-like syndrome" EXACT [OMIM:241800, OMIM:genemap2] +synonym: "hypothalamic hamartomas" EXACT [] +synonym: "Pallister-Hall-like syndrome" EXACT [OMIM:241800] xref: GARD:2934 {source="MONDO:GARD"} xref: icd11.foundation:2057991470 {source="MONDO:equivalentTo"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -202742,11 +202772,11 @@ subset: orphanet_rare {source="Orphanet:1226"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Athyroidal hypothyroidism-spiky hair-cleft palate syndrome" EXACT [Orphanet:1226] -synonym: "Bamforth syndrome" EXACT [Orphanet:1226] -synonym: "Bamforth-Lazarus syndrome" EXACT CLINGEN_LABEL [OMIM:241850] +synonym: "Bamforth syndrome" EXACT [icd11.foundation:1747690671, OMIM:241850, Orphanet:1226] +synonym: "Bamforth-Lazarus syndrome" EXACT CLINGEN_LABEL [DOID:0050655, icd11.foundation:1747690671, OMIM:241850, Orphanet:1226] synonym: "hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate" RELATED [GARD:0000414] synonym: "hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate" EXACT [DOID:0050655] -synonym: "hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate" RELATED [OMIM:241850] +synonym: "hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate" RELATED [] synonym: "hypothyroidism-cleft palate syndrome" EXACT [Orphanet:1226] xref: DOID:0050655 {source="MONDO:equivalentTo"} xref: GARD:414 {source="MONDO:GARD"} @@ -202785,17 +202815,17 @@ def: "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene subset: gard_rare {source="GARD:15187", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ARCI2" EXACT ABBREVIATION [DOID:0060710, MONDO:Lexical, OMIM:242100] -synonym: "autosomal recessive congenital ichthyosis type 2" EXACT [DOID:0060710, MONDORULE:1] +synonym: "ARCI2" EXACT ABBREVIATION [DOID:0060710, MONDO:Lexical, NCIT:C132827, OMIM:242100] +synonym: "autosomal recessive congenital ichthyosis type 2" EXACT [MONDORULE:1] synonym: "Brocq congenital ichthyosiform erythroderma nonbullous form" EXACT [DOID:0060710] -synonym: "collodion baby, self-healing" RELATED [OMIM:242100] -synonym: "ichthyosiform erythroderma, Brocq congenital, nonbullous form" RELATED [OMIM:242100] -synonym: "ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly" RELATED [OMIM:242100] +synonym: "collodion baby, self-healing" RELATED [] +synonym: "ichthyosiform erythroderma, Brocq congenital, nonbullous form" RELATED [] +synonym: "ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly" RELATED [] synonym: "ichthyosiform erythroderma, congenital, nonbullous, 1" RELATED [GARD:0009736] -synonym: "ichthyosiform erythroderma, nonbullous congenital, 1" RELATED [OMIM:242100] -synonym: "ichthyosiform erythroderma, nonbullous congenital, 1, formerly" RELATED [OMIM:242100] -synonym: "ichthyosis, congenital, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:242100] -synonym: "ichthyosis, congenital, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:242100] +synonym: "ichthyosiform erythroderma, nonbullous congenital, 1" RELATED [] +synonym: "ichthyosiform erythroderma, nonbullous congenital, 1, formerly" RELATED [] +synonym: "ichthyosis, congenital, autosomal recessive 2" RELATED [MONDO:Lexical] +synonym: "ichthyosis, congenital, autosomal recessive type 2" EXACT [MONDORULE:1] synonym: "NBCIE" RELATED ABBREVIATION [GARD:0009736] synonym: "NCIE" RELATED ABBREVIATION [GARD:0009736] synonym: "NCIE1" EXACT ABBREVIATION [DOID:0060710] @@ -202825,11 +202855,11 @@ subset: gard_rare {source="GARD:2946", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Desmons syndrome" RELATED [OMIM:242150] -synonym: "ichthyosiform erythroderma, corneal involvement, and deafness" NARROW [OMIM:242150] +synonym: "Desmons syndrome" RELATED [] +synonym: "ichthyosiform erythroderma, corneal involvement, and deafness" NARROW [] synonym: "ichthyosiform erythroderma, corneal involvement, deafness" RELATED [GARD:0002946] -synonym: "keratitis-ichthyosis-deafness syndrome, autosomal recessive" RELATED [OMIM:242150] -synonym: "KID syndrome, autosomal recessive" RELATED [OMIM:242150] +synonym: "keratitis-ichthyosis-deafness syndrome, autosomal recessive" RELATED [] +synonym: "KID syndrome, autosomal recessive" RELATED [] xref: GARD:2946 {source="MONDO:GARD"} xref: MEDGEN:224809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537363 {source="MONDO:equivalentTo"} @@ -202849,22 +202879,22 @@ subset: gard_rare {source="GARD:3170", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARCI1" EXACT ABBREVIATION [DOID:0060656, MONDO:Lexical, OMIM:242300] -synonym: "autosomal recessive congenital ichthyosis 1" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive congenital ichthyosis type 1" EXACT [DOID:0060656, MONDORULE:1] +synonym: "autosomal recessive congenital ichthyosis 1" EXACT CLINGEN_LABEL [DOID:0060656] +synonym: "autosomal recessive congenital ichthyosis type 1" EXACT [MONDORULE:1] synonym: "bathing suit ichthyosis" NARROW [DOID:0060656] -synonym: "collodion baby, self-healing" RELATED [OMIM:242300] -synonym: "collodion fetus" RELATED [GARD:0003170, OMIM:242300] +synonym: "collodion baby, self-healing" RELATED [] +synonym: "collodion fetus" RELATED [GARD:0003170] synonym: "collodion foetus" RELATED OMO:0003005 [] -synonym: "desquamation of newborn" RELATED [GARD:0003170, OMIM:242300] -synonym: "ichthyosis congenita" RELATED [GARD:0003170, OMIM:242300] -synonym: "ichthyosis congenita 2" RELATED [OMIM:242300] +synonym: "desquamation of newborn" RELATED [GARD:0003170] +synonym: "ichthyosis congenita" RELATED [GARD:0003170] +synonym: "ichthyosis congenita 2" RELATED [] synonym: "ichthyosis lamellar 1" RELATED [GARD:0003170] -synonym: "ichthyosis, congenital, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:242300] -synonym: "ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution" RELATED [OMIM:242300] -synonym: "ichthyosis, congenital, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:242300] -synonym: "ichthyosis, lamellar, 1" RELATED [OMIM:242300] -synonym: "ichthyosis, lamellar, 1, formerly" RELATED [OMIM:242300] -synonym: "lamellar exfoliation of newborn" RELATED [GARD:0003170, OMIM:242300] +synonym: "ichthyosis, congenital, autosomal recessive 1" RELATED [MONDO:Lexical] +synonym: "ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution" RELATED [] +synonym: "ichthyosis, congenital, autosomal recessive type 1" EXACT [MONDORULE:1] +synonym: "ichthyosis, lamellar, 1" RELATED [] +synonym: "ichthyosis, lamellar, 1, formerly" RELATED [] +synonym: "lamellar exfoliation of newborn" RELATED [GARD:0003170] synonym: "lamellar ichthyosis, type 1" RELATED [GARD:0003170] synonym: "LI1" RELATED ABBREVIATION [GARD:0003170] xref: DOID:0060656 {source="MONDO:equivalentTo"} @@ -202910,23 +202940,24 @@ subset: ordo_disorder {source="Orphanet:457"} subset: orphanet_rare {source="Orphanet:457"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "'Harlequin fetus'" RELATED [OMIM:242500] +synonym: "'Harlequin fetus'" RELATED [] synonym: "ARCI4B" EXACT ABBREVIATION [DOID:0060713, MONDO:Lexical, OMIM:242500] -synonym: "autosomal recessive congenital ichthyosis type 4B" EXACT [DOID:0060713, MONDORULE:4] +synonym: "autosomal recessive congenital ichthyosis type 4B" EXACT [MONDORULE:4] synonym: "Harlequin fetus" RELATED [GARD:0006568] synonym: "Harlequin foetus" RELATED OMO:0003005 [] -synonym: "Harlequin Ichthyosis" EXACT [NORD:1287] -synonym: "harlequin ichthyosis" EXACT [DOID:0060713] +synonym: "Harlequin Ichthyosis" EXACT [DOID:0060713, NCIT:C98934, NORD:1287, OMIM:242500, Orphanet:457] +synonym: "harlequin ichthyosis" EXACT [DOID:0060713, NCIT:C98934, OMIM:242500, Orphanet:457] synonym: "harlequin type ichthyosis congenita" EXACT [DOID:0060713] synonym: "harlequin type ichthyosis fetalis" EXACT [DOID:0060713] -synonym: "hi" EXACT [Orphanet:457] -synonym: "ichthyosis , congenital, autosomal recessive 4b (harlequin)" EXACT [OMIM:242500, OMIM:genemap2] -synonym: "ichthyosis congenita, Harlequin fetus type" RELATED [OMIM:242500] +synonym: "HI" EXACT ABBREVIATION [Orphanet:457] +synonym: "hi" EXACT [] +synonym: "ichthyosis , congenital, autosomal recessive 4b (harlequin)" EXACT [] +synonym: "ichthyosis congenita, Harlequin fetus type" RELATED [] synonym: "ichthyosis congenita, Harlequin foetus type" RELATED OMO:0003005 [] synonym: "ichthyosis congenita, Harlequin type" EXACT [Orphanet:457] -synonym: "ichthyosis fetalis, Harlequin type" EXACT [Orphanet:457] -synonym: "ichthyosis, congenital, autosomal recessive 4B" RELATED [MONDO:Lexical, OMIM:242500] -synonym: "ichthyosis, congenital, autosomal recessive type 4B" EXACT [MONDORULE:4, OMIM:242500] +synonym: "ichthyosis fetalis, Harlequin type" EXACT [] +synonym: "ichthyosis, congenital, autosomal recessive 4B" RELATED [MONDO:Lexical] +synonym: "ichthyosis, congenital, autosomal recessive type 4B" EXACT [MONDORULE:4] xref: DOID:0060713 {source="MONDO:equivalentTo"} xref: GARD:6568 {source="MONDO:GARD"} xref: ICD10CM:Q80.4 {source="Orphanet:457", source="Orphanet:457/e", source="DOID:0060713", source="Orphanet:457/specific"} @@ -202958,8 +202989,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ichthyosis alopecia eclabion ectropion intellectual disability" RELATED [GARD:0000292] synonym: "ichthyosis alopecia eclabion ectropion mental retardation" RELATED DEPRECATED [GARD:0000292] -synonym: "ichthyosis with alopecia, eclabium, ectropion, and intellectual disability" RELATED [OMIM:242510] -synonym: "ichthyosis with alopecia, eclabium, ectropion, and mental retardation" RELATED DEPRECATED [OMIM:242510] +synonym: "ichthyosis with alopecia, eclabium, ectropion, and intellectual disability" RELATED [] +synonym: "ichthyosis with alopecia, eclabium, ectropion, and mental retardation" RELATED DEPRECATED [] synonym: "Jagell Holmgren Hofer syndrome" RELATED [GARD:0000292] synonym: "Jagell-Holmgren-Hofer syndrome" EXACT [Orphanet:2269] xref: GARD:292 {source="MONDO:GARD"} @@ -202982,9 +203013,9 @@ subset: orphanet_rare {source="Orphanet:2274"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Dykes Markes Harper syndrome" RELATED [GARD:0001993] -synonym: "Dykes-Markes-Harper syndrome" EXACT [Orphanet:2274] +synonym: "Dykes-Markes-Harper syndrome" EXACT [] synonym: "Dykes-Marks-Harper syndrome" EXACT [Orphanet:2274] -synonym: "ichthyosis, hepatosplenomegaly, and cerebellar degeneration" RELATED [OMIM:242520] +synonym: "ichthyosis, hepatosplenomegaly, and cerebellar degeneration" RELATED [] xref: GARD:1993 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2274/attributed", source="Orphanet:2274/ntbt", source="Orphanet:2274"} xref: ICD9:571.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -203011,9 +203042,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ichthyosis intellectual deficit dwarfism renal impairment" RELATED [GARD:0004641] synonym: "ichthyosis, intellectual disability, dwarfism and renal impairment" RELATED [GARD:0004641] -synonym: "ichthyosis, intellectual disability, dwarfism, and renal impairment" RELATED [OMIM:242530] +synonym: "ichthyosis, intellectual disability, dwarfism, and renal impairment" RELATED [] synonym: "ichthyosis, mental retardation, dwarfism and renal impairment" RELATED DEPRECATED [GARD:0004641] -synonym: "ichthyosis, mental retardation, dwarfism, and renal impairment" RELATED DEPRECATED [OMIM:242530] +synonym: "ichthyosis, mental retardation, dwarfism, and renal impairment" RELATED DEPRECATED [] synonym: "Passwell-Goodman-Siprkowski syndrome" EXACT [Orphanet:2278] xref: GARD:4641 {source="MONDO:GARD"} xref: MEDGEN:340966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -203048,8 +203079,8 @@ subset: ordo_disorder {source="Orphanet:42062"} subset: orphanet_rare {source="Orphanet:42062"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "iminoglycinuria" EXACT CLINGEN_LABEL [OMIM:242600] -synonym: "iminoglycinuria, digenic" EXACT [OMIM:242600, OMIM:genemap2] +synonym: "iminoglycinuria" EXACT CLINGEN_LABEL [DOID:0112265, icd11.foundation:664428532, OMIM:242600, Orphanet:42062] +synonym: "iminoglycinuria, digenic" EXACT [] xref: DOID:0112265 {source="MONDO:equivalentTo"} xref: GARD:8424 {source="MONDO:GARD"} xref: ICD10CM:E72.0 {source="Orphanet:42062/attributed", source="Orphanet:42062/ntbt", source="Orphanet:42062"} @@ -203074,7 +203105,7 @@ subset: gard_rare {source="GARD:2981", source="MONDO:GARD"} subset: rare synonym: "cilia with defective radial spokes" RELATED [GARD:0002981] synonym: "ciliary dyskinesia with defective radial spokes" EXACT [OMIM:242670] -synonym: "immotile cilia syndrome due to defective radial spokes" RELATED [OMIM:242670] +synonym: "immotile cilia syndrome due to defective radial spokes" RELATED [] synonym: "immotile cilia syndrome, due to defective radial spokes" RELATED [GARD:0002981] xref: GARD:2981 {source="MONDO:GARD"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -203092,7 +203123,7 @@ name: ciliary dyskinesia with excessively long cilia subset: gard_rare {source="GARD:2982", source="MONDO:GARD"} subset: rare synonym: "ciliary dyskinesia with excessively long cilia" EXACT [OMIM:242680] -synonym: "immotile cilia syndrome due to excessively long cilia" RELATED [OMIM:242680] +synonym: "immotile cilia syndrome due to excessively long cilia" RELATED [] xref: GARD:2982 {source="MONDO:GARD"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:90947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -203114,11 +203145,11 @@ subset: orphanet_rare {source="Orphanet:83471"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "immune defect due to absence Of Thymus" RELATED [MESH:C536288] -synonym: "immune defect due to absence of THYMUS" RELATED [OMIM:242700] -synonym: "Nezelof syndrome" EXACT [OMIM:242700, Orphanet:83471] +synonym: "immune defect due to absence of THYMUS" RELATED [] +synonym: "Nezelof syndrome" EXACT [DOID:2012, icd11.foundation:215376282, OMIM:242700, Orphanet:83471] synonym: "Nezelof's syndrome" EXACT [DOID:2012, ICD9CM:279.13] -synonym: "T-lymphocyte deficiency" EXACT [DOID:2012, OMIM:242700] -synonym: "thymic aplasia" RELATED [OMIM:242700] +synonym: "T-lymphocyte deficiency" EXACT [OMIM:242700] +synonym: "thymic aplasia" RELATED [] xref: DOID:2012 {source="MONDO:equivalentTo"} xref: GARD:7201 {source="MONDO:GARD"} xref: ICD10CM:D81.4 {source="Orphanet:83471/specific", source="DOID:2012", source="Orphanet:83471/e", source="Orphanet:83471"} @@ -203144,15 +203175,15 @@ subset: orphanet_rare {source="Orphanet:1493"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "absent corpus callosum cataract immunodeficiency" RELATED [GARD:0000448] -synonym: "absent corpus callosum-cataract-immunodeficiency syndrome" EXACT [Orphanet:1493] +synonym: "absent corpus callosum-cataract-immunodeficiency syndrome" EXACT [] synonym: "corpus callosum agenesis-cataract-immunodeficiency syndrome" EXACT [Orphanet:1493] synonym: "Dionisi Vici Sabetta Gambarara syndrome" RELATED [GARD:0000448] synonym: "Dionisi-Vici-Sabetta-Gambarara syndrome" EXACT [Orphanet:1493] synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum" RELATED [GARD:0000448] -synonym: "immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum" RELATED [OMIM:242840] -synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT [DOID:0060356] -synonym: "Vici syndrome" EXACT [MONDO:Lexical, OMIM:242840] -synonym: "VICIS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:242840] +synonym: "immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum" RELATED [] +synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT [DOID:0060356, OMIM:242840] +synonym: "Vici syndrome" EXACT [DOID:0060356, MONDO:Lexical, NCIT:C138174, OMIM:242840, Orphanet:1493] +synonym: "VICIS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0060356 {source="MONDO:equivalentTo"} xref: GARD:448 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1493/attributed", source="Orphanet:1493/ntbt", source="Orphanet:1493"} @@ -203202,16 +203233,16 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15188", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "centromeric instability, immunodeficiency syndrome" RELATED [OMIM:242860] +synonym: "centromeric instability, immunodeficiency syndrome" RELATED [] synonym: "DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ICF syndrome 1" EXACT [DOID:0090008] -synonym: "ICF1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:242860] -synonym: "immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16" RELATED [OMIM:242860] -synonym: "immunodeficiency syndrome, variable" RELATED [OMIM:242860] -synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 1" EXACT [MONDO:Lexical, OMIM:242860] +synonym: "ICF1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16" RELATED [] +synonym: "immunodeficiency syndrome, variable" RELATED [] +synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 1" EXACT [DOID:0090008, MONDO:Lexical, NCIT:C156430, OMIM:242860] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B" EXACT [MONDO:design_pattern] -synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 1" EXACT [MONDORULE:1, OMIM:242860] -synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 1" EXACT [DOID:0090008, MONDORULE:1] +synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 1" EXACT [MONDORULE:1] +synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 1" EXACT [MONDORULE:1] xref: DOID:0090008 {source="MONDO:equivalentTo"} xref: GARD:15188 {source="MONDO:GARD"} xref: ICD10CM:D84.8 {source="DOID:0090008"} @@ -203231,7 +203262,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009455 name: obsolete immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes subset: obsoletion_candidate -synonym: "immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes" EXACT [OMIM:242870] +synonym: "immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes" EXACT [] xref: MEDGEN:340957 {source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN"} xref: MESH:C565468 {source="MONDO:obsoleteEquivalent"} xref: OMIM:242870 {source="MONDO:obsoleteEquivalentObsolete"} @@ -203254,7 +203285,7 @@ is_a: MONDO:0009973 ! reticular dysgenesis [Term] id: MONDO:0009457 name: immunoglobulin d level in plasma, low -synonym: "IMMUNOGLOBULIN D level in plasma, LOW" RELATED [OMIM:242890] +synonym: "IMMUNOGLOBULIN D level in plasma, LOW" RELATED [] xref: MEDGEN:344569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:242890 {source="MONDO:equivalentTo"} xref: UMLS:C1855761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:344569"} @@ -203272,14 +203303,14 @@ subset: orphanet_rare {source="Orphanet:1830"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "immunoosseous dysplasia Schimke type" EXACT [DOID:0060490] -synonym: "IMMUNOOSSEOUS dysplasia, Schimke type" RELATED [OMIM:242900] -synonym: "Schimke immuno-osseous dysplasia" EXACT CLINGEN_LABEL [] -synonym: "Schimke IMMUNOOSSEOUS dysplasia" RELATED [OMIM:242900] -synonym: "Schimke Immunoosseous dysplasia" RELATED [OMIM:242900] -synonym: "Schimke immunoosseous dysplasia" EXACT [DOID:0060490] -synonym: "Schimke syndrome" EXACT [DOID:0060490, Orphanet:1830] -synonym: "SIOD" RELATED ABBREVIATION [GARD:0004984, OMIM:242900] -synonym: "spondyloepiphyseal dysplasia - nephrotic syndrome" EXACT [DOID:0060490] +synonym: "IMMUNOOSSEOUS dysplasia, Schimke type" RELATED [] +synonym: "Schimke immuno-osseous dysplasia" EXACT CLINGEN_LABEL [DOID:0060490, icd11.foundation:2002226225, NCIT:C135087, Orphanet:1830] +synonym: "Schimke IMMUNOOSSEOUS dysplasia" RELATED [] +synonym: "Schimke Immunoosseous dysplasia" RELATED [] +synonym: "Schimke immunoosseous dysplasia" EXACT [DOID:0060490, NCIT:C135087, OMIM:242900] +synonym: "Schimke syndrome" EXACT [DOID:0060490, icd11.foundation:2002226225, Orphanet:1830] +synonym: "SIOD" RELATED ABBREVIATION [GARD:0004984] +synonym: "spondyloepiphyseal dysplasia - nephrotic syndrome" EXACT [DOID:0060490, icd11.foundation:2002226225] synonym: "spondyloepiphyseal dysplasia nephrotic syndrome" RELATED [GARD:0004984] synonym: "spondyloepiphyseal dysplasia-nephrotic syndrome" EXACT [Orphanet:1830] xref: DOID:0060490 {source="MONDO:equivalentTo"} @@ -203313,17 +203344,17 @@ subset: ordo_disorder {source="Orphanet:88642"} subset: orphanet_rare {source="Orphanet:88642"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "asymbolia for pain" RELATED [OMIM:243000] -synonym: "channelopathy-associated CIP" EXACT [Orphanet:88642] -synonym: "CIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243000] -synonym: "congenital analgesia, autosomal recessive" RELATED [OMIM:243000] -synonym: "HSAN2D" RELATED ABBREVIATION [OMIM:243000] -synonym: "HSAN2D, AR" RELATED [OMIM:243000] -synonym: "indifference to pain, congenital, autosomal recessive" RELATED [MONDO:Lexical, OMIM:243000] -synonym: "insensitivity to pain, channelopathy-associated" RELATED [OMIM:243000] -synonym: "insensitivity to pain, congenital" EXACT [OMIM:243000, OMIM:genemap2] -synonym: "neuropathy, hereditary sensory and autonomic, type 2D" RELATED [OMIM:243000] -synonym: "neuropathy, hereditary sensory and autonomic, type IID" EXACT [OMIM:243000, OMIM:genemap2] +synonym: "asymbolia for pain" RELATED [] +synonym: "channelopathy-associated CIP" EXACT [] +synonym: "CIP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "congenital analgesia, autosomal recessive" RELATED [] +synonym: "HSAN2D" RELATED ABBREVIATION [] +synonym: "HSAN2D, AR" RELATED [] +synonym: "indifference to pain, congenital, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "insensitivity to pain, channelopathy-associated" RELATED [] +synonym: "insensitivity to pain, congenital" EXACT [] +synonym: "neuropathy, hereditary sensory and autonomic, type 2D" RELATED [] +synonym: "neuropathy, hereditary sensory and autonomic, type IID" EXACT [] xref: GARD:12267 {source="MONDO:GARD"} xref: ICD10CM:G60.8 {source="Orphanet:88642", source="Orphanet:88642/attributed", source="Orphanet:88642/ntbt"} xref: MEDGEN:344563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -203344,7 +203375,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009460 name: indolylacroyl glycinuria with intellectual disability -synonym: "indolylacroyl glycinuria with intellectual disability" EXACT [OMIM:243050] +synonym: "indolylacroyl glycinuria with intellectual disability" EXACT [] synonym: "indolylacroyl glycinuria with mental retardation" EXACT DEPRECATED [OMIM:243050] xref: MEDGEN:340949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565466 {source="MONDO:equivalentTo"} @@ -203361,16 +203392,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:137893"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "infertility associated with multi-tailed spermatozoa and excessive DNA" RELATED [OMIM:243060] -synonym: "infertility associated with multitailed spermatozoa and excessive DNA" RELATED [OMIM:243060] -synonym: "macrocephalic sperm head syndrome" EXACT [Orphanet:137893] +synonym: "infertility associated with multi-tailed spermatozoa and excessive DNA" RELATED [] +synonym: "infertility associated with multitailed spermatozoa and excessive DNA" RELATED [] +synonym: "macrocephalic sperm head syndrome" EXACT [DOID:0070183, Orphanet:137893] synonym: "macrozoospermia" RELATED [GARD:0012385] synonym: "male infertility due to large-headed multiflagellar polyploid spermatozoa" EXACT [Orphanet:137893] -synonym: "male infertility due to macrozoospermia" EXACT [Orphanet:137893] -synonym: "male infertility with large-headed, multiflagellar, polyploid spermatozoa" EXACT [OMIM:243060] -synonym: "spermatogenic failure 5" EXACT [MONDO:Lexical, OMIM:243060] -synonym: "spermatogenic failure type 5" EXACT [MONDORULE:1, OMIM:243060] -synonym: "SPGF5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243060] +synonym: "male infertility due to macrozoospermia" EXACT [DOID:0070183, Orphanet:137893] +synonym: "male infertility with large-headed, multiflagellar, polyploid spermatozoa" EXACT [DOID:0070183, OMIM:243060] +synonym: "spermatogenic failure 5" EXACT [DOID:0070183, MONDO:Lexical, OMIM:243060] +synonym: "spermatogenic failure type 5" EXACT [MONDORULE:1] +synonym: "SPGF5" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070183 {source="MONDO:equivalentTo"} xref: GARD:12385 {source="MONDO:GARD"} xref: ICD10CM:N46 {source="Orphanet:137893/attributed", source="Orphanet:137893/ntbt", source="Orphanet:137893"} @@ -203410,8 +203441,8 @@ name: immunodeficiency with defective T-cell response to interleukin 1 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "immunodeficiency with defective T-cell response to interleukin 1" EXACT [OMIM:243110] -synonym: "immunodeficiency with defective T-cell response to Interleukin type 1" EXACT [MONDORULE:1, OMIM:243110] -synonym: "Interleukin 1, defective T-cell response to" RELATED [OMIM:243110] +synonym: "immunodeficiency with defective T-cell response to Interleukin type 1" EXACT [MONDORULE:1] +synonym: "Interleukin 1, defective T-cell response to" RELATED [] xref: MEDGEN:340948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:243110 {source="MONDO:equivalentTo"} xref: UMLS:C1855735 {source="MEDGEN:340948", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -203431,16 +203462,16 @@ subset: ordo_morphological_anomaly {source="Orphanet:2300"} subset: orphanet_rare {source="Orphanet:2300"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CID-MIA/early-onset IBD" RELATED [Orphanet:436252] -synonym: "combined immunodeficiency-enteropathy spectrum" RELATED [Orphanet:436252] -synonym: "familial intestinal polyatresia syndrome" RELATED [OMIM:243150, Orphanet:2300] -synonym: "gastrointestinal defects and immunodeficiency syndrome" RELATED [MONDO:Lexical, OMIM:243150] -synonym: "GIDID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243150] +synonym: "CID-MIA/early-onset IBD" RELATED [] +synonym: "combined immunodeficiency-enteropathy spectrum" RELATED [] +synonym: "familial intestinal polyatresia syndrome" RELATED [] +synonym: "gastrointestinal defects and immunodeficiency syndrome" RELATED [MONDO:Lexical] +synonym: "GIDID" RELATED ABBREVIATION [MONDO:Lexical] synonym: "intestinal atresia multiple" RELATED [GARD:0003013] -synonym: "intestinal atresia, multiple" RELATED [OMIM:243150] -synonym: "intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency" RELATED [OMIM:243150] +synonym: "intestinal atresia, multiple" RELATED [] +synonym: "intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency" RELATED [] synonym: "multiple gastrointestinal atresias" EXACT [DOID:14671] -synonym: "multiple intestinal atresia" EXACT CLINGEN_LABEL [] +synonym: "multiple intestinal atresia" EXACT CLINGEN_LABEL [DOID:14671, Orphanet:2300] xref: DOID:14671 {source="MONDO:equivalentTo"} xref: GARD:3013 {source="MONDO:GARD"} xref: ICD10CM:Q43.8 {source="Orphanet:2300", source="Orphanet:2300/attributed", source="Orphanet:2300/ntbt"} @@ -203476,7 +203507,7 @@ id: MONDO:0009467 name: natal teeth-intestinal pseudoobstruction-patent ductus syndrome subset: ordo_malformation_syndrome {source="Orphanet:1654"} subset: otar {source="MONDO:OTAR"} -synonym: "intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth" RELATED [OMIM:243185] +synonym: "intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth" RELATED [] synonym: "Natal teeth, intestinal pseudoobstruction and patent ductus" RELATED [GARD:0003928] xref: ICD10CM:Q87.8 {source="Orphanet:1654", source="Orphanet:1654/attributed", source="Orphanet:1654/ntbt"} xref: MEDGEN:340945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -203496,13 +203527,13 @@ subset: ordo_disorder {source="Orphanet:238624"} subset: orphanet_rare {source="Orphanet:238624"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "benign intracran. hypt." EXACT [DOID:11459] +synonym: "benign intracran. hypt." EXACT [] synonym: "benign intracranial hypertension" EXACT [DOID:11459, ICD9CM:348.2, Orphanet:238624] -synonym: "Idiopathic Intracranial Hypertension" EXACT [NORD:1294] -synonym: "idiopathic intracranial hypertension" EXACT [DOID:11459] +synonym: "Idiopathic Intracranial Hypertension" EXACT [DOID:11459, NCIT:C85035, NORD:1294, Orphanet:238624] +synonym: "idiopathic intracranial hypertension" EXACT [DOID:11459, NCIT:C85035, Orphanet:238624] synonym: "IIH" EXACT ABBREVIATION [Orphanet:238624] -synonym: "intracranial hypertension, idiopathic" RELATED [OMIM:243200] -synonym: "pseudotumor cerebri" EXACT [DOID:11459, OMIM:243200, Orphanet:238624] +synonym: "intracranial hypertension, idiopathic" RELATED [] +synonym: "pseudotumor cerebri" EXACT [DOID:11459, NCIT:C85035, OMIM:243200, Orphanet:238624] xref: DOID:11459 {source="EFO:1001132", source="MONDO:equivalentTo"} xref: EFO:1001132 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:4561 {source="MONDO:GARD"} @@ -203535,15 +203566,15 @@ subset: rare synonym: "ATP8B1 benign recurrent intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "benign recurrent intrahepatic cholestasis 1" RELATED [GARD:0010028] synonym: "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1" EXACT [MONDO:design_pattern] -synonym: "Bric type 1" EXACT [Orphanet:99960] -synonym: "BRIC1" EXACT ABBREVIATION [GARD:0010028, MONDO:Lexical, OMIM:243300, Orphanet:99960] -synonym: "cholestasis, benign recurrent intrahepatic" BROAD [OMIM:243300, OMIM:genemap2] +synonym: "Bric type 1" EXACT [DOID:0070231, Orphanet:99960] +synonym: "BRIC1" EXACT ABBREVIATION [DOID:0070231, GARD:0010028, MONDO:Lexical, OMIM:243300, Orphanet:99960] +synonym: "cholestasis, benign recurrent intrahepatic" BROAD [] synonym: "cholestasis, benign recurrent intrahepatic 1" RELATED [GARD:0010028] -synonym: "cholestasis, benign recurrent intrahepatic, 1" RELATED [MONDO:Lexical, OMIM:243300] -synonym: "cholestasis, benign recurrent intrahepatic, type 1" EXACT [MONDORULE:1, OMIM:243300] +synonym: "cholestasis, benign recurrent intrahepatic, 1" RELATED [MONDO:Lexical] +synonym: "cholestasis, benign recurrent intrahepatic, type 1" EXACT [MONDORULE:1] synonym: "mild ATP8B1 deficiency" RELATED [GARD:0010028] synonym: "recurrent familial intrahepatic cholestasis 1" RELATED [GARD:0010028] -synonym: "Summerskill syndrome" RELATED [GARD:0010028, OMIM:243300] +synonym: "Summerskill syndrome" RELATED [GARD:0010028] xref: DOID:0070231 {source="MONDO:equivalentTo"} xref: GARD:10028 {source="MONDO:GARD"} xref: ICD10CM:K83.1 {source="Orphanet:99960/attributed", source="Orphanet:99960/ntbt", source="Orphanet:99960"} @@ -203571,20 +203602,20 @@ subset: rare synonym: "ACTB Baraitser-Winter cerebrofrontofacial syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ACTB-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] synonym: "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB" EXACT [MONDO:design_pattern] -synonym: "Baraitser-WINTER syndrome 1" RELATED [OMIM:243310] -synonym: "Baraitser-Winter syndrome 1" EXACT [MONDO:Lexical, OMIM:243310] -synonym: "Baraitser-Winter syndrome type 1" EXACT [MONDORULE:1, OMIM:243310] -synonym: "BRWS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243310] +synonym: "Baraitser-WINTER syndrome 1" RELATED [] +synonym: "Baraitser-Winter syndrome 1" EXACT [DOID:0081112, MONDO:Lexical, OMIM:243310] +synonym: "Baraitser-Winter syndrome type 1" EXACT [MONDORULE:1] +synonym: "BRWS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "cerebrofrontofacial syndrome" EXACT [OMIM:243310] -synonym: "cerebrooculofacial lymphatic syndrome" RELATED [OMIM:243310] -synonym: "chromosome 7P22 deletion syndrome" RELATED [OMIM:243310] +synonym: "cerebrooculofacial lymphatic syndrome" RELATED [] +synonym: "chromosome 7P22 deletion syndrome" RELATED [] synonym: "Fryns-Aftimos syndrome" EXACT [OMIM:243310] -synonym: "intellectual disability with epilepsy and characteristic facies" RELATED [OMIM:243310] -synonym: "iris coloboma with ptosis, hypertelorism, and intellectual disability" RELATED [OMIM:243310] -synonym: "iris coloboma with ptosis, hypertelorism, and mental retardation" RELATED DEPRECATED [OMIM:243310] -synonym: "mental retardation with epilepsy and characteristic facies" RELATED DEPRECATED [OMIM:243310] -synonym: "pachygyria, intellectual disability, epilepsy, and characteristic facies" RELATED [OMIM:243310] -synonym: "pachygyria, mental retardation, epilepsy, and characteristic facies" RELATED DEPRECATED [OMIM:243310] +synonym: "intellectual disability with epilepsy and characteristic facies" RELATED [] +synonym: "iris coloboma with ptosis, hypertelorism, and intellectual disability" RELATED [] +synonym: "iris coloboma with ptosis, hypertelorism, and mental retardation" RELATED DEPRECATED [] +synonym: "mental retardation with epilepsy and characteristic facies" RELATED DEPRECATED [] +synonym: "pachygyria, intellectual disability, epilepsy, and characteristic facies" RELATED [] +synonym: "pachygyria, mental retardation, epilepsy, and characteristic facies" RELATED DEPRECATED [] xref: DOID:0081112 {source="MONDO:equivalentTo"} xref: GARD:15189 {source="MONDO:GARD"} xref: MEDGEN:340943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -203616,13 +203647,13 @@ is_a: MONDO:0009852 {source="Orphanet:332/btnt"} ! hereditary intrinsic factor d [Term] id: MONDO:0009472 name: acetylation, slow -synonym: "acetylation, Fast" RELATED [OMIM:243400] -synonym: "acetylation, slow" EXACT [OMIM:243400, OMIM:genemap2] -synonym: "Fast acetylator phenotype" RELATED [OMIM:243400] -synonym: "INH inactivation, Fast" RELATED [OMIM:243400] -synonym: "INH inactivation, slow" RELATED [OMIM:243400] -synonym: "Isoniazid inactivation, slow" RELATED [OMIM:243400] -synonym: "slow acetylator phenotype" RELATED [OMIM:243400] +synonym: "acetylation, Fast" RELATED [] +synonym: "acetylation, slow" EXACT [OMIM:243400] +synonym: "Fast acetylator phenotype" RELATED [] +synonym: "INH inactivation, Fast" RELATED [] +synonym: "INH inactivation, slow" RELATED [] +synonym: "Isoniazid inactivation, slow" RELATED [] +synonym: "slow acetylator phenotype" RELATED [] xref: MEDGEN:164207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:243400 {source="MONDO:equivalentTo"} xref: UMLS:C0878587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:164207"} @@ -203642,11 +203673,11 @@ subset: orphanet_rare {source="Orphanet:2306"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Isotretinoin embryopathy like syndrome" RELATED [GARD:0009675] -synonym: "ISOTRETINOIN embryopathy-like syndrome" RELATED [OMIM:243440] +synonym: "ISOTRETINOIN embryopathy-like syndrome" RELATED [] synonym: "Kawashima syndrome" EXACT [Orphanet:2306] synonym: "microtia aortic arch syndrome" RELATED [GARD:0009675] -synonym: "microtia-aortic Arch syndrome" RELATED [OMIM:243440] -synonym: "microtia-aortic arch syndrome" EXACT [Orphanet:2306] +synonym: "microtia-aortic Arch syndrome" RELATED [] +synonym: "microtia-aortic arch syndrome" EXACT [OMIM:243440, Orphanet:2306] synonym: "syndrome of microtia and aortic arch anomalies" RELATED [GARD:0009675] xref: GARD:9675 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2306", source="Orphanet:2306/attributed", source="Orphanet:2306/ntbt"} @@ -203679,15 +203710,15 @@ subset: ordo_disorder {source="Orphanet:33"} subset: orphanet_rare {source="Orphanet:33"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "isovaleric acid CoA dehydrogenase deficiency" EXACT [DOID:14753, Orphanet:33] -synonym: "isovaleric acid Coa dehydrogenase deficiency" RELATED [OMIM:243500] -synonym: "isovaleric acidemia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:243500] +synonym: "isovaleric acid CoA dehydrogenase deficiency" EXACT [DOID:14753, OMIM:243500, Orphanet:33] +synonym: "isovaleric acid Coa dehydrogenase deficiency" RELATED [] +synonym: "isovaleric acidemia" EXACT CLINGEN_LABEL [DOID:14753, ICD10CM:E71.110, MONDO:Lexical, NCIT:C98964, OMIM:243500, Orphanet:33] synonym: "isovaleric aciduria" EXACT [DOID:14753] synonym: "Isovalericacidemia" EXACT [NCIT:C98964] synonym: "isovaleryl CoA carboxylase deficiency" RELATED [GARD:0000465] -synonym: "isovaleryl-CoA dehydrogenase deficiency" EXACT [NCIT:C98964] -synonym: "IVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:243500] -synonym: "IVD deficiency" RELATED [OMIM:243500] +synonym: "isovaleryl-CoA dehydrogenase deficiency" EXACT [DOID:14753, NCIT:C98964] +synonym: "IVA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "IVD deficiency" RELATED [] xref: DOID:14753 {source="MONDO:equivalentTo"} xref: GARD:465 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:33/ntbt", source="Orphanet:33", source="Orphanet:33/inclusion"} @@ -203720,17 +203751,17 @@ subset: ordo_morphological_anomaly {source="Orphanet:1201"} subset: orphanet_rare {source="Orphanet:1201"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "apple peel small bowel syndrome" RELATED [OMIM:243600] -synonym: "apple peel syndrome" EXACT [Orphanet:1201] +synonym: "apple peel small bowel syndrome" RELATED [] +synonym: "apple peel syndrome" EXACT [OMIM:243600] synonym: "apple-peel intestinal atresia" RELATED [GARD:0006799] synonym: "APSB" RELATED ABBREVIATION [GARD:0006799] synonym: "atresia of the small intestine" EXACT [NCIT:C98828] synonym: "congenital atresia of the small intestine" RELATED [GARD:0000140] synonym: "congenital small intestine atresia" EXACT [NCIT:C98828] synonym: "familial apple peel jejunal atresia" RELATED [GARD:0006799] -synonym: "intestinal atresia type IIIb" EXACT [Orphanet:1201] -synonym: "Jejunal Atresia" EXACT [NORD:1309] -synonym: "jejunal atresia" EXACT [Orphanet:1201] +synonym: "intestinal atresia type IIIb" EXACT [] +synonym: "Jejunal Atresia" EXACT [NORD:1309, OMIM:243600, Orphanet:1201] +synonym: "jejunal atresia" EXACT [OMIM:243600, Orphanet:1201] synonym: "Jejunoileal atresia" EXACT [GARD:0000140, Orphanet:1201] synonym: "small intestinal atresia" EXACT [Orphanet:1201] synonym: "small intestine atresia" EXACT [GARD:0000140, NCIT:C98828] @@ -203766,19 +203797,19 @@ subset: ordo_malformation_syndrome {source="Orphanet:444069"} subset: orphanet_rare {source="Orphanet:444069", source="Orphanet:506307"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "apple peel syndrome with microcephaly and ocular anomalies" EXACT [DOID:0110595] +synonym: "apple peel syndrome with microcephaly and ocular anomalies" EXACT [DOID:0110595, OMIM:243605] synonym: "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome" EXACT [Orphanet:506307] -synonym: "CILD31" EXACT DEPRECATED [DOID:0110595, MONDO:Lexical, OMIM:616369] -synonym: "ciliary dyskinesia, primary, 31" RELATED [MONDO:Lexical, OMIM:616369] -synonym: "ciliary dyskinesia, primary, 31, formerly" RELATED DEPRECATED [OMIM:243605] -synonym: "ciliary dyskinesia, primary, type 31" EXACT [MONDORULE:2, OMIM:616369] +synonym: "CILD31" EXACT DEPRECATED [DOID:0110595, MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 31" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 31, formerly" RELATED DEPRECATED [] +synonym: "ciliary dyskinesia, primary, type 31" EXACT [MONDORULE:2] synonym: "jejunal atresia with microcephaly and ocular anomalies" EXACT [DOID:0110595, OMIM:243605] synonym: "jejunal atresia-microcephaly-ocular anomalies syndrome" EXACT [Orphanet:506307] -synonym: "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT [DOID:0110595] +synonym: "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT [DOID:0110595, Orphanet:444069] synonym: "lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT OMO:0003005 [] synonym: "primary ciliary dyskinesia 31" EXACT DEPRECATED [DOID:0110595] -synonym: "Stromme syndrome" EXACT [OMIM:243605] -synonym: "STROMS" RELATED ABBREVIATION [OMIM:243605] +synonym: "Stromme syndrome" EXACT [DOID:0110595, OMIM:243605, Orphanet:506307] +synonym: "STROMS" RELATED ABBREVIATION [] xref: DOID:0110595 {source="MONDO:equivalentTo"} xref: EFO:0009160 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:17945 {source="MONDO:GARD"} @@ -203815,15 +203846,15 @@ synonym: "AR-HIES" RELATED [GARD:0002816] synonym: "autosomal recessive hyper IgE syndrome" RELATED [GARD:0002816] synonym: "Cid due to DOCK8 deficiency" EXACT [Orphanet:217390] synonym: "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency" EXACT [Orphanet:217390] -synonym: "combined immunodeficiency due to DOCK8 deficiency" EXACT CLINGEN_LABEL [] +synonym: "combined immunodeficiency due to DOCK8 deficiency" EXACT CLINGEN_LABEL [icd11.foundation:136043326, Orphanet:217390] synonym: "dedicator of cytokinesis 8 deficiency" EXACT [NCIT:C126343] synonym: "DOCK8 deficiency" RELATED [GARD:0002816] synonym: "DOCK8 immunodeficiency syndrome" EXACT [Orphanet:217390] synonym: "HIES autosomal recessive" RELATED [GARD:0002816] -synonym: "HIES, autosomal recessive" RELATED [OMIM:243700] +synonym: "HIES, autosomal recessive" RELATED [] synonym: "hyper Ig E syndrome, autosomal recessive" RELATED [GARD:0002816] -synonym: "hyper-IgE recurrent infection syndrome, autosomal recessive" RELATED [OMIM:243700] -synonym: "hyper-IgE syndrome, autosomal recessive" RELATED [OMIM:243700] +synonym: "hyper-IgE recurrent infection syndrome, autosomal recessive" RELATED [] +synonym: "hyper-IgE syndrome, autosomal recessive" RELATED [] synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" RELATED [GARD:0002816] xref: DOID:0080594 {source="MONDO:equivalentTo"} xref: GARD:2816 {source="MONDO:GARD"} @@ -203854,12 +203885,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2315"} subset: orphanet_rare {source="Orphanet:2315"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "JBS" EXACT ABBREVIATION [Orphanet:2315] -synonym: "Johanson-BLIZZARD syndrome" RELATED [OMIM:243800] -synonym: "Johanson-Blizzard syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:243800] +synonym: "JBS" EXACT ABBREVIATION [DOID:14694, OMIM:243800, Orphanet:2315] +synonym: "Johanson-BLIZZARD syndrome" RELATED [] +synonym: "Johanson-Blizzard syndrome" EXACT CLINGEN_LABEL [DOID:14694, icd11.foundation:1427330812, MONDO:Lexical, OMIM:243800, Orphanet:2315] synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness" RELATED [GARD:0000080] -synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness" RELATED [OMIM:243800] -synonym: "pancreatic insufficiency, combined exocrine" EXACT [OMIM:260450] +synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness" RELATED [] +synonym: "pancreatic insufficiency, combined exocrine" EXACT [] xref: DOID:14694 {source="MONDO:equivalentTo"} xref: GARD:80 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2315", source="Orphanet:2315/attributed", source="Orphanet:2315/ntbt"} @@ -203899,23 +203930,23 @@ subset: ordo_disorder {source="Orphanet:2318"} subset: orphanet_rare {source="Orphanet:2318"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Arima syndrome" EXACT [Orphanet:2318] +synonym: "Arima syndrome" EXACT [icd11.foundation:397835469, OMIM:243910, Orphanet:2318] synonym: "cerebello-oculo-renal syndrome" RELATED [GARD:0009455] synonym: "Cerebellooculorenal syndrome" EXACT [Orphanet:2318] synonym: "cerebro-oculo-hepato-renal syndrome" RELATED [GARD:0009455] -synonym: "cerebrooculohepatorenal syndrome" RELATED [OMIM:243910] +synonym: "cerebrooculohepatorenal syndrome" RELATED [] synonym: "chorioretinal coloboma with cerebellar vermis aplasia" RELATED [GARD:0009455] -synonym: "coloboma, chorioretinal, with cerebellar vermis aplasia" RELATED [OMIM:243910] +synonym: "coloboma, chorioretinal, with cerebellar vermis aplasia" RELATED [] synonym: "CORS" EXACT ABBREVIATION [Orphanet:2318] synonym: "Dekaban Arima syndrome" RELATED [GARD:0009455] -synonym: "Dekaban-Arima syndrome" EXACT [Orphanet:2318] +synonym: "Dekaban-Arima syndrome" EXACT [icd11.foundation:397835469, OMIM:243910, Orphanet:2318] synonym: "Joubert syndrome 5" RELATED [GARD:0009455] -synonym: "Joubert syndrome with bilateral chorioretinal coloboma" RELATED [GARD:0009455, OMIM:243910] +synonym: "Joubert syndrome with bilateral chorioretinal coloboma" RELATED [GARD:0009455] synonym: "Joubert syndrome with oculorenal anomalies" RELATED [GARD:0009455] -synonym: "Joubert syndrome with oculorenal defect" EXACT [GARD:0009455] -synonym: "Joubert syndrome with Senior-Loken syndrome" EXACT [Orphanet:2318] +synonym: "Joubert syndrome with oculorenal defect" EXACT [GARD:0009455, icd11.foundation:397835469, Orphanet:2318] +synonym: "Joubert syndrome with Senior-Loken syndrome" EXACT [icd11.foundation:397835469, Orphanet:2318] synonym: "JS type B" EXACT [GARD:0009455, Orphanet:2318] -synonym: "JS-OR" EXACT [GARD:0009455, Orphanet:2318] +synonym: "JS-OR" EXACT ABBREVIATION [GARD:0009455, Orphanet:2318] xref: GARD:9455 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:2318/attributed", source="Orphanet:2318/ntbt", source="Orphanet:2318"} xref: icd11.foundation:397835469 {source="MONDO:equivalentTo"} @@ -203955,8 +203986,8 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:3073", source="MONDO:GARD"} subset: rare -synonym: "HH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244200] -synonym: "hypogonadotropic hypogonadism 3 with or without anosmia" EXACT [MONDO:Lexical, OMIM:244200] +synonym: "HH3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 3 with or without anosmia" EXACT [DOID:0090092, MONDO:Lexical, OMIM:244200] synonym: "hypogonadotropic hypogonadism caused by mutation in PROKR2" EXACT [MONDO:design_pattern] synonym: "KAL3" RELATED ABBREVIATION [GARD:0003073] synonym: "Kallmann syndrome 3" RELATED [GARD:0003073] @@ -203988,9 +204019,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome" EXACT [Orphanet:2328] synonym: "kapur Toriello syndrome" RELATED [GARD:0003078] -synonym: "kapur-Toriello syndrome" EXACT [OMIM:244300] +synonym: "kapur-Toriello syndrome" EXACT [OMIM:244300, Orphanet:2328] synonym: "long columella with cleft lip/palate and eye, heart and intestinal anomalies" RELATED [GARD:0003078] -synonym: "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies" RELATED [OMIM:244300] +synonym: "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies" RELATED [] xref: GARD:3078 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2328", source="Orphanet:2328/attributed", source="Orphanet:2328/ntbt"} xref: MEDGEN:208654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -204012,21 +204043,21 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CILD1" EXACT ABBREVIATION [DOID:0110594, MONDO:Lexical, OMIM:244400] -synonym: "ciliary dyskinesia, primary, 1" RELATED [MONDO:Lexical, OMIM:244400] -synonym: "ciliary dyskinesia, primary, 1, with or without situs inversus" RELATED [OMIM:244400] -synonym: "ciliary dyskinesia, primary, type 1" EXACT [MONDORULE:1, OMIM:244400] -synonym: "dextrocardia, bronchiectasis, and sinusitis" RELATED [OMIM:244400] +synonym: "CILD1" EXACT ABBREVIATION [DOID:0110594, MONDO:Lexical, NCIT:C128117, OMIM:244400] +synonym: "ciliary dyskinesia, primary, 1" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 1, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 1" EXACT [MONDORULE:1] +synonym: "dextrocardia, bronchiectasis, and sinusitis" RELATED [] synonym: "DNAI1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "immotile cilia syndrome" RELATED [OMIM:244400] -synonym: "Kartagener syndrome" RELATED [OMIM:244400] -synonym: "PCD" RELATED ABBREVIATION [OMIM:244400] -synonym: "Polynesian bronchiectasis" RELATED [OMIM:244400] -synonym: "primary ciliary dyskinesia 1" EXACT CLINGEN_LABEL [] +synonym: "immotile cilia syndrome" RELATED [] +synonym: "Kartagener syndrome" RELATED [] +synonym: "PCD" RELATED ABBREVIATION [] +synonym: "Polynesian bronchiectasis" RELATED [] +synonym: "primary ciliary dyskinesia 1" EXACT CLINGEN_LABEL [DOID:0110594, NCIT:C128117] synonym: "primary ciliary dyskinesia 1 with or without situs inversus" EXACT [DOID:0110594] synonym: "primary ciliary dyskinesia caused by mutation in DNAI1" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 1" EXACT [DOID:0110594, MONDORULE:1] -synonym: "Siewert syndrome" RELATED [OMIM:244400] +synonym: "primary ciliary dyskinesia type 1" EXACT [MONDORULE:1] +synonym: "Siewert syndrome" RELATED [] xref: DOID:0110594 {source="MONDO:equivalentTo"} xref: ICD10CM:Q34.8 {source="DOID:0110594"} xref: MEDGEN:1646059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -204052,11 +204083,11 @@ subset: orphanet_rare {source="Orphanet:2707"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "blepharophimosis-ptosis-intellectual disability syndrome" EXACT [OMIM:244450] -synonym: "BPIDS" EXACT ABBREVIATION [OMIM:244450] -synonym: "Kaufman oculocerebrofacial syndrome" RELATED [MONDO:Lexical, OMIM:244450] -synonym: "KOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244450] -synonym: "kos" RELATED [OMIM:244450] -synonym: "oculocerebrofacial syndrome, Kaufman type" EXACT CLINGEN_LABEL [] +synonym: "BPIDS" EXACT ABBREVIATION [] +synonym: "Kaufman oculocerebrofacial syndrome" RELATED [MONDO:Lexical] +synonym: "KOS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "kos" RELATED [] +synonym: "oculocerebrofacial syndrome, Kaufman type" EXACT CLINGEN_LABEL [DOID:0111456, Orphanet:2707] synonym: "severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" RELATED [GARD:0003084] synonym: "severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet" RELATED DEPRECATED [GARD:0003084] xref: DOID:0111456 {source="MONDO:equivalentTo"} @@ -204086,11 +204117,11 @@ subset: ordo_etiological_subtype {source="Orphanet:93324"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93324"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Kcs" RELATED [OMIM:244460] -synonym: "KCS1" RELATED ABBREVIATION [GARD:0008367, MONDO:Lexical, OMIM:244460] -synonym: "Kenny-Caffey syndrome type 1" EXACT [NCIT:C130992] +synonym: "Kcs" RELATED [] +synonym: "KCS1" RELATED ABBREVIATION [GARD:0008367, MONDO:Lexical] +synonym: "Kenny-Caffey syndrome type 1" EXACT [DOID:0080722, NCIT:C130992] synonym: "Kenny-Caffey syndrome, autosomal recessive" EXACT [GARD:0008367, MONDO:patterns/autosomal_recessive, OMIM:244460] -synonym: "Kenny-Caffey syndrome, type 1" RELATED [MONDO:Lexical, OMIM:244460] +synonym: "Kenny-Caffey syndrome, type 1" RELATED [MONDO:Lexical] xref: DOID:0080722 {source="MONDO:equivalentTo"} xref: GARD:8367 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:93324", source="Orphanet:93324/attributed", source="Orphanet:93324/ntbt"} @@ -204124,10 +204155,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009488 name: keratoconus posticus circumscriptus -synonym: "keratoconus posticus CIRCUMSCRIPTUS" RELATED [OMIM:244600] +synonym: "keratoconus posticus CIRCUMSCRIPTUS" RELATED [] synonym: "keratoconus posticus circumscriptus" EXACT [MONDO:Lexical, OMIM:244600] -synonym: "KPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244600] -synonym: "Kpc with associated malformations" RELATED [OMIM:244600] +synonym: "KPC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Kpc with associated malformations" RELATED [] xref: MEDGEN:340922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536151 {source="MONDO:equivalentTo"} xref: OMIM:244600 {source="MONDO:equivalentTo"} @@ -204146,9 +204177,9 @@ subset: orphanet_rare {source="Orphanet:86923"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type" EXACT [Orphanet:86923] -synonym: "palmoplantar keratoderma, Norrbotten recessive type" RELATED [MONDO:Lexical, OMIM:244850] +synonym: "palmoplantar keratoderma, Norrbotten recessive type" RELATED [MONDO:Lexical] synonym: "PPK, Gamborg-Nielsen type" EXACT [Orphanet:86923] -synonym: "PPKNR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:244850] +synonym: "PPKNR" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16767 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:86923", source="Orphanet:86923/attributed", source="Orphanet:86923/ntbt"} xref: MEDGEN:344543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -204177,17 +204208,17 @@ synonym: "hyperkeratosis palmoplantaris with periodontosis" RELATED [GARD:000310 synonym: "Keratoris palmoplantaris with periodontopathia" RELATED [GARD:0003100] synonym: "keratosis palmoplantar - periodontopathy" RELATED [GARD:0003100] synonym: "keratosis palmoplantar-periodontopathy syndrome" EXACT [Orphanet:678] -synonym: "keratosis palmoplantaris with periodontopathia" RELATED [OMIM:245000] +synonym: "keratosis palmoplantaris with periodontopathia" RELATED [] synonym: "palmar-plantar hyperkeratosis and concomitant periodontal destruction" RELATED [GARD:0003100] synonym: "palmoplantar keratoderma with periodontosis" RELATED [GARD:0003100] -synonym: "PALS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245000] +synonym: "PALS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Papillon Lefevre syndrome" EXACT [DOID:3389] synonym: "Papillon Lefèvre Syndrome" EXACT [NORD:1552] -synonym: "PAPILLON-Lefevre syndrome" RELATED [MONDO:Lexical, OMIM:245000] +synonym: "PAPILLON-Lefevre syndrome" RELATED [MONDO:Lexical] synonym: "Papillon-Lefvre syndrome" EXACT [DOID:3389] -synonym: "Papillon-LEFèvre syndrome" RELATED [Orphanet:678] -synonym: "PLS" EXACT ABBREVIATION [Orphanet:678] -synonym: "Pls" RELATED [OMIM:245000] +synonym: "Papillon-LEFèvre syndrome" RELATED [] +synonym: "PLS" EXACT ABBREVIATION [OMIM:245000, Orphanet:678] +synonym: "Pls" RELATED [] xref: DOID:3389 {source="MONDO:equivalentTo"} xref: GARD:3100 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:678", source="Orphanet:678/attributed", source="Orphanet:678/ntbt"} @@ -204220,11 +204251,11 @@ subset: ordo_disorder {source="Orphanet:2342"} subset: orphanet_rare {source="Orphanet:2342"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cochin Jewish disorder" RELATED [OMIM:245010] -synonym: "HAIM-Munk syndrome" RELATED [OMIM:245010] -synonym: "Haim-Munk syndrome" EXACT [MONDO:Lexical, OMIM:245010] -synonym: "HMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245010] -synonym: "keratosis palmoplantaris with periodontopathia and onychogryposis" RELATED [OMIM:245010] +synonym: "Cochin Jewish disorder" RELATED [] +synonym: "HAIM-Munk syndrome" RELATED [] +synonym: "Haim-Munk syndrome" EXACT [MONDO:Lexical, OMIM:245010, Orphanet:2342] +synonym: "HMS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "keratosis palmoplantaris with periodontopathia and onychogryposis" RELATED [] synonym: "keratosis palmoplantaris-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342] synonym: "palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342] synonym: "palmoplantar keratoderma-periodontopathia-onychogryposis syndrome" EXACT [Orphanet:2342] @@ -204255,18 +204286,18 @@ subset: orphanet_rare {source="Orphanet:832"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "3-oxoacid CoA transferase deficiency" RELATED [GARD:0004774] -synonym: "ketoacidosis due to Scot deficiency" RELATED [OMIM:245050] +synonym: "ketoacidosis due to Scot deficiency" RELATED [] synonym: "OXCT1 deficiency" EXACT [Orphanet:832] -synonym: "SCOT deficiency" EXACT [Orphanet:832] -synonym: "Scot deficiency" RELATED [OMIM:245050] -synonym: "SCOTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245050] -synonym: "Succinyl CoA:3-oxoacid CoA transferase deficiency" EXACT [OMIM:245050, OMIM:genemap2] +synonym: "SCOT deficiency" EXACT [OMIM:245050, Orphanet:832] +synonym: "Scot deficiency" RELATED [] +synonym: "SCOTD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Succinyl CoA:3-oxoacid CoA transferase deficiency" EXACT [] synonym: "succinyl-CoA acetoacetate transferase deficiency" EXACT [Orphanet:832] -synonym: "succinyl-CoA:3-ketoacid CoA transferase deficiency" EXACT CLINGEN_LABEL [] -synonym: "succinyl-Coa:3-ketoacid Coa-transferase deficiency" RELATED [OMIM:245050] +synonym: "succinyl-CoA:3-ketoacid CoA transferase deficiency" EXACT CLINGEN_LABEL [Orphanet:832] +synonym: "succinyl-Coa:3-ketoacid Coa-transferase deficiency" RELATED [] synonym: "succinyl-CoA:3-oxoacid CoA transferase deficiency" EXACT [Orphanet:832] -synonym: "succinyl-CoA:3-oxoacid-CoA transferase deficiency" RELATED [MONDO:Lexical, OMIM:245050] -synonym: "succinyl-Coa:acetoacetate transferase deficiency" RELATED [OMIM:245050] +synonym: "succinyl-CoA:3-oxoacid-CoA transferase deficiency" RELATED [MONDO:Lexical] +synonym: "succinyl-Coa:acetoacetate transferase deficiency" RELATED [] xref: GARD:4774 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:832", source="Orphanet:832/attributed", source="Orphanet:832/ntbt"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -204292,16 +204323,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:1399"} subset: orphanet_rare {source="Orphanet:1399"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ataxia-deafness-intellectual disability syndrome" RELATED [OMIM:245100] -synonym: "ataxia-deafness-mental retardation syndrome" RELATED DEPRECATED [OMIM:245100] +synonym: "ataxia-deafness-intellectual disability syndrome" RELATED [] +synonym: "ataxia-deafness-mental retardation syndrome" RELATED DEPRECATED [] synonym: "ataxia-deafness-retardation syndrome with ketoaciduria" RELATED [GARD:0008423] synonym: "familial ataxia-hypogonadism syndrome" RELATED [GARD:0008423] synonym: "ketoaciduria - intellectual disability - ataxia - deafness" RELATED [GARD:0008423] synonym: "ketoaciduria-intellectual disability-ataxia-deafness syndrome" EXACT [Orphanet:1399] synonym: "ketoaciduria-mental deficiency syndrome" RELATED [GARD:0008423] -synonym: "RICHARDS-RUNDLE syndrome" RELATED [OMIM:245100] -synonym: "Richards-Rundle syndrome" EXACT [MONDO:Lexical, OMIM:245100] -synonym: "RRNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245100] +synonym: "RICHARDS-RUNDLE syndrome" RELATED [] +synonym: "Richards-Rundle syndrome" EXACT [icd11.foundation:114583632, MONDO:Lexical, OMIM:245100, Orphanet:1399] +synonym: "RRNS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:8423 {source="MONDO:GARD"} xref: ICD10CM:G60.2 {source="Orphanet:1399/attributed", source="Orphanet:1399/ntbt", source="Orphanet:1399"} xref: icd11.foundation:114583632 {source="MONDO:equivalentTo"} @@ -204333,11 +204364,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:85202"} subset: orphanet_rare {source="Orphanet:85202"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "KEUTEL syndrome" RELATED [OMIM:245150] -synonym: "Keutel syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:245150] -synonym: "KTLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245150] +synonym: "KEUTEL syndrome" RELATED [] +synonym: "Keutel syndrome" EXACT CLINGEN_LABEL [icd11.foundation:1083151379, MONDO:Lexical, OMIM:245150, Orphanet:85202] +synonym: "KTLS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pulmonic stenosis brachytelephalangism and calcification of cartilages" RELATED [GARD:0008449] -synonym: "pulmonic stenosis, brachytelephalangism, and calcification of cartilages" RELATED [OMIM:245150] +synonym: "pulmonic stenosis, brachytelephalangism, and calcification of cartilages" RELATED [] synonym: "pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome" EXACT [Orphanet:85202] xref: GARD:8449 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85202", source="Orphanet:85202/attributed", source="Orphanet:85202/ntbt"} @@ -204360,7 +204391,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8449/keutel- [Term] id: MONDO:0009496 name: Kniest-like dysplasia with pursed lips and ectopia lentis -synonym: "burton syndrome" RELATED [OMIM:245160] +synonym: "burton syndrome" RELATED [] synonym: "Kniest-like dysplasia with pursed lips and ectopia lentis" EXACT [OMIM:245160] xref: MEDGEN:343394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:245160 {source="MONDO:equivalentTo"} @@ -204394,7 +204425,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arthrosis, flat face, hypotonia, short neck and macrocephaly" RELATED [GARD:0003124] synonym: "Kniest like dysplasia lethal" RELATED [GARD:0003124] -synonym: "Kniest-like dysplasia, lethal" RELATED [OMIM:245190] +synonym: "Kniest-like dysplasia, lethal" RELATED [] xref: GARD:3124 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:2347", source="Orphanet:2347/attributed", source="Orphanet:2347/ntbt"} xref: MEDGEN:383721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -204422,20 +204453,20 @@ subset: orphanet_rare {source="Orphanet:487"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "beta galactocerebrosidase deficiency" EXACT [DOID:10587] -synonym: "diffuse globoid body sclerosis" EXACT [DOID:10587] -synonym: "galactocerebrosidase deficiency" EXACT [Orphanet:487] +synonym: "diffuse globoid body sclerosis" EXACT [DOID:10587, icd11.foundation:796317173] +synonym: "galactocerebrosidase deficiency" EXACT [icd11.foundation:796317173, OMIM:245200, Orphanet:487] synonym: "galactosylceramidase deficiency" EXACT [Orphanet:487] -synonym: "galactosylceramide Beta-galactosidase deficiency" RELATED [OMIM:245200] +synonym: "galactosylceramide Beta-galactosidase deficiency" RELATED [] synonym: "galactosylceramide lipidosis" EXACT [NCIT:C61254] -synonym: "GALC deficiency" EXACT [Orphanet:487] +synonym: "GALC deficiency" EXACT [OMIM:245200, Orphanet:487] synonym: "GALC enzyme deficiency" EXACT [PMID:32965986] synonym: "GLD" RELATED ABBREVIATION [GARD:0006844] -synonym: "globoid cell leukodystrophy" EXACT [DOID:10587, OMIM:245200, Orphanet:487, PMID:14572137] +synonym: "globoid cell leukodystrophy" EXACT [DOID:10587, icd11.foundation:796317173, NCIT:C61254, OMIM:245200, Orphanet:487, PMID:14572137] synonym: "globoid cell leukoencephalopathy" EXACT [DOID:10587, OMIM:245200] -synonym: "Krabbe disease" EXACT CLINGEN_LABEL [OMIM:245200] +synonym: "Krabbe disease" EXACT CLINGEN_LABEL [DOID:10587, ICD10CM:E75.23, icd11.foundation:796317173, NCIT:C61254, OMIM:245200, Orphanet:487] synonym: "Krabbe leukodystrophy" RELATED [GARD:0006844] synonym: "Krabbe's disease" EXACT [DOID:10587] -synonym: "Krabbe's leukodystrophy" EXACT [DOID:10587] +synonym: "Krabbe's leukodystrophy" EXACT [DOID:10587, icd11.foundation:796317173] synonym: "later onset Krabbe disease" NARROW [https://orcid.org/0000-0002-0587-4693, PMID:20301416] synonym: "later-onset Krabbe disease" NARROW [https://orcid.org/0000-0002-0587-4693, PMID:20301416] synonym: "Leukodystrophy, Krabbe's" EXACT [NORD:1368] @@ -204472,7 +204503,7 @@ id: MONDO:0009500 name: kuru, susceptibility to subset: predisposition synonym: "kuru, susceptibility to" EXACT [OMIM:245300] -synonym: "susceptibility to kuru" RELATED [OMIM:245300] +synonym: "susceptibility to kuru" RELATED [] xref: MEDGEN:343389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:245300 {source="MONDO:equivalentTo"} xref: UMLS:C1855588 {source="MEDGEN:343389", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -204493,7 +204524,7 @@ subset: orphanet_rare {source="Orphanet:171690"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "erythrocyte lactate transporter defect" EXACT [OMIM:245340, Orphanet:171690] -synonym: "lactate transporter defect, myopathy due to" RELATED [OMIM:245340] +synonym: "lactate transporter defect, myopathy due to" RELATED [] xref: GARD:17067 {source="MONDO:GARD"} xref: ICD10CM:G72.8 {source="Orphanet:171690/attributed", source="Orphanet:171690/ntbt", source="Orphanet:171690"} xref: MEDGEN:344529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -204516,10 +204547,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:79244] synonym: "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:79244] -synonym: "lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex" RELATED [OMIM:245348] -synonym: "PDHDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245348] +synonym: "lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex" RELATED [] +synonym: "PDHDD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pyruvate dehydrogenase complex component E2 deficiency" EXACT [Orphanet:79244] -synonym: "pyruvate dehydrogenase E2 deficiency" EXACT [MONDO:Lexical, OMIM:245348] +synonym: "pyruvate dehydrogenase E2 deficiency" EXACT [MONDO:Lexical, OMIM:245348, Orphanet:79244] xref: GARD:16712 {source="MONDO:GARD"} xref: ICD10CM:E74.4 {source="Orphanet:79244/attributed", source="Orphanet:79244/ntbt", source="Orphanet:79244"} xref: MEDGEN:343386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -204545,13 +204576,13 @@ synonym: "branched chain alpha-ketoacid dehydrogenase complex deficiency" EXACT synonym: "diaphorase deficiency" EXACT [Orphanet:255182] synonym: "dihydrolipoyl dehydrogenase deficiency" EXACT [Orphanet:255182] synonym: "Glycine cleavage system L protein deficiency" EXACT [Orphanet:255182] -synonym: "lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex" RELATED [OMIM:245349] -synonym: "lacticacidemia due to PDX1 deficiency" EXACT [OMIM:245349, OMIM:genemap2] +synonym: "lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex" RELATED [] +synonym: "lacticacidemia due to PDX1 deficiency" EXACT [] synonym: "lipoamide dehydrogenase deficiency" EXACT [Orphanet:255182] -synonym: "PDHXD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245349] +synonym: "PDHXD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pyruvate dehydrogenase complex component E3 deficiency" EXACT [Orphanet:255182] -synonym: "pyruvate dehydrogenase E3-binding PROTEIN deficiency" RELATED [OMIM:245349] -synonym: "pyruvate dehydrogenase E3-binding protein deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:245349] +synonym: "pyruvate dehydrogenase E3-binding PROTEIN deficiency" RELATED [] +synonym: "pyruvate dehydrogenase E3-binding protein deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:245349, Orphanet:255182] synonym: "pyruvate dehydrogenase protein X component deficiency" EXACT [Orphanet:255182] xref: GARD:17237 {source="MONDO:GARD"} xref: ICD10CM:E74.4 {source="Orphanet:255182", source="Orphanet:255182/attributed", source="Orphanet:255182/ntbt"} @@ -204575,15 +204606,15 @@ subset: ordo_disorder {source="Orphanet:17"} subset: orphanet_rare {source="Orphanet:17"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fatal infantile lactic acidosis with methylmalonic aciduria" RELATED [Orphanet:17] +synonym: "fatal infantile lactic acidosis with methylmalonic aciduria" RELATED [] synonym: "lactic acidosis congenital infantile" RELATED [GARD:0003163] -synonym: "lactic acidosis, fatal infantile" RELATED [OMIM:245400] -synonym: "lactic acidosis, fatal infantile, formerly" RELATED [OMIM:245400] -synonym: "mitochondrial DNA depletion syndrome 9" EXACT CLINGEN_LABEL [] -synonym: "mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)" RELATED [MONDO:Lexical, OMIM:245400] +synonym: "lactic acidosis, fatal infantile" RELATED [] +synonym: "lactic acidosis, fatal infantile, formerly" RELATED [] +synonym: "mitochondrial DNA depletion syndrome 9" EXACT CLINGEN_LABEL [DOID:0080128, OMIM:245400] +synonym: "mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)" RELATED [MONDO:Lexical] synonym: "mitochondrial DNA depletion syndrome caused by mutation in SUCLG1" EXACT [MONDO:design_pattern] -synonym: "mitochondrial DNA depletion syndrome type 9" EXACT [DOID:0080128, MONDORULE:1] -synonym: "MTDPS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245400] +synonym: "mitochondrial DNA depletion syndrome type 9" EXACT [MONDORULE:1] +synonym: "MTDPS9" RELATED ABBREVIATION [MONDO:Lexical] synonym: "succinate-CoA ligase deficiency" BROAD [https://orcid.org/0000-0001-6330-7526, PMID:26475597, PMID:31240156] synonym: "SUCLG1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080128 {source="MONDO:equivalentTo"} @@ -204610,8 +204641,8 @@ name: lactic aciduria due to D-lactic acid subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "D-lactic aciduria with susceptibility to gout" EXACT [OMIM:245450, OMIM:genemap2] -synonym: "lactic aciduria due to D-lactic acid" EXACT [OMIM:245450] +synonym: "D-lactic aciduria with susceptibility to gout" EXACT [] +synonym: "lactic aciduria due to D-lactic acid" EXACT [] xref: MEDGEN:1679270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565446 {source="MONDO:equivalentTo"} xref: OMIM:245450 {source="MONDO:equivalentTo"} @@ -204630,12 +204661,12 @@ subset: ordo_disorder {source="Orphanet:169142"} subset: orphanet_rare {source="Orphanet:169142"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lactoferrin-deficient neutrophils" RELATED [OMIM:245480] -synonym: "neutrophil lactoferrin deficiency" RELATED [OMIM:245480] +synonym: "lactoferrin-deficient neutrophils" RELATED [] +synonym: "neutrophil lactoferrin deficiency" RELATED [] synonym: "neutrophil-specific granule deficiency" EXACT [Orphanet:169142] -synonym: "recurrent infection due to specific granule deficiency" EXACT [Orphanet:169142] -synonym: "SGD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245480] -synonym: "specific granule deficiency" EXACT [MONDO:Lexical, OMIM:245480] +synonym: "recurrent infection due to specific granule deficiency" EXACT [] +synonym: "SGD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "specific granule deficiency" EXACT [MONDO:Lexical, OMIMPS:245480] xref: GARD:10778 {source="MONDO:GARD"} xref: ICD10CM:D71 {source="Orphanet:169142/attributed", source="Orphanet:169142/ntbt", source="Orphanet:169142"} xref: MEDGEN:140766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -204659,9 +204690,9 @@ subset: orphanet_rare {source="Orphanet:1296"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "branchial dysplasia clubfoot inguinal hernia and biliary atresia" RELATED [GARD:0003169] -synonym: "branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia" RELATED [OMIM:245550] +synonym: "branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia" RELATED [] synonym: "branchial dysplasia-intellectual disability-inguinal hernia syndrome" EXACT [Orphanet:1296] -synonym: "Lambert syndrome" EXACT [OMIM:245550] +synonym: "Lambert syndrome" EXACT [OMIM:245550, Orphanet:1296] xref: GARD:3169 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1296", source="Orphanet:1296/attributed", source="Orphanet:1296/ntbt"} xref: MEDGEN:343381 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -204677,7 +204708,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3169/lambert id: MONDO:0009508 name: Lambotte syndrome synonym: "Lambotte syndrome" EXACT [OMIM:245552] -synonym: "microcephaly, holoprosencephaly, and intrauterine Growth retardation" RELATED [OMIM:245552] +synonym: "microcephaly, holoprosencephaly, and intrauterine Growth retardation" RELATED [] xref: MEDGEN:343380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537549 {source="MONDO:equivalentTo"} xref: OMIM:245552 {source="MONDO:equivalentTo"} @@ -204695,19 +204726,19 @@ subset: orphanet_rare {source="Orphanet:98818"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acquired aphasia with convulsive disorder" RELATED [GARD:0006855] -synonym: "acquired epileptic aphasia" EXACT [DOID:2538, Orphanet:98818] +synonym: "acquired epileptic aphasia" EXACT [DOID:2538, icd11.foundation:348544271, NCIT:C84806, Orphanet:98818] synonym: "acquired epileptiform aphasia" RELATED [GARD:0006855] -synonym: "aphasia, acquired, with epilepsy" RELATED [OMIM:245570] -synonym: "benign epilepsy of childhood with centrotemporal spikes" RELATED [OMIM:245570] -synonym: "continuous Spike and waves during slow-Wave sleep syndrome" RELATED [OMIM:245570] -synonym: "epilepsy, focal, with speech disorder and with or without impaired intellectual development" EXACT [OMIM:245570, OMIM:genemap2] -synonym: "epilepsy, focal, with speech disorder and with or without intellectual disability" RELATED [MONDO:Lexical, OMIM:245570] -synonym: "epilepsy, focal, with speech disorder and with or without mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:245570] -synonym: "FESD" RELATED DEPRECATED [MONDO:Lexical, OMIM:245570] -synonym: "Landau-Kleffner syndrome" EXACT [OMIM:245570] +synonym: "aphasia, acquired, with epilepsy" RELATED [] +synonym: "benign epilepsy of childhood with centrotemporal spikes" RELATED [] +synonym: "continuous Spike and waves during slow-Wave sleep syndrome" RELATED [] +synonym: "epilepsy, focal, with speech disorder and with or without impaired intellectual development" EXACT [OMIM:245570] +synonym: "epilepsy, focal, with speech disorder and with or without intellectual disability" RELATED [MONDO:Lexical] +synonym: "epilepsy, focal, with speech disorder and with or without mental retardation" RELATED DEPRECATED [MONDO:Lexical] +synonym: "FESD" RELATED DEPRECATED [MONDO:Lexical] +synonym: "Landau-Kleffner syndrome" EXACT [DOID:2538, NCIT:C84806, Orphanet:98818] synonym: "LKS" EXACT ABBREVIATION [Orphanet:98818] -synonym: "Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant" RELATED [OMIM:245570] -synonym: "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant" RELATED DEPRECATED [OMIM:245570] +synonym: "Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant" RELATED [] +synonym: "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant" RELATED DEPRECATED [] xref: DOID:2538 {source="EFO:1001010", source="MONDO:equivalentTo"} xref: EFO:1001010 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6855 {source="MONDO:GARD"} @@ -204754,14 +204785,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:284139"} subset: orphanet_rare {source="Orphanet:284139"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "JDSCD" RELATED ABBREVIATION [OMIM:245600] -synonym: "Larsen syndrome, autosomal recessive" RELATED [OMIM:245600] -synonym: "Larsen syndrome, autosomal recessive, formerly" RELATED [OMIM:245600] -synonym: "multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects" RELATED [OMIM:245600] -synonym: "multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects" RELATED [OMIM:245600] -synonym: "multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" RELATED [OMIM:245600] -synonym: "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects" EXACT [OMIM:245600, OMIM:genemap2] -synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT [Orphanet:284139] +synonym: "JDSCD" RELATED ABBREVIATION [] +synonym: "Larsen syndrome, autosomal recessive" RELATED [] +synonym: "Larsen syndrome, autosomal recessive, formerly" RELATED [] +synonym: "multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects" RELATED [] +synonym: "multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects" RELATED [] +synonym: "multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" RELATED [] +synonym: "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects" EXACT [] +synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT [DOID:0080575, Orphanet:284139] xref: DOID:0080575 {source="MONDO:equivalentTo"} xref: GARD:17308 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:284139", source="Orphanet:284139/attributed", source="Orphanet:284139/ntbt"} @@ -204793,7 +204824,7 @@ subset: orphanet_rare {source="Orphanet:2371"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Larsen-like multiple joint dislocation syndrome" RELATED [GARD:0003181] -synonym: "Larsen-like syndrome, lethal type" RELATED [OMIM:245650] +synonym: "Larsen-like syndrome, lethal type" RELATED [] xref: GARD:3181 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:2371/attributed", source="Orphanet:2371/ntbt", source="Orphanet:2371"} xref: icd11.foundation:1014532279 {source="MONDO:equivalentTo"} @@ -204818,9 +204849,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome" EXACT [Orphanet:2407] synonym: "laryngo-onycho-cutaneous syndrome" EXACT [Orphanet:2407] -synonym: "LARYNGOONYCHOCUTANEOUS syndrome" RELATED [MONDO:Lexical, OMIM:245660] +synonym: "LARYNGOONYCHOCUTANEOUS syndrome" RELATED [MONDO:Lexical] synonym: "LOC syndrome" EXACT [Orphanet:2407] -synonym: "LOCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245660] +synonym: "LOCS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "logic syndrome" EXACT [OMIM:245660, Orphanet:2407] synonym: "Shabbir syndrome" EXACT [Orphanet:2407] xref: GARD:368 {source="MONDO:GARD"} @@ -204850,11 +204881,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2377"} subset: orphanet_rare {source="Orphanet:2377"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Laurence-MOON syndrome" RELATED [OMIM:245800] -synonym: "Laurence-Moon syndrome" EXACT [MONDO:Lexical, OMIM:245800] +synonym: "Laurence-MOON syndrome" RELATED [] +synonym: "Laurence-Moon syndrome" EXACT [DOID:1930, icd11.foundation:458834940, MONDO:Lexical, NCIT:C34760, OMIM:245800, Orphanet:2377] synonym: "Laurence-Moon-Biedl syndrome" RELATED [DOID:1930] synonym: "LMS" EXACT ABBREVIATION [Orphanet:2377] -synonym: "LNMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:245800] +synonym: "LNMS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:1930 {source="MONDO:equivalentTo"} xref: GARD:12635 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2377/inclusion", source="Orphanet:2377", source="Orphanet:2377/ntbt"} @@ -204893,12 +204924,12 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:79293"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "complete LCAT deficiency" EXACT [Orphanet:79293] -synonym: "familial LCAT deficiency" RELATED [Orphanet:79293] +synonym: "familial LCAT deficiency" RELATED [] synonym: "FLD" EXACT ABBREVIATION [Orphanet:79293] -synonym: "LCAT deficiency" RELATED [OMIM:245900] -synonym: "lecithin acyltransferase deficiency" EXACT [DOID:1391] -synonym: "lecithin:cholesterol acyltransferase deficiency" EXACT [DOID:1391, OMIM:245900] -synonym: "Norum disease" EXACT [OMIM:245900, Orphanet:79293] +synonym: "LCAT deficiency" RELATED [] +synonym: "lecithin acyltransferase deficiency" EXACT [DOID:1391, NCIT:C84813] +synonym: "lecithin:cholesterol acyltransferase deficiency" EXACT [OMIM:245900] +synonym: "Norum disease" EXACT [DOID:1391, icd11.foundation:1848131619, OMIM:245900, Orphanet:79293] xref: DOID:1391 {source="MONDO:equivalentTo"} xref: GARD:4011 {source="MONDO:GARD"} xref: ICD10CM:E78.6 {source="Orphanet:79293", source="DOID:1391", source="Orphanet:79293/attributed", source="Orphanet:79293/ntbt"} @@ -204929,7 +204960,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2310"} subset: orphanet_rare {source="Orphanet:2310"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "leg, absence deformity of, with congenital cataract" RELATED [OMIM:246000] +synonym: "leg, absence deformity of, with congenital cataract" RELATED [] xref: GARD:16593 {source="MONDO:GARD"} xref: MEDGEN:343374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565442 {source="MONDO:equivalentTo"} @@ -204953,10 +204984,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:508"} subset: orphanet_rare {source="Orphanet:508"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Donohue syndrome" EXACT [OMIM:246200, Orphanet:508] -synonym: "insulin receptor, defect 1N" RELATED [OMIM:246200] -synonym: "Leprechaunism" EXACT [NORD:1361] -synonym: "leprechaunism" EXACT [DOID:0050470, OMIM:246200] +synonym: "Donohue syndrome" EXACT [DOID:0050470, NCIT:C84676, OMIM:246200, Orphanet:508] +synonym: "insulin receptor, defect 1N" RELATED [] +synonym: "Leprechaunism" EXACT [DOID:0050470, NCIT:C84676, NORD:1361, OMIM:246200, Orphanet:508] +synonym: "leprechaunism" EXACT [DOID:0050470, NCIT:C84676, OMIM:246200, Orphanet:508] xref: DOID:0050470 {source="MONDO:equivalentTo"} xref: GARD:6885 {source="MONDO:GARD"} xref: ICD10CM:E34.8 {source="Orphanet:508", source="Orphanet:508/index", source="Orphanet:508/ntbt"} @@ -204988,11 +205019,11 @@ name: leprosy, susceptibility to, 3 def: "Any leprosy in which the cause of the disease is a mutation in the TLR2 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "leprosy caused by mutation in TLR2" EXACT [MONDO:design_pattern] -synonym: "leprosy, susceptibility to" EXACT [OMIM:246300, OMIM:genemap2] +synonym: "leprosy, susceptibility to" EXACT [] synonym: "leprosy, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:246300] -synonym: "leprosy, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:246300] -synonym: "LPRS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:246300] -synonym: "susceptibility to leprosy 3" RELATED [OMIM:246300] +synonym: "leprosy, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "LPRS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to leprosy 3" RELATED [] synonym: "TLR2 leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:368500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:246300 {source="MONDO:equivalentTo"} @@ -205010,11 +205041,11 @@ name: letterer-Siwe disease def: "A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia." [NCIT:C3160] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "acute and disseminated Langerhans cell histiocytosis" EXACT [Orphanet:99870] +synonym: "acute and disseminated Langerhans cell histiocytosis" EXACT [] synonym: "acute disseminated Langerhans cell histiocytosis" EXACT [NCIT:C3160] -synonym: "histiocytosis X, acute disseminated" RELATED [OMIM:246400] -synonym: "L-S disease" RELATED [OMIM:246400] -synonym: "letterer-Siwe disease" EXACT [NCIT:C3160, OMIM:246400] +synonym: "histiocytosis X, acute disseminated" RELATED [] +synonym: "L-S disease" RELATED [] +synonym: "letterer-Siwe disease" EXACT [icd11.foundation:1827474596, NCIT:C3160, OMIM:246400] synonym: "multifocal multisystem Langerhans cell histiocytosis" EXACT [NCIT:C3160] xref: ICD10CM:C96.0 {source="Orphanet:99870/e", source="Orphanet:99870"} xref: icd11.foundation:1827474596 {source="MONDO:equivalentTo"} @@ -205040,18 +205071,18 @@ subset: ordo_disorder {source="Orphanet:20"} subset: orphanet_rare {source="Orphanet:20"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3-hydroxy-3-methylglutaric aciduria" EXACT CLINGEN_LABEL [] -synonym: "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" EXACT [MONDO:Lexical, OMIM:246450, Orphanet:20] +synonym: "3-hydroxy-3-methylglutaric aciduria" EXACT CLINGEN_LABEL [icd11.foundation:795785192, Orphanet:20] +synonym: "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" EXACT [DOID:0070541, MONDO:Lexical, NCIT:C84523, OMIM:246450, Orphanet:20] synonym: "3-OH 3-Methyl glutaric aciduria" EXACT [NCIT:C84523] synonym: "defect in leucine metabolism" RELATED [GARD:0008387] synonym: "deficiency of hydroxymethylglutaryl-CoA lyase" EXACT [NCIT:C84523] -synonym: "HL deficiency" RELATED [OMIM:246450] +synonym: "HL deficiency" RELATED [DOID:0070541] synonym: "HMG CoA lyase deficiency" RELATED [GARD:0008387] -synonym: "HMG-CoA lyase deficiency" EXACT [Orphanet:20] -synonym: "HMG-Coa lyase deficiency" RELATED [OMIM:246450] -synonym: "Hmgcl deficiency" RELATED [OMIM:246450] -synonym: "HMGCLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:246450] -synonym: "Hydroxymethylglutaric aciduria" EXACT [OMIM:246450, Orphanet:20] +synonym: "HMG-CoA lyase deficiency" EXACT [DOID:0070541, NCIT:C84523, OMIM:246450, Orphanet:20] +synonym: "HMG-Coa lyase deficiency" RELATED [] +synonym: "Hmgcl deficiency" RELATED [] +synonym: "HMGCLD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Hydroxymethylglutaric aciduria" EXACT [DOID:0070541, NCIT:C84523, OMIM:246450, Orphanet:20] synonym: "hydroxymethylglutaryl-CoA lyase deficiency" EXACT [NCIT:C84523] xref: DOID:0070541 {source="MONDO:equivalentTo"} xref: GARD:8387 {source="MONDO:GARD"} @@ -205095,7 +205126,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Berlin syndrome" EXACT [Orphanet:1816] synonym: "ectodermal dysplasia, Berlin type" EXACT [Orphanet:1816] -synonym: "LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis" EXACT [OMIM:246500] +synonym: "LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis" EXACT [] synonym: "LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis" EXACT DEPRECATED [OMIM:246500] xref: GARD:2044 {source="MONDO:GARD"} xref: ICD10CM:Q82.4 {source="Orphanet:1816/attributed", source="Orphanet:1816/ntbt", source="Orphanet:1816"} @@ -205117,7 +205148,7 @@ subset: gard_rare {source="GARD:3248", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:2390"} subset: orphanet_rare {source="Orphanet:2390"} subset: rare -synonym: "Lichtenstein syndrome" EXACT [OMIM:246550] +synonym: "Lichtenstein syndrome" EXACT [OMIM:246550, Orphanet:2390] synonym: "neutropenia immunoglobulin deficiency peculiar facies and bony anomalies" RELATED [GARD:0003248] xref: GARD:3248 {source="MONDO:GARD"} xref: MEDGEN:340889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -205145,8 +205176,8 @@ synonym: "ectrodactyly, spastic paraplegia and mental retardation" RELATED DEPRE synonym: "intellectual disability spasticity ectrodactyly" RELATED [GARD:0003523] synonym: "intellectual disability, spasticity and transverse limb defects" RELATED [GARD:0003523, MESH:C537446] synonym: "Jancar syndrome" EXACT [GARD:0003523, MESH:C537446, Orphanet:1891] -synonym: "limb defects, distal transverse, with intellectual disability and spasticity" RELATED [OMIM:246555] -synonym: "limb defects, distal transverse, with mental retardation and spasticity" RELATED DEPRECATED [OMIM:246555] +synonym: "limb defects, distal transverse, with intellectual disability and spasticity" RELATED [] +synonym: "limb defects, distal transverse, with mental retardation and spasticity" RELATED DEPRECATED [] synonym: "mental retardation spasticity ectrodactyly" RELATED DEPRECATED [GARD:0003523] synonym: "mental retardation, spasticity and transverse limb defects" RELATED DEPRECATED [GARD:0003523, MESH:C537446] xref: GARD:3523 {source="MONDO:GARD"} @@ -205177,19 +205208,19 @@ subset: rare synonym: "10q24 microduplication syndrome" EXACT [Orphanet:1307] synonym: "Buttiens Fryns syndrome" RELATED [GARD:0003252] synonym: "Buttiens-Fryns syndrome" EXACT [Orphanet:1307] -synonym: "chromosome 10Q24 Duplication syndrome" RELATED [OMIM:246560] -synonym: "chromosome 10q24 duplication syndrome" EXACT [DOID:0090025] +synonym: "chromosome 10Q24 Duplication syndrome" RELATED [] +synonym: "chromosome 10q24 duplication syndrome" EXACT [DOID:0090025, OMIM:246560] synonym: "distal limb deficiencies with micrognathia" EXACT [DOID:0090025] -synonym: "distal limb deficiencies-micrognathia syndrome" RELATED [Orphanet:1307] +synonym: "distal limb deficiencies-micrognathia syndrome" RELATED [] synonym: "limb deficiencies distal with micrognathia" RELATED [GARD:0003252] -synonym: "limb deficiencies, distal, with micrognathia" RELATED [OMIM:246560] +synonym: "limb deficiencies, distal, with micrognathia" RELATED [] synonym: "SHFM3" EXACT ABBREVIATION [DOID:0090025, MONDO:Lexical, OMIM:246560] -synonym: "Shsf3" RELATED [OMIM:246560] -synonym: "split hand-foot malformation 3" EXACT CLINGEN_LABEL [] -synonym: "split hand-foot malformation type 3" EXACT [DOID:0090025, MONDORULE:1] -synonym: "split-hand/foot malformation 3" RELATED [MONDO:Lexical, OMIM:246560] -synonym: "split-hand/foot malformation 3, gene duplication syndrome" EXACT [OMIM:246560, OMIM:genemap2] -synonym: "split-hand/foot malformation type 3" EXACT [MONDORULE:1, OMIM:246560] +synonym: "Shsf3" RELATED [] +synonym: "split hand-foot malformation 3" EXACT CLINGEN_LABEL [DOID:0090025] +synonym: "split hand-foot malformation type 3" EXACT [MONDORULE:1] +synonym: "split-hand/foot malformation 3" RELATED [MONDO:Lexical] +synonym: "split-hand/foot malformation 3, gene duplication syndrome" EXACT [] +synonym: "split-hand/foot malformation type 3" EXACT [MONDORULE:1, NCIT:C75121] xref: DOID:0090025 {source="MONDO:equivalentTo"} xref: GARD:3252 {source="MONDO:GARD"} xref: ICD10CM:Q71.6 {source="DOID:0090025"} @@ -205218,9 +205249,9 @@ subset: gard_rare {source="GARD:2622", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:480773"} subset: rare -synonym: "FATCO syndrome" EXACT [OMIM:246570, Orphanet:480773] +synonym: "FATCO syndrome" EXACT [OMIM:246570] synonym: "fibular aplasia, tibial campomelia, and oligosyndactyly syndrome" EXACT [OMIM:246570] -synonym: "fibular aplasia-tibial campomelia-oligosyndactyly syndrome" EXACT [Orphanet:480773] +synonym: "fibular aplasia-tibial campomelia-oligosyndactyly syndrome" EXACT [] synonym: "limb deficiency-heart malformation syndrome" RELATED [GARD:0002622] synonym: "terminal transverse defects of the limbs associated with congenital heart malformations" EXACT [GARD:0002622] xref: GARD:2622 {source="MONDO:GARD"} @@ -205244,12 +205275,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype subset: ordo_subtype_of_a_disorder {source="Orphanet:535453"} subset: rare -synonym: "combined lipase deficiency" EXACT [NCIT:C126558] +synonym: "combined lipase deficiency" EXACT [DOID:0111422, NCIT:C126558] synonym: "lipase deficiency combined" RELATED [GARD:0010244] synonym: "lipase deficiency, combined" EXACT [OMIM:246650] -synonym: "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency" RELATED [OMIM:246650] -synonym: "LPL and HL deficiency" RELATED [OMIM:246650] -synonym: "LPL and HTGL deficiency" RELATED [OMIM:246650] +synonym: "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency" RELATED [] +synonym: "LPL and HL deficiency" RELATED [] +synonym: "LPL and HTGL deficiency" RELATED [] xref: DOID:0111422 {source="MONDO:equivalentTo"} xref: GARD:10244 {source="MONDO:GARD"} xref: MEDGEN:340886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -205275,13 +205306,13 @@ subset: ordo_disorder {source="Orphanet:71"} subset: orphanet_rare {source="Orphanet:71"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Anderson disease" EXACT [DOID:0060357, OMIM:246700, Orphanet:71] -synonym: "chylomicron retention disease" EXACT [MONDO:Lexical, OMIM:246700] +synonym: "Anderson disease" EXACT [DOID:0060357, icd11.foundation:1447416932, OMIM:246700, Orphanet:71] +synonym: "chylomicron retention disease" EXACT [DOID:0060357, icd11.foundation:1447416932, MONDO:Lexical, OMIM:246700, Orphanet:71] synonym: "CMRD" EXACT ABBREVIATION [DOID:0060357, MONDO:Lexical, OMIM:246700, Orphanet:71] synonym: "CRD" EXACT ABBREVIATION [Orphanet:71] -synonym: "hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells" RELATED [OMIM:246700] +synonym: "hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells" RELATED [] synonym: "hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells" RELATED [GARD:0009683] -synonym: "lipid Transport defect of intestine" RELATED [OMIM:246700] +synonym: "lipid Transport defect of intestine" RELATED [] xref: DOID:0060357 {source="MONDO:equivalentTo"} xref: GARD:9683 {source="MONDO:GARD"} xref: ICD10CM:E78.3 {source="DOID:0060357"} @@ -205311,15 +205342,15 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:2394"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dihydrolipoamide dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:246900, Orphanet:2394] -synonym: "DLD deficiency" EXACT [Orphanet:2394] -synonym: "Dld deficiency" RELATED [OMIM:246900] -synonym: "DLDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:246900] -synonym: "E3 deficiency" RELATED [OMIM:246900] +synonym: "DLD deficiency" EXACT [OMIM:246900, Orphanet:2394] +synonym: "Dld deficiency" RELATED [] +synonym: "DLDD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "E3 deficiency" RELATED [] synonym: "E3-deficient maple syrup urine disease" EXACT [Orphanet:2394] -synonym: "lipoamide dehydrogenase deficiency, lactic acidosis due to" RELATED [OMIM:246900] -synonym: "maple syrup urine disease, type 3" RELATED [OMIM:246900] +synonym: "lipoamide dehydrogenase deficiency, lactic acidosis due to" RELATED [] +synonym: "maple syrup urine disease, type 3" RELATED [] synonym: "maple syrup urine disease, type III" RELATED [GARD:0003263] -synonym: "pyruvate dehydrogenase E3 deficiency" EXACT CLINGEN_LABEL [] +synonym: "pyruvate dehydrogenase E3 deficiency" EXACT CLINGEN_LABEL [Orphanet:2394] xref: GARD:3263 {source="MONDO:GARD"} xref: ICD10CM:E74.4 {source="Orphanet:2394/attributed", source="Orphanet:2394/ntbt", source="Orphanet:2394"} xref: MEDGEN:1805500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -205346,14 +205377,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:530"} subset: orphanet_rare {source="Orphanet:530"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyalinosis cutis Et mucosae" RELATED [OMIM:247100] -synonym: "hyalinosis cutis et mucosae" EXACT [Orphanet:530] -synonym: "lipid proteinosis" EXACT [DOID:14498] -synonym: "lipoid proteinosis" EXACT [DOID:14498, OMIM:247100] -synonym: "lipoid proteinosis of Urbach and Wiethe" RELATED [OMIM:247100] +synonym: "hyalinosis cutis Et mucosae" RELATED [] +synonym: "hyalinosis cutis et mucosae" EXACT [icd11.foundation:326368380, OMIM:247100, Orphanet:530] +synonym: "lipid proteinosis" EXACT [DOID:14498, icd11.foundation:326368380] +synonym: "lipoid proteinosis" EXACT [DOID:14498, icd11.foundation:326368380, OMIM:247100, Orphanet:530] +synonym: "lipoid proteinosis of Urbach and Wiethe" RELATED [] synonym: "lipoproteinosis" EXACT [NCIT:C84829] synonym: "Urbach Wiethe disease" RELATED [GARD:0003268] -synonym: "Urbach-Wiethe disease" EXACT [DOID:14498, OMIM:247100, Orphanet:530] +synonym: "Urbach-Wiethe disease" EXACT [DOID:14498, icd11.foundation:326368380, OMIM:247100, Orphanet:530] xref: DOID:14498 {source="MONDO:equivalentTo"} xref: GARD:3268 {source="MONDO:GARD"} xref: ICD10CM:E78.8 {source="Orphanet:530/index", source="Orphanet:530/ntbt", source="Orphanet:530"} @@ -205376,7 +205407,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0009531 name: obsolete lip prints -synonym: "lip prints" EXACT [OMIM:247150] +synonym: "lip prints" EXACT [] xref: OMIM:247150 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -205391,13 +205422,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:531"} subset: orphanet_rare {source="Orphanet:531"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 17P13.3 deletion syndrome" RELATED [OMIM:247200] +synonym: "chromosome 17P13.3 deletion syndrome" RELATED [] synonym: "lissencephaly due to 17p13.3 deletion" EXACT [Orphanet:531] -synonym: "MDLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:247200] -synonym: "MDS" RELATED EXCLUDE [DOID:0060469] -synonym: "Miller-Dieker lissencephaly syndrome" EXACT [MONDO:Lexical, OMIM:247200] -synonym: "Miller-Dieker syndrome" EXACT [DOID:0060469] -synonym: "Miller-Dieker syndrome chromosome region" RELATED [OMIM:247200] +synonym: "MDLS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "MDS" RELATED EXCLUDE [] +synonym: "Miller-Dieker lissencephaly syndrome" EXACT [DOID:0060469, MONDO:Lexical, NCIT:C124852, OMIM:247200] +synonym: "Miller-Dieker syndrome" EXACT [DOID:0060469, NCIT:C124852, Orphanet:531] +synonym: "Miller-Dieker syndrome chromosome region" RELATED [] synonym: "monosomy 17p13.3" EXACT [Orphanet:531] synonym: "telomeric deletion 17p" EXACT [Orphanet:531] xref: DECIPHER:21 {source="MONDO:equivalentTo"} @@ -205434,7 +205465,7 @@ subset: rare synonym: "Dahlberg Borer Newcomer syndrome" RELATED [GARD:0000237] synonym: "Dahlberg syndrome" EXACT [Orphanet:1563] synonym: "hypoparathyroidism lymphedema syndrome" RELATED [GARD:0000237] -synonym: "hypoparathyroidism-lymphedema syndrome" RELATED [OMIM:247410] +synonym: "hypoparathyroidism-lymphedema syndrome" RELATED [] synonym: "lymphedema hypoparathyroidism syndrome" RELATED [GARD:0000237] synonym: "lymphedema-hypoparathyroidism syndrome" EXACT [OMIM:247410, Orphanet:1563] xref: GARD:237 {source="MONDO:GARD"} @@ -205467,7 +205498,7 @@ is_a: MONDO:0015279 {source="https://orcid.org/0000-0001-5208-3432"} ! chronic m id: MONDO:0009535 name: obsolete lymphedema, congenital recessive comment: Obsoleted in OMIM. -synonym: "lymphedema, congenital recessive" EXACT [OMIM:247440] +synonym: "lymphedema, congenital recessive" EXACT [] xref: MESH:C565432 {source="MONDO:obsoleteEquivalent"} xref: OMIM:247440 {source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:79452 {source="OMIM:247440"} @@ -205481,8 +205512,8 @@ id: MONDO:0009536 name: chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "lymphoblastic transformation, intrinsic defect IN" RELATED [OMIM:247450] -synonym: "lymphoblastic transformation, intrinsic defect type 1N" EXACT [MONDORULE:4, OMIM:247450] +synonym: "lymphoblastic transformation, intrinsic defect IN" RELATED [] +synonym: "lymphoblastic transformation, intrinsic defect type 1N" EXACT [MONDORULE:4] xref: MEDGEN:340881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565431 {source="MONDO:equivalentTo"} xref: OMIM:247450 {source="MONDO:equivalentTo"} @@ -205499,11 +205530,11 @@ subset: ordo_disorder {source="Orphanet:79128"} subset: orphanet_rare {source="Orphanet:79128"} subset: rare synonym: "diffuse hyperplasia of bronchus-associated lymphoid tissue" EXACT [NCIT:C27558] -synonym: "LIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:247610] -synonym: "lymphocytic interst. pneumonitis" EXACT [NCIT:C27558] -synonym: "lymphocytic interstitial pneumonia" EXACT [Orphanet:79128] +synonym: "LIP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lymphocytic interst. pneumonitis" EXACT [] +synonym: "lymphocytic interstitial pneumonia" EXACT [icd11.foundation:1140418798, NCIT:C27558, Orphanet:79128] synonym: "lymphocytic interstitial pneumonitis" EXACT [NCIT:C27558] -synonym: "lymphoid interstitial pneumonia" EXACT [MONDO:Lexical, OMIM:247610] +synonym: "lymphoid interstitial pneumonia" EXACT [DOID:0050159, ICD10CM:J84.2, icd11.foundation:1140418798, MONDO:Lexical, OMIM:247610, Orphanet:79128] xref: DOID:0050159 {source="MONDO:equivalentTo"} xref: GARD:16700 {source="MONDO:GARD"} xref: ICD10CM:J84.1 {source="Orphanet:79128", source="Orphanet:79128/ntbt"} @@ -205537,10 +205568,10 @@ name: lymphoblastic leukemia, acute, with lymphomatous features subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "lall" RELATED [MONDO:Lexical, OMIM:247640] -synonym: "leukemia, acute lymphoblastic" EXACT [OMIM:247640, OMIM:genemap2] +synonym: "lall" RELATED [MONDO:Lexical] +synonym: "leukemia, acute lymphoblastic" EXACT [] synonym: "lymphoblastic leukemia, acute, with lymphomatous features" EXACT [MONDO:Lexical, OMIM:247640] -synonym: "lymphomatous All" RELATED [OMIM:247640] +synonym: "lymphomatous All" RELATED [] xref: MEDGEN:340879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565429 {source="MONDO:equivalentTo"} xref: OMIM:247640 {source="MONDO:equivalentTo"} @@ -205621,7 +205652,7 @@ synonym: "Fryns Dereymaeker Haegeman syndrome" RELATED [GARD:0000148] synonym: "intellectual disability, macrocephaly, short stature and craniofacial dysmorphism" RELATED [GARD:0000148] synonym: "macrocephaly/megalencephaly syndrome, autosomal recessive" EXACT [MONDO:Lexical, OMIM:248000] synonym: "mental retardation, macrocephaly, short stature and craniofacial dysmorphism" RELATED DEPRECATED [GARD:0000148] -synonym: "MGCPH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248000] +synonym: "MGCPH" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:812742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537453 {source="MONDO:equivalentTo"} xref: OMIM:248000 {source="MONDO:equivalentTo", source="GARD:0000148"} @@ -205665,7 +205696,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "macrosomia microphthalmia cleft palate" RELATED [GARD:0000177] synonym: "macrosomia with lethal microphthalmia" RELATED [GARD:0000177] -synonym: "macrosomia with microphthalmia, lethal" RELATED [OMIM:248110] +synonym: "macrosomia with microphthalmia, lethal" RELATED [] synonym: "Teebi Al-Saleh Hassoon syndrome" RELATED [GARD:0000177] synonym: "Teebi-Al Saleh-Hassoon syndrome" EXACT [Orphanet:2432] xref: GARD:177 {source="MONDO:GARD"} @@ -205688,16 +205719,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bilateral macular coloboma with hypercalciuria" EXACT [DOID:0060881] synonym: "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" EXACT [DOID:0060881] -synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement" RELATED [Orphanet:2196] +synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement" RELATED [] synonym: "FHHNC with severe ocular involvement" EXACT [DOID:0060881, OMIM:248190, Orphanet:2196] synonym: "FHHNCOI" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] -synonym: "HOMG5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248190] +synonym: "HOMG5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hypercalciuria-bilateral macular coloboma syndrome" EXACT [DOID:0060881, Orphanet:2196] -synonym: "hypomagnesemia 5, renal, with ocular involvement" RELATED [MONDO:Lexical, OMIM:248190] -synonym: "hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement" RELATED [OMIM:248190] -synonym: "hypomagnesemia, renal, with ocular involvement" RELATED [OMIM:248190] +synonym: "hypomagnesemia 5, renal, with ocular involvement" RELATED [MONDO:Lexical] +synonym: "hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement" RELATED [] +synonym: "hypomagnesemia, renal, with ocular involvement" RELATED [] synonym: "idiopathic hypercalciuria with bilateral macular colobomata" RELATED [GARD:0003451, MESH:C536148] -synonym: "macular coloboma, bilateral, with hypercalciuria" RELATED [OMIM:248190] +synonym: "macular coloboma, bilateral, with hypercalciuria" RELATED [] synonym: "Meier Blumberg Imahorn syndrome" RELATED [GARD:0003451] synonym: "Meier-Blumberg-Imahorn syndrome" EXACT [DOID:0060881, Orphanet:2196] xref: DOID:0060881 {source="MONDO:equivalentTo"} @@ -205727,15 +205758,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "early-onset severe retinal dystrophy" EXACT [Orphanet:364055] synonym: "EOSRD" EXACT ABBREVIATION [Orphanet:364055] -synonym: "fundus flavimaculatus" RELATED [OMIM:248200] -synonym: "macular Degeneration, juvenile" RELATED [OMIM:248200] -synonym: "macular dystrophy with flecks, type 1" RELATED [OMIM:248200] -synonym: "retinal dystrophy, early-onset severe" RELATED [OMIM:248200] +synonym: "fundus flavimaculatus" RELATED [] +synonym: "macular Degeneration, juvenile" RELATED [] +synonym: "macular dystrophy with flecks, type 1" RELATED [] +synonym: "retinal dystrophy, early-onset severe" RELATED [] synonym: "SECORD" EXACT ABBREVIATION [Orphanet:364055] -synonym: "Stargardt disease 1" RELATED [MONDO:Lexical, OMIM:248200] -synonym: "Stargardt disease type 1" EXACT [MONDORULE:1, OMIM:248200] -synonym: "Stgd" RELATED [OMIM:248200] -synonym: "STGD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248200] +synonym: "Stargardt disease 1" RELATED [MONDO:Lexical] +synonym: "Stargardt disease type 1" EXACT [MONDORULE:1] +synonym: "Stgd" RELATED [] +synonym: "STGD1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:21565 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:364055", source="MONDO:relatedTo", source="Orphanet:364055/attributed", source="Orphanet:364055/ntbt"} xref: MEDGEN:383691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -205763,13 +205794,13 @@ synonym: "familial primary hypomagnesemia caused by mutation in CLDN16" EXACT [] synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" EXACT [DOID:0060880] synonym: "FHHNC without severe ocular involvement" EXACT [DOID:0060880, Orphanet:31043] synonym: "HOMG3" EXACT ABBREVIATION [DOID:0060880, MESH:C537153, MONDO:Lexical, OMIM:248250, Orphanet:31043] -synonym: "hypercalciuria, childhood, self-limiting" RELATED [OMIM:248250] -synonym: "hypomagnesemia 3, renal" RELATED [MESH:C537153, MONDO:Lexical, OMIM:248250] -synonym: "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis" RELATED [MESH:C537153, OMIM:248250] +synonym: "hypercalciuria, childhood, self-limiting" RELATED [] +synonym: "hypomagnesemia 3, renal" RELATED [MESH:C537153, MONDO:Lexical] +synonym: "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis" RELATED [MESH:C537153] synonym: "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included" RELATED [MESH:C537153] -synonym: "hypomagnesemia, isolated renal" RELATED [MESH:C537153, OMIM:248250] +synonym: "hypomagnesemia, isolated renal" RELATED [MESH:C537153] synonym: "hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium" RELATED [MESH:C537153] -synonym: "hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium" RELATED [OMIM:248250] +synonym: "hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium" RELATED [] synonym: "isolated renal hypomagnesemia" EXACT [DOID:0060880] synonym: "magnesium, defect in renal tubular transport of" RELATED [MESH:C537153] synonym: "primary hypomagnesemia caused by mutation in CLDN16" EXACT [MONDO:design_pattern] @@ -205812,12 +205843,12 @@ subset: orphanet_rare {source="Orphanet:87503"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "keratosis palmoplantaris transgradiens of Siemens" RELATED [GARD:0000092] -synonym: "keratosis palmoplantaris transgrediens of Siemens" EXACT [DOID:0060862, OMIM:248300, Orphanet:87503] -synonym: "MAL DE Meleda" RELATED [OMIM:248300] -synonym: "mal de Meleda" EXACT CLINGEN_LABEL [GARD:0000092, MONDO:Lexical, OMIM:248300] -synonym: "MDM" RELATED ABBREVIATION [GARD:0000092, MONDO:Lexical, OMIM:248300] -synonym: "Meleda Disease" EXACT [NORD:1428] -synonym: "Meleda disease" EXACT [DOID:0060862, OMIM:248300, Orphanet:87503] +synonym: "keratosis palmoplantaris transgrediens of Siemens" EXACT [DOID:0060862, icd11.foundation:1850911834, OMIM:248300, Orphanet:87503] +synonym: "MAL DE Meleda" RELATED [] +synonym: "mal de Meleda" EXACT CLINGEN_LABEL [DOID:0060862, GARD:0000092, icd11.foundation:1850911834, MONDO:Lexical, Orphanet:87503] +synonym: "MDM" RELATED ABBREVIATION [GARD:0000092, MONDO:Lexical] +synonym: "Meleda Disease" EXACT [DOID:0060862, icd11.foundation:1850911834, NORD:1428, OMIM:248300, Orphanet:87503] +synonym: "Meleda disease" EXACT [DOID:0060862, icd11.foundation:1850911834, OMIM:248300, Orphanet:87503] synonym: "transgrediens palmoplantar keratoderma of Siemens" EXACT [DOID:0060862, Orphanet:87503] xref: DOID:0060862 {source="MONDO:equivalentTo"} xref: GARD:92 {source="MONDO:GARD"} @@ -205841,10 +205872,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009553 name: obsolete Plasmodium falciparum blood infection level comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "malaria, intensity of infection" EXACT [OMIM:248310, OMIM:genemap2] -synonym: "Pfbi" RELATED [OMIM:248310] -synonym: "Plasmodium falciparum blood infection level" EXACT [OMIM:248310] -synonym: "Plasmodium falciparum parasitemia" RELATED [OMIM:248310] +synonym: "malaria, intensity of infection" EXACT [] +synonym: "Pfbi" RELATED [] +synonym: "Plasmodium falciparum blood infection level" EXACT [] +synonym: "Plasmodium falciparum parasitemia" RELATED [] xref: OMIM:248310 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -205858,15 +205889,15 @@ def: "Any 3MC syndrome in which the cause of the disease is a mutation in the CO subset: gard_rare {source="GARD:8531", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "3MC syndrome 3" EXACT [MONDO:Lexical, OMIM:248340] +synonym: "3MC syndrome 3" EXACT [DOID:0060577, MONDO:Lexical, OMIM:248340] synonym: "3MC syndrome caused by mutation in COLEC10" EXACT [MONDO:design_pattern] -synonym: "3MC syndrome type 3" EXACT [DOID:0060577, MONDORULE:1] -synonym: "3Mc syndrome type 3" EXACT [MONDORULE:1, OMIM:248340] -synonym: "3MC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248340] +synonym: "3MC syndrome type 3" EXACT [MONDORULE:1] +synonym: "3Mc syndrome type 3" EXACT [MONDORULE:1] +synonym: "3MC3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "COLEC10 3MC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "facial clefting syndrome, Gypsy type" RELATED [OMIM:248340] -synonym: "Malpuech Facial clefting syndrome" RELATED [OMIM:248340] -synonym: "Malpuech Facial clefting syndrome, formerly" RELATED [OMIM:248340] +synonym: "facial clefting syndrome, Gypsy type" RELATED [] +synonym: "Malpuech Facial clefting syndrome" RELATED [] +synonym: "Malpuech Facial clefting syndrome, formerly" RELATED [] xref: DOID:0060577 {source="MONDO:equivalentTo"} xref: GARD:8531 {source="MONDO:GARD"} xref: MEDGEN:208657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -205902,9 +205933,9 @@ subset: orphanet_rare {source="Orphanet:943"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "malonic acidemia" RELATED [GARD:0003371] -synonym: "malonic aciduria" EXACT CLINGEN_LABEL [] +synonym: "malonic aciduria" EXACT CLINGEN_LABEL [icd11.foundation:1373430210, Orphanet:943] synonym: "Malonicaciduria" RELATED [GARD:0003371] -synonym: "malonyl-CoA decarboxylase deficiency" EXACT [OMIM:248360, Orphanet:943] +synonym: "malonyl-CoA decarboxylase deficiency" EXACT [icd11.foundation:1373430210, OMIM:248360, Orphanet:943] synonym: "MCD deficiency" RELATED [GARD:0003371] xref: GARD:3371 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:943/attributed", source="Orphanet:943/ntbt", source="Orphanet:943"} @@ -205930,13 +205961,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:90153"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "craniomandibular Dermatodysostosis" RELATED [OMIM:248370] -synonym: "lipodystrophy, type A, associated with Mandibuloacral dysplasia" RELATED [OMIM:248370] -synonym: "MADA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248370] -synonym: "mandibuloacral dysplasia" BROAD [OMIM:248370, OMIM:genemap2] -synonym: "MANDIBULOACRAL dysplasia with type A lipodystrophy" RELATED [OMIM:248370] -synonym: "mandibuloacral dysplasia with type A lipodystrophy" EXACT [MONDO:Lexical, OMIM:248370] -synonym: "Mandibuloacral dysplasia with type a lipodystrophy, atypical" RELATED [OMIM:248370] +synonym: "craniomandibular Dermatodysostosis" RELATED [] +synonym: "lipodystrophy, type A, associated with Mandibuloacral dysplasia" RELATED [] +synonym: "MADA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mandibuloacral dysplasia" BROAD [] +synonym: "MANDIBULOACRAL dysplasia with type A lipodystrophy" RELATED [] +synonym: "mandibuloacral dysplasia with type A lipodystrophy" EXACT [icd11.foundation:1756335062, MONDO:Lexical, NCIT:C123417, OMIM:248370, Orphanet:90153] +synonym: "Mandibuloacral dysplasia with type a lipodystrophy, atypical" RELATED [] xref: DOID:0081128 {source="MONDO:equivalentTo"} xref: GARD:3374 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:90153/attributed", source="Orphanet:90153/ntbt", source="Orphanet:90153"} @@ -205964,12 +205995,12 @@ def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutat subset: gard_rare {source="GARD:9125", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "mandibulofacial dysostosis, Treacher Collins type, autosomal recessive" RELATED [OMIM:248390] +synonym: "mandibulofacial dysostosis, Treacher Collins type, autosomal recessive" RELATED [] synonym: "POLR1C Treacher-Collins syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "TCS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248390] -synonym: "TREACHER COLLINS syndrome 3" RELATED [OMIM:248390] -synonym: "Treacher Collins syndrome 3" EXACT [MONDO:Lexical, OMIM:248390] -synonym: "Treacher Collins syndrome type 3" EXACT [MONDORULE:1, OMIM:248390] +synonym: "TCS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "TREACHER COLLINS syndrome 3" RELATED [] +synonym: "Treacher Collins syndrome 3" EXACT [DOID:0080791, MONDO:Lexical, OMIM:248390] +synonym: "Treacher Collins syndrome type 3" EXACT [MONDORULE:1] synonym: "Treacher-Collins syndrome caused by mutation in POLR1C" EXACT [MONDO:design_pattern] xref: DOID:0080791 {source="MONDO:equivalentTo"} xref: GARD:9125 {source="MONDO:GARD"} @@ -205989,9 +206020,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9125/treache id: MONDO:0009559 name: mandibulofacial dysostosis with mental deficiency subset: otar {source="MONDO:OTAR"} -synonym: "mandibulofacial dysostosis with intellectual disability" RELATED [OMIM:248400] -synonym: "mandibulofacial dysostosis with mental deficiency" EXACT [OMIM:248400] -synonym: "mandibulofacial dysostosis with mental retardation" RELATED DEPRECATED [OMIM:248400] +synonym: "mandibulofacial dysostosis with intellectual disability" RELATED [] +synonym: "mandibulofacial dysostosis with mental deficiency" EXACT [] +synonym: "mandibulofacial dysostosis with mental retardation" RELATED DEPRECATED [] xref: MEDGEN:1632207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565420 {source="MONDO:equivalentTo"} xref: OMIM:248400 {source="MONDO:equivalentTo"} @@ -206008,12 +206039,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2717"} subset: orphanet_rare {source="Orphanet:2717"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MANITOBA oculotrichoanal syndrome" RELATED [MONDO:Lexical, OMIM:248450] -synonym: "Manitoba oculotrichoanal syndrome" EXACT [Orphanet:2717] +synonym: "MANITOBA oculotrichoanal syndrome" RELATED [MONDO:Lexical] +synonym: "Manitoba oculotrichoanal syndrome" EXACT [OMIM:248450, Orphanet:2717] synonym: "Manitoba Trichoanal syndrome" RELATED [GARD:0003395] synonym: "Marles syndrome" EXACT [OMIM:248450, Orphanet:2717] synonym: "Marles-Greenberg-Persaud syndrome" EXACT [Orphanet:2717] -synonym: "MOTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248450] +synonym: "MOTA" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MOTA syndrome" EXACT [Orphanet:2717] synonym: "unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies" RELATED [GARD:0003395] xref: GARD:3395 {source="MONDO:GARD"} @@ -206042,16 +206073,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Alpha mannosidase B deficiency" RELATED [GARD:0006968] synonym: "Alpha-D-mannosidosis" EXACT [DOID:3413] -synonym: "Alpha-mannosidase B deficiency" RELATED [OMIM:248500] +synonym: "Alpha-mannosidase B deficiency" RELATED [] synonym: "alpha-mannosidase deficiency" EXACT [DOID:3413] -synonym: "alpha-mannosidosis" EXACT CLINGEN_LABEL [OMIM:248500] +synonym: "alpha-mannosidosis" EXACT CLINGEN_LABEL [DOID:3413, icd11.foundation:1944256516, NCIT:C84548, OMIM:248500, Orphanet:61] synonym: "deficiency of alpha-mannosidase" EXACT [DOID:3413] -synonym: "lysosomal Alpha-D-mannosidase deficiency" RELATED [OMIM:248500] -synonym: "lysosomal alpha-D-mannosidase deficiency" EXACT [Orphanet:61] +synonym: "lysosomal Alpha-D-mannosidase deficiency" RELATED [] +synonym: "lysosomal alpha-D-mannosidase deficiency" EXACT [icd11.foundation:1944256516, OMIM:248500, Orphanet:61] synonym: "mannosidosis, alpha B lysosomal" RELATED [GARD:0006968] -synonym: "mannosidosis, ALPHA B, lysosomal" RELATED [MONDO:Lexical, OMIM:248500] -synonym: "mannosidosis, alpha-, types I and II" EXACT [OMIM:248500, OMIM:genemap2] -synonym: "MANSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248500] +synonym: "mannosidosis, ALPHA B, lysosomal" RELATED [MONDO:Lexical] +synonym: "mannosidosis, alpha-, types I and II" EXACT [] +synonym: "MANSA" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:3413 {source="MONDO:equivalentTo"} xref: GARD:6968 {source="MONDO:GARD"} xref: ICD10CM:E77.1 {source="Orphanet:61/ntbt", source="Orphanet:61/inclusion", source="Orphanet:61"} @@ -206092,14 +206123,14 @@ subset: orphanet_rare {source="Orphanet:118"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Beta-D-mannosidosis" EXACT [DOID:3633] -synonym: "Beta-mannosidase deficiency" EXACT [OMIM:248510, Orphanet:118] -synonym: "beta-mannosidase deficiency" EXACT [DOID:3633] -synonym: "beta-mannosidosis" EXACT [OMIM:248510] -synonym: "lysosomal Beta-mannosidase deficiency" RELATED [OMIM:248510] -synonym: "lysosomal beta-mannosidase deficiency" EXACT [DOID:3633] -synonym: "mannosidosis, beta" EXACT [OMIM:248510, OMIM:genemap2] -synonym: "mannosidosis, BETA A, lysosomal" RELATED [MONDO:Lexical, OMIM:248510] -synonym: "MANSB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248510] +synonym: "Beta-mannosidase deficiency" EXACT [DOID:3633, OMIM:248510, Orphanet:118] +synonym: "beta-mannosidase deficiency" EXACT [DOID:3633, OMIM:248510, Orphanet:118] +synonym: "beta-mannosidosis" EXACT [DOID:3633, icd11.foundation:1578707401, NCIT:C84596, OMIM:248510, Orphanet:118] +synonym: "lysosomal Beta-mannosidase deficiency" RELATED [] +synonym: "lysosomal beta-mannosidase deficiency" EXACT [DOID:3633, icd11.foundation:1578707401, OMIM:248510] +synonym: "mannosidosis, beta" EXACT [] +synonym: "mannosidosis, BETA A, lysosomal" RELATED [MONDO:Lexical] +synonym: "MANSB" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:3633 {source="MONDO:equivalentTo"} xref: GARD:869 {source="MONDO:GARD"} xref: ICD10CM:E77.1 {source="Orphanet:118/inclusion", source="Orphanet:118/ntbt", source="Orphanet:118"} @@ -206139,22 +206170,22 @@ subset: prototype_pattern subset: rare synonym: "BCKD deficiency" EXACT [Orphanet:511] synonym: "BCKDH deficiency" EXACT [Orphanet:511] -synonym: "branched chain ketoaciduria" EXACT [DOID:9269] +synonym: "branched chain ketoaciduria" EXACT [DOID:9269, icd11.foundation:1623706568] synonym: "branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:511] -synonym: "branched-chain Alpha-Keto acid dehydrogenase deficiency" RELATED [OMIM:248600] -synonym: "branched-chain ketoaciduria" EXACT [OMIM:248600, Orphanet:511] -synonym: "dihydrolipoamide dehydrogenase deficiency" RELATED [DOID:9269, OMIM:246900] -synonym: "Keto acid decarboxylase deficiency" RELATED [OMIM:248600] -synonym: "Ketoacidaemia" EXACT [DOID:9269] -synonym: "maple syrup urine disease" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:248600] -synonym: "maple syrup urine disease, classic" RELATED [OMIM:248600] -synonym: "maple syrup urine disease, Intermediate" RELATED [OMIM:248600] -synonym: "maple syrup urine disease, intermittent" RELATED [OMIM:248600] -synonym: "maple syrup urine disease, thiamine-responsive" RELATED [OMIM:248600] -synonym: "maple syrup urine disease, type 1A" NARROW [OMIM:248600] -synonym: "maple syrup urine disease, type 1B" NARROW [OMIM:248600] -synonym: "maple syrup urine disease, type 2" NARROW [OMIM:248600] -synonym: "MSUD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:248600, Orphanet:511] +synonym: "branched-chain Alpha-Keto acid dehydrogenase deficiency" RELATED [] +synonym: "branched-chain ketoaciduria" EXACT [Orphanet:511] +synonym: "dihydrolipoamide dehydrogenase deficiency" RELATED [DOID:9269] +synonym: "Keto acid decarboxylase deficiency" RELATED [] +synonym: "Ketoacidaemia" EXACT [DOID:9269, icd11.foundation:1623706568] +synonym: "maple syrup urine disease" EXACT CLINGEN_LABEL [DOID:9269, MONDO:Lexical, NCIT:C34806, OMIMPS:248600, Orphanet:511] +synonym: "maple syrup urine disease, classic" RELATED [] +synonym: "maple syrup urine disease, Intermediate" RELATED [] +synonym: "maple syrup urine disease, intermittent" RELATED [] +synonym: "maple syrup urine disease, thiamine-responsive" RELATED [] +synonym: "maple syrup urine disease, type 1A" NARROW [] +synonym: "maple syrup urine disease, type 1B" NARROW [] +synonym: "maple syrup urine disease, type 2" NARROW [] +synonym: "MSUD" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:511] xref: DOID:9269 {source="MONDO:equivalentTo"} xref: GARD:3228 {source="MONDO:GARD"} xref: ICD10CM:E71.0 {source="Orphanet:511", source="MONDO:equivalentTo", source="Orphanet:511/e", source="DOID:9269", source="Orphanet:511/specific"} @@ -206197,10 +206228,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "connective tissue disorder Marden Walker type" RELATED [GARD:0006973] synonym: "Marden Walker Syndrome" EXACT [NORD:1402] -synonym: "MARDEN-WALKER syndrome" RELATED [OMIM:248700] -synonym: "Marden-Walker syndrome" EXACT [MONDO:Lexical, OMIM:248700] -synonym: "MWKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:248700] -synonym: "Mws" RELATED [OMIM:248700] +synonym: "MARDEN-WALKER syndrome" RELATED [] +synonym: "Marden-Walker syndrome" EXACT [icd11.foundation:1983460876, MONDO:Lexical, OMIM:248700, Orphanet:2461] +synonym: "MWKS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Mws" RELATED [] xref: GARD:6973 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:2461/attributed", source="Orphanet:2461/ntbt", source="Orphanet:2461"} xref: icd11.foundation:1983460876 {source="MONDO:equivalentTo"} @@ -206230,7 +206261,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2172"} subset: orphanet_rare {source="Orphanet:2172"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MARFANOID habitus with microcephaly and glomerulonephritis" RELATED [OMIM:248760] +synonym: "MARFANOID habitus with microcephaly and glomerulonephritis" RELATED [] synonym: "microcephaly glomerulonephritis Marfanoid habitus" RELATED [GARD:0003615] xref: GARD:3615 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2172/attributed", source="Orphanet:2172/ntbt", source="Orphanet:2172"} @@ -206255,9 +206286,9 @@ subset: orphanet_rare {source="Orphanet:2463"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Marfanoid intellectual disability syndrome autosomal" RELATED [GARD:0003388] -synonym: "MARFANOID intellectual disability syndrome, autosomal" RELATED [OMIM:248770] +synonym: "MARFANOID intellectual disability syndrome, autosomal" RELATED [] synonym: "Marfanoid mental retardation syndrome autosomal" RELATED DEPRECATED [GARD:0003388] -synonym: "MARFANOID mental retardation syndrome, autosomal" RELATED DEPRECATED [OMIM:248770] +synonym: "MARFANOID mental retardation syndrome, autosomal" RELATED DEPRECATED [] xref: GARD:3388 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2463", source="Orphanet:2463/attributed", source="Orphanet:2463/ntbt"} xref: MEDGEN:343326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -206283,13 +206314,13 @@ subset: rare synonym: "Garland-Moorhouse syndrome" EXACT [DOID:0080195] synonym: "hereditary oligophrenic cerebello-lental degeneration" EXACT [DOID:0080195] synonym: "Marinesco-Garland syndrome" EXACT [DOID:0080195] -synonym: "Marinesco-Sjogren syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:248800] +synonym: "Marinesco-Sjogren syndrome" EXACT CLINGEN_LABEL [DOID:0080195, MONDO:Lexical, OMIM:248800] synonym: "Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism" RELATED [GARD:0008341] synonym: "Marinesco-Sjogren syndrome-myopathy" RELATED [GARD:0008341] synonym: "Marinesco-Sjogren-Garland syndrome" RELATED [GARD:0008341] -synonym: "Marinesco-Sjögren syndrome" RELATED [Orphanet:559] +synonym: "Marinesco-Sjögren syndrome" RELATED [] synonym: "Marshall Smith Syndrome" EXACT [NORD:1406] -synonym: "MSS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:248800] +synonym: "MSS" BROAD ABBREVIATION [MONDO:Lexical] synonym: "oligophrenic cerebellolenticular degeneration" EXACT [DOID:0080195] xref: DOID:0080195 {source="MONDO:equivalentTo"} xref: GARD:8341 {source="MONDO:GARD"} @@ -206323,11 +206354,11 @@ subset: orphanet_rare {source="Orphanet:101001"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 21" EXACT [DOID:0060245] -synonym: "autosomal recessive spastic paraplegia type 21" EXACT [DOID:0060245] +synonym: "autosomal recessive spastic paraplegia type 21" EXACT [DOID:0060245, Orphanet:101001] synonym: "hereditary spastic paraplegia 21" EXACT [DOID:0060245] -synonym: "Mast syndrome" EXACT [Orphanet:101001] -synonym: "mast syndrome" EXACT CLINGEN_LABEL [OMIM:248900] -synonym: "spastic paraplegia 21, autosomal recessive" RELATED [OMIM:248900] +synonym: "Mast syndrome" EXACT [DOID:0060245, OMIM:248900, Orphanet:101001] +synonym: "mast syndrome" EXACT CLINGEN_LABEL [DOID:0060245, OMIM:248900, Orphanet:101001] +synonym: "spastic paraplegia 21, autosomal recessive" RELATED [] synonym: "SPG21" EXACT ABBREVIATION [DOID:0060245, Orphanet:101001] xref: DOID:0060245 {source="MONDO:equivalentTo"} xref: GARD:16939 {source="MONDO:GARD"} @@ -206352,7 +206383,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2135"} subset: orphanet_rare {source="Orphanet:2135"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cutaneous mastocytosis, conductive hearing loss and microtia" RELATED [OMIM:248910] +synonym: "cutaneous mastocytosis, conductive hearing loss and microtia" RELATED [] synonym: "Hennekam Beemer syndrome" RELATED [GARD:0003409] synonym: "mastocytosis cutaneous with short stature conductive hearing loss and microtia" RELATED [GARD:0003409] synonym: "mastocytosis-short stature-hearing loss syndrome" EXACT [Orphanet:2135] @@ -206382,7 +206413,7 @@ subset: orphanet_rare {source="Orphanet:2471"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" RELATED [GARD:0003424] -synonym: "McDonough syndrome" EXACT [OMIM:248950] +synonym: "McDonough syndrome" EXACT [icd11.foundation:1349711155, OMIM:248950, Orphanet:2471] synonym: "mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" RELATED DEPRECATED [GARD:0003424] xref: GARD:3424 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2471/attributed", source="Orphanet:2471/ntbt", source="Orphanet:2471"} @@ -206406,17 +206437,17 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Dysencephalia splachnocystica" RELATED [MESH:C536133] -synonym: "Dysencephalia Splanchnocystica" RELATED [MESH:C536133, OMIM:249000] -synonym: "Gruber syndrome" RELATED [MESH:C536133, OMIM:249000] +synonym: "Dysencephalia Splanchnocystica" RELATED [MESH:C536133] +synonym: "Gruber syndrome" RELATED [MESH:C536133] synonym: "Meckel Gruber syndrome" RELATED [MESH:C536133] -synonym: "Meckel syndrome" RELATED [MESH:C536133, OMIM:249000] -synonym: "Meckel syndrome 1" RELATED [DOID:0070115] +synonym: "Meckel syndrome" RELATED [MESH:C536133] +synonym: "Meckel syndrome 1" RELATED [] synonym: "Meckel syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome type1" RELATED [MESH:C536133] synonym: "Meckel syndrome, type 1" EXACT [MESH:C536133, MONDO:Lexical, OMIM:249000] -synonym: "Meckel-Gruber syndrome" RELATED [MESH:C536133, OMIM:249000] +synonym: "Meckel-Gruber syndrome" RELATED [MESH:C536133] synonym: "Meckel-Gruber syndrome, type 1" EXACT [DOID:0070115, MESH:C536133, OMIM:249000] -synonym: "Mes" RELATED [MESH:C536133, OMIM:249000] +synonym: "Mes" RELATED [MESH:C536133] synonym: "MKS" RELATED ABBREVIATION [MESH:C536133] synonym: "MKS1" EXACT ABBREVIATION [DOID:0070115, MESH:C536133, MONDO:Lexical, OMIM:249000] synonym: "MKS1 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -206442,13 +206473,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive familial Mediterranean fever" EXACT CLINGEN_LABEL [] -synonym: "familial MEDITERRANEAN FEVER" RELATED [OMIM:249100] -synonym: "familial Mediterranean fever" RELATED [MONDO:Lexical, OMIM:249100] -synonym: "familial Mediterranean fever, AR" EXACT [OMIM:249100, OMIM:genemap2] +synonym: "familial MEDITERRANEAN FEVER" RELATED [] +synonym: "familial Mediterranean fever" RELATED [MONDO:Lexical] +synonym: "familial Mediterranean fever, AR" EXACT [] synonym: "familial Mediterranean fever, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:249100] -synonym: "FMF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249100] -synonym: "polyserositis, familial paroxysmal" RELATED [OMIM:249100] -synonym: "polyserositis, recurrent" RELATED [OMIM:249100] +synonym: "FMF" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "polyserositis, familial paroxysmal" RELATED [] +synonym: "polyserositis, recurrent" RELATED [] xref: NANDO:1200864 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: OMIM:249100 {source="MONDO:equivalentTo"} xref: Orphanet:342 {source="OMIM:249100"} @@ -206472,7 +206503,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3444/megaepi [Term] id: MONDO:0009574 name: megalencephaly with dysmyelination -synonym: "megalencephaly with diffuse white matter hypodensity" RELATED [OMIM:249240] +synonym: "megalencephaly with diffuse white matter hypodensity" RELATED [] synonym: "megalencephaly with dysmyelination" EXACT [OMIM:249240] xref: MEDGEN:344470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565408 {source="MONDO:equivalentTo"} @@ -206492,19 +206523,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "megaloblastic anaemia thiamine-responsive with diabetes mellitus and sensorineural deafness" RELATED OMO:0003005 [] synonym: "megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness" RELATED [GARD:0009210] -synonym: "megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness" RELATED [OMIM:249270] -synonym: "Rogers syndrome" EXACT [DOID:0090117, Orphanet:49827] -synonym: "thiamine metabolism dysfunction syndrome 1" EXACT [DOID:0090117] -synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)" EXACT [DOID:0090117] -synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)" RELATED [OMIM:249270] +synonym: "megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness" RELATED [] +synonym: "Rogers syndrome" EXACT [DOID:0090117, OMIM:249270, Orphanet:49827] +synonym: "thiamine metabolism dysfunction syndrome 1" EXACT [DOID:0090117, OMIM:249270] +synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)" EXACT [] +synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type)" RELATED [] synonym: "thiamine responsive megaloblastic anaemia syndrome" RELATED OMO:0003005 [] synonym: "thiamine responsive megaloblastic anemia syndrome" RELATED [GARD:0009210] synonym: "thiamine-responsive Anaemia syndrome" RELATED OMO:0003005 [] -synonym: "thiamine-responsive anaemia syndrome" EXACT OMO:0003005 [] -synonym: "thiamine-responsive Anemia syndrome" RELATED [OMIM:249270] -synonym: "thiamine-responsive anemia syndrome" EXACT [DOID:0090117] -synonym: "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness" EXACT OMO:0003005 [] -synonym: "thiamine-responsive megaloblastic anemia syndrome" EXACT [MONDO:Lexical, OMIM:249270] +synonym: "thiamine-responsive anaemia syndrome" EXACT OMO:0003005 [DOID:0090117] +synonym: "thiamine-responsive Anemia syndrome" RELATED [] +synonym: "thiamine-responsive anemia syndrome" EXACT [DOID:0090117, OMIM:249270] +synonym: "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness" EXACT OMO:0003005 [DOID:0090117] +synonym: "thiamine-responsive megaloblastic anemia syndrome" EXACT [DOID:0090117, MONDO:Lexical, OMIM:249270, Orphanet:49827] synonym: "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" EXACT [DOID:0090117, Orphanet:49827] synonym: "thiamine-responsive myelodysplasia" EXACT [DOID:0090117, OMIM:249270] synonym: "THMD1" EXACT ABBREVIATION [DOID:0090117] @@ -206534,8 +206565,8 @@ id: MONDO:0009576 name: megalocornea subset: otar {source="MONDO:OTAR"} synonym: "anterior megalophthalmos" EXACT [DOID:0060305] -synonym: "congenital anterior megalophthalmia" RELATED EXCLUDE [DOID:0060305] -synonym: "megalocornea" EXACT [MONDO:ambiguous] +synonym: "congenital anterior megalophthalmia" RELATED EXCLUDE [] +synonym: "megalocornea" EXACT [DOID:0060305, icd11.foundation:58849242, MONDO:ambiguous, OMIM:249300] synonym: "megalocornea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060305 {source="MONDO:equivalentTo"} xref: HP:0000485 {source="MONDO:otherHierarchy"} @@ -206569,11 +206600,11 @@ subset: rare synonym: "Megalocornea Intellectual Disability Syndrome" EXACT [NORD:1424] synonym: "megalocornea intellectual disability syndrome" RELATED [GARD:0003448] synonym: "megalocornea mental retardation syndrome" RELATED DEPRECATED [GARD:0003448] -synonym: "megalocornea-intellectual disability syndrome" EXACT [OMIM:249310] -synonym: "megalocornea-mental retardation syndrome" RELATED DEPRECATED [OMIM:249310] +synonym: "megalocornea-intellectual disability syndrome" EXACT [Orphanet:2479] +synonym: "megalocornea-mental retardation syndrome" RELATED DEPRECATED [] synonym: "MMR syndrome" EXACT [OMIM:249310, Orphanet:2479] -synonym: "Neuhauser syndrome" RELATED [OMIM:249310] -synonym: "NeuhC$user syndrome" EXACT [Orphanet:2479] +synonym: "Neuhauser syndrome" RELATED [] +synonym: "NeuhC$user syndrome" EXACT [] synonym: "Neuhäuser syndrome" EXACT [Orphanet:2479] xref: GARD:3448 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2479", source="Orphanet:2479/attributed", source="Orphanet:2479/ntbt"} @@ -206599,13 +206630,13 @@ subset: ordo_disorder {source="Orphanet:2481"} subset: orphanet_rare {source="Orphanet:2481"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "melanosis, neurocutaneous" RELATED [MONDO:Lexical, OMIM:249400] +synonym: "melanosis, neurocutaneous" RELATED [MONDO:Lexical] synonym: "NCM" EXACT ABBREVIATION [Orphanet:2481] -synonym: "NCMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249400] +synonym: "NCMS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "neurocutaneous melanosis" EXACT [Orphanet:2481] synonym: "neurocutaneous melanosis syndrome" RELATED [GARD:0007186] -synonym: "neurocutaneous melanosis, somatic" EXACT [OMIM:249400, OMIM:genemap2] -synonym: "Neuromelanosis" RELATED [OMIM:249400] +synonym: "neurocutaneous melanosis, somatic" EXACT [] +synonym: "Neuromelanosis" RELATED [] xref: GARD:7186 {source="MONDO:GARD"} xref: ICD10CM:D22.3 {source="Orphanet:2481/btnt", source="Orphanet:2481"} xref: ICD10CM:D22.4 {source="Orphanet:2481/btnt", source="Orphanet:2481"} @@ -206636,17 +206667,17 @@ subset: orphanet_rare {source="Orphanet:137834"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive Melnick-Needles syndrome (formerly)" RELATED [GARD:0005138] -synonym: "Borrone Dermatocardioskeletal syndrome" EXACT [OMIM:249420] +synonym: "Borrone Dermatocardioskeletal syndrome" EXACT [DOID:0111789, OMIM:249420] synonym: "Borrone dermatocardioskeletal syndrome" RELATED [GARD:0000939, MESH:C536577] synonym: "Borrone di Rocco Crovato syndrome" EXACT [MONDO:0022018] synonym: "Frank Ter Haar syndrome" RELATED [GARD:0005138] -synonym: "FRANK-TER Haar syndrome" RELATED [OMIM:249420] -synonym: "Frank-Ter Haar syndrome" EXACT [MONDO:Lexical, OMIM:249420] -synonym: "FTHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249420] +synonym: "FRANK-TER Haar syndrome" RELATED [] +synonym: "Frank-Ter Haar syndrome" EXACT [DOID:0111789, icd11.foundation:1643548765, MONDO:Lexical, OMIM:249420, Orphanet:137834] +synonym: "FTHS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "megalocornea, multiple skeletal anomalies, and developmental delay" RELATED [GARD:0005138] -synonym: "Melnick-Needles syndrome, autosomal recessive" RELATED [OMIM:249420] -synonym: "Melnick-Needles syndrome, autosomal recessive, formerly" RELATED [OMIM:249420] -synonym: "Ter Haar syndrome" EXACT [GARD:0005138, OMIM:249420, Orphanet:137834] +synonym: "Melnick-Needles syndrome, autosomal recessive" RELATED [] +synonym: "Melnick-Needles syndrome, autosomal recessive, formerly" RELATED [] +synonym: "Ter Haar syndrome" EXACT [DOID:0111789, GARD:0005138, icd11.foundation:1643548765, OMIM:249420, Orphanet:137834] xref: DOID:0111789 {source="MONDO:equivalentTo"} xref: GARD:5138 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:137834", source="Orphanet:137834/attributed", source="Orphanet:137834/ntbt"} @@ -206682,11 +206713,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:249500] -synonym: "intellectual disability, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:249500] -synonym: "mental retardation, autosomal recessive 1" RELATED DEPRECATED [MONDO:Lexical, OMIM:249500] -synonym: "mental retardation, autosomal recessive type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:249500] -synonym: "MRT1" RELATED DEPRECATED [MONDO:Lexical, OMIM:249500] +synonym: "intellectual disability, autosomal recessive 1" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 1" EXACT [MONDORULE:1] +synonym: "mental retardation, autosomal recessive 1" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 1" EXACT DEPRECATED [MONDORULE:1] +synonym: "MRT1" RELATED DEPRECATED [MONDO:Lexical] synonym: "PRSS12 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081177 {source="MONDO:equivalentTo"} xref: GARD:22537 {source="MONDO:GARD"} @@ -206711,8 +206742,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Belgian type intellectual disability syndrome" RELATED [GARD:0009811] synonym: "Belgian type mental retardation syndrome" RELATED DEPRECATED [GARD:0009811] -synonym: "intellectual disability syndrome, Belgian type" RELATED [OMIM:249599] -synonym: "mental retardation syndrome, Belgian type" RELATED DEPRECATED [OMIM:249599] +synonym: "intellectual disability syndrome, Belgian type" RELATED [] +synonym: "mental retardation syndrome, Belgian type" RELATED DEPRECATED [] xref: GARD:9811 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3044/attributed", source="Orphanet:3044/ntbt", source="Orphanet:3044"} xref: MEDGEN:343317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -206740,11 +206771,11 @@ subset: rare synonym: "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability" RELATED [GARD:0003524] synonym: "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation" RELATED DEPRECATED [GARD:0003524] synonym: "intellectual disability syndrome, Mietens Weber type" RELATED [GARD:0003524] -synonym: "intellectual disability syndrome, Mietens-WEBER type" RELATED [OMIM:249600] +synonym: "intellectual disability syndrome, Mietens-WEBER type" RELATED [] synonym: "intellectual disability, Mietens-Weber type" EXACT [Orphanet:2557] synonym: "mental retardation syndrome, Mietens Weber type" RELATED DEPRECATED [GARD:0003524] -synonym: "mental retardation syndrome, Mietens-WEBER type" RELATED DEPRECATED [OMIM:249600] -synonym: "Mietens-Weber syndrome" RELATED [OMIM:249600] +synonym: "mental retardation syndrome, Mietens-WEBER type" RELATED DEPRECATED [] +synonym: "Mietens-Weber syndrome" RELATED [] xref: GARD:3524 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2557", source="Orphanet:2557/attributed", source="Orphanet:2557/ntbt"} xref: icd11.foundation:1399358623 {source="MONDO:equivalentTo"} @@ -206776,9 +206807,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "blepharophimosis syndrome, Ohdo type" EXACT [Orphanet:2728] synonym: "BMRS, Ohdo type" EXACT [Orphanet:2728] -synonym: "intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth" RELATED [OMIM:249620] -synonym: "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth" RELATED DEPRECATED [OMIM:249620] -synonym: "Ohdo blepharophimosis syndrome" RELATED [OMIM:249620] +synonym: "intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth" RELATED [] +synonym: "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth" RELATED DEPRECATED [] +synonym: "Ohdo blepharophimosis syndrome" RELATED [] synonym: "Ohdo syndrome" EXACT [OMIM:249620, Orphanet:2728] synonym: "Ohdo-Madokoro-Sonoda syndrome" EXACT [Orphanet:2728] xref: GARD:3348 {source="MONDO:GARD"} @@ -206804,9 +206835,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "intellectual deficit Buenos-Aires type" RELATED [GARD:0003485] synonym: "intellectual disability Buenos Aires type" RELATED [GARD:0003485] -synonym: "intellectual disability, Buenos Aires type" RELATED [OMIM:249630] +synonym: "intellectual disability, Buenos Aires type" RELATED [] synonym: "mental retardation Buenos Aires type" RELATED DEPRECATED [GARD:0003485] -synonym: "mental retardation, Buenos Aires type" RELATED DEPRECATED [OMIM:249630] +synonym: "mental retardation, Buenos Aires type" RELATED DEPRECATED [] synonym: "Mutchinick syndrome" EXACT [GARD:0003485, OMIM:249630, Orphanet:3079] xref: GARD:3485 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3079", source="Orphanet:3079/attributed", source="Orphanet:3079/ntbt"} @@ -206833,10 +206864,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "3-mercaptopyruvate sulfurtransferase deficiency" EXACT [Orphanet:1035] synonym: "Ampola syndrome" EXACT [Orphanet:1035] -synonym: "Beta-mercaptolactate cysteine disulfiduria" RELATED [GARD:0000654, Orphanet:1035] -synonym: "disulfiduria, mixed" RELATED [OMIM:249650] -synonym: "MCDU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249650] -synonym: "mercaptolactate-cysteine disulfiduria" RELATED [MONDO:Lexical, OMIM:249650] +synonym: "Beta-mercaptolactate cysteine disulfiduria" RELATED [GARD:0000654] +synonym: "disulfiduria, mixed" RELATED [] +synonym: "MCDU" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mercaptolactate-cysteine disulfiduria" RELATED [MONDO:Lexical] xref: GARD:654 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:1035", source="Orphanet:1035/attributed", source="Orphanet:1035/ntbt"} xref: MEDGEN:208661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -206859,7 +206890,7 @@ replaced_by: MONDO:0013621 id: MONDO:0009587 name: mesoaxial hexadactyly and cardiac malformation synonym: "mesoaxial hexadactyly and cardiac malformation" EXACT [OMIM:249670] -synonym: "Mexican Cardiomelic dysplasia" RELATED [OMIM:249670] +synonym: "Mexican Cardiomelic dysplasia" RELATED [] xref: MEDGEN:167099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563087 {source="MONDO:equivalentTo"} xref: OMIM:249670 {source="MONDO:equivalentTo"} @@ -206877,14 +206908,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:2632"} subset: orphanet_rare {source="Orphanet:2632"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dyschondrosteosis, homozygous" RELATED [OMIM:249700] -synonym: "Langer mesomelic dysplasia" EXACT [MONDO:Lexical, OMIM:249700] -synonym: "langer mesomelic dysplasia, pseudoautosomal recessive" EXACT [OMIM:249700, OMIM:genemap2] +synonym: "dyschondrosteosis, homozygous" RELATED [] +synonym: "Langer mesomelic dysplasia" EXACT [MONDO:Lexical, NCIT:C126876, OMIM:249700, Orphanet:2632] +synonym: "langer mesomelic dysplasia, pseudoautosomal recessive" EXACT [] synonym: "Langer syndrome" EXACT [NCIT:C126876] synonym: "Langer type mesomelic dysplasia" EXACT [NCIT:C126876] -synonym: "LMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:249700] +synonym: "LMD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type" RELATED [GARD:0003553] -synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type" RELATED [OMIM:249700] +synonym: "mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type" RELATED [] synonym: "mesomelic dwarfism, Langer type" EXACT [Orphanet:2632] xref: GARD:3553 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2632/attributed", source="Orphanet:2632/ntbt", source="Orphanet:2632"} @@ -206918,7 +206949,7 @@ subset: rare synonym: "mesomelic dwarfism cleft palate camptodactyly" RELATED [GARD:0003552] synonym: "mesomelic dysplasia, Kozlowski-Reardon type" EXACT [Orphanet:2631] synonym: "mesomelic dysplasia, Reardon type" EXACT [Orphanet:2631] -synonym: "mesomelic limb shortening and bowing" RELATED [GARD:0003552, OMIM:249710] +synonym: "mesomelic limb shortening and bowing" RELATED [GARD:0003552] synonym: "Reardon-Hall-Slaney syndrome" EXACT [GARD:0003552, Orphanet:2631] xref: GARD:3552 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:2631/attributed", source="Orphanet:2631/ntbt", source="Orphanet:2631"} @@ -206944,10 +206975,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:10674", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency" RELATED [OMIM:249900] -synonym: "metachromatic leukodystrophy due to sap-B deficiency" EXACT [OMIM:249900, OMIM:genemap2] +synonym: "metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency" RELATED [] +synonym: "metachromatic leukodystrophy due to sap-B deficiency" EXACT [] synonym: "metachromatic leukodystrophy due to saposin b deficiency" EXACT [OMIM:249900] -synonym: "saposin B deficiency" RELATED [OMIM:249900] +synonym: "saposin B deficiency" RELATED [] xref: GARD:10674 {source="MONDO:GARD"} xref: MEDGEN:120624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562609 {source="MONDO:equivalentTo"} @@ -206976,24 +207007,24 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309263"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ARSA deficiency" RELATED [GARD:0003230, OMIM:250100] -synonym: "arylsulfatase A deficiency" RELATED [GARD:0003230, OMIM:250100] +synonym: "ARSA deficiency" RELATED [GARD:0003230] +synonym: "arylsulfatase A deficiency" RELATED [GARD:0003230] synonym: "arylsulfatase A deficiency, juvenile form" EXACT [Orphanet:309263] synonym: "cerebral sclerosis diffuse metachromatic form" RELATED [GARD:0003230] -synonym: "cerebral sclerosis, diffuse, metachromatic form" RELATED [OMIM:250100] -synonym: "cerebroside sulfatase deficiency" RELATED [GARD:0003230, OMIM:250100] +synonym: "cerebral sclerosis, diffuse, metachromatic form" RELATED [] +synonym: "cerebroside sulfatase deficiency" RELATED [GARD:0003230] synonym: "leukodystrophy metachromatic" RELATED [GARD:0003230] -synonym: "metachromatic leukodystrophy" RELATED [OMIM:250100] -synonym: "metachromatic leukodystrophy, adult" RELATED [OMIM:250100] -synonym: "metachromatic leukodystrophy, juvenile" RELATED [OMIM:250100] -synonym: "metachromatic leukodystrophy, juvenile form" EXACT CLINGEN_LABEL [] -synonym: "metachromatic leukodystrophy, late infantile" RELATED [OMIM:250100] -synonym: "metachromatic leukoencephalopathy" RELATED [GARD:0003230, OMIM:250100] -synonym: "MLD" RELATED ABBREVIATION [GARD:0003230, OMIM:250100] -synonym: "Mld" RELATED [OMIM:250100] +synonym: "metachromatic leukodystrophy" RELATED [] +synonym: "metachromatic leukodystrophy, adult" RELATED [] +synonym: "metachromatic leukodystrophy, juvenile" RELATED [] +synonym: "metachromatic leukodystrophy, juvenile form" EXACT CLINGEN_LABEL [Orphanet:309263] +synonym: "metachromatic leukodystrophy, late infantile" RELATED [] +synonym: "metachromatic leukoencephalopathy" RELATED [GARD:0003230] +synonym: "MLD" RELATED ABBREVIATION [GARD:0003230] +synonym: "Mld" RELATED [] synonym: "MLD, juvenile form" EXACT [Orphanet:309263] -synonym: "pseudoarylsulfatase A deficiency" RELATED [OMIM:250100] -synonym: "sulfatide lipidosis" RELATED [GARD:0003230, OMIM:250100] +synonym: "pseudoarylsulfatase A deficiency" RELATED [] +synonym: "sulfatide lipidosis" RELATED [GARD:0003230] xref: GARD:21329 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:309263/attributed", source="Orphanet:309263/ntbt", source="Orphanet:309263"} xref: MEDGEN:155528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -207017,11 +207048,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bellini Chiumello Rimoldi syndrome" RELATED [GARD:0003519] -synonym: "Bellini syndrome" EXACT [Orphanet:1240] -synonym: "cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly" RELATED [OMIM:250215] -synonym: "intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome" EXACT [Orphanet:1240] -synonym: "metaphyseal acroscyphodysplasia" EXACT [OMIM:250215] -synonym: "wedge-Shaped epiphyses of knees" RELATED [OMIM:250215] +synonym: "Bellini syndrome" EXACT [] +synonym: "cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly" RELATED [] +synonym: "intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome" EXACT [] +synonym: "metaphyseal acroscyphodysplasia" EXACT [icd11.foundation:1994645064, OMIM:250215] +synonym: "wedge-Shaped epiphyses of knees" RELATED [] synonym: "wedge-shaped epiphyses of knees" RELATED [GARD:0003519] synonym: "wedge-shaped epiphyses of the knees with intellectual disability and short stature" RELATED [GARD:0003519] synonym: "wedge-shaped epiphyses of the knees with mental retardation and short stature" RELATED DEPRECATED [GARD:0003519] @@ -207051,11 +207082,11 @@ subset: orphanet_rare {source="Orphanet:93317"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lethal metaphyseal dysplasia" RELATED [GARD:0004993] -synonym: "metaphyseal chondrodysplasia, congenital lethal" RELATED [OMIM:250220] -synonym: "Sedaghatian chondrodysplasia" RELATED [OMIM:250220] -synonym: "SMDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250220] +synonym: "metaphyseal chondrodysplasia, congenital lethal" RELATED [] +synonym: "Sedaghatian chondrodysplasia" RELATED [] +synonym: "SMDS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "spondylometaphyseal dysplasia Sedaghatian type" RELATED [GARD:0004993] -synonym: "spondylometaphyseal dysplasia, Sedaghatian type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:250220] +synonym: "spondylometaphyseal dysplasia, Sedaghatian type" EXACT CLINGEN_LABEL [icd11.foundation:975738106, MONDO:Lexical, OMIM:250220, Orphanet:93317] xref: DOID:0112298 {source="MONDO:equivalentTo"} xref: GARD:4993 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:93317", source="Orphanet:93317/attributed", source="Orphanet:93317/ntbt"} @@ -207085,7 +207116,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:166038"} subset: orphanet_rare {source="Orphanet:166038"} subset: rare -synonym: "metaphyseal chondrodysplasia, Kaitila type" EXACT [OMIM:250230] +synonym: "metaphyseal chondrodysplasia, Kaitila type" EXACT [OMIM:250230, Orphanet:166038] xref: GARD:17018 {source="MONDO:GARD"} xref: MEDGEN:344446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565400 {source="MONDO:equivalentTo"} @@ -207113,13 +207144,13 @@ subset: rare synonym: "autosomal recessive metaphyseal chondrodysplasia" EXACT [Orphanet:175] synonym: "cartilage hair hypoplasia" EXACT [NCIT:C61245] synonym: "cartilage hair hypoplasia like syndrome" RELATED [GARD:0006996] -synonym: "cartilage-hair hypoplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:250250] -synonym: "CHH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250250] -synonym: "McKusick Type Metaphyseal Chondrodysplasia" EXACT [NORD:1414] +synonym: "cartilage-hair hypoplasia" EXACT CLINGEN_LABEL [DOID:14773, icd11.foundation:469051294, MONDO:Lexical, OMIM:250250, Orphanet:175] +synonym: "CHH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "McKusick Type Metaphyseal Chondrodysplasia" EXACT [DOID:14773, NORD:1414] synonym: "McKusick type metaphyseal chondrodysplasia" EXACT [DOID:14773] synonym: "metaphyseal chondrodysplasia McKusick type" RELATED [GARD:0006996] -synonym: "metaphyseal chondrodysplasia, McKusick type" EXACT [DOID:14773, Orphanet:175] -synonym: "metaphyseal chondrodysplasia, Mckusick type" RELATED [OMIM:250250] +synonym: "metaphyseal chondrodysplasia, McKusick type" EXACT [DOID:14773, OMIM:250250, Orphanet:175] +synonym: "metaphyseal chondrodysplasia, Mckusick type" RELATED [] xref: DOID:14773 {source="MONDO:equivalentTo"} xref: GARD:6996 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:175", source="Orphanet:175/attributed", source="Orphanet:175/ntbt"} @@ -207166,10 +207197,10 @@ subset: ordo_disorder {source="Orphanet:2501"} subset: orphanet_rare {source="Orphanet:2501"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDST" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250400] +synonym: "MDST" RELATED ABBREVIATION [MONDO:Lexical] synonym: "metaphyseal chondrodysplasia Spahr type" RELATED [GARD:0003563] -synonym: "metaphyseal chondrodysplasia, Spahr type" EXACT [OMIM:250400] -synonym: "metaphyseal dysplasia, Spahr type" RELATED [MONDO:Lexical, OMIM:250400] +synonym: "metaphyseal chondrodysplasia, Spahr type" EXACT [icd11.foundation:1856002752, OMIM:250400, Orphanet:2501] +synonym: "metaphyseal dysplasia, Spahr type" RELATED [MONDO:Lexical] synonym: "Spahr type metaphyseal chondrodysplasia" RELATED [GARD:0003563] xref: GARD:3563 {source="MONDO:GARD"} xref: ICD10CM:Q78.5 {source="Orphanet:2501", source="Orphanet:2501/attributed", source="Orphanet:2501/ntbt"} @@ -207198,10 +207229,10 @@ subset: ordo_disorder {source="Orphanet:166035"} subset: orphanet_rare {source="Orphanet:166035"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brachydactyly-short stature-retinitis pigmentosa syndrome" RELATED [Orphanet:166035] -synonym: "metaphyseal chondrodysplasia with retinitis pigmentosa" RELATED [OMIM:250410] -synonym: "retinitis pigmentosa with or without skeletal anomalies" RELATED [OMIM:250410] -synonym: "RPSKA" RELATED ABBREVIATION [OMIM:250410] +synonym: "brachydactyly-short stature-retinitis pigmentosa syndrome" RELATED [] +synonym: "metaphyseal chondrodysplasia with retinitis pigmentosa" RELATED [] +synonym: "retinitis pigmentosa with or without skeletal anomalies" RELATED [] +synonym: "RPSKA" RELATED ABBREVIATION [] xref: GARD:17017 {source="MONDO:GARD"} xref: MEDGEN:381579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565398 {source="MONDO:equivalentTo"} @@ -207231,8 +207262,8 @@ synonym: "metaphyseal dysostosis intellectual disability conductive deafness" RE synonym: "metaphyseal dysostosis mental retardation conductive deafness" RELATED DEPRECATED [GARD:0003566] synonym: "metaphyseal dysostosis, conductive hearing loss and intellectual disability" RELATED [GARD:0003566] synonym: "metaphyseal dysostosis, conductive hearing loss and mental retardation" RELATED DEPRECATED [GARD:0003566] -synonym: "metaphyseal dysostosis, intellectual disability, and conductive deafness" RELATED [OMIM:250420] -synonym: "metaphyseal dysostosis, mental retardation, and conductive deafness" RELATED DEPRECATED [OMIM:250420] +synonym: "metaphyseal dysostosis, intellectual disability, and conductive deafness" RELATED [] +synonym: "metaphyseal dysostosis, mental retardation, and conductive deafness" RELATED DEPRECATED [] xref: GARD:3566 {source="MONDO:GARD"} xref: ICD10CM:Q78.5 {source="Orphanet:2502", source="Orphanet:2502/attributed", source="Orphanet:2502/ntbt"} xref: MEDGEN:344437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -207266,10 +207297,10 @@ subset: gard_rare {source="GARD:10622", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cartilage-hair hypoplasia variant, skeletal manifestations only" RELATED [OMIM:250460] -synonym: "cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency" RELATED [OMIM:250460] +synonym: "cartilage-hair hypoplasia variant, skeletal manifestations only" RELATED [] +synonym: "cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency" RELATED [] synonym: "CHHV" RELATED ABBREVIATION [GARD:0010622] -synonym: "MDWH" RELATED ABBREVIATION [OMIM:250460] +synonym: "MDWH" RELATED ABBREVIATION [] synonym: "metaphyseal dysplasia without hypotrichosis" EXACT [OMIM:250460] xref: GARD:10622 {source="MONDO:GARD"} xref: MEDGEN:320444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -207304,16 +207335,16 @@ subset: ordo_disorder {source="Orphanet:88639"} subset: orphanet_rare {source="Orphanet:88639"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3-hydroxyisobutryl-CoA hydrolase deficiency" EXACT [OMIM:250620, OMIM:genemap2] +synonym: "3-hydroxyisobutryl-CoA hydrolase deficiency" EXACT [DOID:0060949] synonym: "3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:250620] -synonym: "beta-hydroxyisobutyryl Coa deacylase deficiency" RELATED [OMIM:250620] +synonym: "beta-hydroxyisobutyryl Coa deacylase deficiency" RELATED [] synonym: "Beta-hydroxyisobutyryl-CoA deacylase deficiency" RELATED [GARD:0013202] -synonym: "HIBCH deficiency" EXACT [OMIM:250620, Orphanet:88639] -synonym: "HIBCHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250620] -synonym: "methacrylic acid toxicity" RELATED [OMIM:250620] -synonym: "methacrylic aciduria" EXACT [OMIM:250620, Orphanet:88639] -synonym: "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] -synonym: "valine metabolic defect" RELATED [OMIM:250620, Orphanet:88639] +synonym: "HIBCH deficiency" EXACT [DOID:0060949, OMIM:250620, Orphanet:88639] +synonym: "HIBCHD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "methacrylic acid toxicity" RELATED [] +synonym: "methacrylic aciduria" EXACT [DOID:0060949, OMIM:250620, Orphanet:88639] +synonym: "neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589, Orphanet:88639] +synonym: "valine metabolic defect" RELATED [] xref: DOID:0060949 {source="MONDO:equivalentTo"} xref: GARD:13202 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:88639", source="Orphanet:88639/attributed", source="Orphanet:88639/ntbt"} @@ -207338,8 +207369,8 @@ subset: gard_rare {source="GARD:3909", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "methemoglobin reductase deficiency" EXACT [OMIM:250700] -synonym: "NADPH-dependent methemoglobin reductase deficiency" RELATED [OMIM:250700] -synonym: "TPNH-methemoglobin reductase deficiency" RELATED [OMIM:250700] +synonym: "NADPH-dependent methemoglobin reductase deficiency" RELATED [] +synonym: "TPNH-methemoglobin reductase deficiency" RELATED [] xref: GARD:3909 {source="MONDO:GARD"} xref: MEDGEN:501116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563171 {source="MONDO:equivalentTo"} @@ -207357,15 +207388,15 @@ subset: gard_rare {source="GARD:15196", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CYB5A methemoglobinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "isolated 17,20-lyase deficiency, Pure" RELATED [OMIM:250790] -synonym: "METAG" RELATED ABBREVIATION [OMIM:250790] -synonym: "methemoglobinemia and ambiguous genitalia" RELATED [OMIM:250790] +synonym: "isolated 17,20-lyase deficiency, Pure" RELATED [] +synonym: "METAG" RELATED ABBREVIATION [] +synonym: "methemoglobinemia and ambiguous genitalia" RELATED [] synonym: "methemoglobinemia caused by mutation in CYB5A" EXACT [MONDO:design_pattern] -synonym: "methemoglobinemia due to deficiency of cytochrome B5" RELATED [OMIM:250790] -synonym: "methemoglobinemia due to deficiency of cytochrome B5, formerly" RELATED [OMIM:250790] +synonym: "methemoglobinemia due to deficiency of cytochrome B5" RELATED [] +synonym: "methemoglobinemia due to deficiency of cytochrome B5, formerly" RELATED [] synonym: "methemoglobinemia type 4" EXACT CLINGEN_LABEL [] -synonym: "methemoglobinemia type IV" RELATED [OMIM:250790] -synonym: "methemoglobinemia type IV, formerly" RELATED [OMIM:250790] +synonym: "methemoglobinemia type IV" RELATED [] +synonym: "methemoglobinemia type IV, formerly" RELATED [] xref: DOID:0112316 {source="MONDO:equivalentTo"} xref: GARD:15196 {source="MONDO:GARD"} xref: MEDGEN:925090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -207386,18 +207417,18 @@ subset: gard_rare {source="GARD:15197", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "methemoglobinemia due to deficiency of methemoglobin reductase" EXACT [OMIM:250800] -synonym: "methemoglobinemia, congenital, autosomal recessive" RELATED [OMIM:250800] -synonym: "methemoglobinemia, type 1" RELATED [OMIM:250800] -synonym: "methemoglobinemia, type 2" RELATED [OMIM:250800] -synonym: "methemoglobinemia, type I" EXACT [OMIM:250800, OMIM:genemap2] -synonym: "methemoglobinemia, type II" EXACT [OMIM:250800, OMIM:genemap2] +synonym: "methemoglobinemia, congenital, autosomal recessive" RELATED [] +synonym: "methemoglobinemia, type 1" RELATED [] +synonym: "methemoglobinemia, type 2" RELATED [] +synonym: "methemoglobinemia, type I" EXACT [] +synonym: "methemoglobinemia, type II" EXACT [] synonym: "NADH cytochrome B5 reductase deficiency" RELATED [GARD:0003909] synonym: "NADH diaphorase deficiency" RELATED [GARD:0003909] synonym: "NADH methemoglobin reductase deficiency" RELATED [GARD:0003909] -synonym: "NADH-cytochrome B5 reductase deficiency" RELATED [OMIM:250800] -synonym: "NADH-cytochrome B5 reductase deficiency, type 1" RELATED [OMIM:250800] -synonym: "NADH-cytochrome B5 reductase deficiency, type 2" RELATED [OMIM:250800] -synonym: "NADH-dependent methemoglobin reductase deficiency" RELATED [OMIM:250800] +synonym: "NADH-cytochrome B5 reductase deficiency" RELATED [] +synonym: "NADH-cytochrome B5 reductase deficiency, type 1" RELATED [] +synonym: "NADH-cytochrome B5 reductase deficiency, type 2" RELATED [] +synonym: "NADH-dependent methemoglobin reductase deficiency" RELATED [] xref: GARD:15197 {source="MONDO:GARD"} xref: MEDGEN:75661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:250800 {source="MONDO:equivalentTo"} @@ -207422,15 +207453,15 @@ subset: orphanet_rare {source="Orphanet:168598"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "brain demyelination due to methionine adenosyltransferase deficiency" EXACT [https://clinicalgenome.org/affiliation/40011/, https://orcid.org/0000-0002-5655-9589] -synonym: "hypermethioninemia, isolated persistent" RELATED [OMIM:250850] -synonym: "hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency" EXACT [OMIM:250850, OMIM:genemap2] +synonym: "hypermethioninemia, isolated persistent" RELATED [] +synonym: "hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency" EXACT [] synonym: "isolated persistent hypermethioninemia" EXACT [NCIT:C123435] -synonym: "MAT deficiency" EXACT [Orphanet:168598] -synonym: "MAT I/III deficiency" EXACT [Orphanet:168598] -synonym: "Mat I/III deficiency" RELATED [OMIM:250850] -synonym: "methionine adenosyltransferase deficiency" EXACT CLINGEN_LABEL [OMIM:250850, Orphanet:168598] -synonym: "methionine adenosyltransferase deficiency, autosomal recessive" EXACT [OMIM:250850, OMIM:genemap2] -synonym: "methionine adenosyltransferase I/III deficiency" RELATED [OMIM:250850] +synonym: "MAT deficiency" EXACT [NCIT:C123435, OMIM:250850] +synonym: "MAT I/III deficiency" EXACT [NCIT:C123435, OMIM:250850, Orphanet:168598] +synonym: "Mat I/III deficiency" RELATED [] +synonym: "methionine adenosyltransferase deficiency" EXACT CLINGEN_LABEL [NCIT:C123435] +synonym: "methionine adenosyltransferase deficiency, autosomal recessive" EXACT [] +synonym: "methionine adenosyltransferase I/III deficiency" RELATED [] xref: GARD:8397 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:168598", source="Orphanet:168598/attributed", source="Orphanet:168598/ntbt"} xref: MEDGEN:75700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -207447,9 +207478,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009608 name: methionine malabsorption syndrome -synonym: "methionine malabsorption syndrome" EXACT [OMIM:250900] -synonym: "oasthouse urine disease" RELATED [OMIM:250900] -synonym: "Smith-strang disease" RELATED [OMIM:250900] +synonym: "methionine malabsorption syndrome" EXACT [icd11.foundation:1061270147, OMIM:250900] +synonym: "oasthouse urine disease" RELATED [] +synonym: "Smith-strang disease" RELATED [] xref: icd11.foundation:1061270147 {source="MONDO:equivalentTo"} xref: MEDGEN:78693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562682 {source="MONDO:equivalentTo"} @@ -207470,16 +207501,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cblG" RELATED [GARD:0003577] synonym: "functional methionine synthase deficiency type cblG" EXACT [Orphanet:2170] -synonym: "HMAG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250940] +synonym: "HMAG" RELATED ABBREVIATION [MONDO:Lexical] synonym: "homocystinuria due to defect in methylation Cbl g" RELATED [GARD:0002733] synonym: "homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type" RELATED OMO:0003005 [] -synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type" RELATED [OMIM:250940] -synonym: "homocystinuria-megaloblastic anemia, cblG complementation type" RELATED [GARD:0003577, MONDO:Lexical, OMIM:250940] -synonym: "methionine synthase deficiency" RELATED [OMIM:250940] +synonym: "homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type" RELATED [] +synonym: "homocystinuria-megaloblastic anemia, cblG complementation type" RELATED [GARD:0003577, MONDO:Lexical] +synonym: "methionine synthase deficiency" RELATED [] synonym: "methylcobalamin deficiency Cbl G type" RELATED [GARD:0003577] -synonym: "methylcobalamin deficiency type cblG" EXACT CLINGEN_LABEL [] -synonym: "methylcobalamin deficiency, cblG type" RELATED [OMIM:250940] -synonym: "methylmalonic aciduria and homocystinuria type cblG" RELATED [DOID:0050733] +synonym: "methylcobalamin deficiency type cblG" EXACT CLINGEN_LABEL [Orphanet:2170] +synonym: "methylcobalamin deficiency, cblG type" RELATED [] +synonym: "methylmalonic aciduria and homocystinuria type cblG" RELATED [] xref: DOID:0050733 {source="EFO:0005597", source="MONDO:equivalentTo"} xref: DOID:0112256 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:3577 {source="MONDO:GARD"} @@ -207515,23 +207546,23 @@ synonym: "3 methylglutaconic aciduria type 1" RELATED [GARD:0010321] synonym: "3 methylglutaconyl CoA hydratase deficiency" RELATED [GARD:0010321] synonym: "3-methylglutaconic aciduria caused by mutation in AUH" EXACT [] synonym: "3-methylglutaconic aciduria caused by mutation in auh" EXACT [MONDO:design_pattern] -synonym: "3-methylglutaconic aciduria type 1" EXACT CLINGEN_LABEL [] +synonym: "3-methylglutaconic aciduria type 1" EXACT CLINGEN_LABEL [DOID:0110002, icd11.foundation:899935975, NCIT:C98683, Orphanet:67046] synonym: "3-methylglutaconic aciduria type I" EXACT [DOID:0110002] -synonym: "3-Methylglutaconic aciduria, type 1" RELATED [OMIM:250950] -synonym: "3-METHYLGLUTACONIC aciduria, type I" RELATED [MONDO:Lexical, OMIM:250950] -synonym: "3-methylglutaconyl-CoA hydratase deficiency" EXACT [DOID:0110002, Orphanet:67046] -synonym: "3-methylglutaconyl-Coa hydratase deficiency" RELATED [OMIM:250950] +synonym: "3-Methylglutaconic aciduria, type 1" RELATED [] +synonym: "3-METHYLGLUTACONIC aciduria, type I" RELATED [MONDO:Lexical] +synonym: "3-methylglutaconyl-CoA hydratase deficiency" EXACT [DOID:0110002, icd11.foundation:899935975, OMIM:250950, Orphanet:67046] +synonym: "3-methylglutaconyl-Coa hydratase deficiency" RELATED [] synonym: "3-methylglutaconyl-CoA hydratase deficiency (auh defect)" RELATED [GARD:0010321] -synonym: "3-Mg-Coa-hydratase deficiency" RELATED [OMIM:250950] +synonym: "3-Mg-Coa-hydratase deficiency" RELATED [] synonym: "3-MGCA type I (3-MGCA-1)" RELATED [GARD:0010321] synonym: "3MG CoA hydratase deficiency" RELATED [GARD:0010321] -synonym: "3MG-CoA hydratase deficiency" EXACT [DOID:0110002, Orphanet:67046] +synonym: "3MG-CoA hydratase deficiency" EXACT [DOID:0110002, icd11.foundation:899935975, Orphanet:67046] synonym: "AUH 3-methylglutaconic aciduria" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "auh 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern] synonym: "MGA type I" EXACT [DOID:0110002] -synonym: "Mga, type 1" RELATED [OMIM:250950] +synonym: "Mga, type 1" RELATED [] synonym: "MGA1" EXACT ABBREVIATION [DOID:0110002, Orphanet:67046] -synonym: "MGCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:250950] +synonym: "MGCA1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0110002 {source="MONDO:equivalentTo"} xref: GARD:10321 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:67046/attributed", source="Orphanet:67046/ntbt", source="DOID:0110002", source="Orphanet:67046"} @@ -207565,10 +207596,10 @@ subset: rare synonym: "3 alpha methylglutaconic aciduria type IV" RELATED [GARD:0010342] synonym: "3 methylglutaconic aciduria type IV" RELATED [GARD:0010342] synonym: "3-methylglutaconic aciduria type IV" EXACT [DOID:0110006] -synonym: "3-Methylglutaconic aciduria, type 4" RELATED [OMIM:250951] -synonym: "3-METHYLGLUTACONIC aciduria, type IV" RELATED [MONDO:Lexical, OMIM:250951] +synonym: "3-Methylglutaconic aciduria, type 4" RELATED [] +synonym: "3-METHYLGLUTACONIC aciduria, type IV" RELATED [MONDO:Lexical] synonym: "MGA type IV" EXACT [DOID:0110006] -synonym: "Mga, type 4" RELATED [OMIM:250951] +synonym: "Mga, type 4" RELATED [] synonym: "MGA4" EXACT ABBREVIATION [DOID:0110006, Orphanet:67048] synonym: "MGCA4" EXACT ABBREVIATION [DOID:0110006, MONDO:Lexical, OMIM:250951] synonym: "Not otherwise specified 3-MGA-Uria type" RELATED [GARD:0010342] @@ -207597,16 +207628,16 @@ subset: orphanet_rare {source="Orphanet:27"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MCM deficiency" RELATED [GARD:0003586] -synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT [DOID:0060740] -synonym: "methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency" RELATED [OMIM:251000] -synonym: "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" EXACT CLINGEN_LABEL [OMIM:251000] +synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT [DOID:0060740, OMIM:251000] +synonym: "methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency" RELATED [] +synonym: "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" EXACT CLINGEN_LABEL [DOID:0060740, NCIT:C148366, OMIM:251000] synonym: "methylmalonic aciduria mut type" EXACT [DOID:0060740] -synonym: "methylmalonic aciduria, mut type" RELATED [OMIM:251000] -synonym: "methylmalonic aciduria, mut(-) type" RELATED [OMIM:251000] -synonym: "methylmalonic aciduria, mut(0) type" RELATED [OMIM:251000] +synonym: "methylmalonic aciduria, mut type" RELATED [] +synonym: "methylmalonic aciduria, mut(-) type" RELATED [] +synonym: "methylmalonic aciduria, mut(0) type" RELATED [] synonym: "methylmalonyl-CoA mutase deficiency" EXACT [Orphanet:27] synonym: "methylmalonyl-Coenzyme A mutase deficiency" EXACT [Orphanet:27] -synonym: "vitamin B12-unresponsive methylmalonic acidemia" RELATED [Orphanet:27] +synonym: "vitamin B12-unresponsive methylmalonic acidemia" RELATED [] synonym: "vitamin B12-unresponsive methylmalonic aciduria" EXACT [DOID:0060740, Orphanet:27] xref: DOID:0060740 {source="MONDO:equivalentTo"} xref: GARD:3586 {source="MONDO:GARD"} @@ -207646,12 +207677,12 @@ synonym: "cobalamin locus B variant" RELATED [] synonym: "methylmalonic acidemia cblA type" EXACT [DOID:0060742, GARD:0005500] synonym: "methylmalonic acidemia, cblA type" EXACT [OMIM:251100] synonym: "methylmalonic aciduria cblA type" EXACT [DOID:0060742, GARD:0005500] -synonym: "methylmalonic aciduria, cblA type" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40011/, https://orcid.org/0000-0002-5655-9589, OMIM:251100, PMID:17597648, PMID:33340416] +synonym: "methylmalonic aciduria, cblA type" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40011/, https://orcid.org/0000-0002-5655-9589, NCIT:C142171, OMIM:251100, PMID:17597648, PMID:33340416] synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type" EXACT [DOID:0060742] -synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" EXACT [DOID:0060742] -synonym: "Methylmalonic aciduria, vitamin B12-responsive, cblA type" EXACT [OMIM:251100, OMIM:genemap2] +synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" EXACT [] +synonym: "Methylmalonic aciduria, vitamin B12-responsive, cblA type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type" RELATED [GARD:0005500] -synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" RELATED [OMIM:251100] +synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" RELATED [] synonym: "MMA Cbl A type" RELATED [GARD:0005500] synonym: "vitamin B12-responsive methylmalonic acidemia type cblA" EXACT [Orphanet:79310] synonym: "vitamin B12-responsive methylmalonic aciduria type cblA" EXACT [Orphanet:79310] @@ -207689,10 +207720,10 @@ subset: rare synonym: "methylmalonic acidemia cblB type" EXACT [DOID:0060743, GARD:0009479] synonym: "methylmalonic acidemia, cblB type" EXACT [OMIM:251110] synonym: "methylmalonic aciduria cblB type" EXACT [DOID:0060743] -synonym: "methylmalonic aciduria, cblB type" EXACT CLINGEN_LABEL [https://orcid.org/0000-0002-5655-9589, OMIM:251110, PMID:17597648, PMID:33340416] -synonym: "methylmalonic aciduria, vitamin B12-responsive, cblB type" EXACT [OMIM:251110, OMIM:genemap2] +synonym: "methylmalonic aciduria, cblB type" EXACT CLINGEN_LABEL [https://orcid.org/0000-0002-5655-9589, NCIT:C142172, OMIM:251110, PMID:17597648, PMID:33340416] +synonym: "methylmalonic aciduria, vitamin B12-responsive, cblB type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type" EXACT [DOID:0060743] -synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" RELATED [OMIM:251110] +synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" RELATED [] synonym: "vitamin B12-responsive methylmalonic acidemia type cblB" EXACT [Orphanet:79311] synonym: "vitamin B12-responsive methylmalonic aciduria, type cblB" EXACT [Orphanet:79311] xref: DOID:0060743 {source="MONDO:equivalentTo"} @@ -207725,15 +207756,15 @@ subset: orphanet_rare {source="Orphanet:308425"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MCEE deficiency" EXACT [Orphanet:308425] -synonym: "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" EXACT CLINGEN_LABEL [] +synonym: "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" EXACT CLINGEN_LABEL [Orphanet:308425] synonym: "methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency" EXACT [Orphanet:308425] synonym: "methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency" EXACT [Orphanet:308425] synonym: "methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency" EXACT [Orphanet:308425] -synonym: "methylmalonic aciduria III" RELATED [OMIM:251120] -synonym: "methylmalonic aciduria III, formerly" RELATED [OMIM:251120] -synonym: "methylmalonyl-CoA epimerase deficiency" RELATED [OMIM:251120] -synonym: "methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency" RELATED [OMIM:251120] -synonym: "methylmalonyl-Coa racemase deficiency" RELATED [OMIM:251120] +synonym: "methylmalonic aciduria III" RELATED [] +synonym: "methylmalonic aciduria III, formerly" RELATED [] +synonym: "methylmalonyl-CoA epimerase deficiency" RELATED [] +synonym: "methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency" RELATED [] +synonym: "methylmalonyl-Coa racemase deficiency" RELATED [] xref: GARD:17390 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:308425/attributed", source="Orphanet:308425/ntbt", source="Orphanet:308425"} xref: MEDGEN:344419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -207760,7 +207791,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "microcephalic primordial dwarfism and cataracts" RELATED [GARD:0003602] synonym: "microcephalic primordial dwarfism Toriello type" RELATED [GARD:0003602] -synonym: "microcephalic primordial dwarfism, Toriello type" EXACT [OMIM:251190] +synonym: "microcephalic primordial dwarfism, Toriello type" EXACT [icd11.foundation:279033035, OMIM:251190, Orphanet:2643] xref: GARD:3602 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2643/attributed", source="Orphanet:2643/ntbt", source="Orphanet:2643"} xref: icd11.foundation:279033035 {source="MONDO:equivalentTo"} @@ -207787,13 +207818,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive primary microcephaly caused by mutation in MCPH1" EXACT [MONDO:design_pattern] -synonym: "MCPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251200] +synonym: "MCPH1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MCPH1 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "microcephaly 1, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:251200] -synonym: "PCC syndrome" RELATED [OMIM:251200] -synonym: "premature chromosome condensation syndrome" RELATED [OMIM:251200] -synonym: "premature chromosome condensation with microcephaly and intellectual disability" RELATED [OMIM:251200] -synonym: "premature chromosome condensation with microcephaly and mental retardation" RELATED DEPRECATED [OMIM:251200] +synonym: "PCC syndrome" RELATED [] +synonym: "premature chromosome condensation syndrome" RELATED [] +synonym: "premature chromosome condensation with microcephaly and intellectual disability" RELATED [] +synonym: "premature chromosome condensation with microcephaly and mental retardation" RELATED DEPRECATED [] xref: DOID:0070285 {source="MONDO:equivalentTo"} xref: GARD:15198 {source="MONDO:GARD"} xref: MEDGEN:344415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -207822,7 +207853,7 @@ subset: orphanet_rare {source="Orphanet:2515"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "microcephaly with cardiomyopathy" RELATED [GARD:0003609] -synonym: "microcephaly-cardiomyopathy" RELATED [OMIM:251220] +synonym: "microcephaly-cardiomyopathy" RELATED [] synonym: "severe microcephaly and self-limiting dilated cardiomyopathy" RELATED [GARD:0003609] synonym: "severe microcephaly with intellectual disability and dilated cardiomyopathy" RELATED [GARD:0003609] synonym: "severe microcephaly with mental retardation and dilated cardiomyopathy" RELATED DEPRECATED [GARD:0003609] @@ -207850,8 +207881,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:572768"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "microcephaly-micromelia syndrome" EXACT [OMIM:251230] -synonym: "MIMIS" RELATED ABBREVIATION [OMIM:251230] +synonym: "microcephaly-micromelia syndrome" EXACT [DOID:0081432, OMIM:251230, Orphanet:572768] +synonym: "MIMIS" RELATED ABBREVIATION [] xref: DOID:0081432 {source="MONDO:equivalentTo"} xref: GARD:18011 {source="MONDO:GARD"} xref: MEDGEN:381553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -207874,7 +207905,7 @@ subset: orphanet_rare {source="Orphanet:3132"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "microcephaly hypogammaglobulinemia abnormal immunity" RELATED [GARD:0000239] -synonym: "microcephaly with chemotactic defect and transient hypogammaglobulinemia" RELATED [OMIM:251240] +synonym: "microcephaly with chemotactic defect and transient hypogammaglobulinemia" RELATED [] synonym: "microcephaly-hypogammaglobulinemia-abnormal immunity syndrome" EXACT [Orphanet:3132] synonym: "Say Barber Miller syndrome" RELATED [GARD:0000239] xref: GARD:239 {source="MONDO:GARD"} @@ -207906,7 +207937,7 @@ subset: orphanet_rare {source="Orphanet:2522"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "microcephaly cervical spine fusion anomalies" RELATED [GARD:0003610] -synonym: "microcephaly with cervical spine fusion anomalies" RELATED [OMIM:251250] +synonym: "microcephaly with cervical spine fusion anomalies" RELATED [] synonym: "microcephaly, mild intellectual disability, short stature, and skeletal anomalies" RELATED [GARD:0003610] synonym: "microcephaly, mild mental retardation, short stature, and skeletal anomalies" RELATED DEPRECATED [GARD:0003610] xref: GARD:3610 {source="MONDO:GARD"} @@ -207932,12 +207963,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:313795"} subset: orphanet_rare {source="Orphanet:313795"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "JAWAD syndrome" RELATED [OMIM:251255] -synonym: "Jawad syndrome" EXACT [MONDO:Lexical, OMIM:251255] -synonym: "JWDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251255] -synonym: "Kelly syndrome" RELATED [OMIM:251255] -synonym: "microcephaly with intellectual disability and digital anomalies" RELATED [OMIM:251255] -synonym: "microcephaly with mental retardation and digital anomalies" RELATED DEPRECATED [OMIM:251255] +synonym: "JAWAD syndrome" RELATED [] +synonym: "Jawad syndrome" EXACT [MONDO:Lexical, OMIM:251255, Orphanet:313795] +synonym: "JWDS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Kelly syndrome" RELATED [] +synonym: "microcephaly with intellectual disability and digital anomalies" RELATED [] +synonym: "microcephaly with mental retardation and digital anomalies" RELATED DEPRECATED [] xref: GARD:17410 {source="MONDO:GARD"} xref: MEDGEN:810673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:251255 {source="Orphanet:313795", source="MONDO:equivalentTo", source="Orphanet:313795/e"} @@ -207959,24 +207990,25 @@ subset: orphanet_rare {source="Orphanet:647"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AT V1" EXACT [Orphanet:647] -synonym: "ataxia-telangiectasia variant V1" RELATED [OMIM:251260] -synonym: "ataxia-telangiectasia variant V2" RELATED [OMIM:251260] -synonym: "ataxia-telangiectasia, variant 1" EXACT [Orphanet:647] -synonym: "Berlin breakage syndrome" EXACT [DOID:7400, OMIM:251260, Orphanet:647] -synonym: "immunodeficiency, microcephaly, and chromosomal instability" RELATED [OMIM:251260] -synonym: "immunodeficiency-microcephaly-chromosomal instability syndrome" EXACT [Orphanet:647] +synonym: "ataxia-telangiectasia variant V1" RELATED [] +synonym: "ataxia-telangiectasia variant V2" RELATED [] +synonym: "ataxia-telangiectasia, variant 1" EXACT [icd11.foundation:1925662580, Orphanet:647] +synonym: "Berlin breakage syndrome" EXACT [DOID:7400, icd11.foundation:1925662580, Orphanet:647] +synonym: "immunodeficiency, microcephaly, and chromosomal instability" RELATED [] +synonym: "immunodeficiency-microcephaly-chromosomal instability syndrome" EXACT [DOID:7400, Orphanet:647] synonym: "microcephaly immunodeficiency lymphoreticuloma" RELATED [GARD:0003904] synonym: "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies" RELATED [GARD:0003904] -synonym: "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies" RELATED [OMIM:251260] +synonym: "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies" RELATED [] synonym: "microcephaly, normal intelligence and immunodeficiency" EXACT [DOID:7400] -synonym: "microcephaly-immunodeficiency-lymphoreticuloma syndrome" EXACT [Orphanet:647] -synonym: "NBs" EXACT [Orphanet:647] -synonym: "Nijmegen breakage syndrome" EXACT CLINGEN_LABEL [OMIM:251260] +synonym: "microcephaly-immunodeficiency-lymphoreticuloma syndrome" EXACT [DOID:7400] +synonym: "NBS" EXACT ABBREVIATION [DOID:7400, OMIM:251260, Orphanet:647] +synonym: "NBs" EXACT [] +synonym: "Nijmegen breakage syndrome" EXACT CLINGEN_LABEL [DOID:7400, icd11.foundation:1925662580, NCIT:C4692, OMIM:251260, Orphanet:647] synonym: "Nonsyndromal microcephaly autosomal recessive with normal intelligence" RELATED [GARD:0003904] -synonym: "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence" RELATED [OMIM:251260] -synonym: "Seemanova syndrome" EXACT [DOID:7400] -synonym: "Seemanova syndrome 2" RELATED [OMIM:251260] -synonym: "Seemanova syndrome type 2" EXACT [Orphanet:647] +synonym: "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence" RELATED [] +synonym: "Seemanova syndrome" EXACT [] +synonym: "Seemanova syndrome 2" RELATED [] +synonym: "Seemanova syndrome type 2" EXACT [DOID:7400, icd11.foundation:1925662580, Orphanet:647] xref: DOID:7400 {source="MONDO:equivalentTo"} xref: GARD:3904 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:647/attributed", source="Orphanet:647/ntbt", source="Orphanet:647"} @@ -208013,15 +208045,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:2518"} subset: orphanet_rare {source="Orphanet:2518"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive chorioretinopathy-microcephaly syndrome" RELATED [Orphanet:2518] +synonym: "autosomal recessive chorioretinopathy-microcephaly syndrome" RELATED [] synonym: "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome" EXACT [Orphanet:2518] -synonym: "MCCRP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251270] -synonym: "microcephaly and chorioretinopathy 1" EXACT CLINGEN_LABEL [] +synonym: "MCCRP1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microcephaly and chorioretinopathy 1" EXACT CLINGEN_LABEL [DOID:0080105] synonym: "microcephaly and chorioretinopathy caused by mutation in TUBGCP6" EXACT [MONDO:design_pattern] -synonym: "microcephaly and chorioretinopathy type 1" EXACT [DOID:0080105, MONDORULE:1] -synonym: "microcephaly and chorioretinopathy, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:251270] -synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:251270] -synonym: "Pseudotoxoplasmosis syndrome" EXACT [Orphanet:2518] +synonym: "microcephaly and chorioretinopathy type 1" EXACT [MONDORULE:1] +synonym: "microcephaly and chorioretinopathy, autosomal recessive, 1" RELATED [MONDO:Lexical] +synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 1" EXACT [MONDORULE:1, NCIT:C129306] +synonym: "Pseudotoxoplasmosis syndrome" EXACT [] synonym: "TUBGCP6 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080105 {source="MONDO:equivalentTo"} xref: GARD:16603 {source="MONDO:GARD"} @@ -208048,9 +208080,9 @@ name: diencephalic-mesencephalic junction dysplasia syndrome 1 subset: gard_rare {source="GARD:8510", source="MONDO:GARD"} subset: rare synonym: "DMJDS1" EXACT ABBREVIATION [OMIM:251280] -synonym: "microcephaly with spastic quadriplegia" EXACT [OMIM:251280] -synonym: "microcephaly, seizures, spasticity, and brain calcifications" RELATED [OMIM:251280] -synonym: "MISSBC" RELATED ABBREVIATION [OMIM:251280] +synonym: "microcephaly with spastic quadriplegia" EXACT [] +synonym: "microcephaly, seizures, spasticity, and brain calcifications" RELATED [] +synonym: "MISSBC" RELATED ABBREVIATION [] synonym: "recessive microcephaly with spastic quadriplegia" RELATED [GARD:0008510] xref: GARD:8510 {source="MONDO:GARD"} xref: MEDGEN:1615973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -208073,18 +208105,18 @@ subset: orphanet_rare {source="Orphanet:1229"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT [DOID:0050656, MONDO:Lexical, OMIM:251290] +synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT [DOID:0050656, MONDO:Lexical] synonym: "Baraitser Brett Piesowicz syndrome" RELATED [GARD:0000815] -synonym: "Baraitser-Brett-Piesowicz syndrome" EXACT [Orphanet:1229] -synonym: "Baraitser-Reardon syndrome" EXACT [Orphanet:1229] -synonym: "bilateral band-like calcification with polymicrogyria" EXACT [Orphanet:1229] -synonym: "BLC-PMG" EXACT [Orphanet:1229] -synonym: "BLCPMG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251290] -synonym: "congenital intrauterine infection-like syndrome" RELATED [Orphanet:1229] +synonym: "Baraitser-Brett-Piesowicz syndrome" EXACT [DOID:0050656, Orphanet:1229] +synonym: "Baraitser-Reardon syndrome" EXACT [DOID:0050656, Orphanet:1229] +synonym: "bilateral band-like calcification with polymicrogyria" EXACT [DOID:0050656, Orphanet:1229] +synonym: "BLC-PMG" EXACT ABBREVIATION [DOID:0050656, Orphanet:1229] +synonym: "BLCPMG" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "congenital intrauterine infection-like syndrome" RELATED [] synonym: "microcephaly - intracranial calcification - intellectual disability" RELATED [GARD:0012426] synonym: "microcephaly intracranial calcification" RELATED [GARD:0000815] -synonym: "microcephaly-intracranial calcification-intellectual disability syndrome" EXACT [Orphanet:1229] -synonym: "pseudo-TORCH syndrome" EXACT [OMIM:251290, Orphanet:1229] +synonym: "microcephaly-intracranial calcification-intellectual disability syndrome" EXACT [DOID:0050656, Orphanet:1229] +synonym: "pseudo-TORCH syndrome" EXACT [OMIMPS:251290, Orphanet:1229] xref: DOID:0050656 {source="MONDO:equivalentTo"} xref: GARD:12426 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1229/attributed", source="Orphanet:1229/ntbt", source="Orphanet:1229"} @@ -208110,22 +208142,22 @@ subset: orphanet_rare {source="Orphanet:2065"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities" RELATED [OMIM:251300] -synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" RELATED DEPRECATED [OMIM:251300] +synonym: "cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities" RELATED [] +synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" RELATED DEPRECATED [] synonym: "Galloway Mowat syndrome" RELATED [GARD:0000065] -synonym: "Galloway syndrome" EXACT [DOID:0060364, Orphanet:2065] -synonym: "Galloway-Mowat syndrome" EXACT [MONDO:Lexical, OMIM:251300] -synonym: "GAMOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251300] +synonym: "Galloway syndrome" EXACT [Orphanet:2065] +synonym: "Galloway-Mowat syndrome" EXACT [DOID:0080694, MONDO:Lexical, NCIT:C132195, OMIMPS:251300, Orphanet:2065] +synonym: "GAMOS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hiatal hernia-microcephaly-nephrosis, Galloway type" RELATED [GARD:0000065] synonym: "microcephaly nephrosis syndrome" RELATED [GARD:0000065] -synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [DOID:0060364] -synonym: "microcephaly, hiatal hernia, and nephrotic syndrome" RELATED [GARD:0000065, OMIM:251300] +synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [] +synonym: "microcephaly, hiatal hernia, and nephrotic syndrome" RELATED [GARD:0000065] synonym: "microcephaly-hiatus hernia-nephrotic syndrome" EXACT [Orphanet:2065] synonym: "nephrosis neuronal dysmigration syndrome" RELATED [GARD:0000065] -synonym: "nephrosis-microcephaly syndrome" EXACT [DOID:0060364] -synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [DOID:0060364, Orphanet:2065] -synonym: "spinocerebellar ataxia, autosomal recessive 5" EXACT [OMIM:251300] -synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [OMIM:251300] +synonym: "nephrosis-microcephaly syndrome" EXACT [] +synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [Orphanet:2065] +synonym: "spinocerebellar ataxia, autosomal recessive 5" EXACT [] +synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [] xref: DOID:0080694 {source="MONDO:equivalentTo"} xref: GARD:65 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:2065/attributed", source="Orphanet:2065/ntbt", source="Orphanet:2065"} @@ -208150,7 +208182,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009628 name: obsolete microcolon def: "A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development." [NCIT:C98987] -synonym: "microcolon" EXACT [MONDO:ambiguous, OMIM:251400] +synonym: "microcolon" EXACT [MONDO:ambiguous] synonym: "microcolon (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0004388 {source="MONDO:otherHierarchy"} xref: ICD9:751.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -208172,13 +208204,13 @@ subset: gard_rare {source="GARD:16451", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CANT1 Desbuquois dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DBQD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251450] +synonym: "DBQD1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Desbuquois dysplasia 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:251450] synonym: "Desbuquois dysplasia caused by mutation in CANT1" EXACT [MONDO:design_pattern] -synonym: "Desbuquois dysplasia type 1" EXACT [MONDORULE:1, OMIM:251450] -synonym: "Desbuquois dysplasia, Kim variant" RELATED [OMIM:251450] -synonym: "desbuquois syndrome" RELATED [OMIM:251450] -synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" RELATED [OMIM:251450] +synonym: "Desbuquois dysplasia type 1" EXACT [MONDORULE:1] +synonym: "Desbuquois dysplasia, Kim variant" RELATED [] +synonym: "desbuquois syndrome" RELATED [] +synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" RELATED [] xref: GARD:16451 {source="MONDO:GARD"} xref: MEDGEN:860583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:251450 {source="MONDO:equivalentTo"} @@ -208196,10 +208228,10 @@ name: microphthalmia, isolated, with coloboma 4 subset: gard_rare {source="GARD:15200", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCOPCB4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251505] -synonym: "microphthalmia with colobomatous cyst" RELATED [OMIM:251505] -synonym: "microphthalmia, isolated, with coloboma 4" EXACT [MONDO:Lexical, OMIM:251505] -synonym: "microphthalmia, isolated, with coloboma type 4" EXACT [MONDORULE:1, OMIM:251505] +synonym: "MCOPCB4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microphthalmia with colobomatous cyst" RELATED [] +synonym: "microphthalmia, isolated, with coloboma 4" EXACT [MONDO:Lexical] +synonym: "microphthalmia, isolated, with coloboma type 4" EXACT [MONDORULE:1] xref: GARD:15200 {source="MONDO:GARD"} xref: MEDGEN:344410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565378 {source="MONDO:equivalentTo"} @@ -208213,12 +208245,12 @@ is_a: MONDO:0000170 {source="MONDO:0009630/inferred", source="MONDO:Redundant", id: MONDO:0009631 name: isolated microphthalmia 1 def: "A microphthalmia that has material basis in variation in the chromosomal region 14q32." [DOID:0060840, PMID:9545413] -synonym: "anophthalmia, clinical, isolated" RELATED [OMIM:251600] -synonym: "isolated microphthalmia type 1" EXACT [DOID:0060840, MONDORULE:1] -synonym: "Mcop" RELATED [OMIM:251600] +synonym: "anophthalmia, clinical, isolated" RELATED [] +synonym: "isolated microphthalmia type 1" EXACT [MONDORULE:1] +synonym: "Mcop" RELATED [] synonym: "MCOP1" EXACT ABBREVIATION [DOID:0060840, MONDO:Lexical, OMIM:251600] -synonym: "microphthalmia, isolated 1" RELATED [MONDO:Lexical, OMIM:251600] -synonym: "microphthalmos, autosomal recessive" RELATED [OMIM:251600] +synonym: "microphthalmia, isolated 1" RELATED [MONDO:Lexical] +synonym: "microphthalmos, autosomal recessive" RELATED [] xref: DOID:0060840 {source="MONDO:equivalentTo"} xref: ICD10CM:Q11.0 {source="DOID:0060840"} xref: MEDGEN:381546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -208243,7 +208275,7 @@ id: MONDO:0009633 name: microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma subset: otar {source="MONDO:OTAR"} synonym: "microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma" EXACT [MONDO:Lexical, OMIM:251750] -synonym: "MSPKA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251750] +synonym: "MSPKA" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:761238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:251750 {source="MONDO:equivalentTo"} xref: Orphanet:238763 {source="OMIM:251750"} @@ -208280,8 +208312,8 @@ subset: orphanet_rare {source="Orphanet:2290"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital familial protracted diarrhea" RELATED [GARD:0007039] -synonym: "congenital familial protracted diarrhea with enterocyte Brush-border abnormalities" RELATED [OMIM:251850] -synonym: "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" EXACT [DOID:0060775] +synonym: "congenital familial protracted diarrhea with enterocyte Brush-border abnormalities" RELATED [] +synonym: "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" EXACT [DOID:0060775, OMIM:251850] synonym: "congenital familial protracted diarrhoea" RELATED OMO:0003005 [] synonym: "congenital familial protracted diarrhoea with enterocyte Brush-border abnormalities" RELATED OMO:0003005 [] synonym: "congenital familial protracted diarrhoea with enterocyte brush-border abnormalities" EXACT OMO:0003005 [] @@ -208289,17 +208321,17 @@ synonym: "congenital microvillous atrophy" EXACT [Orphanet:2290] synonym: "congenital microvillus atrophy" EXACT [DOID:0060775, Orphanet:2290] synonym: "Davidson disease" EXACT [DOID:0060775, OMIM:251850] synonym: "Davidson's disease" RELATED [GARD:0007039] -synonym: "DIAR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251850] +synonym: "DIAR2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "diarrhea 2 with microvillus atrophy" EXACT [DOID:0060775] -synonym: "diarrhea 2, with microvillus atrophy" RELATED [MONDO:Lexical, OMIM:251850] +synonym: "diarrhea 2, with microvillus atrophy" RELATED [MONDO:Lexical] synonym: "diarrhoea 2 with microvillus atrophy" EXACT OMO:0003005 [] synonym: "diarrhoea 2, with microvillus atrophy" RELATED OMO:0003005 [] synonym: "familial enteropathy, microvillus" RELATED [GARD:0007039] -synonym: "intractable diarrhea of infancy" RELATED [DOID:0060775, OMIM:251850] +synonym: "intractable diarrhea of infancy" RELATED [] synonym: "intractable diarrhoea of infancy" RELATED OMO:0003005 [] synonym: "microvillous inclusion disease" EXACT [Orphanet:2290] -synonym: "microvillus atrophy, congenital" RELATED [OMIM:251850] -synonym: "microvillus inclusion disease" EXACT CLINGEN_LABEL [OMIM:251850] +synonym: "microvillus atrophy, congenital" RELATED [] +synonym: "microvillus inclusion disease" EXACT CLINGEN_LABEL [DOID:0060775, Orphanet:2290] synonym: "MVD" EXACT ABBREVIATION [DOID:0060775] synonym: "MVID" EXACT ABBREVIATION [Orphanet:2290] synonym: "MYO5B secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -208335,12 +208367,12 @@ subset: orphanet_rare {source="Orphanet:279934"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DGUOK mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mitochondrial DNA depletion syndrome 3" EXACT CLINGEN_LABEL [] +synonym: "mitochondrial DNA depletion syndrome 3" EXACT CLINGEN_LABEL [DOID:0080121, OMIM:251880] synonym: "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" EXACT [MONDO:Lexical, OMIM:251880] synonym: "mitochondrial DNA depletion syndrome caused by mutation in DGUOK" EXACT [MONDO:design_pattern] -synonym: "mitochondrial DNA depletion syndrome type 3" EXACT [DOID:0080121, MONDORULE:1] -synonym: "mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" RELATED [Orphanet:279934] -synonym: "MTDPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251880] +synonym: "mitochondrial DNA depletion syndrome type 3" EXACT [MONDORULE:1] +synonym: "mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" RELATED [] +synonym: "MTDPS3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080121 {source="MONDO:equivalentTo"} xref: GARD:13644 {source="MONDO:GARD"} xref: MEDGEN:1682503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -208364,7 +208396,7 @@ subset: ordo_group_of_disorders {source="Orphanet:206966"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mitochondrial cytopathy" EXACT [DOID:699] -synonym: "mitochondrial myopathy" EXACT [NCIT:C101328, OMIM:251900] +synonym: "mitochondrial myopathy" EXACT [DOID:699, NCIT:C101328, Orphanet:206966] xref: DOID:699 {source="MONDO:equivalentTo"} xref: GARD:20371 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:206966", source="Orphanet:206966/attributed", source="Orphanet:206966/ntbt"} @@ -208389,7 +208421,7 @@ id: MONDO:0009638 name: mitochondrial myopathy with a defect in mitochondrial-protein transport subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mitochondrial myopathy with a defect in mitochondrial-protein transport" EXACT [OMIM:251945] +synonym: "mitochondrial myopathy with a defect in mitochondrial-protein transport" EXACT [] xref: MEDGEN:381541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565376 {source="MONDO:equivalentTo"} xref: OMIM:251945 {source="MONDO:equivalentTo"} @@ -208431,18 +208463,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:2751"} subset: orphanet_rare {source="Orphanet:2751"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MOHR syndrome" EXACT [OMIM:252100] -synonym: "Mohr syndrome" EXACT [Orphanet:2751] +synonym: "MOHR syndrome" EXACT [DOID:0060959, OMIM:252100, Orphanet:2751] +synonym: "Mohr syndrome" EXACT [DOID:0060959, OMIM:252100, Orphanet:2751] synonym: "OFD syndrome 2" RELATED [GARD:0003701] -synonym: "OFD2" EXACT ABBREVIATION [Orphanet:2751] -synonym: "Ofds 2" RELATED [OMIM:252100] +synonym: "OFD2" EXACT ABBREVIATION [OMIM:252100, Orphanet:2751] +synonym: "Ofds 2" RELATED [] synonym: "oral facial digital syndrome 2" RELATED [GARD:0003701] synonym: "oral facial digital syndrome type 2" RELATED [GARD:0003701] -synonym: "oral-facial-digital syndrome type 2" EXACT [Orphanet:2751] -synonym: "oral-Facial-digital syndrome, type 2" RELATED [OMIM:252100] -synonym: "orofaciodigital syndrome 2" RELATED [OMIM:252100] +synonym: "oral-facial-digital syndrome type 2" EXACT [DOID:0060959, Orphanet:2751] +synonym: "oral-Facial-digital syndrome, type 2" RELATED [] +synonym: "orofaciodigital syndrome 2" RELATED [] synonym: "orofaciodigital syndrome II" RELATED [GARD:0003701] -synonym: "orofaciodigital syndrome type 2" RELATED [Orphanet:2751] +synonym: "orofaciodigital syndrome type 2" RELATED [] xref: DOID:0060959 {source="MONDO:equivalentTo"} xref: GARD:3701 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:2751", source="Orphanet:2751/attributed", source="Orphanet:2751/ntbt"} @@ -208472,12 +208504,12 @@ subset: rare synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" EXACT [DOID:0111164, Orphanet:308386] synonym: "MOCOD type A" EXACT [DOID:0111164, Orphanet:308386] synonym: "MOCODA" EXACT ABBREVIATION [DOID:0111164, MONDO:Lexical, OMIM:252150] -synonym: "molybdenum cofactor deficiency A" EXACT [OMIM:252150, OMIM:genemap2] +synonym: "molybdenum cofactor deficiency A" EXACT [] synonym: "molybdenum cofactor deficiency complementation group A" EXACT [DOID:0111164] -synonym: "molybdenum cofactor deficiency type A" RELATED [DOID:0111164] -synonym: "molybdenum cofactor deficiency, complementation group A" RELATED [MONDO:Lexical, OMIM:252150] -synonym: "molybdenum cofactor deficiency, complementation group type a" EXACT [MONDORULE:1, OMIM:252150] -synonym: "sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of" RELATED [OMIM:252150] +synonym: "molybdenum cofactor deficiency type A" RELATED [] +synonym: "molybdenum cofactor deficiency, complementation group A" RELATED [MONDO:Lexical] +synonym: "molybdenum cofactor deficiency, complementation group type a" EXACT [MONDORULE:1] +synonym: "sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of" RELATED [] xref: DOID:0111164 {source="MONDO:equivalentTo"} xref: GARD:17386 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:308386", source="Orphanet:308386/attributed", source="Orphanet:308386/ntbt"} @@ -208507,12 +208539,12 @@ subset: rare synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" EXACT [DOID:0111163, Orphanet:308393] synonym: "MOCOD type B" EXACT [DOID:0111163, Orphanet:308393] synonym: "MOCODB" EXACT ABBREVIATION [DOID:0111163, MONDO:Lexical, OMIM:252160] -synonym: "molybdenum cofactor deficiency B" EXACT [OMIM:252160, OMIM:genemap2] +synonym: "molybdenum cofactor deficiency B" EXACT [] synonym: "molybdenum cofactor deficiency complementation group B" EXACT [DOID:0111163] -synonym: "molybdenum cofactor deficiency type B" RELATED [DOID:0111163] -synonym: "molybdenum cofactor deficiency, complementation group B" RELATED [MONDO:Lexical, OMIM:252160] -synonym: "molybdenum cofactor deficiency, complementation group type B" EXACT [MONDORULE:1, OMIM:252160] -synonym: "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" EXACT CLINGEN_LABEL [] +synonym: "molybdenum cofactor deficiency type B" RELATED [] +synonym: "molybdenum cofactor deficiency, complementation group B" RELATED [MONDO:Lexical] +synonym: "molybdenum cofactor deficiency, complementation group type B" EXACT [MONDORULE:1] +synonym: "sulfite oxidase deficiency due to molybdenum cofactor deficiency type B" EXACT CLINGEN_LABEL [Orphanet:308393] xref: DOID:0111163 {source="MONDO:equivalentTo"} xref: GARD:17387 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:308393/attributed", source="Orphanet:308393/ntbt", source="Orphanet:308393"} @@ -208549,10 +208581,10 @@ subset: gard_rare {source="GARD:18505", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "chromosome 7Q deletion" EXACT [OMIM:252270] -synonym: "M7MLS1" EXACT ABBREVIATION [OMIM:252270] -synonym: "monosomy 7 of bone marrow" EXACT [OMIM:252270] +synonym: "M7MLS1" EXACT ABBREVIATION [NCIT:C176908, OMIM:252270] +synonym: "monosomy 7 of bone marrow" EXACT [NCIT:C176908, OMIM:252270] synonym: "myelodysplasia and leukaemia syndrome with monosomy 7" EXACT OMO:0003005 [] -synonym: "myelodysplasia and leukemia syndrome with monosomy 7" EXACT [OMIM:252270] +synonym: "myelodysplasia and leukemia syndrome with monosomy 7" EXACT [] xref: GARD:18505 {source="MONDO:GARD"} xref: MEDGEN:381529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565370 {source="MONDO:equivalentTo"} @@ -208569,8 +208601,8 @@ subset: gard_rare {source="GARD:7059", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Morquio syndrome C" EXACT [OMIM:252300] -synonym: "Morquio syndrome type C" EXACT [MONDORULE:1, OMIM:252300] -synonym: "Morquio syndrome, Nonkeratosulfate-Excreting type" RELATED [OMIM:252300] +synonym: "Morquio syndrome type C" EXACT [MONDORULE:1] +synonym: "Morquio syndrome, Nonkeratosulfate-Excreting type" RELATED [] xref: GARD:7059 {source="MONDO:GARD"} xref: MEDGEN:443986 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536247 {source="MONDO:equivalentTo"} @@ -208589,7 +208621,7 @@ subset: ordo_disorder {source="Orphanet:2400"} subset: orphanet_rare {source="Orphanet:2400"} subset: rare synonym: "Lisker-Garcia-Ramos syndrome" EXACT [Orphanet:2400] -synonym: "motor neuropathy, peripheral, with dysautonomia" RELATED [OMIM:252320] +synonym: "motor neuropathy, peripheral, with dysautonomia" RELATED [] xref: GARD:3791 {source="MONDO:GARD"} xref: icd11.foundation:1468523039 {source="MONDO:equivalentTo"} xref: MEDGEN:381527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -208606,10 +208638,10 @@ name: moyamoya disease 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Moyamoya disease" RELATED [OMIM:252350] -synonym: "Moyamoya disease 1" RELATED [MONDO:Lexical, OMIM:252350] +synonym: "Moyamoya disease" RELATED [] +synonym: "Moyamoya disease 1" RELATED [MONDO:Lexical] synonym: "MYMY1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252350] -synonym: "spontaneous occlusion of the circle of Willis" RELATED [OMIM:252350] +synonym: "spontaneous occlusion of the circle of Willis" RELATED [] xref: ICD9:437.5 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:419790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536991 {source="MONDO:equivalentTo"} @@ -208632,17 +208664,17 @@ subset: rare synonym: "GNPTA" RELATED ABBREVIATION [GARD:0006749] synonym: "I Cell Disease" EXACT [NORD:1279] synonym: "I cell disease" RELATED [GARD:0006749] -synonym: "I-cell disease" EXACT [DOID:0080070, OMIM:252500, Orphanet:576] +synonym: "I-cell disease" EXACT [DOID:0080070, NCIT:C61270, OMIM:252500, Orphanet:576] synonym: "inclusion cell disease" RELATED [GARD:0006749] synonym: "Leroy disease" RELATED [GARD:0006749] synonym: "ML 2" RELATED [GARD:0006749] -synonym: "ML 2 Alpha/Beta" RELATED [OMIM:252500] +synonym: "ML 2 Alpha/Beta" RELATED [] synonym: "ML disorder type 2" RELATED [GARD:0006749] -synonym: "mucolipidosis 2" RELATED [OMIM:252500] -synonym: "mucolipidosis 2 alpha/beta" RELATED [OMIM:252500] +synonym: "mucolipidosis 2" RELATED [] +synonym: "mucolipidosis 2 alpha/beta" RELATED [] synonym: "mucolipidosis II" EXACT [DOID:0080070] -synonym: "mucolipidosis II alpha/beta" RELATED [OMIM:252500] -synonym: "mucolipidosis type II" EXACT [NCIT:C61270] +synonym: "mucolipidosis II alpha/beta" RELATED [] +synonym: "mucolipidosis type II" EXACT [NCIT:C61270, Orphanet:576] synonym: "mucolipidosis type II alpha/beta" EXACT [Orphanet:576] synonym: "N-acetylglucosamine 1-phosphotransferase deficiency" EXACT [Orphanet:576] synonym: "N-acetylglucosamine 1phosphotransferase deficiency" RELATED [GARD:0006749] @@ -208686,16 +208718,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "GNPTG-mucolipidosis" EXACT CLINGEN_LABEL [https://orcid.org/0000-0002-5655-9589] synonym: "ML 3 gamma" EXACT [OMIM:252605, Orphanet:423470] -synonym: "ML 3C" RELATED [OMIM:252605] +synonym: "ML 3C" RELATED [] synonym: "ML III gamma" EXACT [Orphanet:423470] -synonym: "mucolipidosis 3 gamma" RELATED [OMIM:252605] -synonym: "mucolipidosis 3C" RELATED [OMIM:252605] -synonym: "mucolipidosis III gamma" RELATED [OMIM:252605] -synonym: "mucolipidosis III, complementation group C" RELATED [OMIM:252605] -synonym: "mucolipidosis III, Iranian variant form" RELATED [OMIM:252605] -synonym: "mucolipidosis III, variant form" RELATED [OMIM:252605] +synonym: "mucolipidosis 3 gamma" RELATED [] +synonym: "mucolipidosis 3C" RELATED [] +synonym: "mucolipidosis III gamma" RELATED [] +synonym: "mucolipidosis III, complementation group C" RELATED [] +synonym: "mucolipidosis III, Iranian variant form" RELATED [] +synonym: "mucolipidosis III, variant form" RELATED [] synonym: "mucolipidosis type 3 gamma" EXACT [Orphanet:423470] -synonym: "mucolipidosis type III gamma" EXACT [Orphanet:423470] +synonym: "mucolipidosis type III gamma" EXACT [NCIT:C129978, Orphanet:423470] xref: DOID:0080678 {source="MONDO:equivalentTo"} xref: GARD:17705 {source="MONDO:GARD"} xref: ICD10CM:E77.0 {source="Orphanet:423470/attributed", source="Orphanet:423470/ntbt", source="Orphanet:423470"} @@ -208728,16 +208760,16 @@ subset: rare synonym: "Berman syndrome" RELATED [GARD:0000094, GTR:AN1125032] synonym: "ganglioside neuraminidase deficiency" RELATED [GARD:0000094, GTR:AN1125033] synonym: "ganglioside sialidase deficiency" RELATED [GARD:0000094, GTR:AN1124590] -synonym: "ML 4" RELATED [GARD:0000094, OMIM:252650] -synonym: "ML IV" EXACT ABBREVIATION [Orphanet:578] -synonym: "ML4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:252650] +synonym: "ML 4" RELATED [GARD:0000094] +synonym: "ML IV" EXACT ABBREVIATION [] +synonym: "ML4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MLIV" EXACT ABBREVIATION [GTR:AN1148743] -synonym: "mucolipidosis 4" RELATED [OMIM:252650] +synonym: "mucolipidosis 4" RELATED [] synonym: "Mucolipidosis IV" EXACT [NORD:1460] -synonym: "mucolipidosis IV" RELATED [MONDO:Lexical, OMIM:252650] -synonym: "mucolipidosis type 4" EXACT [MONDORULE:1, OMIM:252650] -synonym: "mucolipidosis type IV" EXACT [GARD:0000094] -synonym: "sialolipidosis" RELATED [OMIM:252650] +synonym: "mucolipidosis IV" RELATED [MONDO:Lexical] +synonym: "mucolipidosis type 4" EXACT [MONDORULE:1] +synonym: "mucolipidosis type IV" EXACT [DOID:0080490, GARD:0000094, NCIT:C84896, Orphanet:578] +synonym: "sialolipidosis" RELATED [] xref: DOID:0080490 {source="MONDO:equivalentTo"} xref: GARD:94 {source="MONDO:GARD"} xref: GTR:AN1124590 @@ -208764,7 +208796,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0009654 name: obsolete mucopolysaccharidoses, unclassified types -synonym: "mucopolysaccharidoses, unclassified types" EXACT [OMIM:252700] +synonym: "mucopolysaccharidoses, unclassified types" EXACT [] xref: MESH:C562442 {source="MONDO:obsoleteEquivalent"} xref: OMIM:252700 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 @@ -208784,25 +208816,25 @@ subset: ordo_etiological_subtype {source="Orphanet:79269"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79269"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "heparan sulfamidase deficiency" EXACT [Orphanet:79269] -synonym: "heparan sulfate sulfatase deficiency" RELATED [OMIM:252900] +synonym: "heparan sulfamidase deficiency" EXACT [DOID:0111395, icd11.foundation:182200345, Orphanet:79269] +synonym: "heparan sulfate sulfatase deficiency" RELATED [] synonym: "heparan sulphate sulfatase deficiency" RELATED OMO:0003005 [] synonym: "heparane sulfamidase deficiency" RELATED [GARD:0002649] -synonym: "MPS 3A" RELATED [OMIM:252900] +synonym: "MPS 3A" RELATED [] synonym: "MPS III A" EXACT [NCIT:C84897] synonym: "MPS IIIA" RELATED [GARD:0007071] -synonym: "MPS3A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252900, Orphanet:79269] -synonym: "MPSIIIA" EXACT ABBREVIATION [Orphanet:79269] +synonym: "MPS3A" EXACT ABBREVIATION [DOID:0111395, MONDO:Lexical, OMIM:252900, Orphanet:79269] +synonym: "MPSIIIA" EXACT ABBREVIATION [DOID:0111395, Orphanet:79269] synonym: "mucopoly-saccharidosis type 3A" RELATED [GARD:0007071] -synonym: "mucopolysaccharidosis type 3A" EXACT CLINGEN_LABEL [Orphanet:79269] -synonym: "mucopolysaccharidosis type IIIA" EXACT [Orphanet:79269] -synonym: "mucopolysaccharidosis type IIIA (Sanfilippo A)" EXACT [OMIM:252900, OMIM:genemap2] -synonym: "mucopolysaccharidosis, type 3A" RELATED [OMIM:252900] -synonym: "mucopolysaccharidosis, type IIIA" RELATED [MONDO:Lexical, OMIM:252900] +synonym: "mucopolysaccharidosis type 3A" EXACT CLINGEN_LABEL [DOID:0111395, icd11.foundation:182200345, Orphanet:79269] +synonym: "mucopolysaccharidosis type IIIA" EXACT [DOID:0111395, NCIT:C84897, Orphanet:79269] +synonym: "mucopolysaccharidosis type IIIA (Sanfilippo A)" EXACT [DOID:0111395] +synonym: "mucopolysaccharidosis, type 3A" RELATED [] +synonym: "mucopolysaccharidosis, type IIIA" RELATED [MONDO:Lexical] synonym: "Sanfilippo A" EXACT [NCIT:C84897] synonym: "Sanfilippo syndrome a" EXACT [OMIM:252900] -synonym: "Sanfilippo syndrome type A" EXACT [OMIM:252900] -synonym: "sulfamidase deficiency" RELATED [OMIM:252900] +synonym: "Sanfilippo syndrome type A" EXACT [DOID:0111395, icd11.foundation:182200345, Orphanet:79269] +synonym: "sulfamidase deficiency" RELATED [] xref: DOID:0111395 {source="MONDO:equivalentTo"} xref: GARD:7071 {source="MONDO:GARD"} xref: ICD10CM:E76.2 {source="Orphanet:79269/attributed", source="Orphanet:79269/ntbt", source="Orphanet:79269"} @@ -208837,23 +208869,23 @@ subset: ordo_etiological_subtype {source="Orphanet:79270"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79270"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MPS 3B" RELATED [OMIM:252920] +synonym: "MPS 3B" RELATED [] synonym: "MPS III B" EXACT [NCIT:C84898] synonym: "MPS IIIB" RELATED [GARD:0007072] -synonym: "MPS3B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252920, Orphanet:79270] -synonym: "MPSIIIB" EXACT ABBREVIATION [Orphanet:79270] +synonym: "MPS3B" EXACT ABBREVIATION [DOID:0111394, MONDO:Lexical, OMIM:252920, Orphanet:79270] +synonym: "MPSIIIB" EXACT ABBREVIATION [DOID:0111394, Orphanet:79270] synonym: "Mucopoly-saccharidosis type 3B" RELATED [GARD:0007072] -synonym: "mucopolysaccharidosis type 3B" EXACT CLINGEN_LABEL [Orphanet:79270] -synonym: "mucopolysaccharidosis type IIIB" EXACT [Orphanet:79270] -synonym: "mucopolysaccharidosis type IIIB (Sanfilippo B)" EXACT [OMIM:252920, OMIM:genemap2] -synonym: "mucopolysaccharidosis, type 3B" RELATED [OMIM:252920] -synonym: "mucopolysaccharidosis, type IIIB" RELATED [MONDO:Lexical, OMIM:252920] -synonym: "N-Acetyl-Alpha-D-glucosaminidase deficiency" RELATED [OMIM:252920] -synonym: "N-acetyl-alpha-glucosaminidase deficiency" EXACT [Orphanet:79270] -synonym: "NAGLU deficiency" RELATED [OMIM:252920] +synonym: "mucopolysaccharidosis type 3B" EXACT CLINGEN_LABEL [DOID:0111394, icd11.foundation:117303909, Orphanet:79270] +synonym: "mucopolysaccharidosis type IIIB" EXACT [DOID:0111394, NCIT:C84898, Orphanet:79270] +synonym: "mucopolysaccharidosis type IIIB (Sanfilippo B)" EXACT [DOID:0111394] +synonym: "mucopolysaccharidosis, type 3B" RELATED [] +synonym: "mucopolysaccharidosis, type IIIB" RELATED [MONDO:Lexical] +synonym: "N-Acetyl-Alpha-D-glucosaminidase deficiency" RELATED [] +synonym: "N-acetyl-alpha-glucosaminidase deficiency" EXACT [DOID:0111394, Orphanet:79270] +synonym: "NAGLU deficiency" RELATED [] synonym: "Sanfilippo B" EXACT [NCIT:C84898] synonym: "Sanfilippo syndrome B" EXACT [OMIM:252920] -synonym: "Sanfilippo syndrome type B" EXACT [OMIM:252920] +synonym: "Sanfilippo syndrome type B" EXACT [DOID:0111394, icd11.foundation:117303909, Orphanet:79270] xref: DOID:0111394 {source="MONDO:equivalentTo"} xref: GARD:7072 {source="MONDO:GARD"} xref: ICD10CM:E76.2 {source="Orphanet:79270/attributed", source="Orphanet:79270/ntbt", source="Orphanet:79270"} @@ -208885,23 +208917,23 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:79271"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency" RELATED [GARD:0007073] -synonym: "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency" RELATED [OMIM:252930] -synonym: "heparan-alpha-glucosaminide N-acetyltransferase deficiency" EXACT [Orphanet:79271] -synonym: "HGSNAT deficiency" EXACT [Orphanet:79271] -synonym: "MPS 3C" RELATED [OMIM:252930] +synonym: "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency" RELATED [] +synonym: "heparan-alpha-glucosaminide N-acetyltransferase deficiency" EXACT [DOID:0111393, Orphanet:79271] +synonym: "HGSNAT deficiency" EXACT [DOID:0111393, Orphanet:79271] +synonym: "MPS 3C" RELATED [] synonym: "MPS III C" EXACT [NCIT:C84899] synonym: "MPS IIIC" RELATED [GARD:0007073] -synonym: "MPS3C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252930, Orphanet:79271] -synonym: "MPSIIIC" EXACT ABBREVIATION [Orphanet:79271] +synonym: "MPS3C" EXACT ABBREVIATION [DOID:0111393, MONDO:Lexical, OMIM:252930, Orphanet:79271] +synonym: "MPSIIIC" EXACT ABBREVIATION [DOID:0111393, Orphanet:79271] synonym: "Mucopoly-saccharidosis type 3C" RELATED [GARD:0007073] -synonym: "mucopolysaccharidosis type 3C" EXACT CLINGEN_LABEL [OMIM:252930, Orphanet:79271] -synonym: "mucopolysaccharidosis type IIIC" EXACT [Orphanet:79271] -synonym: "mucopolysaccharidosis type IIIC (Sanfilippo C)" EXACT [OMIM:252930, OMIM:genemap2] -synonym: "mucopolysaccharidosis, type 3C" RELATED [OMIM:252930] -synonym: "mucopolysaccharidosis, type IIIC" RELATED [MONDO:Lexical, OMIM:252930] +synonym: "mucopolysaccharidosis type 3C" EXACT CLINGEN_LABEL [DOID:0111393, icd11.foundation:1755913480, Orphanet:79271] +synonym: "mucopolysaccharidosis type IIIC" EXACT [DOID:0111393, NCIT:C84899, Orphanet:79271] +synonym: "mucopolysaccharidosis type IIIC (Sanfilippo C)" EXACT [DOID:0111393] +synonym: "mucopolysaccharidosis, type 3C" RELATED [] +synonym: "mucopolysaccharidosis, type IIIC" RELATED [MONDO:Lexical] synonym: "Sanfilippo C" EXACT [NCIT:C84899] -synonym: "Sanfilippo syndrome C" RELATED [OMIM:252930] -synonym: "Sanfilippo syndrome type C" EXACT [OMIM:252930] +synonym: "Sanfilippo syndrome C" RELATED [] +synonym: "Sanfilippo syndrome type C" EXACT [DOID:0111393, icd11.foundation:1755913480, Orphanet:79271] xref: DOID:0111393 {source="MONDO:equivalentTo"} xref: GARD:7073 {source="MONDO:GARD"} xref: ICD10CM:E76.2 {source="Orphanet:79271", source="Orphanet:79271/attributed", source="Orphanet:79271/ntbt"} @@ -208934,22 +208966,22 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:79272"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glucosamine N-acetyl-6-sulfatase deficiency" EXACT [Orphanet:79272] -synonym: "GNS deficiency" EXACT [Orphanet:79272] -synonym: "MPS 3D" RELATED [OMIM:252940] +synonym: "GNS deficiency" EXACT [DOID:0111402, Orphanet:79272] +synonym: "MPS 3D" RELATED [] synonym: "MPS III D" EXACT [NCIT:C84900] synonym: "MPS IIID" RELATED [GARD:0007074] -synonym: "MPS3D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:252940, Orphanet:79272] +synonym: "MPS3D" EXACT ABBREVIATION [DOID:0111402, MONDO:Lexical, OMIM:252940, Orphanet:79272] synonym: "MPSIIID" EXACT ABBREVIATION [Orphanet:79272] synonym: "Mucopoly-saccharidosis type 3D" RELATED [GARD:0007074] -synonym: "mucopolysaccharidosis type 3D" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40110/, Orphanet:79272] -synonym: "mucopolysaccharidosis type IIID" EXACT [Orphanet:79272] -synonym: "mucopolysaccharidosis, type 3D" RELATED [OMIM:252940] -synonym: "mucopolysaccharidosis, type IIID" RELATED [MONDO:Lexical, OMIM:252940] -synonym: "N-acetylglucosamine-6-sulfatase deficiency" RELATED [OMIM:252940] +synonym: "mucopolysaccharidosis type 3D" EXACT CLINGEN_LABEL [DOID:0111402, https://clinicalgenome.org/affiliation/40110/, icd11.foundation:1780990193, Orphanet:79272] +synonym: "mucopolysaccharidosis type IIID" EXACT [DOID:0111402, NCIT:C84900, Orphanet:79272] +synonym: "mucopolysaccharidosis, type 3D" RELATED [] +synonym: "mucopolysaccharidosis, type IIID" RELATED [MONDO:Lexical] +synonym: "N-acetylglucosamine-6-sulfatase deficiency" RELATED [] synonym: "N-acetylglucosamine-6-sulfate sulfatase deficiency" RELATED [GARD:0007074] synonym: "Sanfilippo D" EXACT [NCIT:C84900] -synonym: "Sanfilippo syndrome D" EXACT [OMIM:252940] -synonym: "Sanfilippo syndrome type D" EXACT [OMIM:252940] +synonym: "Sanfilippo syndrome D" EXACT [DOID:0111402, OMIM:252940] +synonym: "Sanfilippo syndrome type D" EXACT [DOID:0111402, icd11.foundation:1780990193, Orphanet:79272] xref: DOID:0111402 {source="MONDO:equivalentTo"} xref: GARD:7074 {source="MONDO:GARD"} xref: ICD10CM:E76.2 {source="Orphanet:79272", source="Orphanet:79272/attributed", source="Orphanet:79272/ntbt"} @@ -208981,21 +209013,21 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309297"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "galactosamine-6-sulfatase deficiency" EXACT [Orphanet:309297] -synonym: "GALNS deficiency" EXACT [OMIM:253000, Orphanet:309297] -synonym: "Morquio A disease" BROAD [OMIM:253000] +synonym: "galactosamine-6-sulfatase deficiency" EXACT [OMIM:253000, Orphanet:309297] +synonym: "GALNS deficiency" EXACT [DOID:0111391, OMIM:253000, Orphanet:309297] +synonym: "Morquio A disease" BROAD [] synonym: "Morquio disease type A" EXACT [Orphanet:309297] -synonym: "Morquio syndrome A" EXACT [OMIM:253000] -synonym: "MPS 4A" RELATED [OMIM:253000] +synonym: "Morquio syndrome A" EXACT [DOID:0111391, OMIM:253000] +synonym: "MPS 4A" RELATED [] synonym: "MPS IV A" EXACT [NCIT:C84901] synonym: "MPS IVA" RELATED [GARD:0003785] -synonym: "MPS4A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253000, Orphanet:309297] +synonym: "MPS4A" EXACT ABBREVIATION [DOID:0111391, MONDO:Lexical, OMIM:253000, Orphanet:309297] synonym: "MPSIVA" EXACT ABBREVIATION [Orphanet:309297] -synonym: "mucopolysaccharidosis IVA" EXACT [OMIM:253000, OMIM:genemap2] -synonym: "mucopolysaccharidosis type 4A" EXACT CLINGEN_LABEL [] -synonym: "mucopolysaccharidosis type IVA" EXACT [Orphanet:309297] -synonym: "mucopolysaccharidosis, type 4A" RELATED [OMIM:253000] -synonym: "mucopolysaccharidosis, type IVA" RELATED [MONDO:Lexical, OMIM:253000] +synonym: "mucopolysaccharidosis IVA" EXACT [DOID:0111391] +synonym: "mucopolysaccharidosis type 4A" EXACT CLINGEN_LABEL [icd11.foundation:1919173641, Orphanet:309297] +synonym: "mucopolysaccharidosis type IVA" EXACT [NCIT:C84901, Orphanet:309297] +synonym: "mucopolysaccharidosis, type 4A" RELATED [] +synonym: "mucopolysaccharidosis, type IVA" RELATED [MONDO:Lexical] synonym: "N-acetylgalactosamine-6-sulfate sulfatase deficiency" EXACT [Orphanet:309297] xref: DOID:0111391 {source="MONDO:equivalentTo"} xref: GARD:3785 {source="MONDO:GARD"} @@ -209029,18 +209061,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309310"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Beta-D-galactosidase deficiency" EXACT [Orphanet:309310] -synonym: "Morquio disease type B" EXACT [Orphanet:309310] -synonym: "Morquio syndrome B" EXACT [OMIM:253010] +synonym: "Beta-D-galactosidase deficiency" EXACT [DOID:0111392, icd11.foundation:1479415032, Orphanet:309310] +synonym: "Morquio disease type B" EXACT [DOID:0111392, Orphanet:309310] +synonym: "Morquio syndrome B" EXACT [DOID:0111392, OMIM:253010] synonym: "MPS 4B" EXACT [OMIM:253010] synonym: "MPS IV B" EXACT [NCIT:C84902] synonym: "MPS IVB" RELATED [GARD:0003786] -synonym: "MPS4B" EXACT ABBREVIATION [Orphanet:309310] +synonym: "MPS4B" EXACT ABBREVIATION [DOID:0111392, OMIM:253010, Orphanet:309310] synonym: "MPSIVB" EXACT ABBREVIATION [Orphanet:309310] -synonym: "mucopolysaccharidosis type IVB" EXACT [Orphanet:309310] -synonym: "mucopolysaccharidosis type IVB (Morquio)" EXACT [OMIM:253010, OMIM:genemap2] -synonym: "mucopolysaccharidosis, type 4B" RELATED [OMIM:253010] -synonym: "mucopolysaccharidosis, type IVB" RELATED [OMIM:253010] +synonym: "mucopolysaccharidosis type IVB" EXACT [DOID:0111392, NCIT:C84902, Orphanet:309310] +synonym: "mucopolysaccharidosis type IVB (Morquio)" EXACT [DOID:0111392] +synonym: "mucopolysaccharidosis, type 4B" RELATED [] +synonym: "mucopolysaccharidosis, type IVB" RELATED [] xref: DOID:0111392 {source="MONDO:equivalentTo"} xref: GARD:3786 {source="MONDO:GARD"} xref: ICD10CM:E76.2 {source="Orphanet:309310", source="Orphanet:309310/attributed", source="Orphanet:309310/ntbt"} @@ -209074,27 +209106,27 @@ subset: ordo_disorder {source="Orphanet:583"} subset: orphanet_rare {source="Orphanet:583"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ARSB deficiency" EXACT [Orphanet:583] -synonym: "Arsb deficiency" RELATED [OMIM:253200] -synonym: "arylsulfatase B deficiency" EXACT [DOID:12800, Orphanet:583] +synonym: "ARSB deficiency" EXACT [OMIM:253200, Orphanet:583] +synonym: "Arsb deficiency" RELATED [] +synonym: "arylsulfatase B deficiency" EXACT [DOID:12800, icd11.foundation:1288379621, OMIM:253200, Orphanet:583] synonym: "ASB deficiency" EXACT [Orphanet:583] synonym: "deficiency of N-acetylgalactosamine-4-sulfatase" EXACT [DOID:12800] synonym: "Maroteaux - Lamy syndrome" EXACT [DOID:12800] synonym: "Maroteaux Lamy Syndrome" EXACT [NORD:1405] synonym: "Maroteaux Lamy syndrome" RELATED [GARD:0007095] synonym: "Maroteaux-Lamy disease" EXACT [Orphanet:583] -synonym: "Maroteaux-Lamy syndrome" EXACT [DOID:12800] -synonym: "MPS 6" RELATED [OMIM:253200] +synonym: "Maroteaux-Lamy syndrome" EXACT [DOID:12800, icd11.foundation:1288379621, NCIT:C61264, OMIM:253200] +synonym: "MPS 6" RELATED [] synonym: "MPS VI" RELATED [GARD:0007095] synonym: "MPS VI - Maroteaux-Lamy syndrome" EXACT [DOID:12800] synonym: "MPS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253200, Orphanet:583] synonym: "MPSVI" EXACT ABBREVIATION [Orphanet:583] synonym: "Mucopoly-saccharidosis type VI" RELATED [GARD:0007095] -synonym: "mucopolysaccharidosis type VI" EXACT [DOID:12800, MONDO:Lexical, MONDORULE:3, OMIM:253200, Orphanet:583] -synonym: "mucopolysaccharidosis type VI (Maroteaux-Lamy)" EXACT [OMIM:253200, OMIM:genemap2] -synonym: "mucopolysaccharidosis VI" RELATED [DOID:12800] -synonym: "N-acetylgalactosamine 4-sulfatase deficiency" EXACT [Orphanet:583] -synonym: "N-acetylgalactosamine-4-sulfatase deficiency" RELATED [OMIM:253200] +synonym: "mucopolysaccharidosis type VI" EXACT [MONDO:Lexical, MONDORULE:3, NCIT:C61264, Orphanet:583] +synonym: "mucopolysaccharidosis type VI (Maroteaux-Lamy)" EXACT [] +synonym: "mucopolysaccharidosis VI" RELATED [] +synonym: "N-acetylgalactosamine 4-sulfatase deficiency" EXACT [icd11.foundation:1288379621, Orphanet:583] +synonym: "N-acetylgalactosamine-4-sulfatase deficiency" RELATED [] xref: DOID:12800 {source="MONDO:equivalentTo"} xref: GARD:7095 {source="MONDO:GARD"} xref: ICD10CM:E76.2 {source="Orphanet:583/inclusion", source="Orphanet:583/ntbt", source="Orphanet:583"} @@ -209138,27 +209170,27 @@ subset: ordo_disorder {source="Orphanet:584"} subset: orphanet_rare {source="Orphanet:584"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Beta-glucuronidase deficiency" EXACT [Orphanet:584] -synonym: "beta-glucuronidase deficiency" EXACT [DOID:12803] +synonym: "Beta-glucuronidase deficiency" EXACT [DOID:12803, icd11.foundation:1563668250, NCIT:C84903, OMIM:253220, Orphanet:584] +synonym: "beta-glucuronidase deficiency" EXACT [DOID:12803, icd11.foundation:1563668250, NCIT:C84903, OMIM:253220, Orphanet:584] synonym: "deficiency of beta-glucuronidase" EXACT [DOID:12803] synonym: "Gus deficiency" RELATED [] -synonym: "Gusb deficiency" RELATED [OMIM:253220] +synonym: "Gusb deficiency" RELATED [] synonym: "gusb deficiency" RELATED [] -synonym: "MPS 7" RELATED [OMIM:253220] +synonym: "MPS 7" RELATED [] synonym: "MPS VII" RELATED [GARD:0007096] synonym: "MPS VII - mucopolysaccharidosis VII" RELATED [] synonym: "MPS VII - Sly syndrome" EXACT [DOID:12803] synonym: "MPS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253220, Orphanet:584] synonym: "MPSVII" EXACT ABBREVIATION [Orphanet:584] -synonym: "mucopolysaccharidosis type 7" EXACT CLINGEN_LABEL [] -synonym: "Mucopolysaccharidosis Type VII" EXACT [NORD:1722] -synonym: "mucopolysaccharidosis type VII" EXACT [Orphanet:584] +synonym: "mucopolysaccharidosis type 7" EXACT CLINGEN_LABEL [icd11.foundation:1563668250, Orphanet:584] +synonym: "Mucopolysaccharidosis Type VII" EXACT [NCIT:C84903, NORD:1722, Orphanet:584] +synonym: "mucopolysaccharidosis type VII" EXACT [NCIT:C84903, Orphanet:584] synonym: "mucopolysaccharidosis VII" EXACT [DOID:12803] synonym: "mucopolysaccharidosis, mps-VII" EXACT [] -synonym: "mucopolysaccharidosis, type 7" RELATED [OMIM:253220] -synonym: "mucopolysaccharidosis, type VII" RELATED [MONDO:Lexical, OMIM:253220] -synonym: "Sly disease" EXACT [Orphanet:584] -synonym: "Sly syndrome" EXACT [OMIM:253220] +synonym: "mucopolysaccharidosis, type 7" RELATED [] +synonym: "mucopolysaccharidosis, type VII" RELATED [MONDO:Lexical] +synonym: "Sly disease" EXACT [icd11.foundation:1563668250, Orphanet:584] +synonym: "Sly syndrome" EXACT [DOID:12803, icd11.foundation:1563668250, NCIT:C84903, OMIM:253220] xref: DOID:12803 {source="MONDO:equivalentTo"} xref: GARD:7096 {source="MONDO:GARD"} xref: ICD10CM:E76.2 {source="Orphanet:584/ntbt", source="Orphanet:584/inclusion", source="Orphanet:584"} @@ -209210,14 +209242,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:2576"} subset: orphanet_rare {source="Orphanet:2576"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MUL" EXACT ABBREVIATION [Orphanet:2576] -synonym: "mulibrey dwarfism" EXACT [Orphanet:2576] -synonym: "mulibrey nanism" EXACT CLINGEN_LABEL [OMIM:253250] +synonym: "MUL" EXACT ABBREVIATION [DOID:0050436, OMIM:253250, Orphanet:2576] +synonym: "mulibrey dwarfism" EXACT [icd11.foundation:1167260635] +synonym: "mulibrey nanism" EXACT CLINGEN_LABEL [DOID:0050436, icd11.foundation:1167260635, NCIT:C84906, OMIM:253250, Orphanet:2576] synonym: "muscle-liver-brain-eye nanism" EXACT [DOID:0050436, OMIM:253250, Orphanet:2576] -synonym: "Perheentupa syndrome" EXACT [DOID:0050436, OMIM:253250, Orphanet:2576] -synonym: "pericardial constriction and Growth failure" RELATED [OMIM:253250] -synonym: "pericardial constriction and growth failure" EXACT [DOID:0050436] -synonym: "pericardial constriction-growth failure syndrome" EXACT [Orphanet:2576] +synonym: "Perheentupa syndrome" EXACT [DOID:0050436, icd11.foundation:1167260635, NCIT:C84906, OMIM:253250] +synonym: "pericardial constriction and Growth failure" RELATED [] +synonym: "pericardial constriction and growth failure" EXACT [DOID:0050436, OMIM:253250] +synonym: "pericardial constriction-growth failure syndrome" EXACT [] xref: DOID:0050436 {source="MONDO:equivalentTo"} xref: GARD:95 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2576/attributed", source="Orphanet:2576/ntbt", source="Orphanet:2576"} @@ -209254,14 +209286,14 @@ subset: orphanet_rare {source="Orphanet:79241"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "biotin deficiency" RELATED [GARD:0000894] -synonym: "biotinidase deficiency" EXACT CLINGEN_LABEL [OMIM:253260] -synonym: "BTD deficiency" EXACT [DOID:856, OMIM:253260, Orphanet:79241] +synonym: "biotinidase deficiency" EXACT CLINGEN_LABEL [DOID:856, ICD10CM:D81.810, NCIT:C84598, OMIM:253260, Orphanet:79241] +synonym: "BTD deficiency" EXACT [DOID:856, OMIM:253260] synonym: "deficiency of biotinidase" EXACT [DOID:856] synonym: "juvenile-onset multiple carboxylase deficiency" EXACT [DOID:856, Orphanet:79241] synonym: "late-onset biotin-responsive multiple carboxylase deficiency" RELATED [GARD:0000894] synonym: "late-onset multiple carboxylase deficiency" EXACT [DOID:856, Orphanet:79241] -synonym: "multiple carboxylase deficiency, juvenile-onset" RELATED [OMIM:253260] -synonym: "multiple carboxylase deficiency, late-onset" RELATED [OMIM:253260] +synonym: "multiple carboxylase deficiency, juvenile-onset" RELATED [] +synonym: "multiple carboxylase deficiency, late-onset" RELATED [] xref: DOID:856 {source="MONDO:equivalentTo"} xref: GARD:894 {source="MONDO:GARD"} xref: ICD10CM:D81.810 {source="DOID:856", source="MONDO:equivalentTo"} @@ -209301,13 +209333,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "biotin-(propionyl-CoA-carboxylase) ligase deficiency" EXACT [DOID:859] synonym: "early-onset multiple carboxylase deficiency" EXACT [Orphanet:79242] -synonym: "HLCS deficiency" RELATED [OMIM:253270] +synonym: "HLCS deficiency" RELATED [] synonym: "holocarboxylase synthase deficiency" EXACT MISSPELLING [] -synonym: "holocarboxylase synthetase deficiency" EXACT CLINGEN_LABEL [NCIT:C98842, OMIM:253270] -synonym: "multiple carboxylase deficiency" BROAD [NCIT:C98842] +synonym: "holocarboxylase synthetase deficiency" EXACT CLINGEN_LABEL [DOID:859, NCIT:C98842, OMIM:253270, Orphanet:79242] +synonym: "multiple carboxylase deficiency" BROAD [] synonym: "multiple carboxylase deficiency - neonatal onset" EXACT [DOID:859] -synonym: "multiple carboxylase deficiency, early onset" RELATED [OMIM:253270] -synonym: "multiple carboxylase deficiency, neonatal form" RELATED [OMIM:253270] +synonym: "multiple carboxylase deficiency, early onset" RELATED [] +synonym: "multiple carboxylase deficiency, neonatal form" RELATED [] synonym: "neonatal multiple carboxylase deficiency" EXACT [NCIT:C98842, Orphanet:79242] xref: DOID:859 {source="MONDO:equivalentTo"} xref: GARD:2721 {source="MONDO:GARD"} @@ -209344,11 +209376,11 @@ subset: gard_rare {source="GARD:15204", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDDGA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:253280] +synonym: "MDDGA3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "muscle-eye-brain-POMGNT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3" EXACT [NCIT:C126740] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3" RELATED [MONDO:Lexical, OMIM:253280] -synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related" RELATED [OMIM:253280] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3" RELATED [MONDO:Lexical] +synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related" RELATED [] xref: DOID:0111236 {source="MONDO:equivalentTo"} xref: GARD:15204 {source="MONDO:GARD"} xref: MEDGEN:462869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -209375,12 +209407,12 @@ subset: orphanet_rare {source="Orphanet:33108"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive lethal multiple pterygium syndrome" EXACT [Orphanet:33108] -synonym: "lethal multiple pterygium syndrome" EXACT [GARD:0003834] +synonym: "lethal multiple pterygium syndrome" EXACT [GARD:0003834, NCIT:C101038, Orphanet:33108] synonym: "LMPS" EXACT ABBREVIATION [GARD:0003834, MONDO:Lexical, OMIM:253290, Orphanet:33108] synonym: "multiple pterygium syndrome lethal type" RELATED [GARD:0003834] -synonym: "multiple pterygium syndrome, lethal type" RELATED [MONDO:Lexical, OMIM:253290] +synonym: "multiple pterygium syndrome, lethal type" RELATED [MONDO:Lexical] synonym: "pterygium syndrome multiple lethal type" RELATED [GARD:0003834] -synonym: "pterygium syndrome, multiple, lethal type" RELATED [OMIM:253290] +synonym: "pterygium syndrome, multiple, lethal type" RELATED [] xref: GARD:3834 {source="MONDO:GARD"} xref: ICD10CM:Q79.8 {source="Orphanet:33108/attributed", source="Orphanet:33108/ntbt", source="Orphanet:33108"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -209407,28 +209439,28 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary motor neuropathy proximal type I" EXACT [DOID:13137] synonym: "HMN (hereditary motor neuropathy) proximal type I" EXACT [DOID:13137] -synonym: "infantile muscular atrophy" BROAD [DOID:13137] -synonym: "infantile spinal muscular atrophy" BROAD [Orphanet:83330] -synonym: "muscular atrophy, infantile" RELATED [OMIM:253300] +synonym: "infantile muscular atrophy" BROAD [] +synonym: "infantile spinal muscular atrophy" BROAD [] +synonym: "muscular atrophy, infantile" RELATED [] synonym: "progressive muscular atrophy of infancy" EXACT [DOID:13137] -synonym: "proximal spinal muscular atrophy type 1" RELATED [Orphanet:83330] +synonym: "proximal spinal muscular atrophy type 1" RELATED [] synonym: "proximal spinal muscular atrophy, type 1" RELATED [GARD:0007883] synonym: "severe infantile spinal muscular atrophy" EXACT [NCIT:C98670] synonym: "SMA type 1" EXACT [Orphanet:83330] synonym: "SMA type I" EXACT [Orphanet:83330] -synonym: "SMA, infantile acute form" RELATED [OMIM:253300] -synonym: "SMA-I" EXACT [Orphanet:83330] -synonym: "SMA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253300, Orphanet:83330] +synonym: "SMA, infantile acute form" RELATED [] +synonym: "SMA-I" EXACT ABBREVIATION [Orphanet:83330] +synonym: "SMA1" EXACT ABBREVIATION [DOID:13137, MONDO:Lexical, OMIM:253300, Orphanet:83330] synonym: "SMNI" EXACT ABBREVIATION [https://orcid.org/0000-0001-9310-0163] -synonym: "spinal muscular atrophies of childhood" BROAD [DOID:0060160] +synonym: "spinal muscular atrophies of childhood" BROAD [] synonym: "spinal muscular atrophy 1" RELATED [GARD:0007883] -synonym: "spinal muscular atrophy, type I" RELATED [MONDO:Lexical, OMIM:253300] -synonym: "spinal muscular atrophy-1" EXACT [OMIM:253300, OMIM:genemap2] +synonym: "spinal muscular atrophy, type I" RELATED [MONDO:Lexical] +synonym: "spinal muscular atrophy-1" EXACT [] synonym: "survival motor neuron spinal muscular atrophy" EXACT [MONDO:0000689] synonym: "Werdnig Hoffmann disease" EXACT [GARD:0007883] -synonym: "Werdnig-Hoffman disease" EXACT [DOID:13137] -synonym: "Werdnig-Hoffmann Disease" EXACT [NORD:1844] -synonym: "Werdnig-Hoffmann disease" EXACT [OMIM:253300, Orphanet:83330] +synonym: "Werdnig-Hoffman disease" EXACT [] +synonym: "Werdnig-Hoffmann Disease" EXACT [DOID:13137, icd11.foundation:915903258, NCIT:C98670, NORD:1844, OMIM:253300, Orphanet:83330] +synonym: "Werdnig-Hoffmann disease" EXACT [DOID:13137, icd11.foundation:915903258, NCIT:C98670, OMIM:253300, Orphanet:83330] xref: DOID:0060160 {source="MONDO:mondoIsNarrowerThanSource"} xref: DOID:13137 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:7883 {source="MONDO:GARD"} @@ -209471,12 +209503,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "GLE1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Herva disease" EXACT [Orphanet:1486] -synonym: "Lccs" RELATED [OMIM:253310] +synonym: "Lccs" RELATED [] synonym: "LCCS1" EXACT ABBREVIATION [DOID:0060559, MONDO:Lexical, OMIM:253310, Orphanet:1486] synonym: "lethal autosomal recessive syndrome of multiple congenital contractures" RELATED [GARD:0003227] -synonym: "lethal congenital contracture syndrome 1" EXACT [MONDO:Lexical, OMIM:253310] +synonym: "lethal congenital contracture syndrome 1" EXACT [DOID:0060559, MONDO:Lexical, OMIM:253310] synonym: "lethal congenital contracture syndrome caused by mutation in GLE1" EXACT [MONDO:design_pattern] -synonym: "lethal congenital contracture syndrome type 1" EXACT [DOID:0060559, MONDORULE:1, OMIM:253310] +synonym: "lethal congenital contracture syndrome type 1" EXACT [MONDORULE:1, Orphanet:1486] synonym: "multiple contracture syndrome, Finnish type" EXACT [DOID:0060559, OMIM:253310, Orphanet:1486] xref: DOID:0060559 {source="MONDO:equivalentTo"} xref: GARD:3227 {source="MONDO:GARD"} @@ -209507,10 +209539,10 @@ subset: orphanet_rare {source="Orphanet:3068"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Chudley Rozdilsky syndrome" RELATED [GARD:0001358] -synonym: "Chudley syndrome" RELATED [OMIM:253320] +synonym: "Chudley syndrome" RELATED [] synonym: "Chudley-Rozdilsky syndrome" EXACT [Orphanet:3068] -synonym: "multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism" RELATED [OMIM:253320] -synonym: "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" RELATED DEPRECATED [OMIM:253320] +synonym: "multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism" RELATED [] +synonym: "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism" RELATED DEPRECATED [] xref: GARD:1358 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3068", source="Orphanet:3068/attributed", source="Orphanet:3068/ntbt"} xref: MEDGEN:381471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -209533,30 +209565,30 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:83419"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "childhood spinal muscular atrophy" BROAD [MONDO:design_pattern] -synonym: "juvenile spinal muscular atrophy" BROAD [Orphanet:83419] +synonym: "juvenile spinal muscular atrophy" BROAD [] synonym: "Kugelberg Welander Syndrome" EXACT [NORD:1342] -synonym: "Kugelberg-Welander disease" EXACT [DOID:12376, ICD9CM:335.11, Orphanet:83419] -synonym: "Kugelberg-Welander syndrome" RELATED [GARD:0000198, OMIM:253400] +synonym: "Kugelberg-Welander disease" EXACT [DOID:12376, icd11.foundation:677572815, ICD9CM:335.11, NCIT:C118847, Orphanet:83419] +synonym: "Kugelberg-Welander syndrome" RELATED [GARD:0000198] synonym: "KWS" RELATED ABBREVIATION [GARD:0000198] -synonym: "muscular atrophy, juvenile" RELATED [GARD:0000198, OMIM:253400] +synonym: "muscular atrophy, juvenile" RELATED [GARD:0000198] synonym: "paediatric spinal muscular atrophy" RELATED OMO:0003005 [] synonym: "pediatric spinal muscular atrophy" RELATED [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "proximal spinal muscular atrophy type 3" RELATED [Orphanet:83419] +synonym: "proximal spinal muscular atrophy type 3" RELATED [] synonym: "SMA 3" RELATED [GARD:0000198] -synonym: "Sma 3" RELATED [OMIM:253400] +synonym: "Sma 3" RELATED [] synonym: "SMA type 3" EXACT [Orphanet:83419] synonym: "SMA type III" EXACT [Orphanet:83419] -synonym: "SMA-III" EXACT [Orphanet:83419] +synonym: "SMA-III" EXACT ABBREVIATION [Orphanet:83419] synonym: "SMA3" EXACT ABBREVIATION [DOID:12376, GARD:0000198, MONDO:Lexical, OMIM:253400, Orphanet:83419] synonym: "spinal muscular atrophy III" EXACT [NCIT:C118847] -synonym: "spinal muscular atrophy of childhood" RELATED [DOID:12376, MONDO:patterns/childhood] -synonym: "spinal muscular atrophy type 3" EXACT [NCIT:C118847] -synonym: "spinal muscular atrophy, familial" EXACT [DOID:12376] -synonym: "spinal muscular atrophy, mild childhood and adolescent form" RELATED [GARD:0000198, OMIM:253400] -synonym: "spinal muscular atrophy, type 3" RELATED [OMIM:253400] -synonym: "spinal muscular atrophy, type III" EXACT [OMIM:253400] -synonym: "spinal muscular atrophy, type III, modifier of" EXACT [OMIM:253400, OMIM:genemap2] -synonym: "spinal muscular atrophy-3" EXACT [OMIM:253400, OMIM:genemap2] +synonym: "spinal muscular atrophy of childhood" RELATED [MONDO:patterns/childhood] +synonym: "spinal muscular atrophy type 3" EXACT [DOID:12376, NCIT:C118847] +synonym: "spinal muscular atrophy, familial" EXACT [] +synonym: "spinal muscular atrophy, mild childhood and adolescent form" RELATED [GARD:0000198] +synonym: "spinal muscular atrophy, type 3" RELATED [] +synonym: "spinal muscular atrophy, type III" EXACT [] +synonym: "spinal muscular atrophy, type III, modifier of" EXACT [] +synonym: "spinal muscular atrophy-3" EXACT [] synonym: "type III spinal muscular atrophy" EXACT [DOID:12376] xref: DOID:12376 {source="MONDO:equivalentTo"} xref: GARD:198 {source="MONDO:GARD"} @@ -209590,25 +209622,25 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:83418"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chronic infantile spinal muscular atrophy" EXACT [Orphanet:83418] -synonym: "chronic spinal muscular atrophy" EXACT [Orphanet:83418] +synonym: "chronic infantile spinal muscular atrophy" EXACT [] +synonym: "chronic spinal muscular atrophy" EXACT [] synonym: "Dubowitz disease" RELATED [GARD:0004945] -synonym: "Intermediate spinal muscular atrophy" EXACT [Orphanet:83418] +synonym: "Intermediate spinal muscular atrophy" EXACT [DOID:0050530, Orphanet:83418] synonym: "muscular atrophy, spinal, infantile chronic form" EXACT [DOID:0050530, OMIM:253550] -synonym: "muscular atrophy, spinal, Intermediate type" RELATED [OMIM:253550] -synonym: "muscular atrophy, spinal, intermediate type" EXACT [DOID:0050530] -synonym: "proximal spinal muscular atrophy type 2" RELATED [Orphanet:83418] -synonym: "Sma 2" RELATED [OMIM:253550] +synonym: "muscular atrophy, spinal, Intermediate type" RELATED [] +synonym: "muscular atrophy, spinal, intermediate type" EXACT [DOID:0050530, OMIM:253550] +synonym: "proximal spinal muscular atrophy type 2" RELATED [] +synonym: "Sma 2" RELATED [] synonym: "SMA II" RELATED [GARD:0004945] synonym: "SMA type 2" EXACT [Orphanet:83418] synonym: "SMA type II" EXACT [Orphanet:83418] -synonym: "SMA-II" EXACT [Orphanet:83418] -synonym: "SMA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:253550, Orphanet:83418] +synonym: "SMA-II" EXACT ABBREVIATION [Orphanet:83418] +synonym: "SMA2" EXACT ABBREVIATION [DOID:0050530, MONDO:Lexical, OMIM:253550, Orphanet:83418] synonym: "spinal muscular atrophy type 2" RELATED [GARD:0004945] synonym: "spinal muscular atrophy type II" RELATED [GARD:0004945] -synonym: "spinal muscular atrophy, type 2" RELATED [OMIM:253550] -synonym: "spinal muscular atrophy, type II" EXACT [OMIM:253550] -synonym: "spinal muscular atrophy-2" EXACT [OMIM:253550, OMIM:genemap2] +synonym: "spinal muscular atrophy, type 2" RELATED [] +synonym: "spinal muscular atrophy, type II" EXACT [] +synonym: "spinal muscular atrophy-2" EXACT [] xref: DOID:0050530 {source="MONDO:equivalentTo"} xref: GARD:4945 {source="MONDO:GARD"} xref: ICD10CM:G12.1 {source="Orphanet:83418/inclusion", source="Orphanet:83418/ntbt", source="Orphanet:83418"} @@ -209648,21 +209680,21 @@ subset: orphanet_rare {source="Orphanet:267"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive limb-girdle muscular dystrophy type 2A" EXACT CLINGEN_LABEL [] +synonym: "autosomal recessive limb-girdle muscular dystrophy type 2A" EXACT CLINGEN_LABEL [DOID:0110275, Orphanet:267] synonym: "calpainopathy" EXACT [OMIM:253600] synonym: "CAPN3 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Leyden-Moebius muscular dystrophy" EXACT [DOID:0110275] +synonym: "Leyden-Moebius muscular dystrophy" EXACT [DOID:0110275, OMIM:253600] synonym: "LGMD2" RELATED ABBREVIATION [GARD:0001057] -synonym: "LGMD2A" EXACT ABBREVIATION [DOID:0110275, MONDO:Lexical, OMIM:253600, Orphanet:267] +synonym: "LGMD2A" EXACT ABBREVIATION [DOID:0110275, MONDO:Lexical, NCIT:C142079, Orphanet:267] synonym: "limb-girdle muscular dystrophy due to calpain deficiency" EXACT [DOID:0110275, Orphanet:267] synonym: "limb-girdle muscular dystrophy type 2" RELATED [GARD:0001057] -synonym: "limb-girdle muscular dystrophy type 2A" EXACT [NCIT:C142079] +synonym: "limb-girdle muscular dystrophy type 2A" EXACT [NCIT:C142079, Orphanet:267] synonym: "muscular dystrophy limb girdle type 2A, erb type" RELATED [GARD:0003845] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 1" EXACT [OMIM:253600, OMIM:genemap2] -synonym: "muscular dystrophy, limb-girdle, type 2" RELATED [OMIM:253600] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 1" EXACT [OMIM:253600] +synonym: "muscular dystrophy, limb-girdle, type 2" RELATED [] synonym: "muscular dystrophy, limb-girdle, type 2A" EXACT [DOID:0110275, MONDO:Lexical, OMIM:253600] -synonym: "muscular dystrophy, Pelvofemoral" RELATED [OMIM:253600] -synonym: "myositis, eosinophilic" RELATED [OMIM:253600] +synonym: "muscular dystrophy, Pelvofemoral" RELATED [] +synonym: "myositis, eosinophilic" RELATED [] synonym: "pelvofemoral muscular dystrophy" EXACT [DOID:0110275] synonym: "primary calpainopathy" EXACT [DOID:0110275, Orphanet:267] xref: DOID:0110275 {source="MONDO:equivalentTo"} @@ -209694,15 +209726,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF" EXACT [MONDO:design_pattern] synonym: "DYSF autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LGMD2B" EXACT ABBREVIATION [DOID:0110276, MONDO:Lexical, OMIM:253601, Orphanet:268] +synonym: "LGMD2B" EXACT ABBREVIATION [DOID:0110276, MONDO:Lexical, NCIT:C142080, Orphanet:268] synonym: "LGMD3" EXACT ABBREVIATION [DOID:0110276] synonym: "limb-girdle muscular dystrophy due to dysferlin deficiency" EXACT [DOID:0110276, Orphanet:268] -synonym: "limb-girdle muscular dystrophy type 2B" EXACT [NCIT:C142080] +synonym: "limb-girdle muscular dystrophy type 2B" EXACT [NCIT:C142080, Orphanet:268] synonym: "limb-girdle muscular dystrophy type 3" EXACT [DOID:0110276] synonym: "limb-girdle muscular dystrophy, type 2B" RELATED [GARD:0008574] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 2" EXACT [OMIM:253601, OMIM:genemap2] -synonym: "muscular dystrophy, limb-girdle, type 2B" RELATED [MONDO:Lexical, OMIM:253601] -synonym: "muscular dystrophy, limb-girdle, type 3" RELATED [OMIM:253601] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 2" EXACT [OMIM:253601] +synonym: "muscular dystrophy, limb-girdle, type 2B" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy, limb-girdle, type 3" RELATED [] xref: DOID:0110276 {source="MONDO:equivalentTo"} xref: GARD:8574 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:268", source="Orphanet:268/ntbt", source="Orphanet:268/inclusion", source="DOID:0110276"} @@ -209731,27 +209763,27 @@ subset: ordo_disorder {source="Orphanet:353"} subset: orphanet_rare {source="Orphanet:353"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Adhalin deficiency, secondary" RELATED [OMIM:253700] +synonym: "Adhalin deficiency, secondary" RELATED [] synonym: "autosomal recessive Duchenne-like muscular dystrophy type 1" EXACT [DOID:0110277] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive limb-girdle muscular dystrophy type 2C" EXACT CLINGEN_LABEL [] +synonym: "autosomal recessive limb-girdle muscular dystrophy type 2C" EXACT CLINGEN_LABEL [DOID:0110277, Orphanet:353] synonym: "deficiency of sarcoglycan gamma" EXACT [DOID:0110277] -synonym: "Dmda" RELATED [OMIM:253700] +synonym: "Dmda" RELATED [] synonym: "DMDA1" EXACT ABBREVIATION [DOID:0110277] -synonym: "Duchenne-like muscular dystrophy, autosomal recessive, type 1" RELATED [OMIM:253700] +synonym: "Duchenne-like muscular dystrophy, autosomal recessive, type 1" RELATED [] synonym: "gamma-sarcoglycanopathy" EXACT [DOID:0110277, Orphanet:353] -synonym: "LGMD2C" EXACT ABBREVIATION [DOID:0110277, MONDO:Lexical, OMIM:253700, Orphanet:353] +synonym: "LGMD2C" EXACT ABBREVIATION [DOID:0110277, MONDO:Lexical, Orphanet:353] synonym: "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency" EXACT [DOID:0110277, Orphanet:353] synonym: "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency" RELATED [GARD:0002429] synonym: "limb-girdle muscular dystrophy, type 2C" RELATED [GARD:0002429] -synonym: "Maghrebian myopathy" EXACT [DOID:0110277] -synonym: "muscular dystrophy, Duchenne-like" RELATED [OMIM:253700] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 5" EXACT [OMIM:253700, OMIM:genemap2] +synonym: "Maghrebian myopathy" EXACT [DOID:0110277, OMIM:253700] +synonym: "muscular dystrophy, Duchenne-like" RELATED [] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 5" EXACT [OMIM:253700] synonym: "muscular dystrophy, limb-girdle, type 2C" EXACT [DOID:0110277, MONDO:Lexical, OMIM:253700] -synonym: "sarcoglycan, gamma, deficiency of" RELATED [OMIM:253700] +synonym: "sarcoglycan, gamma, deficiency of" RELATED [] synonym: "SCARMD" EXACT ABBREVIATION [DOID:0110277] synonym: "severe childhood autosomal recessive muscular dystrophy North African type" EXACT [DOID:0110277] -synonym: "severe childhood autosomal recessive muscular dystrophy, North African type" RELATED [OMIM:253700] +synonym: "severe childhood autosomal recessive muscular dystrophy, North African type" RELATED [] synonym: "SGCG autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110277 {source="MONDO:equivalentTo"} xref: GARD:2429 {source="MONDO:GARD"} @@ -209780,11 +209812,11 @@ subset: ordo_disorder {source="Orphanet:272"} subset: orphanet_rare {source="Orphanet:272"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital muscular dystrophy, Fukuyama type" RELATED [Orphanet:272] +synonym: "congenital muscular dystrophy, Fukuyama type" RELATED [] synonym: "FCMD" EXACT ABBREVIATION [Orphanet:272] -synonym: "Fukuyama congenital muscular dystrophy" EXACT [OMIM:253800, Orphanet:272] +synonym: "Fukuyama congenital muscular dystrophy" EXACT [DOID:0050559, OMIM:253800, Orphanet:272] synonym: "Fukuyama Type Congenital Muscular Dystrophy" EXACT [NORD:1169] -synonym: "MDDGA4" EXACT ABBREVIATION [OMIM:253800] +synonym: "MDDGA4" EXACT ABBREVIATION [NCIT:C126741, OMIM:253800] synonym: "muscle-eye-brain-FKTN related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4" EXACT [NCIT:C126741] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" EXACT [OMIM:253800] @@ -209816,8 +209848,8 @@ id: MONDO:0009679 name: arthrogryposis due to muscular dystrophy subset: gard_rare {source="GARD:779", source="MONDO:GARD"} subset: rare -synonym: "congenital muscular dystrophy producing arthrogryposis" EXACT [DOID:0110631] -synonym: "muscular dystrophy, congenital, producing arthrogryposis" RELATED [OMIM:253900] +synonym: "congenital muscular dystrophy producing arthrogryposis" EXACT [] +synonym: "muscular dystrophy, congenital, producing arthrogryposis" RELATED [] xref: DOID:0110631 {source="MONDO:equivalentObsolete"} xref: GARD:779 {source="MONDO:GARD"} xref: ICD10CM:M62.8 {source="Orphanet:1155/attributed", source="Orphanet:1155/ntbt", source="Orphanet:1155", source="DOID:0110631"} @@ -209844,7 +209876,7 @@ synonym: "Bassoe syndrome" EXACT [Orphanet:1875] synonym: "benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract" RELATED [GARD:0000835] synonym: "familial congenital muscular dystrophy with gonadal dysgenesis" RELATED [GARD:0003842] synonym: "muscular dystrophy, congenital, infantile with cataract and hypogonadism" RELATED [GARD:0003842] -synonym: "muscular dystrophy, congenital, with infantile cataract and hypogonadism" RELATED [OMIM:254000] +synonym: "muscular dystrophy, congenital, with infantile cataract and hypogonadism" RELATED [] xref: GARD:835 {source="MONDO:GARD"} xref: MEDGEN:376896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:254000 {source="MONDO:equivalentTo", source="Orphanet:1875", source="Orphanet:1875/e"} @@ -209859,13 +209891,13 @@ id: MONDO:0009681 name: Ullrich congenital muscular dystrophy 1A subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "muscular dystrophy, Scleroatonic" RELATED [OMIM:254090] -synonym: "UCMD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254090] -synonym: "Ullrich congenital muscular dystrophy" RELATED [OMIM:254090] -synonym: "Ullrich congenital muscular dystrophy 1" EXACT [MONDO:Lexical, OMIM:254090] -synonym: "Ullrich congenital muscular dystrophy type 1" BROAD [MONDORULE:1, OMIM:254090] -synonym: "Ullrich disease" RELATED [OMIM:254090] -synonym: "Ullrich Scleroatonic muscular dystrophy" RELATED [OMIM:254090] +synonym: "muscular dystrophy, Scleroatonic" RELATED [] +synonym: "UCMD1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Ullrich congenital muscular dystrophy" RELATED [] +synonym: "Ullrich congenital muscular dystrophy 1" EXACT [MONDO:Lexical] +synonym: "Ullrich congenital muscular dystrophy type 1" BROAD [MONDORULE:1] +synonym: "Ullrich disease" RELATED [] +synonym: "Ullrich Scleroatonic muscular dystrophy" RELATED [] xref: DOID:0060946 {source="MONDO:equivalentTo"} xref: MEDGEN:98046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:1200215 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -209901,17 +209933,17 @@ subset: orphanet_rare {source="Orphanet:1878"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive limb-girdle muscular dystrophy type 2H" EXACT CLINGEN_LABEL [] -synonym: "LGMD2H" EXACT ABBREVIATION [DOID:0110282, MONDO:Lexical, OMIM:254110, Orphanet:1878] +synonym: "autosomal recessive limb-girdle muscular dystrophy type 2H" EXACT CLINGEN_LABEL [DOID:0110282, Orphanet:1878] +synonym: "LGMD2H" EXACT ABBREVIATION [DOID:0110282, MONDO:Lexical, Orphanet:1878] synonym: "limb-girdle muscular dystrophy due to TRIM32 deficiency" EXACT [DOID:0110282, Orphanet:1878] synonym: "limb-girdle muscular dystrophy type 2H" RELATED [GARD:0003844] synonym: "muscular dystrophy Hutterite type" EXACT [DOID:0110282] synonym: "muscular dystrophy limb-girdle type 2H" RELATED [GARD:0003844] -synonym: "muscular dystrophy, Hutterite type" RELATED [OMIM:254110] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 8" EXACT [OMIM:254110, OMIM:genemap2] -synonym: "muscular dystrophy, limb-girdle, type 2H" RELATED [MONDO:Lexical, OMIM:254110] -synonym: "Sarcotubular myopathy" EXACT [Orphanet:1878] -synonym: "sarcotubular myopathy" EXACT [DOID:0110282] +synonym: "muscular dystrophy, Hutterite type" RELATED [] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 8" EXACT [OMIM:254110] +synonym: "muscular dystrophy, limb-girdle, type 2H" RELATED [MONDO:Lexical] +synonym: "Sarcotubular myopathy" EXACT [DOID:0110282, OMIM:254110, Orphanet:1878] +synonym: "sarcotubular myopathy" EXACT [DOID:0110282, OMIM:254110, Orphanet:1878] synonym: "TRIM32 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110282 {source="MONDO:equivalentTo"} xref: GARD:3844 {source="MONDO:GARD"} @@ -209952,11 +209984,11 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "Miyoshi distal myopathy" EXACT [GARD:0009676] -synonym: "Miyoshi muscular dystrophy" EXACT [DOID:0070198] -synonym: "Miyoshi muscular dystrophy 1" NARROW [MONDO:Lexical, OMIM:254130] -synonym: "Miyoshi muscular dystrophy type 1" NARROW [MONDORULE:1, OMIM:254130] +synonym: "Miyoshi muscular dystrophy" EXACT [DOID:0070198, OMIMPS:254130] +synonym: "Miyoshi muscular dystrophy 1" NARROW [MONDO:Lexical] +synonym: "Miyoshi muscular dystrophy type 1" NARROW [MONDORULE:1] synonym: "MM" EXACT ABBREVIATION [GARD:0009676] -synonym: "MMD1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:254130] +synonym: "MMD1" NARROW ABBREVIATION [MONDO:Lexical] synonym: "muscular dystrophy, distal, late onset, autosomal recessive" RELATED [GARD:0009676] xref: DOID:0070198 {source="MONDO:equivalentTo"} xref: GARD:9676 {source="MONDO:GARD"} @@ -210010,8 +210042,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acquired myasthenia" EXACT [Orphanet:589] synonym: "autoimmune myasthenia gravis" EXACT [Orphanet:589] -synonym: "MG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254200] -synonym: "myasthenia gravis" EXACT [MONDO:Lexical, NCIT:C60989, OMIM:254200] +synonym: "MG" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myasthenia gravis" EXACT [DOID:437, ICD10CM:G70.0, icd11.foundation:1270100227, MONDO:Lexical, NCIT:C60989, OMIM:254200, Orphanet:589] xref: DOID:437 {source="EFO:0004991", source="MONDO:equivalentTo"} xref: EFO:0004991 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7122 {source="MONDO:GARD"} @@ -210047,25 +210079,25 @@ subset: gard_rare {source="GARD:9689", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CHAT congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "CMS Ia2" EXACT [DOID:0110671] -synonym: "Cms Ia2" RELATED [OMIM:254210] +synonym: "CMS Ia2" EXACT ABBREVIATION [DOID:0110671] +synonym: "Cms Ia2" RELATED [] synonym: "CMS Ia2, formerly" RELATED [MESH:C535759] -synonym: "Cms Ia2, formerly" RELATED [OMIM:254210] +synonym: "Cms Ia2, formerly" RELATED [] synonym: "CMS w/episodic apnea" RELATED [GARD:0009689] synonym: "CMS-ea" RELATED [GARD:0009689] synonym: "CMS1A" RELATED ABBREVIATION [GARD:0009689] synonym: "CMS1A2" EXACT ABBREVIATION [DOID:0110671] synonym: "CMS1A2, formerly" RELATED [MESH:C535759] -synonym: "CMS6" EXACT ABBREVIATION [DOID:0110671] +synonym: "CMS6" EXACT ABBREVIATION [DOID:0110671, NCIT:C132292, OMIM:254210] synonym: "CMSEA" EXACT ABBREVIATION [DOID:0110671] -synonym: "congenital myasthenic syndrome 6" EXACT CLINGEN_LABEL [] +synonym: "congenital myasthenic syndrome 6" EXACT CLINGEN_LABEL [DOID:0110671] synonym: "congenital myasthenic syndrome 6, presynaptic" EXACT [DOID:0110671] synonym: "congenital myasthenic syndrome caused by mutation in CHAT" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 1a" RELATED [GARD:0009689, MESH:C535759] -synonym: "congenital myasthenic syndrome type 6" EXACT [DOID:0110671, MONDORULE:1] +synonym: "congenital myasthenic syndrome type 6" EXACT [MONDORULE:1] synonym: "congenital myasthenic syndrome type Ia" RELATED [MESH:C535759] -synonym: "congenital myasthenic syndrome type Ia2" EXACT [DOID:0110671, OMIM:254210] -synonym: "congenital myasthenic syndrome type Ia2, formerly" RELATED [MESH:C535759, OMIM:254210] +synonym: "congenital myasthenic syndrome type Ia2" EXACT [DOID:0110671] +synonym: "congenital myasthenic syndrome type Ia2, formerly" RELATED [MESH:C535759] synonym: "congenital myasthenic syndrome with episodic apnea" RELATED [GARD:0009689] synonym: "congenital presynaptic myasthenic syndrome associated with episodic apnea" EXACT [DOID:0110671] synonym: "familial infantile myasthenia" EXACT [DOID:0110671] @@ -210077,14 +210109,14 @@ synonym: "FIMG2 (formerly)" RELATED [GARD:0009689] synonym: "FIMG2, formerly" RELATED [MESH:C535759] synonym: "myasthenia familial infantile" RELATED [GARD:0009689, MESH:C535759] synonym: "myasthenia gravis familial infantile 2 (formerly)" RELATED [GARD:0009689] -synonym: "myasthenia gravis, familial infantile, 2" RELATED [OMIM:254210] -synonym: "myasthenia gravis, familial infantile, 2, formerly" RELATED [MESH:C535759, OMIM:254210] -synonym: "myasthenia, familial infantile" RELATED [MESH:C535759, OMIM:254210] -synonym: "myasthenia, familial infantile, formerly" RELATED [MESH:C535759, OMIM:254210] +synonym: "myasthenia gravis, familial infantile, 2" RELATED [] +synonym: "myasthenia gravis, familial infantile, 2, formerly" RELATED [MESH:C535759] +synonym: "myasthenia, familial infantile" RELATED [MESH:C535759] +synonym: "myasthenia, familial infantile, formerly" RELATED [MESH:C535759] synonym: "myasthenic syndrome congenital associated with episodic apnea" RELATED [GARD:0009689, MESH:C535759] -synonym: "myasthenic syndrome, congenital, 6, presynaptic" RELATED [MESH:C535759, MONDO:Lexical, OMIM:254210] +synonym: "myasthenic syndrome, congenital, 6, presynaptic" RELATED [MESH:C535759, MONDO:Lexical] synonym: "myasthenic syndrome, congenital, associated with episodic apnea" RELATED [MESH:C535759] -synonym: "myasthenic syndrome, presynaptic, congenital, associated with episodic apnea" RELATED [GARD:0009689, MESH:C535759, OMIM:254210] +synonym: "myasthenic syndrome, presynaptic, congenital, associated with episodic apnea" RELATED [GARD:0009689, MESH:C535759] synonym: "presynaptic congenital myasthenic syndrome 6" EXACT [NCIT:C132292] xref: DOID:0110671 {source="MONDO:equivalentTo"} xref: GARD:9689 {source="MONDO:GARD"} @@ -210114,27 +210146,27 @@ def: "Any congenital myasthenic syndrome in which the cause of the disease is a subset: gard_rare {source="GARD:15206", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS Ib" RELATED [DOID:0110668] -synonym: "Cms Ib" RELATED [OMIM:254300] -synonym: "Cms Ib, formerly" RELATED [OMIM:254300] +synonym: "CMS Ib" RELATED [] +synonym: "Cms Ib" RELATED [] +synonym: "Cms Ib, formerly" RELATED [] synonym: "CMS10" EXACT ABBREVIATION [DOID:0110668, MONDO:Lexical, OMIM:254300] -synonym: "CMS1B" RELATED ABBREVIATION [DOID:0110668] -synonym: "congenital muscular dystrophy merosin-positive" EXACT [MONDO:0012279] -synonym: "congenital myasthenic syndrome 10" EXACT CLINGEN_LABEL [] +synonym: "CMS1B" RELATED ABBREVIATION [] +synonym: "congenital muscular dystrophy merosin-positive" EXACT [DOID:0110668, MONDO:0012279] +synonym: "congenital myasthenic syndrome 10" EXACT CLINGEN_LABEL [DOID:0110668] synonym: "congenital myasthenic syndrome caused by mutation in DOK7" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 10" EXACT [DOID:0110668, MONDORULE:2] -synonym: "congenital myasthenic syndrome type IB" RELATED [DOID:0110668, OMIM:254300] -synonym: "congenital myasthenic syndrome type IB, formerly" RELATED [OMIM:254300] +synonym: "congenital myasthenic syndrome type 10" EXACT [MONDORULE:2] +synonym: "congenital myasthenic syndrome type IB" RELATED [] +synonym: "congenital myasthenic syndrome type IB, formerly" RELATED [] synonym: "DOK7 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial limb-girdle myasthenia" EXACT [DOID:0110668] synonym: "LGM" EXACT ABBREVIATION [DOID:0110668] -synonym: "muscular dystrophy, congenital, merosin-POSITIVE" RELATED [OMIM:609456] -synonym: "myasthenia, limb-girdle, familial" RELATED [OMIM:254300] -synonym: "myasthenia, limb-girdle, familial, formerly" RELATED [OMIM:254300] -synonym: "myasthenic myopathy" RELATED [OMIM:254300] -synonym: "myasthenic myopathy, formerly" RELATED [OMIM:254300] -synonym: "myasthenic syndrome, congenital, 10" RELATED [MONDO:Lexical, OMIM:254300] -synonym: "myasthenic syndrome, congenital, type 10" EXACT [MONDORULE:2, OMIM:254300] +synonym: "muscular dystrophy, congenital, merosin-POSITIVE" RELATED [] +synonym: "myasthenia, limb-girdle, familial" RELATED [] +synonym: "myasthenia, limb-girdle, familial, formerly" RELATED [] +synonym: "myasthenic myopathy" RELATED [] +synonym: "myasthenic myopathy, formerly" RELATED [] +synonym: "myasthenic syndrome, congenital, 10" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, type 10" EXACT [MONDORULE:2] xref: DOID:0110638 {source="MONDO:equivalentObsolete"} xref: DOID:0110668 {source="MONDO:equivalentTo"} xref: GARD:15206 {source="MONDO:GARD"} @@ -210169,18 +210201,18 @@ subset: orphanet_rare {source="Orphanet:2584"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Alibert-Bazin syndrome" RELATED [GARD:0003863] -synonym: "classic mycosis fungoides" RELATED [Orphanet:2584] -synonym: "CTCL/ mycosis fungoides" EXACT [NCIT:C3246] -synonym: "cutaneous T-cell lymphoma/mycosis fungoides" EXACT [NCIT:C3246] +synonym: "classic mycosis fungoides" RELATED [] +synonym: "CTCL/ mycosis fungoides" EXACT [] +synonym: "cutaneous T-cell lymphoma/mycosis fungoides" EXACT [] synonym: "granuloma fungoides" RELATED [GARD:0003863] -synonym: "MF" EXACT ABBREVIATION [DOID:8691, NCIT:C3246] -synonym: "mycosis fungoides" EXACT [DOID:8691, MTH:U002093, OMIM:254400] -synonym: "mycosis fungoides (morphologic abnormality)" EXACT [DOID:8691] +synonym: "MF" EXACT ABBREVIATION [NCIT:C3246] +synonym: "mycosis fungoides" EXACT [DOID:8691, ICD10CM:C84.0, icd11.foundation:901411509, MTH:U002093, NCIT:C3246, OMIM:254400] +synonym: "mycosis fungoides (morphologic abnormality)" EXACT [] synonym: "mycosis fungoides lymphoma" EXACT [DOID:8691] -synonym: "mycosis fungoides NOS (morphologic abnormality)" EXACT [DOID:8691] -synonym: "mycosis fungoides of unspecified site" EXACT [DOID:8691] +synonym: "mycosis fungoides NOS (morphologic abnormality)" EXACT [] +synonym: "mycosis fungoides of unspecified site" EXACT [] synonym: "mycosis fungoides, Alibert-Bazin type" EXACT [Orphanet:2584] -synonym: "mycosis fungoides, unspecified site, extranodal and solid organ sites" EXACT [DOID:8691] +synonym: "mycosis fungoides, unspecified site, extranodal and solid organ sites" EXACT [] xref: DOID:8691 {source="MONDO:equivalentTo", source="EFO:1001051"} xref: EFO:1001051 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:3863 {source="MONDO:GARD"} @@ -210218,24 +210250,24 @@ subset: ordo_disorder {source="Orphanet:824"} subset: orphanet_rare {source="Orphanet:824"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Agnogenic myeloid metaplasia" EXACT [DOID:4971, Orphanet:824] +synonym: "Agnogenic myeloid metaplasia" EXACT [DOID:4971, NCIT:C2862, Orphanet:824] synonym: "aleukemic myelosis" EXACT [DOID:4971] synonym: "AMM" EXACT ABBREVIATION [NCIT:C2862] -synonym: "bone marrow fibrosis" EXACT [DOID:4971, NCIT:C36212] -synonym: "chronic idiopathic myelofibrosis" EXACT [NCIT:C2862] -synonym: "CIMF" EXACT ABBREVIATION [NCIT:C2862] +synonym: "bone marrow fibrosis" EXACT [DOID:4971] +synonym: "chronic idiopathic myelofibrosis" EXACT [icd11.foundation:336704235] +synonym: "CIMF" EXACT ABBREVIATION [] synonym: "idiopathic bone marrow fibrosis" EXACT [NCIT:C2862] -synonym: "idiopathic myelofibrosis" EXACT [Orphanet:824] +synonym: "idiopathic myelofibrosis" EXACT [NCIT:C2862, Orphanet:824] synonym: "megakaryocytic myelosclerosis" EXACT [DOID:4971] -synonym: "myelofibrosis" RELATED [OMIM:254450] -synonym: "myelofibrosis with myeloid metaplasia" NARROW [OMIM:254450, Orphanet:824] -synonym: "myelofibrosis with myeloid metaplasia, somatic" EXACT [OMIM:254450, OMIM:genemap2] -synonym: "myelofibrosis, somatic" EXACT [OMIM:254450, OMIM:genemap2] +synonym: "myelofibrosis" RELATED [] +synonym: "myelofibrosis with myeloid metaplasia" NARROW [] +synonym: "myelofibrosis with myeloid metaplasia, somatic" EXACT [] +synonym: "myelofibrosis, somatic" EXACT [] synonym: "myeloid metaplasia" RELATED [GARD:0008618] synonym: "myelosclerosis" EXACT [DOID:4971] synonym: "myelosclerosis with myeloid metaplasia" EXACT [NCIT:C2862] synonym: "osteomyelofibrosis" EXACT [Orphanet:824] -synonym: "primary myelofibrosis" EXACT [DOID:4971] +synonym: "primary myelofibrosis" EXACT [DOID:4971, icd11.foundation:336704235, NCIT:C2862, Orphanet:824] xref: DOID:4971 {source="MONDO:equivalentTo"} xref: EFO:0002430 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:8618 {source="MONDO:GARD"} @@ -210277,25 +210309,25 @@ subset: ordo_disorder {source="Orphanet:29073"} subset: orphanet_rare {source="Orphanet:29073"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Al amyloidosis" RELATED [OMIM:254500] -synonym: "amyloidosis, systemic" RELATED [OMIM:254500] -synonym: "Kahler disease" EXACT [NCIT:C3242] -synonym: "Kahler's disease" EXACT [Orphanet:29073] -synonym: "medullary plasmacytoma" EXACT [Orphanet:29073] -synonym: "Multiple Myeloma" EXACT [NORD:1469] -synonym: "multiple myeloma" EXACT [NCIT:C3242] -synonym: "multiple myeloma, resistance to, Somatic mutation" EXACT [OMIM:254500, OMIM:genemap2] -synonym: "multiple myeloma, susceptibility to, Somatic mutation" EXACT [OMIM:254500, OMIM:genemap2] +synonym: "Al amyloidosis" RELATED [] +synonym: "amyloidosis, systemic" RELATED [] +synonym: "Kahler disease" EXACT [icd11.foundation:526287100, Orphanet:29073] +synonym: "Kahler's disease" EXACT [ICD10CM:C90.0] +synonym: "medullary plasmacytoma" EXACT [ICD10CM:C90.0, icd11.foundation:526287100, Orphanet:29073] +synonym: "Multiple Myeloma" EXACT [DOID:9538, ICD10CM:C90.0, icd11.foundation:526287100, NCIT:C3242, NORD:1469, Orphanet:29073] +synonym: "multiple myeloma" EXACT [DOID:9538, ICD10CM:C90.0, icd11.foundation:526287100, NCIT:C3242, Orphanet:29073] +synonym: "multiple myeloma, resistance to, Somatic mutation" EXACT [] +synonym: "multiple myeloma, susceptibility to, Somatic mutation" EXACT [] synonym: "multiple myeloma/plasma cell myeloma" EXACT [NCIT:C3242] synonym: "myeloid neoplasm of plasma cell" EXACT [MONDO:design_pattern] -synonym: "myeloma" EXACT [NCIT:C3242] +synonym: "myeloma" EXACT [DOID:9538, icd11.foundation:526287100, NCIT:C3242] synonym: "myeloma - multiple" RELATED [GARD:0007108] synonym: "myeloma, multiple" EXACT [OMIM:254500] -synonym: "myeloma, NOS" RELATED EXCLUDE [NCIT:C3242] +synonym: "myeloma, NOS" RELATED EXCLUDE [] synonym: "myeloma, plasma cell, malignant" EXACT [NCIT:C3242] -synonym: "myelomatosis" EXACT [NCIT:C3242, Orphanet:29073] +synonym: "myelomatosis" EXACT [ICD10CM:C90.0, icd11.foundation:526287100, NCIT:C3242, Orphanet:29073] synonym: "plasma cell myeloid neoplasm" EXACT [MONDO:patterns/location] -synonym: "plasma cell myeloma" EXACT [DOID:9538, NCIT:C3242, Orphanet:29073] +synonym: "plasma cell myeloma" EXACT [ICD10CM:C90.0, icd11.foundation:526287100, NCIT:C3242, Orphanet:29073] xref: DOID:9538 {source="MONDO:equivalentTo", source="EFO:0001378"} xref: EFO:0001378 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7108 {source="MONDO:GARD"} @@ -210339,8 +210371,8 @@ subset: orphanet_rare {source="Orphanet:2587"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MPO deficiency" EXACT [OMIM:254600, Orphanet:2587] -synonym: "MPOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:254600] -synonym: "myeloperoxidase deficiency" EXACT [MONDO:Lexical, OMIM:254600] +synonym: "MPOD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myeloperoxidase deficiency" EXACT [icd11.foundation:1933575033, MONDO:Lexical, OMIM:254600, Orphanet:2587] xref: GARD:3868 {source="MONDO:GARD"} xref: ICD10CM:E80.3 {source="Orphanet:2587/attributed", source="Orphanet:2587/ntbt", source="Orphanet:2587"} xref: icd11.foundation:1933575033 {source="MONDO:equivalentTo"} @@ -210382,14 +210414,14 @@ subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare synonym: "EJM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:254770] -synonym: "epilepsy, myoclonic juvenile" EXACT [MONDO:Lexical, OMIM:254770] -synonym: "Janz syndrome" NARROW [DOID:4890, OMIM:254770] +synonym: "epilepsy, myoclonic juvenile" EXACT [MONDO:Lexical, OMIM:254770, OMIMPS:254770] +synonym: "Janz syndrome" NARROW [DOID:4890] synonym: "JME" EXACT ABBREVIATION [Orphanet:307] synonym: "juvenile myoclonus epilepsy" EXACT [Orphanet:307] synonym: "myoclonic epilepsy, juvenile" EXACT [OMIM:254770] synonym: "myoclonic epilepsy, juvenile, 1" EXACT [GARD:0006808] -synonym: "myoclonic epilepsy, juvenile, susceptibility to, 1" NARROW [OMIM:254770] -synonym: "petit mal, impulsive" NARROW [OMIM:254770] +synonym: "myoclonic epilepsy, juvenile, susceptibility to, 1" NARROW [] +synonym: "petit mal, impulsive" NARROW [] xref: DOID:4890 {source="MONDO:equivalentTo"} xref: GARD:6808 {source="MONDO:GARD"} xref: ICD10CM:G40.3 {source="Orphanet:307", source="Orphanet:307/attributed", source="Orphanet:307/ntbt"} @@ -210431,19 +210463,19 @@ subset: orphanet_rare {source="Orphanet:501"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "epilepsy progressive myoclonic 2" RELATED [GARD:0008214] -synonym: "epilepsy, progressive myoclonic 2A (Lafora)" EXACT [OMIM:254780, OMIM:genemap2] -synonym: "epilepsy, progressive myoclonic 2B (Lafora)" EXACT [OMIM:254780, OMIM:genemap2] -synonym: "epilepsy, progressive myoclonic, 2A" RELATED [OMIM:254780] -synonym: "epilepsy, progressive myoclonic, 2B" RELATED [OMIM:254780] +synonym: "epilepsy, progressive myoclonic 2A (Lafora)" EXACT [] +synonym: "epilepsy, progressive myoclonic 2B (Lafora)" EXACT [] +synonym: "epilepsy, progressive myoclonic, 2A" RELATED [] +synonym: "epilepsy, progressive myoclonic, 2B" RELATED [] synonym: "EPM2" EXACT ABBREVIATION [Orphanet:501] -synonym: "Epm2" RELATED [OMIM:254780] -synonym: "Lafora body disease" RELATED [OMIM:254780] +synonym: "Epm2" RELATED [] +synonym: "Lafora body disease" RELATED [] synonym: "Lafora body disorder" RELATED [GARD:0008214] -synonym: "Lafora disease" EXACT CLINGEN_LABEL [OMIM:254780] +synonym: "Lafora disease" EXACT CLINGEN_LABEL [DOID:3534, NCIT:C84804, Orphanet:501] synonym: "Lafora progressive myoclonic epilepsy" EXACT [DOID:3534] synonym: "Lafora's disease" EXACT [DOID:3534] -synonym: "Melf" RELATED [OMIM:254780] -synonym: "myoclonic epilepsy of Lafora" EXACT [DOID:3534, OMIM:254780] +synonym: "Melf" RELATED [] +synonym: "myoclonic epilepsy of Lafora" EXACT [DOID:3534, OMIMPS:254780] synonym: "PME type 2" EXACT [Orphanet:501] synonym: "progressive myoclonic epilepsy type 2" EXACT [Orphanet:501] synonym: "progressive myoclonus epilepsy type 2" EXACT [Orphanet:501] @@ -210483,26 +210515,26 @@ subset: ordo_malformation_syndrome {source="Orphanet:308"} subset: orphanet_rare {source="Orphanet:308"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Baltic myoclonic epilepsy" RELATED [OMIM:254800] -synonym: "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)" EXACT [OMIM:254800, OMIM:genemap2] +synonym: "Baltic myoclonic epilepsy" RELATED [] +synonym: "epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)" EXACT [] synonym: "epilepsy, progressive myoclonic type 1" RELATED [GARD:0003876] -synonym: "epilepsy, progressive myoclonic, 1" RELATED [OMIM:254800] -synonym: "epilepsy, progressive myoclonic, 1A" RELATED [OMIM:254800] +synonym: "epilepsy, progressive myoclonic, 1" RELATED [] +synonym: "epilepsy, progressive myoclonic, 1A" RELATED [] synonym: "epilepsy, progressive myoclonus 1" RELATED [GARD:0003876] synonym: "EPM1" RELATED ABBREVIATION [GARD:0003876] -synonym: "myoclonic epilepsy of Unverricht and Lundborg" RELATED [OMIM:254800] +synonym: "myoclonic epilepsy of Unverricht and Lundborg" RELATED [] synonym: "myoclonus progressive epilepsy of Unverricht and Lundborg" RELATED [GARD:0003876] -synonym: "PME type 1" EXACT [Orphanet:308] -synonym: "progressive myoclonic epilepsy" RELATED [OMIM:254800] +synonym: "PME type 1" EXACT [] +synonym: "progressive myoclonic epilepsy" RELATED [] synonym: "progressive myoclonic epilepsy type 1" EXACT [Orphanet:308] synonym: "progressive myoclonus epilepsy Baltic myoclonic epilepsy" RELATED [GARD:0003876] synonym: "progressive myoclonus epilepsy type 1" EXACT [Orphanet:308] -synonym: "ULD" EXACT ABBREVIATION [Orphanet:308] -synonym: "Uld" RELATED [OMIM:254800] +synonym: "ULD" EXACT ABBREVIATION [OMIM:254800, Orphanet:308] +synonym: "Uld" RELATED [] synonym: "Unverricht - Lundborg disease" EXACT [DOID:3535] synonym: "Unverricht's disease" EXACT [DOID:3535] -synonym: "Unverricht-Lundborg disease" EXACT [DOID:3535] -synonym: "Unverricht-Lundborg syndrome" EXACT CLINGEN_LABEL [] +synonym: "Unverricht-Lundborg disease" EXACT [DOID:3535, Orphanet:308] +synonym: "Unverricht-Lundborg syndrome" EXACT CLINGEN_LABEL [DOID:3535] xref: DOID:0111452 {source="MONDO:equivalentTo"} xref: DOID:3535 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:3876 {source="MONDO:GARD"} @@ -210537,12 +210569,12 @@ subset: ordo_disorder {source="Orphanet:163696"} subset: orphanet_rare {source="Orphanet:163696"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "action myoclonus-renal failure syndrome" EXACT [OMIM:254900] -synonym: "AMRF" EXACT ABBREVIATION [Orphanet:163696] -synonym: "epilepsy, progressive myoclonic 4, with or without renal failure" EXACT [OMIM:254900, OMIM:genemap2] +synonym: "action myoclonus-renal failure syndrome" EXACT [DOID:0111444, OMIM:254900, Orphanet:163696] +synonym: "AMRF" EXACT ABBREVIATION [DOID:0111444, Orphanet:163696] +synonym: "epilepsy, progressive myoclonic 4, with or without renal failure" EXACT [] synonym: "epilepsy, progressive myoclonic, 4, with or without renal failure" EXACT [MONDO:Lexical, OMIM:254900] -synonym: "EPM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:254900, Orphanet:163696] -synonym: "myoclonus-nephropathy syndrome" EXACT [OMIM:254900, Orphanet:163696] +synonym: "EPM4" EXACT ABBREVIATION [DOID:0111444, MONDO:Lexical, OMIM:254900, Orphanet:163696] +synonym: "myoclonus-nephropathy syndrome" EXACT [DOID:0111444, OMIM:254900, Orphanet:163696] synonym: "progressive myoclonic epilepsy type 4" EXACT [Orphanet:163696] xref: DOID:0111444 {source="MONDO:equivalentTo"} xref: GARD:17000 {source="MONDO:GARD"} @@ -210592,11 +210624,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lipid storage myopathy" RELATED [OMIM:255100] -synonym: "LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency" RELATED [OMIM:255100] -synonym: "lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" RELATED [OMIM:255100] -synonym: "LSMFLAD" RELATED ABBREVIATION [OMIM:255100] -synonym: "myopathy with abnormal lipid metabolism" EXACT CLINGEN_LABEL [OMIM:255100] +synonym: "lipid storage myopathy" RELATED [] +synonym: "LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency" RELATED [] +synonym: "lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" RELATED [] +synonym: "LSMFLAD" RELATED ABBREVIATION [] +synonym: "myopathy with abnormal lipid metabolism" EXACT CLINGEN_LABEL [] xref: MEDGEN:934789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562935 {source="MONDO:equivalentTo"} xref: OMIM:255100 {source="MONDO:equivalentTo"} @@ -210618,15 +210650,15 @@ subset: rare synonym: "Carnitine palmitoyl transferase deficiency type 2, adult-onset form" EXACT [Orphanet:228302] synonym: "Carnitine palmitoyl transferase deficiency type 2, myopathic form" EXACT [Orphanet:228302] synonym: "Carnitine palmitoyl transferase II deficiency, adult-onset form" EXACT [Orphanet:228302] -synonym: "carnitine palmitoyl transferase II deficiency, myopathic form" EXACT CLINGEN_LABEL [] -synonym: "Carnitine Palmitoyltransferase 2 deficiency, adult-onset" RELATED [OMIM:255110] -synonym: "Carnitine Palmitoyltransferase 2 deficiency, myopathic" RELATED [OMIM:255110] -synonym: "Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced" RELATED [OMIM:255110] -synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset" RELATED [OMIM:255110] -synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced" RELATED [OMIM:255110] -synonym: "CPT 2 deficiency, myopathic" RELATED [OMIM:255110] -synonym: "CPT II deficiency, myopathic, stress-induced" EXACT [OMIM:255110, OMIM:genemap2] -synonym: "Cpt2 deficiency, late-onset" RELATED [OMIM:255110] +synonym: "carnitine palmitoyl transferase II deficiency, myopathic form" EXACT CLINGEN_LABEL [Orphanet:228302] +synonym: "Carnitine Palmitoyltransferase 2 deficiency, adult-onset" RELATED [] +synonym: "Carnitine Palmitoyltransferase 2 deficiency, myopathic" RELATED [] +synonym: "Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced" RELATED [] +synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset" RELATED [] +synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced" RELATED [] +synonym: "CPT 2 deficiency, myopathic" RELATED [] +synonym: "CPT II deficiency, myopathic, stress-induced" EXACT [] +synonym: "Cpt2 deficiency, late-onset" RELATED [] synonym: "CPT2, adult-onset form" EXACT [Orphanet:228302] synonym: "CPT2, myopathic form" EXACT [Orphanet:228302] synonym: "CPTII, adult-onset form" EXACT [Orphanet:228302] @@ -210656,17 +210688,17 @@ subset: orphanet_rare {source="Orphanet:156"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Carnitine palmitoyl transferase 1 deficiency" RELATED [GARD:0001120] -synonym: "carnitine palmitoyl transferase 1A deficiency" EXACT CLINGEN_LABEL [DOID:0090129] -synonym: "Carnitine palmitoyl transferase IA deficiency" EXACT [Orphanet:156] -synonym: "carnitine palmitoyl transferase IA deficiency" EXACT [DOID:0090129] -synonym: "Carnitine Palmitoyltransferase 1 deficiency" RELATED [OMIM:255120] -synonym: "Carnitine Palmitoyltransferase 1A Deficiency" EXACT [NORD:894] -synonym: "Carnitine Palmitoyltransferase 1A deficiency" RELATED [OMIM:255120] +synonym: "carnitine palmitoyl transferase 1A deficiency" EXACT CLINGEN_LABEL [DOID:0090129, Orphanet:156] +synonym: "Carnitine palmitoyl transferase IA deficiency" EXACT [DOID:0090129, Orphanet:156] +synonym: "carnitine palmitoyl transferase IA deficiency" EXACT [DOID:0090129, Orphanet:156] +synonym: "Carnitine Palmitoyltransferase 1 deficiency" RELATED [] +synonym: "Carnitine Palmitoyltransferase 1A Deficiency" EXACT [NORD:894, OMIM:255120] +synonym: "Carnitine Palmitoyltransferase 1A deficiency" RELATED [] synonym: "Carnitine palmitoyltransferase 1A deficiency" RELATED [GARD:0001120] -synonym: "carnitine palmitoyltransferase I deficiency" EXACT [OMIM:255120] -synonym: "CPT 1 deficiency" RELATED [OMIM:255120] -synonym: "CPT deficiency, hepatic, type 1" RELATED [OMIM:255120] -synonym: "cpt deficiency, hepatic, type IA" EXACT [OMIM:255120, OMIM:genemap2] +synonym: "carnitine palmitoyltransferase I deficiency" EXACT [DOID:0090129, NCIT:C98871] +synonym: "CPT 1 deficiency" RELATED [] +synonym: "CPT deficiency, hepatic, type 1" RELATED [] +synonym: "cpt deficiency, hepatic, type IA" EXACT [] synonym: "CPT I deficiency" EXACT [DOID:0090129] synonym: "CPT1A deficiency" EXACT [DOID:0090129, Orphanet:156] synonym: "CPT1A disorder of carnitine cycle and carnitine transport" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -210714,13 +210746,13 @@ subset: orphanet_rare {source="Orphanet:43115"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aconitase deficiency" EXACT [Orphanet:43115] -synonym: "HML" RELATED ABBREVIATION [MONDO:Lexical, OMIM:255125] +synonym: "HML" RELATED ABBREVIATION [MONDO:Lexical] synonym: "iron-sulfur cluster deficiency myopathy" EXACT [Orphanet:43115] synonym: "ISCU myopathy" EXACT [Orphanet:43115] -synonym: "myoglobinuria due to abnormal glycolysis" RELATED [OMIM:255125] -synonym: "myopathy with deficiency of succinate dehydrogenase and aconitase" RELATED [OMIM:255125] +synonym: "myoglobinuria due to abnormal glycolysis" RELATED [] +synonym: "myopathy with deficiency of succinate dehydrogenase and aconitase" RELATED [] synonym: "myopathy with exercise intolerance, Swedish type" EXACT [OMIM:255125, Orphanet:43115] -synonym: "myopathy with lactic acidosis, hereditary" RELATED [MONDO:Lexical, OMIM:255125] +synonym: "myopathy with lactic acidosis, hereditary" RELATED [MONDO:Lexical] xref: GARD:16643 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:43115/attributed", source="Orphanet:43115/ntbt", source="Orphanet:43115"} xref: ICD9:259.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -210751,9 +210783,9 @@ subset: gard_rare {source="GARD:15207", source="MONDO:GARD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:636970"} subset: rare synonym: "autosomal recessive myosin storage myopathy" EXACT [Orphanet:636970] -synonym: "MSMB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:255160] -synonym: "myopathy, hyaline body, autosomal recessive" RELATED [OMIM:255160] -synonym: "myopathy, myosin storage, autosomal recessive" EXACT [MONDO:Lexical, OMIM:255160] +synonym: "MSMB" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myopathy, hyaline body, autosomal recessive" RELATED [] +synonym: "myopathy, myosin storage, autosomal recessive" EXACT [DOID:0111268, MONDO:Lexical, OMIM:255160] xref: DOID:0111268 {source="MONDO:equivalentTo"} xref: GARD:15207 {source="MONDO:GARD"} xref: MEDGEN:340603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -210774,13 +210806,13 @@ subset: gard_rare {source="GARD:15208", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BIN1 centronuclear myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "centronuclear myopathy 2" EXACT [OMIM:255200, OMIM:genemap2] +synonym: "centronuclear myopathy 2" EXACT [DOID:0111220] synonym: "centronuclear myopathy caused by mutation in BIN1" EXACT [MONDO:design_pattern] -synonym: "CNM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:255200] +synonym: "CNM2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "myopathy, centronuclear, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:255200] -synonym: "myopathy, centronuclear, autosomal recessive" RELATED [OMIM:255200] -synonym: "myopathy, centronuclear, type 2" EXACT [MONDORULE:1, OMIM:255200] -synonym: "myotubular myopathy, autosomal recessive" RELATED [OMIM:255200] +synonym: "myopathy, centronuclear, autosomal recessive" RELATED [] +synonym: "myopathy, centronuclear, type 2" EXACT [MONDORULE:1] +synonym: "myotubular myopathy, autosomal recessive" RELATED [] xref: DOID:0111220 {source="MONDO:equivalentTo"} xref: GARD:15208 {source="MONDO:GARD"} xref: MEDGEN:98049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -210805,9 +210837,9 @@ subset: ordo_disorder {source="Orphanet:614"} subset: orphanet_rare {source="Orphanet:614"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Batten-Turner congenital myopathy" RELATED [OMIM:255300] -synonym: "myopathy, congenital" RELATED [OMIM:255300] -synonym: "myotonia congenita" EXACT [Orphanet:614] +synonym: "Batten-Turner congenital myopathy" RELATED [] +synonym: "myopathy, congenital" RELATED [] +synonym: "myotonia congenita" EXACT [DOID:2106, ICD10CM:G71.12, NCIT:C84912, Orphanet:614] xref: DOID:2106 {source="MONDO:equivalentTo"} xref: GARD:12301 {source="MONDO:GARD"} xref: ICD10CM:G71.1 {source="Orphanet:614/ntbt", source="Orphanet:614/inclusion", source="Orphanet:614"} @@ -210837,7 +210869,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CFTDM" EXACT ABBREVIATION [Orphanet:2020] synonym: "congenital fiber type disproportion" RELATED [GARD:0006161] -synonym: "congenital fiber-type disproportion" EXACT [NCIT:C120046] +synonym: "congenital fiber-type disproportion" EXACT [DOID:0080102, NCIT:C120046] synonym: "congenital fibre type disproportion" RELATED OMO:0003005 [] synonym: "congenital myopathy with fiber type disproportion" EXACT [https://orcid.org/0000-0002-8169-9049, OMOP:4347282, SCTID:240084007] synonym: "congenital myopathy with fibre type disproportion" EXACT OMO:0003005 [] @@ -210875,13 +210907,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:98905"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "minicore myopathy" RELATED [OMIM:255320] -synonym: "minicore myopathy with external ophthalmoplegia" RELATED [OMIM:255320] -synonym: "minicore myopathy, antenatal onset, with arthrogryposis" EXACT [OMIM:255320] -synonym: "multicore myopathy" RELATED [OMIM:255320] +synonym: "minicore myopathy" RELATED [] +synonym: "minicore myopathy with external ophthalmoplegia" RELATED [] +synonym: "minicore myopathy, antenatal onset, with arthrogryposis" EXACT [] +synonym: "multicore myopathy" RELATED [] synonym: "multicore myopathy with external ophthalmoplegia" RELATED [GARD:0010316] -synonym: "multiminicore disease with external ophthalmoplegia" RELATED [OMIM:255320] -synonym: "multiminicore myopathy multicore myopathy with external ophthalmoplegia" RELATED [OMIM:255320] +synonym: "multiminicore disease with external ophthalmoplegia" RELATED [] +synonym: "multiminicore myopathy multicore myopathy with external ophthalmoplegia" RELATED [] xref: GARD:10316 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:98905", source="Orphanet:98905/attributed", source="Orphanet:98905/ntbt"} xref: MEDGEN:340597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -210922,12 +210954,12 @@ subset: ordo_disorder {source="Orphanet:289380"} subset: orphanet_rare {source="Orphanet:289380"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital myosclerosis, LC6wenthal type" EXACT [Orphanet:289380] +synonym: "congenital myosclerosis, LC6wenthal type" EXACT [] synonym: "congenital myosclerosis, Löwenthal type" EXACT [Orphanet:289380] -synonym: "myopathy, myosclerotic" RELATED [OMIM:255600] -synonym: "myosclerosis, autosomal recessive" RELATED [OMIM:255600] -synonym: "myosclerosis, congenital" EXACT [OMIM:255600, OMIM:genemap2] -synonym: "myosclerosis, congenital, of Lowenthal" RELATED [OMIM:255600] +synonym: "myopathy, myosclerotic" RELATED [] +synonym: "myosclerosis, autosomal recessive" RELATED [] +synonym: "myosclerosis, congenital" EXACT [] +synonym: "myosclerosis, congenital, of Lowenthal" RELATED [] xref: GARD:17325 {source="MONDO:GARD"} xref: ICD10CM:G71.8 {source="Orphanet:289380/attributed", source="Orphanet:289380/ntbt", source="Orphanet:289380"} xref: icd11.foundation:2105106550 {source="MONDO:equivalentTo"} @@ -210951,11 +210983,11 @@ def: "Autosomal recessive form of myotonia congenita." [MONDO:patterns/autosomal subset: gard_rare {source="GARD:844", source="MONDO:GARD"} subset: rare synonym: "autosomal recessive myotonia congenita" EXACT [MONDO:design_pattern] -synonym: "Becker disease" RELATED [OMIM:255700] +synonym: "Becker disease" RELATED [] synonym: "myotonia congenita, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:255700] -synonym: "myotonia congenita, recessive" EXACT [OMIM:255700, OMIM:genemap2] +synonym: "myotonia congenita, recessive" EXACT [] synonym: "myotonia, generalised" RELATED OMO:0003005 [] -synonym: "myotonia, generalized" RELATED [OMIM:255700] +synonym: "myotonia, generalized" RELATED [] xref: GARD:844 {source="MONDO:GARD"} xref: MEDGEN:155852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:1200499 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -210977,8 +211009,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:3101"} subset: orphanet_rare {source="Orphanet:3101"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "myotonia with skeletal abnormalities and intellectual disability" RELATED [OMIM:255710] -synonym: "myotonia with skeletal abnormalities and mental retardation" RELATED DEPRECATED [OMIM:255710] +synonym: "myotonia with skeletal abnormalities and intellectual disability" RELATED [] +synonym: "myotonia with skeletal abnormalities and mental retardation" RELATED DEPRECATED [] synonym: "myotonia-intellectual disability-skeletal anomalies syndrome" EXACT [Orphanet:3101] synonym: "Richieri Costa Da Silva syndrome" RELATED [GARD:0004709] xref: GARD:4709 {source="MONDO:GARD"} @@ -211007,19 +211039,19 @@ synonym: "Aberfeld syndrome" EXACT [Orphanet:800] synonym: "burton skeletal dysplasia" EXACT [Orphanet:800] synonym: "burton syndrome" EXACT [Orphanet:800] synonym: "Catel-Hempel syndrome" EXACT [Orphanet:800] -synonym: "Catel-Hempel type dysostosis enchondralis metaepiphysaria" EXACT [Orphanet:800] +synonym: "Catel-Hempel type dysostosis enchondralis metaepiphysaria" EXACT [] synonym: "dysostosis enchondralis metaepiphysaria, Catel-Hempel type" EXACT [Orphanet:800] -synonym: "myotonic chondrodystrophy" EXACT [DOID:0090005, Orphanet:800] +synonym: "myotonic chondrodystrophy" EXACT [NCIT:C35008, Orphanet:800] synonym: "myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities" RELATED [GARD:0000250] -synonym: "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities" RELATED [OMIM:255800] -synonym: "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" EXACT [DOID:0090005, Orphanet:800] +synonym: "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities" RELATED [] +synonym: "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" EXACT [Orphanet:800] synonym: "Osteochondromuscular dystrophy" EXACT [Orphanet:800] -synonym: "osteochondromuscular dystrophy" EXACT [DOID:0090005] +synonym: "osteochondromuscular dystrophy" EXACT [Orphanet:800] synonym: "Schwartz Jampel Aberfeld syndrome" RELATED [GARD:0000250] synonym: "Schwartz Jampel Syndrome" EXACT [NORD:1697] synonym: "Schwartz Jampel syndrome" RELATED [GARD:0000250] -synonym: "Schwartz-Jampel syndrome" EXACT CLINGEN_LABEL [Orphanet:800] -synonym: "Schwartz-Jampel-Aberfeld syndrome" EXACT [DOID:0090005, OMIM:255800, Orphanet:800] +synonym: "Schwartz-Jampel syndrome" EXACT CLINGEN_LABEL [icd11.foundation:1725668060, NCIT:C35008, Orphanet:800] +synonym: "Schwartz-Jampel-Aberfeld syndrome" EXACT [Orphanet:800] synonym: "SJS" EXACT ABBREVIATION [Orphanet:800] xref: GARD:250 {source="MONDO:GARD"} xref: ICD10CM:G71.1 {source="Orphanet:800/attributed", source="Orphanet:800/ntbt", source="Orphanet:800", source="DOID:0090005"} @@ -211048,7 +211080,7 @@ name: myxedema def: "A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance." [NCIT:C34834] comment: Editor note: myxedema can also refer to a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism. subset: otar {source="MONDO:OTAR"} -synonym: "myxedema" EXACT [OMIM:255900] +synonym: "myxedema" EXACT [DOID:11634, NCIT:C34834, OMIM:255900] xref: DOID:11634 {source="EFO:1001055", source="MONDO:equivalentTo"} xref: EFO:1001055 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E03.9 {source="DOID:11634"} @@ -211073,9 +211105,9 @@ subset: ordo_disorder {source="Orphanet:615"} subset: orphanet_rare {source="Orphanet:615"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atrial Myxoma, familial" RELATED [OMIM:255960] +synonym: "atrial Myxoma, familial" RELATED [] synonym: "intracardiac myxoma" RELATED [GARD:0000139] -synonym: "MYXOMA, intracardiac" RELATED [OMIM:255960] +synonym: "MYXOMA, intracardiac" RELATED [] xref: GARD:139 {source="MONDO:GARD"} xref: ICD10CM:D15.1 {source="MONDO:relatedTo", source="Orphanet:615", source="Orphanet:615/attributed", source="Orphanet:615/ntbt"} xref: icd11.foundation:1491085859 {source="MONDO:equivalentTo"} @@ -211102,10 +211134,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:2662"} subset: orphanet_rare {source="Orphanet:2662"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Keipert syndrome" EXACT [OMIM:255980, OMIM:301026] -synonym: "Keipert syndrome, X-linked recessive" EXACT [OMIM:301026, OMIM:genemap2] -synonym: "KPTS" EXACT ABBREVIATION [OMIM:301026] -synonym: "nasodigitoacoustic syndrome" EXACT [OMIM:255980, OMIM:301026, Orphanet:2662] +synonym: "Keipert syndrome" EXACT [DOID:0111842, NCIT:C186306, OMIM:301026, Orphanet:2662] +synonym: "Keipert syndrome, X-linked recessive" EXACT [] +synonym: "KPTS" EXACT ABBREVIATION [DOID:0111842, NCIT:C186306, OMIM:301026] +synonym: "nasodigitoacoustic syndrome" EXACT [DOID:0111842, Orphanet:2662] synonym: "nasodigitoacoustic syndrome, formerly" EXACT [OMIM:301026] xref: DOID:0111842 {source="MONDO:equivalentTo"} xref: GARD:267 {source="MONDO:GARD"} @@ -211136,8 +211168,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics" RELATED [GARD:0003929] synonym: "deafness-cataract-skeletal anomalies syndrome" EXACT [Orphanet:2663] -synonym: "deafness-cataracts-skeletal anomalies syndrome" EXACT [Orphanet:2663] -synonym: "Nathalie syndrome" EXACT [OMIM:255990] +synonym: "deafness-cataracts-skeletal anomalies syndrome" EXACT [] +synonym: "Nathalie syndrome" EXACT [OMIM:255990, Orphanet:2663] synonym: "sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome" EXACT [Orphanet:2663] xref: GARD:3929 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2663", source="Orphanet:2663/attributed", source="Orphanet:2663/ntbt"} @@ -211161,14 +211193,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:168572"} subset: orphanet_rare {source="Orphanet:168572"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bailey-Bloch congenital myopathy" EXACT CLINGEN_LABEL [] +synonym: "Bailey-Bloch congenital myopathy" EXACT CLINGEN_LABEL [DOID:0060346] synonym: "congenital myopathy - cleft palate - malignant hyperthermia" RELATED [GARD:0008432] synonym: "congenital myopathy cleft palate and malignant hyperthermia" RELATED [GARD:0008432] synonym: "congenital myopathy-cleft palate-malignant hyperthermia syndrome" EXACT [Orphanet:168572] -synonym: "myopathy, congenital, baily-bloch" EXACT [OMIM:255995, OMIM:genemap2] -synonym: "myopathy, congenital, with cleft palate and malignant hyperthermia" RELATED [OMIM:255995] -synonym: "NAM" RELATED DEPRECATED [MONDO:Lexical, OMIM:255995] -synonym: "Native American myopathy" EXACT DEPRECATED [MONDO:Lexical, OMIM:255995] +synonym: "myopathy, congenital, baily-bloch" EXACT [] +synonym: "myopathy, congenital, with cleft palate and malignant hyperthermia" RELATED [] +synonym: "NAM" RELATED DEPRECATED [MONDO:Lexical] +synonym: "Native American myopathy" EXACT DEPRECATED [DOID:0060346, MONDO:Lexical, OMIM:255995, Orphanet:168572] synonym: "STAC3 disorder" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK542808/] xref: DOID:0060346 {source="MONDO:equivalentTo"} xref: GARD:8432 {source="MONDO:GARD"} @@ -211201,21 +211233,21 @@ subset: orphanet_rare {source="Orphanet:506"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "infantile necrotizing encephalomyelopathy" EXACT [DOID:3652] -synonym: "infantile subacute necrotizing encephalopathy" EXACT [Orphanet:506] +synonym: "infantile subacute necrotizing encephalopathy" EXACT [icd11.foundation:672871576, Orphanet:506] synonym: "juvenile subacute necrotizing encephalomyelopathy" EXACT [DOID:3652] -synonym: "Leigh disease" EXACT [Orphanet:506] -synonym: "Leigh syndrome" EXACT CLINGEN_LABEL [DOID:3652, MONDO:Lexical, OMIM:256000] -synonym: "Leigh syndrome due to mitochondrial Complex 1 deficiency" RELATED [OMIM:256000] -synonym: "Leigh syndrome due to mitochondrial Complex 2 deficiency" RELATED [OMIM:256000] -synonym: "Leigh syndrome due to mitochondrial Complex 3 deficiency" RELATED [OMIM:256000] -synonym: "Leigh syndrome due to mitochondrial Complex 4 deficiency" RELATED [OMIM:256000] -synonym: "Leigh syndrome due to mitochondrial Complex 5 deficiency" RELATED [OMIM:256000] +synonym: "Leigh disease" EXACT [DOID:3652, icd11.foundation:672871576, NCIT:C84814, Orphanet:506] +synonym: "Leigh syndrome" EXACT CLINGEN_LABEL [DOID:3652, icd11.foundation:672871576, MONDO:Lexical, NCIT:C84814, Orphanet:506] +synonym: "Leigh syndrome due to mitochondrial Complex 1 deficiency" RELATED [] +synonym: "Leigh syndrome due to mitochondrial Complex 2 deficiency" RELATED [] +synonym: "Leigh syndrome due to mitochondrial Complex 3 deficiency" RELATED [] +synonym: "Leigh syndrome due to mitochondrial Complex 4 deficiency" RELATED [] +synonym: "Leigh syndrome due to mitochondrial Complex 5 deficiency" RELATED [] synonym: "Leigh syndrome spectrum" EXACT [https://orcid.org/0000-0002-5478-8046, https://www.clinicalgenome.org/affiliation/40027/] synonym: "Leigh's disease" EXACT [NCIT:C84814] synonym: "Leigh's necrotizing encephalopathy" RELATED [GARD:0006877] -synonym: "LS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:256000] +synonym: "LS" EXACT ABBREVIATION [MONDO:Lexical] synonym: "LSS" EXACT ABBREVIATION [https://orcid.org/0000-0002-5478-8046, https://www.clinicalgenome.org/affiliation/40027/] -synonym: "necrotizing encephalopathy, infantile Subacute, of Leigh" RELATED [GARD:0006877, OMIM:256000] +synonym: "necrotizing encephalopathy, infantile Subacute, of Leigh" RELATED [GARD:0006877] synonym: "SNE" RELATED ABBREVIATION [GARD:0006877] synonym: "subacute necrotizing encephalomyelopathy" RELATED [DOID:3652] synonym: "subacute necrotizing encephalopathy" RELATED [GARD:0006877] @@ -211255,10 +211287,10 @@ subset: ordo_disorder {source="Orphanet:2613"} subset: orphanet_rare {source="Orphanet:2613"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "focal segmental glomerulosclerosis 10" EXACT [OMIM:256020, OMIM:genemap2] -synonym: "glomerular basement Membrane disease, nail-patella syndrome type" RELATED [OMIM:256020] +synonym: "focal segmental glomerulosclerosis 10" EXACT [OMIM:256020] +synonym: "glomerular basement Membrane disease, nail-patella syndrome type" RELATED [] synonym: "nail patella like renal disease" RELATED [GARD:0000321] -synonym: "nail-patella-like renal disease" EXACT [OMIM:256020] +synonym: "nail-patella-like renal disease" EXACT [OMIM:256020, Orphanet:2613] synonym: "Salcedo syndrome" EXACT [Orphanet:2613] xref: GARD:321 {source="MONDO:GARD"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -211280,11 +211312,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15209", source="MONDO:GARD"} subset: rare synonym: "NEB nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "NEM2" EXACT ABBREVIATION [DOID:0110928, MONDO:Lexical, OMIM:256030] -synonym: "nemaline myopathy 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:256030] +synonym: "NEM2" EXACT ABBREVIATION [DOID:0110928, MONDO:Lexical, NCIT:C118784, OMIM:256030] +synonym: "nemaline myopathy 2" EXACT CLINGEN_LABEL [DOID:0110928, MONDO:Lexical, NCIT:C118784, OMIM:256030] synonym: "nemaline myopathy 2, autosomal recessive" EXACT [DOID:0110928] synonym: "nemaline myopathy caused by mutation in NEB" EXACT [MONDO:design_pattern] -synonym: "nemaline myopathy type 2" EXACT [DOID:0110928, MONDORULE:1, OMIM:256030] +synonym: "nemaline myopathy type 2" EXACT [MONDORULE:1] xref: DOID:0110928 {source="MONDO:equivalentTo"} xref: GARD:15209 {source="MONDO:GARD"} xref: MEDGEN:342534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -211313,31 +211345,31 @@ subset: ordo_disorder {source="Orphanet:324977"} subset: orphanet_rare {source="Orphanet:324977"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:256040] +synonym: "ALDD" EXACT ABBREVIATION [MONDO:Lexical] synonym: "ALDD syndrome" EXACT [Orphanet:324977] synonym: "amyotrophy fat tissue anomaly" RELATED [GARD:0003916] -synonym: "amyotrophy-fat tissue anomaly syndrome" RELATED [Orphanet:2615] -synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" EXACT [MONDO:Lexical, OMIM:256040] +synonym: "amyotrophy-fat tissue anomaly syndrome" RELATED [] +synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" EXACT [MONDO:Lexical] synonym: "autoinflammation-lipodystrophy-dermatosis syndrome" EXACT [Orphanet:324977] synonym: "CANDLE syndrome" EXACT [GARD:0010811, MONDO:0017960] synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature" EXACT [GARD:0010811] -synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" EXACT [OMIM:256040] -synonym: "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome" EXACT [GARD:0010811, Orphanet:325004] -synonym: "JMP syndrome" EXACT [MONDO:0017959] +synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" EXACT [DOID:0050553] +synonym: "chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome" EXACT [GARD:0010811] +synonym: "JMP syndrome" EXACT [DOID:0050553, MONDO:0017959] synonym: "Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy" EXACT OMO:0003005 [] synonym: "Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy" EXACT [GARD:0010988] -synonym: "Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy" EXACT [OMIM:256040] +synonym: "Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy" EXACT [DOID:0050553] synonym: "joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy" EXACT [DOID:0050553] -synonym: "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome" EXACT [Orphanet:324999] +synonym: "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome" EXACT [] synonym: "Nakajo Nishimura syndrome" EXACT [GARD:0003916] synonym: "Nakajo syndrome" EXACT [GARD:0003917] -synonym: "Nakajo-Nishimura syndrome" EXACT [MONDO:0016849, OMIM:256040] -synonym: "NNS" EXACT ABBREVIATION [Orphanet:2615] +synonym: "Nakajo-Nishimura syndrome" EXACT [DOID:0050553, MONDO:0016849] +synonym: "NNS" EXACT ABBREVIATION [] synonym: "nodular erythema digital changes" RELATED [GARD:0003917] synonym: "PRAAS" EXACT ABBREVIATION [Orphanet:324977] synonym: "proteasome disability syndrome" EXACT [Orphanet:324977] synonym: "proteasome-associated autoinflammatory syndrome" EXACT [Orphanet:324977] -synonym: "secondary hypertrophic osteoperiostosis with pernio" EXACT [Orphanet:2615] +synonym: "secondary hypertrophic osteoperiostosis with pernio" EXACT [] xref: DOID:0050553 {source="MONDO:equivalentTo"} xref: DOID:0060913 {source="MONDO:equivalentTo"} xref: GARD:13824 {source="MONDO:GARD"} @@ -211385,12 +211417,12 @@ synonym: "AO2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:256050, Orphanet:56304] synonym: "AOII" EXACT ABBREVIATION [OMIM:256050, Orphanet:56304] synonym: "atelosteogenesis II" RELATED [GARD:0008329] synonym: "atelosteogenesis type 2" EXACT [Orphanet:56304] -synonym: "atelosteogenesis type II" EXACT CLINGEN_LABEL [] -synonym: "atelosteogenesis, type 2" RELATED [OMIM:256050] -synonym: "atelosteogenesis, type II" RELATED [MONDO:Lexical, OMIM:256050] -synonym: "De 50A Chapelle dysplasia" RELATED [OMIM:256050] -synonym: "De la Chapelle dysplasia" RELATED [Orphanet:56304] -synonym: "neonatal osseous dysplasia 1" RELATED [OMIM:256050] +synonym: "atelosteogenesis type II" EXACT CLINGEN_LABEL [Orphanet:56304] +synonym: "atelosteogenesis, type 2" RELATED [] +synonym: "atelosteogenesis, type II" RELATED [MONDO:Lexical] +synonym: "De 50A Chapelle dysplasia" RELATED [] +synonym: "De la Chapelle dysplasia" RELATED [] +synonym: "neonatal osseous dysplasia 1" RELATED [] synonym: "neonatal osseous dysplasia type 1" EXACT [Orphanet:56304] xref: GARD:8329 {source="MONDO:GARD"} xref: ICD10CM:Q77.5 {source="Orphanet:56304/attributed", source="Orphanet:56304/ntbt", source="Orphanet:56304", source="MONDO:directSiblingOf"} @@ -211421,15 +211453,15 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93592"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial juvenile nephronophthisis" EXACT [NCIT:C74998] -synonym: "juvenile nephronophthisis" EXACT [NCIT:C74998] +synonym: "juvenile nephronophthisis" EXACT [NCIT:C74998, Orphanet:93592] synonym: "juvenile nephronophthisis 1" EXACT [DOID:0111112] synonym: "nephronophthisis (disease) caused by mutation in NPHP1" EXACT [] -synonym: "nephronophthisis 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:256100] -synonym: "nephronophthisis 1, juvenile" EXACT [OMIM:256100, OMIM:genemap2] -synonym: "nephronophthisis type 1" EXACT [DOID:0111112, MONDORULE:1, OMIM:256100] -synonym: "nephronophthisis, familial juvenile" RELATED [OMIM:256100] -synonym: "NPH1" EXACT ABBREVIATION [DOID:0111112] -synonym: "Nph1" RELATED [OMIM:256100] +synonym: "nephronophthisis 1" EXACT CLINGEN_LABEL [DOID:0111112, MONDO:Lexical, NCIT:C74998, OMIM:256100] +synonym: "nephronophthisis 1, juvenile" EXACT [] +synonym: "nephronophthisis type 1" EXACT [MONDORULE:1] +synonym: "nephronophthisis, familial juvenile" RELATED [] +synonym: "NPH1" EXACT ABBREVIATION [DOID:0111112, NCIT:C74998, OMIM:256100] +synonym: "Nph1" RELATED [] synonym: "NPHP1" EXACT ABBREVIATION [DOID:0111112, MONDO:Lexical, OMIM:256100] synonym: "NPHP1 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0111112 {source="MONDO:equivalentTo"} @@ -211468,7 +211500,7 @@ subset: rare synonym: "Edwards Patton Dilly syndrome" RELATED [GARD:0003940] synonym: "Edwards-Patton-Dilly syndrome" EXACT [Orphanet:2668] synonym: "nephropathy - deafness - hyperparathyroidism" RELATED [GARD:0003940] -synonym: "nephropathy, deafness, and hyperparathyroidism" RELATED [OMIM:256120] +synonym: "nephropathy, deafness, and hyperparathyroidism" RELATED [] xref: GARD:3940 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2668", source="Orphanet:2668/attributed", source="Orphanet:2668/ntbt"} xref: MEDGEN:340569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -211499,7 +211531,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Braun-Bayer syndrome" EXACT [Orphanet:2669] synonym: "nephrosis deafness urinary tract digital malformation" RELATED [GARD:0003943] -synonym: "nephrosis with deafness and urinary tract and digital malformations" RELATED [OMIM:256200] +synonym: "nephrosis with deafness and urinary tract and digital malformations" RELATED [] xref: GARD:3943 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2669", source="Orphanet:2669/attributed", source="Orphanet:2669/ntbt"} xref: MEDGEN:340568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -211525,14 +211557,14 @@ synonym: "CnF" RELATED [GARD:0001500] synonym: "congenital nephrotic syndrome - Finnish type" EXACT [NCIT:C122795] synonym: "congenital nephrotic syndrome 1" RELATED [GARD:0001500] synonym: "congenital nephrotic syndrome Finnish type" RELATED [GARD:0001500] -synonym: "congenital nephrotic syndrome, Finnish type" EXACT CLINGEN_LABEL [] -synonym: "Finnish congenital nephrosis" EXACT [OMIM:256300, Orphanet:839] +synonym: "congenital nephrotic syndrome, Finnish type" EXACT CLINGEN_LABEL [Orphanet:839] +synonym: "Finnish congenital nephrosis" EXACT [DOID:0080390, OMIM:256300, Orphanet:839] synonym: "nephrosis 1, congenital, Finnish type" RELATED [GARD:0001500] synonym: "nephrosis, congenital" RELATED [GARD:0001500] synonym: "nephrotic syndrome - NPHS1 associated" EXACT [NCIT:C122795] -synonym: "nephrotic syndrome, congenital" RELATED [OMIM:256300] -synonym: "nephrotic syndrome, type 1" RELATED [MONDO:Lexical, OMIM:256300] -synonym: "NPHS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256300] +synonym: "nephrotic syndrome, congenital" RELATED [] +synonym: "nephrotic syndrome, type 1" RELATED [MONDO:Lexical] +synonym: "NPHS1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080390 {source="MONDO:equivalentTo"} xref: GARD:1500 {source="MONDO:GARD"} xref: ICD10CM:N04.8 {source="Orphanet:839/attributed", source="Orphanet:839/ntbt", source="Orphanet:839"} @@ -211568,7 +211600,7 @@ synonym: "mesangial sclerosis, diffuse" RELATED [GARD:0003547] synonym: "nephrotic syndrome caused by mutation in WT1" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, early onset with diffuse mesangial sclerosis" RELATED [GARD:0003547] synonym: "nephrotic syndrome, type 4" EXACT [MONDO:Lexical, OMIM:256370] -synonym: "NPHS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256370] +synonym: "NPHS4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "WT1 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080383 {source="MONDO:equivalentTo"} xref: GARD:15210 {source="MONDO:GARD"} @@ -211591,17 +211623,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABCC8 hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "HHF1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256450] +synonym: "HHF1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8" EXACT [] -synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" RELATED [OMIM:256450] +synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" RELATED [] synonym: "hyperinsulinemic hypoglycemia due to SUR1 deficiency" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hyperinsulinemic hypoglycemia, familial, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:256450] -synonym: "hyperinsulinemic hypoglycemia, familial, type 1" EXACT [MONDORULE:1, OMIM:256450] -synonym: "hyperinsulinism, congenital" RELATED [OMIM:256450] -synonym: "hyperinsulinism, familial, with pancreatic Nesidioblastosis" RELATED [OMIM:256450] -synonym: "hypoglycemia, hyperinsulinemic, of infancy" RELATED [OMIM:256450] -synonym: "Nesidioblastosis of pancreas" RELATED [OMIM:256450] -synonym: "persistent hyperinsulinemic hypoglycemia of infancy" RELATED [OMIM:256450] +synonym: "hyperinsulinemic hypoglycemia, familial, type 1" EXACT [MONDORULE:1] +synonym: "hyperinsulinism, congenital" RELATED [] +synonym: "hyperinsulinism, familial, with pancreatic Nesidioblastosis" RELATED [] +synonym: "hypoglycemia, hyperinsulinemic, of infancy" RELATED [] +synonym: "Nesidioblastosis of pancreas" RELATED [] +synonym: "persistent hyperinsulinemic hypoglycemia of infancy" RELATED [] xref: DOID:0070219 {source="MONDO:equivalentTo"} xref: MEDGEN:419505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:256450 {source="MONDO:equivalentTo"} @@ -211626,13 +211658,13 @@ subset: orphanet_rare {source="Orphanet:634"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bamboo hair syndrome" EXACT [Orphanet:634] -synonym: "Comel-Netherton syndrome" RELATED [OMIM:256500] +synonym: "Comel-Netherton syndrome" RELATED [] synonym: "Comèl-Netherton syndrome" EXACT [Orphanet:634] -synonym: "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE" RELATED [OMIM:256500] +synonym: "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE" RELATED [] synonym: "Ichthyosis, Netherton Syndrome" EXACT [NORD:1290] -synonym: "neth" RELATED [MONDO:Lexical, OMIM:256500] -synonym: "Netherton disease" RELATED [OMIM:256500] -synonym: "Netherton syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:256500] +synonym: "neth" RELATED [MONDO:Lexical] +synonym: "Netherton disease" RELATED [] +synonym: "Netherton syndrome" EXACT CLINGEN_LABEL [DOID:0050474, icd11.foundation:1797493665, MONDO:Lexical, NCIT:C84922, OMIM:256500, Orphanet:634] synonym: "NS" EXACT ABBREVIATION [OMIM:256500, Orphanet:634] xref: DOID:0050474 {source="MONDO:equivalentTo"} xref: GARD:7182 {source="MONDO:GARD"} @@ -211675,14 +211707,14 @@ subset: gard_rare {source="GARD:22336", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:583607"} subset: rare -synonym: "3-Phosphoglycerate dehydrogenase deficiency, neonatal form" EXACT [Orphanet:2671] +synonym: "3-Phosphoglycerate dehydrogenase deficiency, neonatal form" EXACT [] synonym: "3-phosphoglycerate dehydrogenase deficiency, prenatal form" EXACT [Orphanet:583607] -synonym: "Neu-Laxova syndrome" RELATED [OMIM:256520] -synonym: "Neu-Laxova syndrome 1" EXACT [MONDO:Lexical, OMIM:256520] +synonym: "Neu-Laxova syndrome" RELATED [] +synonym: "Neu-Laxova syndrome 1" EXACT [DOID:0080076, MONDO:Lexical, OMIM:256520] synonym: "Neu-Laxova syndrome caused by mutation in PHGDH" EXACT [MONDO:design_pattern] synonym: "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency" EXACT [Orphanet:583607] -synonym: "Neu-Laxova syndrome type 1" EXACT [DOID:0080076, MONDORULE:1, OMIM:256520] -synonym: "NLS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256520] +synonym: "Neu-Laxova syndrome type 1" EXACT [MONDORULE:1] +synonym: "NLS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PHGDH Neu-Laxova syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080076 {source="MONDO:equivalentTo"} xref: GARD:22336 {source="MONDO:GARD"} @@ -211709,17 +211741,17 @@ subset: ordo_disorder {source="Orphanet:351"} subset: orphanet_rare {source="Orphanet:351"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cathepsin A deficiency" RELATED [OMIM:256540] +synonym: "cathepsin A deficiency" RELATED [] synonym: "cathepsin A deficiency of" RELATED [GARD:0003953] -synonym: "galactosialidosis" EXACT [MONDO:Lexical, OMIM:256540] -synonym: "Goldberg syndrome" EXACT [OMIM:256540, Orphanet:351] -synonym: "GSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256540] -synonym: "lysosomal protective Protein deficiency" RELATED [OMIM:256540] +synonym: "galactosialidosis" EXACT [DOID:0080540, icd11.foundation:1838660035, MONDO:Lexical, NCIT:C129928, OMIM:256540, Orphanet:351] +synonym: "Goldberg syndrome" EXACT [icd11.foundation:1838660035, NCIT:C129928, OMIM:256540, Orphanet:351] +synonym: "GSL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lysosomal protective Protein deficiency" RELATED [] synonym: "lysosomal protective protein deficiency of" RELATED [GARD:0003953] -synonym: "neuraminidase deficiency with beta-galactosidase deficiency" EXACT [OMIM:256540, Orphanet:351] -synonym: "neuraminidase/Beta-galactosidase expression" RELATED [OMIM:256540] -synonym: "PPCA deficiency" RELATED [OMIM:256540] -synonym: "protective Protein/Cathepsin a deficiency" RELATED [OMIM:256540] +synonym: "neuraminidase deficiency with beta-galactosidase deficiency" EXACT [icd11.foundation:1838660035, NCIT:C129928, OMIM:256540, Orphanet:351] +synonym: "neuraminidase/Beta-galactosidase expression" RELATED [] +synonym: "PPCA deficiency" RELATED [] +synonym: "protective Protein/Cathepsin a deficiency" RELATED [] xref: DOID:0080540 {source="MONDO:equivalentTo"} xref: GARD:3953 {source="MONDO:GARD"} xref: ICD10CM:E77.1 {source="Orphanet:351", source="Orphanet:351/attributed", source="Orphanet:351/ntbt"} @@ -211755,35 +211787,35 @@ subset: ordo_disorder {source="Orphanet:87876"} subset: orphanet_rare {source="Orphanet:87876"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cherry Red spot--myoclonus syndrome" RELATED [OMIM:256550] +synonym: "cherry Red spot--myoclonus syndrome" RELATED [] synonym: "dysmorphic sialidosis" EXACT [] synonym: "dysmorphic sialidosis with renal involvement" EXACT [] -synonym: "glycoprotein neuraminidase deficiency" RELATED [OMIM:256550] -synonym: "glycoproteinosis" RELATED [DOID:3343] -synonym: "infantile dysmorphic sialidosis" EXACT [Orphanet:87876] -synonym: "lipomucopolysaccharidosis" RELATED [OMIM:256550] -synonym: "ML 1" RELATED [OMIM:256550] +synonym: "glycoprotein neuraminidase deficiency" RELATED [] +synonym: "glycoproteinosis" RELATED [] +synonym: "infantile dysmorphic sialidosis" EXACT [icd11.foundation:1855856697, Orphanet:87876] +synonym: "lipomucopolysaccharidosis" RELATED [] +synonym: "ML 1" RELATED [] synonym: "ML1" RELATED ABBREVIATION [GARD:0007183] -synonym: "mucolipidosis 1" RELATED [OMIM:256550] +synonym: "mucolipidosis 1" RELATED [] synonym: "mucolipidosis I" EXACT [NCIT:C125596] synonym: "mucolipidosis type 1" RELATED [GARD:0007183] synonym: "mucolipidosis type I" EXACT [DOID:3343] -synonym: "myoclonus--cherry Red spot syndrome" RELATED [OMIM:256550] +synonym: "myoclonus--cherry Red spot syndrome" RELATED [] synonym: "nephrosialidosis" EXACT [MONDO:0009730, OMIM:256150] synonym: "NEU 1 deficiency" RELATED [GARD:0007183] -synonym: "Neu deficiency" RELATED [OMIM:256550] -synonym: "Neu1 deficiency" RELATED [OMIM:256550] +synonym: "Neu deficiency" RELATED [] +synonym: "Neu1 deficiency" RELATED [] synonym: "NEU1 sialidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Neug deficiency" RELATED [OMIM:256550] -synonym: "neuraminidase 1 deficiency" RELATED [OMIM:256550] -synonym: "neuraminidase deficiency" RELATED [OMIM:256550] -synonym: "sialidase deficiency" RELATED [OMIM:256550] -synonym: "sialidosis" BROAD [DOID:3343] +synonym: "Neug deficiency" RELATED [] +synonym: "neuraminidase 1 deficiency" RELATED [] +synonym: "neuraminidase deficiency" RELATED [] +synonym: "sialidase deficiency" RELATED [] +synonym: "sialidosis" BROAD [] synonym: "sialidosis caused by mutation in NEU1" EXACT [MONDO:design_pattern] synonym: "sialidosis type II" EXACT [NCIT:C125596] -synonym: "sialidosis, type 1" RELATED [OMIM:256550] +synonym: "sialidosis, type 1" RELATED [] synonym: "sialidosis, type 2" EXACT [OMIM:256550] -synonym: "sialidosis, type I" EXACT [OMIM:256550, OMIM:genemap2] +synonym: "sialidosis, type I" EXACT [] synonym: "sialidosis, type II" RELATED [GARD:0007183] xref: DOID:3343 {source="MONDO:equivalentTo"} xref: GARD:7183 {source="MONDO:GARD"} @@ -211845,8 +211877,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Freire Maia-Pinheiro-Opitz syndrome" EXACT [Orphanet:2673] synonym: "Freire-Maia Pinheiro Opitz syndrome" RELATED [GARD:0003964] -synonym: "neurofaciodigitorenal syndrome" EXACT [OMIM:256690] -synonym: "Nfdr syndrome" RELATED [OMIM:256690] +synonym: "neurofaciodigitorenal syndrome" EXACT [OMIM:256690, Orphanet:2673] +synonym: "Nfdr syndrome" RELATED [] xref: GARD:3964 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2673/attributed", source="Orphanet:2673/ntbt", source="Orphanet:2673"} xref: MEDGEN:163212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -211866,9 +211898,9 @@ name: neuroblastoma, susceptibility to, 1 subset: inferred_rare subset: predisposition subset: rare -synonym: "neuroblastoma, susceptibility to" BROAD [OMIM:256700] -synonym: "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" EXACT [OMIM:256700, OMIM:genemap2] -synonym: "susceptibility to neuroblastoma" BROAD [OMIM:256700] +synonym: "neuroblastoma, susceptibility to" BROAD [] +synonym: "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" EXACT [] +synonym: "susceptibility to neuroblastoma" BROAD [] xref: MEDGEN:412713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:256700 {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:256700"} @@ -211891,9 +211923,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:33445"} subset: orphanet_rare {source="Orphanet:33445"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ELEJALDE disease" RELATED [OMIM:256710] -synonym: "Elejalde disease" EXACT [Orphanet:33445] -synonym: "neuroectodermal melanolysosomal disease" EXACT [OMIM:256710] +synonym: "ELEJALDE disease" RELATED [] +synonym: "Elejalde disease" EXACT [icd11.foundation:771734461] +synonym: "neuroectodermal melanolysosomal disease" EXACT [icd11.foundation:771734461, Orphanet:33445] xref: GARD:16630 {source="MONDO:GARD"} xref: ICD10CM:L81.4 {source="Orphanet:33445", source="Orphanet:33445/attributed", source="Orphanet:33445/ntbt"} xref: icd11.foundation:771734461 {source="MONDO:equivalentTo"} @@ -211934,26 +211966,26 @@ synonym: "adult CLN (type of CLN1)" NARROW [GARD:0001219] synonym: "ceroid lipofuscinosis neuronal 1" EXACT [GARD:0001219] synonym: "ceroid lipofuscinosis, neuronal, 1" EXACT [MONDO:Lexical, OMIM:256730] synonym: "ceroid lipofuscinosis, neuronal, 1, variable Age at onset" EXACT [OMIM:256730] -synonym: "ceroid lipofuscinosis, neuronal, type 1" EXACT [MONDORULE:1, OMIM:256730] -synonym: "ceroid storage disease" EXACT [OMIM:214200] +synonym: "ceroid lipofuscinosis, neuronal, type 1" EXACT [MONDORULE:1] +synonym: "ceroid storage disease" EXACT [] synonym: "classic late infantile CLN (type of CLN1)" NARROW [GARD:0001219] -synonym: "CLN1" EXACT ABBREVIATION [DOID:0110721, MONDO:Lexical, OMIM:256730] +synonym: "CLN1" EXACT ABBREVIATION [DOID:0110721, MONDO:Lexical, NCIT:C85861, OMIM:256730] synonym: "CLN1 disease" EXACT [Orphanet:228329] synonym: "CLN1 variable age at onset" EXACT [GARD:0001219] -synonym: "congenital NCL" RELATED [Orphanet:168486] +synonym: "congenital NCL" RELATED [] synonym: "congenital neuronal ceroid lipofuscinosis" RELATED [MONDO:0008956] synonym: "infantile CLN (type of CLN1)" NARROW [GARD:0001219] -synonym: "infantile neuronal ceroid lipofuscinosis" NARROW [NCIT:C85861] +synonym: "infantile neuronal ceroid lipofuscinosis" NARROW [] synonym: "juvenile CLN (type of CLN1)" NARROW [GARD:0001219] -synonym: "lipofuscin storage disease" RELATED [OMIM:214200] -synonym: "neuronal ceroid lipofuscinosis 1" EXACT CLINGEN_LABEL [] +synonym: "lipofuscin storage disease" RELATED [] +synonym: "neuronal ceroid lipofuscinosis 1" EXACT CLINGEN_LABEL [DOID:0110721] synonym: "neuronal ceroid lipofuscinosis 1 variable age of onset" EXACT [DOID:0110721] synonym: "neuronal ceroid lipofuscinosis caused by mutation in PPT1" EXACT [MONDO:design_pattern] -synonym: "neuronal ceroid lipofuscinosis type 1" EXACT [DOID:0110721, MONDORULE:1] -synonym: "neuronal ceroid lipofuscinosis, infantile" NARROW [OMIM:256730] +synonym: "neuronal ceroid lipofuscinosis type 1" EXACT [MONDORULE:1, NCIT:C85861] +synonym: "neuronal ceroid lipofuscinosis, infantile" NARROW [] synonym: "PPT1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Santavuori disease" NARROW [OMIM:256730] -synonym: "Santavuori-Haltia disease" NARROW [OMIM:256730] +synonym: "Santavuori disease" NARROW [] +synonym: "Santavuori-Haltia disease" NARROW [] xref: DOID:0110721 {source="MONDO:equivalentTo"} xref: GARD:1219 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="DOID:0110721", source="Orphanet:168486", source="Orphanet:228329/attributed", source="Orphanet:228329/ntbt", source="Orphanet:168486/attributed", source="Orphanet:168486/ntbt", source="Orphanet:228329"} @@ -211994,21 +212026,21 @@ subset: ordo_etiological_subtype {source="Orphanet:228360"} subset: orphanet_rare {source="Orphanet:228360"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ceroid lipofuscinosis, neuronal, 5" RELATED [MONDO:Lexical, OMIM:256731] -synonym: "ceroid lipofuscinosis, neuronal, 5, variable Age at onset" RELATED [OMIM:256731] -synonym: "ceroid lipofuscinosis, neuronal, type 5" EXACT [MONDORULE:1, OMIM:256731] +synonym: "ceroid lipofuscinosis, neuronal, 5" RELATED [MONDO:Lexical] +synonym: "ceroid lipofuscinosis, neuronal, 5, variable Age at onset" RELATED [] +synonym: "ceroid lipofuscinosis, neuronal, type 5" EXACT [MONDORULE:1] synonym: "CLN5" EXACT ABBREVIATION [DOID:0110728, MONDO:Lexical, OMIM:256731] -synonym: "CLN5 disease" RELATED [Orphanet:228360] +synonym: "CLN5 disease" RELATED [] synonym: "CLN5 disease, adult" RELATED [GARD:0001223] synonym: "CLN5 disease, juvenile" RELATED [GARD:0001223] synonym: "CLN5 disease, late infantile (subtype)" RELATED [GARD:0001223] synonym: "CLN5 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Finnish Vlincl" RELATED [OMIM:256731] +synonym: "Finnish Vlincl" RELATED [] synonym: "neuronal ceroid lipofuscinosis 5 variable age of onset" EXACT [DOID:0110728] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN5" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis Finnish variant" RELATED [GARD:0001223] -synonym: "neuronal ceroid lipofuscinosis type 5" EXACT [DOID:0110728, MONDORULE:1] -synonym: "neuronal ceroid lipofuscinosis, late infantile, Finnish variant" RELATED [OMIM:256731] +synonym: "neuronal ceroid lipofuscinosis type 5" EXACT [MONDORULE:1] +synonym: "neuronal ceroid lipofuscinosis, late infantile, Finnish variant" RELATED [] xref: DOID:0110728 {source="MONDO:equivalentTo"} xref: GARD:1223 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="Orphanet:228360", source="DOID:0110728", source="Orphanet:228360/attributed", source="Orphanet:228360/ntbt"} @@ -212036,23 +212068,23 @@ subset: ordo_disorder {source="Orphanet:642"} subset: orphanet_rare {source="Orphanet:642"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CIP-anhidrosis syndrome" EXACT [Orphanet:642] -synonym: "CIPA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256800] -synonym: "congenital insensitivity to pain with anhidrosis" EXACT [NCIT:C118633] -synonym: "congenital insensitivity to pain-anhidrosis syndrome" EXACT [Orphanet:642] -synonym: "familial dysautonomia, type 2" RELATED [OMIM:256800] -synonym: "hereditary sensory and autonomic neuropathy 4" RELATED [OMIM:256800] +synonym: "CIP-anhidrosis syndrome" EXACT [] +synonym: "CIPA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "congenital insensitivity to pain with anhidrosis" EXACT [icd11.foundation:1831234152, NCIT:C118633, Orphanet:642] +synonym: "congenital insensitivity to pain-anhidrosis syndrome" EXACT [] +synonym: "familial dysautonomia, type 2" RELATED [] +synonym: "hereditary sensory and autonomic neuropathy 4" RELATED [] synonym: "hereditary sensory and autonomic neuropathy caused by mutation in NTRK1" EXACT [MONDO:design_pattern] -synonym: "Hereditary Sensory and Autonomic Neuropathy Type IV" EXACT [NORD:1236] -synonym: "hereditary sensory and autonomic neuropathy type IV" EXACT [Orphanet:642] -synonym: "hereditary sensory neuropathy type 4" RELATED [DOID:0070146] +synonym: "Hereditary Sensory and Autonomic Neuropathy Type IV" EXACT [icd11.foundation:1831234152, NCIT:C118633, NORD:1236, Orphanet:642] +synonym: "hereditary sensory and autonomic neuropathy type IV" EXACT [icd11.foundation:1831234152, NCIT:C118633, Orphanet:642] +synonym: "hereditary sensory neuropathy type 4" RELATED [] synonym: "hereditary sensory neuropathy type IV" EXACT [DOID:0070146] -synonym: "HSAN 4" RELATED [OMIM:256800] +synonym: "HSAN 4" RELATED [] synonym: "HSAN IV" RELATED [GARD:0003006] -synonym: "HSAN4" EXACT ABBREVIATION [Orphanet:642] +synonym: "HSAN4" EXACT ABBREVIATION [NCIT:C118633, Orphanet:642] synonym: "HSNAN4" RELATED ABBREVIATION [GARD:0003006] synonym: "insensitivity to pain, congenital, with anhidrosis" EXACT [DOID:0070146, MONDO:Lexical, OMIM:256800] -synonym: "neuropathy, congenital sensory, with anhidrosis" RELATED [OMIM:256800] +synonym: "neuropathy, congenital sensory, with anhidrosis" RELATED [] synonym: "NTRK1 hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070146 {source="MONDO:equivalentTo"} xref: GARD:3006 {source="MONDO:GARD"} @@ -212084,12 +212116,12 @@ subset: ordo_disorder {source="Orphanet:255229"} subset: orphanet_rare {source="Orphanet:255229"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mitochondrial DNA depletion syndrome 6" RELATED [DOID:0080125, GARD:0003972] +synonym: "mitochondrial DNA depletion syndrome 6" RELATED [GARD:0003972] synonym: "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" EXACT [MONDO:Lexical, OMIM:256810] synonym: "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome" RELATED [GARD:0003972] -synonym: "MTDPS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256810] -synonym: "Navajo familial neurogenic arthropathy" RELATED [OMIM:256810] -synonym: "Navajo neurohepatopathy" EXACT [OMIM:256810] +synonym: "MTDPS6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Navajo familial neurogenic arthropathy" RELATED [] +synonym: "Navajo neurohepatopathy" EXACT [DOID:0080125, OMIM:256810, Orphanet:255229] synonym: "Navajo neuropathy" EXACT [OMIM:256810, Orphanet:255229] synonym: "NN" RELATED ABBREVIATION [GARD:0003972] xref: DOID:0080125 {source="MONDO:equivalentTo"} @@ -212114,9 +212146,9 @@ subset: ordo_disorder {source="Orphanet:139578"} subset: orphanet_rare {source="Orphanet:139578"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary sensory and autonomic neuropathy with spastic paraplegia" EXACT CLINGEN_LABEL [] -synonym: "HSAN with spastic paraplegia" EXACT [Orphanet:139578] -synonym: "neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" RELATED [OMIM:256840] +synonym: "hereditary sensory and autonomic neuropathy with spastic paraplegia" EXACT CLINGEN_LABEL [icd11.foundation:813709854] +synonym: "HSAN with spastic paraplegia" EXACT [] +synonym: "neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" RELATED [] xref: GARD:16959 {source="MONDO:GARD"} xref: ICD10CM:G60.8 {source="Orphanet:139578", source="Orphanet:139578/attributed", source="Orphanet:139578/ntbt"} xref: icd11.foundation:813709854 {source="MONDO:equivalentTo"} @@ -212145,16 +212177,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:643"} subset: orphanet_rare {source="Orphanet:643"} subset: rare -synonym: "gan" EXACT [OMIM:256850, Orphanet:643] +synonym: "GAN" EXACT ABBREVIATION [Orphanet:643] +synonym: "gan" EXACT [OMIM:256850] synonym: "GAN giant axonal neuropathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "gan giant axonal neuropathy" EXACT [MONDO:design_pattern] -synonym: "GAN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:256850] -synonym: "giant axonal neuropathy 1" EXACT CLINGEN_LABEL [] -synonym: "giant axonal neuropathy 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:256850] +synonym: "GAN1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "giant axonal neuropathy 1" EXACT CLINGEN_LABEL [DOID:0090068] +synonym: "giant axonal neuropathy 1, autosomal recessive" RELATED [MONDO:Lexical] synonym: "giant axonal neuropathy caused by mutation in GAN" EXACT [] synonym: "giant axonal neuropathy caused by mutation in gan" EXACT [MONDO:design_pattern] -synonym: "giant axonal neuropathy type 1" EXACT [DOID:0090068, MONDORULE:1] -synonym: "giant axonal neuropathy-1" EXACT [OMIM:256850, OMIM:genemap2] +synonym: "giant axonal neuropathy type 1" EXACT [MONDORULE:1] +synonym: "giant axonal neuropathy-1" EXACT [] synonym: "neuropathy, giant axonal" RELATED [GARD:0006500] xref: DOID:0090068 {source="MONDO:equivalentTo"} xref: GARD:6500 {source="MONDO:GARD"} @@ -212176,8 +212209,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009750 name: neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive -synonym: "Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive" RELATED [OMIM:256855] -synonym: "HMSN with excessive myelin Outfolding, autosomal recessive" RELATED [OMIM:256855] +synonym: "Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive" RELATED [] +synonym: "HMSN with excessive myelin Outfolding, autosomal recessive" RELATED [] synonym: "neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive" EXACT [OMIM:256855] xref: MEDGEN:342491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564947 {source="MONDO:equivalentTo"} @@ -212192,7 +212225,7 @@ def: "A hereditary sensory neuropathy characterized by late onset of sensory ata subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "atypical hereditary sensory neuropathy" RELATED [DOID:0070160] +synonym: "atypical hereditary sensory neuropathy" RELATED [] synonym: "neuropathy, hereditary sensory, atypical" EXACT [OMIM:256860] xref: DOID:0070160 {source="MONDO:equivalentTo"} xref: MEDGEN:376774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -212214,7 +212247,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0009753 name: obsolete neurovisceral storage disease with Curvilinear bodies -synonym: "neurovisceral storage disease with Curvilinear bodies" EXACT [OMIM:257000] +synonym: "neurovisceral storage disease with Curvilinear bodies" EXACT [] xref: MESH:C564944 {source="MONDO:obsoleteEquivalent"} xref: OMIM:257000 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/hpo-annotation-data/issues/260" xsd:anyURI @@ -212245,13 +212278,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Atypical Nevus" EXACT [NCIT:C3694] -synonym: "Clark Nevus" EXACT [NCIT:C3694, Orphanet:625] +synonym: "Clark Nevus" EXACT [NCIT:C3694] synonym: "Clark's Nevus" EXACT [NCIT:C3694] -synonym: "dysplastic nevi" EXACT [NCIT:C3694] -synonym: "dysplastic Nevus" EXACT [NCIT:C3694, Orphanet:625] +synonym: "dysplastic nevi" EXACT [] +synonym: "dysplastic Nevus" EXACT [NCIT:C3694] synonym: "dysplastic nevus" EXACT [NCIT:C3694] -synonym: "lentiginous Nevus" EXACT [NCIT:C3694] -synonym: "NAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257150] +synonym: "lentiginous Nevus" EXACT [] +synonym: "NAD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "neutrophil actin dysfunction" EXACT [MONDO:Lexical, OMIM:257150] synonym: "Nevus with architectural disorder" EXACT [NCIT:C3694] synonym: "Nevus with architectural disorder and cytologic atypia of melanocytes" EXACT [NCIT:C3694] @@ -212275,10 +212308,10 @@ subset: ordo_disorder {source="Orphanet:77292"} subset: orphanet_rare {source="Orphanet:77292"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Niemann-Pick disease, Intermediate, protracted neurovisceral" RELATED [OMIM:257200] -synonym: "Niemann-PICK disease, type A" RELATED [OMIM:257200] -synonym: "sphingomyelin lipidosis" RELATED [OMIM:257200] -synonym: "sphingomyelinase deficiency" RELATED [OMIM:257200] +synonym: "Niemann-Pick disease, Intermediate, protracted neurovisceral" RELATED [] +synonym: "Niemann-PICK disease, type A" RELATED [] +synonym: "sphingomyelin lipidosis" RELATED [] +synonym: "sphingomyelinase deficiency" RELATED [] xref: DOID:0070111 {source="MONDO:equivalentTo"} xref: GARD:7206 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="DOID:0070111", source="Orphanet:77292/inclusion", source="Orphanet:77292", source="Orphanet:77292/ntbt"} @@ -212306,18 +212339,18 @@ def: "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, e subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "neurovisceral storage disease with vertical supranuclear ophthalmoplegia" RELATED [OMIM:257220] -synonym: "Niemann-Pick disease type C1" RELATED [DOID:0070113, GARD:0007207] -synonym: "Niemann-Pick disease with cholesterol esterification block" RELATED [OMIM:257220] -synonym: "Niemann-Pick disease without sphingomyelinase deficiency" RELATED [OMIM:257220] -synonym: "Niemann-Pick disease, chronic neuronopathic form" RELATED [OMIM:257220] -synonym: "Niemann-Pick disease, nova Scotian type" RELATED [OMIM:257220] -synonym: "Niemann-Pick disease, subacute juvenile form" RELATED [OMIM:257220] -synonym: "Niemann-Pick disease, type C" RELATED [OMIM:257220] -synonym: "Niemann-PICK disease, type C1" RELATED [OMIM:257220] -synonym: "Niemann-Pick disease, type C1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:257220] -synonym: "Niemann-Pick disease, type D" RELATED [OMIM:257220] -synonym: "NPC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257220] +synonym: "neurovisceral storage disease with vertical supranuclear ophthalmoplegia" RELATED [] +synonym: "Niemann-Pick disease type C1" RELATED [GARD:0007207] +synonym: "Niemann-Pick disease with cholesterol esterification block" RELATED [] +synonym: "Niemann-Pick disease without sphingomyelinase deficiency" RELATED [] +synonym: "Niemann-Pick disease, chronic neuronopathic form" RELATED [] +synonym: "Niemann-Pick disease, nova Scotian type" RELATED [] +synonym: "Niemann-Pick disease, subacute juvenile form" RELATED [] +synonym: "Niemann-Pick disease, type C" RELATED [] +synonym: "Niemann-PICK disease, type C1" RELATED [] +synonym: "Niemann-Pick disease, type C1" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C126864, OMIM:257220] +synonym: "Niemann-Pick disease, type D" RELATED [] +synonym: "NPC1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "type C1 Niemann-Pick disease" EXACT [NCIT:C126864] xref: DOID:0070113 {source="MONDO:equivalentTo"} xref: ICD10CM:E75.2 {source="DOID:0070113"} @@ -212341,16 +212374,16 @@ def: "Any congenital stationary night blindness in which the cause of the diseas subset: gard_rare {source="GARD:15212", source="MONDO:GARD"} subset: rare synonym: "autosomal recessive complete congenital stationary night blindness" EXACT [DOID:0110865] -synonym: "congenital stationary night blindness 1B" EXACT CLINGEN_LABEL [] +synonym: "congenital stationary night blindness 1B" EXACT CLINGEN_LABEL [DOID:0110865] synonym: "congenital stationary night blindness 1B autosomal recessive" EXACT [DOID:0110865] synonym: "congenital stationary night blindness caused by mutation in GRM6" EXACT [MONDO:design_pattern] -synonym: "congenital stationary night blindness type 1B" EXACT [DOID:0110865, MONDORULE:4] -synonym: "CSNB, complete, autosomal recessive" RELATED [OMIM:257270] +synonym: "congenital stationary night blindness type 1B" EXACT [MONDORULE:4] +synonym: "CSNB, complete, autosomal recessive" RELATED [] synonym: "CSNB1B" EXACT ABBREVIATION [DOID:0110865, MONDO:Lexical, OMIM:257270] synonym: "GRM6 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "night blindness, congenital stationary (complete), 1B, autosomal recessive" EXACT [OMIM:257270, OMIM:genemap2] -synonym: "night blindness, congenital stationary, complete, autosomal recessive" RELATED [OMIM:257270] -synonym: "night blindness, congenital stationary, type 1B" RELATED [MONDO:Lexical, OMIM:257270] +synonym: "night blindness, congenital stationary (complete), 1B, autosomal recessive" EXACT [] +synonym: "night blindness, congenital stationary, complete, autosomal recessive" RELATED [] +synonym: "night blindness, congenital stationary, type 1B" RELATED [MONDO:Lexical] xref: DOID:0110865 {source="MONDO:equivalentTo"} xref: GARD:15212 {source="MONDO:GARD"} xref: MEDGEN:342484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -212376,13 +212409,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BUB1B mosaic variegated aneuploidy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MOSAIC variegated aneuploidy syndrome 1" RELATED [OMIM:257300] -synonym: "mosaic variegated aneuploidy syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:257300] +synonym: "MOSAIC variegated aneuploidy syndrome 1" RELATED [] +synonym: "mosaic variegated aneuploidy syndrome 1" EXACT CLINGEN_LABEL [DOID:0080141, MONDO:Lexical, OMIM:257300] synonym: "mosaic variegated aneuploidy syndrome caused by mutation in BUB1B" EXACT [MONDO:design_pattern] -synonym: "Mosaic variegated aneuploidy syndrome type 1" EXACT [MONDORULE:1, OMIM:257300] -synonym: "mosaic variegated aneuploidy syndrome type 1" EXACT [DOID:0080141, MONDORULE:1] -synonym: "MVA syndrome" RELATED [OMIM:257300] -synonym: "MVA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257300] +synonym: "Mosaic variegated aneuploidy syndrome type 1" EXACT [MONDORULE:1] +synonym: "mosaic variegated aneuploidy syndrome type 1" EXACT [MONDORULE:1] +synonym: "MVA syndrome" RELATED [] +synonym: "MVA1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080141 {source="MONDO:equivalentTo"} xref: MEDGEN:338026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:257300 {source="DOID:0080141", source="MONDO:equivalentTo", source="Orphanet:1052"} @@ -212403,15 +212436,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:89844"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LIS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257320] +synonym: "LIS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "lissencephaly 2" EXACT [DOID:0060902, MONDO:Lexical, OMIM:257320] -synonym: "lissencephaly 2 (Norman-Roberts type)" EXACT [OMIM:257320, OMIM:genemap2] +synonym: "lissencephaly 2 (Norman-Roberts type)" EXACT [] synonym: "lissencephaly syndrome Norman-Roberts type" RELATED [GARD:0003277] -synonym: "lissencephaly syndrome, Norman-Roberts type" EXACT [DOID:0060902, OMIM:257320] -synonym: "lissencephaly type 2" RELATED EXCLUDE [MONDORULE:1, OMIM:257320] +synonym: "lissencephaly syndrome, Norman-Roberts type" EXACT [DOID:0060902, OMIM:257320, Orphanet:89844] +synonym: "lissencephaly type 2" RELATED EXCLUDE [MONDORULE:1] synonym: "Microlissencephaly type A" EXACT [Orphanet:89844] synonym: "Norman Roberts lissencephaly syndrome" RELATED [GARD:0003277] -synonym: "Norman-Roberts syndrome" EXACT CLINGEN_LABEL [OMIM:257320] +synonym: "Norman-Roberts syndrome" EXACT CLINGEN_LABEL [DOID:0060902, OMIM:257320] xref: DOID:0060902 {source="MONDO:equivalentTo"} xref: GARD:16780 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:89844", source="Orphanet:89844/attributed", source="Orphanet:89844/ntbt", source="DOID:0060902"} @@ -212437,12 +212470,12 @@ subset: gard_rare {source="GARD:6234", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cystic hygroma" EXACT [DOID:3081, NCIT:C3724] -synonym: "cystic hygroma, fetal" RELATED [OMIM:257350] +synonym: "cystic hygroma, fetal" RELATED [] synonym: "cystic hygroma, foetal" RELATED OMO:0003005 [] -synonym: "cystic lymphangioma" EXACT [GARD:0006234, NCIT:C3724] +synonym: "cystic lymphangioma" EXACT [DOID:3081, GARD:0006234, NCIT:C3724] synonym: "hygroma" EXACT [NCIT:C3724] synonym: "macrocystic lymphatic malformation" RELATED [GARD:0006234] -synonym: "nuchal bleb, familial" RELATED [OMIM:257350] +synonym: "nuchal bleb, familial" RELATED [] xref: DOID:3081 {source="MONDO:equivalentTo", source="EFO:1000888"} xref: EFO:1000888 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6234 {source="MONDO:GARD"} @@ -212465,7 +212498,7 @@ is_a: MONDO:0002013 {source="DOID:3081", source="NCIT:C3724"} ! lymphangioma id: MONDO:0009762 name: nystagmus, congenital, autosomal recessive synonym: "Nystagmus, congenital motor, autosomal recessive" RELATED [GARD:0009609] -synonym: "nystagmus, congenital, autosomal recessive" EXACT [OMIM:257400] +synonym: "nystagmus, congenital, autosomal recessive" EXACT [] xref: DOID:0111797 {source="MONDO:equivalentTo"} xref: MEDGEN:462921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564938 {source="MONDO:equivalentTo"} @@ -212482,7 +212515,7 @@ name: obesity-hypoventilation syndrome def: "Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately." [MESH:D010845] subset: otar {source="MONDO:OTAR"} synonym: "obesity-hypoventilation syndrome" EXACT [OMIM:257500] -synonym: "Pickwickian syndrome" RELATED [OMIM:257500] +synonym: "Pickwickian syndrome" RELATED [] xref: EFO:1001382 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:786.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:18472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -212507,12 +212540,12 @@ synonym: "Cogan syndrome type 2" RELATED [] synonym: "Cogan's syndrome type 2" RELATED [GARD:0000016] synonym: "COMA" RELATED ABBREVIATION [GARD:0000016] synonym: "congenital oculomotor apraxia" RELATED [GARD:0000016] -synonym: "ocular motor apraxia" RELATED [OMIM:257550] +synonym: "ocular motor apraxia" RELATED [] synonym: "oculomotor apraxia Cogan type" RELATED [GARD:0000016] synonym: "oculomotor apraxia, Cogan type" EXACT [OMIM:257550, Orphanet:1125] -synonym: "oculomotor apraxia, congenital, Cogan-type" EXACT [OMIM:257550, OMIM:genemap2] +synonym: "oculomotor apraxia, congenital, Cogan-type" EXACT [] synonym: "saccade initiation failure congenital" RELATED [GARD:0000016] -synonym: "saccade initiation failure, congenital" RELATED [OMIM:257550] +synonym: "saccade initiation failure, congenital" RELATED [] xref: DOID:0080849 {source="MONDO:equivalentTo"} xref: GARD:16 {source="MONDO:GARD"} xref: ICD10CM:H51.8 {source="Orphanet:1125/ntbt", source="Orphanet:1125", source="Orphanet:1125/index"} @@ -212568,10 +212601,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cross syndrome" EXACT [GARD:0000105, OMIM:257800, Orphanet:2719] synonym: "hypopigmentation oculocerebral syndrome Cross type" RELATED [GARD:0000105] -synonym: "Kramer syndrome" RELATED [GARD:0000105, OMIM:257800] +synonym: "Kramer syndrome" RELATED [GARD:0000105] synonym: "oculocerebral hypopigmentation syndrome" RELATED [GARD:0000105] -synonym: "Oculocerebral Syndrome with Hypopigmentation" EXACT [NORD:1520] -synonym: "oculocerebral syndrome with hypopigmentation" RELATED [OMIM:257800] +synonym: "Oculocerebral Syndrome with Hypopigmentation" EXACT [NORD:1520, OMIM:257800] +synonym: "oculocerebral syndrome with hypopigmentation" RELATED [] xref: GARD:105 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:2719/ntbt", source="Orphanet:2719/inclusion", source="Orphanet:2719"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -212594,10 +212627,10 @@ subset: rare synonym: "autosomal recessive oculodentodigital dysplasia" EXACT [MONDO:design_pattern] synonym: "oculodentodigital dysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:257850] synonym: "oculodentoosseous dysplasia recessive" RELATED [GARD:0004045] -synonym: "oculodentoosseous dysplasia, autosomal recessive" RELATED [OMIM:257850] -synonym: "ODDD, autosomal recessive" RELATED [OMIM:257850] +synonym: "oculodentoosseous dysplasia, autosomal recessive" RELATED [] +synonym: "ODDD, autosomal recessive" RELATED [] synonym: "ODOD recessive" RELATED [GARD:0004045] -synonym: "ODOD, autosomal recessive" RELATED [OMIM:257850] +synonym: "ODOD, autosomal recessive" RELATED [] xref: GARD:15213 {source="MONDO:GARD"} xref: MEDGEN:412708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567605 {source="MONDO:equivalentTo"} @@ -212622,9 +212655,9 @@ subset: orphanet_rare {source="Orphanet:2714"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "oculo-palato-cerebral dwarfism" EXACT [Orphanet:2714] -synonym: "oculopalatocerebral dwarfism" RELATED [OMIM:257910] -synonym: "oculopalatocerebral syndrome" RELATED [OMIM:257910] -synonym: "OPC dwarfism" RELATED [OMIM:257910] +synonym: "oculopalatocerebral dwarfism" RELATED [] +synonym: "oculopalatocerebral syndrome" RELATED [] +synonym: "OPC dwarfism" RELATED [] xref: GARD:16606 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2714/attributed", source="Orphanet:2714/ntbt", source="Orphanet:2714"} xref: MEDGEN:338025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -212645,16 +212678,16 @@ subset: gard_rare {source="GARD:4049", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3MC syndrome 1" EXACT [MONDO:Lexical, OMIM:257920] +synonym: "3MC syndrome 1" EXACT [DOID:0060575, MONDO:Lexical, OMIM:257920] synonym: "3MC syndrome caused by mutation in MASP1" EXACT [MONDO:design_pattern] -synonym: "3MC syndrome type 1" EXACT [DOID:0060575, MONDORULE:1] -synonym: "3Mc syndrome type 1" EXACT [MONDORULE:1, OMIM:257920] -synonym: "3MC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257920] -synonym: "craniosynostosis with 51D anomalies" RELATED [OMIM:257920] +synonym: "3MC syndrome type 1" EXACT [MONDORULE:1] +synonym: "3Mc syndrome type 1" EXACT [MONDORULE:1] +synonym: "3MC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "craniosynostosis with 51D anomalies" RELATED [] synonym: "MASP1 3MC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Michels syndrome" RELATED [OMIM:257920] -synonym: "Michels syndrome, formerly" RELATED [OMIM:257920] -synonym: "oculopalatoskeletal syndrome" RELATED [OMIM:257920] +synonym: "Michels syndrome" RELATED [] +synonym: "Michels syndrome, formerly" RELATED [] +synonym: "oculopalatoskeletal syndrome" RELATED [] xref: DOID:0060575 {source="MONDO:equivalentTo"} xref: EFO:1001978 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:4049 {source="MONDO:GARD"} @@ -212680,8 +212713,8 @@ subset: orphanet_rare {source="Orphanet:2718"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cecato de Lima-Pinheiro syndrome" EXACT [Orphanet:2718] -synonym: "oculotrichodysplasia" EXACT [MONDO:Lexical, OMIM:257960] -synonym: "OTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:257960] +synonym: "oculotrichodysplasia" EXACT [icd11.foundation:1202969811, MONDO:Lexical, OMIM:257960, Orphanet:2718] +synonym: "OTD" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16607 {source="MONDO:GARD"} xref: icd11.foundation:1202969811 {source="MONDO:equivalentTo"} xref: MEDGEN:340517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -212705,8 +212738,8 @@ subset: orphanet_rare {source="Orphanet:2715"} subset: rare synonym: "absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy" RELATED [GARD:0004050] synonym: "absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy" RELATED DEPRECATED [GARD:0004050] -synonym: "oculorenocerebellar syndrome" EXACT [OMIM:257970] -synonym: "ORC syndrome" RELATED [OMIM:257970] +synonym: "oculorenocerebellar syndrome" EXACT [OMIM:257970, Orphanet:2715] +synonym: "ORC syndrome" RELATED [] xref: GARD:4050 {source="MONDO:GARD"} xref: MEDGEN:340516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537739 {source="MONDO:equivalentTo"} @@ -212728,9 +212761,9 @@ subset: ordo_disorder {source="Orphanet:2721"} subset: orphanet_rare {source="Orphanet:2721"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectodermal dysplasia" BROAD [OMIM:257980] -synonym: "odontoonychodermal dysplasia" RELATED [MONDO:Lexical, OMIM:257980] -synonym: "OODD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:257980, Orphanet:2721] +synonym: "ectodermal dysplasia" BROAD [] +synonym: "odontoonychodermal dysplasia" RELATED [MONDO:Lexical] +synonym: "OODD" EXACT ABBREVIATION [icd11.foundation:1256237872, MONDO:Lexical, OMIM:257980, Orphanet:2721] xref: GARD:4054 {source="MONDO:GARD"} xref: ICD10CM:Q82.4 {source="Orphanet:2721", source="Orphanet:2721/attributed", source="Orphanet:2721/ntbt"} xref: icd11.foundation:1256237872 {source="MONDO:equivalentTo"} @@ -212755,16 +212788,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93929"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cloacal exstrophy" EXACT [MONDO:ambiguous] +synonym: "cloacal exstrophy" EXACT [DOID:0080175, icd11.foundation:2004612103, MONDO:ambiguous, Orphanet:93929] synonym: "cloacal exstrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cloacal exstrophy sequence" RELATED [GARD:0004080] -synonym: "OEIS complex" RELATED [OMIM:258040, Orphanet:93929] -synonym: "OEIS syndrome" RELATED [NCIT:C99142] +synonym: "OEIS complex" RELATED [] +synonym: "OEIS syndrome" RELATED [] synonym: "omphalocele - cloacal exstrophy - imperforate anus - spinal defect" RELATED [GARD:0004080] synonym: "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects" RELATED [GARD:0004080] synonym: "omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex" RELATED [GARD:0004080] synonym: "omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome" EXACT [Orphanet:93929] -synonym: "omphalocele-exstrophy-imperforate anus-spinal defects" RELATED [OMIM:258040] +synonym: "omphalocele-exstrophy-imperforate anus-spinal defects" RELATED [] xref: DOID:0080175 {source="MONDO:equivalentTo"} xref: GARD:4080 {source="MONDO:GARD"} xref: HP:0010475 {source="MONDO:otherHierarchy"} @@ -212798,10 +212831,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "congenital stationary night blindness Oguchi type 1" EXACT [DOID:0110712] synonym: "CSNBO1" EXACT ABBREVIATION [DOID:0110712] -synonym: "night blindness, congenital stationary, Oguchi type 1" RELATED [OMIM:258100] -synonym: "Oguchi disease 1" RELATED [OMIM:258100] +synonym: "night blindness, congenital stationary, Oguchi type 1" RELATED [] +synonym: "Oguchi disease 1" RELATED [] synonym: "Oguchi disease caused by mutation in SAG" EXACT [MONDO:design_pattern] -synonym: "Oguchi disease type 1" EXACT [MONDORULE:1, OMIM:258100] +synonym: "Oguchi disease type 1" EXACT [MONDORULE:1] synonym: "SAG Oguchi disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110712 {source="MONDO:equivalentTo"} xref: MEDGEN:1645330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -212820,10 +212853,10 @@ name: spermatogenic failure 1 subset: gard_rare {source="GARD:15214", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Oligochiasmatic infertility" RELATED [OMIM:258150] -synonym: "Oligosynaptic infertility" RELATED [OMIM:258150] -synonym: "spermatogenic failure 1" EXACT [MONDO:Lexical, OMIM:258150] -synonym: "SPGF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258150] +synonym: "Oligochiasmatic infertility" RELATED [] +synonym: "Oligosynaptic infertility" RELATED [] +synonym: "spermatogenic failure 1" EXACT [DOID:0070188, MONDO:Lexical, OMIM:258150] +synonym: "SPGF1" EXACT ABBREVIATION [DOID:0070188, MONDO:Lexical, OMIM:258150] xref: DOID:0070188 {source="MONDO:equivalentTo"} xref: GARD:15214 {source="MONDO:GARD"} xref: MEDGEN:140793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -212846,9 +212879,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2920"} subset: orphanet_rare {source="Orphanet:2920"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Oliver syndrome" EXACT [OMIM:258200] -synonym: "postaxial polydactyly and intellectual disability" RELATED [OMIM:258200] -synonym: "postaxial polydactyly and mental retardation" RELATED DEPRECATED [OMIM:258200] +synonym: "Oliver syndrome" EXACT [icd11.foundation:2072460929, OMIM:258200, Orphanet:2920] +synonym: "postaxial polydactyly and intellectual disability" RELATED [] +synonym: "postaxial polydactyly and mental retardation" RELATED DEPRECATED [] synonym: "postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:2920] xref: GARD:4069 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:2920", source="Orphanet:2920/attributed", source="Orphanet:2920/ntbt"} @@ -212867,8 +212900,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4069/oliver- [Term] id: MONDO:0009778 name: olivopontocerebellar atrophy II, autosomal recessive -synonym: "olivopontocerebellar atrophy II, autosomal recessive" EXACT [OMIM:258300] -synonym: "OPCA II, Fickler-Winkler type" RELATED [OMIM:258300] +synonym: "olivopontocerebellar atrophy II, autosomal recessive" EXACT [] +synonym: "OPCA II, Fickler-Winkler type" RELATED [] xref: MEDGEN:376758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564930 {source="MONDO:equivalentTo"} xref: OMIM:258300 {source="MONDO:equivalentTo"} @@ -212884,19 +212917,19 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93329"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive omodysplasia" EXACT CLINGEN_LABEL [] +synonym: "autosomal recessive omodysplasia" EXACT CLINGEN_LABEL [icd11.foundation:350802889, Orphanet:93329] synonym: "micromelic dysplasia congenita with dislocation of radius" RELATED [GARD:0004076] -synonym: "micromelic dysplasia, congenital, with dislocation of radius" RELATED [OMIM:258315] +synonym: "micromelic dysplasia, congenital, with dislocation of radius" RELATED [] synonym: "micromelic dysplasia-dislocation of radius syndrome" EXACT [Orphanet:93329] -synonym: "OMOD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258315] -synonym: "omodysplasia 1" RELATED [MONDO:Lexical, OMIM:258315] +synonym: "OMOD1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "omodysplasia 1" RELATED [MONDO:Lexical] synonym: "omodysplasia autosomal recessive" RELATED [GARD:0004076] synonym: "omodysplasia generalised form" RELATED OMO:0003005 [] synonym: "omodysplasia generalized form" RELATED [GARD:0004076] -synonym: "omodysplasia type 1" EXACT [MONDORULE:1, OMIM:258315] +synonym: "omodysplasia type 1" EXACT [MONDORULE:1] synonym: "omodysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:258315] synonym: "omodysplasia, generalised form" RELATED OMO:0003005 [] -synonym: "omodysplasia, generalized form" RELATED [OMIM:258315] +synonym: "omodysplasia, generalized form" RELATED [] xref: DOID:0080844 {source="MONDO:equivalentTo"} xref: GARD:4076 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:93329/attributed", source="Orphanet:93329/ntbt", source="Orphanet:93329"} @@ -212924,10 +212957,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:2736"} subset: orphanet_rare {source="Orphanet:2736"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cleft palate-omphalocele syndrome, lethal" RELATED [OMIM:258320] +synonym: "cleft palate-omphalocele syndrome, lethal" RELATED [] synonym: "Czeizel syndrome" EXACT [Orphanet:2736] synonym: "omphalocele cleft palate syndrome lethal" RELATED [GARD:0004079] -synonym: "omphalocele-cleft palate syndrome, lethal" RELATED [OMIM:258320] +synonym: "omphalocele-cleft palate syndrome, lethal" RELATED [] xref: GARD:4079 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2736/attributed", source="Orphanet:2736/ntbt", source="Orphanet:2736"} xref: MEDGEN:376757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -212947,7 +212980,7 @@ name: Onychotrichodysplasia and neutropenia subset: gard_rare {source="GARD:10161", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "onycho-tricho-dysplasia-neutropenia syndrome" EXACT [Orphanet:2739] +synonym: "onycho-tricho-dysplasia-neutropenia syndrome" EXACT [] synonym: "Onychotrichodysplasia and neutropenia" EXACT [OMIM:258360] xref: GARD:10161 {source="MONDO:GARD"} xref: MEDGEN:340512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -212978,12 +213011,12 @@ synonym: "arPEO" RELATED [GARD:0001191] synonym: "autosomal recessive progressive external ophthalmoplegia" RELATED [GARD:0001191] synonym: "autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG" EXACT [MONDO:design_pattern] synonym: "cerebellar ataxia infantile with progressive external ophthalmoplegia" RELATED [GARD:0001191] -synonym: "PEOB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258450] +synonym: "PEOB1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "POLG autosomal recessive progressive external ophthalmoplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "progressive external ophthalmoplegia with cerebellar ataxia infantile" RELATED [GARD:0001191] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:258450] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:258450] -synonym: "progressive external ophthalmoplegia, autosomal recessive 1" RELATED [OMIM:258450] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1" EXACT [MONDORULE:1] +synonym: "progressive external ophthalmoplegia, autosomal recessive 1" RELATED [] xref: DOID:0111522 {source="MONDO:equivalentTo"} xref: GARD:15215 {source="MONDO:GARD"} xref: MEDGEN:897191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -213018,9 +213051,9 @@ subset: ordo_disorder {source="Orphanet:2746"} subset: orphanet_rare {source="Orphanet:2746"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OPSISMODYSPLASIA" RELATED ABBREVIATION [OMIM:258480] -synonym: "opsismodysplasia" EXACT [MONDO:Lexical, OMIM:258480] -synonym: "OPSMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258480] +synonym: "OPSISMODYSPLASIA" RELATED ABBREVIATION [] +synonym: "opsismodysplasia" EXACT [icd11.foundation:2147268863, MONDO:Lexical, OMIM:258480, Orphanet:2746] +synonym: "OPSMD" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:4098 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:2746", source="Orphanet:2746/attributed", source="Orphanet:2746/ntbt"} xref: icd11.foundation:2147268863 {source="MONDO:equivalentTo"} @@ -213043,9 +213076,9 @@ subset: gard_rare {source="GARD:10200", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OPA6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258500] -synonym: "optic atrophy 6" EXACT [MONDO:Lexical, OMIM:258500] -synonym: "optic atrophy, congenital or early infantile, autosomal recessive" RELATED [OMIM:258500] +synonym: "OPA6" EXACT ABBREVIATION [DOID:0111435, MONDO:Lexical, OMIM:258500] +synonym: "optic atrophy 6" EXACT [DOID:0111435, MONDO:Lexical, OMIM:258500] +synonym: "optic atrophy, congenital or early infantile, autosomal recessive" RELATED [] xref: DOID:0111435 {source="MONDO:equivalentTo"} xref: GARD:10200 {source="MONDO:GARD"} xref: MEDGEN:338012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -213068,27 +213101,27 @@ subset: rare synonym: "3-alpha methylglutaconic aciduria type III" RELATED [GARD:0005663] synonym: "3-methylglutaconic aciduria caused by mutation in OPA3" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type III" EXACT [DOID:0110004] -synonym: "3-methylglutaconic aciduria, type 3" RELATED [OMIM:258501] -synonym: "3-methylglutaconic aciduria, type III" RELATED [MONDO:Lexical, OMIM:258501] +synonym: "3-methylglutaconic aciduria, type 3" RELATED [] +synonym: "3-methylglutaconic aciduria, type III" RELATED [MONDO:Lexical] synonym: "autosomal recessive optic atrophy plus syndrome" EXACT [DOID:0110004, Orphanet:67047] -synonym: "autosomal recessive optic atrophy type 3" EXACT [DOID:0110004, Orphanet:67047] -synonym: "Costeff optic atrophy syndrome" EXACT [DOID:0110004, Orphanet:67047] -synonym: "Costeff syndrome" EXACT [DOID:0110004, OMIM:258501, Orphanet:67047] -synonym: "infantile optic atrophy with chorea and spastic paraplegia" EXACT [DOID:0110004, Orphanet:67047] +synonym: "autosomal recessive optic atrophy type 3" EXACT [DOID:0110004, icd11.foundation:535412248, Orphanet:67047] +synonym: "Costeff optic atrophy syndrome" EXACT [DOID:0110004, icd11.foundation:535412248, Orphanet:67047] +synonym: "Costeff syndrome" EXACT [DOID:0110004, icd11.foundation:535412248, OMIM:258501, Orphanet:67047] +synonym: "infantile optic atrophy with chorea and spastic paraplegia" EXACT [DOID:0110004, icd11.foundation:535412248, Orphanet:67047] synonym: "Iraqi Jewish optic atrophy plus" RELATED [GARD:0005663] -synonym: "Iraqi-Jewish 'optic atrophy plus'" RELATED [OMIM:258501] +synonym: "Iraqi-Jewish 'optic atrophy plus'" RELATED [] synonym: "Iraqi-Jewish optic atrophy plus" EXACT [DOID:0110004] synonym: "MGA type III" RELATED [GARD:0005663] -synonym: "MGA, type 3" RELATED [OMIM:258501] +synonym: "MGA, type 3" RELATED [] synonym: "MGA3" EXACT ABBREVIATION [DOID:0110004, Orphanet:67047] -synonym: "MGCA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:258501] +synonym: "MGCA3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "OPA3 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OPA3 defect" BROAD [GARD:0005663] -synonym: "OPA3, autosomal recessive" RELATED [OMIM:258501] -synonym: "optic atrophy 3, autosomal recessive" RELATED [OMIM:258501] +synonym: "OPA3, autosomal recessive" RELATED [] +synonym: "optic atrophy 3, autosomal recessive" RELATED [] synonym: "optic atrophy infantile with chorea and spastic paraplegia" RELATED [GARD:0005663] -synonym: "optic atrophy plus syndrome" RELATED [OMIM:258501] -synonym: "optic atrophy, infantile, with chorea and spastic paraplegia" RELATED [OMIM:258501] +synonym: "optic atrophy plus syndrome" RELATED [] +synonym: "optic atrophy, infantile, with chorea and spastic paraplegia" RELATED [] xref: DOID:0110004 {source="MONDO:equivalentTo"} xref: GARD:5663 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:67047/attributed", source="Orphanet:67047/ntbt", source="DOID:0110004", source="Orphanet:67047"} @@ -213117,11 +213150,11 @@ relationship: disease_shares_features_of MONDO:0010699 ! Charcot-Marie-Tooth dis id: MONDO:0009789 name: nonarteritic anterior ischemic optic neuropathy, susceptibility to subset: predisposition -synonym: "Naion, susceptibility to" RELATED [OMIM:258660] +synonym: "Naion, susceptibility to" RELATED [] synonym: "nonarteritic anterior ischemic optic neuropathy, susceptibility to" EXACT [OMIM:258660] -synonym: "optic neuropathy, anterior ischemic, susceptibility to" RELATED [OMIM:258660] +synonym: "optic neuropathy, anterior ischemic, susceptibility to" RELATED [] synonym: "susceptibility to nonarteritic anterior ischaemic optic neuropathy" RELATED OMO:0003005 [] -synonym: "susceptibility to nonarteritic anterior ischemic optic neuropathy" RELATED [OMIM:258660] +synonym: "susceptibility to nonarteritic anterior ischemic optic neuropathy" RELATED [] xref: MEDGEN:338294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:258660 {source="MONDO:equivalentTo"} xref: UMLS:C1847711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338294"} @@ -213165,7 +213198,7 @@ subset: orphanet_rare {source="Orphanet:2272"} subset: rare synonym: "Clayton Smith-Donnai syndrome" EXACT [Orphanet:2272] synonym: "ichthyosis tapered fingers midline groove up" RELATED [GARD:0002960] -synonym: "oral and digital anomalies with ichthyosis" RELATED [OMIM:258840] +synonym: "oral and digital anomalies with ichthyosis" RELATED [] synonym: "unusual facies, digital abnormalities, and ichthyosis" RELATED [GARD:0002960] xref: GARD:2960 {source="MONDO:GARD"} xref: MEDGEN:342457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -213190,17 +213223,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:2752"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "OFD syndrome 3" RELATED [GARD:0010518] -synonym: "OFD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258850, Orphanet:2752] -synonym: "Ofds 3" RELATED [OMIM:258850] +synonym: "OFD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258850] +synonym: "Ofds 3" RELATED [] synonym: "oral facial digital syndrome 3" RELATED [GARD:0010518] synonym: "oral facial digital syndrome type 3" RELATED [GARD:0010518] -synonym: "oral-facial-digital syndrome type 3" EXACT [Orphanet:2752] -synonym: "oral-Facial-digital syndrome, type 3" RELATED [OMIM:258850] +synonym: "oral-facial-digital syndrome type 3" EXACT [] +synonym: "oral-Facial-digital syndrome, type 3" RELATED [] synonym: "orofaciodigital syndrome 3" RELATED [GARD:0010518] -synonym: "orofaciodigital syndrome III" EXACT [MONDO:Lexical, OMIM:258850] -synonym: "orofaciodigital syndrome type 3" RELATED [Orphanet:2752] -synonym: "orofaciodigital syndrome type III" EXACT [DOID:0060373, MONDORULE:3] -synonym: "Sugarman syndrome" EXACT [DOID:0060373, OMIM:258850, Orphanet:2752] +synonym: "orofaciodigital syndrome III" EXACT [DOID:0060373, MONDO:Lexical] +synonym: "orofaciodigital syndrome type 3" RELATED [] +synonym: "orofaciodigital syndrome type III" EXACT [MONDORULE:3] +synonym: "Sugarman syndrome" EXACT [DOID:0060373, OMIM:258850] xref: DOID:0060373 {source="MONDO:equivalentTo"} xref: GARD:10518 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:2752/attributed", source="Orphanet:2752/ntbt", source="Orphanet:2752"} @@ -213226,21 +213259,21 @@ subset: ordo_malformation_syndrome {source="Orphanet:2753"} subset: orphanet_rare {source="Orphanet:2753"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Baraitser-Burn syndrome" EXACT [DOID:0060374, Orphanet:2753] +synonym: "Baraitser-Burn syndrome" EXACT [DOID:0060374, OMIM:258860, Orphanet:2753] synonym: "Mohr-Majewski syndrome" EXACT [OMIM:258860, Orphanet:2753] synonym: "OFD syndrome 4" RELATED [GARD:0000816] -synonym: "Ofd syndrome with tibial defects" RELATED [OMIM:258860] -synonym: "Ofd syndrome, Baraitser-Burn type" RELATED [OMIM:258860] +synonym: "Ofd syndrome with tibial defects" RELATED [] +synonym: "Ofd syndrome, Baraitser-Burn type" RELATED [] synonym: "OFD4" EXACT ABBREVIATION [DOID:0060374, MONDO:Lexical, OMIM:258860, Orphanet:2753] -synonym: "Ofds 4" RELATED [OMIM:258860] +synonym: "Ofds 4" RELATED [] synonym: "oral facial digital syndrome 4" RELATED [GARD:0000816] synonym: "oral facial digital syndrome type 4" RELATED [GARD:0000816] synonym: "oral-facial-digital syndrome type 4" EXACT [Orphanet:2753] -synonym: "oral-Facial-digital syndrome, type 4" RELATED [OMIM:258860] +synonym: "oral-Facial-digital syndrome, type 4" RELATED [] synonym: "orofaciodigital syndrome 4" RELATED [GARD:0000816] -synonym: "orofaciodigital syndrome IV" EXACT [MONDO:Lexical, OMIM:258860] -synonym: "orofaciodigital syndrome type 4" EXACT [MONDORULE:1, OMIM:258860] -synonym: "orofaciodigital syndrome type IV" EXACT [DOID:0060374, MONDORULE:3] +synonym: "orofaciodigital syndrome IV" EXACT [DOID:0060374, MONDO:Lexical] +synonym: "orofaciodigital syndrome type 4" EXACT [MONDORULE:1, Orphanet:2753] +synonym: "orofaciodigital syndrome type IV" EXACT [MONDORULE:3] synonym: "orofaciodigital syndrome with tibial dysplasia" RELATED [GARD:0000816] xref: DOID:0060374 {source="MONDO:equivalentTo"} xref: GARD:816 {source="MONDO:GARD"} @@ -213273,17 +213306,17 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "OFD syndrome 9" RELATED [GARD:0010520] synonym: "OFD9" EXACT ABBREVIATION [DOID:0060382, MONDO:Lexical, OMIM:258865, Orphanet:141007] -synonym: "Ofds 9" RELATED [OMIM:258865] +synonym: "Ofds 9" RELATED [] synonym: "oral facial digital syndrome 9" RELATED [GARD:0010520] synonym: "oral facial digital syndrome type 9" RELATED [GARD:0010520] synonym: "oral-facial-digital syndrome type 9" EXACT [Orphanet:141007] -synonym: "oral-Facial-digital syndrome with retinal abnormalities" RELATED [OMIM:258865] -synonym: "oral-facial-digital syndrome with retinal abnormalities" EXACT [Orphanet:141007] -synonym: "oral-Facial-digital syndrome, type 9" RELATED [OMIM:258865] +synonym: "oral-Facial-digital syndrome with retinal abnormalities" RELATED [] +synonym: "oral-facial-digital syndrome with retinal abnormalities" EXACT [OMIM:258865, Orphanet:141007] +synonym: "oral-Facial-digital syndrome, type 9" RELATED [] synonym: "orofaciodigital syndrome 9" RELATED [GARD:0010520] -synonym: "orofaciodigital syndrome IX" EXACT [MONDO:Lexical, OMIM:258865] -synonym: "orofaciodigital syndrome type 9" RELATED [Orphanet:141007] -synonym: "orofaciodigital syndrome type IX" EXACT [DOID:0060382, MONDORULE:3] +synonym: "orofaciodigital syndrome IX" EXACT [DOID:0060382, MONDO:Lexical] +synonym: "orofaciodigital syndrome type 9" RELATED [] +synonym: "orofaciodigital syndrome type IX" EXACT [MONDORULE:3] synonym: "orofaciodigital syndrome with retinal abnormalities" EXACT [DOID:0060382, OMIM:258865, Orphanet:141007] xref: DOID:0060382 {source="MONDO:equivalentTo"} xref: GARD:10520 {source="MONDO:GARD"} @@ -213313,23 +213346,24 @@ synonym: "Fuchs gyrate atrophy" RELATED [MESH:C538071] synonym: "Fuchs gyrate atrophy of the choroid and retina" RELATED [MESH:C538071] synonym: "GACR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:258870] synonym: "Girate atrophy of the retina" RELATED [GARD:0006556] -synonym: "gyrate atrophy" EXACT [GARD:0006556, https://github.com/monarch-initiative/mondo/issues/724, OMIM:258870] -synonym: "gyrate atrophy of choroid and retina" RELATED [MONDO:Lexical, OMIM:258870] -synonym: "gyrate atrophy of choroid and retina with or without ornithinemia" EXACT [OMIM:258870, OMIM:genemap2] +synonym: "gyrate atrophy" EXACT [DOID:1415, GARD:0006556, https://github.com/monarch-initiative/mondo/issues/724, NCIT:C84744, OMIM:258870] +synonym: "gyrate atrophy of choroid and retina" RELATED [MONDO:Lexical] +synonym: "gyrate atrophy of choroid and retina with or without ornithinemia" EXACT [] synonym: "gyrate atrophy of the choroid and/or retina" EXACT [DOID:1415] synonym: "gyrate atrophy of the retina" EXACT [DOID:1415] -synonym: "hoga" EXACT [Orphanet:414] +synonym: "HOGA" EXACT ABBREVIATION [Orphanet:414] +synonym: "hoga" EXACT [] synonym: "hyperornithinemia" EXACT [Orphanet:414] -synonym: "hyperornithinemia with gyrate atrophy of choroid and retina" RELATED [GARD:0006556, OMIM:258870] +synonym: "hyperornithinemia with gyrate atrophy of choroid and retina" RELATED [GARD:0006556] synonym: "hyperornithinemia-gyrate atrophy of choroid and retina syndrome" EXACT [GARD:0006556, Orphanet:414] synonym: "OAT deficiency" RELATED [GARD:0006556] -synonym: "Oat deficiency" RELATED [OMIM:258870] +synonym: "Oat deficiency" RELATED [] synonym: "OKT deficiency" RELATED [GARD:0006556] -synonym: "Okt deficiency" RELATED [OMIM:258870] +synonym: "Okt deficiency" RELATED [] synonym: "ornithine aminotransferase deficiency" EXACT CLINGEN_LABEL [GARD:0006556, OMIM:258870, Orphanet:414] -synonym: "ornithine Keto acid aminotransferase deficiency" RELATED [OMIM:258870] +synonym: "ornithine Keto acid aminotransferase deficiency" RELATED [] synonym: "ornithine ketoacid aminotransferase deficiency" RELATED [GARD:0006556] -synonym: "ornithine-Delta-aminotransferase deficiency" RELATED [OMIM:258870] +synonym: "ornithine-Delta-aminotransferase deficiency" RELATED [] synonym: "Ornithinemia" RELATED [GARD:0007272] synonym: "Ornithinemia with gyrate atrophy" EXACT [DOID:1415] xref: DOID:1415 {source="MONDO:equivalentTo"} @@ -213369,26 +213403,26 @@ subset: ordo_disorder {source="Orphanet:30"} subset: orphanet_rare {source="Orphanet:30"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Hereditary Orotic Aciduria" EXACT [NORD:1942] -synonym: "hereditary orotic aciduria" RELATED [Orphanet:30] -synonym: "OPRT and ODC deficiency" RELATED [OMIM:258900] +synonym: "Hereditary Orotic Aciduria" EXACT [icd11.foundation:449856959, NCIT:C98944, NORD:1942, Orphanet:30] +synonym: "hereditary orotic aciduria" RELATED [] +synonym: "OPRT and ODC deficiency" RELATED [] synonym: "orotate phosphoribosyltransferase and OMP decarboxylase deficiency" RELATED [GARD:0005429] -synonym: "orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency" RELATED [OMIM:258900] -synonym: "orotic aciduria" EXACT [OMIM:258900] -synonym: "orotic aciduria 1" RELATED [OMIM:258900] +synonym: "orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency" RELATED [] +synonym: "orotic aciduria" EXACT [DOID:0050833, OMIM:258900] +synonym: "orotic aciduria 1" RELATED [] synonym: "orotic aciduria II (formerly)" RELATED [GARD:0005429] synonym: "orotic aciduria type 1" RELATED [GARD:0005429] synonym: "orotic aciduria without megaloblastic Anaemia" RELATED OMO:0003005 [] -synonym: "orotic aciduria without megaloblastic Anemia" RELATED [OMIM:258900] -synonym: "oroticaciduria" EXACT [Orphanet:30] +synonym: "orotic aciduria without megaloblastic Anemia" RELATED [] +synonym: "oroticaciduria" EXACT [] synonym: "oroticaciduria 1" RELATED [GARD:0005429] synonym: "orotidylic decarboxylase deficiency" EXACT [Orphanet:30] -synonym: "orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency" RELATED [OMIM:258900] -synonym: "Ump synthase deficiency" RELATED [OMIM:258900] +synonym: "orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency" RELATED [] +synonym: "Ump synthase deficiency" RELATED [] synonym: "UMP synthtase deficiency" RELATED [GARD:0005429] synonym: "UMPS" RELATED ABBREVIATION [GARD:0005429] -synonym: "Umps deficiency" RELATED [OMIM:258900] -synonym: "uridine monophosphate synthase deficiency" RELATED [OMIM:258900] +synonym: "Umps deficiency" RELATED [] +synonym: "uridine monophosphate synthase deficiency" RELATED [] synonym: "uridine monophosphate synthetase deficiency" EXACT [Orphanet:30] xref: DOID:0050833 {source="MONDO:equivalentTo"} xref: GARD:5429 {source="MONDO:GARD"} @@ -213421,9 +213455,9 @@ subset: orphanet_rare {source="Orphanet:3042"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "intellectual disability-cataracts-calcified pinnae-myopathy syndrome" EXACT [Orphanet:3042] -synonym: "ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes" RELATED [OMIM:259050] +synonym: "ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes" RELATED [] synonym: "Primrose syndrome" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40006/, OMIM:259050, Orphanet:3042] -synonym: "PRIMS" RELATED ABBREVIATION [OMIM:259050] +synonym: "PRIMS" RELATED ABBREVIATION [] xref: GARD:4488 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3042/attributed", source="Orphanet:3042/ntbt", source="Orphanet:3042"} xref: MEDGEN:162911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -213456,8 +213490,8 @@ subset: gard_rare {source="GARD:15217", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Blount disease, adolescent" EXACT [OMIM:259200] -synonym: "Osteochondrosis deformans tibiae, adolescent" RELATED [OMIM:259200] -synonym: "tibia vara, adolescent" RELATED [OMIM:259200] +synonym: "Osteochondrosis deformans tibiae, adolescent" RELATED [] +synonym: "tibia vara, adolescent" RELATED [] xref: GARD:15217 {source="MONDO:GARD"} xref: MEDGEN:462922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:259200 {source="MONDO:equivalentTo"} @@ -213477,7 +213511,7 @@ subset: orphanet_rare {source="Orphanet:2769"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "osteodysplasia familial Anderson type" RELATED [GARD:0004136] -synonym: "osteodysplasia, familial, Anderson type" RELATED [OMIM:259250] +synonym: "osteodysplasia, familial, Anderson type" RELATED [] xref: GARD:4136 {source="MONDO:GARD"} xref: icd11.foundation:107132680 {source="MONDO:equivalentTo"} xref: MEDGEN:337990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -213517,7 +213551,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2772"} subset: orphanet_rare {source="Orphanet:2772"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "osteogenesis imperfecta congenita, microcephaly, and cataracts" RELATED [OMIM:259410] +synonym: "osteogenesis imperfecta congenita, microcephaly, and cataracts" RELATED [] xref: GARD:4139 {source="MONDO:GARD"} xref: ICD10CM:Q78.0 {source="Orphanet:2772/attributed", source="Orphanet:2772/ntbt", source="Orphanet:2772", source="MONDO:directSiblingOf"} xref: MEDGEN:337988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -213543,15 +213577,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "OI type 3" EXACT [Orphanet:216812] synonym: "OI type III" RELATED [GARD:0008695] -synonym: "OI, type 3" RELATED [OMIM:259420] -synonym: "OI3" EXACT ABBREVIATION [DOID:0110339] -synonym: "Oi3" RELATED [OMIM:259420] -synonym: "osteogenesis imperfecta type 3" EXACT CLINGEN_LABEL [] -synonym: "osteogenesis imperfecta type III" EXACT [DOID:0110339] +synonym: "OI, type 3" RELATED [] +synonym: "OI3" EXACT ABBREVIATION [DOID:0110339, OMIM:259420] +synonym: "Oi3" RELATED [] +synonym: "osteogenesis imperfecta type 3" EXACT CLINGEN_LABEL [DOID:0110339, icd11.foundation:629873920, Orphanet:216812] +synonym: "osteogenesis imperfecta type III" EXACT [DOID:0110339, NCIT:C99002] synonym: "osteogenesis imperfecta, progressively deforming with normal sclerae" RELATED [GARD:0008695] -synonym: "osteogenesis imperfecta, progressively deforming, with normal sclerae" RELATED [OMIM:259420] -synonym: "osteogenesis imperfecta, type 3" RELATED [OMIM:259420] -synonym: "osteogenesis imperfecta, type III" RELATED [OMIM:259420] +synonym: "osteogenesis imperfecta, progressively deforming, with normal sclerae" RELATED [] +synonym: "osteogenesis imperfecta, type 3" RELATED [] +synonym: "osteogenesis imperfecta, type III" RELATED [] synonym: "progressive deforming osteogenesis imperfecta" EXACT [Orphanet:216812] synonym: "progressively deforming OI" RELATED [GARD:0008695] synonym: "progressively deforming osteogenesis imperfecta with normal sclera" EXACT [DOID:0110339] @@ -213581,14 +213615,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "OI 9" RELATED [GARD:0010619] synonym: "OI type IX" RELATED [GARD:0010619] -synonym: "OI, type 9" RELATED [OMIM:259440] +synonym: "OI, type 9" RELATED [] synonym: "OI9" EXACT ABBREVIATION [DOID:0110349, MONDO:Lexical, OMIM:259440] synonym: "osteogenesis imperfecta caused by mutation in PPIB" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta sillence type II/III without abnormality of type I collagen" RELATED [GARD:0010619] -synonym: "osteogenesis imperfecta type 9" EXACT CLINGEN_LABEL [] +synonym: "osteogenesis imperfecta type 9" EXACT CLINGEN_LABEL [DOID:0110349] synonym: "osteogenesis imperfecta type IX" EXACT [DOID:0110349] -synonym: "osteogenesis imperfecta, type 9" RELATED [OMIM:259440] -synonym: "osteogenesis imperfecta, type IX" RELATED [MONDO:Lexical, OMIM:259440] +synonym: "osteogenesis imperfecta, type 9" RELATED [] +synonym: "osteogenesis imperfecta, type IX" RELATED [MONDO:Lexical] synonym: "PPIB osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110349 {source="MONDO:equivalentTo"} xref: GARD:10619 {source="MONDO:GARD"} @@ -213615,12 +213649,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arthrogryposis-like disorder" EXACT [OMIM:259450] -synonym: "BRKS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259450] +synonym: "BRKS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Bruck syndrome 1" EXACT [MONDO:Lexical, OMIM:259450] synonym: "Bruck syndrome caused by mutation in FKBP10" EXACT [MONDO:design_pattern] -synonym: "Bruck syndrome type 1" EXACT [MONDORULE:1, OMIM:259450] +synonym: "Bruck syndrome type 1" EXACT [MONDORULE:1] synonym: "FKBP10 Bruck syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Kuskokwim disease" RELATED [OMIM:259450] +synonym: "Kuskokwim disease" RELATED [] xref: MEDGEN:342431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:259450 {source="MONDO:equivalentTo"} xref: Orphanet:2771 {source="OMIM:259450"} @@ -213637,14 +213671,14 @@ id: MONDO:0009807 name: osteosarcoma def: "A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs." [NCIT:C9145] subset: otar {source="MONDO:OTAR"} -synonym: "bone tissue neoplasm" BROAD [DOID:3347] -synonym: "osteogenic sarcoma" EXACT [DOID:3347, NCIT:C9145, OMIM:259500, Orphanet:668] +synonym: "bone tissue neoplasm" BROAD [] +synonym: "osteogenic sarcoma" EXACT [DOID:3347, NCIT:C9145] synonym: "osteoid sarcoma" EXACT [DOID:3347, MONDO:patterns/location] -synonym: "osteosarcoma" EXACT [MONDO:ambiguous, NCIT:C9145] +synonym: "osteosarcoma" EXACT [DOID:3347, MONDO:ambiguous, NCIT:C9145] synonym: "osteosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "osteosarcoma, malignant" EXACT [NCIT:C9145] synonym: "sarcoma of osteoid" EXACT [MONDO:patterns/sarcoma] -synonym: "skeletal sarcoma" RELATED EXCLUDE [DOID:3347] +synonym: "skeletal sarcoma" RELATED EXCLUDE [] xref: DOID:3347 {source="MONDO:equivalentTo", source="EFO:0000637"} xref: EFO:0000637 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0002669 {source="MONDO:otherHierarchy"} @@ -213692,16 +213726,16 @@ subset: gard_rare {source="GARD:13743", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Al-Aqeel Sewairi syndrome" EXACT [OMIM:259600] -synonym: "MONA" EXACT [MONDO:Lexical, OMIM:259600] +synonym: "MONA" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C123437, OMIM:259600] synonym: "MONA, MMP2-related" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:36779427] synonym: "multicentric osteolysis, nodulosis and arthropathy, MMP2-related" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:36779427] -synonym: "multicentric osteolysis, nodulosis, and arthropathy" EXACT [MONDO:Lexical, OMIM:259600] +synonym: "multicentric osteolysis, nodulosis, and arthropathy" EXACT [MONDO:Lexical, NCIT:C123437, OMIM:259600] synonym: "NAO syndrome" EXACT [OMIM:259600] synonym: "nodulosis-arthropathy-osteolysis syndrome" EXACT [OMIM:259600, PMID:36779427] synonym: "osteolysis, hereditary multicentric" EXACT [OMIM:259600] synonym: "Torg syndrome" EXACT [OMIM:259600] -synonym: "Torg-Winchester syndrome" RELATED [OMIM:259600] -synonym: "Torg-Winchester syndrome, formerly" RELATED [OMIM:259600] +synonym: "Torg-Winchester syndrome" RELATED [] +synonym: "Torg-Winchester syndrome, formerly" RELATED [] synonym: "Winchester-Torg syndrome" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:36779427] xref: GARD:13743 {source="MONDO:GARD"} xref: NCIT:C123437 {source="MONDO:equivalentTo"} @@ -213725,10 +213759,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal osteolysis-short stature-intellectual disability syndrome" EXACT [Orphanet:2776] synonym: "osteolysis syndrome recessive" RELATED [GARD:0004144] -synonym: "osteolysis syndrome, recessive" RELATED [OMIM:259610] -synonym: "osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance" RELATED [OMIM:259610] +synonym: "osteolysis syndrome, recessive" RELATED [] +synonym: "osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance" RELATED [] synonym: "osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance" RELATED [GARD:0004144] -synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance" RELATED DEPRECATED [OMIM:259610] +synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance" RELATED DEPRECATED [] synonym: "osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance" RELATED DEPRECATED [GARD:0004144] synonym: "Petit-Fryns syndrome" EXACT [Orphanet:2776] xref: GARD:4299 {source="MONDO:GARD"} @@ -213769,16 +213803,16 @@ subset: ordo_disorder {source="Orphanet:324964"} subset: orphanet_rare {source="Orphanet:324964"} subset: rare synonym: "chronic multifocal osteomyelitis" EXACT [DOID:0060645] -synonym: "chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis" RELATED [Orphanet:324964] -synonym: "chronic recurrent multifocal osteomyelitis" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:259680] +synonym: "chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis" RELATED [] +synonym: "chronic recurrent multifocal osteomyelitis" EXACT [DOID:0060645, icd11.foundation:1256384247, MONDO:ambiguous, MONDO:Lexical, NCIT:C119042, OMIMPS:609628] synonym: "chronic recurrent multifocal osteomyelitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "CMO" RELATED ABBREVIATION [GARD:0006108] -synonym: "CNO/CRMO" EXACT [Orphanet:324964] -synonym: "CRMO" EXACT ABBREVIATION [DOID:0060645, MONDO:Lexical, OMIM:259680, Orphanet:324964] +synonym: "CNO/CRMO" EXACT ABBREVIATION [Orphanet:324964] +synonym: "CRMO" EXACT ABBREVIATION [DOID:0060645, MONDO:Lexical, NCIT:C119042] synonym: "multifocal osteomyelitis, chronic" RELATED [GARD:0006108] synonym: "NBO" EXACT ABBREVIATION [NCIT:C119042] synonym: "non-bacterial osteomyelitis" EXACT [NCIT:C119042] -synonym: "osteomyelitis, chronic multifocal" RELATED [OMIM:259680] +synonym: "osteomyelitis, chronic multifocal" RELATED [] xref: DOID:0060645 {source="MONDO:equivalentTo"} xref: GARD:6108 {source="MONDO:GARD"} xref: HP:0002754 {source="MONDO:otherHierarchy"} @@ -213810,7 +213844,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Kaler Garrity Stern syndrome" RELATED [GARD:0000354] synonym: "Kaler-Garrity-Stern syndrome" EXACT [Orphanet:2324] -synonym: "osteopenia and sparse hair" RELATED [OMIM:259690] +synonym: "osteopenia and sparse hair" RELATED [] synonym: "osteopenia intellectual disability sparse hair" RELATED [GARD:0000354] synonym: "osteopenia mental retardation sparse hair" RELATED DEPRECATED [GARD:0000354] xref: GARD:354 {source="MONDO:GARD"} @@ -213835,21 +213869,21 @@ subset: gard_rare {source="GARD:2579", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Albers-Schonberg disease, autosomal recessive" RELATED [OMIM:259700] -synonym: "autosomal recessive Albers-Schonberg disease" EXACT [DOID:0110942] +synonym: "Albers-Schonberg disease, autosomal recessive" RELATED [] +synonym: "autosomal recessive Albers-Schonberg disease" EXACT [DOID:0110942, NCIT:C167215] synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive osteopetrosis 1" EXACT CLINGEN_LABEL [] +synonym: "autosomal recessive osteopetrosis 1" EXACT CLINGEN_LABEL [DOID:0110942, NCIT:C167215] synonym: "autosomal recessive osteopetrosis caused by mutation in TCIRG1" EXACT [] -synonym: "autosomal recessive osteopetrosis type 1" EXACT [DOID:0110942, MONDORULE:1] -synonym: "infantile malignant osteopetrosis 1" EXACT [DOID:0110942] +synonym: "autosomal recessive osteopetrosis type 1" EXACT [MONDORULE:1, NCIT:C167215] +synonym: "infantile malignant osteopetrosis 1" EXACT [DOID:0110942, NCIT:C167215] synonym: "marble bones autosomal recessive" RELATED [GARD:0002579] -synonym: "marble bones, autosomal recessive" RELATED [OMIM:259700] -synonym: "OPTB1" EXACT ABBREVIATION [DOID:0110942, MONDO:Lexical, OMIM:259700] +synonym: "marble bones, autosomal recessive" RELATED [] +synonym: "OPTB1" EXACT ABBREVIATION [DOID:0110942, MONDO:Lexical, NCIT:C167215, OMIM:259700] synonym: "osteopetrosis autosomal recessive 1" RELATED [GARD:0002579] synonym: "osteopetrosis infantile malignant 1" RELATED [GARD:0002579] -synonym: "osteopetrosis, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:259700] -synonym: "osteopetrosis, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:259700] -synonym: "osteopetrosis, infantile malignant 1" RELATED [OMIM:259700] +synonym: "osteopetrosis, autosomal recessive 1" RELATED [MONDO:Lexical] +synonym: "osteopetrosis, autosomal recessive type 1" EXACT [MONDORULE:1] +synonym: "osteopetrosis, infantile malignant 1" RELATED [] synonym: "TCIRG1 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] synonym: "TCIRG1 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110942 {source="MONDO:equivalentTo"} @@ -213880,16 +213914,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis caused by mutation in TNFSF11" EXACT [] -synonym: "autosomal recessive osteopetrosis type 2" EXACT [DOID:0110943, MONDORULE:1] +synonym: "autosomal recessive osteopetrosis type 2" EXACT [MONDORULE:1] synonym: "mild autosomal recessive form osteopetrosis" EXACT [DOID:0110943] synonym: "OPTB2" EXACT ABBREVIATION [DOID:0110943, MONDO:Lexical, OMIM:259710] synonym: "osteoclast-poor osteopetrosis" EXACT [DOID:0110943] synonym: "osteopetrosis autosomal recessive 2" RELATED [GARD:0004157] synonym: "osteopetrosis osteoclast-poor" RELATED [GARD:0004157] -synonym: "osteopetrosis, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:259710] -synonym: "osteopetrosis, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:259710] -synonym: "osteopetrosis, mild autosomal recessive form" RELATED [OMIM:259710] -synonym: "osteopetrosis, osteoclast-poor" RELATED [OMIM:259710] +synonym: "osteopetrosis, autosomal recessive 2" RELATED [MONDO:Lexical] +synonym: "osteopetrosis, autosomal recessive type 2" EXACT [MONDORULE:1] +synonym: "osteopetrosis, mild autosomal recessive form" RELATED [] +synonym: "osteopetrosis, osteoclast-poor" RELATED [] synonym: "TNFSF11 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] synonym: "TNFSF11 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110943 {source="MONDO:equivalentTo"} @@ -213915,16 +213949,16 @@ def: "Any autosomal recessive malignant osteopetrosis in which the cause of the subset: gard_rare {source="GARD:4153", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive osteopetrosis 5" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive osteopetrosis type 5" EXACT [DOID:0110939, MONDORULE:1] +synonym: "autosomal recessive osteopetrosis 5" EXACT CLINGEN_LABEL [DOID:0110939] +synonym: "autosomal recessive osteopetrosis type 5" EXACT [MONDORULE:1] synonym: "infantile malignant osteopetrosis 3" EXACT [DOID:0110939] synonym: "OPTB5" EXACT ABBREVIATION [DOID:0110939, MONDO:Lexical, OMIM:259720] synonym: "osteopetrosis (disease) caused by mutation in OSTM1" EXACT [] synonym: "osteopetrosis autosomal recessive 5" RELATED [GARD:0004153] synonym: "osteopetrosis infantile malignant 3" RELATED [GARD:0004153] -synonym: "osteopetrosis, autosomal recessive 5" RELATED [MONDO:Lexical, OMIM:259720] -synonym: "osteopetrosis, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:259720] -synonym: "osteopetrosis, infantile malignant 3" RELATED [OMIM:259720] +synonym: "osteopetrosis, autosomal recessive 5" RELATED [MONDO:Lexical] +synonym: "osteopetrosis, autosomal recessive type 5" EXACT [MONDORULE:1] +synonym: "osteopetrosis, infantile malignant 3" RELATED [] synonym: "OSTM1 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110939 {source="MONDO:equivalentTo"} xref: GARD:4153 {source="MONDO:GARD"} @@ -213954,23 +213988,23 @@ subset: orphanet_rare {source="Orphanet:2785"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive osteopetrosis 3 with renal tubular acidosis" EXACT [DOID:0110941] -synonym: "autosomal recessive osteopetrosis type 3" EXACT [DOID:0110941, MONDORULE:1] +synonym: "autosomal recessive osteopetrosis type 3" EXACT [MONDORULE:1] synonym: "Autosomal Recessive osteopetrosis, type 3" EXACT [NCIT:C118438] synonym: "CA2 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "carbonic anhydrase 2 deficiency" EXACT [Orphanet:2785] -synonym: "carbonic anhydrase II deficiency" EXACT [DOID:0110941] +synonym: "carbonic anhydrase 2 deficiency" EXACT [OMIM:259730, Orphanet:2785] +synonym: "carbonic anhydrase II deficiency" EXACT [DOID:0110941, NCIT:C118438] synonym: "Guibaud Vainsel syndrome" RELATED [GARD:0004154] -synonym: "Guibaud-Vainsel syndrome" EXACT [DOID:0110941, Orphanet:2785] -synonym: "marble brain disease" EXACT [DOID:0110941, Orphanet:2785] +synonym: "Guibaud-Vainsel syndrome" EXACT [DOID:0110941, NCIT:C118438, OMIM:259730, Orphanet:2785] +synonym: "marble brain disease" EXACT [DOID:0110941, NCIT:C118438, OMIM:259730, Orphanet:2785] synonym: "mixed renal tubular acidosis" EXACT [Orphanet:2785] synonym: "mixed RTA" EXACT [Orphanet:2785] -synonym: "OPTB3" EXACT ABBREVIATION [DOID:0110941, MONDO:Lexical, OMIM:259730] +synonym: "OPTB3" EXACT ABBREVIATION [DOID:0110941, MONDO:Lexical, NCIT:C118438, OMIM:259730] synonym: "osteopetrosis (disease) caused by mutation in CA2" EXACT [] synonym: "osteopetrosis autosomal recessive 3" RELATED [GARD:0004154] -synonym: "osteopetrosis with renal tubular acidosis" EXACT [DOID:0110941, OMIM:259730] -synonym: "osteopetrosis, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:259730] -synonym: "osteopetrosis, autosomal recessive 3, with renal tubular acidosis" EXACT [OMIM:259730, OMIM:genemap2] -synonym: "osteopetrosis, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:259730] +synonym: "osteopetrosis with renal tubular acidosis" EXACT [DOID:0110941, NCIT:C118438, OMIM:259730, Orphanet:2785] +synonym: "osteopetrosis, autosomal recessive 3" RELATED [MONDO:Lexical] +synonym: "osteopetrosis, autosomal recessive 3, with renal tubular acidosis" EXACT [] +synonym: "osteopetrosis, autosomal recessive type 3" EXACT [MONDORULE:1] synonym: "renal tubular acidosis type 3" EXACT [Orphanet:2785] xref: DOID:0110941 {source="MONDO:equivalentTo"} xref: GARD:4154 {source="MONDO:GARD"} @@ -214011,11 +214045,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ocular form of osteogenesis imperfecta" EXACT [DOID:0060849, Orphanet:2788] synonym: "OPPG" EXACT ABBREVIATION [DOID:0060849, MONDO:Lexical, OMIM:259770, Orphanet:2788] -synonym: "Ops" RELATED [OMIM:259770] +synonym: "Ops" RELATED [] synonym: "osteogenesis imperfecta ocular form" RELATED [GARD:0004160] -synonym: "osteogenesis imperfecta, ocular form" RELATED [OMIM:259770] +synonym: "osteogenesis imperfecta, ocular form" RELATED [] synonym: "osteoporosis pseudoglioma syndrome" RELATED [GARD:0004160] -synonym: "osteoporosis-pseudoglioma syndrome" EXACT [MONDO:Lexical, OMIM:259770] +synonym: "osteoporosis-pseudoglioma syndrome" EXACT [DOID:0060849, MONDO:Lexical, OMIM:259770, Orphanet:2788] synonym: "pseudoglioma with bone fragility" RELATED [GARD:0004160] xref: DOID:0060849 {source="MONDO:equivalentTo"} xref: GARD:4160 {source="MONDO:GARD"} @@ -214054,12 +214088,12 @@ subset: orphanet_rare {source="Orphanet:1832"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis" RELATED [GARD:0000282] -synonym: "lethal osteosclerotic bone dysplasia" EXACT CLINGEN_LABEL [] -synonym: "osteomalacia, sclerosing, with cerebral calcification" EXACT [OMIM:259660] +synonym: "lethal osteosclerotic bone dysplasia" EXACT CLINGEN_LABEL [icd11.foundation:1306493470] +synonym: "osteomalacia, sclerosing, with cerebral calcification" EXACT [OMIM:259775] synonym: "osteosclerotic bone dysplasia, lethal" EXACT [OMIM:259775] -synonym: "RAINE syndrome" EXACT [MONDO:Lexical, OMIM:259775] -synonym: "Raine syndrome" EXACT [Orphanet:1832] -synonym: "RNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259775] +synonym: "RAINE syndrome" EXACT [MONDO:Lexical, OMIM:259775, Orphanet:1832] +synonym: "Raine syndrome" EXACT [OMIM:259775, Orphanet:1832] +synonym: "RNS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:282 {source="MONDO:GARD"} xref: ICD10CM:Q78.2 {source="Orphanet:1832", source="Orphanet:1832/attributed", source="Orphanet:1832/ntbt"} xref: icd11.foundation:1306493470 {source="MONDO:equivalentTo"} @@ -214086,7 +214120,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2793"} subset: orphanet_rare {source="Orphanet:2793"} subset: rare synonym: "oto-onycho-peroneal syndrome" RELATED [GARD:0004170] -synonym: "otoonychoperoneal syndrome" EXACT [OMIM:259780] +synonym: "otoonychoperoneal syndrome" EXACT [OMIM:259780, Orphanet:2793] xref: GARD:4170 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:2793", source="Orphanet:2793/attributed", source="Orphanet:2793/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -214113,22 +214147,22 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93598"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AGXT primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "alanine-glyoxylate aminotransferase deficiency" RELATED [OMIM:259900] -synonym: "glycolic aciduria" EXACT [OMIM:259900, Orphanet:93598] -synonym: "hepatic AGT deficiency" RELATED [OMIM:259900] -synonym: "HP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259900] -synonym: "hyperoxaluria, primary, type 1" RELATED [OMIM:259900] -synonym: "hyperoxaluria, primary, type I" RELATED [MONDO:Lexical, OMIM:259900] -synonym: "Oxalosis 1" RELATED [OMIM:259900] +synonym: "alanine-glyoxylate aminotransferase deficiency" RELATED [] +synonym: "glycolic aciduria" EXACT [DOID:0111670, OMIM:259900, Orphanet:93598] +synonym: "hepatic AGT deficiency" RELATED [] +synonym: "HP1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperoxaluria, primary, type 1" RELATED [] +synonym: "hyperoxaluria, primary, type I" RELATED [MONDO:Lexical] +synonym: "Oxalosis 1" RELATED [] synonym: "peroxisomal alanine glyoxylate aminotransferase deficiency" RELATED [GARD:0002835] -synonym: "peroxisomal alanine-glyoxylate aminotransferase deficiency" EXACT [Orphanet:93598] -synonym: "peroxisomal alanine:glyoxylate aminotransferase deficiency" RELATED [OMIM:259900] -synonym: "PH1" EXACT ABBREVIATION [Orphanet:93598] +synonym: "peroxisomal alanine-glyoxylate aminotransferase deficiency" EXACT [DOID:0111670, Orphanet:93598] +synonym: "peroxisomal alanine:glyoxylate aminotransferase deficiency" RELATED [] +synonym: "PH1" EXACT ABBREVIATION [] synonym: "primary hyperoxaluria caused by mutation in AGXT" EXACT [MONDO:design_pattern] -synonym: "primary hyperoxaluria type 1" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/working-groups/dosage-sensitivity-curation/] +synonym: "primary hyperoxaluria type 1" EXACT CLINGEN_LABEL [DOID:0111670, https://www.clinicalgenome.org/working-groups/dosage-sensitivity-curation/, icd11.foundation:692812009, Orphanet:93598] synonym: "primary hyperoxaluria type I" EXACT [NCIT:C123212, PMID:16756494] synonym: "serine pyruvate aminotransferase deficiency" RELATED [GARD:0002835] -synonym: "serine:pyruvate aminotransferase deficiency" RELATED [OMIM:259900] +synonym: "serine:pyruvate aminotransferase deficiency" RELATED [] xref: DOID:0111670 {source="MONDO:equivalentTo"} xref: GARD:2835 {source="MONDO:GARD"} xref: ICD10CM:E74.8 {source="Orphanet:93598", source="Orphanet:93598/attributed", source="Orphanet:93598/ntbt"} @@ -214163,17 +214197,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93599"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "D-glycerate dehydrogenase deficiency" EXACT [OMIM:260000, Orphanet:93599] -synonym: "glyceric aciduria" RELATED [OMIM:260000] -synonym: "glyoxylate reductase/hydroxypyruvate reductase deficiency" RELATED [OMIM:260000] +synonym: "D-glycerate dehydrogenase deficiency" EXACT [DOID:0111671, icd11.foundation:347920969, OMIM:260000, Orphanet:93599] +synonym: "glyceric aciduria" RELATED [] +synonym: "glyoxylate reductase/hydroxypyruvate reductase deficiency" RELATED [] synonym: "GRHPR primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260000] -synonym: "hyperoxaluria, primary, type 2" RELATED [OMIM:260000] -synonym: "hyperoxaluria, primary, type II" RELATED [MONDO:Lexical, OMIM:260000] -synonym: "L-glyceric aciduria" EXACT [Orphanet:93599] -synonym: "Oxalosis 2" RELATED [OMIM:260000] +synonym: "HP2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperoxaluria, primary, type 2" RELATED [] +synonym: "hyperoxaluria, primary, type II" RELATED [MONDO:Lexical] +synonym: "L-glyceric aciduria" EXACT [DOID:0111671, Orphanet:93599] +synonym: "Oxalosis 2" RELATED [] synonym: "primary hyperoxaluria caused by mutation in GRHPR" EXACT [MONDO:design_pattern] -synonym: "primary hyperoxaluria type 2" EXACT CLINGEN_LABEL [] +synonym: "primary hyperoxaluria type 2" EXACT CLINGEN_LABEL [DOID:0111671, icd11.foundation:347920969, Orphanet:93599] synonym: "primary hyperoxaluria type II" EXACT [NCIT:C123213] xref: DOID:0111671 {source="MONDO:equivalentTo"} xref: GARD:2836 {source="MONDO:GARD"} @@ -214205,12 +214239,12 @@ subset: orphanet_rare {source="Orphanet:33572"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "5-alpha-oxoprolinase deficiency" RELATED [GARD:0005681] -synonym: "5-oxoprolinase deficiency" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:260005] +synonym: "5-oxoprolinase deficiency" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:260005, Orphanet:33572] synonym: "5-oxoprolinase deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder" EXACT [] synonym: "inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" EXACT [MONDO:patterns/inborn_metabolic] -synonym: "OPLAHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260005] -synonym: "oxoprolinuria due to 5-oxoprolinase deficiency" RELATED [OMIM:260005] +synonym: "OPLAHD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "oxoprolinuria due to 5-oxoprolinase deficiency" RELATED [] synonym: "oxoprolinuria due to oxoprolinase deficiency" EXACT [Orphanet:33572] synonym: "rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity" EXACT [MONDO:patterns/inborn_metabolic] xref: GARD:5681 {source="MONDO:GARD"} @@ -214234,7 +214268,7 @@ property_value: IAO:0000589 "5-oxoprolinase deficiency (disease)" xsd:string [Term] id: MONDO:0009826 name: PA polymorphism of alpha-2-globulin -synonym: "Alpha-2-globulin polymorphism Pa" RELATED [OMIM:260100] +synonym: "Alpha-2-globulin polymorphism Pa" RELATED [] synonym: "PA polymorphism of alpha-2-globulin" EXACT [OMIM:260100] xref: MEDGEN:342415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:260100 {source="MONDO:equivalentTo"} @@ -214244,7 +214278,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0009827 name: obsolete pachyonychia congenita, autosomal recessive -synonym: "pachyonychia congenita, autosomal recessive" EXACT [OMIM:260130] +synonym: "pachyonychia congenita, autosomal recessive" EXACT [] xref: MESH:C538094 {source="MONDO:obsoleteEquivalent"} xref: OMIM:260130 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} @@ -214269,7 +214303,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4198/palant- id: MONDO:0009829 name: obsolete pallidal degeneration, progressive, with retinitis pigmentosa comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0007132 -synonym: "pallidal degeneration, progressive, with retinitis pigmentosa" EXACT [OMIM:260200] +synonym: "pallidal degeneration, progressive, with retinitis pigmentosa" EXACT [] xref: MESH:C564910 {source="MONDO:obsoleteEquivalent"} xref: OMIM:260200 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -214287,16 +214321,16 @@ subset: orphanet_rare {source="Orphanet:171695"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive early-onset Parkinson disease 15" EXACT [DOID:0060372] -synonym: "autosomal recessive early-onset Parkinson disease type 15" EXACT [DOID:0060372, MONDORULE:2] -synonym: "autosomal recessive early-onset Parkinson's disease 15" RELATED [DOID:0060372] +synonym: "autosomal recessive early-onset Parkinson disease type 15" EXACT [MONDORULE:2] +synonym: "autosomal recessive early-onset Parkinson's disease 15" RELATED [] synonym: "pallido-pyramidal disease" RELATED [GARD:0009175] -synonym: "pallido-pyramidal syndrome" RELATED [OMIM:260300] -synonym: "Pallidopyramidal syndrome" EXACT [OMIM:260300, Orphanet:171695] -synonym: "pallidopyramidal syndrome" EXACT [DOID:0060372] -synonym: "PARK15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260300] -synonym: "Parkinson disease 15, autosomal recessive" EXACT [OMIM:260300, OMIM:genemap2] -synonym: "Parkinson disease 15, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:260300] -synonym: "parkinsonian-pyramidal syndrome" EXACT CLINGEN_LABEL [DOID:0060372, OMIM:260300] +synonym: "pallido-pyramidal syndrome" RELATED [] +synonym: "Pallidopyramidal syndrome" EXACT [DOID:0060372, OMIM:260300, Orphanet:171695] +synonym: "pallidopyramidal syndrome" EXACT [DOID:0060372, OMIM:260300, Orphanet:171695] +synonym: "PARK15" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Parkinson disease 15, autosomal recessive" EXACT [] +synonym: "Parkinson disease 15, autosomal recessive early-onset" RELATED [MONDO:Lexical] +synonym: "parkinsonian-pyramidal syndrome" EXACT CLINGEN_LABEL [DOID:0060372, icd11.foundation:1128311778, OMIM:260300, Orphanet:171695] xref: DOID:0060372 {source="MONDO:equivalentTo"} xref: GARD:9175 {source="MONDO:GARD"} xref: ICD10CM:G20 {source="Orphanet:171695", source="Orphanet:171695/attributed", source="Orphanet:171695/ntbt"} @@ -214328,10 +214362,10 @@ synonym: "malignant neoplasm of the pancreas" EXACT [NCIT:C9005] synonym: "malignant pancreas neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant pancreatic neoplasm" EXACT [NCIT:C9005] synonym: "pancreas cancer" EXACT [MONDO:patterns/location] -synonym: "pancreas neoplasm" BROAD [DOID:1793] -synonym: "pancreatic cancer" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "pancreatic neoplasm" RELATED EXCLUDE [DOID:1793] -synonym: "pancreatic tumor" RELATED EXCLUDE [DOID:1793] +synonym: "pancreas neoplasm" BROAD [] +synonym: "pancreatic cancer" EXACT [DOID:1793, https://orcid.org/0000-0002-6601-2165] +synonym: "pancreatic neoplasm" RELATED EXCLUDE [] +synonym: "pancreatic tumor" RELATED EXCLUDE [] synonym: "pancreatic tumour" RELATED OMO:0003005 [] xref: DOID:1793 {source="MONDO:equivalentTo"} xref: EFO:1000359 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -214378,11 +214412,11 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "congenital pancreatic agenesis" EXACT [Orphanet:2805] -synonym: "PAGEN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260370] -synonym: "pancreatic agenesis 1" RELATED [MONDO:Lexical, OMIM:260370] -synonym: "pancreatic agenesis type 1" EXACT [MONDORULE:1, OMIM:260370] +synonym: "PAGEN1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pancreatic agenesis 1" RELATED [MONDO:Lexical] +synonym: "pancreatic agenesis type 1" EXACT [MONDORULE:1] synonym: "partial agenesis of the pancreas" EXACT [Orphanet:2805] -synonym: "partial pancreatic agenesis" EXACT [DOID:0050877] +synonym: "partial pancreatic agenesis" EXACT [DOID:0050877, Orphanet:2805] xref: DOID:0050877 {source="MONDO:equivalentTo"} xref: GARD:4203 {source="MONDO:GARD"} xref: ICD10CM:Q45.0 {source="Orphanet:2805/attributed", source="Orphanet:2805/ntbt", source="Orphanet:2805"} @@ -214409,17 +214443,17 @@ subset: orphanet_rare {source="Orphanet:811"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital lipomatosis of pancreas" RELATED [GARD:0004863] -synonym: "lipomatosis of pancreas, congenital" RELATED [OMIM:260400] +synonym: "lipomatosis of pancreas, congenital" RELATED [] synonym: "pancreatic insufficiency and bone marrow dysfunction" EXACT [DOID:0060479, Orphanet:811] synonym: "Schwachman-Diamond syndrome" EXACT [OMIMPS:260400] -synonym: "Schwachmann-Diamond syndrome" EXACT [NCIT:C61235] -synonym: "SDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:260400, Orphanet:811] +synonym: "Schwachmann-Diamond syndrome" EXACT [] +synonym: "SDS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:811] synonym: "Shwachman Diamond Syndrome" EXACT [NORD:1711] -synonym: "Shwachman syndrome" EXACT [DOID:0060479, Orphanet:811] -synonym: "Shwachman-Bodian syndrome" RELATED [OMIM:260400] -synonym: "Shwachman-Bodian-Diamond syndrome" EXACT [DOID:0060479, Orphanet:811] -synonym: "Shwachman-Diamond syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:260400] -synonym: "Shwachman-Diamond type metaphyseal dysplasia" RELATED [DOID:0080023] +synonym: "Shwachman syndrome" EXACT [DOID:0060479, NCIT:C61235, Orphanet:811] +synonym: "Shwachman-Bodian syndrome" RELATED [] +synonym: "Shwachman-Bodian-Diamond syndrome" EXACT [DOID:0060479, NCIT:C61235, Orphanet:811] +synonym: "Shwachman-Diamond syndrome" EXACT CLINGEN_LABEL [DOID:0060479, icd11.foundation:232885463, MONDO:Lexical, NCIT:C61235, Orphanet:811] +synonym: "Shwachman-Diamond type metaphyseal dysplasia" RELATED [] xref: DOID:0060479 {source="MONDO:equivalentTo"} xref: DOID:0080023 {source="MONDO:equivalentObsolete"} xref: GARD:4863 {source="MONDO:GARD"} @@ -214466,16 +214500,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Dawson disease" RELATED [GARD:0007708] synonym: "Dawson encephalitis" RELATED [GARD:0007708] -synonym: "Dawson's encephalitis" EXACT [Orphanet:2806] -synonym: "Immunosuppressive measles encephalitis" EXACT [DOID:8970] -synonym: "panencephalitis, SUBACUTE sclerosing" RELATED [OMIM:260470] -synonym: "SSPE" EXACT ABBREVIATION [Orphanet:2806] +synonym: "Dawson's encephalitis" EXACT [] +synonym: "Immunosuppressive measles encephalitis" EXACT [DOID:8970, icd11.foundation:1098683540] +synonym: "panencephalitis, SUBACUTE sclerosing" RELATED [] +synonym: "SSPE" EXACT ABBREVIATION [NCIT:C85171, OMIM:260470, Orphanet:2806] synonym: "Subacute inclusion body encephalitis" EXACT [Orphanet:2806] -synonym: "Subacute sclerosing leukoencephalitis" RELATED [Orphanet:2806] +synonym: "Subacute sclerosing leukoencephalitis" RELATED [] synonym: "subacute sclerosing leukoencephalopathy" EXACT [DOID:8970] -synonym: "Subacute sclerosing panencephalitis" EXACT [DOID:8970, MTH:NOCODE, Orphanet:2806] -synonym: "subacute sclerosing panencephalitis" EXACT [OMIM:260470] -synonym: "Subacute sclerosing panencephalitis (disorder) [ambiguous]" EXACT [DOID:8970] +synonym: "Subacute sclerosing panencephalitis" EXACT [DOID:8970, ICD10CM:A81.1, icd11.foundation:1098683540, MTH:NOCODE, NCIT:C85171, OMIM:260470, Orphanet:2806] +synonym: "subacute sclerosing panencephalitis" EXACT [DOID:8970, ICD10CM:A81.1, icd11.foundation:1098683540, NCIT:C85171, OMIM:260470, Orphanet:2806] +synonym: "Subacute sclerosing panencephalitis (disorder) [ambiguous]" EXACT [] synonym: "Van Bogaert disease" EXACT [Orphanet:2806] synonym: "Van Bogaert encephalitis" EXACT [Orphanet:2806] synonym: "Van Bogaert's sclerosing leukoencephalitis" EXACT [DOID:8970] @@ -214526,18 +214560,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:2807"} subset: orphanet_rare {source="Orphanet:2807"} subset: rare -synonym: "childhood choroid plexus papilloma" NARROW [DOID:2626] -synonym: "childhood papilloma of choroid plexus" NARROW [DOID:2626] -synonym: "choroid plexus carcinoma" RELATED [OMIM:260500] -synonym: "choroid plexus papilloma" EXACT [MONDO:patterns/location, NCIT:C3698, OMIM:260500, Orphanet:2807] -synonym: "choroid plexus papilloma NOS (morphologic abnormality)" NARROW [DOID:2626] -synonym: "choroid plexus papilloma, no ICD-O subtype" EXACT [DOID:2626] -synonym: "CPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260500, Orphanet:2807] +synonym: "childhood choroid plexus papilloma" NARROW [] +synonym: "childhood papilloma of choroid plexus" NARROW [] +synonym: "choroid plexus carcinoma" RELATED [] +synonym: "choroid plexus papilloma" EXACT [DOID:2626, icd11.foundation:1696749652, MONDO:patterns/location, NCIT:C3698, OMIM:260500, Orphanet:2807] +synonym: "choroid plexus papilloma NOS (morphologic abnormality)" NARROW [] +synonym: "choroid plexus papilloma, no ICD-O subtype" EXACT [] +synonym: "CPP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "paediatric papilloma of choroid plexus" NARROW OMO:0003005 [] -synonym: "papilloma of choroid plexus" RELATED [MONDO:Lexical, NCIT:C3698, OMIM:260500] -synonym: "papilloma of the choroid plexus" EXACT [DOID:2626, NCIT:C3698] -synonym: "papilloma, choroid plexus, benign" RELATED [NCIT:C3698] -synonym: "pediatric papilloma of choroid plexus" NARROW [DOID:2626, NCIT:C5800] +synonym: "papilloma of choroid plexus" RELATED [MONDO:Lexical] +synonym: "papilloma of the choroid plexus" EXACT [NCIT:C3698] +synonym: "papilloma, choroid plexus, benign" RELATED [] +synonym: "pediatric papilloma of choroid plexus" NARROW [] xref: DOID:2626 {source="MONDO:equivalentTo"} xref: GARD:4214 {source="MONDO:GARD"} xref: ICD10CM:D33.0 {source="Orphanet:2807/ntbt", source="Orphanet:2807"} @@ -214576,9 +214610,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hard skin syndrome Parana type" EXACT [NCIT:C126559] synonym: "hard skin syndrome, Parana type" EXACT [Orphanet:2812] -synonym: "hard-skin syndrome, Parana type" EXACT [Orphanet:2812] -synonym: "Parana hard skin syndrome" RELATED [Orphanet:2812] -synonym: "Parana hard-skin syndrome" EXACT [OMIM:260530] +synonym: "hard-skin syndrome, Parana type" EXACT [] +synonym: "Parana hard skin syndrome" RELATED [] +synonym: "Parana hard-skin syndrome" EXACT [NCIT:C126559, OMIM:260530] xref: GARD:2598 {source="MONDO:GARD"} xref: ICD10CM:L91.8 {source="Orphanet:2812", source="Orphanet:2812/attributed", source="Orphanet:2812/ntbt"} xref: MEDGEN:337964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -214600,13 +214634,13 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:240085"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atypical PSP" RELATED [GARD:0004507] -synonym: "Parkinson-dementia syndrome" RELATED [OMIM:260540] +synonym: "Parkinson-dementia syndrome" RELATED [] synonym: "progressive supranuclear palsy atypical" RELATED [GARD:0004507] synonym: "PSP-p" EXACT [Orphanet:240085] synonym: "PSP-parkinsonism" EXACT [Orphanet:240085] -synonym: "Steele-Richardson-Olszewski syndrome, atypical" RELATED [OMIM:260540] -synonym: "supranuclear palsy, progressive atypical" EXACT [OMIM:260540, OMIM:genemap2] -synonym: "supranuclear palsy, progressive, 1, atypical" RELATED [OMIM:260540] +synonym: "Steele-Richardson-Olszewski syndrome, atypical" RELATED [] +synonym: "supranuclear palsy, progressive atypical" EXACT [] +synonym: "supranuclear palsy, progressive, 1, atypical" RELATED [] xref: GARD:17183 {source="MONDO:GARD"} xref: ICD10CM:G23.1 {source="Orphanet:240085", source="Orphanet:240085/attributed", source="Orphanet:240085/ntbt"} xref: MEDGEN:342410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -214641,13 +214675,13 @@ subset: ordo_disorder {source="Orphanet:2836"} subset: orphanet_rare {source="Orphanet:2836"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "infantile Cerebellooptic atrophy" RELATED [OMIM:260565] -synonym: "peho" RELATED [OMIM:260565] -synonym: "peho syndrome" EXACT [OMIM:260565] -synonym: "peho-like syndrome" RELATED [OMIM:260565] +synonym: "infantile Cerebellooptic atrophy" RELATED [] +synonym: "peho" RELATED [] +synonym: "peho syndrome" EXACT [DOID:0080539, icd11.foundation:976613527, OMIM:260565, Orphanet:2836] +synonym: "peho-like syndrome" RELATED [] synonym: "progressive encephalopathy with edema, hypsarrhythmia and optic atrophy" EXACT [Orphanet:2836] -synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" RELATED [OMIM:260565] -synonym: "progressive encephalopathy-optic atrophy syndrome" EXACT [Orphanet:2836] +synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" RELATED [] +synonym: "progressive encephalopathy-optic atrophy syndrome" EXACT [] xref: DOID:0080539 {source="MONDO:equivalentTo"} xref: GARD:4264 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:2836", source="Orphanet:2836/attributed", source="Orphanet:2836/ntbt"} @@ -214693,13 +214727,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AIMP1 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HLD3" EXACT ABBREVIATION [DOID:0060790, MONDO:Lexical, OMIM:260600] -synonym: "hypomyelinating leukodystrophy 3" EXACT CLINGEN_LABEL [] -synonym: "hypomyelinating leukodystrophy type 3" EXACT [DOID:0060790, MONDORULE:1] +synonym: "hypomyelinating leukodystrophy 3" EXACT CLINGEN_LABEL [DOID:0060790] +synonym: "hypomyelinating leukodystrophy type 3" EXACT [MONDORULE:1] synonym: "leukodystrophy caused by mutation in AIMP1" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating 3" RELATED [GARD:0004266] -synonym: "leukodystrophy, hypomyelinating, 3" RELATED [MONDO:Lexical, OMIM:260600] -synonym: "leukodystrophy, hypomyelinating, type 3" EXACT [MONDORULE:1, OMIM:260600] -synonym: "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" EXACT [DOID:0060790] +synonym: "leukodystrophy, hypomyelinating, 3" RELATED [MONDO:Lexical] +synonym: "leukodystrophy, hypomyelinating, type 3" EXACT [MONDORULE:1] +synonym: "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" EXACT [DOID:0060790, Orphanet:280293] synonym: "perinatal Sudanophilic leukodystrophy" RELATED [GARD:0004266] xref: DOID:0060790 {source="MONDO:equivalentTo"} xref: GARD:4266 {source="MONDO:GARD"} @@ -214726,7 +214760,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "pellagra like syndrome" RELATED [GARD:0004267] synonym: "pellagra-like rash with neurologic manifestations" RELATED [GARD:0004267] -synonym: "pellagra-like skin rash-neurological manifestations syndrome" EXACT [Orphanet:2837] +synonym: "pellagra-like skin rash-neurological manifestations syndrome" EXACT [] synonym: "pellagra-like syndrome" EXACT [OMIM:260650] xref: GARD:4267 {source="MONDO:GARD"} xref: MEDGEN:337955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -214748,12 +214782,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:93333"} subset: orphanet_rare {source="Orphanet:93333"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COUSIN syndrome" RELATED [OMIM:260660] -synonym: "Cousin syndrome" EXACT [Orphanet:93333] +synonym: "COUSIN syndrome" RELATED [] +synonym: "Cousin syndrome" EXACT [OMIM:260660, Orphanet:93333] synonym: "craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature" RELATED [GARD:0001555] -synonym: "craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature" RELATED [OMIM:260660] +synonym: "craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature" RELATED [] synonym: "familial pelvis-scapular dysplasia" EXACT [Orphanet:93333] -synonym: "pelviscapular dysplasia" EXACT [OMIM:260660] +synonym: "pelviscapular dysplasia" EXACT [OMIM:260660, Orphanet:93333] xref: GARD:1555 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:93333/attributed", source="Orphanet:93333/ntbt", source="Orphanet:93333"} xref: MEDGEN:342400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -214780,12 +214814,12 @@ subset: ordo_disorder {source="Orphanet:2843"} subset: orphanet_rare {source="Orphanet:2843"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "essential pentosuria" EXACT [Orphanet:2843] -synonym: "L-xylulose reductase deficiency" RELATED [OMIM:260800] -synonym: "L-Xylulosuria" RELATED [OMIM:260800] -synonym: "pentosuria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:260800, OMIM:genemap2] -synonym: "PNTSU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:260800] -synonym: "xylitol dehydrogenase deficiency" EXACT [OMIM:260800, Orphanet:2843] +synonym: "essential pentosuria" EXACT [DOID:0111258, Orphanet:2843] +synonym: "L-xylulose reductase deficiency" RELATED [] +synonym: "L-Xylulosuria" RELATED [] +synonym: "pentosuria" EXACT CLINGEN_LABEL [DOID:0111258, MONDO:Lexical, OMIM:260800, Orphanet:2843] +synonym: "PNTSU" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "xylitol dehydrogenase deficiency" EXACT [DOID:0111258, OMIM:260800, Orphanet:2843] xref: DOID:0111258 {source="MONDO:equivalentTo"} xref: GARD:418 {source="MONDO:GARD"} xref: ICD10CM:E74.8 {source="Orphanet:2843/inclusion", source="Orphanet:2843", source="Orphanet:2843/ntbt"} @@ -214808,7 +214842,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/418/pentosur id: MONDO:0009847 name: pericardial effusion, chronic def: "Chronic form of pericardial effusion (disease)." [MONDO:patterns/chronic] -synonym: "cholesterol pericarditis" RELATED [OMIM:260900] +synonym: "cholesterol pericarditis" RELATED [] synonym: "chronic pericardial effusion (disease)" EXACT [] synonym: "pericardial effusion (disease), chronic" EXACT [MONDO:patterns/chronic] synonym: "pericardial effusion, chronic" EXACT [OMIM:260900] @@ -214829,8 +214863,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:345"} subset: orphanet_rare {source="Orphanet:345"} subset: rare -synonym: "dissecting cellulitis of the scalp" EXACT [OMIM:260910] -synonym: "perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial" RELATED [OMIM:260910] +synonym: "dissecting cellulitis of the scalp" EXACT [OMIM:260910, Orphanet:345] +synonym: "perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial" RELATED [] xref: GARD:1883 {source="MONDO:GARD"} xref: ICD10CM:L08.8 {source="Orphanet:345", source="Orphanet:345/ntbt"} xref: icd11.foundation:872245808 {source="Orphanet:345", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -214856,13 +214890,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HIDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:260920, Orphanet:343] synonym: "hyper IgD syndrome" RELATED [GARD:0002788] -synonym: "hyper-IgD syndrome" EXACT [MONDO:Lexical, OMIM:260920, Orphanet:343] +synonym: "hyper-IgD syndrome" EXACT [DOID:0081450, MONDO:Lexical, OMIM:260920, Orphanet:343] synonym: "hyperimmunoglobinemia D with recurrent fever" EXACT [Orphanet:343] -synonym: "hyperimmunoglobulinemia D and periodic fever syndrome" RELATED [OMIM:260920] +synonym: "hyperimmunoglobulinemia D and periodic fever syndrome" RELATED [] synonym: "hyperimmunoglobulinemia D syndrome" EXACT [Orphanet:343] synonym: "partial mevalonate kinase deficiency" EXACT [Orphanet:343] synonym: "periodic fever Dutch type" RELATED [GARD:0002788] -synonym: "periodic fever, Dutch type" RELATED [OMIM:260920] +synonym: "periodic fever, Dutch type" RELATED [] xref: DOID:0081450 {source="MONDO:equivalentTo"} xref: GARD:2788 {source="MONDO:GARD"} xref: ICD10CM:E85.0 {source="Orphanet:343/attributed", source="Orphanet:343/ntbt", source="Orphanet:343"} @@ -214881,8 +214915,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0009850 name: periodontitis, chronic, adult -synonym: "periodontitis, adult" BROAD [OMIM:260950] -synonym: "periodontitis, chronic" BROAD [OMIM:260950] +synonym: "periodontitis, adult" BROAD [] +synonym: "periodontitis, chronic" BROAD [] xref: MEDGEN:120593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:260950 {source="MONDO:equivalentTo"} xref: SCTID:74797001 {source="MONDO:equivalentTo"} @@ -214910,7 +214944,7 @@ subset: ordo_disorder {source="Orphanet:332"} subset: orphanet_rare {source="Orphanet:332"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital intrinsic factor deficiency" EXACT [Orphanet:332] +synonym: "congenital intrinsic factor deficiency" EXACT [DOID:0050734, Orphanet:332] synonym: "congenital pernicious anaemia" EXACT OMO:0003005 [] synonym: "congenital pernicious anaemia due to defect of intrinsic factor" RELATED OMO:0003005 [] synonym: "congenital pernicious anemia" EXACT [Orphanet:332] @@ -214919,9 +214953,9 @@ synonym: "gastric intrinsic factor deficiency" EXACT [Orphanet:332] synonym: "hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency" EXACT OMO:0003005 [] synonym: "hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency" EXACT [Orphanet:332] synonym: "IFD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:261000, Orphanet:332] -synonym: "intrinsic factor deficiency" BROAD [MONDO:Lexical, OMIM:261000, Orphanet:332] +synonym: "intrinsic factor deficiency" BROAD [MONDO:Lexical] synonym: "intrinsic factor, congenital deficiency of" RELATED [GARD:0003024] -synonym: "pernicious Anemia, congenital, due to defect of intrinsic Factor" RELATED [OMIM:261000] +synonym: "pernicious Anemia, congenital, due to defect of intrinsic Factor" RELATED [] xref: DOID:0050734 {source="MONDO:equivalentTo"} xref: GARD:3024 {source="MONDO:GARD"} xref: ICD10CM:D51.0 {source="Orphanet:332/attributed", source="Orphanet:332/ntbt", source="Orphanet:332"} @@ -214951,14 +214985,14 @@ subset: orphanet_rare {source="Orphanet:35858"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "defect of enterocyte intrinsic factor receptor" RELATED [GARD:0007006] -synonym: "enterocyte cobalamin malabsorption" RELATED [OMIM:261100] +synonym: "enterocyte cobalamin malabsorption" RELATED [] synonym: "familial megaloblastic anaemia" EXACT OMO:0003005 [] synonym: "familial megaloblastic anemia" EXACT [Orphanet:35858] -synonym: "Gräsbeck-Imerslund disease" RELATED [Orphanet:35858] -synonym: "Imerslund-Grasbeck syndrome" EXACT [OMIM:261100] -synonym: "Imerslund-Gräsbeck syndrome" EXACT [NCIT:C131677] +synonym: "Gräsbeck-Imerslund disease" RELATED [] +synonym: "Imerslund-Grasbeck syndrome" EXACT [icd11.foundation:375969525, OMIMPS:261100] +synonym: "Imerslund-Gräsbeck syndrome" EXACT [Orphanet:35858] synonym: "juvenile megaloblastic Anaemia" EXACT OMO:0003005 [] -synonym: "juvenile megaloblastic Anemia" EXACT [NCIT:C131677] +synonym: "juvenile megaloblastic Anemia" EXACT [] synonym: "selective cobalamin malabsorption with proteinuria" EXACT [Orphanet:35858] xref: GARD:7006 {source="MONDO:GARD"} xref: ICD10CM:D51.1 {source="Orphanet:35858/attributed", source="Orphanet:35858/ntbt", source="Orphanet:35858"} @@ -214998,16 +215032,16 @@ subset: ordo_disorder {source="Orphanet:300"} subset: orphanet_rare {source="Orphanet:300"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "17-beta-hydroxysteroid dehydrogenase 4 deficiency" RELATED [OMIM:261515] +synonym: "17-beta-hydroxysteroid dehydrogenase 4 deficiency" RELATED [] synonym: "17-beta-hydroxysteroid dehydrogenase IV deficiency" RELATED [GARD:0004539] synonym: "bifunctional enzyme deficiency" RELATED [GARD:0004539] synonym: "D-bifunctional enzyme deficiency" EXACT [NCIT:C119676] -synonym: "d-bifunctional protein deficiency" EXACT CLINGEN_LABEL [OMIM:261515] -synonym: "DBP deficiency" RELATED [OMIM:261515] +synonym: "d-bifunctional protein deficiency" EXACT CLINGEN_LABEL [DOID:0090031, NCIT:C119676, OMIM:261515] +synonym: "DBP deficiency" RELATED [] synonym: "HSD17B4 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] synonym: "multifunctional enzyme deficiency" EXACT [NCIT:C119676] -synonym: "Pbfe deficiency" RELATED [OMIM:261515] -synonym: "peroxisomal bifunctional enzyme deficiency" RELATED [OMIM:261515] +synonym: "Pbfe deficiency" RELATED [] +synonym: "peroxisomal bifunctional enzyme deficiency" RELATED [] synonym: "peroxisomal multifunctional enzyme (MFE2) deficiency" EXACT [NCIT:C119676] synonym: "peroxisomal multifunctional enzyme deficiency" EXACT [NCIT:C119676] synonym: "pseudo-Zellweger syndrome" EXACT [NCIT:C119676] @@ -215043,9 +215077,9 @@ subset: rare synonym: "Krause-Kivlin syndrome" EXACT [DOID:0080201, OMIM:261540, Orphanet:709] synonym: "Krause-van Schooneveld-Kivlin syndrome" EXACT [Orphanet:709] synonym: "Peters anomaly with short limb dwarfism" EXACT [Orphanet:709] -synonym: "Peters anomaly with short-limb dwarfism" RELATED [OMIM:261540] +synonym: "Peters anomaly with short-limb dwarfism" RELATED [] synonym: "Peters anomaly-short limb dwarfism syndrome" EXACT [DOID:0080201] -synonym: "Peters-plus syndrome" EXACT [DOID:0080201, OMIM:261540] +synonym: "Peters-plus syndrome" EXACT [DOID:0080201, NCIT:C123436, OMIM:261540] xref: DOID:0070312 {source="MONDO:equivalentObsolete"} xref: DOID:0080201 {source="MONDO:equivalentTo"} xref: GARD:8422 {source="MONDO:GARD"} @@ -215080,21 +215114,21 @@ subset: ordo_malformation_syndrome {source="Orphanet:2856"} subset: orphanet_rare {source="Orphanet:2856"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "female genital ducts in otherwise normal Male" RELATED [OMIM:261550] +synonym: "female genital ducts in otherwise normal Male" RELATED [] synonym: "female genital ducts in otherwise normal male" RELATED [GARD:0008435] -synonym: "hernia uteri inguinale" RELATED [OMIM:261550] +synonym: "hernia uteri inguinale" RELATED [] synonym: "persistent Muellerian duct syndrome" EXACT [DOID:0050791] -synonym: "persistent Mullerian derivatives" EXACT [Orphanet:2856] -synonym: "persistent Mullerian duct syndrome" EXACT CLINGEN_LABEL [] -synonym: "persistent mullerian duct syndrome, type I" EXACT [OMIM:261550, OMIM:genemap2] -synonym: "persistent mullerian duct syndrome, type II" EXACT [OMIM:261550, OMIM:genemap2] +synonym: "persistent Mullerian derivatives" EXACT [] +synonym: "persistent Mullerian duct syndrome" EXACT CLINGEN_LABEL [DOID:0050791, icd11.foundation:697796373, NCIT:C120188] +synonym: "persistent mullerian duct syndrome, type I" EXACT [] +synonym: "persistent mullerian duct syndrome, type II" EXACT [] synonym: "persistent mullerian duct syndrome, types 1 and 2" RELATED [GARD:0008435] -synonym: "persistent MULLERIAN duct syndrome, types I and II" RELATED [MONDO:Lexical, OMIM:261550] +synonym: "persistent MULLERIAN duct syndrome, types I and II" RELATED [MONDO:Lexical] synonym: "persistent Müllerian derivatives" EXACT [Orphanet:2856] -synonym: "persistent Müllerian duct syndrome" RELATED [Orphanet:2856] -synonym: "persistent oviduct syndrome" RELATED [OMIM:261550] +synonym: "persistent Müllerian duct syndrome" RELATED [] +synonym: "persistent oviduct syndrome" RELATED [] synonym: "PMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:261550, Orphanet:2856] -synonym: "pseudohermaphroditism, Male internal" RELATED [OMIM:261550] +synonym: "pseudohermaphroditism, Male internal" RELATED [] xref: DOID:0050791 {source="MONDO:equivalentTo"} xref: GARD:8435 {source="MONDO:GARD"} xref: ICD10CM:Q55.8 {source="Orphanet:2856", source="Orphanet:2856/attributed", source="Orphanet:2856/ntbt"} @@ -215122,10 +215156,10 @@ subset: orphanet_rare {source="Orphanet:2871"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Pfeiffer Palm Teller syndrome" RELATED [GARD:0004305] -synonym: "Pfeiffer-Palm-Teller syndrome" EXACT [OMIM:261560] -synonym: "PPT syndrome" RELATED [OMIM:261560] +synonym: "Pfeiffer-Palm-Teller syndrome" EXACT [OMIM:261560, Orphanet:2871] +synonym: "PPT syndrome" RELATED [] synonym: "short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice" RELATED [GARD:0004305] -synonym: "short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice" RELATED [OMIM:261560] +synonym: "short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice" RELATED [] xref: GARD:4305 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2871/attributed", source="Orphanet:2871/ntbt", source="Orphanet:2871"} xref: MEDGEN:342366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -215149,7 +215183,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2876"} subset: orphanet_rare {source="Orphanet:2876"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PHAVER syndrome" EXACT [OMIM:261575] +synonym: "PHAVER syndrome" EXACT [OMIM:261575, Orphanet:2876] synonym: "Powell-Chandra-Saal syndrome" EXACT [Orphanet:2876] synonym: "pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects" RELATED [GARD:0004465] xref: GARD:4465 {source="MONDO:GARD"} @@ -215184,23 +215218,23 @@ subset: ordo_disorder {source="Orphanet:716"} subset: orphanet_rare {source="Orphanet:716"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Folling disease" RELATED EXCLUDE [OMIM:261600] -synonym: "Folling's disease" RELATED EXCLUDE [DOID:9281] +synonym: "Folling disease" RELATED EXCLUDE [] +synonym: "Folling's disease" RELATED EXCLUDE [] synonym: "Folling's syndrome" RELATED EXCLUDE [] -synonym: "Følling's disease" RELATED EXCLUDE [DOID:9281] -synonym: "HPA, non-PKU mild" RELATED [OMIM:261600] -synonym: "hyperphenylalaninemia, non-PKU mild" EXACT [OMIM:261600, OMIM:genemap2] +synonym: "Følling's disease" RELATED EXCLUDE [] +synonym: "HPA, non-PKU mild" RELATED [] +synonym: "hyperphenylalaninemia, non-PKU mild" EXACT [] synonym: "imbecilitus phenylpyruvica" RELATED [] -synonym: "maternal phenylketonuria" RELATED EXCLUDE [DOID:9281] -synonym: "oligophrenia Phenylpyruvica" RELATED [OMIM:261600] +synonym: "maternal phenylketonuria" RELATED EXCLUDE [] +synonym: "oligophrenia Phenylpyruvica" RELATED [] synonym: "oligophrenia phenylpyruvica" RELATED [] synonym: "PAH deficiency" EXACT [OMIM:261600, Orphanet:716] -synonym: "phenylalanine hydroxylase deficiency" EXACT [OMIM:261600, Orphanet:716] +synonym: "phenylalanine hydroxylase deficiency" EXACT [icd11.foundation:444122923, OMIM:261600, Orphanet:716] synonym: "phenylalaninemia" EXACT [DOID:9281] -synonym: "phenylketonuria" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:261600] -synonym: "phenylketonuria, maternal" RELATED [OMIM:261600] +synonym: "phenylketonuria" EXACT CLINGEN_LABEL [DOID:9281, icd11.foundation:444122923, MONDO:Lexical, NCIT:C81315, OMIM:261600, Orphanet:716] +synonym: "phenylketonuria, maternal" RELATED [] synonym: "phenylpyruvic oligophrenia" RELATED [] -synonym: "PKU" EXACT ABBREVIATION [DOID:9281, MONDO:Lexical, OMIM:261600, Orphanet:716] +synonym: "PKU" EXACT ABBREVIATION [DOID:9281, MONDO:Lexical, NCIT:C81315, OMIM:261600, Orphanet:716] xref: DOID:9281 {source="MONDO:equivalentTo"} xref: GARD:7383 {source="MONDO:GARD"} xref: ICD10CM:E70.0 {source="Orphanet:716", source="Orphanet:716/attributed", source="Orphanet:716/ntbt"} @@ -215246,20 +215280,20 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:226"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "6,7-dihydropteridine reductase activity disease" EXACT [MONDO:design_pattern] -synonym: "DHPR deficiency" RELATED [OMIM:261630] -synonym: "dihydropteridine reductase deficiency" EXACT CLINGEN_LABEL [OMIM:261630] +synonym: "DHPR deficiency" RELATED [] +synonym: "dihydropteridine reductase deficiency" EXACT CLINGEN_LABEL [icd11.foundation:1931239861, NCIT:C138173, OMIM:261630, Orphanet:226] synonym: "disorder of 6,7-dihydropteridine reductase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] -synonym: "HPABH4C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:261630] +synonym: "HPABH4C" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hyperphenylalaninemia due to dihydropteridine reductase deficiency" EXACT [Orphanet:226] synonym: "hyperphenylalaninemia, BH-4-deficient, C" RELATED [GARD:0004319] synonym: "hyperphenylalaninemia, BH4-deficient C" EXACT [NCIT:C138173] -synonym: "hyperphenylalaninemia, BH4-deficient, C" RELATED [MONDO:Lexical, OMIM:261630] -synonym: "hyperphenylalaninemia, Bh4-deficient, type C" EXACT [MONDORULE:1, OMIM:261630] -synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency" RELATED [OMIM:261630] +synonym: "hyperphenylalaninemia, BH4-deficient, C" RELATED [MONDO:Lexical] +synonym: "hyperphenylalaninemia, Bh4-deficient, type C" EXACT [MONDORULE:1] +synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency" RELATED [] synonym: "phenylketonuria type 2" EXACT [Orphanet:226] synonym: "PKU type 2" EXACT [Orphanet:226] -synonym: "Qdpr deficiency" RELATED [OMIM:261630] -synonym: "quinoid dihydropteridine reductase deficiency" RELATED [OMIM:261630] +synonym: "Qdpr deficiency" RELATED [] +synonym: "quinoid dihydropteridine reductase deficiency" RELATED [] xref: DOID:0081130 {source="MONDO:equivalentTo"} xref: GARD:4319 {source="MONDO:GARD"} xref: ICD10CM:E70.1 {source="Orphanet:226/attributed", source="Orphanet:226/ntbt", source="Orphanet:226"} @@ -215293,19 +215327,19 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:13"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "6-pyruvoyl tetrahydropterin synthase deficiency" EXACT [NCIT:C138171] -synonym: "6-pyruvoyl-tetrahydropterin synthase deficiency" EXACT [DOID:0090106] -synonym: "BH4-deficient hyperphenylalaninemia A" EXACT CLINGEN_LABEL [] -synonym: "Bh4-deficient hyperphenylalaninemia type A" EXACT [DOID:0090106, MONDORULE:1] -synonym: "HPABH4A" EXACT ABBREVIATION [DOID:0090106, MONDO:Lexical, OMIM:261640] +synonym: "6-pyruvoyl-tetrahydropterin synthase deficiency" EXACT [DOID:0090106, OMIM:261640, Orphanet:13] +synonym: "BH4-deficient hyperphenylalaninemia A" EXACT CLINGEN_LABEL [DOID:0090106] +synonym: "Bh4-deficient hyperphenylalaninemia type A" EXACT [MONDORULE:1] +synonym: "HPABH4A" EXACT ABBREVIATION [DOID:0090106, MONDO:Lexical, NCIT:C138171, OMIM:261640] synonym: "hyperphenylalanemia, BH4-deficient, A" RELATED [GARD:0005682] synonym: "hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency" RELATED [GARD:0005682] synonym: "hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" EXACT [DOID:0090106, Orphanet:13] synonym: "hyperphenylalaninemia, BH4-deficient A" EXACT [NCIT:C138171] -synonym: "hyperphenylalaninemia, BH4-deficient, A" RELATED [MESH:C535325, MONDO:Lexical, OMIM:261640] -synonym: "hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency" RELATED [OMIM:261640] +synonym: "hyperphenylalaninemia, BH4-deficient, A" RELATED [MESH:C535325, MONDO:Lexical] +synonym: "hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency" RELATED [] synonym: "hyperphenylalaninemia, BH4-deficient, type A" RELATED [MESH:C535325] -synonym: "hyperphenylalaninemia, Bh4-deficient, type a" EXACT [MONDORULE:1, OMIM:261640] -synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency" RELATED [MESH:C535325, OMIM:261640] +synonym: "hyperphenylalaninemia, Bh4-deficient, type a" EXACT [MONDORULE:1] +synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency" RELATED [MESH:C535325] synonym: "PTS deficiency" EXACT [DOID:0090106, MESH:C535325, OMIM:261640] synonym: "PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included" RELATED [MESH:C535325] synonym: "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" EXACT [DOID:0090106] @@ -215332,12 +215366,12 @@ name: phosphoenolpyruvate carboxykinase deficiency, mitochondrial subset: gard_rare {source="GARD:4279", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PCK2 deficiency" RELATED [OMIM:261650] -synonym: "PCKDM" RELATED ABBREVIATION [OMIM:261650] +synonym: "PCK2 deficiency" RELATED [] +synonym: "PCKDM" RELATED ABBREVIATION [] synonym: "PEPCK 2 deficiency" RELATED [GARD:0004279] -synonym: "PEPCK deficiency, mitochondrial" EXACT [OMIM:261650, OMIM:genemap2] +synonym: "PEPCK deficiency, mitochondrial" EXACT [] synonym: "PEPCK2" RELATED ABBREVIATION [GARD:0004279] -synonym: "PEPCK2 deficiency" RELATED [OMIM:261650] +synonym: "PEPCK2 deficiency" RELATED [] synonym: "phosphoenolpyruvate carboxykinase 2 deficiency" RELATED [GARD:0004279] synonym: "phosphoenolpyruvate carboxykinase deficiency, mitochondrial" EXACT [OMIM:261650] xref: GARD:4279 {source="MONDO:GARD"} @@ -215361,24 +215395,24 @@ subset: ordo_disorder {source="Orphanet:97234"} subset: orphanet_rare {source="Orphanet:97234"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glycogen storage disease 10" RELATED [OMIM:261670] +synonym: "glycogen storage disease 10" RELATED [] synonym: "glycogen storage disease caused by mutation in PGAM2" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease type 10" EXACT [MONDORULE:2, OMIM:261670] -synonym: "glycogen storage disease X" RELATED [MONDO:Lexical, OMIM:261670] -synonym: "glycogenosis due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234] -synonym: "GSD 10" RELATED [OMIM:261670] -synonym: "GSD due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234] +synonym: "glycogen storage disease type 10" EXACT [MONDORULE:2] +synonym: "glycogen storage disease X" RELATED [MONDO:Lexical] +synonym: "glycogenosis due to phosphoglycerate mutase deficiency" EXACT [] +synonym: "GSD 10" RELATED [] +synonym: "GSD due to phosphoglycerate mutase deficiency" EXACT [] synonym: "GSD type 10" EXACT [Orphanet:97234] -synonym: "GSD10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:261670] +synonym: "GSD10" RELATED ABBREVIATION [MONDO:Lexical] synonym: "GSDX" RELATED ABBREVIATION [GARD:0009964] -synonym: "muscle phosphoglycerate mutase deficiency" EXACT [Orphanet:97234] -synonym: "myopathy due to Phosphoglycerate mutase deficiency" RELATED [OMIM:261670] -synonym: "myopathy due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234] +synonym: "muscle phosphoglycerate mutase deficiency" EXACT [NCIT:C131647, Orphanet:97234] +synonym: "myopathy due to Phosphoglycerate mutase deficiency" RELATED [] +synonym: "myopathy due to phosphoglycerate mutase deficiency" EXACT [OMIM:261670, Orphanet:97234] synonym: "PGAM deficiency" RELATED [GARD:0009964] synonym: "PGAM2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PGAMM deficiency" RELATED [OMIM:261670] +synonym: "PGAMM deficiency" RELATED [] synonym: "Phosphoglycerate mutase deficiency" RELATED [GARD:0009964] -synonym: "Phosphoglycerate mutase, muscle, deficiency of" RELATED [OMIM:261670] +synonym: "Phosphoglycerate mutase, muscle, deficiency of" RELATED [] xref: GARD:9964 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:97234", source="Orphanet:97234/attributed", source="Orphanet:97234/ntbt"} xref: MEDGEN:120613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -215405,11 +215439,11 @@ subset: gard_rare {source="GARD:4278", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PCK1 deficiency, cytosolic" RELATED [OMIM:261680] -synonym: "PCKDC" RELATED ABBREVIATION [OMIM:261680] +synonym: "PCK1 deficiency, cytosolic" RELATED [] +synonym: "PCKDC" RELATED ABBREVIATION [] synonym: "PEP carboxykinase deficiency" RELATED [GARD:0004278] synonym: "PEPCK 1 deficiency" RELATED [GARD:0004278] -synonym: "PEPCK deficiency, cytosolic" RELATED [OMIM:261680] +synonym: "PEPCK deficiency, cytosolic" RELATED [] synonym: "PEPCK1 deficiency" RELATED [] synonym: "phosphoenolpyruvate carboxykinase deficiency" RELATED [GARD:0004278] synonym: "phosphoenolpyruvate carboxykinase deficiency, cytosolic" EXACT [OMIM:261680] @@ -215435,13 +215469,13 @@ subset: ordo_disorder {source="Orphanet:439854"} subset: orphanet_rare {source="Orphanet:439854"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease" RELATED [Orphanet:439854] +synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease" RELATED [] synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogenosis" EXACT [DOID:0090101, Orphanet:439854] synonym: "fatal congenital hypertrophic cardiomyopathy due to GSD" EXACT [DOID:0090101, Orphanet:439854] synonym: "fatal congenital nonlysosomal cardiac glycogenosis" EXACT [DOID:0090101] synonym: "glycogen storage disease caused by mutation in PRKAG2" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease of heart" RELATED [OMIM:261740] -synonym: "glycogen storage disease of heart, lethal congenital" RELATED [OMIM:261740] +synonym: "glycogen storage disease of heart" RELATED [] +synonym: "glycogen storage disease of heart, lethal congenital" RELATED [] synonym: "phosphorylase kinase deficiency of heart" EXACT [DOID:0090101, OMIM:261740] synonym: "PRKAG2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090101 {source="MONDO:equivalentTo"} @@ -215475,22 +215509,22 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glycogen storage disease 9B" EXACT [https://clinicalgenome.org/affiliation/40097/] synonym: "glycogen storage disease caused by mutation in PHKB" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" RELATED [Orphanet:79240] -synonym: "glycogen storage disease IXb" EXACT [MONDO:Lexical, OMIM:261750] +synonym: "glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" RELATED [] +synonym: "glycogen storage disease IXb" EXACT [DOID:0111041, MONDO:Lexical, OMIM:261750] synonym: "glycogen storage disease type 9B" EXACT [DOID:0111041, Orphanet:79240] -synonym: "glycogen storage disease type IXb" EXACT [DOID:0111041, MONDORULE:5, OMIM:261750, Orphanet:79240] +synonym: "glycogen storage disease type IXb" EXACT [DOID:0111041, MONDORULE:5, Orphanet:79240] synonym: "glycogenosis due to liver and muscle phosphorylase kinase deficiency" EXACT [DOID:0111041, Orphanet:79240] -synonym: "glycogenosis of liver and muscle, autosomal recessive" RELATED [OMIM:261750] +synonym: "glycogenosis of liver and muscle, autosomal recessive" RELATED [] synonym: "glycogenosis type 9B" EXACT [DOID:0111041, Orphanet:79240] synonym: "glycogenosis type IXb" EXACT [DOID:0111041, Orphanet:79240] synonym: "GSD due to liver and muscle phosphorylase kinase deficiency" EXACT [DOID:0111041, Orphanet:79240] -synonym: "GSD IXb" EXACT [DOID:0111041, https://www.ncbi.nlm.nih.gov/books/NBK55061/, OMIM:261750] +synonym: "GSD IXb" EXACT ABBREVIATION [DOID:0111041, https://www.ncbi.nlm.nih.gov/books/NBK55061/, OMIM:261750] synonym: "GSD type 9B" EXACT [DOID:0111041, Orphanet:79240] synonym: "GSD type IXb" EXACT [DOID:0111041, Orphanet:79240] synonym: "GSD9B" EXACT ABBREVIATION [DOID:0111041, MONDO:Lexical, OMIM:261750] synonym: "PHKB glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PHKB-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] -synonym: "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" RELATED [OMIM:261750] +synonym: "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" RELATED [] xref: DOID:0111041 {source="MONDO:equivalentTo"} xref: GARD:16711 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="DOID:0111041", source="Orphanet:79240", source="Orphanet:79240/attributed", source="Orphanet:79240/ntbt"} @@ -215522,18 +215556,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:718"} subset: orphanet_rare {source="Orphanet:718"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glossoptosis, micrognathia, and cleft palate" RELATED [MESH:D010855, OMIM:261800] +synonym: "glossoptosis, micrognathia, and cleft palate" RELATED [MESH:D010855] synonym: "isolated Pierre Robin sequence" EXACT [Orphanet:718] -synonym: "isolated Pierre Robin syndrome" RELATED [Orphanet:718] +synonym: "isolated Pierre Robin syndrome" RELATED [] synonym: "isolated Pierre-Robin syndrome" EXACT CLINGEN_LABEL [] -synonym: "Pierre Robin Sequence" EXACT [NORD:1579] -synonym: "Pierre Robin sequence" RELATED [MESH:D010855, OMIM:261800] -synonym: "Pierre Robin syndrome" RELATED [MONDO:Lexical, OMIM:261800] +synonym: "Pierre Robin Sequence" EXACT [icd11.foundation:136361299, NCIT:C85010, NORD:1579, OMIM:261800] +synonym: "Pierre Robin sequence" RELATED [MESH:D010855] +synonym: "Pierre Robin syndrome" RELATED [MONDO:Lexical] synonym: "Pierre Robin syndrome skeletal dysplasia polydactyly" RELATED [GARD:0004354] synonym: "Pierre Robin's sequence" RELATED [MESH:D010855] synonym: "Pierre Robins sequence" RELATED [MESH:D010855] synonym: "Pierre-Robin syndrome" RELATED [MESH:D010855] -synonym: "PRBNS" RELATED ABBREVIATION [MESH:D010855, MONDO:Lexical, OMIM:261800] +synonym: "PRBNS" RELATED ABBREVIATION [MESH:D010855, MONDO:Lexical] synonym: "Robin sequence" RELATED [MESH:D010855] synonym: "Robin syndrome, Pierre" RELATED [MESH:D010855] synonym: "sequence, Pierre Robin" RELATED [MESH:D010855] @@ -215569,11 +215603,11 @@ subset: orphanet_rare {source="Orphanet:2889"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "coarse, dry, lusterless hair which breaks off easily" RELATED [GARD:0004361] -synonym: "pili torti" EXACT [MONDO:ambiguous] +synonym: "pili torti" EXACT [icd11.foundation:813238041, MONDO:ambiguous, Orphanet:2889] synonym: "pili torti (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "pili torti, early-onset" RELATED [OMIM:261900] -synonym: "pili torti, Ronchese type" RELATED [OMIM:261900] -synonym: "twisted hair" EXACT [OMIM:261900, Orphanet:2889] +synonym: "pili torti, early-onset" RELATED [] +synonym: "pili torti, Ronchese type" RELATED [] +synonym: "twisted hair" EXACT [icd11.foundation:813238041, OMIM:261900, Orphanet:2889] xref: GARD:4361 {source="MONDO:GARD"} xref: HP:0003777 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q84.1 {source="Orphanet:2889", source="Orphanet:2889/attributed", source="Orphanet:2889/ntbt"} @@ -215598,8 +215632,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2891"} subset: orphanet_rare {source="Orphanet:2891"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "abnormal hair, joint laxity, and developmental delay" EXACT [OMIM:261990, OMIM:genemap2] -synonym: "pili torti and developmental delay" RELATED [OMIM:261990] +synonym: "abnormal hair, joint laxity, and developmental delay" EXACT [OMIM:261990] +synonym: "pili torti and developmental delay" RELATED [] synonym: "pili torti developmental delay neurological abnormalities" RELATED [GARD:0004362] xref: GARD:4362 {source="MONDO:GARD"} xref: MEDGEN:342358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -215621,15 +215655,15 @@ subset: ordo_disorder {source="Orphanet:123"} subset: orphanet_rare {source="Orphanet:123"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bjornstad syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:262000] -synonym: "BJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:262000] -synonym: "BJörnstad syndrome" RELATED [Orphanet:123] -synonym: "Björnstad Syndrome" EXACT [NORD:859] +synonym: "Bjornstad syndrome" EXACT CLINGEN_LABEL [DOID:0050677, MONDO:Lexical, OMIM:262000] +synonym: "BJS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "BJörnstad syndrome" RELATED [] +synonym: "Björnstad Syndrome" EXACT [NORD:859, Orphanet:123] synonym: "deafness and pili torti, Bjornstad type" RELATED [GARD:0000022] -synonym: "deafness-pili torti-hypogonadism syndrome" EXACT [Orphanet:123] -synonym: "pili torti and nerve deafness" RELATED [OMIM:262000] +synonym: "deafness-pili torti-hypogonadism syndrome" EXACT [DOID:0050677, Orphanet:123] +synonym: "pili torti and nerve deafness" RELATED [] synonym: "pili torti-sensorineural hearing loss" RELATED [GARD:0000022] -synonym: "PTD" RELATED ABBREVIATION [OMIM:262000] +synonym: "PTD" RELATED ABBREVIATION [] synonym: "PTND" RELATED ABBREVIATION [GARD:0000022] xref: DOID:0050677 {source="MONDO:equivalentTo"} xref: GARD:22 {source="MONDO:GARD"} @@ -215657,8 +215691,8 @@ subset: orphanet_rare {source="Orphanet:2892"} subset: rare synonym: "Euhidrotic ectodermal dysplasia" EXACT [Orphanet:2892] synonym: "Kopysc-Barczyk-Krol syndrome" EXACT [Orphanet:2892] -synonym: "PILODENTAL dysplasia with refractive errors" RELATED [OMIM:262020] -synonym: "Trichodental dysplasia with hyperopia" RELATED [OMIM:262020] +synonym: "PILODENTAL dysplasia with refractive errors" RELATED [] +synonym: "Trichodental dysplasia with hyperopia" RELATED [] xref: GARD:277 {source="MONDO:GARD"} xref: MEDGEN:376661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535763 {source="MONDO:equivalentTo"} @@ -215678,9 +215712,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:769"} subset: orphanet_rare {source="Orphanet:769"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Mendenhall syndrome" RELATED [OMIM:262190] -synonym: "pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities" RELATED [OMIM:262190] -synonym: "Rabson-Mendenhall syndrome" EXACT [OMIM:262190] +synonym: "Mendenhall syndrome" RELATED [] +synonym: "pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities" RELATED [] +synonym: "Rabson-Mendenhall syndrome" EXACT [icd11.foundation:1018973126, NCIT:C131000, OMIM:262190, Orphanet:769] xref: GARD:226 {source="MONDO:GARD"} xref: ICD10CM:E13 {source="Orphanet:769", source="Orphanet:769/attributed", source="Orphanet:769/ntbt"} xref: icd11.foundation:1018973126 {source="MONDO:equivalentTo"} @@ -215708,23 +215742,23 @@ subset: gard_rare {source="GARD:9650", source="MONDO:GARD"} subset: rare synonym: "ACHM1" EXACT ABBREVIATION [DOID:0110008] synonym: "ACHM1 (formerly)" RELATED [GARD:0009650] -synonym: "ACHM1, formerly" RELATED [OMIM:262300] +synonym: "ACHM1, formerly" RELATED [] synonym: "ACHM3" EXACT ABBREVIATION [DOID:0110008, MONDO:Lexical, OMIM:262300] -synonym: "achromatopsia 3" EXACT [MONDO:Lexical, OMIM:262300] +synonym: "achromatopsia 3" EXACT [DOID:0110008, MONDO:Lexical, OMIM:262300] synonym: "achromatopsia caused by mutation in CNGB3" EXACT [MONDO:design_pattern] -synonym: "achromatopsia type 3" EXACT [DOID:0110008, MONDORULE:1, OMIM:262300] -synonym: "achromatopsia with myopia" RELATED [OMIM:262300] +synonym: "achromatopsia type 3" EXACT [MONDORULE:1] +synonym: "achromatopsia with myopia" RELATED [] synonym: "CNGB3 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Pingelapese blindness" RELATED EXCLUDE [DOID:0110008] +synonym: "Pingelapese blindness" RELATED EXCLUDE [] synonym: "RMCH1" EXACT ABBREVIATION [DOID:0110008] synonym: "RMCH1 (formerly)" RELATED [GARD:0009650] synonym: "rod monochromacy 1" EXACT [DOID:0110008] synonym: "Rod monochromacy 1 (formerly)" RELATED [GARD:0009650] -synonym: "rod monochromacy 1, formerly" RELATED [OMIM:262300] -synonym: "rod monochromatism 1" EXACT [DOID:0110008, OMIM:262300] +synonym: "rod monochromacy 1, formerly" RELATED [] +synonym: "rod monochromatism 1" EXACT [DOID:0110008] synonym: "Rod monochromatism 1 (formerly)" RELATED [GARD:0009650] -synonym: "rod monochromatism 1, formerly" RELATED [OMIM:262300] -synonym: "total colorblindness with myopia" RELATED [OMIM:262300] +synonym: "rod monochromatism 1, formerly" RELATED [] +synonym: "total colorblindness with myopia" RELATED [] xref: DOID:0110008 {source="MONDO:equivalentTo"} xref: GARD:9650 {source="MONDO:GARD"} xref: MEDGEN:340413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -215755,20 +215789,20 @@ synonym: "congenital isolated GH deficiency type IA" EXACT [Orphanet:231662] synonym: "congenital isolated growth hormone deficiency" RELATED [GARD:0007399] synonym: "congenital isolated growth hormone deficiency type IA" EXACT [Orphanet:231662] synonym: "Growth hormone deficiency, isolated autosomal recessive" RELATED [GARD:0007399] -synonym: "Growth hormone deficiency, isolated, autosomal recessive" RELATED [OMIM:262400] -synonym: "growth hormone deficiency, isolated, type IA" EXACT [OMIM:262400, OMIM:genemap2] -synonym: "IGHD 1A" RELATED [OMIM:262400] -synonym: "IGHD IA" EXACT [DOID:0060873] -synonym: "IGHD1A" RELATED ABBREVIATION [GARD:0007399, MONDO:Lexical, OMIM:262400] +synonym: "Growth hormone deficiency, isolated, autosomal recessive" RELATED [] +synonym: "growth hormone deficiency, isolated, type IA" EXACT [] +synonym: "IGHD 1A" RELATED [] +synonym: "IGHD IA" EXACT ABBREVIATION [DOID:0060873] +synonym: "IGHD1A" RELATED ABBREVIATION [GARD:0007399, MONDO:Lexical] synonym: "ILLIG type growth hormone deficiency" RELATED [GARD:0007399] -synonym: "Illig-type Growth hormone deficiency" RELATED [OMIM:262400] -synonym: "Illig-type growth hormone deficiency" EXACT [DOID:0060873] +synonym: "Illig-type Growth hormone deficiency" RELATED [] +synonym: "Illig-type growth hormone deficiency" EXACT [DOID:0060873, OMIM:262400] synonym: "isolated growth hormone deficiency type 1A" RELATED [GARD:0007399] -synonym: "isolated growth hormone deficiency type IA" EXACT [GARD:0007399] -synonym: "isolated Growth hormone deficiency, type 1A" RELATED [OMIM:262400] -synonym: "isolated growth hormone deficiency, type IA" RELATED [MONDO:Lexical, OMIM:262400] +synonym: "isolated growth hormone deficiency type IA" EXACT [DOID:0060873, GARD:0007399, Orphanet:231662] +synonym: "isolated Growth hormone deficiency, type 1A" RELATED [] +synonym: "isolated growth hormone deficiency, type IA" RELATED [MONDO:Lexical] synonym: "non-acquired isolated growth hormone deficiency" RELATED [GARD:0007399] -synonym: "pituitary dwarfism 1" RELATED [GARD:0007399, OMIM:262400] +synonym: "pituitary dwarfism 1" RELATED [GARD:0007399] synonym: "pituitary dwarfism I" EXACT [DOID:0060873] synonym: "primordial dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400] synonym: "sexual ateleiotic dwarfism" EXACT [DOID:0060873, GARD:0007399, OMIM:262400] @@ -215801,14 +215835,14 @@ subset: rare synonym: "complete growth hormone insensitivity" EXACT [Orphanet:633] synonym: "GH receptor deficiency" EXACT [Orphanet:633] synonym: "Growth Hormone Insensitivity" EXACT [NORD:1209] -synonym: "growth hormone insensitivity syndrome" RELATED [OMIM:262500] -synonym: "Growth hormone receptor deficiency" EXACT [OMIM:262500, Orphanet:633] +synonym: "growth hormone insensitivity syndrome" RELATED [] +synonym: "Growth hormone receptor deficiency" EXACT [NCIT:C130994, OMIM:262500, Orphanet:633] synonym: "Laron dwarfism" RELATED [GARD:0006859] -synonym: "Laron syndrome" EXACT [OMIM:262500] +synonym: "Laron syndrome" EXACT [DOID:9521, NCIT:C130994, OMIM:262500, Orphanet:633] synonym: "Laron type pituitary dwarfism I" RELATED [GARD:0006859] synonym: "Laron-type dwarfism" EXACT [Orphanet:633] synonym: "Laron-type isolated somatotropin defect" EXACT [DOID:9521] -synonym: "pituitary dwarfism 2" RELATED [OMIM:262500] +synonym: "pituitary dwarfism 2" RELATED [] synonym: "pituitary dwarfism II" RELATED [GARD:0006859] synonym: "primary GH insensitivity" EXACT [Orphanet:633] synonym: "primary GH resistance" EXACT [Orphanet:633] @@ -215839,14 +215873,14 @@ def: "Any combined pituitary hormone deficiencies, genetic form in which the cau subset: gard_rare {source="GARD:15222", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ateliotic dwarfism with hypogonadism" RELATED [OMIM:262600] +synonym: "ateliotic dwarfism with hypogonadism" RELATED [] synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1" EXACT [MONDO:design_pattern] -synonym: "CPHD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:262600] -synonym: "Hanhart dwarfism" RELATED [OMIM:262600] -synonym: "panhypopituitarism" RELATED [OMIM:262600] -synonym: "pituitary dwarfism 3" RELATED [OMIM:262600] +synonym: "CPHD2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Hanhart dwarfism" RELATED [] +synonym: "panhypopituitarism" RELATED [] +synonym: "pituitary dwarfism 3" RELATED [] synonym: "pituitary hormone deficiency, combined, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:262600] -synonym: "pituitary hormone deficiency, combined, type 2" EXACT [MONDORULE:1, OMIM:262600] +synonym: "pituitary hormone deficiency, combined, type 2" EXACT [MONDORULE:1] synonym: "PROP1 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15222 {source="MONDO:GARD"} xref: MEDGEN:209236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -215870,10 +215904,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:629"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Biodefective Growth hormone" RELATED [OMIM:262650] -synonym: "KOWARSKI syndrome" RELATED [OMIM:262650] -synonym: "Kowarski syndrome" EXACT [Orphanet:629] -synonym: "pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin" RELATED [OMIM:262650] +synonym: "Biodefective Growth hormone" RELATED [] +synonym: "KOWARSKI syndrome" RELATED [] +synonym: "Kowarski syndrome" EXACT [icd11.foundation:1665498704, OMIM:262650, Orphanet:629] +synonym: "pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin" RELATED [] xref: GARD:408 {source="MONDO:GARD"} xref: ICD10CM:E23.0 {source="Orphanet:629", source="Orphanet:629/attributed", source="Orphanet:629/ntbt"} xref: icd11.foundation:1665498704 {source="MONDO:equivalentTo"} @@ -215896,14 +215930,14 @@ subset: ordo_disorder {source="Orphanet:85442"} subset: orphanet_rare {source="Orphanet:85442"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CPHD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:262700] +synonym: "CPHD4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pituitary hormone deficiency, combined 4" RELATED [GARD:0010604] synonym: "pituitary hormone deficiency, combined with or without cerebellar defects" RELATED [GARD:0010604] -synonym: "pituitary hormone deficiency, combined, 4" RELATED [MONDO:Lexical, OMIM:262700] -synonym: "pituitary hormone deficiency, combined, type 4" EXACT [MONDORULE:1, OMIM:262700] -synonym: "pituitary hormone deficiency, combined, with or without cerebellar defects" RELATED [OMIM:262700] +synonym: "pituitary hormone deficiency, combined, 4" RELATED [MONDO:Lexical] +synonym: "pituitary hormone deficiency, combined, type 4" EXACT [MONDORULE:1] +synonym: "pituitary hormone deficiency, combined, with or without cerebellar defects" RELATED [] synonym: "short stature, pituitary and cerebellar defects and small sella turcica" RELATED [GARD:0010604] -synonym: "short stature, pituitary and cerebellar defects, and small sella turcica" RELATED [OMIM:262700] +synonym: "short stature, pituitary and cerebellar defects, and small sella turcica" RELATED [] xref: GARD:10604 {source="MONDO:GARD"} xref: MEDGEN:394816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567492 {source="MONDO:equivalentTo"} @@ -215949,12 +215983,12 @@ subset: ordo_disorder {source="Orphanet:79"} subset: orphanet_rare {source="Orphanet:79"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alpha-2-plasmin inhibitor deficiency" EXACT CLINGEN_LABEL [OMIM:262850] +synonym: "alpha-2-plasmin inhibitor deficiency" EXACT CLINGEN_LABEL [DOID:0060601, OMIM:262850] synonym: "anti-plasmin deficiency, congenital" RELATED [GARD:0000731] -synonym: "antiplasmin deficiency" RELATED [OMIM:262850] +synonym: "antiplasmin deficiency" RELATED [] synonym: "antiplasmin deficiency, congenital" RELATED [GARD:0000731] synonym: "antiplasmin defiency" EXACT [DOID:0060601] -synonym: "congenital alpha2-antiplasmin deficiency" RELATED [Orphanet:79] +synonym: "congenital alpha2-antiplasmin deficiency" RELATED [] synonym: "plasmin inhibitor deficiency" EXACT [DOID:0060601, OMIM:262850] xref: DOID:0060601 {source="MONDO:equivalentTo"} xref: GARD:731 {source="MONDO:GARD"} @@ -215976,7 +216010,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0009884 name: platelet prostacyclin receptor defect synonym: "platelet prostacyclin receptor defect" EXACT [OMIM:262875] -synonym: "Vienna-Hietzing defect" RELATED [OMIM:262875] +synonym: "Vienna-Hietzing defect" RELATED [] xref: MEDGEN:337912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564884 {source="MONDO:equivalentTo"} xref: OMIM:262875 {source="MONDO:equivalentTo"} @@ -215996,16 +216030,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDPLT7" EXACT ABBREVIATION [DOID:0111052] synonym: "bleeding abnormality due to deficiency of platelet biding of factor X" EXACT [DOID:0111052] -synonym: "bleeding Abnormality due to deficiency of Platelet binding of Factor 10" RELATED [OMIM:262890] -synonym: "bleeding disorder, Platelet-type, 7" RELATED [OMIM:262890] +synonym: "bleeding Abnormality due to deficiency of Platelet binding of Factor 10" RELATED [] +synonym: "bleeding disorder, Platelet-type, 7" RELATED [] synonym: "familial prothrombin consumption inhibitor" EXACT [DOID:0111052] synonym: "familial prothrombin conversion defect" EXACT [DOID:0111052] synonym: "Platelet factor X receptor deficiency" RELATED [GARD:0004777] synonym: "platelet-type bleeding disorder 7" EXACT [DOID:0111052] synonym: "prothrombin consumption deficiency" EXACT [DOID:0111052, OMIM:262890] -synonym: "prothrombin consumption inhibitor, familial" RELATED [OMIM:262890] -synonym: "prothrombin conversion defect, familial" RELATED [OMIM:262890] -synonym: "Scott syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:262890] +synonym: "prothrombin consumption inhibitor, familial" RELATED [] +synonym: "prothrombin conversion defect, familial" RELATED [] +synonym: "Scott syndrome" EXACT CLINGEN_LABEL [DOID:0111052, icd11.foundation:186013982, MONDO:Lexical, OMIM:262890, Orphanet:806] synonym: "SCTS" EXACT ABBREVIATION [DOID:0111052, MONDO:Lexical, OMIM:262890] xref: DOID:0111052 {source="MONDO:equivalentTo"} xref: GARD:4777 {source="MONDO:GARD"} @@ -216044,15 +216078,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:98852"} subset: orphanet_rare {source="Orphanet:98852"} subset: rare -synonym: "desquamative interstitial pneumonia" EXACT [MONDO:0020335] -synonym: "DIP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263000] +synonym: "desquamative interstitial pneumonia" EXACT [DOID:0050158, icd11.foundation:1620001155, MONDO:0020335, NCIT:C35288, Orphanet:98852] +synonym: "DIP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "familial desquamative interstitial pneumonitis" EXACT [DOID:0050158] -synonym: "ILD, desquamative" RELATED [OMIM:263000] -synonym: "interstitial lung disease, desquamative" RELATED [OMIM:263000] -synonym: "interstitial pneumonitis, desquamative, familial" RELATED [MONDO:Lexical, OMIM:263000] -synonym: "pneumonia, desquamative interstitial, familial" RELATED [OMIM:263000] -synonym: "pneumonitis, desquamative interstitial, familial" RELATED [OMIM:263000] -synonym: "RBILD" EXACT ABBREVIATION [DOID:0050158] +synonym: "ILD, desquamative" RELATED [] +synonym: "interstitial lung disease, desquamative" RELATED [] +synonym: "interstitial pneumonitis, desquamative, familial" RELATED [MONDO:Lexical] +synonym: "pneumonia, desquamative interstitial, familial" RELATED [] +synonym: "pneumonitis, desquamative interstitial, familial" RELATED [] +synonym: "RBILD" EXACT ABBREVIATION [DOID:0050158, NCIT:C35288] synonym: "respiratory bronchiolitis interstitial lung disease" EXACT [NCIT:C35288] synonym: "respiratory bronchiolitis-associated interstitial lung disease" EXACT [DOID:0050158] xref: DOID:0050158 {source="MONDO:equivalentTo"} @@ -216097,14 +216131,14 @@ subset: ordo_disorder {source="Orphanet:731"} subset: orphanet_rare {source="Orphanet:731"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AR-PKD" EXACT [Orphanet:731] -synonym: "ARPKD" EXACT ABBREVIATION [DOID:0110861, MONDO:Lexical] -synonym: "autosomal recessive polycystic kidney" EXACT [NCIT:C84579] -synonym: "PKHD1" RELATED ABBREVIATION [DOID:0110861] -synonym: "polycystic kidney and hepatic disease 1" NARROW [DOID:0110861] +synonym: "AR-PKD" EXACT ABBREVIATION [DOID:0110861, Orphanet:731] +synonym: "ARPKD" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "autosomal recessive polycystic kidney" EXACT [icd11.foundation:1424110943, NCIT:C84579] +synonym: "PKHD1" RELATED ABBREVIATION [] +synonym: "polycystic kidney and hepatic disease 1" NARROW [] synonym: "polycystic kidney disease, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive] -synonym: "polycystic kidney disease, infantile type" EXACT [NCIT:C84579] -synonym: "polycystic kidney disease, infantile, type I" NARROW [DOID:0110861] +synonym: "polycystic kidney disease, infantile type" EXACT [icd11.foundation:1424110943, NCIT:C84579] +synonym: "polycystic kidney disease, infantile, type I" NARROW [] xref: DOID:0110861 {source="MONDO:equivalentTo"} xref: GARD:8378 {source="MONDO:GARD"} xref: ICD10CM:Q61.1 {source="Orphanet:731", source="Orphanet:731/e", source="DOID:0110861", source="Orphanet:731/specific"} @@ -216135,10 +216169,10 @@ name: Gillessen-Kaesbach-Nishimura syndrome subset: gard_rare {source="GARD:15223", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "GIKANIS" RELATED ABBREVIATION [OMIM:263210] +synonym: "GIKANIS" RELATED ABBREVIATION [] synonym: "Gillessen-Kaesbach-Nishimura syndrome" EXACT [OMIM:263210] -synonym: "polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia" RELATED [OMIM:263210] -synonym: "polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia" RELATED [OMIM:263210] +synonym: "polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia" RELATED [] +synonym: "polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia" RELATED [] xref: GARD:15223 {source="MONDO:GARD"} xref: MEDGEN:376653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564881 {source="MONDO:equivalentTo"} @@ -216161,15 +216195,15 @@ subset: rare synonym: "acquired primary erythrocytosis" EXACT [Orphanet:729] synonym: "Osler-Vaquez disease" EXACT [Orphanet:729] synonym: "Osler-Vaquez syndrome" EXACT [DOID:8997] -synonym: "polycythaemia rubra vera" EXACT [DOID:8997] +synonym: "polycythaemia rubra vera" EXACT [DOID:8997, icd11.foundation:818364947] synonym: "polycythemia rubra vera" EXACT [NCIT:C3336, OMIM:263300, Orphanet:729] -synonym: "polycythemia vera" EXACT [MONDO:Lexical, NCIT:C3336, OMIM:263300] -synonym: "polycythemia vera, somatic" EXACT [OMIM:263300, OMIM:genemap2] +synonym: "polycythemia vera" EXACT [DOID:8997, ICD10CM:D45, MONDO:Lexical, NCIT:C3336, OMIM:263300, Orphanet:729] +synonym: "polycythemia vera, somatic" EXACT [] synonym: "primary polycythemia" RELATED [GARD:0007422] synonym: "proliferative polycythaemia" EXACT [DOID:8997] synonym: "PRV" RELATED ABBREVIATION [GARD:0007422] synonym: "PV" EXACT ABBREVIATION [MONDO:Lexical, OMIM:263300, Orphanet:729] -synonym: "Vaquez disease" EXACT [Orphanet:729] +synonym: "Vaquez disease" EXACT [icd11.foundation:818364947, Orphanet:729] xref: DOID:8997 {source="MONDO:equivalentTo", source="EFO:0002429"} xref: EFO:0002429 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7422 {source="MONDO:GARD"} @@ -216211,18 +216245,18 @@ subset: orphanet_rare {source="Orphanet:238557"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive benign erythrocytosis" EXACT [DOID:0060474] -synonym: "Chuvash erythrocytosis" RELATED [Orphanet:238557] +synonym: "Chuvash erythrocytosis" RELATED [] synonym: "Chuvash erythromatosis" EXACT [DOID:0060474] -synonym: "Chuvash polycythemia" EXACT [Orphanet:238557] +synonym: "Chuvash polycythemia" EXACT [DOID:0060474, Orphanet:238557] synonym: "Chuvash type polycythemia" EXACT [DOID:0060474] -synonym: "ECYT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263400] -synonym: "erythrocytosis, autosomal recessive benign" RELATED [OMIM:263400] -synonym: "erythrocytosis, familial, 2" RELATED [MONDO:Lexical, OMIM:263400] -synonym: "erythrocytosis, familial, type 2" EXACT [MONDORULE:1, OMIM:263400] +synonym: "ECYT2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "erythrocytosis, autosomal recessive benign" RELATED [] +synonym: "erythrocytosis, familial, 2" RELATED [MONDO:Lexical] +synonym: "erythrocytosis, familial, type 2" EXACT [MONDORULE:1] synonym: "familial erythrocytosis 2" EXACT [DOID:0060474] synonym: "familial polycythemia caused by mutation in VHL" EXACT [MONDO:design_pattern] -synonym: "polycythemia, Chuvash type" RELATED [OMIM:263400] -synonym: "polycythemia, VHL-dependent" RELATED [OMIM:263400] +synonym: "polycythemia, Chuvash type" RELATED [] +synonym: "polycythemia, VHL-dependent" RELATED [] synonym: "VHL familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Von Hippel-Lindau-dependent polycythemia" EXACT [Orphanet:238557] xref: DOID:0060474 {source="MONDO:equivalentTo"} @@ -216245,7 +216279,7 @@ name: polydactyly, postaxial, type A5 subset: gard_rare {source="GARD:18172", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PAPA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263450] +synonym: "PAPA5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "polydactyly, postaxial, type A5" EXACT [MONDO:Lexical, OMIM:263450] xref: GARD:18172 {source="MONDO:GARD"} xref: MEDGEN:763575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -216262,16 +216296,16 @@ subset: gard_rare {source="GARD:15224", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Majewski syndrome" EXACT [DOID:0110092, OMIM:263520] +synonym: "Majewski syndrome" EXACT [DOID:0110092, NCIT:C122654, OMIM:263520] synonym: "polydactyly with neonatal chondrodystrophy type II" EXACT [NCIT:C122654] -synonym: "polydactyly with neonatal chondrodystrophy, type 2" RELATED [OMIM:263520] +synonym: "polydactyly with neonatal chondrodystrophy, type 2" RELATED [] synonym: "polydactyly with neonatal chondrodystrophy, type II" EXACT [DOID:0110092] synonym: "short rib-polydactyly syndrome type II" EXACT [NCIT:C122654] synonym: "short rib-polydactyly syndrome type IIA" EXACT [DOID:0110092] -synonym: "short rib-polydactyly syndrome, type 2" RELATED [OMIM:263520] -synonym: "short rib-polydactyly syndrome, type 2A" RELATED [OMIM:263520] -synonym: "short-rib thoracic dysplasia 6 with or without polydactyly" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:263520] -synonym: "Srps, type 2" RELATED [OMIM:263520] +synonym: "short rib-polydactyly syndrome, type 2" RELATED [] +synonym: "short rib-polydactyly syndrome, type 2A" RELATED [] +synonym: "short-rib thoracic dysplasia 6 with or without polydactyly" EXACT CLINGEN_LABEL [DOID:0110092, MONDO:Lexical, NCIT:C122654, OMIM:263520] +synonym: "Srps, type 2" RELATED [] synonym: "SRPS2A" EXACT ABBREVIATION [DOID:0110092] synonym: "SRTD6" EXACT ABBREVIATION [DOID:0110092, MONDO:Lexical, OMIM:263520] xref: DOID:0110092 {source="MONDO:equivalentTo"} @@ -216300,7 +216334,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2916"} subset: orphanet_rare {source="Orphanet:2916"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "polydactyly, postaxial, with dental and vertebral anomalies" RELATED [OMIM:263540] +synonym: "polydactyly, postaxial, with dental and vertebral anomalies" RELATED [] xref: GARD:16614 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:2916/attributed", source="Orphanet:2916/ntbt", source="Orphanet:2916"} xref: MEDGEN:342342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -216330,10 +216364,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:206583"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "APBD" EXACT ABBREVIATION [Orphanet:206583] -synonym: "APBN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:263570] +synonym: "APBN" RELATED ABBREVIATION [MONDO:Lexical] synonym: "polyglucosan body disease, adult" RELATED [GARD:0000108] -synonym: "polyglucosan body disease, adult form" RELATED [OMIM:263570] -synonym: "polyglucosan body neuropathy, adult form" RELATED [MONDO:Lexical, OMIM:263570] +synonym: "polyglucosan body disease, adult form" RELATED [] +synonym: "polyglucosan body neuropathy, adult form" RELATED [MONDO:Lexical] xref: GARD:108 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:206583/attributed", source="Orphanet:206583/ntbt", source="Orphanet:206583"} xref: MEDGEN:342338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -216364,7 +216398,7 @@ is_a: MONDO:0003847 {source="MESH:C564877/inferred"} ! hereditary disease [Term] id: MONDO:0009899 name: polyhydramnios, chronic idiopathic -synonym: "Lactogen receptor defect of chorion" RELATED [OMIM:263610] +synonym: "Lactogen receptor defect of chorion" RELATED [] synonym: "polyhydramnios, chronic idiopathic" EXACT [OMIM:263610] xref: MEDGEN:340402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564876 {source="MONDO:equivalentTo"} @@ -216386,7 +216420,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bonneau syndrome" EXACT [OMIM:263630, Orphanet:2934] synonym: "polysyndactyly cardiac malformation" RELATED [GARD:0004428] -synonym: "polysyndactyly with CARDIAC malformation" RELATED [OMIM:263630] +synonym: "polysyndactyly with CARDIAC malformation" RELATED [] xref: GARD:4428 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2934/attributed", source="Orphanet:2934/ntbt", source="Orphanet:2934"} xref: MEDGEN:337895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -216409,18 +216443,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:1234"} subset: orphanet_rare {source="Orphanet:1234"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive popliteal pterygium syndrome" EXACT [Orphanet:1234] +synonym: "autosomal recessive popliteal pterygium syndrome" EXACT [NCIT:C168990, Orphanet:1234] synonym: "Bartsocas Papas syndrome" EXACT [GARD:0004436] -synonym: "Bartsocas-Papas syndrome" EXACT CLINGEN_LABEL [Orphanet:1234] +synonym: "Bartsocas-Papas syndrome" EXACT CLINGEN_LABEL [NCIT:C168990, Orphanet:1234] synonym: "BPS" RELATED ABBREVIATION [GARD:0004436] synonym: "lethal popliteal pterygium syndrome" EXACT [Orphanet:1234] -synonym: "multiple pterygium syndrome, Aslan type" RELATED [OMIM:263650] +synonym: "multiple pterygium syndrome, Aslan type" RELATED [] synonym: "popliteal pterygium syndrome lethal type" RELATED [GARD:0004436] synonym: "popliteal pterygium syndrome, Bartsocas-Papas type" RELATED [GARD:0004436] -synonym: "popliteal pterygium syndrome, Bartsocas-Papas type 1" EXACT [OMIM:263650, OMIM:genemap2] +synonym: "popliteal pterygium syndrome, Bartsocas-Papas type 1" EXACT [OMIM:263650] synonym: "popliteal pterygium syndrome, lethal type" EXACT [OMIM:263650] synonym: "pterygium popliteal lethal type" RELATED [GARD:0004436] -synonym: "pterygium, popliteal, lethal type" RELATED [OMIM:263650] +synonym: "pterygium, popliteal, lethal type" RELATED [] xref: GARD:4436 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:1234/attributed", source="Orphanet:1234/ntbt", source="Orphanet:1234"} xref: MEDGEN:337894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -216446,19 +216480,19 @@ subset: ordo_disorder {source="Orphanet:79277"} subset: orphanet_rare {source="Orphanet:79277"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CEP" EXACT ABBREVIATION [Orphanet:79277] -synonym: "Cep" RELATED [OMIM:263700] -synonym: "Congenital Erythropoietic Porphyria" EXACT [NORD:1599] -synonym: "congenital erythropoietic porphyria" RELATED [Orphanet:79277] +synonym: "CEP" EXACT ABBREVIATION [NCIT:C84697, OMIM:263700, Orphanet:79277] +synonym: "Cep" RELATED [] +synonym: "Congenital Erythropoietic Porphyria" EXACT [NORD:1599, Orphanet:79277] +synonym: "congenital erythropoietic porphyria" RELATED [] synonym: "congenital porphyria" RELATED [GARD:0004446] -synonym: "cutaneous porphyria" EXACT CLINGEN_LABEL [] -synonym: "erythropoietic porphyria" EXACT [DOID:13271] -synonym: "Gunther disease" RELATED [OMIM:263700] +synonym: "cutaneous porphyria" EXACT CLINGEN_LABEL [DOID:13271] +synonym: "erythropoietic porphyria" EXACT [DOID:13271, NCIT:C84697] +synonym: "Gunther disease" RELATED [] synonym: "Günther disease" EXACT [Orphanet:79277] -synonym: "porphyria, congenital erythropoietic" RELATED [OMIM:263700] -synonym: "uroporphyrinogen 3 synthase deficiency" RELATED [OMIM:263700] +synonym: "porphyria, congenital erythropoietic" RELATED [] +synonym: "uroporphyrinogen 3 synthase deficiency" RELATED [] synonym: "uroporphyrinogen III synthase, deficiency of" RELATED [GARD:0004446] -synonym: "Uros deficiency" RELATED [OMIM:263700] +synonym: "Uros deficiency" RELATED [] xref: DOID:13271 {source="MONDO:equivalentTo"} xref: GARD:4446 {source="MONDO:GARD"} xref: ICD10CM:E80.0 {source="DOID:13271", source="Orphanet:79277/inclusion", source="Orphanet:79277/ntbt", source="Orphanet:79277"} @@ -216490,17 +216524,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:246"} subset: orphanet_rare {source="Orphanet:246"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrofacial dysostosis, Genee-Wiedmann type" EXACT [Orphanet:246] +synonym: "acrofacial dysostosis, Genee-Wiedmann type" EXACT [DOID:0111259] synonym: "Genee-Wiedemann acrofacial dysostosis" RELATED [GARD:0008410] -synonym: "Genee-Wiedemann syndrome" RELATED [OMIM:263750] +synonym: "Genee-Wiedemann syndrome" RELATED [] synonym: "GWAFD" RELATED ABBREVIATION [GARD:0008410] -synonym: "Mandibulfacial dysostosis with postaxial limb anomalies" EXACT [Orphanet:246] -synonym: "Miller Syndrome" EXACT [NORD:1448] -synonym: "Miller syndrome" EXACT [OMIM:263750, Orphanet:246] -synonym: "POADS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:263750, Orphanet:246] +synonym: "Mandibulfacial dysostosis with postaxial limb anomalies" EXACT [DOID:0111259] +synonym: "Miller Syndrome" EXACT [DOID:0111259, NORD:1448, OMIM:263750, Orphanet:246] +synonym: "Miller syndrome" EXACT [DOID:0111259, OMIM:263750, Orphanet:246] +synonym: "POADS" EXACT ABBREVIATION [DOID:0111259, MONDO:Lexical, Orphanet:246] synonym: "POADS syndrome" RELATED [GARD:0008410] -synonym: "postaxial acrodysostosis" EXACT [Orphanet:246] -synonym: "postaxial acrofacial dysostosis" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:263750] +synonym: "postaxial acrodysostosis" EXACT [DOID:0111259, Orphanet:246] +synonym: "postaxial acrofacial dysostosis" EXACT CLINGEN_LABEL [DOID:0111259, icd11.foundation:70602060, MONDO:Lexical, OMIM:263750, Orphanet:246] synonym: "postaxial acrofacial dysostosis (POADS) syndrome" RELATED [GARD:0008410] synonym: "Wildervanck-Smith syndrome" RELATED [GARD:0008410] xref: DOID:0111259 {source="MONDO:equivalentTo"} @@ -216534,12 +216568,12 @@ subset: orphanet_rare {source="Orphanet:358"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial hypokalemia-hypomagnesemia" RELATED [GARD:0008547] -synonym: "Gitelman syndrome" EXACT CLINGEN_LABEL [OMIM:263800] +synonym: "Gitelman syndrome" EXACT CLINGEN_LABEL [DOID:0050450, NCIT:C84730, OMIM:263800, Orphanet:358] synonym: "Gitelman's syndrome" RELATED [GARD:0008547] -synonym: "GTLMNS" RELATED ABBREVIATION [OMIM:263800] +synonym: "GTLMNS" RELATED ABBREVIATION [] synonym: "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria" EXACT [DOID:0050450, OMIM:263800] -synonym: "Potassium and magnesium depletion" RELATED [OMIM:263800] -synonym: "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" EXACT [Orphanet:358] +synonym: "Potassium and magnesium depletion" RELATED [] +synonym: "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" EXACT [] xref: DOID:0050450 {source="MONDO:equivalentTo"} xref: GARD:8547 {source="MONDO:GARD"} xref: ICD10CM:N15.8 {source="Orphanet:358/attributed", source="Orphanet:358/ntbt", source="Orphanet:358"} @@ -216575,9 +216609,9 @@ subset: orphanet_rare {source="Orphanet:3409"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "intellectual disability-short stature-hand contractures-genital anomalies syndrome" EXACT [Orphanet:3409] -synonym: "Prader-Willi habitus, osteopenia, and camptodactyly" RELATED [OMIM:264010] +synonym: "Prader-Willi habitus, osteopenia, and camptodactyly" RELATED [] synonym: "Prader-Willi habitus-osteopenia-camptodactyly syndrome" EXACT [Orphanet:3409] -synonym: "urban-Rogers-Meyer syndrome" EXACT [OMIM:264010] +synonym: "urban-Rogers-Meyer syndrome" EXACT [OMIM:264010, Orphanet:3409] xref: GARD:5426 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3409/attributed", source="Orphanet:3409/ntbt", source="Orphanet:3409"} xref: MEDGEN:162919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -216609,7 +216643,7 @@ is_a: MONDO:0008882 {source="Orphanet:2292/btnt"} ! congenital bowing of long bo id: MONDO:0009907 name: Prepapillary vascular loops synonym: "Prepapillary vascular loops" EXACT [OMIM:264060] -synonym: "preretinal vascular loops" RELATED [OMIM:264060] +synonym: "preretinal vascular loops" RELATED [] xref: MEDGEN:316814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563287 {source="MONDO:equivalentTo"} xref: OMIM:264060 {source="MONDO:equivalentTo"} @@ -216627,20 +216661,20 @@ subset: gard_rare {source="GARD:2843", source="MONDO:GARD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:1578"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CADH deficiency" EXACT [OMIM:264070, Orphanet:1578] -synonym: "dehydratase deficiency" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40011/, Orphanet:1578] -synonym: "HPABH4D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:264070] +synonym: "CADH deficiency" EXACT [OMIM:264070] +synonym: "dehydratase deficiency" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40011/] +synonym: "HPABH4D" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hyperphenylalaninemia due to dehydratase deficiency" EXACT [Orphanet:1578] synonym: "hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency" EXACT [Orphanet:1578] synonym: "hyperphenylalaninemia with primapterinuria" EXACT [OMIM:264070, Orphanet:1578] -synonym: "hyperphenylalaninemia, BH4-deficient, D" RELATED [MONDO:Lexical, OMIM:264070] -synonym: "hyperphenylalaninemia, Bh4-deficient, type D" EXACT [MONDORULE:1, OMIM:264070] -synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency" RELATED [OMIM:264070] -synonym: "PCBD deficiency" EXACT [OMIM:264070, Orphanet:1578] +synonym: "hyperphenylalaninemia, BH4-deficient, D" RELATED [MONDO:Lexical] +synonym: "hyperphenylalaninemia, Bh4-deficient, type D" EXACT [MONDORULE:1] +synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-Alpha-carbinolamine dehydratase deficiency" RELATED [] +synonym: "PCBD deficiency" EXACT [OMIM:264070] synonym: "PCBD1 deficiency" EXACT [https://clinicalgenome.org/affiliation/40011/] synonym: "PCD deficiency" EXACT [https://clinicalgenome.org/affiliation/40011/] synonym: "pterin-4 alpha-carbinolamine dehydratase 1 deficiency" EXACT [] -synonym: "pterin-4 alpha-carbinolamine dehydratase deficiency" RELATED [Orphanet:1578] +synonym: "pterin-4 alpha-carbinolamine dehydratase deficiency" RELATED [] synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency" RELATED [GARD:0002843] xref: DOID:0081131 {source="MONDO:equivalentTo"} xref: GARD:2843 {source="MONDO:GARD"} @@ -216663,7 +216697,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009909 name: progesterone resistance synonym: "progesterone resistance" EXACT [OMIM:264080] -synonym: "pseudocorpus luteum insufficiency" RELATED [OMIM:264080] +synonym: "pseudocorpus luteum insufficiency" RELATED [] xref: MEDGEN:337889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564871 {source="MONDO:equivalentTo"} xref: OMIM:264080 {source="MONDO:equivalentTo"} @@ -216682,12 +216716,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:3455"} subset: orphanet_rare {source="Orphanet:3455"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neonatal progeroid syndrome" EXACT [Orphanet:3455] +synonym: "neonatal progeroid syndrome" EXACT [DOID:0081333, NCIT:C121565, Orphanet:3455] synonym: "progeroid syndrome neonatal" RELATED [GARD:0000330] -synonym: "progeroid syndrome, neonatal" RELATED [OMIM:264090] +synonym: "progeroid syndrome, neonatal" RELATED [] synonym: "Wiedemann Rautenstrauch Syndrome" EXACT [NORD:1852] synonym: "Wiedemann Rautenstrauch syndrome" RELATED [GARD:0000330] -synonym: "Wiedemann-Rautenstrauch syndrome" EXACT [OMIM:264090] +synonym: "Wiedemann-Rautenstrauch syndrome" EXACT [DOID:0081333, NCIT:C121565, OMIM:264090, Orphanet:3455] xref: DOID:0081333 {source="MONDO:equivalentTo"} xref: GARD:330 {source="MONDO:GARD"} xref: ICD10CM:E34.8 {source="Orphanet:3455", source="Orphanet:3455/attributed", source="Orphanet:3455/ntbt"} @@ -216729,7 +216763,7 @@ is_a: MONDO:0003847 {source="MESH:C562708"} ! hereditary disease [Term] id: MONDO:0009912 name: prolactin deficiency with obesity and enlarged testes -synonym: "PRL deficiency with obesity and enlarged testes" RELATED [OMIM:264120] +synonym: "PRL deficiency with obesity and enlarged testes" RELATED [] synonym: "prolactin deficiency with obesity and enlarged testes" EXACT [OMIM:264120] xref: MEDGEN:341515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564870 {source="MONDO:equivalentTo"} @@ -216740,7 +216774,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0009913 name: prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness -synonym: "prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness" EXACT [OMIM:264140] +synonym: "prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness" EXACT [] synonym: "prune belly syndrome with pulmonic stenosis, mental retardation, and deafness" EXACT DEPRECATED [OMIM:264140] xref: MEDGEN:96043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562894 {source="MONDO:equivalentTo"} @@ -216761,7 +216795,7 @@ subset: orphanet_rare {source="Orphanet:85174"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Pseudodiastrophic dwarfism" RELATED [GARD:0009463] -synonym: "pseudodiastrophic dysplasia" EXACT [OMIM:264180] +synonym: "pseudodiastrophic dysplasia" EXACT [icd11.foundation:902021042, OMIM:264180, Orphanet:85174] xref: GARD:9463 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:85174/attributed", source="Orphanet:85174/ntbt", source="Orphanet:85174"} xref: icd11.foundation:902021042 {source="MONDO:equivalentTo"} @@ -216790,8 +216824,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2975"} subset: orphanet_rare {source="Orphanet:2975"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "female pseudohermaphroditism-skeletal anomalies syndrome" EXACT [Orphanet:2975] -synonym: "pseudohermaphroditism, female, with skeletal anomalies" RELATED [OMIM:264270] +synonym: "female pseudohermaphroditism-skeletal anomalies syndrome" EXACT [] +synonym: "pseudohermaphroditism, female, with skeletal anomalies" RELATED [] xref: GARD:16617 {source="MONDO:GARD"} xref: ICD10CM:Q56.2 {source="Orphanet:2975", source="Orphanet:2975/attributed", source="Orphanet:2975/ntbt"} xref: MEDGEN:341514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -216816,22 +216850,22 @@ synonym: "17 alpha KSR deficiency" RELATED [GARD:0005659] synonym: "17 Beta HSD3 deficiency" EXACT [NCIT:C120203] synonym: "17 beta HSD3 deficiency" EXACT [NCIT:C120203] synonym: "17 beta hydroxysteroid dehydrogenase III deficiency" RELATED [GARD:0005659] -synonym: "17-Beta hydroxysteroid dehydrogenase 3 deficiency" RELATED [OMIM:264300] +synonym: "17-Beta hydroxysteroid dehydrogenase 3 deficiency" RELATED [] synonym: "17-beta hydroxysteroid dehydrogenase 3 deficiency" RELATED [GARD:0005659] -synonym: "17-BETA hydroxysteroid dehydrogenase III deficiency" RELATED [OMIM:264300] -synonym: "17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [Orphanet:752] -synonym: "17-ketoreductase deficiency" EXACT [Orphanet:752] -synonym: "17-ketosteroid reductase deficiency of testis" RELATED [OMIM:264300] -synonym: "17-ketosteroidreductase deficiency" EXACT [Orphanet:752] -synonym: "17-KSR deficiency" RELATED [OMIM:264300] -synonym: "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT CLINGEN_LABEL [] +synonym: "17-BETA hydroxysteroid dehydrogenase III deficiency" RELATED [] +synonym: "17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [DOID:0112248, icd11.foundation:887793448, NCIT:C120203, Orphanet:752] +synonym: "17-ketoreductase deficiency" EXACT [DOID:0112248, icd11.foundation:887793448, Orphanet:752] +synonym: "17-ketosteroid reductase deficiency of testis" RELATED [] +synonym: "17-ketosteroidreductase deficiency" EXACT [DOID:0112248, icd11.foundation:887793448, Orphanet:752] +synonym: "17-KSR deficiency" RELATED [] +synonym: "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT CLINGEN_LABEL [DOID:0112248, icd11.foundation:887793448, Orphanet:752] synonym: "Male pseudoherma-phroditism with gynecomastia" RELATED [GARD:0005659] -synonym: "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [Orphanet:752] +synonym: "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [icd11.foundation:887793448] synonym: "neutral 17 beta hydroxysteroid oxidoreductase deficiency" RELATED [GARD:0005659] -synonym: "neutral 17-Beta-hydroxysteroid oxidoreductase deficiency" RELATED [OMIM:264300] -synonym: "polycystic ovarian disease due to 17-ketosteroid reductase deficiency" RELATED [OMIM:264300] -synonym: "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency" RELATED [OMIM:264300] -synonym: "pseudohermaphroditism, Male, with gynecomastia" RELATED [OMIM:264300] +synonym: "neutral 17-Beta-hydroxysteroid oxidoreductase deficiency" RELATED [] +synonym: "polycystic ovarian disease due to 17-ketosteroid reductase deficiency" RELATED [] +synonym: "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency" RELATED [] +synonym: "pseudohermaphroditism, Male, with gynecomastia" RELATED [] xref: DOID:0112248 {source="MONDO:equivalentTo"} xref: GARD:5659 {source="MONDO:GARD"} xref: ICD10CM:E29.1 {source="Orphanet:752", source="Orphanet:752/attributed", source="Orphanet:752/ntbt"} @@ -216863,17 +216897,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:171876"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive PHA 1" EXACT [Orphanet:171876] +synonym: "autosomal recessive PHA 1" EXACT [] synonym: "autosomal recessive pseudohypoaldosteronism type 1" EXACT [Orphanet:171876] synonym: "generalised PHA1" EXACT OMO:0003005 [] synonym: "generalised pseudohypoaldosteronism type 1" EXACT OMO:0003005 [] synonym: "generalized PHA1" EXACT [GARD:0004552, Orphanet:171876] synonym: "generalized pseudohypoaldosteronism type 1" EXACT [GARD:0004552, Orphanet:171876] -synonym: "PHA I, autosomal recessive" RELATED [OMIM:264350] -synonym: "PHA1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:264350] +synonym: "PHA I, autosomal recessive" RELATED [] +synonym: "PHA1B" EXACT ABBREVIATION [MONDO:Lexical] synonym: "pseudohypoaldosteronism type 1 autosomal recessive" RELATED [GARD:0004552] synonym: "pseudohypoaldosteronism type 1, recessive" RELATED [GARD:0004552] -synonym: "pseudohypoaldosteronism, type I, autosomal recessive" RELATED [MONDO:Lexical, OMIM:264350] +synonym: "pseudohypoaldosteronism, type I, autosomal recessive" RELATED [MONDO:Lexical] xref: DOID:0060854 {source="MONDO:mondoIsNarrowerThanSource"} xref: GARD:4552 {source="MONDO:GARD"} xref: ICD10CM:N25.8 {source="Orphanet:171876/attributed", source="Orphanet:171876/ntbt", source="DOID:0060854", source="Orphanet:171876"} @@ -216897,8 +216931,8 @@ subset: rare synonym: "fundus dystrophy, pseudoinflammatory recessive form" RELATED [GARD:0009633] synonym: "fundus dystrophy, pseudoinflammatory, recessive form" EXACT [OMIM:264420] synonym: "PFD Lavia type" RELATED [GARD:0009633] -synonym: "Pfd, Finnish type" RELATED [OMIM:264420] -synonym: "Pfd, Lavia type" RELATED [OMIM:264420] +synonym: "Pfd, Finnish type" RELATED [] +synonym: "Pfd, Lavia type" RELATED [] synonym: "pseudoinflammatory fundus dystrophy" RELATED [GARD:0009633] xref: GARD:9633 {source="MONDO:GARD"} xref: MEDGEN:337888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -216919,13 +216953,13 @@ subset: orphanet_rare {source="Orphanet:2971"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACOX1 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] -synonym: "peroxisomal acyl-CoA oxidase deficiency" EXACT CLINGEN_LABEL [OMIM:264470] +synonym: "peroxisomal acyl-CoA oxidase deficiency" EXACT CLINGEN_LABEL [DOID:0050797, icd11.foundation:927825451, NCIT:C170437, OMIM:264470, Orphanet:2971] synonym: "peroxisomal acyl-coenzyme A oxidase" EXACT [DOID:0050797] synonym: "pseudo-NALD" EXACT [Orphanet:2971] -synonym: "pseudo-neonatal adrenoleukodystrophy" EXACT [Orphanet:2971] -synonym: "Pseudoadrenoleukodystrophy" EXACT [Orphanet:2971] -synonym: "Pseudoneonatal adrenoleukodystrophy" RELATED [OMIM:264470] -synonym: "straight-chain acyl-Coa oxidase deficiency" RELATED [OMIM:264470] +synonym: "pseudo-neonatal adrenoleukodystrophy" EXACT [icd11.foundation:927825451, Orphanet:2971] +synonym: "Pseudoadrenoleukodystrophy" EXACT [icd11.foundation:927825451, Orphanet:2971] +synonym: "Pseudoneonatal adrenoleukodystrophy" RELATED [] +synonym: "straight-chain acyl-Coa oxidase deficiency" RELATED [] xref: DOID:0050797 {source="MONDO:equivalentTo"} xref: GARD:4543 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:2971", source="Orphanet:2971/attributed", source="Orphanet:2971/ntbt"} @@ -216955,9 +216989,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2980"} subset: orphanet_rare {source="Orphanet:2980"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrootoocular syndrome" EXACT [OMIM:264475] -synonym: "Aoo syndrome" RELATED [OMIM:264475] -synonym: "pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies" RELATED [OMIM:264475] +synonym: "acrootoocular syndrome" EXACT [OMIM:264475, Orphanet:2980] +synonym: "Aoo syndrome" RELATED [] +synonym: "pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies" RELATED [] synonym: "pseudopapilledema-blepharophimosis-hand anomalies syndrome" EXACT [Orphanet:2980] xref: GARD:4559 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:2980", source="Orphanet:2980/attributed", source="Orphanet:2980/ntbt"} @@ -216982,10 +217016,10 @@ subset: orphanet_rare {source="Orphanet:2166"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "holoprosencephaly polydactyly syndrome" RELATED [GARD:0000344] -synonym: "holoprosencephaly-polydactyly syndrome" RELATED [OMIM:264480] +synonym: "holoprosencephaly-polydactyly syndrome" RELATED [] synonym: "pseudo trisomy 13 syndrome" RELATED [GARD:0000344] synonym: "pseudo-trisomy 13 syndrome" EXACT [Orphanet:2166] -synonym: "PSEUDOTRISOMY 13 syndrome" RELATED [OMIM:264480] +synonym: "PSEUDOTRISOMY 13 syndrome" RELATED [] synonym: "Young-Maders syndrome" RELATED [GARD:0000344] xref: GARD:344 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2166", source="Orphanet:2166/attributed", source="Orphanet:2166/ntbt"} @@ -217022,17 +217056,17 @@ subset: orphanet_rare {source="Orphanet:753"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency" EXACT [NCIT:C98699] -synonym: "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" EXACT CLINGEN_LABEL [] -synonym: "46,XY DSD due to 5-alpha-reductase 2 deficiency" EXACT [Orphanet:753] +synonym: "46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" EXACT CLINGEN_LABEL [icd11.foundation:1028755501, Orphanet:753] +synonym: "46,XY DSD due to 5-alpha-reductase 2 deficiency" EXACT [icd11.foundation:1028755501, Orphanet:753] synonym: "5 Alpha steroid reductase 2 deficiency" EXACT [NCIT:C98699] synonym: "5-alpha reductase deficiency" RELATED [GARD:0005680] -synonym: "familial incomplete Male pseudohermaphroditism, type 2" RELATED [OMIM:264600] -synonym: "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency" EXACT [Orphanet:753] -synonym: "Male pseudohermaphroditism due to 5-Alpha-reductase deficiency" RELATED [OMIM:264600] -synonym: "micropenis" RELATED [OMIM:264600] -synonym: "PPSH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:264600] -synonym: "pseudovaginal perineoscrotal hypospadias" EXACT [MONDO:Lexical, OMIM:264600, Orphanet:753] -synonym: "steroid 5-alpha-reductase deficiency" EXACT [Orphanet:753] +synonym: "familial incomplete Male pseudohermaphroditism, type 2" RELATED [] +synonym: "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency" EXACT [icd11.foundation:1028755501] +synonym: "Male pseudohermaphroditism due to 5-Alpha-reductase deficiency" RELATED [] +synonym: "micropenis" RELATED [] +synonym: "PPSH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pseudovaginal perineoscrotal hypospadias" EXACT [MONDO:Lexical, NCIT:C98699, OMIM:264600, Orphanet:753] +synonym: "steroid 5-alpha-reductase deficiency" EXACT [] xref: GARD:5680 {source="MONDO:GARD"} xref: ICD10CM:Q56.1 {source="Orphanet:753", source="Orphanet:753/attributed", source="Orphanet:753/ntbt"} xref: icd11.foundation:1028755501 {source="MONDO:equivalentTo"} @@ -217070,12 +217104,12 @@ synonym: "pseudo vitamin-D deficient rickets" EXACT [NCIT:C131073] synonym: "pseudovitamin D-deficient rickets" EXACT [Orphanet:289157] synonym: "selective 1-alpha, 25-hydroxyvitamin D3 deficiency" EXACT [NCIT:C131073] synonym: "VDDI" EXACT ABBREVIATION [Orphanet:289157] -synonym: "VDDR-I" EXACT [Orphanet:289157] +synonym: "VDDR-I" EXACT ABBREVIATION [Orphanet:289157] synonym: "VDDR1" EXACT ABBREVIATION [NCIT:C131073] synonym: "vitamin D 1 Alpha-Hydroxylase deficiency" EXACT [NCIT:C131073] -synonym: "vitamin D dependency, type 1" RELATED [OMIM:264700] +synonym: "vitamin D dependency, type 1" RELATED [] synonym: "vitamin D dependent rickets type I" EXACT [Orphanet:289157] -synonym: "vitamin D-dependency type I" EXACT [Orphanet:289157] +synonym: "vitamin D-dependency type I" EXACT [icd11.foundation:1270705227, Orphanet:289157] synonym: "vitamin D-dependent rickets type 1" EXACT [NCIT:C131073] xref: GARD:17319 {source="MONDO:GARD"} xref: ICD10CM:E55.0 {source="Orphanet:289157/attributed", source="Orphanet:289157/ntbt", source="Orphanet:289157"} @@ -217105,11 +217139,11 @@ synonym: "AR inherited pseudoxanthoma elasticum" EXACT [https://orcid.org/0000-0 synonym: "Gronblad Strandberg syndrome" RELATED [GARD:0009643] synonym: "Gronblad-Strandberg syndrome" EXACT [DOID:2738, OMIM:264800] synonym: "Gronblad-Strandberg-Touraine syndrome" EXACT [Orphanet:758] -synonym: "Pseudoxanthoma Elasticum" EXACT [NORD:1629] -synonym: "pseudoxanthoma elasticum" RELATED [MONDO:Lexical, OMIM:264800] -synonym: "pseudoxanthoma elasticum, modifier of severity of" RELATED [OMIM:264800] +synonym: "Pseudoxanthoma Elasticum" EXACT [DOID:2738, icd11.foundation:1516160852, NCIT:C85036, NORD:1629, OMIM:264800, Orphanet:758] +synonym: "pseudoxanthoma elasticum" RELATED [MONDO:Lexical] +synonym: "pseudoxanthoma elasticum, modifier of severity of" RELATED [] synonym: "PXE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:264800, Orphanet:758] -synonym: "PXE, modifier of severity of" RELATED [OMIM:264800] +synonym: "PXE, modifier of severity of" RELATED [] xref: DOID:2738 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.8 {source="Orphanet:758", source="Orphanet:758/index", source="Orphanet:758/ntbt"} xref: icd11.foundation:1516160852 {source="MONDO:equivalentTo", source="Orphanet:758", source="https://orcid.org/0000-0002-4142-7153"} @@ -217155,20 +217189,20 @@ subset: ordo_malformation_syndrome {source="Orphanet:2990"} subset: orphanet_rare {source="Orphanet:2990"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive multiple pterygium syndrome" EXACT [GARD:0007111] +synonym: "autosomal recessive multiple pterygium syndrome" EXACT [GARD:0007111, icd11.foundation:1502158121, Orphanet:2990] synonym: "autosomal recessive non-lethal multiple pterygium syndrome" EXACT [Orphanet:2990] -synonym: "Escobar syndrome" EXACT [Orphanet:2990] +synonym: "Escobar syndrome" EXACT [NCIT:C101039, OMIM:265000, Orphanet:2990] synonym: "Escobar variant multiple pterygium syndrome" EXACT [GARD:0007111, Orphanet:2990] synonym: "EVMPS" EXACT ABBREVIATION [GARD:0007111, MONDO:Lexical, OMIM:265000, Orphanet:2990] -synonym: "multiple pterygium syndrome" RELATED [GARD:0007111, OMIM:265000] +synonym: "multiple pterygium syndrome" RELATED [GARD:0007111] synonym: "multiple pterygium syndrome Escobar type" RELATED [GARD:0007111] synonym: "multiple pterygium syndrome nonlethal type" RELATED [GARD:0007111] synonym: "multiple pterygium syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -synonym: "multiple pterygium syndrome, ESCOBAR variant" RELATED [MONDO:Lexical, OMIM:265000] -synonym: "multiple pterygium syndrome, Nonlethal type" RELATED [OMIM:265000] -synonym: "pterygium colli syndrome" RELATED [GARD:0007111, OMIM:265000] -synonym: "pterygium syndrome" RELATED [GARD:0007111, OMIM:265000] -synonym: "pterygium Universale" RELATED [OMIM:265000] +synonym: "multiple pterygium syndrome, ESCOBAR variant" RELATED [MONDO:Lexical] +synonym: "multiple pterygium syndrome, Nonlethal type" RELATED [] +synonym: "pterygium colli syndrome" RELATED [GARD:0007111] +synonym: "pterygium syndrome" RELATED [GARD:0007111] +synonym: "pterygium Universale" RELATED [] synonym: "pterygium universale" RELATED [GARD:0007111] xref: GARD:7111 {source="MONDO:GARD"} xref: ICD10CM:Q79.8 {source="Orphanet:2990", source="Orphanet:2990/attributed", source="Orphanet:2990/ntbt"} @@ -217196,17 +217230,17 @@ subset: gard_rare {source="GARD:18428", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3MC syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:265050] +synonym: "3MC syndrome 2" EXACT CLINGEN_LABEL [DOID:0060576, MONDO:Lexical, OMIM:265050] synonym: "3MC syndrome caused by mutation in COLEC11" EXACT [MONDO:design_pattern] -synonym: "3MC syndrome type 2" EXACT [DOID:0060576, MONDORULE:1] -synonym: "3Mc syndrome type 2" EXACT [MONDORULE:1, OMIM:265050] -synonym: "3MC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:265050] -synonym: "Carnevale syndrome" RELATED [OMIM:265050] -synonym: "Carnevale syndrome, formerly" RELATED [OMIM:265050] +synonym: "3MC syndrome type 2" EXACT [MONDORULE:1] +synonym: "3Mc syndrome type 2" EXACT [MONDORULE:1] +synonym: "3MC2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Carnevale syndrome" RELATED [] +synonym: "Carnevale syndrome, formerly" RELATED [] synonym: "COLEC11 3MC syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "oculo-skeletal-abdominal syndrome" RELATED [OMIM:265050] -synonym: "Osa syndrome" RELATED [OMIM:265050] -synonym: "ptosis of eyelids with diastasis recti and hip dysplasia" RELATED [OMIM:265050] +synonym: "oculo-skeletal-abdominal syndrome" RELATED [] +synonym: "Osa syndrome" RELATED [] +synonym: "ptosis of eyelids with diastasis recti and hip dysplasia" RELATED [] xref: DOID:0060576 {source="MONDO:equivalentTo"} xref: EFO:1001977 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:18428 {source="MONDO:GARD"} @@ -217231,7 +217265,7 @@ subset: ordo_disorder {source="Orphanet:60025"} subset: orphanet_rare {source="Orphanet:60025"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pulmonary alveolar microlithiasis" EXACT CLINGEN_LABEL [OMIM:265100] +synonym: "pulmonary alveolar microlithiasis" EXACT CLINGEN_LABEL [DOID:12117, ICD10CM:J84.02, icd11.foundation:1220010076, OMIM:265100, Orphanet:60025] xref: DOID:12117 {source="MONDO:equivalentTo"} xref: GARD:11894 {source="MONDO:GARD"} xref: ICD10CM:J84.0 {source="Orphanet:60025/ntbt", source="Orphanet:60025/inclusion", source="Orphanet:60025"} @@ -217263,14 +217297,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "interstitial lung disease due to SP-B dysfunction" EXACT CLINGEN_LABEL [https://orcid.org/0009-0007-1636-9645] synonym: "interstitial lung disease due to surfactant Protein B deficiency" EXACT [OMIM:265120] -synonym: "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency" RELATED [OMIM:265120] +synonym: "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency" RELATED [] synonym: "neonatal acute respiratory distress due to SP-B deficiency" EXACT [Orphanet:217563] synonym: "neonatal acute respiratory distress due to surfactant protein B deficiency" EXACT [Orphanet:217563] synonym: "pulmonary alveolar proteinosis, congenital, 1" EXACT [OMIM:265120] synonym: "pulmonary surfactant protein B, deficiency of" RELATED [GARD:0004595] synonym: "SMDP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:265120] synonym: "surfactant metabolism dysfunction, pulmonary, 1" EXACT [MONDO:Lexical, OMIM:265120] -synonym: "surfactant metabolism dysfunction, pulmonary, type 1" EXACT [MONDORULE:1, OMIM:265120] +synonym: "surfactant metabolism dysfunction, pulmonary, type 1" EXACT [MONDORULE:1] xref: GARD:17126 {source="MONDO:GARD"} xref: ICD10CM:P28.0 {source="Orphanet:217563/ntbt", source="Orphanet:217563", source="Orphanet:217563/index"} xref: MEDGEN:368844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -217293,15 +217327,15 @@ def: "OBSOLETE. Pulmonary arteriovenous malformation (PAVM) describes an anatomi comment: Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: HP:0006548 subset: ordo_disorder {source="Orphanet:2038"} subset: ordo_morphological_anomaly {source="Orphanet:2038"} -synonym: "arteriovenous fistula of pulmonary vessels" EXACT [NCIT:C99029] -synonym: "PAVM" EXACT ABBREVIATION [Orphanet:2038] +synonym: "arteriovenous fistula of pulmonary vessels" EXACT [] +synonym: "PAVM" EXACT ABBREVIATION [] synonym: "pulmonar arteriovenous aneurysm" RELATED [GARD:0004584] synonym: "pulmonary arterio-veinous fistula" RELATED [GARD:0004584] -synonym: "pulmonary arteriovenous fistula" EXACT [NCIT:C99029] -synonym: "pulmonary arteriovenous fistulas" RELATED [OMIM:265140] +synonym: "pulmonary arteriovenous fistula" EXACT [] +synonym: "pulmonary arteriovenous fistulas" RELATED [] synonym: "pulmonary arteriovenous malformation" EXACT [MONDO:ambiguous] synonym: "pulmonary arteriovenous malformation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "pulmonary AV fistula" EXACT [NCIT:C99029] +synonym: "pulmonary AV fistula" EXACT [] xref: HP:0006548 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q25.7 {source="Orphanet:2038/ntbt", source="Orphanet:2038"} xref: icd11.foundation:913404991 {source="MONDO:obsoleteEquivalent", source="Orphanet:2038", source="https://orcid.org/0000-0002-4142-7153"} @@ -217328,8 +217362,8 @@ subset: ordo_disorder {source="Orphanet:1208"} subset: ordo_morphological_anomaly {source="Orphanet:1208"} subset: orphanet_rare {source="Orphanet:1208"} subset: rare -synonym: "pulmonary atresia with intact ventricular septum" RELATED [OMIM:265150] -synonym: "pulmonary valve atresia with intact ventricular septum" EXACT [NCIT:C99032] +synonym: "pulmonary atresia with intact ventricular septum" RELATED [] +synonym: "pulmonary valve atresia with intact ventricular septum" EXACT [icd11.foundation:131289265, NCIT:C99032] xref: GARD:4600 {source="MONDO:GARD"} xref: ICD10CM:Q22.6 {source="Orphanet:1208", source="Orphanet:1208/ntbt"} xref: icd11.foundation:131289265 {source="MONDO:equivalentTo", source="Orphanet:1208", source="https://orcid.org/0000-0001-5208-3432"} @@ -217366,14 +217400,14 @@ subset: orphanet_rare {source="Orphanet:2414"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital pulmonary lymphangiectasis" EXACT [NCIT:C99034] -synonym: "CPL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:265300] +synonym: "CPL" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diffuse Pulmonary Lymphangiomatosis" EXACT [NORD:1054] synonym: "lymphangiectasia pulmonary congenital" RELATED [GARD:0009900] -synonym: "lymphangiectasia, pulmonary, congenital" RELATED [MONDO:Lexical, OMIM:265300] +synonym: "lymphangiectasia, pulmonary, congenital" RELATED [MONDO:Lexical] synonym: "lymphangiomatosis pulmonary" RELATED [GARD:0009900] -synonym: "lymphangiomatosis, pulmonary" RELATED [OMIM:265300] -synonym: "pulmonary cystic lymphangiectasis" RELATED [OMIM:265300] -synonym: "pulmonary lymphangiomatosis" EXACT [Orphanet:2414] +synonym: "lymphangiomatosis, pulmonary" RELATED [] +synonym: "pulmonary cystic lymphangiectasis" RELATED [] +synonym: "pulmonary lymphangiomatosis" EXACT [icd11.foundation:2069435755, Orphanet:2414] xref: GARD:9900 {source="MONDO:GARD"} xref: ICD10CM:Q33.8 {source="Orphanet:2414", source="Orphanet:2414/attributed", source="Orphanet:2414/ntbt"} xref: icd11.foundation:2069435755 {source="MONDO:equivalentTo"} @@ -217406,20 +217440,20 @@ subset: rare synonym: "ACDMPV" EXACT ABBREVIATION [MESH:C536590, MONDO:Lexical, OMIM:265380, Orphanet:210122] synonym: "alveolar capillary dysplasia" EXACT [NCIT:C98809] synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT CLINGEN_LABEL [GARD:0008644, MESH:C536590, MONDO:Lexical, OMIM:265380, Orphanet:210122] -synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies" RELATED [OMIM:265380] +synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies" RELATED [] synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies" RELATED [MESH:C536590] synonym: "alveolar capillary dysplasia with misalignment of pulmonary vessels" EXACT [Orphanet:210122] synonym: "alveolar capillary dysplasia with pulmonary venous misalignment" RELATED [GARD:0008644] -synonym: "congenital alveolar capillary dysplasia" EXACT [GARD:0008644, MESH:C536590] +synonym: "congenital alveolar capillary dysplasia" EXACT [GARD:0008644, MESH:C536590, Orphanet:210122] synonym: "congenital alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [DOID:13042] synonym: "familial persistent pulmonary hypertension of the newborn" RELATED [GARD:0008644] synonym: "fetal circulation" EXACT [DOID:13042] synonym: "foetal circulation" EXACT OMO:0003005 [] -synonym: "persistent fetal circulation" RELATED [DOID:13042, ICD9CM:747.83] -synonym: "persistent fetal circulation syndrome" RELATED EXCLUDE [DOID:13042] +synonym: "persistent fetal circulation" RELATED [ICD9CM:747.83] +synonym: "persistent fetal circulation syndrome" RELATED EXCLUDE [] synonym: "persistent foetal circulation" RELATED OMO:0003005 [] synonym: "persistent foetal circulation syndrome" RELATED OMO:0003005 [] -synonym: "persistent pulmonary hypertension of the newborn" RELATED [DOID:13042] +synonym: "persistent pulmonary hypertension of the newborn" RELATED [] synonym: "pulmonary hypertension, familial persistent of the newborn" RELATED [GARD:0008644] xref: DOID:13042 {source="EFO:1001103", source="MONDO:equivalentTo"} xref: GARD:8644 {source="MONDO:GARD"} @@ -217453,7 +217487,7 @@ name: pulmonary hypertension, primary, autosomal recessive subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "pulmonary hypertension, primary, autosomal recessive" EXACT [OMIM:265400] +synonym: "pulmonary hypertension, primary, autosomal recessive" EXACT [] xref: MEDGEN:1802382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564862 {source="MONDO:equivalentTo"} xref: OMIM:265400 {source="MONDO:equivalentTo"} @@ -217474,9 +217508,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2257"} subset: orphanet_rare {source="Orphanet:2257"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lung agenesis" RELATED [OMIM:265430] -synonym: "primary pulmonary hypoplasia" RELATED [Orphanet:2257] -synonym: "pulmonary hypoplasia, primary" RELATED [OMIM:265430] +synonym: "lung agenesis" RELATED [] +synonym: "primary pulmonary hypoplasia" RELATED [] +synonym: "pulmonary hypoplasia, primary" RELATED [] xref: GARD:16591 {source="MONDO:GARD"} xref: ICD10CM:Q33.6 {source="Orphanet:2257/attributed", source="Orphanet:2257/ntbt", source="Orphanet:2257"} xref: icd11.foundation:1778475393 {source="Orphanet:2257", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -217503,8 +217537,8 @@ subset: prototype_pattern subset: rare synonym: "obstructive disease of the pulmonary veins" RELATED [GARD:0010153] synonym: "pulmonary capillary hemangiomatosis" EXACT [https://orcid.org/0000-0003-0113-912X] -synonym: "pulmonary veno-occlusive disease" EXACT [DOID:5453] -synonym: "PVOD" EXACT ABBREVIATION [OMIM:265450] +synonym: "pulmonary veno-occlusive disease" EXACT [DOID:5453, NCIT:C85039] +synonym: "PVOD" EXACT ABBREVIATION [] xref: DOID:5453 {source="MONDO:equivalentTo"} xref: GARD:10153 {source="MONDO:GARD"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -217567,8 +217601,8 @@ subset: orphanet_rare {source="Orphanet:763"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "PKND" RELATED ABBREVIATION [GARD:0004611] -synonym: "Pycd" RELATED [OMIM:265800] -synonym: "pycnodysostosis" EXACT [OMIM:265800] +synonym: "Pycd" RELATED [] +synonym: "pycnodysostosis" EXACT [DOID:0080038, icd11.foundation:1329974152, NCIT:C131187, OMIM:265800, Orphanet:763] synonym: "Pyknodysostosis" EXACT [OMIM:265800, Orphanet:763] xref: DOID:0080038 {source="MONDO:equivalentTo"} xref: GARD:4611 {source="MONDO:GARD"} @@ -217616,7 +217650,7 @@ subset: rare synonym: "association of skeletal defects resembling achondrogenesis with generalised bone sclerosis" RELATED OMO:0003005 [] synonym: "association of skeletal defects resembling achondrogenesis with generalized bone sclerosis" RELATED [GARD:0004610] synonym: "camera syndrome" EXACT [Orphanet:3003] -synonym: "pyknoachondrogenesis" EXACT [OMIM:265880] +synonym: "pyknoachondrogenesis" EXACT [icd11.foundation:588435239, OMIM:265880, Orphanet:3003] xref: GARD:4610 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:3003/attributed", source="Orphanet:3003/ntbt", source="Orphanet:3003"} xref: icd11.foundation:588435239 {source="MONDO:equivalentTo"} @@ -217644,14 +217678,14 @@ subset: orphanet_rare {source="Orphanet:3005"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bakwin-Krida syndrome" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia] -synonym: "chondrodysplasia calcificans metaphysealis" EXACT [OMIM:215050] -synonym: "metaphyseal dysplasia" BROAD [MONDO:0000841, OMIM:265900] +synonym: "chondrodysplasia calcificans metaphysealis" EXACT [] +synonym: "metaphyseal dysplasia" BROAD [MONDO:0000841] synonym: "metaphyseal dysplasia Pyle type" RELATED [GARD:0004612] -synonym: "metaphyseal dysplasia, Pyle type" EXACT [Orphanet:3005] -synonym: "Pyl" RELATED [OMIM:265900] -synonym: "Pyle disease" EXACT [OMIM:265900] +synonym: "metaphyseal dysplasia, Pyle type" EXACT [OMIM:265900, Orphanet:3005] +synonym: "Pyl" RELATED [] +synonym: "Pyle disease" EXACT [icd11.foundation:651364947, OMIM:265900, Orphanet:3005] synonym: "Pyle's disease" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia] -synonym: "Pyle's syndrome" EXACT [Wikipedia:Metaphyseal_dysplasia] +synonym: "Pyle's syndrome" EXACT [ICD10CM:Q78.5, Wikipedia:Metaphyseal_dysplasia] synonym: "Pyle-Cohn syndrome" EXACT [DOID:0080019, Wikipedia:Metaphyseal_dysplasia] xref: DOID:0080019 {source="MONDO:equivalentTo"} xref: GARD:4612 {source="MONDO:GARD"} @@ -217695,14 +217729,14 @@ subset: ordo_disorder {source="Orphanet:3006"} subset: orphanet_rare {source="Orphanet:3006"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AASA dehydrogenase deficiency" RELATED [OMIM:266100] +synonym: "AASA dehydrogenase deficiency" RELATED [] synonym: "antiquitin deficiency" EXACT [Orphanet:3006] -synonym: "EPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266100] -synonym: "Epd" RELATED [OMIM:266100] -synonym: "epilepsy, pyridoxine-dependent" RELATED [MONDO:Lexical, OMIM:266100] +synonym: "EPD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Epd" RELATED [] +synonym: "epilepsy, pyridoxine-dependent" RELATED [MONDO:Lexical] synonym: "pyridoxine dependency" RELATED [GARD:0009298] -synonym: "pyridoxine dependency with seizures" RELATED [OMIM:266100] -synonym: "pyridoxine-dependent epilepsy" EXACT CLINGEN_LABEL [OMIM:266100] +synonym: "pyridoxine dependency with seizures" RELATED [] +synonym: "pyridoxine-dependent epilepsy" EXACT CLINGEN_LABEL [DOID:0080768, Orphanet:3006] synonym: "vitamin B6-dependent seizures" EXACT [Orphanet:3006] xref: DOID:0080768 {source="MONDO:equivalentTo"} xref: GARD:9298 {source="MONDO:GARD"} @@ -217729,19 +217763,19 @@ subset: ordo_disorder {source="Orphanet:35120"} subset: orphanet_rare {source="Orphanet:35120"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anemia, hemolytic, due to UMPH1 deficiency" EXACT [OMIM:266120, OMIM:genemap2] +synonym: "anemia, hemolytic, due to UMPH1 deficiency" EXACT [] synonym: "hemolytic Anaemia due to P5N deficiency" RELATED OMO:0003005 [] synonym: "hemolytic Anaemia due to Umph1 deficiency" RELATED OMO:0003005 [] -synonym: "hemolytic Anemia due to P5N deficiency" RELATED [OMIM:266120] -synonym: "hemolytic Anemia due to Umph1 deficiency" RELATED [OMIM:266120] +synonym: "hemolytic Anemia due to P5N deficiency" RELATED [] +synonym: "hemolytic Anemia due to Umph1 deficiency" RELATED [] synonym: "P5N deficiency" EXACT [OMIM:266120, Orphanet:35120] synonym: "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anaemia due to" RELATED OMO:0003005 [] -synonym: "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to" RELATED [OMIM:266120] -synonym: "UMPH1 deficiency" EXACT [Orphanet:35120] -synonym: "Umph1 deficiency" RELATED [OMIM:266120] +synonym: "pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to" RELATED [] +synonym: "UMPH1 deficiency" EXACT [OMIM:266120, Orphanet:35120] +synonym: "Umph1 deficiency" RELATED [] synonym: "uridine 5'-monophosphate hydrolase deficiency" EXACT [Orphanet:35120] synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to" RELATED OMO:0003005 [] -synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to" RELATED [OMIM:266120] +synonym: "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to" RELATED [] xref: GARD:16635 {source="MONDO:GARD"} xref: ICD10CM:D55.3 {source="Orphanet:35120", source="Orphanet:35120/attributed", source="Orphanet:35120/ntbt"} xref: MEDGEN:341470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -217762,10 +217796,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:289846"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "5-oxoprolinuria" RELATED [OMIM:266130] -synonym: "glutathione synthetase deficiency" RELATED [MONDO:Lexical, OMIM:266130] -synonym: "GSSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266130] -synonym: "pyroglutamic aciduria" RELATED [OMIM:266130] +synonym: "5-oxoprolinuria" RELATED [] +synonym: "glutathione synthetase deficiency" RELATED [MONDO:Lexical] +synonym: "GSSD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pyroglutamic aciduria" RELATED [] xref: DOID:0081034 {source="MONDO:equivalentTo"} xref: GARD:17330 {source="MONDO:GARD"} xref: ICD10CM:D55.1 {source="Orphanet:289846", source="Orphanet:289846/attributed", source="Orphanet:289846/ntbt"} @@ -217791,9 +217825,9 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1276"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary pyropoikilocytosis" RELATED [GARD:0004619] -synonym: "HPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266140] +synonym: "HPP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Hypophosphatasia" EXACT [NORD:1276] -synonym: "pyropoikilocytosis" EXACT [OMIM:266140, OMIM:genemap2] +synonym: "pyropoikilocytosis" EXACT [] synonym: "pyropoikilocytosis hereditary" RELATED [GARD:0004619] synonym: "pyropoikilocytosis, hereditary" EXACT [MONDO:Lexical, OMIM:266140] xref: GARD:4619 {source="MONDO:GARD"} @@ -217822,16 +217856,16 @@ subset: ordo_disorder {source="Orphanet:3008"} subset: orphanet_rare {source="Orphanet:3008"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ataxia with lactic acidosis 2" RELATED [OMIM:266150] +synonym: "ataxia with lactic acidosis 2" RELATED [] synonym: "ataxia with lactic acidosis type 2" EXACT [Orphanet:3008] -synonym: "ataxia with lactic acidosis type II" EXACT [Orphanet:3008] +synonym: "ataxia with lactic acidosis type II" EXACT [icd11.foundation:2047948460, Orphanet:3008] synonym: "deficiency of pyruvic carboxylase" EXACT [DOID:3651] -synonym: "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency" EXACT [Orphanet:3008] +synonym: "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency" EXACT [OMIM:266150, Orphanet:3008] synonym: "Leigh syndrome due to PC deficiency" EXACT [Orphanet:3008] synonym: "Leigh syndrome due to pyruvate carboxylase deficiency" EXACT [OMIM:266150, Orphanet:3008] -synonym: "Pc deficiency" RELATED [OMIM:266150] -synonym: "pyruvate carboxylase deficiency" RELATED [OMIM:266150] -synonym: "pyruvate carboxylase deficiency disease" EXACT CLINGEN_LABEL [] +synonym: "Pc deficiency" RELATED [] +synonym: "pyruvate carboxylase deficiency" RELATED [] +synonym: "pyruvate carboxylase deficiency disease" EXACT CLINGEN_LABEL [DOID:3651, NCIT:C85040] xref: DOID:3651 {source="EFO:1001142", source="MONDO:equivalentTo"} xref: EFO:1001142 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7512 {source="MONDO:GARD"} @@ -217864,14 +217898,14 @@ subset: rare synonym: "hemolytic Anaemia due to pyruvate Kinase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic anaemia due to red cell pyruvate kinase deficiency" EXACT OMO:0003005 [] synonym: "hemolytic Anemia due to pyruvate Kinase deficiency" EXACT [NCIT:C99037] -synonym: "hemolytic anemia due to red cell pyruvate kinase deficiency" EXACT [DOID:0111077] -synonym: "PK deficiency" EXACT [DOID:0111077] -synonym: "Pk deficiency" RELATED [OMIM:266200] -synonym: "Pyruvate Kinase Deficiency" EXACT [NORD:1642] +synonym: "hemolytic anemia due to red cell pyruvate kinase deficiency" EXACT [DOID:0111077, Orphanet:766] +synonym: "PK deficiency" EXACT [DOID:0111077, OMIM:266200] +synonym: "Pk deficiency" RELATED [] +synonym: "Pyruvate Kinase Deficiency" EXACT [NCIT:C99037, NORD:1642] synonym: "pyruvate kinase deficiency" RELATED [GARD:0007514] synonym: "pyruvate kinase deficiency of erythrocyte" EXACT [DOID:0111077, OMIM:266200] synonym: "pyruvate kinase deficiency of erythrocytes" EXACT [Orphanet:766] -synonym: "pyruvate kinase deficiency of red cells" EXACT [OMIM:266200] +synonym: "pyruvate kinase deficiency of red cells" EXACT [DOID:0111077, OMIM:266200] xref: DOID:0111077 {source="MONDO:equivalentTo"} xref: GARD:7514 {source="MONDO:GARD"} xref: ICD10CM:D55.2 {source="Orphanet:766/inclusion", source="Orphanet:766", source="Orphanet:766/ntbt"} @@ -217917,8 +217951,8 @@ subset: rare synonym: "der Kaloustian mcintosh silver syndrome" RELATED [] synonym: "Der Kaloustian-McIntosh-Silver syndrome" EXACT [Orphanet:3270] synonym: "radioulnar synostosis with developmental delay and hypotonia syndrome" EXACT [] -synonym: "radioulnar synostosis, unilateral, with developintellectual disability and hypotonia" RELATED [OMIM:266255] -synonym: "radioulnar synostosis, unilateral, with developmental retardation and hypotonia" RELATED DEPRECATED [OMIM:266255] +synonym: "radioulnar synostosis, unilateral, with developintellectual disability and hypotonia" RELATED [] +synonym: "radioulnar synostosis, unilateral, with developmental retardation and hypotonia" RELATED DEPRECATED [] synonym: "unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance" RELATED OMO:0003005 [] synonym: "unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance" RELATED OMO:0003005 [] synonym: "unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance" RELATED [GARD:0001810] @@ -217951,22 +217985,23 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:99843"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CDG 2C" RELATED [GARD:0004634] -synonym: "CDG IIc" EXACT [DOID:0070255] +synonym: "CDG IIc" EXACT ABBREVIATION [DOID:0070255, OMIM:266265] synonym: "CDG syndrome type IIc" EXACT [Orphanet:99843] synonym: "CDG-IIc" EXACT [Orphanet:99843] synonym: "CDG2C" EXACT ABBREVIATION [DOID:0070255, MONDO:Lexical, OMIM:266265, Orphanet:99843] -synonym: "CDGIIc" EXACT [DOID:0070255] +synonym: "CDGIIc" EXACT ABBREVIATION [DOID:0070255, NCIT:C4690] synonym: "congenital disorder of glycosylation type IIC" RELATED [GARD:0004634] -synonym: "congenital disorder of glycosylation, type IIc" RELATED [MONDO:Lexical, OMIM:266265] -synonym: "lad-II" EXACT [Orphanet:99843] +synonym: "congenital disorder of glycosylation, type IIc" RELATED [MONDO:Lexical] +synonym: "LAD-II" EXACT ABBREVIATION [Orphanet:99843] +synonym: "lad-II" EXACT [] synonym: "lad-type II" EXACT [NCIT:C4690] -synonym: "LAD2" EXACT ABBREVIATION [DOID:0070255, GARD:0004634] +synonym: "LAD2" EXACT ABBREVIATION [GARD:0004634] synonym: "leukocyte adhesion deficiency type 2" EXACT [NCIT:C4690] -synonym: "leukocyte adhesion deficiency type II" EXACT CLINGEN_LABEL [] -synonym: "leukocyte adhesion deficiency, type 2" RELATED [OMIM:266265] -synonym: "leukocyte adhesion deficiency, type II" EXACT [DOID:0070255] +synonym: "leukocyte adhesion deficiency type II" EXACT CLINGEN_LABEL [Orphanet:99843] +synonym: "leukocyte adhesion deficiency, type 2" RELATED [] +synonym: "leukocyte adhesion deficiency, type II" EXACT [] synonym: "Rambam-Hasharon syndrome" EXACT [DOID:0070255, OMIM:266265, Orphanet:99843] -synonym: "RHS" EXACT ABBREVIATION [DOID:0070255] +synonym: "RHS" EXACT ABBREVIATION [] synonym: "sialyl-Lewis X defect" EXACT [NCIT:C4690] synonym: "SLC35C1-CDG" EXACT [Orphanet:99843] synonym: "SLC35C1-CDG (CDG-IIc)" RELATED [GARD:0004634] @@ -218000,10 +218035,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:3019"} subset: orphanet_rare {source="Orphanet:3019"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth" RELATED [OMIM:266270] +synonym: "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth" RELATED [] synonym: "cherubism-gingival fibromatosis-intellectual disability syndrome" EXACT [Orphanet:3019] synonym: "gingival fibromatosis combined with cherubism" RELATED [GARD:0007523] -synonym: "Ramon syndrome" EXACT [OMIM:266270] +synonym: "Ramon syndrome" EXACT [icd11.foundation:122538435, OMIM:266270, Orphanet:3019] xref: GARD:7523 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3019", source="Orphanet:3019/attributed", source="Orphanet:3019/ntbt"} xref: icd11.foundation:122538435 {source="MONDO:equivalentTo"} @@ -218033,7 +218068,7 @@ subset: rare synonym: "absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate" RELATED [GARD:0004637] synonym: "radial and patellar aplasia" RELATED [GARD:0004637] synonym: "radial and patellar hypoplasia" RELATED [GARD:0004637] -synonym: "rapadilino syndrome" EXACT [OMIM:266280] +synonym: "rapadilino syndrome" EXACT [DOID:0050774, icd11.foundation:1439614760, OMIM:266280, Orphanet:3021] xref: DOID:0050774 {source="MONDO:equivalentTo"} xref: GARD:4637 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:3021/attributed", source="Orphanet:3021/ntbt", source="Orphanet:3021"} @@ -218090,28 +218125,28 @@ subset: ordo_disorder {source="Orphanet:773"} subset: orphanet_rare {source="Orphanet:773"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult Refsum disease" EXACT CLINGEN_LABEL [MESH:D012035, NCIT:C85043, Orphanet:773] +synonym: "adult Refsum disease" EXACT CLINGEN_LABEL [DOID:10582, MESH:D012035, Orphanet:773] synonym: "adult Refsum disease due to PHYH" EXACT [https://clinicalgenome.org/affiliation/40049/] -synonym: "classic Refsum disease" EXACT [MESH:D012035, NCIT:C85043, Orphanet:773] +synonym: "classic Refsum disease" EXACT [DOID:10582, MESH:D012035, Orphanet:773] synonym: "disorder of cornification 11 (phytanic acid type)" RELATED [GARD:0005691] synonym: "DOC 11 (phytanic acid type)" RELATED [GARD:0005691] -synonym: "hereditary motor and sensory neuropathy 4" EXACT [NCIT:C85043, OMIM:266500] +synonym: "hereditary motor and sensory neuropathy 4" EXACT [OMIM:266500] synonym: "hereditary motor and sensory neuropathy type 4" EXACT [Orphanet:773] -synonym: "hereditary sensory and motor neuropathy type 4" EXACT [GARD:0005691, NCIT:C85043] -synonym: "heredopathia atactica polyneuritiformis" EXACT [DOID:10582, GARD:0005691, ICD9CM:356.3, MESH:D012035, NCIT:C85043, OMIM:266500, Orphanet:773, SCTID:25362006] -synonym: "HMSN 4" EXACT [GARD:0005691, MESH:D012035, NCIT:C85043, OMIM:266500, Orphanet:773] -synonym: "HMSN type IV" EXACT [DOID:10582, MESH:D012035, NCIT:C85043] -synonym: "HSMN IV" EXACT [DOID:10582, MESH:D012035, NCIT:C85043, OMIM:266500, Orphanet:773, SCTID:25362006] -synonym: "hypertrophic neuropathy of Refsum" EXACT [GARD:0005691, NCIT:C85043] -synonym: "phytanic acid oxidase deficiency" EXACT [GARD:0005691, MESH:D012035, NCIT:C85043, OMIM:266500] +synonym: "hereditary sensory and motor neuropathy type 4" EXACT [GARD:0005691] +synonym: "heredopathia atactica polyneuritiformis" EXACT [DOID:10582, GARD:0005691, ICD9CM:356.3, MESH:D012035, OMIM:266500, Orphanet:773, SCTID:25362006] +synonym: "HMSN 4" EXACT [GARD:0005691, MESH:D012035, OMIM:266500, Orphanet:773] +synonym: "HMSN type IV" EXACT [DOID:10582, MESH:D012035] +synonym: "HSMN IV" EXACT ABBREVIATION [DOID:10582, MESH:D012035, SCTID:25362006] +synonym: "hypertrophic neuropathy of Refsum" EXACT [GARD:0005691] +synonym: "phytanic acid oxidase deficiency" EXACT [DOID:10582, GARD:0005691, MESH:D012035, OMIM:266500] synonym: "phytanic-CoA hydroxylase deficiency" EXACT [Orphanet:773] synonym: "RDPA" RELATED ABBREVIATION [GARD:0004371] -synonym: "Refsum Disease" EXACT [NORD:1654] -synonym: "Refsum disease" EXACT [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24, NCIT:C85043, Orphanet:773, SCTID:25362006] -synonym: "Refsum disease with increased pipecolic acidemia" RELATED [MESH:C535517, MONDO:0043181, OMIM:266500] +synonym: "Refsum Disease" EXACT [DOID:10582, NORD:1654, Orphanet:773] +synonym: "Refsum disease" EXACT [DOID:10582, https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24, Orphanet:773, SCTID:25362006] +synonym: "Refsum disease with increased pipecolic acidemia" RELATED [MESH:C535517, MONDO:0043181] synonym: "Refsum disease, adult, 1" EXACT [OMIM:266500] synonym: "Refsum disease, classic" EXACT [MESH:D012035, OMIM:266500] -synonym: "Refsum's disease" EXACT [DOID:10582, ICD9CM:356.3, MESH:D012035, NCIT:C85043, SCTID:25362006] +synonym: "Refsum's disease" EXACT [DOID:10582, ICD10CM:G60.1, ICD9CM:356.3, MESH:D012035, SCTID:25362006] xref: DOID:10582 {source="MONDO:equivalentTo"} xref: GARD:5691 {source="MONDO:GARD"} xref: ICD10CM:G60.1 {source="Orphanet:773/specific", source="Orphanet:773/e", source="MONDO:equivalentTo", source="DOID:10582", source="Orphanet:773"} @@ -218152,10 +218187,10 @@ subset: gard_rare {source="GARD:15226", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "infantile phytanic acid storage disease" EXACT [DOID:0050444] -synonym: "PBD3B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266510] -synonym: "peroxisome biogenesis disorder 3B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:266510] -synonym: "peroxisome biogenesis disorder type 3B" EXACT [MONDORULE:4, OMIM:266510] +synonym: "infantile phytanic acid storage disease" EXACT [] +synonym: "PBD3B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 3B" EXACT CLINGEN_LABEL [DOID:0081241, MONDO:Lexical, OMIM:266510] +synonym: "peroxisome biogenesis disorder type 3B" EXACT [MONDORULE:4] xref: DOID:0081241 {source="MONDO:equivalentTo"} xref: GARD:15226 {source="MONDO:GARD"} xref: ICD10CM:G60.1 {source="DOID:0050444"} @@ -218177,20 +218212,20 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0009960 name: inflammatory bowel disease 1 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene." [MONDO:patterns/disease_series_by_gene] -synonym: "Crohn disease" RELATED [OMIM:266600] -synonym: "crohn disease-associated growth failure" EXACT [OMIM:266600, OMIM:genemap2] -synonym: "Crohn disease-associated Growth failure, susceptibility to" RELATED [OMIM:266600] +synonym: "Crohn disease" RELATED [] +synonym: "crohn disease-associated growth failure" EXACT [] +synonym: "Crohn disease-associated Growth failure, susceptibility to" RELATED [] synonym: "IBD1" EXACT ABBREVIATION [DOID:0110892, MONDO:Lexical, OMIM:266600] -synonym: "inflammatory bowel disease (Crohn disease) 1" RELATED [OMIM:266600] -synonym: "inflammatory bowel disease 1" EXACT [MONDO:Lexical, OMIM:266600] -synonym: "inflammatory bowel disease 1, Crohn disease" EXACT [OMIM:266600, OMIM:genemap2] +synonym: "inflammatory bowel disease (Crohn disease) 1" RELATED [] +synonym: "inflammatory bowel disease 1" EXACT [DOID:0110892, MONDO:Lexical] +synonym: "inflammatory bowel disease 1, Crohn disease" EXACT [] synonym: "inflammatory bowel disease caused by mutation in NOD2" EXACT [] -synonym: "inflammatory bowel disease type 1" EXACT [DOID:0110892, MONDORULE:1, OMIM:266600] +synonym: "inflammatory bowel disease type 1" EXACT [MONDORULE:1] synonym: "NOD2 inflammatory bowel disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "paediatric ulcerative colitis" RELATED OMO:0003005 [] synonym: "pediatric ulcerative colitis" RELATED [GARD:0009857] -synonym: "regional enteritis" RELATED [OMIM:266600] -synonym: "ulcerative colitis" RELATED [OMIM:266600] +synonym: "regional enteritis" RELATED [] +synonym: "ulcerative colitis" RELATED [] synonym: "ulcerative colitis, paediatric" RELATED OMO:0003005 [] synonym: "ulcerative colitis, pediatric" RELATED [GARD:0009857] xref: DOID:0110892 {source="MONDO:equivalentTo"} @@ -218221,18 +218256,18 @@ def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "juvenile nephronophthisis with Leber amaurosis" RELATED [OMIM:266900] -synonym: "Loken-Senior syndrome" RELATED [OMIM:266900] +synonym: "juvenile nephronophthisis with Leber amaurosis" RELATED [] +synonym: "Loken-Senior syndrome" RELATED [] synonym: "NPHP1 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "renal dysplasia and retinal aplasia" RELATED [OMIM:266900] -synonym: "renal-retinal syndrome" RELATED [OMIM:266900] -synonym: "Senior-Loken syndrome" RELATED [OMIM:266900] -synonym: "SENIOR-Loken syndrome 1" RELATED [OMIM:266900] +synonym: "renal dysplasia and retinal aplasia" RELATED [] +synonym: "renal-retinal syndrome" RELATED [] +synonym: "Senior-Loken syndrome" RELATED [] +synonym: "SENIOR-Loken syndrome 1" RELATED [] synonym: "Senior-Loken syndrome 1" EXACT [MONDO:Lexical, OMIM:266900] synonym: "Senior-Loken syndrome caused by mutation in NPHP1" EXACT [MONDO:design_pattern] -synonym: "Senior-Loken syndrome type 1" EXACT [MONDORULE:1, OMIM:266900] -synonym: "senior-loken syndrome-1" EXACT [OMIM:266900, OMIM:genemap2] -synonym: "SLSN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266900] +synonym: "Senior-Loken syndrome type 1" EXACT [MONDORULE:1] +synonym: "senior-loken syndrome-1" EXACT [] +synonym: "SLSN1" RELATED ABBREVIATION [MONDO:Lexical] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:1639722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:266900 {source="MONDO:equivalentTo"} @@ -218261,7 +218296,7 @@ synonym: "renal dysplasia limb defects syndrome" RELATED [GARD:0005394] synonym: "renal dysplasia, mesomelia, and radiohumeral fusion" RELATED [GARD:0005394] synonym: "renal dysplasia-limb defects syndrome" EXACT [OMIM:266910, Orphanet:3404] synonym: "renal dysplasia-mesomelia-radiohumeral fusion syndrome" EXACT [Orphanet:3404] -synonym: "RL syndrome" RELATED [OMIM:266910] +synonym: "RL syndrome" RELATED [] synonym: "Ulbright Hodes syndrome" RELATED [GARD:0005394] xref: GARD:5394 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3404", source="Orphanet:3404/attributed", source="Orphanet:3404/ntbt"} @@ -218289,10 +218324,10 @@ synonym: "Conorenal syndrome" EXACT [OMIM:266920, Orphanet:140969] synonym: "Mainzer Saldino syndrome" EXACT [GARD:0008600] synonym: "Mainzer-Saldino syndrome" EXACT [OMIM:266920] synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia" EXACT [DOID:0110097] -synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia" RELATED [OMIM:266920] +synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia" RELATED [] synonym: "renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome" EXACT [Orphanet:140969] -synonym: "Saldino-Mainzer syndrome" EXACT [MONDO:0015373] -synonym: "short-rib thoracic dysplasia 9 with or without polydactyly" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:266920] +synonym: "Saldino-Mainzer syndrome" EXACT [MONDO:0015373, Orphanet:140969] +synonym: "short-rib thoracic dysplasia 9 with or without polydactyly" EXACT CLINGEN_LABEL [DOID:0110097, MONDO:Lexical, OMIM:266920] synonym: "SRTD9" EXACT ABBREVIATION [DOID:0110097, MONDO:Lexical, OMIM:266920] xref: DOID:0110097 {source="MONDO:equivalentTo"} xref: GARD:15227 {source="MONDO:GARD"} @@ -218330,16 +218365,16 @@ synonym: "nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour" EXAC synonym: "nephroblastomatosis fetal ascites macrosomia and Wilms tumor" RELATED [GARD:0003936] synonym: "nephroblastomatosis foetal ascites macrosomia and Wilms tumour" RELATED OMO:0003005 [] synonym: "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" EXACT [DOID:0060476] -synonym: "nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor" RELATED [OMIM:267000] +synonym: "nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor" RELATED [] synonym: "nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour" EXACT OMO:0003005 [] synonym: "nephroblastomatosis, foetal ascites, macrosomia, and Wilms tumour" RELATED OMO:0003005 [] synonym: "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome" EXACT [Orphanet:2849] synonym: "nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome" EXACT OMO:0003005 [] -synonym: "Perlman syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:267000] -synonym: "PRLMNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:267000] -synonym: "renal hamartomas, nephroblastomatosis and fetal gigantism" EXACT [DOID:0060476] +synonym: "Perlman syndrome" EXACT CLINGEN_LABEL [DOID:0060476, icd11.foundation:795682441, MONDO:Lexical, NCIT:C103144, OMIM:267000, Orphanet:2849] +synonym: "PRLMNS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "renal hamartomas, nephroblastomatosis and fetal gigantism" EXACT [DOID:0060476, NCIT:C103144] synonym: "renal hamartomas, nephroblastomatosis and foetal gigantism" EXACT OMO:0003005 [] -synonym: "renal hamartomas, nephroblastomatosis, and fetal gigantism" RELATED [OMIM:267000] +synonym: "renal hamartomas, nephroblastomatosis, and fetal gigantism" RELATED [] synonym: "renal hamartomas, nephroblastomatosis, and foetal gigantism" RELATED OMO:0003005 [] xref: DOID:0060476 {source="MONDO:equivalentTo"} xref: GARD:3936 {source="MONDO:GARD"} @@ -218369,15 +218404,15 @@ subset: orphanet_rare {source="Orphanet:3032"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia" RELATED [GARD:0004665] -synonym: "Goldston syndrome" EXACT [Orphanet:3032] +synonym: "Goldston syndrome" EXACT [OMIM:267010, Orphanet:3032] synonym: "Meckel syndrome 7" RELATED [GARD:0004665] synonym: "Meckel syndrome type 7" EXACT [Orphanet:3032] -synonym: "Meckel syndrome, type 7" RELATED [MONDO:Lexical, OMIM:267010] +synonym: "Meckel syndrome, type 7" RELATED [MONDO:Lexical] synonym: "Meckel-Gruber syndrome, type 7" EXACT [DOID:0070121] synonym: "Meckel-like syndrome type 1" EXACT [Orphanet:3032] synonym: "MKS7" EXACT ABBREVIATION [DOID:0070121, MONDO:Lexical, OMIM:267010] -synonym: "NPHP3-related Meckel-like syndrome" EXACT [GARD:0004665] -synonym: "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst" RELATED [OMIM:267010] +synonym: "NPHP3-related Meckel-like syndrome" EXACT [GARD:0004665, Orphanet:3032] +synonym: "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst" RELATED [] synonym: "renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome" EXACT [GARD:0004665, Orphanet:3032] xref: DOID:0070121 {source="MONDO:equivalentTo"} xref: GARD:4665 {source="MONDO:GARD"} @@ -218401,7 +218436,7 @@ subset: gard_rare {source="GARD:15228", source="MONDO:GARD"} subset: rare synonym: "bicarbonate-wasting RTA" RELATED [GARD:0004670] synonym: "renal tubular acidosis 3" EXACT [MONDORULE:1, OMIM:267200] -synonym: "renal tubular acidosis III" EXACT [OMIM:267200] +synonym: "renal tubular acidosis III" EXACT [] synonym: "renal tubular acidosis, distal, type 3" RELATED [GARD:0004670] synonym: "RTA, bicarbonate-wasting type" EXACT [OMIM:267200] synonym: "RTA, dislocation type" EXACT [OMIM:267200] @@ -218426,16 +218461,16 @@ synonym: "AR dRTA with deafness" RELATED [GARD:0004666] synonym: "AR dRTA with hearing loss" RELATED [GARD:0004666] synonym: "autosomal recessive distal renal tubular acidosis with deafness" RELATED [GARD:0004666] synonym: "autosomal recessive distal renal tubular acidosis with hearing loss" RELATED [GARD:0004666] -synonym: "distal renal tubular acidosis 2 with progressive sensorineural hearing loss" EXACT [OMIM:267300, OMIM:genemap2] +synonym: "distal renal tubular acidosis 2 with progressive sensorineural hearing loss" EXACT [] synonym: "distal renal tubular acidosis co-occurrent with sensorineural deafness" EXACT [] synonym: "renal tubular acidosis progressive nerve deafness" RELATED [GARD:0004666] synonym: "renal tubular acidosis type 1b" RELATED [GARD:0004666] synonym: "renal tubular acidosis with deafness" RELATED [GARD:0004666] -synonym: "renal tubular acidosis with progressive nerve deafness" RELATED [OMIM:267300] -synonym: "renal tubular acidosis, autosomal recessive, with progressive nerve deafness" RELATED [OMIM:267300] -synonym: "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" EXACT CLINGEN_LABEL [] -synonym: "renal tubular acidosis, distal, with progressive nerve deafness" EXACT [OMIM:267300] -synonym: "RTA with progressive nerve deafness" RELATED [OMIM:267300] +synonym: "renal tubular acidosis with progressive nerve deafness" RELATED [] +synonym: "renal tubular acidosis, autosomal recessive, with progressive nerve deafness" RELATED [] +synonym: "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" EXACT CLINGEN_LABEL [OMIM:267300] +synonym: "renal tubular acidosis, distal, with progressive nerve deafness" EXACT [] +synonym: "RTA with progressive nerve deafness" RELATED [] xref: GARD:15229 {source="MONDO:GARD"} xref: ICD9:389.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -218463,7 +218498,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1092"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "renal genital middle ear anomalies" RELATED [GARD:0004664] -synonym: "renal, genital, and middle EAR anomalies" RELATED [OMIM:267400] +synonym: "renal, genital, and middle EAR anomalies" RELATED [] xref: GARD:4664 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1092/attributed", source="Orphanet:1092/ntbt", source="Orphanet:1092"} xref: MEDGEN:341454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -218485,11 +218520,11 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:97369"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "genetic renal tubular dysgenesis" EXACT [MONDO:patterns/genetic] -synonym: "primitive renal tubule syndrome" RELATED [OMIM:267430] -synonym: "renal tubular dysgenesis" RELATED [MONDO:Lexical, OMIM:267430] -synonym: "renal tubular dysgenesis of genetic origin" EXACT CLINGEN_LABEL [] -synonym: "renal tubular dysgenesis with choanal atresia and athelia" RELATED [OMIM:267430] -synonym: "RTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:267430] +synonym: "primitive renal tubule syndrome" RELATED [] +synonym: "renal tubular dysgenesis" RELATED [MONDO:Lexical] +synonym: "renal tubular dysgenesis of genetic origin" EXACT CLINGEN_LABEL [icd11.foundation:616055520, Orphanet:97369] +synonym: "renal tubular dysgenesis with choanal atresia and athelia" RELATED [] +synonym: "RTD" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16854 {source="MONDO:GARD"} xref: ICD10CM:Q63.8 {source="Orphanet:97369/attributed", source="Orphanet:97369/ntbt", source="Orphanet:97369"} xref: icd11.foundation:616055520 {source="MONDO:equivalentTo"} @@ -218515,16 +218550,16 @@ subset: ordo_disorder {source="Orphanet:70587"} subset: orphanet_rare {source="Orphanet:70587"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyaline Membrane disease" RELATED [OMIM:267450] -synonym: "hyaline Membrane disease, formerly" RELATED [OMIM:267450] +synonym: "hyaline Membrane disease" RELATED [] +synonym: "hyaline Membrane disease, formerly" RELATED [] synonym: "infantile respiratory distress syndrome" RELATED [GARD:0000112] synonym: "IRDS" RELATED ABBREVIATION [GARD:0000112] synonym: "NRDS" RELATED ABBREVIATION [GARD:0000112] -synonym: "RDS" BROAD ABBREVIATION [NCIT:C27560] +synonym: "RDS" BROAD ABBREVIATION [] synonym: "RDS - infants" RELATED [GARD:0000112] synonym: "RDS of prematurity" EXACT [OMIM:267450] -synonym: "respiratory distress syndrome" BROAD [NCIT:C27560] -synonym: "respiratory distress syndrome in premature infants" EXACT [OMIM:267450] +synonym: "respiratory distress syndrome" BROAD [] +synonym: "respiratory distress syndrome in premature infants" EXACT [] synonym: "Respiratory Distress Syndrome, Infant" EXACT [NORD:1659] synonym: "respiratory distress syndrome, infant" RELATED [GARD:0000112] xref: GARD:112 {source="MONDO:GARD"} @@ -218566,18 +218601,18 @@ subset: orphanet_rare {source="Orphanet:33355"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AK2 deficiency" EXACT [Orphanet:33355] -synonym: "aleukocytosis" RELATED [DOID:0060020, OMIM:267500] -synonym: "congenital Aleukia" RELATED [OMIM:267500] +synonym: "aleukocytosis" RELATED [DOID:0060020] +synonym: "congenital Aleukia" RELATED [] synonym: "congenital aleukocytosis" EXACT [Orphanet:33355] -synonym: "De Vaal disease" EXACT [DOID:0060020, OMIM:267500, Orphanet:33355] +synonym: "De Vaal disease" EXACT [DOID:0060020, Orphanet:33355] synonym: "DeVaal disease" RELATED [GARD:0008625] synonym: "generalised haematopoietic hypoplasia" EXACT OMO:0003005 [] synonym: "generalized hematopoietic hypoplasia" EXACT [Orphanet:33355] synonym: "haematopoietic hypoplasia, generalised" RELATED OMO:0003005 [] -synonym: "hematopoietic hypoplasia, generalized" RELATED [OMIM:267500] +synonym: "hematopoietic hypoplasia, generalized" RELATED [] synonym: "RD" RELATED ABBREVIATION [GARD:0008625] -synonym: "reticular Dysgenesia" RELATED [OMIM:267500] -synonym: "reticular dysgenesis" EXACT CLINGEN_LABEL [OMIM:267500] +synonym: "reticular Dysgenesia" RELATED [] +synonym: "reticular dysgenesis" EXACT CLINGEN_LABEL [DOID:0060020, NCIT:C27070, OMIM:267500, Orphanet:33355] synonym: "SCID with leukopenia" EXACT [Orphanet:33355] synonym: "severe combined immunodeficiency with leukopenia" EXACT [OMIM:267500, Orphanet:33355] xref: DOID:0060020 {source="MONDO:equivalentTo"} @@ -218613,20 +218648,20 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "Erythrophagocytic lymphohistiocytosis, familial" RELATED [OMIM:267700] -synonym: "familial hemophagocytic lymphohistiocytosis" BROAD [NCIT:C61276] -synonym: "familial hemophagocytic lymphohistiocytosis 1" RELATED [DOID:0110921] -synonym: "familial hemophagocytic lymphohistiocytosis type 1" EXACT [DOID:0110921, MONDORULE:1] -synonym: "familial HLH" EXACT [Orphanet:540] +synonym: "Erythrophagocytic lymphohistiocytosis, familial" RELATED [] +synonym: "familial hemophagocytic lymphohistiocytosis" BROAD [] +synonym: "familial hemophagocytic lymphohistiocytosis 1" RELATED [] +synonym: "familial hemophagocytic lymphohistiocytosis type 1" EXACT [MONDORULE:1] +synonym: "familial HLH" EXACT [] synonym: "FHL1" EXACT ABBREVIATION [DOID:0110921, MONDO:Lexical, OMIM:267700] -synonym: "hemophagocytic lymphohistiocytosis, familial" RELATED [OMIM:267700] -synonym: "hemophagocytic lymphohistiocytosis, familial, 1" RELATED [MONDO:Lexical, OMIM:267700] -synonym: "hemophagocytic reticulosis, familial" RELATED [OMIM:267700] -synonym: "HLH1" EXACT ABBREVIATION [DOID:0110921] -synonym: "Hlh1" RELATED [OMIM:267700] -synonym: "HPLH1" EXACT ABBREVIATION [DOID:0110921] -synonym: "Hplh1" RELATED [OMIM:267700] -synonym: "reticulosis, familial histiocytic" RELATED [OMIM:267700] +synonym: "hemophagocytic lymphohistiocytosis, familial" RELATED [] +synonym: "hemophagocytic lymphohistiocytosis, familial, 1" RELATED [MONDO:Lexical] +synonym: "hemophagocytic reticulosis, familial" RELATED [] +synonym: "HLH1" EXACT ABBREVIATION [DOID:0110921, OMIM:267700] +synonym: "Hlh1" RELATED [] +synonym: "HPLH1" EXACT ABBREVIATION [DOID:0110921, OMIM:267700] +synonym: "Hplh1" RELATED [] +synonym: "reticulosis, familial histiocytic" RELATED [] xref: DOID:0110921 {source="MONDO:equivalentTo"} xref: ICD10CM:D76.1 {source="Orphanet:540/attributed", source="Orphanet:540/ntbt", source="Orphanet:540"} xref: MedDRA:10070904 {source="Orphanet:540/e", source="Orphanet:540"} @@ -218657,8 +218692,8 @@ synonym: "interdigitating cell sarcoma" EXACT [Orphanet:86900] synonym: "large-cell Lymphomas" EXACT [DOID:8538, MTH:NOCODE] synonym: "reticular cell sarcoma" EXACT [MONDO:patterns/location] synonym: "reticulosarcoma" EXACT [DOID:8538, NCIT:C27824] -synonym: "Reticulum cell sarcoma" EXACT [Orphanet:86900] -synonym: "reticulum cell sarcoma" EXACT [OMIM:267730] +synonym: "Reticulum cell sarcoma" EXACT [OMIM:267730, Orphanet:86900] +synonym: "reticulum cell sarcoma" EXACT [OMIM:267730, Orphanet:86900] synonym: "sarcoma of reticular cell" EXACT [MONDO:patterns/sarcoma] xref: DOID:8538 {source="MONDO:equivalentTo", source="EFO:0005287"} xref: EFO:0005287 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -218723,7 +218758,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MacKay Shek Carr syndrome" RELATED [GARD:0000395] synonym: "Mackay-Shek-Carr syndrome" EXACT [Orphanet:1574] -synonym: "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" RELATED [OMIM:267760] +synonym: "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" RELATED [] synonym: "retinal degeneration, nanophthalmos, glaucoma" RELATED [GARD:0000395] xref: GARD:395 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:1574", source="Orphanet:1574/attributed", source="Orphanet:1574/ntbt", source="MONDO:directSiblingOf"} @@ -218747,7 +218782,7 @@ subset: orphanet_rare {source="Orphanet:99002"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "reticular dystrophy of retinal pigment epithelium" EXACT [MONDO:0008370, OMIM:179840] -synonym: "retinal dystrophy, reticular pigmentary, of POSTERIOR POLE" RELATED [MESH:C564844, OMIM:267800, UMLS:C1849407] +synonym: "retinal dystrophy, reticular pigmentary, of POSTERIOR POLE" RELATED [MESH:C564844, UMLS:C1849407] xref: GARD:16891 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99002/attributed", source="Orphanet:99002/ntbt", source="Orphanet:99002"} xref: icd11.foundation:878593681 {source="MONDO:equivalentTo"} @@ -218803,12 +218838,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:3085"} subset: orphanet_rare {source="Orphanet:3085"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability" RELATED [OMIM:268020] -synonym: "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation" RELATED DEPRECATED [OMIM:268020] -synonym: "retinitis pigmentosa, deafness, intellectual disability, and hypogonadism" RELATED [OMIM:268020] -synonym: "retinitis pigmentosa, deafness, mental retardation, and hypogonadism" RELATED DEPRECATED [OMIM:268020] +synonym: "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability" RELATED [] +synonym: "insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation" RELATED DEPRECATED [] +synonym: "retinitis pigmentosa, deafness, intellectual disability, and hypogonadism" RELATED [] +synonym: "retinitis pigmentosa, deafness, mental retardation, and hypogonadism" RELATED DEPRECATED [] synonym: "retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome" EXACT [Orphanet:3085] -synonym: "retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome" RELATED [Orphanet:3085] +synonym: "retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome" RELATED [] synonym: "retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome" EXACT [Orphanet:3085] xref: GARD:4683 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3085/attributed", source="Orphanet:3085/ntbt", source="Orphanet:3085"} @@ -218831,8 +218866,8 @@ def: "A retinitis pigmentosa that is characterized by onset of symptoms in the f subset: gard_rare {source="GARD:15230", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa, 'Senile'" RELATED [OMIM:268025] -synonym: "retinitis pigmentosa, late-ADULT onset" RELATED [OMIM:268025] +synonym: "retinitis pigmentosa, 'Senile'" RELATED [] +synonym: "retinitis pigmentosa, late-ADULT onset" RELATED [] synonym: "senile retinitis pigmentosa" EXACT [DOID:0110421] xref: DOID:0110421 {source="MONDO:equivalentTo"} xref: GARD:15230 {source="MONDO:GARD"} @@ -218852,7 +218887,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:3087"} subset: rare synonym: "retinohepatoendocrinologic syndrome" EXACT [OMIM:268040] -synonym: "rhe syndrome" RELATED [OMIM:268040] +synonym: "rhe syndrome" RELATED [] xref: GARD:4685 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3087/attributed", source="Orphanet:3087/ntbt", source="Orphanet:3087"} xref: MEDGEN:340315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -218868,12 +218903,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4685/retinoh [Term] id: MONDO:0009986 name: retinopathy, pigmentary, and intellectual disability -synonym: "Mirhosseini-Holmes-Walton syndrome" RELATED [OMIM:268050] +synonym: "Mirhosseini-Holmes-Walton syndrome" RELATED [] synonym: "retinal pigmentary degeneration, microcephaly, and severe intellectual disability" RELATED [GARD:0004688] synonym: "retinal pigmentary degeneration, microcephaly, and severe mental retardation" RELATED DEPRECATED [GARD:0004688] synonym: "retinopathy pigmentary intellectual disability" RELATED [GARD:0004688] synonym: "retinopathy pigmentary mental retardation" RELATED DEPRECATED [GARD:0004688] -synonym: "retinopathy, pigmentary, and intellectual disability" EXACT [OMIM:268050] +synonym: "retinopathy, pigmentary, and intellectual disability" EXACT [] synonym: "retinopathy, pigmentary, and mental retardation" EXACT DEPRECATED [OMIM:268050] xref: MEDGEN:167101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538367 {source="MONDO:equivalentTo"} @@ -218889,8 +218924,8 @@ def: "A retinitis pigmentosa that is characterized autosomal recessive inheritan subset: gard_rare {source="GARD:15231", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa, pericentral" RELATED [OMIM:268060] -synonym: "retinopathy, pericentral pigmentary, autosomal recessive" RELATED [OMIM:268060] +synonym: "retinitis pigmentosa, pericentral" RELATED [] +synonym: "retinopathy, pericentral pigmentary, autosomal recessive" RELATED [] xref: DOID:0110422 {source="MONDO:equivalentTo"} xref: GARD:15231 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110422"} @@ -218938,12 +218973,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:3088"} subset: orphanet_rare {source="Orphanet:3088"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DKCA5" EXACT ABBREVIATION [DOID:0070026] +synonym: "DKCA5" EXACT ABBREVIATION [DOID:0070026, NCIT:C152064] synonym: "dyskeratosis congenita with bilateral exudative retinopathy" EXACT [Orphanet:3088] synonym: "dyskeratosis congenita, autosomal dominant 5" EXACT [DOID:0070026, OMIM:268130] -synonym: "exudative retinopathy with bone marrow failure" EXACT [DOID:0070026, OMIM:268130] +synonym: "exudative retinopathy with bone marrow failure" EXACT [DOID:0070026, NCIT:C152064, OMIM:268130] synonym: "retinopathy-anemia-central nervous system anomalies syndrome" EXACT [Orphanet:3088] -synonym: "Revesz syndrome" EXACT [OMIM:268130] +synonym: "Revesz syndrome" EXACT [DOID:0070026, NCIT:C152064, OMIM:268130, Orphanet:3088] synonym: "Revesz-DeBuse syndrome" EXACT [Orphanet:3088] xref: DOID:0070026 {source="MONDO:equivalentTo"} xref: GARD:4695 {source="MONDO:GARD"} @@ -218972,8 +219007,8 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18251", source="MONDO:GARD"} subset: rare synonym: "myoglobinuria, acute recurrent, autosomal recessive" EXACT CLINGEN_LABEL [OMIM:268200] -synonym: "myoglobinuria, familial paroxysmal paralytic" RELATED [OMIM:268200] -synonym: "rhabdomyolysis, acute recurrent" RELATED [OMIM:268200] +synonym: "myoglobinuria, familial paroxysmal paralytic" RELATED [] +synonym: "rhabdomyolysis, acute recurrent" RELATED [] xref: GARD:18251 {source="MONDO:GARD"} xref: MEDGEN:340308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564832 {source="MONDO:equivalentTo"} @@ -218995,16 +219030,16 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:99757"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "botryoid rhabdomyosarcoma (type of ERMS)" RELATED [GARD:0004702] -synonym: "embryonal rhabdomyosarcoma" EXACT [MONDO:ambiguous, NCIT:C8971] +synonym: "embryonal rhabdomyosarcoma" EXACT [DOID:3246, MONDO:ambiguous, NCIT:C8971, Orphanet:99757] synonym: "embryonal rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "ERMS" EXACT ABBREVIATION [NCIT:C8971] -synonym: "rhabdomyosarcoma 1" RELATED [OMIM:268210] -synonym: "rhabdomyosarcoma chromosomal region" RELATED [OMIM:268210] +synonym: "rhabdomyosarcoma 1" RELATED [] +synonym: "rhabdomyosarcoma chromosomal region" RELATED [] synonym: "rhabdomyosarcoma embryonal" RELATED [GARD:0004702] -synonym: "rhabdomyosarcoma, embryonal, 1" RELATED [MONDO:Lexical, OMIM:268210] -synonym: "rhabdomyosarcoma, embryonal, type 1" EXACT [MONDORULE:1, OMIM:268210] -synonym: "rhabdomyosarcoma, somatic" EXACT [OMIM:268210, OMIM:genemap2] -synonym: "RMSE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268210] +synonym: "rhabdomyosarcoma, embryonal, 1" RELATED [MONDO:Lexical] +synonym: "rhabdomyosarcoma, embryonal, type 1" EXACT [MONDORULE:1] +synonym: "rhabdomyosarcoma, somatic" EXACT [] +synonym: "RMSE1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "spindle cell rhabdomyosarcomas (type of ERMS)" RELATED [GARD:0004702] xref: DOID:3246 {source="MONDO:equivalentTo", source="EFO:0000437"} xref: EFO:0000437 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -219039,20 +219074,21 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:99756"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alveolar childhood rhabdomyosarcoma" EXACT [DOID:4051] -synonym: "alveolar rhabdomyosarcoma" EXACT [DOID:4051, MONDO:ambiguous, NCIT:C3749] +synonym: "alveolar rhabdomyosarcoma" EXACT [DOID:4051, icd11.foundation:1742058067, MONDO:ambiguous, NCIT:C3749, Orphanet:99756] synonym: "alveolar rhabdomyosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "alveolar rhabdomyosarcoma (morphologic abnormality)" EXACT [DOID:4051] -synonym: "arms" EXACT [NCIT:C3749] +synonym: "alveolar rhabdomyosarcoma (morphologic abnormality)" EXACT [] +synonym: "ARMS" EXACT ABBREVIATION [NCIT:C3749] +synonym: "arms" EXACT [] synonym: "monomorphous round cell rhabdomyosarcoma" EXACT [NCIT:C3749] synonym: "paediatric alveolar rhabdomyosarcoma" EXACT OMO:0003005 [] -synonym: "pediatric alveolar rhabdomyosarcoma" EXACT [DOID:4051, NCIT:C7958] -synonym: "rhabdomyosarcoma 2" RELATED [MONDO:Lexical, OMIM:268220] -synonym: "rhabdomyosarcoma 2, alveolar, somatic mutation" EXACT [OMIM:268220, OMIM:genemap2] +synonym: "pediatric alveolar rhabdomyosarcoma" EXACT [] +synonym: "rhabdomyosarcoma 2" RELATED [MONDO:Lexical] +synonym: "rhabdomyosarcoma 2, alveolar, somatic mutation" EXACT [] synonym: "rhabdomyosarcoma alveolar" RELATED [GARD:0004701] -synonym: "rhabdomyosarcoma type 2" EXACT [MONDORULE:1, OMIM:268220] -synonym: "rhabdomyosarcoma, alveolar" RELATED [OMIM:268220] -synonym: "rhabdomyosarcoma, alveolar, somatic mutation" EXACT [OMIM:268220, OMIM:genemap2] -synonym: "RMS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268220] +synonym: "rhabdomyosarcoma type 2" EXACT [MONDORULE:1] +synonym: "rhabdomyosarcoma, alveolar" RELATED [] +synonym: "rhabdomyosarcoma, alveolar, somatic mutation" EXACT [] +synonym: "RMS2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:4051 {source="MONDO:equivalentTo", source="EFO:0000248"} xref: EFO:0000248 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:4701 {source="MONDO:GARD"} @@ -219080,8 +219116,8 @@ property_value: IAO:0000589 "alveolar rhabdomyosarcoma (disease)" xsd:string [Term] id: MONDO:0009995 name: obsolete rheumatic fever-related antigen -synonym: "rheumatic fever, acute, susceptibility to" RELATED [OMIM:268240] -synonym: "rheumatic fever-related antigen" EXACT [OMIM:268240] +synonym: "rheumatic fever, acute, susceptibility to" RELATED [] +synonym: "rheumatic fever-related antigen" EXACT [] xref: OMIM:268240 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:3099 {source="OMIM:268240", source="MONDO:relatedTo"} is_obsolete: true @@ -219099,8 +219135,8 @@ subset: orphanet_rare {source="Orphanet:3098"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial rhizomelic dysplasia" RELATED [GARD:0004705] -synonym: "rhizomelic dysplasia, familial" RELATED [OMIM:268250] -synonym: "rhizomelic syndrome" RELATED [OMIM:268250] +synonym: "rhizomelic dysplasia, familial" RELATED [] +synonym: "rhizomelic syndrome" RELATED [] xref: GARD:4705 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:3098/attributed", source="Orphanet:3098/ntbt", source="Orphanet:3098"} xref: MEDGEN:376574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -219134,10 +219170,10 @@ subset: orphanet_rare {source="Orphanet:3102"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Richieri Costa Pereira syndrome" RELATED [GARD:0004718] -synonym: "Richieri Costa-Pereira syndrome" EXACT CLINGEN_LABEL [] +synonym: "Richieri Costa-Pereira syndrome" EXACT CLINGEN_LABEL [icd11.foundation:107084177, Orphanet:3102] synonym: "Richieri-Costa and Pereira form of acrofacial dysostosis" RELATED [GARD:0004718] -synonym: "Richieri-Costa-Pereira syndrome" RELATED [OMIM:268305] -synonym: "ROBIN sequence with cleft mandible and limb anomalies" RELATED [OMIM:268305] +synonym: "Richieri-Costa-Pereira syndrome" RELATED [] +synonym: "ROBIN sequence with cleft mandible and limb anomalies" RELATED [] synonym: "short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot" RELATED [GARD:0004718] synonym: "short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102] synonym: "short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome" EXACT [Orphanet:3102] @@ -219168,16 +219204,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:1507"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "costovertebral segmentation defect with mesomelia" RELATED [OMIM:268310] -synonym: "costovertebral segmentation defect with mesomelia, formerly" RELATED [OMIM:268310] +synonym: "costovertebral segmentation defect with mesomelia" RELATED [] +synonym: "costovertebral segmentation defect with mesomelia, formerly" RELATED [] synonym: "costovertebral segmentation defect-mesomelia syndrome" EXACT [DOID:0060764, Orphanet:1507] synonym: "COVESDEM syndrome" EXACT [DOID:0060764, Orphanet:1507] -synonym: "Covesdem syndrome" RELATED [OMIM:268310] -synonym: "Covesdem syndrome, formerly" RELATED [OMIM:268310] -synonym: "Robinow syndrome, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:268310] -synonym: "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals" RELATED [OMIM:268310] -synonym: "Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly" RELATED [OMIM:268310] -synonym: "RRS" EXACT ABBREVIATION [DOID:0060764, MONDO:Lexical, OMIM:268310, Orphanet:1507] +synonym: "Covesdem syndrome" RELATED [] +synonym: "Covesdem syndrome, formerly" RELATED [] +synonym: "Robinow syndrome, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive] +synonym: "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals" RELATED [] +synonym: "Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly" RELATED [] +synonym: "RRS" EXACT ABBREVIATION [DOID:0060764, MONDO:Lexical, Orphanet:1507] xref: DOID:0060764 {source="MONDO:equivalentTo"} xref: GARD:16568 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="DOID:0060764", source="Orphanet:1507/attributed", source="Orphanet:1507/ntbt", source="Orphanet:1507"} @@ -219217,9 +219253,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1806"} subset: orphanet_rare {source="Orphanet:1806"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [OMIM:268320] +synonym: "microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [] synonym: "microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities" RELATED [GARD:0000293] -synonym: "RODRIGUES blindness" RELATED [OMIM:268320] +synonym: "RODRIGUES blindness" RELATED [] xref: GARD:2045 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1806/attributed", source="Orphanet:1806/ntbt", source="Orphanet:1806"} xref: MEDGEN:340297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -219243,11 +219279,11 @@ subset: orphanet_rare {source="Orphanet:2909"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital poikiloderma" EXACT [DOID:2732] -synonym: "poikiloderma atrophicans and cataract" RELATED [OMIM:268400] +synonym: "poikiloderma atrophicans and cataract" RELATED [] synonym: "poikiloderma congenitale" RELATED [GARD:0004392] -synonym: "poikiloderma of Rothmund-Thomson" EXACT [Orphanet:2909] -synonym: "Rothmund-Thomson syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:268400] -synonym: "RTS" EXACT ABBREVIATION [DOID:2732, MONDO:Lexical, NCIT:C3335, OMIM:268400, Orphanet:2909] +synonym: "poikiloderma of Rothmund-Thomson" EXACT [icd11.foundation:652761118, Orphanet:2909] +synonym: "Rothmund-Thomson syndrome" EXACT CLINGEN_LABEL [DOID:2732, icd11.foundation:652761118, MONDO:Lexical, NCIT:C3335, OMIMPS:268400, Orphanet:2909] +synonym: "RTS" EXACT ABBREVIATION [DOID:2732, MONDO:Lexical, NCIT:C3335, Orphanet:2909] xref: DOID:2732 {source="MONDO:equivalentTo"} xref: GARD:4392 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:2909/ntbt", source="Orphanet:2909", source="Orphanet:2909/index", source="DOID:2732"} @@ -219279,7 +219315,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010003 name: Rowley-Rosenberg syndrome -synonym: "Growth retardation, pulmonary hypertension, and amino aciduria" RELATED [OMIM:268500] +synonym: "Growth retardation, pulmonary hypertension, and amino aciduria" RELATED [] synonym: "Growth retardation, pulmonary hypertension, and aminoaciduria" RELATED [GARD:0008556] synonym: "Rowley-Rosenberg syndrome" EXACT [OMIM:268500] xref: MEDGEN:120638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -219309,7 +219345,7 @@ synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome" EXACT [Or synonym: "ectrodactyly-ectodermal dysplasia-cleft syndrome" EXACT [NCIT:C148261] synonym: "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome" RELATED [GARD:0002076] synonym: "ectrodactyly-ectodermal dysplasia-clefting syndrome" EXACT [DOID:0060782] -synonym: "RUDIGER syndrome" RELATED [OMIM:268650] +synonym: "RUDIGER syndrome" RELATED [] synonym: "Rudiger syndrome 1" EXACT [DOID:0060782] synonym: "Walker-Clodius syndrome" EXACT [DOID:0060782] xref: DOID:0060782 {source="MONDO:equivalentTo"} @@ -219346,11 +219382,11 @@ subset: ordo_disorder {source="Orphanet:3124"} subset: orphanet_rare {source="Orphanet:3124"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [OMIM:268700] +synonym: "Alpha-aminoadipic semialdehyde synthase deficiency" RELATED [] synonym: "hyperlysinemia type II" EXACT [Orphanet:3124] -synonym: "hyperlysinemia, type 2" RELATED [OMIM:268700] +synonym: "hyperlysinemia, type 2" RELATED [] synonym: "saccharopine dehydrogenase deficiency" EXACT [OMIM:268700, Orphanet:3124] -synonym: "saccharopinuria" EXACT [OMIM:268700] +synonym: "saccharopinuria" EXACT [OMIM:268700, Orphanet:3124] xref: GARD:314 {source="MONDO:GARD"} xref: ICD10CM:E72.3 {source="Orphanet:3124/attributed", source="Orphanet:3124/ntbt", source="Orphanet:3124"} xref: ICD9:270.7 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -219375,18 +219411,18 @@ subset: orphanet_rare {source="Orphanet:796"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Beta-hexosaminidase-beta-subunit deficiency" RELATED [GARD:0007604] -synonym: "GM2 gangliosidosis 0 variant" EXACT [Orphanet:796] +synonym: "GM2 gangliosidosis 0 variant" EXACT [icd11.foundation:708581915] synonym: "GM2 gangliosidosis, 0 variant" RELATED [GARD:0002521] synonym: "GM2 gangliosidosis, type 2" RELATED [GARD:0007604] -synonym: "GM2-gangliosidosis, type 2" RELATED [OMIM:268800] +synonym: "GM2-gangliosidosis, type 2" RELATED [] synonym: "hexosaminidase A and B deficiency disease" RELATED [GARD:0007604] -synonym: "Hexosaminidases A and B deficiency" EXACT [Orphanet:796] -synonym: "Hexosaminidases a and B deficiency" RELATED [OMIM:268800] -synonym: "Sandhoff disease" EXACT CLINGEN_LABEL [OMIM:268800] -synonym: "Sandhoff disease, adult type" RELATED [OMIM:268800] -synonym: "Sandhoff disease, infantile type" RELATED [OMIM:268800] -synonym: "Sandhoff disease, infantile, juvenile, and adult forms" EXACT [OMIM:268800, OMIM:genemap2] -synonym: "Sandhoff disease, juvenile type" RELATED [OMIM:268800] +synonym: "Hexosaminidases A and B deficiency" EXACT [OMIM:268800] +synonym: "Hexosaminidases a and B deficiency" RELATED [] +synonym: "Sandhoff disease" EXACT CLINGEN_LABEL [DOID:3323, ICD10CM:E75.01, icd11.foundation:708581915, NCIT:C85052, OMIM:268800, Orphanet:796] +synonym: "Sandhoff disease, adult type" RELATED [] +synonym: "Sandhoff disease, infantile type" RELATED [] +synonym: "Sandhoff disease, infantile, juvenile, and adult forms" EXACT [] +synonym: "Sandhoff disease, juvenile type" RELATED [] synonym: "Sandhoff Jatzkewitz disease" EXACT [DOID:3323] synonym: "Sandhoff-Jatzkewitz-Pilz disease" RELATED [GARD:0007604] synonym: "total hexosaminidase deficiency" RELATED [GARD:0007604] @@ -219430,10 +219466,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "microbrachycephaly ptosis cleft lip" RELATED [GARD:0003596] synonym: "Richieri Costa-Guion Almeida-Ramos syndrome" EXACT [Orphanet:2511] -synonym: "Richieri-COSTA/Guion-Almeida syndrome" RELATED [OMIM:268850] -synonym: "sao Paulo MCA/Mr syndrome" RELATED [OMIM:268850] -synonym: "short stature, intellectual disability, eye anomalies, and cleft Lip/palate" RELATED [OMIM:268850] -synonym: "short stature, mental retardation, eye anomalies, and cleft Lip/palate" RELATED DEPRECATED [OMIM:268850] +synonym: "Richieri-COSTA/Guion-Almeida syndrome" RELATED [] +synonym: "sao Paulo MCA/Mr syndrome" RELATED [] +synonym: "short stature, intellectual disability, eye anomalies, and cleft Lip/palate" RELATED [] +synonym: "short stature, mental retardation, eye anomalies, and cleft Lip/palate" RELATED DEPRECATED [] xref: GARD:3596 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2511/attributed", source="Orphanet:2511/ntbt", source="Orphanet:2511"} xref: MEDGEN:162914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -219456,12 +219492,12 @@ subset: ordo_disorder {source="Orphanet:3129"} subset: orphanet_rare {source="Orphanet:3129"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypersarcosinemia" RELATED [OMIM:268900] -synonym: "SARCOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268900] -synonym: "sarcosine dehydrogenase complex deficiency" RELATED [OMIM:268900, Orphanet:3129] -synonym: "sarcosinemia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:268900, OMIM:genemap2] -synonym: "SARD deficiency" RELATED [OMIM:268900] -synonym: "SARDH deficiency" RELATED [OMIM:268900] +synonym: "hypersarcosinemia" RELATED [] +synonym: "SARCOS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "sarcosine dehydrogenase complex deficiency" RELATED [] +synonym: "sarcosinemia" EXACT CLINGEN_LABEL [DOID:0112307, MONDO:Lexical, OMIM:268900, Orphanet:3129] +synonym: "SARD deficiency" RELATED [] +synonym: "SARDH deficiency" RELATED [] xref: DOID:0112307 {source="MONDO:equivalentTo"} xref: GARD:158 {source="MONDO:GARD"} xref: ICD10CM:E72.5 {source="Orphanet:3129/inclusion", source="Orphanet:3129", source="Orphanet:3129/ntbt"} @@ -219507,13 +219543,13 @@ subset: orphanet_rare {source="Orphanet:798"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Schinzel Giedion midface-retraction syndrome" RELATED [GARD:0000117] -synonym: "Schinzel Giedion Syndrome" EXACT [NORD:1694] +synonym: "Schinzel Giedion Syndrome" EXACT [DOID:0070509, NORD:1694] synonym: "Schinzel Giedion syndrome" RELATED [GARD:0000117] -synonym: "Schinzel-Giedion midface retraction syndrome" RELATED [OMIM:269150] +synonym: "Schinzel-Giedion midface retraction syndrome" RELATED [] synonym: "Schinzel-Giedion midface-retraction syndrome" EXACT [NCIT:C129308] -synonym: "Schinzel-Giedion syndrome" EXACT CLINGEN_LABEL [GARD:0000117] -synonym: "SGS" EXACT ABBREVIATION [Orphanet:798] -synonym: "Sgs" RELATED [OMIM:269150] +synonym: "Schinzel-Giedion syndrome" EXACT CLINGEN_LABEL [GARD:0000117, icd11.foundation:1542318431, NCIT:C129308, Orphanet:798] +synonym: "SGS" EXACT ABBREVIATION [DOID:0070509, OMIM:269150, Orphanet:798] +synonym: "Sgs" RELATED [] xref: DOID:0070509 {source="MONDO:equivalentTo"} xref: GARD:117 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:798/attributed", source="Orphanet:798/ntbt", source="Orphanet:798"} @@ -219546,7 +219582,7 @@ subset: ordo_disorder {source="Orphanet:799"} subset: orphanet_rare {source="Orphanet:799"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "schizencephaly" EXACT CLINGEN_LABEL [OMIM:269160] +synonym: "schizencephaly" EXACT CLINGEN_LABEL [icd11.foundation:1693546163, NCIT:C99056, OMIM:269160, Orphanet:799] xref: GARD:166 {source="MONDO:GARD"} xref: ICD10CM:Q04.6 {source="Orphanet:799/inclusion", source="Orphanet:799", source="Orphanet:799/ntbt"} xref: icd11.foundation:1693546163 {source="Orphanet:799", source="MONDO:equivalentTo"} @@ -219572,22 +219608,22 @@ subset: nord_rare {source="NORD:824", source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:3143"} subset: orphanet_rare {source="Orphanet:3143"} subset: rare -synonym: "APS 2" RELATED [OMIM:269200] +synonym: "APS 2" RELATED [] synonym: "APS type 2" EXACT [Orphanet:3143] -synonym: "APS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:269200, Orphanet:3143] -synonym: "autoimmune polyendocrine syndrome type 2" EXACT [MONDO:0000272, Orphanet:3143] +synonym: "APS2" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C129728, OMIM:269200, Orphanet:3143] +synonym: "autoimmune polyendocrine syndrome type 2" EXACT [DOID:0050168, icd11.foundation:1065249344, MONDO:0000272, Orphanet:3143] synonym: "Autoimmune Polyendocrine Syndrome Type II" EXACT [NORD:824] -synonym: "autoimmune polyendocrine syndrome, type II" RELATED [MONDO:Lexical, OMIM:269200] -synonym: "autoimmune polyglandular syndrome type 2" EXACT [Orphanet:3143] +synonym: "autoimmune polyendocrine syndrome, type II" RELATED [MONDO:Lexical] +synonym: "autoimmune polyglandular syndrome type 2" EXACT [icd11.foundation:1065249344, NCIT:C129728, Orphanet:3143] synonym: "autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome" EXACT [Orphanet:3143] -synonym: "diabetes mellitus, Addison disease, myxedema" RELATED [OMIM:269200] +synonym: "diabetes mellitus, Addison disease, myxedema" RELATED [] synonym: "diabetes mellitus, Addison's disease, myxedema" RELATED [GARD:0007611] synonym: "multiple endocrine deficiency syndrome, type 2" RELATED [GARD:0007611] -synonym: "PGA 2" RELATED [OMIM:269200] -synonym: "polyendocrine autoimmune syndrome, type 2" RELATED [OMIM:269200] -synonym: "polyglandular autoimmune syndrome, type 2" RELATED [OMIM:269200] +synonym: "PGA 2" RELATED [] +synonym: "polyendocrine autoimmune syndrome, type 2" RELATED [] +synonym: "polyglandular autoimmune syndrome, type 2" RELATED [] synonym: "polyglandular deficiency syndrome type 2" RELATED [GARD:0007611] -synonym: "Schmidt syndrome" EXACT [DOID:0050168, OMIM:269200, Orphanet:3143] +synonym: "Schmidt syndrome" EXACT [DOID:0050168, icd11.foundation:1065249344, NCIT:C129728, OMIM:269200, Orphanet:3143] synonym: "Schmidt's syndrome" RELATED [GARD:0007611] xref: DOID:0050168 {source="MONDO:equivalentTo"} xref: GARD:7611 {source="MONDO:GARD"} @@ -219619,10 +219655,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chondrodysplasia lethal neonatal with snail like pelvis" RELATED [GARD:0000169] synonym: "chondrodysplasia with snail-like pelvis" EXACT [Orphanet:3144] -synonym: "chondrodysplasia, lethal neonatal, with snail-like pelvis" RELATED [OMIM:269250] -synonym: "schneckenbecken dysplasia" EXACT CLINGEN_LABEL [OMIM:269250] -synonym: "SHNKND" RELATED ABBREVIATION [OMIM:269250] -synonym: "SLC35D1-CDG" EXACT [Orphanet:3144] +synonym: "chondrodysplasia, lethal neonatal, with snail-like pelvis" RELATED [] +synonym: "schneckenbecken dysplasia" EXACT CLINGEN_LABEL [DOID:0050775, icd11.foundation:584032448, OMIM:269250, Orphanet:3144] +synonym: "SHNKND" RELATED ABBREVIATION [] +synonym: "SLC35D1-CDG" EXACT [icd11.foundation:584032448, Orphanet:3144] xref: DOID:0050775 {source="MONDO:equivalentTo"} xref: GARD:169 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:3144", source="Orphanet:3144/attributed", source="Orphanet:3144/ntbt"} @@ -219655,9 +219691,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:85184"} subset: orphanet_rare {source="Orphanet:85184"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CRANIOMETADIAPHYSEAL dysplasia" RELATED [MONDO:Lexical, OMIM:269300] -synonym: "CRMDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269300] -synonym: "Schwartz-Lelek syndrome" EXACT [OMIM:269300] +synonym: "CRANIOMETADIAPHYSEAL dysplasia" RELATED [MONDO:Lexical] +synonym: "CRMDD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Schwartz-Lelek syndrome" EXACT [] xref: GARD:16737 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:85184/attributed", source="Orphanet:85184/ntbt", source="Orphanet:85184"} xref: icd11.foundation:1055011248 {source="MONDO:equivalentTo"} @@ -219683,20 +219719,20 @@ subset: ordo_malformation_syndrome {source="Orphanet:289499"} subset: orphanet_rare {source="Orphanet:289499"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anterior segment dysgenesis 7" EXACT [OMIM:269400] -synonym: "anterior segment dysgenesis 7, with sclerocornea" EXACT [OMIM:269400, OMIM:genemap2] +synonym: "anterior segment dysgenesis 7" EXACT [DOID:0080612, OMIM:269400] +synonym: "anterior segment dysgenesis 7, with sclerocornea" EXACT [] synonym: "anterior segment dysgenesis caused by mutation in PXDN" EXACT [MONDO:design_pattern] -synonym: "ASGD7" RELATED ABBREVIATION [OMIM:269400] +synonym: "ASGD7" RELATED ABBREVIATION [] synonym: "CCMCO" EXACT ABBREVIATION [Orphanet:289499] -synonym: "congenital cataract microcornea with corneal opacity" RELATED [Orphanet:289499] -synonym: "COPOA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269400] -synonym: "corneal opacification and other ocular anomalies" RELATED [DOID:0060648] -synonym: "corneal opacification with Other ocular anomalies" RELATED [OMIM:269400] -synonym: "corneal opacification with other ocular anomalies" RELATED [MONDO:Lexical, OMIM:269400] +synonym: "congenital cataract microcornea with corneal opacity" RELATED [] +synonym: "COPOA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "corneal opacification and other ocular anomalies" RELATED [] +synonym: "corneal opacification with Other ocular anomalies" RELATED [] +synonym: "corneal opacification with other ocular anomalies" RELATED [MONDO:Lexical] synonym: "PXDN anterior segment dysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PXDN-related ocular dysgenesis" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40077/] -synonym: "sclerocornea with Other ocular anomalies" RELATED [OMIM:269400] -synonym: "sclerocornea with other ocular anomalies" EXACT [DOID:0060648] +synonym: "sclerocornea with Other ocular anomalies" RELATED [] +synonym: "sclerocornea with other ocular anomalies" EXACT [OMIM:269400] xref: DOID:0080612 {source="MONDO:equivalentTo"} xref: GARD:17327 {source="MONDO:GARD"} xref: MEDGEN:462967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -219719,11 +219755,11 @@ def: "Any sclerosteosis in which the cause of the disease is a mutation in the S subset: gard_rare {source="GARD:15233", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cortical hyperostosis with syndactyly" RELATED [OMIM:269500] -synonym: "sclerosteosis 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:269500] +synonym: "cortical hyperostosis with syndactyly" RELATED [] +synonym: "sclerosteosis 1" EXACT CLINGEN_LABEL [DOID:0060756, MONDO:Lexical, OMIM:269500] synonym: "sclerosteosis caused by mutation in SOST" EXACT [MONDO:design_pattern] -synonym: "sclerosteosis type 1" EXACT [DOID:0060756, MONDORULE:1, OMIM:269500] -synonym: "SOST" RELATED ABBREVIATION [OMIM:269500] +synonym: "sclerosteosis type 1" EXACT [MONDORULE:1] +synonym: "SOST" RELATED ABBREVIATION [] synonym: "SOST sclerosteosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SOST1" EXACT ABBREVIATION [DOID:0060756, MONDO:Lexical, OMIM:269500] xref: DOID:0060756 {source="MONDO:equivalentTo"} @@ -219749,10 +219785,10 @@ subset: ordo_disorder {source="Orphanet:158029"} subset: orphanet_rare {source="Orphanet:158029"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "histiocytosis, Sea-blue" RELATED [OMIM:269600] +synonym: "histiocytosis, Sea-blue" RELATED [] synonym: "inherited Lipemic splenomegaly" RELATED [GARD:0008241] -synonym: "SEA-blue histiocyte disease" RELATED [OMIM:269600] -synonym: "sea-blue histiocytosis" RELATED [OMIM:269600] +synonym: "SEA-blue histiocyte disease" RELATED [] +synonym: "sea-blue histiocytosis" RELATED [] xref: DOID:4423 {source="MONDO:equivalentTo", source="EFO:1001170"} xref: GARD:8241 {source="MONDO:GARD"} xref: ICD10CM:D76.3 {source="Orphanet:158029/attributed", source="Orphanet:158029/ntbt", source="Orphanet:158029"} @@ -219785,7 +219821,7 @@ name: secretory component deficiency subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "IgA deficiency, secretory" RELATED [OMIM:269650] +synonym: "IgA deficiency, secretory" RELATED [] synonym: "secretory component deficiency" EXACT [OMIM:269650] xref: ICD9:279.03 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:140769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -219805,12 +219841,12 @@ subset: gard_rare {source="GARD:10212", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Berardinelli Seip congenital lipodystrophy type 2" RELATED [GARD:0010212] -synonym: "Berardinelli syndrome" RELATED [OMIM:269700] +synonym: "Berardinelli syndrome" RELATED [] synonym: "Berardinelli-Seip congenital lipodystrophy type 2" EXACT [DOID:0111136] -synonym: "Berardinelli-Seip congenital lipodystrophy, type 2" RELATED [OMIM:269700] +synonym: "Berardinelli-Seip congenital lipodystrophy, type 2" RELATED [] synonym: "Berardinelli-Seip syndrome" EXACT [DOID:0111136] synonym: "Brunzell syndrome BSCL2-related" EXACT [DOID:0111136] -synonym: "Brunzell syndrome, BSCL2-related" RELATED [OMIM:269700] +synonym: "Brunzell syndrome, BSCL2-related" RELATED [] synonym: "BSCL2 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] synonym: "BSCL2 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "BSCL2-related Brunzell syndrome" RELATED [GARD:0010212] @@ -219818,11 +219854,11 @@ synonym: "CGL2" EXACT ABBREVIATION [DOID:0111136, MONDO:Lexical, OMIM:269700] synonym: "congenital generalised lipodystrophy (disease) caused by mutation in BSCL2" EXACT OMO:0003005 [] synonym: "congenital generalized lipodystrophy (disease) caused by mutation in BSCL2" EXACT [] synonym: "congenital lipoatrophic diabetes" EXACT [DOID:0111136] -synonym: "lipoatrophic diabetes, congenital" RELATED [OMIM:269700] -synonym: "lipodystrophy, Berardinelli-Seip congenital, type 2" RELATED [OMIM:269700] -synonym: "lipodystrophy, congenital generalized, type 2" RELATED [MONDO:Lexical, OMIM:269700] -synonym: "lipodystrophy, total, and acromegaloid gigantism" RELATED [OMIM:269700] -synonym: "Seip syndrome" RELATED [OMIM:269700] +synonym: "lipoatrophic diabetes, congenital" RELATED [] +synonym: "lipodystrophy, Berardinelli-Seip congenital, type 2" RELATED [] +synonym: "lipodystrophy, congenital generalized, type 2" RELATED [MONDO:Lexical] +synonym: "lipodystrophy, total, and acromegaloid gigantism" RELATED [] +synonym: "Seip syndrome" RELATED [] synonym: "total lipodystrophy and acromegaloid gigantism" EXACT [DOID:0111136] xref: DOID:0111136 {source="MONDO:equivalentTo"} xref: GARD:10212 {source="MONDO:GARD"} @@ -219845,10 +219881,10 @@ subset: gard_rare {source="GARD:15234", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant form of benign neonatal seizures" RELATED [GARD:0001519] -synonym: "Bfns, autosomal recessive" RELATED [OMIM:269720] +synonym: "Bfns, autosomal recessive" RELATED [] synonym: "convulsions benign familial neonatal dominant form" RELATED [GARD:0001519] -synonym: "convulsions, benign familial neonatal, autosomal recessive" RELATED [OMIM:269720] -synonym: "epilepsy, benign familial neonatal, autosomal recessive" RELATED [OMIM:269720] +synonym: "convulsions, benign familial neonatal, autosomal recessive" RELATED [] +synonym: "epilepsy, benign familial neonatal, autosomal recessive" RELATED [] synonym: "seizures, benign familial neonatal, autosomal recessive" EXACT [OMIM:269720] xref: GARD:15234 {source="MONDO:GARD"} xref: MEDGEN:338640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -219878,13 +219914,13 @@ subset: ordo_disorder {source="Orphanet:911"} subset: orphanet_rare {source="Orphanet:911"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD48" RELATED ABBREVIATION [OMIM:269840] -synonym: "immunodeficiency 48" RELATED [OMIM:269840] -synonym: "selective T-cell defect" RELATED [MONDO:Lexical, OMIM:269840] +synonym: "IMD48" RELATED ABBREVIATION [] +synonym: "immunodeficiency 48" RELATED [] +synonym: "selective T-cell defect" RELATED [MONDO:Lexical] synonym: "severe combined immunodeficiency due to ZAP70 deficiency" RELATED [GARD:0000387] -synonym: "STCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269840] +synonym: "STCD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ZAP-70 deficiency" RELATED [GARD:0000387] -synonym: "zeta-associated-protein 70 deficiency" EXACT [Orphanet:911] +synonym: "zeta-associated-protein 70 deficiency" EXACT [DOID:0111943, icd11.foundation:1718367094, Orphanet:911] xref: DOID:0111943 {source="MONDO:equivalentTo"} xref: GARD:387 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:911/attributed", source="Orphanet:911/ntbt", source="Orphanet:911"} @@ -219915,18 +219951,18 @@ subset: orphanet_rare {source="Orphanet:93268"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Beemer Langer syndrome" RELATED [GARD:0004832] -synonym: "Beemer-Langer syndrome" EXACT [OMIM:269860] +synonym: "Beemer-Langer syndrome" EXACT [DOID:9249, OMIM:269860] synonym: "short rib polydactyly syndrome Beemer-Langer type" RELATED [GARD:0004832] -synonym: "short rib syndrome, Beemer type" RELATED [OMIM:269860] +synonym: "short rib syndrome, Beemer type" RELATED [] synonym: "short rib-polydactyly syndrome Beemer type" RELATED [GARD:0004832] synonym: "short rib-polydactyly syndrome type 4" EXACT [Orphanet:93268] synonym: "short rib-polydactyly syndrome type IV" RELATED [GARD:0004832] -synonym: "short rib-polydactyly syndrome, Beemer-Langer type" RELATED [Orphanet:93268] -synonym: "short rib-polydactyly syndrome, type 4" RELATED [OMIM:269860] -synonym: "short-rib thoracic dysplasia 12" RELATED [MONDO:Lexical, OMIM:269860] -synonym: "Srps 4" RELATED [OMIM:269860] +synonym: "short rib-polydactyly syndrome, Beemer-Langer type" RELATED [] +synonym: "short rib-polydactyly syndrome, type 4" RELATED [] +synonym: "short-rib thoracic dysplasia 12" RELATED [MONDO:Lexical] +synonym: "Srps 4" RELATED [] synonym: "SRPS type 4" RELATED [GARD:0004832] -synonym: "SRTD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269860] +synonym: "SRTD12" RELATED ABBREVIATION [MONDO:Lexical] synonym: "type IV short rib polydactyly syndrome" EXACT [DOID:9249] xref: DOID:9249 {source="MONDO:equivalentTo"} xref: GARD:4832 {source="MONDO:GARD"} @@ -219950,7 +219986,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010025 name: short stature-obesity syndrome synonym: "short stature-obesity syndrome" EXACT [MONDO:Lexical, OMIM:269870] -synonym: "SSOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:269870] +synonym: "SSOS" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:341410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564821 {source="MONDO:equivalentTo"} xref: OMIM:269870 {source="MONDO:equivalentTo"} @@ -219969,15 +220005,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:3163"} subset: orphanet_rare {source="Orphanet:3163"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Aarskog-Ose-Pande syndrome" EXACT [Orphanet:3163] -synonym: "lipodystrophy, partial, with Rieger anomaly and short stature" RELATED [OMIM:269880] -synonym: "lipodystrophy-Rieger anomaly-diabetes syndrome" EXACT [Orphanet:3163] +synonym: "Aarskog-Ose-Pande syndrome" EXACT [DOID:0111454, icd11.foundation:1264512044] +synonym: "lipodystrophy, partial, with Rieger anomaly and short stature" RELATED [] +synonym: "lipodystrophy-Rieger anomaly-diabetes syndrome" EXACT [DOID:0111454, Orphanet:3163] synonym: "partial lipodystrophy with Rieger anomaly and short stature" RELATED [GARD:0007633] -synonym: "Rieger anomaly-partial lipodystrophy syndrome" EXACT [Orphanet:3163] +synonym: "Rieger anomaly-partial lipodystrophy syndrome" EXACT [DOID:0111454, Orphanet:3163] synonym: "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay" RELATED [GARD:0007633] -synonym: "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" RELATED [OMIM:269880] -synonym: "SHORT syndrome" EXACT CLINGEN_LABEL [] -synonym: "short syndrome" EXACT [OMIM:269880] +synonym: "short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay" RELATED [] +synonym: "SHORT syndrome" EXACT CLINGEN_LABEL [DOID:0111454, icd11.foundation:1264512044, OMIM:269880, Orphanet:3163] +synonym: "short syndrome" EXACT [DOID:0111454, icd11.foundation:1264512044, OMIM:269880, Orphanet:3163] xref: DOID:0111454 {source="MONDO:equivalentTo"} xref: GARD:7633 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:3163/attributed", source="Orphanet:3163/ntbt", source="Orphanet:3163"} @@ -220010,13 +220046,13 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:309324"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "infantile free sialic acid storage disease" RELATED [GARD:0000175] -synonym: "infantile sialic acid storage disease" RELATED [MONDO:Lexical, OMIM:269920] +synonym: "infantile sialic acid storage disease" RELATED [MONDO:Lexical] synonym: "infantile sialic acid storage disorder" RELATED [GARD:0000175] synonym: "ISSD" EXACT ABBREVIATION [GARD:0000175, MONDO:Lexical, OMIM:269920, Orphanet:309324] -synonym: "N-acetylneuraminic acid storage disease" RELATED [OMIM:269920] -synonym: "Nana storage disease" RELATED [OMIM:269920] -synonym: "sialic acid storage disorder, infantile" EXACT [OMIM:269920, OMIM:genemap2] -synonym: "sialuria, infantile form" RELATED [GARD:0000175, OMIM:269920] +synonym: "N-acetylneuraminic acid storage disease" RELATED [] +synonym: "Nana storage disease" RELATED [] +synonym: "sialic acid storage disorder, infantile" EXACT [] +synonym: "sialuria, infantile form" RELATED [GARD:0000175] xref: GARD:175 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:309324", source="Orphanet:309324/attributed", source="Orphanet:309324/ntbt"} xref: MedDRA:10067532 {source="Orphanet:309324/e", source="Orphanet:309324"} @@ -220048,7 +220084,7 @@ subset: ordo_disorder {source="Orphanet:3166"} subset: orphanet_rare {source="Orphanet:3166"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "sialuria" EXACT [OMIM:269921] +synonym: "sialuria" EXACT [DOID:3659, icd11.foundation:154329034, OMIM:269921, Orphanet:3166] synonym: "sialuria, French type" EXACT [OMIM:269921, Orphanet:3166] xref: DOID:3659 {source="MONDO:equivalentTo"} xref: GARD:4865 {source="MONDO:GARD"} @@ -220081,12 +220117,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "complete situs inversus" EXACT [Orphanet:101063] synonym: "complete situs inversus viscerum" EXACT [Orphanet:101063] -synonym: "complete transposition" RELATED EXCLUDE [DOID:758] -synonym: "complete transposition (morphologic abnormality)" EXACT [DOID:758] +synonym: "complete transposition" RELATED EXCLUDE [] +synonym: "complete transposition (morphologic abnormality)" EXACT [] synonym: "laterality sequence" EXACT [DOID:758] -synonym: "situs ambiguus" RELATED [NCIT:C87121] -synonym: "situs inversus" EXACT [Orphanet:101063] -synonym: "situs inversus totalis" EXACT [MONDO:ambiguous] +synonym: "situs ambiguus" RELATED [] +synonym: "situs inversus" EXACT [DOID:758, ICD10CM:Q89.3, icd11.foundation:797648408, NCIT:C87121, Orphanet:101063] +synonym: "situs inversus totalis" EXACT [icd11.foundation:797648408, MONDO:ambiguous, Orphanet:101063] synonym: "situs inversus totalis (disease)" EXACT [MONDO:0015098] xref: DOID:758 {source="MONDO:equivalentTo"} xref: GARD:4883 {source="MONDO:GARD"} @@ -220124,15 +220160,15 @@ subset: ordo_disorder {source="Orphanet:289390"} subset: orphanet_rare {source="Orphanet:289390"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "primary Sjogren-Gougerot syndrome" EXACT [Orphanet:289390] -synonym: "primary Sjögren syndrome" RELATED [Orphanet:289390] +synonym: "primary Sjogren-Gougerot syndrome" EXACT [] +synonym: "primary Sjögren syndrome" RELATED [] synonym: "primary Sjögren-Gougerot syndrome" EXACT [Orphanet:289390] -synonym: "sicca syndrome" EXACT [DOID:12894, ICD9CM:710.2, OMIM:270150, Orphanet:378] -synonym: "Sjogren syndrome" EXACT [DOID:12894, OMIM:270150] -synonym: "Sjogren's syndrome" RELATED [DOID:12894] +synonym: "sicca syndrome" EXACT [DOID:12894, ICD9CM:710.2, OMIM:270150] +synonym: "Sjogren syndrome" EXACT [DOID:12894, NCIT:C26883, OMIM:270150] +synonym: "Sjogren's syndrome" RELATED [] synonym: "Sjögren syndrome" EXACT [NCIT:C26883] -synonym: "Sjögren-Gougerot syndrome" EXACT [Orphanet:378] -synonym: "syndrome, Sjogren's" EXACT [NCIT:C26883] +synonym: "Sjögren-Gougerot syndrome" EXACT [] +synonym: "syndrome, Sjogren's" EXACT [] synonym: "xerodermosteosis" EXACT [DOID:12894] xref: DOID:12894 {source="MONDO:equivalentTo", source="EFO:0000699"} xref: EFO:0000699 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -220178,18 +220214,18 @@ subset: orphanet_rare {source="Orphanet:816"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FADH deficiency" RELATED [GARD:0007654] -synonym: "FALDH deficiency" RELATED [OMIM:270200] +synonym: "FALDH deficiency" RELATED [] synonym: "FAO deficiency" RELATED [GARD:0007654] -synonym: "fatty acid alcohol oxidoreductase deficiency" EXACT [Orphanet:816] -synonym: "fatty alcohol:NAD+ oxidoreductase deficiency" RELATED [OMIM:270200] -synonym: "fatty aldehyde dehydrogenase deficiency" RELATED [OMIM:270200] -synonym: "ichthyosis, spastic neurologic disorder, and oligophrenia" RELATED [OMIM:270200] +synonym: "fatty acid alcohol oxidoreductase deficiency" EXACT [DOID:14501, icd11.foundation:418359090, Orphanet:816] +synonym: "fatty alcohol:NAD+ oxidoreductase deficiency" RELATED [] +synonym: "fatty aldehyde dehydrogenase deficiency" RELATED [] +synonym: "ichthyosis, spastic neurologic disorder, and oligophrenia" RELATED [] synonym: "Senior-Løken Syndrome" EXACT [NORD:1377] synonym: "Sjogren Larsson syndrome" EXACT [DOID:14501] -synonym: "Sjogren-Larsson syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:270200] +synonym: "Sjogren-Larsson syndrome" EXACT CLINGEN_LABEL [DOID:14501, MONDO:Lexical, NCIT:C85070, OMIM:270200] synonym: "Sjogren-Larsson's syndrome" EXACT [DOID:14501] synonym: "Sjögren-Larsson syndrome" RELATED [GARD:0007654] -synonym: "SLS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:270200] +synonym: "SLS" EXACT ABBREVIATION [DOID:14501, MONDO:Lexical, OMIM:270200] xref: DOID:14501 {source="MONDO:equivalentTo"} xref: GARD:7654 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:816", source="Orphanet:816/index", source="Orphanet:816/e"} @@ -220220,7 +220256,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7654/sjogren [Term] id: MONDO:0010032 name: Sjogren-Larsson-like ichthyosis without CNS or eye involvement -synonym: "ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement" RELATED [OMIM:270220] +synonym: "ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement" RELATED [] synonym: "Sjogren-Larsson-like ichthyosis without CNS or eye involvement" EXACT [OMIM:270220] synonym: "Sjogren-Larsson-like syndrome" RELATED [GARD:0004885] xref: MEDGEN:336532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -220244,9 +220280,9 @@ synonym: "generalised deciduous skin" EXACT OMO:0003005 [] synonym: "generalised PSS" EXACT OMO:0003005 [] synonym: "generalized deciduous skin" EXACT [Orphanet:263543] synonym: "generalized PSS" EXACT [Orphanet:263543] -synonym: "peeling skin syndrome 1" RELATED [MONDO:Lexical, OMIM:270300] -synonym: "peeling skin syndrome type 1" EXACT [MONDORULE:1, OMIM:270300] -synonym: "PSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:270300] +synonym: "peeling skin syndrome 1" RELATED [MONDO:Lexical] +synonym: "peeling skin syndrome type 1" EXACT [MONDORULE:1] +synonym: "PSS1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:12862 {source="MONDO:GARD"} xref: ICD10CM:Q80.8 {source="Orphanet:263543", source="Orphanet:263543/attributed", source="Orphanet:263543/ntbt"} xref: MEDGEN:930825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -220259,8 +220295,8 @@ is_a: MONDO:0019347 {source="DC-OMIM:270300", source="OMIM:270300", source="Orph [Term] id: MONDO:0010034 name: obsolete anosmia for butyl mercaptan -synonym: "skunk N-butyl mercaptan, inability to smell" RELATED [OMIM:270350] -synonym: "skunk N-BUTYLMERCAPTAN, inability to smell" RELATED [OMIM:270350] +synonym: "skunk N-butyl mercaptan, inability to smell" RELATED [] +synonym: "skunk N-BUTYLMERCAPTAN, inability to smell" RELATED [] xref: OMIM:270350 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4698" xsd:anyURI @@ -220279,16 +220315,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:818"} subset: orphanet_rare {source="Orphanet:818"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "7-dehydrocholesterol reductase deficiency" EXACT [Orphanet:818] -synonym: "lethal acrodysgenital syndrome" RELATED [OMIM:270400] -synonym: "polydactyly, sex reversal, renal hypoplasia, and unilobar lung" RELATED [OMIM:270400] +synonym: "7-dehydrocholesterol reductase deficiency" EXACT [icd11.foundation:1231469858, Orphanet:818] +synonym: "lethal acrodysgenital syndrome" RELATED [] +synonym: "polydactyly, sex reversal, renal hypoplasia, and unilobar lung" RELATED [] synonym: "polydactyly, sex reversal, renal hypoplasia, and unilobular lung" RELATED [GARD:0005683] synonym: "RSH syndrome" EXACT [OMIM:270400, Orphanet:818] synonym: "Rutledge lethal multiple congenital anomaly syndrome" EXACT [DOID:14692, OMIM:270400] synonym: "SLO syndrome" EXACT [OMIM:270400] synonym: "SLOS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:270400, Orphanet:818] synonym: "Smith Lemli Opitz syndrome" RELATED [GARD:0005683] -synonym: "Smith-Lemli-Opitz syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:270400] +synonym: "Smith-Lemli-Opitz syndrome" EXACT CLINGEN_LABEL [DOID:14692, ICD10CM:E78.72, icd11.foundation:1231469858, MONDO:Lexical, NCIT:C85071, OMIM:270400, Orphanet:818] synonym: "Smith-Opitz-inborn syndrome" EXACT [DOID:14692] xref: DOID:14692 {source="MONDO:equivalentTo"} xref: GARD:5683 {source="MONDO:GARD"} @@ -220326,18 +220362,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "congenital secretory sodium diarrhea 3 syndromic" EXACT [DOID:0060781] synonym: "congenital secretory sodium diarrhea 3 with or without other congenital anomalies" EXACT [DOID:0060781] -synonym: "congenital secretory sodium diarrhea type 3" EXACT [DOID:0060781, MONDORULE:1] -synonym: "congenital secretory sodium diarrhoea 3 syndromic" EXACT OMO:0003005 [] -synonym: "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies" EXACT OMO:0003005 [] +synonym: "congenital secretory sodium diarrhea type 3" EXACT [MONDORULE:1] +synonym: "congenital secretory sodium diarrhoea 3 syndromic" EXACT OMO:0003005 [DOID:0060781] +synonym: "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies" EXACT OMO:0003005 [DOID:0060781] synonym: "congenital secretory sodium diarrhoea type 3" EXACT OMO:0003005 [] -synonym: "DIAR3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:270420] -synonym: "diarrhea 3, secretory sodium, congenital, syndromic" RELATED [OMIM:270420] -synonym: "diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies" RELATED [MONDO:Lexical, OMIM:270420] +synonym: "DIAR3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "diarrhea 3, secretory sodium, congenital, syndromic" RELATED [] +synonym: "diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies" RELATED [MONDO:Lexical] synonym: "diarrhoea 3, secretory sodium, congenital, syndromic" RELATED OMO:0003005 [] synonym: "diarrhoea 3, secretory sodium, congenital, with or without other congenital anomalies" RELATED OMO:0003005 [] synonym: "secretory diarrhea caused by mutation in SPINT2" EXACT [MONDO:design_pattern] synonym: "secretory diarrhoea caused by mutation in SPINT2" EXACT OMO:0003005 [] -synonym: "sodium diarrhea, congenital" RELATED [OMIM:270420] +synonym: "sodium diarrhea, congenital" RELATED [] synonym: "SPINT2 secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SPINT2 secretory diarrhoea" EXACT OMO:0003005 [] xref: DOID:0060781 {source="MONDO:equivalentTo"} @@ -220358,7 +220394,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0010037 name: sodium-potassium-ATPase activity of red cell -synonym: "sodium pump sites, number of" RELATED [OMIM:270425] +synonym: "sodium pump sites, number of" RELATED [] synonym: "sodium-potassium-ATPase activity of red cell" EXACT [OMIM:270425] xref: MEDGEN:376532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:270425 {source="MONDO:equivalentTo"} @@ -220375,18 +220411,18 @@ subset: ordo_disorder {source="Orphanet:73273"} subset: orphanet_rare {source="Orphanet:73273"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "growth delay due to insulin-like growth factor I resistance" EXACT CLINGEN_LABEL [] +synonym: "growth delay due to insulin-like growth factor I resistance" EXACT CLINGEN_LABEL [icd11.foundation:272435490, Orphanet:73273] synonym: "IGF-1 resistance" RELATED [GARD:0010609] -synonym: "IGF-I resistance" RELATED [OMIM:270450] -synonym: "IGF1RES" RELATED ABBREVIATION [OMIM:270450] +synonym: "IGF-I resistance" RELATED [] +synonym: "IGF1RES" RELATED ABBREVIATION [] synonym: "insulin-like growth factor 1 resistance to" RELATED [GARD:0010609] -synonym: "insulin-like growth factor I, resistance to" RELATED [OMIM:270450] -synonym: "insulin-like Growth Factor I, resistance to, due to increased binding Protein" RELATED [OMIM:270450] +synonym: "insulin-like growth factor I, resistance to" RELATED [] +synonym: "insulin-like Growth Factor I, resistance to, due to increased binding Protein" RELATED [] synonym: "resistance to IGF-1" EXACT [Orphanet:73273] synonym: "Somatomedin end-organ insensitivity to" RELATED [GARD:0010609] -synonym: "Somatomedin, end-organ insensitivity to" RELATED [OMIM:270450] +synonym: "Somatomedin, end-organ insensitivity to" RELATED [] synonym: "Somatomedin-c resistance to" RELATED [GARD:0010609] -synonym: "Somatomedin-C, resistance to" RELATED [OMIM:270450] +synonym: "Somatomedin-C, resistance to" RELATED [] xref: GARD:10609 {source="MONDO:GARD"} xref: ICD10CM:E34.3 {source="Orphanet:73273/attributed", source="Orphanet:73273/ntbt", source="Orphanet:73273"} xref: icd11.foundation:272435490 {source="MONDO:equivalentTo"} @@ -220412,7 +220448,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1355"} subset: orphanet_rare {source="Orphanet:1355"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development" RELATED [OMIM:270460] +synonym: "round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development" RELATED [] synonym: "Sonoda syndrome" EXACT [OMIM:270460, Orphanet:1355] xref: GARD:4905 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1355/attributed", source="Orphanet:1355/ntbt", source="Orphanet:1355"} @@ -220431,7 +220467,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010040 name: ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability -synonym: "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability" EXACT [OMIM:270500] +synonym: "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability" EXACT [] synonym: "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation" EXACT DEPRECATED [OMIM:270500] xref: MEDGEN:462969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:270500 {source="MONDO:equivalentTo"} @@ -220449,14 +220485,14 @@ subset: orphanet_rare {source="Orphanet:98"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ARSACS" EXACT ABBREVIATION [Orphanet:98] -synonym: "autosomal recessive spastic ataxia of Charlevoix-Saguenay" RELATED [OMIM:270550] +synonym: "autosomal recessive spastic ataxia of Charlevoix-Saguenay" RELATED [] synonym: "autosomal recessive spastic ataxia type 6" EXACT [Orphanet:98] -synonym: "Charlevoix-Saguenay spastic ataxia" EXACT CLINGEN_LABEL [OMIM:270550] -synonym: "sacs" RELATED [MONDO:Lexical, OMIM:270550] -synonym: "spastic ataxia 6, autosomal recessive" RELATED [OMIM:270550] +synonym: "Charlevoix-Saguenay spastic ataxia" EXACT CLINGEN_LABEL [DOID:0050946, OMIM:270550] +synonym: "sacs" RELATED [MONDO:Lexical] +synonym: "spastic ataxia 6, autosomal recessive" RELATED [] synonym: "spastic ataxia Charlevoix-Saguenay type" RELATED [GARD:0004910] synonym: "spastic ataxia of Charlevoix-Saguenay" RELATED [GARD:0004910] -synonym: "spastic ataxia, Charlevoix-Saguenay type" RELATED [MONDO:Lexical, OMIM:270550] +synonym: "spastic ataxia, Charlevoix-Saguenay type" RELATED [MONDO:Lexical] synonym: "SPAX6" EXACT ABBREVIATION [Orphanet:98] xref: DOID:0050946 {source="MONDO:equivalentTo"} xref: GARD:4910 {source="MONDO:GARD"} @@ -220477,10 +220513,10 @@ id: MONDO:0010042 name: spastic diplegia and intellectual disability synonym: "hereditary spastic diplegia with intellectual disability" RELATED [GARD:0004911] synonym: "hereditary spastic diplegia with mental retardation" RELATED DEPRECATED [GARD:0004911] -synonym: "spastic diplegia and intellectual disability" EXACT [OMIM:270600] +synonym: "spastic diplegia and intellectual disability" EXACT [] synonym: "spastic diplegia and mental retardation" EXACT DEPRECATED [OMIM:270600] synonym: "spastic diplegia infantile type" RELATED [GARD:0004911] -synonym: "spastic diplegia, infantile type" RELATED [OMIM:270600] +synonym: "spastic diplegia, infantile type" RELATED [] xref: MEDGEN:376526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537481 {source="MONDO:equivalentTo"} xref: OMIM:270600 {source="MONDO:equivalentTo"} @@ -220499,16 +220535,16 @@ subset: orphanet_rare {source="Orphanet:100998"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 17" EXACT [DOID:0110770] -synonym: "autosomal dominant spastic paraplegia type 17" EXACT [DOID:0110770] +synonym: "autosomal dominant spastic paraplegia type 17" EXACT [DOID:0110770, Orphanet:100998] synonym: "BSCL2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "dHMN5B" EXACT [DOID:0110770] +synonym: "dHMN5B" EXACT ABBREVIATION [DOID:0110770] synonym: "distal hereditary motor neuropathy type 5B" EXACT [DOID:0110770] synonym: "hereditary spastic paraplegia caused by mutation in BSCL2" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 17" EXACT [DOID:0110770, MONDORULE:2] -synonym: "Silver spastic paraplegia syndrome" EXACT [DOID:0110770] -synonym: "Silver syndrome" EXACT [DOID:0110770, Orphanet:100998] +synonym: "hereditary spastic paraplegia type 17" EXACT [MONDORULE:2] +synonym: "Silver spastic paraplegia syndrome" EXACT [DOID:0110770, OMIM:270685] +synonym: "Silver syndrome" EXACT [DOID:0110770, OMIM:270685, Orphanet:100998] synonym: "spastic paraplegia 17" RELATED [GARD:0004219] -synonym: "spastic paraplegia 17, autosomal dominant" RELATED [MONDO:Lexical, OMIM:270685] +synonym: "spastic paraplegia 17, autosomal dominant" RELATED [MONDO:Lexical] synonym: "spastic paraplegia with amyotrophy of hands and feet" EXACT [DOID:0110770, OMIM:270685] synonym: "spastic paraplegia-amyotrophy of hands and feet" EXACT [DOID:0110770, Orphanet:100998] synonym: "SPG17" EXACT ABBREVIATION [DOID:0110770, MONDO:Lexical, OMIM:270685, Orphanet:100998] @@ -220539,16 +220575,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 15" EXACT [DOID:0110768] -synonym: "autosomal recessive spastic paraplegia type 15" EXACT [DOID:0110768] +synonym: "autosomal recessive spastic paraplegia type 15" EXACT [DOID:0110768, Orphanet:100996] synonym: "hereditary spastic paraparesis type 15" EXACT [DOID:0110768, Orphanet:100996] -synonym: "hereditary spastic paraplegia 15" EXACT CLINGEN_LABEL [] -synonym: "hereditary spastic paraplegia type 15" EXACT [DOID:0110768, MONDORULE:2] +synonym: "hereditary spastic paraplegia 15" EXACT CLINGEN_LABEL [DOID:0110768] +synonym: "hereditary spastic paraplegia type 15" EXACT [MONDORULE:2] synonym: "Kjellin syndrome" EXACT [DOID:0110768, OMIM:270700, Orphanet:100996] synonym: "recessive spastic paraplegia with retinal degeneration" RELATED [GARD:0009581] synonym: "spastic paraplegia 15" RELATED [GARD:0009581] -synonym: "spastic paraplegia 15, autosomal recessive" RELATED [MONDO:Lexical, OMIM:270700] -synonym: "spastic paraplegia and retinal Degeneration" RELATED [OMIM:270700] -synonym: "spastic paraplegia and retinal degeneration" EXACT [DOID:0110768] +synonym: "spastic paraplegia 15, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "spastic paraplegia and retinal Degeneration" RELATED [] +synonym: "spastic paraplegia and retinal degeneration" EXACT [DOID:0110768, OMIM:270700] synonym: "spastic paraplegia-retinal degeneration syndrome" EXACT [DOID:0110768, Orphanet:100996] synonym: "SPG15" EXACT ABBREVIATION [DOID:0110768, MONDO:Lexical, OMIM:270700, Orphanet:100996] synonym: "ZFYVE26 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -220571,11 +220607,11 @@ id: MONDO:0010045 name: obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome def: "OBSOLETE. This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely." [Orphanet:2823] comment: Obsolete in OMIM and Orphanet. -synonym: "Fitzsimmons syndrome" RELATED [OMIM:270710] -synonym: "FITZSIMMONS-Guilbert syndrome" RELATED [OMIM:270710] -synonym: "Fitzsimmons-Guilbert syndrome" EXACT [Orphanet:2823] -synonym: "moved to 270550, 190350, and 616944" RELATED [OMIM:270710] -synonym: "spastic paraplegia associated with brachydactyly type E" RELATED [OMIM:270710] +synonym: "Fitzsimmons syndrome" RELATED [] +synonym: "FITZSIMMONS-Guilbert syndrome" RELATED [] +synonym: "Fitzsimmons-Guilbert syndrome" EXACT [] +synonym: "moved to 270550, 190350, and 616944" RELATED [] +synonym: "spastic paraplegia associated with brachydactyly type E" RELATED [] xref: MESH:C537938 {source="MONDO:obsoleteEquivalent"} xref: OMIM:270710 {source="Orphanet:2823", source="Orphanet:2823/e", source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:2823 {source="OMIM:270710", source="MONDO:obsoleteEquivalentObsolete"} @@ -220596,13 +220632,13 @@ subset: orphanet_rare {source="Orphanet:101003"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive spastic paraplegia type 23" RELATED [Orphanet:101003] +synonym: "autosomal recessive spastic paraplegia type 23" RELATED [] synonym: "DSTYK autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia type 23" EXACT [DOID:0110774, MONDORULE:2] -synonym: "Lison syndrome" EXACT [DOID:0110774, Orphanet:101003] -synonym: "spastic paraparesis, vitiligo, premature graying, characteristic facies" RELATED [OMIM:270750] +synonym: "hereditary spastic paraplegia type 23" EXACT [MONDORULE:2] +synonym: "Lison syndrome" EXACT [DOID:0110774, OMIM:270750, Orphanet:101003] +synonym: "spastic paraparesis, vitiligo, premature graying, characteristic facies" RELATED [] synonym: "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome" EXACT [DOID:0110774, Orphanet:101003] -synonym: "spastic paraplegia 23" EXACT [DOID:0110774, MONDO:Lexical, OMIM:270750] +synonym: "spastic paraplegia 23" EXACT [DOID:0110774, MONDO:Lexical] synonym: "spastic paraplegia and pigmentary abnormalities" RELATED [GARD:0000336] synonym: "spastic paraplegia vitiligo premature graying and characteristic facies" RELATED [GARD:0000336] synonym: "spastic paraplegia vitiligo premature greying and characteristic facies" RELATED OMO:0003005 [] @@ -220636,14 +220672,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia" RELATED [GARD:0004926] synonym: "autosomal recessive spastic paraplegia 5A" EXACT [DOID:0110810] -synonym: "autosomal recessive spastic paraplegia type 5A" EXACT [DOID:0110810] +synonym: "autosomal recessive spastic paraplegia type 5A" EXACT [DOID:0110810, Orphanet:100986] synonym: "CYP7B1 pure or complex autosomal recessive spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia type 5A" EXACT [DOID:0110810, MONDORULE:4] +synonym: "hereditary spastic paraplegia type 5A" EXACT [MONDORULE:4] synonym: "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 5A" RELATED [GARD:0004926] -synonym: "spastic paraplegia 5A, autosomal recessive" RELATED [MONDO:Lexical, OMIM:270800] +synonym: "spastic paraplegia 5A, autosomal recessive" RELATED [MONDO:Lexical] synonym: "spastic paraplegia type 5A" RELATED [GARD:0004926] -synonym: "spastic paraplegia type 5B, recessive" EXACT [OMIM:270800] +synonym: "spastic paraplegia type 5B, recessive" EXACT [] synonym: "SPG5A" EXACT ABBREVIATION [DOID:0110810, MONDO:Lexical, OMIM:270800, Orphanet:100986] xref: DOID:0110810 {source="MONDO:equivalentTo"} xref: GARD:4926 {source="MONDO:GARD"} @@ -220679,8 +220715,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "spastic paresis glaucoma intellectual disability" RELATED [GARD:0004931] synonym: "spastic paresis glaucoma mental retardation" RELATED DEPRECATED [GARD:0004931] -synonym: "spastic paresis, glaucoma, and intellectual disability" RELATED [OMIM:270850] -synonym: "spastic paresis, glaucoma, and mental retardation" RELATED DEPRECATED [OMIM:270850] +synonym: "spastic paresis, glaucoma, and intellectual disability" RELATED [] +synonym: "spastic paresis, glaucoma, and mental retardation" RELATED DEPRECATED [] xref: GARD:4931 {source="MONDO:GARD"} xref: MEDGEN:376520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564809 {source="MONDO:equivalentTo"} @@ -220700,9 +220736,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010050 name: obsolete spastic pseudosclerosis -synonym: "corticopallidodegeneration" RELATED [OMIM:270900] -synonym: "disseminated encephalomyelopathy" RELATED [OMIM:270900] -synonym: "spastic pseudosclerosis" EXACT [OMIM:270900] +synonym: "corticopallidodegeneration" RELATED [] +synonym: "disseminated encephalomyelopathy" RELATED [] +synonym: "spastic pseudosclerosis" EXACT [] xref: MESH:C563024 {source="MONDO:obsoleteEquivalent"} xref: OMIM:270900 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} @@ -220723,8 +220759,8 @@ synonym: "progressive quadriparesis, intellectual disability, retinitis pigmento synonym: "progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss" RELATED DEPRECATED [GARD:0004932] synonym: "spastic quadriplegia retinitis pigmentosa intellectual disability" RELATED [GARD:0004932] synonym: "spastic quadriplegia retinitis pigmentosa mental retardation" RELATED DEPRECATED [GARD:0004932] -synonym: "spastic quadriplegia, retinitis pigmentosa, and intellectual disability" RELATED [OMIM:270950] -synonym: "spastic quadriplegia, retinitis pigmentosa, and mental retardation" RELATED DEPRECATED [OMIM:270950] +synonym: "spastic quadriplegia, retinitis pigmentosa, and intellectual disability" RELATED [] +synonym: "spastic quadriplegia, retinitis pigmentosa, and mental retardation" RELATED DEPRECATED [] synonym: "spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome" EXACT [Orphanet:3011] xref: GARD:4932 {source="MONDO:GARD"} xref: MEDGEN:376519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -220751,14 +220787,14 @@ subset: predisposition subset: rare synonym: "arrest of spermatogenesis" RELATED [GARD:0008530] synonym: "azoospermia caused by mutation in SYCP3" EXACT [MONDO:design_pattern] -synonym: "azoospermia due to Perturbations of meiosis" RELATED [OMIM:270960] -synonym: "azoospermia with maturation arrest" RELATED [OMIM:270960] -synonym: "pregnancy loss, recurrent, 4" RELATED [OMIM:270960] -synonym: "pregnancy loss, recurrent, susceptibility to, 4" RELATED [OMIM:270960] -synonym: "spermatogenesis arrest" RELATED [OMIM:270960] -synonym: "spermatogenic failure 4" EXACT [MONDO:Lexical, OMIM:270960] -synonym: "spermatogenic failure type 4" EXACT [MONDORULE:1, OMIM:270960] -synonym: "SPGF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:270960] +synonym: "azoospermia due to Perturbations of meiosis" RELATED [] +synonym: "azoospermia with maturation arrest" RELATED [] +synonym: "pregnancy loss, recurrent, 4" RELATED [] +synonym: "pregnancy loss, recurrent, susceptibility to, 4" RELATED [] +synonym: "spermatogenesis arrest" RELATED [] +synonym: "spermatogenic failure 4" EXACT [DOID:0070176, MONDO:Lexical, OMIM:270960] +synonym: "spermatogenic failure type 4" EXACT [MONDORULE:1] +synonym: "SPGF4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SYCP3 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070176 {source="MONDO:equivalentTo"} xref: GARD:15235 {source="MONDO:GARD"} @@ -220785,8 +220821,8 @@ synonym: "hereditary spherocytosis 3" EXACT [DOID:0110918] synonym: "hereditary spherocytosis caused by mutation in SPTA1" EXACT [MONDO:design_pattern] synonym: "HS3" EXACT ABBREVIATION [DOID:0110918] synonym: "SPH3" EXACT ABBREVIATION [DOID:0110918, MONDO:Lexical, OMIM:270970] -synonym: "spherocytosis, hereditary, 3" RELATED [OMIM:270970] -synonym: "spherocytosis, type 3" RELATED [MONDO:Lexical, OMIM:270970] +synonym: "spherocytosis, hereditary, 3" RELATED [] +synonym: "spherocytosis, type 3" RELATED [MONDO:Lexical] synonym: "SPTA1 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110918 {source="MONDO:equivalentTo"} xref: GARD:15236 {source="MONDO:GARD"} @@ -220803,7 +220839,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0010054 name: spinal muscular atrophy with intellectual disability -synonym: "spinal muscular atrophy with intellectual disability" EXACT [OMIM:271109] +synonym: "spinal muscular atrophy with intellectual disability" EXACT [] synonym: "spinal muscular atrophy with mental retardation" EXACT DEPRECATED [OMIM:271109] xref: MEDGEN:376518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564807 {source="MONDO:equivalentTo"} @@ -220814,7 +220850,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0010055 name: spinal muscular atrophy with microcephaly and mental subnormality -synonym: "spinal muscular atrophy with microcephaly and mental subnormality" EXACT [OMIM:271110] +synonym: "spinal muscular atrophy with microcephaly and mental subnormality" EXACT [] xref: MEDGEN:341384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564806 {source="MONDO:equivalentTo"} xref: OMIM:271110 {source="MONDO:equivalentTo"} @@ -220832,20 +220868,20 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adult spinal muscular atrophy" EXACT [DOID:0050529] synonym: "adult-onset spinal muscular atrophy" RELATED [GARD:0000564] -synonym: "proximal spinal muscular atrophy type 4" RELATED [Orphanet:83420] +synonym: "proximal spinal muscular atrophy type 4" RELATED [] synonym: "SMA 4" RELATED [GARD:0000564] synonym: "SMA type 4" EXACT [Orphanet:83420] synonym: "SMA type IV" EXACT [Orphanet:83420] -synonym: "SMA-IV" EXACT [Orphanet:83420] -synonym: "SMA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271150, Orphanet:83420] +synonym: "SMA-IV" EXACT ABBREVIATION [Orphanet:83420] +synonym: "SMA4" EXACT ABBREVIATION [DOID:0050529, MONDO:Lexical, OMIM:271150, Orphanet:83420] synonym: "spinal muscular atrophy 4" RELATED [GARD:0000564] synonym: "spinal muscular atrophy of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "spinal muscular atrophy type 4" RELATED [GARD:0000564] synonym: "spinal muscular atrophy, adult form" EXACT [DOID:0050529, GARD:0000564, OMIM:271150, Orphanet:83420] -synonym: "spinal muscular atrophy, proximal, adult, autosomal recessive" RELATED [GARD:0000564, OMIM:271150] -synonym: "spinal muscular atrophy, type 4" RELATED [OMIM:271150] -synonym: "spinal muscular atrophy, type IV" EXACT [DOID:0050529, MONDO:Lexical, OMIM:271150] -synonym: "spinal muscular atrophy-4" EXACT [OMIM:271150, OMIM:genemap2] +synonym: "spinal muscular atrophy, proximal, adult, autosomal recessive" RELATED [GARD:0000564] +synonym: "spinal muscular atrophy, type 4" RELATED [] +synonym: "spinal muscular atrophy, type IV" EXACT [DOID:0050529, MONDO:Lexical] +synonym: "spinal muscular atrophy-4" EXACT [] xref: DOID:0050529 {source="MONDO:equivalentTo"} xref: GARD:564 {source="MONDO:GARD"} xref: ICD10CM:G12.1 {source="Orphanet:83420/inclusion", source="Orphanet:83420", source="Orphanet:83420/ntbt"} @@ -220910,25 +220946,25 @@ subset: orphanet_rare {source="Orphanet:1186"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK" EXACT [] -synonym: "infantile onset spinocerebellar ataxia" EXACT [OMIM:271245] +synonym: "infantile onset spinocerebellar ataxia" EXACT [DOID:0080126] synonym: "IOSCA" EXACT ABBREVIATION [Orphanet:1186] -synonym: "mitochondrial DNA depletion syndrome 7" RELATED [DOID:0080126] +synonym: "mitochondrial DNA depletion syndrome 7" RELATED [] synonym: "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)" EXACT [MONDO:Lexical, OMIM:271245] -synonym: "mitochondrial DNA depletion syndrome type 7" EXACT [DOID:0080126, MONDORULE:1] -synonym: "MTDPS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271245] -synonym: "OHAHA syndrome" EXACT [DOID:0050556] -synonym: "Ohaha syndrome" EXACT [OMIM:271245, Orphanet:1186] +synonym: "mitochondrial DNA depletion syndrome type 7" EXACT [MONDORULE:1] +synonym: "MTDPS7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "OHAHA syndrome" EXACT [DOID:0080126, OMIM:271245, Orphanet:1186] +synonym: "Ohaha syndrome" EXACT [DOID:0080126, OMIM:271245, Orphanet:1186] synonym: "ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis" RELATED [GARD:0004062] synonym: "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis" RELATED [GARD:0004062] -synonym: "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis" RELATED [OMIM:271245] +synonym: "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis" RELATED [] synonym: "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome" EXACT [Orphanet:1186] synonym: "SCA8 (formerly)" RELATED [GARD:0004062] -synonym: "spinocerebellar ataxia 8" RELATED [OMIM:271245] +synonym: "spinocerebellar ataxia 8" RELATED [] synonym: "spinocerebellar ataxia 8 (formerly)" RELATED [GARD:0004062] -synonym: "spinocerebellar ataxia 8, formerly" RELATED [OMIM:271245] +synonym: "spinocerebellar ataxia 8, formerly" RELATED [] synonym: "spinocerebellar ataxia infantile with sensory neuropathy" RELATED [GARD:0004062] -synonym: "spinocerebellar ataxia, infantile, with sensory neuropathy" RELATED [OMIM:271245] -synonym: "spinocerebellar ataxia, infantile-onset" RELATED [OMIM:271245] +synonym: "spinocerebellar ataxia, infantile, with sensory neuropathy" RELATED [] +synonym: "spinocerebellar ataxia, infantile-onset" RELATED [] synonym: "TWNK autosomal recessive degenerative and progressive cerebellar ataxia" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0050556 {source="MONDO:equivalentObsolete"} xref: DOID:0080126 {source="MONDO:equivalentTo"} @@ -220958,14 +220994,14 @@ subset: orphanet_rare {source="Orphanet:95433"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive cerebellar ataxia - blindness - deafness" RELATED [GARD:0009971] -synonym: "autosomal recessive spinocerebellar ataxia type 3" EXACT [Orphanet:95433] -synonym: "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" RELATED [Orphanet:95433] -synonym: "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" EXACT [Orphanet:95433] -synonym: "SCABD" EXACT ABBREVIATION [Orphanet:95433] -synonym: "SCAR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271250, Orphanet:95433] +synonym: "autosomal recessive spinocerebellar ataxia type 3" EXACT [DOID:0111612, Orphanet:95433] +synonym: "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" RELATED [] +synonym: "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" EXACT [DOID:0111612, Orphanet:95433] +synonym: "SCABD" EXACT ABBREVIATION [DOID:0111612, Orphanet:95433] +synonym: "SCAR3" EXACT ABBREVIATION [DOID:0111612, MONDO:Lexical, OMIM:271250, Orphanet:95433] synonym: "spinocerebellar ataxia autosomal recessive 3" RELATED [GARD:0009971] -synonym: "spinocerebellar ataxia with blindness and deafness" RELATED [OMIM:271250] -synonym: "spinocerebellar ataxia, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:271250] +synonym: "spinocerebellar ataxia with blindness and deafness" RELATED [] +synonym: "spinocerebellar ataxia, autosomal recessive 3" RELATED [MONDO:Lexical] xref: DOID:0111612 {source="MONDO:equivalentTo"} xref: GARD:9971 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:95433/attributed", source="Orphanet:95433/ntbt", source="Orphanet:95433"} @@ -220985,7 +221021,7 @@ subset: ordo_disorder {source="Orphanet:1185"} subset: orphanet_rare {source="Orphanet:1185"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spinocerebellar ataxia with dysmorphism" RELATED [OMIM:271270] +synonym: "spinocerebellar ataxia with dysmorphism" RELATED [] xref: GARD:4958 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:1185/attributed", source="Orphanet:1185/ntbt", source="Orphanet:1185"} xref: MEDGEN:336495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -221006,11 +221042,11 @@ subset: orphanet_rare {source="Orphanet:3177"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "corneal cerebellar syndrome" RELATED [GARD:0001525] -synonym: "corneal dystrophy with spinocerebellar Degeneration" RELATED [OMIM:271310] -synonym: "corneal-cerebellar syndrome" EXACT [OMIM:271310] +synonym: "corneal dystrophy with spinocerebellar Degeneration" RELATED [] +synonym: "corneal-cerebellar syndrome" EXACT [icd11.foundation:577494924, OMIM:271310] synonym: "Der Kaloustian Jarudi Khoury syndrome" RELATED [GARD:0001525] -synonym: "Der Kaloustian-Jarudi-Khoury syndrome" EXACT [Orphanet:3177] -synonym: "spinocerebellar degeneration and corneal dystrophy" RELATED [OMIM:271310] +synonym: "Der Kaloustian-Jarudi-Khoury syndrome" EXACT [icd11.foundation:577494924, Orphanet:3177] +synonym: "spinocerebellar degeneration and corneal dystrophy" RELATED [] synonym: "spinocerebellar degeneration corneal dystrophy" RELATED [GARD:0001525] synonym: "spinocerebellar degeneration-corneal dystrophy syndrome" EXACT [Orphanet:3177] xref: GARD:1525 {source="MONDO:GARD"} @@ -221043,7 +221079,7 @@ synonym: "Mousa-Al Din-Al Nassar syndrome" EXACT [Orphanet:2572] synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs" RELATED OMO:0003005 [] synonym: "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted disks" RELATED [GARD:0003795] synonym: "spastic ataxia-ocular anomalies syndrome" EXACT [Orphanet:2572] -synonym: "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" RELATED [OMIM:271320] +synonym: "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" RELATED [] xref: GARD:3795 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:2572", source="Orphanet:2572/attributed", source="Orphanet:2572/ntbt"} xref: MEDGEN:336493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -221065,7 +221101,7 @@ name: spinocerebellar degeneration with slow eye movements comment: Editor note: check this subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "SDSEM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271322] +synonym: "SDSEM" RELATED ABBREVIATION [MONDO:Lexical] synonym: "spinocerebellar degeneration with slow eye movements" EXACT [MONDO:Lexical, OMIM:271322] xref: OMIM:271322 {source="MONDO:equivalentTo"} is_a: MONDO:0008458 ! spinocerebellar ataxia type 2 @@ -221081,11 +221117,11 @@ subset: ordo_morphological_anomaly {source="Orphanet:101351"} subset: orphanet_rare {source="Orphanet:101351"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "asplenia, familial" RELATED [OMIM:271400] -synonym: "asplenia, isolated congenital" RELATED [MONDO:Lexical, OMIM:271400] -synonym: "hyposplenia, isolated congenital" RELATED [OMIM:271400] -synonym: "ICAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271400] -synonym: "splenic hypoplasia" RELATED [OMIM:271400] +synonym: "asplenia, familial" RELATED [] +synonym: "asplenia, isolated congenital" RELATED [MONDO:Lexical] +synonym: "hyposplenia, isolated congenital" RELATED [] +synonym: "ICAS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "splenic hypoplasia" RELATED [] xref: GARD:16944 {source="MONDO:GARD"} xref: ICD10CM:Q89.0 {source="Orphanet:101351/attributed", source="Orphanet:101351/ntbt", source="Orphanet:101351"} xref: MEDGEN:151935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -221128,16 +221164,16 @@ subset: orphanet_rare {source="Orphanet:93357"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation" RELATED [GARD:0004970] -synonym: "short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation" RELATED [OMIM:271510] -synonym: "Sponastrime dysplasia" RELATED [OMIM:271510] -synonym: "sponastrime dysplasia" EXACT [DOID:5684] -synonym: "spondylar and nasal alterations with striated metaphyses" RELATED [OMIM:271510] -synonym: "spondylar and nasal alterations-striated metaphyses syndrome" EXACT [DOID:5684, NCIT:C3034] +synonym: "short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation" RELATED [] +synonym: "Sponastrime dysplasia" RELATED [] +synonym: "sponastrime dysplasia" EXACT [DOID:5684, NCIT:C129031, OMIM:271510, Orphanet:93357] +synonym: "spondylar and nasal alterations with striated metaphyses" RELATED [] +synonym: "spondylar and nasal alterations-striated metaphyses syndrome" EXACT [DOID:5684] synonym: "spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia" EXACT [Orphanet:93357] -synonym: "spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia" EXACT [Orphanet:93357] +synonym: "spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia" EXACT [] synonym: "spondyloepimetaphyseal dysplasia Sponastrime type" RELATED [GARD:0004970] -synonym: "spondyloepimetaphyseal dysplasia, Sponastrime type" EXACT [Orphanet:93357] -synonym: "spondyloepimetaphyseal dysplasia, sponastrime type" EXACT [OMIM:271510] +synonym: "spondyloepimetaphyseal dysplasia, Sponastrime type" EXACT [DOID:5684, NCIT:C129031, OMIM:271510, Orphanet:93357] +synonym: "spondyloepimetaphyseal dysplasia, sponastrime type" EXACT [DOID:5684, NCIT:C129031, OMIM:271510, Orphanet:93357] xref: DOID:5684 {source="MONDO:equivalentTo"} xref: GARD:4970 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93357", source="Orphanet:93357/attributed", source="Orphanet:93357/ntbt"} @@ -221166,10 +221202,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:94095"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Casamassima-Morton-Nance syndrome" EXACT [OMIM:271520, Orphanet:94095] -synonym: "CMn syndrome" RELATED [OMIM:271520] -synonym: "spondylocostal dysostosis with anal atresia and urogenital anomalies" RELATED [OMIM:271520] -synonym: "spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome" RELATED [Orphanet:94095] +synonym: "Casamassima-Morton-Nance syndrome" EXACT [OMIM:271520] +synonym: "CMn syndrome" RELATED [] +synonym: "spondylocostal dysostosis with anal atresia and urogenital anomalies" RELATED [] +synonym: "spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome" RELATED [] xref: ICD10CM:Q87.8 {source="Orphanet:94095/attributed", source="Orphanet:94095/ntbt", source="Orphanet:94095"} xref: MEDGEN:341373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564799 {source="MONDO:equivalentTo"} @@ -221194,9 +221230,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BCYM1A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271530] -synonym: "brachyolmia type 1, Hobaek type" EXACT [MONDO:Lexical, OMIM:271530] -synonym: "brachyolmia, recessive type of Hobaek" RELATED [OMIM:271530] -synonym: "spondylodysplasia with Pure brachyolmia" RELATED [OMIM:271530] +synonym: "brachyolmia type 1, Hobaek type" EXACT [icd11.foundation:1213374086, MONDO:Lexical, OMIM:271530] +synonym: "brachyolmia, recessive type of Hobaek" RELATED [] +synonym: "spondylodysplasia with Pure brachyolmia" RELATED [] xref: GARD:995 {source="MONDO:GARD"} xref: icd11.foundation:1213374086 {source="MONDO:equivalentTo"} xref: MEDGEN:338605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -221221,7 +221257,7 @@ def: "Autosomal recessive form of spondyloepiphyseal dysplasia tarda." [MONDO:pa subset: gard_rare {source="GARD:15237", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive spondyloepiphyseal dysplasia tarda" EXACT [MONDO:design_pattern] +synonym: "autosomal recessive spondyloepiphyseal dysplasia tarda" EXACT [DOID:0112293, MONDO:design_pattern] synonym: "spondyloepiphyseal dysplasia tarda, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:271600] xref: DOID:0112293 {source="MONDO:equivalentTo"} xref: GARD:15237 {source="MONDO:GARD"} @@ -221246,10 +221282,10 @@ subset: ordo_disorder {source="Orphanet:163665"} subset: orphanet_rare {source="Orphanet:163665"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Sedt with intellectual disability" RELATED [OMIM:271620] -synonym: "Sedt with mental retardation" RELATED DEPRECATED [OMIM:271620] -synonym: "spondyloepiphyseal dysplasia tarda with intellectual disability" RELATED [OMIM:271620] -synonym: "spondyloepiphyseal dysplasia tarda with mental retardation" RELATED DEPRECATED [OMIM:271620] +synonym: "Sedt with intellectual disability" RELATED [] +synonym: "Sedt with mental retardation" RELATED DEPRECATED [] +synonym: "spondyloepiphyseal dysplasia tarda with intellectual disability" RELATED [] +synonym: "spondyloepiphyseal dysplasia tarda with mental retardation" RELATED DEPRECATED [] xref: DOID:0112292 {source="MONDO:equivalentTo"} xref: GARD:16995 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:163665", source="Orphanet:163665/attributed", source="Orphanet:163665/ntbt"} @@ -221272,12 +221308,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BCYM1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271630] -synonym: "brachyolmia type 1, Toledo type" RELATED [MONDO:Lexical, OMIM:271630] -synonym: "PAPS-chondroitin sulfate sulfotransferase deficiency" RELATED [OMIM:271630] +synonym: "brachyolmia type 1, Toledo type" RELATED [MONDO:Lexical] +synonym: "PAPS-chondroitin sulfate sulfotransferase deficiency" RELATED [] synonym: "PAPS-chondroitin sulphate sulfotransferase deficiency" RELATED OMO:0003005 [] -synonym: "Sed, chondroitin sulfate type" RELATED [OMIM:271630] +synonym: "Sed, chondroitin sulfate type" RELATED [] synonym: "Sed, chondroitin sulphate type" RELATED OMO:0003005 [] -synonym: "spondyloepiphyseal dysplasia tarda, Toledo type" RELATED [OMIM:271630] +synonym: "spondyloepiphyseal dysplasia tarda, Toledo type" RELATED [] xref: GARD:4977 {source="MONDO:GARD"} xref: icd11.foundation:637954533 {source="MONDO:equivalentTo"} xref: MEDGEN:376504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -221298,12 +221334,12 @@ subset: orphanet_rare {source="Orphanet:642099"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SEMDJL" BROAD ABBREVIATION [OMIM:271640] -synonym: "SEMDJL1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271640] +synonym: "SEMDJL" BROAD ABBREVIATION [] +synonym: "SEMDJL1" EXACT ABBREVIATION [DOID:0112198, MONDO:Lexical, OMIM:271640, Orphanet:642099] synonym: "spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6" EXACT [MONDO:design_pattern] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" EXACT [Orphanet:642099] -synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures" RELATED [OMIM:271640] -synonym: "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" EXACT [MONDO:Lexical, OMIM:271640] +synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures" RELATED [] +synonym: "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" EXACT [DOID:0112198, MONDO:Lexical, OMIM:271640] xref: DOID:0112198 {source="MONDO:equivalentTo"} xref: MEDGEN:865814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:271640 {source="MONDO:equivalentTo"} @@ -221327,8 +221363,8 @@ subset: orphanet_rare {source="Orphanet:93351"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SEMD, Irapa type" EXACT [Orphanet:93351] -synonym: "SEMDIT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271650] -synonym: "spondyloepimetaphyseal dysplasia, Irapa type" EXACT [MONDO:Lexical, OMIM:271650] +synonym: "SEMDIT" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spondyloepimetaphyseal dysplasia, Irapa type" EXACT [icd11.foundation:1355637988, MONDO:Lexical, OMIM:271650, Orphanet:93351] xref: GARD:16819 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93351", source="Orphanet:93351/attributed", source="Orphanet:93351/ntbt"} xref: icd11.foundation:1355637988 {source="MONDO:equivalentTo"} @@ -221356,16 +221392,16 @@ subset: rare synonym: "Smed short limb-abnormal calcification type" RELATED [GARD:0010616] synonym: "SMED short limb-hand type" RELATED [GARD:0010616] synonym: "SMED type 2" RELATED [GARD:0010616] -synonym: "Smed, short limb-abnormal calcification type" RELATED [OMIM:271665] -synonym: "Smed, short limb-hand type" RELATED [OMIM:271665] -synonym: "Smed, type 2" RELATED [OMIM:271665] -synonym: "Smed-SL" RELATED [OMIM:271665] -synonym: "Smed-SL/Ac" RELATED [OMIM:271665] +synonym: "Smed, short limb-abnormal calcification type" RELATED [] +synonym: "Smed, short limb-hand type" RELATED [] +synonym: "Smed, type 2" RELATED [] +synonym: "Smed-SL" RELATED [] +synonym: "Smed-SL/Ac" RELATED [] synonym: "spondyloepimetaphyseal dysplasia - short limb - abnormal calcification" RELATED [GARD:0010616] synonym: "spondylometaepiphyseal dysplasia short limb-abnormal calcification type" RELATED [GARD:0010616] synonym: "spondylometaepiphyseal dysplasia short limb-hand type" RELATED [GARD:0010616] -synonym: "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type" RELATED [OMIM:271665] -synonym: "spondylometaepiphyseal dysplasia, short limb-hand type" RELATED [OMIM:271665] +synonym: "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type" RELATED [] +synonym: "spondylometaepiphyseal dysplasia, short limb-hand type" RELATED [] xref: DOID:0112196 {source="MONDO:equivalentTo"} xref: GARD:10616 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93358", source="Orphanet:93358/attributed", source="Orphanet:93358/ntbt"} @@ -221392,9 +221428,9 @@ subset: ordo_disorder {source="Orphanet:1856"} subset: orphanet_rare {source="Orphanet:1856"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spondyloperipheral dysplasia" EXACT [OMIM:271700] -synonym: "spondyloperipheral dysplasia with short ulna" RELATED [OMIM:271700] -synonym: "spondyloperipheral dysplasia-short ulna syndrome" EXACT [https://orcid.org/0000-0001-8612-1062] +synonym: "spondyloperipheral dysplasia" EXACT [DOID:0112195, NCIT:C135088, OMIM:271700] +synonym: "spondyloperipheral dysplasia with short ulna" RELATED [] +synonym: "spondyloperipheral dysplasia-short ulna syndrome" EXACT [DOID:0112195, https://orcid.org/0000-0001-8612-1062, Orphanet:1856] xref: DOID:0112195 {source="MONDO:equivalentTo"} xref: GARD:4994 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:1856/attributed", source="Orphanet:1856/ntbt", source="Orphanet:1856"} @@ -221425,17 +221461,17 @@ subset: ordo_disorder {source="Orphanet:141"} subset: orphanet_rare {source="Orphanet:141"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACY2 deficiency" EXACT [Orphanet:141] -synonym: "Acy2 deficiency" RELATED [OMIM:271900] -synonym: "aminoacylase 2 deficiency" EXACT [Orphanet:141] -synonym: "Asp deficiency" RELATED [OMIM:271900] -synonym: "Aspa deficiency" RELATED [OMIM:271900] -synonym: "aspartoacylase deficiency" EXACT [OMIM:271900, Orphanet:141] -synonym: "Canavan disease" EXACT CLINGEN_LABEL [OMIM:271900] -synonym: "Canavan-VAN Bogaert-Bertrand disease" EXACT [DOID:3613] -synonym: "Canavan-Van Bogaert-Bertrand disease" RELATED [OMIM:271900] -synonym: "spongy Degeneration of central nervous system" RELATED [OMIM:271900] -synonym: "spongy degeneration of central nervous system" EXACT [DOID:3613] +synonym: "ACY2 deficiency" EXACT [DOID:3613, OMIM:271900, Orphanet:141] +synonym: "Acy2 deficiency" RELATED [] +synonym: "aminoacylase 2 deficiency" EXACT [DOID:3613, OMIM:271900, Orphanet:141] +synonym: "Asp deficiency" RELATED [] +synonym: "Aspa deficiency" RELATED [] +synonym: "aspartoacylase deficiency" EXACT [DOID:3613, icd11.foundation:1576870846, OMIM:271900, Orphanet:141] +synonym: "Canavan disease" EXACT CLINGEN_LABEL [DOID:3613, icd11.foundation:1576870846, NCIT:C84611, OMIM:271900, Orphanet:141] +synonym: "Canavan-VAN Bogaert-Bertrand disease" EXACT [DOID:3613, icd11.foundation:1576870846, OMIM:271900] +synonym: "Canavan-Van Bogaert-Bertrand disease" RELATED [] +synonym: "spongy Degeneration of central nervous system" RELATED [] +synonym: "spongy degeneration of central nervous system" EXACT [DOID:3613, icd11.foundation:1576870846, NCIT:C84611, OMIM:271900] synonym: "spongy degeneration of the brain" EXACT [Orphanet:141] synonym: "spongy degeneration of the central nervous system" RELATED [GARD:0005984] synonym: "Von Bogaert-Bertrand disease" RELATED [GARD:0005984] @@ -221472,17 +221508,17 @@ subset: ordo_disorder {source="Orphanet:225154"} subset: orphanet_rare {source="Orphanet:225154"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bilateral striatal Necrosis, infantile" RELATED [OMIM:271930] +synonym: "bilateral striatal Necrosis, infantile" RELATED [] synonym: "familial bilateral striatal necrosis" RELATED [GARD:0010665] synonym: "familial IBSN" EXACT [Orphanet:225154] synonym: "familial infantile striatonigral degeneration" EXACT [Orphanet:225154] synonym: "familial infantile striatonigral necrosis" EXACT [Orphanet:225154] synonym: "FBSN" RELATED ABBREVIATION [GARD:0010665] synonym: "hereditary infantile bilateral striatal necrosis" EXACT [MONDO:patterns/hereditary] -synonym: "infantile bilateral striatal necrosis" RELATED [OMIM:271930] -synonym: "SNDI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271930] -synonym: "striatal degeneration, familial" RELATED [OMIM:271930] -synonym: "striatonigral degeneration, infantile" RELATED [MONDO:Lexical, OMIM:271930] +synonym: "infantile bilateral striatal necrosis" RELATED [] +synonym: "SNDI" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "striatal degeneration, familial" RELATED [] +synonym: "striatonigral degeneration, infantile" RELATED [MONDO:Lexical] xref: GARD:17141 {source="MONDO:GARD"} xref: ICD10CM:G23.2 {source="Orphanet:225154/attributed", source="Orphanet:225154/ntbt", source="Orphanet:225154"} xref: icd11.foundation:1873983370 {source="MONDO:equivalentTo"} @@ -221531,7 +221567,7 @@ subset: orphanet_rare {source="Orphanet:3191"} subset: rare synonym: "Onat syndrome" EXACT [OMIM:271960, Orphanet:3191] synonym: "subaortic stenosis short stature syndrome" RELATED [GARD:0000405] -synonym: "subaortic stenosis--short stature syndrome" RELATED [OMIM:271960] +synonym: "subaortic stenosis--short stature syndrome" RELATED [] xref: GARD:405 {source="MONDO:GARD"} xref: MEDGEN:167085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537749 {source="MONDO:equivalentTo"} @@ -221555,14 +221591,14 @@ subset: orphanet_rare {source="Orphanet:22"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "4-hydroxybutyric aciduria" EXACT [DOID:0060175, OMIM:271980, Orphanet:22] -synonym: "GABA metabolic defect" RELATED [OMIM:271980] +synonym: "GABA metabolic defect" RELATED [] synonym: "gamma-hydroxybutyric aciduria" EXACT [DOID:0060175, OMIM:271980, Orphanet:22] synonym: "gamma-hydroxybutyricaciduria" RELATED [GARD:0007695] synonym: "SSADH" EXACT ABBREVIATION [DOID:0060175] -synonym: "SSADH deficiency" EXACT [Orphanet:22] -synonym: "Ssadh deficiency" RELATED [OMIM:271980] -synonym: "SSADHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:271980] -synonym: "succinic semialdehyde dehydrogenase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:271980] +synonym: "SSADH deficiency" EXACT [OMIM:271980, Orphanet:22] +synonym: "Ssadh deficiency" RELATED [] +synonym: "SSADHD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "succinic semialdehyde dehydrogenase deficiency" EXACT CLINGEN_LABEL [DOID:0060175, MONDO:Lexical, OMIM:271980, Orphanet:22] xref: DOID:0060175 {source="MONDO:equivalentTo"} xref: GARD:7695 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:22/attributed", source="Orphanet:22/ntbt", source="Orphanet:22"} @@ -221582,8 +221618,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7695/succini [Term] id: MONDO:0010084 name: sucrosuria, hiatus hernia and intellectual disability -synonym: "sucrosuria, hiatus hernia and intellectual disability" EXACT [OMIM:272000] -synonym: "sucrosuria, hiatus hernia and mental retardation" EXACT DEPRECATED [OMIM:272000] +synonym: "sucrosuria, hiatus hernia and intellectual disability" EXACT [] +synonym: "sucrosuria, hiatus hernia and mental retardation" EXACT DEPRECATED [] xref: MEDGEN:338583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564792 {source="MONDO:equivalentTo"} xref: OMIM:272000 {source="MONDO:equivalentTo"} @@ -221599,9 +221635,9 @@ subset: ordo_disorder {source="Orphanet:59298"} subset: orphanet_rare {source="Orphanet:59298"} subset: rare synonym: "myelinoclastic diffuse sclerosis" EXACT [Orphanet:59298] -synonym: "Schilder disease" EXACT [OMIM:272100] -synonym: "Schilder's disease" EXACT [Orphanet:59298] -synonym: "sudanophillic cerebral sclerosis" RELATED [OMIM:272100] +synonym: "Schilder disease" EXACT [OMIM:272100, Orphanet:59298] +synonym: "Schilder's disease" EXACT [] +synonym: "sudanophillic cerebral sclerosis" RELATED [] xref: GARD:16661 {source="MONDO:GARD"} xref: ICD10CM:G37.0 {source="Orphanet:59298", source="Orphanet:59298/e"} xref: ICD9:341.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -221618,18 +221654,18 @@ id: MONDO:0010086 name: obsolete sudden infant death syndrome def: "OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource." [https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome] comment: This is not really a disease, and it is really an outcome of a variety of potential reasons, some which could be genetic, or environmental or maybe entirely unknown. -synonym: "cot death" EXACT [DOID:9007] -synonym: "cot death (context-dependent category)" EXACT [DOID:9007] -synonym: "crib death" EXACT [NCIT:C85173] -synonym: "Crib death (context-dependent category)" EXACT [DOID:9007] -synonym: "SIDS" EXACT ABBREVIATION [DOID:9007] -synonym: "Sids" RELATED [OMIM:272120] -synonym: "sudden death of nonspecific cause in infancy" EXACT [DOID:9007] -synonym: "sudden infant death syndrome" EXACT [OMIM:272120] -synonym: "sudden infant death syndrome (context-dependent category)" EXACT [DOID:9007] -synonym: "sudden infant death syndrome (finding)" EXACT [DOID:9007] -synonym: "sudden infant death syndrome NOS (context-dependent category)" EXACT [DOID:9007] -synonym: "sudden infant death syndrome, susceptibility to" EXACT [OMIM:272120, OMIM:genemap2] +synonym: "cot death" EXACT [] +synonym: "cot death (context-dependent category)" EXACT [] +synonym: "crib death" EXACT [] +synonym: "Crib death (context-dependent category)" EXACT [] +synonym: "SIDS" EXACT ABBREVIATION [] +synonym: "Sids" RELATED [] +synonym: "sudden death of nonspecific cause in infancy" EXACT [] +synonym: "sudden infant death syndrome" EXACT [] +synonym: "sudden infant death syndrome (context-dependent category)" EXACT [] +synonym: "sudden infant death syndrome (finding)" EXACT [] +synonym: "sudden infant death syndrome NOS (context-dependent category)" EXACT [] +synonym: "sudden infant death syndrome, susceptibility to" EXACT [] xref: DOID:9007 {source="MONDO:obsoleteEquivalent", source="EFO:0005303"} xref: ICD10WHO:R95 {source="MONDO:obsoleteEquivalent"} xref: ICD9:798.0 {source="DOID:9007", source="EFO:0005303"} @@ -221659,9 +221695,9 @@ subset: ordo_morphological_anomaly subset: orphanet_rare {source="Orphanet:498602"} subset: rare synonym: "brachydactyly of the hands and feet with duplication of the first toes" RELATED [GARD:0005058] -synonym: "brachydactyly with Major proximal phalangeal shortening" RELATED [OMIM:272150] -synonym: "brachydactyly with major proximal phalangeal shortening" EXACT [DOID:0110979] -synonym: "Sugarman brachydactyly" EXACT [OMIM:272150] +synonym: "brachydactyly with Major proximal phalangeal shortening" RELATED [] +synonym: "brachydactyly with major proximal phalangeal shortening" EXACT [DOID:0110979, OMIM:272150] +synonym: "Sugarman brachydactyly" EXACT [DOID:0110979, OMIM:272150, Orphanet:498602] synonym: "Sugarman-Hager-Kulik syndrome" EXACT [Orphanet:498602] xref: DOID:0110979 {source="MONDO:equivalentTo"} xref: GARD:5058 {source="MONDO:GARD"} @@ -221684,12 +221720,12 @@ subset: orphanet_rare {source="Orphanet:585"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "juvenile sulfatidosis" RELATED [GARD:0005061] -synonym: "juvenile sulfatidosis, Austin type" EXACT [Orphanet:585] +synonym: "juvenile sulfatidosis, Austin type" EXACT [] synonym: "MSD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:272200, Orphanet:585] -synonym: "mucosulfatidosis" EXACT CLINGEN_LABEL [OMIM:272200, Orphanet:585] -synonym: "Multiple Sulfatase Deficiency" EXACT [NORD:1471] -synonym: "multiple sulfatase deficiency" RELATED [MONDO:Lexical, OMIM:272200] -synonym: "multiple sulfatase deficiency disease" EXACT [DOID:0050441] +synonym: "mucosulfatidosis" EXACT CLINGEN_LABEL [DOID:0050441, icd11.foundation:848083807, OMIM:272200, Orphanet:585] +synonym: "Multiple Sulfatase Deficiency" EXACT [icd11.foundation:848083807, NORD:1471, OMIM:272200, Orphanet:585] +synonym: "multiple sulfatase deficiency" RELATED [MONDO:Lexical] +synonym: "multiple sulfatase deficiency disease" EXACT [DOID:0050441, NCIT:C84908] synonym: "sulfatidosis juvenile, Austin type" RELATED [GARD:0005061] synonym: "sulfatidosis, juvenile, Austin type" EXACT [DOID:0050441, OMIM:272200] xref: DOID:0050441 {source="MONDO:equivalentTo"} @@ -221730,11 +221766,11 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:99731"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ISOD" EXACT ABBREVIATION [OMIM:272300, Orphanet:99731] -synonym: "isolated sulfite oxidase deficiency" EXACT CLINGEN_LABEL [] -synonym: "sulfite oxidase deficiency" EXACT [OMIM:272300] +synonym: "isolated sulfite oxidase deficiency" EXACT CLINGEN_LABEL [DOID:0111270, icd11.foundation:963607692, Orphanet:99731] +synonym: "sulfite oxidase deficiency" EXACT [] synonym: "sulfite oxidase deficiency, isolated" EXACT [OMIM:272300] -synonym: "Sulfocysteinuria" EXACT [Orphanet:99731] -synonym: "sulfocysteinuria" EXACT [OMIM:272300] +synonym: "Sulfocysteinuria" EXACT [DOID:0111270, OMIM:272300, Orphanet:99731] +synonym: "sulfocysteinuria" EXACT [DOID:0111270, OMIM:272300, Orphanet:99731] xref: DOID:0111270 {source="MONDO:equivalentTo"} xref: GARD:5062 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:99731", source="Orphanet:99731/attributed", source="Orphanet:99731/ntbt"} @@ -221788,14 +221824,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:1545"} subset: orphanet_rare {source="Orphanet:1545"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CISS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272430] -synonym: "cold-induced sweating syndrome 1" RELATED [MONDO:Lexical, OMIM:272430] -synonym: "cold-induced sweating syndrome type 1" EXACT [MONDORULE:1, OMIM:272430] -synonym: "Crisponi syndrome" EXACT [OMIM:272430] -synonym: "CRISPONI/cold-induced sweating syndrome 1" RELATED [OMIM:272430] -synonym: "Crisponi/cold-induced sweating syndrome 1" RELATED [OMIM:272430] -synonym: "muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death" RELATED [OMIM:272430] -synonym: "Sohar-Crisponi syndrome" RELATED [OMIM:272430] +synonym: "CISS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "cold-induced sweating syndrome 1" RELATED [MONDO:Lexical] +synonym: "cold-induced sweating syndrome type 1" EXACT [MONDORULE:1] +synonym: "Crisponi syndrome" EXACT [OMIM:272430, Orphanet:1545] +synonym: "CRISPONI/cold-induced sweating syndrome 1" RELATED [] +synonym: "Crisponi/cold-induced sweating syndrome 1" RELATED [] +synonym: "muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death" RELATED [] +synonym: "Sohar-Crisponi syndrome" RELATED [] xref: DOID:0080329 {source="MONDO:equivalentTo"} xref: GARD:1611 {source="MONDO:GARD"} xref: ICD10CM:G90.8 {source="Orphanet:1545", source="Orphanet:1545/attributed", source="Orphanet:1545/ntbt"} @@ -221821,16 +221857,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:3255"} subset: orphanet_rare {source="Orphanet:3255"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FILIPPI syndrome" RELATED [OMIM:272440] -synonym: "Filippi syndrome" EXACT [MONDO:Lexical, OMIM:272440] -synonym: "FLPIS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272440] -synonym: "Scott craniodigital syndrome with intellectual disability" RELATED [OMIM:272440] -synonym: "Scott craniodigital syndrome with mental retardation" RELATED DEPRECATED [OMIM:272440] +synonym: "FILIPPI syndrome" RELATED [] +synonym: "Filippi syndrome" EXACT [DOID:0112194, icd11.foundation:1989471300, MONDO:Lexical, OMIM:272440, Orphanet:3255] +synonym: "FLPIS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Scott craniodigital syndrome with intellectual disability" RELATED [] +synonym: "Scott craniodigital syndrome with mental retardation" RELATED DEPRECATED [] synonym: "syndactyly type I with microcephaly and intellectual disability" RELATED [GARD:0000062] synonym: "syndactyly type I with microcephaly and mental retardation" RELATED DEPRECATED [GARD:0000062] -synonym: "syndactyly, type I, with microcephaly and intellectual disability" RELATED [OMIM:272440] -synonym: "syndactyly, type I, with microcephaly and mental retardation" RELATED DEPRECATED [OMIM:272440] -synonym: "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT [Orphanet:3255] +synonym: "syndactyly, type I, with microcephaly and intellectual disability" RELATED [] +synonym: "syndactyly, type I, with microcephaly and mental retardation" RELATED DEPRECATED [] +synonym: "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT [DOID:0112194, Orphanet:3255] synonym: "unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly" RELATED [GARD:0000062] synonym: "unusual facial appearance, microcephaly, growth and mental retardation and syndactyly" RELATED DEPRECATED [GARD:0000062] xref: DOID:0112194 {source="MONDO:equivalentTo"} @@ -221876,14 +221912,14 @@ subset: rare synonym: "congenital scoliosis with unilateral unsegmented bar" EXACT [DOID:0090116] synonym: "congenital synspondylism" EXACT [DOID:0090116] synonym: "scoliosis, congenital with unilateral unsegmented bar" RELATED [GARD:0004974] -synonym: "scoliosis, congenital, with unilateral unsegmented Bar" RELATED [OMIM:272460] +synonym: "scoliosis, congenital, with unilateral unsegmented Bar" RELATED [] synonym: "SCT" EXACT ABBREVIATION [DOID:0090116, MONDO:Lexical, OMIM:272460] synonym: "spondylocarpotarsal syndrome" EXACT [DOID:0090116, OMIM:272460] -synonym: "spondylocarpotarsal synostosis" EXACT [DOID:0090116] -synonym: "spondylocarpotarsal synostosis syndrome" EXACT [MONDO:Lexical, OMIM:272460] +synonym: "spondylocarpotarsal synostosis" EXACT [DOID:0090116, Orphanet:3275] +synonym: "spondylocarpotarsal synostosis syndrome" EXACT [DOID:0090116, MONDO:Lexical, OMIM:272460] synonym: "Synspondylism" EXACT [Orphanet:3275] synonym: "Synspondylism congenital" RELATED [GARD:0004974] -synonym: "Synspondylism, congenital" RELATED [OMIM:272460] +synonym: "Synspondylism, congenital" RELATED [] synonym: "vertebral fusion with carpal coalition" EXACT [DOID:0090116, OMIM:272460] xref: DOID:0090116 {source="MONDO:equivalentTo"} xref: GARD:4974 {source="MONDO:GARD"} @@ -221910,7 +221946,7 @@ subset: ordo_disorder {source="Orphanet:1178"} subset: orphanet_rare {source="Orphanet:1178"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "tapetoretinal degeneration with ataxia" RELATED [OMIM:272600] +synonym: "tapetoretinal degeneration with ataxia" RELATED [] xref: GARD:16559 {source="MONDO:GARD"} xref: MEDGEN:336461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564788 {source="MONDO:equivalentTo"} @@ -221955,7 +221991,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:3289"} subset: otar {source="MONDO:OTAR"} synonym: "Bull teeth" RELATED [GARD:0005119] synonym: "large pulp chambers in the molars" RELATED [GARD:0005119] -synonym: "taurodontism" EXACT [MONDO:ambiguous, OMIM:272700] +synonym: "taurodontism" EXACT [icd11.foundation:356382747, MONDO:ambiguous, OMIM:272700] synonym: "taurodontism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000679 {source="MONDO:otherHierarchy"} xref: ICD10CM:K00.2 {source="Orphanet:3289/ntbt", source="Orphanet:3289", source="Orphanet:3289/inclusion"} @@ -221981,12 +222017,12 @@ subset: ordo_disorder {source="Orphanet:309246"} subset: orphanet_rare {source="Orphanet:309246"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ab variant GM2-gangliosidosis" RELATED [OMIM:272750] -synonym: "GM2 activator deficiency" RELATED [OMIM:272750] -synonym: "GM2 gangliosidosis, AB variant" RELATED [Orphanet:309246] -synonym: "GM2-gangliosidosis, AB variant" RELATED [OMIM:272750] +synonym: "Ab variant GM2-gangliosidosis" RELATED [] +synonym: "GM2 activator deficiency" RELATED [] +synonym: "GM2 gangliosidosis, AB variant" RELATED [] +synonym: "GM2-gangliosidosis, AB variant" RELATED [] synonym: "hexosaminidase activator deficiency" EXACT [OMIM:272750, Orphanet:309246] -synonym: "Tay-Sachs disease, AB variant" RELATED [OMIM:272750] +synonym: "Tay-Sachs disease, AB variant" RELATED [] synonym: "Tay-Sachs disease, variant AB" EXACT [DOID:4795] xref: DOID:4795 {source="MONDO:equivalentTo"} xref: GARD:17406 {source="MONDO:GARD"} @@ -222017,29 +222053,29 @@ subset: orphanet_rare {source="Orphanet:845"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "B variant GM2 gangliosidosis" RELATED [GARD:0007737] -synonym: "B variant GM2-gangliosidosis" RELATED [OMIM:272800] -synonym: "disease, Tay-Sachs" EXACT [DOID:3320] +synonym: "B variant GM2-gangliosidosis" RELATED [] +synonym: "disease, Tay-Sachs" EXACT [] synonym: "gangliosidosis GM2, type 1" RELATED [GARD:0007737] -synonym: "GM2 gangliosidosis, B, B1 variant" EXACT [Orphanet:845] +synonym: "GM2 gangliosidosis, B, B1 variant" EXACT [] synonym: "GM2 gangliosidosis, type 1" RELATED [GARD:0007737] -synonym: "GM2-gangliosidosis, adult chronic type" RELATED [OMIM:272800] -synonym: "GM2-gangliosidosis, several forms" EXACT [OMIM:272800, OMIM:genemap2] -synonym: "GM2-gangliosidosis, type 1" RELATED [OMIM:272800] -synonym: "GM2-gangliosidosis, variant B1" RELATED [OMIM:272800] -synonym: "Hex A pseudodeficiency" EXACT [OMIM:272800, OMIM:genemap2] -synonym: "hexa deficiency" RELATED [OMIM:272800] -synonym: "hexosaminidase A deficiency" EXACT [DOID:3320, Orphanet:845] -synonym: "hexosaminidase a deficiency" RELATED [OMIM:272800] -synonym: "hexosaminidase a deficiency, adult type" RELATED [OMIM:272800] +synonym: "GM2-gangliosidosis, adult chronic type" RELATED [] +synonym: "GM2-gangliosidosis, several forms" EXACT [] +synonym: "GM2-gangliosidosis, type 1" RELATED [] +synonym: "GM2-gangliosidosis, variant B1" RELATED [] +synonym: "Hex A pseudodeficiency" EXACT [] +synonym: "hexa deficiency" RELATED [] +synonym: "hexosaminidase A deficiency" EXACT [DOID:3320, icd11.foundation:215008783, OMIM:272800] +synonym: "hexosaminidase a deficiency" RELATED [] +synonym: "hexosaminidase a deficiency, adult type" RELATED [] synonym: "hexosaminidase alpha-subunit deficiency (variant B)" RELATED [GARD:0007737] synonym: "sphingolipidosis, Tay-Sachs" RELATED [GARD:0007737] -synonym: "Tay Sachs Disease" EXACT [NORD:1761] -synonym: "TAY-Sachs disease" RELATED [OMIM:272800] -synonym: "Tay-Sachs disease" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:272800] -synonym: "Tay-Sachs disease, juvenile" RELATED [OMIM:272800] -synonym: "Tay-Sachs disease, pseudo-Ab variant" RELATED [OMIM:272800] -synonym: "Tay-Sachs disease, variant B1" RELATED [OMIM:272800] -synonym: "TSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:272800] +synonym: "Tay Sachs Disease" EXACT [NCIT:C85184, NORD:1761] +synonym: "TAY-Sachs disease" RELATED [] +synonym: "Tay-Sachs disease" EXACT CLINGEN_LABEL [DOID:3320, ICD10CM:E75.02, icd11.foundation:215008783, MONDO:Lexical, NCIT:C85184, OMIM:272800, Orphanet:845] +synonym: "Tay-Sachs disease, juvenile" RELATED [] +synonym: "Tay-Sachs disease, pseudo-Ab variant" RELATED [] +synonym: "Tay-Sachs disease, variant B1" RELATED [] +synonym: "TSD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:3320 {source="MONDO:equivalentTo"} xref: GARD:7737 {source="MONDO:GARD"} xref: ICD10CM:E75.0 {source="Orphanet:845/ntbt", source="Orphanet:845/inclusion", source="Orphanet:845"} @@ -222080,10 +222116,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:3291"} subset: orphanet_rare {source="Orphanet:3291"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage" RELATED [OMIM:272950] -synonym: "TBSH" RELATED ABBREVIATION [OMIM:272950] +synonym: "craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage" RELATED [] +synonym: "TBSH" RELATED ABBREVIATION [] synonym: "Teebi Shaltout syndrome" RELATED [GARD:0005125] -synonym: "Teebi-Shaltout syndrome" EXACT [OMIM:272950] +synonym: "Teebi-Shaltout syndrome" EXACT [OMIM:272950, Orphanet:3291] xref: GARD:5125 {source="MONDO:GARD"} xref: MEDGEN:376472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536950 {source="MONDO:equivalentTo", source="Orphanet:3291", source="Orphanet:3291/e"} @@ -222103,9 +222139,9 @@ subset: gard_rare {source="GARD:5118", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:2731"} subset: rare -synonym: "taurodontia, absent teeth, and sparse hair" RELATED [OMIM:272980] +synonym: "taurodontia, absent teeth, and sparse hair" RELATED [] synonym: "taurodontia, absent teeth, sparse hair syndrome" RELATED [GARD:0005118] -synonym: "teeth, congenital absence of, with taurodontia and sparse hair" RELATED [OMIM:272980] +synonym: "teeth, congenital absence of, with taurodontia and sparse hair" RELATED [] xref: GARD:5118 {source="MONDO:GARD"} xref: MEDGEN:338570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536945 {source="Orphanet:2731", source="MONDO:equivalentTo", source="Orphanet:2731/e"} @@ -222142,7 +222178,7 @@ synonym: "non erupted teeth with maxillary hypoplasia and genu valgum" RELATED [ synonym: "Stoelinga de Koomen Davis syndrome" RELATED [GARD:0005027] synonym: "Stoelinga-de Koomen-Davis syndrome" EXACT [Orphanet:2972] synonym: "teeth noneruption of with maxillary hypoplasia and genu valgum" RELATED [GARD:0005127] -synonym: "teeth, noneruption of, with maxillary hypoplasia and genu valgum" RELATED [OMIM:273050] +synonym: "teeth, noneruption of, with maxillary hypoplasia and genu valgum" RELATED [] xref: GARD:5027 {source="MONDO:GARD"} xref: MEDGEN:341331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536952 {source="Orphanet:2972", source="Orphanet:2972/e"} @@ -222194,30 +222230,30 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:363504"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "embryonal cell carcinoma" RELATED [OMIM:273300] -synonym: "endodermal sinus tumor" RELATED [OMIM:273300] +synonym: "embryonal cell carcinoma" RELATED [] +synonym: "endodermal sinus tumor" RELATED [] synonym: "endodermal sinus tumour" RELATED OMO:0003005 [] synonym: "germ cell neoplasm of testis" EXACT [NCIT:C8591] synonym: "germ cell neoplasm of the testis" EXACT [NCIT:C8591] -synonym: "germ cell tumor of testis" EXACT [DOID:5557, MONDO:0018196, NCIT:C8591] +synonym: "germ cell tumor of testis" EXACT [DOID:5557, MONDO:0018196, NCIT:C8591, Orphanet:363504] synonym: "germ cell tumor of the testis" EXACT [NCIT:C8591] -synonym: "germ cell tumors, somatic" EXACT [OMIM:273300, OMIM:genemap2] +synonym: "germ cell tumors, somatic" EXACT [] synonym: "germ cell tumour of testis" EXACT OMO:0003005 [] synonym: "germ cell tumour of the testis" EXACT OMO:0003005 [] -synonym: "Male germ cell tumor" RELATED [OMIM:273300] -synonym: "male germ cell tumor, somatic" EXACT [OMIM:273300, OMIM:genemap2] +synonym: "Male germ cell tumor" RELATED [] +synonym: "male germ cell tumor, somatic" EXACT [] synonym: "Male germ cell tumour" RELATED OMO:0003005 [] -synonym: "nonseminomatous germ cell tumors" RELATED [OMIM:273300] +synonym: "nonseminomatous germ cell tumors" RELATED [] synonym: "nonseminomatous germ cell tumours" RELATED OMO:0003005 [] -synonym: "seminoma" RELATED [OMIM:273300] -synonym: "spermatocytic seminoma" RELATED [OMIM:273300] -synonym: "spermatocytic seminoma, somatic" EXACT [OMIM:273300, OMIM:genemap2] -synonym: "teratoma, testicular" RELATED [OMIM:273300] -synonym: "testicular germ cell cancer" RELATED [DOID:5557] -synonym: "testicular germ cell neoplasm" EXACT [DOID:5557, NCIT:C8591] +synonym: "seminoma" RELATED [] +synonym: "spermatocytic seminoma" RELATED [] +synonym: "spermatocytic seminoma, somatic" EXACT [] +synonym: "teratoma, testicular" RELATED [] +synonym: "testicular germ cell cancer" RELATED [] +synonym: "testicular germ cell neoplasm" EXACT [NCIT:C8591] synonym: "testicular germ cell neoplasms" EXACT [NCIT:C8591] synonym: "testicular germ cell tumor" EXACT [MONDO:Lexical, NCIT:C8591, OMIM:273300, Orphanet:363504] -synonym: "testicular tumor, somatic" EXACT [OMIM:273300, OMIM:genemap2] +synonym: "testicular tumor, somatic" EXACT [] synonym: "testis germ cell tumor" EXACT [MONDO:patterns/location] synonym: "testis germ cell tumour" EXACT OMO:0003005 [] synonym: "TGCT" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C8591, OMIM:273300] @@ -222272,9 +222308,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:3301"} subset: orphanet_rare {source="Orphanet:3301"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "TETAMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:273395] +synonym: "TETAMS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Tetraamelia multiple malformations X-linked" RELATED [GARD:0000386] -synonym: "TETRAAMELIA syndrome, autosomal recessive" RELATED [MONDO:Lexical, OMIM:273395] +synonym: "TETRAAMELIA syndrome, autosomal recessive" RELATED [MONDO:Lexical] synonym: "Zimmer phocomelia" EXACT [Orphanet:3301] synonym: "Zimmer Taub Sova syndrome" RELATED [GARD:0000386] xref: DOID:0112191 {source="MONDO:equivalentTo"} @@ -222307,7 +222343,7 @@ subset: rare synonym: "Freire-Maia odontotrichomelic syndrome" EXACT [MONDO:0023191] synonym: "Freire-Maia syndrome" EXACT [Orphanet:2723] synonym: "odontotrichomelic hypohidrotic dysplasia" EXACT [GARD:0002381, MESH:C535637] -synonym: "odontotrichomelic syndrome" EXACT [OMIM:273400] +synonym: "odontotrichomelic syndrome" EXACT [icd11.foundation:1999951139, OMIM:273400, Orphanet:2723] synonym: "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" EXACT [OMIM:273400] xref: GARD:2381 {source="MONDO:GARD"} xref: icd11.foundation:1999951139 {source="MONDO:equivalentTo"} @@ -222343,7 +222379,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5160/thalami id: MONDO:0010113 name: obsolete thalidomide susceptibility comment: Reason: out of scope. Term to consider: None -synonym: "thalidomide susceptibility" EXACT [OMIM:273600] +synonym: "thalidomide susceptibility" EXACT [] xref: OMIM:273600 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000231 OMO:0001000 @@ -222356,7 +222392,7 @@ name: thanatophoric dysplasia, Glasgow variant subset: gard_rare {source="GARD:5165", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "neonatally lethal short-limb skeletal dysplasia, Glasgow type" RELATED [OMIM:273680] +synonym: "neonatally lethal short-limb skeletal dysplasia, Glasgow type" RELATED [] synonym: "thanatophoric dysplasia, Glasgow variant" EXACT [OMIM:273680] xref: GARD:5165 {source="MONDO:GARD"} xref: MEDGEN:376457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -222375,7 +222411,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1861"} subset: orphanet_rare {source="Orphanet:1861"} subset: rare synonym: "thoracic dysplasia hydrocephalus syndrome" RELATED [GARD:0005180] -synonym: "thoracic dysplasia-hydrocephalus syndrome" EXACT [OMIM:273730] +synonym: "thoracic dysplasia-hydrocephalus syndrome" EXACT [OMIM:273730, Orphanet:1861] xref: GARD:5180 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1861/ntbt", source="Orphanet:1861"} xref: MEDGEN:338562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -222394,11 +222430,11 @@ subset: ordo_disorder {source="Orphanet:1803"} subset: orphanet_rare {source="Orphanet:1803"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "'thoraco-limb' dysplasia" RELATED [OMIM:273740] +synonym: "'thoraco-limb' dysplasia" RELATED [] synonym: "Rivera-Perez-Salas syndrome" EXACT [Orphanet:1803] synonym: "thoraco-limb dysplasia" RELATED [GARD:0010612] synonym: "thoracolimb dysplasia, Rivera type" EXACT [Orphanet:1803] -synonym: "thoracomelic dysplasia" EXACT [OMIM:273740] +synonym: "thoracomelic dysplasia" EXACT [icd11.foundation:1284518024, OMIM:273740, Orphanet:1803] xref: GARD:10612 {source="MONDO:GARD"} xref: ICD10CM:Q77.2 {source="Orphanet:1803/attributed", source="Orphanet:1803/ntbt", source="Orphanet:1803"} xref: icd11.foundation:1284518024 {source="MONDO:equivalentTo"} @@ -222418,19 +222454,19 @@ def: "Any 3-M syndrome in which the cause of the disease is a mutation in the CU subset: gard_rare {source="GARD:15239", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "3-M syndrome 1" EXACT [OMIM:273750, OMIM:genemap2] +synonym: "3-M syndrome 1" EXACT [] synonym: "3-M syndrome caused by mutation in CUL7" EXACT [] synonym: "3-M syndrome caused by mutation in Cul7" EXACT [MONDO:design_pattern] -synonym: "3M syndrome" RELATED [OMIM:273750] -synonym: "3M1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:273750] +synonym: "3M syndrome" RELATED [] +synonym: "3M1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CUL7 3-M syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Cul7 3-M syndrome" EXACT [MONDO:design_pattern] -synonym: "Dolichospondylic dysplasia" RELATED [OMIM:273750] -synonym: "gloomy face syndrome" RELATED [OMIM:273750] -synonym: "Le Merrer syndrome" RELATED [OMIM:273750] +synonym: "Dolichospondylic dysplasia" RELATED [] +synonym: "gloomy face syndrome" RELATED [] +synonym: "Le Merrer syndrome" RELATED [] synonym: "three M syndrome 1" EXACT [MONDO:Lexical, OMIM:273750] -synonym: "three M syndrome type 1" EXACT [MONDORULE:1, OMIM:273750] -synonym: "Yakut short stature syndrome" RELATED [OMIM:273750] +synonym: "three M syndrome type 1" EXACT [MONDORULE:1] +synonym: "Yakut short stature syndrome" RELATED [] xref: GARD:15239 {source="MONDO:GARD"} xref: MEDGEN:395592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:273750 {source="MONDO:equivalentTo"} @@ -222451,7 +222487,7 @@ name: inherited threoninemia subset: gard_rare {source="MONDO:GARD"} subset: n_of_one {source="OMIM:273770"} subset: rare -synonym: "hyperthreoninemia" BROAD [OMIM:273770] +synonym: "hyperthreoninemia" BROAD [] synonym: "threoninemia" EXACT [OMIM:273770] xref: MEDGEN:336439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:273770 {source="MONDO:equivalentTo"} @@ -222479,7 +222515,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "THC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:273900] synonym: "thrombocytopenia 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:273900] -synonym: "thrombocytopenia, autosomal recessive, 3" RELATED [OMIM:273900] +synonym: "thrombocytopenia, autosomal recessive, 3" RELATED [] xref: GARD:18288 {source="MONDO:GARD"} xref: MEDGEN:437174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567487 {source="MONDO:equivalentTo"} @@ -222505,17 +222541,17 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome" EXACT [DECIPHER:64] synonym: "absent radii and thrombocytopenia" RELATED [GARD:0005116] -synonym: "chromosome 1q21.1 deletion syndrome" RELATED EXCLUDE [DOID:14699] -synonym: "chromosome 1Q21.1 deletion syndrome, 200-Kb" RELATED [OMIM:274000] -synonym: "radial aplasia-thrombocytopenia syndrome" EXACT [NCIT:C99038] -synonym: "TAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:274000] -synonym: "TAR syndrome" EXACT [Orphanet:3320] -synonym: "Tar syndrome" RELATED [OMIM:274000] +synonym: "chromosome 1q21.1 deletion syndrome" RELATED EXCLUDE [] +synonym: "chromosome 1Q21.1 deletion syndrome, 200-Kb" RELATED [] +synonym: "radial aplasia-thrombocytopenia syndrome" EXACT [DOID:14699, NCIT:C99038] +synonym: "TAR" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "TAR syndrome" EXACT [NCIT:C99038, OMIM:274000, Orphanet:3320] +synonym: "Tar syndrome" RELATED [] synonym: "thrombocytopenia absent radii" RELATED [GARD:0005116] synonym: "Thrombocytopenia Absent Radius Syndrome" EXACT [NORD:1768] synonym: "thrombocytopenia absent radius syndrome" RELATED [GARD:0005116] synonym: "thrombocytopenia with absent radii (TAR) syndrome" EXACT [DOID:14699] -synonym: "thrombocytopenia-absent radius syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:274000] +synonym: "thrombocytopenia-absent radius syndrome" EXACT CLINGEN_LABEL [DOID:14699, MONDO:Lexical, NCIT:C99038, OMIM:274000, Orphanet:3320] xref: DECIPHER:64 {source="MONDO:equivalentTo"} xref: DOID:14699 {source="MONDO:equivalentTo"} xref: GARD:5116 {source="MONDO:GARD"} @@ -222551,23 +222587,23 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93583"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital ADAMTS-13 deficiency" EXACT [Orphanet:93583] +synonym: "congenital ADAMTS-13 deficiency" EXACT [NCIT:C131657, Orphanet:93583] synonym: "congenital ADAMTS13 deficiency" EXACT [NCIT:C131657] -synonym: "congenital thrombotic thrombocytopenic purpura" EXACT CLINGEN_LABEL [] -synonym: "congenital TTP" EXACT [Orphanet:93583] +synonym: "congenital thrombotic thrombocytopenic purpura" EXACT CLINGEN_LABEL [NCIT:C131657, Orphanet:93583] +synonym: "congenital TTP" EXACT [NCIT:C131657, Orphanet:93583] synonym: "familial TTP" EXACT [Orphanet:93583] synonym: "hereditary thrombotic thrombocytopenic purpura" EXACT [MONDO:patterns/hereditary] synonym: "Microangiopathic hemolytic Anaemia" RELATED OMO:0003005 [] -synonym: "Microangiopathic hemolytic Anemia" RELATED [OMIM:274150] -synonym: "Microangiopathic hemolytic Anemia, congenital" RELATED [OMIM:274150] -synonym: "Schulman-Upshaw syndrome" RELATED [OMIM:274150] -synonym: "thrombotic microangiopathy, familial" RELATED [OMIM:274150] -synonym: "thrombotic thrombocytopenic purpura, congenital" RELATED [MONDO:Lexical, OMIM:274150] -synonym: "thrombotic thrombocytopenic purpura, familial" RELATED [OMIM:274150] -synonym: "thrombotic thrombocytopenic purpura, hereditary" EXACT [OMIM:274150, OMIM:genemap2] -synonym: "TTP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:274150] +synonym: "Microangiopathic hemolytic Anemia" RELATED [] +synonym: "Microangiopathic hemolytic Anemia, congenital" RELATED [] +synonym: "Schulman-Upshaw syndrome" RELATED [] +synonym: "thrombotic microangiopathy, familial" RELATED [] +synonym: "thrombotic thrombocytopenic purpura, congenital" RELATED [MONDO:Lexical] +synonym: "thrombotic thrombocytopenic purpura, familial" RELATED [] +synonym: "thrombotic thrombocytopenic purpura, hereditary" EXACT [OMIM:274150] +synonym: "TTP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TTP, congenital" RELATED [GARD:0009430] -synonym: "Upshaw Factor, deficiency of" RELATED [OMIM:274150] +synonym: "Upshaw Factor, deficiency of" RELATED [] synonym: "Upshaw-Schulman syndrome" EXACT [OMIM:274150, Orphanet:93583] synonym: "USS" RELATED ABBREVIATION [GARD:0009430] xref: GARD:9430 {source="MONDO:GARD"} @@ -222599,7 +222635,7 @@ def: "OBSOLETE. An exceedingly rare, autosomal recessive immune disease characte subset: ordo_disorder {source="Orphanet:2951"} subset: ordo_malformation_syndrome {source="Orphanet:2951"} subset: otar {source="MONDO:OTAR"} -synonym: "thumb agenesis, short stature, and immunodeficiency" RELATED [OMIM:274190] +synonym: "thumb agenesis, short stature, and immunodeficiency" RELATED [] xref: ICD10CM:D82.8 {source="Orphanet:2951/attributed", source="Orphanet:2951/ntbt", source="Orphanet:2951"} xref: MESH:C564770 {source="MONDO:obsoleteEquivalent"} xref: OMIM:274190 {source="MONDO:obsoleteEquivalent", source="Orphanet:2951", source="Orphanet:2951/e"} @@ -222629,7 +222665,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2489"} subset: orphanet_rare {source="Orphanet:2489"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" RELATED [OMIM:274205] +synonym: "thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness" RELATED [] xref: GARD:16602 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2489/attributed", source="Orphanet:2489/ntbt", source="Orphanet:2489"} xref: MEDGEN:376448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -222660,7 +222696,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary thymoma (disease)" EXACT [MONDO:patterns/hereditary] -synonym: "thymic neoplasia" RELATED [OMIM:274230] +synonym: "thymic neoplasia" RELATED [] synonym: "thymoma, familial" EXACT [OMIM:274230] xref: MEDGEN:376447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564767 {source="MONDO:equivalentTo"} @@ -222707,7 +222743,7 @@ subset: orphanet_rare {source="Orphanet:3326"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)" RELATED [GARD:0005202] -synonym: "thymic-renal-anal-lung dysplasia" EXACT [OMIM:274265] +synonym: "thymic-renal-anal-lung dysplasia" EXACT [OMIM:274265, Orphanet:3326] xref: GARD:5202 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3326", source="Orphanet:3326/attributed", source="Orphanet:3326/ntbt"} xref: MEDGEN:336425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -222729,17 +222765,17 @@ subset: ordo_disorder {source="Orphanet:1675"} subset: orphanet_rare {source="Orphanet:1675"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dihydropyrimidine dehydrogenase deficiency" EXACT [OMIM:274270] -synonym: "dihydrouracil dehydrogenase deficiency" EXACT [DOID:14218, NCIT:C3964] -synonym: "DPD deficiency" RELATED [OMIM:274270] -synonym: "Dpyd deficiency" RELATED [OMIM:274270] -synonym: "DYPD deficiency" EXACT [NCIT:C84672] -synonym: "familial pyrimidinaemia" EXACT [DOID:14218] +synonym: "dihydropyrimidine dehydrogenase deficiency" EXACT [DOID:14218, icd11.foundation:701689290, NCIT:C84672, OMIM:274270, Orphanet:1675] +synonym: "dihydrouracil dehydrogenase deficiency" EXACT [DOID:14218, icd11.foundation:701689290, NCIT:C84672] +synonym: "DPD deficiency" RELATED [] +synonym: "Dpyd deficiency" RELATED [] +synonym: "DYPD deficiency" EXACT [] +synonym: "familial pyrimidinaemia" EXACT [DOID:14218, icd11.foundation:701689290] synonym: "familial pyrimidinemia" EXACT [Orphanet:1675] synonym: "hereditary thymine-uraciluria" RELATED [GARD:0000019] -synonym: "pyrimidinemia, familial" RELATED [OMIM:274270] -synonym: "thymine-uracilurea" EXACT [DOID:14218] -synonym: "thymine-Uraciluria, hereditary" RELATED [OMIM:274270] +synonym: "pyrimidinemia, familial" RELATED [] +synonym: "thymine-uracilurea" EXACT [DOID:14218, NCIT:C84672] +synonym: "thymine-Uraciluria, hereditary" RELATED [] xref: DOID:14218 {source="MONDO:equivalentTo"} xref: GARD:19 {source="MONDO:GARD"} xref: ICD10CM:E79.8 {source="Orphanet:1675/attributed", source="Orphanet:1675/ntbt", source="Orphanet:1675"} @@ -222769,16 +222805,16 @@ def: "A rare, autosomal recessive inherited disorder usually caused by mutations subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "GRTH" RELATED ABBREVIATION [GARD:0000301, MONDO:Lexical, OMIM:274300] -synonym: "Gthr" RELATED [OMIM:274300] -synonym: "Refetoff syndrome" RELATED [GARD:0000301, OMIM:274300] +synonym: "GRTH" RELATED ABBREVIATION [GARD:0000301, MONDO:Lexical] +synonym: "Gthr" RELATED [] +synonym: "Refetoff syndrome" RELATED [GARD:0000301] synonym: "THRB" RELATED ABBREVIATION [GARD:0000301] synonym: "thyroid hormone receptor BETA" RELATED [GARD:0000301] -synonym: "thyroid hormone resistance" BROAD [NCIT:C85191] -synonym: "thyroid hormone resistance syndrome" BROAD [NCIT:C85191] -synonym: "thyroid hormone resistance, autosomal recessive" EXACT [OMIM:274300, OMIM:genemap2] +synonym: "thyroid hormone resistance" BROAD [] +synonym: "thyroid hormone resistance syndrome" BROAD [] +synonym: "thyroid hormone resistance, autosomal recessive" EXACT [] synonym: "thyroid hormone resistance, generalized, autosomal recessive" EXACT [MONDO:Lexical, OMIM:274300] -synonym: "thyroid hormone unresponsiveness" RELATED [OMIM:274300] +synonym: "thyroid hormone unresponsiveness" RELATED [] xref: HGNC:11799 {source="GARD:0000301"} xref: MEDGEN:483749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567936 {source="MONDO:equivalentTo"} @@ -222805,9 +222841,9 @@ subset: ordo_disorder {source="Orphanet:95716"} subset: orphanet_rare {source="Orphanet:95716"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dyshormonogenesis" BROAD [NCIT:C121751] +synonym: "dyshormonogenesis" BROAD [] synonym: "nongoitrous hyperthyrotropinemia" EXACT [https://orcid.org/0000-0001-7451-4467, https://orcid.org/0000-0002-0736-9199] -synonym: "thyroid dyshormonogenesis" EXACT [Orphanet:95716] +synonym: "thyroid dyshormonogenesis" EXACT [NCIT:C121751, OMIMPS:274400, Orphanet:95716] xref: DOID:0112183 {source="MONDO:equivalentTo"} xref: GARD:16843 {source="MONDO:GARD"} xref: ICD10CM:E03.0 {source="Orphanet:95716/attributed", source="Orphanet:95716/ntbt", source="Orphanet:95716"} @@ -222834,12 +222870,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "familial thyroid dyshormonogenesis caused by mutation in TPO" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 2A" EXACT [OMIM:274500] -synonym: "iodide peroxidase deficiency" RELATED [OMIM:274500] -synonym: "TDH2A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274500] -synonym: "thyroid dyshormonogenesis 2A" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:274500] -synonym: "thyroid dyshormonogenesis type 2A" EXACT [MONDORULE:4, OMIM:274500] +synonym: "iodide peroxidase deficiency" RELATED [] +synonym: "TDH2A" EXACT ABBREVIATION [DOID:0112186, MONDO:Lexical, OMIM:274500] +synonym: "thyroid dyshormonogenesis 2A" EXACT CLINGEN_LABEL [DOID:0112186, MONDO:Lexical, OMIM:274500] +synonym: "thyroid dyshormonogenesis type 2A" EXACT [MONDORULE:4] synonym: "thyroid hormonogenesis, genetic defect in, 2A" EXACT [OMIM:274500] -synonym: "thyroid peroxidase deficiency" RELATED [OMIM:274500] +synonym: "thyroid peroxidase deficiency" RELATED [] synonym: "TPO familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112186 {source="MONDO:equivalentTo"} xref: GARD:18189 {source="MONDO:GARD"} @@ -222877,8 +222913,8 @@ synonym: "deafness with goitre" EXACT OMO:0003005 [] synonym: "genetic defect in thyroid hormonogenesis 2B" EXACT [DOID:0060744] synonym: "goiter-deafness syndrome" EXACT [DOID:0060744, OMIM:274600, Orphanet:705] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 2B" EXACT [OMIM:274600] -synonym: "PDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:274600] -synonym: "Pendred syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:274600] +synonym: "PDS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Pendred syndrome" EXACT CLINGEN_LABEL [DOID:0060744, icd11.foundation:1156056623, MONDO:Lexical, NCIT:C121745, OMIM:274600, Orphanet:705] synonym: "TDH2B" EXACT ABBREVIATION [DOID:0060744] synonym: "thyroid dyshormonogenesis 2B" EXACT [DOID:0060744, OMIM:274600] synonym: "thyroid hormonogenesis, genetic defect in, 2B" EXACT [OMIM:274600] @@ -222911,10 +222947,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "familial thyroid dyshormonogenesis caused by mutation in TG" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 3" EXACT [OMIM:274700] -synonym: "TDH3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274700] +synonym: "TDH3" EXACT ABBREVIATION [DOID:0112187, MONDO:Lexical, OMIM:274700] synonym: "TG familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "thyroid dyshormonogenesis 3" EXACT [MONDO:Lexical, OMIM:274700] -synonym: "thyroid dyshormonogenesis type 3" EXACT [MONDORULE:1, OMIM:274700] +synonym: "thyroid dyshormonogenesis 3" EXACT [DOID:0112187, MONDO:Lexical, OMIM:274700] +synonym: "thyroid dyshormonogenesis type 3" EXACT [MONDORULE:1] synonym: "thyroid hormonogenesis, genetic defect in, 3" EXACT [OMIM:274700] xref: DOID:0112187 {source="MONDO:equivalentTo"} xref: GARD:18190 {source="MONDO:GARD"} @@ -222936,14 +222972,14 @@ def: "Any familial thyroid dyshormonogenesis in which the cause of the disease i subset: gard_rare {source="GARD:18191", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deiodinase deficiency" RELATED [OMIM:274800] +synonym: "deiodinase deficiency" RELATED [] synonym: "familial thyroid dyshormonogenesis caused by mutation in IYD" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 4" EXACT [OMIM:274800] -synonym: "iodotyrosine dehalogenase deficiency" RELATED [OMIM:274800] +synonym: "iodotyrosine dehalogenase deficiency" RELATED [] synonym: "IYD familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "TDH4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274800] -synonym: "thyroid dyshormonogenesis 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:274800] -synonym: "thyroid dyshormonogenesis type 4" EXACT [MONDORULE:1, OMIM:274800] +synonym: "TDH4" EXACT ABBREVIATION [DOID:0112188, MONDO:Lexical, OMIM:274800] +synonym: "thyroid dyshormonogenesis 4" EXACT CLINGEN_LABEL [DOID:0112188, MONDO:Lexical, OMIM:274800] +synonym: "thyroid dyshormonogenesis type 4" EXACT [MONDORULE:1] synonym: "thyroid hormonogenesis, genetic defect in, 4" EXACT [OMIM:274800] xref: DOID:0112188 {source="MONDO:equivalentTo"} xref: GARD:18191 {source="MONDO:GARD"} @@ -222968,9 +223004,9 @@ subset: rare synonym: "DUOXA2 familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial thyroid dyshormonogenesis caused by mutation in DUOXA2" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 5" EXACT [OMIM:274900] -synonym: "TDH5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274900] -synonym: "thyroid dyshormonogenesis 5" EXACT [MONDO:Lexical, OMIM:274900] -synonym: "thyroid dyshormonogenesis type 5" EXACT [MONDORULE:1, OMIM:274900] +synonym: "TDH5" EXACT ABBREVIATION [DOID:0112184, MONDO:Lexical, OMIM:274900] +synonym: "thyroid dyshormonogenesis 5" EXACT [DOID:0112184, MONDO:Lexical, OMIM:274900] +synonym: "thyroid dyshormonogenesis type 5" EXACT [MONDORULE:1] synonym: "thyroid hormonogenesis, genetic defect in, 5" EXACT [OMIM:274900] xref: DOID:0112184 {source="MONDO:equivalentTo"} xref: GARD:18192 {source="MONDO:GARD"} @@ -222991,10 +223027,10 @@ name: thyrotoxicosis def: "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis." [NCIT:P378] subset: otar {source="MONDO:OTAR"} subset: predisposition -synonym: "Graves disease, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:275000] -synonym: "GRD" RELATED ABBREVIATION [OMIM:275000] -synonym: "GRD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:275000] -synonym: "hyperthyroidism, autoimmune" RELATED [OMIM:275000] +synonym: "Graves disease, susceptibility to, 1" RELATED [MONDO:Lexical] +synonym: "GRD" RELATED ABBREVIATION [] +synonym: "GRD1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperthyroidism, autoimmune" RELATED [] xref: DOID:7997 {source="MONDO:equivalentTo"} xref: EFO:0009190 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E05.9 {source="DOID:7997"} @@ -223028,18 +223064,18 @@ subset: orphanet_rare {source="Orphanet:90674"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CHNG4" EXACT ABBREVIATION [DOID:0070123, MONDO:Lexical, OMIM:275100] -synonym: "congenital nongoitrous hypothyroidism 4" RELATED [DOID:0070123] -synonym: "hypothyroidism, congenital, nongoitrous 4" EXACT [OMIM:275100, OMIM:genemap2] -synonym: "hypothyroidism, congenital, nongoitrous, 4" RELATED [MONDO:Lexical, OMIM:275100] -synonym: "hypothyroidism, congenital, nongoitrous, type 4" EXACT [MONDORULE:1, OMIM:275100] +synonym: "congenital nongoitrous hypothyroidism 4" RELATED [] +synonym: "hypothyroidism, congenital, nongoitrous 4" EXACT [] +synonym: "hypothyroidism, congenital, nongoitrous, 4" RELATED [MONDO:Lexical] +synonym: "hypothyroidism, congenital, nongoitrous, type 4" EXACT [MONDORULE:1] synonym: "isolated thyrotropin deficiency" EXACT [DOID:0070123, Orphanet:90674] synonym: "isolated TSH deficiency" EXACT [Orphanet:90674] -synonym: "pituitary cretinism" RELATED DEPRECATED [OMIM:275100] -synonym: "thyroid-stimulating hormone deficiency" RELATED [OMIM:275100] +synonym: "pituitary cretinism" RELATED DEPRECATED [] +synonym: "thyroid-stimulating hormone deficiency" RELATED [] synonym: "thyroid-stimulating hormone, deficiency of" RELATED [GARD:0010129] -synonym: "thyrotropin deficiency, isolated" RELATED [OMIM:275100] -synonym: "thyrotropin, biologically inactive" RELATED [OMIM:275100] -synonym: "TSH deficiency" RELATED [OMIM:275100] +synonym: "thyrotropin deficiency, isolated" RELATED [] +synonym: "thyrotropin, biologically inactive" RELATED [] +synonym: "TSH deficiency" RELATED [] xref: DOID:0070123 {source="MONDO:equivalentTo"} xref: GARD:10129 {source="MONDO:GARD"} xref: ICD10CM:E03.1 {source="DOID:0070123", source="Orphanet:90674", source="Orphanet:90674/attributed", source="Orphanet:90674/ntbt"} @@ -223064,7 +223100,7 @@ subset: ordo_disorder {source="Orphanet:238670"} subset: orphanet_rare {source="Orphanet:238670"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypothalamic hypothyroidism" RELATED [OMIM:275120] +synonym: "hypothalamic hypothyroidism" RELATED [] synonym: "isolated prothyroliberin deficiency" EXACT [Orphanet:238670] synonym: "isolated protirelin deficiency" EXACT [Orphanet:238670] synonym: "isolated thyroliberin deficiency" EXACT [Orphanet:238670] @@ -223073,8 +223109,8 @@ synonym: "isolated TRF deficiency" EXACT [Orphanet:238670] synonym: "isolated TRH deficiency" EXACT [Orphanet:238670] synonym: "isolated TSH-releasing factor deficiency" EXACT [Orphanet:238670] synonym: "tertiary hypothyroidism" EXACT [NCIT:C121741] -synonym: "thyrotropin-releasing hormone deficiency" RELATED [OMIM:275120] -synonym: "TRH deficiency" RELATED [OMIM:275120] +synonym: "thyrotropin-releasing hormone deficiency" RELATED [] +synonym: "TRH deficiency" RELATED [] xref: GARD:17179 {source="MONDO:GARD"} xref: ICD10CM:E03.1 {source="Orphanet:238670/attributed", source="Orphanet:238670/ntbt", source="Orphanet:238670"} xref: ICD9:253.4 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -223112,15 +223148,15 @@ subset: orphanet_rare {source="Orphanet:90673"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CHNG1" EXACT ABBREVIATION [DOID:0070126, MONDO:Lexical, OMIM:275200] -synonym: "congenital nongoitrous hypothyroidism 1" RELATED [DOID:0070126] -synonym: "hypothyroidism due to unresponsiveness to thyrotropin" RELATED [OMIM:275200] -synonym: "hypothyroidism, congenital, due to TSH resistance" RELATED [OMIM:275200] -synonym: "hypothyroidism, congenital, nongoitrous, 1" RELATED [MONDO:Lexical, OMIM:275200] -synonym: "hypothyroidism, congenital, nongoitrous, type 1" EXACT [MONDORULE:1, OMIM:275200] -synonym: "hypothyroidism, Nonautoimmune" RELATED [OMIM:275200] -synonym: "thyroid-stimulating hormone, resistance to" RELATED [OMIM:275200] -synonym: "thyrotropin resistance" RELATED [OMIM:275200] -synonym: "TSH resistance" EXACT [DOID:0070126] +synonym: "congenital nongoitrous hypothyroidism 1" RELATED [] +synonym: "hypothyroidism due to unresponsiveness to thyrotropin" RELATED [] +synonym: "hypothyroidism, congenital, due to TSH resistance" RELATED [] +synonym: "hypothyroidism, congenital, nongoitrous, 1" RELATED [MONDO:Lexical] +synonym: "hypothyroidism, congenital, nongoitrous, type 1" EXACT [MONDORULE:1] +synonym: "hypothyroidism, Nonautoimmune" RELATED [] +synonym: "thyroid-stimulating hormone, resistance to" RELATED [] +synonym: "thyrotropin resistance" RELATED [] +synonym: "TSH resistance" EXACT [DOID:0070126, OMIM:275200] xref: DOID:0070126 {source="MONDO:equivalentTo"} xref: GARD:16793 {source="MONDO:GARD"} xref: ICD10CM:E03.1 {source="DOID:0070126", source="Orphanet:90673", source="Orphanet:90673/attributed", source="Orphanet:90673/ntbt"} @@ -223157,13 +223193,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "absence of tibia" RELATED [GARD:0008707] synonym: "bilateral absence of the tibia" RELATED [GARD:0008707] -synonym: "congenital absence of tibia" EXACT [Orphanet:93322] -synonym: "congenital aplasia and dysplasia of the tibia with intact fibula" EXACT [Orphanet:93322] -synonym: "congenital longitudinal deficiency of the tibia" EXACT [Orphanet:93322] -synonym: "Thm" RELATED [OMIM:275220] -synonym: "tibia, absence of" RELATED [OMIM:275220] -synonym: "tibial hemimelia" EXACT [OMIM:275220] -synonym: "tibial longitudinal meromelia" EXACT [Orphanet:93322] +synonym: "congenital absence of tibia" EXACT [icd11.foundation:1111258427] +synonym: "congenital aplasia and dysplasia of the tibia with intact fibula" EXACT [] +synonym: "congenital longitudinal deficiency of the tibia" EXACT [] +synonym: "Thm" RELATED [] +synonym: "tibia, absence of" RELATED [] +synonym: "tibial hemimelia" EXACT [icd11.foundation:1111258427, OMIM:275220] +synonym: "tibial longitudinal meromelia" EXACT [] xref: GARD:8707 {source="MONDO:GARD"} xref: ICD10CM:Q72.5 {source="Orphanet:93322", source="Orphanet:93322/e", source="Orphanet:93322/specific"} xref: icd11.foundation:1111258427 {source="Orphanet:93322", source="MONDO:equivalentTo"} @@ -223200,7 +223236,7 @@ subset: orphanet_rare {source="Orphanet:499"} subset: rare synonym: "susceptibility to Tinea imbricata" RELATED [GARD:0003109] synonym: "Tinea capitis profunda" RELATED [GARD:0003109] -synonym: "TINEA imbricata, susceptibility to" RELATED [OMIM:275240] +synonym: "TINEA imbricata, susceptibility to" RELATED [] synonym: "trichophytia profunda barbae" RELATED [GARD:0003109] synonym: "trichophytia profunda capitis" RELATED [GARD:0003109] synonym: "Trichophyton infection" RELATED [GARD:0003109] @@ -223239,8 +223275,8 @@ synonym: "congenital tracheobronchomegaly" EXACT [Orphanet:3347] synonym: "idiopathic tracheobronchomegaly" EXACT [Orphanet:3347] synonym: "Mounier Kuhn syndrome" RELATED [GARD:0003793] synonym: "Mounier-Kuhn syndrome" EXACT [NCIT:C85196] -synonym: "Mounier-Kühn syndrome" RELATED [Orphanet:3347] -synonym: "tracheobronchomegaly" EXACT [OMIM:275300, Orphanet:3347] +synonym: "Mounier-Kühn syndrome" RELATED [] +synonym: "tracheobronchomegaly" EXACT [NCIT:C85196, OMIM:275300, Orphanet:3347] xref: GARD:3793 {source="MONDO:GARD"} xref: ICD10CM:J98.0 {source="Orphanet:3347/ntbt", source="Orphanet:3347"} xref: ICD9:748.3 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -223265,12 +223301,12 @@ subset: orphanet_rare {source="Orphanet:859"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "inherited deficiency of transcobalamin" EXACT [Orphanet:859] -synonym: "TC 2 deficiency" RELATED [OMIM:275350] -synonym: "TCN2 deficiency" EXACT [DOID:0050818] -synonym: "Tcn2 deficiency" RELATED [OMIM:275350] -synonym: "transcobalamin 2 deficiency" RELATED [OMIM:275350] -synonym: "transcobalamin deficiency" RELATED [Orphanet:859] -synonym: "transcobalamin II deficiency" EXACT CLINGEN_LABEL [OMIM:275350, Orphanet:859] +synonym: "TC 2 deficiency" RELATED [] +synonym: "TCN2 deficiency" EXACT [DOID:0050818, OMIM:275350] +synonym: "Tcn2 deficiency" RELATED [] +synonym: "transcobalamin 2 deficiency" RELATED [] +synonym: "transcobalamin deficiency" RELATED [] +synonym: "transcobalamin II deficiency" EXACT CLINGEN_LABEL [DOID:0050818, ICD10CM:D51.2, NCIT:C142806, Orphanet:859] xref: DOID:0050818 {source="MONDO:equivalentTo"} xref: GARD:12338 {source="MONDO:GARD"} xref: ICD10CM:D51.2 {source="MONDO:equivalentTo", source="Orphanet:859", source="Orphanet:859/attributed", source="Orphanet:859/ntbt"} @@ -223294,16 +223330,16 @@ subset: gard_rare {source="GARD:8503", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoma of the head and neck" NARROW [DOID:5520, NCIT:C35850] +synonym: "carcinoma of the head and neck" NARROW [] synonym: "craniocervical region squamous cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "head and neck squamous cell carcinoma" EXACT [NCIT:C34447, Orphanet:67037] -synonym: "head and neck squamous cell carcinoma, NOS" RELATED EXCLUDE [NCIT:C34447] -synonym: "HNSCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:275355, Orphanet:67037] +synonym: "head and neck squamous cell carcinoma" EXACT [DOID:5520, NCIT:C34447] +synonym: "head and neck squamous cell carcinoma, NOS" RELATED EXCLUDE [] +synonym: "HNSCC" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C34447, OMIM:275355] synonym: "SCCHN" EXACT ABBREVIATION [NCIT:C34447] synonym: "squamous cell carcinoma of head and neck" EXACT [NCIT:C34447] synonym: "squamous cell carcinoma of the head and neck" EXACT [DOID:5520, NCIT:C34447] -synonym: "squamous cell carcinoma, head and neck" RELATED [MONDO:Lexical, OMIM:275355] -synonym: "squamous cell carcinoma, head and neck, somatic" EXACT [OMIM:275355, OMIM:genemap2] +synonym: "squamous cell carcinoma, head and neck" RELATED [MONDO:Lexical] +synonym: "squamous cell carcinoma, head and neck, somatic" EXACT [] synonym: "squamous cell carcinomas of head and neck" EXACT [DOID:5520] xref: DOID:5520 {source="MONDO:equivalentTo", source="EFO:0000181"} xref: EFO:0000181 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -223349,15 +223385,15 @@ subset: orphanet_rare {source="Orphanet:3363"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "eyelashes, long with intellectual disability" RELATED [GARD:0005266] -synonym: "eyelashes, long, with intellectual disability" RELATED [OMIM:275400] -synonym: "eyelashes, long, with mental retardation" RELATED DEPRECATED [OMIM:275400] -synonym: "long eyelashes-intellectual disability syndrome" EXACT [Orphanet:3363] +synonym: "eyelashes, long, with intellectual disability" RELATED [] +synonym: "eyelashes, long, with mental retardation" RELATED DEPRECATED [] +synonym: "long eyelashes-intellectual disability syndrome" EXACT [DOID:0111271, Orphanet:3363] synonym: "Oliver McFarlane syndrome" RELATED [GARD:0005266] -synonym: "Oliver-McFarlane syndrome" EXACT [MONDO:Lexical, OMIM:275400, Orphanet:3363] -synonym: "OMCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:275400] +synonym: "Oliver-McFarlane syndrome" EXACT [DOID:0111271, MONDO:Lexical, OMIM:275400, Orphanet:3363] +synonym: "OMCS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina" RELATED [GARD:0005266] -synonym: "trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina" RELATED [OMIM:275400] -synonym: "trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina" RELATED DEPRECATED [OMIM:275400] +synonym: "trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina" RELATED [] +synonym: "trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina" RELATED DEPRECATED [] xref: DOID:0111271 {source="MONDO:equivalentTo"} xref: GARD:5266 {source="MONDO:GARD"} xref: MEDGEN:338532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -223378,7 +223414,7 @@ subset: ordo_disorder {source="Orphanet:3355"} subset: ordo_malformation_syndrome {source="Orphanet:3355"} subset: orphanet_rare {source="Orphanet:3355"} subset: rare -synonym: "trichoodontoonychial dysplasia with bone deficiency" RELATED [OMIM:275450] +synonym: "trichoodontoonychial dysplasia with bone deficiency" RELATED [] synonym: "trichoodontoonychial dysplasia with bone deficiency in frontoparietal region" EXACT [Orphanet:3355] xref: GARD:5267 {source="MONDO:GARD"} xref: MEDGEN:481087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -223400,7 +223436,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:3368"} subset: orphanet_rare {source="Orphanet:3368"} subset: rare synonym: "trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia" RELATED [GARD:0005126] -synonym: "trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet" RELATED [OMIM:275595] +synonym: "trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet" RELATED [] synonym: "trigonocephaly - bifid nose - acral anomalies" RELATED [GARD:0005126] xref: GARD:5126 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:3368/attributed", source="Orphanet:3368/ntbt", source="Orphanet:3368"} @@ -223422,21 +223458,21 @@ subset: ordo_disorder {source="Orphanet:98907"} subset: orphanet_rare {source="Orphanet:98907"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:275630] -synonym: "Chanarin-Dorfman disease" RELATED [OMIM:275630] -synonym: "Chanarin-Dorfman Syndrome" EXACT [NORD:1283] -synonym: "Chanarin-Dorfman syndrome" EXACT [DOID:0050729, MONDO:Lexical, OMIM:275630] +synonym: "CDS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Chanarin-Dorfman disease" RELATED [] +synonym: "Chanarin-Dorfman Syndrome" EXACT [NORD:1283, OMIM:275630, Orphanet:98907] +synonym: "Chanarin-Dorfman syndrome" EXACT [MONDO:Lexical, OMIM:275630, Orphanet:98907] synonym: "DCs" RELATED [GARD:0003979] synonym: "disorder of cornification 12 (neutral lipid storage type)" RELATED [GARD:0003979] synonym: "Dorfman Chanarin syndrome" RELATED [GARD:0003979] -synonym: "Dorfman-Chanarin syndrome" RELATED [OMIM:275630] -synonym: "ichthyosiform erythroderma with leukocyte vacuolation" RELATED [OMIM:275630] -synonym: "ichthyotic neutral Lipid storage disease" RELATED [OMIM:275630] -synonym: "neutral Lipid storage disease with ichthyosis" RELATED [OMIM:275630] -synonym: "neutral lipid storage disease with ichthyosis" EXACT [Orphanet:98907] +synonym: "Dorfman-Chanarin syndrome" RELATED [] +synonym: "ichthyosiform erythroderma with leukocyte vacuolation" RELATED [] +synonym: "ichthyotic neutral Lipid storage disease" RELATED [] +synonym: "neutral Lipid storage disease with ichthyosis" RELATED [] +synonym: "neutral lipid storage disease with ichthyosis" EXACT [icd11.foundation:690728790, OMIM:275630, Orphanet:98907] synonym: "neutral lipid storage disease with ichthyotic" RELATED [GARD:0003979] synonym: "NLSDI" EXACT ABBREVIATION [Orphanet:98907] -synonym: "triglyceride storage disease with impaired long-chain fatty acid oxidation" RELATED [OMIM:275630] +synonym: "triglyceride storage disease with impaired long-chain fatty acid oxidation" RELATED [] xref: GARD:3979 {source="MONDO:GARD"} xref: ICD10CM:E75.5 {source="Orphanet:98907/attributed", source="Orphanet:98907/ntbt", source="Orphanet:98907"} xref: icd11.foundation:690728790 {source="MONDO:equivalentTo"} @@ -223468,19 +223504,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 20" EXACT [DOID:0050886] synonym: "autosomal recessive spastic paraplegia Troyer type" EXACT [DOID:0050886] -synonym: "autosomal recessive spastic paraplegia type 20" EXACT [DOID:0050886] +synonym: "autosomal recessive spastic paraplegia type 20" EXACT [DOID:0050886, Orphanet:101000] synonym: "childhood-onset spastic paraparesis with distal muscle wasting" EXACT [DOID:0050886] synonym: "childhood-onset spastic paraparesis-distal muscle wasting syndrome" EXACT [Orphanet:101000] synonym: "Cross-McKusick syndrome" RELATED [GARD:0005372] synonym: "hereditary spastic paraplegia 20" EXACT [DOID:0050886] -synonym: "spastic paraparesis, childhood-onset, with distal muscle wasting" RELATED [OMIM:275900] +synonym: "spastic paraparesis, childhood-onset, with distal muscle wasting" RELATED [] synonym: "spastic paraplegia 20" RELATED [GARD:0005372] -synonym: "spastic paraplegia 20 (Troyer syndrome)" EXACT [DOID:0050886] -synonym: "spastic paraplegia 20, autosomal recessive" RELATED [GARD:0005372, MONDO:Lexical, OMIM:275900] +synonym: "spastic paraplegia 20 (Troyer syndrome)" EXACT [] +synonym: "spastic paraplegia 20, autosomal recessive" RELATED [GARD:0005372, MONDO:Lexical] synonym: "spastic paraplegia type 20" EXACT [DOID:0050886] -synonym: "spastic paraplegia, autosomal recessive, Troyer type" RELATED [OMIM:275900] +synonym: "spastic paraplegia, autosomal recessive, Troyer type" RELATED [] synonym: "SPG20" EXACT ABBREVIATION [DOID:0050886, MONDO:Lexical, OMIM:275900, Orphanet:101000] -synonym: "Troyer syndrome" EXACT [OMIM:275900, Orphanet:101000] +synonym: "Troyer syndrome" EXACT [DOID:0050886, OMIM:275900, Orphanet:101000] xref: DOID:0050886 {source="MONDO:equivalentTo"} xref: GARD:5372 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="Orphanet:101000", source="Orphanet:101000/attributed", source="Orphanet:101000/ntbt", source="DOID:0050886"} @@ -223534,9 +223570,9 @@ subset: rare synonym: "brain tumor-polyposis syndrome" RELATED [GARD:0000420] synonym: "brain tumor-polyposis syndrome 1" EXACT [OMIM:276300] synonym: "BTP1 syndrome" EXACT [OMIM:276300] -synonym: "childhood cancer syndrome" RELATED [OMIM:276300] -synonym: "CMMR-D" EXACT [NCIT:C130202] -synonym: "CMMR-D syndrome" EXACT [Orphanet:252202] +synonym: "childhood cancer syndrome" RELATED [] +synonym: "CMMR-D" EXACT ABBREVIATION [NCIT:C130202] +synonym: "CMMR-D syndrome" EXACT [] synonym: "CNS tumors with familial polyposis of the colon" RELATED [GARD:0000420] synonym: "CNS tumours with familial polyposis of the colon" RELATED OMO:0003005 [] synonym: "constitutional MIS-match repair deficiency syndrome" EXACT [NCIT:C130202] @@ -223544,14 +223580,14 @@ synonym: "constitutional mismatch repair deficiency syndrome" EXACT [NCIT:C13020 synonym: "glioma-polyposis syndrome" RELATED [GARD:0000420] synonym: "malignant tumors of the central nervous system associated with familial polyposis of the colon" RELATED [GARD:0000420] synonym: "malignant tumours of the central nervous system associated with familial polyposis of the colon" RELATED OMO:0003005 [] -synonym: "mismatch repair cancer syndrome" RELATED [MONDO:Lexical, OMIM:276300] -synonym: "mismatch repair cancer syndrome 1" EXACT CLINGEN_LABEL [] -synonym: "mismatch repair deficiency" RELATED [OMIM:276300] -synonym: "MMR deficiency" RELATED [OMIM:276300] -synonym: "MMRCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276300] +synonym: "mismatch repair cancer syndrome" RELATED [MONDO:Lexical] +synonym: "mismatch repair cancer syndrome 1" EXACT CLINGEN_LABEL [OMIM:276300] +synonym: "mismatch repair deficiency" RELATED [] +synonym: "MMR deficiency" RELATED [] +synonym: "MMRCS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MMRCS1" EXACT ABBREVIATION [OMIM:276300] -synonym: "Turcot Syndrome" EXACT [NORD:1805] -synonym: "Turcot syndrome" RELATED [OMIM:276300] +synonym: "Turcot Syndrome" EXACT [NORD:1805, OMIM:276300] +synonym: "Turcot syndrome" RELATED [] xref: GARD:420 {source="MONDO:GARD"} xref: MEDGEN:1748029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536928 {source="MONDO:equivalentTo"} @@ -223583,24 +223619,24 @@ subset: ordo_disorder {source="Orphanet:28378"} subset: orphanet_rare {source="Orphanet:28378"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "keratosis palmoplantaris with corneal dystrophy" RELATED [OMIM:276600] +synonym: "keratosis palmoplantaris with corneal dystrophy" RELATED [] synonym: "keratosis palmoplantaris-corneal dystrophy syndrome" EXACT [Orphanet:28378] synonym: "oculocutaneous tyrosinemia" EXACT [DOID:0050725, Orphanet:28378] -synonym: "Oregon type tyrosinemia" RELATED [OMIM:276600] +synonym: "Oregon type tyrosinemia" RELATED [] synonym: "Richner Hanhart syndrome" RELATED [GARD:0003105] -synonym: "Richner-Hanhart syndrome" EXACT [DOID:0050725, OMIM:276600, Orphanet:28378] -synonym: "Tat deficiency" RELATED [OMIM:276600] -synonym: "tyrosine aminotransferase deficiency" RELATED [OMIM:276600] -synonym: "tyrosine transaminase deficiency" RELATED [OMIM:276600] +synonym: "Richner-Hanhart syndrome" EXACT [DOID:0050725, icd11.foundation:1900229795, OMIM:276600, Orphanet:28378] +synonym: "Tat deficiency" RELATED [] +synonym: "tyrosine aminotransferase deficiency" RELATED [] +synonym: "tyrosine transaminase deficiency" RELATED [] synonym: "tyrosinemia due to TAT deficiency" EXACT [Orphanet:28378] synonym: "tyrosinemia due to tyrosine aminotransferase deficiency" EXACT [Orphanet:28378] synonym: "tyrosinemia type 2" RELATED [GARD:0003105] -synonym: "tyrosinemia type II" EXACT CLINGEN_LABEL [Orphanet:28378] -synonym: "tyrosinemia, type 2" RELATED [OMIM:276600] -synonym: "tyrosinemia, type II" RELATED [MONDO:Lexical, OMIM:276600] +synonym: "tyrosinemia type II" EXACT CLINGEN_LABEL [DOID:0050725, NCIT:C129032, Orphanet:28378] +synonym: "tyrosinemia, type 2" RELATED [] +synonym: "tyrosinemia, type II" RELATED [MONDO:Lexical] synonym: "Tyrosinosis oculocutaneous type" RELATED [GARD:0003105] -synonym: "Tyrosinosis, oculocutaneous type" RELATED [OMIM:276600] -synonym: "TYRSN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276600] +synonym: "Tyrosinosis, oculocutaneous type" RELATED [] +synonym: "TYRSN2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050725 {source="MONDO:equivalentTo"} xref: GARD:3105 {source="MONDO:GARD"} xref: ICD10CM:E70.2 {source="Orphanet:28378/inclusion", source="Orphanet:28378/ntbt", source="Orphanet:28378"} @@ -223637,18 +223673,18 @@ subset: ordo_disorder {source="Orphanet:882"} subset: orphanet_rare {source="Orphanet:882"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FAH deficiency" EXACT [Orphanet:882] -synonym: "Fah deficiency" RELATED [OMIM:276700] -synonym: "fumarylacetoacetase deficiency" EXACT [OMIM:276700, Orphanet:882] +synonym: "FAH deficiency" EXACT [OMIM:276700, Orphanet:882] +synonym: "Fah deficiency" RELATED [] +synonym: "fumarylacetoacetase deficiency" EXACT [icd11.foundation:2029519782, OMIM:276700, Orphanet:882] synonym: "fumarylacetoacetate hydrolase deficiency" EXACT [Orphanet:882] synonym: "hepatorenal tyrosinemia" EXACT [DOID:0050726, OMIM:276700, Orphanet:882] synonym: "type I tyrosinemia" EXACT [NCIT:C98641] -synonym: "Tyrosinemia Type 1" EXACT [NORD:1811] +synonym: "Tyrosinemia Type 1" EXACT [NORD:1811, Orphanet:882] synonym: "tyrosinemia type 1" RELATED [GARD:0002658] -synonym: "tyrosinemia type I" EXACT CLINGEN_LABEL [Orphanet:882] -synonym: "tyrosinemia, type 1" RELATED [OMIM:276700] -synonym: "tyrosinemia, type I" RELATED [MONDO:Lexical, OMIM:276700] -synonym: "TYRSN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276700] +synonym: "tyrosinemia type I" EXACT CLINGEN_LABEL [DOID:0050726, NCIT:C98641, Orphanet:882] +synonym: "tyrosinemia, type 1" RELATED [] +synonym: "tyrosinemia, type I" RELATED [MONDO:Lexical] +synonym: "TYRSN1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050726 {source="MONDO:equivalentTo"} xref: GARD:2658 {source="MONDO:GARD"} xref: ICD10CM:E70.2 {source="Orphanet:882/ntbt", source="Orphanet:882/inclusion", source="Orphanet:882"} @@ -223686,16 +223722,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "4-alpha hydroxyphenylpyruvate dioxygenase deficiency" RELATED [GARD:0010332] synonym: "4-alpha hydroxyphenylpyruvic acid oxidase deficiency" RELATED [GARD:0010332] -synonym: "4-Hydroxyphenylpyruvate dioxygenase deficiency" RELATED [OMIM:276710] -synonym: "4-Hydroxyphenylpyruvic acid oxidase deficiency" RELATED [OMIM:276710] +synonym: "4-Hydroxyphenylpyruvate dioxygenase deficiency" RELATED [] +synonym: "4-Hydroxyphenylpyruvic acid oxidase deficiency" RELATED [] synonym: "tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency" EXACT [Orphanet:69723] synonym: "tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency" EXACT [Orphanet:69723] synonym: "tyrosinemia due to HPD deficiency" EXACT [Orphanet:69723] synonym: "tyrosinemia type 3" RELATED [GARD:0010332] -synonym: "tyrosinemia type III" EXACT CLINGEN_LABEL [Orphanet:69723] -synonym: "tyrosinemia, type 3" RELATED [OMIM:276710] -synonym: "tyrosinemia, type III" RELATED [MONDO:Lexical, OMIM:276710] -synonym: "TYRSN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276710] +synonym: "tyrosinemia type III" EXACT CLINGEN_LABEL [DOID:0050727, Orphanet:69723] +synonym: "tyrosinemia, type 3" RELATED [] +synonym: "tyrosinemia, type III" RELATED [MONDO:Lexical] +synonym: "TYRSN3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050727 {source="MONDO:equivalentTo"} xref: GARD:10332 {source="MONDO:GARD"} xref: ICD10CM:E70.2 {source="Orphanet:69723", source="Orphanet:69723/attributed", source="Orphanet:69723/ntbt"} @@ -223741,19 +223777,19 @@ subset: rare synonym: "AARRS" RELATED ABBREVIATION [GARD:0009212] synonym: "absence of ulna and fibula with severe limb deficiency" RELATED [GARD:0009212] synonym: "Al Awadi Teebi Farag syndrome" RELATED [GARD:0005124] -synonym: "Al Awadi-Raas-Rothschild syndrome" EXACT [Orphanet:2879] +synonym: "Al Awadi-Raas-Rothschild syndrome" EXACT [DOID:0112181, Orphanet:2879] synonym: "Al-Awadi-Raas-Rothschild syndrome" RELATED [GARD:0009212] -synonym: "Al-Awadi/Raas-Rothschild syndrome" RELATED [OMIM:276820] +synonym: "Al-Awadi/Raas-Rothschild syndrome" RELATED [] synonym: "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome" RELATED [GARD:0009212] -synonym: "aplasia/hypoplasia of limbs and pelvis" EXACT [Orphanet:2879] -synonym: "congenital absence of ulna and fibula" EXACT [Orphanet:2879] -synonym: "limb/pelvis-hypoplasia/aplasia syndrome" RELATED [OMIM:276820] +synonym: "aplasia/hypoplasia of limbs and pelvis" EXACT [DOID:0112181, Orphanet:2879] +synonym: "congenital absence of ulna and fibula" EXACT [DOID:0112181, Orphanet:2879] +synonym: "limb/pelvis-hypoplasia/aplasia syndrome" RELATED [] synonym: "profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence" RELATED [GARD:0005124] -synonym: "Schinzel phocomelia syndrome" RELATED [OMIM:276820] -synonym: "severe limb deficit" EXACT [Orphanet:2879] +synonym: "Schinzel phocomelia syndrome" RELATED [] +synonym: "severe limb deficit" EXACT [DOID:0112181, Orphanet:2879] synonym: "Teebi Naguib Al Awadi syndrome" RELATED [GARD:0005124] synonym: "ulna and fibula absence of with severe limb deficiency" RELATED [GARD:0009212] -synonym: "ulna and fibula, absence of, with severe limb deficiency" RELATED [OMIM:276820] +synonym: "ulna and fibula, absence of, with severe limb deficiency" RELATED [] xref: DOID:0112181 {source="MONDO:equivalentTo"} xref: GARD:9212 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:2879/attributed", source="Orphanet:2879/ntbt", source="Orphanet:2879"} @@ -223785,12 +223821,12 @@ synonym: "bilateral ulnar hypoplasia and intellectual disability" RELATED [GARD: synonym: "bilateral ulnar hypoplasia and mental retardation" RELATED DEPRECATED [GARD:0005398] synonym: "mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability" RELATED [GARD:0005398] synonym: "mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation" RELATED DEPRECATED [GARD:0005398] -synonym: "mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability" RELATED [OMIM:276821] -synonym: "mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation" RELATED DEPRECATED [OMIM:276821] +synonym: "mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability" RELATED [] +synonym: "mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation" RELATED DEPRECATED [] synonym: "ulna hypoplasia with intellectual disability" RELATED [GARD:0005398] synonym: "ulna hypoplasia with mental retardation" RELATED DEPRECATED [GARD:0005398] -synonym: "ulnar hypoplasia with intellectual disability" RELATED [OMIM:276821] -synonym: "ulnar hypoplasia with mental retardation" RELATED DEPRECATED [OMIM:276821] +synonym: "ulnar hypoplasia with intellectual disability" RELATED [] +synonym: "ulnar hypoplasia with mental retardation" RELATED DEPRECATED [] xref: GARD:5398 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:2249", source="Orphanet:2249/attributed", source="Orphanet:2249/ntbt"} xref: MEDGEN:341275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -223825,11 +223861,11 @@ subset: ordo_disorder {source="Orphanet:210128"} subset: orphanet_rare {source="Orphanet:210128"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "encephalopathy due to urocanase deficiency" EXACT [Orphanet:210128] -synonym: "urocanase deficiency" RELATED [MONDO:Lexical, OMIM:276880] -synonym: "urocanic aciduria" EXACT CLINGEN_LABEL [MONDO:ambiguous] +synonym: "encephalopathy due to urocanase deficiency" EXACT [DOID:0112180, icd11.foundation:61773927, Orphanet:210128] +synonym: "urocanase deficiency" RELATED [MONDO:Lexical] +synonym: "urocanic aciduria" EXACT CLINGEN_LABEL [DOID:0112180, icd11.foundation:61773927, MONDO:ambiguous, Orphanet:210128] synonym: "urocanic aciduria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "UROCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:276880] +synonym: "UROCD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0112180 {source="MONDO:equivalentTo"} xref: GARD:8539 {source="MONDO:GARD"} xref: HP:0012237 {source="MONDO:otherHierarchy"} @@ -223857,19 +223893,19 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:231169"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "retinitis pigmentosa and congenital deafness" EXACT [OMIM:276900] -synonym: "US1" EXACT ABBREVIATION [DOID:0110826, OMIM:276900] -synonym: "USH1" EXACT ABBREVIATION [DOID:0110826, MONDO:Lexical, OMIM:276900, Orphanet:231169] +synonym: "retinitis pigmentosa and congenital deafness" EXACT [] +synonym: "US1" EXACT ABBREVIATION [DOID:0110826] +synonym: "USH1" EXACT ABBREVIATION [DOID:0110826, MONDO:Lexical, Orphanet:231169] synonym: "USH1A" RELATED ABBREVIATION [GARD:0005435] -synonym: "Usher syndrome type 1" EXACT CLINGEN_LABEL [] -synonym: "Usher syndrome, type 1" EXACT [GARD:0005435, OMIM:276900] +synonym: "Usher syndrome type 1" EXACT CLINGEN_LABEL [DOID:0110826, icd11.foundation:237039059, NCIT:C126327, Orphanet:231169] +synonym: "Usher syndrome, type 1" EXACT [GARD:0005435] synonym: "Usher syndrome, type 1A" RELATED [GARD:0005435] -synonym: "Usher syndrome, type 1B" RELATED [OMIM:276900] -synonym: "USHER syndrome, type I" RELATED [MONDO:Lexical, OMIM:276900] -synonym: "Usher syndrome, type I, French variety" RELATED [OMIM:276900] -synonym: "Usher syndrome, type I, French variety, formerly" RELATED [OMIM:276900] -synonym: "Usher syndrome, type Ia" RELATED [OMIM:276900] -synonym: "Usher syndrome, type Ia, formerly" RELATED [OMIM:276900] +synonym: "Usher syndrome, type 1B" RELATED [] +synonym: "USHER syndrome, type I" RELATED [MONDO:Lexical] +synonym: "Usher syndrome, type I, French variety" RELATED [] +synonym: "Usher syndrome, type I, French variety, formerly" RELATED [] +synonym: "Usher syndrome, type Ia" RELATED [] +synonym: "Usher syndrome, type Ia, formerly" RELATED [] xref: DOID:0110826 {source="MONDO:equivalentTo"} xref: GARD:5435 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110826", source="Orphanet:231169", source="Orphanet:231169/attributed", source="Orphanet:231169/ntbt"} @@ -223893,15 +223929,15 @@ subset: gard_rare {source="GARD:15241", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "retinal disease in usher syndrome type IIA, modifier of" EXACT [OMIM:276901, OMIM:genemap2] +synonym: "retinal disease in usher syndrome type IIA, modifier of" EXACT [] synonym: "US2" RELATED ABBREVIATION [GARD:0005440] synonym: "USH2A" EXACT ABBREVIATION [DOID:0110838, MONDO:Lexical, OMIM:276901] synonym: "USH2A Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Usher syndrome caused by mutation in USH2A" EXACT [MONDO:design_pattern] -synonym: "Usher syndrome type 2A" EXACT CLINGEN_LABEL [] +synonym: "Usher syndrome type 2A" EXACT CLINGEN_LABEL [DOID:0110838] synonym: "Usher syndrome type IIA" EXACT [DOID:0110838] -synonym: "Usher syndrome, type 2A" RELATED [OMIM:276901] -synonym: "USHER syndrome, type IIA" RELATED [MONDO:Lexical, OMIM:276901] +synonym: "Usher syndrome, type 2A" RELATED [] +synonym: "USHER syndrome, type IIA" RELATED [MONDO:Lexical] xref: DOID:0110838 {source="MONDO:equivalentTo"} xref: GARD:15241 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110838"} @@ -223929,11 +223965,11 @@ subset: rare synonym: "CLRN1 Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "USH3A" EXACT ABBREVIATION [DOID:0110841, MONDO:Lexical, OMIM:276902] synonym: "Usher syndrome caused by mutation in CLRN1" EXACT [MONDO:design_pattern] -synonym: "Usher syndrome type 3A" EXACT CLINGEN_LABEL [] +synonym: "Usher syndrome type 3A" EXACT CLINGEN_LABEL [DOID:0110841] synonym: "Usher syndrome type IIIA" EXACT [DOID:0110841] -synonym: "Usher syndrome, type 3" RELATED [OMIM:276902] -synonym: "Usher syndrome, type 3A" RELATED [OMIM:276902] -synonym: "USHER syndrome, type IIIA" RELATED [MONDO:Lexical, OMIM:276902] +synonym: "Usher syndrome, type 3" RELATED [] +synonym: "Usher syndrome, type 3A" RELATED [] +synonym: "USHER syndrome, type IIIA" RELATED [MONDO:Lexical] xref: DOID:0110841 {source="MONDO:equivalentTo"} xref: GARD:15242 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="DOID:0110841", source="MONDO:relatedTo"} @@ -223958,13 +223994,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "USH1C" EXACT ABBREVIATION [DOID:0110830, MONDO:Lexical, OMIM:276904] -synonym: "Usher syndrome type 1C" EXACT CLINGEN_LABEL [] +synonym: "Usher syndrome type 1C" EXACT CLINGEN_LABEL [DOID:0110830] synonym: "Usher syndrome type I Acadian variety" EXACT [DOID:0110830] synonym: "Usher syndrome type IC" EXACT [DOID:0110830] synonym: "Usher syndrome, Acadian variety" RELATED [GARD:0005437] synonym: "Usher syndrome, type 1C" RELATED [GARD:0005437] -synonym: "Usher syndrome, type I, Acadian variety" RELATED [OMIM:276904] -synonym: "USHER syndrome, type IC" RELATED [MONDO:Lexical, OMIM:276904] +synonym: "Usher syndrome, type I, Acadian variety" RELATED [] +synonym: "USHER syndrome, type IC" RELATED [MONDO:Lexical] xref: DOID:0110830 {source="MONDO:equivalentTo"} xref: GARD:5437 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="DOID:0110830", source="MONDO:relatedTo"} @@ -223990,12 +224026,12 @@ subset: orphanet_rare {source="Orphanet:3412"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Sujansky-Leonard syndrome" EXACT [Orphanet:3412] -synonym: "VACTERL association with hydrocephalus" RELATED [OMIM:276950] +synonym: "VACTERL association with hydrocephalus" RELATED [] synonym: "VACTERL association with hydrocephaly" RELATED [GARD:0000272] synonym: "VACTERL hydrocephaly" RELATED [GARD:0000272] -synonym: "VACTERL-H" RELATED [OMIM:276950] -synonym: "Vater association with hydrocephalus" RELATED [OMIM:276950] -synonym: "Vater association with macrocephaly and ventriculomegaly" RELATED [OMIM:276950] +synonym: "VACTERL-H" RELATED [] +synonym: "Vater association with hydrocephalus" RELATED [] +synonym: "Vater association with macrocephaly and ventriculomegaly" RELATED [] synonym: "vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly" RELATED [GARD:0000272] xref: GARD:272 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3412/attributed", source="Orphanet:3412/ntbt", source="Orphanet:3412"} @@ -224021,23 +224057,23 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:247775"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital absence of the uterus and vagina (CAUV)" RELATED [GARD:0007100] -synonym: "congenital absence of uterus and vagina" EXACT [GARD:0007100, OMIM:277000, Orphanet:247775] +synonym: "congenital absence of uterus and vagina" EXACT [DOID:0112178, GARD:0007100, OMIM:277000, Orphanet:247775] synonym: "genital renal ear syndrome" RELATED [GARD:0007100] -synonym: "Mayer-Rokitansky-KUSTER-Hauser syndrome" RELATED [OMIM:277000] +synonym: "Mayer-Rokitansky-KUSTER-Hauser syndrome" RELATED [] synonym: "Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)" RELATED [GARD:0007100] -synonym: "Mayer-Rokitansky-Küster-Hauser syndrome type 1" RELATED [Orphanet:247775] -synonym: "Mrk anomaly" RELATED [OMIM:277000] -synonym: "MRKH anomaly" RELATED [OMIM:277000] -synonym: "MRKH syndrome" RELATED [GARD:0007100, OMIM:277000] -synonym: "MRKH syndrome type 1" EXACT [Orphanet:247775] -synonym: "Mullerian aplasia/dysgenesis" RELATED [OMIM:277000] +synonym: "Mayer-Rokitansky-Küster-Hauser syndrome type 1" RELATED [] +synonym: "Mrk anomaly" RELATED [] +synonym: "MRKH anomaly" RELATED [] +synonym: "MRKH syndrome" RELATED [GARD:0007100] +synonym: "MRKH syndrome type 1" EXACT [DOID:0112178, Orphanet:247775] +synonym: "Mullerian aplasia/dysgenesis" RELATED [] synonym: "Mullerian dysgenesis" RELATED [GARD:0007100] synonym: "Müllerian agenesis" RELATED [GARD:0007100] -synonym: "Rokitansky sequence" EXACT [Orphanet:247775] +synonym: "Rokitansky sequence" EXACT [DOID:0112178, Orphanet:247775] synonym: "Rokitansky syndrome" RELATED [GARD:0007100] -synonym: "urogenital adysplasia" RELATED [OMIM:277000] -synonym: "uterus Bipartitus solidus Rudimentarius cum vagina Solida" RELATED [OMIM:277000] -synonym: "Von Mayer-Rokitansky-Kuster anomaly" RELATED [OMIM:277000] +synonym: "urogenital adysplasia" RELATED [] +synonym: "uterus Bipartitus solidus Rudimentarius cum vagina Solida" RELATED [] +synonym: "Von Mayer-Rokitansky-Kuster anomaly" RELATED [] xref: DOID:0112178 {source="MONDO:equivalentTo"} xref: GARD:4737 {source="MONDO:GARD"} xref: ICD10CM:Q51.8 {source="Orphanet:247775/attributed", source="Orphanet:247775/ntbt", source="Orphanet:247775"} @@ -224054,8 +224090,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7100/mulleri id: MONDO:0010174 name: Valinemia def: "Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal." [https://rarediseases.info.nih.gov/diseases/7845/valinemia] -synonym: "hypervalinemia" RELATED [OMIM:277100] -synonym: "valine transaminase deficiency" RELATED [OMIM:277100] +synonym: "hypervalinemia" RELATED [] +synonym: "valine transaminase deficiency" RELATED [] synonym: "Valinemia" EXACT [OMIM:277100] xref: MEDGEN:120652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536524 {source="MONDO:equivalentTo"} @@ -224092,20 +224128,20 @@ subset: orphanet_rare {source="Orphanet:2754"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Joubert syndrome with oral-facial-digital syndrome" EXACT [Orphanet:2754] -synonym: "Joubert syndrome with orofaciodigital defect" EXACT [GARD:0004412] -synonym: "OFD6" EXACT ABBREVIATION [DOID:0060376, Orphanet:2754] -synonym: "Ofds 6" RELATED [OMIM:277170] +synonym: "Joubert syndrome with orofaciodigital defect" EXACT [DOID:0060376, GARD:0004412, Orphanet:2754] +synonym: "OFD6" EXACT ABBREVIATION [DOID:0060376, OMIM:277170, Orphanet:2754] +synonym: "Ofds 6" RELATED [] synonym: "oral-facial-digital syndrome type 6" EXACT [Orphanet:2754] -synonym: "oral-Facial-digital syndrome, type 6" RELATED [OMIM:277170] -synonym: "orofaciodigital syndrome 6" RELATED [OMIM:277170] -synonym: "orofaciodigital syndrome type 6" EXACT [MONDORULE:1, OMIM:277170, Orphanet:2754] -synonym: "orofaciodigital syndrome VI" EXACT [DOID:0060376, MONDO:Lexical, OMIM:277170] +synonym: "oral-Facial-digital syndrome, type 6" RELATED [] +synonym: "orofaciodigital syndrome 6" RELATED [] +synonym: "orofaciodigital syndrome type 6" EXACT [MONDORULE:1, NCIT:C124841, Orphanet:2754] +synonym: "orofaciodigital syndrome VI" EXACT [DOID:0060376, MONDO:Lexical] synonym: "polydactyly - cleft lip/palate - psychomotor retardation" RELATED [GARD:0004412] synonym: "polydactyly cleft lip palate psychomotor retardation" RELATED [GARD:0004412] -synonym: "polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation" RELATED [OMIM:277170] +synonym: "polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation" RELATED [] synonym: "polydactyly-cleft lip/palate-psychomotor retardation syndrome" EXACT [Orphanet:2754] synonym: "Varadi syndrome" EXACT [DOID:0060376, OMIM:277170] -synonym: "Varadi-Papp syndrome" EXACT [DOID:0060376, OMIM:277170] +synonym: "Varadi-Papp syndrome" EXACT [DOID:0060376, NCIT:C124841, OMIM:277170] synonym: "Váradi syndrome" RELATED [GARD:0004412] synonym: "Váradi-Papp syndrome" RELATED [GARD:0004412] xref: DOID:0060376 {source="MONDO:equivalentTo"} @@ -224163,11 +224199,11 @@ subset: gard_rare {source="GARD:15243", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CAVD" RELATED ABBREVIATION [OMIM:277180] -synonym: "CBAVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277180] -synonym: "congenital bilateral absence of vas deferens" BROAD [OMIM:277180, OMIM:genemap2] -synonym: "congenital bilateral aplasia of the vas deferens" BROAD [NCIT:C129303] -synonym: "vas deferens, congenital bilateral aplasia of" BROAD [MONDO:Lexical, OMIM:277180] +synonym: "CAVD" RELATED ABBREVIATION [] +synonym: "CBAVD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "congenital bilateral absence of vas deferens" BROAD [] +synonym: "congenital bilateral aplasia of the vas deferens" BROAD [] +synonym: "vas deferens, congenital bilateral aplasia of" BROAD [MONDO:Lexical] xref: DOID:0111864 {source="MONDO:equivalentTo"} xref: GARD:15243 {source="MONDO:GARD"} xref: MEDGEN:98021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -224192,11 +224228,11 @@ subset: ordo_morphological_anomaly {source="Orphanet:439"} subset: orphanet_rare {source="Orphanet:439"} subset: rare synonym: "hypoplasia of the right ventricle" RELATED [GARD:0004721] -synonym: "Irvh" RELATED [OMIM:277200] +synonym: "Irvh" RELATED [] synonym: "isolated hypoplasia of the right ventricle" RELATED [GARD:0004721] synonym: "right ventricle hypoplasia" RELATED [GARD:0004721] synonym: "right ventricular hypoplasia" RELATED [GARD:0004721] -synonym: "right ventricular hypoplasia, isolated" RELATED [OMIM:277200] +synonym: "right ventricular hypoplasia, isolated" RELATED [] xref: GARD:4721 {source="MONDO:GARD"} xref: ICD10CM:Q22.6 {source="Orphanet:439", source="Orphanet:439/ntbt"} xref: MEDGEN:336377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -224219,10 +224255,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:2311"} subset: orphanet_rare {source="Orphanet:2311"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "costovertebral dysplasia" RELATED [OMIM:277300] +synonym: "costovertebral dysplasia" RELATED [] synonym: "Jarcho-Levin syndrome" EXACT [Orphanet:2311] -synonym: "SCDO1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277300] -synonym: "spondylocostal dysostosis 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:277300] +synonym: "SCDO1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spondylocostal dysostosis 1, autosomal recessive" RELATED [MONDO:Lexical] synonym: "spondylocostal dysostosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: GARD:6798 {source="MONDO:GARD"} xref: ICD10CM:Q76.8 {source="Orphanet:2311", source="Orphanet:2311/attributed", source="Orphanet:2311/ntbt"} @@ -224247,10 +224283,10 @@ subset: orphanet_rare {source="Orphanet:1876"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial visceral myopathy with external ophthalmoplegia" RELATED [GARD:0005496] -synonym: "intestinal pseudoobstruction with external ophthalmoplegia" RELATED [OMIM:277320] -synonym: "muscular dystrophy, oculogastrointestinal" RELATED [OMIM:277320] +synonym: "intestinal pseudoobstruction with external ophthalmoplegia" RELATED [] +synonym: "muscular dystrophy, oculogastrointestinal" RELATED [] synonym: "visceral myopathy - familial external ophthalmoplegia" RELATED [GARD:0005496] -synonym: "visceral myopathy, familial, with external ophthalmoplegia" RELATED [OMIM:277320] +synonym: "visceral myopathy, familial, with external ophthalmoplegia" RELATED [] synonym: "visceral myopathy-familial external ophthalmoplegia syndrome" EXACT [Orphanet:1876] xref: GARD:5496 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="MONDO:relatedTo", source="Orphanet:1876", source="Orphanet:1876/attributed", source="Orphanet:1876/ntbt"} @@ -224294,21 +224330,21 @@ synonym: "cblF defect" EXACT [Orphanet:79284] synonym: "cblF methylmalonic acidemia and homocystinuria" RELATED [] synonym: "cobalamin F defect" EXACT [Orphanet:79284] synonym: "cobalamin F deficiency" EXACT [DOID:0050717] -synonym: "cobalamin F disease" RELATED [OMIM:277380] +synonym: "cobalamin F disease" RELATED [] synonym: "cobalamin locus f variant" RELATED [] -synonym: "cobalamin, defect in lysosomal release of" RELATED [OMIM:277380] +synonym: "cobalamin, defect in lysosomal release of" RELATED [] synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF" EXACT [Orphanet:79284] synonym: "inherited methylmalonic acidemia and homocystinuria" EXACT [] synonym: "lysosomal membrane cobalamin transporter deficiency" EXACT [Orphanet:79284] -synonym: "MAHCF" RELATED ABBREVIATION [OMIM:277380] -synonym: "methylmalonic acidemia and homocystinuria, cblF type" RELATED [OMIM:277380] -synonym: "methylmalonic acidemia with homocystinuria type cblF" RELATED [Orphanet:79284] -synonym: "methylmalonic aciduria and homocystinuria type cblF" EXACT CLINGEN_LABEL [] -synonym: "methylmalonic aciduria and homocystinuria, cblF type" RELATED [OMIM:277380] -synonym: "methylmalonic aciduria due to vitamin B12-release defect" RELATED [OMIM:277380] +synonym: "MAHCF" RELATED ABBREVIATION [] +synonym: "methylmalonic acidemia and homocystinuria, cblF type" RELATED [] +synonym: "methylmalonic acidemia with homocystinuria type cblF" RELATED [] +synonym: "methylmalonic aciduria and homocystinuria type cblF" EXACT CLINGEN_LABEL [DOID:0050717] +synonym: "methylmalonic aciduria and homocystinuria, cblF type" RELATED [] +synonym: "methylmalonic aciduria due to vitamin B12-release defect" RELATED [] synonym: "methylmalonic aciduria with homocystinuria, type cblF" EXACT [Orphanet:79284] -synonym: "vitamin B12 lysosomal release defect" RELATED [OMIM:277380] -synonym: "vitamin B12 storage disease" RELATED [OMIM:277380] +synonym: "vitamin B12 lysosomal release defect" RELATED [] +synonym: "vitamin B12 storage disease" RELATED [] xref: DOID:0050717 {source="MONDO:equivalentTo"} xref: GARD:3584 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:79284", source="Orphanet:79284/attributed", source="Orphanet:79284/ntbt"} @@ -224346,18 +224382,18 @@ synonym: "cobalamin C deficiency" EXACT [DOID:0050715] synonym: "cobalamin c disease" EXACT [] synonym: "cobalamin locus c variant" RELATED [] synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC" EXACT [Orphanet:79282] -synonym: "MAHCC" RELATED ABBREVIATION [OMIM:277400] +synonym: "MAHCC" RELATED ABBREVIATION [] synonym: "methylmalonic acidemia and homocystinuria cblC" RELATED [GARD:0012128] -synonym: "methylmalonic acidemia and homocystinuria, cblC type" RELATED [OMIM:277400] +synonym: "methylmalonic acidemia and homocystinuria, cblC type" RELATED [] synonym: "methylmalonic acidemia with homocystinuria type cblC" RELATED [GARD:0012128] -synonym: "methylmalonic acidemia with homocystinuria, type cblC" RELATED [Orphanet:79282] +synonym: "methylmalonic acidemia with homocystinuria, type cblC" RELATED [] synonym: "methylmalonic aciduria and homocystinuria cblC" RELATED [GARD:0012128] -synonym: "methylmalonic aciduria and homocystinuria type cblC" EXACT CLINGEN_LABEL [] -synonym: "methylmalonic aciduria and homocystinuria, cblC type" RELATED [OMIM:277400] -synonym: "methylmalonic aciduria and homocystinuria, cblC type, digenic" RELATED [OMIM:277400] -synonym: "methylmalonic aciduria and homocystinuria, vitamin B12-responsive" RELATED [OMIM:277400] +synonym: "methylmalonic aciduria and homocystinuria type cblC" EXACT CLINGEN_LABEL [DOID:0050715] +synonym: "methylmalonic aciduria and homocystinuria, cblC type" RELATED [] +synonym: "methylmalonic aciduria and homocystinuria, cblC type, digenic" RELATED [] +synonym: "methylmalonic aciduria and homocystinuria, vitamin B12-responsive" RELATED [] synonym: "methylmalonic aciduria with homocystinuria, type cblC" EXACT [Orphanet:79282] -synonym: "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase" RELATED [OMIM:277400] +synonym: "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase" RELATED [] xref: DOID:0050715 {source="MONDO:equivalentTo"} xref: GARD:12128 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:79282", source="Orphanet:79282/attributed", source="Orphanet:79282/ntbt"} @@ -224392,23 +224428,23 @@ synonym: "cobalamin D defect" EXACT [Orphanet:79283] synonym: "cobalamin D deficiency" EXACT [DOID:0050716] synonym: "cobalamin d disease" EXACT [] synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD" EXACT [Orphanet:79283] -synonym: "homocystinuria, cblD type, variant 1" RELATED [OMIM:277410] +synonym: "homocystinuria, cblD type, variant 1" RELATED [] synonym: "homocystinuria, cblD type, variant 1, included" RELATED [GARD:0003582] synonym: "m0e.321 cobalamin locus d variant" RELATED [] -synonym: "MAHCD" RELATED ABBREVIATION [OMIM:277410] +synonym: "MAHCD" RELATED ABBREVIATION [] synonym: "Mehtylmalonic acidemia with homocystinuria cbI d" RELATED [GARD:0003582] -synonym: "methylmalonic acidemia and homocystinuria, cblD type" RELATED [OMIM:277410] +synonym: "methylmalonic acidemia and homocystinuria, cblD type" RELATED [] synonym: "methylmalonic acidemia with homocystinuria type cblD" RELATED [GARD:0003582] -synonym: "methylmalonic acidemia with homocystinuria, type cblD" RELATED [Orphanet:79283] -synonym: "methylmalonic acidemia, Cblh type" RELATED [OMIM:277410] -synonym: "methylmalonic acidemia, Cblh type, formerly" RELATED [OMIM:277410] -synonym: "methylmalonic aciduria and homocystinuria type cblD" EXACT CLINGEN_LABEL [] -synonym: "methylmalonic aciduria and homocystinuria, cblD type" RELATED [OMIM:277410] +synonym: "methylmalonic acidemia with homocystinuria, type cblD" RELATED [] +synonym: "methylmalonic acidemia, Cblh type" RELATED [] +synonym: "methylmalonic acidemia, Cblh type, formerly" RELATED [] +synonym: "methylmalonic aciduria and homocystinuria type cblD" EXACT CLINGEN_LABEL [DOID:0050716] +synonym: "methylmalonic aciduria and homocystinuria, cblD type" RELATED [] synonym: "methylmalonic aciduria with homocystinuria, type cblD" EXACT [Orphanet:79283] -synonym: "methylmalonic aciduria, cblD type, variant 2" RELATED [OMIM:277410] +synonym: "methylmalonic aciduria, cblD type, variant 2" RELATED [] synonym: "methylmalonic aciduria, cblD type, variant 2, included" RELATED [GARD:0003582] -synonym: "methylmalonic aciduria, Cblh type" RELATED [OMIM:277410] -synonym: "methylmalonic aciduria, Cblh type, formerly" RELATED [OMIM:277410] +synonym: "methylmalonic aciduria, Cblh type" RELATED [] +synonym: "methylmalonic aciduria, Cblh type, formerly" RELATED [] xref: DOID:0050716 {source="MONDO:equivalentTo"} xref: GARD:3582 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:79283", source="Orphanet:79283/attributed", source="Orphanet:79283/ntbt"} @@ -224439,23 +224475,23 @@ subset: gard_rare {source="GARD:18169", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "generalised resistance to 1,25-dihydroxyvitamin D" RELATED OMO:0003005 [] -synonym: "generalized resistance to 1,25-dihydroxyvitamin D" RELATED [OMIM:277440] +synonym: "generalized resistance to 1,25-dihydroxyvitamin D" RELATED [] synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia" EXACT [NCIT:C131075] -synonym: "hypocalcemic vitamin D-resistant rickets" RELATED [OMIM:277440] -synonym: "Pddr 2A" RELATED [OMIM:277440] -synonym: "Pseudovitamin D-deficiency, type 2A" RELATED [OMIM:277440] -synonym: "rickets, hereditary vitamin D-resistant" RELATED [OMIM:277440] -synonym: "rickets, vitamin D-resistant, type IIA" EXACT [OMIM:277440, OMIM:genemap2] -synonym: "rickets-alopecia syndrome" RELATED [OMIM:277440] -synonym: "VDDR2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277440] +synonym: "hypocalcemic vitamin D-resistant rickets" RELATED [] +synonym: "Pddr 2A" RELATED [] +synonym: "Pseudovitamin D-deficiency, type 2A" RELATED [] +synonym: "rickets, hereditary vitamin D-resistant" RELATED [] +synonym: "rickets, vitamin D-resistant, type IIA" EXACT [] +synonym: "rickets-alopecia syndrome" RELATED [] +synonym: "VDDR2A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "VDR vitamin D-dependent rickets, type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "vitamin D dependent rickets 2a" EXACT [NCIT:C131075] synonym: "vitamin D receptor deficiency rickets" EXACT [NCIT:C131075] synonym: "vitamin d-dependent rickets type II with alopecia" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "vitamin D-dependent rickets, type 2 caused by mutation in VDR" EXACT [MONDO:design_pattern] synonym: "vitamin D-dependent rickets, type 2A" EXACT [MONDO:Lexical, OMIM:277440] -synonym: "vitamin D-dependent rickets, type 2A, with or without alopecia" RELATED [OMIM:277440] -synonym: "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol" RELATED [OMIM:277440] +synonym: "vitamin D-dependent rickets, type 2A, with or without alopecia" RELATED [] +synonym: "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol" RELATED [] xref: DOID:0080884 {source="MONDO:equivalentTo"} xref: GARD:18169 {source="MONDO:GARD"} xref: MEDGEN:90989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -224487,19 +224523,19 @@ subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX" EXACT [MONDO:design_pattern] -synonym: "factors II, VII, IX, and X, combined deficiency of" RELATED [OMIM:277450] -synonym: "familial multiple coagulation Factor deficiency 3" RELATED [OMIM:277450] -synonym: "FMFD 3" RELATED [OMIM:277450] +synonym: "factors II, VII, IX, and X, combined deficiency of" RELATED [] +synonym: "familial multiple coagulation Factor deficiency 3" RELATED [] +synonym: "FMFD 3" RELATED [] synonym: "GGCX congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "glutamic acid, deficient gamma-carboxylation of" RELATED [OMIM:277450] -synonym: "hereditary combined deficiency of factors II, VII, IX and X" EXACT [Orphanet:98434] -synonym: "hereditary combined deficiency of vitamin K-dependent clotting factors" RELATED [Orphanet:98434] -synonym: "multiple coagulation Factor deficiency 3" RELATED [OMIM:277450] -synonym: "vitamin K-dependent clotting factors, combined deficiency of, 1" RELATED [MONDO:Lexical, OMIM:277450] -synonym: "vitamin K-dependent clotting factors, combined deficiency of, type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:277450] -synonym: "vitamin K-dependent coagulation defect" RELATED [OMIM:277450] -synonym: "Vkcfd" RELATED [OMIM:277450] -synonym: "VKCFD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277450] +synonym: "glutamic acid, deficient gamma-carboxylation of" RELATED [] +synonym: "hereditary combined deficiency of factors II, VII, IX and X" EXACT [] +synonym: "hereditary combined deficiency of vitamin K-dependent clotting factors" RELATED [] +synonym: "multiple coagulation Factor deficiency 3" RELATED [] +synonym: "vitamin K-dependent clotting factors, combined deficiency of, 1" RELATED [MONDO:Lexical] +synonym: "vitamin K-dependent clotting factors, combined deficiency of, type 1" EXACT CLINGEN_LABEL [MONDORULE:1] +synonym: "vitamin K-dependent coagulation defect" RELATED [] +synonym: "Vkcfd" RELATED [] +synonym: "VKCFD1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0112173 {source="MONDO:equivalentTo"} xref: GARD:18195 {source="MONDO:GARD"} xref: ICD10CM:D68.2 {source="Orphanet:98434/attributed", source="Orphanet:98434/ntbt", source="Orphanet:98434"} @@ -224527,17 +224563,17 @@ subset: orphanet_rare {source="Orphanet:96"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ataxia with isolated vitamin E deficiency" EXACT [DOID:0090028, Orphanet:96] -synonym: "Ataxia with Vitamin E Deficiency" EXACT [NORD:817] -synonym: "ataxia with vitamin E deficiency" RELATED [Orphanet:96] -synonym: "ataxia, Friedreich-like, with selective vitamin E deficiency" RELATED [OMIM:277460] -synonym: "AVED" EXACT ABBREVIATION [Orphanet:96] -synonym: "familial isolated deficiency of vitamin type E" EXACT [DOID:0090028, MONDORULE:1] +synonym: "Ataxia with Vitamin E Deficiency" EXACT [NORD:817, OMIM:277460, Orphanet:96] +synonym: "ataxia with vitamin E deficiency" RELATED [] +synonym: "ataxia, Friedreich-like, with selective vitamin E deficiency" RELATED [] +synonym: "AVED" EXACT ABBREVIATION [OMIM:277460, Orphanet:96] +synonym: "familial isolated deficiency of vitamin type E" EXACT [MONDORULE:1] synonym: "familial isolated vitamin E deficiency" EXACT [DOID:0090028, Orphanet:96] synonym: "Friedreich-like ataxia" EXACT [OMIM:277460, Orphanet:96] synonym: "Friedreich-like ataxia with selective vitamin E deficiency" RELATED [GARD:0008595] synonym: "isolated vitamin E deficiency" EXACT [Orphanet:96] -synonym: "VED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277460] -synonym: "vitamin E, familial isolated deficiency OF" RELATED [MONDO:Lexical, OMIM:277460] +synonym: "VED" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "vitamin E, familial isolated deficiency OF" RELATED [MONDO:Lexical] xref: DOID:0090028 {source="MONDO:equivalentTo"} xref: GARD:8595 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:96/attributed", source="Orphanet:96/ntbt", source="DOID:0090028", source="Orphanet:96"} @@ -224560,7 +224596,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0010189 name: vitiligo, progressive, with intellectual disability and urethral duplication -synonym: "vitiligo, progressive, with intellectual disability and urethral duplication" EXACT [OMIM:277465] +synonym: "vitiligo, progressive, with intellectual disability and urethral duplication" EXACT [] synonym: "vitiligo, progressive, with mental retardation and urethral duplication" EXACT DEPRECATED [OMIM:277465] xref: MEDGEN:336363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564739 {source="MONDO:equivalentTo"} @@ -224575,13 +224611,13 @@ subset: gard_rare {source="GARD:15244", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "microcephaly pontocerebellar hypoplasia dyskinesia" RELATED [GARD:0003631] -synonym: "Pch2" RELATED [OMIM:277470] -synonym: "PCH2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277470] +synonym: "Pch2" RELATED [] +synonym: "PCH2A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pontocerebellar hypoplasia type 2 caused by mutation in TSEN54" EXACT [MONDO:design_pattern] -synonym: "pontocerebellar hypoplasia with progressive cerebral atrophy" RELATED [OMIM:277470] -synonym: "pontocerebellar hypoplasia, type 2A" RELATED [MONDO:Lexical, OMIM:277470] +synonym: "pontocerebellar hypoplasia with progressive cerebral atrophy" RELATED [] +synonym: "pontocerebellar hypoplasia, type 2A" RELATED [MONDO:Lexical] synonym: "TSEN54 pontocerebellar hypoplasia type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Volendam neurodegenerative disease" RELATED [OMIM:277470] +synonym: "Volendam neurodegenerative disease" RELATED [] xref: DOID:0060267 {source="MONDO:equivalentTo"} xref: GARD:15244 {source="MONDO:GARD"} xref: MEDGEN:376379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -224606,14 +224642,14 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:166096"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "von Willebrand disease 3" EXACT CLINGEN_LABEL [] -synonym: "von Willebrand disease type 3" EXACT [DOID:0111054] +synonym: "von Willebrand disease type 3" EXACT [DOID:0111054, Orphanet:166096] synonym: "von Willebrand disease type III" EXACT [DOID:0111054] -synonym: "VON WILLEBRAND disease, type 3" RELATED [MONDO:Lexical, OMIM:277480] -synonym: "Von Willebrand disease, type 3" RELATED [OMIM:277480] -synonym: "von Willebrand's disease 3" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "von Willebrand's disease type 3" EXACT [DOID:0111054, MONDORULE:1] +synonym: "VON WILLEBRAND disease, type 3" RELATED [MONDO:Lexical] +synonym: "Von Willebrand disease, type 3" RELATED [] +synonym: "von Willebrand's disease 3" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0111054, MONDO:LexicalVariant] +synonym: "von Willebrand's disease type 3" EXACT [MONDORULE:1] synonym: "VWD type 3" EXACT [DOID:0111054] -synonym: "VWD, type 3" RELATED [OMIM:277480] +synonym: "VWD, type 3" RELATED [] synonym: "VWD3" EXACT ABBREVIATION [DOID:0111054, MONDO:Lexical, OMIM:277480] xref: DOID:0111054 {source="MONDO:equivalentTo"} xref: GARD:17025 {source="MONDO:GARD"} @@ -224639,15 +224675,15 @@ subset: gard_rare {source="GARD:15245", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "EDNRB Waardenburg syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Shah-Waardenburg syndrome" RELATED [OMIM:277580] +synonym: "Shah-Waardenburg syndrome" RELATED [] synonym: "Waardenburg syndrome caused by mutation in EDNRB" EXACT [MONDO:design_pattern] -synonym: "Waardenburg syndrome type 4A" EXACT CLINGEN_LABEL [] +synonym: "Waardenburg syndrome type 4A" EXACT CLINGEN_LABEL [DOID:0110953] synonym: "Waardenburg syndrome type IVA" EXACT [DOID:0110953] synonym: "Waardenburg syndrome with Hirschsprung disease type 4A" EXACT [DOID:0110953] -synonym: "Waardenburg syndrome with Hirschsprung disease, type 4A" RELATED [OMIM:277580] -synonym: "Waardenburg syndrome, type 4A" RELATED [MONDO:Lexical, OMIM:277580] -synonym: "Waardenburg-Shah syndrome" RELATED [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4, OMIM:277580] -synonym: "Ws4" RELATED [OMIM:277580] +synonym: "Waardenburg syndrome with Hirschsprung disease, type 4A" RELATED [] +synonym: "Waardenburg syndrome, type 4A" RELATED [MONDO:Lexical] +synonym: "Waardenburg-Shah syndrome" RELATED [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4] +synonym: "Ws4" RELATED [] synonym: "WS4A" EXACT ABBREVIATION [DOID:0110953, MONDO:Lexical, OMIM:277580] xref: DOID:0110953 {source="MONDO:equivalentTo"} xref: GARD:15245 {source="MONDO:GARD"} @@ -224676,21 +224712,21 @@ subset: orphanet_rare {source="Orphanet:3447"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "camptodactyly - overgrowth - unusual facies" RELATED [GARD:0007878] -synonym: "camptodactyly-overgrowth-unusual facies syndrome" EXACT [Orphanet:3447] +synonym: "camptodactyly-overgrowth-unusual facies syndrome" EXACT [] synonym: "EZH2 related overgrowth" RELATED [GARD:0007878] synonym: "intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate" RELATED [GTR:AN0102080] synonym: "mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate" RELATED DEPRECATED [GTR:AN0102080] synonym: "overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly" RELATED [GARD:0007878] synonym: "Weaver like syndrome" RELATED [GARD:0007878] synonym: "Weaver Smith syndrome" RELATED [GARD:0007878] -synonym: "WEAVER syndrome" RELATED [OMIM:277590] -synonym: "Weaver syndrome" EXACT [MONDO:Lexical, OMIM:277590] +synonym: "WEAVER syndrome" RELATED [] +synonym: "Weaver syndrome" EXACT [DOID:14731, icd11.foundation:2042913723, MONDO:Lexical, NCIT:C125599, OMIM:277590, Orphanet:3447] synonym: "Weaver Williams syndrome" RELATED [GTR:AN0102079] synonym: "WEAVER-like syndrome" EXACT [DOID:14731] -synonym: "Weaver-like syndrome" RELATED [OMIM:277590] -synonym: "Weaver-Smith syndrome" RELATED [OMIM:277590] -synonym: "Weaver-Williams syndrome" RELATED EXCLUDE [DOID:14731] -synonym: "WVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277590] +synonym: "Weaver-like syndrome" RELATED [] +synonym: "Weaver-Smith syndrome" RELATED [] +synonym: "Weaver-Williams syndrome" RELATED EXCLUDE [] +synonym: "WVS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:14731 {source="MONDO:equivalentTo"} xref: GARD:7878 {source="MONDO:GARD"} xref: GTR:AN0102079 @@ -224730,14 +224766,14 @@ subset: gard_rare {source="GARD:15246", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADAMTS10 Weill-Marchesani syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mesodermal Dysmorphodystrophy, congenital" RELATED [OMIM:277600] -synonym: "spherophakia-brachymorphia syndrome" RELATED [OMIM:277600] +synonym: "mesodermal Dysmorphodystrophy, congenital" RELATED [] +synonym: "spherophakia-brachymorphia syndrome" RELATED [] synonym: "Weill-Marchesani syndrome 1" EXACT [MONDO:Lexical, OMIM:277600] -synonym: "Weill-Marchesani syndrome 1, recessive" EXACT [OMIM:277600, OMIM:genemap2] +synonym: "Weill-Marchesani syndrome 1, recessive" EXACT [] synonym: "Weill-Marchesani syndrome caused by mutation in ADAMTS10" EXACT [MONDO:design_pattern] -synonym: "Weill-Marchesani syndrome type 1" EXACT [MONDORULE:1, OMIM:277600] -synonym: "Weill-Marchesani syndrome, autosomal recessive" RELATED [OMIM:277600] -synonym: "WMS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277600] +synonym: "Weill-Marchesani syndrome type 1" EXACT [MONDORULE:1] +synonym: "Weill-Marchesani syndrome, autosomal recessive" RELATED [] +synonym: "WMS1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15246 {source="MONDO:GARD"} xref: MEDGEN:1637058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:277600 {source="MONDO:equivalentTo"} @@ -224770,12 +224806,12 @@ subset: ordo_disorder {source="Orphanet:902"} subset: orphanet_rare {source="Orphanet:902"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult premature ageing syndrome" EXACT OMO:0003005 [] -synonym: "adult premature aging syndrome" EXACT [DOID:5688] -synonym: "adult progeria" EXACT [DOID:5688, Orphanet:902] -synonym: "Werner syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:277700] -synonym: "Werner's syndrome" EXACT [DOID:5688] -synonym: "WRN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:277700] +synonym: "adult premature ageing syndrome" EXACT OMO:0003005 [DOID:5688] +synonym: "adult premature aging syndrome" EXACT [] +synonym: "adult progeria" EXACT [DOID:5688, NCIT:C3447, Orphanet:902] +synonym: "Werner syndrome" EXACT CLINGEN_LABEL [DOID:5688, icd11.foundation:1864550134, MONDO:Lexical, NCIT:C3447, OMIM:277700, Orphanet:902] +synonym: "Werner's syndrome" EXACT [DOID:5688, NCIT:C3447] +synonym: "WRN" RELATED ABBREVIATION [MONDO:Lexical] synonym: "WS" EXACT ABBREVIATION [DOID:5688, NCIT:C3447, Orphanet:902] xref: DOID:5688 {source="MONDO:equivalentTo"} xref: GARD:7885 {source="MONDO:GARD"} @@ -224829,15 +224865,15 @@ name: Wernicke-Korsakoff syndrome def: "Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed." [https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome] comment: Editor note: todo check subset: otar {source="MONDO:OTAR"} -synonym: "alcohol-induced encephalopathy" RELATED [OMIM:277730] +synonym: "alcohol-induced encephalopathy" RELATED [] synonym: "Korsakoff syndrome" EXACT [DOID:10915] synonym: "Korsakoff's psychosis" EXACT [DOID:10915] synonym: "Korsakoff's syndrome" EXACT [DOID:10915] synonym: "Korsakov psychosis" EXACT [DOID:10915] synonym: "Korsakov's psychosis" EXACT [DOID:10915] -synonym: "transketolase defect" RELATED [OMIM:277730] -synonym: "Wernicke encephalopathy" RELATED [NCIT:C35764] -synonym: "Wernicke-Korsakoff syndrome" EXACT [OMIM:277730] +synonym: "transketolase defect" RELATED [] +synonym: "Wernicke encephalopathy" RELATED [] +synonym: "Wernicke-Korsakoff syndrome" EXACT [DOID:10915, icd11.foundation:2017611840, NCIT:C35764, OMIM:277730] xref: DOID:10915 {source="EFO:1001242", source="MONDO:equivalentTo"} xref: EFO:1001242 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:2017611840 {source="MONDO:equivalentTo"} @@ -224869,7 +224905,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2475"} subset: orphanet_rare {source="Orphanet:2475"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "white forelock with malformations" EXACT [OMIM:277740] +synonym: "white forelock with malformations" EXACT [OMIM:277740, Orphanet:2475] xref: GARD:10081 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2475/attributed", source="Orphanet:2475/ntbt", source="Orphanet:2475"} xref: MEDGEN:376362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -224895,14 +224931,14 @@ subset: orphanet_rare {source="Orphanet:905"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebral pseudosclerosis" EXACT [DOID:893] -synonym: "hepatolenticular Degeneration" RELATED [OMIM:277900] -synonym: "hepatolenticular degeneration" EXACT [DOID:893, Orphanet:905] +synonym: "hepatolenticular Degeneration" RELATED [] +synonym: "hepatolenticular degeneration" EXACT [DOID:893, NCIT:C84756, OMIM:277900, Orphanet:905] synonym: "WD" RELATED ABBREVIATION [GARD:0007893] synonym: "Westphal pseudosclerosis" EXACT [DOID:893] -synonym: "Westphal-Strumpell syndrome" EXACT [DOID:893] -synonym: "Wilson disease" EXACT CLINGEN_LABEL [OMIM:277900] -synonym: "Wilson's disease" EXACT [DOID:893] -synonym: "Wnd" RELATED [OMIM:277900] +synonym: "Westphal-Strumpell syndrome" EXACT [DOID:893, icd11.foundation:468161208] +synonym: "Wilson disease" EXACT CLINGEN_LABEL [DOID:893, icd11.foundation:468161208, NCIT:C84756, OMIM:277900, Orphanet:905] +synonym: "Wilson's disease" EXACT [DOID:893, ICD10CM:E83.01, NCIT:C84756] +synonym: "Wnd" RELATED [] xref: DOID:893 {source="MONDO:equivalentTo"} xref: GARD:7893 {source="MONDO:GARD"} xref: ICD10CM:E83.0 {source="Orphanet:905/inclusion", source="Orphanet:905/ntbt", source="Orphanet:905"} @@ -224952,8 +224988,8 @@ synonym: "multicentric osteolysis, nodulosis and arthropathy" RELATED [GARD:0007 synonym: "multicentric osteolysis, nodulosis and arthropathy, MMP14-related" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:36779427] synonym: "NOA syndrome" RELATED [GARD:0007894] synonym: "nodulosis arthropathy osteolysis syndrome" RELATED [GARD:0007894] -synonym: "Winchester syndrome" EXACT [MONDO:Lexical, OMIM:277950] -synonym: "WNCHRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:277950] +synonym: "Winchester syndrome" EXACT [DOID:0080696, MONDO:Lexical, NCIT:C170731, OMIM:277950] +synonym: "WNCHRS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C170731, OMIM:277950] xref: DOID:0080696 {source="MONDO:equivalentTo"} xref: GARD:7894 {source="MONDO:GARD"} xref: ICD9:733.29 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -224989,8 +225025,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:3080"} subset: orphanet_rare {source="Orphanet:3080"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "WOLFF intellectual disability syndrome" RELATED [OMIM:277990] -synonym: "WOLFF mental retardation syndrome" RELATED DEPRECATED [OMIM:277990] +synonym: "WOLFF intellectual disability syndrome" RELATED [] +synonym: "WOLFF mental retardation syndrome" RELATED DEPRECATED [] synonym: "Wolff-Zimmermann syndrome" EXACT [Orphanet:3080] xref: GARD:3530 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:3080", source="Orphanet:3080/attributed", source="Orphanet:3080/ntbt"} @@ -225029,15 +225065,15 @@ def: "Any hypotrichosis in which the cause of the disease is a mutation in the L subset: gard_rare {source="GARD:15247", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hypotrichosis 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:278150] +synonym: "hypotrichosis 8" EXACT CLINGEN_LABEL [DOID:0110705, MONDO:Lexical, OMIM:278150] synonym: "hypotrichosis caused by mutation in LPAR6" EXACT [MONDO:design_pattern] -synonym: "hypotrichosis type 8" EXACT [DOID:0110705, MONDORULE:1, OMIM:278150] +synonym: "hypotrichosis type 8" EXACT [MONDORULE:1] synonym: "hypotrichosis, localized, autosomal recessive 3" EXACT [DOID:0110705, OMIM:278150] synonym: "HYPT8" EXACT ABBREVIATION [DOID:0110705, MONDO:Lexical, OMIM:278150] synonym: "LAH3" EXACT ABBREVIATION [DOID:0110705] synonym: "LPAR6 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "woolly hair, autosomal recessive 1, with or without hypotrichosis" RELATED OMO:0003005 [] -synonym: "wooly hair, autosomal recessive 1, with or without hypotrichosis" RELATED [OMIM:278150] +synonym: "wooly hair, autosomal recessive 1, with or without hypotrichosis" RELATED [] xref: DOID:0110705 {source="MONDO:equivalentTo"} xref: GARD:15247 {source="MONDO:GARD"} xref: MEDGEN:481100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -225058,12 +225094,12 @@ id: MONDO:0010207 name: wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome subset: ordo_malformation_syndrome {source="Orphanet:1409"} subset: otar {source="MONDO:OTAR"} -synonym: "Salamon syndrome" EXACT [OMIM:278200, Orphanet:1409] +synonym: "Salamon syndrome" EXACT [OMIM:278200] synonym: "woolly hair hypotrichosis everted lower lip and outstanding ears" RELATED OMO:0003005 [] synonym: "woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" RELATED OMO:0003005 [] synonym: "wooly hair hypotrichosis everted lower lip and outstanding ears" RELATED [GARD:0005594] -synonym: "wooly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" RELATED [OMIM:278200] -synonym: "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome" EXACT [Orphanet:1409] +synonym: "wooly hair, hypotrichosis, everted LOWER LIP, and outstanding ears" RELATED [] +synonym: "wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome" EXACT [] xref: MEDGEN:98033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536746 {source="Orphanet:1409/e", source="MONDO:equivalentTo", source="Orphanet:1409"} xref: OMIM:278200 {source="Orphanet:1409/e", source="MONDO:equivalentTo", source="Orphanet:1409"} @@ -225082,8 +225118,8 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:2834"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "wrinkled skin syndrome" EXACT [Orphanet:2834] -synonym: "wrinkly skin syndrome" EXACT [MONDO:Lexical, OMIM:278250] -synonym: "WSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:278250, Orphanet:2834] +synonym: "wrinkly skin syndrome" EXACT [DOID:0112171, icd11.foundation:638767040, MONDO:Lexical, OMIM:278250, Orphanet:2834] +synonym: "WSS" EXACT ABBREVIATION [DOID:0112171, MONDO:Lexical, OMIM:278250, Orphanet:2834] xref: DOID:0112171 {source="MONDO:equivalentTo"} xref: GARD:273 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:2834", source="Orphanet:2834/attributed", source="Orphanet:2834/ntbt"} @@ -225115,17 +225151,17 @@ subset: rare synonym: "hereditary xanthinuria, type I" RELATED [] synonym: "isolated xanthine oxidase deficiency" EXACT [] synonym: "type 1 xanthinuria" RELATED [GARD:0005621] -synonym: "XAN1" EXACT ABBREVIATION [MESH:C562584] +synonym: "XAN1" EXACT ABBREVIATION [DOID:0070452, MESH:C562584, OMIM:278300] synonym: "xanthine dehydrogenase deficiency" BROAD [MESH:C562584] synonym: "xanthine oxidase deficiency" BROAD [MESH:C562584] -synonym: "xanthine oxidoreductase deficiency" BROAD [Orphanet:93601] +synonym: "xanthine oxidoreductase deficiency" BROAD [] synonym: "xanthinuria type 1" EXACT [GARD:0005621] -synonym: "xanthinuria type I" EXACT CLINGEN_LABEL [] +synonym: "xanthinuria type I" EXACT CLINGEN_LABEL [DOID:0070452, Orphanet:93601] synonym: "xanthinuria, type 1" EXACT [OMIM:278300] -synonym: "xanthinuria, type I" EXACT [OMIM:278300] -synonym: "XDH deficiency" BROAD [MESH:C562584, OMIM:278300, Orphanet:93601] -synonym: "XO deficiency" BROAD [Orphanet:93601] -synonym: "XOR deficiency" BROAD [Orphanet:93601] +synonym: "xanthinuria, type I" EXACT [] +synonym: "XDH deficiency" BROAD [MESH:C562584] +synonym: "XO deficiency" BROAD [] +synonym: "XOR deficiency" BROAD [] xref: DOID:0070452 {source="MONDO:equivalentTo"} xref: GARD:5621 {source="MONDO:GARD"} xref: ICD10CM:E79.8 {source="Orphanet:93601", source="Orphanet:93601/attributed", source="Orphanet:93601/ntbt"} @@ -225152,15 +225188,15 @@ subset: rare synonym: "xeroderma pigmentosum 1" EXACT [DOID:0110843, OMIM:278700] synonym: "xeroderma pigmentosum caused by mutation in XPA" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum complementation group A" EXACT [DOID:0110843] -synonym: "xeroderma pigmentosum group A" EXACT CLINGEN_LABEL [] -synonym: "xeroderma pigmentosum group type A" EXACT [DOID:0110843, MONDORULE:1] -synonym: "xeroderma pigmentosum, complementation group A" RELATED [MONDO:Lexical, OMIM:278700] -synonym: "xeroderma pigmentosum, complementation group type a" EXACT [MONDORULE:1, OMIM:278700] -synonym: "xeroderma pigmentosum, group A" EXACT [OMIM:278700, OMIM:genemap2] +synonym: "xeroderma pigmentosum group A" EXACT CLINGEN_LABEL [DOID:0110843, NCIT:C3965] +synonym: "xeroderma pigmentosum group type A" EXACT [MONDORULE:1] +synonym: "xeroderma pigmentosum, complementation group A" RELATED [MONDO:Lexical] +synonym: "xeroderma pigmentosum, complementation group type a" EXACT [MONDORULE:1] +synonym: "xeroderma pigmentosum, group A" EXACT [] synonym: "xeroderma pigmentosum, type 1" RELATED [GARD:0005624] synonym: "XP group A" EXACT [DOID:0110843] -synonym: "XP, group A" RELATED [OMIM:278700] -synonym: "XP-A" EXACT [NCIT:C3965] +synonym: "XP, group A" RELATED [] +synonym: "XP-A" EXACT ABBREVIATION [NCIT:C3965] synonym: "XP1" EXACT ABBREVIATION [DOID:0110843] synonym: "XPA" EXACT ABBREVIATION [DOID:0110843, MONDO:Lexical, OMIM:278700] synonym: "XPA xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -225190,17 +225226,17 @@ subset: gard_rare {source="GARD:5626", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "xeroderma pigmentosum 3" RELATED [OMIM:278720] -synonym: "xeroderma pigmentosum group C" EXACT CLINGEN_LABEL [] -synonym: "xeroderma pigmentosum group type C" EXACT [DOID:0110844, MONDORULE:1] +synonym: "xeroderma pigmentosum 3" RELATED [] +synonym: "xeroderma pigmentosum group C" EXACT CLINGEN_LABEL [DOID:0110844, NCIT:C114770] +synonym: "xeroderma pigmentosum group type C" EXACT [MONDORULE:1] synonym: "xeroderma pigmentosum III" EXACT [DOID:0110844] -synonym: "xeroderma pigmentosum, complementation group C" RELATED [MONDO:Lexical, OMIM:278720] -synonym: "xeroderma pigmentosum, complementation group type C" EXACT [MONDORULE:1, OMIM:278720] -synonym: "xeroderma pigmentosum, group C" EXACT [OMIM:278720, OMIM:genemap2] +synonym: "xeroderma pigmentosum, complementation group C" RELATED [MONDO:Lexical] +synonym: "xeroderma pigmentosum, complementation group type C" EXACT [MONDORULE:1] +synonym: "xeroderma pigmentosum, group C" EXACT [] synonym: "xeroderma pigmentosum, type 3" RELATED [GARD:0005626] synonym: "XP group C" EXACT [DOID:0110844] -synonym: "XP, Group C" RELATED [OMIM:278720] -synonym: "XP-C" EXACT [NCIT:C114770] +synonym: "XP, Group C" RELATED [] +synonym: "XP-C" EXACT ABBREVIATION [NCIT:C114770] synonym: "XP3" EXACT ABBREVIATION [DOID:0110844] synonym: "XPC" EXACT ABBREVIATION [DOID:0110844, MONDO:Lexical, OMIM:278720] synonym: "XPCC" EXACT ABBREVIATION [DOID:0110844, OMIM:278720] @@ -225230,24 +225266,24 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ERCC2 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "xeroderma pigmentosum 4" RELATED [OMIM:278730] +synonym: "xeroderma pigmentosum 4" RELATED [] synonym: "xeroderma pigmentosum caused by mutation in ERCC2" EXACT [MONDO:design_pattern] -synonym: "xeroderma pigmentosum group D" EXACT CLINGEN_LABEL [] -synonym: "xeroderma pigmentosum group type D" EXACT [DOID:0110845, MONDORULE:1] +synonym: "xeroderma pigmentosum group D" EXACT CLINGEN_LABEL [DOID:0110845, NCIT:C3967] +synonym: "xeroderma pigmentosum group type D" EXACT [MONDORULE:1] synonym: "xeroderma pigmentosum IV" EXACT [DOID:0110845] synonym: "xeroderma pigmentosum VIII" EXACT [DOID:0110845] -synonym: "xeroderma pigmentosum, complementation group D" RELATED [MONDO:Lexical, OMIM:278730] -synonym: "xeroderma pigmentosum, complementation group type D" EXACT [MONDORULE:1, OMIM:278730] -synonym: "xeroderma pigmentosum, group D" EXACT [OMIM:278730, OMIM:genemap2] +synonym: "xeroderma pigmentosum, complementation group D" RELATED [MONDO:Lexical] +synonym: "xeroderma pigmentosum, complementation group type D" EXACT [MONDORULE:1] +synonym: "xeroderma pigmentosum, group D" EXACT [] synonym: "XP group D" EXACT [DOID:0110845] synonym: "XP group H" EXACT [DOID:0110845] -synonym: "XP, Group D" RELATED [OMIM:278730] -synonym: "XP, Group H" RELATED [OMIM:278730] -synonym: "XP, Group H, formerly" RELATED [OMIM:278730] -synonym: "XP-D" EXACT [NCIT:C3967] +synonym: "XP, Group D" RELATED [] +synonym: "XP, Group H" RELATED [] +synonym: "XP, Group H, formerly" RELATED [] +synonym: "XP-D" EXACT ABBREVIATION [NCIT:C3967] synonym: "XP4" EXACT ABBREVIATION [DOID:0110845] -synonym: "XP4 xeroderma pigmentosum VIII" RELATED [OMIM:278730] -synonym: "XP4 xeroderma pigmentosum VIII, formerly" RELATED [OMIM:278730] +synonym: "XP4 xeroderma pigmentosum VIII" RELATED [] +synonym: "XP4 xeroderma pigmentosum VIII, formerly" RELATED [] synonym: "XP8" EXACT ABBREVIATION [DOID:0110845] synonym: "XPD" EXACT ABBREVIATION [DOID:0110845, MONDO:Lexical, OMIM:278730] synonym: "XPDC" EXACT ABBREVIATION [DOID:0110845] @@ -225281,20 +225317,20 @@ subset: gard_rare {source="GARD:5627", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "xeroderma pigmentosum 5" RELATED [OMIM:278740] -synonym: "xeroderma pigmentosum group E" EXACT CLINGEN_LABEL [] -synonym: "xeroderma pigmentosum group type E" EXACT [DOID:0110846, MONDORULE:1] +synonym: "xeroderma pigmentosum 5" RELATED [] +synonym: "xeroderma pigmentosum group E" EXACT CLINGEN_LABEL [DOID:0110846, NCIT:C114771] +synonym: "xeroderma pigmentosum group type E" EXACT [MONDORULE:1] synonym: "xeroderma pigmentosum V" EXACT [DOID:0110846] -synonym: "xeroderma pigmentosum, complementation group E" RELATED [OMIM:278740] -synonym: "xeroderma pigmentosum, complementation group type E" EXACT [MONDORULE:1, OMIM:278740] -synonym: "xeroderma pigmentosum, group E, DDB-negative subtype" EXACT [OMIM:278740, OMIM:genemap2] +synonym: "xeroderma pigmentosum, complementation group E" RELATED [] +synonym: "xeroderma pigmentosum, complementation group type E" EXACT [MONDORULE:1] +synonym: "xeroderma pigmentosum, group E, DDB-negative subtype" EXACT [] synonym: "xeroderma pigmentosum, type 5" RELATED [GARD:0005627] synonym: "XP group E" EXACT [DOID:0110846] -synonym: "XP, Group E" RELATED [OMIM:278740] -synonym: "XP-E" EXACT [NCIT:C114771] +synonym: "XP, Group E" RELATED [] +synonym: "XP-E" EXACT ABBREVIATION [NCIT:C114771] synonym: "XP5" EXACT ABBREVIATION [DOID:0110846] -synonym: "XPE" EXACT ABBREVIATION [DOID:0110846] -synonym: "XPe" RELATED [OMIM:278740] +synonym: "XPE" EXACT ABBREVIATION [DOID:0110846, OMIM:278740] +synonym: "XPe" RELATED [] xref: DOID:0110846 {source="MONDO:equivalentTo"} xref: GARD:5627 {source="MONDO:GARD"} xref: ICD10CM:Q82.1 {source="DOID:0110846"} @@ -225323,11 +225359,11 @@ subset: orphanet_rare {source="Orphanet:90342"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "photosensitivity with defective DNA synthesis" EXACT [DOID:0110847, OMIM:278750] -synonym: "xeroderma pigmentosum variant" RELATED [Orphanet:90342] -synonym: "xeroderma pigmentosum variant type" EXACT CLINGEN_LABEL [] +synonym: "xeroderma pigmentosum variant" RELATED [] +synonym: "xeroderma pigmentosum variant type" EXACT CLINGEN_LABEL [DOID:0110847, NCIT:C141367] synonym: "xeroderma pigmentosum with normal DNA repair rates" EXACT [DOID:0110847, OMIM:278750] -synonym: "xeroderma pigmentosum, variant type" RELATED [MONDO:Lexical, OMIM:278750] -synonym: "XPV" EXACT ABBREVIATION [DOID:0110847, MONDO:Lexical, OMIM:278750, Orphanet:90342] +synonym: "xeroderma pigmentosum, variant type" RELATED [MONDO:Lexical] +synonym: "XPV" EXACT ABBREVIATION [DOID:0110847, MONDO:Lexical, NCIT:C141367, OMIM:278750, Orphanet:90342] xref: DOID:0110847 {source="MONDO:equivalentTo"} xref: GARD:5630 {source="MONDO:GARD"} xref: ICD10CM:Q82.1 {source="DOID:0110847", source="Orphanet:90342", source="Orphanet:90342/attributed", source="Orphanet:90342/ntbt"} @@ -225353,19 +225389,19 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ERCC4 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "xeroderma pigmentosum 6" RELATED [OMIM:278760] +synonym: "xeroderma pigmentosum 6" RELATED [] synonym: "xeroderma pigmentosum caused by mutation in ERCC4" EXACT [MONDO:design_pattern] -synonym: "xeroderma pigmentosum group F" EXACT CLINGEN_LABEL [] -synonym: "xeroderma pigmentosum group type F" EXACT [DOID:0110848, MONDORULE:1] +synonym: "xeroderma pigmentosum group F" EXACT CLINGEN_LABEL [DOID:0110848, NCIT:C3968] +synonym: "xeroderma pigmentosum group type F" EXACT [MONDORULE:1] synonym: "xeroderma pigmentosum VI" EXACT [DOID:0110848] -synonym: "xeroderma pigmentosum, complementation group F" RELATED [MONDO:Lexical, OMIM:278760] -synonym: "xeroderma pigmentosum, complementation group type F" EXACT [MONDORULE:1, OMIM:278760] -synonym: "xeroderma pigmentosum, group F" EXACT [OMIM:278760, OMIM:genemap2] +synonym: "xeroderma pigmentosum, complementation group F" RELATED [MONDO:Lexical] +synonym: "xeroderma pigmentosum, complementation group type F" EXACT [MONDORULE:1] +synonym: "xeroderma pigmentosum, group F" EXACT [] synonym: "xeroderma pigmentosum, type 6" RELATED [GARD:0005628] -synonym: "xeroderma pigmentosum, type F/Cockayne syndrome" RELATED [OMIM:278760] -synonym: "XP group F" EXACT [DOID:0110848, OMIM:278760] +synonym: "xeroderma pigmentosum, type F/Cockayne syndrome" RELATED [] +synonym: "XP group F" EXACT [DOID:0110848] synonym: "XP, group F" EXACT [OMIM:278760] -synonym: "XP-F" EXACT [NCIT:C3968] +synonym: "XP-F" EXACT ABBREVIATION [NCIT:C3968] synonym: "XP6" EXACT ABBREVIATION [DOID:0110848] synonym: "XPF" EXACT ABBREVIATION [DOID:0110848, MONDO:Lexical, OMIM:278760] xref: DOID:0110848 {source="MONDO:equivalentTo"} @@ -225399,21 +225435,21 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ERCC5 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "xeroderma pigmentosum 7" RELATED [OMIM:278780] +synonym: "xeroderma pigmentosum 7" RELATED [] synonym: "xeroderma pigmentosum caused by mutation in ERCC5" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum complementation group G" RELATED [GARD:0005629] -synonym: "xeroderma pigmentosum group G" EXACT CLINGEN_LABEL [] -synonym: "xeroderma pigmentosum group type G" EXACT [DOID:0110849, MONDORULE:1] +synonym: "xeroderma pigmentosum group G" EXACT CLINGEN_LABEL [DOID:0110849, NCIT:C3969] +synonym: "xeroderma pigmentosum group type G" EXACT [MONDORULE:1] synonym: "xeroderma pigmentosum type 7" RELATED [GARD:0005629] synonym: "xeroderma pigmentosum VII" EXACT [DOID:0110849] -synonym: "xeroderma pigmentosum, complementation group G" RELATED [MONDO:Lexical, OMIM:278780] -synonym: "xeroderma pigmentosum, complementation group type G" EXACT [MONDORULE:1, OMIM:278780] -synonym: "xeroderma pigmentosum, group G" EXACT [OMIM:278780, OMIM:genemap2] -synonym: "xeroderma pigmentosum, group G/Cockayne syndrome" EXACT [OMIM:278780, OMIM:genemap2] -synonym: "xeroderma pigmentosum, type G/Cockayne syndrome" RELATED [OMIM:278780] +synonym: "xeroderma pigmentosum, complementation group G" RELATED [MONDO:Lexical] +synonym: "xeroderma pigmentosum, complementation group type G" EXACT [MONDORULE:1] +synonym: "xeroderma pigmentosum, group G" EXACT [] +synonym: "xeroderma pigmentosum, group G/Cockayne syndrome" EXACT [] +synonym: "xeroderma pigmentosum, type G/Cockayne syndrome" RELATED [] synonym: "XP group G" EXACT [DOID:0110849] -synonym: "XP, Group G" RELATED [OMIM:278780] -synonym: "XP-G" EXACT [NCIT:C3969] +synonym: "XP, Group G" RELATED [] +synonym: "XP-G" EXACT ABBREVIATION [NCIT:C3969] synonym: "XP7" EXACT ABBREVIATION [DOID:0110849] synonym: "XPG" EXACT ABBREVIATION [DOID:0110849, MONDO:Lexical, OMIM:278780] xref: DOID:0110849 {source="MONDO:equivalentTo"} @@ -225449,7 +225485,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1035"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "De Sanctis Cacchione Syndrome" EXACT [NORD:1035] -synonym: "de Sanctis-Cacchione syndrome" EXACT [OMIM:278800] +synonym: "de Sanctis-Cacchione syndrome" EXACT [DOID:0112158, icd11.foundation:594988031, NCIT:C84666] synonym: "xerodermic idiocy" RELATED [GARD:0008276] xref: DOID:0112158 {source="MONDO:equivalentTo"} xref: GARD:8276 {source="MONDO:GARD"} @@ -225474,12 +225510,12 @@ name: 46,XX sex reversal 2 subset: gard_rare {source="GARD:15249", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "46,XX SEX reversal 2" RELATED [OMIM:278850] -synonym: "46,XX sex reversal 2" EXACT [MONDO:Lexical, OMIM:278850] -synonym: "46,XX Sex reversal type 2" EXACT [MONDORULE:1, OMIM:278850] -synonym: "46XX sex reversal 2" EXACT [OMIM:278850, OMIM:genemap2] -synonym: "chromosome 17Q24 Duplication syndrome" RELATED [OMIM:278850] -synonym: "SRXX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:278850] +synonym: "46,XX SEX reversal 2" RELATED [] +synonym: "46,XX sex reversal 2" EXACT [DOID:0111763, MONDO:Lexical, OMIM:278850] +synonym: "46,XX Sex reversal type 2" EXACT [MONDORULE:1] +synonym: "46XX sex reversal 2" EXACT [] +synonym: "chromosome 17Q24 Duplication syndrome" RELATED [] +synonym: "SRXX2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111763 {source="MONDO:equivalentTo"} xref: GARD:15249 {source="MONDO:GARD"} xref: MEDGEN:411414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -225510,12 +225546,12 @@ subset: orphanet_rare {source="Orphanet:3471"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "azoospermia obstructive and chronic sinopulmonary infections" RELATED [GARD:0000341] -synonym: "azoospermia, obstructive, and chronic sinopulmonary infections" RELATED [OMIM:279000] +synonym: "azoospermia, obstructive, and chronic sinopulmonary infections" RELATED [] synonym: "azoospermia-sinopulmonary infections syndrome" EXACT [Orphanet:3471] synonym: "Barry Perkins Young syndrome" RELATED [GARD:0000341] -synonym: "Barry-Perkins-Young syndrome" RELATED [OMIM:279000] -synonym: "sinusitis-infertility syndrome" RELATED [OMIM:279000] -synonym: "young syndrome" EXACT [OMIM:279000] +synonym: "Barry-Perkins-Young syndrome" RELATED [] +synonym: "sinusitis-infertility syndrome" RELATED [] +synonym: "young syndrome" EXACT [icd11.foundation:1628320490, OMIM:279000, Orphanet:3471] xref: GARD:341 {source="MONDO:GARD"} xref: ICD10CM:N46 {source="Orphanet:3471/attributed", source="Orphanet:3471/ntbt", source="Orphanet:3471"} xref: icd11.foundation:1628320490 {source="MONDO:equivalentTo", source="Orphanet:3471"} @@ -225541,18 +225577,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:3474"} subset: orphanet_rare {source="Orphanet:3474"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CHIME" RELATED DEPRECATED [MONDO:Lexical, OMIM:280000] -synonym: "CHIME syndrome" EXACT [OMIM:280000] -synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome" RELATED [MONDO:Lexical, OMIM:280000] -synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:280000] -synonym: "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" EXACT [Orphanet:3474] -synonym: "congenital disorder of glycosylation due to PIGL deficiency" EXACT [Orphanet:3474] -synonym: "glycosylphosphatidylinositol biosynthesis defect 5" RELATED [OMIM:280000] -synonym: "neuroectodermal dysplasia, CHIME type" EXACT [Orphanet:3474] -synonym: "neuroectodermal syndrome, Zunich type" EXACT [Orphanet:3474] -synonym: "PIGL-CDG" EXACT [Orphanet:3474] -synonym: "Zunich neuroectodermal syndrome" RELATED [OMIM:280000] -synonym: "Zunich-Kaye syndrome" EXACT [Orphanet:3474] +synonym: "CHIME" RELATED DEPRECATED [MONDO:Lexical] +synonym: "CHIME syndrome" EXACT [DOID:0112152, OMIM:280000, Orphanet:3474] +synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome" RELATED [MONDO:Lexical] +synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome" RELATED DEPRECATED [MONDO:Lexical] +synonym: "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" EXACT [DOID:0112152, Orphanet:3474] +synonym: "congenital disorder of glycosylation due to PIGL deficiency" EXACT [DOID:0112152, Orphanet:3474] +synonym: "glycosylphosphatidylinositol biosynthesis defect 5" RELATED [] +synonym: "neuroectodermal dysplasia, CHIME type" EXACT [DOID:0112152, Orphanet:3474] +synonym: "neuroectodermal syndrome, Zunich type" EXACT [DOID:0112152, Orphanet:3474] +synonym: "PIGL-CDG" EXACT ABBREVIATION [DOID:0112152, Orphanet:3474] +synonym: "Zunich neuroectodermal syndrome" RELATED [] +synonym: "Zunich-Kaye syndrome" EXACT [DOID:0112152, Orphanet:3474] xref: DOID:0112152 {source="MONDO:equivalentTo"} xref: GARD:310 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3474", source="Orphanet:3474/attributed", source="Orphanet:3474/ntbt"} @@ -225587,23 +225623,23 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1868"} subset: ordo_etiological_subtype {source="Orphanet:306597"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GBBB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300000] -synonym: "hypertelorism with esophageal Abnormality and hypospadias" RELATED [OMIM:300000] -synonym: "hypertelorism-hypospadias syndrome" RELATED [OMIM:300000] -synonym: "Opitz Bbbg syndrome, type 1" RELATED [OMIM:300000] +synonym: "GBBB1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypertelorism with esophageal Abnormality and hypospadias" RELATED [] +synonym: "hypertelorism-hypospadias syndrome" RELATED [] +synonym: "Opitz Bbbg syndrome, type 1" RELATED [] synonym: "Opitz G/BBB syndrome, X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "Opitz GBBB syndrome, type 1" RELATED [OMIM:300000] -synonym: "Opitz GBBB syndrome, type I" RELATED [MONDO:Lexical, OMIM:300000] -synonym: "Opitz GBBB syndrome, type I, X-linked recessive" EXACT [OMIM:300000, OMIM:genemap2] -synonym: "Opitz GBBB syndrome, X-linked" RELATED [OMIM:300000] -synonym: "Opitz syndrome" RELATED [OMIM:300000] -synonym: "Opitz syndrome, X-linked" RELATED [OMIM:300000] -synonym: "Opitz-G syndrome, type 1" RELATED [OMIM:300000] -synonym: "telecanthus-hypospadias syndrome" RELATED [OMIM:300000] -synonym: "X-linked Opitz BBB/G syndrome" EXACT [Orphanet:306597] +synonym: "Opitz GBBB syndrome, type 1" RELATED [] +synonym: "Opitz GBBB syndrome, type I" RELATED [MONDO:Lexical] +synonym: "Opitz GBBB syndrome, type I, X-linked recessive" EXACT [] +synonym: "Opitz GBBB syndrome, X-linked" RELATED [] +synonym: "Opitz syndrome" RELATED [] +synonym: "Opitz syndrome, X-linked" RELATED [] +synonym: "Opitz-G syndrome, type 1" RELATED [] +synonym: "telecanthus-hypospadias syndrome" RELATED [] +synonym: "X-linked Opitz BBB/G syndrome" EXACT [] synonym: "X-linked Opitz G/BBB syndrome" EXACT CLINGEN_LABEL [] -synonym: "X-linked Opitz syndrome" EXACT [Orphanet:306597] -synonym: "XLOS" EXACT ABBREVIATION [Orphanet:306597] +synonym: "X-linked Opitz syndrome" EXACT [] +synonym: "XLOS" EXACT ABBREVIATION [] xref: ICD10CM:Q87.8 {source="Orphanet:306597/attributed", source="Orphanet:306597/ntbt", source="Orphanet:306597"} xref: MEDGEN:424842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NORD:1868 {source="MONDO:NORD"} @@ -225648,14 +225684,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:2508"} subset: orphanet_rare {source="Orphanet:2508"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACC with abnormal genitalia" RELATED [OMIM:300004] +synonym: "ACC with abnormal genitalia" RELATED [] synonym: "ACC-abnormal genitalia syndrome" EXACT [Orphanet:2508] -synonym: "corpus callosum, agenesis of, with abnormal genitalia" RELATED [OMIM:300004] -synonym: "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome" EXACT [Orphanet:2508] +synonym: "corpus callosum, agenesis of, with abnormal genitalia" RELATED [] +synonym: "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome" EXACT [DOID:0112151, Orphanet:2508] synonym: "New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum" RELATED [GARD:0004528] synonym: "Proud Levine Carpenter syndrome" RELATED [GARD:0004528] -synonym: "Proud syndrome" EXACT [OMIM:300004, Orphanet:2508] -synonym: "Proud-Levine-Carpenter syndrome" EXACT [Orphanet:2508] +synonym: "Proud syndrome" EXACT [DOID:0112151, OMIM:300004, Orphanet:2508] +synonym: "Proud-Levine-Carpenter syndrome" EXACT [DOID:0112151, Orphanet:2508] xref: DOID:0112151 {source="MONDO:equivalentTo"} xref: GARD:4528 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2508/attributed", source="Orphanet:2508/ntbt", source="Orphanet:2508"} @@ -225679,14 +225715,14 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93622"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CLCN5 Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DENT disease 1" RELATED [OMIM:300009] -synonym: "dent disease 1, X-linked recessive" EXACT [OMIM:300009, OMIM:genemap2] +synonym: "DENT disease 1" RELATED [] +synonym: "dent disease 1, X-linked recessive" EXACT [] synonym: "Dent disease caused by mutation in CLCN5" EXACT [MONDO:design_pattern] -synonym: "Dent disease type 1" EXACT CLINGEN_LABEL [MONDORULE:1, OMIM:300009] -synonym: "nephrolithiasis 2" RELATED [OMIM:300009] -synonym: "nephrolithiasis type 1" EXACT [Orphanet:93622] -synonym: "nephrolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009] -synonym: "urolithiasis, hypercalciuric, X-linked" RELATED [OMIM:300009] +synonym: "Dent disease type 1" EXACT CLINGEN_LABEL [icd11.foundation:1984074789, MONDORULE:1, Orphanet:93622] +synonym: "nephrolithiasis 2" RELATED [] +synonym: "nephrolithiasis type 1" EXACT [] +synonym: "nephrolithiasis, hypercalciuric, X-linked" RELATED [] +synonym: "urolithiasis, hypercalciuric, X-linked" RELATED [] xref: DOID:0081453 {source="MONDO:equivalentTo"} xref: GARD:1804 {source="MONDO:GARD"} xref: ICD10CM:N25.8 {source="Orphanet:93622", source="Orphanet:93622/attributed", source="Orphanet:93622/ntbt"} @@ -225710,13 +225746,13 @@ name: 46,XY sex reversal 2 subset: gard_rare {source="GARD:9159", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "46,XY SEX reversal 2" RELATED [OMIM:300018] -synonym: "46,XY sex reversal 2" EXACT [MONDO:Lexical, OMIM:300018] -synonym: "46,XY Sex reversal type 2" EXACT [MONDORULE:1, OMIM:300018] -synonym: "46,XY Sex reversal, Dax1-related" RELATED [OMIM:300018] -synonym: "46XY sex reversal 2, dosage-sensitive" EXACT [OMIM:300018, OMIM:genemap2] -synonym: "dosage-sensitive Sex reversal" RELATED [OMIM:300018] -synonym: "SRXY2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300018] +synonym: "46,XY SEX reversal 2" RELATED [] +synonym: "46,XY sex reversal 2" EXACT [DOID:0111777, MONDO:Lexical, OMIM:300018] +synonym: "46,XY Sex reversal type 2" EXACT [MONDORULE:1] +synonym: "46,XY Sex reversal, Dax1-related" RELATED [] +synonym: "46XY sex reversal 2, dosage-sensitive" EXACT [DOID:0111777] +synonym: "dosage-sensitive Sex reversal" RELATED [] +synonym: "SRXY2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111777 {source="MONDO:equivalentTo"} xref: GARD:9159 {source="MONDO:GARD"} xref: MEDGEN:341190 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -225738,12 +225774,12 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:10381", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Choroidoretinal Degeneration with retinal reflex in heterozygous Women" RELATED [OMIM:300029] -synonym: "cone-rod Degeneration, X-linked" RELATED [OMIM:300029] -synonym: "retinitis pigmentosa 15" RELATED [OMIM:300029] -synonym: "retinitis pigmentosa 3" EXACT [MONDO:Lexical, OMIM:300029] +synonym: "Choroidoretinal Degeneration with retinal reflex in heterozygous Women" RELATED [] +synonym: "cone-rod Degeneration, X-linked" RELATED [] +synonym: "retinitis pigmentosa 15" RELATED [] +synonym: "retinitis pigmentosa 3" EXACT [DOID:0110414, MONDO:Lexical, OMIM:300029] synonym: "retinitis pigmentosa caused by mutation in RPGR" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 3" EXACT [DOID:0110414, MONDORULE:1, OMIM:300029] +synonym: "retinitis pigmentosa type 3" EXACT [MONDORULE:1] synonym: "RP3" EXACT ABBREVIATION [DOID:0110414, MONDO:Lexical, OMIM:300029] synonym: "RPGR retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110414 {source="MONDO:equivalentTo"} @@ -225764,9 +225800,9 @@ subset: gard_rare {source="GARD:18095", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "deafness X-linked, DFN3" NARROW [GARD:0001707] -synonym: "deafness, X-linked 3" NARROW [MONDO:Lexical, OMIM:300030, OMIM:genemap2] -synonym: "deafness, X-linked 4, congenital sensorineural" NARROW [OMIM:300030] -synonym: "DFNX3" NARROW ABBREVIATION [MONDO:Lexical, OMIM:300030] +synonym: "deafness, X-linked 3" NARROW [MONDO:Lexical] +synonym: "deafness, X-linked 4, congenital sensorineural" NARROW [] +synonym: "DFNX3" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0111736 {source="MONDO:equivalentTo"} xref: GARD:18095 {source="MONDO:GARD"} xref: MEDGEN:854758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -225785,7 +225821,7 @@ def: "A congenital condition characterized by the absence of hair on the scalp o subset: gard_rare {source="GARD:1470", source="MONDO:GARD"} subset: rare synonym: "alopecia, congenital" EXACT [MONDO:Lexical, OMIM:300042] -synonym: "ALPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300042] +synonym: "ALPC" RELATED ABBREVIATION [MONDO:Lexical] synonym: "congenital alopecia" EXACT [NCIT:C35790] xref: GARD:1470 {source="MONDO:GARD"} xref: MEDGEN:78581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -225805,9 +225841,9 @@ name: intellectual disability, X-linked 23 subset: gard_rare {source="GARD:22666", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 23" EXACT [MONDO:Lexical, OMIM:300046] -synonym: "mental retardation, X-linked 23" RELATED DEPRECATED [MONDO:Lexical, OMIM:300046] -synonym: "MRX23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300046] +synonym: "intellectual disability, X-linked 23" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 23" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRX23" EXACT ABBREVIATION [DOID:0112049, MONDO:Lexical] xref: DOID:0112049 {source="MONDO:equivalentTo"} xref: GARD:22666 {source="MONDO:GARD"} xref: MEDGEN:163234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -225822,9 +225858,9 @@ name: intellectual disability, X-linked 20 subset: gard_rare {source="GARD:22667", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 20" EXACT [MONDO:Lexical, OMIM:300047] -synonym: "mental retardation, X-linked 20" RELATED DEPRECATED [MONDO:Lexical, OMIM:300047] -synonym: "MRX20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300047] +synonym: "intellectual disability, X-linked 20" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 20" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRX20" EXACT ABBREVIATION [DOID:0112023, MONDO:Lexical] xref: DOID:0112023 {source="MONDO:equivalentTo"} xref: GARD:22667 {source="MONDO:GARD"} xref: MEDGEN:208677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -225842,16 +225878,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CIIP" RELATED ABBREVIATION [GARD:0003017] synonym: "CIIP X-linked" RELATED [GARD:0003017] -synonym: "Ciip, X-linked" RELATED [OMIM:300048] +synonym: "Ciip, X-linked" RELATED [] synonym: "CIIPX" RELATED ABBREVIATION [GARD:0003017] -synonym: "congenital idiopathic intestinal pseudoobstruction" RELATED [OMIM:300048] -synonym: "congenital short bowel syndrome, X-linked" RELATED [OMIM:300048] -synonym: "congenital short bowel syndrome, X-linked recessive" EXACT [OMIM:300048, OMIM:genemap2] +synonym: "congenital idiopathic intestinal pseudoobstruction" RELATED [] +synonym: "congenital short bowel syndrome, X-linked" RELATED [] +synonym: "congenital short bowel syndrome, X-linked recessive" EXACT [] synonym: "intestinal pseudoobstruction neuronal chronic idiopathic X-linked" RELATED [GARD:0003017] -synonym: "intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement" RELATED [OMIM:300048] +synonym: "intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement" RELATED [] synonym: "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" EXACT [OMIM:300048] -synonym: "intestinal pseudoobstruction, neuronal, X-linked recessive" EXACT [OMIM:300048, OMIM:genemap2] -synonym: "Ipox" RELATED [OMIM:300048] +synonym: "intestinal pseudoobstruction, neuronal, X-linked recessive" EXACT [] +synonym: "Ipox" RELATED [] xref: DOID:0080681 {source="MONDO:equivalentTo"} xref: GARD:3017 {source="MONDO:GARD"} xref: MEDGEN:412536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -225878,18 +225914,18 @@ synonym: "bilateral periventricular nodular heterotopia" RELATED [GARD:0007371] synonym: "BPNH" RELATED ABBREVIATION [GARD:0007371] synonym: "heterotopia familial nodular" RELATED [GARD:0007371] synonym: "heterotopia periventricular X-linked dominant" RELATED [GARD:0007371] -synonym: "heterotopia, familial nodular" RELATED [OMIM:300049] -synonym: "heterotopia, periventricular nodular, with Frontometaphyseal dysplasia" RELATED [OMIM:300049] -synonym: "heterotopia, periventricular, 1, X-linked dominant" EXACT [OMIM:300049, OMIM:genemap2] +synonym: "heterotopia, familial nodular" RELATED [] +synonym: "heterotopia, periventricular nodular, with Frontometaphyseal dysplasia" RELATED [] +synonym: "heterotopia, periventricular, 1, X-linked dominant" EXACT [] synonym: "heterotopia, periventricular, Ehlers-Danlos variant" EXACT [OMIM:300049] synonym: "heterotopia, periventricular, X-linked dominant" EXACT CLINGEN_LABEL [OMIM:300049] synonym: "NHBP" RELATED ABBREVIATION [GARD:0007371] synonym: "nodular heterotopia bilateral periventricular" RELATED [GARD:0007371] -synonym: "nodular heterotopia, bilateral periventricular" RELATED [OMIM:300049] -synonym: "periventricular nodular heterotopia 1" RELATED [OMIM:300049] -synonym: "periventricular nodular heterotopia 4" RELATED [OMIM:300049] -synonym: "periventricular nodular heterotopia 4, formerly" RELATED [OMIM:300049] -synonym: "PVNH1" RELATED ABBREVIATION [GARD:0007371, OMIM:300049] +synonym: "nodular heterotopia, bilateral periventricular" RELATED [] +synonym: "periventricular nodular heterotopia 1" RELATED [] +synonym: "periventricular nodular heterotopia 4" RELATED [] +synonym: "periventricular nodular heterotopia 4, formerly" RELATED [] +synonym: "PVNH1" RELATED ABBREVIATION [GARD:0007371] synonym: "X-linked periventricular heterotopia" RELATED [GARD:0007371] xref: GARD:7371 {source="MONDO:GARD"} xref: ICD9:742.4 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -225906,7 +225942,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010234 name: obsolete body length, mouse, human homolog -synonym: "body length, mouse, HUMAN homolog" RELATED [OMIM:300054] +synonym: "body length, mouse, HUMAN homolog" RELATED [] xref: OMIM:300054 {source="MONDO:relatedTo"} is_obsolete: true @@ -225921,27 +225957,27 @@ subset: orphanet_rare {source="Orphanet:3077"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "intellectual deficit, X-linked - psychosis - macroorchidism" RELATED [GARD:0003506] -synonym: "intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive" EXACT [OMIM:300055, OMIM:genemap2] +synonym: "intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive" EXACT [] synonym: "intellectual disability psychosis macroorchidism" RELATED [GARD:0003506] -synonym: "intellectual disability with psychosis, pyramidal signs, and macroorchidism" EXACT [DOID:0060827] -synonym: "intellectual disability, X-linked 16" RELATED [OMIM:300055] -synonym: "intellectual disability, X-linked 79" RELATED [OMIM:300055] -synonym: "intellectual disability, X-linked, syndromic 13" EXACT [DOID:0060827, GARD:0003506, MONDO:Lexical, OMIM:300055] -synonym: "intellectual disability, X-linked, syndromic type 13" EXACT [MONDORULE:2, OMIM:300055] -synonym: "intellectual disability, X-linked, with spasticity" RELATED [OMIM:300055] +synonym: "intellectual disability with psychosis, pyramidal signs, and macroorchidism" EXACT [] +synonym: "intellectual disability, X-linked 16" RELATED [] +synonym: "intellectual disability, X-linked 79" RELATED [] +synonym: "intellectual disability, X-linked, syndromic 13" EXACT [GARD:0003506, MONDO:Lexical] +synonym: "intellectual disability, X-linked, syndromic type 13" EXACT [MONDORULE:2] +synonym: "intellectual disability, X-linked, with spasticity" RELATED [] synonym: "Lindsay-Burn syndrome" EXACT [DOID:0060827, Orphanet:3077] synonym: "mental retardation psychosis macroorchidism" RELATED DEPRECATED [GARD:0003506] -synonym: "mental retardation with psychosis, pyramidal signs, and macroorchidism" EXACT DEPRECATED [DOID:0060827] -synonym: "mental retardation, X-linked 16" RELATED DEPRECATED [OMIM:300055] -synonym: "mental retardation, X-linked 79" RELATED DEPRECATED [OMIM:300055] +synonym: "mental retardation with psychosis, pyramidal signs, and macroorchidism" EXACT DEPRECATED [DOID:0060827, OMIM:300055] +synonym: "mental retardation, X-linked 16" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 79" RELATED DEPRECATED [] synonym: "mental retardation, X-linked, syndromic 13" EXACT DEPRECATED [DOID:0060827, GARD:0003506, MONDO:Lexical, OMIM:300055] -synonym: "mental retardation, X-linked, syndromic type 13" EXACT DEPRECATED [MONDORULE:2, OMIM:300055] -synonym: "mental retardation, X-linked, with spasticity" RELATED DEPRECATED [OMIM:300055] +synonym: "mental retardation, X-linked, syndromic type 13" EXACT DEPRECATED [MONDORULE:2] +synonym: "mental retardation, X-linked, with spasticity" RELATED DEPRECATED [] synonym: "MRXS13" EXACT ABBREVIATION [DOID:0060827, GARD:0003506, MONDO:Lexical, OMIM:300055] -synonym: "PPM-X" EXACT [DOID:0060827, Orphanet:3077] +synonym: "PPM-X" EXACT ABBREVIATION [DOID:0060827, Orphanet:3077] synonym: "PPM-X syndrome" RELATED [GARD:0003506] -synonym: "X-linked intellectual disability 79" EXACT [DOID:0060827] -synonym: "X-linked intellectual disability with spasticity" EXACT [DOID:0060827] +synonym: "X-linked intellectual disability 79" EXACT [] +synonym: "X-linked intellectual disability with spasticity" EXACT [] synonym: "X-linked mental retardation 79" EXACT DEPRECATED [DOID:0060827] synonym: "X-linked mental retardation with spasticity" EXACT DEPRECATED [DOID:0060827] xref: DOID:0060827 {source="MONDO:equivalentTo"} @@ -225966,11 +226002,11 @@ name: intellectual disability, X-linked 14 subset: gard_rare {source="GARD:8557", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 14" EXACT [MONDO:Lexical, OMIM:300062] +synonym: "intellectual disability, X-linked 14" EXACT [MONDO:Lexical] synonym: "intellectual disability, X-linked nonspecific, type 14" RELATED [GARD:0008557] -synonym: "mental retardation, X-linked 14" RELATED DEPRECATED [MONDO:Lexical, OMIM:300062] +synonym: "mental retardation, X-linked 14" RELATED DEPRECATED [MONDO:Lexical] synonym: "mental retardation, X-linked nonspecific, type 14" RELATED DEPRECATED [GARD:0008557] -synonym: "MRX14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300062] +synonym: "MRX14" EXACT ABBREVIATION [DOID:0112027, MONDO:Lexical] xref: DOID:0112027 {source="MONDO:equivalentTo"} xref: GARD:8557 {source="MONDO:GARD"} xref: MEDGEN:163231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -225994,12 +226030,12 @@ synonym: "Hyde Forster McCarthy Berry syndrome" RELATED [GARD:0002765] synonym: "Hyde Forster-McCarthy-Berry syndrome" EXACT [Orphanet:2898] synonym: "intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features" RELATED [GARD:0004377] synonym: "intellectual disability, X-linked Hyde-Forster type" RELATED [GARD:0004377] -synonym: "intellectual disability, X-linked, Hyde-Forster type" RELATED [OMIM:300064] -synonym: "intellectual disability, X-linked, with craniofacial dysmorphism" RELATED [OMIM:300064] +synonym: "intellectual disability, X-linked, Hyde-Forster type" RELATED [] +synonym: "intellectual disability, X-linked, with craniofacial dysmorphism" RELATED [] synonym: "mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features" RELATED DEPRECATED [GARD:0004377] synonym: "mental retardation, X-linked Hyde-Forster type" RELATED DEPRECATED [GARD:0004377] -synonym: "mental retardation, X-linked, Hyde-Forster type" RELATED DEPRECATED [OMIM:300064] -synonym: "mental retardation, X-linked, with craniofacial dysmorphism" RELATED DEPRECATED [OMIM:300064] +synonym: "mental retardation, X-linked, Hyde-Forster type" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, with craniofacial dysmorphism" RELATED DEPRECATED [] synonym: "plagiocephaly and X-linked intellectual disability" RELATED [GARD:0004377] synonym: "plagiocephaly and X-linked mental retardation" RELATED DEPRECATED [GARD:0004377] xref: GARD:2765 {source="MONDO:GARD"} @@ -226023,12 +226059,12 @@ def: "Any X-linked nonsyndromic deafness in which the cause of the disease is a subset: gard_rare {source="GARD:18096", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, nonsyndromic sensorineural progressive 6" NARROW [OMIM:300066] -synonym: "deafness, X-linked 4" NARROW [MONDO:Lexical, OMIM:300066] -synonym: "deafness, X-linked 4, X-linked dominant" NARROW [OMIM:300066, OMIM:genemap2] -synonym: "deafness, X-linked 6, progressive" RELATED [OMIM:300066] -synonym: "deafness, X-linked type 4" NARROW [MONDORULE:1, OMIM:300066] -synonym: "DFNX4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300066] +synonym: "deafness, nonsyndromic sensorineural progressive 6" NARROW [] +synonym: "deafness, X-linked 4" NARROW [MONDO:Lexical] +synonym: "deafness, X-linked 4, X-linked dominant" NARROW [] +synonym: "deafness, X-linked 6, progressive" RELATED [] +synonym: "deafness, X-linked type 4" NARROW [MONDORULE:1] +synonym: "DFNX4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SMPX X-linked nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "X-linked nonsyndromic deafness caused by mutation in SMPX" NARROW [MONDO:design_pattern] xref: DOID:0111735 {source="MONDO:equivalentTo"} @@ -226055,24 +226091,24 @@ subset: ordo_disorder {source="Orphanet:2148"} subset: orphanet_rare {source="Orphanet:2148"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Dc syndrome" RELATED [OMIM:300067] -synonym: "Double cortex syndrome" RELATED [OMIM:300067] -synonym: "lissencephaly and agenesis of corpus callosum" RELATED [GARD:0006914, OMIM:300067] -synonym: "lissencephaly type 1 due to doublecortin gene mutation" EXACT CLINGEN_LABEL [] +synonym: "Dc syndrome" RELATED [] +synonym: "Double cortex syndrome" RELATED [] +synonym: "lissencephaly and agenesis of corpus callosum" RELATED [GARD:0006914] +synonym: "lissencephaly type 1 due to doublecortin gene mutation" EXACT CLINGEN_LABEL [DOID:0112239, icd11.foundation:891064255, Orphanet:2148] synonym: "lissencephaly X-linked" RELATED [GARD:0006914] -synonym: "lissencephaly, X-linked" EXACT [OMIM:300067, OMIM:genemap2] -synonym: "lissencephaly, X-linked, 1" RELATED [MONDO:Lexical, OMIM:300067] -synonym: "lissencephaly, X-linked, type 1" EXACT [MONDORULE:1, OMIM:300067] +synonym: "lissencephaly, X-linked" EXACT [] +synonym: "lissencephaly, X-linked, 1" RELATED [MONDO:Lexical] +synonym: "lissencephaly, X-linked, type 1" EXACT [MONDORULE:1] synonym: "LISX" RELATED ABBREVIATION [GARD:0006914] -synonym: "LISX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300067] -synonym: "subcortical band heterotopia, X-linked" RELATED [OMIM:300067] -synonym: "subcortical laminal heterotopia, X-linked" EXACT [OMIM:300067, OMIM:genemap2] -synonym: "subcortical laminar heterotopia, X-linked" RELATED [OMIM:300067] +synonym: "LISX1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "subcortical band heterotopia, X-linked" RELATED [] +synonym: "subcortical laminal heterotopia, X-linked" EXACT [] +synonym: "subcortical laminar heterotopia, X-linked" RELATED [] synonym: "subcortical laminar heterotopia, X-linked," RELATED [GARD:0006914] synonym: "X-linked lissencephaly" RELATED [GARD:0006914] synonym: "X-linked lissencephaly type 1" EXACT [Orphanet:2148] synonym: "XLIS" RELATED ABBREVIATION [GARD:0006914] -synonym: "Xlis" RELATED [OMIM:300067] +synonym: "Xlis" RELATED [] xref: DOID:0112239 {source="MONDO:equivalentTo"} xref: GARD:6914 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:2148/attributed", source="Orphanet:2148/ntbt", source="Orphanet:2148"} @@ -226106,12 +226142,12 @@ subset: rare synonym: "CACNA1F congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "congenital stationary night blindness 2A X-linked" EXACT [DOID:0110871] synonym: "congenital stationary night blindness caused by mutation in CACNA1F" EXACT [MONDO:design_pattern] -synonym: "congenital stationary night blindness type 2A" EXACT [DOID:0110871, MONDORULE:4] +synonym: "congenital stationary night blindness type 2A" EXACT [MONDORULE:4] synonym: "CSNB, incomplete, X-linked" EXACT [OMIM:300071] -synonym: "CSNB2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300071] -synonym: "night blindness, congenital stationary (incomplete), 2A, X-linked" EXACT [OMIM:300071, OMIM:genemap2] -synonym: "night blindness, congenital stationary, type 2" RELATED [OMIM:300071] -synonym: "night blindness, congenital stationary, type 2A" RELATED [MONDO:Lexical, OMIM:300071] +synonym: "CSNB2A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "night blindness, congenital stationary (incomplete), 2A, X-linked" EXACT [] +synonym: "night blindness, congenital stationary, type 2" RELATED [] +synonym: "night blindness, congenital stationary, type 2A" RELATED [MONDO:Lexical] xref: DOID:0110871 {source="MONDO:equivalentTo"} xref: GARD:15251 {source="MONDO:GARD"} xref: MEDGEN:376299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -226164,7 +226200,7 @@ synonym: "immunoneurologic disorder, X-linked" EXACT [OMIM:300076] synonym: "neonatal death immune deficiency" EXACT [GARD:0000274] synonym: "Woods Black Norbury syndrome" EXACT [GARD:0000274] synonym: "Woods-Black-Norbury syndrome" EXACT [OMIM:300076, Orphanet:2571] -synonym: "Woods-Black-Norbury syndrome, X-linked dominant" EXACT [OMIM:300076, OMIM:genemap2] +synonym: "Woods-Black-Norbury syndrome, X-linked dominant" EXACT [] synonym: "X-linked immunoneurological disorder" EXACT [GARD:0000274] xref: GARD:274 {source="MONDO:GARD"} xref: ICD10CM:D82.8 {source="Orphanet:2571/attributed", source="Orphanet:2571/ntbt", source="Orphanet:2571"} @@ -226187,7 +226223,7 @@ id: MONDO:0010244 name: CGF1 synonym: "CGF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300082] synonym: "cognitive function 1, social" EXACT [MONDO:Lexical, OMIM:300082] -synonym: "social cognition" EXACT [OMIM:300082, OMIM:genemap2] +synonym: "social cognition" EXACT [OMIM:300082] xref: MEDGEN:338395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300082 {source="MONDO:equivalentTo"} xref: UMLS:C1848140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338395"} @@ -226200,15 +226236,15 @@ name: X-linked cone-rod dystrophy 2 subset: gard_rare {source="GARD:1462", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "COD2" EXACT ABBREVIATION [DOID:0111006, OMIM:300085] +synonym: "COD2" EXACT ABBREVIATION [DOID:0111006] synonym: "cone dystrophy 2, X-linked" EXACT [OMIM:300085] synonym: "cone dystrophy X-linked 2" EXACT [GARD:0001462] -synonym: "cone dystrophy, progressive X-linked, 2" EXACT [OMIM:300085, OMIM:genemap2] +synonym: "cone dystrophy, progressive X-linked, 2" EXACT [] synonym: "cone-rod dystrophy X-linked 2" EXACT [GARD:0001462] synonym: "cone-rod dystrophy, X-linked, 2" EXACT [MONDO:Lexical, OMIM:300085] synonym: "CORDX2" EXACT ABBREVIATION [DOID:0111006, MONDO:Lexical, OMIM:300085] synonym: "X-linked cone dystrophy 2" EXACT [DOID:0111006] -synonym: "X-linked cone-rod dystrophy type 2" EXACT [DOID:0111006, MONDORULE:1] +synonym: "X-linked cone-rod dystrophy type 2" EXACT [MONDORULE:1] xref: DOID:0111006 {source="MONDO:equivalentTo"} xref: GARD:1462 {source="MONDO:GARD"} xref: MEDGEN:341161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -226231,27 +226267,27 @@ subset: ordo_disorder {source="Orphanet:101039"} subset: orphanet_rare {source="Orphanet:101039"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE9" EXACT ABBREVIATION [OMIM:300088] -synonym: "developmental and epileptic encephalopathy 9" EXACT [OMIM:300088, OMIM:genemap2] +synonym: "DEE9" EXACT ABBREVIATION [DOID:0060848, OMIM:300088] +synonym: "developmental and epileptic encephalopathy 9" EXACT [DOID:0060848, OMIM:300088] synonym: "developmental and epileptic encephalopathy, 9" EXACT CLINGEN_LABEL [] -synonym: "early infantile epileptic encephalopathy 9" EXACT [OMIM:300088] +synonym: "early infantile epileptic encephalopathy 9" EXACT [DOID:0060848] synonym: "early infantile epileptic encephalopathy caused by mutation in PCDH19" EXACT [MONDO:design_pattern] -synonym: "early infantile epileptic encephalopathy type 9" EXACT [DOID:0060848, MONDORULE:1] +synonym: "early infantile epileptic encephalopathy type 9" EXACT [MONDORULE:1] synonym: "early infantile female-limited epilecptic encephalopathy" EXACT [DOID:0060848] synonym: "EFMR" EXACT ABBREVIATION [DOID:0060848, Orphanet:101039] -synonym: "EIEE9" EXACT ABBREVIATION [DOID:0060848, MONDO:Lexical, OMIM:300088] +synonym: "EIEE9" EXACT ABBREVIATION [DOID:0060848, MONDO:Lexical] synonym: "epilepsy and intellectual disability limited to females" RELATED [GARD:0010806] synonym: "epilepsy and mental retardation limited to females" RELATED DEPRECATED [GARD:0010806] synonym: "epilepsy, female restricted, with intellectual disability" RELATED [GARD:0010806] synonym: "epilepsy, female restricted, with mental retardation" RELATED DEPRECATED [GARD:0010806] -synonym: "epilepsy, female-restricted, with intellectual disability" RELATED [OMIM:300088] -synonym: "epilepsy, female-restricted, with mental retardation" RELATED DEPRECATED [OMIM:300088] +synonym: "epilepsy, female-restricted, with intellectual disability" RELATED [] +synonym: "epilepsy, female-restricted, with mental retardation" RELATED DEPRECATED [] synonym: "epileptic encephalopathy, early infantile, 9" EXACT [MONDO:Lexical, OMIM:300088] -synonym: "epileptic encephalopathy, early infantile, type 9" EXACT [MONDORULE:1, OMIM:300088] -synonym: "familial epilepsy and intellectual disability limited to females" EXACT [Orphanet:101039] -synonym: "familial epilepsy and mental retardation limited to females" EXACT DEPRECATED [Orphanet:101039] +synonym: "epileptic encephalopathy, early infantile, type 9" EXACT [MONDORULE:1] +synonym: "familial epilepsy and intellectual disability limited to females" EXACT [] +synonym: "familial epilepsy and mental retardation limited to females" EXACT DEPRECATED [] synonym: "female restricted epilepsy with intellectual deficit" RELATED [GARD:0010806] -synonym: "female restricted epilepsy with intellectual disability" EXACT [DOID:0060848, Orphanet:101039] +synonym: "female restricted epilepsy with intellectual disability" EXACT [Orphanet:101039] synonym: "female restricted epilepsy with mental retardation" EXACT DEPRECATED [DOID:0060848] synonym: "Juberg Hellman syndrome" EXACT [DOID:0060848] synonym: "Juberg-Hellman syndrome" EXACT [OMIM:300088, Orphanet:101039] @@ -226283,19 +226319,19 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:139396"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Addison disease and cerebral sclerosis" RELATED [OMIM:300100] -synonym: "adrenoleukodystrophy" RELATED [MONDO:Lexical, OMIM:300100] +synonym: "Addison disease and cerebral sclerosis" RELATED [] +synonym: "adrenoleukodystrophy" RELATED [MONDO:Lexical] synonym: "adrenoleukodystrophy childhood cerebral form" RELATED [GARD:0009412] synonym: "adrenoleukodystrophy X-linked cerebral form" RELATED [GARD:0009412] -synonym: "adrenomyeloneuropathy" RELATED [OMIM:300100] -synonym: "ALD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300100] +synonym: "adrenomyeloneuropathy" RELATED [] +synonym: "ALD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ALD childhood cerebral form" RELATED [GARD:0009412] -synonym: "bronze Schilder disease" RELATED [OMIM:300100] +synonym: "bronze Schilder disease" RELATED [] synonym: "childhood cerebral ALD" RELATED [GARD:0009412] synonym: "childhood-onset cerebral X-linked adrenoleukodystrophy" RELATED [GARD:0009412] -synonym: "melanodermic leukodystrophy" RELATED [OMIM:300100] -synonym: "Siemerling-Creutzfeldt disease" RELATED [OMIM:300100] -synonym: "X-linked cerebral adrenoleukodystrophy" EXACT CLINGEN_LABEL [Orphanet:139396] +synonym: "melanodermic leukodystrophy" RELATED [] +synonym: "Siemerling-Creutzfeldt disease" RELATED [] +synonym: "X-linked cerebral adrenoleukodystrophy" EXACT CLINGEN_LABEL [icd11.foundation:1105019687, Orphanet:139396] xref: GARD:9412 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:139396", source="Orphanet:139396/attributed", source="Orphanet:139396/ntbt"} xref: icd11.foundation:1105019687 {source="MONDO:equivalentTo"} @@ -226322,12 +226358,12 @@ subset: orphanet_rare {source="Orphanet:93349"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SEMD X-linked" RELATED [GARD:0004979] -synonym: "SEMD, X-linked" RELATED [OMIM:300106] -synonym: "SEMDX" RELATED ABBREVIATION [GARD:0004979, OMIM:300106] +synonym: "SEMD, X-linked" RELATED [] +synonym: "SEMDX" RELATED ABBREVIATION [GARD:0004979] synonym: "spondylo-epimetaphyseal dysplasia" RELATED [GARD:0004979] synonym: "spondyloepimetaphyseal dysplasia X-linked" RELATED [GARD:0004979] synonym: "spondyloepimetaphyseal dysplasia, X-linked" EXACT [MONDO:patterns/x_linked, OMIM:300106] -synonym: "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive" EXACT [OMIM:300106, OMIM:genemap2] +synonym: "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive" EXACT [] xref: DOID:0112150 {source="MONDO:equivalentTo"} xref: GARD:4979 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93349/attributed", source="Orphanet:93349/ntbt", source="Orphanet:93349"} @@ -226356,13 +226392,13 @@ subset: ordo_disorder {source="Orphanet:485350"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:485350"} subset: rare -synonym: "CLCN4-related X-linked intellectual disability syndrome" EXACT [MONDO:0044618] -synonym: "intellectual disability, X-linked 15" EXACT [OMIM:300114] -synonym: "intellectual disability, X-linked 49" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300114] +synonym: "CLCN4-related X-linked intellectual disability syndrome" EXACT [MONDO:0044618, Orphanet:485350] +synonym: "intellectual disability, X-linked 15" EXACT [] +synonym: "intellectual disability, X-linked 49" EXACT CLINGEN_LABEL [MONDO:Lexical] synonym: "mental retardation, X-linked 15" EXACT DEPRECATED [OMIM:300114] -synonym: "mental retardation, X-linked 49" RELATED DEPRECATED [MONDO:Lexical, OMIM:300114] -synonym: "MRX49" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300114] -synonym: "Raynaud-Claes syndrome, X-linked dominant" EXACT [OMIM:300114, OMIM:genemap2] +synonym: "mental retardation, X-linked 49" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRX49" EXACT ABBREVIATION [DOID:0112060, MONDO:Lexical] +synonym: "Raynaud-Claes syndrome, X-linked dominant" EXACT [] xref: DOID:0112060 {source="MONDO:equivalentTo"} xref: GARD:17880 {source="MONDO:GARD"} xref: MEDGEN:923000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -226381,10 +226417,10 @@ name: intellectual disability, X-linked 50 subset: gard_rare {source="GARD:22668", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 50" EXACT [OMIM:300115, OMIM:genemap2] -synonym: "intellectual disability, X-linked 50" EXACT [MONDO:Lexical, OMIM:300115] -synonym: "mental retardation, X-linked 50" RELATED DEPRECATED [MONDO:Lexical, OMIM:300115] -synonym: "MRX50" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300115] +synonym: "intellectual developmental disorder, X-linked 50" EXACT [OMIM:300115] +synonym: "intellectual disability, X-linked 50" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 50" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRX50" EXACT ABBREVIATION [DOID:0112029, MONDO:Lexical] xref: DOID:0112029 {source="MONDO:equivalentTo"} xref: GARD:22668 {source="MONDO:GARD"} xref: MEDGEN:376278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -226402,11 +226438,11 @@ name: intellectual disability, X-linked, with panhypopituitarism subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked, with isolated growth hormone deficiency" EXACT [OMIM:300123, OMIM:genemap2] -synonym: "intellectual disability, X-linked, with isolated Growth hormone deficiency" RELATED [OMIM:300123] -synonym: "intellectual disability, X-linked, with panhypopituitarism" EXACT [OMIM:300123] -synonym: "mental retardation, X-linked, with isolated Growth hormone deficiency" RELATED DEPRECATED [OMIM:300123] -synonym: "mental retardation, X-linked, with panhypopituitarism" RELATED DEPRECATED [OMIM:300123] +synonym: "intellectual developmental disorder, X-linked, with isolated growth hormone deficiency" EXACT [] +synonym: "intellectual disability, X-linked, with isolated Growth hormone deficiency" RELATED [] +synonym: "intellectual disability, X-linked, with panhypopituitarism" EXACT [] +synonym: "mental retardation, X-linked, with isolated Growth hormone deficiency" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, with panhypopituitarism" RELATED DEPRECATED [] xref: MEDGEN:394771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300123 {source="MONDO:equivalentTo"} xref: Orphanet:231692 {source="OMIM:300123"} @@ -226424,11 +226460,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010253 name: migraine, familial typical, susceptibility to, 2 subset: predisposition -synonym: "Mfts" RELATED [OMIM:300125] -synonym: "Mgr2" RELATED [OMIM:300125] -synonym: "migraine with or without aura, susceptibility to, 2" RELATED [OMIM:300125] -synonym: "migraine, familial typical, susceptibility to, 2" EXACT [OMIM:300125] -synonym: "migraine, familial typical, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:300125] +synonym: "Mfts" RELATED [] +synonym: "Mgr2" RELATED [] +synonym: "migraine with or without aura, susceptibility to, 2" RELATED [] +synonym: "migraine, familial typical, susceptibility to, 2" EXACT [] +synonym: "migraine, familial typical, susceptibility to, type 2" EXACT [MONDORULE:1] xref: MEDGEN:341144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300125 {source="MONDO:equivalentTo"} xref: UMLS:C1848066 {source="MONDO:equivalentTo", source="MEDGEN:341144", source="MONDO:MEDGEN"} @@ -226438,7 +226474,7 @@ relationship: excluded_subClassOf MONDO:0021146 {source="MONDO:indirect", source [Term] id: MONDO:0010254 name: obsolete hematopoietic stem cell kinetics, control of -synonym: "hematopoietic stem cell kinetics, control of" EXACT [OMIM:300129] +synonym: "hematopoietic stem cell kinetics, control of" EXACT [] xref: OMIM:300129 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -226446,10 +226482,10 @@ is_obsolete: true id: MONDO:0010255 name: diabetes mellitus, insulin-dependent, X-linked, susceptibility to subset: predisposition -synonym: "diabetes mellitus, insulin-dependent, X-linked" EXACT [OMIM:300136, OMIM:genemap2] +synonym: "diabetes mellitus, insulin-dependent, X-linked" EXACT [] synonym: "diabetes mellitus, insulin-dependent, X-linked, susceptibility to" EXACT [OMIM:300136] -synonym: "Iddmx" RELATED [OMIM:300136] -synonym: "insulin-dependent diabetes mellitus, X-linked, susceptibility to" RELATED [OMIM:300136] +synonym: "Iddmx" RELATED [] +synonym: "insulin-dependent diabetes mellitus, X-linked, susceptibility to" RELATED [] xref: MEDGEN:338376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300136 {source="MONDO:equivalentTo"} xref: UMLS:C1848042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338376"} @@ -226466,14 +226502,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "IL1RAPL1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, X-linked 21, X-linked recessive" EXACT [OMIM:300143, OMIM:genemap2] -synonym: "intellectual disability, X-linked 21" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300143] -synonym: "intellectual disability, X-linked 34" RELATED [OMIM:300143] -synonym: "intellectual disability, X-linked type 21" EXACT [MONDORULE:2, OMIM:300143] -synonym: "mental retardation, X-linked 21" RELATED DEPRECATED [MONDO:Lexical, OMIM:300143] -synonym: "mental retardation, X-linked 34" RELATED DEPRECATED [OMIM:300143] -synonym: "mental retardation, X-linked type 21" EXACT DEPRECATED [MONDORULE:2, OMIM:300143] -synonym: "MRX21" RELATED DEPRECATED [MONDO:Lexical, OMIM:300143] +synonym: "intellectual developmental disorder, X-linked 21, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 21" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked 34" RELATED [] +synonym: "intellectual disability, X-linked type 21" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 21" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 34" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked type 21" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX21" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1" EXACT [MONDO:design_pattern] xref: DOID:0112022 {source="MONDO:equivalentTo"} xref: GARD:22669 {source="MONDO:GARD"} @@ -226492,7 +226528,7 @@ name: prostate cancer, hereditary, X-linked 1 subset: gard_rare {source="GARD:15253", source="MONDO:GARD"} subset: rare synonym: "HPCX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300147] -synonym: "prostate cancer susceptibility, X-linked" RELATED [OMIM:300147] +synonym: "prostate cancer susceptibility, X-linked" RELATED [] synonym: "prostate cancer, hereditary, X-linked 1" EXACT [MONDO:Lexical, OMIM:300147] xref: GARD:15253 {source="MONDO:GARD"} xref: MEDGEN:339479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -226513,23 +226549,23 @@ subset: ordo_malformation_syndrome {source="Orphanet:85282"} subset: orphanet_rare {source="Orphanet:85282"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT [DOID:0060801, GARD:0009178, MONDO:Lexical, OMIM:300148] -synonym: "intellectual disability, X-linked, syndromic 20" EXACT [OMIM:300148] -synonym: "intellectual disability, X-linked, syndromic 25" EXACT [OMIM:300148] -synonym: "intellectual disability, X-linked, syndromic, Borck type" EXACT [OMIM:300987] +synonym: "intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT [GARD:0009178, MONDO:Lexical] +synonym: "intellectual disability, X-linked, syndromic 20" EXACT [] +synonym: "intellectual disability, X-linked, syndromic 25" EXACT [] +synonym: "intellectual disability, X-linked, syndromic, Borck type" EXACT [] synonym: "intellectual disability, X-linked, syndromic, Borck type; MRXSBRK" EXACT [] synonym: "MEHMO" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300148] -synonym: "MEHMO syndrome" EXACT [OMIM:300148] -synonym: "MEHMO syndrome, X-linked recessive" EXACT [OMIM:300148, OMIM:genemap2] +synonym: "MEHMO syndrome" EXACT [DOID:0060801, icd11.foundation:500681653, OMIM:300148, Orphanet:85282] +synonym: "MEHMO syndrome, X-linked recessive" EXACT [] synonym: "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT DEPRECATED [DOID:0060801, MONDO:Lexical, OMIM:300148] -synonym: "mental retardation, X-linked, syndromic 20" RELATED DEPRECATED [OMIM:300148] -synonym: "mental retardation, X-linked, syndromic 25" RELATED DEPRECATED [OMIM:300148] -synonym: "mental retardation, X-linked, syndromic, Borck type" EXACT DEPRECATED [OMIM:300987] +synonym: "mental retardation, X-linked, syndromic 20" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic 25" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic, Borck type" EXACT DEPRECATED [OMIM:300148] synonym: "MRXS20" EXACT ABBREVIATION [DOID:0060801] synonym: "MRXS25" EXACT ABBREVIATION [DOID:0060801] -synonym: "MRXSBRK" EXACT ABBREVIATION [OMIM:300987] -synonym: "syndromic X-linked intellectual disability 20" EXACT [DOID:0060801] -synonym: "syndromic X-linked intellectual disability 25" EXACT [DOID:0060801] +synonym: "MRXSBRK" EXACT ABBREVIATION [] +synonym: "syndromic X-linked intellectual disability 20" EXACT [] +synonym: "syndromic X-linked intellectual disability 25" EXACT [] synonym: "syndromic X-linked mental retardation 20" EXACT DEPRECATED [DOID:0060801] synonym: "syndromic X-linked mental retardation 25" EXACT DEPRECATED [DOID:0060801] synonym: "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" EXACT [DOID:0060801, Orphanet:85282] @@ -226563,8 +226599,8 @@ def: "A retinitis pigmentosa that has material basis in variation in the chromos subset: gard_rare {source="GARD:10389", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 24" EXACT [MONDO:Lexical, OMIM:300155] -synonym: "retinitis pigmentosa type 24" EXACT [DOID:0110416, MONDORULE:2] +synonym: "retinitis pigmentosa 24" EXACT [DOID:0110416, MONDO:Lexical, OMIM:300155] +synonym: "retinitis pigmentosa type 24" EXACT [MONDORULE:2] synonym: "RP 24" RELATED [GARD:0010389] synonym: "RP24" EXACT ABBREVIATION [DOID:0110416, MONDO:Lexical, OMIM:300155] xref: DOID:0110416 {source="MONDO:equivalentTo"} @@ -226580,9 +226616,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10389/retini id: MONDO:0010260 name: arthrogryposis, congenital, lower limb, X-linked synonym: "ACLLX" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300158] -synonym: "arthrogryposis, congenital, LOWER limb, X-linked" RELATED [MONDO:Lexical, OMIM:300158] -synonym: "arthrogryposis, X-linked, type V" RELATED [OMIM:300158] -synonym: "arthrogryposis, X-linked, type V, formerly" RELATED [OMIM:300158] +synonym: "arthrogryposis, congenital, LOWER limb, X-linked" RELATED [MONDO:Lexical] +synonym: "arthrogryposis, X-linked, type V" RELATED [] +synonym: "arthrogryposis, X-linked, type V, formerly" RELATED [] xref: MEDGEN:339477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564574 {source="MONDO:equivalentTo"} xref: OMIM:300158 {source="MONDO:equivalentTo"} @@ -226602,18 +226638,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:2712"} subset: orphanet_rare {source="Orphanet:2712"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ANOP2 (formerly)" RELATED [GARD:0004628, OMIM:300166] -synonym: "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome" EXACT [Orphanet:2712] -synonym: "MAA2 (formerly)" RELATED [GARD:0004628, OMIM:300166] -synonym: "MCOPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300166] +synonym: "ANOP2 (formerly)" RELATED [GARD:0004628] +synonym: "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome" EXACT [DOID:0111809, Orphanet:2712] +synonym: "MAA2 (formerly)" RELATED [GARD:0004628] +synonym: "MCOPS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microphthalmia cataracts radiculomegaly and septal heart defects" RELATED [GARD:0004628] synonym: "microphthalmia syndromic 2" EXACT [GARD:0004628] -synonym: "microphthalmia, cataracts, radiculomegaly, and septal heart defects" RELATED [OMIM:300166] +synonym: "microphthalmia, cataracts, radiculomegaly, and septal heart defects" RELATED [] synonym: "microphthalmia, syndromic 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300166] -synonym: "microphthalmia, syndromic 2, X-linked dominant" EXACT [OMIM:300166, OMIM:genemap2] -synonym: "microphthalmia, syndromic type 2" EXACT [MONDORULE:1, OMIM:300166] -synonym: "oculofaciocardiodental syndrome" EXACT [OMIM:300166] -synonym: "OFCD syndrome" EXACT [OMIM:300166, Orphanet:2712] +synonym: "microphthalmia, syndromic 2, X-linked dominant" EXACT [] +synonym: "microphthalmia, syndromic type 2" EXACT [MONDORULE:1] +synonym: "oculofaciocardiodental syndrome" EXACT [DOID:0111809, OMIM:300166, Orphanet:2712] +synonym: "OFCD syndrome" EXACT [DOID:0111809, OMIM:300166, Orphanet:2712] synonym: "syndromic microphthalmia type 2" RELATED [GARD:0004628] xref: DOID:0111809 {source="MONDO:equivalentTo"} xref: GARD:4628 {source="MONDO:GARD"} @@ -226659,13 +226695,13 @@ subset: ordo_disorder {source="Orphanet:86818"} subset: orphanet_rare {source="Orphanet:86818"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis" RELATED [OMIM:300194] -synonym: "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" RELATED DEPRECATED [OMIM:300194] -synonym: "AMME complex" EXACT [OMIM:300194, Orphanet:86818] -synonym: "AMME syndrome" EXACT [Orphanet:86818] -synonym: "ATS-MR" EXACT [Orphanet:86818] -synonym: "Ats-Mr" RELATED [OMIM:300194] -synonym: "chromosome Xq22.3 telomeric deletion syndrome" RELATED [OMIM:300194] +synonym: "Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis" RELATED [] +synonym: "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" RELATED DEPRECATED [] +synonym: "AMME complex" EXACT [DOID:0111860, OMIM:300194, Orphanet:86818] +synonym: "AMME syndrome" EXACT [DOID:0111860, Orphanet:86818] +synonym: "ATS-MR" EXACT ABBREVIATION [DOID:0111860, OMIM:300194, Orphanet:86818] +synonym: "Ats-Mr" RELATED [] +synonym: "chromosome Xq22.3 telomeric deletion syndrome" RELATED [] xref: DOID:0111860 {source="MONDO:equivalentTo"} xref: GARD:16761 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:86818/attributed", source="Orphanet:86818/ntbt", source="Orphanet:86818"} @@ -226691,21 +226727,21 @@ subset: ordo_disorder {source="Orphanet:95702"} subset: orphanet_rare {source="Orphanet:95702"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Addison disease, X-linked" RELATED [OMIM:300200] -synonym: "adrenal hypoplasia congenita" BROAD [NCIT:C123725] -synonym: "adrenal hypoplasia, congenital" RELATED [MONDO:Lexical, OMIM:300200] -synonym: "adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism" RELATED [OMIM:300200] -synonym: "adrenal hypoplasia, congenital, with precocious puberty" RELATED [OMIM:300200] -synonym: "adrenal hypoplasia, congenital, X-linked recessive" EXACT [OMIM:300200, OMIM:genemap2] -synonym: "adrenal insufficiency, progressive, and hypogonadotropic hypogonadism" RELATED [OMIM:300200] -synonym: "AHC" BROAD ABBREVIATION [MONDO:Lexical, OMIM:300200] -synonym: "AHC with HHG" RELATED [OMIM:300200] -synonym: "AHC with isolated gonadotropin deficiency" RELATED [OMIM:300200] +synonym: "Addison disease, X-linked" RELATED [] +synonym: "adrenal hypoplasia congenita" BROAD [] +synonym: "adrenal hypoplasia, congenital" RELATED [MONDO:Lexical] +synonym: "adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism" RELATED [] +synonym: "adrenal hypoplasia, congenital, with precocious puberty" RELATED [] +synonym: "adrenal hypoplasia, congenital, X-linked recessive" EXACT [] +synonym: "adrenal insufficiency, progressive, and hypogonadotropic hypogonadism" RELATED [] +synonym: "AHC" BROAD ABBREVIATION [MONDO:Lexical] +synonym: "AHC with HHG" RELATED [] +synonym: "AHC with isolated gonadotropin deficiency" RELATED [] synonym: "congenital adrenal hypoplasia" EXACT [DOID:0080156] -synonym: "cytomegalic adrenocortical hypoplasia" RELATED [OMIM:300200] -synonym: "cytomegalic congenital adrenal hypoplasia" RELATED [Orphanet:95702] -synonym: "mineralocorticoid deficiency, isolated" RELATED [OMIM:300200] -synonym: "X-linked adrenal hypoplasia congenita" EXACT CLINGEN_LABEL [] +synonym: "cytomegalic adrenocortical hypoplasia" RELATED [] +synonym: "cytomegalic congenital adrenal hypoplasia" RELATED [] +synonym: "mineralocorticoid deficiency, isolated" RELATED [] +synonym: "X-linked adrenal hypoplasia congenita" EXACT CLINGEN_LABEL [DOID:0080156, NCIT:C123725, Orphanet:95702] synonym: "X-linked AHC" RELATED [GARD:0000555] synonym: "X-linked congenital adrenal hypoplasia" EXACT [Orphanet:95702] xref: DOID:0080156 {source="MONDO:equivalentTo"} @@ -226739,13 +226775,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:79022"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lethal variant of Simpson-Golabi-Behmel syndrome" EXACT [Orphanet:79022] +synonym: "lethal variant of Simpson-Golabi-Behmel syndrome" EXACT [] synonym: "OFD1 Simpson-Golabi-Behmel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SGBS2" EXACT ABBREVIATION [Orphanet:79022] -synonym: "Sgbs2" RELATED [OMIM:300209] +synonym: "SGBS2" EXACT ABBREVIATION [OMIM:300209] +synonym: "Sgbs2" RELATED [] synonym: "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1" EXACT [MONDO:design_pattern] -synonym: "Simpson-Golabi-Behmel syndrome, type 2" RELATED [OMIM:300209] -synonym: "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive" EXACT [OMIM:300209, OMIM:genemap2] +synonym: "Simpson-Golabi-Behmel syndrome, type 2" RELATED [] +synonym: "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive" EXACT [] xref: DOID:0080342 {source="MONDO:equivalentTo"} xref: ICD10CM:Q87.3 {source="Orphanet:79022/attributed", source="Orphanet:79022/ntbt", source="Orphanet:79022"} xref: MEDGEN:337527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -226767,12 +226803,12 @@ subset: gard_rare {source="GARD:22670", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked 58, X-linked recessive" EXACT [OMIM:300210, OMIM:genemap2] -synonym: "intellectual disability, X-linked 58" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300210] -synonym: "intellectual disability, X-linked type 58" EXACT [MONDORULE:2, OMIM:300210] -synonym: "mental retardation, X-linked 58" RELATED DEPRECATED [MONDO:Lexical, OMIM:300210] -synonym: "mental retardation, X-linked type 58" EXACT DEPRECATED [MONDORULE:2, OMIM:300210] -synonym: "MRX58" RELATED DEPRECATED [MONDO:Lexical, OMIM:300210] +synonym: "intellectual developmental disorder, X-linked 58, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 58" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 58" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 58" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 58" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX58" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in TSPAN7" EXACT [MONDO:design_pattern] synonym: "TSPAN7 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112024 {source="MONDO:equivalentTo"} @@ -226809,21 +226845,21 @@ subset: ordo_malformation_syndrome {source="Orphanet:452"} subset: orphanet_rare {source="Orphanet:452"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hydranencephaly and abnormal genitalia" RELATED [OMIM:300215] +synonym: "hydranencephaly and abnormal genitalia" RELATED [] synonym: "hydranencephaly with abnormal genitalia" RELATED [GARD:0012491] synonym: "lissencephaly, X-linked 2" RELATED [GARD:0012491] -synonym: "lissencephaly, X-linked, 2" RELATED [MONDO:Lexical, OMIM:300215] -synonym: "lissencephaly, X-linked, type 2" EXACT [MONDORULE:1, OMIM:300215] -synonym: "lissencephaly, X-linked, with ambiguous genitalia" RELATED [OMIM:300215] -synonym: "LISX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300215] +synonym: "lissencephaly, X-linked, 2" RELATED [MONDO:Lexical] +synonym: "lissencephaly, X-linked, type 2" EXACT [MONDORULE:1] +synonym: "lissencephaly, X-linked, with ambiguous genitalia" RELATED [] +synonym: "LISX2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies" RELATED [GARD:0012491] -synonym: "X-linked lissencephaly with abnormal genitalia" EXACT CLINGEN_LABEL [] -synonym: "X-linked lissencephaly with ambiguous genitalia" EXACT [Orphanet:452] -synonym: "X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome" EXACT [Orphanet:452] -synonym: "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" EXACT [Orphanet:452] -synonym: "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT [Orphanet:452] +synonym: "X-linked lissencephaly with abnormal genitalia" EXACT CLINGEN_LABEL [DOID:0112238, Orphanet:452] +synonym: "X-linked lissencephaly with ambiguous genitalia" EXACT [DOID:0112238, Orphanet:452] +synonym: "X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome" EXACT [] +synonym: "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" EXACT [DOID:0112238, Orphanet:452] +synonym: "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT [DOID:0112238, Orphanet:452] synonym: "XLAG syndrome" RELATED [GARD:0012491] -synonym: "Xlisg" RELATED [OMIM:300215] +synonym: "Xlisg" RELATED [] xref: DOID:0112238 {source="MONDO:equivalentTo"} xref: GARD:12491 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:452/attributed", source="Orphanet:452/ntbt", source="Orphanet:452"} @@ -226851,13 +226887,13 @@ subset: ordo_disorder {source="Orphanet:190"} subset: orphanet_rare {source="Orphanet:190"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Coats disease" EXACT [OMIM:300216] +synonym: "Coats disease" EXACT [DOID:7765, icd11.foundation:2032707885, OMIM:300216, Orphanet:190] synonym: "Coats' disease" EXACT [DOID:7765] synonym: "Coats' syndrome" EXACT [DOID:7765] synonym: "congenital retinal telangiectasia" EXACT [Orphanet:190] synonym: "exudative retinopathy" EXACT [DOID:7765, ICD9CM:362.12] synonym: "Leber miliary aneurysm" EXACT [Orphanet:190] -synonym: "retinal telangiectasis" RELATED [OMIM:300216] +synonym: "retinal telangiectasis" RELATED [] xref: DOID:7765 {source="MONDO:equivalentTo"} xref: GARD:6121 {source="MONDO:GARD"} xref: ICD10CM:H35.0 {source="Orphanet:190/inclusion", source="Orphanet:190/ntbt", source="Orphanet:190"} @@ -226891,18 +226927,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:85274"} subset: orphanet_rare {source="Orphanet:85274"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ahmad X-linked intellectual disability syndrome" RELATED [OMIM:300218] -synonym: "Ahmad X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:300218] +synonym: "Ahmad X-linked intellectual disability syndrome" RELATED [] +synonym: "Ahmad X-linked mental retardation syndrome" RELATED DEPRECATED [] synonym: "intellectual disability X-linked syndromic 7" RELATED [GARD:0009156] synonym: "intellectual disability, obesity, hypogonadism, and tapering fingers" RELATED [GARD:0009156] -synonym: "intellectual disability, X-linked syndromic 7" EXACT [DOID:0060808] -synonym: "intellectual disability, X-linked, syndromic 7" RELATED [MONDO:Lexical, OMIM:300218] +synonym: "intellectual disability, X-linked syndromic 7" EXACT [] +synonym: "intellectual disability, X-linked, syndromic 7" RELATED [MONDO:Lexical] synonym: "mental retardation X-linked syndromic 7" RELATED DEPRECATED [GARD:0009156] synonym: "mental retardation, obesity, hypogonadism, and tapering fingers" RELATED DEPRECATED [GARD:0009156] synonym: "mental retardation, X-linked syndromic 7" EXACT DEPRECATED [DOID:0060808] -synonym: "mental retardation, X-linked, syndromic 7" RELATED DEPRECATED [MONDO:Lexical, OMIM:300218] +synonym: "mental retardation, X-linked, syndromic 7" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRXS7" EXACT ABBREVIATION [DOID:0060808, MONDO:Lexical, OMIM:300218, Orphanet:85274] -synonym: "syndromic X-linked intellectual disability type 7" EXACT [DOID:0060808, MONDORULE:1, Orphanet:85274] +synonym: "syndromic X-linked intellectual disability type 7" EXACT [MONDORULE:1] synonym: "X-linked intellectual disability, Ahmad type" EXACT [DOID:0060808, Orphanet:85274] xref: DOID:0060808 {source="MONDO:equivalentTo"} xref: GARD:9156 {source="MONDO:GARD"} @@ -226926,7 +226962,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:456328"} subset: orphanet_rare {source="Orphanet:456328"} subset: rare -synonym: "myotubular myopathy with abnormal genital development" RELATED [OMIM:300219] +synonym: "myotubular myopathy with abnormal genital development" RELATED [] synonym: "Xq28 contiguous gene deletion syndrome" EXACT [Orphanet:456328] xref: GARD:17792 {source="MONDO:GARD"} xref: MEDGEN:335354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -226959,8 +226995,8 @@ id: MONDO:0010273 name: lymphoma, Hodgkin, X-linked pseudoautosomal subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Hodgkin disease susceptibility, pseudoautosomal" EXACT [OMIM:300221, OMIM:genemap2] -synonym: "Hodgkin disease, X-linked Pseudoautosomal" RELATED [OMIM:300221] +synonym: "Hodgkin disease susceptibility, pseudoautosomal" EXACT [] +synonym: "Hodgkin disease, X-linked Pseudoautosomal" RELATED [] synonym: "lymphoma, Hodgkin, X-linked pseudoautosomal" EXACT [OMIM:300221] xref: MEDGEN:335352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538326 {source="MONDO:equivalentTo"} @@ -226976,7 +227012,7 @@ name: testicular germ cell tumor 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "testicular germ cell tumor" BROAD [OMIM:300228, OMIM:genemap2] +synonym: "testicular germ cell tumor" BROAD [] synonym: "testicular germ cell tumor 1" EXACT [MONDO:Lexical, OMIM:300228] synonym: "testicular germ cell tumour" BROAD OMO:0003005 [] synonym: "TGCT1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300228] @@ -226997,17 +227033,17 @@ subset: ordo_disorder {source="Orphanet:83629"} subset: orphanet_rare {source="Orphanet:83629"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "H-SMD" EXACT [Orphanet:83629] +synonym: "H-SMD" EXACT ABBREVIATION [Orphanet:83629] synonym: "hypomyelination-spondyloepimetaphyseal dysplasia syndrome" EXACT [Orphanet:83629] -synonym: "leukoencephalopathy with metaphyseal chondrodysplasia" RELATED [MONDO:Lexical, OMIM:300660] +synonym: "leukoencephalopathy with metaphyseal chondrodysplasia" RELATED [MONDO:Lexical] synonym: "leukoencephalopathy-metaphyseal chondrodysplasia syndrome" EXACT [Orphanet:83629] synonym: "leukoencephalopathy-SEMD syndrome" EXACT [Orphanet:83629] -synonym: "LKMCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300660] +synonym: "LKMCD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SEMD X-linked with mental deterioration" RELATED [GARD:0004891] -synonym: "SEMD, X-linked, with mental deterioration" RELATED [OMIM:300232] +synonym: "SEMD, X-linked, with mental deterioration" RELATED [] synonym: "spondyloepimetaphyseal dysplasia X-linked with mental deterioration" RELATED [GARD:0004891] -synonym: "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive" EXACT [OMIM:300232, OMIM:genemap2] -synonym: "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" RELATED [OMIM:300232] +synonym: "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive" EXACT [] +synonym: "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" RELATED [] xref: GARD:4891 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="Orphanet:83629/attributed", source="Orphanet:83629/ntbt", source="MONDO:directSiblingOf", source="Orphanet:83629"} xref: ICD10CM:Q77.7 {source="Orphanet:168448", source="Orphanet:168448/attributed", source="Orphanet:168448/ntbt"} @@ -227029,7 +227065,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010276 name: radioulnar synostosis, radial ray abnormalities, and severe malformations in the male -synonym: "radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE" RELATED [OMIM:300233] +synonym: "radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE" RELATED [] xref: MEDGEN:335349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564557 {source="MONDO:equivalentTo"} xref: OMIM:300233 {source="MONDO:equivalentTo"} @@ -227047,24 +227083,24 @@ subset: ordo_malformation_syndrome {source="Orphanet:85286"} subset: orphanet_rare {source="Orphanet:85286"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive" EXACT [OMIM:300238, OMIM:genemap2] +synonym: "intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive" EXACT [] synonym: "intellectual disability X-linked Shashi type" RELATED [GARD:0004119] synonym: "intellectual disability X-linked syndromic 11" RELATED [GARD:0004119] -synonym: "intellectual disability, X-linked, Shashi type" RELATED [OMIM:300238] -synonym: "intellectual disability, X-linked, syndromic 11" RELATED [MONDO:Lexical, OMIM:300238] -synonym: "intellectual disability, X-linked, syndromic 11, Shashi type" EXACT [DOID:0060826] +synonym: "intellectual disability, X-linked, Shashi type" RELATED [] +synonym: "intellectual disability, X-linked, syndromic 11" RELATED [MONDO:Lexical] +synonym: "intellectual disability, X-linked, syndromic 11, Shashi type" EXACT [] synonym: "mental retardation X-linked Shashi type" RELATED DEPRECATED [GARD:0004119] synonym: "mental retardation X-linked syndromic 11" RELATED DEPRECATED [GARD:0004119] -synonym: "mental retardation, X-linked, Shashi type" RELATED DEPRECATED [OMIM:300238] -synonym: "mental retardation, X-linked, syndromic 11" RELATED DEPRECATED [MONDO:Lexical, OMIM:300238] +synonym: "mental retardation, X-linked, Shashi type" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic 11" RELATED DEPRECATED [MONDO:Lexical] synonym: "mental retardation, X-linked, syndromic 11, Shashi type" EXACT DEPRECATED [DOID:0060826] -synonym: "MRXS11" EXACT ABBREVIATION [DOID:0060826, MONDO:Lexical, OMIM:300238] -synonym: "Shashi X-linked intellectual disability syndrome" EXACT [DOID:0060826, OMIM:300238] +synonym: "MRXS11" EXACT ABBREVIATION [DOID:0060826, MONDO:Lexical] +synonym: "Shashi X-linked intellectual disability syndrome" EXACT [] synonym: "Shashi X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060826, OMIM:300238] synonym: "SMRXS" EXACT ABBREVIATION [DOID:0060826] synonym: "syndromic X-linked intellectual disability type 11" EXACT [DOID:0060826, Orphanet:85286] -synonym: "X-linked intellectual disability Shashi type" EXACT [DOID:0060826] -synonym: "X-linked intellectual disability, Shashi type" RELATED [Orphanet:85286] +synonym: "X-linked intellectual disability Shashi type" EXACT [] +synonym: "X-linked intellectual disability, Shashi type" RELATED [] synonym: "X-linked mental retardation Shashi type" EXACT DEPRECATED [DOID:0060826] xref: DOID:0060826 {source="MONDO:equivalentTo"} xref: GARD:4119 {source="MONDO:GARD"} @@ -227094,23 +227130,23 @@ subset: orphanet_rare {source="Orphanet:85278"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Angelman-like syndrome X-linked" RELATED [GARD:0010572] -synonym: "Angelman-like syndrome, X-linked" RELATED [OMIM:300243] -synonym: "Christianson syndrome" EXACT CLINGEN_LABEL [] -synonym: "intellectual developmental disorder, X-linked syndromic, Christianson type" EXACT [OMIM:300243, OMIM:genemap2] +synonym: "Angelman-like syndrome, X-linked" RELATED [] +synonym: "Christianson syndrome" EXACT CLINGEN_LABEL [DOID:0060825, Orphanet:85278] +synonym: "intellectual developmental disorder, X-linked syndromic, Christianson type" EXACT [] synonym: "intellectual disability microcephaly epilepsy and ataxia syndrome" RELATED [GARD:0010572] synonym: "intellectual disability X-linked syndromic Christianson type" RELATED [GARD:0010572] -synonym: "intellectual disability, microcephaly, epilepsy, and ataxia syndrome" EXACT [DOID:0060825, OMIM:300243] -synonym: "intellectual disability, X-linked syndromic, Christianson type" EXACT [DOID:0060825] -synonym: "intellectual disability, X-linked, syndromic, Christianson type" RELATED [MONDO:Lexical, OMIM:300243] +synonym: "intellectual disability, microcephaly, epilepsy, and ataxia syndrome" EXACT [] +synonym: "intellectual disability, X-linked syndromic, Christianson type" EXACT [] +synonym: "intellectual disability, X-linked, syndromic, Christianson type" RELATED [MONDO:Lexical] synonym: "mental retardation, microcephaly, epilepsy, and ataxia syndrome" EXACT DEPRECATED [DOID:0060825, OMIM:300243] synonym: "mental retardation, X-linked syndromic, Christianson type" EXACT DEPRECATED [DOID:0060825] -synonym: "mental retardation, X-linked, syndromic, Christianson type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300243] +synonym: "mental retardation, X-linked, syndromic, Christianson type" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRXS Christianson" RELATED [GARD:0010572] synonym: "MRXSCH" EXACT ABBREVIATION [DOID:0060825, MONDO:Lexical, OMIM:300243] synonym: "X-linked Angelman-like syndrome" EXACT [DOID:0060825, Orphanet:85278] synonym: "X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy" RELATED [GARD:0010572] -synonym: "X-linked intellectual disability, South African type" EXACT [DOID:0060825, Orphanet:85278] -synonym: "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT [DOID:0060825, Orphanet:85278] +synonym: "X-linked intellectual disability, South African type" EXACT [DOID:0060825] +synonym: "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT [DOID:0060825] xref: DOID:0060825 {source="MONDO:equivalentTo"} xref: GARD:10572 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85278/attributed", source="Orphanet:85278/ntbt", source="Orphanet:85278", source="DOID:0060825"} @@ -227142,13 +227178,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:88630"} subset: orphanet_rare {source="Orphanet:88630"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Odpd" RELATED [OMIM:300244] -synonym: "Odpf syndrome" RELATED [OMIM:300244] -synonym: "osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula" RELATED [OMIM:300244] -synonym: "terminal osseous dysplasia" RELATED [MONDO:Lexical, OMIM:300244] -synonym: "terminal osseous dysplasia and pigmentary defects" RELATED [OMIM:300244] -synonym: "terminal osseous dysplasia, X-linked dominant" EXACT [OMIM:300244, OMIM:genemap2] -synonym: "TOD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300244] +synonym: "Odpd" RELATED [] +synonym: "Odpf syndrome" RELATED [] +synonym: "osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula" RELATED [] +synonym: "terminal osseous dysplasia" RELATED [MONDO:Lexical] +synonym: "terminal osseous dysplasia and pigmentary defects" RELATED [] +synonym: "terminal osseous dysplasia, X-linked dominant" EXACT [] +synonym: "TOD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0112149 {source="MONDO:equivalentTo"} xref: GARD:16769 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:88630/attributed", source="Orphanet:88630/ntbt", source="Orphanet:88630"} @@ -227170,11 +227206,11 @@ id: MONDO:0010280 name: ptosis, hereditary congenital 2 subset: gard_rare {source="GARD:18163", source="MONDO:GARD"} subset: rare -synonym: "Ptos2" RELATED [OMIM:300245] +synonym: "Ptos2" RELATED [] synonym: "ptosis, hereditary congenital 2" EXACT [OMIM:300245] -synonym: "ptosis, hereditary congenital 2, X-linked dominant" EXACT [OMIM:300245, OMIM:genemap2] -synonym: "ptosis, hereditary congenital type 2" EXACT [MONDORULE:1, OMIM:300245] -synonym: "ptosis, X-linked" RELATED [OMIM:300245] +synonym: "ptosis, hereditary congenital 2, X-linked dominant" EXACT [] +synonym: "ptosis, hereditary congenital type 2" EXACT [MONDORULE:1] +synonym: "ptosis, X-linked" RELATED [] xref: GARD:18163 {source="MONDO:GARD"} xref: MEDGEN:337515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564553 {source="MONDO:equivalentTo"} @@ -227197,31 +227233,31 @@ subset: ordo_disorder {source="Orphanet:34587"} subset: orphanet_rare {source="Orphanet:34587"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ANTOPOL disease" EXACT [DOID:0050437] -synonym: "Antopol disease" RELATED [OMIM:300257] -synonym: "Danon disease" EXACT CLINGEN_LABEL [OMIM:300257, Orphanet:34587] -synonym: "Danon disease, X-linked dominant" EXACT [OMIM:300257, OMIM:genemap2] +synonym: "ANTOPOL disease" EXACT [DOID:0050437, OMIM:300257] +synonym: "Antopol disease" RELATED [] +synonym: "Danon disease" EXACT CLINGEN_LABEL [DOID:0050437, icd11.foundation:1233188442, NCIT:C84735, OMIM:300257, Orphanet:34587] +synonym: "Danon disease, X-linked dominant" EXACT [] synonym: "glycogen storage cardiomyopathy" RELATED [GARD:0009730] -synonym: "glycogen storage disease due to LAMP-2 deficiency" RELATED [Orphanet:34587] -synonym: "glycogen storage disease IIb" RELATED [OMIM:300257] +synonym: "glycogen storage disease due to LAMP-2 deficiency" RELATED [] +synonym: "glycogen storage disease IIb" RELATED [] synonym: "glycogen storage disease limited to the heart" RELATED [GARD:0009730] synonym: "glycogen storage disease type 2b (formerly)" RELATED [GARD:0009730] synonym: "glycogen storage disease type IIb" EXACT [NCIT:C84735] synonym: "glycogenosis due to LAMP-2 deficiency" EXACT [Orphanet:34587] synonym: "GSD due to LAMP-2 deficiency" EXACT [Orphanet:34587] -synonym: "GSD IIb" RELATED [OMIM:300257] -synonym: "GSD IIb, formerly" RELATED [OMIM:300257] +synonym: "GSD IIb" RELATED [] +synonym: "GSD IIb, formerly" RELATED [] synonym: "GSD2B (formerly)" RELATED [GARD:0009730] synonym: "LAMP2 lysosomal glycogen storage disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "lysosomal glycogen storage disease caused by mutation in LAMP2" EXACT [] synonym: "lysosomal glycogen storage disease with normal acid maltase activity" EXACT [Orphanet:34587] -synonym: "lysosomal glycogen storage disease without acid maltase deficiency" RELATED [OMIM:300257] +synonym: "lysosomal glycogen storage disease without acid maltase deficiency" RELATED [] synonym: "lysosomal glycogen storage disease without acid maltase deficiency (formerly)" RELATED [GARD:0009730] -synonym: "lysosomal glycogen storage disease without acid maltase deficiency, formerly" RELATED [OMIM:300257] -synonym: "pseudoglycogenosis 2" RELATED [OMIM:300257] +synonym: "lysosomal glycogen storage disease without acid maltase deficiency, formerly" RELATED [] +synonym: "pseudoglycogenosis 2" RELATED [] synonym: "pseudoglycogenosis II" EXACT [DOID:0050437] synonym: "vacuolar cardiomyopathy and myopathy X-linked" RELATED [GARD:0009730] -synonym: "vacuolar cardiomyopathy and myopathy, X-linked" RELATED [OMIM:300257] +synonym: "vacuolar cardiomyopathy and myopathy, X-linked" RELATED [] synonym: "X-linked vacuolar cardiomyopathy and myopathy" RELATED [GARD:0009730] xref: DOID:0050437 {source="MONDO:equivalentTo"} xref: EFO:1001333 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -227254,8 +227290,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9730/danon-d id: MONDO:0010282 name: Mycobacterium tuberculosis, susceptibility to, X-linked subset: predisposition -synonym: "MTBSX" RELATED ABBREVIATION [OMIM:300259] -synonym: "Mycobacterium tuberculosis, susceptibility, X-linked" EXACT [OMIM:300259, OMIM:genemap2] +synonym: "MTBSX" RELATED ABBREVIATION [] +synonym: "Mycobacterium tuberculosis, susceptibility, X-linked" EXACT [] xref: MEDGEN:357096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300259 {source="MONDO:equivalentTo"} xref: UMLS:C1866629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:357096"} @@ -227276,24 +227312,24 @@ subset: ordo_malformation_syndrome {source="Orphanet:1762"} subset: orphanet_rare {source="Orphanet:1762"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "distal duplication Xq" EXACT [Orphanet:1762] -synonym: "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive" EXACT [OMIM:300260, OMIM:genemap2] +synonym: "distal duplication Xq" EXACT [] +synonym: "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive" EXACT [] synonym: "intellectual disability, X-linked, Lubs type (formerly)" RELATED [GARD:0009781] -synonym: "intellectual disability, X-linked, syndromic, Lubs type" EXACT [DOID:0060799] -synonym: "intellectual disability, X-linked, with recurrent respiratory infections" EXACT [DOID:0060799, OMIM:300260] -synonym: "Lubs X-linked intellectual disability syndrome" EXACT [DOID:0060799, MONDO:Lexical, OMIM:300260] +synonym: "intellectual disability, X-linked, syndromic, Lubs type" EXACT [] +synonym: "intellectual disability, X-linked, with recurrent respiratory infections" EXACT [] +synonym: "Lubs X-linked intellectual disability syndrome" EXACT [MONDO:Lexical] synonym: "Lubs X-linked intellectual disability syndrome (formerly)" RELATED [GARD:0009781] -synonym: "Lubs X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060799, MONDO:Lexical, OMIM:300260] +synonym: "Lubs X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060799, MONDO:Lexical, NCIT:C126747, OMIM:300260] synonym: "Lubs X-linked mental retardation syndrome (formerly)" RELATED DEPRECATED [GARD:0009781] -synonym: "MECP2 Duplication syndrome" RELATED [OMIM:300260] -synonym: "MECP2 duplication syndrome" EXACT [DOID:0060799] +synonym: "MECP2 Duplication syndrome" RELATED [] +synonym: "MECP2 duplication syndrome" EXACT [DOID:0060799, NCIT:C126747, OMIM:300260, Orphanet:1762] synonym: "mental retardation, X-linked, Lubs type (formerly)" RELATED DEPRECATED [GARD:0009781] synonym: "mental retardation, X-linked, syndromic, Lubs type" EXACT DEPRECATED [DOID:0060799] synonym: "mental retardation, X-linked, with recurrent respiratory infections" EXACT DEPRECATED [DOID:0060799, OMIM:300260] -synonym: "MRXSL" EXACT ABBREVIATION [DOID:0060799, MONDO:Lexical, OMIM:300260] -synonym: "syndromic X-linked intellectual disability Lubs type" EXACT CLINGEN_LABEL [] -synonym: "telomeric duplication Xq" EXACT [Orphanet:1762] -synonym: "trisomy Xq28" RELATED [Orphanet:1762] +synonym: "MRXSL" EXACT ABBREVIATION [DOID:0060799, MONDO:Lexical, NCIT:C126747, OMIM:300260] +synonym: "syndromic X-linked intellectual disability Lubs type" EXACT CLINGEN_LABEL [DOID:0060799] +synonym: "telomeric duplication Xq" EXACT [] +synonym: "trisomy Xq28" RELATED [] synonym: "X-linked intellectual disability-hypotonia-recurrent infections syndrome" EXACT [DOID:0060799] synonym: "XLMR syndrome, Lubs type" RELATED [GARD:0009781] synonym: "Xq28 (MECP2) duplication" EXACT [DECIPHER:45] @@ -227334,19 +227370,19 @@ subset: ordo_malformation_syndrome {source="Orphanet:85276"} subset: orphanet_rare {source="Orphanet:85276"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Armfield syndrome" EXACT [Orphanet:85276] -synonym: "Armfield X-linked intellectual disability syndrome" EXACT [DOID:0050764, MONDO:Lexical, OMIM:300261] +synonym: "Armfield syndrome" EXACT [DOID:0050764, Orphanet:85276] +synonym: "Armfield X-linked intellectual disability syndrome" EXACT [MONDO:Lexical] synonym: "Armfield X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0050764, MONDO:Lexical, OMIM:300261] -synonym: "intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive" EXACT [OMIM:300261, OMIM:genemap2] -synonym: "intellectual disability syndrome, X-linked, Armfield type" EXACT [DOID:0050764] -synonym: "intellectual disability, X-linked, syndromic, Armfield type" RELATED [OMIM:300261] +synonym: "intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive" EXACT [] +synonym: "intellectual disability syndrome, X-linked, Armfield type" EXACT [] +synonym: "intellectual disability, X-linked, syndromic, Armfield type" RELATED [] synonym: "mental retardation syndrome, X-linked, Armfield type" EXACT DEPRECATED [DOID:0050764] -synonym: "mental retardation syndrome, X-linked, armfield type, X-linked recessive" EXACT [OMIM:300261, OMIM:genemap2] -synonym: "mental retardation, X-linked, syndromic, Armfield type" RELATED DEPRECATED [OMIM:300261] +synonym: "mental retardation syndrome, X-linked, armfield type, X-linked recessive" EXACT [] +synonym: "mental retardation, X-linked, syndromic, Armfield type" RELATED DEPRECATED [] synonym: "MRXSA" EXACT ABBREVIATION [DOID:0050764, MONDO:Lexical, OMIM:300261] -synonym: "syndromic X-linked intellectual disability Armfield type" EXACT [DOID:0050764] +synonym: "syndromic X-linked intellectual disability Armfield type" EXACT [] synonym: "syndromic X-linked mental retardation Armfield type" EXACT DEPRECATED [DOID:0050764] -synonym: "X-linked intellectual disability, Armfield type" EXACT [DOID:0050764] +synonym: "X-linked intellectual disability, Armfield type" EXACT [DOID:0050764, Orphanet:85276] xref: DOID:0050764 {source="MONDO:equivalentTo"} xref: GARD:16742 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85276", source="DOID:0050764", source="Orphanet:85276/attributed", source="Orphanet:85276/ntbt"} @@ -227372,18 +227408,18 @@ subset: ordo_disorder {source="Orphanet:85273"} subset: ordo_malformation_syndrome {source="Orphanet:85273"} subset: orphanet_rare {source="Orphanet:85273"} subset: rare -synonym: "ABIDI X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:300262] -synonym: "ABIDI X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:300262] +synonym: "ABIDI X-linked intellectual disability syndrome" RELATED [MONDO:Lexical] +synonym: "ABIDI X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical] synonym: "intellectual disability X-linked Abidi type" RELATED [GARD:0009157] -synonym: "intellectual disability, X-linked syndromic, Abidi type" EXACT [DOID:0060818] -synonym: "intellectual disability, X-linked, syndromic, Abidi type" RELATED [OMIM:300262] +synonym: "intellectual disability, X-linked syndromic, Abidi type" EXACT [] +synonym: "intellectual disability, X-linked, syndromic, Abidi type" RELATED [] synonym: "mental retardation, X-linked syndromic, Abidi type" EXACT DEPRECATED [DOID:0060818] -synonym: "mental retardation, X-linked, syndromic, Abidi type" RELATED DEPRECATED [OMIM:300262] +synonym: "mental retardation, X-linked, syndromic, Abidi type" RELATED DEPRECATED [] synonym: "MRXSAB" EXACT ABBREVIATION [DOID:0060818, MONDO:Lexical, OMIM:300262] synonym: "short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes" RELATED [GARD:0009157] synonym: "syndromic X-linked intellectual disability Abidi type" EXACT [DOID:0060818] synonym: "syndromic X-linked mental retardation Abidi type" EXACT DEPRECATED [DOID:0060818] -synonym: "X-linked intellectual disability, Abidi type" RELATED [Orphanet:85273] +synonym: "X-linked intellectual disability, Abidi type" RELATED [] xref: DOID:0060818 {source="MONDO:equivalentTo"} xref: GARD:9157 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="DOID:0060818", source="Orphanet:85273/attributed", source="Orphanet:85273/ntbt", source="Orphanet:85273"} @@ -227408,21 +227444,21 @@ subset: orphanet_rare {source="Orphanet:85287"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "intellectual deficit X-linked Siderius type" RELATED [GARD:0009704] -synonym: "intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive" EXACT [OMIM:300263, OMIM:genemap2] -synonym: "intellectual disability syndrome, X-linked, Siderius type" EXACT [DOID:0060812] +synonym: "intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessive" EXACT [] +synonym: "intellectual disability syndrome, X-linked, Siderius type" EXACT [] synonym: "intellectual disability X-linked Siderius type" RELATED [GARD:0009704] -synonym: "intellectual disability, X-linked, syndromic, Siderius type" RELATED [OMIM:300263] +synonym: "intellectual disability, X-linked, syndromic, Siderius type" RELATED [] synonym: "mental retardation syndrome, X-linked, Siderius type" EXACT DEPRECATED [DOID:0060812] synonym: "mental retardation X-linked Siderius type" RELATED DEPRECATED [GARD:0009704] -synonym: "mental retardation, X-linked, syndromic, Siderius type" RELATED DEPRECATED [OMIM:300263] +synonym: "mental retardation, X-linked, syndromic, Siderius type" RELATED DEPRECATED [] synonym: "MRXSSD" EXACT ABBREVIATION [DOID:0060812, MONDO:Lexical, OMIM:300263] synonym: "Siderius Hamel syndrome" RELATED [GARD:0009704] -synonym: "Siderius X-linked intellectual disability syndrome" EXACT [DOID:0060812, MONDO:Lexical, OMIM:300263] +synonym: "Siderius X-linked intellectual disability syndrome" EXACT [MONDO:Lexical] synonym: "Siderius X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060812, MONDO:Lexical, OMIM:300263] synonym: "Siderius-Hamel syndrome" EXACT [DOID:0060812, OMIM:300263] -synonym: "syndromic X-linked intellectual disability Siderius type" EXACT CLINGEN_LABEL [] +synonym: "syndromic X-linked intellectual disability Siderius type" EXACT CLINGEN_LABEL [DOID:0060812] synonym: "X-linked intellectual disability Hamel type" RELATED [GARD:0009704] -synonym: "X-linked intellectual disability, Siderius type" RELATED [Orphanet:85287] +synonym: "X-linked intellectual disability, Siderius type" RELATED [] synonym: "X-linked mental retardation Hamel type" RELATED DEPRECATED [GARD:0009704] xref: DOID:0060812 {source="MONDO:equivalentTo"} xref: GARD:9704 {source="MONDO:GARD"} @@ -227448,13 +227484,13 @@ subset: ordo_disorder {source="Orphanet:100997"} subset: orphanet_rare {source="Orphanet:100997"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary spastic paraplegia type 16" EXACT [DOID:0110769, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 16" EXACT [MONDORULE:2] synonym: "spastic paraplegia 16" RELATED [GARD:0009585] -synonym: "spastic paraplegia 16, X-linked" RELATED [MONDO:Lexical, OMIM:300266] -synonym: "spastic paraplegia 16, X-linked, complicated, X-linked recessive" EXACT [OMIM:300266, OMIM:genemap2] +synonym: "spastic paraplegia 16, X-linked" RELATED [MONDO:Lexical] +synonym: "spastic paraplegia 16, X-linked, complicated, X-linked recessive" EXACT [] synonym: "SPG16" EXACT ABBREVIATION [DOID:0110769, MONDO:Lexical, OMIM:300266, Orphanet:100997] synonym: "X-linked spastic paraplegia 16" EXACT [DOID:0110769] -synonym: "X-linked spastic paraplegia type 16" EXACT [DOID:0110769] +synonym: "X-linked spastic paraplegia type 16" EXACT [DOID:0110769, Orphanet:100997] xref: DOID:0110769 {source="MONDO:equivalentTo"} xref: GARD:9585 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="DOID:0110769", source="Orphanet:100997", source="Orphanet:100997/attributed", source="Orphanet:100997/ntbt"} @@ -227475,7 +227511,7 @@ subset: ordo_disorder {source="Orphanet:977"} subset: orphanet_rare {source="Orphanet:977"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adrenomyodystrophy" EXACT [OMIM:300270] +synonym: "adrenomyodystrophy" EXACT [icd11.foundation:46666832, OMIM:300270, Orphanet:977] xref: GARD:562 {source="MONDO:GARD"} xref: icd11.foundation:46666832 {source="MONDO:equivalentTo"} xref: MEDGEN:337494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -227493,12 +227529,12 @@ name: intellectual disability, X-linked 72 subset: gard_rare {source="GARD:22671", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 72, X-linked recessive" EXACT [OMIM:300271, OMIM:genemap2] -synonym: "intellectual disability, X-linked 72" EXACT [MONDO:Lexical, OMIM:300271] -synonym: "intellectual disability, X-linked type 72" EXACT [MONDORULE:2, OMIM:300271] -synonym: "mental retardation, X-linked 72" RELATED DEPRECATED [MONDO:Lexical, OMIM:300271] -synonym: "mental retardation, X-linked type 72" EXACT DEPRECATED [MONDORULE:2, OMIM:300271] -synonym: "MRX72" RELATED DEPRECATED [MONDO:Lexical, OMIM:300271] +synonym: "intellectual developmental disorder, X-linked 72, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 72" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 72" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 72" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 72" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX72" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0112059 {source="MONDO:equivalentTo"} xref: GARD:22671 {source="MONDO:GARD"} xref: MEDGEN:375793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -227514,7 +227550,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010290 name: goiter, multinodular 2 synonym: "goiter, multinodular 2" EXACT [MONDO:Lexical, OMIM:300273] -synonym: "goiter, multinodular, 2, X-linked dominant" EXACT [OMIM:300273, OMIM:genemap2] +synonym: "goiter, multinodular, 2, X-linked dominant" EXACT [] synonym: "MNG2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300273] xref: MEDGEN:337370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564546 {source="MONDO:equivalentTo"} @@ -227527,7 +227563,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010291 name: obsolete androgen insensitivity syndrome due to coactivator deficiency -synonym: "androgen insensitivity syndrome due to coactivator deficiency" RELATED [OMIM:300274] +synonym: "androgen insensitivity syndrome due to coactivator deficiency" RELATED [] xref: MESH:C564545 xref: OMIM:300274 {source="MONDO:obsoleteEquivalentObsolete"} is_obsolete: true @@ -227539,12 +227575,12 @@ name: Uruguay Faciocardiomusculoskeletal syndrome subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "faciocardiomusculoskeletal syndrome, Uruguay type" RELATED [OMIM:300280] -synonym: "Fcms" RELATED [OMIM:300280] -synonym: "FCMSU" RELATED ABBREVIATION [OMIM:300280] -synonym: "URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome" RELATED [OMIM:300280] -synonym: "Uruguay Faciocardiomusculoskeletal syndrome" EXACT [OMIM:300280] -synonym: "uruguay faciocardiomusculoskeletal syndrome, X-linked recessive" EXACT [OMIM:300280, OMIM:genemap2] +synonym: "faciocardiomusculoskeletal syndrome, Uruguay type" RELATED [] +synonym: "Fcms" RELATED [] +synonym: "FCMSU" RELATED ABBREVIATION [] +synonym: "URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome" RELATED [] +synonym: "Uruguay Faciocardiomusculoskeletal syndrome" EXACT [DOID:0112148, OMIM:300280] +synonym: "uruguay faciocardiomusculoskeletal syndrome, X-linked recessive" EXACT [] xref: DOID:0112148 {source="MONDO:equivalentTo"} xref: MEDGEN:335320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564544 {source="MONDO:equivalentTo"} @@ -227565,16 +227601,16 @@ subset: ordo_disorder {source="Orphanet:98813"} subset: orphanet_rare {source="Orphanet:98813"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anhidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C118844] +synonym: "anhidrotic ectodermal dysplasia with immune deficiency" EXACT [DOID:0081077, NCIT:C118844] synonym: "anhidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet:98813] -synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency" RELATED [OMIM:300291] -synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency" RELATED [OMIM:300291] -synonym: "EDA-ID" EXACT [OMIM:300291, Orphanet:98813] -synonym: "HED-ID" EXACT [OMIM:300291, Orphanet:98813] -synonym: "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia" RELATED [OMIM:300291] +synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency" RELATED [] +synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency" RELATED [] +synonym: "EDA-ID" EXACT ABBREVIATION [NCIT:C118844, Orphanet:98813] +synonym: "HED-ID" EXACT ABBREVIATION [Orphanet:98813] +synonym: "hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia" RELATED [] synonym: "hypohidrotic ectodermal dysplasia with immune deficiency" EXACT [NCIT:C118844] synonym: "hypohidrotic ectodermal dysplasia with immunodeficiency" EXACT [Orphanet:98813] -synonym: "Xhm-Ed" RELATED [OMIM:300291] +synonym: "Xhm-Ed" RELATED [] xref: DOID:0081077 {source="MONDO:equivalentTo"} xref: GARD:9936 {source="MONDO:GARD"} xref: ICD10CM:D82.8 {source="Orphanet:98813", source="Orphanet:98813/attributed", source="Orphanet:98813/ntbt"} @@ -227605,13 +227641,13 @@ subset: ordo_disorder {source="Orphanet:86788"} subset: orphanet_rare {source="Orphanet:86788"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neutropenia, severe congenital, X-linked" RELATED [MONDO:Lexical, OMIM:300299] -synonym: "neutropenia, severe congenital, X-linked, X-linked recessive" EXACT [OMIM:300299, OMIM:genemap2] -synonym: "SCNX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300299] +synonym: "neutropenia, severe congenital, X-linked" RELATED [MONDO:Lexical] +synonym: "neutropenia, severe congenital, X-linked, X-linked recessive" EXACT [] +synonym: "SCNX" RELATED ABBREVIATION [MONDO:Lexical] synonym: "severe congenital neutropenia X-linked" RELATED [GARD:0003981] synonym: "severe congenital neutropenia, X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "X-linked severe congenital neutropenia" EXACT CLINGEN_LABEL [] -synonym: "Xln" RELATED [OMIM:300299] +synonym: "X-linked severe congenital neutropenia" EXACT CLINGEN_LABEL [DOID:0112128, Orphanet:86788] +synonym: "Xln" RELATED [] xref: DOID:0112128 {source="MONDO:equivalentTo"} xref: GARD:3981 {source="MONDO:GARD"} xref: ICD10CM:D70 {source="Orphanet:86788/attributed", source="Orphanet:86788/ntbt", source="Orphanet:86788"} @@ -227641,9 +227677,10 @@ subset: ordo_disorder {source="Orphanet:69088"} subset: orphanet_rare {source="Orphanet:69088"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema" RELATED [MONDO:Lexical, OMIM:300301] -synonym: "ol-EDA-ID" EXACT [Orphanet:69088] -synonym: "OLEDAID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300301] +synonym: "ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema" RELATED [MONDO:Lexical] +synonym: "OL-EDA-ID" EXACT ABBREVIATION [Orphanet:69088] +synonym: "ol-EDA-ID" EXACT [] +synonym: "OLEDAID" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16681 {source="MONDO:GARD"} xref: ICD10CM:Q78.2 {source="Orphanet:69088", source="Orphanet:69088/attributed", source="Orphanet:69088/ntbt"} xref: MEDGEN:929406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -227668,10 +227705,10 @@ subset: gard_rare {source="GARD:10007", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "agammaglobulinemia X-linked type 2" RELATED [GARD:0010007] -synonym: "agammaglobulinemia, X-linked, type 2" RELATED [MONDO:Lexical, OMIM:300310] -synonym: "AGMX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300310] -synonym: "immunodeficiency 61, X-linked recessive" EXACT [OMIM:300310, OMIM:genemap2] -synonym: "XLA2" RELATED ABBREVIATION [OMIM:300310] +synonym: "agammaglobulinemia, X-linked, type 2" RELATED [MONDO:Lexical] +synonym: "AGMX2" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 61, X-linked recessive" EXACT [] +synonym: "XLA2" RELATED ABBREVIATION [] xref: DOID:0111999 {source="MONDO:equivalentTo"} xref: GARD:10007 {source="MONDO:GARD"} xref: MEDGEN:337462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -227691,8 +227728,8 @@ name: FG syndrome 2 def: "Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene." [MONDO:patterns/disease_series_by_gene] synonym: "FG syndrome 2" EXACT [MONDO:Lexical, OMIM:300321] synonym: "FG syndrome caused by mutation in FLNA" EXACT [MONDO:design_pattern] -synonym: "FG syndrome type 2" EXACT [MONDORULE:1, OMIM:300321] -synonym: "FGS2" RELATED ABBREVIATION [GARD:0009923, MONDO:Lexical, OMIM:300321] +synonym: "FG syndrome type 2" EXACT [MONDORULE:1] +synonym: "FGS2" RELATED ABBREVIATION [GARD:0009923, MONDO:Lexical] synonym: "FLNA FG syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:337461 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300321 {source="GARD:0009923", source="MONDO:equivalentTo"} @@ -227715,34 +227752,34 @@ subset: ordo_disorder {source="Orphanet:510"} subset: orphanet_rare {source="Orphanet:510"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "complete hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT [DOID:1919] -synonym: "deficiency of IMP pyrophosphorylase" EXACT [DOID:1919] +synonym: "complete hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT [DOID:1919, icd11.foundation:1886495906] +synonym: "deficiency of IMP pyrophosphorylase" EXACT [DOID:1919, icd11.foundation:1886495906] synonym: "HG-PRT deficiency" EXACT [DOID:1919] synonym: "HPRT complete deficiency" EXACT [Orphanet:510] -synonym: "HPRT deficiency" RELATED [OMIM:300322] +synonym: "HPRT deficiency" RELATED [] synonym: "HPRT deficiency grade IV" EXACT [Orphanet:510] -synonym: "HPRT deficiency, complete" RELATED [OMIM:300322] -synonym: "HPRT deficiency, neurologic variant" RELATED [OMIM:300322] -synonym: "Hprt1 deficiency" RELATED [OMIM:300322] +synonym: "HPRT deficiency, complete" RELATED [] +synonym: "HPRT deficiency, neurologic variant" RELATED [] +synonym: "Hprt1 deficiency" RELATED [] synonym: "hypoxanthine guanine phospho-ribosyltransferase 1 deficiency" RELATED [GARD:0007226] -synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency" RELATED [OMIM:300322] +synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency" RELATED [] synonym: "hypoxanthine guanine phosphoribosyltransferase complete deficiency" EXACT [Orphanet:510] -synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency" BROAD EXCLUDE [DOID:1919] +synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency" BROAD EXCLUDE [] synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" EXACT [Orphanet:510] -synonym: "hypoxanthine-guanine phosphoribosyltransferase deficiency" RELATED EXCLUDE [DOID:1919] -synonym: "hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [ambiguous]" BROAD EXCLUDE [DOID:1919] -synonym: "hypoxanthine-guanine-phosphoribosyltransferase deficiency" RELATED EXCLUDE [DOID:1919] -synonym: "hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])" RELATED [DOID:1919] +synonym: "hypoxanthine-guanine phosphoribosyltransferase deficiency" RELATED EXCLUDE [] +synonym: "hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [ambiguous]" BROAD EXCLUDE [] +synonym: "hypoxanthine-guanine-phosphoribosyltransferase deficiency" RELATED EXCLUDE [] +synonym: "hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])" RELATED [] synonym: "Lesch - Nyhan syndrome" EXACT [DOID:1919] synonym: "Lesch Nyhan disease" RELATED [GARD:0007226] synonym: "Lesch Nyhan Syndrome" EXACT [NORD:1365] synonym: "Lesch Nyhan syndrome" RELATED [GARD:0007226] -synonym: "Lesch-Nyhan syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300322] -synonym: "Lesch-Nyhan syndrome, neurologic variant" RELATED [OMIM:300322] -synonym: "Lesch-Nyhan syndrome, X-linked recessive" EXACT [OMIM:300322, OMIM:genemap2] -synonym: "LNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300322] -synonym: "X-linked hyperuricemia" EXACT [DOID:1919] -synonym: "X-linked hyperuricemia (disorder) [ambiguous]" EXACT [DOID:1919] +synonym: "Lesch-Nyhan syndrome" EXACT CLINGEN_LABEL [DOID:1919, ICD10CM:E79.1, icd11.foundation:1886495906, MONDO:Lexical, NCIT:C61255, OMIM:300322, Orphanet:510] +synonym: "Lesch-Nyhan syndrome, neurologic variant" RELATED [] +synonym: "Lesch-Nyhan syndrome, X-linked recessive" EXACT [] +synonym: "LNS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "X-linked hyperuricemia" EXACT [DOID:1919, icd11.foundation:1886495906] +synonym: "X-linked hyperuricemia (disorder) [ambiguous]" EXACT [] xref: DOID:1919 {source="MONDO:equivalentTo"} xref: GARD:7226 {source="MONDO:GARD"} xref: ICD10CM:E79.1 {source="Orphanet:510", source="DOID:1919", source="MONDO:equivalentTo", source="Orphanet:510/e", source="Orphanet:510/specific"} @@ -227783,20 +227820,20 @@ subset: ordo_disorder {source="Orphanet:79233"} subset: orphanet_rare {source="Orphanet:79233"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gout, HPRT-related" RELATED [OMIM:300323] -synonym: "HPRT deficiency, grade I" EXACT [Orphanet:79233] -synonym: "HPRT deficiency, partial" RELATED [OMIM:300323] -synonym: "HPRT partial deficiency" EXACT [Orphanet:79233] -synonym: "HPRT-related gout" EXACT [Orphanet:79233] -synonym: "HPRT-related hyperuricemia" EXACT [Orphanet:79233] -synonym: "Hprt1 deficiency, partial" RELATED [OMIM:300323] -synonym: "HPRT1 partial deficiency" EXACT [Orphanet:79233] -synonym: "hyperuricemia, HRPT-related, X-linked recessive" EXACT [OMIM:300323, OMIM:genemap2] -synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial" RELATED [OMIM:300323] -synonym: "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency" EXACT [Orphanet:79233] -synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" EXACT [Orphanet:79233] -synonym: "KELLEY-Seegmiller syndrome" RELATED [OMIM:300323] -synonym: "Kelley-Seegmiller syndrome" EXACT [Orphanet:79233] +synonym: "gout, HPRT-related" RELATED [] +synonym: "HPRT deficiency, grade I" EXACT [DOID:0112127, Orphanet:79233] +synonym: "HPRT deficiency, partial" RELATED [] +synonym: "HPRT partial deficiency" EXACT [DOID:0112127, Orphanet:79233] +synonym: "HPRT-related gout" EXACT [DOID:0112127, Orphanet:79233] +synonym: "HPRT-related hyperuricemia" EXACT [DOID:0112127, Orphanet:79233] +synonym: "Hprt1 deficiency, partial" RELATED [] +synonym: "HPRT1 partial deficiency" EXACT [DOID:0112127, Orphanet:79233] +synonym: "hyperuricemia, HRPT-related, X-linked recessive" EXACT [] +synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial" RELATED [] +synonym: "hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency" EXACT [DOID:0112127, Orphanet:79233] +synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" EXACT [DOID:0112127, Orphanet:79233] +synonym: "KELLEY-Seegmiller syndrome" RELATED [] +synonym: "Kelley-Seegmiller syndrome" EXACT [DOID:0112127, OMIM:300323, Orphanet:79233] xref: DOID:0112127 {source="MONDO:equivalentTo"} xref: GARD:16710 {source="MONDO:GARD"} xref: ICD10CM:E79.8 {source="Orphanet:79233/attributed", source="Orphanet:79233/ntbt", source="Orphanet:79233"} @@ -227817,10 +227854,10 @@ name: intellectual disability, X-linked 53 subset: gard_rare {source="GARD:22672", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 53" EXACT [MONDO:Lexical, OMIM:300324] -synonym: "mental retardation, X-linked 53" RELATED DEPRECATED [MONDO:Lexical, OMIM:300324] -synonym: "mental retardation, X-linked 53, X-linked recessive" EXACT [OMIM:300324, OMIM:genemap2] -synonym: "MRX53" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300324] +synonym: "intellectual disability, X-linked 53" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 53" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 53, X-linked recessive" EXACT [] +synonym: "MRX53" EXACT ABBREVIATION [DOID:0112047, MONDO:Lexical] xref: DOID:0112047 {source="MONDO:equivalentTo"} xref: GARD:22672 {source="MONDO:GARD"} xref: MEDGEN:335296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -227847,19 +227884,19 @@ subset: gard_rare {source="GARD:2992", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1274"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hi syndrome" EXACT [Orphanet:435] -synonym: "HMI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300337] -synonym: "Hypomelanosis of Ito" EXACT [NORD:1274] -synonym: "hypomelanosis of Ito" EXACT [MONDO:Lexical, OMIM:300337, Orphanet:435] -synonym: "Incontinentia pigmenti achromians" RELATED [OMIM:300337] -synonym: "Incontinentia pigmenti type 1" EXACT [Orphanet:435] +synonym: "hi syndrome" EXACT [] +synonym: "HMI" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Hypomelanosis of Ito" EXACT [DOID:3156, NORD:1274, OMIM:300337] +synonym: "hypomelanosis of Ito" EXACT [DOID:3156, MONDO:Lexical, OMIM:300337] +synonym: "Incontinentia pigmenti achromians" RELATED [] +synonym: "Incontinentia pigmenti type 1" EXACT [] synonym: "Incontinentia pigmenti type 1 (formerly)" RELATED [GARD:0002992] -synonym: "Incontinentia pigmenti, type I" RELATED [OMIM:300337] -synonym: "Incontinentia pigmenti, type I, formerly" RELATED [OMIM:300337] +synonym: "Incontinentia pigmenti, type I" RELATED [] +synonym: "Incontinentia pigmenti, type I, formerly" RELATED [] synonym: "IPA" RELATED ABBREVIATION [GARD:0002992] synonym: "Ito" RELATED [GARD:0002992] synonym: "Ito hypomelanosis" EXACT [OMIM:300337] -synonym: "pigmentary mosaicism, Ito type" EXACT [Orphanet:435] +synonym: "pigmentary mosaicism, Ito type" EXACT [] xref: DOID:3156 {source="MONDO:equivalentTo"} xref: GARD:2992 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:435/attributed", source="Orphanet:435/ntbt", source="Orphanet:435"} @@ -227885,11 +227922,11 @@ replaced_by: MONDO:0000170 id: MONDO:0010304 name: Graves disease, susceptibility to, X-linked 1 subset: predisposition -synonym: "Graves disease, susceptibility to, X-linked" EXACT [OMIM:300351, OMIM:genemap2] +synonym: "Graves disease, susceptibility to, X-linked" EXACT [] synonym: "Graves disease, susceptibility to, X-linked 1" EXACT [OMIM:300351] -synonym: "Graves disease, susceptibility to, X-linked 2" RELATED [OMIM:300351] -synonym: "Graves disease, susceptibility to, X-linked type 1" EXACT [MONDORULE:1, OMIM:300351] -synonym: "Grdx1" RELATED [OMIM:300351] +synonym: "Graves disease, susceptibility to, X-linked 2" RELATED [] +synonym: "Graves disease, susceptibility to, X-linked type 1" EXACT [MONDORULE:1] +synonym: "Grdx1" RELATED [] xref: MEDGEN:395552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300351 {source="MONDO:equivalentTo"} xref: UMLS:C2678151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:395552"} @@ -227910,26 +227947,26 @@ subset: ordo_disorder {source="Orphanet:52503"} subset: orphanet_rare {source="Orphanet:52503"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CCDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300352] -synonym: "cerebral creatine deficiency syndrome 1" EXACT [DOID:0050800, MONDO:Lexical, OMIM:300352] -synonym: "cerebral creatine deficiency syndrome 1, X-linked recessive" EXACT [OMIM:300352, OMIM:genemap2] -synonym: "cerebral creatine deficiency syndrome type 1" EXACT [MONDORULE:1, OMIM:300352] -synonym: "creatine deficiency syndrome, X-linked" RELATED [OMIM:300352] +synonym: "CCDS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "cerebral creatine deficiency syndrome 1" EXACT [DOID:0050800, MONDO:Lexical, NCIT:C125665, OMIM:300352] +synonym: "cerebral creatine deficiency syndrome 1, X-linked recessive" EXACT [] +synonym: "cerebral creatine deficiency syndrome type 1" EXACT [MONDORULE:1] +synonym: "creatine deficiency syndrome, X-linked" RELATED [] synonym: "creatine deficiency, X-linked" RELATED [GARD:0001608] -synonym: "creatine transporter defect" RELATED [OMIM:300352] -synonym: "creatine transporter deficiency" EXACT CLINGEN_LABEL [Orphanet:52503] +synonym: "creatine transporter defect" RELATED [] +synonym: "creatine transporter deficiency" EXACT CLINGEN_LABEL [DOID:0050800, Orphanet:52503] synonym: "intellectual disability, X-linked with seizures, short stature and midface hypoplasia" RELATED [GARD:0001608] -synonym: "intellectual disability, X-linked, with creatine Transport deficiency" RELATED [OMIM:300352] +synonym: "intellectual disability, X-linked, with creatine Transport deficiency" RELATED [] synonym: "intellectual disability, X-linked, with creatine transport deficiency" RELATED [GARD:0001608] -synonym: "intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia" RELATED [OMIM:300352] +synonym: "intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia" RELATED [] synonym: "mental retardation, X-linked with seizures, short stature and midface hypoplasia" RELATED DEPRECATED [GARD:0001608] -synonym: "mental retardation, X-linked, with creatine Transport deficiency" RELATED DEPRECATED [OMIM:300352] +synonym: "mental retardation, X-linked, with creatine Transport deficiency" RELATED DEPRECATED [] synonym: "mental retardation, X-linked, with creatine transport deficiency" RELATED DEPRECATED [GARD:0001608] -synonym: "mental retardation, X-linked, with seizures, short stature, and midface hypoplasia" RELATED DEPRECATED [OMIM:300352] +synonym: "mental retardation, X-linked, with seizures, short stature, and midface hypoplasia" RELATED DEPRECATED [] synonym: "SLC6A8 deficiency" EXACT [DOID:0050800, Orphanet:52503] synonym: "X-linked creatine deficiency" RELATED [GARD:0001608] synonym: "X-linked creatine deficiency syndrome" RELATED [GARD:0001608] -synonym: "X-linked creatine transporter deficiency" RELATED [Orphanet:52503] +synonym: "X-linked creatine transporter deficiency" RELATED [] xref: DOID:0050800 {source="MONDO:equivalentTo"} xref: GARD:1608 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:52503", source="Orphanet:52503/attributed", source="Orphanet:52503/ntbt"} @@ -227963,29 +228000,29 @@ subset: ordo_malformation_syndrome {source="Orphanet:85293"} subset: orphanet_rare {source="Orphanet:85293"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cabezas syndrome" EXACT [Orphanet:85293] -synonym: "Cabezas syndrome; syndromic X-linked intellectual disability 15" EXACT [DOID:0060822] +synonym: "Cabezas syndrome" EXACT [OMIM:300354, Orphanet:85293] +synonym: "Cabezas syndrome; syndromic X-linked intellectual disability 15" EXACT [] synonym: "Cabezas syndrome; syndromic X-linked mental retardation 15" EXACT DEPRECATED [DOID:0060822] synonym: "Cabezas type of X-linked syndromic intellectual disability" RELATED [GARD:0013244] synonym: "Cul4B-related X-linked intellectual disability" RELATED [GARD:0013244] -synonym: "intellectual disability, X-linked, syndromic 15" RELATED [GARD:0013244, OMIM:300354] -synonym: "intellectual disability, X-linked, syndromic 15 (Cabezas type)" EXACT [DOID:0060822] -synonym: "intellectual disability, X-linked, syndromic, Cabezas type" RELATED [MONDO:Lexical, OMIM:300354] -synonym: "intellectual disability, X-linked, with short stature" EXACT [OMIM:300354] -synonym: "intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait" RELATED [OMIM:300354] -synonym: "mental retardation, X-linked, syndromic 15" RELATED DEPRECATED [OMIM:300354] +synonym: "intellectual disability, X-linked, syndromic 15" RELATED [GARD:0013244] +synonym: "intellectual disability, X-linked, syndromic 15 (Cabezas type)" EXACT [] +synonym: "intellectual disability, X-linked, syndromic, Cabezas type" RELATED [MONDO:Lexical] +synonym: "intellectual disability, X-linked, with short stature" EXACT [] +synonym: "intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait" RELATED [] +synonym: "mental retardation, X-linked, syndromic 15" RELATED DEPRECATED [] synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type)" EXACT DEPRECATED [DOID:0060822] -synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive" EXACT [OMIM:300354, OMIM:genemap2] -synonym: "mental retardation, X-linked, syndromic, Cabezas type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300354] +synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive" EXACT [] +synonym: "mental retardation, X-linked, syndromic, Cabezas type" RELATED DEPRECATED [MONDO:Lexical] synonym: "mental retardation, X-linked, with short stature" EXACT DEPRECATED [OMIM:300354] -synonym: "mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait" RELATED DEPRECATED [OMIM:300354] +synonym: "mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait" RELATED DEPRECATED [] synonym: "MRSS" EXACT ABBREVIATION [DOID:0060822] synonym: "MRXS15" EXACT ABBREVIATION [DOID:0060822] synonym: "MRXSC" EXACT ABBREVIATION [DOID:0060822, MONDO:Lexical, OMIM:300354] -synonym: "syndromic X-linked intellectual disability Cabezas type" EXACT [MONDO:0000826] -synonym: "X-linked intellectual disability with short stature" EXACT [DOID:0060822] -synonym: "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait" EXACT [DOID:0060822] -synonym: "X-linked intellectual disability, Cabezas type" EXACT CLINGEN_LABEL [] +synonym: "syndromic X-linked intellectual disability Cabezas type" EXACT [DOID:0060822, MONDO:0000826] +synonym: "X-linked intellectual disability with short stature" EXACT [] +synonym: "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait" EXACT [] +synonym: "X-linked intellectual disability, Cabezas type" EXACT CLINGEN_LABEL [Orphanet:85293] synonym: "X-linked mental retardation with short stature" EXACT DEPRECATED [DOID:0060822] synonym: "X-linked mental retardation with short stature, hypogonadism, and abnormal gait" EXACT DEPRECATED [DOID:0060822] xref: DOID:0060822 {source="MONDO:equivalentTo"} @@ -228010,10 +228047,10 @@ name: intellectual disability, X-linked 73 subset: gard_rare {source="GARD:22673", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 73" EXACT [MONDO:Lexical, OMIM:300355] -synonym: "mental retardation, X-linked 73" RELATED DEPRECATED [MONDO:Lexical, OMIM:300355] -synonym: "mental retardation, X-linked 73, X-linked recessive" EXACT [OMIM:300355, OMIM:genemap2] -synonym: "MRX73" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300355] +synonym: "intellectual disability, X-linked 73" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 73" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 73, X-linked recessive" EXACT [] +synonym: "MRX73" EXACT ABBREVIATION [DOID:0112017, MONDO:Lexical] xref: DOID:0112017 {source="MONDO:equivalentTo"} xref: GARD:22673 {source="MONDO:GARD"} xref: MEDGEN:335293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -228032,10 +228069,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "thrombocytopenia, X-linked, with or without dyserythropoietic anemia" EXACT [MONDO:Lexical, OMIM:300367] -synonym: "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive" EXACT [OMIM:300367, OMIM:genemap2] +synonym: "thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive" EXACT [] synonym: "X-linked thrombocytopenia, with or without dyserythropoietic Anaemia" EXACT OMO:0003005 [] synonym: "X-linked thrombocytopenia, with or without dyserythropoietic Anemia" EXACT [NCIT:C136653] -synonym: "XLTDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300367] +synonym: "XLTDA" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:763703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C136653 {source="MONDO:equivalentTo"} xref: OMIM:300367 {source="MONDO:equivalentTo"} @@ -228052,9 +228089,9 @@ name: intellectual disability, X-linked 42 subset: gard_rare {source="GARD:22674", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 42" EXACT [MONDO:Lexical, OMIM:300372] -synonym: "mental retardation, X-linked 42" RELATED DEPRECATED [MONDO:Lexical, OMIM:300372] -synonym: "MRX42" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300372] +synonym: "intellectual disability, X-linked 42" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 42" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRX42" EXACT ABBREVIATION [DOID:0112057, MONDO:Lexical] xref: DOID:0112057 {source="MONDO:equivalentTo"} xref: GARD:22674 {source="MONDO:GARD"} xref: MEDGEN:337321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -228075,12 +228112,12 @@ subset: orphanet_rare {source="Orphanet:2780"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hyperostosis generalisata with striations" EXACT [DOID:0060886, OMIM:300373, Orphanet:2780] -synonym: "OSCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300373] +synonym: "OSCS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "osteopathia striata - cranial sclerosis" RELATED [GARD:0004148] synonym: "osteopathia striata cranial sclerosis" RELATED [GARD:0004148] -synonym: "osteopathia striata with cranial sclerosis" EXACT [MONDO:Lexical, OMIM:300373] -synonym: "Osteopathia striata with cranial sclerosis, X-linked dominant" EXACT [OMIM:300373, OMIM:genemap2] -synonym: "osteopathia striata-cranial sclerosis syndrome" RELATED [Orphanet:2780] +synonym: "osteopathia striata with cranial sclerosis" EXACT [DOID:0060886, MONDO:Lexical, OMIM:300373] +synonym: "Osteopathia striata with cranial sclerosis, X-linked dominant" EXACT [] +synonym: "osteopathia striata-cranial sclerosis syndrome" RELATED [] synonym: "Robinow-Unger syndrome" EXACT [DOID:0060886, Orphanet:2780] xref: DOID:0060886 {source="MONDO:equivalentTo"} xref: GARD:4148 {source="MONDO:GARD"} @@ -228108,15 +228145,15 @@ subset: orphanet_rare {source="Orphanet:98895"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Becker dystrophinopathy" EXACT [Orphanet:98895] -synonym: "Becker muscular dystrophy" EXACT [OMIM:300376] -synonym: "Becker muscular dystrophy, X-linked recessive" EXACT [OMIM:300376, OMIM:genemap2] +synonym: "Becker muscular dystrophy" EXACT [DOID:9883, icd11.foundation:690532643, OMIM:300376, Orphanet:98895] +synonym: "Becker muscular dystrophy, X-linked recessive" EXACT [] synonym: "Becker's muscular dystrophy" RELATED [GARD:0005900] synonym: "benign congenital myopathy" EXACT [DOID:9883] synonym: "benign pseudohypertrophic muscular dystrophy" EXACT [DOID:9883] synonym: "BMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300376, Orphanet:98895] synonym: "muscular dystrophy pseudohypertrophic progressive, Becker type" RELATED [GARD:0005900] -synonym: "muscular dystrophy, Becker type" RELATED [GARD:0005900, MONDO:Lexical, OMIM:300376] -synonym: "muscular dystrophy, pseudohypertrophic progressive, Becker type" RELATED [OMIM:300376] +synonym: "muscular dystrophy, Becker type" RELATED [GARD:0005900, MONDO:Lexical] +synonym: "muscular dystrophy, pseudohypertrophic progressive, Becker type" RELATED [] xref: DOID:9883 {source="MONDO:equivalentTo"} xref: GARD:5900 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:98895", source="Orphanet:98895/ntbt", source="Orphanet:98895/inclusion"} @@ -228142,9 +228179,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5900/becker- [Term] id: MONDO:0010312 name: radial ray deficiency, X-linked -synonym: "radial ray deficiency" EXACT [OMIM:300378, OMIM:genemap2] +synonym: "radial ray deficiency" EXACT [] synonym: "radial ray deficiency, X-linked" EXACT [OMIM:300378] -synonym: "Rrdx" RELATED [OMIM:300378] +synonym: "Rrdx" RELATED [] xref: MEDGEN:337012 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564523 {source="MONDO:equivalentTo"} xref: OMIM:300378 {source="MONDO:equivalentTo"} @@ -228161,14 +228198,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ACSL4 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ACSL4-related intellectual disability" RELATED [GARD:0005613] -synonym: "intellectual developmental disorder, X-linked 63, X-linked dominant" EXACT [OMIM:300387, OMIM:genemap2] -synonym: "intellectual disability, X-linked 63" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300387] -synonym: "intellectual disability, X-linked 68" RELATED [OMIM:300387] -synonym: "intellectual disability, X-linked type 63" EXACT [MONDORULE:2, OMIM:300387] -synonym: "mental retardation, X-linked 63" RELATED DEPRECATED [MONDO:Lexical, OMIM:300387] -synonym: "mental retardation, X-linked 68" RELATED DEPRECATED [OMIM:300387] -synonym: "mental retardation, X-linked type 63" EXACT DEPRECATED [MONDORULE:2, OMIM:300387] -synonym: "MRX63" RELATED DEPRECATED [MONDO:Lexical, OMIM:300387] +synonym: "intellectual developmental disorder, X-linked 63, X-linked dominant" EXACT [] +synonym: "intellectual disability, X-linked 63" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked 68" RELATED [] +synonym: "intellectual disability, X-linked type 63" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 63" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 68" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked type 63" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX63" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in ACSL4" EXACT [MONDO:design_pattern] xref: DOID:0112050 {source="MONDO:equivalentTo"} xref: GARD:5613 {source="MONDO:GARD"} @@ -228188,12 +228225,12 @@ name: polymicrogyria, bilateral perisylvian, X-linked subset: gard_rare {source="GARD:15256", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BPP" RELATED ABBREVIATION [OMIM:300388] +synonym: "BPP" RELATED ABBREVIATION [] synonym: "BPPX" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300388] -synonym: "perisylvian syndrome, congenital bilateral" RELATED [OMIM:300388] -synonym: "PMGX" RELATED ABBREVIATION [OMIM:300388] +synonym: "perisylvian syndrome, congenital bilateral" RELATED [] +synonym: "PMGX" RELATED ABBREVIATION [] synonym: "polymicrogyria, bilateral perisylvian, X-linked" EXACT [MONDO:Lexical, OMIM:300388] -synonym: "polymicrogyria, bilateral perisylvian, X-linked dominant" EXACT [OMIM:300388, OMIM:genemap2] +synonym: "polymicrogyria, bilateral perisylvian, X-linked dominant" EXACT [] xref: GARD:15256 {source="MONDO:GARD"} xref: OMIM:300388 {source="MONDO:equivalentTo"} xref: Orphanet:268940 {source="OMIM:300388"} @@ -228213,16 +228250,16 @@ subset: ordo_disorder {source="Orphanet:276"} subset: orphanet_rare {source="Orphanet:276"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "immunodeficiency 4" RELATED [OMIM:300400] -synonym: "SCID, X-linked" RELATED [OMIM:300400] -synonym: "SCID-X1" EXACT [DOID:0060013] -synonym: "SCIDX" RELATED ABBREVIATION [OMIM:300400] +synonym: "immunodeficiency 4" RELATED [] +synonym: "SCID, X-linked" RELATED [] +synonym: "SCID-X1" EXACT ABBREVIATION [DOID:0060013] +synonym: "SCIDX" RELATED ABBREVIATION [] synonym: "SCIDX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300400, Orphanet:276] synonym: "severe combined immunodeficiency T- B+ due to gamma chain deficiency" RELATED [GARD:0005618] synonym: "severe combined immunodeficiency T- B+, X-linked" RELATED [GARD:0005618] -synonym: "severe combined immunodeficiency, X-linked" RELATED [MONDO:Lexical, OMIM:300400] -synonym: "severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative" RELATED [OMIM:300400] -synonym: "severe combined immunodeficiency, X-linked, X-linked recessive" EXACT [OMIM:300400, OMIM:genemap2] +synonym: "severe combined immunodeficiency, X-linked" RELATED [MONDO:Lexical] +synonym: "severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative" RELATED [] +synonym: "severe combined immunodeficiency, X-linked, X-linked recessive" EXACT [] synonym: "T-B+ SCID due to gamma chain deficiency" EXACT [Orphanet:276] synonym: "T-B+ severe combined immunodeficiency due to gamma chain deficiency" EXACT CLINGEN_LABEL [Orphanet:276] synonym: "T-B+ severe combined immunodeficiency, X-linked" EXACT [Orphanet:276] @@ -228256,7 +228293,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010316 name: FG syndrome 3 synonym: "FG syndrome 3" EXACT [MONDO:Lexical, OMIM:300406] -synonym: "FGS3" RELATED ABBREVIATION [GARD:0009924, MONDO:Lexical, OMIM:300406] +synonym: "FGS3" RELATED ABBREVIATION [GARD:0009924, MONDO:Lexical] xref: MEDGEN:375687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300406 {source="GARD:0009924", source="MONDO:equivalentTo"} xref: Orphanet:323 {source="OMIM:300406"} @@ -228272,31 +228309,31 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ARX-related intellectual disability" RELATED [GARD:0005614] -synonym: "intellectual developmental disorder, X-linked 29, X-linked recessive" EXACT [OMIM:300419, OMIM:genemap2] -synonym: "intellectual disability, X-linked 29" RELATED [OMIM:300419] -synonym: "intellectual disability, X-linked 32" RELATED [OMIM:300419] -synonym: "intellectual disability, X-linked 33" RELATED [OMIM:300419] -synonym: "intellectual disability, X-linked 38" RELATED [OMIM:300419] -synonym: "intellectual disability, X-linked 43" RELATED [OMIM:300419] -synonym: "intellectual disability, X-linked 52" RELATED [MONDO:Lexical, OMIM:300504] -synonym: "intellectual disability, X-linked 54" RELATED [OMIM:300419] -synonym: "intellectual disability, X-linked 76" RELATED [OMIM:300419] -synonym: "intellectual disability, X-linked 87" RELATED [OMIM:300419] -synonym: "intellectual disability, X-linked, with or without seizures, ARX-related" RELATED [MONDO:Lexical, OMIM:300419] -synonym: "intellectual disability, X-linked, with or without seizures, arx-RELATED" RELATED [OMIM:300419] -synonym: "mental retardation, X-linked 29" RELATED DEPRECATED [OMIM:300419] -synonym: "mental retardation, X-linked 32" RELATED DEPRECATED [OMIM:300419] -synonym: "mental retardation, X-linked 33" RELATED DEPRECATED [OMIM:300419] -synonym: "mental retardation, X-linked 38" RELATED DEPRECATED [OMIM:300419] -synonym: "mental retardation, X-linked 43" RELATED DEPRECATED [OMIM:300419] -synonym: "mental retardation, X-linked 52" RELATED DEPRECATED [MONDO:Lexical, OMIM:300504] -synonym: "mental retardation, X-linked 54" RELATED DEPRECATED [OMIM:300419] -synonym: "mental retardation, X-linked 76" RELATED DEPRECATED [OMIM:300419] -synonym: "mental retardation, X-linked 87" RELATED DEPRECATED [OMIM:300419] -synonym: "mental retardation, X-linked, with or without seizures, arx-RELATED" RELATED DEPRECATED [OMIM:300419] -synonym: "mental retardation, X-linked, with or without seizures, arx-related" RELATED DEPRECATED [MONDO:Lexical, OMIM:300419] -synonym: "MRX52" RELATED DEPRECATED [MONDO:Lexical, OMIM:300504] -synonym: "MRXARX" RELATED DEPRECATED [MONDO:Lexical, OMIM:300419] +synonym: "intellectual developmental disorder, X-linked 29, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 29" RELATED [] +synonym: "intellectual disability, X-linked 32" RELATED [] +synonym: "intellectual disability, X-linked 33" RELATED [] +synonym: "intellectual disability, X-linked 38" RELATED [] +synonym: "intellectual disability, X-linked 43" RELATED [] +synonym: "intellectual disability, X-linked 52" RELATED [MONDO:Lexical] +synonym: "intellectual disability, X-linked 54" RELATED [] +synonym: "intellectual disability, X-linked 76" RELATED [] +synonym: "intellectual disability, X-linked 87" RELATED [] +synonym: "intellectual disability, X-linked, with or without seizures, ARX-related" RELATED [MONDO:Lexical] +synonym: "intellectual disability, X-linked, with or without seizures, arx-RELATED" RELATED [] +synonym: "mental retardation, X-linked 29" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 32" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 33" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 38" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 43" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 52" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 54" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 76" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 87" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, with or without seizures, arx-RELATED" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, with or without seizures, arx-related" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRX52" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRXARX" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0112021 {source="MONDO:equivalentTo"} xref: GARD:5614 {source="MONDO:GARD"} xref: MEDGEN:208681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -228319,11 +228356,11 @@ synonym: "cask FG syndrome" EXACT [MONDO:design_pattern] synonym: "FG syndrome 4" EXACT [GARD:0009925, MONDO:Lexical, OMIM:300422] synonym: "FG syndrome caused by mutation in CASK" EXACT [] synonym: "FG syndrome caused by mutation in cask" EXACT [MONDO:design_pattern] -synonym: "FG syndrome type 4" EXACT [MONDORULE:1, OMIM:300422] -synonym: "FGS4" RELATED ABBREVIATION [GARD:0009925, MONDO:Lexical, OMIM:300422] -synonym: "intellectual disability, X-linked, with or without Nystagmus" RELATED [OMIM:300422] -synonym: "mental retardation, with or without nystagmus" EXACT [OMIM:300422, OMIM:genemap2] -synonym: "mental retardation, X-linked, with or without Nystagmus" RELATED DEPRECATED [OMIM:300422] +synonym: "FG syndrome type 4" EXACT [MONDORULE:1] +synonym: "FGS4" RELATED ABBREVIATION [GARD:0009925, MONDO:Lexical] +synonym: "intellectual disability, X-linked, with or without Nystagmus" RELATED [] +synonym: "mental retardation, with or without nystagmus" EXACT [] +synonym: "mental retardation, X-linked, with or without Nystagmus" RELATED DEPRECATED [] synonym: "X-linked intellectual disability with or without nystagmus" RELATED [GARD:0009925] xref: MEDGEN:336965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300422 {source="GARD:0009925", source="MONDO:equivalentTo"} @@ -228346,15 +228383,15 @@ subset: ordo_disorder {source="Orphanet:93952"} subset: orphanet_rare {source="Orphanet:93952"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive" EXACT [OMIM:300423, OMIM:genemap2] -synonym: "intellectual disability, X-linked, syndromic, Hedera type" EXACT [DOID:0060806, MONDO:Lexical, OMIM:300423] -synonym: "intellectual disability, X-linked, with epilepsy" RELATED [OMIM:300423] +synonym: "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked, syndromic, Hedera type" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked, with epilepsy" RELATED [] synonym: "mental retardation, X-linked, syndromic, Hedera type" EXACT DEPRECATED [DOID:0060806, MONDO:Lexical, OMIM:300423] -synonym: "mental retardation, X-linked, with epilepsy" RELATED DEPRECATED [OMIM:300423] +synonym: "mental retardation, X-linked, with epilepsy" RELATED DEPRECATED [] synonym: "MRXE" EXACT ABBREVIATION [DOID:0060806] synonym: "MRXSH" EXACT ABBREVIATION [DOID:0060806, MONDO:Lexical, OMIM:300423, Orphanet:93952] -synonym: "X-linked intellectual disability with epilepsy" EXACT [DOID:0060806] -synonym: "X-linked intellectual disability, Hedera type" RELATED [Orphanet:93952] +synonym: "X-linked intellectual disability with epilepsy" EXACT [] +synonym: "X-linked intellectual disability, Hedera type" RELATED [] synonym: "X-linked mental retardation with epilepsy" EXACT DEPRECATED [DOID:0060806] xref: DOID:0060806 {source="MONDO:equivalentTo"} xref: GARD:16834 {source="MONDO:GARD"} @@ -228379,10 +228416,10 @@ subset: gard_rare {source="GARD:10391", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "OFD1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 23" EXACT [MONDO:Lexical, OMIM:300424] -synonym: "retinitis pigmentosa 23, X-linked recessive" EXACT [OMIM:300424, OMIM:genemap2] +synonym: "retinitis pigmentosa 23" EXACT [DOID:0110412, MONDO:Lexical, OMIM:300424] +synonym: "retinitis pigmentosa 23, X-linked recessive" EXACT [] synonym: "retinitis pigmentosa caused by mutation in OFD1" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 23" EXACT [DOID:0110412, MONDORULE:2, OMIM:300424] +synonym: "retinitis pigmentosa type 23" EXACT [MONDORULE:2] synonym: "RP 23" RELATED [GARD:0010391] synonym: "RP23" EXACT ABBREVIATION [DOID:0110412, MONDO:Lexical, OMIM:300424] xref: DOID:0110412 {source="MONDO:equivalentTo"} @@ -228403,11 +228440,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10391/retini id: MONDO:0010321 name: autism, susceptibility to, X-linked 1 subset: predisposition -synonym: "autism susceptibility, X-linked 1" EXACT [OMIM:300425, OMIM:genemap2] +synonym: "autism susceptibility, X-linked 1" EXACT [] synonym: "autism, susceptibility to, X-linked 1" EXACT [MONDO:Lexical, OMIM:300425] -synonym: "autism, susceptibility to, X-linked type 1" EXACT [MONDORULE:1, OMIM:300425] -synonym: "AUTSX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300425] -synonym: "susceptibility to X-linked autism 1" RELATED [OMIM:300425] +synonym: "autism, susceptibility to, X-linked type 1" EXACT [MONDORULE:1] +synonym: "AUTSX1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to X-linked autism 1" RELATED [] xref: MEDGEN:335205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300425 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:300425"} @@ -228426,9 +228463,9 @@ name: intellectual disability, X-linked 2 subset: gard_rare {source="GARD:22675", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 2" EXACT [MONDO:Lexical, OMIM:300428] -synonym: "mental retardation, X-linked 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:300428] -synonym: "MRX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300428] +synonym: "intellectual disability, X-linked 2" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 2" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRX2" EXACT ABBREVIATION [DOID:0112016, MONDO:Lexical] xref: DOID:0112016 {source="MONDO:equivalentTo"} xref: GARD:22675 {source="MONDO:GARD"} xref: MEDGEN:162922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -228447,8 +228484,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1193"} subset: orphanet_rare {source="Orphanet:1193"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Atkin syndrome" RELATED [OMIM:300431] -synonym: "Atkin-Flaitz syndrome" EXACT [OMIM:300431] +synonym: "Atkin syndrome" RELATED [] +synonym: "Atkin-Flaitz syndrome" EXACT [OMIM:300431, Orphanet:1193] synonym: "X-linked intellectual disability, Atkin type" EXACT [Orphanet:1193] xref: GARD:3537 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1193/attributed", source="Orphanet:1193/ntbt", source="Orphanet:1193"} @@ -228467,10 +228504,10 @@ name: intellectual disability, X-linked 81 subset: gard_rare {source="GARD:22676", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 81" EXACT [MONDO:Lexical, OMIM:300433] -synonym: "mental retardation, X-linked 81" RELATED DEPRECATED [MONDO:Lexical, OMIM:300433] -synonym: "mental retardation, X-linked 81, X-linked recessive" EXACT [OMIM:300433, OMIM:genemap2] -synonym: "MRX81" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300433] +synonym: "intellectual disability, X-linked 81" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 81" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 81, X-linked recessive" EXACT [] +synonym: "MRX81" EXACT ABBREVIATION [DOID:0112033, MONDO:Lexical] xref: DOID:0112033 {source="MONDO:equivalentTo"} xref: GARD:22676 {source="MONDO:GARD"} xref: MEDGEN:335203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -228490,16 +228527,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:85288"} subset: orphanet_rare {source="Orphanet:85288"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type" EXACT [OMIM:300434, OMIM:genemap2] +synonym: "intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type" EXACT [] synonym: "intellectual disability, Stocco dos Santos type" RELATED [GARD:0001133] -synonym: "intellectual disability, X-linked, Stocco Dos Santos type" RELATED [OMIM:300434] +synonym: "intellectual disability, X-linked, Stocco Dos Santos type" RELATED [] synonym: "mental retardation, Stocco dos Santos type" RELATED DEPRECATED [GARD:0001133] -synonym: "mental retardation, X-linked, Stocco Dos Santos type" RELATED DEPRECATED [OMIM:300434] -synonym: "SDSX" RELATED DEPRECATED [OMIM:300434] -synonym: "Sdsx" RELATED [OMIM:300434] +synonym: "mental retardation, X-linked, Stocco Dos Santos type" RELATED DEPRECATED [] +synonym: "SDSX" RELATED DEPRECATED [] +synonym: "Sdsx" RELATED [] synonym: "Stocco dos Santos syndrome" RELATED [GARD:0001133] -synonym: "Stocco DOS Santos X-linked intellectual disability syndrome" RELATED [OMIM:300434] -synonym: "Stocco DOS Santos X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:300434] +synonym: "Stocco DOS Santos X-linked intellectual disability syndrome" RELATED [] +synonym: "Stocco DOS Santos X-linked mental retardation syndrome" RELATED DEPRECATED [] xref: DOID:0112126 {source="MONDO:equivalentTo"} xref: GARD:1133 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85288", source="Orphanet:85288/attributed", source="Orphanet:85288/ntbt"} @@ -228523,12 +228560,12 @@ subset: gard_rare {source="GARD:22677", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARHGEF6 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, X-linked 46" EXACT [MONDO:Lexical, OMIM:300436] -synonym: "intellectual disability, X-linked type 46" EXACT [MONDORULE:2, OMIM:300436] -synonym: "mental retardation, X-linked 46" RELATED DEPRECATED [MONDO:Lexical, OMIM:300436] -synonym: "mental retardation, X-linked 46, X-linked recessive" EXACT [OMIM:300436, OMIM:genemap2] -synonym: "mental retardation, X-linked type 46" EXACT DEPRECATED [MONDORULE:2, OMIM:300436] -synonym: "MRX46" RELATED DEPRECATED [MONDO:Lexical, OMIM:300436] +synonym: "intellectual disability, X-linked 46" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 46" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 46" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 46, X-linked recessive" EXACT [] +synonym: "mental retardation, X-linked type 46" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX46" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6" EXACT [MONDO:design_pattern] xref: DOID:0112055 {source="MONDO:equivalentTo"} xref: GARD:22677 {source="MONDO:GARD"} @@ -228556,31 +228593,31 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "17 beta-hydroxysteroid dehydrogenase type 10 deficiency" RELATED [GARD:0010716] synonym: "17-beta-hydroxysteroid dehydrogenase 10 deficiency" EXACT [OMIM:300438] -synonym: "17-beta-hydroxysteroid dehydrogenase X deficiency" EXACT [OMIM:300438] +synonym: "17-beta-hydroxysteroid dehydrogenase X deficiency" EXACT [] synonym: "2-methyl-3-hydroxybutyric aciduria" EXACT [Orphanet:391417] synonym: "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency" EXACT [OMIM:300438, Orphanet:391417] synonym: "2M3HBA" RELATED ABBREVIATION [GARD:0010716] synonym: "3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency" RELATED [GARD:0010716] synonym: "3-hydroxyacyl-CoA dehydrogenase 2 deficiency" EXACT [OMIM:300438] synonym: "3H2MBD deficiency" RELATED [GARD:0010716] -synonym: "chorioathetosis with mental retardation and abnormal behavior" EXACT DEPRECATED [OMIM:300220] +synonym: "chorioathetosis with mental retardation and abnormal behavior" EXACT DEPRECATED [] synonym: "chorioathetosis with mental retardation and abnormal behaviour" EXACT OMO:0003005 [] -synonym: "HSD10 deficiency" EXACT [OMIM:300438, Orphanet:391417] -synonym: "HSD10 deficiency, atypical type" NARROW [DOID:0060810, Orphanet:85295] +synonym: "HSD10 deficiency" EXACT [Orphanet:391417] +synonym: "HSD10 deficiency, atypical type" NARROW [] synonym: "HSD10 mitochondrial disease" EXACT CLINGEN_LABEL [OMIM:300438] -synonym: "HSD10 mitochondrial disease, X-linked dominant" EXACT [OMIM:300438, OMIM:genemap2] +synonym: "HSD10 mitochondrial disease, X-linked dominant" EXACT [] synonym: "HSD10MD" EXACT ABBREVIATION [OMIM:300438] synonym: "HSD17B10 deficiency" EXACT [OMIM:300438] synonym: "hydroxyacyl-CoA dehydrogenase II deficiency" RELATED [GARD:0010716] -synonym: "mental retardation with chorioathetosis and abnormal behavior" EXACT DEPRECATED [OMIM:300220] +synonym: "mental retardation with chorioathetosis and abnormal behavior" EXACT DEPRECATED [] synonym: "mental retardation with chorioathetosis and abnormal behaviour" EXACT OMO:0003005 [] synonym: "mental retardation, X-linked syndromic 10" EXACT DEPRECATED [DOID:0060810] -synonym: "mental retardation, X-linked, syndromic 10" EXACT DEPRECATED [MONDO:Lexical, OMIM:300220] -synonym: "mental retardation, X-linked, syndromic type 10" EXACT DEPRECATED [MONDORULE:2, OMIM:300220] +synonym: "mental retardation, X-linked, syndromic 10" EXACT DEPRECATED [MONDO:Lexical, OMIM:300438] +synonym: "mental retardation, X-linked, syndromic type 10" EXACT DEPRECATED [MONDORULE:2] synonym: "MHBD deficiency" EXACT [OMIM:300438, Orphanet:391417] -synonym: "MRXS10" EXACT DEPRECATED [DOID:0060810, MONDO:Lexical, OMIM:300220] -synonym: "syndromic X-linked intellectual disability type 10" NARROW [MONDO:0010272, Orphanet:85295] -synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" NARROW [DOID:0060810, Orphanet:85295] +synonym: "MRXS10" EXACT DEPRECATED [DOID:0060810, MONDO:Lexical] +synonym: "syndromic X-linked intellectual disability type 10" NARROW [MONDO:0010272] +synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" NARROW [] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome" NARROW OMO:0003005 [] xref: DOID:0060810 {source="MONDO:equivalentTo"} xref: GARD:10716 {source="MONDO:GARD"} @@ -228618,13 +228655,13 @@ subset: orphanet_rare {source="Orphanet:231401"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acquired haemoglobin H disease" EXACT OMO:0003005 [] -synonym: "acquired HbH disease" EXACT [Orphanet:231401] -synonym: "acquired hemoglobin H disease" EXACT [Orphanet:231401] -synonym: "ALPHA-thalassemia myelodysplasia syndrome" RELATED [MONDO:Lexical, OMIM:300448] -synonym: "alpha-thalassemia myelodysplasia syndrome, somatic" EXACT [OMIM:300448, OMIM:genemap2] -synonym: "ATMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300448, Orphanet:231401] +synonym: "acquired HbH disease" EXACT [DOID:0112125, Orphanet:231401] +synonym: "acquired hemoglobin H disease" EXACT [DOID:0112125, Orphanet:231401] +synonym: "ALPHA-thalassemia myelodysplasia syndrome" RELATED [MONDO:Lexical] +synonym: "alpha-thalassemia myelodysplasia syndrome, somatic" EXACT [] +synonym: "ATMDS" EXACT ABBREVIATION [DOID:0112125, MONDO:Lexical, OMIM:300448, Orphanet:231401] synonym: "Haemoglobin H disease, acquired" RELATED OMO:0003005 [] -synonym: "Hemoglobin H disease, acquired" RELATED [OMIM:300448] +synonym: "Hemoglobin H disease, acquired" RELATED [] xref: DOID:0112125 {source="MONDO:equivalentTo"} xref: GARD:17167 {source="MONDO:GARD"} xref: ICD10CM:D56.0 {source="MONDO:relatedTo", source="Orphanet:231401", source="Orphanet:231401/attributed", source="Orphanet:231401/ntbt"} @@ -228648,10 +228685,10 @@ name: intellectual disability, X-linked 77 subset: gard_rare {source="GARD:22678", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 77" EXACT [MONDO:Lexical, OMIM:300454] -synonym: "mental retardation, X-linked 77" RELATED DEPRECATED [MONDO:Lexical, OMIM:300454] -synonym: "mental retardation, X-linked 77, X-linked recessive" EXACT [OMIM:300454, OMIM:genemap2] -synonym: "MRX77" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300454] +synonym: "intellectual disability, X-linked 77" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 77" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 77, X-linked recessive" EXACT [] +synonym: "MRX77" EXACT ABBREVIATION [DOID:0112039, MONDO:Lexical] xref: DOID:0112039 {source="MONDO:equivalentTo"} xref: GARD:22678 {source="MONDO:GARD"} xref: MEDGEN:335199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -228667,7 +228704,7 @@ name: obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome def: "OBSOLETE. Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss." [Orphanet:247522] comment: Reason: out of scope. Requested by ClinGen retinal experts to obsolete this term. subset: ordo_disorder {source="Orphanet:247522"} -synonym: "retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness" RELATED [OMIM:300455] +synonym: "retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness" RELATED [] xref: DOID:0112124 {source="MONDO:obsoleteEquivalent"} xref: MESH:C567595 {source="MONDO:obsoleteEquivalent"} xref: OMIM:300455 {source="Orphanet:247522", source="MONDO:obsoleteEquivalent", source="Orphanet:247522/e"} @@ -228680,9 +228717,9 @@ is_obsolete: true id: MONDO:0010331 name: coronary heart disease, susceptibility to, 3 subset: predisposition -synonym: "Chds3" RELATED [OMIM:300464] +synonym: "Chds3" RELATED [] synonym: "coronary heart disease, susceptibility to, 3" EXACT [OMIM:300464] -synonym: "coronary heart disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:300464] +synonym: "coronary heart disease, susceptibility to, type 3" EXACT [MONDORULE:1] xref: MEDGEN:337240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300464 {source="MONDO:equivalentTo"} xref: UMLS:C1845454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:337240"} @@ -228703,9 +228740,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:85280"} subset: orphanet_rare {source="Orphanet:85280"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cubitus valgus with intellectual disability and unusual facies" RELATED [OMIM:300471] -synonym: "cubitus valgus with mental retardation and unusual facies" RELATED DEPRECATED [OMIM:300471] -synonym: "Cubitus valgus with mental retardation and unusual facies, X-linked recessive" EXACT [OMIM:300471, OMIM:genemap2] +synonym: "cubitus valgus with intellectual disability and unusual facies" RELATED [] +synonym: "cubitus valgus with mental retardation and unusual facies" RELATED DEPRECATED [] +synonym: "Cubitus valgus with mental retardation and unusual facies, X-linked recessive" EXACT [] xref: GARD:16745 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85280", source="Orphanet:85280/attributed", source="Orphanet:85280/ntbt"} xref: MEDGEN:1801270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -228731,13 +228768,13 @@ subset: orphanet_rare {source="Orphanet:52055"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome" RELATED [GARD:0012486] -synonym: "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive" EXACT [OMIM:300472, OMIM:genemap2] -synonym: "corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia" EXACT [DOID:0060816] -synonym: "corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia" RELATED [OMIM:300472] +synonym: "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive" EXACT [] +synonym: "corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia" EXACT [] +synonym: "corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia" RELATED [] synonym: "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia" EXACT DEPRECATED [DOID:0060816] -synonym: "corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia" RELATED DEPRECATED [OMIM:300472] +synonym: "corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia" RELATED DEPRECATED [] synonym: "Graham-Cox syndrome" EXACT [DOID:0060816, Orphanet:52055] -synonym: "intellectual disability, X-linked, syndromic 28" EXACT [DOID:0060816, OMIM:300472] +synonym: "intellectual disability, X-linked, syndromic 28" EXACT [] synonym: "mental retardation, X-linked, syndromic 28" EXACT DEPRECATED [DOID:0060816, OMIM:300472] synonym: "MRXS28" EXACT ABBREVIATION [DOID:0060816] xref: DOID:0060816 {source="MONDO:equivalentTo"} @@ -228770,10 +228807,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:369939"} subset: orphanet_rare {source="Orphanet:369939"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "contiguous ABCD1/Dxs1375E deletion syndrome" RELATED [OMIM:300475] -synonym: "DDCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300475] -synonym: "deafness, dystonia, and cerebral hypomyelination" RELATED [MONDO:Lexical, OMIM:300475] -synonym: "deafness, dystonia, and cerebral hypomyelination, X-linked recessive" EXACT [OMIM:300475, OMIM:genemap2] +synonym: "contiguous ABCD1/Dxs1375E deletion syndrome" RELATED [] +synonym: "DDCH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "deafness, dystonia, and cerebral hypomyelination" RELATED [MONDO:Lexical] +synonym: "deafness, dystonia, and cerebral hypomyelination, X-linked recessive" EXACT [] xref: DOID:0112123 {source="MONDO:equivalentTo"} xref: GARD:17592 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:369939", source="Orphanet:369939/attributed", source="Orphanet:369939/ntbt"} @@ -228798,11 +228835,11 @@ subset: gard_rare {source="GARD:10654", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cone-rod dystrophy X-linked 3" RELATED [GARD:0010654] -synonym: "cone-rod dystrophy, X-linked, 3" RELATED [MONDO:Lexical, OMIM:300476] -synonym: "cone-rod dystrophy, X-linked, 3, X-linked recessive" EXACT [OMIM:300476, OMIM:genemap2] -synonym: "cone-rod dystrophy, X-linked, type 3" EXACT [MONDORULE:1, OMIM:300476] +synonym: "cone-rod dystrophy, X-linked, 3" RELATED [MONDO:Lexical] +synonym: "cone-rod dystrophy, X-linked, 3, X-linked recessive" EXACT [] +synonym: "cone-rod dystrophy, X-linked, type 3" EXACT [MONDORULE:1] synonym: "CORDX3" EXACT ABBREVIATION [DOID:0111007, MONDO:Lexical, OMIM:300476] -synonym: "X-linked cone-rod dystrophy type 3" EXACT [DOID:0111007, MONDORULE:1] +synonym: "X-linked cone-rod dystrophy type 3" EXACT [MONDORULE:1] xref: DOID:0111007 {source="MONDO:equivalentTo"} xref: GARD:10654 {source="MONDO:GARD"} xref: MEDGEN:336932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -228829,21 +228866,21 @@ subset: ordo_malformation_syndrome {source="Orphanet:2755"} subset: orphanet_rare {source="Orphanet:2755"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Edwards syndrome" RELATED EXCLUDE [DOID:0060378] +synonym: "Edwards syndrome" RELATED EXCLUDE [] synonym: "OFD syndrome 8" RELATED [GARD:0004060] synonym: "OFD8" EXACT ABBREVIATION [DOID:0060378, MONDO:Lexical, OMIM:300484, Orphanet:2755] -synonym: "Ofds 8" RELATED [OMIM:300484] +synonym: "Ofds 8" RELATED [] synonym: "oral facial digital syndrome 8" RELATED [GARD:0004060] synonym: "oral facial digital syndrome type 8" RELATED [GARD:0004060] synonym: "oral-facial-digital syndrome type 8" EXACT [Orphanet:2755] -synonym: "oral-Facial-digital syndrome with hypoplastic Epiglottis" RELATED [OMIM:300484] +synonym: "oral-Facial-digital syndrome with hypoplastic Epiglottis" RELATED [] synonym: "oral-facial-digital syndrome, Edwards type" EXACT [Orphanet:2755] -synonym: "oral-Facial-digital syndrome, type 8" RELATED [OMIM:300484] +synonym: "oral-Facial-digital syndrome, type 8" RELATED [] synonym: "orofaciodigital syndrome 8" RELATED [GARD:0004060] -synonym: "orofaciodigital syndrome type 8" RELATED [Orphanet:2755] -synonym: "orofaciodigital syndrome type VIII" EXACT [DOID:0060378, MONDORULE:3] -synonym: "orofaciodigital syndrome VIII" EXACT [MONDO:Lexical, OMIM:300484] -synonym: "orofaciodigital syndrome VIII, X-linked recessive" EXACT [OMIM:300484, OMIM:genemap2] +synonym: "orofaciodigital syndrome type 8" RELATED [] +synonym: "orofaciodigital syndrome type VIII" EXACT [MONDORULE:3] +synonym: "orofaciodigital syndrome VIII" EXACT [DOID:0060378, MONDO:Lexical] +synonym: "orofaciodigital syndrome VIII, X-linked recessive" EXACT [] synonym: "orofaciodigital syndrome, Edwards type" EXACT [Orphanet:2755] xref: DOID:0060378 {source="MONDO:equivalentTo"} xref: GARD:4060 {source="MONDO:GARD"} @@ -228868,17 +228905,17 @@ subset: ordo_disorder {source="Orphanet:137831"} subset: orphanet_rare {source="Orphanet:137831"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive" EXACT [OMIM:300486, OMIM:genemap2] +synonym: "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive" EXACT [] synonym: "intellectual disability X-linked 60 (formerly)" RELATED [GARD:0009947] synonym: "intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance" RELATED [GARD:0009947] -synonym: "intellectual disability, X-linked 60" RELATED [OMIM:300486] -synonym: "intellectual disability, X-linked 60, formerly" RELATED [OMIM:300486] -synonym: "intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance" RELATED [GARD:0013093, OMIM:300486] +synonym: "intellectual disability, X-linked 60" RELATED [] +synonym: "intellectual disability, X-linked 60, formerly" RELATED [] +synonym: "intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance" RELATED [GARD:0013093] synonym: "mental retardation X-linked 60 (formerly)" RELATED DEPRECATED [GARD:0009947] synonym: "mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance" RELATED DEPRECATED [GARD:0009947] -synonym: "mental retardation, X-linked 60" RELATED DEPRECATED [OMIM:300486] -synonym: "mental retardation, X-linked 60, formerly" RELATED DEPRECATED [OMIM:300486] -synonym: "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance" RELATED DEPRECATED [OMIM:300486] +synonym: "mental retardation, X-linked 60" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 60, formerly" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance" RELATED DEPRECATED [] synonym: "MRX60 (formerly)" RELATED [GARD:0009947] synonym: "Oligophrenin-1 syndrome" EXACT [Orphanet:137831] synonym: "OPHN1 deficiency" RELATED [GARD:0013093] @@ -228887,7 +228924,7 @@ synonym: "OPHN1 XLMR" RELATED [GARD:0013093] synonym: "OPHN1 XLMR, X-linked intellectual disability" RELATED [GARD:0013093] synonym: "OPHN1- related XLID" RELATED [GARD:0013093] synonym: "X-linked intellectual Deficit with cerebellar Hypoplasia" RELATED [GARD:0013093] -synonym: "X-linked intellectual disability-cerebellar hypoplasia syndrome" EXACT CLINGEN_LABEL [] +synonym: "X-linked intellectual disability-cerebellar hypoplasia syndrome" EXACT CLINGEN_LABEL [Orphanet:137831] xref: DOID:0080311 {source="MONDO:equivalentTo"} xref: GARD:9947 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:137831", source="Orphanet:137831/attributed", source="Orphanet:137831/ntbt"} @@ -228920,20 +228957,20 @@ subset: orphanet_rare {source="Orphanet:139557"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ATP7A spinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ATP7A-related distal motor neuropathy" EXACT [Orphanet:139557] -synonym: "DSMAX" EXACT ABBREVIATION [Orphanet:139557] -synonym: "Dsmax" RELATED [OMIM:300489] -synonym: "SMAX3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300489, Orphanet:139557] +synonym: "ATP7A-related distal motor neuropathy" EXACT [DOID:0111196, Orphanet:139557] +synonym: "DSMAX" EXACT ABBREVIATION [DOID:0111196, OMIM:300489, Orphanet:139557] +synonym: "Dsmax" RELATED [] +synonym: "SMAX3" EXACT ABBREVIATION [DOID:0111196, MONDO:Lexical, Orphanet:139557] synonym: "spinal muscular atrophy caused by mutation in ATP7A" EXACT [MONDO:design_pattern] -synonym: "spinal muscular atrophy, distal, X-linked 3" RELATED [MONDO:Lexical, OMIM:300489] -synonym: "spinal muscular atrophy, distal, X-linked 3, X-linked recessive" EXACT [OMIM:300489, OMIM:genemap2] -synonym: "spinal muscular atrophy, distal, X-linked recessive" RELATED [OMIM:300489] -synonym: "spinal muscular atrophy, distal, X-linked type 3" EXACT [MONDORULE:1, OMIM:300489] -synonym: "X-linked dHMN type 3" EXACT [Orphanet:139557] -synonym: "X-linked dHMN3" EXACT [Orphanet:139557] -synonym: "X-linked distal hereditary motor neuropathy type 3" EXACT [Orphanet:139557] -synonym: "X-linked dSMA type 3" EXACT [Orphanet:139557] -synonym: "X-linked dSMA3" EXACT [Orphanet:139557] +synonym: "spinal muscular atrophy, distal, X-linked 3" RELATED [MONDO:Lexical] +synonym: "spinal muscular atrophy, distal, X-linked 3, X-linked recessive" EXACT [] +synonym: "spinal muscular atrophy, distal, X-linked recessive" RELATED [] +synonym: "spinal muscular atrophy, distal, X-linked type 3" EXACT [MONDORULE:1] +synonym: "X-linked dHMN type 3" EXACT [] +synonym: "X-linked dHMN3" EXACT [DOID:0111196, Orphanet:139557] +synonym: "X-linked distal hereditary motor neuropathy type 3" EXACT [DOID:0111196, Orphanet:139557] +synonym: "X-linked dSMA type 3" EXACT [] +synonym: "X-linked dSMA3" EXACT [DOID:0111196, Orphanet:139557] xref: DOID:0111196 {source="MONDO:equivalentTo"} xref: GARD:16957 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:139557/attributed", source="Orphanet:139557/ntbt", source="Orphanet:139557"} @@ -228962,11 +228999,11 @@ subset: ordo_disorder {source="Orphanet:85294"} subset: orphanet_rare {source="Orphanet:85294"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders" RELATED [OMIM:300491] -synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant" EXACT [OMIM:300491, OMIM:genemap2] +synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders" RELATED [] +synonym: "epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant" EXACT [] synonym: "epilepsy, X-linked, with variable learning disabilities and behaviour disorders" RELATED OMO:0003005 [] synonym: "epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant" EXACT OMO:0003005 [] -synonym: "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT CLINGEN_LABEL [Orphanet:85294] +synonym: "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT CLINGEN_LABEL [DOID:0112122, Orphanet:85294] xref: DOID:0112122 {source="MONDO:equivalentTo"} xref: GARD:16748 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85294/attributed", source="Orphanet:85294/ntbt", source="Orphanet:85294"} @@ -228990,12 +229027,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010340 name: Asperger syndrome, X-linked, susceptibility to, 1 subset: predisposition -synonym: "Asperger syndrome susceptibility, X-linked 1, Isolated cases, X-linked" EXACT [OMIM:300494, OMIM:genemap2] -synonym: "ASPERGER syndrome, X-linked, susceptibility to, 1" RELATED [OMIM:300494] -synonym: "Asperger syndrome, X-linked, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:300494] -synonym: "Asperger syndrome, X-linked, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:300494] -synonym: "ASPGX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300494] -synonym: "susceptibility to X-linked asperger syndrome 1" RELATED [OMIM:300494] +synonym: "Asperger syndrome susceptibility, X-linked 1, Isolated cases, X-linked" EXACT [] +synonym: "ASPERGER syndrome, X-linked, susceptibility to, 1" RELATED [] +synonym: "Asperger syndrome, X-linked, susceptibility to, 1" EXACT [MONDO:Lexical] +synonym: "Asperger syndrome, X-linked, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "ASPGX1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to X-linked asperger syndrome 1" RELATED [] xref: OMIM:300425 {source="MONDO:includedEntryInOMIM"} xref: OMIM:300494 {source="MONDO:equivalentObsolete"} xref: Orphanet:1162 {source="OMIM:300494"} @@ -229012,14 +229049,14 @@ id: MONDO:0010341 name: autism, susceptibility to, X-linked 2 def: "A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations)." [MESH:D038901] subset: predisposition -synonym: "autism susceptibility, X-linked 2, isolated cases, X-linked" EXACT [OMIM:300495, OMIM:genemap2] +synonym: "autism susceptibility, X-linked 2, isolated cases, X-linked" EXACT [] synonym: "autism, susceptibility to, X-linked 2" EXACT [MONDO:Lexical, OMIM:300495] -synonym: "autism, susceptibility to, X-linked type 2" EXACT [MONDORULE:1, OMIM:300495] +synonym: "autism, susceptibility to, X-linked type 2" EXACT [MONDORULE:1] synonym: "AUTSX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300495] -synonym: "intellectual developmental disorder, X-linked, Isolated cases, X-linked" EXACT [OMIM:300495, OMIM:genemap2] -synonym: "intellectual disability, X-linked" RELATED [OMIM:300495] -synonym: "mental retardation, X-linked" RELATED DEPRECATED [OMIM:300495] -synonym: "susceptibility to X-linked autism 2" RELATED [OMIM:300495] +synonym: "intellectual developmental disorder, X-linked, Isolated cases, X-linked" EXACT [] +synonym: "intellectual disability, X-linked" RELATED [] +synonym: "mental retardation, X-linked" RELATED DEPRECATED [] +synonym: "susceptibility to X-linked autism 2" RELATED [] xref: MEDGEN:336964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D038901 {source="MONDO:equivalentTo"} xref: OMIM:300495 {source="MONDO:equivalentTo"} @@ -229037,11 +229074,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010342 name: autism, susceptibility to, X-linked 3 subset: predisposition -synonym: "autism susceptibility, X-linked 3" EXACT [OMIM:300496, OMIM:genemap2] +synonym: "autism susceptibility, X-linked 3" EXACT [] synonym: "autism, susceptibility to, X-linked 3" EXACT [MONDO:Lexical, OMIM:300496] -synonym: "autism, susceptibility to, X-linked type 3" EXACT [MONDORULE:1, OMIM:300496] -synonym: "AUTSX3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300496] -synonym: "susceptibility to X-linked autism 3" RELATED [OMIM:300496] +synonym: "autism, susceptibility to, X-linked type 3" EXACT [MONDORULE:1] +synonym: "AUTSX3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to X-linked autism 3" RELATED [] xref: MEDGEN:335161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300496 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:300496"} @@ -229058,12 +229095,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010343 name: Asperger syndrome, X-linked, susceptibility to, 2 subset: predisposition -synonym: "Asperger syndrome susceptibility, X-linked 2" EXACT [OMIM:300497, OMIM:genemap2] -synonym: "ASPERGER syndrome, X-linked, susceptibility to, 2" RELATED [OMIM:300497] -synonym: "Asperger syndrome, X-linked, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:300497] -synonym: "Asperger syndrome, X-linked, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:300497] -synonym: "ASPGX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300497] -synonym: "susceptibility to X-linked asperger syndrome 2" RELATED [OMIM:300497] +synonym: "Asperger syndrome susceptibility, X-linked 2" EXACT [] +synonym: "ASPERGER syndrome, X-linked, susceptibility to, 2" RELATED [] +synonym: "Asperger syndrome, X-linked, susceptibility to, 2" EXACT [MONDO:Lexical] +synonym: "Asperger syndrome, X-linked, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "ASPGX2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to X-linked asperger syndrome 2" RELATED [] xref: OMIM:300495 {source="MONDO:includedEntryInOMIM"} xref: OMIM:300497 {source="MONDO:equivalentObsolete"} xref: Orphanet:1162 {source="OMIM:300497"} @@ -229080,11 +229117,11 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="GARD:22679", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 45" EXACT [MONDO:Lexical, OMIM:300498] -synonym: "intellectual disability, X-linked type 45" EXACT [MONDORULE:2, OMIM:300498] -synonym: "mental retardation, X-linked 45" EXACT DEPRECATED [MONDO:Lexical, OMIM:300498, OMIM:genemap2] -synonym: "mental retardation, X-linked type 45" EXACT DEPRECATED [MONDORULE:2, OMIM:300498] -synonym: "MRX45" RELATED DEPRECATED [MONDO:Lexical, OMIM:300498] +synonym: "intellectual disability, X-linked 45" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 45" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 45" EXACT DEPRECATED [MONDO:Lexical, OMIM:300498] +synonym: "mental retardation, X-linked type 45" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX45" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZNF81" EXACT [MONDO:design_pattern] synonym: "ZNF81 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112028 {source="MONDO:equivalentTo"} @@ -229120,10 +229157,10 @@ name: intellectual disability, X-linked 84 subset: gard_rare {source="GARD:22680", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 84" EXACT [MONDO:Lexical, OMIM:300505] -synonym: "mental retardation, X-linked 84" RELATED DEPRECATED [MONDO:Lexical, OMIM:300505] -synonym: "mental retardation, X-linked 84, X-linked recessive" EXACT [OMIM:300505, OMIM:genemap2] -synonym: "MRX84" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300505] +synonym: "intellectual disability, X-linked 84" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 84" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 84, X-linked recessive" EXACT [] +synonym: "MRX84" EXACT ABBREVIATION [DOID:0112030, MONDO:Lexical] xref: DOID:0112030 {source="MONDO:equivalentTo"} xref: GARD:22680 {source="MONDO:GARD"} xref: MEDGEN:337203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -229155,12 +229192,12 @@ subset: gard_rare {source="GARD:18040", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BMP15 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ODG2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300510] -synonym: "ovarian dysgenesis 2" EXACT [MONDO:Lexical, OMIM:300510] -synonym: "ovarian dysgenesis type 2" EXACT [MONDORULE:1, OMIM:300510] -synonym: "ovarian dysgenesis, hypergonadotropic, X-linked" RELATED [OMIM:300510] -synonym: "ovarian failure, hypergonadotropic, due to ovarian dysgenesis" RELATED [OMIM:300510] -synonym: "premature ovarian failure 4" RELATED [OMIM:300510] +synonym: "ODG2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ovarian dysgenesis 2" EXACT [DOID:0080494, MONDO:Lexical, OMIM:300510] +synonym: "ovarian dysgenesis type 2" EXACT [MONDORULE:1] +synonym: "ovarian dysgenesis, hypergonadotropic, X-linked" RELATED [] +synonym: "ovarian failure, hypergonadotropic, due to ovarian dysgenesis" RELATED [] +synonym: "premature ovarian failure 4" RELATED [] synonym: "primary ovarian failure caused by mutation in BMP15" EXACT [MONDO:design_pattern] xref: DOID:0080494 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0080861 {source="MONDO:equivalentTo"} @@ -229184,10 +229221,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DIAPH2 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "POF2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300511] +synonym: "POF2A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "premature ovarian failure 2A" EXACT [MONDO:Lexical, OMIM:300511] -synonym: "premature ovarian failure 2A, X-linked dominant" EXACT [OMIM:300511, OMIM:genemap2] -synonym: "premature ovarian failure type 2A" EXACT [MONDORULE:4, OMIM:300511] +synonym: "premature ovarian failure 2A, X-linked dominant" EXACT [] +synonym: "premature ovarian failure type 2A" EXACT [MONDORULE:4] synonym: "primary ovarian failure caused by mutation in DIAPH2" EXACT [MONDO:design_pattern] xref: DOID:0080858 {source="MONDO:equivalentTo"} xref: MEDGEN:336902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -229210,17 +229247,17 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15257", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "FA2" EXACT ABBREVIATION [DOID:0111098] +synonym: "FA2" EXACT ABBREVIATION [] synonym: "FACB" EXACT ABBREVIATION [DOID:0111098, OMIM:300514] synonym: "FANCB" EXACT ABBREVIATION [DOID:0111098, MONDO:Lexical, OMIM:300514] synonym: "Fanconi anaemia complementation group type B" EXACT OMO:0003005 [] -synonym: "Fanconi anemia complementation group B" EXACT CLINGEN_LABEL [] -synonym: "Fanconi anemia complementation group type B" EXACT [DOID:0111098, MONDORULE:1] -synonym: "Fanconi anemia, complementation group B" RELATED [MONDO:Lexical, OMIM:300514] -synonym: "Fanconi anemia, complementation group B, X-linked recessive" EXACT [OMIM:300514, OMIM:genemap2] -synonym: "Fanconi Anemia, complementation group type B" EXACT [MONDORULE:1, OMIM:300514] +synonym: "Fanconi anemia complementation group B" EXACT CLINGEN_LABEL [DOID:0111098] +synonym: "Fanconi anemia complementation group type B" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group B" RELATED [MONDO:Lexical] +synonym: "Fanconi anemia, complementation group B, X-linked recessive" EXACT [] +synonym: "Fanconi Anemia, complementation group type B" EXACT [MONDORULE:1] synonym: "Fanconi pancytopenia type 2" EXACT [DOID:0111098] -synonym: "Fanconi pancytopenia, type 2" RELATED [OMIM:300514] +synonym: "Fanconi pancytopenia, type 2" RELATED [] xref: DOID:0111098 {source="MONDO:equivalentTo"} xref: GARD:15257 {source="MONDO:GARD"} xref: MEDGEN:336901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -229240,10 +229277,10 @@ name: intellectual disability, X-linked 82 subset: gard_rare {source="GARD:22681", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 82" EXACT [MONDO:Lexical, OMIM:300518] -synonym: "mental retardation, X-linked 82" RELATED DEPRECATED [MONDO:Lexical, OMIM:300518] -synonym: "mental retardation, X-linked 82, X-linked recessive" EXACT [OMIM:300518, OMIM:genemap2] -synonym: "MRX82" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300518] +synonym: "intellectual disability, X-linked 82" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 82" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 82, X-linked recessive" EXACT [] +synonym: "MRX82" EXACT ABBREVIATION [DOID:0112052, MONDO:Lexical] xref: DOID:0112052 {source="MONDO:equivalentTo"} xref: GARD:22681 {source="MONDO:GARD"} xref: MEDGEN:337201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -229265,17 +229302,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:85321"} subset: orphanet_rare {source="Orphanet:85321"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness-intellectual disability syndrome, Martin-Probst type" RELATED [Orphanet:85321] -synonym: "intellectual disability, X-linked, syndromic, MARTIN-Probst type" RELATED [MONDO:Lexical, OMIM:300519] -synonym: "intellectual disability, X-linked, syndromic, Martin-Probst type" EXACT [DOID:0060830] -synonym: "Martin-Probst deafness-intellectual disability syndrome" RELATED [OMIM:300519] -synonym: "Martin-Probst deafness-mental retardation syndrome" RELATED DEPRECATED [OMIM:300519] -synonym: "Martin-Probst syndrome" EXACT [DOID:0060830, Orphanet:85321] -synonym: "martin-probst syndrome, X-linked recessive" EXACT [OMIM:300519, OMIM:genemap2] -synonym: "mental retardation, X-linked, syndromic, MARTIN-Probst type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300519] -synonym: "mental retardation, X-linked, syndromic, Martin-Probst type" EXACT DEPRECATED [DOID:0060830] -synonym: "MRXSMP" RELATED DEPRECATED [MONDO:Lexical, OMIM:300519] -synonym: "X-linked deafness-intellectual disability syndrome syndrome" EXACT [Orphanet:85321] +synonym: "deafness-intellectual disability syndrome, Martin-Probst type" RELATED [] +synonym: "intellectual disability, X-linked, syndromic, MARTIN-Probst type" RELATED [MONDO:Lexical] +synonym: "intellectual disability, X-linked, syndromic, Martin-Probst type" EXACT [] +synonym: "Martin-Probst deafness-intellectual disability syndrome" RELATED [] +synonym: "Martin-Probst deafness-mental retardation syndrome" RELATED DEPRECATED [] +synonym: "Martin-Probst syndrome" EXACT [DOID:0060830, OMIM:300519, Orphanet:85321] +synonym: "martin-probst syndrome, X-linked recessive" EXACT [] +synonym: "mental retardation, X-linked, syndromic, MARTIN-Probst type" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked, syndromic, Martin-Probst type" EXACT DEPRECATED [DOID:0060830, OMIM:300519] +synonym: "MRXSMP" RELATED DEPRECATED [MONDO:Lexical] +synonym: "X-linked deafness-intellectual disability syndrome syndrome" EXACT [] xref: DOID:0060830 {source="MONDO:equivalentTo"} xref: GARD:16750 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85321", source="Orphanet:85321/attributed", source="Orphanet:85321/ntbt", source="DOID:0060830"} @@ -229301,23 +229338,23 @@ subset: ordo_disorder {source="Orphanet:59"} subset: orphanet_rare {source="Orphanet:59"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AHDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300523, Orphanet:59] -synonym: "ALLAN-Herndon syndrome" EXACT [DOID:0050631] -synonym: "Allan-Herndon syndrome" RELATED [OMIM:300523] -synonym: "ALLAN-Herndon-DUDLEY syndrome" RELATED [OMIM:300523] -synonym: "Allan-Herndon-Dudley syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300523] -synonym: "intellectual disability and muscular atrophy" RELATED [GARD:0005617, OMIM:300523] -synonym: "intellectual disability, X-linked, with hypotonia" RELATED [OMIM:300523] +synonym: "AHDS" EXACT ABBREVIATION [DOID:0050631, MONDO:Lexical, OMIM:300523, Orphanet:59] +synonym: "ALLAN-Herndon syndrome" EXACT [DOID:0050631, OMIM:300523] +synonym: "Allan-Herndon syndrome" RELATED [] +synonym: "ALLAN-Herndon-DUDLEY syndrome" RELATED [] +synonym: "Allan-Herndon-Dudley syndrome" EXACT CLINGEN_LABEL [DOID:0050631, icd11.foundation:56813604, MONDO:Lexical, NCIT:C118843, OMIM:300523, Orphanet:59] +synonym: "intellectual disability and muscular atrophy" RELATED [GARD:0005617] +synonym: "intellectual disability, X-linked, with hypotonia" RELATED [] synonym: "MCT8 deficiency" EXACT [Orphanet:59] synonym: "MCT8-specific thyroid hormone cell Membrane transporter deficiency" EXACT [NCIT:C118843] synonym: "MCT8-Specific Thyroid Hormone Cell Transporter Deficiency" EXACT [NORD:1415] -synonym: "mental retardation and muscular atrophy" RELATED DEPRECATED [OMIM:300523] -synonym: "mental retardation, X-linked, with hypotonia" RELATED DEPRECATED [OMIM:300523] -synonym: "monocarboxylate transporter 8 deficiency" EXACT [OMIM:300523, Orphanet:59] +synonym: "mental retardation and muscular atrophy" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, with hypotonia" RELATED DEPRECATED [] +synonym: "monocarboxylate transporter 8 deficiency" EXACT [NCIT:C118843, OMIM:300523, Orphanet:59] synonym: "monocarboxylate transporter-8 deficiency" RELATED [GARD:0005617] synonym: "T3 resisitence" RELATED [GARD:0005617] -synonym: "T3 resistance" RELATED [OMIM:300523] -synonym: "triiodothyronine resistance" RELATED [GARD:0005617, OMIM:300523] +synonym: "T3 resistance" RELATED [] +synonym: "triiodothyronine resistance" RELATED [GARD:0005617] synonym: "X-linked intellectual disability with hypotonia" RELATED [GARD:0005617] synonym: "X-linked intellectual disability-hypotonia syndrome" EXACT [Orphanet:59] xref: DOID:0050631 {source="MONDO:equivalentTo"} @@ -229357,16 +229394,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:85279"} subset: orphanet_rare {source="Orphanet:85279"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive" EXACT [OMIM:300534, OMIM:genemap2] -synonym: "intellectual disability, X-linked, syndromic, Claes-Jensen type" EXACT [DOID:0060809, MONDO:Lexical, OMIM:300534] -synonym: "intellectual disability, X-linked, syndromic, JARID1C-related" RELATED [OMIM:300534] +synonym: "intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked, syndromic, Claes-Jensen type" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked, syndromic, JARID1C-related" RELATED [] synonym: "mental retardation, X-linked, syndromic, Claes-Jensen type" EXACT DEPRECATED [DOID:0060809, MONDO:Lexical, OMIM:300534] -synonym: "mental retardation, X-linked, syndromic, JARID1C-related" RELATED DEPRECATED [OMIM:300534] +synonym: "mental retardation, X-linked, syndromic, JARID1C-related" RELATED DEPRECATED [] synonym: "MRXSCJ" EXACT ABBREVIATION [DOID:0060809, MONDO:Lexical, OMIM:300534] synonym: "MRXSJ" EXACT ABBREVIATION [DOID:0060809] -synonym: "syndromic X-linked intellectual disability Claes-Jensen type" EXACT CLINGEN_LABEL [] +synonym: "syndromic X-linked intellectual disability Claes-Jensen type" EXACT CLINGEN_LABEL [DOID:0060809] synonym: "syndromic X-linked intellectual disability due to JARID1C mutation" EXACT [DOID:0060809] -synonym: "syndromic X-linked intellectual disability JARID1C-related" EXACT [DOID:0060809] +synonym: "syndromic X-linked intellectual disability JARID1C-related" EXACT [] synonym: "syndromic X-linked mental retardation JARID1C-related" EXACT DEPRECATED [DOID:0060809] xref: DOID:0060809 {source="MONDO:equivalentTo"} xref: GARD:16744 {source="MONDO:GARD"} @@ -229394,9 +229431,9 @@ subset: ordo_disorder {source="Orphanet:93606"} subset: orphanet_rare {source="Orphanet:93606"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "nephrogenic syndrome of inappropriate antidiuresis" EXACT [MONDO:Lexical, OMIM:300539] -synonym: "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive" EXACT [OMIM:300539, OMIM:genemap2] -synonym: "NSIAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300539, Orphanet:93606] +synonym: "nephrogenic syndrome of inappropriate antidiuresis" EXACT [DOID:0112121, icd11.foundation:808905140, MONDO:Lexical, OMIM:300539, Orphanet:93606] +synonym: "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive" EXACT [] +synonym: "NSIAD" EXACT ABBREVIATION [DOID:0112121, MONDO:Lexical, OMIM:300539, Orphanet:93606] xref: DOID:0112121 {source="MONDO:equivalentTo"} xref: GARD:10306 {source="MONDO:GARD"} xref: ICD10CM:E22.2 {source="Orphanet:93606/attributed", source="Orphanet:93606/ntbt", source="Orphanet:93606"} @@ -229458,11 +229495,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93623"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DENT disease 2" RELATED [OMIM:300555] -synonym: "dent disease 2, X-linked recessive" EXACT [OMIM:300555, OMIM:genemap2] +synonym: "DENT disease 2" RELATED [] +synonym: "dent disease 2, X-linked recessive" EXACT [] synonym: "Dent disease caused by mutation in OCRL" EXACT [MONDO:design_pattern] -synonym: "Dent disease type 2" EXACT [MONDORULE:1, OMIM:300555] -synonym: "nephrolithiasis type 2" EXACT [Orphanet:93623] +synonym: "Dent disease type 2" EXACT [icd11.foundation:2053330521, MONDORULE:1, Orphanet:93623] +synonym: "nephrolithiasis type 2" EXACT [] synonym: "OCRL Dent disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081454 {source="MONDO:equivalentTo"} xref: GARD:10645 {source="MONDO:GARD"} @@ -229487,8 +229524,8 @@ name: parkinson disease 12 subset: gard_rare {source="GARD:18604", source="MONDO:GARD"} subset: rare synonym: "PARK12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300557] -synonym: "Parkinson disease 12" RELATED [MONDO:Lexical, OMIM:300557] -synonym: "Parkinson disease, X-linked" RELATED [OMIM:300557] +synonym: "Parkinson disease 12" RELATED [MONDO:Lexical] +synonym: "Parkinson disease, X-linked" RELATED [] xref: GARD:18604 {source="MONDO:GARD"} xref: MEDGEN:337173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564486 {source="MONDO:equivalentTo"} @@ -229505,14 +229542,14 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="GARD:22682", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 30, X-linked recessive" EXACT [OMIM:300558, OMIM:genemap2] -synonym: "intellectual disability, X-linked 30" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300558] -synonym: "intellectual disability, X-linked 47" RELATED [OMIM:300558] -synonym: "intellectual disability, X-linked type 30" EXACT [MONDORULE:2, OMIM:300558] -synonym: "mental retardation, X-linked 30" RELATED DEPRECATED [MONDO:Lexical, OMIM:300558] -synonym: "mental retardation, X-linked 47" RELATED DEPRECATED [OMIM:300558] -synonym: "mental retardation, X-linked type 30" EXACT DEPRECATED [MONDORULE:2, OMIM:300558] -synonym: "MRX30" RELATED DEPRECATED [MONDO:Lexical, OMIM:300558] +synonym: "intellectual developmental disorder, X-linked 30, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 30" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked 47" RELATED [] +synonym: "intellectual disability, X-linked type 30" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 30" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 47" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked type 30" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX30" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in PAK3" EXACT [MONDO:design_pattern] synonym: "PAK3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112051 {source="MONDO:equivalentTo"} @@ -229538,32 +229575,32 @@ subset: orphanet_rare {source="Orphanet:715"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glycogen storage disease caused by mutation in PHKA1" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/] +synonym: "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715] synonym: "glycogen storage disease type 9D" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715] -synonym: "glycogen storage disease type 9E" RELATED EXCLUDE [DOID:0111040, Orphanet:715] +synonym: "glycogen storage disease type 9E" RELATED EXCLUDE [] synonym: "glycogen storage disease type IXd" EXACT [DOID:0111040, MONDORULE:5, Orphanet:715] -synonym: "glycogen storage disease type IXe" RELATED EXCLUDE [DOID:0111040, Orphanet:715] -synonym: "glycogen storage disease, type IXd" RELATED [MONDO:Lexical, OMIM:300559] +synonym: "glycogen storage disease type IXe" RELATED EXCLUDE [] +synonym: "glycogen storage disease, type IXd" RELATED [MONDO:Lexical] synonym: "glycogenosis due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, Orphanet:715] synonym: "glycogenosis type 9D" EXACT [DOID:0111040, Orphanet:715] -synonym: "glycogenosis type 9E" RELATED EXCLUDE [DOID:0111040, Orphanet:715] +synonym: "glycogenosis type 9E" RELATED EXCLUDE [] synonym: "glycogenosis type IXd" EXACT [DOID:0111040, Orphanet:715] -synonym: "glycogenosis type IXe" RELATED EXCLUDE [DOID:0111040, Orphanet:715] +synonym: "glycogenosis type IXe" RELATED EXCLUDE [] synonym: "GSD due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, Orphanet:715] -synonym: "GSD IXd" EXACT [DOID:0111040] +synonym: "GSD IXd" EXACT ABBREVIATION [DOID:0111040, OMIM:300559] synonym: "GSD type 9D" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715] -synonym: "GSD type 9E" RELATED EXCLUDE [DOID:0111040, Orphanet:715] +synonym: "GSD type 9E" RELATED EXCLUDE [] synonym: "GSD type IXd" EXACT [DOID:0111040, https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:715] -synonym: "GSD type IXe" RELATED EXCLUDE [DOID:0111040, Orphanet:715] +synonym: "GSD type IXe" RELATED EXCLUDE [] synonym: "GSD Vb" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/books/NBK55061/#gsd9.Nomenclature] synonym: "GSD9D" EXACT ABBREVIATION [DOID:0111040, MONDO:Lexical, OMIM:300559] -synonym: "muscle glycogenosis, X-linked" RELATED [OMIM:300559] -synonym: "muscle glycogenosis, X-linked recessive" EXACT [OMIM:300559, OMIM:genemap2] +synonym: "muscle glycogenosis, X-linked" RELATED [] +synonym: "muscle glycogenosis, X-linked recessive" EXACT [] synonym: "muscle phosphorylase kinase deficiency" EXACT [DOID:0111040, OMIM:300559] synonym: "muscular phosphorylase kinase deficiency" RELATED [GARD:0003858] synonym: "PHKA1 glycogen storage disease" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PHKA1-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] -synonym: "X-linked muscke glycogenosis" RELATED EXCLUDE [DOID:0111040] +synonym: "X-linked muscke glycogenosis" RELATED EXCLUDE [] xref: DOID:0111040 {source="MONDO:equivalentTo"} xref: GARD:3858 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:715", source="DOID:0111040", source="Orphanet:715/attributed", source="Orphanet:715/ntbt"} @@ -229590,12 +229627,12 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 91" EXACT [MONDO:Lexical, OMIM:300577] -synonym: "intellectual disability, X-linked type 91" EXACT [MONDORULE:2, OMIM:300577] -synonym: "mental retardation, X-linked 91" RELATED DEPRECATED [MONDO:Lexical, OMIM:300577] -synonym: "mental retardation, X-linked 91, X-linked dominant" EXACT [OMIM:300577, OMIM:genemap2] -synonym: "mental retardation, X-linked type 91" EXACT DEPRECATED [MONDORULE:2, OMIM:300577] -synonym: "MRX91" RELATED DEPRECATED [MONDO:Lexical, OMIM:300577] +synonym: "intellectual disability, X-linked 91" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 91" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 91" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 91, X-linked dominant" EXACT [] +synonym: "mental retardation, X-linked type 91" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX91" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15" EXACT [MONDO:design_pattern] synonym: "ZDHHC15 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112043 {source="MONDO:equivalentTo"} @@ -229620,10 +229657,10 @@ subset: orphanet_rare {source="Orphanet:85332"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Aldred syndrome" EXACT [Orphanet:85332] -synonym: "chromosome Xp11.3 deletion syndrome" RELATED [OMIM:300578] -synonym: "chromosome xp11.3 deletion syndrome, X-linked recessive" EXACT [OMIM:300578, OMIM:genemap2] -synonym: "intellectual disability, X-linked, with retinitis pigmentosa" RELATED [OMIM:300578] -synonym: "mental retardation, X-linked, with retinitis pigmentosa" RELATED DEPRECATED [OMIM:300578] +synonym: "chromosome Xp11.3 deletion syndrome" RELATED [] +synonym: "chromosome xp11.3 deletion syndrome, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked, with retinitis pigmentosa" RELATED [] +synonym: "mental retardation, X-linked, with retinitis pigmentosa" RELATED DEPRECATED [] synonym: "nonspecific intellectual disability associated with retinitis pigmentosa" RELATED [GARD:0008360] synonym: "nonspecific mental retardation associated with retinitis pigmentosa" RELATED DEPRECATED [GARD:0008360] synonym: "retinitis pigmentosa and intellectual disability due to del(X)(p11.3)" EXACT [Orphanet:85332] @@ -229652,9 +229689,9 @@ id: MONDO:0010365 name: myopathy, congenital, with fiber-type disproportion, X-linked subset: gard_rare {source="GARD:15258", source="MONDO:GARD"} subset: rare -synonym: "CFTDX" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300580] +synonym: "CFTDX" EXACT ABBREVIATION [DOID:0111226, MONDO:Lexical, OMIM:300580] synonym: "myopathy, congenital, with fiber-type disproportion, X-linked" EXACT [MONDO:Lexical, OMIM:300580] -synonym: "myopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant" EXACT [OMIM:300580, OMIM:genemap2] +synonym: "myopathy, congenital, with fiber-type disproportion, X-linked, X-linked dominant" EXACT [] xref: DOID:0111226 {source="MONDO:equivalentTo"} xref: GARD:15258 {source="MONDO:GARD"} xref: MEDGEN:440714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -229669,7 +229706,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010366 name: FG syndrome 5 synonym: "FG syndrome 5" EXACT [MONDO:Lexical, OMIM:300581] -synonym: "FGS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300581] +synonym: "FGS5" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:336854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564480 {source="MONDO:equivalentTo"} xref: OMIM:300581 {source="MONDO:equivalentTo"} @@ -229687,9 +229724,9 @@ subset: ordo_disorder {source="Orphanet:314795"} subset: orphanet_rare {source="Orphanet:314795"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ISS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300582] -synonym: "short stature, idiopathic familial" EXACT [OMIM:300582, OMIM:genemap2] -synonym: "short stature, idiopathic, X-linked" RELATED [MONDO:Lexical, OMIM:300582] +synonym: "ISS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "short stature, idiopathic familial" EXACT [] +synonym: "short stature, idiopathic, X-linked" RELATED [MONDO:Lexical] xref: DOID:0112120 {source="MONDO:equivalentTo"} xref: GARD:17434 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:314795/attributed", source="Orphanet:314795/ntbt", source="Orphanet:314795"} @@ -229716,9 +229753,9 @@ replaced_by: MONDO:0010386 [Term] id: MONDO:0010369 name: nystagmus 5, congenital, X-linked -synonym: "NYS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300589] -synonym: "NYSTAGMUS 5, congenital, X-linked" RELATED [MONDO:Lexical, OMIM:300589] -synonym: "nystagmus 5, congenital, X-linked, X-linked dominant" EXACT [OMIM:300589, OMIM:genemap2] +synonym: "NYS5" EXACT ABBREVIATION [DOID:0111796, MONDO:Lexical, OMIM:300589] +synonym: "NYSTAGMUS 5, congenital, X-linked" RELATED [MONDO:Lexical] +synonym: "nystagmus 5, congenital, X-linked, X-linked dominant" EXACT [] xref: DOID:0111796 {source="MONDO:equivalentTo"} xref: MEDGEN:375583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300589 {source="MONDO:equivalentTo"} @@ -229736,14 +229773,14 @@ def: "An X-linked inherited form of Cornelia De Lange syndrome caused by mutatio subset: gard_rare {source="GARD:15259", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Cdls, X-linked" RELATED [OMIM:300590] -synonym: "CDLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300590] -synonym: "Cornelia DE Lange syndrome 2" RELATED [OMIM:300590] -synonym: "Cornelia de Lange syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300590] -synonym: "Cornelia de Lange syndrome 2, X-linked dominant" EXACT [OMIM:300590, OMIM:genemap2] +synonym: "Cdls, X-linked" RELATED [] +synonym: "CDLS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Cornelia DE Lange syndrome 2" RELATED [] +synonym: "Cornelia de Lange syndrome 2" EXACT CLINGEN_LABEL [DOID:0080506, MONDO:Lexical] +synonym: "Cornelia de Lange syndrome 2, X-linked dominant" EXACT [] synonym: "Cornelia de Lange syndrome caused by mutation in SMC1A" EXACT [MONDO:design_pattern] -synonym: "Cornelia De Lange syndrome type 2" EXACT [MONDORULE:1, OMIM:300590] -synonym: "Cornelia De Lange syndrome, X-linked" RELATED [OMIM:300590] +synonym: "Cornelia De Lange syndrome type 2" EXACT [MONDORULE:1] +synonym: "Cornelia De Lange syndrome, X-linked" RELATED [] synonym: "SMC1A Cornelia de Lange syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "X-linked Cornelia De Lange syndrome" EXACT [NCIT:C75485] xref: DOID:0080506 {source="MONDO:equivalentTo"} @@ -229772,13 +229809,13 @@ subset: orphanet_rare {source="Orphanet:178333"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AIED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300600, Orphanet:178333] -synonym: "ALAND ISLAND eye disease" RELATED [OMIM:300600] -synonym: "Aland island eye disease" EXACT [MONDO:Lexical, OMIM:300600] +synonym: "ALAND ISLAND eye disease" RELATED [] +synonym: "Aland island eye disease" EXACT [DOID:0050630, MONDO:Lexical, OMIM:300600] synonym: "Forsius Eriksson type ocular albinism" RELATED [GARD:0010574] synonym: "Forsius-Eriksson syndrome" EXACT [DOID:0050630, Orphanet:178333] -synonym: "FORSIUS-Eriksson type ocular albinism" EXACT [DOID:0050630] -synonym: "Forsius-Eriksson type ocular albinism" EXACT [OMIM:300600, Orphanet:178333] -synonym: "Åland Islands eye disease" RELATED [Orphanet:178333] +synonym: "FORSIUS-Eriksson type ocular albinism" EXACT [DOID:0050630, OMIM:300600, Orphanet:178333] +synonym: "Forsius-Eriksson type ocular albinism" EXACT [DOID:0050630, OMIM:300600, Orphanet:178333] +synonym: "Åland Islands eye disease" RELATED [] xref: DOID:0050630 {source="MONDO:equivalentTo"} xref: GARD:10574 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:178333", source="Orphanet:178333/attributed", source="Orphanet:178333/ntbt", source="MONDO:directSiblingOf"} @@ -229811,10 +229848,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "POF1B primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "POF2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300604] +synonym: "POF2B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "premature ovarian failure 2B" EXACT [MONDO:Lexical, OMIM:300604] -synonym: "premature ovarian failure 2B, X-linked recessive" EXACT [OMIM:300604, OMIM:genemap2] -synonym: "premature ovarian failure type 2B" EXACT [MONDORULE:4, OMIM:300604] +synonym: "premature ovarian failure 2B, X-linked recessive" EXACT [] +synonym: "premature ovarian failure type 2B" EXACT [MONDORULE:4] synonym: "primary ovarian failure caused by mutation in POF1B" EXACT [MONDO:design_pattern] xref: DOID:0080859 {source="MONDO:equivalentTo"} xref: MEDGEN:337159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -229836,8 +229873,8 @@ def: "A retinitis pigmentosa that has material basis in variation in the chromos subset: gard_rare {source="GARD:10390", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 34" EXACT [MONDO:Lexical, OMIM:300605] -synonym: "retinitis pigmentosa type 34" EXACT [DOID:0110417, MONDORULE:2] +synonym: "retinitis pigmentosa 34" EXACT [DOID:0110417, MONDO:Lexical, OMIM:300605] +synonym: "retinitis pigmentosa type 34" EXACT [MONDORULE:2] synonym: "RP 34" RELATED [GARD:0010390] synonym: "RP34" EXACT ABBREVIATION [DOID:0110417, MONDO:Lexical, OMIM:300605] xref: DOID:0110417 {source="MONDO:equivalentTo"} @@ -229859,13 +229896,13 @@ subset: ordo_disorder {source="Orphanet:163985"} subset: orphanet_rare {source="Orphanet:163985"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE8" EXACT ABBREVIATION [OMIM:300607] -synonym: "developmental and epileptic encephalopathy 8" EXACT [OMIM:300607, OMIM:genemap2] +synonym: "DEE8" EXACT ABBREVIATION [DOID:0080215, OMIM:300607] +synonym: "developmental and epileptic encephalopathy 8" EXACT [DOID:0080215, OMIM:300607] synonym: "early infantile epileptic encephalopathy 8" EXACT [DOID:0080215] -synonym: "EIEE8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300607] +synonym: "EIEE8" EXACT ABBREVIATION [DOID:0080215, MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 8" EXACT [MONDO:Lexical, OMIM:300607] -synonym: "epileptic encephalopathy, early infantile, type 8" EXACT [MONDORULE:1, OMIM:300607] -synonym: "hyperekplexia and epilepsy" RELATED [OMIM:300607] +synonym: "epileptic encephalopathy, early infantile, type 8" EXACT [MONDORULE:1] +synonym: "hyperekplexia and epilepsy" RELATED [] synonym: "hyperekplexia-epilepsy syndrome" EXACT [Orphanet:163985] xref: DOID:0080215 {source="MONDO:equivalentTo"} xref: GARD:17010 {source="MONDO:GARD"} @@ -229893,7 +229930,7 @@ replaced_by: MONDO:0010407 [Term] id: MONDO:0010377 name: myopia 13, X-linked -synonym: "myopia 13" EXACT [OMIM:300613, OMIM:genemap2] +synonym: "myopia 13" EXACT [] synonym: "myopia 13, X-linked" EXACT [MONDO:Lexical, OMIM:300613] synonym: "MYP13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300613] xref: MEDGEN:335097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -229915,14 +229952,14 @@ subset: ordo_disorder {source="Orphanet:139583"} subset: orphanet_rare {source="Orphanet:139583"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy" RELATED [OMIM:300614] -synonym: "deafness, X-linked 5" RELATED [GARD:0012731, MONDO:Lexical, OMIM:300614] -synonym: "deafness, X-linked 5, X-linked recessive" NARROW [OMIM:300614, OMIM:genemap2] -synonym: "DFNX5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300614] -synonym: "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" EXACT [Orphanet:139583] -synonym: "X-linked hereditary sensory and autonomic neuropathy with deafness" NARROW [OMIM:300614] -synonym: "X-linked hereditary sensory and autonomic neuropathy with hearing loss" EXACT CLINGEN_LABEL [] -synonym: "X-linked HSAN with deafness" NARROW [Orphanet:139583] +synonym: "auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy" RELATED [] +synonym: "deafness, X-linked 5" RELATED [GARD:0012731, MONDO:Lexical] +synonym: "deafness, X-linked 5, X-linked recessive" NARROW [] +synonym: "DFNX5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" EXACT [DOID:0111741, Orphanet:139583] +synonym: "X-linked hereditary sensory and autonomic neuropathy with deafness" NARROW [] +synonym: "X-linked hereditary sensory and autonomic neuropathy with hearing loss" EXACT CLINGEN_LABEL [Orphanet:139583] +synonym: "X-linked HSAN with deafness" NARROW [] xref: DOID:0111741 {source="MONDO:equivalentTo"} xref: GARD:12731 {source="MONDO:GARD"} xref: ICD10CM:G60.8 {source="Orphanet:139583", source="Orphanet:139583/attributed", source="Orphanet:139583/ntbt"} @@ -229953,12 +229990,12 @@ subset: ordo_disorder {source="Orphanet:3057"} subset: orphanet_rare {source="Orphanet:3057"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "antisocial behavior, susceptibility to" RELATED [OMIM:300615] -synonym: "antisocial behavior, X-linked recessive" EXACT [OMIM:300615, OMIM:genemap2] -synonym: "BRNRS" RELATED ABBREVIATION [OMIM:300615] -synonym: "Brunner syndrome" EXACT CLINGEN_LABEL [OMIM:300615, Orphanet:3057] -synonym: "Brunner syndrome, X-linked recessive" EXACT [OMIM:300615, OMIM:genemap2] -synonym: "monoamine oxidase A deficiency" EXACT [DOID:0060693] +synonym: "antisocial behavior, susceptibility to" RELATED [] +synonym: "antisocial behavior, X-linked recessive" EXACT [] +synonym: "BRNRS" RELATED ABBREVIATION [] +synonym: "Brunner syndrome" EXACT CLINGEN_LABEL [DOID:0060693, OMIM:300615, Orphanet:3057] +synonym: "Brunner syndrome, X-linked recessive" EXACT [] +synonym: "monoamine oxidase A deficiency" EXACT [DOID:0060693, Orphanet:3057] xref: DOID:0060693 {source="MONDO:equivalentTo"} xref: GARD:3531 {source="MONDO:GARD"} xref: ICD10CM:E70.8 {source="DOID:0060693", source="Orphanet:3057", source="Orphanet:3057/attributed", source="Orphanet:3057/ntbt"} @@ -229979,8 +230016,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010380 name: cataract, ataxia, short stature, and intellectual disability -synonym: "Casm syndrome" RELATED [OMIM:300619] -synonym: "cataract, ataxia, short stature, and intellectual disability" EXACT [OMIM:300619] +synonym: "Casm syndrome" RELATED [] +synonym: "cataract, ataxia, short stature, and intellectual disability" EXACT [] synonym: "cataract, ataxia, short stature, and mental retardation" EXACT DEPRECATED [OMIM:300619] synonym: "cataracts, ataxia, short stature, and intellectual disability" RELATED [GARD:0010222] synonym: "cataracts, ataxia, short stature, and mental retardation" RELATED DEPRECATED [GARD:0010222] @@ -229993,10 +230030,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0010381 name: Tn polyagglutination syndrome -synonym: "galactosyltransferase deficiency" RELATED [OMIM:300622] -synonym: "Tn polyagglutination syndrome" EXACT [MONDO:Lexical, OMIM:300622] -synonym: "Tn polyagglutination syndrome, somatic" EXACT [OMIM:300622, OMIM:genemap2] -synonym: "TNPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300622] +synonym: "galactosyltransferase deficiency" RELATED [] +synonym: "Tn polyagglutination syndrome" EXACT [DOID:0080520, MONDO:Lexical, OMIM:300622] +synonym: "Tn polyagglutination syndrome, somatic" EXACT [] +synonym: "TNPS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080520 {source="MONDO:equivalentTo"} xref: MEDGEN:82896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562719 {source="MONDO:equivalentTo"} @@ -230017,10 +230054,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:93256"} subset: orphanet_rare {source="Orphanet:93256"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fragile 10 tremor/ataxia syndrome" RELATED [OMIM:300623] -synonym: "fragile X tremor/ataxia syndrome" RELATED [MONDO:Lexical, OMIM:300623] -synonym: "Fragile X tremor/ataxia syndrome, X-linked dominant" EXACT [OMIM:300623, OMIM:genemap2] -synonym: "FXTAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300623] +synonym: "fragile 10 tremor/ataxia syndrome" RELATED [] +synonym: "fragile X tremor/ataxia syndrome" RELATED [MONDO:Lexical] +synonym: "Fragile X tremor/ataxia syndrome, X-linked dominant" EXACT [] +synonym: "FXTAS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "FXTAS syndrome" EXACT [DOID:0050879, Orphanet:93256] xref: DOID:0050879 {source="MONDO:equivalentTo"} xref: GARD:16806 {source="MONDO:GARD"} @@ -230055,25 +230092,25 @@ subset: orphanet_rare {source="Orphanet:908"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fra(X) syndrome" RELATED [GARD:0006464] -synonym: "fragile 10 intellectual disability syndrome" RELATED [OMIM:300624] -synonym: "fragile 10 mental retardation syndrome" RELATED DEPRECATED [OMIM:300624] -synonym: "fragile 10 premature ovarian failure" RELATED [OMIM:300624] -synonym: "fragile 10 syndrome" RELATED [OMIM:300624] -synonym: "fragile X intellectual disability syndrome" EXACT [DOID:14261, OMIM:300624] -synonym: "fragile X mental retardation syndrome" EXACT DEPRECATED [DOID:14261, OMIM:300624] -synonym: "fragile X syndrome" EXACT CLINGEN_LABEL [OMIM:300624] -synonym: "Fragile X syndrome, X-linked dominant" EXACT [OMIM:300624, OMIM:genemap2] +synonym: "fragile 10 intellectual disability syndrome" RELATED [] +synonym: "fragile 10 mental retardation syndrome" RELATED DEPRECATED [] +synonym: "fragile 10 premature ovarian failure" RELATED [] +synonym: "fragile 10 syndrome" RELATED [] +synonym: "fragile X intellectual disability syndrome" EXACT [] +synonym: "fragile X mental retardation syndrome" EXACT DEPRECATED [DOID:14261] +synonym: "fragile X syndrome" EXACT CLINGEN_LABEL [DOID:14261, icd11.foundation:1524287677, NCIT:C84717, Orphanet:908] +synonym: "Fragile X syndrome, X-linked dominant" EXACT [] synonym: "FraX syndrome" EXACT [Orphanet:908] synonym: "FRAXA syndrome" EXACT [Orphanet:908] -synonym: "FXS" EXACT ABBREVIATION [Orphanet:908] -synonym: "intellectual disability, X-linked, associated with Marxq28" RELATED [OMIM:300624] -synonym: "marker 10 syndrome" RELATED [OMIM:300624] -synonym: "marker X syndrome" EXACT [DOID:14261] -synonym: "Martin-Bell syndrome" EXACT [DOID:14261, OMIM:300624, Orphanet:908] -synonym: "mental retardation, X-linked, associated with Marxq28" RELATED DEPRECATED [OMIM:300624] -synonym: "primary ovarian insufficiency, fragile X-associated" RELATED [OMIM:300624] -synonym: "X-linked intellectual disability and macroorchidism" RELATED [OMIM:300624] -synonym: "X-linked mental retardation and macroorchidism" RELATED DEPRECATED [OMIM:300624] +synonym: "FXS" EXACT ABBREVIATION [OMIM:300624, Orphanet:908] +synonym: "intellectual disability, X-linked, associated with Marxq28" RELATED [] +synonym: "marker 10 syndrome" RELATED [] +synonym: "marker X syndrome" EXACT [DOID:14261, icd11.foundation:1524287677] +synonym: "Martin-Bell syndrome" EXACT [DOID:14261, icd11.foundation:1524287677, OMIM:300624, Orphanet:908] +synonym: "mental retardation, X-linked, associated with Marxq28" RELATED DEPRECATED [] +synonym: "primary ovarian insufficiency, fragile X-associated" RELATED [] +synonym: "X-linked intellectual disability and macroorchidism" RELATED [] +synonym: "X-linked mental retardation and macroorchidism" RELATED DEPRECATED [] xref: DOID:14261 {source="MONDO:equivalentTo"} xref: GARD:6464 {source="MONDO:GARD"} xref: ICD10CM:Q99.2 {source="Orphanet:908/e", source="Orphanet:908/specific", source="DOID:14261", source="Orphanet:908"} @@ -230115,8 +230152,8 @@ subset: gard_rare {source="GARD:18185", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hypospadias 1, X-linked" EXACT [MONDO:Lexical, OMIM:300633] -synonym: "hypospadias 1, X-linked, X-linked recessive" EXACT [OMIM:300633, OMIM:genemap2] -synonym: "HYSP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300633] +synonym: "hypospadias 1, X-linked, X-linked recessive" EXACT [] +synonym: "HYSP1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18185 {source="MONDO:GARD"} xref: MEDGEN:394735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567482 {source="MONDO:equivalentTo"} @@ -230136,16 +230173,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:538934"} subset: orphanet_rare {source="Orphanet:538934"} subset: rare -synonym: "lymphoproliferative syndrome, X-linked, 2" RELATED [GARD:0010916, MONDO:Lexical, OMIM:300635] -synonym: "lymphoproliferative syndrome, X-linked, 2, X-linked recessive" EXACT [OMIM:300635, OMIM:genemap2] -synonym: "lymphoproliferative syndrome, X-linked, type 2" EXACT [MONDORULE:1, OMIM:300635] -synonym: "X-linked lymphoproliferative disease due to XIAP deficiency" EXACT CLINGEN_LABEL [] -synonym: "X-linked lymphoproliferative syndrome type 2" EXACT [DOID:0060706, MONDORULE:1] -synonym: "XIAP deficiency" EXACT [DOID:0060706] -synonym: "Xiap deficiency" RELATED [OMIM:300635] +synonym: "lymphoproliferative syndrome, X-linked, 2" RELATED [GARD:0010916, MONDO:Lexical] +synonym: "lymphoproliferative syndrome, X-linked, 2, X-linked recessive" EXACT [] +synonym: "lymphoproliferative syndrome, X-linked, type 2" EXACT [MONDORULE:1] +synonym: "X-linked lymphoproliferative disease due to XIAP deficiency" EXACT CLINGEN_LABEL [Orphanet:538934] +synonym: "X-linked lymphoproliferative syndrome type 2" EXACT [MONDORULE:1, Orphanet:538934] +synonym: "XIAP deficiency" EXACT [DOID:0060706, NCIT:C126295, OMIM:300635] +synonym: "Xiap deficiency" RELATED [] synonym: "XIAP deficiency/XLPs" EXACT [NCIT:C126295] synonym: "XIAP-related lymphoproliferative disease, X-linked" RELATED [GARD:0010916] -synonym: "XLP2" EXACT ABBREVIATION [DOID:0060706, MONDO:Lexical, OMIM:300635] +synonym: "XLP2" EXACT ABBREVIATION [DOID:0060706, MONDO:Lexical, NCIT:C126295, OMIM:300635, Orphanet:538934] xref: DOID:0060706 {source="MONDO:equivalentTo"} xref: GARD:10916 {source="MONDO:GARD"} xref: ICD10CM:D82.3 {source="DOID:0060706"} @@ -230179,28 +230216,28 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:319612"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "atypical Mycobacteriosis, familial, X-linked 1" RELATED [OMIM:300636] +synonym: "atypical Mycobacteriosis, familial, X-linked 1" RELATED [] synonym: "familial X-linked 1 atypical mycobacteriosis" RELATED [GARD:0012915] synonym: "IKBKG invasive pneumococcal disease, recurrent isolated" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "IKBKG X-linked mendelian susceptibility to mycobacterial diseases" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "IMD33" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300636] -synonym: "immunodeficiency 33, Mycobacteriosis, X-linked" EXACT [OMIM:300636] -synonym: "immunodeficiency 33, X-linked recessive" EXACT [OMIM:300636, OMIM:genemap2] -synonym: "immunodeficiency type 33" EXACT [MONDORULE:2, OMIM:300636] -synonym: "immunodeficiency without anhidrotic ectodermal dysplasia" EXACT [MONDO:0010368, OMIM:300584] -synonym: "immunodeficiency, isolated" EXACT [OMIM:300584] -synonym: "immunodeficiency, pure" EXACT [OMIM:300584] +synonym: "IMD33" EXACT ABBREVIATION [DOID:0112003, MONDO:Lexical, OMIM:300636] +synonym: "immunodeficiency 33, Mycobacteriosis, X-linked" EXACT [] +synonym: "immunodeficiency 33, X-linked recessive" EXACT [] +synonym: "immunodeficiency type 33" EXACT [MONDORULE:2] +synonym: "immunodeficiency without anhidrotic ectodermal dysplasia" EXACT [MONDO:0010368] +synonym: "immunodeficiency, isolated" EXACT [] +synonym: "immunodeficiency, pure" EXACT [] synonym: "invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG" EXACT [MONDO:design_pattern] -synonym: "invasive pneumococcal disease, recurrent isolated, 2" EXACT [MONDO:Lexical, OMIM:300640] -synonym: "invasive pneumococcal disease, recurrent isolated, type 2" EXACT [MONDORULE:1, OMIM:300640] -synonym: "IPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300640] +synonym: "invasive pneumococcal disease, recurrent isolated, 2" EXACT [MONDO:Lexical] +synonym: "invasive pneumococcal disease, recurrent isolated, type 2" EXACT [MONDORULE:1] +synonym: "IPD2" EXACT ABBREVIATION [MONDO:Lexical] synonym: "NEMO deficiency syndrome" RELATED [GARD:0012915] synonym: "NF-kappa B essential modulator deficiency" RELATED [GARD:0012915] -synonym: "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG" EXACT [Orphanet:319612] -synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" EXACT [Orphanet:319612] -synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency" EXACT [Orphanet:319612] -synonym: "X-linked MSMD due to IKBKG deficiency" EXACT [Orphanet:319612] -synonym: "X-linked MSMD due to NEMO deficiency" EXACT [Orphanet:319612] +synonym: "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG" EXACT [] +synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" EXACT [DOID:0112003, Orphanet:319612] +synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency" EXACT [DOID:0112003, Orphanet:319612] +synonym: "X-linked MSMD due to IKBKG deficiency" EXACT [DOID:0112003, Orphanet:319612] +synonym: "X-linked MSMD due to NEMO deficiency" EXACT [DOID:0112003, Orphanet:319612] xref: DOID:0112003 {source="MONDO:equivalentTo"} xref: GARD:12915 {source="MONDO:GARD"} xref: ICD10CM:D84.8 {source="Orphanet:319612/attributed", source="Orphanet:319612/ntbt", source="Orphanet:319612"} @@ -230241,11 +230278,11 @@ name: rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked subset: gard_rare {source="GARD:18282", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RESDX" RELATED DEPRECATED [MONDO:Lexical, OMIM:300643] -synonym: "rolandic epilepsy, impaired intellectual development, and speech dyspraxia" EXACT [OMIM:300643, OMIM:genemap2] -synonym: "ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked" RELATED [OMIM:300643] -synonym: "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked" EXACT [MONDO:Lexical, OMIM:300643] -synonym: "ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked" RELATED DEPRECATED [OMIM:300643] +synonym: "RESDX" RELATED DEPRECATED [MONDO:Lexical] +synonym: "rolandic epilepsy, impaired intellectual development, and speech dyspraxia" EXACT [] +synonym: "ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked" RELATED [] +synonym: "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked" EXACT [MONDO:Lexical] +synonym: "ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked" RELATED DEPRECATED [] synonym: "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked" EXACT DEPRECATED [MONDO:Lexical, OMIM:300643] xref: GARD:18282 {source="MONDO:GARD"} xref: MEDGEN:337150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -230266,15 +230303,15 @@ subset: ordo_etiological_subtype {source="Orphanet:319623"} subset: ordo_subtype_of_a_disorder {source="Orphanet:319623"} subset: predisposition subset: rare -synonym: "atypical Mycobacteriosis, familial, X-linked 2" RELATED [OMIM:300645] +synonym: "atypical Mycobacteriosis, familial, X-linked 2" RELATED [] synonym: "CYBB X-linked mendelian susceptibility to mycobacterial diseases" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "IMD34" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300645] -synonym: "immunodeficiency 34" RELATED [MONDO:Lexical, OMIM:300645] -synonym: "immunodeficiency 34, Mycobacteriosis, X-linked" RELATED [OMIM:300645] -synonym: "immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive" EXACT [OMIM:300645, OMIM:genemap2] -synonym: "immunodeficiency type 34" EXACT [MONDORULE:2, OMIM:300645] +synonym: "IMD34" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 34" RELATED [MONDO:Lexical] +synonym: "immunodeficiency 34, Mycobacteriosis, X-linked" RELATED [] +synonym: "immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive" EXACT [] +synonym: "immunodeficiency type 34" EXACT [MONDORULE:2] synonym: "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB" EXACT [] -synonym: "X-linked MSMD due to CYBB deficiency" EXACT [Orphanet:319623] +synonym: "X-linked MSMD due to CYBB deficiency" EXACT [DOID:0112000, Orphanet:319623] xref: DOID:0112000 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.8 {source="Orphanet:319623/attributed", source="Orphanet:319623/ntbt", source="Orphanet:319623"} xref: MEDGEN:370369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -230302,10 +230339,10 @@ subset: orphanet_rare {source="Orphanet:1000"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "albinism ocular late onset sensorineural deafness" RELATED [GARD:0000592] -synonym: "albinism, ocular, with late-onset sensorineural deafness" RELATED [MONDO:Lexical, OMIM:300650] -synonym: "deafness and ocular albinism" RELATED [OMIM:300650] -synonym: "OASD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300650] -synonym: "ocular albinism with sensorineural deafness" RELATED [OMIM:300650] +synonym: "albinism, ocular, with late-onset sensorineural deafness" RELATED [MONDO:Lexical] +synonym: "deafness and ocular albinism" RELATED [] +synonym: "OASD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ocular albinism with sensorineural deafness" RELATED [] xref: GARD:592 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="Orphanet:1000", source="Orphanet:1000/attributed", source="Orphanet:1000/ntbt"} xref: MEDGEN:337149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -230322,7 +230359,7 @@ name: angioma serpiginosum, X-linked subset: gard_rare {source="GARD:10188", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "angio serpiginosum, X-linked dominant" EXACT [OMIM:300652, OMIM:genemap2] +synonym: "angio serpiginosum, X-linked dominant" EXACT [] synonym: "angioma serpiginosum, X-linked" EXACT [OMIM:300652] xref: GARD:10188 {source="MONDO:GARD"} xref: MEDGEN:1648301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -230344,14 +230381,14 @@ subset: orphanet_rare {source="Orphanet:713"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glycogen storage disease caused by mutation in PGK1" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" EXACT CLINGEN_LABEL [] -synonym: "glycogenosis due to phosphoglycerate kinase 1 deficiency" EXACT [Orphanet:713] -synonym: "GSD due to phosphoglycerate kinase 1 deficiency" EXACT [Orphanet:713] +synonym: "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" EXACT CLINGEN_LABEL [DOID:0111933, icd11.foundation:1396572570, Orphanet:713] +synonym: "glycogenosis due to phosphoglycerate kinase 1 deficiency" EXACT [DOID:0111933, icd11.foundation:1396572570, Orphanet:713] +synonym: "GSD due to phosphoglycerate kinase 1 deficiency" EXACT [DOID:0111933, icd11.foundation:1396572570, Orphanet:713] synonym: "PGK deficiency" RELATED [GARD:0007389] -synonym: "Pgk1 deficiency" RELATED [OMIM:300653] +synonym: "Pgk1 deficiency" RELATED [] synonym: "PGK1 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PHOSPHOGLYCERATE KINASE 1 deficiency" RELATED [OMIM:300653] -synonym: "phosphoglycerate kinase 1 deficiency, X-linked recessive" EXACT [OMIM:300653, OMIM:genemap2] +synonym: "PHOSPHOGLYCERATE KINASE 1 deficiency" RELATED [] +synonym: "phosphoglycerate kinase 1 deficiency, X-linked recessive" EXACT [] synonym: "Phosphoglycerate Kinase Deficiency" EXACT [NORD:1577] synonym: "Phosphoglycerate kinase deficiency" RELATED [GARD:0007389] xref: DOID:0111933 {source="MONDO:equivalentTo"} @@ -230387,14 +230424,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BRWD3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, X-linked 93, X-linked recessive" EXACT [OMIM:300659, OMIM:genemap2] -synonym: "intellectual disability, X-linked 93" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300659] -synonym: "intellectual disability, X-linked type 93" EXACT [MONDORULE:2, OMIM:300659] -synonym: "intellectual disability, X-linked, with macrocephaly" RELATED [OMIM:300659] -synonym: "mental retardation, X-linked 93" RELATED DEPRECATED [MONDO:Lexical, OMIM:300659] -synonym: "mental retardation, X-linked type 93" EXACT DEPRECATED [MONDORULE:2, OMIM:300659] -synonym: "mental retardation, X-linked, with macrocephaly" RELATED DEPRECATED [OMIM:300659] -synonym: "MRX93" RELATED DEPRECATED [MONDO:Lexical, OMIM:300659] +synonym: "intellectual developmental disorder, X-linked 93, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 93" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 93" EXACT [MONDORULE:2] +synonym: "intellectual disability, X-linked, with macrocephaly" RELATED [] +synonym: "mental retardation, X-linked 93" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 93" EXACT DEPRECATED [MONDORULE:2] +synonym: "mental retardation, X-linked, with macrocephaly" RELATED DEPRECATED [] +synonym: "MRX93" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in BRWD3" EXACT [MONDO:design_pattern] xref: DOID:0112045 {source="MONDO:equivalentTo"} xref: MEDGEN:410164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -230425,12 +230462,12 @@ subset: ordo_disorder {source="Orphanet:3222"} subset: orphanet_rare {source="Orphanet:3222"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gout, PRPS-related" RELATED [OMIM:300661] -synonym: "gout, PRPS-related, X-linked recessive" EXACT [OMIM:300661, OMIM:genemap2] -synonym: "phosphoribosylpyrophosphate synthetase superactivity" EXACT CLINGEN_LABEL [OMIM:300661] -synonym: "phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive" EXACT [OMIM:300661, OMIM:genemap2] -synonym: "PRPP synthetase superactivity" EXACT [Orphanet:3222] -synonym: "PRPS1 superactivity" EXACT [OMIM:300661, Orphanet:3222] +synonym: "gout, PRPS-related" RELATED [] +synonym: "gout, PRPS-related, X-linked recessive" EXACT [] +synonym: "phosphoribosylpyrophosphate synthetase superactivity" EXACT CLINGEN_LABEL [DOID:0111260, OMIM:300661, Orphanet:3222] +synonym: "phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive" EXACT [] +synonym: "PRPP synthetase superactivity" EXACT [DOID:0111260, Orphanet:3222] +synonym: "PRPS1 superactivity" EXACT [DOID:0111260, OMIM:300661, Orphanet:3222] xref: DOID:0111260 {source="MONDO:equivalentTo"} xref: GARD:4337 {source="MONDO:GARD"} xref: ICD10CM:E79.8 {source="Orphanet:3222", source="Orphanet:3222/attributed", source="Orphanet:3222/ntbt"} @@ -230458,14 +230495,14 @@ subset: ordo_disorder {source="Orphanet:505652"} subset: orphanet_rare {source="Orphanet:505652"} subset: rare synonym: "CDKL5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DEE2" EXACT ABBREVIATION [OMIM:300672] -synonym: "developmental and epileptic encephalopathy 2, X-linked dominant" EXACT [OMIM:300672, OMIM:genemap2] +synonym: "DEE2" EXACT ABBREVIATION [DOID:0080467, OMIM:300672] +synonym: "developmental and epileptic encephalopathy 2, X-linked dominant" EXACT [] synonym: "developmental and epileptic encephalopathy, 2" EXACT CLINGEN_LABEL [] synonym: "early infantile epileptic encephalopathy caused by mutation in CDKL5" EXACT [MONDO:design_pattern] -synonym: "EIEE2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300672] +synonym: "EIEE2" EXACT ABBREVIATION [DOID:0080467, MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 2" EXACT [MONDO:Lexical, OMIM:300672] -synonym: "epileptic encephalopathy, early infantile, type 2" EXACT [MONDORULE:1, OMIM:300672] -synonym: "infantile spasm syndrome, X-linked 2" RELATED [OMIM:300672] +synonym: "epileptic encephalopathy, early infantile, type 2" EXACT [MONDORULE:1] +synonym: "infantile spasm syndrome, X-linked 2" RELATED [] xref: DOID:0080467 {source="MONDO:equivalentTo"} xref: GARD:18617 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:505652"} @@ -230493,9 +230530,9 @@ subset: ordo_disorder {source="Orphanet:209370"} subset: orphanet_rare {source="Orphanet:209370"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "encephalopathy, neonatal severe, due to MECP2 mutations" RELATED [OMIM:300673] -synonym: "encephalopathy, neonatal severe, X-linked recessive" EXACT [OMIM:300673, OMIM:genemap2] -synonym: "severe congenital encephalopathy due to MECP2 mutation" EXACT [Orphanet:209370] +synonym: "encephalopathy, neonatal severe, due to MECP2 mutations" RELATED [] +synonym: "encephalopathy, neonatal severe, X-linked recessive" EXACT [] +synonym: "severe congenital encephalopathy due to MECP2 mutation" EXACT [DOID:0111932, Orphanet:209370] synonym: "severe neonatal encephalopathy due to MECP2 mutations" EXACT [NCIT:C132293] xref: DOID:0111932 {source="MONDO:equivalentTo"} xref: GARD:17103 {source="MONDO:GARD"} @@ -230522,14 +230559,14 @@ def: "Any X-linked syndromic intellectual disability in which the cause of the d subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked syndromic 14, X-linked recessive" EXACT [OMIM:300676, OMIM:genemap2] -synonym: "intellectual disability, X-linked, syndromic 14" EXACT [DOID:0060821, MONDO:Lexical, OMIM:300676] -synonym: "intellectual disability, X-linked, syndromic type 14" EXACT [MONDORULE:2, OMIM:300676] +synonym: "intellectual developmental disorder, X-linked syndromic 14, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked, syndromic 14" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked, syndromic type 14" EXACT [MONDORULE:2] synonym: "mental retardation, X-linked, syndromic 14" EXACT DEPRECATED [DOID:0060821, MONDO:Lexical, OMIM:300676] -synonym: "mental retardation, X-linked, syndromic type 14" EXACT DEPRECATED [MONDORULE:2, OMIM:300676] -synonym: "MRXS14" RELATED DEPRECATED [MONDO:Lexical, OMIM:300676] -synonym: "syndromic X-linked intellectual disability 14" EXACT CLINGEN_LABEL [] -synonym: "syndromic X-linked intellectual disability type 14" EXACT [DOID:0060821, MONDORULE:2] +synonym: "mental retardation, X-linked, syndromic type 14" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRXS14" RELATED DEPRECATED [MONDO:Lexical] +synonym: "syndromic X-linked intellectual disability 14" EXACT CLINGEN_LABEL [DOID:0060821] +synonym: "syndromic X-linked intellectual disability type 14" EXACT [MONDORULE:2] synonym: "UPF3B X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "X-linked syndromic intellectual disability caused by mutation in UPF3B" EXACT [MONDO:design_pattern] xref: DOID:0060821 {source="MONDO:equivalentTo"} @@ -230557,11 +230594,11 @@ subset: ordo_disorder {source="Orphanet:261476"} subset: orphanet_rare {source="Orphanet:261476"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome Xp21 deletion syndrome" EXACT [OMIM:300679] -synonym: "Complex Glycerol kinase deficiency" RELATED [OMIM:300679] -synonym: "complex glycerol kinase deficiency" EXACT [DOID:0060427] +synonym: "chromosome Xp21 deletion syndrome" EXACT [DOID:0060427, OMIM:300679] +synonym: "Complex Glycerol kinase deficiency" RELATED [] +synonym: "complex glycerol kinase deficiency" EXACT [DOID:0060427, OMIM:300679, Orphanet:261476] synonym: "Del(X)(p21)" EXACT [Orphanet:261476] -synonym: "Glycerol kinase deficiency-contiguous gene syndrome" EXACT [Orphanet:261476] +synonym: "Glycerol kinase deficiency-contiguous gene syndrome" EXACT [] synonym: "monosomy Xp21" EXACT [DOID:0060427] synonym: "Xp21 contiguous gene deletion syndrome" EXACT [Orphanet:261476] synonym: "Xp21 microdeletion syndrome" EXACT [DOID:0060427, Orphanet:261476] @@ -230590,10 +230627,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:431272"} subset: orphanet_rare {source="Orphanet:431272"} subset: rare -synonym: "scapuloperoneal myopathy, FHL1-related" RELATED [OMIM:300695] -synonym: "scapuloperoneal myopathy, X-linked dominant" RELATED [MONDO:Lexical, OMIM:300695] -synonym: "scapuloperoneal myopathy, X-linked dominant, X-linked dominant" EXACT [OMIM:300695, OMIM:genemap2] -synonym: "SPM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300695] +synonym: "scapuloperoneal myopathy, FHL1-related" RELATED [] +synonym: "scapuloperoneal myopathy, X-linked dominant" RELATED [MONDO:Lexical] +synonym: "scapuloperoneal myopathy, X-linked dominant, X-linked dominant" EXACT [] +synonym: "SPM" RELATED ABBREVIATION [MONDO:Lexical] synonym: "X-linked scapuloperoneal syndrome" EXACT [Orphanet:431272] synonym: "X-linked SPMD" EXACT [Orphanet:431272] xref: GARD:7608 {source="MONDO:GARD"} @@ -230618,12 +230655,12 @@ subset: ordo_disorder {source="Orphanet:178461"} subset: orphanet_rare {source="Orphanet:178461"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:300696, OMIM:genemap2] -synonym: "Emery-Dreifuss muscular dystrophy 6, X-linked" RELATED [OMIM:300696] -synonym: "myopathy, X-linked, with postural muscle atrophy" RELATED [MONDO:Lexical, OMIM:300696] -synonym: "myopathy, X-linked, with postural muscle atrophy, X-linked recessive" EXACT [OMIM:300696, OMIM:genemap2] -synonym: "X-linked myopathy with postural muscle atrophy" EXACT CLINGEN_LABEL [] -synonym: "XMPMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300696, Orphanet:178461] +synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [] +synonym: "Emery-Dreifuss muscular dystrophy 6, X-linked" RELATED [] +synonym: "myopathy, X-linked, with postural muscle atrophy" RELATED [MONDO:Lexical] +synonym: "myopathy, X-linked, with postural muscle atrophy, X-linked recessive" EXACT [] +synonym: "X-linked myopathy with postural muscle atrophy" EXACT CLINGEN_LABEL [icd11.foundation:420677690, Orphanet:178461] +synonym: "XMPMA" EXACT ABBREVIATION [DOID:0070251, icd11.foundation:420677690, MONDO:Lexical, OMIM:300696, Orphanet:178461] xref: DOID:0070251 {source="MONDO:equivalentTo"} xref: GARD:17081 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:178461/attributed", source="Orphanet:178461/ntbt", source="Orphanet:178461"} @@ -230644,21 +230681,21 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010402 name: syndromic X-linked intellectual disability 94 def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25." [DOID:0060823, PMID:17989220, PMID:19449417, PMID:24721225] -synonym: "intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive" EXACT [OMIM:300699, OMIM:genemap2] -synonym: "intellectual disability, X-linked 94" EXACT [DOID:0060823, OMIM:300699] -synonym: "intellectual disability, X-linked, syndromic 29" RELATED [OMIM:300699] -synonym: "intellectual disability, X-linked, syndromic, Wu type" RELATED [MONDO:Lexical, OMIM:300699] +synonym: "intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 94" EXACT [] +synonym: "intellectual disability, X-linked, syndromic 29" RELATED [] +synonym: "intellectual disability, X-linked, syndromic, Wu type" RELATED [MONDO:Lexical] synonym: "mental retardation, X-linked 94" EXACT DEPRECATED [DOID:0060823, OMIM:300699] -synonym: "mental retardation, X-linked, syndromic 29" RELATED DEPRECATED [OMIM:300699] -synonym: "mental retardation, X-linked, syndromic, Wu type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300699] +synonym: "mental retardation, X-linked, syndromic 29" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic, Wu type" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRX94" EXACT ABBREVIATION [DOID:0060823] synonym: "MRXS29" EXACT ABBREVIATION [DOID:0060823] -synonym: "MRXSW" RELATED DEPRECATED [MONDO:Lexical, OMIM:300699] -synonym: "syndromic X-linked intellectual disability 29" EXACT [DOID:0060823] -synonym: "syndromic X-linked intellectual disability 94" EXACT CLINGEN_LABEL [] +synonym: "MRXSW" RELATED DEPRECATED [MONDO:Lexical] +synonym: "syndromic X-linked intellectual disability 29" EXACT [] +synonym: "syndromic X-linked intellectual disability 94" EXACT CLINGEN_LABEL [DOID:0060823] synonym: "syndromic X-linked intellectual disability due to GRIA3 anomalies" EXACT [DOID:0060823] -synonym: "syndromic X-linked intellectual disability type 94" EXACT [DOID:0060823, MONDORULE:2] -synonym: "syndromic X-linked intellectual disability Wu type" EXACT [DOID:0060823] +synonym: "syndromic X-linked intellectual disability type 94" EXACT [MONDORULE:2] +synonym: "syndromic X-linked intellectual disability Wu type" EXACT [] synonym: "syndromic X-linked mental retardation 29" EXACT DEPRECATED [DOID:0060823] synonym: "syndromic X-linked mental retardation Wu type" EXACT DEPRECATED [DOID:0060823] xref: DOID:0060823 {source="MONDO:equivalentTo"} @@ -230683,10 +230720,10 @@ subset: ordo_disorder {source="Orphanet:998"} subset: ordo_malformation_syndrome {source="Orphanet:998"} subset: orphanet_rare {source="Orphanet:998"} subset: rare -synonym: "ADFN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300700] +synonym: "ADFN" RELATED ABBREVIATION [MONDO:Lexical] synonym: "albinism deafness syndrome" NARROW [GARD:0000589] -synonym: "albinism-deafness syndrome" NARROW [MONDO:Lexical, OMIM:300700, OMIM:genemap2] -synonym: "ALDS" RELATED ABBREVIATION [OMIM:300700] +synonym: "albinism-deafness syndrome" NARROW [MONDO:Lexical] +synonym: "ALDS" RELATED ABBREVIATION [] synonym: "Woolf syndrome" RELATED [Wikipedia:Albinism-deafness_syndrome] synonym: "Woolf's syndrome" EXACT [Wikipedia:Albinism-deafness_syndrome] synonym: "Ziprkowski–Margolis syndrome" EXACT [Wikipedia:Albinism-deafness_syndrome] @@ -230715,10 +230752,10 @@ subset: ordo_disorder {source="Orphanet:314978"} subset: orphanet_rare {source="Orphanet:314978"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCAX5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300703, Orphanet:314978] -synonym: "spinocerebellar ataxia, X-linked 5" RELATED [MONDO:Lexical, OMIM:300703] -synonym: "spinocerebellar ataxia, X-linked 5, X-linked recessive" EXACT [OMIM:300703, OMIM:genemap2] -synonym: "X-linked spinocerebellar ataxia type 5" EXACT [Orphanet:314978] +synonym: "SCAX5" EXACT ABBREVIATION [DOID:0111833, MONDO:Lexical, OMIM:300703] +synonym: "spinocerebellar ataxia, X-linked 5" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, X-linked 5, X-linked recessive" EXACT [] +synonym: "X-linked spinocerebellar ataxia type 5" EXACT [] xref: DOID:0111833 {source="MONDO:equivalentTo"} xref: GARD:17439 {source="MONDO:GARD"} xref: ICD10CM:G11.0 {source="Orphanet:314978", source="Orphanet:314978/attributed", source="Orphanet:314978/ntbt"} @@ -230752,12 +230789,12 @@ name: chromosome Xp11.22 duplication syndrome subset: gard_rare {source="GARD:22683", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "chromosome Xp11.22 duplication syndrome" EXACT [OMIM:300705] -synonym: "intellectual disability, X-linked 17" RELATED [OMIM:300705] -synonym: "intellectual disability, X-linked 31" RELATED [OMIM:300705] -synonym: "mental retardation, X-linked 17" RELATED DEPRECATED [OMIM:300705] -synonym: "mental retardation, X-linked 31" RELATED DEPRECATED [OMIM:300705] -synonym: "Xp11.22 microduplication syndrome" EXACT [OMIM:300705, OMIM:genemap2] +synonym: "chromosome Xp11.22 duplication syndrome" EXACT [DOID:0112037, OMIM:300705] +synonym: "intellectual disability, X-linked 17" RELATED [] +synonym: "intellectual disability, X-linked 31" RELATED [] +synonym: "mental retardation, X-linked 17" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 31" RELATED DEPRECATED [] +synonym: "Xp11.22 microduplication syndrome" EXACT [DOID:0112037] synonym: "Xp11.22-linked intellectual disability" EXACT [DECIPHER:90] xref: DECIPHER:90 {source="MONDO:equivalentTo"} xref: DOID:0112037 {source="MONDO:equivalentTo"} @@ -230779,19 +230816,19 @@ subset: ordo_malformation_syndrome {source="Orphanet:85328"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Brooks Wisniewski Brown syndrome" EXACT [GARD:0005610] -synonym: "Brooks-Wisniewski-Brown Syndrome" EXACT [OMIM:309590] -synonym: "Brooks-Wisniewski-Brown syndrome" EXACT [MONDO:0010376, OMIM:300612] +synonym: "Brooks-Wisniewski-Brown Syndrome" EXACT [DOID:0060811, OMIM:309590] +synonym: "Brooks-Wisniewski-Brown syndrome" EXACT [DOID:0060811, MONDO:0010376, OMIM:309590] synonym: "intellectual disability, X-linked syndromic, Turner type" EXACT CLINGEN_LABEL [] -synonym: "Juberg-Marsidi Syndrome" RELATED [OMIM:309590] -synonym: "mental retardation and macrocephaly syndrome" EXACT DEPRECATED [DOID:0060811, OMIM:300706, OMIM:309590] -synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type" RELATED DEPRECATED [OMIM:309590] -synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type" RELATED DEPRECATED [OMIM:300612] -synonym: "mental retardation, X-linked, syndromic, Turner type" EXACT DEPRECATED [DOID:0060811, MONDO:Lexical, OMIM:300706, OMIM:309590] -synonym: "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism" RELATED DEPRECATED [OMIM:309590] -synonym: "MRXST" EXACT ABBREVIATION [DOID:0060811, MONDO:Lexical, OMIM:300706] -synonym: "syndromic X-linked intellectual disability Turner type" EXACT [OMIM:309590] -synonym: "X-linked intellectual disability, Brooks type" EXACT [DOID:0060829] -synonym: "X-linked intellectual disability, Turner type" EXACT [Orphanet:85328] +synonym: "Juberg-Marsidi Syndrome" RELATED [] +synonym: "mental retardation and macrocephaly syndrome" EXACT DEPRECATED [DOID:0060811, OMIM:309590] +synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic, Turner type" EXACT DEPRECATED [MONDO:Lexical, OMIM:309590] +synonym: "mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism" RELATED DEPRECATED [] +synonym: "MRXST" EXACT ABBREVIATION [DOID:0060811, MONDO:Lexical, OMIM:309590] +synonym: "syndromic X-linked intellectual disability Turner type" EXACT [DOID:0060811] +synonym: "X-linked intellectual disability, Brooks type" EXACT [DOID:0060811] +synonym: "X-linked intellectual disability, Turner type" EXACT [] synonym: "X-linked mental retardation Brooks type" RELATED DEPRECATED [GARD:0005610] xref: DOID:0060811 {source="MONDO:equivalentTo"} xref: DOID:0060829 {source="MONDO:equivalentObsolete"} @@ -230823,14 +230860,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:140952"} subset: orphanet_rare {source="Orphanet:140952"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "STAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300707] -synonym: "STAR syndrome" EXACT [Orphanet:140952] -synonym: "Star syndrome" RELATED [OMIM:300707] -synonym: "STAR syndrome, X-linked dominant" EXACT [OMIM:300707, OMIM:genemap2] -synonym: "syndactyly with renal and anogenital malformations" RELATED [OMIM:300707] +synonym: "STAR" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "STAR syndrome" EXACT [DOID:0111931, OMIM:300707, Orphanet:140952] +synonym: "Star syndrome" RELATED [] +synonym: "STAR syndrome, X-linked dominant" EXACT [] +synonym: "syndactyly with renal and anogenital malformations" RELATED [] synonym: "syndactyly, telecanthus, anogenital and renal malformations" RELATED [GARD:0010295] -synonym: "syndactyly-telecanthus-anogenital and renal malformations syndrome" EXACT CLINGEN_LABEL [] -synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations" RELATED [MONDO:Lexical, OMIM:300707] +synonym: "syndactyly-telecanthus-anogenital and renal malformations syndrome" EXACT CLINGEN_LABEL [DOID:0111931, Orphanet:140952] +synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations" RELATED [MONDO:Lexical] synonym: "toe syndactyly, telecanthus, anogenital and renal malformations" RELATED [GARD:0010295] xref: DOID:0111931 {source="MONDO:equivalentTo"} xref: GARD:10295 {source="MONDO:GARD"} @@ -230860,10 +230897,10 @@ subset: ordo_disorder {source="Orphanet:85324"} subset: ordo_malformation_syndrome {source="Orphanet:85324"} subset: orphanet_rare {source="Orphanet:85324"} subset: rare -synonym: "intellectual disability, X-linked, syndromic 9" EXACT [DOID:0060813, MONDO:Lexical, OMIM:300709] +synonym: "intellectual disability, X-linked, syndromic 9" EXACT [MONDO:Lexical] synonym: "mental retardation, X-linked, syndromic 9" EXACT DEPRECATED [DOID:0060813, MONDO:Lexical, OMIM:300709] synonym: "MRXS9" EXACT ABBREVIATION [DOID:0060813, MONDO:Lexical, OMIM:300709, Orphanet:85324] -synonym: "X-linked intellectual disability, Shrimpton type" RELATED [Orphanet:85324] +synonym: "X-linked intellectual disability, Shrimpton type" RELATED [] xref: DOID:0060813 {source="MONDO:equivalentTo"} xref: GARD:16751 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85324/attributed", source="Orphanet:85324/ntbt", source="Orphanet:85324", source="DOID:0060813"} @@ -230911,8 +230948,8 @@ subset: ordo_disorder {source="Orphanet:163979"} subset: orphanet_rare {source="Orphanet:163979"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "craniofacioskeletal syndrome" RELATED [OMIM:300712] -synonym: "craniofacioskeletal syndrome, X-linked recessive, X-linked dominant" EXACT [OMIM:300712, OMIM:genemap2] +synonym: "craniofacioskeletal syndrome" RELATED [] +synonym: "craniofacioskeletal syndrome, X-linked recessive, X-linked dominant" EXACT [] xref: GARD:17009 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:163979/attributed", source="Orphanet:163979/ntbt", source="Orphanet:163979"} xref: MEDGEN:394716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -230930,10 +230967,10 @@ name: intellectual disability, X-linked 95 subset: gard_rare {source="GARD:22684", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 95" EXACT [MONDO:Lexical, OMIM:300716] -synonym: "mental retardation, X-linked 95" RELATED DEPRECATED [MONDO:Lexical, OMIM:300716] -synonym: "mental retardation, X-linked 95, X-linked dominant" EXACT [OMIM:300716, OMIM:genemap2] -synonym: "MRX95" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300716] +synonym: "intellectual disability, X-linked 95" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 95" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 95, X-linked dominant" EXACT [] +synonym: "MRX95" EXACT ABBREVIATION [MONDO:Lexical] xref: GARD:22684 {source="MONDO:GARD"} xref: MEDGEN:394715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567470 {source="MONDO:equivalentTo"} @@ -230948,10 +230985,10 @@ id: MONDO:0010414 name: myopathy, reducing body, X-linked, early-onset, severe subset: gard_rare {source="GARD:15261", source="MONDO:GARD"} subset: rare -synonym: "myopathy, reducing body, X-linked, early-onset, severe" EXACT [OMIM:300717] -synonym: "RBMX1A" RELATED ABBREVIATION [OMIM:300717] -synonym: "reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant" EXACT [OMIM:300717, OMIM:genemap2] -synonym: "reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset" RELATED [OMIM:300717] +synonym: "myopathy, reducing body, X-linked, early-onset, severe" EXACT [] +synonym: "RBMX1A" RELATED ABBREVIATION [] +synonym: "reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant" EXACT [] +synonym: "reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset" RELATED [] xref: GARD:15261 {source="MONDO:GARD"} xref: MEDGEN:906731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567469 {source="MONDO:equivalentTo"} @@ -230967,9 +231004,9 @@ id: MONDO:0010415 name: myopathy, reducing body, X-linked, childhood-onset subset: gard_rare {source="GARD:15262", source="MONDO:GARD"} subset: rare -synonym: "myopathy, reducing body, X-linked, childhood-onset" EXACT [OMIM:300718] -synonym: "RBMX1B" RELATED ABBREVIATION [OMIM:300718] -synonym: "reducing body myopathy, X-linked 1B, with late childhood or adult onset" RELATED [OMIM:300718] +synonym: "myopathy, reducing body, X-linked, childhood-onset" EXACT [] +synonym: "RBMX1B" RELATED ABBREVIATION [] +synonym: "reducing body myopathy, X-linked 1B, with late childhood or adult onset" RELATED [] xref: DOID:0080687 {source="MONDO:equivalentTo"} xref: GARD:15262 {source="MONDO:GARD"} xref: MEDGEN:904593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -230984,7 +231021,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0010416 name: deafness, cataract, retinitis pigmentosa, and sperm abnormalities synonym: "deafness, cataract, retinitis pigmentosa, and sperm abnormalities" EXACT [OMIM:300719] -synonym: "deafness, cataract, retinitis pigmentosa, and sperm abnormalities, X-linked recessive" EXACT [OMIM:300719, OMIM:genemap2] +synonym: "deafness, cataract, retinitis pigmentosa, and sperm abnormalities, X-linked recessive" EXACT [] xref: MEDGEN:395517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567467 {source="MONDO:equivalentTo"} xref: OMIM:300719 {source="MONDO:equivalentTo"} @@ -231002,19 +231039,19 @@ subset: ordo_disorder {source="Orphanet:163937"} subset: orphanet_rare {source="Orphanet:163937"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant" EXACT [OMIM:300749, OMIM:genemap2] -synonym: "intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia" RELATED [MONDO:Lexical, OMIM:300749] -synonym: "intellectual disability and microcephaly with pontine and cerebellar hypoplasia" EXACT [DOID:0060807, GARD:0012669] -synonym: "intellectual disability, X-linked, syndromic, Najm type" RELATED [OMIM:300749] -synonym: "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia" RELATED DEPRECATED [MONDO:Lexical, OMIM:300749] -synonym: "mental retardation and microcephaly with pontine and cerebellar hypoplasia" EXACT DEPRECATED [DOID:0060807] -synonym: "mental retardation, X-linked, syndromic, Najm type" RELATED DEPRECATED [OMIM:300749] +synonym: "intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant" EXACT [] +synonym: "intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia" RELATED [MONDO:Lexical] +synonym: "intellectual disability and microcephaly with pontine and cerebellar hypoplasia" EXACT [GARD:0012669] +synonym: "intellectual disability, X-linked, syndromic, Najm type" RELATED [] +synonym: "mental retardation and microcephaly with PONTINE and cerebellar hypoplasia" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation and microcephaly with pontine and cerebellar hypoplasia" EXACT DEPRECATED [DOID:0060807, OMIM:300749] +synonym: "mental retardation, X-linked, syndromic, Najm type" RELATED DEPRECATED [] synonym: "MICPCH" EXACT ABBREVIATION [DOID:0060807, MONDO:Lexical, OMIM:300749, Orphanet:163937] -synonym: "Micpch syndrome" RELATED [OMIM:300749] +synonym: "Micpch syndrome" RELATED [] synonym: "microcephaly with pontine and cerebellar hypoplasia" RELATED [GARD:0012669] -synonym: "syndromic X-linked intellectual disability Najm type" EXACT CLINGEN_LABEL [] +synonym: "syndromic X-linked intellectual disability Najm type" EXACT CLINGEN_LABEL [DOID:0060807] synonym: "X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia" RELATED [GARD:0012669] -synonym: "X-linked intellectual disability, Najm type" RELATED [Orphanet:163937] +synonym: "X-linked intellectual disability, Najm type" RELATED [] synonym: "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" EXACT [DOID:0060807, Orphanet:163937] xref: DOID:0060807 {source="MONDO:equivalentTo"} xref: GARD:12669 {source="MONDO:GARD"} @@ -231042,12 +231079,12 @@ subset: ordo_disorder {source="Orphanet:171607"} subset: orphanet_rare {source="Orphanet:171607"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary spastic paraplegia type 34" EXACT [DOID:0110785, MONDORULE:2] -synonym: "spastic paraplegia 34, X-linked" RELATED [MONDO:Lexical, OMIM:300750] -synonym: "spastic paraplegia 34, X-linked, X-linked recessive" EXACT [OMIM:300750, OMIM:genemap2] +synonym: "hereditary spastic paraplegia type 34" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 34, X-linked" RELATED [MONDO:Lexical] +synonym: "spastic paraplegia 34, X-linked, X-linked recessive" EXACT [] synonym: "SPG34" EXACT ABBREVIATION [DOID:0110785, MONDO:Lexical, OMIM:300750, Orphanet:171607] synonym: "X-linked spastic paraplegia 34" EXACT [DOID:0110785] -synonym: "X-linked spastic paraplegia type 34" EXACT [DOID:0110785] +synonym: "X-linked spastic paraplegia type 34" EXACT [DOID:0110785, Orphanet:171607] xref: DOID:0110785 {source="MONDO:equivalentTo"} xref: GARD:17063 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="Orphanet:171607/attributed", source="Orphanet:171607/ntbt", source="Orphanet:171607", source="DOID:0110785"} @@ -231080,15 +231117,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:443197"} subset: orphanet_rare {source="Orphanet:443197"} subset: rare -synonym: "Erythrohepatic protoporphyria, X-linked" RELATED [OMIM:300752] +synonym: "Erythrohepatic protoporphyria, X-linked" RELATED [] synonym: "erythropoietic protoporphyria, X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "protoporphyria, erythropoietic, X-linked" RELATED [MONDO:Lexical, OMIM:300752] -synonym: "protoporphyria, erythropoietic, X-linked dominant" RELATED [OMIM:300752] +synonym: "protoporphyria, erythropoietic, X-linked" RELATED [MONDO:Lexical] +synonym: "protoporphyria, erythropoietic, X-linked dominant" RELATED [] synonym: "X-linked dominant erythropoietic protoporphyria" EXACT [Orphanet:443197] synonym: "X-linked dominant protoporphyria" EXACT [Orphanet:443197] synonym: "XLDPP" EXACT ABBREVIATION [Orphanet:443197] -synonym: "XLEPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300752] -synonym: "XLP" RELATED ABBREVIATION [Orphanet:443197] +synonym: "XLEPP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "XLP" RELATED ABBREVIATION [] synonym: "XLPP" EXACT ABBREVIATION [Orphanet:443197] xref: GARD:17755 {source="MONDO:GARD"} xref: ICD10CM:E80.0 {source="Orphanet:443197/attributed", source="Orphanet:443197/ntbt", source="Orphanet:443197"} @@ -231118,9 +231155,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "agammaglobulinemia, Bruton tyrosine kinase" RELATED [GARD:0001033] synonym: "agammaglobulinemia, BTK" RELATED [GARD:0001033] -synonym: "agammaglobulinemia, X-linked" RELATED [MONDO:Lexical, OMIM:300755] -synonym: "agammaglobulinemia, X-linked 1, X-linked recessive" EXACT [OMIM:300755, OMIM:genemap2] -synonym: "agammaglobulinemia, X-linked, type 1" RELATED [OMIM:300755] +synonym: "agammaglobulinemia, X-linked" RELATED [MONDO:Lexical] +synonym: "agammaglobulinemia, X-linked 1, X-linked recessive" EXACT [] +synonym: "agammaglobulinemia, X-linked, type 1" RELATED [] synonym: "Bruton agammaglobulinemia tyrosine kinase deficiency" EXACT [DOID:14179] synonym: "Bruton type agammaglobulinemia" EXACT [Orphanet:47] synonym: "Bruton's agammaglobulinaemia" EXACT [DOID:14179] @@ -231128,13 +231165,13 @@ synonym: "Bruton's agammaglobulinemia" RELATED [GARD:0001033] synonym: "Bruton's Sex-linked agammaglobulinemia" EXACT [DOID:14179, NCIT:C3822] synonym: "Bruton's type agammaglobulinemia" EXACT [DOID:14179] synonym: "Bruton's X-linked agammaglobulinemia" EXACT [NCIT:C3822] -synonym: "Bruton-type agammaglobulinemia" EXACT CLINGEN_LABEL [OMIM:300755] +synonym: "Bruton-type agammaglobulinemia" EXACT CLINGEN_LABEL [DOID:14179, OMIM:300755] synonym: "BTK deficiency" EXACT [DOID:14179] synonym: "BTK-deficiency" EXACT [Orphanet:47] -synonym: "hypogammaglobulinemia, X-linked" RELATED [OMIM:300755] -synonym: "immunodeficiency 1" RELATED [OMIM:300755] -synonym: "X-linked agammaglobulinemia" EXACT [NCIT:C3822] -synonym: "XLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300755] +synonym: "hypogammaglobulinemia, X-linked" RELATED [] +synonym: "immunodeficiency 1" RELATED [] +synonym: "X-linked agammaglobulinemia" EXACT [DOID:14179, NCIT:C3822, Orphanet:47] +synonym: "XLA" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:14179 {source="MONDO:equivalentTo"} xref: GARD:1033 {source="MONDO:GARD"} xref: ICD10CM:D80.0 {source="Orphanet:47/ntbt", source="Orphanet:47/inclusion", source="Orphanet:47"} @@ -231164,8 +231201,8 @@ name: Alzheimer disease 16 def: "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3." [DOID:0110036, PMID:19136949] synonym: "AD16" EXACT ABBREVIATION [DOID:0110036, MONDO:Lexical, OMIM:300756] synonym: "Alzheimer disease 16" EXACT [MONDO:Lexical, OMIM:300756] -synonym: "Alzheimer's disease 16" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 16" EXACT [DOID:0110036, MONDORULE:2] +synonym: "Alzheimer's disease 16" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110036, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 16" EXACT [MONDORULE:2] xref: DOID:0110036 {source="MONDO:equivalentTo"} xref: MEDGEN:394384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567463 {source="MONDO:equivalentTo"} @@ -231181,8 +231218,8 @@ subset: gard_rare {source="GARD:18186", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hypospadias 2, X-linked" EXACT [MONDO:Lexical, OMIM:300758] -synonym: "hypospadias 2, X-linked, X-linked recessive" EXACT [OMIM:300758, OMIM:genemap2] -synonym: "HYSP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300758] +synonym: "hypospadias 2, X-linked, X-linked recessive" EXACT [] +synonym: "HYSP2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18186 {source="MONDO:GARD"} xref: MEDGEN:437064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567462 {source="MONDO:equivalentTo"} @@ -231199,12 +231236,12 @@ name: surfactant metabolism dysfunction, pulmonary, 4 subset: gard_rare {source="GARD:15263", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Csf2Ra deficiency" RELATED [OMIM:300770] -synonym: "Pap due to Csf2Ra deficiency" RELATED [OMIM:300770] -synonym: "pulmonary alveolar proteinosis, congenital, 4" RELATED [OMIM:300770] -synonym: "SMDP4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300770] +synonym: "Csf2Ra deficiency" RELATED [] +synonym: "Pap due to Csf2Ra deficiency" RELATED [] +synonym: "pulmonary alveolar proteinosis, congenital, 4" RELATED [] +synonym: "SMDP4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "surfactant metabolism dysfunction, pulmonary, 4" EXACT [MONDO:Lexical, OMIM:300770] -synonym: "surfactant metabolism dysfunction, pulmonary, type 4" EXACT [MONDORULE:1, OMIM:300770] +synonym: "surfactant metabolism dysfunction, pulmonary, type 4" EXACT [MONDORULE:1] xref: GARD:15263 {source="MONDO:GARD"} xref: MEDGEN:393858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567461 {source="MONDO:equivalentTo"} @@ -231225,12 +231262,12 @@ subset: orphanet_rare {source="Orphanet:98955"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "band-shaped and whorled microcystic" EXACT [DOID:0060450] -synonym: "band-Shaped and whorled microcystic corneal epithelial dystrophy" RELATED [OMIM:300778] +synonym: "band-Shaped and whorled microcystic corneal epithelial dystrophy" RELATED [] synonym: "band-shaped and whorled microcystic dystrophy of the corneal epithelium" EXACT [Orphanet:98955] -synonym: "corneal dystrophy, Lisch epithelial" RELATED [MONDO:Lexical, OMIM:300778] -synonym: "corneal dystrophy, Lisch epithelial, X-linked dominant" EXACT [OMIM:300778, OMIM:genemap2] -synonym: "LECD" EXACT ABBREVIATION [DOID:0060450, MONDO:Lexical, OMIM:300778, Orphanet:98955] -synonym: "Lisch epithelial corneal dystrophy" EXACT [OMIM:300778] +synonym: "corneal dystrophy, Lisch epithelial" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy, Lisch epithelial, X-linked dominant" EXACT [] +synonym: "LECD" EXACT ABBREVIATION [DOID:0060450, MONDO:Lexical, OMIM:620763, Orphanet:98955] +synonym: "Lisch epithelial corneal dystrophy" EXACT [DOID:0060450, icd11.foundation:1571503165, OMIM:620763, Orphanet:98955] xref: DOID:0060450 {source="MONDO:equivalentTo"} xref: GARD:16877 {source="MONDO:GARD"} xref: ICD10CM:H18.5 {source="DOID:0060450", source="Orphanet:98955", source="Orphanet:98955/attributed", source="Orphanet:98955/ntbt"} @@ -231257,9 +231294,9 @@ subset: ordo_disorder {source="Orphanet:293621"} subset: orphanet_rare {source="Orphanet:293621"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "corneal dystrophy, endothelial, X-linked" RELATED [MONDO:Lexical, OMIM:300779] -synonym: "corneal dystrophy, endothelial, X-linked, X-linked dominant" EXACT [OMIM:300779, OMIM:genemap2] -synonym: "endothelial corneal dystrophy, X-linked" RELATED [OMIM:300779] +synonym: "corneal dystrophy, endothelial, X-linked" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy, endothelial, X-linked, X-linked dominant" EXACT [] +synonym: "endothelial corneal dystrophy, X-linked" RELATED [] synonym: "XECD" EXACT ABBREVIATION [DOID:0060446, MONDO:Lexical, OMIM:300779, Orphanet:293621] xref: DOID:0060446 {source="MONDO:equivalentTo"} xref: GARD:17339 {source="MONDO:GARD"} @@ -231284,12 +231321,12 @@ subset: gard_rare {source="GARD:15264", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, X-linked syndromic, Raymond type" EXACT [DOID:0060824] -synonym: "intellectual disability, X-linked, syndromic, Raymond type" RELATED [MONDO:Lexical, OMIM:300799] +synonym: "intellectual disability, X-linked syndromic, Raymond type" EXACT [] +synonym: "intellectual disability, X-linked, syndromic, Raymond type" RELATED [MONDO:Lexical] synonym: "mental retardation, X-linked syndromic, Raymond type" EXACT DEPRECATED [DOID:0060824] -synonym: "mental retardation, X-linked, syndromic, Raymond type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300799] +synonym: "mental retardation, X-linked, syndromic, Raymond type" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRXSR" EXACT ABBREVIATION [DOID:0060824, MONDO:Lexical, OMIM:300799] -synonym: "syndromic X-linked intellectual disability Raymond type" EXACT CLINGEN_LABEL [] +synonym: "syndromic X-linked intellectual disability Raymond type" EXACT CLINGEN_LABEL [DOID:0060824] xref: DOID:0060824 {source="MONDO:equivalentTo"} xref: GARD:15264 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="DOID:0060824"} @@ -231312,10 +231349,10 @@ subset: ordo_disorder {source="Orphanet:217377"} subset: ordo_malformation_syndrome {source="Orphanet:217377"} subset: orphanet_rare {source="Orphanet:217377"} subset: rare -synonym: "chromosome Xp11.23-p11.22 duplication syndrome" EXACT [OMIM:300801] -synonym: "chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant" EXACT [OMIM:300801, OMIM:genemap2] +synonym: "chromosome Xp11.23-p11.22 duplication syndrome" EXACT [DOID:0060461, OMIM:300801] +synonym: "chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant" EXACT [] synonym: "microduplication Xp11.22-p11.23 syndrome" EXACT [DOID:0060461] -synonym: "trisomy Xp11.22-p11.23" EXACT [DOID:0060461, Orphanet:217377] +synonym: "trisomy Xp11.22-p11.23" EXACT [DOID:0060461] synonym: "Xp11.22-p11.23 Microduplication" EXACT [DECIPHER:89] xref: DECIPHER:89 {source="MONDO:equivalentTo"} xref: DOID:0060461 {source="MONDO:equivalentTo"} @@ -231344,12 +231381,12 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="GARD:22685", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 96, X-linked recessive" EXACT [OMIM:300802, OMIM:genemap2] -synonym: "intellectual disability, X-linked 96" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300802] -synonym: "intellectual disability, X-linked type 96" EXACT [MONDORULE:2, OMIM:300802] -synonym: "mental retardation, X-linked 96" RELATED DEPRECATED [MONDO:Lexical, OMIM:300802] -synonym: "mental retardation, X-linked type 96" EXACT DEPRECATED [MONDORULE:2, OMIM:300802] -synonym: "MRX96" RELATED DEPRECATED [MONDO:Lexical, OMIM:300802] +synonym: "intellectual developmental disorder, X-linked 96, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 96" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 96" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 96" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 96" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX96" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in SYP" EXACT [MONDO:design_pattern] synonym: "SYP non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112035 {source="MONDO:equivalentTo"} @@ -231370,15 +231407,15 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="GARD:22686", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 97" EXACT [OMIM:300803, OMIM:genemap2] -synonym: "intellectual disability, X-linked 65" RELATED [OMIM:300803] -synonym: "intellectual disability, X-linked 97" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300803] -synonym: "intellectual disability, X-linked type 97" EXACT [MONDORULE:2, OMIM:300803] -synonym: "mental retardation, X-linked 65" RELATED DEPRECATED [OMIM:300803] -synonym: "mental retardation, X-linked 97" RELATED DEPRECATED [MONDO:Lexical, OMIM:300803] -synonym: "mental retardation, X-linked type 97" EXACT DEPRECATED [MONDORULE:2, OMIM:300803] -synonym: "MRX97" RELATED DEPRECATED [MONDO:Lexical, OMIM:300803] -synonym: "Mrxz" RELATED [OMIM:300803] +synonym: "intellectual developmental disorder, X-linked 97" EXACT [OMIM:300803] +synonym: "intellectual disability, X-linked 65" RELATED [] +synonym: "intellectual disability, X-linked 97" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 97" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 65" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 97" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 97" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX97" RELATED DEPRECATED [MONDO:Lexical] +synonym: "Mrxz" RELATED [] synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZNF711" EXACT [MONDO:design_pattern] synonym: "ZNF711 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112046 {source="MONDO:equivalentTo"} @@ -231401,10 +231438,10 @@ subset: gard_rare {source="GARD:15265", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS10" EXACT ABBREVIATION [DOID:0110981, MONDO:Lexical, OMIM:300804] -synonym: "Joubert syndrome 10" EXACT [MONDO:Lexical, OMIM:300804] -synonym: "Joubert syndrome 10, X-linked recessive" EXACT [OMIM:300804, OMIM:genemap2] +synonym: "Joubert syndrome 10" EXACT [DOID:0110981, MONDO:Lexical, OMIM:300804] +synonym: "Joubert syndrome 10, X-linked recessive" EXACT [] synonym: "Joubert syndrome caused by mutation in OFD1" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 10" EXACT [DOID:0110981, MONDORULE:2, OMIM:300804] +synonym: "Joubert syndrome type 10" EXACT [MONDORULE:2] synonym: "OFD1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110981 {source="MONDO:equivalentTo"} xref: GARD:15265 {source="MONDO:GARD"} @@ -231428,12 +231465,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deep Venous thrombosis, protection against" RELATED [OMIM:300807] -synonym: "deep venous thrombosis, protection against, X-linked recessive" EXACT [OMIM:300807, OMIM:genemap2] -synonym: "THPH8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300807] -synonym: "thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive" EXACT [OMIM:300807, OMIM:genemap2] -synonym: "thrombophilia, X-linked, due to factor 9 defect" EXACT CLINGEN_LABEL [] -synonym: "thrombophilia, X-linked, due to factor IX defect" EXACT [https://orcid.org/0000-0003-4062-6158, MONDO:Lexical, OMIM:300807] +synonym: "deep Venous thrombosis, protection against" RELATED [] +synonym: "deep venous thrombosis, protection against, X-linked recessive" EXACT [] +synonym: "THPH8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive" EXACT [] +synonym: "thrombophilia, X-linked, due to factor 9 defect" EXACT CLINGEN_LABEL [OMIM:300807] +synonym: "thrombophilia, X-linked, due to factor IX defect" EXACT [https://orcid.org/0000-0003-4062-6158, MONDO:Lexical] xref: DOID:0111899 {source="MONDO:equivalentTo"} xref: MEDGEN:411730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567581 {source="MONDO:equivalentTo"} @@ -231469,13 +231506,13 @@ subset: ordo_disorder {source="Orphanet:3273"} subset: orphanet_rare {source="Orphanet:3273"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "sarcoma, synovial" RELATED [OMIM:300813] +synonym: "sarcoma, synovial" RELATED [] synonym: "sarcoma, synovial, malignant" EXACT [NCIT:C3400] -synonym: "SS" BROAD ABBREVIATION [NCIT:C3400] -synonym: "synovial sarcoma" EXACT [MONDO:ambiguous, NCIT:C3400] +synonym: "SS" BROAD ABBREVIATION [] +synonym: "synovial sarcoma" EXACT [DOID:5485, MONDO:ambiguous, NCIT:C3400, Orphanet:3273] synonym: "synovial sarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "synovial sarcoma, NOS" RELATED EXCLUDE [NCIT:C3400] -synonym: "synovial sarcoma, not otherwise specified" RELATED EXCLUDE [NCIT:C3400] +synonym: "synovial sarcoma, NOS" RELATED EXCLUDE [] +synonym: "synovial sarcoma, not otherwise specified" RELATED EXCLUDE [] synonym: "Synovialosarcoma" EXACT [Orphanet:3273] xref: DOID:5485 {source="EFO:0001376", source="MONDO:equivalentTo"} xref: EFO:0001376 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -231504,10 +231541,10 @@ property_value: IAO:0000589 "synovial sarcoma (disease)" xsd:string id: MONDO:0010435 name: nystagmus 6, congenital, X-linked subset: otar {source="MONDO:OTAR"} -synonym: "NYS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300814] -synonym: "NYSTAGMUS 6, congenital, X-linked" RELATED [OMIM:300814] +synonym: "NYS6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "NYSTAGMUS 6, congenital, X-linked" RELATED [] synonym: "nystagmus 6, congenital, X-linked" EXACT [MONDO:Lexical, OMIM:300814] -synonym: "nystagmus 6, congenital, X-linked, X-linked recessive" EXACT [OMIM:300814, OMIM:genemap2] +synonym: "nystagmus 6, congenital, X-linked, X-linked recessive" EXACT [] xref: DOID:0111795 {source="MONDO:equivalentTo"} xref: MEDGEN:463102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300814 {source="MONDO:equivalentTo"} @@ -231549,13 +231586,13 @@ subset: ordo_disorder {source="Orphanet:238329"} subset: orphanet_rare {source="Orphanet:238329"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 6" RELATED [MONDO:Lexical, OMIM:300816] -synonym: "combined oxidative phosphorylation deficiency 6, X-linked recessive" EXACT [OMIM:300816, OMIM:genemap2] -synonym: "combined oxidative phosphorylation deficiency type 6" EXACT [MONDORULE:1, OMIM:300816] -synonym: "COXPD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300816] -synonym: "encephalomyopathy, mitochondrial, X-linked" RELATED [OMIM:300816] -synonym: "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT [Orphanet:238329] -synonym: "mitochondrial encephalomyopathy due to COXPD6" EXACT [Orphanet:238329] +synonym: "combined oxidative phosphorylation deficiency 6" RELATED [MONDO:Lexical] +synonym: "combined oxidative phosphorylation deficiency 6, X-linked recessive" EXACT [] +synonym: "combined oxidative phosphorylation deficiency type 6" EXACT [MONDORULE:1] +synonym: "COXPD6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "encephalomyopathy, mitochondrial, X-linked" RELATED [] +synonym: "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT [DOID:0111502, Orphanet:238329] +synonym: "mitochondrial encephalomyopathy due to COXPD6" EXACT [DOID:0111502, Orphanet:238329] xref: DOID:0111502 {source="MONDO:equivalentTo"} xref: GARD:17171 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:238329/attributed", source="Orphanet:238329/ntbt", source="Orphanet:238329"} @@ -231580,11 +231617,11 @@ subset: rare synonym: "paroxysmal nocturnal hemoglobinuria 1" EXACT [MONDO:Lexical, OMIM:300818] synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA" EXACT [] synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA" EXACT [MONDO:design_pattern] -synonym: "paroxysmal nocturnal hemoglobinuria type 1" EXACT [MONDORULE:1, OMIM:300818] -synonym: "paroxysmal nocturnal hemoglobinuria, somatic" EXACT [OMIM:300818, OMIM:genemap2] +synonym: "paroxysmal nocturnal hemoglobinuria type 1" EXACT [MONDORULE:1] +synonym: "paroxysmal nocturnal hemoglobinuria, somatic" EXACT [] synonym: "PIGA paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "pIgA paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:design_pattern] -synonym: "PNH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300818] +synonym: "PNH1" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:813000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300818 {source="MONDO:equivalentTo"} xref: Orphanet:447 {source="OMIM:300818"} @@ -231614,12 +231651,12 @@ id: MONDO:0010440 name: autism, susceptibility to, X-linked 4 subset: predisposition synonym: "autism, susceptibility to, X-linked 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300830] -synonym: "autism, susceptibility to, X-linked 4, X-linked recessive" EXACT [OMIM:300830, OMIM:genemap2] -synonym: "autism, susceptibility to, X-linked type 4" EXACT [MONDORULE:1, OMIM:300830] -synonym: "AUTSX4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300830] -synonym: "chromosome Xp22 deletion syndrome" RELATED [OMIM:300830] +synonym: "autism, susceptibility to, X-linked 4, X-linked recessive" EXACT [] +synonym: "autism, susceptibility to, X-linked type 4" EXACT [MONDORULE:1] +synonym: "AUTSX4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "chromosome Xp22 deletion syndrome" RELATED [] synonym: "susceptibility to autism, X-linked" RELATED [GARD:0003775] -synonym: "susceptibility to X-linked autism 4" RELATED [OMIM:300830] +synonym: "susceptibility to X-linked autism 4" RELATED [] synonym: "X-linked susceptibility to autism-4" RELATED [GARD:0003775] xref: MEDGEN:162886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300830 {source="MONDO:equivalentTo"} @@ -231641,11 +231678,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:251383"} subset: orphanet_rare {source="Orphanet:251383"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CK syndrome" EXACT CLINGEN_LABEL [OMIM:300831] -synonym: "CK syndrome, X-linked recessive" EXACT [OMIM:300831, OMIM:genemap2] -synonym: "intellectual disability, X-linked, with thin body habitus and cortical malformation" RELATED [OMIM:300831] -synonym: "mental retardation, X-linked, with thin body habitus and cortical malformation" RELATED DEPRECATED [OMIM:300831] -synonym: "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT [Orphanet:251383] +synonym: "CK syndrome" EXACT CLINGEN_LABEL [DOID:0111898, OMIM:300831, Orphanet:251383] +synonym: "CK syndrome, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked, with thin body habitus and cortical malformation" RELATED [] +synonym: "mental retardation, X-linked, with thin body habitus and cortical malformation" RELATED DEPRECATED [] +synonym: "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT [DOID:0111898, Orphanet:251383] xref: DOID:0111898 {source="MONDO:equivalentTo"} xref: GARD:17210 {source="MONDO:GARD"} xref: MEDGEN:463131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -231665,14 +231702,14 @@ name: 46,XX sex reversal 3 subset: gard_rare {source="GARD:15267", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "46,XX SEX reversal 3" RELATED [OMIM:300833] -synonym: "46,XX sex reversal 3" EXACT [MONDO:Lexical, OMIM:300833] -synonym: "46,XX Sex reversal type 3" EXACT [MONDORULE:1, OMIM:300833] -synonym: "46,XX Sex reversal, Sox3-related" RELATED [OMIM:300833] -synonym: "46XX sex reversal 3, X-linked dominant" EXACT [OMIM:300833, OMIM:genemap2] -synonym: "chromosome Xq26 deletion syndrome" RELATED [OMIM:300833] -synonym: "chromosome Xq26 Duplication syndrome" RELATED [OMIM:300833] -synonym: "SRXX3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300833] +synonym: "46,XX SEX reversal 3" RELATED [] +synonym: "46,XX sex reversal 3" EXACT [DOID:0111762, MONDO:Lexical, OMIM:300833] +synonym: "46,XX Sex reversal type 3" EXACT [MONDORULE:1] +synonym: "46,XX Sex reversal, Sox3-related" RELATED [] +synonym: "46XX sex reversal 3, X-linked dominant" EXACT [] +synonym: "chromosome Xq26 deletion syndrome" RELATED [] +synonym: "chromosome Xq26 Duplication syndrome" RELATED [] +synonym: "SRXX3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111762 {source="MONDO:equivalentTo"} xref: GARD:15267 {source="MONDO:GARD"} xref: MEDGEN:463132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -231688,8 +231725,8 @@ name: macular degeneration, X-linked atrophic subset: gard_rare {source="GARD:15268", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "macular degeneration, X-linked atrophic" EXACT [OMIM:300834] -synonym: "macular degeneration, X-linked atrophic, X-linked recessive" EXACT [OMIM:300834, OMIM:genemap2] +synonym: "macular degeneration, X-linked atrophic" EXACT [] +synonym: "macular degeneration, X-linked atrophic, X-linked recessive" EXACT [] xref: DOID:0112157 {source="MONDO:equivalentTo"} xref: GARD:15268 {source="MONDO:GARD"} xref: MEDGEN:463134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -231708,9 +231745,9 @@ subset: ordo_disorder {source="Orphanet:363727"} subset: orphanet_rare {source="Orphanet:363727"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anemia, X-linked, with or without neutropenia and/or platelet abnormalities" RELATED [MONDO:Lexical, OMIM:300835] -synonym: "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive" EXACT [OMIM:300835, OMIM:genemap2] -synonym: "XLANP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300835] +synonym: "anemia, X-linked, with or without neutropenia and/or platelet abnormalities" RELATED [MONDO:Lexical] +synonym: "anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive" EXACT [] +synonym: "XLANP" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0112156 {source="MONDO:equivalentTo"} xref: GARD:17574 {source="MONDO:GARD"} xref: ICD10CM:D64.4 {source="Orphanet:363727/attributed", source="Orphanet:363727/ntbt", source="Orphanet:363727"} @@ -231739,11 +231776,11 @@ subset: ordo_disorder {source="Orphanet:90001"} subset: orphanet_rare {source="Orphanet:90001"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bed" RELATED [MONDO:Lexical, OMIM:300843] -synonym: "BORNHOLM eye disease" RELATED [MONDO:Lexical, OMIM:300843] -synonym: "Bornholm eye disease" EXACT [Orphanet:90001] -synonym: "Bornholm eye disease, X-linked recessive" EXACT [OMIM:300843, OMIM:genemap2] -synonym: "myopia, high, with nonprogressive cone dysfunction" RELATED [OMIM:300843] +synonym: "bed" RELATED [MONDO:Lexical] +synonym: "BORNHOLM eye disease" RELATED [MONDO:Lexical] +synonym: "Bornholm eye disease" EXACT [icd11.foundation:290885874, OMIM:300843, Orphanet:90001] +synonym: "Bornholm eye disease, X-linked recessive" EXACT [] +synonym: "myopia, high, with nonprogressive cone dysfunction" RELATED [] xref: GARD:16782 {source="MONDO:GARD"} xref: ICD10CM:H53.8 {source="Orphanet:90001", source="Orphanet:90001/attributed", source="Orphanet:90001/ntbt"} xref: icd11.foundation:290885874 {source="MONDO:equivalentTo"} @@ -231763,12 +231800,12 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="GARD:22687", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 19, X-linked dominant" EXACT [OMIM:300844, OMIM:genemap2] -synonym: "intellectual disability, X-linked 19" EXACT [MONDO:Lexical, OMIM:300844] -synonym: "intellectual disability, X-linked type 19" EXACT [MONDORULE:2, OMIM:300844] -synonym: "mental retardation, X-linked 19" RELATED DEPRECATED [MONDO:Lexical, OMIM:300844] -synonym: "mental retardation, X-linked type 19" EXACT DEPRECATED [MONDORULE:2, OMIM:300844] -synonym: "MRX19" RELATED DEPRECATED [MONDO:Lexical, OMIM:300844] +synonym: "intellectual developmental disorder, X-linked 19, X-linked dominant" EXACT [] +synonym: "intellectual disability, X-linked 19" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 19" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 19" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 19" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX19" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3" EXACT [MONDO:design_pattern] synonym: "RPS6KA3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112019 {source="MONDO:equivalentTo"} @@ -231794,12 +231831,12 @@ subset: ordo_disorder {source="Orphanet:280679"} subset: orphanet_rare {source="Orphanet:280679"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome Xq28 deletion syndrome, 3.4-Kb" RELATED [OMIM:300845] -synonym: "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:300845] -synonym: "moyamoya disease 4, X-linked recessive" EXACT [OMIM:300845, OMIM:genemap2] +synonym: "chromosome Xq28 deletion syndrome, 3.4-Kb" RELATED [] +synonym: "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism" RELATED [MONDO:Lexical] +synonym: "moyamoya disease 4, X-linked recessive" EXACT [] synonym: "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism" EXACT [Orphanet:280679] -synonym: "MYMY4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300845] -synonym: "syndromic Moyamoya disease" RELATED [OMIM:300845] +synonym: "MYMY4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "syndromic Moyamoya disease" RELATED [] xref: GARD:17301 {source="MONDO:GARD"} xref: icd11.foundation:673174743 {source="MONDO:equivalentTo"} xref: MEDGEN:463207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -231816,9 +231853,9 @@ id: MONDO:0010449 name: autism, susceptibility to, X-linked 5 subset: predisposition synonym: "autism, susceptibility to, X-linked 5" EXACT [MONDO:Lexical, OMIM:300847] -synonym: "autism, susceptibility to, X-linked type 5" EXACT [MONDORULE:1, OMIM:300847] -synonym: "AUTSX5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300847] -synonym: "susceptibility to X-linked autism 5" RELATED [OMIM:300847] +synonym: "autism, susceptibility to, X-linked type 5" EXACT [MONDORULE:1] +synonym: "AUTSX5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to X-linked autism 5" RELATED [] xref: MEDGEN:477069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300847 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:300847"} @@ -231835,10 +231872,10 @@ name: intellectual disability, X-linked 89 subset: gard_rare {source="GARD:22688", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 89" EXACT [MONDO:Lexical, OMIM:300848] -synonym: "mental retardation, X-linked 89" RELATED DEPRECATED [MONDO:Lexical, OMIM:300848] -synonym: "mental retardation, X-linked 89, X-linked dominant" EXACT [OMIM:300848, OMIM:genemap2] -synonym: "MRX89" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300848] +synonym: "intellectual disability, X-linked 89" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 89" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 89, X-linked dominant" EXACT [] +synonym: "MRX89" EXACT ABBREVIATION [DOID:0112031, MONDO:Lexical] xref: DOID:0112031 {source="MONDO:equivalentTo"} xref: GARD:22688 {source="MONDO:GARD"} xref: MEDGEN:333247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -231857,14 +231894,14 @@ subset: gard_rare {source="GARD:22689", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GDI1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, X-linked 41, X-linked dominant" EXACT [OMIM:300849, OMIM:genemap2] -synonym: "intellectual disability, X-linked 41" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300849] -synonym: "intellectual disability, X-linked 48" RELATED [OMIM:300849] -synonym: "intellectual disability, X-linked type 41" EXACT [MONDORULE:2, OMIM:300849] -synonym: "mental retardation, X-linked 41" RELATED DEPRECATED [MONDO:Lexical, OMIM:300849] -synonym: "mental retardation, X-linked 48" RELATED DEPRECATED [OMIM:300849] -synonym: "mental retardation, X-linked type 41" EXACT DEPRECATED [MONDORULE:2, OMIM:300849] -synonym: "MRX41" RELATED DEPRECATED [MONDO:Lexical, OMIM:300849] +synonym: "intellectual developmental disorder, X-linked 41, X-linked dominant" EXACT [] +synonym: "intellectual disability, X-linked 41" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked 48" RELATED [] +synonym: "intellectual disability, X-linked type 41" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 41" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 48" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked type 41" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX41" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in GDI1" EXACT [MONDO:design_pattern] xref: DOID:0112058 {source="MONDO:equivalentTo"} xref: GARD:22689 {source="MONDO:GARD"} @@ -231885,12 +231922,12 @@ subset: gard_rare {source="GARD:22690", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DLG3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, X-linked 90, X-linked recessive" EXACT [OMIM:300850, OMIM:genemap2] -synonym: "intellectual disability, X-linked 90" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300850] -synonym: "intellectual disability, X-linked type 90" EXACT [MONDORULE:2, OMIM:300850] -synonym: "mental retardation, X-linked 90" RELATED DEPRECATED [MONDO:Lexical, OMIM:300850] -synonym: "mental retardation, X-linked type 90" EXACT DEPRECATED [MONDORULE:2, OMIM:300850] -synonym: "MRX90" RELATED DEPRECATED [MONDO:Lexical, OMIM:300850] +synonym: "intellectual developmental disorder, X-linked 90, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 90" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 90" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 90" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 90" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX90" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in DLG3" EXACT [MONDO:design_pattern] xref: DOID:0112041 {source="MONDO:equivalentTo"} xref: GARD:22690 {source="MONDO:GARD"} @@ -231909,10 +231946,10 @@ name: intellectual disability, X-linked 92 subset: gard_rare {source="GARD:22691", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 92" EXACT [MONDO:Lexical, OMIM:300851] -synonym: "mental retardation, X-linked 92" RELATED DEPRECATED [MONDO:Lexical, OMIM:300851] -synonym: "mental retardation, X-linked 92, X-linked recessive" EXACT [OMIM:300851, OMIM:genemap2] -synonym: "MRX92" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300851] +synonym: "intellectual disability, X-linked 92" EXACT [MONDO:Lexical] +synonym: "mental retardation, X-linked 92" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 92, X-linked recessive" EXACT [] +synonym: "MRX92" EXACT ABBREVIATION [DOID:0112032, MONDO:Lexical] xref: DOID:0112032 {source="MONDO:equivalentTo"} xref: GARD:22691 {source="MONDO:GARD"} xref: MEDGEN:335109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -231928,10 +231965,10 @@ name: intellectual disability, X-linked 88 subset: gard_rare {source="GARD:22692", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 88" EXACT [MONDO:Lexical, OMIM:300852] +synonym: "intellectual disability, X-linked 88" EXACT [MONDO:Lexical] synonym: "intellectual disability, XMEN-linked 88" EXACT MISSPELLING [] synonym: "mental retardation, X-linked 88" EXACT DEPRECATED [MONDO:Lexical, OMIM:300852] -synonym: "MRX88" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300852] +synonym: "MRX88" EXACT ABBREVIATION [DOID:0112053, MONDO:Lexical] xref: DOID:0112053 {source="MONDO:equivalentTo"} xref: GARD:22692 {source="MONDO:GARD"} xref: MEDGEN:477075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -231953,12 +231990,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cid due to MAGT1 deficiency" EXACT [Orphanet:317476] synonym: "combined immunodeficiency due to MAGT1 deficiency" EXACT [Orphanet:317476] -synonym: "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive" EXACT [OMIM:300853, OMIM:genemap2] -synonym: "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia" RELATED [MONDO:Lexical, OMIM:300853] -synonym: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" EXACT CLINGEN_LABEL [] -synonym: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" RELATED [DOID:0080319] +synonym: "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive" EXACT [] +synonym: "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia" RELATED [MONDO:Lexical] +synonym: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" EXACT CLINGEN_LABEL [NCIT:C126336, Orphanet:317476] +synonym: "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" RELATED [] synonym: "X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia" RELATED [GARD:0010907] -synonym: "XMEN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300853, Orphanet:317476] +synonym: "XMEN" EXACT ABBREVIATION [DOID:0080319, MONDO:Lexical, NCIT:C126336, OMIM:300853, Orphanet:317476] xref: DOID:0080319 {source="MONDO:equivalentTo"} xref: GARD:10907 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:317476/attributed", source="Orphanet:317476/ntbt", source="Orphanet:317476"} @@ -231979,8 +232016,8 @@ name: renal cell carcinoma, Xp11-associated subset: gard_rare {source="GARD:18445", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RCCX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300854] -synonym: "renal cell carcinoma, papillary, 1" EXACT [OMIM:300854, OMIM:genemap2] +synonym: "RCCX1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "renal cell carcinoma, papillary, 1" EXACT [] synonym: "renal cell carcinoma, Xp11-associated" EXACT [MONDO:Lexical, OMIM:300854] xref: GARD:18445 {source="MONDO:GARD"} xref: MEDGEN:477077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -232010,9 +232047,9 @@ synonym: "N acetyltransferase deficiency" RELATED [GARD:0000188] synonym: "N-alpha-acetyltransferase" EXACT [DOID:0050781] synonym: "N-terminal acetyltransferase deficiency" EXACT [DOID:0050781, OMIM:300855] synonym: "NAT1 deficiency" RELATED [GARD:0000188] -synonym: "Ogden syndrome" EXACT [MONDO:Lexical, OMIM:300855, Orphanet:276432] -synonym: "Ogden syndrome, X-linked recessive, X-linked dominant" EXACT [OMIM:300855, OMIM:genemap2] -synonym: "OGDNS" EXACT ABBREVIATION [DOID:0050781, MONDO:Lexical, OMIM:300855] +synonym: "Ogden syndrome" EXACT [DOID:0050781, MONDO:Lexical, NCIT:C188215, OMIM:300855, Orphanet:276432] +synonym: "Ogden syndrome, X-linked recessive, X-linked dominant" EXACT [] +synonym: "OGDNS" EXACT ABBREVIATION [DOID:0050781, MONDO:Lexical, NCIT:C188215, OMIM:300855] synonym: "premature ageing appearance-developmental delay-cardiac arrhythmia syndrome" EXACT OMO:0003005 [] synonym: "premature aging appearance-developmental delay-cardiac arrhythmia syndrome" EXACT [Orphanet:276432] synonym: "X-linked malformation and infantile lethality syndrome" EXACT [DOID:0050781] @@ -232040,8 +232077,8 @@ name: hypospadias 4, X-linked subset: gard_rare {source="GARD:18187", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hypospadias 4, X-linked, susceptibility to" RELATED [MONDO:Lexical, OMIM:300856] -synonym: "HYSP4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300856] +synonym: "hypospadias 4, X-linked, susceptibility to" RELATED [MONDO:Lexical] +synonym: "HYSP4" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18187 {source="MONDO:GARD"} xref: MEDGEN:477089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300856 {source="MONDO:equivalentTo"} @@ -232059,12 +232096,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ALS15" EXACT ABBREVIATION [DOID:0060206, MONDO:Lexical, OMIM:300857] -synonym: "amyotrophic lateral sclerosis 15" EXACT [DOID:0060206, OMIM:300857] -synonym: "amyotrophic lateral sclerosis 15 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:300857] -synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [DOID:0060206, OMIM:300857] -synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant" EXACT [OMIM:300857, OMIM:genemap2] +synonym: "amyotrophic lateral sclerosis 15" EXACT [DOID:0060206] +synonym: "amyotrophic lateral sclerosis 15 with or without frontotemporal dementia" RELATED [MONDO:Lexical] +synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [DOID:0060206] +synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant" EXACT [] synonym: "amyotrophic lateral sclerosis caused by mutation in UBQLN2" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis type 15" EXACT CLINGEN_LABEL [] +synonym: "amyotrophic lateral sclerosis type 15" EXACT CLINGEN_LABEL [DOID:0060206] synonym: "UBQLN2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060206 {source="MONDO:equivalentTo"} xref: GARD:15269 {source="MONDO:GARD"} @@ -232089,15 +232126,15 @@ subset: ordo_disorder {source="Orphanet:289483"} subset: orphanet_rare {source="Orphanet:289483"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, X-linked, syndromic 17" EXACT [DOID:0060803, MONDO:Lexical, OMIM:300858] -synonym: "intellectual disability, X-linked, with alacrima and achalasia" RELATED [OMIM:300858] -synonym: "intellectual disability-alacrima-achalasia syndrome" EXACT [DOID:0060803] +synonym: "intellectual disability, X-linked, syndromic 17" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked, with alacrima and achalasia" RELATED [] +synonym: "intellectual disability-alacrima-achalasia syndrome" EXACT [DOID:0060803, Orphanet:289483] synonym: "mental retardation, X-linked, syndromic 17" EXACT DEPRECATED [DOID:0060803, MONDO:Lexical, OMIM:300858] -synonym: "mental retardation, X-linked, syndromic 17, X-linked recessive" EXACT [OMIM:300858, OMIM:genemap2] -synonym: "mental retardation, X-linked, with alacrima and achalasia" RELATED DEPRECATED [OMIM:300858] -synonym: "MRXS17" RELATED DEPRECATED [MONDO:Lexical, OMIM:300858] -synonym: "syndromic X-linked intellectual disability type 17" EXACT [DOID:0060803, MONDORULE:2] -synonym: "X-linked intellectual disability with alacrima and achalasia" EXACT [DOID:0060803] +synonym: "mental retardation, X-linked, syndromic 17, X-linked recessive" EXACT [] +synonym: "mental retardation, X-linked, with alacrima and achalasia" RELATED DEPRECATED [] +synonym: "MRXS17" RELATED DEPRECATED [MONDO:Lexical] +synonym: "syndromic X-linked intellectual disability type 17" EXACT [MONDORULE:2] +synonym: "X-linked intellectual disability with alacrima and achalasia" EXACT [] synonym: "X-linked mental retardation with alacrima and achalasia" EXACT DEPRECATED [DOID:0060803] xref: DOID:0060803 {source="MONDO:equivalentTo"} xref: GARD:17326 {source="MONDO:GARD"} @@ -232122,16 +232159,16 @@ subset: ordo_disorder {source="Orphanet:163956"} subset: orphanet_rare {source="Orphanet:163956"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive" EXACT [OMIM:300860, OMIM:genemap2] -synonym: "intellectual disability, X-linked syndromic, Nascimento-type" EXACT [DOID:0060820] -synonym: "intellectual disability, X-linked, syndromic 30" RELATED [OMIM:300860] -synonym: "intellectual disability, X-linked, syndromic, Nascimento type" RELATED [MONDO:Lexical, OMIM:300860] +synonym: "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked syndromic, Nascimento-type" EXACT [] +synonym: "intellectual disability, X-linked, syndromic 30" RELATED [] +synonym: "intellectual disability, X-linked, syndromic, Nascimento type" RELATED [MONDO:Lexical] synonym: "mental retardation, X-linked syndromic, Nascimento-type" EXACT DEPRECATED [DOID:0060820] -synonym: "mental retardation, X-linked, syndromic 30" RELATED DEPRECATED [OMIM:300860] -synonym: "mental retardation, X-linked, syndromic, Nascimento type" RELATED DEPRECATED [MONDO:Lexical, OMIM:300860] -synonym: "MRXSN" RELATED DEPRECATED [MONDO:Lexical, OMIM:300860] -synonym: "syndromic X-linked intellectual disability Nascimento type" EXACT CLINGEN_LABEL [] -synonym: "X-linked intellectual disability, Nascimento type" RELATED [Orphanet:163956] +synonym: "mental retardation, X-linked, syndromic 30" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic, Nascimento type" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRXSN" RELATED DEPRECATED [MONDO:Lexical] +synonym: "syndromic X-linked intellectual disability Nascimento type" EXACT CLINGEN_LABEL [DOID:0060820] +synonym: "X-linked intellectual disability, Nascimento type" RELATED [] synonym: "X-linked intellectual disability-nail dystrophy-seizures syndrome" EXACT [DOID:0060820, Orphanet:163956] xref: DOID:0060820 {source="MONDO:equivalentTo"} xref: GARD:17005 {source="MONDO:GARD"} @@ -232153,13 +232190,13 @@ def: "A syndromic X-linked intellectual disability characterized by moderate int subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked, syndromic, Chudley-Schwartz type" EXACT [DOID:0060819, MONDO:Lexical, OMIM:300861] -synonym: "intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance" RELATED [OMIM:300861] +synonym: "intellectual disability, X-linked, syndromic, Chudley-Schwartz type" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance" RELATED [] synonym: "mental retardation, X-linked, syndromic, Chudley-Schwartz type" EXACT DEPRECATED [DOID:0060819, MONDO:Lexical, OMIM:300861] -synonym: "mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive" EXACT [OMIM:300861, OMIM:genemap2] -synonym: "mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance" RELATED DEPRECATED [OMIM:300861] +synonym: "mental retardation, X-linked, syndromic, Chudley-Schwartz type, X-linked recessive" EXACT [] +synonym: "mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance" RELATED DEPRECATED [] synonym: "MRXSCS" EXACT ABBREVIATION [DOID:0060819, MONDO:Lexical, OMIM:300861] -synonym: "X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance" EXACT [DOID:0060819] +synonym: "X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance" EXACT [] synonym: "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance" EXACT DEPRECATED [DOID:0060819] xref: DOID:0060819 {source="MONDO:equivalentTo"} xref: MEDGEN:477102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -232179,9 +232216,9 @@ subset: ordo_disorder {source="Orphanet:163966"} subset: orphanet_rare {source="Orphanet:163966"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" RELATED [OMIM:300863] -synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant" EXACT [OMIM:300863, OMIM:genemap2] -synonym: "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT [Orphanet:163966] +synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" RELATED [] +synonym: "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant" EXACT [] +synonym: "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT [DOID:0112106, Orphanet:163966] xref: DOID:0112106 {source="MONDO:equivalentTo"} xref: GARD:17007 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:163966/attributed", source="Orphanet:163966/ntbt", source="Orphanet:163966"} @@ -232205,9 +232242,9 @@ subset: ordo_disorder {source="Orphanet:163961"} subset: orphanet_rare {source="Orphanet:163961"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebral-cerebellar-coloboma syndrome, X-linked" RELATED [OMIM:300864] -synonym: "cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive" EXACT [OMIM:300864, OMIM:genemap2] -synonym: "X-linked cerebral-cerebellar-coloboma syndrome" RELATED [Orphanet:163961] +synonym: "cerebral-cerebellar-coloboma syndrome, X-linked" RELATED [] +synonym: "cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive" EXACT [] +synonym: "X-linked cerebral-cerebellar-coloboma syndrome" RELATED [] synonym: "X-linked intellectual disability, Kroes type" EXACT [Orphanet:163961] xref: GARD:17006 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:163961", source="Orphanet:163961/attributed", source="Orphanet:163961/ntbt"} @@ -232228,11 +232265,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15270", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "KABUK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300867] -synonym: "KABUKI syndrome 2" RELATED [OMIM:300867] +synonym: "KABUK2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "KABUKI syndrome 2" RELATED [] synonym: "Kabuki syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300867] -synonym: "Kabuki syndrome 2, X-linked dominant" EXACT [OMIM:300867, OMIM:genemap2] -synonym: "Kabuki syndrome type 2" EXACT [MONDORULE:1, OMIM:300867] +synonym: "Kabuki syndrome 2, X-linked dominant" EXACT [] +synonym: "Kabuki syndrome type 2" EXACT [MONDORULE:1] xref: GARD:15270 {source="MONDO:GARD"} xref: MEDGEN:477126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300867 {source="MONDO:equivalentTo"} @@ -232254,16 +232291,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:300496"} subset: orphanet_rare {source="Orphanet:300496"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE20" EXACT ABBREVIATION [OMIM:300868] -synonym: "developmental and epileptic encephalopathy 20" EXACT [OMIM:300868] +synonym: "DEE20" EXACT ABBREVIATION [] +synonym: "developmental and epileptic encephalopathy 20" EXACT [DOID:0080139, OMIM:300868] synonym: "epileptic encephalopathy, early infantile, 20" EXACT [OMIM:300868] -synonym: "glycosylphosphatidylinositol biosynthesis defect 4" EXACT [OMIM:300868] -synonym: "GPIBD4" EXACT ABBREVIATION [OMIM:300868] +synonym: "glycosylphosphatidylinositol biosynthesis defect 4" EXACT [DOID:0080139, OMIM:300868] +synonym: "GPIBD4" EXACT ABBREVIATION [] synonym: "MCAHS type 2" EXACT [Orphanet:300496] synonym: "MCAHS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300868] -synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300868] -synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive" EXACT [OMIM:300868, OMIM:genemap2] -synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 2" EXACT [DOID:0080139, MONDORULE:1, OMIM:300868] +synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2" EXACT CLINGEN_LABEL [DOID:0080139, MONDO:Lexical, OMIM:300868] +synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive" EXACT [] +synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 2" EXACT [MONDORULE:1, Orphanet:300496] synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" EXACT [MONDO:design_pattern] synonym: "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0080139 {source="MONDO:equivalentTo"} @@ -232297,8 +232334,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:261483"} subset: orphanet_rare {source="Orphanet:261483"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome Xq27.3-q28 DUPLICATION syndrome" RELATED [OMIM:300869] -synonym: "chromosome xq27.3-q28 duplication syndrome, X-linked recessive" EXACT [OMIM:300869, OMIM:genemap2] +synonym: "chromosome Xq27.3-q28 DUPLICATION syndrome" RELATED [] +synonym: "chromosome xq27.3-q28 duplication syndrome, X-linked recessive" EXACT [] synonym: "dup(X)(q27.3q28)" EXACT [Orphanet:261483] synonym: "trisomy Xq27.3-q28" EXACT [Orphanet:261483] synonym: "trisomy Xq27.3q28" EXACT [Orphanet:261483] @@ -232322,7 +232359,7 @@ name: aneurysm, intracranial berry, 5 subset: gard_rare {source="GARD:18321", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, intracranial BERRY, 5" RELATED [MONDO:Lexical, OMIM:300870] +synonym: "aneurysm, intracranial BERRY, 5" RELATED [MONDO:Lexical] synonym: "ANIB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300870] xref: DOID:0080968 {source="MONDO:equivalentTo"} xref: GARD:18321 {source="MONDO:GARD"} @@ -232336,13 +232373,13 @@ is_a: MONDO:0016483 {source="DC-OMIM:300870", source="DOID:0080968", source="OMI id: MONDO:0010469 name: epsilon-trimethyllysine hydroxylase deficiency subset: predisposition -synonym: "autism, susceptibility to, X-linked 6" RELATED [OMIM:300872] -synonym: "autism, susceptibility to, X-linked 6, X-linked recessive" EXACT [OMIM:300872, OMIM:genemap2] -synonym: "AUTSX6" RELATED ABBREVIATION [OMIM:300872] -synonym: "EPSILON-trimethyllysine HYDROXYLASE deficiency" RELATED [OMIM:300872] +synonym: "autism, susceptibility to, X-linked 6" RELATED [] +synonym: "autism, susceptibility to, X-linked 6, X-linked recessive" EXACT [] +synonym: "AUTSX6" RELATED ABBREVIATION [] +synonym: "EPSILON-trimethyllysine HYDROXYLASE deficiency" RELATED [] synonym: "epsilon-trimethyllysine hydroxylase deficiency" EXACT [MONDO:Lexical, OMIM:300872] -synonym: "susceptibility to X-linked autism 6" RELATED [OMIM:300872] -synonym: "TMLHED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300872] +synonym: "susceptibility to X-linked autism 6" RELATED [] +synonym: "TMLHED" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:763789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300872 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:300872"} @@ -232368,11 +232405,11 @@ name: Cornelia de Lange syndrome 5 subset: gard_rare {source="GARD:15271", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CDLS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300882] -synonym: "Cornelia DE Lange syndrome 5" RELATED [OMIM:300882] -synonym: "Cornelia de Lange syndrome 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300882] -synonym: "Cornelia de Lange syndrome 5, X-linked dominant" EXACT [OMIM:300882, OMIM:genemap2] -synonym: "Cornelia De Lange syndrome type 5" EXACT [MONDORULE:1, OMIM:300882] +synonym: "CDLS5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Cornelia DE Lange syndrome 5" RELATED [] +synonym: "Cornelia de Lange syndrome 5" EXACT CLINGEN_LABEL [DOID:0080509, MONDO:Lexical] +synonym: "Cornelia de Lange syndrome 5, X-linked dominant" EXACT [] +synonym: "Cornelia De Lange syndrome type 5" EXACT [MONDORULE:1] xref: DOID:0080509 {source="MONDO:equivalentTo"} xref: GARD:15271 {source="MONDO:GARD"} xref: MEDGEN:763817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -232394,17 +232431,17 @@ subset: ordo_disorder {source="Orphanet:324422"} subset: orphanet_rare {source="Orphanet:324422"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALG13-CDG" EXACT [Orphanet:324422] -synonym: "CDG Is" RELATED [OMIM:300884] +synonym: "ALG13-CDG" EXACT ABBREVIATION [Orphanet:324422] +synonym: "CDG Is" RELATED [] synonym: "CDG syndrome type Is" EXACT [Orphanet:324422] synonym: "CDG-Is" EXACT [Orphanet:324422] -synonym: "CDG1S" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300884, Orphanet:324422] +synonym: "CDG1S" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:324422] synonym: "congenital disorder of glycosylation type 1s" EXACT [Orphanet:324422] synonym: "congenital disorder of glycosylation type Is" EXACT [Orphanet:324422] -synonym: "congenital disorder of glycosylation, type Is" RELATED [MONDO:Lexical, OMIM:300884] +synonym: "congenital disorder of glycosylation, type Is" RELATED [MONDO:Lexical] synonym: "DEE36" EXACT ABBREVIATION [OMIM:300884] -synonym: "developmental and epileptic encephalopathy 36" EXACT [OMIM:300884, OMIM:genemap2] -synonym: "EIEE36" EXACT ABBREVIATION [OMIM:300884] +synonym: "developmental and epileptic encephalopathy 36" EXACT [DOID:0080470, OMIM:300884] +synonym: "EIEE36" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 36" EXACT [OMIM:300884] xref: DOID:0080470 {source="MONDO:equivalentTo"} xref: GARD:12401 {source="MONDO:GARD"} @@ -232433,11 +232470,11 @@ subset: ordo_disorder {source="Orphanet:324410"} subset: orphanet_rare {source="Orphanet:324410"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked syndromic 32, X-linked recessive" EXACT [OMIM:300886, OMIM:genemap2] -synonym: "intellectual disability, X-linked, syndromic 32" EXACT [DOID:0060828, MONDO:Lexical, OMIM:300886] -synonym: "intellectual disability, X-linked, syndromic type 32" EXACT [MONDORULE:2, OMIM:300886] +synonym: "intellectual developmental disorder, X-linked syndromic 32, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked, syndromic 32" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked, syndromic type 32" EXACT [MONDORULE:2] synonym: "mental retardation, X-linked, syndromic 32" EXACT DEPRECATED [DOID:0060828, MONDO:Lexical, OMIM:300886] -synonym: "mental retardation, X-linked, syndromic type 32" EXACT DEPRECATED [MONDORULE:2, OMIM:300886] +synonym: "mental retardation, X-linked, syndromic type 32" EXACT DEPRECATED [MONDORULE:2] synonym: "MRXS32" EXACT ABBREVIATION [DOID:0060828, MONDO:Lexical, OMIM:300886] xref: DOID:0060828 {source="MONDO:equivalentTo"} xref: GARD:17485 {source="MONDO:GARD"} @@ -232457,12 +232494,12 @@ def: "Any microphthalmia with linear skin defects syndrome in which the cause of subset: gard_rare {source="GARD:15272", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies" RELATED [OMIM:300887] +synonym: "aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies" RELATED [] synonym: "COX7B microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "linear skin defects with multiple congenital anomalies 2" EXACT [MONDO:Lexical, OMIM:300887] -synonym: "linear skin defects with multiple congenital anomalies 2, X-linked dominant" EXACT [OMIM:300887, OMIM:genemap2] -synonym: "linear skin defects with multiple congenital anomalies type 2" EXACT [MONDORULE:1, OMIM:300887] -synonym: "LSDMCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300887] +synonym: "linear skin defects with multiple congenital anomalies 2" EXACT [DOID:0111877, MONDO:Lexical, OMIM:300887] +synonym: "linear skin defects with multiple congenital anomalies 2, X-linked dominant" EXACT [] +synonym: "linear skin defects with multiple congenital anomalies type 2" EXACT [MONDORULE:1] +synonym: "LSDMCA2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microphthalmia with linear skin defects syndrome caused by mutation in COX7B" EXACT [MONDO:design_pattern] xref: DOID:0111877 {source="MONDO:equivalentTo"} xref: GARD:15272 {source="MONDO:GARD"} @@ -232489,12 +232526,12 @@ subset: rare synonym: "central hypothyroidism and testicular enlargement" EXACT [DOID:0111140] synonym: "CHTE" EXACT ABBREVIATION [DOID:0111140, MONDO:Lexical, OMIM:300888] synonym: "hypothyroidism Central and testicular enlargement" EXACT [NCIT:C130989] -synonym: "hypothyroidism, central, and testicular enlargement" RELATED [MONDO:Lexical, OMIM:300888] -synonym: "hypothyroidism, central, and testicular enlargement, X-linked recessive" EXACT [OMIM:300888, OMIM:genemap2] -synonym: "IGSF1 deficiency syndrome" EXACT [Orphanet:329235] +synonym: "hypothyroidism, central, and testicular enlargement" RELATED [MONDO:Lexical] +synonym: "hypothyroidism, central, and testicular enlargement, X-linked recessive" EXACT [] +synonym: "IGSF1 deficiency syndrome" EXACT [DOID:0111140, Orphanet:329235] synonym: "Immunoglobulin superfamily member 1 deficiency syndrome" EXACT [NCIT:C130989] synonym: "X-linked central congenital hypothyroidism with late-onset macroorchidism" EXACT [DOID:0111140, Orphanet:329235] -synonym: "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT [DOID:0111140] +synonym: "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT [DOID:0111140, Orphanet:329235] xref: DOID:0111140 {source="MONDO:equivalentTo"} xref: GARD:17499 {source="MONDO:GARD"} xref: ICD10CM:E03.1 {source="DOID:0111140", source="Orphanet:329235/attributed", source="Orphanet:329235/ntbt", source="Orphanet:329235"} @@ -232521,18 +232558,18 @@ subset: ordo_disorder {source="Orphanet:329284"} subset: orphanet_rare {source="Orphanet:329284"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "beta-propeller protein-associated neurodegeneration" EXACT [DOID:0110739, OMIM:300894] -synonym: "BPAN" EXACT ABBREVIATION [DOID:0110739, Orphanet:329284] -synonym: "NBIA5" EXACT ABBREVIATION [DOID:0110739, MONDO:Lexical, OMIM:300894, Orphanet:329284] +synonym: "beta-propeller protein-associated neurodegeneration" EXACT [DOID:0110739, NCIT:C175210, OMIM:300894, Orphanet:329284] +synonym: "BPAN" EXACT ABBREVIATION [DOID:0110739, NCIT:C175210, Orphanet:329284] +synonym: "NBIA5" EXACT ABBREVIATION [DOID:0110739, MONDO:Lexical, NCIT:C175210, OMIM:300894, Orphanet:329284] synonym: "neurodegeneration with brain iron accululation 5" RELATED [GARD:0012570] -synonym: "neurodegeneration with brain iron accumulation 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300894] -synonym: "neurodegeneration with brain iron accumulation 5, X-linked dominant" EXACT [OMIM:300894, OMIM:genemap2] +synonym: "neurodegeneration with brain iron accumulation 5" EXACT CLINGEN_LABEL [DOID:0110739, MONDO:Lexical, NCIT:C175210, OMIM:300894] +synonym: "neurodegeneration with brain iron accumulation 5, X-linked dominant" EXACT [] synonym: "neurodegeneration with brain iron accumulation caused by mutation in WDR45" EXACT [MONDO:design_pattern] -synonym: "neurodegeneration with brain iron accumulation type 5" EXACT [DOID:0110739, MONDORULE:1, OMIM:300894, Orphanet:329284] +synonym: "neurodegeneration with brain iron accumulation type 5" EXACT [MONDORULE:1, Orphanet:329284] synonym: "SENDA" EXACT ABBREVIATION [DOID:0110739, Orphanet:329284] -synonym: "static encephalopathy of childhood with neurdegeneration in adulthood" EXACT [Orphanet:329284] -synonym: "static encephalopathy Of childhood with neurodegeneration In adulthood" EXACT [DOID:0110739] -synonym: "static encephalopathy of childhood with neurodegeneration in adulthood" RELATED [OMIM:300894] +synonym: "static encephalopathy of childhood with neurdegeneration in adulthood" EXACT [] +synonym: "static encephalopathy Of childhood with neurodegeneration In adulthood" EXACT [DOID:0110739, Orphanet:329284] +synonym: "static encephalopathy of childhood with neurodegeneration in adulthood" RELATED [] synonym: "WDR45 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110739 {source="MONDO:equivalentTo"} xref: GARD:12570 {source="MONDO:GARD"} @@ -232560,13 +232597,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:293707"} subset: orphanet_rare {source="Orphanet:293707"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type" EXACT [OMIM:300895, Orphanet:293707] -synonym: "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type" RELATED DEPRECATED [OMIM:300895] +synonym: "blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type" EXACT [Orphanet:293707] +synonym: "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type" RELATED DEPRECATED [] synonym: "BMRS, Maat-Kievit-Brunner type" EXACT [Orphanet:293707] synonym: "BMRS, MKB type" EXACT [Orphanet:293707] -synonym: "Ohdo syndrome, X-linked" RELATED [MONDO:Lexical, OMIM:300895] -synonym: "Ohdo syndrome, X-linked, X-linked recessive" EXACT [OMIM:300895, OMIM:genemap2] -synonym: "OHDOX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300895] +synonym: "Ohdo syndrome, X-linked" RELATED [MONDO:Lexical] +synonym: "Ohdo syndrome, X-linked, X-linked recessive" EXACT [] +synonym: "OHDOX" RELATED ABBREVIATION [MONDO:Lexical] synonym: "X-linked Ohdo syndrome" EXACT [Orphanet:293707] xref: GARD:17341 {source="MONDO:GARD"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -232591,18 +232628,18 @@ subset: ordo_inheritance_inconsistent subset: orphanet_rare {source="Orphanet:356961"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDG IIm" RELATED [OMIM:300896] +synonym: "CDG IIm" RELATED [] synonym: "CDG syndrome type IIm" EXACT [Orphanet:356961] synonym: "CDG-IIm" EXACT [Orphanet:356961] synonym: "CDG2M" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300896, Orphanet:356961] -synonym: "congenital disorder of glycosylation type 2m" EXACT [Orphanet:356961] -synonym: "congenital disorder of glycosylation type IIm" EXACT [Orphanet:356961] -synonym: "congenital disorder of glycosylation, type IIm" RELATED [GARD:0012403, MONDO:Lexical, OMIM:300896] -synonym: "congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant" EXACT [OMIM:300896, OMIM:genemap2] +synonym: "congenital disorder of glycosylation type 2m" EXACT [DOID:0070265, Orphanet:356961] +synonym: "congenital disorder of glycosylation type IIm" EXACT [DOID:0070265, Orphanet:356961] +synonym: "congenital disorder of glycosylation, type IIm" RELATED [GARD:0012403, MONDO:Lexical] +synonym: "congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant" EXACT [] synonym: "EIEE22" RELATED ABBREVIATION [GARD:0012403, MONDO:Lexical] -synonym: "epileptic encephalopathy, early infantile, 22" RELATED [GARD:0012403, MONDO:Lexical, OMIM:300896] +synonym: "epileptic encephalopathy, early infantile, 22" RELATED [GARD:0012403, MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 22; EIEE22" RELATED [GARD:0012403] -synonym: "SLC35A2-CDG" EXACT ABBREVIATION [Orphanet:356961] +synonym: "SLC35A2-CDG" EXACT ABBREVIATION [DOID:0070265, Orphanet:356961] synonym: "SLC35A2-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] xref: DOID:0070265 {source="MONDO:equivalentTo"} xref: GARD:12403 {source="MONDO:GARD"} @@ -232631,15 +232668,15 @@ subset: ordo_disorder {source="Orphanet:352675"} subset: orphanet_rare {source="Orphanet:352675"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Charcot-Marie-Tooth disease X-linked dominant type 6" EXACT [DOID:0110207, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 6" RELATED [MONDO:Lexical, OMIM:300905] -synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant" EXACT [OMIM:300905, OMIM:genemap2] -synonym: "Charcot-Marie-Tooth disease, X-linked dominant, type 6" EXACT [MONDORULE:1, OMIM:300905] +synonym: "Charcot-Marie-Tooth disease X-linked dominant type 6" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 6" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant" EXACT [] +synonym: "Charcot-Marie-Tooth disease, X-linked dominant, type 6" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 6" EXACT [DOID:0110207] -synonym: "Charcot-Marie-Tooth neuropathy, X-linked dominant, 6" RELATED [OMIM:300905] -synonym: "CMT6X" RELATED ABBREVIATION [DOID:0110207, Orphanet:352675] +synonym: "Charcot-Marie-Tooth neuropathy, X-linked dominant, 6" RELATED [] +synonym: "CMT6X" RELATED ABBREVIATION [] synonym: "CMTX6" EXACT ABBREVIATION [DOID:0110207, MONDO:Lexical, OMIM:300905, Orphanet:352675] -synonym: "X-linked Charcot-Marie-Tooth disease type 6" EXACT [DOID:0110207] +synonym: "X-linked Charcot-Marie-Tooth disease type 6" EXACT [DOID:0110207, Orphanet:352675] xref: DOID:0110207 {source="MONDO:equivalentTo"} xref: GARD:12445 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="DOID:0110207", source="Orphanet:352675", source="Orphanet:352675/attributed", source="Orphanet:352675/ntbt"} @@ -232664,10 +232701,10 @@ subset: orphanet_rare {source="Orphanet:466026"} subset: rare synonym: "anemia, nonspherocytic hemolytic, due to G6PD deficiency" EXACT [OMIM:300908] synonym: "Class I G6PD deficiency" EXACT [Orphanet:466026] -synonym: "class I glucose-6-phosphate dehydrogenase deficiency" EXACT [MONDO:0018750] +synonym: "class I glucose-6-phosphate dehydrogenase deficiency" EXACT [MONDO:0018750, Orphanet:466026] synonym: "hemolytic anaemia due to G6PD deficiency" EXACT OMO:0003005 [] -synonym: "hemolytic anemia due to G6PD deficiency" EXACT [Orphanet:466026] -synonym: "hemolytic anemia, G6PD deficient (favism), X-linked dominant" EXACT [OMIM:300908, OMIM:genemap2] +synonym: "hemolytic anemia due to G6PD deficiency" EXACT [] +synonym: "hemolytic anemia, G6PD deficient (favism), X-linked dominant" EXACT [] synonym: "severe hemolytic anaemia due to G6PD deficiency" EXACT OMO:0003005 [] synonym: "severe hemolytic anemia due to G6PD deficiency" EXACT [Orphanet:466026] xref: GARD:6520 {source="MONDO:GARD"} @@ -232696,7 +232733,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "angioedemas" EXACT [MESH:D000799] -synonym: "angioneurotic edema" NARROW [DOID:1558, MESH:D000799] +synonym: "angioneurotic edema" NARROW [MESH:D000799] synonym: "angioneurotic Edemas" EXACT [MESH:D000799] synonym: "angioneurotic oedema" NARROW OMO:0003005 [] synonym: "edema, angioneurotic" EXACT [MESH:D000799] @@ -232742,9 +232779,9 @@ subset: ordo_disorder {source="Orphanet:363654"} subset: orphanet_rare {source="Orphanet:363654"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PARKINSONISM with spasticity, X-linked" RELATED [MONDO:Lexical, OMIM:300911] -synonym: "Parkinsonism with spasticity, X-linked, X-linked recessive" EXACT [OMIM:300911, OMIM:genemap2] -synonym: "XPDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300911, Orphanet:363654] +synonym: "PARKINSONISM with spasticity, X-linked" RELATED [MONDO:Lexical] +synonym: "Parkinsonism with spasticity, X-linked, X-linked recessive" EXACT [] +synonym: "XPDS" EXACT ABBREVIATION [DOID:0112105, MONDO:Lexical, OMIM:300911, Orphanet:363654] xref: DOID:0112105 {source="MONDO:equivalentTo"} xref: GARD:17567 {source="MONDO:GARD"} xref: ICD10CM:G20 {source="Orphanet:363654", source="Orphanet:363654/attributed", source="Orphanet:363654/ntbt"} @@ -232768,12 +232805,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:85277"} subset: orphanet_rare {source="Orphanet:85277"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked 98, X-linked dominant" EXACT [OMIM:300912, OMIM:genemap2] -synonym: "intellectual disability, X-linked 98" RELATED [MONDO:Lexical, OMIM:300912] -synonym: "intellectual disability, X-linked type 98" EXACT [MONDORULE:2, OMIM:300912] -synonym: "mental retardation, X-linked 98" RELATED DEPRECATED [MONDO:Lexical, OMIM:300912] -synonym: "mental retardation, X-linked type 98" EXACT DEPRECATED [MONDORULE:2, OMIM:300912] -synonym: "MRX98" RELATED DEPRECATED [MONDO:Lexical, OMIM:300912] +synonym: "intellectual developmental disorder, X-linked 98, X-linked dominant" EXACT [] +synonym: "intellectual disability, X-linked 98" RELATED [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 98" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 98" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 98" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX98" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0112044 {source="MONDO:equivalentTo"} xref: GARD:16743 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85277", source="Orphanet:85277/attributed", source="Orphanet:85277/ntbt"} @@ -232796,10 +232833,10 @@ subset: gard_rare {source="GARD:18097", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "COL4A6 X-linked nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, X-linked 6" NARROW [MONDO:Lexical, OMIM:300914] -synonym: "deafness, X-linked 6, X-linked recessive" NARROW [OMIM:300914, OMIM:genemap2] -synonym: "deafness, X-linked type 6" NARROW [MONDORULE:1, OMIM:300914] -synonym: "DFNX6" NARROW ABBREVIATION [MONDO:Lexical, OMIM:300914] +synonym: "deafness, X-linked 6" NARROW [MONDO:Lexical] +synonym: "deafness, X-linked 6, X-linked recessive" NARROW [] +synonym: "deafness, X-linked type 6" NARROW [MONDORULE:1] +synonym: "DFNX6" NARROW ABBREVIATION [MONDO:Lexical] synonym: "hearing loss, X-linked 6" EXACT CLINGEN_LABEL [] synonym: "X-linked nonsyndromic deafness caused by mutation in COL4A6" NARROW [MONDO:design_pattern] xref: DOID:0111740 {source="MONDO:equivalentTo"} @@ -232827,11 +232864,11 @@ subset: ordo_disorder {source="Orphanet:431140"} subset: ordo_malformation_syndrome {source="Orphanet:431140"} subset: orphanet_rare {source="Orphanet:431140"} subset: rare -synonym: "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" RELATED [OMIM:300915] -synonym: "Maine microphthalmos" RELATED [OMIM:300915] -synonym: "MCOPS13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300915] -synonym: "microphthalmia, syndromic 13" RELATED [MONDO:Lexical, OMIM:300915] -synonym: "microphthalmia, syndromic type 13" EXACT [MONDORULE:2, OMIM:300915] +synonym: "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" RELATED [] +synonym: "Maine microphthalmos" RELATED [] +synonym: "MCOPS13" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microphthalmia, syndromic 13" RELATED [MONDO:Lexical] +synonym: "microphthalmia, syndromic type 13" EXACT [MONDORULE:2] synonym: "X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome" EXACT [Orphanet:431140] xref: DOID:0111811 {source="MONDO:equivalentTo"} xref: GARD:17709 {source="MONDO:GARD"} @@ -232853,7 +232890,7 @@ subset: gard_rare {source="GARD:15273", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Olmsted syndrome, X-linked" EXACT [OMIM:300918] -synonym: "Olmsted syndrome, X-linked, X-linked recessive" EXACT [OMIM:300918, OMIM:genemap2] +synonym: "Olmsted syndrome, X-linked, X-linked recessive" EXACT [] synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked" EXACT [OMIM:300918] xref: DOID:0112012 {source="MONDO:equivalentTo"} xref: GARD:15273 {source="MONDO:GARD"} @@ -232872,12 +232909,12 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="GARD:22693", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 99, X-linked recessive" EXACT [OMIM:300919, OMIM:genemap2] -synonym: "intellectual disability, X-linked 99" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300919] -synonym: "intellectual disability, X-linked type 99" EXACT [MONDORULE:2, OMIM:300919] -synonym: "mental retardation, X-linked 99" RELATED DEPRECATED [MONDO:Lexical, OMIM:300919] -synonym: "mental retardation, X-linked type 99" EXACT DEPRECATED [MONDORULE:2, OMIM:300919] -synonym: "MRX99" RELATED DEPRECATED [MONDO:Lexical, OMIM:300919] +synonym: "intellectual developmental disorder, X-linked 99, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 99" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 99" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 99" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 99" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX99" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in USP9X" EXACT [MONDO:design_pattern] synonym: "USP9X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112026 {source="MONDO:equivalentTo"} @@ -232898,13 +232935,13 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 100, X-linked recessive" EXACT [OMIM:300923, OMIM:genemap2] -synonym: "intellectual disability, X-linked 100" EXACT [MONDO:Lexical, OMIM:300923] -synonym: "intellectual disability, X-linked type 100" EXACT [MONDORULE:2, OMIM:300923] +synonym: "intellectual developmental disorder, X-linked 100, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 100" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 100" EXACT [MONDORULE:2] synonym: "KIF4A non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mental retardation, X-linked 100" RELATED DEPRECATED [MONDO:Lexical, OMIM:300923] -synonym: "mental retardation, X-linked type 100" EXACT DEPRECATED [MONDORULE:2, OMIM:300923] -synonym: "MRX100" RELATED DEPRECATED [MONDO:Lexical, OMIM:300923] +synonym: "mental retardation, X-linked 100" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 100" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX100" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in KIF4A" EXACT [MONDO:design_pattern] xref: DOID:0112040 {source="MONDO:equivalentTo"} xref: MEDGEN:855516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -232923,13 +232960,13 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="GARD:22694", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 101, X-linked recessive" EXACT [OMIM:300928, OMIM:genemap2] -synonym: "intellectual disability, X-linked 101" EXACT [MONDO:Lexical, OMIM:300928] -synonym: "intellectual disability, X-linked type 101" EXACT [MONDORULE:2, OMIM:300928] -synonym: "mental retardation, X-linked 101" RELATED DEPRECATED [MONDO:Lexical, OMIM:300928] -synonym: "mental retardation, X-linked type 101" EXACT DEPRECATED [MONDORULE:2, OMIM:300928] +synonym: "intellectual developmental disorder, X-linked 101, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 101" EXACT [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 101" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 101" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 101" EXACT DEPRECATED [MONDORULE:2] synonym: "MID2 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MRX101" RELATED DEPRECATED [MONDO:Lexical, OMIM:300928] +synonym: "MRX101" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in MID2" EXACT [MONDO:design_pattern] xref: DOID:0112048 {source="MONDO:equivalentTo"} xref: GARD:22694 {source="MONDO:GARD"} @@ -232953,7 +232990,7 @@ subset: orphanet_rare {source="Orphanet:370927"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carbohydrate deficient glycoprotein syndrome type Iy" EXACT [Orphanet:370927] -synonym: "CDG 1Y" RELATED [OMIM:300934] +synonym: "CDG 1Y" RELATED [] synonym: "CDG Iy" RELATED [GARD:0012405] synonym: "CDG syndrome type Iy" EXACT [Orphanet:370927] synonym: "CDG-Iy" EXACT [Orphanet:370927] @@ -232961,8 +232998,8 @@ synonym: "CDG1Y" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300934, Orphanet:370927 synonym: "CDGIy" RELATED [GARD:0012405] synonym: "congenital disorder of glycosylation type 1y" EXACT [Orphanet:370927] synonym: "congenital disorder of glycosylation type Iy" EXACT [Orphanet:370927] -synonym: "congenital disorder of glycosylation, type Iy" RELATED [MONDO:Lexical, OMIM:300934] -synonym: "congenital disorder of glycosylation, type Iy, X-linked recessive" EXACT [OMIM:300934, OMIM:genemap2] +synonym: "congenital disorder of glycosylation, type Iy" RELATED [MONDO:Lexical] +synonym: "congenital disorder of glycosylation, type Iy, X-linked recessive" EXACT [] synonym: "SSR4-CDG" EXACT ABBREVIATION [Orphanet:370927] synonym: "SSR4-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] xref: DOID:0080574 {source="MONDO:equivalentTo"} @@ -232988,13 +233025,13 @@ subset: gard_rare {source="GARD:18433", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype {source="Orphanet:448372"} subset: rare -synonym: "chromosome Xq26 microduplication syndrome" RELATED [OMIM:300942] -synonym: "chromosome Xq26.3 DUPLICATION syndrome" RELATED [OMIM:300942] -synonym: "chromosome xq26.3 duplication syndrome, X-linked dominant" EXACT [OMIM:300942, OMIM:genemap2] -synonym: "familial infantile gigantism due to dup(X)q(26)" EXACT [Orphanet:448372] -synonym: "familial infantile gigantism due to Xq26 microduplication" EXACT [Orphanet:448372] -synonym: "X-LAG (X-linked acrogigantism) due to dup(X)q(26)" EXACT [Orphanet:448372] -synonym: "X-linked acrogigantism" RELATED [OMIM:300942] +synonym: "chromosome Xq26 microduplication syndrome" RELATED [] +synonym: "chromosome Xq26.3 DUPLICATION syndrome" RELATED [] +synonym: "chromosome xq26.3 duplication syndrome, X-linked dominant" EXACT [] +synonym: "familial infantile gigantism due to dup(X)q(26)" EXACT [] +synonym: "familial infantile gigantism due to Xq26 microduplication" EXACT [] +synonym: "X-LAG (X-linked acrogigantism) due to dup(X)q(26)" EXACT [] +synonym: "X-linked acrogigantism" RELATED [] xref: GARD:18433 {source="MONDO:GARD"} xref: ICD10CM:E22.0 {source="Orphanet:448372", source="Orphanet:448372/attributed", source="Orphanet:448372/ntbt"} xref: MEDGEN:856021 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -233018,16 +233055,16 @@ def: "Any pituitary gland adenoma in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15274", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "acromegaly due to pituitary adenoma 2" RELATED [OMIM:300943] -synonym: "acromegaly, X-linked" RELATED [OMIM:300943] +synonym: "acromegaly due to pituitary adenoma 2" RELATED [] +synonym: "acromegaly, X-linked" RELATED [] synonym: "GPR101 pituitary gland adenoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PAGH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300943] -synonym: "PITA2" RELATED ABBREVIATION [OMIM:300943] -synonym: "pituitary adenoma 2, GH-secreting" EXACT [OMIM:300943, OMIM:genemap2] -synonym: "pituitary adenoma 2, Growth hormone-secreting" RELATED [OMIM:300943] -synonym: "pituitary adenoma 2, growth hormone-secreting" RELATED [OMIM:300943] -synonym: "pituitary adenoma, growth hormone-secreting, 2" EXACT [MONDO:Lexical, OMIM:300943] -synonym: "pituitary adenoma, Growth hormone-secreting, type 2" EXACT [MONDORULE:1, OMIM:300943] +synonym: "PAGH2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PITA2" RELATED ABBREVIATION [] +synonym: "pituitary adenoma 2, GH-secreting" EXACT [] +synonym: "pituitary adenoma 2, Growth hormone-secreting" RELATED [] +synonym: "pituitary adenoma 2, growth hormone-secreting" RELATED [] +synonym: "pituitary adenoma, growth hormone-secreting, 2" EXACT [MONDO:Lexical] +synonym: "pituitary adenoma, Growth hormone-secreting, type 2" EXACT [MONDORULE:1] synonym: "pituitary gland adenoma caused by mutation in GPR101" EXACT [MONDO:design_pattern] xref: DOID:0112007 {source="MONDO:equivalentTo"} xref: GARD:15274 {source="MONDO:GARD"} @@ -233049,11 +233086,11 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15275", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300946] +synonym: "DBA14" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessive" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan anaemia caused by mutation in TSR2" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" EXACT [MONDO:Lexical, OMIM:300946] -synonym: "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive" EXACT [OMIM:300946, OMIM:genemap2] +synonym: "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" EXACT [DOID:0111897, MONDO:Lexical, OMIM:300946] +synonym: "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive" EXACT [] synonym: "Diamond-Blackfan anemia caused by mutation in TSR2" EXACT [MONDO:design_pattern] synonym: "TSR2 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "TSR2 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -233075,11 +233112,11 @@ def: "Any microphthalmia with linear skin defects syndrome in which the cause of subset: gard_rare {source="GARD:15276", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "linear skin defects with cardiomyopathy and Other congenital anomalies" RELATED [OMIM:300952] -synonym: "linear skin defects with multiple congenital anomalies 3" EXACT [MONDO:Lexical, OMIM:300952] -synonym: "linear skin defects with multiple congenital anomalies 3, X-linked dominant" EXACT [OMIM:300952, OMIM:genemap2] -synonym: "linear skin defects with multiple congenital anomalies type 3" EXACT [MONDORULE:1, OMIM:300952] -synonym: "LSDMCA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300952] +synonym: "linear skin defects with cardiomyopathy and Other congenital anomalies" RELATED [] +synonym: "linear skin defects with multiple congenital anomalies 3" EXACT [DOID:0111876, MONDO:Lexical, OMIM:300952] +synonym: "linear skin defects with multiple congenital anomalies 3, X-linked dominant" EXACT [] +synonym: "linear skin defects with multiple congenital anomalies type 3" EXACT [MONDORULE:1] +synonym: "LSDMCA3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11" EXACT [MONDO:design_pattern] synonym: "NDUFB11 microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111876 {source="MONDO:equivalentTo"} @@ -233106,7 +233143,7 @@ subset: rare synonym: "nonphotosensitive trichothiodystrophy caused by mutation in RNF113A" EXACT [MONDO:design_pattern] synonym: "RNF113A nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "trichothiodystrophy 5, nonphotosensitive" EXACT [MONDO:Lexical, OMIM:300953] -synonym: "TTD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300953] +synonym: "TTD5" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111868 {source="MONDO:equivalentTo"} xref: GARD:15277 {source="MONDO:GARD"} xref: MEDGEN:899675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -233127,14 +233164,14 @@ subset: ordo_disorder {source="Orphanet:457240"} subset: ordo_malformation_syndrome {source="Orphanet:457240"} subset: orphanet_rare {source="Orphanet:457240"} subset: rare -synonym: "intellectual developmental disorder, X-linked 12, X-linked recessive" EXACT [OMIM:300957, OMIM:genemap2] -synonym: "intellectual disability, X-linked 12" RELATED [MONDO:Lexical, OMIM:300957] -synonym: "intellectual disability, X-linked 35" RELATED [OMIM:300957] -synonym: "intellectual disability, X-linked type 12" EXACT [MONDORULE:2, OMIM:300957] -synonym: "mental retardation, X-linked 12" RELATED DEPRECATED [MONDO:Lexical, OMIM:300957] -synonym: "mental retardation, X-linked 35" RELATED DEPRECATED [OMIM:300957] -synonym: "mental retardation, X-linked type 12" EXACT DEPRECATED [MONDORULE:2, OMIM:300957] -synonym: "MRX12" RELATED DEPRECATED [MONDO:Lexical, OMIM:300957] +synonym: "intellectual developmental disorder, X-linked 12, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 12" RELATED [MONDO:Lexical] +synonym: "intellectual disability, X-linked 35" RELATED [] +synonym: "intellectual disability, X-linked type 12" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 12" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked 35" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked type 12" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX12" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0112056 {source="MONDO:equivalentTo"} xref: GARD:17800 {source="MONDO:GARD"} xref: MEDGEN:901885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -233157,12 +233194,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DDX3X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DDX3X-related intellectual disability" RELATED [GARD:0012715] -synonym: "intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant" EXACT [OMIM:300958, OMIM:genemap2] -synonym: "intellectual disability, X-linked 102" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:300958] -synonym: "intellectual disability, X-linked type 102" EXACT [MONDORULE:2, OMIM:300958] -synonym: "mental retardation, X-linked 102" RELATED DEPRECATED [MONDO:Lexical, OMIM:300958] -synonym: "mental retardation, X-linked type 102" EXACT DEPRECATED [MONDORULE:2, OMIM:300958] -synonym: "MRX102" RELATED DEPRECATED [MONDO:Lexical, OMIM:300958] +synonym: "intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant" EXACT [] +synonym: "intellectual disability, X-linked 102" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 102" EXACT [MONDORULE:2] +synonym: "mental retardation, X-linked 102" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 102" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX102" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in DDX3X" EXACT [MONDO:design_pattern] xref: MEDGEN:1715418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C129931 {source="MONDO:equivalentTo"} @@ -233186,11 +233223,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:401973"} subset: orphanet_rare {source="Orphanet:401973"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Male EBP disorder with neurologic defects" RELATED [OMIM:300960] -synonym: "Male EBP disorder with neurological defects" EXACT [Orphanet:401973] -synonym: "MEND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300960] -synonym: "MEND syndrome" EXACT [MONDO:Lexical, OMIM:300960] -synonym: "MEND syndrome, X-linked recessive" EXACT [OMIM:300960, OMIM:genemap2] +synonym: "Male EBP disorder with neurologic defects" RELATED [] +synonym: "Male EBP disorder with neurological defects" EXACT [DOID:0111865, Orphanet:401973] +synonym: "MEND" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "MEND syndrome" EXACT [DOID:0111865, MONDO:Lexical, OMIM:300960, Orphanet:401973] +synonym: "MEND syndrome, X-linked recessive" EXACT [] xref: DOID:0111865 {source="MONDO:equivalentTo"} xref: GARD:17666 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:401973/attributed", source="Orphanet:401973/ntbt", source="Orphanet:401973"} @@ -233214,10 +233251,10 @@ subset: gard_rare {source="GARD:15278", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CCDC22 Ritscher-Schinzel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Ritscher-Schinzel syndrome 2" EXACT [OMIM:300963] -synonym: "Ritscher-Schinzel syndrome 2, X-linked recessive" EXACT [OMIM:300963, OMIM:genemap2] +synonym: "Ritscher-Schinzel syndrome 2" EXACT [DOID:0060572, OMIM:300963] +synonym: "Ritscher-Schinzel syndrome 2, X-linked recessive" EXACT [] synonym: "Ritscher-Schinzel syndrome caused by mutation in CCDC22" EXACT [MONDO:design_pattern] -synonym: "Ritscher-Schinzel syndrome type 2" EXACT [DOID:0060572, MONDORULE:1, OMIM:300963] +synonym: "Ritscher-Schinzel syndrome type 2" EXACT [MONDORULE:1] synonym: "RTSC2" EXACT ABBREVIATION [OMIM:300963] xref: DOID:0060572 {source="MONDO:equivalentTo"} xref: GARD:15278 {source="MONDO:GARD"} @@ -233239,11 +233276,11 @@ def: "Any X-linked syndromic intellectual disability in which the cause of the d subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked syndromic 33, X-linked recessive" EXACT [OMIM:300966, OMIM:genemap2] -synonym: "intellectual disability, X-linked, syndromic 33" EXACT [OMIM:300966] -synonym: "intellectual disability, X-linked, syndromic type 33" EXACT [MONDORULE:2, OMIM:300966] +synonym: "intellectual developmental disorder, X-linked syndromic 33, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked, syndromic 33" EXACT [] +synonym: "intellectual disability, X-linked, syndromic type 33" EXACT [MONDORULE:2] synonym: "mental retardation, X-linked, syndromic 33" EXACT DEPRECATED [OMIM:300966] -synonym: "mental retardation, X-linked, syndromic type 33" EXACT DEPRECATED [MONDORULE:2, OMIM:300966] +synonym: "mental retardation, X-linked, syndromic type 33" EXACT DEPRECATED [MONDORULE:2] synonym: "MRXS33" EXACT ABBREVIATION [OMIM:300966] synonym: "TAF1 X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "X-linked syndromic intellectual disability caused by mutation in TAF1" EXACT [MONDO:design_pattern] @@ -233267,19 +233304,19 @@ subset: ordo_disorder {source="Orphanet:466791"} subset: ordo_malformation_syndrome {source="Orphanet:466791"} subset: orphanet_rare {source="Orphanet:466791"} subset: rare -synonym: "intellectual developmental disorder, X-linked syndromic 34" EXACT [OMIM:300967, OMIM:genemap2] -synonym: "intellectual disability, X-linked, syndromic 34" EXACT [DOID:0060817, OMIM:300967] -synonym: "intellectual disability, X-linked, syndromic type 34" EXACT [MONDORULE:2, OMIM:300967] -synonym: "intellectual disability, X-linked, syndromic, Mircsof-Langouet type" RELATED [OMIM:300967] +synonym: "intellectual developmental disorder, X-linked syndromic 34" EXACT [] +synonym: "intellectual disability, X-linked, syndromic 34" EXACT [] +synonym: "intellectual disability, X-linked, syndromic type 34" EXACT [MONDORULE:2] +synonym: "intellectual disability, X-linked, syndromic, Mircsof-Langouet type" RELATED [] synonym: "macrocephaly-intellectual disability-left ventricular non compaction syndrome" EXACT [DOID:0060817, Orphanet:466791] synonym: "mental retardation, X-linked, syndromic 34" EXACT DEPRECATED [DOID:0060817, OMIM:300967] -synonym: "mental retardation, X-linked, syndromic type 34" EXACT DEPRECATED [MONDORULE:2, OMIM:300967] -synonym: "mental retardation, X-linked, syndromic, Mircsof-Langouet type" RELATED DEPRECATED [OMIM:300967] +synonym: "mental retardation, X-linked, syndromic type 34" EXACT DEPRECATED [MONDORULE:2] +synonym: "mental retardation, X-linked, syndromic, Mircsof-Langouet type" RELATED DEPRECATED [] synonym: "MRXS34" EXACT ABBREVIATION [DOID:0060817, OMIM:300967] synonym: "MRXSML" EXACT ABBREVIATION [DOID:0060817] synonym: "NONO X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "syndromic X-linked intellectual disability Mircsof-Langouet type" EXACT [DOID:0060817] -synonym: "syndromic X-linked intellectual disability type 34" EXACT [DOID:0060817, MONDORULE:2] +synonym: "syndromic X-linked intellectual disability Mircsof-Langouet type" EXACT [] +synonym: "syndromic X-linked intellectual disability type 34" EXACT [MONDORULE:2] synonym: "syndromic X-linked mental retardation Mircsof-Langouet type" EXACT DEPRECATED [DOID:0060817] synonym: "X-linked syndromic intellectual disability caused by mutation in NONO" EXACT [MONDO:design_pattern] xref: DOID:0060817 {source="MONDO:equivalentTo"} @@ -233303,10 +233340,10 @@ def: "Any X-linked syndromic intellectual disability in which the cause of the d subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominant" EXACT [OMIM:300968, OMIM:genemap2] -synonym: "intellectual disability, X-linked 99, syndromic, female-restricted" EXACT [OMIM:300968] +synonym: "intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominant" EXACT [] +synonym: "intellectual disability, X-linked 99, syndromic, female-restricted" EXACT [] synonym: "mental retardation, X-linked 99, syndromic, female-restricted" EXACT DEPRECATED [OMIM:300968] -synonym: "MRXS99F" EXACT ABBREVIATION [OMIM:300968] +synonym: "MRXS99F" EXACT ABBREVIATION [DOID:0112025, OMIM:300968] synonym: "USP9X X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "X-linked syndromic intellectual disability caused by mutation in USP9X" EXACT [MONDO:design_pattern] xref: DOID:0112025 {source="MONDO:equivalentTo"} @@ -233331,7 +233368,7 @@ subset: rare synonym: "BARTS5" EXACT ABBREVIATION [DOID:0110147, OMIM:300971] synonym: "Bartter syndrome caused by mutation in MAGED2" EXACT [MONDO:design_pattern] synonym: "Bartter syndrome, type 5, antenatal, transient" EXACT [DOID:0110147, OMIM:300971] -synonym: "Bartter syndrome, type 5, antenatal, transient, X-linked recessive" EXACT [OMIM:300971, OMIM:genemap2] +synonym: "Bartter syndrome, type 5, antenatal, transient, X-linked recessive" EXACT [] synonym: "MAGED2 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110147 {source="MONDO:equivalentTo"} xref: GARD:22308 {source="MONDO:GARD"} @@ -233354,12 +233391,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ATP6AP1 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "IMD47" EXACT ABBREVIATION [OMIM:300972] -synonym: "immunodeficiency 47" EXACT [OMIM:300972] -synonym: "immunodeficiency 47, X-linked recessive" EXACT [OMIM:300972, OMIM:genemap2] +synonym: "IMD47" EXACT ABBREVIATION [DOID:0112002, OMIM:300972] +synonym: "immunodeficiency 47" EXACT [DOID:0112002, OMIM:300972] +synonym: "immunodeficiency 47, X-linked recessive" EXACT [] synonym: "immunodeficiency 47; IMD47" EXACT [] -synonym: "immunodeficiency and hepatopathy with or without neurologic features" RELATED [OMIM:300972] -synonym: "immunodeficiency type 47" EXACT [MONDORULE:2, OMIM:300972] +synonym: "immunodeficiency and hepatopathy with or without neurologic features" RELATED [] +synonym: "immunodeficiency type 47" EXACT [MONDORULE:2] synonym: "primary immunodeficiency disease caused by mutation in ATP6AP1" EXACT [MONDO:design_pattern] xref: DOID:0112002 {source="MONDO:equivalentTo"} xref: MEDGEN:934786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -233384,8 +233421,8 @@ subset: orphanet_rare {source="Orphanet:3041"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "early balding, patella luxation, acromicria and hypogonadism" RELATED [GARD:0000257] -synonym: "early balding, patella luxation, acromicria, and hypogonadism" RELATED [OMIM:300977] -synonym: "SCHOLTE syndrome" RELATED [OMIM:300977] +synonym: "early balding, patella luxation, acromicria, and hypogonadism" RELATED [] +synonym: "SCHOLTE syndrome" RELATED [] synonym: "Scholte syndrome" EXACT [OMIM:300977] synonym: "Scholte-Begeer-van Essen syndrome" EXACT [Orphanet:3041] synonym: "SHLTS" EXACT ABBREVIATION [OMIM:300977] @@ -233409,14 +233446,14 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="GARD:22695", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, X-linked 61" EXACT [OMIM:300978] -synonym: "intellectual disability, X-linked type 61" EXACT [MONDORULE:2, OMIM:300978] +synonym: "intellectual disability, X-linked 61" EXACT [] +synonym: "intellectual disability, X-linked type 61" EXACT [MONDORULE:2] synonym: "mental retardation, X-linked 61" EXACT DEPRECATED [OMIM:300978] -synonym: "mental retardation, X-linked type 61" EXACT DEPRECATED [MONDORULE:2, OMIM:300978] -synonym: "MRX61" EXACT ABBREVIATION [OMIM:300978] +synonym: "mental retardation, X-linked type 61" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX61" EXACT ABBREVIATION [DOID:0112042] synonym: "non-syndromic X-linked intellectual disability caused by mutation in RLIM" EXACT [MONDO:design_pattern] synonym: "RLIM non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Tonne-Kalscheuer syndrome" EXACT [OMIM:300978, OMIM:genemap2] +synonym: "Tonne-Kalscheuer syndrome" EXACT [DOID:0112042, OMIM:300978] xref: DOID:0112042 {source="MONDO:equivalentTo"} xref: GARD:22695 {source="MONDO:GARD"} xref: MEDGEN:924419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -233437,8 +233474,8 @@ subset: ordo_disorder {source="Orphanet:521258"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:521258"} subset: rare -synonym: "Xq25 duplication syndrome" EXACT [OMIM:300979, OMIM:genemap2] -synonym: "Xq25 triplication syndrome" RELATED [OMIM:300979] +synonym: "Xq25 duplication syndrome" EXACT [] +synonym: "Xq25 triplication syndrome" RELATED [] xref: GARD:17955 {source="MONDO:GARD"} xref: MEDGEN:935016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C177544 {source="MONDO:equivalentTo"} @@ -233461,13 +233498,13 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 103, X-linked recessive" EXACT [OMIM:300982, OMIM:genemap2] -synonym: "intellectual disability, X-linked 103" EXACT [OMIM:300982] -synonym: "intellectual disability, X-linked type 103" EXACT [MONDORULE:2, OMIM:300982] +synonym: "intellectual developmental disorder, X-linked 103, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 103" EXACT [] +synonym: "intellectual disability, X-linked type 103" EXACT [MONDORULE:2] synonym: "KLHL15 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "mental retardation, X-linked 103" EXACT DEPRECATED [OMIM:300982] -synonym: "mental retardation, X-linked type 103" EXACT DEPRECATED [MONDORULE:2, OMIM:300982] -synonym: "MRX103" EXACT ABBREVIATION [OMIM:300982] +synonym: "mental retardation, X-linked type 103" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX103" EXACT ABBREVIATION [DOID:0112020] synonym: "non-syndromic X-linked intellectual disability caused by mutation in KLHL15" EXACT [MONDO:design_pattern] xref: DOID:0112020 {source="MONDO:equivalentTo"} xref: MEDGEN:934785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -233488,12 +233525,12 @@ subset: gard_rare {source="GARD:22696", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FRMPD4 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, X-linked 104" EXACT [OMIM:300983, OMIM:genemap2] -synonym: "intellectual disability, X-linked 104" EXACT [OMIM:300983] -synonym: "intellectual disability, X-linked type 104" EXACT [MONDORULE:2, OMIM:300983] +synonym: "intellectual developmental disorder, X-linked 104" EXACT [OMIM:300983] +synonym: "intellectual disability, X-linked 104" EXACT [] +synonym: "intellectual disability, X-linked type 104" EXACT [MONDORULE:2] synonym: "mental retardation, X-linked 104" EXACT DEPRECATED [OMIM:300983] -synonym: "mental retardation, X-linked type 104" EXACT DEPRECATED [MONDORULE:2, OMIM:300983] -synonym: "MRX104" EXACT ABBREVIATION [OMIM:300983] +synonym: "mental retardation, X-linked type 104" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX104" EXACT ABBREVIATION [DOID:0112018] synonym: "non-syndromic X-linked intellectual disability caused by mutation in FRMPD4" EXACT [MONDO:design_pattern] xref: DOID:0112018 {source="MONDO:equivalentTo"} xref: GARD:22696 {source="MONDO:GARD"} @@ -233513,12 +233550,12 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t subset: gard_rare {source="GARD:22697", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 105, X-linked recessive" EXACT [OMIM:300984, OMIM:genemap2] -synonym: "intellectual disability, X-linked 105" EXACT [OMIM:300984] -synonym: "intellectual disability, X-linked type 105" EXACT [MONDORULE:2, OMIM:300984] +synonym: "intellectual developmental disorder, X-linked 105, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 105" EXACT [] +synonym: "intellectual disability, X-linked type 105" EXACT [MONDORULE:2] synonym: "mental retardation, X-linked 105" EXACT DEPRECATED [OMIM:300984] -synonym: "mental retardation, X-linked type 105" EXACT DEPRECATED [MONDORULE:2, OMIM:300984] -synonym: "MRX105" EXACT ABBREVIATION [OMIM:300984] +synonym: "mental retardation, X-linked type 105" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRX105" EXACT ABBREVIATION [DOID:0112036] synonym: "non-syndromic X-linked intellectual disability caused by mutation in USP27X" EXACT [MONDO:design_pattern] synonym: "USP27X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112036 {source="MONDO:equivalentTo"} @@ -233538,8 +233575,8 @@ name: vas deferens, congenital bilateral aplasia of, X-linked subset: gard_rare {source="GARD:15279", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CBAVDX" EXACT ABBREVIATION [OMIM:300985] -synonym: "congenital bilateral absence of vas deferens, X-linked" EXACT [OMIM:300985, OMIM:genemap2] +synonym: "CBAVDX" EXACT ABBREVIATION [DOID:0111863, OMIM:300985] +synonym: "congenital bilateral absence of vas deferens, X-linked" EXACT [] synonym: "vas deferens, congenital bilateral aplasia of, X-linked" EXACT [OMIM:300985] synonym: "vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX" EXACT [] xref: DOID:0111863 {source="MONDO:equivalentTo"} @@ -233560,10 +233597,10 @@ subset: ordo_disorder {source="Orphanet:662198"} subset: orphanet_rare {source="Orphanet:662198"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant" EXACT [OMIM:300986, OMIM:genemap2] -synonym: "intellectual disability, X-linked, syndromic, Bain type" EXACT [OMIM:300986] +synonym: "intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant" EXACT [] +synonym: "intellectual disability, X-linked, syndromic, Bain type" EXACT [] synonym: "mental retardation, X-linked, syndromic, Bain type" EXACT DEPRECATED [OMIM:300986] -synonym: "MRXSB" EXACT ABBREVIATION [OMIM:300986] +synonym: "MRXSB" EXACT ABBREVIATION [DOID:0070538, OMIM:300986] xref: DOID:0070538 {source="MONDO:equivalentTo"} xref: GARD:13442 {source="MONDO:GARD"} xref: MEDGEN:934781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -233592,13 +233629,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:504530"} subset: orphanet_rare {source="Orphanet:504530"} subset: rare -synonym: "CID due to Moesin deficiency" EXACT [Orphanet:504530] -synonym: "IMD50" EXACT ABBREVIATION [OMIM:300988] -synonym: "immunodeficiency 50" EXACT [OMIM:300988] -synonym: "immunodeficiency 50, X-linked recessive" RELATED [OMIM:300988] -synonym: "immunodeficiency type 50" EXACT [MONDORULE:2, OMIM:300988] -synonym: "MSN-related combined immunodeficiency" EXACT [Orphanet:504530] -synonym: "X-linked Moesin-associated immunodeficiency" EXACT [Orphanet:504530] +synonym: "CID due to Moesin deficiency" EXACT [DOID:0112001, Orphanet:504530] +synonym: "IMD50" EXACT ABBREVIATION [DOID:0112001, OMIM:300988] +synonym: "immunodeficiency 50" EXACT [DOID:0112001, OMIM:300988] +synonym: "immunodeficiency 50, X-linked recessive" RELATED [] +synonym: "immunodeficiency type 50" EXACT [MONDORULE:2] +synonym: "MSN-related combined immunodeficiency" EXACT [DOID:0112001, Orphanet:504530] +synonym: "X-linked Moesin-associated immunodeficiency" EXACT [DOID:0112001, Orphanet:504530] xref: DOID:0112001 {source="MONDO:equivalentTo"} xref: GARD:17939 {source="MONDO:GARD"} xref: MEDGEN:1799546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -233619,9 +233656,9 @@ name: Meester-Loeys syndrome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Meester-Loeys syndrome" EXACT [OMIM:300989] +synonym: "Meester-Loeys syndrome" EXACT [DOID:0111861, NCIT:C187989, OMIM:300989] synonym: "Meester-Loeys syndrome; MRLS" EXACT [] -synonym: "MRLS" EXACT ABBREVIATION [OMIM:300989] +synonym: "MRLS" EXACT ABBREVIATION [DOID:0111861, NCIT:C187989, OMIM:300989] xref: DOID:0111861 {source="MONDO:equivalentTo"} xref: MEDGEN:934778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C187989 {source="MONDO:equivalentTo"} @@ -233639,9 +233676,9 @@ name: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinos subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MFHIEN" EXACT ABBREVIATION [OMIM:300990] -synonym: "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" EXACT [OMIM:300990] -synonym: "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive" EXACT [OMIM:300990, OMIM:genemap2] +synonym: "MFHIEN" EXACT ABBREVIATION [DOID:0111859, OMIM:300990] +synonym: "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" EXACT [DOID:0111859, OMIM:300990] +synonym: "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive" EXACT [] synonym: "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN" EXACT [] xref: DOID:0111859 {source="MONDO:equivalentTo"} xref: MEDGEN:934777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -233658,10 +233695,10 @@ def: "Any primary ciliary dyskinesia in which the cause of the disease is a muta subset: gard_rare {source="GARD:15280", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CILD36" EXACT ABBREVIATION [OMIM:300991] -synonym: "ciliary dyskinesia, primary, 36, with or without situs inversus" RELATED [OMIM:300991] +synonym: "CILD36" EXACT ABBREVIATION [DOID:0111850, OMIM:300991] +synonym: "ciliary dyskinesia, primary, 36, with or without situs inversus" RELATED [] synonym: "ciliary dyskinesia, primary, 36, X-linked" EXACT [OMIM:300991] -synonym: "ciliary dyskinesia, primary, 36, X-linked, X-linked recessive" EXACT [OMIM:300991, OMIM:genemap2] +synonym: "ciliary dyskinesia, primary, 36, X-linked, X-linked recessive" EXACT [] synonym: "ciliary dyskinesia, primary, 36, X-linked; CILD36" EXACT [] synonym: "PIH1D3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia caused by mutation in PIH1D3" EXACT [MONDO:design_pattern] @@ -233687,17 +233724,17 @@ subset: ordo_disorder {source="Orphanet:906"} subset: orphanet_rare {source="Orphanet:906"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Aldrich syndrome" RELATED [OMIM:301000] +synonym: "Aldrich syndrome" RELATED [] synonym: "eczema thrombocytopenia immunodeficiency syndrome" RELATED [GARD:0007895] synonym: "eczema-thrombocytopenia-immunodeficiency syndrome" EXACT [OMIM:301000, Orphanet:906] synonym: "Imd 2" RELATED [GARD:0007895] synonym: "immunodeficiency 2" EXACT [OMIM:301000] synonym: "WAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:301000, Orphanet:906] -synonym: "Wiskott Aldrich syndrome" EXACT [GARD:0007895] +synonym: "Wiskott Aldrich syndrome" EXACT [GARD:0007895, NCIT:C3448] synonym: "Wiskott syndrome" EXACT [DOID:9169] -synonym: "Wiskott-Aldrich syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:301000] +synonym: "Wiskott-Aldrich syndrome" EXACT CLINGEN_LABEL [DOID:9169, ICD10CM:D82.0, icd11.foundation:168952525, MONDO:Lexical, NCIT:C3448, OMIM:301000, Orphanet:906] synonym: "Wiskott-Aldrich syndrome 1" EXACT [OMIM:301000] -synonym: "Wiskott-Aldrich syndrome, X-linked recessive" EXACT [OMIM:301000, OMIM:genemap2] +synonym: "Wiskott-Aldrich syndrome, X-linked recessive" EXACT [] xref: DOID:9169 {source="MONDO:equivalentTo"} xref: GARD:7895 {source="MONDO:GARD"} xref: ICD10CM:D82.0 {source="Orphanet:906/e", source="Orphanet:906/specific", source="MONDO:equivalentTo", source="Orphanet:906", source="DOID:9169"} @@ -233740,24 +233777,24 @@ subset: rare synonym: "Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked" RELATED [GARD:0005864] synonym: "Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked" RELATED DEPRECATED [GARD:0005864] synonym: "Alpha Thalassemia X-linked Intellectual Disability Syndrome" EXACT [NORD:753] -synonym: "Alpha thalassemia X-linked intellectual disability syndrome" EXACT [NCIT:C118631] +synonym: "Alpha thalassemia X-linked intellectual disability syndrome" EXACT [] synonym: "Alpha thalassemia X-linked mental retardation syndrome" EXACT DEPRECATED [NCIT:C118631] -synonym: "alpha thalassemia-X-linked intellectual disability syndrome" EXACT CLINGEN_LABEL [] -synonym: "Alpha thalassemia/intellectual disability syndrome X-linked" EXACT [NCIT:C118631] +synonym: "alpha thalassemia-X-linked intellectual disability syndrome" EXACT CLINGEN_LABEL [DOID:0110030] +synonym: "Alpha thalassemia/intellectual disability syndrome X-linked" EXACT [] synonym: "Alpha thalassemia/mental retardation syndrome X-linked" EXACT DEPRECATED [NCIT:C118631] synonym: "Alpha-thalassemia X-linked intellectual disability syndrome" RELATED [GARD:0005864] -synonym: "Alpha-thalassemia-X-linked intellectual disability syndrome" RELATED [Orphanet:847] -synonym: "alpha-thalassemia/intellectual disability syndrome nondeletion type" EXACT [DOID:0110030] -synonym: "Alpha-thalassemia/intellectual disability syndrome, Nondeletion type" RELATED [OMIM:301040] -synonym: "ALPHA-thalassemia/intellectual disability syndrome, X-linked" RELATED [MONDO:Lexical, OMIM:301040] +synonym: "Alpha-thalassemia-X-linked intellectual disability syndrome" RELATED [] +synonym: "alpha-thalassemia/intellectual disability syndrome nondeletion type" EXACT [] +synonym: "Alpha-thalassemia/intellectual disability syndrome, Nondeletion type" RELATED [] +synonym: "ALPHA-thalassemia/intellectual disability syndrome, X-linked" RELATED [MONDO:Lexical] synonym: "alpha-thalassemia/mental retardation syndrome nondeletion type" EXACT DEPRECATED [DOID:0110030] -synonym: "Alpha-thalassemia/mental retardation syndrome, Nondeletion type" RELATED DEPRECATED [OMIM:301040] -synonym: "ALPHA-thalassemia/mental retardation syndrome, X-linked" RELATED DEPRECATED [MONDO:Lexical, OMIM:301040] -synonym: "alpha-thalassemia/mental retardation syndrome, X-linked dominant" EXACT [OMIM:301040, OMIM:genemap2] -synonym: "ATR, Nondeletion type" RELATED [OMIM:301040] -synonym: "ATR, nondeletion type" EXACT [DOID:0110030] +synonym: "Alpha-thalassemia/mental retardation syndrome, Nondeletion type" RELATED DEPRECATED [] +synonym: "ALPHA-thalassemia/mental retardation syndrome, X-linked" RELATED DEPRECATED [MONDO:Lexical] +synonym: "alpha-thalassemia/mental retardation syndrome, X-linked dominant" EXACT [] +synonym: "ATR, Nondeletion type" RELATED [] +synonym: "ATR, nondeletion type" EXACT [DOID:0110030, OMIM:301040] synonym: "ATR-X syndrome" EXACT [DOID:0110030, OMIM:301040, Orphanet:847] -synonym: "ATRX" RELATED DEPRECATED [MONDO:Lexical, OMIM:301040] +synonym: "ATRX" RELATED DEPRECATED [MONDO:Lexical] synonym: "ATRX syndrome" RELATED [GARD:0005864] synonym: "XLMR hypotonic face syndrome" RELATED [GARD:0005864] xref: DOID:0110030 {source="MONDO:equivalentTo"} @@ -233796,14 +233833,14 @@ subset: ordo_etiological_subtype {source="Orphanet:88917"} subset: ordo_subtype_of_a_disorder {source="Orphanet:88917"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alport syndrome 1, X-linked, X-linked dominant" EXACT [OMIM:301050, OMIM:genemap2] -synonym: "Alport syndrome, X-linked" EXACT [MONDO:Lexical, MONDO:patterns/x_linked, OMIM:301050] -synonym: "ATS" RELATED ABBREVIATION [DOID:0110034, MONDO:Lexical, OMIM:301050] +synonym: "Alport syndrome 1, X-linked, X-linked dominant" EXACT [] +synonym: "Alport syndrome, X-linked" EXACT [MONDO:Lexical, MONDO:patterns/x_linked] +synonym: "ATS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "congenital hereditary hematuria" RELATED [GARD:0005785] synonym: "hemorrhagic familial nephritis" RELATED [GARD:0005785] synonym: "hemorrhagic hereditary nephritis" RELATED [GARD:0005785] synonym: "nephropathy and deafness, X-linked" EXACT [DOID:0110034, OMIM:301050] -synonym: "X-linked Alport syndrome" EXACT CLINGEN_LABEL [] +synonym: "X-linked Alport syndrome" EXACT CLINGEN_LABEL [DOID:0110034, Orphanet:88917] xref: DOID:0110034 {source="MONDO:equivalentTo"} xref: GARD:16774 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:88917", source="Orphanet:88917/attributed", source="Orphanet:88917/ntbt"} @@ -233828,22 +233865,22 @@ name: amelogenesis imperfecta type 1E def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:9943", source="MONDO:GARD"} subset: rare -synonym: "AI1E" RELATED ABBREVIATION [MONDO:Lexical, OMIM:301200] +synonym: "AI1E" RELATED ABBREVIATION [MONDO:Lexical] synonym: "AIH1" EXACT ABBREVIATION [DOID:0110058, GARD:0009943] synonym: "amelogenesis imperfecta caused by mutation in AMELX" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturationtype with snow-capped teeth" EXACT [DOID:0110058] synonym: "amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1" RELATED [GARD:0009943] synonym: "amelogenesis imperfecta type IE" EXACT [DOID:0110058] synonym: "amelogenesis imperfecta X-linked 1" RELATED [GARD:0009943] -synonym: "amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth" RELATED [OMIM:301200] -synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1" RELATED [OMIM:301200] -synonym: "amelogenesis imperfecta, type 1E" RELATED [OMIM:301200] -synonym: "amelogenesis imperfecta, type 1E, X-linked dominant" EXACT [OMIM:301200, OMIM:genemap2] -synonym: "amelogenesis imperfecta, type IE" RELATED [MONDO:Lexical, OMIM:301200] -synonym: "amelogenesis imperfecta, X-linked 1" RELATED [OMIM:301200] +synonym: "amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth" RELATED [] +synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1" RELATED [] +synonym: "amelogenesis imperfecta, type 1E" RELATED [] +synonym: "amelogenesis imperfecta, type 1E, X-linked dominant" EXACT [] +synonym: "amelogenesis imperfecta, type IE" RELATED [MONDO:Lexical] +synonym: "amelogenesis imperfecta, X-linked 1" RELATED [] synonym: "AMELX amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "enamel hypoplasia X-linked" RELATED [GARD:0009943] -synonym: "enamel hypoplasia, X-linked" RELATED [OMIM:301200] +synonym: "enamel hypoplasia, X-linked" RELATED [] synonym: "X-linked amelogenesis imperfecta 1" EXACT [DOID:0110058] synonym: "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1" EXACT [DOID:0110058] synonym: "X-linked enamel hypoplasia" RELATED [DOID:0110058] @@ -233872,15 +233909,15 @@ subset: rare synonym: "AIH3" EXACT ABBREVIATION [DOID:0110059] synonym: "AIH3 (formerly)" RELATED [GARD:0009944] synonym: "amelogenesis imperfecta 3 hypoplastic type" EXACT DEPRECATED [DOID:0110059] -synonym: "amelogenesis imperfecta 3, hypoplastic type" RELATED DEPRECATED [OMIM:301201] +synonym: "amelogenesis imperfecta 3, hypoplastic type" RELATED DEPRECATED [] synonym: "amelogenesis imperfecta 3, hypoplastic type (formerly)" RELATED [GARD:0009944] -synonym: "amelogenesis imperfecta 3, hypoplastic type, formerly" RELATED DEPRECATED [OMIM:301201] -synonym: "amelogenesis imperfecta type IE X-linked 2" EXACT [DOID:0110059] -synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2" RELATED [OMIM:301201] -synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2" EXACT [MONDORULE:1, OMIM:301201] -synonym: "amelogenesis imperfecta, type IE, X-linked 2" EXACT [OMIM:301201, OMIM:genemap2] -synonym: "enamel hypoplasia, X-linked" RELATED [OMIM:301201] -synonym: "X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2" EXACT [DOID:0110059, MONDORULE:1] +synonym: "amelogenesis imperfecta 3, hypoplastic type, formerly" RELATED DEPRECATED [] +synonym: "amelogenesis imperfecta type IE X-linked 2" EXACT [] +synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2" RELATED [] +synonym: "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2" EXACT [MONDORULE:1] +synonym: "amelogenesis imperfecta, type IE, X-linked 2" EXACT [] +synonym: "enamel hypoplasia, X-linked" RELATED [] +synonym: "X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2" EXACT [MONDORULE:1] synonym: "X-linked enamel hypoplasia" RELATED [DOID:0110059] xref: DOID:0110059 {source="MONDO:equivalentTo"} xref: GARD:9944 {source="MONDO:GARD"} @@ -233903,15 +233940,15 @@ subset: ordo_disorder {source="Orphanet:85453"} subset: orphanet_rare {source="Orphanet:85453"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amyloidosis, familial cutaneous" RELATED [OMIM:301220] +synonym: "amyloidosis, familial cutaneous" RELATED [] synonym: "familial cutaneous amyloidosis" EXACT [Orphanet:85453] -synonym: "Partington disease" EXACT [Orphanet:85453] +synonym: "Partington disease" EXACT [DOID:0111834, Orphanet:85453] synonym: "PDR" EXACT ABBREVIATION [MONDO:Lexical, OMIM:301220, Orphanet:85453] -synonym: "pigmentary disorder, reticulate, with systemic manifestations" RELATED [MONDO:Lexical, OMIM:301220] -synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linked" RELATED [OMIM:301220] -synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive" EXACT [OMIM:301220, OMIM:genemap2] +synonym: "pigmentary disorder, reticulate, with systemic manifestations" RELATED [MONDO:Lexical] +synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linked" RELATED [] +synonym: "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive" EXACT [] synonym: "X-linked cutaneous amyloidosis" EXACT [Orphanet:85453] -synonym: "XLPDR" EXACT ABBREVIATION [Orphanet:85453] +synonym: "XLPDR" EXACT ABBREVIATION [OMIM:301220, Orphanet:85453] xref: DOID:0111834 {source="MONDO:equivalentTo"} xref: GARD:16756 {source="MONDO:GARD"} xref: ICD10EXP:E85.0+ {source="Orphanet:85453", source="Orphanet:85453/attributed", source="Orphanet:85453/ntbt"} @@ -233944,23 +233981,23 @@ subset: rare synonym: "anaemia sideroblastic and spinocerebellar ataxia" EXACT OMO:0003005 [] synonym: "anemia sideroblastic and spinocerebellar ataxia" EXACT [DOID:0050554] synonym: "anemia, Sex-linked hypochromic Siderobla" RELATED [MESH:C536358] -synonym: "anemia, sideroblastic, and spinocerebellar ataxia" RELATED [MESH:C536358, MONDO:Lexical, OMIM:301310] -synonym: "anemia, sideroblastic, with ataxia, X-linked recessive" EXACT [OMIM:301310, OMIM:genemap2] -synonym: "ASAT" EXACT ABBREVIATION [DOID:0060064, MESH:C536358, MONDO:Lexical, OMIM:301310] +synonym: "anemia, sideroblastic, and spinocerebellar ataxia" RELATED [MESH:C536358, MONDO:Lexical] +synonym: "anemia, sideroblastic, with ataxia, X-linked recessive" EXACT [] +synonym: "ASAT" EXACT ABBREVIATION [MESH:C536358, MONDO:Lexical] synonym: "Pagon Bird Detter syndrome" RELATED [MESH:C536358] synonym: "Pagon-Bird-Detter syndrome" EXACT [Orphanet:2802] synonym: "sideroblastic anaemia with spinocerebellar ataxia" EXACT OMO:0003005 [] synonym: "sideroblastic anemia with spinocerebellar ataxia" EXACT [MESH:C536358, MONDO:0000609] synonym: "X-linked sideroblastic Anaemia and ataxia" RELATED OMO:0003005 [] -synonym: "X-linked sideroblastic anaemia and ataxia" EXACT OMO:0003005 [] +synonym: "X-linked sideroblastic anaemia and ataxia" EXACT OMO:0003005 [DOID:0050554] synonym: "X-linked sideroblastic anaemia and spinocerebellar ataxia" RELATED OMO:0003005 [] synonym: "X-linked sideroblastic anaemia with spinocerebellar ataxia" EXACT OMO:0003005 [] synonym: "X-linked sideroblastic Anemia and ataxia" RELATED [MESH:C536358] synonym: "X-linked sideroblastic anemia and ataxia" EXACT [DOID:0050554] -synonym: "X-linked sideroblastic anemia and spinocerebellar ataxia" RELATED [Orphanet:2802] -synonym: "X-linked sideroblastic anemia with ataxia" EXACT [Orphanet:2802] +synonym: "X-linked sideroblastic anemia and spinocerebellar ataxia" RELATED [] +synonym: "X-linked sideroblastic anemia with ataxia" EXACT [DOID:0050554, Orphanet:2802] synonym: "X-linked sideroblastic anemia with spinocerebellar ataxia" EXACT [] -synonym: "XLSA-A" EXACT [Orphanet:2802] +synonym: "XLSA-A" EXACT ABBREVIATION [Orphanet:2802] synonym: "Xlsa-A" RELATED [MESH:C536358] xref: DOID:0050554 {source="MONDO:equivalentTo"} xref: DOID:0060064 {source="MONDO:equivalentObsolete"} @@ -233987,7 +234024,7 @@ subset: gard_rare {source="GARD:669", source="MONDO:GARD"} subset: rare synonym: "anencephaly and spina bifida X-linked" RELATED [GARD:0000669] synonym: "neural tube defects, X-linked" EXACT [OMIM:301410] -synonym: "spina bifida, X-linked" RELATED [OMIM:301410] +synonym: "spina bifida, X-linked" RELATED [] synonym: "X-linked anencephaly/spina bifida" RELATED [GARD:0000669] xref: GARD:669 {source="MONDO:GARD"} xref: MEDGEN:337140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -234011,19 +234048,20 @@ subset: orphanet_rare {source="Orphanet:324"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alpha galactosidase deficiency" EXACT [DOID:14499] -synonym: "Alpha-galactosidase A deficiency" EXACT [DOID:14499, Orphanet:324] -synonym: "Anderson-Fabry disease" EXACT [OMIM:301500, Orphanet:324] -synonym: "angiokeratoma corporis diffusum" EXACT [DOID:14499, NCIT:C27528, OMIM:301500, Orphanet:324] +synonym: "Alpha-galactosidase A deficiency" EXACT [DOID:14499, icd11.foundation:66996647, NCIT:C84701, OMIM:301500, Orphanet:324] +synonym: "Anderson-Fabry disease" EXACT [icd11.foundation:66996647, OMIM:301500, Orphanet:324] +synonym: "angiokeratoma corporis diffusum" EXACT [DOID:14499, NCIT:C84701, OMIM:301500, Orphanet:324] synonym: "angiokeratoma, diffuse" RELATED [GARD:0006400] -synonym: "ceramide trihexosidase deficiency" RELATED [OMIM:301500] +synonym: "ceramide trihexosidase deficiency" RELATED [] synonym: "deficiency of melibiase" EXACT [DOID:14499] synonym: "diffuse angiokeratoma" EXACT [Orphanet:324] -synonym: "Fabry disease" EXACT CLINGEN_LABEL [OMIM:301500] -synonym: "Fabry disease, Cardiac variant" RELATED [OMIM:301500] -synonym: "Fabry's disease" EXACT [DOID:14499] -synonym: "Fd" EXACT [Orphanet:324] -synonym: "Gla deficiency" RELATED [OMIM:301500] -synonym: "hereditary dystopic lipidosis" RELATED [OMIM:301500] +synonym: "Fabry disease" EXACT CLINGEN_LABEL [DOID:14499, icd11.foundation:66996647, NCIT:C84701, OMIM:301500, Orphanet:324] +synonym: "Fabry disease, Cardiac variant" RELATED [] +synonym: "Fabry's disease" EXACT [DOID:14499, NCIT:C84701] +synonym: "FD" EXACT ABBREVIATION [Orphanet:324] +synonym: "Fd" EXACT [] +synonym: "Gla deficiency" RELATED [] +synonym: "hereditary dystopic lipidosis" RELATED [] xref: DOID:14499 {source="MONDO:equivalentTo"} xref: GARD:6400 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:324", source="Orphanet:324/ntbt", source="Orphanet:324/inclusion"} @@ -234074,7 +234112,7 @@ replaced_by: MONDO:0010671 id: MONDO:0010528 name: anosmia def: "Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions." [MESH:D000857] -synonym: "anosmia" EXACT [MONDO:ambiguous, OMIM:301700] +synonym: "anosmia" EXACT [icd11.foundation:1599308422, MONDO:ambiguous] synonym: "anosmia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000458 {source="MONDO:otherHierarchy"} xref: icd11.foundation:1599308422 {source="MONDO:equivalentTo"} @@ -234099,13 +234137,13 @@ subset: orphanet_rare {source="Orphanet:85297"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ataxia-deafness syndrome X-linked" RELATED [GARD:0009981] -synonym: "ataxia-deafness syndrome, X-linked" RELATED [OMIM:301790] -synonym: "SCAX3" EXACT ABBREVIATION [Orphanet:85297] -synonym: "Scax3" RELATED [OMIM:301790] +synonym: "ataxia-deafness syndrome, X-linked" RELATED [] +synonym: "SCAX3" EXACT ABBREVIATION [DOID:0111831, OMIM:301790, Orphanet:85297] +synonym: "Scax3" RELATED [] synonym: "spinocerebellar ataxia X-linked type 3" RELATED [GARD:0009981] -synonym: "spinocerebellar ataxia, X-linked 3" RELATED [OMIM:301790] -synonym: "spinocerebellar ataxia, X-linked type 3" EXACT [MONDORULE:1, OMIM:301790] -synonym: "X-linked ataxia-deafness syndrome" EXACT [Orphanet:85297] +synonym: "spinocerebellar ataxia, X-linked 3" RELATED [] +synonym: "spinocerebellar ataxia, X-linked type 3" EXACT [MONDORULE:1] +synonym: "X-linked ataxia-deafness syndrome" EXACT [DOID:0111831, Orphanet:85297] xref: DOID:0111831 {source="MONDO:equivalentTo"} xref: GARD:9981 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:85297/attributed", source="Orphanet:85297/ntbt", source="Orphanet:85297"} @@ -234136,7 +234174,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1484"} subset: orphanet_rare {source="Orphanet:1484"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay" RELATED [OMIM:301815] +synonym: "arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay" RELATED [] synonym: "congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment" RELATED [GARD:0001515] synonym: "contractures ectodermal dysplasia cleft lip palate" RELATED [GARD:0001515] synonym: "Ladda Zonana Ramer syndrome" RELATED [GARD:0001515] @@ -234164,18 +234202,18 @@ subset: ordo_disorder {source="Orphanet:1145"} subset: orphanet_rare {source="Orphanet:1145"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AMC, distal, X-linked" RELATED [OMIM:301830] -synonym: "arthrogryposis multiplex congenita, distal, X-linked" RELATED [OMIM:301830] -synonym: "arthrogryposis, X-linked, type 1" RELATED [OMIM:301830] -synonym: "SMAX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:301830, Orphanet:1145] -synonym: "spinal muscular atrophy with arthrogryposis" EXACT [Orphanet:1145] -synonym: "spinal muscular atrophy, infantile X-linked" RELATED [OMIM:301830] -synonym: "spinal muscular atrophy, X-linked 2" RELATED [MONDO:Lexical, OMIM:301830] -synonym: "spinal muscular atrophy, X-linked 2, infantile, X-linked recessive" EXACT [OMIM:301830, OMIM:genemap2] -synonym: "spinal muscular atrophy, X-linked lethal infantile" RELATED [OMIM:301830] -synonym: "spinal muscular atrophy, X-linked type 2" EXACT [MONDORULE:1, OMIM:301830] -synonym: "X-linked distal arthrogryposis multiplex congenita" EXACT [Orphanet:1145] -synonym: "X-linked spinal muscular atrophy type 2" EXACT [Orphanet:1145] +synonym: "AMC, distal, X-linked" RELATED [] +synonym: "arthrogryposis multiplex congenita, distal, X-linked" RELATED [] +synonym: "arthrogryposis, X-linked, type 1" RELATED [] +synonym: "SMAX2" EXACT ABBREVIATION [DOID:0111827, MONDO:Lexical, OMIM:301830, Orphanet:1145] +synonym: "spinal muscular atrophy with arthrogryposis" EXACT [DOID:0111827, Orphanet:1145] +synonym: "spinal muscular atrophy, infantile X-linked" RELATED [] +synonym: "spinal muscular atrophy, X-linked 2" RELATED [MONDO:Lexical] +synonym: "spinal muscular atrophy, X-linked 2, infantile, X-linked recessive" EXACT [] +synonym: "spinal muscular atrophy, X-linked lethal infantile" RELATED [] +synonym: "spinal muscular atrophy, X-linked type 2" EXACT [MONDORULE:1] +synonym: "X-linked distal arthrogryposis multiplex congenita" EXACT [DOID:0111827, Orphanet:1145] +synonym: "X-linked spinal muscular atrophy type 2" EXACT [DOID:0111827, Orphanet:1145] xref: DOID:0111827 {source="MONDO:equivalentTo"} xref: GARD:8521 {source="MONDO:GARD"} xref: ICD10CM:G12.1 {source="Orphanet:1145", source="Orphanet:1145/attributed", source="Orphanet:1145/ntbt"} @@ -234201,21 +234239,22 @@ subset: ordo_disorder {source="Orphanet:1187"} subset: orphanet_rare {source="Orphanet:1187"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Arts" EXACT [DOID:0050647, MONDO:Lexical, OMIM:301835] -synonym: "Arts syndrome" EXACT [MONDO:Lexical, OMIM:301835, Orphanet:1187] -synonym: "Arts syndrome, X-linked recessive" EXACT [OMIM:301835, OMIM:genemap2] -synonym: "ataxia, fatal X-linked, with deafness and loss of vision" RELATED [OMIM:301835] +synonym: "ARTS" EXACT ABBREVIATION [DOID:0050647, OMIM:301835] +synonym: "Arts" EXACT [MONDO:Lexical] +synonym: "Arts syndrome" EXACT [DOID:0050647, MONDO:Lexical, OMIM:301835, Orphanet:1187] +synonym: "Arts syndrome, X-linked recessive" EXACT [] +synonym: "ataxia, fatal X-linked, with deafness and loss of vision" RELATED [] synonym: "fatal X-linked ataxia with deafness and loss of vision" EXACT [DOID:0050647] -synonym: "intellectual disability, X-linked, syndromic 18" RELATED [OMIM:301835] -synonym: "intellectual disability, X-linked, syndromic, Arts type" RELATED [OMIM:301835] -synonym: "lethal ataxia with deafness and optic atrophy" EXACT [DOID:0050647] +synonym: "intellectual disability, X-linked, syndromic 18" RELATED [] +synonym: "intellectual disability, X-linked, syndromic, Arts type" RELATED [] +synonym: "lethal ataxia with deafness and optic atrophy" EXACT [DOID:0050647, Orphanet:1187] synonym: "lethal ataxia-deafness-optic atrophy" RELATED [GARD:0008756] -synonym: "mental retardation, X-linked, syndromic 18" RELATED DEPRECATED [OMIM:301835] -synonym: "mental retardation, X-linked, syndromic, Arts type" RELATED DEPRECATED [OMIM:301835] +synonym: "mental retardation, X-linked, syndromic 18" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic, Arts type" RELATED DEPRECATED [] synonym: "MRXS18" EXACT ABBREVIATION [DOID:0050647] synonym: "MRXSARTS" EXACT ABBREVIATION [DOID:0050647] -synonym: "syndromic X-linked intellectual disability 18" EXACT [DOID:0050647] -synonym: "syndromic X-linked intellectual disability Arts type" EXACT [DOID:0050647] +synonym: "syndromic X-linked intellectual disability 18" EXACT [] +synonym: "syndromic X-linked intellectual disability Arts type" EXACT [] synonym: "syndromic X-linked mental retardation 18" EXACT DEPRECATED [DOID:0050647] synonym: "syndromic X-linked mental retardation Arts type" EXACT DEPRECATED [DOID:0050647] synonym: "X-linked fatal ataxia with deafness and loss of vision" RELATED [GARD:0008756] @@ -234248,13 +234287,13 @@ subset: orphanet_rare {source="Orphanet:85292"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ataxia-dementia syndrome X-linked" RELATED [GARD:0009980] -synonym: "ataxia-dementia syndrome, X-linked" RELATED [OMIM:301840] -synonym: "SCAX4" EXACT ABBREVIATION [Orphanet:85292] -synonym: "Scax4" RELATED [OMIM:301840] +synonym: "ataxia-dementia syndrome, X-linked" RELATED [] +synonym: "SCAX4" EXACT ABBREVIATION [DOID:0111832, OMIM:301840, Orphanet:85292] +synonym: "Scax4" RELATED [] synonym: "spinocerebellar ataxia X-linked type 4" RELATED [GARD:0009980] -synonym: "spinocerebellar ataxia, X-linked 4" RELATED [OMIM:301840] -synonym: "spinocerebellar ataxia, X-linked type 4" EXACT [MONDORULE:1, OMIM:301840] -synonym: "X-linked ataxia-dementia syndrome" EXACT [Orphanet:85292] +synonym: "spinocerebellar ataxia, X-linked 4" RELATED [] +synonym: "spinocerebellar ataxia, X-linked type 4" EXACT [MONDORULE:1] +synonym: "X-linked ataxia-dementia syndrome" EXACT [DOID:0111832, Orphanet:85292] xref: DOID:0111832 {source="MONDO:equivalentTo"} xref: GARD:9980 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:85292/attributed", source="Orphanet:85292/ntbt", source="Orphanet:85292"} @@ -234282,12 +234321,12 @@ subset: rare synonym: "acrokeratosis of Bazex" EXACT [Orphanet:166113] synonym: "acrokeratosis paraneoplastica" EXACT [Orphanet:166113] synonym: "acrokeratosis paraneoplastica of Bazex" EXACT [Orphanet:166113] -synonym: "Bazex syndrome" EXACT [MONDO:Lexical, OMIM:301845] -synonym: "Bazex syndrome, X-linked dominant" EXACT [OMIM:301845, OMIM:genemap2] +synonym: "Bazex syndrome" EXACT [MONDO:Lexical, OMIM:301845, Orphanet:166113] +synonym: "Bazex syndrome, X-linked dominant" EXACT [] synonym: "Bazex-Dupre-Christol syndrome" EXACT [OMIM:301845] synonym: "Bazex-Dupré-Christol syndrome" EXACT [Orphanet:113] -synonym: "BDCS" EXACT ABBREVIATION [Orphanet:113] -synonym: "BZX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:301845] +synonym: "BDCS" EXACT ABBREVIATION [OMIM:301845, Orphanet:113] +synonym: "BZX" RELATED ABBREVIATION [MONDO:Lexical] synonym: "follicular atrophoderma and basal cell carcinomas" EXACT [OMIM:301845, Orphanet:113] synonym: "follicular atrophoderma-basal cell carcinoma syndrome" RELATED [GARD:0000838] synonym: "follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" RELATED [GARD:0000838] @@ -234333,21 +234372,21 @@ subset: rare synonym: "BFLS" EXACT ABBREVIATION [DOID:0050681, MONDO:Lexical, OMIM:301900, Orphanet:127] synonym: "BORJ" EXACT ABBREVIATION [DOID:0050681] synonym: "Borjeson syndrome" EXACT [DOID:0050681, OMIM:301900] -synonym: "Borjeson-FORSSMAN-Lehmann syndrome" RELATED [OMIM:301900] -synonym: "Borjeson-Forssman-Lehmann syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:301900] -synonym: "Borjeson-Forssman-Lehmann syndrome, X-linked recessive" EXACT [OMIM:301900, OMIM:genemap2] +synonym: "Borjeson-FORSSMAN-Lehmann syndrome" RELATED [] +synonym: "Borjeson-Forssman-Lehmann syndrome" EXACT CLINGEN_LABEL [DOID:0050681, MONDO:Lexical, OMIM:301900, Orphanet:127] +synonym: "Borjeson-Forssman-Lehmann syndrome, X-linked recessive" EXACT [] synonym: "Börjeson-Forssman-Lehman Syndrome" EXACT [NORD:866] synonym: "intellectual deficiency-epilepsy-endocrine disorders syndrome" EXACT [DOID:0050681] -synonym: "intellectual disability, epilepsy, and endocrine disorder" EXACT [DOID:0050681] -synonym: "intellectual disability, epilepsy, and endocrine disorders" RELATED [OMIM:301900] -synonym: "intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type" RELATED [OMIM:301900] +synonym: "intellectual disability, epilepsy, and endocrine disorder" EXACT [] +synonym: "intellectual disability, epilepsy, and endocrine disorders" RELATED [] +synonym: "intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type" RELATED [] synonym: "intellectual disability-epilepsy-endocrine disorders syndrome" EXACT [Orphanet:127] synonym: "mental deficiency, epilepsy and endocrine disorders" RELATED [GARD:0000936] synonym: "mental retardation, epilepsy, and endocrine disorder" EXACT DEPRECATED [DOID:0050681] -synonym: "mental retardation, epilepsy, and endocrine disorders" RELATED DEPRECATED [OMIM:301900] -synonym: "mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type" RELATED DEPRECATED [OMIM:301900] +synonym: "mental retardation, epilepsy, and endocrine disorders" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type" RELATED DEPRECATED [] synonym: "MRXSBFL" EXACT ABBREVIATION [DOID:0050681] -synonym: "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type" EXACT [DOID:0050681] +synonym: "syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type" EXACT [] synonym: "syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type" EXACT DEPRECATED [DOID:0050681] xref: DOID:0050681 {source="MONDO:equivalentTo"} xref: GARD:936 {source="MONDO:GARD"} @@ -234384,14 +234423,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:2565"} subset: orphanet_rare {source="Orphanet:2565"} subset: rare synonym: "brachydactyly Mononen type" RELATED [GARD:0004886] -synonym: "brachydactyly, Mononen type" RELATED [OMIM:301940] +synonym: "brachydactyly, Mononen type" RELATED [] synonym: "Mononen Karnes Senac syndrome" RELATED [GARD:0004886] synonym: "Mononen type brachydactyly" EXACT [DOID:0110973] synonym: "short and abducted thumbs and great toes" EXACT [DOID:0110973] synonym: "skeletal dysplasia brachydactyly" RELATED [GARD:0004886] synonym: "skeletal dysplasia-brachydactyly syndrome" EXACT [Orphanet:2565] synonym: "thumbs and great toes short and abducted" RELATED [GARD:0004886] -synonym: "thumbs and great toes, short and abducted" RELATED [OMIM:301940] +synonym: "thumbs and great toes, short and abducted" RELATED [] xref: DOID:0110973 {source="MONDO:equivalentTo"} xref: GARD:4886 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:2565/attributed", source="Orphanet:2565/ntbt", source="DOID:0110973", source="Orphanet:2565"} @@ -234416,7 +234455,7 @@ subset: orphanet_rare {source="Orphanet:1131"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "branchial arch syndrome X-linked" RELATED [GARD:0001002] -synonym: "branchial arch syndrome, X-linked" RELATED [OMIM:301950] +synonym: "branchial arch syndrome, X-linked" RELATED [] synonym: "mandibulofacial dysostosis Toriello type" RELATED [GARD:0001002] synonym: "mandibulofacial dysostosis, Toriello type" EXACT [OMIM:301950, Orphanet:1131] synonym: "mandibulofacial dysostosis, X-linked" EXACT [MONDO:patterns/x_linked] @@ -234452,10 +234491,10 @@ subset: orphanet_rare {source="Orphanet:1867"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bullous dystrophy hereditary macular type" RELATED [GARD:0001038] -synonym: "bullous dystrophy, hereditary macular type" RELATED [OMIM:302000] +synonym: "bullous dystrophy, hereditary macular type" RELATED [] synonym: "EBM" RELATED ABBREVIATION [GARD:0001038] synonym: "epidermolysis bullosa macular type" RELATED [GARD:0001038] -synonym: "epidermolysis bullosa, macular type" RELATED [OMIM:302000] +synonym: "epidermolysis bullosa, macular type" RELATED [] xref: GARD:1038 {source="MONDO:GARD"} xref: ICD10CM:Q81.8 {source="Orphanet:1867/attributed", source="Orphanet:1867/ntbt", source="Orphanet:1867"} xref: MEDGEN:167089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -234478,7 +234517,7 @@ subset: ordo_disorder {source="Orphanet:391327"} subset: orphanet_rare {source="Orphanet:391327"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "calvarial hyperostosis" RELATED [OMIM:302030] +synonym: "calvarial hyperostosis" RELATED [] synonym: "isolated hyperostosis of the calvarium" RELATED [GARD:0001058] xref: GARD:1058 {source="MONDO:GARD"} xref: ICD10CM:M85.2 {source="Orphanet:391327/attributed", source="Orphanet:391327/ntbt", source="Orphanet:391327"} @@ -234499,16 +234538,16 @@ subset: gard_rare {source="GARD:15287", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cardiomyopathy, dilated, 3B" RELATED [MONDO:Lexical, OMIM:302045] -synonym: "cardiomyopathy, dilated, type 3B" EXACT [MONDORULE:4, OMIM:302045] -synonym: "cardiomyopathy, dilated, X-linked" RELATED [OMIM:302045] +synonym: "cardiomyopathy, dilated, 3B" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 3B" EXACT [MONDORULE:4] +synonym: "cardiomyopathy, dilated, X-linked" RELATED [] synonym: "CMD3B" EXACT ABBREVIATION [DOID:0110461, MONDO:Lexical, OMIM:302045] -synonym: "dilated cardiomyopathy 3B" EXACT CLINGEN_LABEL [] +synonym: "dilated cardiomyopathy 3B" EXACT CLINGEN_LABEL [DOID:0110461] synonym: "dilated cardiomyopathy caused by mutation in DMD" EXACT [MONDO:design_pattern] -synonym: "dilated cardiomyopathy type 3B" EXACT [DOID:0110461, MONDORULE:4] +synonym: "dilated cardiomyopathy type 3B" EXACT [MONDORULE:4] synonym: "DMD dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DMD-related dilated cardiomyopathy" RELATED [DOID:0060561] -synonym: "X-linked dilated cardiomyopathy" RELATED [DOID:0110461] +synonym: "DMD-related dilated cardiomyopathy" RELATED [] +synonym: "X-linked dilated cardiomyopathy" RELATED [] xref: DOID:0060561 {source="MONDO:equivalentObsolete"} xref: DOID:0081164 {source="MONDO:equivalentObsolete"} xref: DOID:0110461 {source="MONDO:equivalentTo"} @@ -234538,20 +234577,20 @@ subset: ordo_disorder {source="Orphanet:111"} subset: orphanet_rare {source="Orphanet:111"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3-methylglutaconic aciduria type 2" EXACT [Orphanet:111] +synonym: "3-methylglutaconic aciduria type 2" EXACT [icd11.foundation:452199926, NCIT:C84585, Orphanet:111] synonym: "3-methylglutaconic aciduria type II" RELATED [GARD:0005890] -synonym: "3-Methylglutaconic aciduria, type 2" RELATED [OMIM:302060] +synonym: "3-Methylglutaconic aciduria, type 2" RELATED [] synonym: "3-Methylglutaconicaciduria type 2" EXACT [DOID:0050476] synonym: "3-Methylglutaconicaciduria type II" EXACT [DOID:0050476] -synonym: "BARTH syndrome" RELATED [OMIM:302060] -synonym: "Barth syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:302060] -synonym: "Barth syndrome, X-linked recessive" EXACT [OMIM:302060, OMIM:genemap2] +synonym: "BARTH syndrome" RELATED [] +synonym: "Barth syndrome" EXACT CLINGEN_LABEL [DOID:0050476, ICD10CM:E78.71, icd11.foundation:452199926, MONDO:Lexical, NCIT:C84585, OMIM:302060, Orphanet:111] +synonym: "Barth syndrome, X-linked recessive" EXACT [] synonym: "BTHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:302060, Orphanet:111] -synonym: "cardioskeletal myopathy with neutropenia and abnormal mitochondria" EXACT [Orphanet:111] +synonym: "cardioskeletal myopathy with neutropenia and abnormal mitochondria" EXACT [OMIM:302060, Orphanet:111] synonym: "cardioskeletal myopathy-neutropenia syndrome" EXACT [Orphanet:111] synonym: "MGA type 2" EXACT [DOID:0050476] synonym: "MGA type II" EXACT [DOID:0050476] -synonym: "Mga, type 2" RELATED [OMIM:302060] +synonym: "Mga, type 2" RELATED [] synonym: "MGA2" EXACT ABBREVIATION [Orphanet:111] synonym: "TAZ defect" RELATED [GARD:0005890] synonym: "X-linked cardioskeletal myopathy and neutropenia" EXACT [Orphanet:111] @@ -234589,15 +234628,15 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 40" EXACT [MONDO:Lexical, OMIM:302200] +synonym: "cataract 40" EXACT [DOID:0110272, MONDO:Lexical, OMIM:302200] synonym: "cataract 40 with or without microcornea" EXACT [DOID:0110272, OMIM:302200] synonym: "cataract 40 X-linked" EXACT [DOID:0110272] synonym: "cataract 40, X-linked" RELATED [GARD:0008278] synonym: "cataract congenital X-linked" RELATED [GARD:0008278] -synonym: "cataract type 40" EXACT [DOID:0110272, MONDORULE:2, OMIM:302200] -synonym: "cataract, congenital total, with posterior sutural opacities in heterozygotes" RELATED [OMIM:302200] +synonym: "cataract type 40" EXACT [MONDORULE:2] +synonym: "cataract, congenital total, with posterior sutural opacities in heterozygotes" RELATED [] synonym: "cataract, congenital, with microcornea or slight microphthalmia" RELATED [GARD:0008278] -synonym: "cataract, congenital, X-linked" RELATED [OMIM:302200] +synonym: "cataract, congenital, X-linked" RELATED [] synonym: "CTRCT40" EXACT ABBREVIATION [DOID:0110272, MONDO:Lexical, OMIM:302200] synonym: "early-onset non-syndromic cataract caused by mutation in NHS" EXACT [MONDO:design_pattern] synonym: "NHS early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -234630,13 +234669,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cataract dental syndrome" RELATED [GARD:0007161] synonym: "cataract X-linked with Hutchinsonian teeth" RELATED [GARD:0007161] -synonym: "cataract, X-linked, with Hutchinsonian teeth" RELATED [OMIM:302350] -synonym: "cataract-dental syndrome" RELATED [OMIM:302350] +synonym: "cataract, X-linked, with Hutchinsonian teeth" RELATED [] +synonym: "cataract-dental syndrome" RELATED [] synonym: "Mesiodens cataract syndrome" RELATED [GARD:0007161] -synonym: "Mesiodens-cataract syndrome" RELATED [OMIM:302350] -synonym: "Nance-Horan syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:302350] -synonym: "nance-horan syndrome, X-linked dominant" EXACT [OMIM:302350, OMIM:genemap2] -synonym: "NHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:302350] +synonym: "Mesiodens-cataract syndrome" RELATED [] +synonym: "Nance-Horan syndrome" EXACT CLINGEN_LABEL [DOID:0060599, icd11.foundation:938299000, MONDO:Lexical, OMIM:302350, Orphanet:627] +synonym: "nance-horan syndrome, X-linked dominant" EXACT [] +synonym: "NHS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0060599 {source="MONDO:equivalentTo"} xref: GARD:7161 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:627", source="DOID:0060599", source="Orphanet:627/attributed", source="Orphanet:627/ntbt"} @@ -234677,12 +234716,12 @@ subset: ordo_disorder {source="Orphanet:1175"} subset: orphanet_rare {source="Orphanet:1175"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "olivopontocerebellar atrophy, X-linked" RELATED [OMIM:302500] -synonym: "OPCA, X-linked" RELATED [OMIM:302500] -synonym: "SCAX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:302500] -synonym: "spinocerebellar ataxia, X-linked 1" RELATED [MONDO:Lexical, OMIM:302500] -synonym: "spinocerebellar ataxia, X-linked 1, X-linked recessive" EXACT [OMIM:302500, OMIM:genemap2] -synonym: "spinocerebellar ataxia, X-linked type 1" EXACT [MONDORULE:1, OMIM:302500] +synonym: "olivopontocerebellar atrophy, X-linked" RELATED [] +synonym: "OPCA, X-linked" RELATED [] +synonym: "SCAX1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spinocerebellar ataxia, X-linked 1" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, X-linked 1, X-linked recessive" EXACT [] +synonym: "spinocerebellar ataxia, X-linked type 1" EXACT [MONDORULE:1] xref: DOID:0111829 {source="MONDO:equivalentTo"} xref: GARD:16558 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:1175", source="Orphanet:1175/attributed", source="Orphanet:1175/ntbt"} @@ -234702,11 +234741,11 @@ subset: gard_rare {source="GARD:9978", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cerebellar ataxia with extrapyramidal involvement early-onset" RELATED [GARD:0009978] -synonym: "cerebellar ataxia with extrapyramidal involvement, early-onset" RELATED [OMIM:302600] -synonym: "Scax2" RELATED [OMIM:302600] +synonym: "cerebellar ataxia with extrapyramidal involvement, early-onset" RELATED [] +synonym: "Scax2" RELATED [] synonym: "spinocerebellar ataxia X-linked type 2" RELATED [GARD:0009978] synonym: "spinocerebellar ataxia, X-linked 2" EXACT [OMIM:302600] -synonym: "spinocerebellar ataxia, X-linked type 2" EXACT [MONDORULE:1, OMIM:302600] +synonym: "spinocerebellar ataxia, X-linked type 2" EXACT [MONDORULE:1] xref: DOID:0111830 {source="MONDO:equivalentTo"} xref: GARD:9978 {source="MONDO:GARD"} xref: MEDGEN:375535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -234728,26 +234767,26 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Charcot Marie Tooth disease X-linked 1" EXACT [GARD:0001258] synonym: "Charcot-Marie-Tooth disease type X caused by mutation in GJB1" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease X-linked dominant 1" EXACT CLINGEN_LABEL [] -synonym: "Charcot-Marie-Tooth disease X-linked dominant type 1" EXACT [DOID:0110209, MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease X-linked dominant 1" EXACT CLINGEN_LABEL [DOID:0110209] +synonym: "Charcot-Marie-Tooth disease X-linked dominant type 1" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 1" EXACT [MONDO:Lexical, OMIM:302800] -synonym: "Charcot-Marie-Tooth disease, X-linked dominant, type 1" EXACT [MONDORULE:1, OMIM:302800] +synonym: "Charcot-Marie-Tooth disease, X-linked dominant, type 1" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked, 1" EXACT [GARD:0001258] synonym: "Charcot-Marie-Tooth neuropathy X type 1" EXACT [NCIT:C129068] synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 1" EXACT [DOID:0110209] -synonym: "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant" EXACT [OMIM:302800, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, X-linked, 1" EXACT [OMIM:302800] -synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked" RELATED [OMIM:302800] -synonym: "CMT1X" RELATED ABBREVIATION [DOID:0110209, Orphanet:101075] -synonym: "CMT2" BROAD ABBREVIATION [OMIM:302800] -synonym: "CMT2, formerly" BROAD [OMIM:302800] -synonym: "CMTX" BROAD ABBREVIATION [OMIM:302800] +synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked" RELATED [] +synonym: "CMT1X" RELATED ABBREVIATION [] +synonym: "CMT2" BROAD ABBREVIATION [] +synonym: "CMT2, formerly" BROAD [] +synonym: "CMTX" BROAD ABBREVIATION [] synonym: "CMTX 1" EXACT [GARD:0001258] -synonym: "CMTX1" EXACT ABBREVIATION [DOID:0110209, MONDO:Lexical, OMIM:302800, Orphanet:101075] +synonym: "CMTX1" EXACT ABBREVIATION [DOID:0110209, MONDO:Lexical, NCIT:C129068, OMIM:302800, Orphanet:101075] synonym: "GJB1 Charcot-Marie-Tooth disease type X" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary motor and sensory neuropathy, X-linked" BROAD [OMIM:302800] -synonym: "HMSN, X-linked" BROAD [OMIM:302800] -synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT [DOID:0110209] +synonym: "hereditary motor and sensory neuropathy, X-linked" BROAD [] +synonym: "HMSN, X-linked" BROAD [] +synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT [DOID:0110209, Orphanet:101075] xref: DOID:0110209 {source="MONDO:equivalentTo"} xref: GARD:1258 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:101075/attributed", source="Orphanet:101075/ntbt", source="DOID:0110209", source="Orphanet:101075"} @@ -234777,14 +234816,14 @@ subset: orphanet_rare {source="Orphanet:101076"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Charcot Marie Tooth disease X-linked recessive 2" EXACT [GARD:0001243] -synonym: "Charcot-Marie-Tooth disease X-linked recessive type 2" EXACT [DOID:0110208, MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease X-linked recessive type 2" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 2" EXACT [MONDO:Lexical, OMIM:302801] synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 2" EXACT [DOID:0110208] synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2" EXACT [OMIM:302801] -synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive" EXACT [OMIM:302801, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive" EXACT [] synonym: "CMTX 2" EXACT [GARD:0001243] synonym: "CMTX2" EXACT ABBREVIATION [DOID:0110208, MONDO:Lexical, OMIM:302801, Orphanet:101076] -synonym: "X-linked Charcot-Marie-Tooth disease type 2" EXACT [DOID:0110208] +synonym: "X-linked Charcot-Marie-Tooth disease type 2" EXACT [DOID:0110208, Orphanet:101076] xref: DOID:0110208 {source="MONDO:equivalentTo"} xref: GARD:1243 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="DOID:0110208", source="Orphanet:101076/attributed", source="Orphanet:101076/ntbt", source="Orphanet:101076"} @@ -234809,15 +234848,15 @@ subset: orphanet_rare {source="Orphanet:101077"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Charcot Marie Tooth disease X-linked recessive 3" EXACT [GARD:0001244] -synonym: "Charcot-Marie-Tooth disease X-linked recessive type 3" EXACT [DOID:0110211, MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease X-linked recessive type 3" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 3" EXACT [MONDO:Lexical, OMIM:302802] synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 3" EXACT [DOID:0110211] synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3" EXACT [OMIM:302802] -synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive" EXACT [OMIM:302802, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 3, X-linked recessive" EXACT [] synonym: "CMT3X" EXACT ABBREVIATION [DOID:0110211, Orphanet:101077] synonym: "CMTX 3" EXACT [GARD:0001244] synonym: "CMTX3" EXACT ABBREVIATION [DOID:0110211, MONDO:Lexical, OMIM:302802, Orphanet:101077] -synonym: "X-linked Charcot-Marie-Tooth disease type 3" EXACT [DOID:0110211] +synonym: "X-linked Charcot-Marie-Tooth disease type 3" EXACT [DOID:0110211, Orphanet:101077] xref: DOID:0110211 {source="MONDO:equivalentTo"} xref: GARD:1244 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:101077", source="Orphanet:101077/attributed", source="Orphanet:101077/ntbt", source="DOID:0110211"} @@ -234863,11 +234902,11 @@ subset: orphanet_rare {source="Orphanet:921"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABERS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:302905] -synonym: "Abruzzo-Erickson syndrome" EXACT [MONDO:Lexical, OMIM:302905] +synonym: "Abruzzo-Erickson syndrome" EXACT [DOID:0111826, MONDO:Lexical, OMIM:302905, Orphanet:921] synonym: "CHARGE like syndrome X-linked" RELATED [GARD:0000360] synonym: "CHARGE-like syndrome" EXACT [Orphanet:921] -synonym: "CHARGE-like syndrome, X-linked" RELATED [OMIM:302905] -synonym: "cleft palate-coloboma-deafness syndrome" EXACT [Orphanet:921] +synonym: "CHARGE-like syndrome, X-linked" RELATED [] +synonym: "cleft palate-coloboma-deafness syndrome" EXACT [DOID:0111826, Orphanet:921] xref: DOID:0111826 {source="MONDO:equivalentTo"} xref: GARD:360 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:921/attributed", source="Orphanet:921/ntbt", source="Orphanet:921"} @@ -234900,15 +234939,15 @@ synonym: "ARSE X-linked chondrodysplasia punctata" EXACT [MONDO:patterns/disease synonym: "arse X-linked chondrodysplasia punctata" EXACT [MONDO:design_pattern] synonym: "arylsulfatase E deficiency" RELATED [GARD:0001296] synonym: "brachytelephalangic chondrodysplasia punctata" EXACT [Orphanet:79345] -synonym: "CDPX1" RELATED ABBREVIATION [GARD:0001296, MONDO:Lexical, OMIM:302950] +synonym: "CDPX1" RELATED ABBREVIATION [GARD:0001296, MONDO:Lexical] synonym: "chondrodysplasia punctata 1 X-linked recessive" RELATED [GARD:0001296] -synonym: "chondrodysplasia punctata 1, X-linked recessive" RELATED [MONDO:Lexical, OMIM:302950] +synonym: "chondrodysplasia punctata 1, X-linked recessive" RELATED [MONDO:Lexical] synonym: "chondrodysplasia punctata brachytelephalangic" RELATED [GARD:0001296] -synonym: "chondrodysplasia punctata, Brachytelephalangic" RELATED [OMIM:302950] +synonym: "chondrodysplasia punctata, Brachytelephalangic" RELATED [] synonym: "chondrodysplasia punctata, brachytelephalangic" RELATED [GARD:0001296] -synonym: "chondrodysplasia punctata, X-linked recessive, X-linked recessive" EXACT [OMIM:302950, OMIM:genemap2] +synonym: "chondrodysplasia punctata, X-linked recessive, X-linked recessive" EXACT [] synonym: "CPXR" RELATED ABBREVIATION [GARD:0001296] -synonym: "Cpxr" RELATED [OMIM:302950] +synonym: "Cpxr" RELATED [] synonym: "X-linked chondrodysplasia punctata 1" EXACT CLINGEN_LABEL [] synonym: "X-linked chondrodysplasia punctata caused by mutation in ARSE" EXACT [] synonym: "X-linked chondrodysplasia punctata caused by mutation in arse" EXACT [MONDO:design_pattern] @@ -234943,9 +234982,9 @@ subset: prototype_pattern subset: rare synonym: "chondrodysplasia punctata, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "chondrodysplasia punctata, X-linked dominant" RELATED [GARD:0006189] -synonym: "chondrodystrophia calcificans congenita" EXACT [DOID:0060292, Orphanet:35173] -synonym: "CPXD" EXACT ABBREVIATION [GARD:0006189, Orphanet:35173] -synonym: "X-linked dominant chondrodysplasia punctata" RELATED [Orphanet:35173] +synonym: "chondrodystrophia calcificans congenita" EXACT [DOID:0060292] +synonym: "CPXD" EXACT ABBREVIATION [GARD:0006189] +synonym: "X-linked dominant chondrodysplasia punctata" RELATED [] xref: DOID:0060292 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.3 {source="Orphanet:35173", source="DOID:0060292", source="Orphanet:35173/attributed", source="Orphanet:35173/ntbt"} xref: MEDGEN:538019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -234969,12 +235008,12 @@ subset: orphanet_rare {source="Orphanet:180"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CHM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:303100, Orphanet:180] -synonym: "choroidal sclerosis" RELATED [OMIM:303100] -synonym: "choroideremia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:303100] +synonym: "choroidal sclerosis" RELATED [] +synonym: "choroideremia" EXACT CLINGEN_LABEL [DOID:9821, ICD10CM:H31.21, icd11.foundation:217923263, MONDO:Lexical, NCIT:C34469, OMIM:303100, Orphanet:180] synonym: "progressive choroidal atrophy" EXACT [DOID:9821, NCIT:C34469] synonym: "progressive tapetochoroidal dystrophy" RELATED [GARD:0006061] synonym: "Tapetochoroidal dystrophy" EXACT [Orphanet:180] -synonym: "Tapetochoroidal dystrophy, progressive" RELATED [OMIM:303100] +synonym: "Tapetochoroidal dystrophy, progressive" RELATED [] synonym: "TCD" RELATED ABBREVIATION [GARD:0006061] xref: DOID:9821 {source="MONDO:equivalentTo"} xref: GARD:6061 {source="MONDO:GARD"} @@ -235012,11 +235051,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Ayazi syndrome" EXACT [Orphanet:1435] synonym: "choroideremia deafness obesity" RELATED [GARD:0000369] -synonym: "choroideremia, deafness, and intellectual disability" RELATED [OMIM:303110] -synonym: "choroideremia, deafness, and mental retardation" RELATED DEPRECATED [OMIM:303110] +synonym: "choroideremia, deafness, and intellectual disability" RELATED [] +synonym: "choroideremia, deafness, and mental retardation" RELATED DEPRECATED [] synonym: "choroideremia, obesity, and congenital deafness" RELATED [GARD:0000369] -synonym: "chromosome Xq21 deletion syndrome" RELATED [OMIM:303110] -synonym: "Xq21 deletion syndrome, X-linked recessive" EXACT [OMIM:303110, OMIM:genemap2] +synonym: "chromosome Xq21 deletion syndrome" RELATED [] +synonym: "Xq21 deletion syndrome, X-linked recessive" EXACT [] xref: GARD:369 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1435", source="Orphanet:1435/attributed", source="Orphanet:1435/ntbt"} xref: MEDGEN:763933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -235037,30 +235076,30 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:2466"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adducted thumb with intellectual disability" RELATED [OMIM:303350] -synonym: "adducted thumb with mental retardation" RELATED DEPRECATED [OMIM:303350] -synonym: "Clasped thumb and intellectual disability" RELATED [OMIM:303350] -synonym: "Clasped thumb and mental retardation" RELATED DEPRECATED [OMIM:303350] -synonym: "CRASH syndrome" RELATED [DOID:0060246] -synonym: "CRASH syndrome, X-linked recessive" RELATED [OMIM:303350, OMIM:genemap2] -synonym: "Gareis-Mason syndrome" EXACT [DOID:0060246, OMIM:303350] +synonym: "adducted thumb with intellectual disability" RELATED [] +synonym: "adducted thumb with mental retardation" RELATED DEPRECATED [] +synonym: "Clasped thumb and intellectual disability" RELATED [] +synonym: "Clasped thumb and mental retardation" RELATED DEPRECATED [] +synonym: "CRASH syndrome" RELATED [] +synonym: "CRASH syndrome, X-linked recessive" RELATED [] +synonym: "Gareis-Mason syndrome" EXACT [DOID:0060246, NCIT:C129930, OMIM:303350] synonym: "hereditary spastic paraplegia 1" EXACT [DOID:0060246] synonym: "intellectual disability aphasia shuffling Gait adducted thumbs (MASA)" RELATED [GARD:0006986] -synonym: "intellectual disability, aphasia, shuffling Gait, and adducted thumbs" RELATED [OMIM:303350] +synonym: "intellectual disability, aphasia, shuffling Gait, and adducted thumbs" RELATED [] synonym: "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome" EXACT [Orphanet:2466] -synonym: "L1 syndrome" RELATED EXCLUDE [DOID:0060246] -synonym: "MASA syndrome" EXACT [OMIM:303350] -synonym: "masa syndrome, X-linked recessive" EXACT [OMIM:303350, OMIM:genemap2] +synonym: "L1 syndrome" RELATED EXCLUDE [] +synonym: "MASA syndrome" EXACT [DOID:0060246, icd11.foundation:1973644723, NCIT:C129930, OMIM:303350, Orphanet:2466] +synonym: "masa syndrome, X-linked recessive" EXACT [] synonym: "mental retardation aphasia shuffling Gait adducted thumbs (MASA)" RELATED DEPRECATED [GARD:0006986] -synonym: "mental retardation, aphasia, shuffling Gait, and adducted thumbs" RELATED DEPRECATED [OMIM:303350] +synonym: "mental retardation, aphasia, shuffling Gait, and adducted thumbs" RELATED DEPRECATED [] synonym: "spastic paraplegia 1" RELATED [GARD:0006986] -synonym: "spastic paraplegia 1, X-linked" RELATED [OMIM:303350] +synonym: "spastic paraplegia 1, X-linked" RELATED [] synonym: "spastic paraplegia, X-linked" EXACT [NCIT:C129930] -synonym: "SPG1" RELATED EXCLUDE [DOID:0060246] +synonym: "SPG1" RELATED EXCLUDE [] synonym: "thumb congenital clasped with intellectual disability" RELATED [GARD:0006986] synonym: "thumb congenital clasped with mental retardation" RELATED DEPRECATED [GARD:0006986] -synonym: "thumb, congenital Clasped, with intellectual disability" RELATED [OMIM:303350] -synonym: "thumb, congenital Clasped, with mental retardation" RELATED DEPRECATED [OMIM:303350] +synonym: "thumb, congenital Clasped, with intellectual disability" RELATED [] +synonym: "thumb, congenital Clasped, with mental retardation" RELATED DEPRECATED [] synonym: "X-linked complicated hereditary spastic paraplegia type 1" EXACT [DOID:0060246] synonym: "X-linked corpus callosum agenesis" EXACT [DOID:0060246] synonym: "X-linked spastic paraplegia 1" EXACT [DOID:0060246] @@ -235094,11 +235133,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:324601"} subset: orphanet_rare {source="Orphanet:324601"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cleft palate with ankyloglossia" EXACT [OMIM:303400, OMIM:genemap2] +synonym: "cleft palate with ankyloglossia" EXACT [] synonym: "cleft palate with or without ankyloglossia, X-linked" EXACT CLINGEN_LABEL [MESH:C536426, MONDO:Lexical, OMIM:303400] synonym: "cleft palate X-linked" RELATED [GARD:0001394] synonym: "cleft palate, X-linked" RELATED [MESH:C536426] -synonym: "CPX" RELATED ABBREVIATION [GARD:0001394, MESH:C536426, MONDO:Lexical, OMIM:303400] +synonym: "CPX" RELATED ABBREVIATION [GARD:0001394, MESH:C536426, MONDO:Lexical] synonym: "X-linked cleft palate" RELATED [GARD:0001394, MESH:C536426] synonym: "X-linked cleft palate and ankyloglossia" EXACT [DOID:0060613, MONDO:0017938, Orphanet:324601] xref: DOID:0060613 {source="MONDO:equivalentTo"} @@ -235132,9 +235171,9 @@ synonym: "CLS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:303600, Orphanet:192] synonym: "Coffin Lowry Syndrome" EXACT [NORD:983] synonym: "Coffin syndrome" RELATED [GARD:0006123] synonym: "Coffin syndrome 1" RELATED [GARD:0008589] -synonym: "COFFIN-Lowry syndrome" RELATED [OMIM:303600] -synonym: "Coffin-Lowry syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:303600] -synonym: "Coffin-Lowry syndrome, X-linked dominant" EXACT [OMIM:303600, OMIM:genemap2] +synonym: "COFFIN-Lowry syndrome" RELATED [] +synonym: "Coffin-Lowry syndrome" EXACT CLINGEN_LABEL [DOID:3783, icd11.foundation:380089065, MONDO:Lexical, NCIT:C84643, OMIM:303600, Orphanet:192] +synonym: "Coffin-Lowry syndrome, X-linked dominant" EXACT [] synonym: "dwarfism, lean spastic type" RELATED [GARD:0008589, MESH:C536435] synonym: "intellectual disability with osteocartilaginous abnormalities" RELATED [GARD:0006123] synonym: "lean spastic dwarfism" RELATED [GARD:0008589, MESH:C536435] @@ -235184,7 +235223,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atresia of colon" EXACT [NCIT:C101024] synonym: "colon atresia" EXACT [NCIT:C101024] -synonym: "colonic atresia" EXACT [MONDO:ambiguous, OMIM:303650] +synonym: "colonic atresia" EXACT [MONDO:ambiguous, OMIM:303650, Orphanet:1198] synonym: "colonic atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "congenital atresia of colon" EXACT [NCIT:C101024] xref: GARD:1446 {source="MONDO:GARD"} @@ -235213,17 +235252,17 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "achromatopsia incomplete X-linked" RELATED [GARD:0000917] synonym: "atypical X-linked achromatopsia" EXACT [Orphanet:16] -synonym: "BCM" RELATED ABBREVIATION [GARD:0000917, MONDO:Lexical, OMIM:303700] -synonym: "blue cone monochromacy" EXACT [MONDO:Lexical, OMIM:303700, Orphanet:16] -synonym: "blue cone monochromacy, X-linked recessive" EXACT [OMIM:303700, OMIM:genemap2] -synonym: "blue cone monochromatism" EXACT [MONDO:0015563, OMIM:303700] +synonym: "BCM" RELATED ABBREVIATION [GARD:0000917, MONDO:Lexical] +synonym: "blue cone monochromacy" EXACT [DOID:0050679, MONDO:Lexical, OMIM:303700, Orphanet:16] +synonym: "blue cone monochromacy, X-linked recessive" EXACT [] +synonym: "blue cone monochromatism" EXACT [MONDO:0015563, OMIM:303700, Orphanet:16] synonym: "CBBM" RELATED ABBREVIATION [GARD:0000917] synonym: "color blindness blue mono cone monochromatic type" RELATED [GARD:0000917] synonym: "color blindness, blue monocone monochromatic type" EXACT [Orphanet:16] -synonym: "colorblindness, blue-Mono-cone-monochromatic type" RELATED [OMIM:303700] +synonym: "colorblindness, blue-Mono-cone-monochromatic type" RELATED [] synonym: "colour blindness blue mono cone monochromatic type" RELATED OMO:0003005 [] synonym: "colour blindness, blue monocone monochromatic type" EXACT OMO:0003005 [] -synonym: "cone dystrophy 5, X-linked" RELATED [OMIM:303700] +synonym: "cone dystrophy 5, X-linked" RELATED [] synonym: "incomplete achromatopsia X-linked" RELATED [GARD:0000917] synonym: "S cone monochromacy" EXACT [Orphanet:16] synonym: "S cone monochromatism" EXACT [Orphanet:16] @@ -235254,15 +235293,15 @@ def: "Deuteranopia is a type of color vision deficiency where the green photorec subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CBD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:303800] -synonym: "colorblindness, deutan" EXACT [OMIM:303800, OMIM:genemap2] -synonym: "colorblindness, partial, DEUTAN series" RELATED [MONDO:Lexical, OMIM:303800] -synonym: "Deutan colorblindness" RELATED [OMIM:303800] +synonym: "CBD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "colorblindness, deutan" EXACT [] +synonym: "colorblindness, partial, DEUTAN series" RELATED [MONDO:Lexical] +synonym: "Deutan colorblindness" RELATED [] synonym: "Deutan defect" EXACT [DOID:13909, ICD9CM:368.52] -synonym: "Deuteranomaly" RELATED [OMIM:303800] -synonym: "deuteranopia" EXACT [DOID:13909, OMIM:303800, Orphanet:319698] -synonym: "Green colorblindness" RELATED [OMIM:303800] -synonym: "partial achromatopsia, deutan type" EXACT [Orphanet:319698] +synonym: "Deuteranomaly" RELATED [] +synonym: "deuteranopia" EXACT [DOID:13909, ICD10CM:H53.53, OMIM:303800] +synonym: "Green colorblindness" RELATED [] +synonym: "partial achromatopsia, deutan type" EXACT [] synonym: "reduced red-green discrimination" EXACT [DOID:13909] xref: DOID:13909 {source="MONDO:equivalentTo", source="EFO:0005581"} xref: EFO:0005581 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -235284,15 +235323,15 @@ id: MONDO:0010565 name: red color blindness def: "Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males." [EFO:0005580] subset: otar {source="MONDO:OTAR"} -synonym: "CBP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:303900] -synonym: "colorblindness, partial, protan series" RELATED [MONDO:Lexical, OMIM:303900] -synonym: "colorblindness, protan" EXACT [OMIM:303900, OMIM:genemap2] -synonym: "partial achromatopsia, protan type" EXACT [Orphanet:319691] +synonym: "CBP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "colorblindness, partial, protan series" RELATED [MONDO:Lexical] +synonym: "colorblindness, protan" EXACT [] +synonym: "partial achromatopsia, protan type" EXACT [] synonym: "protan defect" EXACT [DOID:13910, ICD9CM:368.51] -synonym: "protanomaly" RELATED [OMIM:303900] -synonym: "protanopia" EXACT [DOID:13910, OMIM:303900] -synonym: "red color blindness" EXACT CLINGEN_LABEL [] -synonym: "red colorblindness" RELATED [OMIM:303900] +synonym: "protanomaly" RELATED [] +synonym: "protanopia" EXACT [DOID:13910, ICD10CM:H53.54, OMIM:303900] +synonym: "red color blindness" EXACT CLINGEN_LABEL [DOID:13910] +synonym: "red colorblindness" RELATED [] xref: DOID:13910 {source="MONDO:equivalentTo", source="EFO:0005580"} xref: EFO:0005580 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:H53.54 {source="DOID:13910", source="MONDO:equivalentTo"} @@ -235316,15 +235355,15 @@ subset: gard_rare {source="GARD:10652", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "COD1" EXACT ABBREVIATION [DOID:0111008] -synonym: "cone dystrophy 1, X-linked" RELATED [OMIM:304020] +synonym: "cone dystrophy 1, X-linked" RELATED [] synonym: "cone dystrophy X-linked 1" RELATED [GARD:0010652] synonym: "cone-rod dystrophy X-linked 1" RELATED [GARD:0010652] -synonym: "cone-rod dystrophy, X-linked, 1" RELATED [MONDO:Lexical, OMIM:304020] -synonym: "cone-rod dystrophy, X-linked, 1, X-linked recessive" EXACT [OMIM:304020, OMIM:genemap2] -synonym: "cone-rod dystrophy, X-linked, type 1" EXACT [MONDORULE:1, OMIM:304020] +synonym: "cone-rod dystrophy, X-linked, 1" RELATED [MONDO:Lexical] +synonym: "cone-rod dystrophy, X-linked, 1, X-linked recessive" EXACT [] +synonym: "cone-rod dystrophy, X-linked, type 1" EXACT [MONDORULE:1] synonym: "CORDX1" EXACT ABBREVIATION [DOID:0111008, MONDO:Lexical, OMIM:304020] synonym: "X-linked cone dystrophy 1" EXACT [DOID:0111008] -synonym: "X-linked cone-rod dystrophy type 1" EXACT [DOID:0111008, MONDORULE:1] +synonym: "X-linked cone-rod dystrophy type 1" EXACT [MONDORULE:1] xref: DOID:0111008 {source="MONDO:equivalentTo"} xref: GARD:10652 {source="MONDO:GARD"} xref: MEDGEN:336777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -235370,10 +235409,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "agenesis of corpus callosum with chorioretinal abnormality" EXACT [Orphanet:50] synonym: "AIC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:304050] -synonym: "Aicardi syndrome" EXACT [MONDO:Lexical, OMIM:304050] -synonym: "Aicardi syndrome, X-linked dominant" EXACT [OMIM:304050, OMIM:genemap2] +synonym: "Aicardi syndrome" EXACT [DOID:8461, icd11.foundation:2057245946, MONDO:Lexical, NCIT:C35256, OMIM:304050, Orphanet:50] +synonym: "Aicardi syndrome, X-linked dominant" EXACT [] synonym: "Aicardi’s syndrome" EXACT [PMID:37498137] -synonym: "corpus callosum agenesis of with chorioretinal abnormality" EXACT [Orphanet:50] +synonym: "corpus callosum agenesis of with chorioretinal abnormality" EXACT [] synonym: "corpus callosum, agenesis of, with chorioretinal abnormality" EXACT [OMIM:304050] xref: DOID:8461 {source="MONDO:equivalentTo"} xref: GARD:5764 {source="MONDO:GARD"} @@ -235409,8 +235448,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:1497"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "corpus callosum, partial agenesis of, X-linked" RELATED [OMIM:304100] -synonym: "corpus callosum, partial agenesis of, X-linked recessive" EXACT [OMIM:304100, OMIM:genemap2] +synonym: "corpus callosum, partial agenesis of, X-linked" RELATED [] +synonym: "corpus callosum, partial agenesis of, X-linked recessive" EXACT [] synonym: "X-linked complicated corpus callosum agenesis" RELATED [GARD:0012526] synonym: "X-linked partial agenesis of corpus callosum" RELATED [GARD:0012526] synonym: "X-linked partial corpus callosum agenesis" RELATED [GARD:0012526] @@ -235439,13 +235478,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:1520"} subset: orphanet_rare {source="Orphanet:1520"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CFND" EXACT ABBREVIATION [Orphanet:1520] -synonym: "CFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:304110, Orphanet:1520] -synonym: "craniofrontonasal dysostosis" RELATED [OMIM:304110] -synonym: "Craniofrontonasal Dysplasia" EXACT [NORD:1012] -synonym: "craniofrontonasal dysplasia" EXACT [DOID:14737, OMIM:304110] -synonym: "craniofrontonasal dysplasia, X-linked dominant" EXACT [OMIM:304110, OMIM:genemap2] -synonym: "craniofrontonasal syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:304110, Orphanet:1520] +synonym: "CFND" EXACT ABBREVIATION [DOID:14737, Orphanet:1520] +synonym: "CFNS" EXACT ABBREVIATION [DOID:14737, MONDO:Lexical, OMIM:304110, Orphanet:1520] +synonym: "craniofrontonasal dysostosis" RELATED [] +synonym: "Craniofrontonasal Dysplasia" EXACT [DOID:14737, NORD:1012, OMIM:304110, Orphanet:1520] +synonym: "craniofrontonasal dysplasia" EXACT [DOID:14737, OMIM:304110, Orphanet:1520] +synonym: "craniofrontonasal dysplasia, X-linked dominant" EXACT [] +synonym: "craniofrontonasal syndrome" EXACT CLINGEN_LABEL [DOID:14737, MONDO:Lexical, OMIM:304110, Orphanet:1520] xref: DOID:14737 {source="MONDO:equivalentTo"} xref: GARD:1578 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:1520/attributed", source="Orphanet:1520/ntbt", source="Orphanet:1520"} @@ -235482,18 +235521,18 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Andre syndrome" RELATED [GARD:0005802] synonym: "cranio-oro-digital syndrome" RELATED [GARD:0005802] -synonym: "cranioorodigital syndrome" RELATED [OMIM:304120] -synonym: "faciopalatoosseous syndrome" RELATED [OMIM:304120] +synonym: "cranioorodigital syndrome" RELATED [] +synonym: "faciopalatoosseous syndrome" RELATED [] synonym: "FPO" RELATED ABBREVIATION [GARD:0005802] synonym: "OPD 2 syndrome" EXACT [OMIM:304120] -synonym: "OPD II syndrome" EXACT [Orphanet:90652] -synonym: "OPD syndrome 2" EXACT [OMIM:304120, Orphanet:90652] -synonym: "OPD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304120] +synonym: "OPD II syndrome" EXACT [DOID:0111784, Orphanet:90652] +synonym: "OPD syndrome 2" EXACT [DOID:0111784, OMIM:304120, Orphanet:90652] +synonym: "OPD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "oto-palato-digital syndrome type 2" RELATED [GARD:0005802] synonym: "Otopalatodigital Syndrome Type I and II" EXACT [NORD:1539] -synonym: "otopalatodigital syndrome, type 2" RELATED [OMIM:304120] -synonym: "otopalatodigital syndrome, type II" RELATED [MONDO:Lexical, OMIM:304120] -synonym: "otopalatodigital syndrome, type II, X-linked dominant" EXACT [OMIM:304120, OMIM:genemap2] +synonym: "otopalatodigital syndrome, type 2" RELATED [] +synonym: "otopalatodigital syndrome, type II" RELATED [MONDO:Lexical] +synonym: "otopalatodigital syndrome, type II, X-linked dominant" EXACT [] xref: DOID:0111784 {source="MONDO:equivalentTo"} xref: GARD:5802 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:90652", source="Orphanet:90652/attributed", source="Orphanet:90652/ntbt"} @@ -235524,22 +235563,22 @@ subset: orphanet_rare {source="Orphanet:198"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cutis laxa X-linked" RELATED [GARD:0004017] -synonym: "cutis laxa, X-linked" RELATED [OMIM:304150] -synonym: "cutis laxa, X-linked, formerly" RELATED [OMIM:304150] -synonym: "EDS IX" EXACT [OMIM:304150, Orphanet:198] +synonym: "cutis laxa, X-linked" RELATED [] +synonym: "cutis laxa, X-linked, formerly" RELATED [] +synonym: "EDS IX" EXACT ABBREVIATION [DOID:0111272] synonym: "EDS IX (formerly)" RELATED [GARD:0004017] -synonym: "EDS IX, formerly" RELATED [OMIM:304150] -synonym: "EDS9" RELATED ABBREVIATION [OMIM:304150] -synonym: "EDS9, formerly" RELATED [OMIM:304150] -synonym: "Ehlers-Danlos syndrome type 9" EXACT [Orphanet:198] -synonym: "Ehlers-Danlos syndrome type IX" EXACT [Orphanet:198] -synonym: "Ehlers-Danlos syndrome, occipital horn type" RELATED [OMIM:304150] +synonym: "EDS IX, formerly" RELATED [] +synonym: "EDS9" RELATED ABBREVIATION [] +synonym: "EDS9, formerly" RELATED [] +synonym: "Ehlers-Danlos syndrome type 9" EXACT [DOID:0111272] +synonym: "Ehlers-Danlos syndrome type IX" EXACT [DOID:0111272] +synonym: "Ehlers-Danlos syndrome, occipital horn type" RELATED [] synonym: "Ehlers-Danlos syndrome, occipital horn type (formerly)" RELATED [GARD:0004017] -synonym: "Ehlers-Danlos syndrome, occipital horn type, formerly" RELATED [OMIM:304150] -synonym: "occipital horn syndrome" EXACT [MONDO:Lexical, OMIM:304150] -synonym: "occipital horn syndrome, X-linked recessive" EXACT [OMIM:304150, OMIM:genemap2] -synonym: "OHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304150] -synonym: "X-linked cutis laxa" EXACT [Orphanet:198] +synonym: "Ehlers-Danlos syndrome, occipital horn type, formerly" RELATED [] +synonym: "occipital horn syndrome" EXACT [DOID:0111272, MONDO:Lexical, OMIM:304150, Orphanet:198] +synonym: "occipital horn syndrome, X-linked recessive" EXACT [] +synonym: "OHS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "X-linked cutis laxa" EXACT [DOID:0111272] xref: DOID:0111272 {source="MONDO:equivalentTo"} xref: GARD:4017 {source="MONDO:GARD"} xref: ICD10CM:E83.0 {source="Orphanet:198/attributed", source="Orphanet:198/ntbt", source="Orphanet:198"} @@ -235562,9 +235601,9 @@ id: MONDO:0010573 name: cutis verticis gyrata, thyroid aplasia, and intellectual disability synonym: "Akesson syndrome" RELATED [GARD:0000578] synonym: "cutis verticis gyrata, thyroaplasia and mental deficiency syndrome" RELATED [GARD:0000578] -synonym: "cutis verticis gyrata, thyroid aplasia, and intellectual disability" EXACT [OMIM:304200] +synonym: "cutis verticis gyrata, thyroid aplasia, and intellectual disability" EXACT [] synonym: "cutis verticis gyrata, thyroid aplasia, and mental retardation" EXACT DEPRECATED [OMIM:304200] -synonym: "cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome" EXACT [GARD:0000578, Orphanet:79482] +synonym: "cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome" EXACT [GARD:0000578] synonym: "cutis verticis gyrata-thyroid aplasia-mental retardation syndrome" RELATED DEPRECATED [GARD:0000578] xref: MEDGEN:162779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535610 {source="MONDO:equivalentTo"} @@ -235586,39 +235625,39 @@ subset: orphanet_rare {source="Orphanet:85329", source="Orphanet:1568"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures" RELATED [GARD:0008520] -synonym: "fried syndrome" RELATED [DOID:0060800] +synonym: "fried syndrome" RELATED [] synonym: "intellectual disability X-linked syndromic 5" RELATED [GARD:0008520] synonym: "intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures" RELATED [GARD:0008520] -synonym: "intellectual disability, X-linked 59" RELATED [OMIM:304340] -synonym: "intellectual disability, X-linked syndromic 5" EXACT [DOID:0060800] -synonym: "intellectual disability, X-linked, syndromic 21" RELATED [OMIM:304340] -synonym: "intellectual disability, X-linked, syndromic 5" RELATED [OMIM:304340] -synonym: "intellectual disability, X-linked, syndromic, fried type" RELATED [OMIM:304340] -synonym: "intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" RELATED [OMIM:304340] +synonym: "intellectual disability, X-linked 59" RELATED [] +synonym: "intellectual disability, X-linked syndromic 5" EXACT [] +synonym: "intellectual disability, X-linked, syndromic 21" RELATED [] +synonym: "intellectual disability, X-linked, syndromic 5" RELATED [] +synonym: "intellectual disability, X-linked, syndromic, fried type" RELATED [] +synonym: "intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" RELATED [] synonym: "mental retardation X-linked syndromic 5" RELATED DEPRECATED [GARD:0008520] synonym: "mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures" RELATED DEPRECATED [GARD:0008520] -synonym: "mental retardation, X-linked 59" RELATED DEPRECATED [OMIM:304340] +synonym: "mental retardation, X-linked 59" RELATED DEPRECATED [] synonym: "mental retardation, X-linked syndromic 5" EXACT DEPRECATED [DOID:0060800] -synonym: "mental retardation, X-linked, syndromic 21" RELATED DEPRECATED [OMIM:304340] -synonym: "mental retardation, X-linked, syndromic 5" RELATED DEPRECATED [OMIM:304340] -synonym: "mental retardation, X-linked, syndromic, fried type" RELATED DEPRECATED [OMIM:304340] -synonym: "mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" RELATED DEPRECATED [OMIM:304340] +synonym: "mental retardation, X-linked, syndromic 21" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic 5" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic, fried type" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures" RELATED DEPRECATED [] synonym: "MRX59" EXACT ABBREVIATION [DOID:0060800] synonym: "MRXS21" EXACT ABBREVIATION [DOID:0060800] synonym: "MRXS5" RELATED ABBREVIATION [GARD:0008520] -synonym: "PETTIGREW syndrome" RELATED [MONDO:Lexical, OMIM:304340] -synonym: "Pettigrew syndrome" EXACT [DOID:0060800] -synonym: "Pettigrew syndrome, X-linked recessive" EXACT [OMIM:304340, OMIM:genemap2] -synonym: "PGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304340] -synonym: "syndromic X-linked intellectual disability 21" EXACT [DOID:0060800] -synonym: "syndromic X-linked intellectual disability fried type" EXACT [DOID:0060800] -synonym: "syndromic X-linked intellectual disability type 5" EXACT [DOID:0060800, MONDORULE:1] +synonym: "PETTIGREW syndrome" RELATED [MONDO:Lexical] +synonym: "Pettigrew syndrome" EXACT [DOID:0060800, NCIT:C124839, OMIM:304340, Orphanet:1568] +synonym: "Pettigrew syndrome, X-linked recessive" EXACT [] +synonym: "PGS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "syndromic X-linked intellectual disability 21" EXACT [] +synonym: "syndromic X-linked intellectual disability fried type" EXACT [] +synonym: "syndromic X-linked intellectual disability type 5" EXACT [MONDORULE:1] synonym: "syndromic X-linked mental retardation 21" EXACT DEPRECATED [DOID:0060800] synonym: "syndromic X-linked mental retardation fried type" EXACT DEPRECATED [DOID:0060800] synonym: "X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures" RELATED [GARD:0008520] -synonym: "X-linked intellectual disability 59" EXACT [DOID:0060800] -synonym: "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT [DOID:0060800] -synonym: "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" EXACT [MONDO:0019425] +synonym: "X-linked intellectual disability 59" EXACT [] +synonym: "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT [DOID:0060800, Orphanet:1568] +synonym: "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" EXACT [MONDO:0019425, Orphanet:85329] synonym: "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome" EXACT OMO:0003005 [] synonym: "X-linked mental retardation 59" EXACT DEPRECATED [DOID:0060800] synonym: "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [DOID:0060800] @@ -235656,8 +235695,8 @@ subset: orphanet_rare {source="Orphanet:90646"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "deafness hypogonadism syndrome" RELATED [GARD:0001691] -synonym: "deafness-hypogonadism syndrome" EXACT [MONDO:Lexical, OMIM:304350] -synonym: "DHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304350] +synonym: "deafness-hypogonadism syndrome" EXACT [MONDO:Lexical, OMIM:304350, Orphanet:90646] +synonym: "DHS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:1691 {source="MONDO:GARD"} xref: MEDGEN:335003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564435 {source="MONDO:equivalentTo"} @@ -235675,42 +235714,42 @@ subset: gard_rare {source="GARD:4504", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "central hearing loss" BROAD [DOID:10003, ICD9CM:389.14] -synonym: "conductive deafness with stapes fixation" NARROW [Orphanet:383] +synonym: "central hearing loss" BROAD [ICD9CM:389.14] +synonym: "conductive deafness with stapes fixation" NARROW [] synonym: "deafness 3 conductive with stapes fixation" RELATED [GARD:0004504] -synonym: "deafness 3, conductive, with stapes fixation" RELATED [OMIM:304400] +synonym: "deafness 3, conductive, with stapes fixation" RELATED [] synonym: "deafness conductive with stapes fixation" RELATED [GARD:0004504] synonym: "deafness mixed with perilymphatic gusher" RELATED [GARD:0004504] synonym: "deafness mixed with perilymphatic gusher, X-linked" NARROW [GARD:0001694] -synonym: "deafness, conductive, with stapes fixation" RELATED [OMIM:304400] -synonym: "deafness, mixed, with perilymphatic gusher" RELATED [OMIM:304400] -synonym: "deafness, X-linked 2" RELATED [MONDO:Lexical, OMIM:304400] -synonym: "deafness, X-linked 2, X-linked recessive" NARROW [OMIM:304400, OMIM:genemap2] -synonym: "deafness, X-linked type 2" NARROW [MONDORULE:1, OMIM:304400] +synonym: "deafness, conductive, with stapes fixation" RELATED [] +synonym: "deafness, mixed, with perilymphatic gusher" RELATED [] +synonym: "deafness, X-linked 2" RELATED [MONDO:Lexical] +synonym: "deafness, X-linked 2, X-linked recessive" NARROW [] +synonym: "deafness, X-linked type 2" NARROW [MONDORULE:1] synonym: "DFN 3 nonsyndromic hearing loss and deafness" RELATED [GARD:0004504] synonym: "DFN3" RELATED ABBREVIATION [GARD:0004504] -synonym: "DFNX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:304400, Orphanet:383] +synonym: "DFNX2" EXACT ABBREVIATION [DOID:0111737, MONDO:Lexical, OMIM:304400] synonym: "gusher syndrome" RELATED [GARD:0004504] -synonym: "high frequency deafness" BROAD [DOID:10003] -synonym: "high frequency hearing loss" BROAD [DOID:10003, NCIT:C34663] -synonym: "high-frequency hearing loss" BROAD [DOID:10003] -synonym: "Nance deafness" NARROW [OMIM:304400, Orphanet:383] -synonym: "perceptive deafness" BROAD [DOID:10003] -synonym: "perceptive hearing loss" BROAD [DOID:10003] -synonym: "perceptive hearing loss or deafness" BROAD [DOID:10003] -synonym: "perilymphatic gusher-deafness syndrome" RELATED [OMIM:304400] -synonym: "sensorineural deafness" BROAD [DOID:10003, NCIT:C26739] -synonym: "sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear" RELATED [OMIM:304400] +synonym: "high frequency deafness" BROAD [] +synonym: "high frequency hearing loss" BROAD [] +synonym: "high-frequency hearing loss" BROAD [] +synonym: "Nance deafness" NARROW [] +synonym: "perceptive deafness" BROAD [] +synonym: "perceptive hearing loss" BROAD [] +synonym: "perceptive hearing loss or deafness" BROAD [] +synonym: "perilymphatic gusher-deafness syndrome" RELATED [] +synonym: "sensorineural deafness" BROAD [] +synonym: "sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear" RELATED [] synonym: "sensorineural hearing loss" BROAD [MONDO:ambiguous] -synonym: "sensory hearing loss" BROAD [DOID:10003, ICD9CM:389.11] -synonym: "X-linked deafness type 2" NARROW [Orphanet:383] -synonym: "X-linked mixed conductive and neurosensory deafness" NARROW [Orphanet:383] -synonym: "X-linked mixed conductive and neurosensory hearing loss" EXACT [Orphanet:383] -synonym: "X-linked mixed conductive and sensorineural deafness" NARROW [Orphanet:383] -synonym: "X-linked mixed conductive and sensorineural hearing loss" EXACT [Orphanet:383] -synonym: "X-linked mixed deafness with perilymphatic gusher" NARROW [OMIM:304400] +synonym: "sensory hearing loss" BROAD [ICD9CM:389.11] +synonym: "X-linked deafness type 2" NARROW [] +synonym: "X-linked mixed conductive and neurosensory deafness" NARROW [] +synonym: "X-linked mixed conductive and neurosensory hearing loss" EXACT [DOID:0111737] +synonym: "X-linked mixed conductive and sensorineural deafness" NARROW [] +synonym: "X-linked mixed conductive and sensorineural hearing loss" EXACT [DOID:0111737] +synonym: "X-linked mixed deafness with perilymphatic gusher" NARROW [] synonym: "X-linked mixed hearing loss with perilymphatic gusher" EXACT CLINGEN_LABEL [] -synonym: "X-linked stapes gusher syndrome" EXACT [Orphanet:383] +synonym: "X-linked stapes gusher syndrome" EXACT [DOID:0111737] xref: DOID:0111737 {source="MONDO:equivalentTo"} xref: DOID:10003 {source="EFO:1001176", source="MONDO:relatedTo"} xref: GARD:4504 {source="MONDO:GARD"} @@ -235753,10 +235792,10 @@ name: hearing loss, X-linked 1 subset: gard_rare {source="GARD:18098", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, X-linked 1" NARROW [MONDO:Lexical, OMIM:304500, OMIM:genemap2] -synonym: "deafness, X-linked 2, sensorineural congenital" NARROW [OMIM:304500] -synonym: "deafness, X-linked type 1" NARROW [MONDORULE:1, OMIM:304500] -synonym: "DFNX1" NARROW ABBREVIATION [MONDO:Lexical, OMIM:304500] +synonym: "deafness, X-linked 1" NARROW [MONDO:Lexical] +synonym: "deafness, X-linked 2, sensorineural congenital" NARROW [] +synonym: "deafness, X-linked type 1" NARROW [MONDORULE:1] +synonym: "DFNX1" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0111739 {source="MONDO:equivalentTo"} xref: GARD:18098 {source="MONDO:GARD"} xref: MEDGEN:336749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -235785,18 +235824,18 @@ synonym: "DDP" RELATED ABBREVIATION [GARD:0008331] synonym: "deafness - dystonia - optic neuronopathy syndrome" RELATED [GARD:0008331] synonym: "deafness dystonia optic atrophy syndrome" EXACT [DOID:0050757] synonym: "deafness dystonia optic neuronopathy syndrome" EXACT [DOID:0050757] -synonym: "deafness dystonia optic neuronopathy syndrome (DDON)" EXACT [DOID:0050757] -synonym: "deafness dystonia syndrome" EXACT CLINGEN_LABEL [] -synonym: "deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency" RELATED [OMIM:304700] -synonym: "deafness-Dystonia-optic atrophy syndrome" RELATED [OMIM:304700] +synonym: "deafness dystonia optic neuronopathy syndrome (DDON)" EXACT [] +synonym: "deafness dystonia syndrome" EXACT CLINGEN_LABEL [DOID:0050757] +synonym: "deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency" RELATED [] +synonym: "deafness-Dystonia-optic atrophy syndrome" RELATED [] synonym: "deafness-dystonia-optic neuronopathy (DDON) syndrome" RELATED [GARD:0008331] -synonym: "deafness-dystonia-optic neuronopathy syndrome" EXACT [Orphanet:52368] +synonym: "deafness-dystonia-optic neuronopathy syndrome" EXACT [DOID:0050757, Orphanet:52368] synonym: "dystonia deafness syndrome" EXACT [DOID:0050757] -synonym: "dystonia-deafness syndrome" RELATED [OMIM:304700] -synonym: "MOHR-Tranebjaerg syndrome" RELATED [MONDO:Lexical, OMIM:304700] -synonym: "Mohr-Tranebjaerg syndrome" EXACT [DOID:0050757] -synonym: "Mohr-Tranebjaerg syndrome, X-linked recessive" EXACT [OMIM:304700, OMIM:genemap2] -synonym: "MTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:304700] +synonym: "dystonia-deafness syndrome" RELATED [] +synonym: "MOHR-Tranebjaerg syndrome" RELATED [MONDO:Lexical] +synonym: "Mohr-Tranebjaerg syndrome" EXACT [DOID:0050757, OMIM:304700, Orphanet:52368] +synonym: "Mohr-Tranebjaerg syndrome, X-linked recessive" EXACT [] +synonym: "MTS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050757 {source="MONDO:equivalentTo"} xref: GARD:8331 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:52368/attributed", source="Orphanet:52368/ntbt", source="Orphanet:52368"} @@ -235825,10 +235864,10 @@ subset: orphanet_rare {source="Orphanet:1661"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bilateral corneal dermoids" RELATED [MESH:C535376] -synonym: "CND" RELATED ABBREVIATION [GARD:0002580, MESH:C535376, MONDO:Lexical, OMIM:304730] +synonym: "CND" RELATED ABBREVIATION [GARD:0002580, MESH:C535376, MONDO:Lexical] synonym: "corneal dermoids and short stature" RELATED [MESH:C535376] synonym: "corneal dystrophy epithelial-short stature syndrome" EXACT [Orphanet:1661] -synonym: "dermoids of cornea" RELATED [MONDO:Lexical, OMIM:304730] +synonym: "dermoids of cornea" RELATED [MONDO:Lexical] synonym: "Guizar-Vazquez Luengas-Munoz syndrome" RELATED [MESH:C535376] synonym: "Guízar Vázquez-Luengas-muñoz syndrome" EXACT [Orphanet:1661] xref: GARD:2580 {source="MONDO:GARD"} @@ -235856,38 +235895,38 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autoimmune enteropathy type 1" EXACT [DOID:0090110, Orphanet:37042] synonym: "autoimmunity-immunodeficiency syndrome X-linked" RELATED [GARD:0001850] -synonym: "autoimmunity-immunodeficiency syndrome, X-linked" EXACT [DOID:0090110] -synonym: "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" EXACT [DOID:0090110] +synonym: "autoimmunity-immunodeficiency syndrome, X-linked" EXACT [DOID:0090110, OMIM:304790] +synonym: "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea" EXACT [DOID:0090110, OMIM:304790] synonym: "diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea" EXACT OMO:0003005 [] -synonym: "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked" EXACT [DOID:0090110] +synonym: "diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked" EXACT [DOID:0090110, OMIM:304790] synonym: "DMSD" EXACT ABBREVIATION [DOID:0090110] synonym: "enteropathy, autoimmune, with hemolytic Anaemia and polyendocrinopathy" RELATED OMO:0003005 [] -synonym: "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy" RELATED [OMIM:304790] +synonym: "enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy" RELATED [] synonym: "IDDM secretory diarrhea syndrome" RELATED [GARD:0001850] synonym: "IDDM secretory diarrhoea syndrome" RELATED OMO:0003005 [] -synonym: "IDDM-secretory diarrhea syndrome" EXACT [DOID:0090110] -synonym: "Iddm-secretory diarrhea syndrome" RELATED [OMIM:304790] +synonym: "IDDM-secretory diarrhea syndrome" EXACT [DOID:0090110, OMIM:304790] +synonym: "Iddm-secretory diarrhea syndrome" RELATED [] synonym: "IDDM-secretory diarrhoea syndrome" EXACT OMO:0003005 [] synonym: "Iddm-secretory diarrhoea syndrome" RELATED OMO:0003005 [] synonym: "immune dysfunction and diarrhea syndrome" EXACT [NCIT:C131009] synonym: "immune dysfunction and diarrhoea syndrome" EXACT OMO:0003005 [] synonym: "immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome" EXACT [NCIT:C131009] synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked" EXACT [DOID:0090110] -synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly" RELATED [OMIM:304790] +synonym: "immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly" RELATED [] synonym: "Immunodysregulation, polyendocrinopathy and enteropathy X-linked" RELATED [GARD:0001850] -synonym: "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked" RELATED [MONDO:Lexical, OMIM:304790] -synonym: "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked" EXACT [DOID:0090110] -synonym: "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive" EXACT [OMIM:304790, OMIM:genemap2] -synonym: "IPEX" EXACT ABBREVIATION [DOID:0090110, MONDO:Lexical, OMIM:304790, Orphanet:37042] +synonym: "IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked" RELATED [MONDO:Lexical] +synonym: "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked" EXACT [DOID:0090110, OMIM:304790] +synonym: "immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive" EXACT [] +synonym: "IPEX" EXACT ABBREVIATION [DOID:0090110, MONDO:Lexical, NCIT:C131009, OMIM:304790, Orphanet:37042] synonym: "IPEX syndrome" RELATED [GARD:0001850] -synonym: "islets of Langerhans, absence of" RELATED [OMIM:304790] +synonym: "islets of Langerhans, absence of" RELATED [] synonym: "polyendocrinopathy, immune dysfunction and diarrhea X-linked" RELATED [GARD:0001850] synonym: "polyendocrinopathy, immune dysfunction and diarrhoea X-linked" RELATED OMO:0003005 [] -synonym: "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked" RELATED [OMIM:304790] +synonym: "polyendocrinopathy, immune dysfunction, and diarrhea, X-linked" RELATED [] synonym: "X linked polyendocrinopathy" EXACT [NCIT:C131009] synonym: "X-linked autoimmunity-allergic dysregulation syndrome" EXACT [DOID:0090110, OMIM:304790] -synonym: "XLAAD" EXACT ABBREVIATION [DOID:0090110] -synonym: "XPID" EXACT ABBREVIATION [DOID:0090110] +synonym: "XLAAD" EXACT ABBREVIATION [DOID:0090110, NCIT:C131009] +synonym: "XPID" EXACT ABBREVIATION [DOID:0090110, NCIT:C131009] xref: DOID:0090110 {source="MONDO:equivalentTo"} xref: GARD:1850 {source="MONDO:GARD"} xref: ICD10CM:E31.0 {source="DOID:0090110", source="Orphanet:37042", source="MONDO:directSiblingOf", source="Orphanet:37042/attributed", source="Orphanet:37042/ntbt"} @@ -235915,10 +235954,10 @@ name: diabetes insipidus, nephrogenic, X-linked subset: gard_rare {source="GARD:15289", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "diabetes insipidus, nephrogenic, 1, X-linked recessive" EXACT [OMIM:304800, OMIM:genemap2] -synonym: "diabetes insipidus, nephrogenic, type 1" RELATED [OMIM:304800] -synonym: "diabetes insipidus, nephrogenic, X-linked" EXACT CLINGEN_LABEL [OMIM:304800] -synonym: "Ndi" RELATED [OMIM:304800] +synonym: "diabetes insipidus, nephrogenic, 1, X-linked recessive" EXACT [] +synonym: "diabetes insipidus, nephrogenic, type 1" RELATED [] +synonym: "diabetes insipidus, nephrogenic, X-linked" EXACT CLINGEN_LABEL [] +synonym: "Ndi" RELATED [] xref: DOID:0081060 {source="MONDO:equivalentTo"} xref: GARD:15289 {source="MONDO:GARD"} xref: MEDGEN:288785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -235935,7 +235974,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010582 name: obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance comment: The latest evidence for the existence of this form of this disease is from 1967, and was weak. From OMIM: "The evidence for an X-linked form of neurohypophyseal diabetes insipidus, responsive to treatment with antidiuretic hormone is weak." -synonym: "diabetes insipidus, neurohypophyseal type" EXACT [OMIM:304900] +synonym: "diabetes insipidus, neurohypophyseal type" EXACT [] xref: DOID:0081059 {source="MONDO:obsoleteEquivalent"} xref: OMIM:304900 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:178029 {source="OMIM:304900"} @@ -235970,14 +236009,14 @@ subset: gard_rare {source="GARD:2007", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebellar hypoplasia with pancytopenia" RELATED [OMIM:305000] +synonym: "cerebellar hypoplasia with pancytopenia" RELATED [] synonym: "DKCX" EXACT ABBREVIATION [DOID:0070025, GARD:0002007, MONDO:Lexical, OMIM:305000] synonym: "dyskeratosis congenita X-linked" RELATED [GARD:0002007] synonym: "dyskeratosis congenita, X-linked" EXACT CLINGEN_LABEL [MONDO:Lexical, MONDO:patterns/x_linked, OMIM:305000] -synonym: "dyskeratosis congenita, X-linked, X-linked recessive" EXACT [OMIM:305000, OMIM:genemap2] -synonym: "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia" RELATED [OMIM:305000] -synonym: "Hoyeraal Hreidarsson syndrome" EXACT [NCIT:C126352, OMIM:305000] -synonym: "X-linked dyskeratosis congenita" EXACT [DOID:0070025, GARD:0002007] +synonym: "dyskeratosis congenita, X-linked, X-linked recessive" EXACT [] +synonym: "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia" RELATED [] +synonym: "Hoyeraal Hreidarsson syndrome" EXACT [NCIT:C126352] +synonym: "X-linked dyskeratosis congenita" EXACT [DOID:0070025, GARD:0002007, NCIT:C126352] synonym: "Zinsser-Cole-Engman syndrome" EXACT [DOID:0070025, OMIM:305000] xref: DOID:0070025 {source="MONDO:equivalentTo"} xref: GARD:2007 {source="MONDO:GARD"} @@ -236006,21 +236045,21 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:181"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anhidrotic ectodermal dysplasia X-linked" RELATED [GARD:0010427] -synonym: "Christ-Siemens-Touraine syndrome" EXACT [Orphanet:181] -synonym: "CST syndrome" RELATED [OMIM:305100] -synonym: "ectodermal dysplasia 1" RELATED [OMIM:305100] -synonym: "ectodermal dysplasia 1, hypohidrotic, X-linked" RELATED [MONDO:Lexical, OMIM:305100] -synonym: "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive" EXACT [OMIM:305100, OMIM:genemap2] -synonym: "ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked" RELATED [OMIM:305100] -synonym: "ectodermal dysplasia, anhidrotic, X-linked" RELATED [OMIM:305100] -synonym: "ectodermal dysplasia, hypohidrotic, 1" RELATED [OMIM:305100] -synonym: "Eda1" RELATED [OMIM:305100] +synonym: "Christ-Siemens-Touraine syndrome" EXACT [DOID:0111664, icd11.foundation:941793098, OMIM:305100, Orphanet:181] +synonym: "CST syndrome" RELATED [] +synonym: "ectodermal dysplasia 1" RELATED [] +synonym: "ectodermal dysplasia 1, hypohidrotic, X-linked" RELATED [MONDO:Lexical] +synonym: "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive" EXACT [] +synonym: "ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked" RELATED [] +synonym: "ectodermal dysplasia, anhidrotic, X-linked" RELATED [] +synonym: "ectodermal dysplasia, hypohidrotic, 1" RELATED [] +synonym: "Eda1" RELATED [] synonym: "hypohidrotic ectodermal dysplasia X-linked" RELATED [GARD:0010427] -synonym: "hypohidrotic ectodermal dysplasia, X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "X-linked anhidrotic ectodermal dysplasia" EXACT [Orphanet:181] -synonym: "X-linked hypohidrotic ectodermal dysplasia" EXACT CLINGEN_LABEL [] -synonym: "XHED" EXACT ABBREVIATION [MONDO:Lexical, OMIM:305100, Orphanet:181] -synonym: "Xlhed" RELATED [OMIM:305100] +synonym: "hypohidrotic ectodermal dysplasia, X-linked" EXACT [DOID:0111664, MONDO:patterns/x_linked] +synonym: "X-linked anhidrotic ectodermal dysplasia" EXACT [DOID:0111664, Orphanet:181] +synonym: "X-linked hypohidrotic ectodermal dysplasia" EXACT CLINGEN_LABEL [icd11.foundation:941793098, Orphanet:181] +synonym: "XHED" EXACT ABBREVIATION [DOID:0111664, MONDO:Lexical, OMIM:305100, Orphanet:181] +synonym: "Xlhed" RELATED [] xref: DOID:0111664 {source="MONDO:equivalentTo"} xref: GARD:10427 {source="MONDO:GARD"} xref: ICD10CM:Q82.4 {source="Orphanet:181", source="Orphanet:181/attributed", source="Orphanet:181/ntbt"} @@ -236049,12 +236088,12 @@ subset: ordo_disorder {source="Orphanet:75497"} subset: orphanet_rare {source="Orphanet:75497"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EDS 5" RELATED [OMIM:305200] +synonym: "EDS 5" RELATED [] synonym: "EDS V" EXACT [Orphanet:75497] -synonym: "EDS5" RELATED ABBREVIATION [OMIM:305200] +synonym: "EDS5" RELATED ABBREVIATION [] synonym: "Ehlers-Danlos syndrome type 5" EXACT [Orphanet:75497] -synonym: "Ehlers-Danlos syndrome, type 5" RELATED [OMIM:305200] -synonym: "Ehlers-Danlos syndrome, type V" RELATED [OMIM:305200] +synonym: "Ehlers-Danlos syndrome, type 5" RELATED [] +synonym: "Ehlers-Danlos syndrome, type V" RELATED [] synonym: "Ehlers-Danlos syndrome, X-linked" EXACT [MONDO:patterns/x_linked] xref: GARD:8505 {source="MONDO:GARD"} xref: ICD10CM:Q79.6 {source="Orphanet:75497", source="Orphanet:75497/attributed", source="Orphanet:75497/ntbt"} @@ -236075,9 +236114,9 @@ name: epidermodysplasia verruciformis, X-linked def: "X-linked form of epidermodysplasia verruciformis." [MONDO:patterns/x_linked] subset: gard_rare {source="GARD:15291", source="MONDO:GARD"} subset: rare -synonym: "EDV2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305350] -synonym: "EDVX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305350] -synonym: "epidermodysplasia verruciformis, X-linked" EXACT [MONDO:patterns/x_linked] +synonym: "EDV2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "EDVX" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "epidermodysplasia verruciformis, X-linked" EXACT [MONDO:patterns/x_linked, OMIM:305350] synonym: "X-linked epidermodysplasia verruciformis" EXACT [MONDO:design_pattern] xref: GARD:15291 {source="MONDO:GARD"} xref: MEDGEN:337033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -236097,13 +236136,13 @@ def: "Any exudative vitreoretinopathy in which the cause of the disease is a mut subset: gard_rare {source="GARD:15292", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EVR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305390] -synonym: "Evrx" RELATED [OMIM:305390] +synonym: "EVR2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Evrx" RELATED [] synonym: "exudative vitreoretinopathy 2, X-linked" EXACT [MONDO:Lexical, OMIM:305390] -synonym: "exudative vitreoretinopathy 2, X-linked, X-linked recessive, X-linked dominant" EXACT [OMIM:305390, OMIM:genemap2] +synonym: "exudative vitreoretinopathy 2, X-linked, X-linked recessive, X-linked dominant" EXACT [] synonym: "exudative vitreoretinopathy caused by mutation in NDP" EXACT [MONDO:design_pattern] -synonym: "exudative vitreoretinopathy, familial, 2" RELATED [OMIM:305390] -synonym: "Fevr, X-linked" RELATED [OMIM:305390] +synonym: "exudative vitreoretinopathy, familial, 2" RELATED [] +synonym: "Fevr, X-linked" RELATED [] synonym: "NDP exudative vitreoretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111413 {source="MONDO:equivalentTo"} xref: GARD:15292 {source="MONDO:GARD"} @@ -236131,22 +236170,22 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Aarskog disease" BROAD [MESH:C535331] synonym: "Aarskog Scott syndrome" RELATED [GARD:0004775] -synonym: "Aarskog syndrome" BROAD [Orphanet:915] +synonym: "Aarskog syndrome" BROAD [] synonym: "Aarskog syndrome, X-linked" EXACT [OMIM:305400] synonym: "Aarskog-like syndrome" BROAD [MESH:C535331] -synonym: "Aarskog-Scott syndrome" BROAD [MESH:C535331, MONDO:Lexical, OMIM:305400] +synonym: "Aarskog-Scott syndrome" BROAD [MESH:C535331, MONDO:Lexical] synonym: "Aarskog-Scott syndrome, X-linked" EXACT CLINGEN_LABEL [] -synonym: "Aarskog-Scott syndrome, X-linked recessive" EXACT [OMIM:305400, OMIM:genemap2] -synonym: "AAS" BROAD ABBREVIATION [MESH:C535331, MONDO:Lexical, OMIM:305400] +synonym: "Aarskog-Scott syndrome, X-linked recessive" EXACT [] +synonym: "AAS" BROAD ABBREVIATION [MESH:C535331, MONDO:Lexical] synonym: "facio-digito-genital dysplasia" BROAD [MESH:C535331] -synonym: "faciodigitogenital syndrome" BROAD [MESH:C535331, OMIM:305400, Orphanet:915] +synonym: "faciodigitogenital syndrome" BROAD [MESH:C535331] synonym: "faciodigitogenital syndrome, recessive" BROAD [MESH:C535331] -synonym: "faciogenital dysplasia" BROAD [MESH:C535331, OMIM:305400, Orphanet:915] -synonym: "faciogenital dysplasia with attention Deficit-hyperactivity disorder" RELATED [OMIM:305400] -synonym: "FGD" BROAD ABBREVIATION [NCIT:C129720] +synonym: "faciogenital dysplasia" BROAD [MESH:C535331] +synonym: "faciogenital dysplasia with attention Deficit-hyperactivity disorder" RELATED [] +synonym: "FGD" BROAD ABBREVIATION [] synonym: "FGDY" BROAD ABBREVIATION [MESH:C535331] -synonym: "mental retardation, X-linked syndromic 16, X-linked recessive" EXACT [OMIM:305400, OMIM:genemap2] -synonym: "mental retardation, X-linked, syndromic 16" NARROW DEPRECATED [OMIM:305400] +synonym: "mental retardation, X-linked syndromic 16, X-linked recessive" EXACT [] +synonym: "mental retardation, X-linked, syndromic 16" NARROW DEPRECATED [] synonym: "mental retardation, X-linked, syndromic 16, included" NARROW DEPRECATED [MESH:C535331] synonym: "MRXS16, included" NARROW [MESH:C535331] synonym: "Scott Aarskog syndrome" BROAD [MESH:C535331] @@ -236182,18 +236221,18 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1142"} subset: ordo_disorder {source="Orphanet:93932"} subset: orphanet_rare {source="Orphanet:93932"} subset: rare -synonym: "FG syndrome" RELATED [OMIM:305450] +synonym: "FG syndrome" RELATED [] synonym: "FG syndrome 1" EXACT [OMIM:305450] synonym: "FG syndrome caused by mutation in MED12" EXACT [MONDO:design_pattern] -synonym: "FG Syndrome Type 1" EXACT [NORD:1142] -synonym: "FG syndrome type 1" RELATED [Orphanet:93932] -synonym: "intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED [OMIM:305450] -synonym: "Keller syndrome" RELATED [OMIM:305450] +synonym: "FG Syndrome Type 1" EXACT [NORD:1142, Orphanet:93932] +synonym: "FG syndrome type 1" RELATED [] +synonym: "intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED [] +synonym: "Keller syndrome" RELATED [] synonym: "MED12 FG syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED DEPRECATED [OMIM:305450] -synonym: "OKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305450] -synonym: "Opitz-Kaveggia syndrome" RELATED [MONDO:Lexical, OMIM:305450] -synonym: "Opitz-Kaveggia syndrome, X-linked recessive" EXACT [OMIM:305450, OMIM:genemap2] +synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED DEPRECATED [] +synonym: "OKS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Opitz-Kaveggia syndrome" RELATED [MONDO:Lexical] +synonym: "Opitz-Kaveggia syndrome, X-linked recessive" EXACT [] xref: GARD:2317 {source="MONDO:GARD"} xref: MEDGEN:1768809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NORD:1142 {source="MONDO:NORD"} @@ -236223,7 +236262,7 @@ subset: ordo_disorder {source="Orphanet:97232"} subset: orphanet_rare {source="Orphanet:97232"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fingerprint body myopathy" EXACT [OMIM:305550] +synonym: "fingerprint body myopathy" EXACT [icd11.foundation:1251733531, OMIM:305550, Orphanet:97232] xref: GARD:12720 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:97232/attributed", source="Orphanet:97232/ntbt", source="Orphanet:97232"} xref: icd11.foundation:1251733531 {source="MONDO:equivalentTo"} @@ -236248,13 +236287,13 @@ subset: orphanet_rare {source="Orphanet:2092"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DHOF" RELATED ABBREVIATION [GARD:0006457] -synonym: "FDH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305600] -synonym: "focal dermal hypoplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:305600] -synonym: "focal dermal hypoplasia, X-linked dominant" EXACT [OMIM:305600, OMIM:genemap2] -synonym: "Fodh" RELATED [OMIM:305600] +synonym: "FDH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "focal dermal hypoplasia" EXACT CLINGEN_LABEL [DOID:2120, icd11.foundation:683166625, MONDO:Lexical, NCIT:C84715, OMIM:305600, Orphanet:2092] +synonym: "focal dermal hypoplasia, X-linked dominant" EXACT [] +synonym: "Fodh" RELATED [] synonym: "Goltz Gorlin syndrome" RELATED [GARD:0006457] -synonym: "Goltz syndrome" EXACT [DOID:2120, OMIM:305600, Orphanet:2092] -synonym: "Goltz-Gorlin syndrome" EXACT [OMIM:305600, Orphanet:2092] +synonym: "Goltz syndrome" EXACT [DOID:2120, icd11.foundation:683166625, OMIM:305600, Orphanet:2092] +synonym: "Goltz-Gorlin syndrome" EXACT [DOID:2120, icd11.foundation:683166625, OMIM:305600, Orphanet:2092] xref: DOID:2120 {source="MONDO:equivalentTo"} xref: GARD:6457 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:2092", source="Orphanet:2092/index", source="Orphanet:2092/ntbt"} @@ -236293,7 +236332,7 @@ replaced_by: MONDO:0015942 id: MONDO:0010594 name: obsolete inherited genitourinary tract anomalies comment: Reason: out of scope. Term to consider: none -synonym: "genitourinary tract anomalies" EXACT [MONDO:ambiguous, OMIM:305690] +synonym: "genitourinary tract anomalies" EXACT [MONDO:ambiguous] synonym: "inherited genitourinary tract anomalies (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0000119 {source="MONDO:otherHierarchy"} xref: MESH:C564424 {source="MONDO:obsoleteEquivalent"} @@ -236324,7 +236363,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "membranoproliferative glomerulonephritis, X-linked" EXACT [OMIM:305800] -synonym: "Mesangiocapillary glomerulonephritis, X-linked" RELATED [OMIM:305800] +synonym: "Mesangiocapillary glomerulonephritis, X-linked" RELATED [] xref: MEDGEN:336706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564423 {source="MONDO:equivalentTo"} xref: OMIM:305800 {source="MONDO:equivalentTo"} @@ -236335,7 +236374,7 @@ is_a: MONDO:0018904 {source="Orphanet:54370/btnt"} ! primary membranoproliferati [Term] id: MONDO:0010597 name: glutamyl ribose-5-phosphate storage disease -synonym: "ADP-ribose Protein hydrolase deficiency" RELATED [OMIM:305920] +synonym: "ADP-ribose Protein hydrolase deficiency" RELATED [] synonym: "glutamyl ribose-5-phosphate storage disease" EXACT [OMIM:305920] xref: MEDGEN:336179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564422 {source="MONDO:equivalentTo"} @@ -236352,28 +236391,28 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "glycogen storage disease 8" RELATED [GARD:0006538] synonym: "glycogen storage disease caused by mutation in PHKA2" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease IXa" BROAD [DOID:0111042] +synonym: "glycogen storage disease IXa" BROAD [] synonym: "glycogen storage disease IXa1" EXACT [MONDO:Lexical, OMIM:306000] synonym: "glycogen storage disease type 9A" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/] synonym: "glycogen storage disease type IXa" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDORULE:5] synonym: "glycogen storage disease type VIII" EXACT [DOID:2751, EFO:1000952, MONDORULE:3] -synonym: "glycogen storage disease VIII" EXACT [GARD:0006538, MONDO:0006772, OMIM:306000] -synonym: "glycogen storage disease VIII, formerly" RELATED [OMIM:306000] -synonym: "glycogen storage disease, type IXa1, X-linked recessive" EXACT [OMIM:306000, OMIM:genemap2] -synonym: "glycogen storage disease, type IXa2, X-linked recessive" EXACT [OMIM:306000, OMIM:genemap2] +synonym: "glycogen storage disease VIII" EXACT [DOID:2751, GARD:0006538, MONDO:0006772] +synonym: "glycogen storage disease VIII, formerly" RELATED [] +synonym: "glycogen storage disease, type IXa1, X-linked recessive" EXACT [] +synonym: "glycogen storage disease, type IXa2, X-linked recessive" EXACT [] synonym: "glycogenosis type 8" RELATED [GARD:0006538] synonym: "glycogenosis type 9A" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/] synonym: "glycogenosis type IXa" EXACT [DOID:0111042, https://www.ncbi.nlm.nih.gov/books/NBK55061/] synonym: "glycogenosis type VIII" EXACT [DOID:2751] synonym: "GSD type 9A" EXACT [DOID:0111042] synonym: "GSD type IXa" EXACT [DOID:0111042] -synonym: "GSD VIII" RELATED [OMIM:306000] -synonym: "GSD VIII, formerly" RELATED [OMIM:306000] +synonym: "GSD VIII" RELATED [] +synonym: "GSD VIII, formerly" RELATED [] synonym: "GSD9A" EXACT ABBREVIATION [DOID:0111042] -synonym: "GSD9A1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306000] +synonym: "GSD9A1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hepatic glycogen phosphorylase kinase deficiency" EXACT [DOID:2751] synonym: "hepatic phosphorylase kinase deficiency" RELATED [GARD:0006538] -synonym: "liver glycogenosis, X-linked, type 1" RELATED [OMIM:306000] +synonym: "liver glycogenosis, X-linked, type 1" RELATED [] synonym: "PHKA2 glycogen storage disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PHKA2-related glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] synonym: "phosphorylase kinase deficiency of liver" RELATED [GARD:0006538] @@ -236421,16 +236460,16 @@ name: granulomatous disease, chronic, X-linked subset: gard_rare {source="GARD:15294", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CDGX" EXACT ABBREVIATION [OMIM:306400] +synonym: "CDGX" EXACT ABBREVIATION [DOID:0070195] synonym: "CGD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:306400] -synonym: "chronic granulomatous disease, atypical" EXACT [OMIM:306400] +synonym: "chronic granulomatous disease, atypical" EXACT [] synonym: "chronic granulomatous disease, X-linked" EXACT [OMIM:306400] -synonym: "chronic granulomatous disease, X-linked, X-linked recessive" EXACT [OMIM:306400, OMIM:genemap2] +synonym: "chronic granulomatous disease, X-linked, X-linked recessive" EXACT [] synonym: "cytochrome B-negative granulomatous disease, chronic, X-linked" EXACT [OMIM:306400] -synonym: "cytochrome B-positive granulomatous disease, chronic, X-linked" EXACT [OMIM:306400] -synonym: "granulomatous disease, chronic, autosomal dominant type" EXACT [OMIM:138990] +synonym: "cytochrome B-positive granulomatous disease, chronic, X-linked" EXACT [] +synonym: "granulomatous disease, chronic, autosomal dominant type" EXACT [] synonym: "granulomatous disease, chronic, X-linked" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:306400] -synonym: "granulomatous disease, chronic, X-linked, variant" EXACT [OMIM:306400] +synonym: "granulomatous disease, chronic, X-linked, variant" EXACT [] xref: DOID:0070190 {source="MONDO:equivalentObsolete"} xref: DOID:0070195 {source="MONDO:equivalentTo"} xref: GARD:15294 {source="MONDO:GARD"} @@ -236450,7 +236489,7 @@ id: MONDO:0010601 name: obsolete gynecomastia, familial def: "OBSOLETE. An instance of gynecomastia that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] comment: Obsoleted in OMIM -synonym: "gynecomastia, familial" EXACT [OMIM:306500] +synonym: "gynecomastia, familial" EXACT [] synonym: "hereditary gynecomastia" EXACT [MONDO:patterns/hereditary] xref: MESH:C564416 {source="MONDO:obsoleteEquivalent"} xref: OMIM:306500 {source="MONDO:obsoleteEquivalentObsolete"} @@ -236471,27 +236510,27 @@ subset: orphanet_rare {source="Orphanet:98878"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal haemophilia a" RELATED OMO:0003005 [] -synonym: "autosomal hemophilia a" RELATED [OMIM:134500] +synonym: "autosomal hemophilia a" RELATED [] synonym: "classic haemophilia" RELATED OMO:0003005 [] synonym: "classic hemophilia" RELATED [GARD:0006591] synonym: "classical haemophilia" RELATED OMO:0003005 [] synonym: "classical hemophilia" RELATED [GARD:0006591] -synonym: "congenital factor VIII disorder" EXACT [DOID:12134, ICD9CM:286.0] -synonym: "factor 8 deficiency" RELATED [GARD:0006591, OMIM:134500] -synonym: "factor VIII deficiency" EXACT [MONDO:0007596, Orphanet:98878] +synonym: "congenital factor VIII disorder" EXACT [DOID:12134, icd11.foundation:337607970, ICD9CM:286.0] +synonym: "factor 8 deficiency" RELATED [GARD:0006591] +synonym: "factor VIII deficiency" EXACT [DOID:12134, MONDO:0007596, NCIT:C27146] synonym: "Haemophilia A" RELATED [GARD:0006591] synonym: "haemophilia A, congenital" RELATED OMO:0003005 [] synonym: "haemophilia a, X-linked recessive" EXACT OMO:0003005 [] synonym: "haemophilia type A" EXACT OMO:0003005 [] synonym: "haemophilia type a" EXACT OMO:0003005 [] synonym: "hem A" RELATED [GARD:0006591] -synonym: "HEMA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306700] -synonym: "hemophilia A" EXACT CLINGEN_LABEL [DOID:12134, MONDO:Lexical, OMIM:306700] +synonym: "HEMA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hemophilia A" EXACT CLINGEN_LABEL [DOID:12134, MONDO:Lexical, NCIT:C27146, OMIM:306700, Orphanet:98878] synonym: "hemophilia A, congenital" RELATED [GARD:0006591] -synonym: "hemophilia a, X-linked recessive" EXACT [OMIM:306700, OMIM:genemap2] -synonym: "hemophilia type A" EXACT [MONDORULE:1, Orphanet:98878] -synonym: "hemophilia type a" EXACT [MONDORULE:1, OMIM:306700] -synonym: "hemophilia, classic" RELATED [OMIM:306700] +synonym: "hemophilia a, X-linked recessive" EXACT [] +synonym: "hemophilia type A" EXACT [MONDORULE:1] +synonym: "hemophilia type a" EXACT [MONDORULE:1] +synonym: "hemophilia, classic" RELATED [] synonym: "hereditary Factor VIII deficiency" EXACT [NCIT:C27146] synonym: "hereditary Factor VIII deficiency disease" EXACT [NCIT:C27146] synonym: "Subhemophilia" EXACT [DOID:12134] @@ -236549,27 +236588,27 @@ subset: ordo_disorder {source="Orphanet:98879"} subset: orphanet_rare {source="Orphanet:98879"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Christmas disease" EXACT [OMIM:306900, Orphanet:98879] -synonym: "congenital factor IX deficiency" EXACT [DOID:12259] +synonym: "Christmas disease" EXACT [icd11.foundation:1901375668, NCIT:C26721, OMIM:306900, Orphanet:98879] +synonym: "congenital factor IX deficiency" EXACT [DOID:12259, Orphanet:98879] synonym: "congenital factor IX disorder" EXACT [DOID:12259, ICD9CM:286.1] synonym: "deficiency, functional factor IX" EXACT [DOID:12259] -synonym: "F9 deficiency" RELATED [OMIM:306900] -synonym: "factor 9 deficiency" RELATED [OMIM:306900] -synonym: "factor IX deficiency" EXACT [DOID:12259, Orphanet:98879] +synonym: "F9 deficiency" RELATED [] +synonym: "factor 9 deficiency" RELATED [] +synonym: "factor IX deficiency" EXACT [DOID:12259, NCIT:C26721] synonym: "haemophilia B Leyden" RELATED OMO:0003005 [] synonym: "haemophilia B(M)" RELATED OMO:0003005 [] synonym: "haemophilia b, X-linked recessive" EXACT OMO:0003005 [] synonym: "haemophilia type B" EXACT OMO:0003005 [] synonym: "hem B" RELATED [GARD:0008732] -synonym: "HEMB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306900] -synonym: "hemophilia B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:306900] -synonym: "hemophilia B Leyden" RELATED [OMIM:306900] -synonym: "hemophilia B(M)" RELATED [OMIM:306900] -synonym: "hemophilia b, X-linked recessive" EXACT [OMIM:306900, OMIM:genemap2] -synonym: "hemophilia type B" EXACT [DOID:12259, MONDORULE:1, OMIM:306900, Orphanet:98879] +synonym: "HEMB" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hemophilia B" EXACT CLINGEN_LABEL [DOID:12259, MONDO:Lexical, NCIT:C26721, OMIM:306900, Orphanet:98879] +synonym: "hemophilia B Leyden" RELATED [] +synonym: "hemophilia B(M)" RELATED [] +synonym: "hemophilia b, X-linked recessive" EXACT [] +synonym: "hemophilia type B" EXACT [MONDORULE:1] synonym: "hereditary Factor IX deficiency" EXACT [NCIT:C26721] synonym: "hereditary Factor IX deficiency disease" EXACT [NCIT:C26721] -synonym: "plasma thromboplastin component deficiency" RELATED [OMIM:306900] +synonym: "plasma thromboplastin component deficiency" RELATED [] xref: DOID:12259 {source="MONDO:equivalentTo"} xref: GARD:8732 {source="MONDO:GARD"} xref: ICD10CM:D67 {source="DOID:12259", source="Orphanet:98879", source="Orphanet:98879/specific", source="Orphanet:98879/e"} @@ -236626,15 +236665,15 @@ def: "X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that subset: gard_rare {source="GARD:8591", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "congenital heart defects, multiple types, 1, X-linked" RELATED [OMIM:306955] -synonym: "congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive" EXACT [OMIM:306955, OMIM:genemap2] -synonym: "dextrocardia with Other Cardiac malformations" RELATED [OMIM:306955] +synonym: "congenital heart defects, multiple types, 1, X-linked" RELATED [] +synonym: "congenital heart defects, nonsyndromic, 1, X-linked, X-linked recessive" EXACT [] +synonym: "dextrocardia with Other Cardiac malformations" RELATED [] synonym: "heterotaxy, visceral, 1, X-linked" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:306955] -synonym: "heterotaxy, visceral, 1, X-linked, X-linked recessive" EXACT [OMIM:306955, OMIM:genemap2] +synonym: "heterotaxy, visceral, 1, X-linked, X-linked recessive" EXACT [] synonym: "heterotaxy, visceral, X-linked" RELATED [GARD:0008591] -synonym: "HTX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:306955] -synonym: "laterality, X-linked" RELATED [OMIM:306955] -synonym: "situs inversus, Complex Cardiac defects, and splenic defects, X-linked" RELATED [OMIM:306955] +synonym: "HTX1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "laterality, X-linked" RELATED [] +synonym: "situs inversus, Complex Cardiac defects, and splenic defects, X-linked" RELATED [] synonym: "visceral heterotaxy caused by mutation in ZIC3" EXACT [MONDO:design_pattern] synonym: "X-linked visceral heterotaxy 1" RELATED [GARD:0008591] synonym: "ZIC3 visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -236655,7 +236694,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8591/x-linke [Term] id: MONDO:0010608 name: Hhhh syndrome -synonym: "hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome" RELATED [OMIM:306960] +synonym: "hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome" RELATED [] synonym: "Hhhh syndrome" EXACT [OMIM:306960] xref: MEDGEN:336099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564411 {source="MONDO:equivalentTo"} @@ -236679,9 +236718,9 @@ subset: ordo_disorder {source="Orphanet:2570"} subset: ordo_malformation_syndrome {source="Orphanet:2570"} subset: orphanet_rare {source="Orphanet:2570"} subset: rare -synonym: "holoprosencephaly with fetal akinesia/hypokinesia sequence" RELATED [OMIM:306990] +synonym: "holoprosencephaly with fetal akinesia/hypokinesia sequence" RELATED [] synonym: "holoprosencephaly with foetal akinesia/hypokinesia sequence" RELATED OMO:0003005 [] -synonym: "holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome" EXACT [Orphanet:2570] +synonym: "holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome" EXACT [] synonym: "Morse-Rawnsley-Sargent syndrome" EXACT [Orphanet:2570] xref: GARD:3788 {source="MONDO:GARD"} xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="Orphanet:2570/ntbt", source="Orphanet:2570"} @@ -236704,18 +236743,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:2182"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aqueductal stenosis, X-linked" RELATED [OMIM:307000] +synonym: "aqueductal stenosis, X-linked" RELATED [] synonym: "Bickers-Adams syndrome" EXACT [Orphanet:2182] -synonym: "HSAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:307000, Orphanet:2182] -synonym: "HSAS1" RELATED ABBREVIATION [OMIM:307000] +synonym: "HSAS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:2182] +synonym: "HSAS1" RELATED ABBREVIATION [] synonym: "HYCX" RELATED ABBREVIATION [GARD:0000434] -synonym: "hydrocephalus due to aqueductal stenosis, X-linked recessive" EXACT [OMIM:307000, OMIM:genemap2] -synonym: "hydrocephalus due to congenital stenosis of aqueduct of Sylvius" RELATED [MONDO:Lexical, OMIM:307000] -synonym: "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive" EXACT [OMIM:307000, OMIM:genemap2] -synonym: "hydrocephalus with hirschsprung disease, X-linked recessive" EXACT [OMIM:307000, OMIM:genemap2] -synonym: "hydrocephalus with stenosis of the aqueduct of Sylvius" EXACT [Orphanet:2182] -synonym: "hydrocephalus, X-linked" RELATED [OMIM:307000] -synonym: "hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction" RELATED [OMIM:307000] +synonym: "hydrocephalus due to aqueductal stenosis, X-linked recessive" EXACT [] +synonym: "hydrocephalus due to congenital stenosis of aqueduct of Sylvius" RELATED [MONDO:Lexical] +synonym: "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive" EXACT [] +synonym: "hydrocephalus with hirschsprung disease, X-linked recessive" EXACT [] +synonym: "hydrocephalus with stenosis of the aqueduct of Sylvius" EXACT [icd11.foundation:1284135636, Orphanet:2182] +synonym: "hydrocephalus, X-linked" RELATED [] +synonym: "hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction" RELATED [] synonym: "X-linked acqueductal stenosis" EXACT [Orphanet:2182] synonym: "X-linked HSAS" EXACT [Orphanet:2182] synonym: "X-linked hydrocephalus" EXACT [Orphanet:2182] @@ -236752,8 +236791,8 @@ subset: orphanet_rare {source="Orphanet:1397"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebellum agenesis hydrocephaly" RELATED [GARD:0001200] -synonym: "hydrocephalus with cerebellar agenesis" RELATED [GARD:0001200, OMIM:307010] -synonym: "X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome" EXACT [Orphanet:1397] +synonym: "hydrocephalus with cerebellar agenesis" RELATED [GARD:0001200] +synonym: "X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome" EXACT [] xref: GARD:1200 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:1397/attributed", source="Orphanet:1397/ntbt", source="Orphanet:1397"} xref: MEDGEN:375335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -236775,12 +236814,12 @@ subset: gard_rare {source="GARD:21311", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:308993"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GK deficiency" RELATED [OMIM:307030] -synonym: "GK1 deficiency" RELATED [OMIM:307030] -synonym: "GKD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307030] -synonym: "glycerol kinase deficiency" EXACT [MONDO:0017702, MONDO:Lexical, OMIM:307030] -synonym: "glycerol kinase deficiency, X-linked recessive" EXACT [OMIM:307030, OMIM:genemap2] -synonym: "hyperglycerolemia" RELATED [OMIM:307030] +synonym: "GK deficiency" RELATED [] +synonym: "GK1 deficiency" RELATED [] +synonym: "GKD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "glycerol kinase deficiency" EXACT [DOID:0060363, MONDO:0017702, MONDO:Lexical, OMIM:307030, Orphanet:308993] +synonym: "glycerol kinase deficiency, X-linked recessive" EXACT [] +synonym: "hyperglycerolemia" RELATED [] synonym: "inborn error of glycerol kinase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glycerol kinase activity disorder" EXACT [] synonym: "rare inborn error of glycerol kinase activity" EXACT [MONDO:patterns/inborn_metabolic] @@ -236811,18 +236850,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79495"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cgh" RELATED [OMIM:307150] -synonym: "chromosome Xq27.1 Interchromosomal insertion syndrome" RELATED [OMIM:307150] +synonym: "Cgh" RELATED [] +synonym: "chromosome Xq27.1 Interchromosomal insertion syndrome" RELATED [] synonym: "chromosome Xq27.1 interchromosomal insertion syndrome" RELATED [GARD:0002863] synonym: "congenital generalised hypertrichosis, Macias-Flores type" EXACT OMO:0003005 [] synonym: "congenital generalized hypertrichosis, Macias-Flores type" EXACT [Orphanet:79495] -synonym: "hCG" RELATED [OMIM:307150] -synonym: "HTC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307150] +synonym: "hCG" RELATED [] +synonym: "HTC2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hypertrichosis congenital generalised X-linked" RELATED OMO:0003005 [] synonym: "hypertrichosis congenital generalized X-linked" RELATED [GARD:0002863] synonym: "hypertrichosis, congenital generalised" RELATED OMO:0003005 [] -synonym: "hypertrichosis, congenital generalized" RELATED [MONDO:Lexical, OMIM:307150] -synonym: "hypertrichosis, congenital generalized, X-linked dominant" EXACT [OMIM:307150, OMIM:genemap2] +synonym: "hypertrichosis, congenital generalized" RELATED [MONDO:Lexical] +synonym: "hypertrichosis, congenital generalized, X-linked dominant" EXACT [] synonym: "Macias Flores-Garcia Cruz-Rivera syndrome" EXACT [Orphanet:79495] synonym: "Macias-Flores Garcia-Cruz Rivera syndrome" RELATED [GARD:0002863] xref: GARD:2863 {source="MONDO:GARD"} @@ -236848,22 +236887,22 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:231692"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "agammaglobulinemia and isolated Growth hormone deficiency, X-linked" RELATED [OMIM:307200] +synonym: "agammaglobulinemia and isolated Growth hormone deficiency, X-linked" RELATED [] synonym: "congenital IGHD type III" EXACT [DOID:0060875, Orphanet:231692] synonym: "congenital isolated GH deficiency type III" EXACT [DOID:0060875, Orphanet:231692] synonym: "congenital isolated growth hormone deficiency type III" EXACT [DOID:0060875, Orphanet:231692] synonym: "Fleisher syndrome" EXACT [DOID:0060875, OMIM:307200] -synonym: "Growth hormone deficiency with hypogammaglobulinemia" RELATED [OMIM:307200] +synonym: "Growth hormone deficiency with hypogammaglobulinemia" RELATED [] synonym: "growth hormone deficiency with hypogammaglobulinemia" EXACT [DOID:0060875] -synonym: "hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked" RELATED [OMIM:307200] -synonym: "IGHD 3" RELATED [OMIM:307200] -synonym: "IGHD III" EXACT [DOID:0060875] -synonym: "IGHD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307200] +synonym: "hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked" RELATED [] +synonym: "IGHD 3" RELATED [] +synonym: "IGHD III" EXACT ABBREVIATION [DOID:0060875] +synonym: "IGHD3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "isolated growth hormone deficiency type 3" RELATED [GARD:0003921] -synonym: "isolated growth hormone deficiency type III" EXACT CLINGEN_LABEL [] -synonym: "isolated growth hormone deficiency, type 3" RELATED [OMIM:307200] -synonym: "isolated growth hormone deficiency, type III" RELATED [MONDO:Lexical, OMIM:307200] -synonym: "isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive" EXACT [OMIM:307200, OMIM:genemap2] +synonym: "isolated growth hormone deficiency type III" EXACT CLINGEN_LABEL [DOID:0060875, Orphanet:231692] +synonym: "isolated growth hormone deficiency, type 3" RELATED [] +synonym: "isolated growth hormone deficiency, type III" RELATED [MONDO:Lexical] +synonym: "isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive" EXACT [] synonym: "X-linked agammaglobulinemia and isolated growth hormone deficiency" EXACT [DOID:0060875] synonym: "X-linked hypogammaglobulinemia and isolated growth hormone deficiency" EXACT [DOID:0060875] synonym: "X-linked IGHD" EXACT [DOID:0060875, Orphanet:231692] @@ -236901,8 +236940,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2234"} subset: orphanet_rare {source="Orphanet:2234"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypogonadism, MALE, with intellectual disability and skeletal anomalies" RELATED [OMIM:307500] -synonym: "hypogonadism, MALE, with mental retardation and skeletal anomalies" RELATED DEPRECATED [OMIM:307500] +synonym: "hypogonadism, MALE, with intellectual disability and skeletal anomalies" RELATED [] +synonym: "hypogonadism, MALE, with mental retardation and skeletal anomalies" RELATED DEPRECATED [] synonym: "Sohval-Soffer syndrome" EXACT [Orphanet:2234] xref: GARD:4899 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2234", source="Orphanet:2234/attributed", source="Orphanet:2234/ntbt"} @@ -236925,10 +236964,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:2239"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypoparathyroidism, X-linked" RELATED [MONDO:Lexical, OMIM:307700] -synonym: "HYPX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307700] -synonym: "parathyroid glands, agenesis of" RELATED [OMIM:307700] -synonym: "X-linked hypoparathyroidism" EXACT [NCIT:C131079] +synonym: "hypoparathyroidism, X-linked" RELATED [MONDO:Lexical] +synonym: "HYPX" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "parathyroid glands, agenesis of" RELATED [] +synonym: "X-linked hypoparathyroidism" EXACT [DOID:0111388, NCIT:C131079] xref: DOID:0111388 {source="MONDO:equivalentTo"} xref: GARD:16589 {source="MONDO:GARD"} xref: ICD10CM:E20.8 {source="Orphanet:2239", source="Orphanet:2239/attributed", source="Orphanet:2239/ntbt"} @@ -236955,24 +236994,24 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary hypophosphatemic rickets, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "HPDR" RELATED ABBREVIATION [GARD:0012943] -synonym: "HYP" RELATED ABBREVIATION [OMIM:307800] +synonym: "HYP" RELATED ABBREVIATION [] synonym: "hypophophatemia, X-linked" RELATED [GARD:0012943] synonym: "hypophophatemic vitamin D-resistant rickets" RELATED [GARD:0012943] synonym: "hypophosphatemia, vitamin D-resistant rickets" EXACT [DOID:0050445] -synonym: "hypophosphatemia, X-linked" RELATED [OMIM:307800] +synonym: "hypophosphatemia, X-linked" RELATED [] synonym: "hypophosphatemic rickets X-linked dominant" EXACT [DOID:0050445] synonym: "hypophosphatemic rickets, X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "hypophosphatemic rickets, X-linked dominant" RELATED [MONDO:Lexical, OMIM:307800] -synonym: "hypophosphatemic rickets, X-linked dominant, X-linked dominant" EXACT [OMIM:307800, OMIM:genemap2] -synonym: "hypophosphatemic vitamin D-resistant rickets" RELATED [OMIM:307800] -synonym: "rickets, vitamin D-resistant" EXACT [DOID:0050445] +synonym: "hypophosphatemic rickets, X-linked dominant" RELATED [MONDO:Lexical] +synonym: "hypophosphatemic rickets, X-linked dominant, X-linked dominant" EXACT [] +synonym: "hypophosphatemic vitamin D-resistant rickets" RELATED [] +synonym: "rickets, vitamin D-resistant" EXACT [] synonym: "vitamin D-resistant rickets, X-linked" EXACT [DOID:0050445, OMIM:307800] -synonym: "X-linked dominant hypophosphatemic rickets" EXACT CLINGEN_LABEL [] +synonym: "X-linked dominant hypophosphatemic rickets" EXACT CLINGEN_LABEL [DOID:0050445, NCIT:C85234] synonym: "X-linked hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern] -synonym: "X-linked hypophosphatemia" BROAD [DOID:0050445] -synonym: "X-linked hypophosphatemic rickets" BROAD [Orphanet:89936] +synonym: "X-linked hypophosphatemia" BROAD [] +synonym: "X-linked hypophosphatemic rickets" BROAD [] synonym: "XLH" EXACT ABBREVIATION [Orphanet:89936] -synonym: "XLHR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:307800] +synonym: "XLHR" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050445 {source="MONDO:equivalentTo"} xref: GARD:12943 {source="MONDO:GARD"} xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:89936", source="Orphanet:89936/attributed", source="Orphanet:89936/ntbt"} @@ -237024,14 +237063,14 @@ subset: ordo_disorder {source="Orphanet:139"} subset: orphanet_rare {source="Orphanet:139"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "child nevus" EXACT [Orphanet:139] -synonym: "CHILD syndrome" EXACT CLINGEN_LABEL [] -synonym: "child syndrome" EXACT [OMIM:308050] -synonym: "CHILD syndrome, X-linked dominant" EXACT [OMIM:308050, OMIM:genemap2] -synonym: "congenital hemidysplasia with ichthyosiform erythroderma and limb defects" RELATED [OMIM:308050] +synonym: "child nevus" EXACT [DOID:0111822, Orphanet:139] +synonym: "CHILD syndrome" EXACT CLINGEN_LABEL [DOID:0111822, OMIM:308050, Orphanet:139] +synonym: "child syndrome" EXACT [DOID:0111822, OMIM:308050, Orphanet:139] +synonym: "CHILD syndrome, X-linked dominant" EXACT [] +synonym: "congenital hemidysplasia with ichthyosiform erythroderma and limb defects" RELATED [] synonym: "congenital hemidysplasia with ichthyosiform nevus and limb defects" RELATED [GARD:0006039] -synonym: "congenital hemidysplasia with ichthyosiform nevus and limbs defects" EXACT [Orphanet:139] -synonym: "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs" RELATED [OMIM:308050] +synonym: "congenital hemidysplasia with ichthyosiform nevus and limbs defects" EXACT [DOID:0111822] +synonym: "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs" RELATED [] synonym: "Ichthyosis, CHILD Syndrome" EXACT [NORD:1284] synonym: "ichthyosis, child syndrome" RELATED [GARD:0006039] xref: DOID:0111822 {source="MONDO:equivalentTo"} @@ -237070,22 +237109,22 @@ subset: orphanet_rare {source="Orphanet:461"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ichthyosis (disease), X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "ichthyosis , X-linked, X-linked recessive" EXACT [OMIM:308100, OMIM:genemap2] +synonym: "ichthyosis , X-linked, X-linked recessive" EXACT [] synonym: "Ichthyosis, X Linked" EXACT [NORD:1293] -synonym: "ichthyosis, X-linked" RELATED [MONDO:Lexical, OMIM:308100] -synonym: "ichthyosis, X-linked, complicated" RELATED [OMIM:308100] -synonym: "placental steroid sulfatase deficiency" RELATED [OMIM:308100] -synonym: "recessive X-linked ichthyosis" EXACT CLINGEN_LABEL [] +synonym: "ichthyosis, X-linked" RELATED [MONDO:Lexical] +synonym: "ichthyosis, X-linked, complicated" RELATED [] +synonym: "placental steroid sulfatase deficiency" RELATED [] +synonym: "recessive X-linked ichthyosis" EXACT CLINGEN_LABEL [Orphanet:461] synonym: "RXLI" EXACT ABBREVIATION [Orphanet:461] synonym: "SSDD" RELATED ABBREVIATION [GARD:0007904] synonym: "steroid sulfatase deficiency" EXACT [DECIPHER:27, OMIM:308100, Orphanet:461] -synonym: "steroid sulfatase deficiency disease" RELATED [OMIM:308100] -synonym: "STS deficiency" RELATED [OMIM:308100] +synonym: "steroid sulfatase deficiency disease" RELATED [] +synonym: "STS deficiency" RELATED [] synonym: "X linked ichthyosis" RELATED [GARD:0007904] -synonym: "X-linked ichthyosis" EXACT [Orphanet:461] +synonym: "X-linked ichthyosis" EXACT [DOID:1700, icd11.foundation:1466487054, NCIT:C84779, Orphanet:461] synonym: "X-linked ichthyosis with steryl-sulphatase deficiency" EXACT [DOID:1700] synonym: "X-linked placental steryl-sulphatase deficiency" EXACT [DOID:1700] -synonym: "X-linked recessive ichthyosis" EXACT [DOID:1700] +synonym: "X-linked recessive ichthyosis" EXACT [DOID:1700, icd11.foundation:1466487054] synonym: "XLI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:308100, Orphanet:461] xref: DECIPHER:27 {source="MONDO:equivalentTo"} xref: DOID:1700 {source="MONDO:equivalentTo"} @@ -237123,9 +237162,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010623 name: ichthyosis and male hypogonadism synonym: "ichthyosis and male hypogonadism" EXACT [OMIM:308200] -synonym: "Ichthyosis-male hypogonadism syndrome" EXACT [Orphanet:431] -synonym: "rud syndrome" RELATED [OMIM:308200] -synonym: "Ruds" RELATED [OMIM:308200] +synonym: "Ichthyosis-male hypogonadism syndrome" EXACT [] +synonym: "rud syndrome" RELATED [] +synonym: "Ruds" RELATED [] xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:333456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537365 {source="MONDO:equivalentTo"} @@ -237147,7 +237186,7 @@ id: MONDO:0010625 name: immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Gpl115 deficiency" RELATED [OMIM:308220] +synonym: "Gpl115 deficiency" RELATED [] synonym: "immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein" EXACT [OMIM:308220] xref: MEDGEN:326624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564120 {source="MONDO:equivalentTo"} @@ -237167,29 +237206,29 @@ subset: nord_rare {source="NORD:1261", source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:101088"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CD40 ligand deficiency" RELATED [NCIT:C61244] +synonym: "CD40 ligand deficiency" RELATED [] synonym: "HIGM" RELATED ABBREVIATION [GARD:0000073] -synonym: "HIGM1" EXACT ABBREVIATION [GARD:0000073, MONDO:Lexical, OMIM:308230, Orphanet:101088] -synonym: "HIGMX-1" EXACT [DOID:0060022] +synonym: "HIGM1" EXACT ABBREVIATION [DOID:6620, GARD:0000073, MONDO:Lexical, OMIM:308230, Orphanet:101088] +synonym: "HIGMX-1" EXACT ABBREVIATION [DOID:0060022] synonym: "hyper IgM immunodeficiency, X-linked" RELATED [GARD:0000073] synonym: "hyper IgM syndrome" RELATED [GARD:0000073] synonym: "hyper IgM syndrome 1" RELATED [GARD:0000073] synonym: "Hyper IgM Syndromes" EXACT [NORD:1261] -synonym: "hyper-IgM immunodeficiency, X-linked" RELATED [OMIM:308230] -synonym: "hyper-IgM syndrome" RELATED [OMIM:308230] -synonym: "hyper-IgM syndrome 1" RELATED [OMIM:308230] +synonym: "hyper-IgM immunodeficiency, X-linked" RELATED [] +synonym: "hyper-IgM syndrome" RELATED [] +synonym: "hyper-IgM syndrome 1" RELATED [] synonym: "hyper-IgM syndrome due to CD40 ligand deficiency" EXACT [Orphanet:101088] synonym: "hyper-IgM syndrome due to CD40L deficiency" EXACT [Orphanet:101088] -synonym: "hyper-IgM syndrome type 1" EXACT CLINGEN_LABEL [Orphanet:101088] +synonym: "hyper-IgM syndrome type 1" EXACT CLINGEN_LABEL [DOID:6620, Orphanet:101088] synonym: "hyper-IgM syndrome, X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "hyperimmunoglobulin M syndrome" EXACT [DOID:6620] +synonym: "hyperimmunoglobulin M syndrome" EXACT [] synonym: "IHIS" RELATED ABBREVIATION [GARD:0000073] -synonym: "immunodeficiency 3" RELATED [OMIM:308230] +synonym: "immunodeficiency 3" RELATED [] synonym: "immunodeficiency with hyper IgM type 1" RELATED [GARD:0000073] -synonym: "immunodeficiency with hyper-IgM, type 1" RELATED [MONDO:Lexical, OMIM:308230] -synonym: "immunodeficiency, X-linked, with hyper-IgM, X-linked recessive" EXACT [OMIM:308230, OMIM:genemap2] +synonym: "immunodeficiency with hyper-IgM, type 1" RELATED [MONDO:Lexical] +synonym: "immunodeficiency, X-linked, with hyper-IgM, X-linked recessive" EXACT [] synonym: "X-linked hyper IgM syndrome" RELATED [GARD:0000073] -synonym: "X-linked hyper-IgM syndrome" EXACT [DOID:0060022, GARD:0000073] +synonym: "X-linked hyper-IgM syndrome" EXACT [DOID:0060022, GARD:0000073, Orphanet:101088] synonym: "XHIGM" EXACT ABBREVIATION [Orphanet:101088] synonym: "XHIM" RELATED ABBREVIATION [GARD:0000073] xref: DOID:0060022 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -237224,20 +237263,20 @@ subset: ordo_group_of_disorders {source="Orphanet:2442"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "Duncan disease" EXACT [Orphanet:2442] +synonym: "Duncan disease" EXACT [NCIT:C61246, Orphanet:2442] synonym: "lymphoproliferative syndrome X-linked 1" RELATED [GARD:0007906] synonym: "lymphoproliferative syndrome, X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "lymphoproliferative syndrome, X-linked, 1" RELATED [GARD:0007906, MONDO:Lexical, OMIM:308240] -synonym: "lymphoproliferative syndrome, X-linked, type 1" NARROW [MONDORULE:1, OMIM:308240] +synonym: "lymphoproliferative syndrome, X-linked, 1" RELATED [GARD:0007906, MONDO:Lexical] +synonym: "lymphoproliferative syndrome, X-linked, type 1" NARROW [MONDORULE:1] synonym: "Purtilo syndrome" EXACT [Orphanet:2442] synonym: "SH2D1A-related lymphoproliferative disease, X-linked" RELATED [GARD:0007906] synonym: "X linked Lymphoproliferative Syndrome" EXACT [NORD:1865] -synonym: "X-linked lymphoproliferative disease" RELATED [Orphanet:2442] +synonym: "X-linked lymphoproliferative disease" RELATED [] synonym: "X-linked lymphoproliferative syndrome" EXACT [NCIT:C61246] -synonym: "X-linked lymphoproliferative syndrome 1" RELATED [DOID:0060705] -synonym: "X-linked lymphoproliferative syndrome type 1" NARROW [DOID:0060705, MONDORULE:1] -synonym: "XLP" RELATED ABBREVIATION [Orphanet:2442] -synonym: "XLP1" NARROW ABBREVIATION [DOID:0060705] +synonym: "X-linked lymphoproliferative syndrome 1" RELATED [] +synonym: "X-linked lymphoproliferative syndrome type 1" NARROW [MONDORULE:1] +synonym: "XLP" RELATED ABBREVIATION [] +synonym: "XLP1" NARROW ABBREVIATION [] xref: DOID:0060705 {source="MONDO:equivalentTo"} xref: GARD:10915 {source="MONDO:GARD"} xref: ICD10CM:D82.3 {source="Orphanet:2442", source="Orphanet:2442/e", source="DOID:0060705", source="Orphanet:2442/specific"} @@ -237299,16 +237338,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:464"} subset: orphanet_rare {source="Orphanet:464"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bloch-Siemens syndrome" EXACT [Orphanet:464] -synonym: "Bloch-Sulzberger syndrome" EXACT [OMIM:308300, Orphanet:464] -synonym: "incontinentia pigmenti" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:308300] -synonym: "Incontinentia pigmenti syndrome" EXACT [DOID:12305] +synonym: "Bloch-Siemens syndrome" EXACT [icd11.foundation:1542530268, Orphanet:464] +synonym: "Bloch-Sulzberger syndrome" EXACT [DOID:12305, icd11.foundation:1542530268, OMIM:308300, Orphanet:464] +synonym: "incontinentia pigmenti" EXACT CLINGEN_LABEL [DOID:12305, icd11.foundation:1542530268, MONDO:Lexical, NCIT:C84787, OMIM:308300, Orphanet:464] +synonym: "Incontinentia pigmenti syndrome" EXACT [DOID:12305, NCIT:C84787] synonym: "Incontinentia pigmenti type 2 (formerly)" RELATED [GARD:0006778] -synonym: "Incontinentia pigmenti, familial Male-lethal type" RELATED [OMIM:308300] -synonym: "Incontinentia pigmenti, type II" RELATED [OMIM:308300] -synonym: "Incontinentia pigmenti, type II, formerly" RELATED [OMIM:308300] -synonym: "incontinentia pigmenti, X-linked dominant" EXACT [OMIM:308300, OMIM:genemap2] -synonym: "IP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:308300] +synonym: "Incontinentia pigmenti, familial Male-lethal type" RELATED [] +synonym: "Incontinentia pigmenti, type II" RELATED [] +synonym: "Incontinentia pigmenti, type II, formerly" RELATED [] +synonym: "incontinentia pigmenti, X-linked dominant" EXACT [] +synonym: "IP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "IP2 (formerly)" RELATED [GARD:0006778] xref: DOID:12305 {source="EFO:1000672", source="MONDO:equivalentTo"} xref: GARD:6778 {source="MONDO:GARD"} @@ -237344,18 +237383,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ARX early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DEE1" EXACT ABBREVIATION [OMIM:308350] -synonym: "developmental and epileptic encephalopathy 1, X-linked recessive" EXACT [OMIM:308350, OMIM:genemap2] +synonym: "DEE1" EXACT ABBREVIATION [DOID:0080468, OMIM:308350] +synonym: "developmental and epileptic encephalopathy 1, X-linked recessive" EXACT [] synonym: "early infantile epileptic encephalopathy caused by mutation in ARX" EXACT [] synonym: "early infantile epileptic encephalopathy caused by mutation in arx" EXACT [MONDO:design_pattern] -synonym: "EIEE1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:308350] +synonym: "EIEE1" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 1" EXACT [MONDO:Lexical, OMIM:308350] -synonym: "epileptic encephalopathy, early infantile, type 1" EXACT [MONDORULE:1, OMIM:308350] -synonym: "infantile epileptic-dyskinetic encephalopathy" RELATED [OMIM:308350] -synonym: "infantile spasm syndrome, X-linked 1" RELATED [OMIM:308350] -synonym: "Ohtahara syndrome, X-linked" RELATED [OMIM:308350] -synonym: "West syndrome, X-linked" RELATED [OMIM:308350] -synonym: "XMESID" RELATED ABBREVIATION [OMIM:308350] +synonym: "epileptic encephalopathy, early infantile, type 1" EXACT [MONDORULE:1] +synonym: "infantile epileptic-dyskinetic encephalopathy" RELATED [] +synonym: "infantile spasm syndrome, X-linked 1" RELATED [] +synonym: "Ohtahara syndrome, X-linked" RELATED [] +synonym: "West syndrome, X-linked" RELATED [] +synonym: "XMESID" RELATED ABBREVIATION [] xref: DOID:0080468 {source="MONDO:equivalentTo"} xref: GARD:15298 {source="MONDO:GARD"} xref: MEDGEN:483052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -237373,7 +237412,7 @@ id: MONDO:0010633 name: iris hypoplasia with glaucoma subset: gard_rare {source="GARD:9171", source="MONDO:GARD"} subset: rare -synonym: "IHG" RELATED ABBREVIATION [GARD:0009171, MESH:C535538, MONDO:Lexical, OMIM:308500] +synonym: "IHG" RELATED ABBREVIATION [GARD:0009171, MESH:C535538, MONDO:Lexical] synonym: "iris hypoplasia and glaucoma" RELATED [GARD:0009171] synonym: "iris hypoplasia with glaucoma" EXACT [MESH:C535538, MONDO:Lexical, OMIM:308500] xref: GARD:9171 {source="MONDO:GARD"} @@ -237405,19 +237444,19 @@ subset: gard_rare {source="GARD:3071", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ANOS1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "anosmic hypogonadism" RELATED [OMIM:308700] -synonym: "dysplasia Olfactogenitalis of De Morsier" RELATED [OMIM:308700] +synonym: "anosmic hypogonadism" RELATED [] +synonym: "dysplasia Olfactogenitalis of De Morsier" RELATED [] synonym: "dysplasia olfactogenitalis of de Morsier" EXACT [DOID:0090094] -synonym: "HH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:308700] -synonym: "hypogonadotropic hypogonadism 1 with or without anosmia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:308700] -synonym: "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive" EXACT [OMIM:308700, OMIM:genemap2] -synonym: "hypogonadotropic hypogonadism and anosmia" RELATED [OMIM:308700] +synonym: "HH1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 1 with or without anosmia" EXACT CLINGEN_LABEL [DOID:0090094, MONDO:Lexical, OMIM:308700] +synonym: "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), X-linked recessive" EXACT [] +synonym: "hypogonadotropic hypogonadism and anosmia" RELATED [] synonym: "hypogonadotropic hypogonadism caused by mutation in ANOS1" EXACT [MONDO:design_pattern] synonym: "KAL1" RELATED ABBREVIATION [GARD:0003071] -synonym: "Kallmann syndrome 1" RELATED [OMIM:308700] +synonym: "Kallmann syndrome 1" RELATED [] synonym: "Kallmann syndrome, type 1, X-linked" RELATED [GARD:0003071] synonym: "Kallmann syndrome, X-linked" RELATED [GARD:0003071] -synonym: "KMS" RELATED ABBREVIATION [OMIM:308700] +synonym: "KMS" RELATED ABBREVIATION [] xref: DOID:0090094 {source="MONDO:equivalentTo"} xref: GARD:3071 {source="MONDO:GARD"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090094"} @@ -237438,7 +237477,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010636 name: Kallmann syndrome with spastic paraplegia synonym: "Kallmann syndrome with spastic paraplegia" EXACT [OMIM:308750] -synonym: "spastic paraplegia-Kallmann syndrome" RELATED [OMIM:308750] +synonym: "spastic paraplegia-Kallmann syndrome" RELATED [] xref: MEDGEN:333437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536873 {source="MONDO:equivalentTo"} xref: OMIM:308750 {source="MONDO:equivalentTo"} @@ -237452,12 +237491,12 @@ subset: gard_rare {source="GARD:15299", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "keratosis follicularis spinulosa decalvans" RELATED [MESH:C536159] -synonym: "keratosis follicularis Spinulosa decalvans cum Ophiasi" RELATED [OMIM:308800] +synonym: "keratosis follicularis Spinulosa decalvans cum Ophiasi" RELATED [] synonym: "keratosis follicularis spinulosa decalvans cum ophiasi" RELATED [MESH:C536159] -synonym: "keratosis follicularis SPINULOSA decalvans, X-linked" RELATED [OMIM:308800] +synonym: "keratosis follicularis SPINULOSA decalvans, X-linked" RELATED [] synonym: "keratosis follicularis spinulosa decalvans, X-linked" EXACT [MONDO:Lexical, OMIM:308800] -synonym: "keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive" EXACT [OMIM:308800, OMIM:genemap2] -synonym: "KFSDX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:308800] +synonym: "keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive" EXACT [] +synonym: "KFSDX" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Kfsdx" RELATED [MESH:C536159] xref: DOID:0080754 {source="MONDO:equivalentTo"} xref: GARD:15299 {source="MONDO:GARD"} @@ -237483,7 +237522,7 @@ subset: rare synonym: "dwarfism, cerebral atrophy and generalised keratosis follicularis" RELATED OMO:0003005 [] synonym: "dwarfism, cerebral atrophy and generalized keratosis follicularis" RELATED [GARD:0003099] synonym: "keratosis follicularis dwarfism and cerebral atrophy" RELATED [GARD:0003099] -synonym: "keratosis follicularis, dwarfism, and cerebral atrophy" RELATED [OMIM:308830] +synonym: "keratosis follicularis, dwarfism, and cerebral atrophy" RELATED [] xref: GARD:3099 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2339", source="Orphanet:2339/attributed", source="Orphanet:2339/ntbt"} xref: MEDGEN:374340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -237509,9 +237548,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2375"} subset: orphanet_rare {source="Orphanet:2375"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "laryngeal abductor paralysis" RELATED [OMIM:308850] +synonym: "laryngeal abductor paralysis" RELATED [] synonym: "Plott syndrome" EXACT [OMIM:308850, Orphanet:2375] -synonym: "vocal cord dysfunction, familial" RELATED [OMIM:308850] +synonym: "vocal cord dysfunction, familial" RELATED [] xref: GARD:16597 {source="MONDO:GARD"} xref: ICD10CM:J38.0 {source="Orphanet:2375", source="Orphanet:2375/attributed", source="Orphanet:2375/ntbt"} xref: MEDGEN:1378465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -237527,11 +237566,11 @@ relationship: excluded_subClassOf MONDO:0020119 {source="Orphanet:2375", source= id: MONDO:0010640 name: Leber optic atrophy, susceptibility to subset: predisposition -synonym: "Leber hereditary optic neuropathy, modifier of" RELATED [OMIM:308905] -synonym: "Leber hereditary optic neuropathy, modifier of, X-linked dominant" EXACT [OMIM:308905, OMIM:genemap2] +synonym: "Leber hereditary optic neuropathy, modifier of" RELATED [] +synonym: "Leber hereditary optic neuropathy, modifier of, X-linked dominant" EXACT [] synonym: "Leber optic atrophy, susceptibility to" EXACT [OMIM:308905] -synonym: "Lhon, modifier of" RELATED [OMIM:308905] -synonym: "Loas" RELATED [OMIM:308905] +synonym: "Lhon, modifier of" RELATED [] +synonym: "Loas" RELATED [] xref: MEDGEN:374333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:308905 {source="MONDO:equivalentTo"} xref: Orphanet:104 {source="OMIM:308905"} @@ -237551,14 +237590,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:1018"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alport syndrome and diffuse leiomyomatosis" RELATED [OMIM:308940] +synonym: "Alport syndrome and diffuse leiomyomatosis" RELATED [] synonym: "Alport syndrome with diffuse leiomyomatosis" RELATED [GARD:0002432] synonym: "ATS-DL" RELATED [GARD:0002432] -synonym: "chromosome Xq22.3 centromeric deletion syndrome" RELATED [OMIM:308940] +synonym: "chromosome Xq22.3 centromeric deletion syndrome" RELATED [] synonym: "diffuse leiomyomatosis in Alport syndrome" RELATED [GARD:0002432] -synonym: "DL-ATS" RELATED [MONDO:Lexical, OMIM:308940] -synonym: "leiomyomatosis, diffuse, with Alport syndrome" RELATED [MONDO:Lexical, OMIM:308940] -synonym: "leiomyomatosis, esophageal and vulval, with nephropathy" RELATED [OMIM:308940] +synonym: "DL-ATS" RELATED [MONDO:Lexical] +synonym: "leiomyomatosis, diffuse, with Alport syndrome" RELATED [MONDO:Lexical] +synonym: "leiomyomatosis, esophageal and vulval, with nephropathy" RELATED [] synonym: "Xq22.3 microdeletion syndrome" EXACT [Orphanet:1018] xref: GARD:2432 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1018", source="Orphanet:1018/attributed", source="Orphanet:1018/ntbt"} @@ -237594,12 +237633,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute leukaemia (disease)" EXACT OMO:0003005 [] -synonym: "acute leukemia" EXACT [MONDO:ambiguous, NCIT:C9300] +synonym: "acute leukemia" EXACT [DOID:12603, MONDO:ambiguous, NCIT:C9300] synonym: "acute leukemia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "leukemia, acute, X-linked" RELATED [OMIM:308960] +synonym: "leukemia, acute, X-linked" RELATED [] synonym: "stem cell leukaemia" RELATED OMO:0003005 [] synonym: "stem cell leukaemia (disease)" RELATED OMO:0003005 [] -synonym: "stem cell leukemia" RELATED [DOID:12603, NCIT:C9298] +synonym: "stem cell leukemia" RELATED [] synonym: "stem cell leukemia (disease)" RELATED [MONDO:patterns/location] xref: DOID:12603 {source="MONDO:equivalentTo"} xref: EFO:1000068 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -237630,7 +237669,7 @@ comment: Editor note: ORDO inclides a btnt xref to this from Dent disease type 1 subset: gard_rare {source="GARD:15301", source="MONDO:GARD"} subset: rare synonym: "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" EXACT [OMIM:308990] -synonym: "proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive" EXACT [OMIM:308990, OMIM:genemap2] +synonym: "proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive" EXACT [] xref: DOID:0111815 {source="MONDO:equivalentTo"} xref: GARD:15301 {source="MONDO:GARD"} xref: MEDGEN:333426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -237655,21 +237694,21 @@ subset: ordo_malformation_syndrome {source="Orphanet:534"} subset: orphanet_rare {source="Orphanet:534"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Lowe disease" EXACT [Orphanet:534] +synonym: "Lowe disease" EXACT [icd11.foundation:1392767390, Orphanet:534] synonym: "Lowe oculo-cerebro-renal syndrome" EXACT [Orphanet:534] -synonym: "Lowe oculocerebrorenal syndrome" EXACT [DOID:1056, MONDO:Lexical, OMIM:309000] -synonym: "Lowe syndrome" EXACT [DOID:1056, NORD:1379, OMIM:309000, Orphanet:534] -synonym: "Lowe syndrome, X-linked recessive" EXACT [OMIM:309000, OMIM:genemap2] -synonym: "OCR" EXACT ABBREVIATION [Orphanet:534] +synonym: "Lowe oculocerebrorenal syndrome" EXACT [DOID:1056, icd11.foundation:1392767390, MONDO:Lexical, OMIM:309000] +synonym: "Lowe syndrome" EXACT [DOID:1056, icd11.foundation:1392767390, NCIT:C84940, NORD:1379, OMIM:309000, Orphanet:534] +synonym: "Lowe syndrome, X-linked recessive" EXACT [] +synonym: "OCR" EXACT ABBREVIATION [] synonym: "OCRL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:309000, Orphanet:534] -synonym: "Ocrl1" RELATED [OMIM:309000] -synonym: "oculo-cerebro-renal dystrophy" EXACT [Orphanet:534] -synonym: "oculo-cerebro-renal syndrome" EXACT [Orphanet:534] -synonym: "oculocerebrorenal dystrophy" EXACT [Orphanet:534] -synonym: "oculocerebrorenal syndrome" EXACT CLINGEN_LABEL [] -synonym: "oculocerebrorenal syndrome of Lowe" EXACT [DOID:1056] -synonym: "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency" EXACT [Orphanet:534] -synonym: "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" RELATED [OMIM:309000] +synonym: "Ocrl1" RELATED [] +synonym: "oculo-cerebro-renal dystrophy" EXACT [] +synonym: "oculo-cerebro-renal syndrome" EXACT [] +synonym: "oculocerebrorenal dystrophy" EXACT [icd11.foundation:1392767390] +synonym: "oculocerebrorenal syndrome" EXACT CLINGEN_LABEL [DOID:1056, icd11.foundation:1392767390, NCIT:C84940] +synonym: "oculocerebrorenal syndrome of Lowe" EXACT [DOID:1056, Orphanet:534] +synonym: "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency" EXACT [icd11.foundation:1392767390, Orphanet:534] +synonym: "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" RELATED [] xref: DOID:1056 {source="MONDO:equivalentTo"} xref: GARD:3295 {source="MONDO:GARD"} xref: ICD10CM:E72.0 {source="Orphanet:534/ntbt", source="Orphanet:534", source="Orphanet:534/inclusion"} @@ -237717,11 +237756,11 @@ def: "Any azoospermia in which the cause of the disease is a mutation in the TEX subset: gard_rare {source="GARD:15302", source="MONDO:GARD"} subset: rare synonym: "azoospermia caused by mutation in TEX11" EXACT [MONDO:design_pattern] -synonym: "Male infertility from defect in meiosis" RELATED [OMIM:309120] +synonym: "Male infertility from defect in meiosis" RELATED [] synonym: "spermatogenic failure, X-linked, 2" EXACT [MONDO:Lexical, OMIM:309120] -synonym: "spermatogenic failure, X-linked, 2, X-linked recessive" EXACT [OMIM:309120, OMIM:genemap2] -synonym: "spermatogenic failure, X-linked, type 2" EXACT [MONDORULE:1, OMIM:309120] -synonym: "SPGFX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309120] +synonym: "spermatogenic failure, X-linked, 2, X-linked recessive" EXACT [] +synonym: "spermatogenic failure, X-linked, type 2" EXACT [MONDORULE:1] +synonym: "SPGFX2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TEX11 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070185 {source="MONDO:equivalentTo"} xref: GARD:15302 {source="MONDO:GARD"} @@ -237740,13 +237779,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010648 name: major affective disorder 2 -synonym: "bipolar affective disorder" RELATED [OMIM:309200] +synonym: "bipolar affective disorder" RELATED [] synonym: "MAFD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:309200] -synonym: "MAJOR affective disorder 2" RELATED [OMIM:309200] +synonym: "MAJOR affective disorder 2" RELATED [] synonym: "major affective disorder 2" EXACT [OMIM:309200] -synonym: "major affective disorder 2, X-linked dominant" EXACT [OMIM:309200, OMIM:genemap2] -synonym: "manic-depressive illness" RELATED [OMIM:309200] -synonym: "manic-depressive psychosis, X-linked" RELATED [OMIM:309200] +synonym: "major affective disorder 2, X-linked dominant" EXACT [] +synonym: "manic-depressive illness" RELATED [] +synonym: "manic-depressive psychosis, X-linked" RELATED [] xref: DOID:0080221 {source="MONDO:equivalentObsolete"} xref: MEDGEN:326975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564108 {source="MONDO:equivalentTo"} @@ -237769,11 +237808,11 @@ subset: orphanet_rare {source="Orphanet:91489"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital anterior megalophthalmia" EXACT [Orphanet:91489] -synonym: "isolated congenital megalocornea" EXACT CLINGEN_LABEL [] -synonym: "megalocornea" RELATED [MONDO:Lexical, OMIM:309300] -synonym: "megalocornea 1, X-linked, X-linked recessive" EXACT [OMIM:309300, OMIM:genemap2] -synonym: "MGC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309300] -synonym: "Mgcn" RELATED [OMIM:309300] +synonym: "isolated congenital megalocornea" EXACT CLINGEN_LABEL [Orphanet:91489] +synonym: "megalocornea" RELATED [MONDO:Lexical] +synonym: "megalocornea 1, X-linked, X-linked recessive" EXACT [] +synonym: "MGC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Mgcn" RELATED [] xref: GARD:12648 {source="MONDO:GARD"} xref: ICD10CM:Q15.8 {source="Orphanet:91489", source="Orphanet:91489/attributed", source="Orphanet:91489/ntbt"} xref: MEDGEN:1385311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -237799,12 +237838,12 @@ subset: orphanet_rare {source="Orphanet:2484"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Melnick Needles Syndrome" EXACT [NORD:1430] -synonym: "Melnick-Needles osteodysplasty" EXACT [OMIM:309350, Orphanet:2484] -synonym: "MELNICK-NEEDLES syndrome" RELATED [OMIM:309350] -synonym: "Melnick-Needles syndrome" EXACT [MONDO:Lexical, OMIM:309350] -synonym: "Melnick-Needles syndrome, X-linked dominant" EXACT [OMIM:309350, OMIM:genemap2] -synonym: "MNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309350] -synonym: "osteodysplasty of Melnick and Needles" RELATED [OMIM:309350] +synonym: "Melnick-Needles osteodysplasty" EXACT [DOID:0111788, OMIM:309350, Orphanet:2484] +synonym: "MELNICK-NEEDLES syndrome" RELATED [] +synonym: "Melnick-Needles syndrome" EXACT [DOID:0111788, MONDO:Lexical, OMIM:309350, Orphanet:2484] +synonym: "Melnick-Needles syndrome, X-linked dominant" EXACT [] +synonym: "MNS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "osteodysplasty of Melnick and Needles" RELATED [] xref: DOID:0111788 {source="MONDO:equivalentTo"} xref: GARD:7011 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:2484", source="Orphanet:2484/attributed", source="Orphanet:2484/ntbt"} @@ -237839,22 +237878,22 @@ subset: ordo_disorder {source="Orphanet:565"} subset: orphanet_rare {source="Orphanet:565"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "copper transport disease" BROAD [DOID:1838, OMIM:309400] -synonym: "kinky hair disease" EXACT [Orphanet:565] -synonym: "kinky hair syndrome" EXACT [Orphanet:565] +synonym: "copper transport disease" BROAD [] +synonym: "kinky hair disease" EXACT [icd11.foundation:986728180, OMIM:309400] +synonym: "kinky hair syndrome" EXACT [NCIT:C75486] synonym: "MD" EXACT ABBREVIATION [Orphanet:565] synonym: "Menkea syndrome" RELATED [GARD:0001521] -synonym: "Menkes disease" EXACT CLINGEN_LABEL [OMIM:309400] -synonym: "menkes disease, X-linked recessive" EXACT [OMIM:309400, OMIM:genemap2] +synonym: "Menkes disease" EXACT CLINGEN_LABEL [DOID:1838, icd11.foundation:986728180, NCIT:C75486, OMIM:309400, Orphanet:565] +synonym: "menkes disease, X-linked recessive" EXACT [] synonym: "Menkes kinky hair syndrome" EXACT [NCIT:C75486] -synonym: "Menkes kinky-hair syndrome" EXACT [DOID:1838] -synonym: "Menkes syndrome" EXACT [Orphanet:565] -synonym: "Mk" EXACT [OMIM:309400, Orphanet:565] -synonym: "MNK" EXACT ABBREVIATION [Orphanet:565] -synonym: "steely hair disease" EXACT [OMIM:309400, Orphanet:565] -synonym: "steely hair syndrome" EXACT [DOID:1838, Orphanet:565] -synonym: "Trichopoliodystrophy" EXACT [Orphanet:565] -synonym: "X-linked copper deficiency" EXACT [Orphanet:565] +synonym: "Menkes kinky-hair syndrome" EXACT [DOID:1838, NCIT:C75486] +synonym: "Menkes syndrome" EXACT [OMIM:309400, Orphanet:565] +synonym: "Mk" EXACT [OMIM:309400] +synonym: "MNK" EXACT ABBREVIATION [OMIM:309400] +synonym: "steely hair disease" EXACT [icd11.foundation:986728180, OMIM:309400] +synonym: "steely hair syndrome" EXACT [DOID:1838] +synonym: "Trichopoliodystrophy" EXACT [icd11.foundation:986728180] +synonym: "X-linked copper deficiency" EXACT [] xref: DOID:1838 {source="MONDO:equivalentTo"} xref: GARD:1521 {source="MONDO:GARD"} xref: ICD10CM:E83.0 {source="Orphanet:565", source="Orphanet:565/ntbt", source="Orphanet:565/inclusion"} @@ -237894,9 +237933,9 @@ subset: ordo_disorder {source="Orphanet:3052"} subset: orphanet_rare {source="Orphanet:3052"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability and psoriasis" RELATED [OMIM:309480] +synonym: "intellectual disability and psoriasis" RELATED [] synonym: "intellectual disability X-linked, Tranebjaerg type seizures and psoriasis" RELATED [GARD:0005238] -synonym: "mental retardation and psoriasis" RELATED DEPRECATED [OMIM:309480] +synonym: "mental retardation and psoriasis" RELATED DEPRECATED [] synonym: "mental retardation X-linked, Tranebjaerg type seizures and psoriasis" RELATED DEPRECATED [GARD:0005238] synonym: "Tranebjaerg Svejgaard syndrome" RELATED [GARD:0005238] synonym: "Tranebjaerg-Svejgaard syndrome" EXACT [Orphanet:3052] @@ -237926,34 +237965,34 @@ subset: orphanet_rare {source="Orphanet:3242"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Golabi-Ito-Hall syndrome" EXACT [DOID:0060179, OMIM:309500] -synonym: "intellectual disability, X-linked 55" RELATED [OMIM:309500] +synonym: "intellectual disability, X-linked 55" RELATED [] synonym: "intellectual disability, X-linked Renpenning type" RELATED [GARD:0009509] -synonym: "intellectual disability, X-linked, Renpenning type" RELATED [OMIM:309500] -synonym: "intellectual disability, X-linked, syndromic 3" RELATED [OMIM:309500] -synonym: "intellectual disability, X-linked, syndromic 8" RELATED [OMIM:309500] -synonym: "intellectual disability, X-linked, with spastic diplegia" RELATED [OMIM:309500] -synonym: "mental retardation, X-linked 55" RELATED DEPRECATED [OMIM:309500] +synonym: "intellectual disability, X-linked, Renpenning type" RELATED [] +synonym: "intellectual disability, X-linked, syndromic 3" RELATED [] +synonym: "intellectual disability, X-linked, syndromic 8" RELATED [] +synonym: "intellectual disability, X-linked, with spastic diplegia" RELATED [] +synonym: "mental retardation, X-linked 55" RELATED DEPRECATED [] synonym: "mental retardation, X-linked Renpenning type" RELATED DEPRECATED [GARD:0009509] -synonym: "mental retardation, X-linked, Renpenning type" RELATED DEPRECATED [OMIM:309500] -synonym: "mental retardation, X-linked, syndromic 3" RELATED DEPRECATED [OMIM:309500] -synonym: "mental retardation, X-linked, syndromic 8" RELATED DEPRECATED [OMIM:309500] -synonym: "mental retardation, X-linked, with spastic diplegia" RELATED DEPRECATED [OMIM:309500] +synonym: "mental retardation, X-linked, Renpenning type" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic 3" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic 8" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, with spastic diplegia" RELATED DEPRECATED [] synonym: "MRXS3" RELATED ABBREVIATION [GARD:0009509] synonym: "MRXS8" RELATED ABBREVIATION [GARD:0009509] -synonym: "Renpenning syndrome" EXACT CLINGEN_LABEL [] -synonym: "Renpenning syndrome 1" RELATED [MONDO:Lexical, OMIM:309500] -synonym: "Renpenning syndrome type 1" EXACT [MONDORULE:1, OMIM:309500] -synonym: "renpenning syndrome, X-linked recessive" EXACT [OMIM:309500, OMIM:genemap2] -synonym: "RENS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309500] +synonym: "Renpenning syndrome" EXACT CLINGEN_LABEL [DOID:0060179, icd11.foundation:1415315699, NCIT:C165533, Orphanet:3242] +synonym: "Renpenning syndrome 1" RELATED [MONDO:Lexical] +synonym: "Renpenning syndrome type 1" EXACT [MONDORULE:1] +synonym: "renpenning syndrome, X-linked recessive" EXACT [] +synonym: "RENS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Sutherland-Haan syndrome" RELATED [GARD:0009509] -synonym: "Sutherland-Haan X-linked intellectual disability syndrome" EXACT [DOID:0060179, OMIM:309500] +synonym: "Sutherland-Haan X-linked intellectual disability syndrome" EXACT [] synonym: "Sutherland-Haan X-linked mental retardation syndrome" EXACT DEPRECATED [DOID:0060179, OMIM:309500] -synonym: "syndromic X-linked intellectual disability 8" EXACT [DOID:0060179] +synonym: "syndromic X-linked intellectual disability 8" EXACT [] synonym: "syndromic X-linked mental retardation 8" EXACT DEPRECATED [DOID:0060179] synonym: "X-linked intellectual disability due to PQBP1 mutations" EXACT [DOID:0060179, Orphanet:3242] -synonym: "X-linked intellectual disability Renpenning type" EXACT [DOID:0060179] +synonym: "X-linked intellectual disability Renpenning type" EXACT [] synonym: "X-linked intellectual disability syndromic 3" RELATED [GARD:0009509] -synonym: "X-linked intellectual disability with spastic diplegia" EXACT [DOID:0060179] +synonym: "X-linked intellectual disability with spastic diplegia" EXACT [] synonym: "X-linked intellectual disability, Renpenning type" EXACT [DOID:0060179, Orphanet:3242] synonym: "X-linked mental retardation Renpenning type" EXACT DEPRECATED [DOID:0060179] synonym: "X-linked mental retardation syndromic 3" RELATED DEPRECATED [GARD:0009509] @@ -237995,20 +238034,20 @@ subset: ordo_malformation_syndrome {source="Orphanet:94083"} subset: orphanet_rare {source="Orphanet:94083"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, X-linked 36" RELATED [OMIM:309510] -synonym: "intellectual disability, X-linked, syndromic 1" RELATED [GARD:0004235, OMIM:309510] -synonym: "intellectual disability, X-linked, with dystonic movements, ataxia, and seizures" RELATED [GARD:0004235, OMIM:309510] +synonym: "intellectual disability, X-linked 36" RELATED [] +synonym: "intellectual disability, X-linked, syndromic 1" RELATED [GARD:0004235] +synonym: "intellectual disability, X-linked, with dystonic movements, ataxia, and seizures" RELATED [GARD:0004235] synonym: "intellectual disability-dystonic movements-ataxia-seizures syndrome" RELATED [GARD:0004235] -synonym: "mental retardation, X-linked 36" RELATED DEPRECATED [OMIM:309510] -synonym: "mental retardation, X-linked, syndromic 1" RELATED DEPRECATED [OMIM:309510] -synonym: "mental retardation, X-linked, with dystonic movements, ataxia, and seizures" RELATED DEPRECATED [OMIM:309510] +synonym: "mental retardation, X-linked 36" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic 1" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, with dystonic movements, ataxia, and seizures" RELATED DEPRECATED [] synonym: "MRXS1" RELATED ABBREVIATION [GARD:0004235] -synonym: "Partington syndrome" EXACT [OMIM:309510] -synonym: "Partington syndrome, X-linked recessive" EXACT [OMIM:309510, OMIM:genemap2] -synonym: "Partington X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:309510] -synonym: "Partington X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:309510] +synonym: "Partington syndrome" EXACT [DOID:14744, OMIM:309510, Orphanet:94083] +synonym: "Partington syndrome, X-linked recessive" EXACT [] +synonym: "Partington X-linked intellectual disability syndrome" RELATED [MONDO:Lexical] +synonym: "Partington X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical] synonym: "Partington-Mulley syndrome" EXACT [Orphanet:94083] -synonym: "PRTS" RELATED DEPRECATED [MONDO:Lexical, OMIM:309510] +synonym: "PRTS" RELATED DEPRECATED [MONDO:Lexical] synonym: "X-linked intellectual disability-dystonia-dysarthria syndrome" EXACT [Orphanet:94083] synonym: "X-linked Russell-Silver syndrome" EXACT [DOID:14744] xref: DOID:14744 {source="MONDO:equivalentTo"} @@ -238037,13 +238076,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:776"} subset: orphanet_rare {source="Orphanet:776"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, X-linked, with Marfanoid habitus" RELATED [OMIM:309520] -synonym: "Lujan syndrome" EXACT [Orphanet:776] -synonym: "LUJAN-Fryns syndrome" RELATED [OMIM:309520] -synonym: "Lujan-Fryns syndrome" EXACT [Orphanet:776] -synonym: "Lujan-Fryns syndrome, X-linked recessive" EXACT [OMIM:309520, OMIM:genemap2] +synonym: "intellectual disability, X-linked, with Marfanoid habitus" RELATED [] +synonym: "Lujan syndrome" EXACT [] +synonym: "LUJAN-Fryns syndrome" RELATED [] +synonym: "Lujan-Fryns syndrome" EXACT [OMIM:309520, Orphanet:776] +synonym: "Lujan-Fryns syndrome, X-linked recessive" EXACT [] synonym: "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies" RELATED [GARD:0003307] -synonym: "mental retardation, X-linked, with Marfanoid habitus" RELATED DEPRECATED [OMIM:309520] +synonym: "mental retardation, X-linked, with Marfanoid habitus" RELATED DEPRECATED [] xref: DOID:0080985 {source="MONDO:equivalentTo"} xref: GARD:3307 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:776/attributed", source="Orphanet:776/ntbt", source="Orphanet:776"} @@ -238069,21 +238108,21 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:397933"} subset: orphanet_rare {source="Orphanet:397933"} subset: rare -synonym: "intellectual developmental disorder, X-linked 1, X-linked dominant" EXACT [OMIM:309530, OMIM:genemap2] +synonym: "intellectual developmental disorder, X-linked 1, X-linked dominant" EXACT [] synonym: "intellectual disability, X-linked 1" EXACT CLINGEN_LABEL [] synonym: "IQSEC2" RELATED ABBREVIATION [GARD:0013221] synonym: "IQSEC2-related disorder" EXACT [https://rarediseases.org/rare-diseases/iqsec2-related-disorder/] synonym: "IQSEC2-related epilepsy" RELATED [GARD:0013221] synonym: "IQSEC2-related intellectual disability" RELATED [GARD:0013221] synonym: "IQSEC2-related syndromic intellectual disability" EXACT [Orphanet:397933] -synonym: "mental retardation, X-linked 1" EXACT DEPRECATED [MONDO:Lexical, OMIM:309530] +synonym: "mental retardation, X-linked 1" EXACT DEPRECATED [MONDO:Lexical, NCIT:C133729, OMIM:309530] synonym: "mental retardation, X-linked 18" EXACT DEPRECATED [OMIM:309530] -synonym: "mental retardation, X-linked 78" EXACT DEPRECATED [MONDO:Lexical, OMIM:300551] -synonym: "mental retardation, X-linked type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:309530] +synonym: "mental retardation, X-linked 78" EXACT DEPRECATED [MONDO:Lexical, OMIM:309530] +synonym: "mental retardation, X-linked type 1" EXACT DEPRECATED [MONDORULE:1] synonym: "MRX" EXACT ABBREVIATION [OMIM:309530] -synonym: "MRX1" EXACT DEPRECATED [MONDO:Lexical, OMIM:309530] -synonym: "MRX78" EXACT DEPRECATED [MONDO:0010357, MONDO:Lexical, OMIM:300551] -synonym: "severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome" RELATED [Orphanet:397933] +synonym: "MRX1" EXACT DEPRECATED [DOID:0112038, MONDO:Lexical, NCIT:C133729] +synonym: "MRX78" EXACT DEPRECATED [DOID:0112038, MONDO:0010357, MONDO:Lexical] +synonym: "severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome" RELATED [] synonym: "X-linked intellectual disability 1" RELATED [GARD:0013221] synonym: "X-linked intellectual disability 1/78" RELATED [GARD:0013221] synonym: "X-linked intellectual disability 78" RELATED [GARD:0013221] @@ -238111,13 +238150,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:369962"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" EXACT [Orphanet:369962] -synonym: "intellectual disability, X-linked 3" RELATED [GARD:0013137, OMIM:309541] -synonym: "mental retardation, X-linked 3" RELATED DEPRECATED [OMIM:309541] +synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" EXACT [DOID:0111814, Orphanet:369962] +synonym: "intellectual disability, X-linked 3" RELATED [GARD:0013137] +synonym: "mental retardation, X-linked 3" RELATED DEPRECATED [] synonym: "methylmalonic acidemia and homocysteinemia type cblX" RELATED [GARD:0013137] -synonym: "methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type" RELATED [OMIM:309541] -synonym: "methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive" EXACT [OMIM:309541, OMIM:genemap2] -synonym: "methylmalonic aciduria with homocystinuria, type cblX" EXACT [Orphanet:369962] +synonym: "methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type" RELATED [] +synonym: "methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive" EXACT [] +synonym: "methylmalonic aciduria with homocystinuria, type cblX" EXACT [DOID:0111814, Orphanet:369962] xref: DOID:0111814 {source="MONDO:equivalentTo"} xref: GARD:13137 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:369962", source="Orphanet:369962/attributed", source="Orphanet:369962/ntbt"} @@ -238142,11 +238181,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:85290"} subset: orphanet_rare {source="Orphanet:85290"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, X-linked, syndromic 12" EXACT [DOID:0060804, MONDO:Lexical, OMIM:309545] +synonym: "intellectual disability, X-linked, syndromic 12" EXACT [MONDO:Lexical] synonym: "mental retardation, X-linked, syndromic 12" EXACT DEPRECATED [DOID:0060804, MONDO:Lexical, OMIM:309545] -synonym: "MRXS12" RELATED DEPRECATED [MONDO:Lexical, OMIM:309545] -synonym: "syndromic X-linked intellectual disability type 12" EXACT [DOID:0060804, MONDORULE:2] -synonym: "X-linked intellectual disability, Wilson type" EXACT [DOID:0060804] +synonym: "MRXS12" RELATED DEPRECATED [MONDO:Lexical] +synonym: "syndromic X-linked intellectual disability type 12" EXACT [MONDORULE:2] +synonym: "X-linked intellectual disability, Wilson type" EXACT [DOID:0060804, Orphanet:85290] xref: DOID:0060804 {source="MONDO:equivalentTo"} xref: GARD:16747 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85290", source="DOID:0060804", source="Orphanet:85290/attributed", source="Orphanet:85290/ntbt"} @@ -238171,14 +238210,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fragile site, folic acid type" RELATED [GARD:0002378] synonym: "fragile XE syndrome" RELATED [GARD:0002378] -synonym: "FRAXE intellectual disability" EXACT CLINGEN_LABEL [] -synonym: "FRAXE intellectual disability syndrome" RELATED [OMIM:309548] -synonym: "FRAXE mental retardation syndrome" RELATED DEPRECATED [OMIM:309548] +synonym: "FRAXE intellectual disability" EXACT CLINGEN_LABEL [Orphanet:100973] +synonym: "FRAXE intellectual disability syndrome" RELATED [] +synonym: "FRAXE mental retardation syndrome" RELATED DEPRECATED [] synonym: "FRAXE syndrome" RELATED [GARD:0002378] -synonym: "intellectual developmental disorder, X-linked 109, X-linked recessive" EXACT [OMIM:309548, OMIM:genemap2] +synonym: "intellectual developmental disorder, X-linked 109, X-linked recessive" EXACT [] synonym: "intellectual disability associated with fragile site FRAXE" EXACT [Orphanet:100973] -synonym: "intellectual disability, X-linked, associated with fragile site FRAXE" RELATED [OMIM:309548] -synonym: "mental retardation, X-linked, associated with fragile site FRAXE" RELATED DEPRECATED [OMIM:309548] +synonym: "intellectual disability, X-linked, associated with fragile site FRAXE" RELATED [] +synonym: "mental retardation, X-linked, associated with fragile site FRAXE" RELATED DEPRECATED [] synonym: "X-linked intellectual disability associated with fragile site FRAXE" RELATED [GARD:0002378] synonym: "X-linked mental retardation associated with fragile site FRAXE" RELATED DEPRECATED [GARD:0002378] xref: DOID:0080984 {source="MONDO:equivalentTo"} @@ -238203,14 +238242,14 @@ subset: gard_rare {source="GARD:22700", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FTSJ1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, X-linked 9, X-linked recessive" EXACT [OMIM:309549, OMIM:genemap2] -synonym: "intellectual disability, X-linked 44" RELATED [OMIM:309549] -synonym: "intellectual disability, X-linked 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:309549] -synonym: "intellectual disability, X-linked type 9" EXACT [MONDORULE:1, OMIM:309549] -synonym: "mental retardation, X-linked 44" RELATED DEPRECATED [OMIM:309549] -synonym: "mental retardation, X-linked 9" RELATED DEPRECATED [MONDO:Lexical, OMIM:309549] -synonym: "mental retardation, X-linked type 9" EXACT DEPRECATED [MONDORULE:1, OMIM:309549] -synonym: "MRX9" RELATED DEPRECATED [MONDO:Lexical, OMIM:309549] +synonym: "intellectual developmental disorder, X-linked 9, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 44" RELATED [] +synonym: "intellectual disability, X-linked 9" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, X-linked type 9" EXACT [MONDORULE:1] +synonym: "mental retardation, X-linked 44" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked 9" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, X-linked type 9" EXACT DEPRECATED [MONDORULE:1] +synonym: "MRX9" RELATED DEPRECATED [MONDO:Lexical] synonym: "non-syndromic X-linked intellectual disability caused by mutation in FTSJ1" EXACT [MONDO:design_pattern] xref: DOID:0112034 {source="MONDO:equivalentTo"} xref: GARD:22700 {source="MONDO:GARD"} @@ -238236,10 +238275,10 @@ subset: orphanet_rare {source="Orphanet:3078"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "gust" RELATED [GARD:0005611] -synonym: "Gustavson syndrome" RELATED [OMIM:309555] -synonym: "intellectual disability with optic atrophy, deafness, and seizures" RELATED [OMIM:309555] +synonym: "Gustavson syndrome" RELATED [] +synonym: "intellectual disability with optic atrophy, deafness, and seizures" RELATED [] synonym: "intellectual disability X-linked severe Gustavson type" RELATED [GARD:0005611] -synonym: "mental retardation with optic atrophy, deafness, and seizures" RELATED DEPRECATED [OMIM:309555] +synonym: "mental retardation with optic atrophy, deafness, and seizures" RELATED DEPRECATED [] synonym: "mental retardation X-linked severe Gustavson type" RELATED DEPRECATED [GARD:0005611] synonym: "X-linked intellectual disability Gustavson type" RELATED [GARD:0005611] synonym: "X-linked mental retardation Gustavson type" RELATED DEPRECATED [GARD:0005611] @@ -238266,8 +238305,8 @@ subset: orphanet_rare {source="Orphanet:2824"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Fitzsimmons-McLachlan-Gilbert syndrome" EXACT [Orphanet:2824] -synonym: "intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis" RELATED [OMIM:309560] -synonym: "mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" RELATED DEPRECATED [OMIM:309560] +synonym: "intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis" RELATED [] +synonym: "mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" RELATED DEPRECATED [] xref: GARD:2344 {source="MONDO:GARD"} xref: MEDGEN:411554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537058 {source="MONDO:equivalentTo"} @@ -238292,33 +238331,33 @@ synonym: "Chudley intellectual disability syndrome" RELATED [GARD:0001357] synonym: "Chudley Lowry Hoar syndrome" EXACT [GARD:0001357] synonym: "Chudley mental retardation syndrome" RELATED DEPRECATED [GARD:0001357] synonym: "Chudley syndrome 1" RELATED [GARD:0001357] -synonym: "Chudley-Lowry syndrome" EXACT [OMIM:309580, Orphanet:93971] +synonym: "Chudley-Lowry syndrome" EXACT [OMIM:309580] synonym: "Chudley-Lowry-Hoar syndrome" EXACT [MONDO:0019775] synonym: "Holmes-Gang syndrome" EXACT [OMIM:309580] synonym: "intellectual disability Smith Fineman Myers type" RELATED [GARD:0003521] -synonym: "intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism" RELATED [OMIM:309580] +synonym: "intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism" RELATED [] synonym: "intellectual disability-hypotonic facies syndrome X-linked, 1" RELATED [GARD:0001357] synonym: "intellectual disability-hypotonic facies syndrome, X-linked, 1" EXACT [MONDO:Lexical, OMIM:309580] -synonym: "intellectual disability-hypotonic facies syndrome, X-linked, type 1" EXACT [MONDORULE:1, OMIM:309580] +synonym: "intellectual disability-hypotonic facies syndrome, X-linked, type 1" EXACT [MONDORULE:1] synonym: "JMS" RELATED ABBREVIATION [GARD:0000081] synonym: "Juberg Marsidi syndrome" NARROW [GARD:0000081] synonym: "Juberg-Marsidi mental retardation syndrome" NARROW DEPRECATED [GARD:0000081] -synonym: "Juberg-Marsidi syndrome" NARROW [OMIM:309580] +synonym: "Juberg-Marsidi syndrome" NARROW [] synonym: "mental retardation Smith Fineman Myers type" RELATED DEPRECATED [GARD:0003521] -synonym: "mental retardation, X-linked, with growth retardation, deafness, and microgenitalism" RELATED DEPRECATED [OMIM:309580] +synonym: "mental retardation, X-linked, with growth retardation, deafness, and microgenitalism" RELATED DEPRECATED [] synonym: "mental retardation-hypotonic facies syndrome X-linked, 1" RELATED DEPRECATED [GARD:0001357] -synonym: "mental retardation-hypotonic facies syndrome, X-linked, 1" RELATED DEPRECATED [MONDO:Lexical, OMIM:309580] -synonym: "mental retardation-hypotonic facies syndrome, X-linked, type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:309580] -synonym: "mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive" EXACT DEPRECATED [OMIM:309580, OMIM:genemap2] +synonym: "mental retardation-hypotonic facies syndrome, X-linked, 1" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation-hypotonic facies syndrome, X-linked, type 1" EXACT DEPRECATED [MONDORULE:1] +synonym: "mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive" EXACT DEPRECATED [] synonym: "mental retradation, X-linked with Growth delay, deafness, microgenitalism" RELATED DEPRECATED [GARD:0000081] synonym: "MRXHF1" EXACT DEPRECATED [MONDO:Lexical, OMIM:309580] synonym: "SFM1" RELATED ABBREVIATION [GARD:0001357] synonym: "SFMS" EXACT ABBREVIATION [OMIM:309580] -synonym: "Smith Fineman Myers syndrome 1" RELATED [GARD:0001357, OMIM:309580] +synonym: "Smith Fineman Myers syndrome 1" RELATED [GARD:0001357] synonym: "Smith-Fineman-Myers syndrome" EXACT [GARD:0003521] synonym: "X-linked hypogonadism gynecomastia intellectual disability" RELATED [GARD:0000081] synonym: "X-linked hypogonadism gynecomastia mental retardation" RELATED DEPRECATED [GARD:0000081] -synonym: "X-linked intellectual disability-hypotonic face syndrome" EXACT [Orphanet:73220] +synonym: "X-linked intellectual disability-hypotonic face syndrome" EXACT [] synonym: "XLMR-hypotonic facies syndrome" EXACT [OMIM:309580] xref: DOID:0080982 {source="MONDO:equivalentTo"} xref: GARD:3521 {source="MONDO:GARD"} @@ -238353,21 +238392,21 @@ subset: ordo_disorder {source="Orphanet:3063"} subset: orphanet_rare {source="Orphanet:3063"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive" EXACT [OMIM:309583, OMIM:genemap2] -synonym: "intellectual disability, X-linked, Snyder-Robinson type" EXACT [DOID:0060802] -synonym: "intellectual disability, X-linked, syndromic, Snyder-Robinson type" RELATED [MONDO:Lexical, OMIM:309583] +synonym: "intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked, Snyder-Robinson type" EXACT [] +synonym: "intellectual disability, X-linked, syndromic, Snyder-Robinson type" RELATED [MONDO:Lexical] synonym: "mental retardation, X-linked, Snyder-Robinson type" EXACT DEPRECATED [DOID:0060802] -synonym: "mental retardation, X-linked, syndromic, Snyder-Robinson type" RELATED DEPRECATED [MONDO:Lexical, OMIM:309583] -synonym: "MRXSSR" RELATED DEPRECATED [MONDO:Lexical, OMIM:309583] -synonym: "Snyder-Robinson intellectual disability syndrome" EXACT [DOID:0060802, OMIM:309583] +synonym: "mental retardation, X-linked, syndromic, Snyder-Robinson type" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRXSSR" RELATED DEPRECATED [MONDO:Lexical] +synonym: "Snyder-Robinson intellectual disability syndrome" EXACT [] synonym: "Snyder-Robinson mental retardation syndrome" EXACT DEPRECATED [DOID:0060802, OMIM:309583] -synonym: "Snyder-Robinson Syndrome" EXACT [NORD:1890] +synonym: "Snyder-Robinson Syndrome" EXACT [DOID:0060802, NORD:1890, Orphanet:3063] synonym: "Snyder-Robinson syndrome" EXACT [DOID:0060802, Orphanet:3063] synonym: "spermine synthase deficiency" EXACT [DOID:0060802] synonym: "SRS" EXACT ABBREVIATION [DOID:0060802] -synonym: "syndromic X-linked intellectual disability Snyder type" EXACT CLINGEN_LABEL [] +synonym: "syndromic X-linked intellectual disability Snyder type" EXACT CLINGEN_LABEL [DOID:0060802] synonym: "X-linked intellectual disability Snyder-Robinson type" RELATED [GARD:0005615] -synonym: "X-linked intellectual disability, Snyder type" RELATED [Orphanet:3063] +synonym: "X-linked intellectual disability, Snyder type" RELATED [] synonym: "X-linked mental retardation Snyder-Robinson type" RELATED DEPRECATED [GARD:0005615] xref: DOID:0060802 {source="MONDO:equivalentTo"} xref: GARD:5615 {source="MONDO:GARD"} @@ -238399,20 +238438,20 @@ subset: ordo_malformation_syndrome {source="Orphanet:3459"} subset: orphanet_rare {source="Orphanet:3459"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, X-linked, syndromic 6" EXACT [DOID:0060814] +synonym: "intellectual disability, X-linked, syndromic 6" EXACT [] synonym: "intellectual disability, X-linked, syndromic 6 (formerly)" RELATED [GARD:0005579] -synonym: "intellectual disability, X-linked, with gynecomastia and obesity" EXACT [DOID:0060814, OMIM:309585] +synonym: "intellectual disability, X-linked, with gynecomastia and obesity" EXACT [] synonym: "intellectual disability, X-linked, with gynecomastia and obesity (formerly)" RELATED [GARD:0005579] -synonym: "mental retardation, X-linked, syndromic 6" EXACT DEPRECATED [DOID:0060814] +synonym: "mental retardation, X-linked, syndromic 6" EXACT DEPRECATED [DOID:0060814, OMIM:309585] synonym: "mental retardation, X-linked, syndromic 6 (formerly)" RELATED DEPRECATED [GARD:0005579] synonym: "mental retardation, X-linked, with gynecomastia and obesity" EXACT DEPRECATED [DOID:0060814, OMIM:309585] synonym: "mental retardation, X-linked, with gynecomastia and obesity (formerly)" RELATED DEPRECATED [GARD:0005579] synonym: "MRXS6" EXACT ABBREVIATION [DOID:0060814] synonym: "Wilson Turner intellectual disability syndrome (formerly)" RELATED [GARD:0005579] synonym: "Wilson Turner mental retardation syndrome (formerly)" RELATED DEPRECATED [GARD:0005579] -synonym: "Wilson-Turner syndrome, X-linked recessive" EXACT [OMIM:309585, OMIM:genemap2] -synonym: "Wilson-TURNER X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:309585] -synonym: "Wilson-TURNER X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:309585] +synonym: "Wilson-Turner syndrome, X-linked recessive" EXACT [] +synonym: "Wilson-TURNER X-linked intellectual disability syndrome" RELATED [MONDO:Lexical] +synonym: "Wilson-TURNER X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical] synonym: "WTS" EXACT ABBREVIATION [DOID:0060814, MONDO:Lexical, OMIM:309585, Orphanet:3459] synonym: "X-linked intellectual disability - gynecomastia - obesity" RELATED [GARD:0005579] synonym: "X-linked intellectual disability-gynecomastia-obesity syndrome" EXACT [DOID:0060814, Orphanet:3459] @@ -238453,17 +238492,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:2958"} subset: orphanet_rare {source="Orphanet:2958"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, X-linked, syndromic 2" RELATED [OMIM:309610] -synonym: "intellectual disability, X-linked, with Dysmorphism and cerebral atrophy" RELATED [OMIM:309610] -synonym: "mental retardation, X-linked, syndromic 2" RELATED DEPRECATED [OMIM:309610] -synonym: "mental retardation, X-linked, with Dysmorphism and cerebral atrophy" RELATED DEPRECATED [OMIM:309610] +synonym: "intellectual disability, X-linked, syndromic 2" RELATED [] +synonym: "intellectual disability, X-linked, with Dysmorphism and cerebral atrophy" RELATED [] +synonym: "mental retardation, X-linked, syndromic 2" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, with Dysmorphism and cerebral atrophy" RELATED DEPRECATED [] synonym: "MRXS2" RELATED ABBREVIATION [GARD:0004482] -synonym: "Prieto syndrome, X-linked recessive" EXACT [OMIM:309610, OMIM:genemap2] -synonym: "Prieto X-linked intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:309610] -synonym: "Prieto X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:309610] +synonym: "Prieto syndrome, X-linked recessive" EXACT [] +synonym: "Prieto X-linked intellectual disability syndrome" RELATED [MONDO:Lexical] +synonym: "Prieto X-linked mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical] synonym: "Prieto-Badia-Mulas syndrome" EXACT [DOID:0060805, Orphanet:2958] -synonym: "PRS" RELATED DEPRECATED [MONDO:Lexical, OMIM:309610] -synonym: "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT [DOID:0060805] +synonym: "PRS" RELATED DEPRECATED [MONDO:Lexical] +synonym: "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT [DOID:0060805, Orphanet:2958] xref: DOID:0060805 {source="MONDO:equivalentTo"} xref: GARD:4482 {source="MONDO:GARD"} xref: MEDGEN:374294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -238492,12 +238531,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Christian syndrome" EXACT [GARD:0003520, OMIM:309620, Orphanet:1436] synonym: "intellectual disability skeletal dysplasia abducens palsy" RELATED [GARD:0003520] -synonym: "intellectual disability, skeletal dysplasia, and abducens palsy" RELATED [MONDO:Lexical, OMIM:309620] +synonym: "intellectual disability, skeletal dysplasia, and abducens palsy" RELATED [MONDO:Lexical] synonym: "mental retardation skeletal dysplasia abducens palsy" RELATED DEPRECATED [GARD:0003520] -synonym: "mental retardation, skeletal dysplasia, and abducens palsy" RELATED DEPRECATED [MONDO:Lexical, OMIM:309620] -synonym: "mental retardation-skeletal dysplasia" EXACT [OMIM:309620, OMIM:genemap2] -synonym: "MRSD" RELATED DEPRECATED [MONDO:Lexical, OMIM:309620] -synonym: "X-linked skeletal dysplasia-intellectual disability syndrome" RELATED [Orphanet:1436] +synonym: "mental retardation, skeletal dysplasia, and abducens palsy" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation-skeletal dysplasia" EXACT [] +synonym: "MRSD" RELATED DEPRECATED [MONDO:Lexical] +synonym: "X-linked skeletal dysplasia-intellectual disability syndrome" RELATED [] xref: GARD:3520 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:1436", source="Orphanet:1436/attributed", source="Orphanet:1436/ntbt"} xref: MEDGEN:326949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -238525,11 +238564,11 @@ subset: orphanet_rare {source="Orphanet:2498"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FGF16 non-syndromic syndactyly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "fusion of metacarpals 4 and 5" EXACT [Orphanet:2498] -synonym: "metacarpal 4-5 fusion" RELATED [MONDO:Lexical, OMIM:309630] -synonym: "metacarpal 4-5 fusion, X-linked recessive" EXACT [OMIM:309630, OMIM:genemap2] +synonym: "fusion of metacarpals 4 and 5" EXACT [DOID:0111813, icd11.foundation:577712860, Orphanet:2498] +synonym: "metacarpal 4-5 fusion" RELATED [MONDO:Lexical] +synonym: "metacarpal 4-5 fusion, X-linked recessive" EXACT [] synonym: "metacarpals 4 and 5 fusion" RELATED [GARD:0003559] -synonym: "MF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309630] +synonym: "MF4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "non-syndromic syndactyly caused by mutation in FGF16" EXACT [MONDO:design_pattern] xref: DOID:0111813 {source="MONDO:equivalentTo"} xref: GARD:3559 {source="MONDO:GARD"} @@ -238551,8 +238590,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3559/metacar [Term] id: MONDO:0010670 name: X-linked intellectual disability-spastic quadriparesis syndrome -synonym: "intellectual disability with spastic paraplegia" RELATED [OMIM:309640] -synonym: "mental retardation with spastic paraplegia" RELATED DEPRECATED [OMIM:309640] +synonym: "intellectual disability with spastic paraplegia" RELATED [] +synonym: "mental retardation with spastic paraplegia" RELATED DEPRECATED [] xref: MEDGEN:374293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564099 {source="MONDO:equivalentTo"} xref: OMIM:309640 {source="MONDO:equivalentTo", source="Orphanet:163982", source="Orphanet:163982/e"} @@ -238570,19 +238609,19 @@ subset: ordo_disorder {source="Orphanet:85275"} subset: ordo_malformation_syndrome {source="Orphanet:85275"} subset: orphanet_rare {source="Orphanet:85275"} subset: rare -synonym: "ANOP1, formerly" EXACT [OMIM:301590] -synonym: "Lenz dysplasia" EXACT [OMIM:309800] +synonym: "ANOP1, formerly" EXACT [OMIM:309800] +synonym: "Lenz dysplasia" EXACT [DOID:0111799, OMIM:309800] synonym: "Lenz microphthalmia syndrome" EXACT [OMIM:309800] synonym: "MAA, formerly" EXACT ABBREVIATION [OMIM:309800] -synonym: "MCOPS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:309800] -synonym: "MCOPS4" EXACT ABBREVIATION [GARD:0005066, MONDO:Lexical, OMIM:301590, Orphanet:85275] -synonym: "MCOPS4, formerly" EXACT ABBREVIATION [OMIM:301590] +synonym: "MCOPS1" EXACT ABBREVIATION [DOID:0111799, MONDO:Lexical, OMIM:309800] +synonym: "MCOPS4" EXACT ABBREVIATION [GARD:0005066, MONDO:Lexical, Orphanet:85275] +synonym: "MCOPS4, formerly" EXACT ABBREVIATION [] synonym: "microphthalmia syndromic 4" EXACT [GARD:0005066] -synonym: "microphthalmia with ankyloblepharon and intellectual disability" EXACT [GARD:0005066, OMIM:301590] -synonym: "microphthalmia with ankyloblepharon and mental retardation" EXACT DEPRECATED [GARD:0005066, OMIM:301590] +synonym: "microphthalmia with ankyloblepharon and intellectual disability" EXACT [GARD:0005066] +synonym: "microphthalmia with ankyloblepharon and mental retardation" EXACT DEPRECATED [GARD:0005066] synonym: "microphthalmia, syndromic 1" EXACT [MONDO:Lexical, OMIM:309800] -synonym: "microphthalmia, syndromic 4, formerly" EXACT [MONDO:Lexical, OMIM:301590] -synonym: "microphthalmia, syndromic type 1" EXACT [MONDORULE:1, OMIM:309800] +synonym: "microphthalmia, syndromic 4, formerly" EXACT [MONDO:Lexical, OMIM:309800] +synonym: "microphthalmia, syndromic type 1" EXACT [MONDORULE:1] synonym: "syndromic microphthalmia type 4" EXACT [GARD:0005066, Orphanet:85275] xref: DOID:0111799 {source="MONDO:equivalentTo"} xref: GARD:15304 {source="MONDO:GARD"} @@ -238618,17 +238657,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:2556"} subset: orphanet_rare {source="Orphanet:2556"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "linear skin defects with multiple congenital anomalies" EXACT [OMIMPS:309801] -synonym: "linear skin defects with multiple congenital anomalies 1" RELATED [GARD:0003659, MONDO:Lexical, OMIM:309801] -synonym: "linear skin defects with multiple congenital anomalies type 1" EXACT [MONDORULE:1, OMIM:309801] -synonym: "LSDMCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:309801] +synonym: "linear skin defects with multiple congenital anomalies" EXACT [DOID:0111875, OMIMPS:309801] +synonym: "linear skin defects with multiple congenital anomalies 1" RELATED [GARD:0003659, MONDO:Lexical] +synonym: "linear skin defects with multiple congenital anomalies type 1" EXACT [MONDORULE:1] +synonym: "LSDMCA1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MCOPS7" EXACT ABBREVIATION [Orphanet:2556] synonym: "microphthalmia dermal aplasia and sclerocornea syndrome" RELATED [GARD:0003659] -synonym: "microphthalmia with linear skin defects syndrome" EXACT [GARD:0003659] +synonym: "microphthalmia with linear skin defects syndrome" EXACT [GARD:0003659, Orphanet:2556] synonym: "microphthalmia-dermal aplasia-sclerocornea syndrome" EXACT [Orphanet:2556] synonym: "Micropthalmia syndromic 7" RELATED [GARD:0003659] synonym: "MIDAS syndrome" EXACT [Orphanet:2556] -synonym: "MLS syndrome" EXACT [Orphanet:2556] +synonym: "MLS syndrome" EXACT [DOID:0111875, Orphanet:2556] synonym: "syndromic microphthalmia type 7" EXACT [Orphanet:2556] xref: DOID:0111875 {source="MONDO:equivalentTo"} xref: GARD:3659 {source="MONDO:GARD"} @@ -238649,7 +238688,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3659/microph id: MONDO:0010673 name: modifier, X-linked, for Neurofunctional defects synonym: "modifier, X-linked, for Neurofunctional defects" EXACT [OMIM:309840] -synonym: "Tourette syndrome, modifier of" RELATED [OMIM:309840] +synonym: "Tourette syndrome, modifier of" RELATED [] xref: MEDGEN:326945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564098 {source="MONDO:equivalentTo"} xref: OMIM:309840 {source="MONDO:equivalentTo"} @@ -238670,11 +238709,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "attenuated MPS (subtype; formerly known as mild MPS II)" EXACT [GARD:0006675] synonym: "deficiency of iduronate-2-sulphatase" EXACT [DOID:12799] -synonym: "Hunter syndrome" EXACT [DOID:12799, Orphanet:580] -synonym: "Hunter's syndrome" EXACT [DOID:12799] +synonym: "Hunter syndrome" EXACT [DOID:12799, icd11.foundation:1056274204, NCIT:C61260, OMIM:309900, Orphanet:580] +synonym: "Hunter's syndrome" EXACT [DOID:12799, ICD10CM:E76.1] synonym: "I2S deficiency" EXACT [GARD:0006675] synonym: "IDS deficiency" EXACT [OMIM:309900] -synonym: "iduronate 2-sulfatase deficiency" EXACT [OMIM:309900, Orphanet:580] +synonym: "iduronate 2-sulfatase deficiency" EXACT [icd11.foundation:1056274204, OMIM:309900, Orphanet:580] synonym: "MPS 2" EXACT [OMIM:309900] synonym: "MPS II" EXACT [GARD:0006675] synonym: "MPS II - Hunter syndrome" EXACT [DOID:12799] @@ -238682,14 +238721,14 @@ synonym: "MPS with skin involvement" EXACT [Orphanet:79388] synonym: "MPS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:309900, Orphanet:580] synonym: "MPSII" EXACT ABBREVIATION [Orphanet:580] synonym: "mucopolysaccharidosis II" EXACT [DOID:12799] -synonym: "mucopolysaccharidosis II, X-linked recessive" EXACT [OMIM:309900, OMIM:genemap2] -synonym: "mucopolysaccharidosis type 2" EXACT CLINGEN_LABEL [] -synonym: "Mucopolysaccharidosis Type II" EXACT [NORD:1255] -synonym: "mucopolysaccharidosis type II" EXACT [DOID:12799, MONDORULE:3, Orphanet:580] -synonym: "mucopolysaccharidosis with skin involvement" EXACT [MONDO:0019302] +synonym: "mucopolysaccharidosis II, X-linked recessive" EXACT [] +synonym: "mucopolysaccharidosis type 2" EXACT CLINGEN_LABEL [icd11.foundation:1056274204, Orphanet:580] +synonym: "Mucopolysaccharidosis Type II" EXACT [NCIT:C61260, NORD:1255, Orphanet:580] +synonym: "mucopolysaccharidosis type II" EXACT [MONDORULE:3, NCIT:C61260, Orphanet:580] +synonym: "mucopolysaccharidosis with skin involvement" EXACT [MONDO:0019302, Orphanet:79388] synonym: "mucopolysaccharidosis, MPS-II" EXACT [DOID:12799] synonym: "mucopolysaccharidosis, type 2" EXACT [OMIM:309900] -synonym: "mucopolysaccharidosis, type II" EXACT [MONDO:Lexical, OMIM:309900] +synonym: "mucopolysaccharidosis, type II" EXACT [ICD10CM:E76.1, MONDO:Lexical] synonym: "severe MPS II" EXACT [GARD:0006675] synonym: "SIDS deficiency" EXACT [OMIM:309900] synonym: "sulfoiduronate sulfatase deficiency" EXACT [OMIM:309900] @@ -238769,7 +238808,7 @@ name: muscular dystrophy, progressive Pectorodorsal subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "muscular dystrophy, progressive Pectorodorsal" EXACT [OMIM:310095] -synonym: "muscular dystrophy, progressive, involving shoulder girdle and back" RELATED [OMIM:310095] +synonym: "muscular dystrophy, progressive, involving shoulder girdle and back" RELATED [] xref: MEDGEN:326550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564095 {source="MONDO:equivalentTo"} xref: OMIM:310095 {source="MONDO:equivalentTo"} @@ -238787,11 +238826,11 @@ subset: orphanet_rare {source="Orphanet:98896"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:310200, Orphanet:98896] -synonym: "Duchenne muscular dystrophy" EXACT CLINGEN_LABEL [OMIM:310200] -synonym: "Duchenne muscular dystrophy, X-linked recessive" EXACT [OMIM:310200, OMIM:genemap2] +synonym: "Duchenne muscular dystrophy" EXACT CLINGEN_LABEL [DOID:11723, icd11.foundation:1479561744, NCIT:C75482, OMIM:310200, Orphanet:98896] +synonym: "Duchenne muscular dystrophy, X-linked recessive" EXACT [] synonym: "muscular dystrophy, Duchenne" EXACT [DOID:11723] -synonym: "muscular dystrophy, Duchenne type" RELATED [MONDO:Lexical, OMIM:310200] -synonym: "muscular dystrophy, pseudohypertrophic progressive, Duchenne type" RELATED [OMIM:310200] +synonym: "muscular dystrophy, Duchenne type" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy, pseudohypertrophic progressive, Duchenne type" RELATED [] synonym: "severe dystrophinopathy, Duchenne type" EXACT [Orphanet:98896] xref: DOID:11723 {source="MONDO:equivalentTo"} xref: GARD:6291 {source="MONDO:GARD"} @@ -238829,11 +238868,11 @@ subset: ordo_etiological_subtype {source="Orphanet:98863"} subset: ordo_subtype_of_a_disorder {source="Orphanet:98863"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Emerinopathy" EXACT [Orphanet:98863] +synonym: "Emerinopathy" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "muscular dystrophy, tardive Emery-Dreifuss type, with contractures" RELATED [GARD:0002102] -synonym: "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures" RELATED [DOID:0070246] -synonym: "X-linked Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_LABEL [] +synonym: "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures" RELATED [] +synonym: "X-linked Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_LABEL [Orphanet:98863] xref: GARD:2102 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:98863/attributed", source="Orphanet:98863/ntbt", source="Orphanet:98863"} xref: MEDGEN:148284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -238856,7 +238895,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010681 name: myelolymphatic insufficiency synonym: "Myelolymphatic insufficiency" EXACT [OMIM:310350] -synonym: "Pelger-like anomaly with leukopenia and susceptibility to infections" RELATED [OMIM:310350] +synonym: "Pelger-like anomaly with leukopenia and susceptibility to infections" RELATED [] xref: MEDGEN:333371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:310350 {source="MONDO:equivalentTo"} xref: UMLS:C1839650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:333371"} @@ -238866,7 +238905,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010682 name: obsolete myoclonic epilepsy, progressive, X-linked subset: nord_rare {source="MONDO:NORD"} -synonym: "myoclonic epilepsy, progressive" EXACT [OMIM:310370] +synonym: "myoclonic epilepsy, progressive" EXACT [] xref: OMIM:310370 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:308 {source="OMIM:310370"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDiseas"} @@ -238886,16 +238925,16 @@ subset: orphanet_rare {source="Orphanet:596"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "centronuclear myopathy, X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "CNMX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310400] +synonym: "CNMX" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MTM" EXACT ABBREVIATION [NCIT:C118781] -synonym: "myopathy, centronuclear, X-linked" RELATED [MONDO:Lexical, OMIM:310400] -synonym: "myotubular myopathy 1" RELATED [OMIM:310400] -synonym: "myotubular myopathy, X-linked" RELATED [OMIM:310400] -synonym: "myotubular myopathy, X-linked, X-linked recessive" EXACT [OMIM:310400, OMIM:genemap2] -synonym: "X-linked centronuclear myopathy" EXACT CLINGEN_LABEL [Orphanet:596] -synonym: "X-linked myotubular myopathy" EXACT [https://orcid.org/0000-0002-7437-8060, Orphanet:596] -synonym: "XLCNM" EXACT ABBREVIATION [Orphanet:596] -synonym: "XLMTM" EXACT ABBREVIATION [Orphanet:596] +synonym: "myopathy, centronuclear, X-linked" RELATED [MONDO:Lexical] +synonym: "myotubular myopathy 1" RELATED [] +synonym: "myotubular myopathy, X-linked" RELATED [] +synonym: "myotubular myopathy, X-linked, X-linked recessive" EXACT [] +synonym: "X-linked centronuclear myopathy" EXACT CLINGEN_LABEL [NCIT:C118781, Orphanet:596] +synonym: "X-linked myotubular myopathy" EXACT [DOID:0111225, https://orcid.org/0000-0002-7437-8060, NCIT:C118781, Orphanet:596] +synonym: "XLCNM" EXACT ABBREVIATION [DOID:0111225, NCIT:C118781, Orphanet:596] +synonym: "XLMTM" EXACT ABBREVIATION [DOID:0111225, Orphanet:596] xref: DOID:0111225 {source="MONDO:equivalentTo"} xref: GARD:11925 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:596/ntbt", source="Orphanet:596/inclusion", source="Orphanet:596"} @@ -238927,10 +238966,10 @@ subset: ordo_disorder {source="Orphanet:25980"} subset: orphanet_rare {source="Orphanet:25980"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MEAX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310440] -synonym: "myopathy, X-linked, with excessive autophagy" RELATED [GARD:0003892, MONDO:Lexical, OMIM:310440] -synonym: "myopathy, X-linked, with excessive autophagy, X-linked recessive" EXACT [OMIM:310440, OMIM:genemap2] -synonym: "vacuolar myopathy" EXACT [Orphanet:25980] +synonym: "MEAX" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myopathy, X-linked, with excessive autophagy" RELATED [GARD:0003892, MONDO:Lexical] +synonym: "myopathy, X-linked, with excessive autophagy, X-linked recessive" EXACT [] +synonym: "vacuolar myopathy" EXACT [] synonym: "XMEA" EXACT ABBREVIATION [DOID:0050760, OMIM:310440, Orphanet:25980] xref: DOID:0050760 {source="MONDO:equivalentTo"} xref: GARD:3892 {source="MONDO:GARD"} @@ -238953,7 +238992,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3892/x-linke id: MONDO:0010685 name: myopia 1, X-linked synonym: "myopia 1, X-linked" EXACT [MONDO:Lexical, OMIM:310460] -synonym: "myopia-1, X-linked recessive" EXACT [OMIM:310460, OMIM:genemap2] +synonym: "myopia-1, X-linked recessive" EXACT [] synonym: "MYP1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:310460] xref: MEDGEN:326540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564091 {source="MONDO:equivalentTo"} @@ -238978,7 +239017,7 @@ synonym: "intellectual disability, malformations, chromosome breakage, and devel synonym: "intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia" RELATED [GARD:0003902] synonym: "mental retardation, malformations, chromosome breakage, and development of T-cell leukaemia" RELATED OMO:0003005 [] synonym: "mental retardation, malformations, chromosome breakage, and development of T-cell leukemia" RELATED DEPRECATED [GARD:0003902] -synonym: "N syndrome" EXACT [MONDO:Lexical, OMIM:310465] +synonym: "N syndrome" EXACT [DOID:0050769, icd11.foundation:2040480507, MONDO:Lexical, OMIM:310465, Orphanet:2608] synonym: "NSX" EXACT ABBREVIATION [DOID:0050769, MONDO:Lexical, OMIM:310465] xref: DOID:0050769 {source="MONDO:equivalentTo"} xref: GARD:3902 {source="MONDO:GARD"} @@ -239001,12 +239040,12 @@ name: nephrolithiasis, X-linked recessive, with renal failure comment: Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact nephrolithiasis is sometimes a feature of dent disease. We capture this separately in annotations subset: gard_rare {source="GARD:15305", source="MONDO:GARD"} subset: rare -synonym: "nephrolithiasis 1" RELATED [OMIM:310468] -synonym: "nephrolithiasis, type i, X-linked recessive" EXACT [OMIM:310468, OMIM:genemap2] -synonym: "nephrolithiasis, X-linked recessive, type 1" RELATED [OMIM:310468] +synonym: "nephrolithiasis 1" RELATED [] +synonym: "nephrolithiasis, type i, X-linked recessive" EXACT [] +synonym: "nephrolithiasis, X-linked recessive, type 1" RELATED [] synonym: "nephrolithiasis, X-linked recessive, with renal failure" EXACT [MONDO:Lexical, OMIM:310468] -synonym: "urolithiasis, X-linked recessive, type 1" RELATED [OMIM:310468] -synonym: "XRN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310468] +synonym: "urolithiasis, X-linked recessive, type 1" RELATED [] +synonym: "XRN" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111798 {source="MONDO:equivalentTo"} xref: GARD:15305 {source="MONDO:GARD"} xref: MEDGEN:96047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -239027,7 +239066,7 @@ name: hereditary sensory neuropathy X-linked def: "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life." [DOID:0070159] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "neuropathy, hereditary sensory, X-linked" RELATED [OMIM:310470] +synonym: "neuropathy, hereditary sensory, X-linked" RELATED [] xref: DOID:0070159 {source="MONDO:equivalentTo"} xref: MEDGEN:333359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564090 {source="MONDO:equivalentTo"} @@ -239045,25 +239084,25 @@ subset: ordo_disorder {source="Orphanet:101078"} subset: orphanet_rare {source="Orphanet:101078"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "axonal motor sensory neuropathy with deafness and intellectual disability" EXACT [DOID:0110212] +synonym: "axonal motor sensory neuropathy with deafness and intellectual disability" EXACT [] synonym: "axonal motor sensory neuropathy with deafness and mental retardation" EXACT DEPRECATED [DOID:0110212] -synonym: "Charcot-Marie-Tooth disease with deafness and intellectual disability" EXACT [DOID:0110212, OMIM:310490] +synonym: "Charcot-Marie-Tooth disease with deafness and intellectual disability" EXACT [] synonym: "Charcot-Marie-Tooth disease with deafness and mental retardation" EXACT DEPRECATED [DOID:0110212, OMIM:310490] -synonym: "Charcot-Marie-Tooth disease X-linked recessive type 4" EXACT [DOID:0110212, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 4" EXACT [OMIM:310490] +synonym: "Charcot-Marie-Tooth disease X-linked recessive type 4" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 4" EXACT [] synonym: "CMT4X" EXACT ABBREVIATION [DOID:0110212, Orphanet:101078] synonym: "CMTX 4" EXACT [GARD:0001240] -synonym: "CMTX4" EXACT ABBREVIATION [DOID:0110212, Orphanet:101078] +synonym: "CMTX4" EXACT ABBREVIATION [DOID:0110212, OMIM:310490, Orphanet:101078] synonym: "cowchock syndrome" EXACT [DOID:0110212, MONDO:Lexical, OMIM:310490, Orphanet:101078] -synonym: "Cowchock syndrome, X-linked recessive" EXACT [OMIM:310490, OMIM:genemap2] -synonym: "COWCK" EXACT ABBREVIATION [DOID:0110212, MONDO:Lexical, OMIM:310490] +synonym: "Cowchock syndrome, X-linked recessive" EXACT [] +synonym: "COWCK" EXACT ABBREVIATION [MONDO:Lexical] synonym: "NADMR" EXACT ABBREVIATION [DOID:0110212, OMIM:310490] synonym: "NAMSD" EXACT ABBREVIATION [DOID:0110212] synonym: "neuropathy, axonal motor-sensory with deafness and intellectual disability" RELATED [GARD:0001240] synonym: "neuropathy, axonal motor-sensory with deafness and mental retardation" RELATED DEPRECATED [GARD:0001240] -synonym: "neuropathy, axonal motor-sensory, with deafness and intellectual disability" RELATED [OMIM:310490] -synonym: "neuropathy, axonal motor-sensory, with deafness and mental retardation" RELATED DEPRECATED [OMIM:310490] -synonym: "X-linked Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110212] +synonym: "neuropathy, axonal motor-sensory, with deafness and intellectual disability" RELATED [] +synonym: "neuropathy, axonal motor-sensory, with deafness and mental retardation" RELATED DEPRECATED [] +synonym: "X-linked Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110212, Orphanet:101078] xref: DOID:0110212 {source="MONDO:equivalentTo"} xref: GARD:1240 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:101078", source="Orphanet:101078/attributed", source="Orphanet:101078/ntbt", source="DOID:0110212"} @@ -239085,20 +239124,20 @@ subset: gard_rare {source="GARD:15306", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "complete CSNB X-linked" EXACT [DOID:0110870] -synonym: "congenital stationary night blindness 1A" EXACT [] +synonym: "congenital stationary night blindness 1A" EXACT [DOID:0110870] synonym: "congenital stationary night blindness 1A X-linked" EXACT [DOID:0110870] synonym: "congenital stationary night blindness caused by mutation in NYX" EXACT [MONDO:design_pattern] -synonym: "congenital stationary night blindness type 1A" EXACT [DOID:0110870, MONDORULE:4] +synonym: "congenital stationary night blindness type 1A" EXACT [MONDORULE:4] synonym: "congenital stationary night blindness with myopia" EXACT [DOID:0110870] -synonym: "CSNB, complete, X-linked" RELATED [OMIM:310500] +synonym: "CSNB, complete, X-linked" RELATED [] synonym: "CSNB1A" EXACT ABBREVIATION [DOID:0110870, MONDO:Lexical, OMIM:310500] synonym: "hemeralopia-myopia" EXACT [DOID:0110870, OMIM:310500] synonym: "myopia-night blindness" EXACT [DOID:0110870, OMIM:310500] synonym: "NBMI" EXACT ABBREVIATION [DOID:0110870] -synonym: "night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive" EXACT [OMIM:310500, OMIM:genemap2] +synonym: "night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive" EXACT [] synonym: "night blindness, congenital stationary, type 1A" EXACT [MONDO:Lexical, OMIM:310500] -synonym: "night blindness, congenital stationary, with myopia" RELATED [OMIM:310500] -synonym: "nyctalopia" RELATED [OMIM:310500] +synonym: "night blindness, congenital stationary, with myopia" RELATED [] +synonym: "nyctalopia" RELATED [] synonym: "NYX congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NYX-related congenital stationary night blindness" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] xref: DOID:0110870 {source="MONDO:equivalentTo"} @@ -239135,17 +239174,17 @@ subset: orphanet_rare {source="Orphanet:649"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Anderson-Warburg syndrome" RELATED [GARD:0007224] -synonym: "atrophia bulborum hereditaria" EXACT [DOID:0060844, OMIM:310600, Orphanet:649] +synonym: "atrophia bulborum hereditaria" EXACT [DOID:0060844, icd11.foundation:676214590, OMIM:310600, Orphanet:649] synonym: "Episkopi blindness" EXACT [DOID:0060844, OMIM:310600, Orphanet:649] synonym: "fetal iritis syndrome" RELATED [GARD:0007224] synonym: "foetal iritis syndrome" RELATED OMO:0003005 [] -synonym: "ND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310600] -synonym: "nd" RELATED [OMIM:310600] +synonym: "ND" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nd" RELATED [] synonym: "NDP" RELATED ABBREVIATION [GARD:0007224] -synonym: "Norrie disease" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:310600] -synonym: "Norrie disease, X-linked recessive" EXACT [OMIM:310600, OMIM:genemap2] +synonym: "Norrie disease" EXACT CLINGEN_LABEL [DOID:0060844, icd11.foundation:676214590, MONDO:Lexical, OMIM:310600, Orphanet:649] +synonym: "Norrie disease, X-linked recessive" EXACT [] synonym: "Norrie syndrome" RELATED [GARD:0007224] -synonym: "Norrie-Warburg disease" EXACT [DOID:0060844, Orphanet:649] +synonym: "Norrie-Warburg disease" EXACT [DOID:0060844, icd11.foundation:676214590, Orphanet:649] synonym: "Norrie-Warburg syndrome" RELATED [GARD:0007224] synonym: "pseudoglioma" RELATED [GARD:0007224] xref: DOID:0060844 {source="MONDO:equivalentTo"} @@ -239173,7 +239212,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/7224/norrie- [Term] id: MONDO:0010692 name: nuclear ribonucleic acid -synonym: "nRNA" RELATED [MONDO:Lexical, OMIM:310650] +synonym: "nRNA" RELATED [MONDO:Lexical] synonym: "nuclear ribonucleic acid" EXACT [MONDO:Lexical, OMIM:310650] xref: MEDGEN:374259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:310650 {source="MONDO:equivalentTo"} @@ -239186,16 +239225,16 @@ name: nystagmus 1, congenital, X-linked def: "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital nystagmus caused by mutation in FRMD7" EXACT [MONDO:design_pattern] synonym: "FRMD7 congenital nystagmus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "NYS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:310700] +synonym: "NYS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Nystagmus 1, congenital, X- linked" RELATED [GARD:0002969] -synonym: "NYSTAGMUS 1, congenital, X-linked" RELATED [OMIM:310700] +synonym: "NYSTAGMUS 1, congenital, X-linked" RELATED [] synonym: "nystagmus 1, congenital, X-linked" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:310700] -synonym: "Nystagmus 1, infantile, X-linked" RELATED [OMIM:310700] -synonym: "Nystagmus, congenital motor, 1" RELATED [OMIM:310700] -synonym: "Nystagmus, infantile idiopathic" RELATED [OMIM:310700] -synonym: "Nystagmus, infantile idiopathic, formerly" RELATED [OMIM:310700] -synonym: "Nystagmus, infantile periodic alternating, X-linked" RELATED [OMIM:310700] -synonym: "Xlpan" RELATED [OMIM:310700] +synonym: "Nystagmus 1, infantile, X-linked" RELATED [] +synonym: "Nystagmus, congenital motor, 1" RELATED [] +synonym: "Nystagmus, infantile idiopathic" RELATED [] +synonym: "Nystagmus, infantile idiopathic, formerly" RELATED [] +synonym: "Nystagmus, infantile periodic alternating, X-linked" RELATED [] +synonym: "Xlpan" RELATED [] xref: DOID:0111790 {source="MONDO:equivalentTo"} xref: MEDGEN:333352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537853 {source="MONDO:equivalentTo"} @@ -239248,7 +239287,7 @@ is_a: MONDO:0019015 {source="DC-OMIM:310980"} ! omphalocele [Term] id: MONDO:0010697 name: ophthalmoplegia, external, and myopia -synonym: "myopia-ophthalmoplegia syndrome" RELATED [OMIM:311000] +synonym: "myopia-ophthalmoplegia syndrome" RELATED [] synonym: "OPEM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311000] synonym: "ophthalmoplegia, external, and myopia" EXACT [MONDO:Lexical, OMIM:311000] xref: MEDGEN:326916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -239268,12 +239307,12 @@ subset: orphanet_rare {source="Orphanet:98890"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "non-Leber type optic atrophy with early-onset" EXACT [Orphanet:98890] -synonym: "OPA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311050, Orphanet:98890] -synonym: "optic atrophy 2" EXACT [MONDO:Lexical, OMIM:311050] -synonym: "optic atrophy 2, X-linked" EXACT [OMIM:311050, OMIM:genemap2] +synonym: "OPA2" EXACT ABBREVIATION [DOID:0111443, MONDO:Lexical, OMIM:311050, Orphanet:98890] +synonym: "optic atrophy 2" EXACT [DOID:0111443, MONDO:Lexical, OMIM:311050] +synonym: "optic atrophy 2, X-linked" EXACT [] synonym: "optic atrophy type 2" EXACT [Orphanet:98890] -synonym: "optic atrophy, non-Leber type, with early onset" RELATED [OMIM:311050] -synonym: "optic atrophy, X-linked" RELATED [OMIM:311050] +synonym: "optic atrophy, non-Leber type, with early onset" RELATED [] +synonym: "optic atrophy, X-linked" RELATED [] xref: DOID:0111443 {source="MONDO:equivalentTo"} xref: GARD:10199 {source="MONDO:GARD"} xref: ICD10CM:H47.2 {source="Orphanet:98890/attributed", source="Orphanet:98890/ntbt", source="Orphanet:98890"} @@ -239297,10 +239336,10 @@ subset: ordo_disorder {source="Orphanet:99014"} subset: orphanet_rare {source="Orphanet:99014"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Charcot-Marie-Tooth disease X-linked recessive type 5" EXACT [DOID:0110210, MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease X-linked recessive type 5" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 5" EXACT [MONDO:Lexical, OMIM:311070] -synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive" EXACT [OMIM:311070, OMIM:genemap2] -synonym: "Charcot-Marie-Tooth disease, X-linked recessive, type 5" EXACT [MONDORULE:1, OMIM:311070] +synonym: "Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive" EXACT [] +synonym: "Charcot-Marie-Tooth disease, X-linked recessive, type 5" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth neuropathy X type 5" EXACT [GARD:0000114] synonym: "Charcot-Marie-Tooth neuropathy X-linked recessive 5" EXACT [DOID:0110210] synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive, 5" EXACT [OMIM:311070] @@ -239311,7 +239350,7 @@ synonym: "optic atrophy, polyneuropathy, and deafness" EXACT [DOID:0110210, GARD synonym: "optic atrophy, sensorineural hearing loss and polyneuropathy" EXACT [GARD:0000114] synonym: "Rosenberg Chutorian Syndrome" EXACT [NORD:1677] synonym: "Rosenberg-Chutorian syndrome" EXACT [DOID:0110210, GARD:0000114, OMIM:311070] -synonym: "X-linked Charcot-Marie-Tooth disease type 5" EXACT [DOID:0110210] +synonym: "X-linked Charcot-Marie-Tooth disease type 5" EXACT [DOID:0110210, Orphanet:99014] xref: DOID:0110210 {source="MONDO:equivalentTo"} xref: GARD:114 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:99014/attributed", source="Orphanet:99014/ntbt", source="DOID:0110210", source="Orphanet:99014"} @@ -239364,13 +239403,13 @@ synonym: "oral facial digital syndrome type 1" EXACT [GARD:0004121] synonym: "oral-facial-digital syndrome 1" EXACT [GARD:0004121] synonym: "oral-facial-digital syndrome type 1" EXACT [Orphanet:2750] synonym: "oral-facial-digital syndrome, type 1" EXACT [OMIM:311200] -synonym: "orofaciodigital syndrome 1" EXACT [DOID:0060316] -synonym: "orofaciodigital syndrome I" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:311200] -synonym: "orofaciodigital syndrome i, X-linked dominant" EXACT [OMIM:311200, OMIM:genemap2] -synonym: "orofaciodigital syndrome type 1" EXACT [MONDORULE:1, OMIM:311200] +synonym: "orofaciodigital syndrome 1" EXACT [DOID:0060316, OMIM:311200] +synonym: "orofaciodigital syndrome I" EXACT CLINGEN_LABEL [DOID:0060316, MONDO:Lexical] +synonym: "orofaciodigital syndrome i, X-linked dominant" EXACT [] +synonym: "orofaciodigital syndrome type 1" EXACT [MONDORULE:1, NCIT:C75481, Orphanet:2750] synonym: "orofaciodigital syndrome type I" EXACT [DOID:0060316, MONDORULE:1] synonym: "Papillon-Leage and Psaume syndrome" EXACT [OMIM:311200] -synonym: "Papillon-Leage-Psaume syndrome" EXACT [DOID:0060316, Orphanet:2750] +synonym: "Papillon-Leage-Psaume syndrome" EXACT [DOID:0060316] synonym: "Papillon-league-Psaume syndrome (formerly)" EXACT [GARD:0004121] synonym: "Papillon-Léage-Psaume syndrome" EXACT [Orphanet:2750] xref: DOID:0060316 {source="MONDO:equivalentTo"} @@ -239413,13 +239452,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "deficiency of citrulline phosphorylase" EXACT [DOID:9271] synonym: "OCT deficiency" EXACT [Orphanet:664] -synonym: "ornithine carbamoyltransferase deficiency" EXACT CLINGEN_LABEL [OMIM:311250, Orphanet:664] +synonym: "ornithine carbamoyltransferase deficiency" EXACT CLINGEN_LABEL [DOID:9271, icd11.foundation:1822444026, NCIT:C84957, OMIM:311250, Orphanet:664] synonym: "ornithine carbamoyltransferase deficiency disease" EXACT [NCIT:C84957] -synonym: "ornithine transcarbamylase deficiency" EXACT [DOID:9271] -synonym: "ornithine transcarbamylase deficiency, hyperammonemia due to" RELATED [OMIM:311250] +synonym: "ornithine transcarbamylase deficiency" EXACT [DOID:9271, icd11.foundation:1822444026, NCIT:C84957, Orphanet:664] +synonym: "ornithine transcarbamylase deficiency, hyperammonemia due to" RELATED [] synonym: "OTC deficiency" EXACT [OMIM:311250, Orphanet:664] synonym: "OTCD" EXACT ABBREVIATION [GARD:0008391] -synonym: "valproate sensitivity" RELATED [OMIM:311250] +synonym: "valproate sensitivity" RELATED [] xref: DOID:9271 {source="MONDO:equivalentTo", source="EFO:0007409"} xref: EFO:0007409 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:8391 {source="MONDO:GARD"} @@ -239452,18 +239491,18 @@ subset: ordo_disorder {source="Orphanet:90650"} subset: orphanet_rare {source="Orphanet:90650"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "frontootopalatodigital osteodysplasia" RELATED [OMIM:311300] +synonym: "frontootopalatodigital osteodysplasia" RELATED [] synonym: "OPD 1 syndrome" EXACT [OMIM:311300] -synonym: "OPD I syndrome" EXACT [Orphanet:90650] +synonym: "OPD I syndrome" EXACT [DOID:0111783, Orphanet:90650] synonym: "OPD syndrome" RELATED [GARD:0005121] -synonym: "OPD syndrome 1" EXACT [OMIM:311300, Orphanet:90650] -synonym: "OPD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:311300] -synonym: "oto-palato-digital syndrome type 1" EXACT [GARD:0005121] -synonym: "otopalatodigital spectrum disorder" RELATED [OMIM:311300] +synonym: "OPD syndrome 1" EXACT [DOID:0111783, OMIM:311300, Orphanet:90650] +synonym: "OPD1" EXACT ABBREVIATION [DOID:0111783, MONDO:Lexical, OMIM:311300] +synonym: "oto-palato-digital syndrome type 1" EXACT [DOID:0111783, GARD:0005121] +synonym: "otopalatodigital spectrum disorder" RELATED [] synonym: "otopalatodigital syndrome, type 1" EXACT [OMIM:311300] -synonym: "otopalatodigital syndrome, type I" EXACT [MONDO:Lexical, OMIM:311300] -synonym: "otopalatodigital syndrome, type I, X-linked dominant" EXACT [OMIM:311300, OMIM:genemap2] -synonym: "Taybi syndrome" EXACT [Orphanet:90650] +synonym: "otopalatodigital syndrome, type I" EXACT [MONDO:Lexical] +synonym: "otopalatodigital syndrome, type I, X-linked dominant" EXACT [] +synonym: "Taybi syndrome" EXACT [DOID:0111783, Orphanet:90650] xref: DOID:0111783 {source="MONDO:equivalentTo"} xref: GARD:5121 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:90650", source="Orphanet:90650/attributed", source="Orphanet:90650/ntbt"} @@ -239487,8 +239526,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010705 name: obsolete ouabain resistance comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "ouabain resistance" EXACT [MONDO:Lexical, OMIM:311350] -synonym: "OUBR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:311350] +synonym: "ouabain resistance" EXACT [MONDO:Lexical] +synonym: "OUBR" RELATED ABBREVIATION [MONDO:Lexical] xref: OMIM:311350 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -239508,14 +239547,14 @@ synonym: "FMR1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patte synonym: "FMR1-related premature ovarian failure" RELATED [GARD:0004480] synonym: "FMR1-related primary ovarian insufficiency" RELATED [GARD:0004480] synonym: "fragile X-associated primary ovarian insufficiency" RELATED [GARD:0004480] -synonym: "fragile x-associated primary ovarian insufficiency" EXACT [Orphanet:642691] -synonym: "hypergonadotropic ovarian failure, X-linked" RELATED [OMIM:311360] +synonym: "fragile x-associated primary ovarian insufficiency" EXACT [DOID:0080857, Orphanet:642691] +synonym: "hypergonadotropic ovarian failure, X-linked" RELATED [] synonym: "idiopathic familial premature ovarian failure" RELATED [GARD:0004480] -synonym: "ovarian failure, premature" BROAD [OMIM:311360] -synonym: "Pof1" RELATED [MONDO:Lexical, OMIM:311360] -synonym: "premature ovarian failure 1" EXACT [MONDO:Lexical, OMIM:311360] -synonym: "premature ovarian failure type 1" EXACT [MONDORULE:1, OMIM:311360] -synonym: "premature ovarian failure, X-linked" RELATED [OMIM:311360] +synonym: "ovarian failure, premature" BROAD [] +synonym: "Pof1" RELATED [MONDO:Lexical] +synonym: "premature ovarian failure 1" EXACT [DOID:0080857, MONDO:Lexical, OMIM:311360] +synonym: "premature ovarian failure type 1" EXACT [MONDORULE:1] +synonym: "premature ovarian failure, X-linked" RELATED [] synonym: "primary ovarian failure caused by mutation in FMR1" EXACT [MONDO:design_pattern] xref: DOID:0080857 {source="MONDO:equivalentTo"} xref: ICD9:256.39 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -239535,9 +239574,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010707 name: Paine syndrome -synonym: "microcephaly with spastic diplegia" RELATED [OMIM:311400] +synonym: "microcephaly with spastic diplegia" RELATED [] synonym: "Paine syndrome" EXACT [OMIM:311400] -synonym: "Seemanova syndrome 1" RELATED [OMIM:311400] +synonym: "Seemanova syndrome 1" RELATED [] xref: MEDGEN:234691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538101 {source="MONDO:equivalentTo"} xref: OMIM:311400 {source="MONDO:equivalentTo"} @@ -239556,9 +239595,9 @@ subset: orphanet_rare {source="Orphanet:2804"} subset: rare synonym: "median cleft upper lip, intellectual disability and pugilistic facies" RELATED [GARD:0000358] synonym: "median cleft upper lip, mental retardation and pugilistic facies" RELATED DEPRECATED [GARD:0000358] -synonym: "Pallister W syndrome" RELATED [OMIM:311450] +synonym: "Pallister W syndrome" RELATED [] synonym: "Pallister-W syndrome" EXACT [Orphanet:2804] -synonym: "W syndrome" EXACT [OMIM:311450] +synonym: "W syndrome" EXACT [OMIM:311450, Orphanet:2804] xref: GARD:358 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2804/attributed", source="Orphanet:2804/ntbt", source="Orphanet:2804"} xref: MEDGEN:163215 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -239585,21 +239624,21 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "basal ganglia disorder with intellectual disability" RELATED [GARD:0003203] synonym: "basal ganglia disorder with mental retardation" RELATED DEPRECATED [GARD:0003203] -synonym: "basal ganglion disorder with intellectual disability" RELATED [OMIM:311510] -synonym: "basal ganglion disorder with mental retardation" RELATED DEPRECATED [OMIM:311510] +synonym: "basal ganglion disorder with intellectual disability" RELATED [] +synonym: "basal ganglion disorder with mental retardation" RELATED DEPRECATED [] synonym: "BGMR" RELATED ABBREVIATION [GARD:0003203] -synonym: "early-onset parkinsonism-intellectual disability syndrome" EXACT CLINGEN_LABEL [] +synonym: "early-onset parkinsonism-intellectual disability syndrome" EXACT CLINGEN_LABEL [DOID:0111781, Orphanet:2379] synonym: "Laxova Brown hogan syndrome" RELATED [GARD:0003203] -synonym: "Laxova-Opitz syndrome" EXACT [Orphanet:2379] +synonym: "Laxova-Opitz syndrome" EXACT [DOID:0111781, icd11.foundation:937544163, Orphanet:2379] synonym: "Parkinsonism, early onset with intellectual disability" RELATED [GARD:0003203] synonym: "Parkinsonism, early onset with mental retardation" RELATED DEPRECATED [GARD:0003203] -synonym: "Parkinsonism, early-onset, with intellectual disability" RELATED [OMIM:311510] -synonym: "Parkinsonism, early-onset, with mental retardation" RELATED DEPRECATED [OMIM:311510] -synonym: "WAISMAN syndrome" RELATED [MONDO:Lexical, OMIM:311510] -synonym: "Waisman syndrome" EXACT [Orphanet:2379] -synonym: "Waisman syndrome, X-linked recessive" EXACT [OMIM:311510, OMIM:genemap2] -synonym: "WSMN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:311510] -synonym: "Wsn" RELATED [OMIM:311510] +synonym: "Parkinsonism, early-onset, with intellectual disability" RELATED [] +synonym: "Parkinsonism, early-onset, with mental retardation" RELATED DEPRECATED [] +synonym: "WAISMAN syndrome" RELATED [MONDO:Lexical] +synonym: "Waisman syndrome" EXACT [DOID:0111781, icd11.foundation:937544163, OMIM:311510, Orphanet:2379] +synonym: "Waisman syndrome, X-linked recessive" EXACT [] +synonym: "WSMN" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Wsn" RELATED [] synonym: "X-linked recessive basal ganglia disorder with intellectual disability" RELATED [GARD:0003203] synonym: "X-linked recessive basal ganglia disorder with mental retardation" RELATED DEPRECATED [GARD:0003203] xref: DOID:0111781 {source="MONDO:equivalentTo"} @@ -239633,7 +239672,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Chitayat Meunier Hodgkinson syndrome" RELATED [GARD:0001274] synonym: "Chitayat-Meunier-Hodgkinson syndrome" EXACT [Orphanet:2888] -synonym: "Pierre Robin sequence with facial and digital anomalies" RELATED [OMIM:311895] +synonym: "Pierre Robin sequence with facial and digital anomalies" RELATED [] synonym: "Pierre Robin sequence-faciodigital anomaly syndrome" EXACT [Orphanet:2888] synonym: "Pierre Robin syndrome, faciodigital anomaly" RELATED [GARD:0001274] synonym: "Robin sequence with facial and digital anomalies" RELATED [GARD:0001274, MESH:C535926] @@ -239660,16 +239699,16 @@ subset: orphanet_rare {source="Orphanet:2886"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Pierre Robin sequence - congenital heart defect - talipes" RELATED [GARD:0010089] -synonym: "Pierre Robin sequence-congenital heart defect-talipes syndrome" EXACT [Orphanet:2886] +synonym: "Pierre Robin sequence-congenital heart defect-talipes syndrome" EXACT [DOID:0111780, Orphanet:2886] synonym: "Pierre Robin syndrome - congenital heart defect - talipes" RELATED [GARD:0010089] -synonym: "Pierre Robin syndrome with congenital heart malformation and clubfoot" RELATED [OMIM:311900] -synonym: "Pierre Robin syndrome-congenital heart defect-talipes syndrome" EXACT [Orphanet:2886] +synonym: "Pierre Robin syndrome with congenital heart malformation and clubfoot" RELATED [] +synonym: "Pierre Robin syndrome-congenital heart defect-talipes syndrome" EXACT [DOID:0111780, Orphanet:2886] synonym: "talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava" RELATED [GARD:0010089] -synonym: "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava" RELATED [OMIM:311900] -synonym: "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" EXACT [Orphanet:2886] -synonym: "tarp syndrome" EXACT [MONDO:Lexical, OMIM:311900] -synonym: "TARP syndrome, X-linked recessive" EXACT [OMIM:311900, OMIM:genemap2] -synonym: "TARPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:311900] +synonym: "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava" RELATED [] +synonym: "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" EXACT [DOID:0111780, Orphanet:2886] +synonym: "tarp syndrome" EXACT [DOID:0111780, MONDO:Lexical, OMIM:311900, Orphanet:2886] +synonym: "TARP syndrome, X-linked recessive" EXACT [] +synonym: "TARPS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111780 {source="MONDO:equivalentTo"} xref: GARD:10089 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2886", source="Orphanet:2886/attributed", source="Orphanet:2886/ntbt"} @@ -239693,10 +239732,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "panhypopituitarism X-linked" RELATED [GARD:0006737] synonym: "panhypopituitarism, X-linked" EXACT [MONDO:Lexical, OMIM:312000] -synonym: "PHPX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312000] -synonym: "pituitary dwarfism IV" RELATED [OMIM:312000] +synonym: "PHPX" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pituitary dwarfism IV" RELATED [] synonym: "pituitary dwarfism IV (formerly)" RELATED [GARD:0006737] -synonym: "pituitary dwarfism IV, formerly" RELATED [OMIM:312000] +synonym: "pituitary dwarfism IV, formerly" RELATED [] xref: DOID:0111779 {source="MONDO:equivalentTo"} xref: GARD:6737 {source="MONDO:GARD"} xref: MEDGEN:87439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -239719,15 +239758,15 @@ subset: ordo_disorder {source="Orphanet:2966"} subset: orphanet_rare {source="Orphanet:2966"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CFPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312060] -synonym: "complement Factor properdin deficiency" RELATED [OMIM:312060] +synonym: "CFPD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "complement Factor properdin deficiency" RELATED [] synonym: "PFD" RELATED ABBREVIATION [GARD:0009913] -synonym: "properdin deficiency, type 1" RELATED [OMIM:312060] -synonym: "properdin deficiency, type 2" RELATED [OMIM:312060] -synonym: "properdin deficiency, type 3" RELATED [OMIM:312060] +synonym: "properdin deficiency, type 1" RELATED [] +synonym: "properdin deficiency, type 2" RELATED [] +synonym: "properdin deficiency, type 3" RELATED [] synonym: "properdin deficiency, X-linked" EXACT [MONDO:Lexical, OMIM:312060] -synonym: "properdin deficiency, X-linked, X-linked recessive" EXACT [OMIM:312060, OMIM:genemap2] -synonym: "properdin P Factor deficiency" RELATED [OMIM:312060] +synonym: "properdin deficiency, X-linked, X-linked recessive" EXACT [] +synonym: "properdin P Factor deficiency" RELATED [] xref: DOID:0111768 {source="MONDO:equivalentTo"} xref: GARD:4513 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="Orphanet:2966", source="Orphanet:2966/attributed", source="Orphanet:2966/ntbt"} @@ -239757,17 +239796,17 @@ subset: rare synonym: "diffuse familial brain sclerosis" EXACT [DOID:3210, Orphanet:702] synonym: "HLD1" EXACT ABBREVIATION [DOID:3210] synonym: "hypomyelinating leukodystrophy 1" EXACT [DOID:3210] -synonym: "leukodystrophy, hypomyelinating, 1" RELATED [OMIM:312080] +synonym: "leukodystrophy, hypomyelinating, 1" RELATED [] synonym: "leukodystrophy, sudanophilic" EXACT [DOID:3210] synonym: "Pelizaeus Merzbacher brain sclerosis" EXACT [DOID:3210] synonym: "Pelizaeus Merzbacher disease" RELATED [GARD:0004265] synonym: "Pelizaeus-Merzbacher brain sclerosis" EXACT [DOID:3210, Orphanet:702] -synonym: "Pelizaeus-Merzbacher disease" EXACT [MONDO:Lexical, OMIM:312080, Orphanet:702] -synonym: "Pelizaeus-Merzbacher disease, X-linked recessive" EXACT [OMIM:312080, OMIM:genemap2] +synonym: "Pelizaeus-Merzbacher disease" EXACT [DOID:3210, icd11.foundation:1313582105, MONDO:Lexical, NCIT:C75487, OMIM:312080, Orphanet:702] +synonym: "Pelizaeus-Merzbacher disease, X-linked recessive" EXACT [] synonym: "Pelizeaus-Merzbacher spectrum disorder" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40006/] synonym: "PMD" EXACT ABBREVIATION [DOID:3210, MONDO:Lexical, OMIM:312080, Orphanet:702] -synonym: "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [Orphanet:702] -synonym: "sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [DOID:3210] +synonym: "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [DOID:3210, Orphanet:702] +synonym: "sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [DOID:3210, Orphanet:702] xref: DECIPHER:38 {source="MONDO:equivalentTo"} xref: DOID:3210 {source="MONDO:equivalentTo"} xref: GARD:4265 {source="MONDO:GARD"} @@ -239814,9 +239853,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lethal multiple pterygium syndrome, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "multiple pterygium syndrome X-linked" RELATED [GARD:0004573] -synonym: "multiple pterygium syndrome, X-linked" RELATED [OMIM:312150] +synonym: "multiple pterygium syndrome, X-linked" RELATED [] synonym: "pterygium syndrome multiple X-linked" RELATED [GARD:0004573] -synonym: "pterygium syndrome, multiple, X-linked" RELATED [OMIM:312150] +synonym: "pterygium syndrome, multiple, X-linked" RELATED [] xref: GARD:4573 {source="MONDO:GARD"} xref: ICD10CM:Q79.8 {source="Orphanet:79447", source="Orphanet:79447/attributed", source="Orphanet:79447/ntbt"} xref: MEDGEN:374225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -239838,19 +239877,19 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79243"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ataxia with lactic acidosis 1" RELATED [GARD:0004620, OMIM:312170] -synonym: "ataxia, intermittent, with abnormal pyruvate metabolism" RELATED [OMIM:312170] -synonym: "ataxia, intermittent, with pyruvate dehydrogenase deficiency" RELATED [OMIM:312170] +synonym: "ataxia with lactic acidosis 1" RELATED [GARD:0004620] +synonym: "ataxia, intermittent, with abnormal pyruvate metabolism" RELATED [] +synonym: "ataxia, intermittent, with pyruvate dehydrogenase deficiency" RELATED [] synonym: "ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency" RELATED [GARD:0004620] -synonym: "lactic acidemia, thiamine-responsive" RELATED [OMIM:312170] -synonym: "PDH deficiency" RELATED [OMIM:312170] +synonym: "lactic acidemia, thiamine-responsive" RELATED [] +synonym: "PDH deficiency" RELATED [] synonym: "PDHAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:312170, Orphanet:79243] -synonym: "pyruvate decarboxylase deficiency" BROAD [Orphanet:79243] -synonym: "pyruvate dehydrogenase Complex deficiency" RELATED [OMIM:312170] +synonym: "pyruvate decarboxylase deficiency" BROAD [] +synonym: "pyruvate dehydrogenase Complex deficiency" RELATED [] synonym: "pyruvate dehydrogenase complex E1 component subunit alpha deficiency" EXACT [Orphanet:79243] -synonym: "pyruvate dehydrogenase E1-ALPHA deficiency" RELATED [OMIM:312170] -synonym: "pyruvate dehydrogenase E1-alpha deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:312170] -synonym: "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant" EXACT [OMIM:312170, OMIM:genemap2] +synonym: "pyruvate dehydrogenase E1-ALPHA deficiency" RELATED [] +synonym: "pyruvate dehydrogenase E1-alpha deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:312170, Orphanet:79243] +synonym: "pyruvate dehydrogenase e1-alpha deficiency, X-linked dominant" EXACT [] xref: GARD:4620 {source="MONDO:GARD"} xref: ICD10CM:E74.4 {source="Orphanet:79243", source="Orphanet:79243/attributed", source="Orphanet:79243/ntbt"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -239876,8 +239915,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:3016"} subset: orphanet_rare {source="Orphanet:3016"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "radial aplasia and anogenital anomalies" RELATED [OMIM:312190] -synonym: "radial aplasia, X-linked" RELATED [OMIM:312190] +synonym: "radial aplasia and anogenital anomalies" RELATED [] +synonym: "radial aplasia, X-linked" RELATED [] synonym: "radius absent anogenital anomalies" RELATED [GARD:0004633] xref: GARD:4633 {source="MONDO:GARD"} xref: MEDGEN:333312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -239894,7 +239933,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010719 name: radiation sensitivity of natural killer activity synonym: "radiation sensitivity of natural killer activity" EXACT [OMIM:312210] -synonym: "X-Ray Nk sensitivity" RELATED [OMIM:312210] +synonym: "X-Ray Nk sensitivity" RELATED [] xref: MEDGEN:333311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564066 {source="MONDO:equivalentTo"} xref: OMIM:312210 {source="MONDO:equivalentTo"} @@ -239914,15 +239953,15 @@ subset: rare synonym: "androgen insensitivity syndrome, partial" RELATED [GARD:0005692, GTR:AN0098649] synonym: "androgen insensitivity, partial" EXACT [MONDO:Lexical, OMIM:312300] synonym: "androgen insensitivity, partial, with or without breast cancer" EXACT [OMIM:312300] -synonym: "androgen insensitivity, partial, with or without breast cancer, X-linked recessive" EXACT [OMIM:312300, OMIM:genemap2] +synonym: "androgen insensitivity, partial, with or without breast cancer, X-linked recessive" EXACT [] synonym: "androgen resistance syndrome, partial" RELATED [GARD:0005692, GTR:AN0098650] synonym: "familial incomplete Male pseudohermaphroditism, type 1" EXACT [OMIM:312300] synonym: "incomplete male pseudohermaphroditism" RELATED [GTR:AN0098651] -synonym: "PAIS" EXACT ABBREVIATION [GTR:AN0098652, MONDO:Lexical, OMIM:312300, Orphanet:90797] -synonym: "pais" EXACT [OMIM:312300] +synonym: "PAIS" EXACT ABBREVIATION [GTR:AN0098652, MONDO:Lexical, NCIT:C120192, OMIM:312300, Orphanet:90797] +synonym: "pais" EXACT [] synonym: "partial androgen resistance syndrome" EXACT [Orphanet:90797] -synonym: "pseudohermaphroditism, incomplete male, type I" EXACT [MONDO:0010715, OMIM:312100] -synonym: "Reifenstein syndrome" EXACT [OMIM:312300] +synonym: "pseudohermaphroditism, incomplete male, type I" EXACT [MONDO:0010715] +synonym: "Reifenstein syndrome" EXACT [DOID:0080776, ICD10CM:E34.52, OMIM:312300] synonym: "Reifenstein syndrome, partial" EXACT [GARD:0005692, GTR:AN0098654] synonym: "type I familial incomplete male pseudohermaphroditism" RELATED [GTR:AN0098655] xref: DOID:0080776 {source="MONDO:equivalentTo"} @@ -239971,9 +240010,9 @@ subset: ordo_disorder {source="Orphanet:1852"} subset: orphanet_rare {source="Orphanet:1852"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312550] +synonym: "PRD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "retinal dysplasia X-linked" RELATED [GARD:0004680] -synonym: "retinal dysplasia, primary" RELATED [MONDO:Lexical, OMIM:312550] +synonym: "retinal dysplasia, primary" RELATED [MONDO:Lexical] xref: GARD:4680 {source="MONDO:GARD"} xref: ICD10CM:Q14.1 {source="Orphanet:1852", source="Orphanet:1852/attributed", source="Orphanet:1852/ntbt"} xref: MEDGEN:909011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -239991,9 +240030,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:10380", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:312600] +synonym: "retinitis pigmentosa 2" EXACT CLINGEN_LABEL [DOID:0110415, MONDO:Lexical, OMIM:312600] synonym: "retinitis pigmentosa caused by mutation in RP2" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 2" EXACT [DOID:0110415, MONDORULE:1, OMIM:312600] +synonym: "retinitis pigmentosa type 2" EXACT [MONDORULE:1] synonym: "RP2" EXACT ABBREVIATION [DOID:0110415, MONDO:Lexical, OMIM:312600] synonym: "RP2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110415 {source="MONDO:equivalentTo"} @@ -240031,20 +240070,20 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "juvenile retinoschisis" RELATED [GARD:0004690] synonym: "juvenile X-linked retinoschisis" EXACT [NCIT:C75483] -synonym: "retinoschisis 1, X-linked, juvenile" RELATED [MONDO:Lexical, OMIM:312700] +synonym: "retinoschisis 1, X-linked, juvenile" RELATED [MONDO:Lexical] synonym: "retinoschisis juvenile X chromosome-linked" RELATED [GARD:0004690] synonym: "retinoschisis X-linked" RELATED [GARD:0004690] synonym: "retinoschisis, X-linked" EXACT [MONDO:design_pattern, MONDO:patterns/x_linked] -synonym: "retinoschisis, X-linked recessive" EXACT [OMIM:312700, OMIM:genemap2] -synonym: "RS" RELATED ABBREVIATION [OMIM:312700] -synonym: "RS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312700] +synonym: "retinoschisis, X-linked recessive" EXACT [] +synonym: "RS" RELATED ABBREVIATION [] +synonym: "RS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "X-linked juvenile retinoschisis" EXACT [DOID:0060763, Orphanet:792] -synonym: "X-linked juvenile retinoschisis 1" RELATED [DOID:0060763] -synonym: "X-linked juvenile retinoschisis type 1" EXACT [DOID:0060763, MONDORULE:1] -synonym: "X-linked retinoschisis" EXACT CLINGEN_LABEL [DOID:0060763] +synonym: "X-linked juvenile retinoschisis 1" RELATED [] +synonym: "X-linked juvenile retinoschisis type 1" EXACT [MONDORULE:1] +synonym: "X-linked retinoschisis" EXACT CLINGEN_LABEL [DOID:0060763, icd11.foundation:2074506458, Orphanet:792] synonym: "XJR" RELATED ABBREVIATION [GARD:0004690] synonym: "XLRS" EXACT ABBREVIATION [DOID:0060763, Orphanet:792] -synonym: "XLRS1" RELATED ABBREVIATION [OMIM:312700] +synonym: "XLRS1" RELATED ABBREVIATION [] xref: DOID:0060763 {source="MONDO:equivalentTo"} xref: GARD:4690 {source="MONDO:GARD"} xref: ICD10CM:Q14.1 {source="DOID:0060763", source="Orphanet:792/attributed", source="Orphanet:792/ntbt", source="Orphanet:792"} @@ -240076,15 +240115,15 @@ subset: ordo_disorder {source="Orphanet:778"} subset: orphanet_rare {source="Orphanet:778"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autism, dementia, ataxia, and loss of purposeful hand use" RELATED [OMIM:312750] +synonym: "autism, dementia, ataxia, and loss of purposeful hand use" RELATED [] synonym: "cerebroatrophic hyperammonemia" EXACT [DOID:1206] -synonym: "Rett syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:312750] -synonym: "Rett syndrome, atypical" RELATED [OMIM:312750] -synonym: "Rett syndrome, atypical, X-linked dominant" EXACT [OMIM:312750, OMIM:genemap2] -synonym: "Rett syndrome, preserved speech variant" RELATED [OMIM:312750] -synonym: "Rett syndrome, preserved speech variant, X-linked dominant" EXACT [OMIM:312750, OMIM:genemap2] -synonym: "Rett syndrome, X-linked dominant" EXACT [OMIM:312750, OMIM:genemap2] -synonym: "Rett syndrome, Zappella variant" RELATED [OMIM:312750] +synonym: "Rett syndrome" EXACT CLINGEN_LABEL [DOID:1206, MONDO:Lexical, NCIT:C75488, OMIM:312750, Orphanet:778] +synonym: "Rett syndrome, atypical" RELATED [] +synonym: "Rett syndrome, atypical, X-linked dominant" EXACT [] +synonym: "Rett syndrome, preserved speech variant" RELATED [] +synonym: "Rett syndrome, preserved speech variant, X-linked dominant" EXACT [] +synonym: "Rett syndrome, X-linked dominant" EXACT [] +synonym: "Rett syndrome, Zappella variant" RELATED [] synonym: "Rett's disorder" EXACT [DOID:1206] synonym: "Rett’s disease" EXACT [PMID:37498137] synonym: "RTS" EXACT ABBREVIATION [OMIM:312750] @@ -240126,9 +240165,9 @@ id: MONDO:0010727 name: Russell-silver syndrome, X-linked subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Partington syndrome" RELATED [OMIM:312780] +synonym: "Partington syndrome" RELATED [] synonym: "Russell-silver syndrome, X-linked" EXACT [OMIM:312780] -synonym: "Russell-Silver-like syndrome with skin pigmentation" RELATED [OMIM:312780] +synonym: "Russell-Silver-like syndrome with skin pigmentation" RELATED [] xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:67401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:312780 {source="MONDO:equivalentTo"} @@ -240147,8 +240186,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:3134"} subset: orphanet_rare {source="Orphanet:3134"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCARF syndrome" EXACT [OMIM:312830] -synonym: "skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities" RELATED [OMIM:312830] +synonym: "SCARF syndrome" EXACT [icd11.foundation:1075253748, OMIM:312830, Orphanet:3134] +synonym: "skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities" RELATED [] xref: GARD:247 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:3134", source="Orphanet:3134/attributed", source="Orphanet:3134/ntbt"} xref: icd11.foundation:1075253748 {source="MONDO:equivalentTo"} @@ -240178,12 +240217,12 @@ subset: rare synonym: "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness" RELATED [GARD:0009288] synonym: "childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness" RELATED DEPRECATED [GARD:0009288] synonym: "choreoathetosis with intellectual disability X- linked" RELATED [GARD:0009288] -synonym: "choreoathetosis with intellectual disability, X-linked" RELATED [OMIM:312840] +synonym: "choreoathetosis with intellectual disability, X-linked" RELATED [] synonym: "choreoathetosis with mental retardation X- linked" RELATED DEPRECATED [GARD:0009288] -synonym: "choreoathetosis with mental retardation, X-linked" RELATED DEPRECATED [OMIM:312840] +synonym: "choreoathetosis with mental retardation, X-linked" RELATED DEPRECATED [] synonym: "progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness" RELATED [GARD:0009288] -synonym: "Schimke X-linked intellectual disability syndrome" RELATED [OMIM:312840] -synonym: "Schimke X-linked mental retardation syndrome" RELATED DEPRECATED [OMIM:312840] +synonym: "Schimke X-linked intellectual disability syndrome" RELATED [] +synonym: "Schimke X-linked mental retardation syndrome" RELATED DEPRECATED [] xref: GARD:9288 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85285/attributed", source="Orphanet:85285/ntbt", source="Orphanet:85285"} xref: MEDGEN:374193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -240203,11 +240242,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CIDX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:312863] +synonym: "CIDX" RELATED ABBREVIATION [MONDO:Lexical] synonym: "combined immunodeficiency, X-linked" EXACT [MONDO:Lexical, OMIM:312863] -synonym: "combined immunodeficiency, X-linked, moderate, X-linked recessive" EXACT [OMIM:312863, OMIM:genemap2] -synonym: "immunodeficiency 6" RELATED [OMIM:312863] -synonym: "Xcid" RELATED [OMIM:312863] +synonym: "combined immunodeficiency, X-linked, moderate, X-linked recessive" EXACT [] +synonym: "immunodeficiency 6" RELATED [] +synonym: "Xcid" RELATED [] xref: EFO:1001451 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: OMIM:312863 {source="MONDO:equivalentTo"} is_a: MONDO:0044200 {source="PMID:31953710"} ! T-B+ severe combined immunodeficiency @@ -240229,15 +240268,15 @@ subset: orphanet_rare {source="Orphanet:373"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DGSX" EXACT ABBREVIATION [Orphanet:373] -synonym: "dysplasia gigantism syndrome, X-linked" RELATED [OMIM:312870] -synonym: "Golabi-Rosen syndrome" EXACT [DOID:0060248, Orphanet:373] -synonym: "Sara Angers syndrome" EXACT [DOID:0060248] +synonym: "dysplasia gigantism syndrome, X-linked" RELATED [] +synonym: "Golabi-Rosen syndrome" EXACT [Orphanet:373] +synonym: "Sara Angers syndrome" EXACT [] synonym: "SDYS" EXACT ABBREVIATION [Orphanet:373] -synonym: "SGB syndrome" EXACT [DOID:0060248] +synonym: "SGB syndrome" EXACT [] synonym: "SGBS" EXACT ABBREVIATION [Orphanet:373] -synonym: "Sgbs" RELATED [OMIM:312870] -synonym: "Simpson-Golabi-Behmel syndrome" EXACT CLINGEN_LABEL [] -synonym: "X-linked dysplasia gigantism syndrome" EXACT [DOID:0060248, Orphanet:373] +synonym: "Sgbs" RELATED [] +synonym: "Simpson-Golabi-Behmel syndrome" EXACT CLINGEN_LABEL [icd11.foundation:181316558, NCIT:C131002, Orphanet:373] +synonym: "X-linked dysplasia gigantism syndrome" EXACT [Orphanet:373] xref: GARD:7649 {source="MONDO:GARD"} xref: ICD10CM:Q87.3 {source="Orphanet:373", source="Orphanet:373/attributed", source="Orphanet:373/ntbt"} xref: icd11.foundation:181316558 {source="MONDO:equivalentTo"} @@ -240275,7 +240314,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial spastic paraparesis and deafness" RELATED [GARD:0005555] synonym: "spastic paraparesis - deafness" RELATED [GARD:0005555] -synonym: "spastic paraparesis and deafness" RELATED [OMIM:312910] +synonym: "spastic paraparesis and deafness" RELATED [] synonym: "Wells-Jankovic syndrome" EXACT [Orphanet:2815] xref: DOID:0081100 {source="MONDO:equivalentTo"} xref: GARD:5555 {source="MONDO:GARD"} @@ -240299,16 +240338,16 @@ subset: orphanet_rare {source="Orphanet:99015"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary spastic paraplegia caused by mutation in PLP1" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 2" EXACT [DOID:0110773, MONDORULE:1] +synonym: "hereditary spastic paraplegia type 2" EXACT [MONDORULE:1] synonym: "PLP1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic gait type 2" EXACT [Orphanet:99015] synonym: "spastic paraparesis type 2" EXACT [Orphanet:99015] synonym: "spastic paraplegia 2" RELATED [GARD:0004923] -synonym: "spastic paraplegia 2, X-linked" RELATED [MONDO:Lexical, OMIM:312920] -synonym: "spastic paraplegia 2, X-linked, X-linked recessive" EXACT [OMIM:312920, OMIM:genemap2] -synonym: "spastic paraplegia type 2" EXACT [DOID:0110773] +synonym: "spastic paraplegia 2, X-linked" RELATED [MONDO:Lexical] +synonym: "spastic paraplegia 2, X-linked, X-linked recessive" EXACT [] +synonym: "spastic paraplegia type 2" EXACT [DOID:0110773, Orphanet:99015] synonym: "SPG2" EXACT ABBREVIATION [DOID:0110773, MONDO:Lexical, OMIM:312920, Orphanet:99015] -synonym: "Sppx2" RELATED [OMIM:312920] +synonym: "Sppx2" RELATED [] synonym: "X-linked spastic paraplegia 2" EXACT [DOID:0110773] synonym: "X-linked spastic paraplegia type 2" EXACT [Orphanet:99015] xref: DOID:0110773 {source="MONDO:equivalentTo"} @@ -240331,10 +240370,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010734 name: spatial visualization, aptitude for synonym: "spatial visualization, aptitude for" EXACT [OMIM:313000] -synonym: "Turner syndrome-associated Neurocognitive phenotype" RELATED [OMIM:313000] -synonym: "Turner syndrome-associated neurocognitive phenotype, X-linked recessive" EXACT [OMIM:313000, OMIM:genemap2] -synonym: "visuospatial/perceptual abilities" RELATED [OMIM:313000] -synonym: "visuospatial/perceptual abilities, X-linked recessive" EXACT [OMIM:313000, OMIM:genemap2] +synonym: "Turner syndrome-associated Neurocognitive phenotype" RELATED [] +synonym: "Turner syndrome-associated neurocognitive phenotype, X-linked recessive" EXACT [] +synonym: "visuospatial/perceptual abilities" RELATED [] +synonym: "visuospatial/perceptual abilities, X-linked recessive" EXACT [] xref: MEDGEN:326850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564058 {source="MONDO:equivalentTo"} xref: OMIM:313000 {source="MONDO:equivalentTo"} @@ -240352,17 +240391,17 @@ subset: ordo_disorder {source="Orphanet:481"} subset: orphanet_rare {source="Orphanet:481"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bulbospinal muscular atrophy, X-linked" RELATED [OMIM:313200] -synonym: "bulbospinal neuronopathy, X-linked recessive" RELATED [OMIM:313200] -synonym: "Kennedy disease" EXACT [DOID:0060161, OMIM:313200] -synonym: "Kennedy spinal and bulbar muscular atrophy" RELATED [OMIM:313200] -synonym: "Kennedy's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "SBMA" EXACT ABBREVIATION [DOID:0060161, Orphanet:481] -synonym: "SMAX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:313200, Orphanet:481] -synonym: "spinal and bulbar muscular atrophy" RELATED [OMIM:313200] -synonym: "spinal and bulbar muscular atrophy of Kennedy, X-linked recessive" EXACT [OMIM:313200, OMIM:genemap2] -synonym: "spinal and bulbar muscular atrophy, X-linked 1" RELATED [MONDO:Lexical, OMIM:313200] -synonym: "spinal and bulbar muscular atrophy, X-linked type 1" EXACT [MONDORULE:1, OMIM:313200] +synonym: "bulbospinal muscular atrophy, X-linked" RELATED [] +synonym: "bulbospinal neuronopathy, X-linked recessive" RELATED [] +synonym: "Kennedy disease" EXACT [DOID:0060161, NCIT:C85233, OMIM:313200, Orphanet:481] +synonym: "Kennedy spinal and bulbar muscular atrophy" RELATED [] +synonym: "Kennedy's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0060161, MONDO:LexicalVariant] +synonym: "SBMA" EXACT ABBREVIATION [DOID:0060161, NCIT:C85233, Orphanet:481] +synonym: "SMAX1" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C85233, OMIM:313200, Orphanet:481] +synonym: "spinal and bulbar muscular atrophy" RELATED [] +synonym: "spinal and bulbar muscular atrophy of Kennedy, X-linked recessive" EXACT [] +synonym: "spinal and bulbar muscular atrophy, X-linked 1" RELATED [MONDO:Lexical] +synonym: "spinal and bulbar muscular atrophy, X-linked type 1" EXACT [MONDORULE:1] synonym: "spinal bulbar muscular atrophy" EXACT [DOID:0060161] synonym: "spinobulbar muscular atrophy" EXACT [DOID:0060161] synonym: "X-linked BSMA" EXACT [Orphanet:481] @@ -240399,15 +240438,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "SHFD2" RELATED ABBREVIATION [GARD:0004968] synonym: "SHFM2" EXACT ABBREVIATION [DOID:0090027, GARD:0004968, MONDO:Lexical, OMIM:313350] -synonym: "SHSF2" RELATED ABBREVIATION [GARD:0004968, OMIM:313350] +synonym: "SHSF2" RELATED ABBREVIATION [GARD:0004968] synonym: "split hand foot anomaly - X-linked" RELATED [GARD:0004968] synonym: "split hand foot deformity 2" RELATED [GARD:0004968] -synonym: "split hand-foot malformation type 2" EXACT [DOID:0090027, MONDORULE:1] -synonym: "split hand/foot malformation 2" EXACT [OMIM:313350, OMIM:genemap2] +synonym: "split hand-foot malformation type 2" EXACT [MONDORULE:1] +synonym: "split hand/foot malformation 2" EXACT [] synonym: "split hand/foot malformation X-linked" RELATED [GARD:0004968] -synonym: "split-hand/foot deformity 2" RELATED [OMIM:313350] -synonym: "split-hand/foot malformation 2" RELATED [MONDO:Lexical, OMIM:313350] -synonym: "split-hand/split-foot anomaly, X-linked" RELATED [OMIM:313350] +synonym: "split-hand/foot deformity 2" RELATED [] +synonym: "split-hand/foot malformation 2" RELATED [MONDO:Lexical] +synonym: "split-hand/split-foot anomaly, X-linked" RELATED [] xref: DOID:0090027 {source="MONDO:equivalentTo"} xref: GARD:15308 {source="MONDO:GARD"} xref: ICD10CM:Q71.6 {source="DOID:0090027"} @@ -240427,12 +240466,12 @@ subset: gard_rare {source="GARD:4985", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "SED" RELATED ABBREVIATION [GARD:0004985] -synonym: "Sed tarda, X-linked" RELATED [OMIM:313400] -synonym: "SEDT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313400] +synonym: "Sed tarda, X-linked" RELATED [] +synonym: "SEDT" RELATED ABBREVIATION [MONDO:Lexical] synonym: "spondyloepiphyseal dysplasia tarda X-linked" RELATED [GARD:0004985] -synonym: "spondyloepiphyseal dysplasia tarda, X-linked" EXACT [MONDO:Lexical, OMIM:313400] -synonym: "spondyloepiphyseal dysplasia tarda, X-linked recessive" EXACT [OMIM:313400, OMIM:genemap2] -synonym: "spondyloepiphyseal dysplasia, late" RELATED [OMIM:313400] +synonym: "spondyloepiphyseal dysplasia tarda, X-linked" EXACT [icd11.foundation:219612045, MONDO:Lexical, OMIM:313400] +synonym: "spondyloepiphyseal dysplasia tarda, X-linked recessive" EXACT [] +synonym: "spondyloepiphyseal dysplasia, late" RELATED [] synonym: "X linked spondyloepiphyseal dysplasia tarda" RELATED [GARD:0004985] synonym: "X-linked spondyloepiphyseal dysplasia" RELATED [GARD:0004985] xref: DOID:0080362 {source="MONDO:equivalentTo"} @@ -240463,8 +240502,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "spondylometaphyseal dysplasia Richmond type" RELATED [GARD:0008343] synonym: "spondylometaphyseal dysplasia X-linked" RELATED [GARD:0008343] -synonym: "spondylometaphyseal dysplasia, Richmond type" RELATED [OMIM:313420] -synonym: "spondylometaphyseal dysplasia, X-linked" RELATED [OMIM:313420] +synonym: "spondylometaphyseal dysplasia, Richmond type" RELATED [] +synonym: "spondylometaphyseal dysplasia, X-linked" RELATED [] synonym: "X-linked spondylometaphyseal dysplasia" EXACT [Orphanet:168544] xref: GARD:8343 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:168544/attributed", source="Orphanet:168544/ntbt", source="Orphanet:168544"} @@ -240479,8 +240518,8 @@ is_a: MONDO:0016763 {source="DC-OMIM:313420", source="OMIM:313420", source="Orph [Term] id: MONDO:0010739 name: Taqi polymorphism -synonym: "TAQ1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313480] -synonym: "TaqI polymorphism" RELATED [OMIM:313480] +synonym: "TAQ1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "TaqI polymorphism" RELATED [] synonym: "Taqi polymorphism" EXACT [MONDO:Lexical, OMIM:313480] xref: MEDGEN:374172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:313480 {source="MONDO:equivalentTo"} @@ -240506,12 +240545,12 @@ def: "Any tooth agenesis in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:18246", source="MONDO:GARD"} subset: rare synonym: "EDA tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hypodontia/oligodontia, X-linked, 1" RELATED [OMIM:313500] -synonym: "STHAGX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313500] +synonym: "hypodontia/oligodontia, X-linked, 1" RELATED [] +synonym: "STHAGX1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "tooth agenesis caused by mutation in EDA" EXACT [MONDO:design_pattern] -synonym: "tooth agenesis, selective, X-linked 1, X-linked dominant" EXACT [OMIM:313500, OMIM:genemap2] +synonym: "tooth agenesis, selective, X-linked 1, X-linked dominant" EXACT [] synonym: "tooth agenesis, selective, X-linked, 1" EXACT [MONDO:Lexical, OMIM:313500] -synonym: "tooth agenesis, selective, X-linked, type 1" EXACT [MONDORULE:1, OMIM:313500] +synonym: "tooth agenesis, selective, X-linked, type 1" EXACT [MONDORULE:1] xref: GARD:18246 {source="MONDO:GARD"} xref: MEDGEN:410143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567060 {source="MONDO:equivalentTo"} @@ -240541,12 +240580,12 @@ synonym: "Cantrell deformity" EXACT [Orphanet:1335] synonym: "Cantrell Haller Ravitsch syndrome" RELATED [GARD:0007359] synonym: "Cantrell pentalogy" RELATED [GARD:0007359] synonym: "Cantrell syndrome" EXACT [Orphanet:1335] -synonym: "Midline defects, X-linked" RELATED [OMIM:313850] -synonym: "pentalogy of Cantrell" EXACT [OMIM:313850] -synonym: "Tas" RELATED [OMIM:313850] -synonym: "THAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313850] +synonym: "Midline defects, X-linked" RELATED [] +synonym: "pentalogy of Cantrell" EXACT [NCIT:C99011, Orphanet:1335] +synonym: "Tas" RELATED [] +synonym: "THAS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "thoraco-abdominal syndrome" EXACT [Orphanet:1335] -synonym: "thoracoabdominal syndrome" RELATED [MONDO:Lexical, OMIM:313850] +synonym: "thoracoabdominal syndrome" RELATED [MONDO:Lexical] xref: GARD:7359 {source="MONDO:GARD"} xref: ICD10CM:Q89.7 {source="Orphanet:1335", source="Orphanet:1335/attributed", source="Orphanet:1335/ntbt"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -240571,15 +240610,15 @@ subset: ordo_etiological_subtype {source="Orphanet:852"} subset: ordo_subtype_of_a_disorder {source="Orphanet:852"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "THC" RELATED ABBREVIATION [OMIM:313900] -synonym: "THC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:313900] -synonym: "thrombocytopenia 1" EXACT [MONDO:Lexical, OMIM:313900] -synonym: "thrombocytopenia type 1" EXACT [MONDORULE:1, OMIM:313900] -synonym: "thrombocytopenia, X-linked" RELATED [OMIM:313900] -synonym: "thrombocytopenia, X-linked, 1" RELATED [OMIM:313900] -synonym: "thrombocytopenia, X-linked, intermittent" RELATED [OMIM:313900] -synonym: "thrombocytopenia, X-linked, intermittent, X-linked recessive" EXACT [OMIM:313900, OMIM:genemap2] -synonym: "thrombocytopenia, X-linked, X-linked recessive" EXACT [OMIM:313900, OMIM:genemap2] +synonym: "THC" RELATED ABBREVIATION [] +synonym: "THC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thrombocytopenia 1" EXACT [MONDO:Lexical, NCIT:C176617, OMIM:313900] +synonym: "thrombocytopenia type 1" EXACT [MONDORULE:1] +synonym: "thrombocytopenia, X-linked" RELATED [] +synonym: "thrombocytopenia, X-linked, 1" RELATED [] +synonym: "thrombocytopenia, X-linked, intermittent" RELATED [] +synonym: "thrombocytopenia, X-linked, intermittent, X-linked recessive" EXACT [] +synonym: "thrombocytopenia, X-linked, X-linked recessive" EXACT [] synonym: "X-linked thrombocytopenia" RELATED [GARD:0005176] synonym: "X-linked thrombocytopenia with normal platelets" EXACT [Orphanet:852] synonym: "XLT" RELATED ABBREVIATION [GARD:0005176] @@ -240618,11 +240657,11 @@ subset: ordo_disorder {source="Orphanet:231393"} subset: orphanet_rare {source="Orphanet:231393"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "thrombocytopenia with BETA-thalassemia, X-linked" RELATED [MONDO:Lexical, OMIM:314050] -synonym: "thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive" EXACT [OMIM:314050, OMIM:genemap2] -synonym: "thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis" RELATED [OMIM:314050] -synonym: "X-linked thrombocytopenia with Beta-thalassemia" EXACT [NCIT:C134941] -synonym: "XLTT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314050, Orphanet:231393] +synonym: "thrombocytopenia with BETA-thalassemia, X-linked" RELATED [MONDO:Lexical] +synonym: "thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive" EXACT [] +synonym: "thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis" RELATED [] +synonym: "X-linked thrombocytopenia with Beta-thalassemia" EXACT [DOID:0111767, NCIT:C134941] +synonym: "XLTT" EXACT ABBREVIATION [DOID:0111767, MONDO:Lexical, NCIT:C134941, OMIM:314050, Orphanet:231393] xref: DOID:0111767 {source="MONDO:equivalentTo"} xref: GARD:17166 {source="MONDO:GARD"} xref: ICD10CM:D69.4 {source="Orphanet:231393/attributed", source="Orphanet:231393/ntbt", source="Orphanet:231393"} @@ -240642,7 +240681,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010746 name: thumbs, congenital Clasped -synonym: "adducted thumbs syndrome" RELATED [OMIM:314100] +synonym: "adducted thumbs syndrome" RELATED [] synonym: "Clasped thumbs, congenital" RELATED [GARD:0010277] synonym: "thumbs, congenital Clasped" EXACT [OMIM:314100] xref: MEDGEN:98140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -240662,19 +240701,19 @@ subset: ordo_disorder {source="Orphanet:53351"} subset: orphanet_rare {source="Orphanet:53351"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dystonia 3, torsion, X-linked" RELATED [MONDO:Lexical, OMIM:314250] -synonym: "dystonia-Parkinsonism, X-linked" RELATED [OMIM:314250] -synonym: "dystonia-Parkinsonism, X-linked, X-linked recessive" EXACT [OMIM:314250, OMIM:genemap2] +synonym: "dystonia 3, torsion, X-linked" RELATED [MONDO:Lexical] +synonym: "dystonia-Parkinsonism, X-linked" RELATED [] +synonym: "dystonia-Parkinsonism, X-linked, X-linked recessive" EXACT [] synonym: "DYT-TAF1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] -synonym: "DYT3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314250, Orphanet:53351] +synonym: "DYT3" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C126330, OMIM:314250, Orphanet:53351] synonym: "Lubag" EXACT [Orphanet:53351] synonym: "Lubag syndrome" EXACT [Orphanet:53351] -synonym: "torsion dystonia-Parkinsonism, Filipino type" RELATED [OMIM:314250] +synonym: "torsion dystonia-Parkinsonism, Filipino type" RELATED [] synonym: "X-linked dystonia Parkinsonism" EXACT [NCIT:C126330] synonym: "X-linked dystonia-Parkinsonism syndrome" RELATED [GARD:0010533] synonym: "X-linked dystonia-parkinsonism/Lubag" RELATED [GARD:0010533] synonym: "X-linked torsion dystonia-Parkinsonism syndrome" RELATED [GARD:0010533] -synonym: "XDP" EXACT ABBREVIATION [Orphanet:53351] +synonym: "XDP" EXACT ABBREVIATION [NCIT:C126330, Orphanet:53351] xref: DOID:0090057 {source="MONDO:equivalentTo"} xref: GARD:10533 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="DOID:0090057", source="Orphanet:53351/attributed", source="Orphanet:53351/ntbt", source="Orphanet:53351"} @@ -240706,13 +240745,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:3341"} subset: orphanet_rare {source="Orphanet:3341"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Goeminne syndrome" RELATED [OMIM:314300] -synonym: "Goeminne TKCR syndrome" EXACT [OMIM:314300, OMIM:genemap2] -synonym: "Tkc" RELATED [OMIM:314300] -synonym: "TKCR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:314300] -synonym: "Tkcr syndrome" RELATED [OMIM:314300] +synonym: "Goeminne syndrome" RELATED [] +synonym: "Goeminne TKCR syndrome" EXACT [] +synonym: "Tkc" RELATED [] +synonym: "TKCR" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Tkcr syndrome" RELATED [] synonym: "torticollis keloids cryptorchidism renal dysplasia" RELATED [GARD:0005230] -synonym: "torticollis, keloids, cryptorchidism, and renal dysplasia" RELATED [MONDO:Lexical, OMIM:314300] +synonym: "torticollis, keloids, cryptorchidism, and renal dysplasia" RELATED [MONDO:Lexical] xref: GARD:5230 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3341/attributed", source="Orphanet:3341/ntbt", source="Orphanet:3341"} xref: MEDGEN:326819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -240737,8 +240776,8 @@ subset: orphanet_rare {source="Orphanet:3369"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Say Meyer syndrome" RELATED [GARD:0000243] -synonym: "Say-Meyer syndrome" EXACT [Orphanet:3369] -synonym: "trigonocephaly with short stature and developmental delay" RELATED [OMIM:314320] +synonym: "Say-Meyer syndrome" EXACT [OMIM:314320, Orphanet:3369] +synonym: "trigonocephaly with short stature and developmental delay" RELATED [] synonym: "trigonocephaly, short stature and developmental delay" RELATED [GARD:0000243] synonym: "trigonocephaly, short stature, and retarded psychomotor development" RELATED [GARD:0000243] xref: GARD:243 {source="MONDO:GARD"} @@ -240768,7 +240807,7 @@ synonym: "complete absence of the ulna and of fingers 2 to 5, together with lobs synonym: "familial ulnar aplasia and lobster claw syndrome" RELATED [GARD:0005400] synonym: "severe ulnar aplasia and lobster claw feet" RELATED [GARD:0005400] synonym: "ulnar hypoplasia lobster claw deformity of feet" RELATED [GARD:0005400] -synonym: "ulnar hypoplasia with lobster-claw deformity of feet" RELATED [OMIM:314360] +synonym: "ulnar hypoplasia with lobster-claw deformity of feet" RELATED [] synonym: "ulnar hypoplasia-lobster-claw deformity of feet syndrome" EXACT [Orphanet:1122] synonym: "Van De Berghe Dequeker syndrome" RELATED [GARD:0005400] synonym: "Van den Berghe-Dequecker syndrome" EXACT [Orphanet:1122] @@ -240804,9 +240843,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "VACTERL association with hydrocephaly, X-linked" RELATED [GARD:0008498] synonym: "VACTERL association, X-linked, with or without hydrocephalus" EXACT [MONDO:Lexical, OMIM:314390] -synonym: "VACTERL association, X-linked, X-linked recessive" EXACT [OMIM:314390, OMIM:genemap2] -synonym: "VACTERL-H, X-linked" RELATED [OMIM:314390] -synonym: "VACTERLX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:314390] +synonym: "VACTERL association, X-linked, X-linked recessive" EXACT [] +synonym: "VACTERL-H, X-linked" RELATED [] +synonym: "VACTERLX" RELATED ABBREVIATION [MONDO:Lexical] synonym: "X-linked VACTERL-H syndrome" RELATED [GARD:0008498] xref: DOID:0111766 {source="MONDO:equivalentTo"} xref: GARD:15309 {source="MONDO:GARD"} @@ -240831,10 +240870,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiac valvular dysplasia, X-linked" EXACT [MONDO:Lexical, OMIM:314400] synonym: "congenital valvular dysplasia" EXACT [MONDO:0015989] -synonym: "CVD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314400] +synonym: "CVD1" EXACT ABBREVIATION [DOID:0111765, MONDO:Lexical] synonym: "myxomatous valvular dystrophy, X-linked" EXACT [OMIM:314400] synonym: "valvular heart disease, congenital" EXACT [OMIM:314400] -synonym: "XMVD" EXACT ABBREVIATION [GARD:0001096] +synonym: "XMVD" EXACT ABBREVIATION [DOID:0111765, GARD:0001096] xref: DOID:0111765 {source="MONDO:equivalentTo"} xref: GARD:1096 {source="MONDO:GARD"} xref: ICD10CM:Q24.8 {source="Orphanet:1864", source="Orphanet:1864/attributed", source="Orphanet:1864/ntbt"} @@ -240860,7 +240899,7 @@ subset: orphanet_rare {source="Orphanet:3417"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity" RELATED [GARD:0005453] -synonym: "van den Bosch syndrome" EXACT [OMIM:314500] +synonym: "van den Bosch syndrome" EXACT [OMIM:314500, Orphanet:3417] xref: GARD:5453 {source="MONDO:GARD"} xref: MEDGEN:162920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563129 {source="MONDO:equivalentTo"} @@ -240879,7 +240918,7 @@ name: vesicoureteral reflux, X-linked subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "vesicoureteral reflux, X-linked" EXACT [MONDO:Lexical, OMIM:314550] -synonym: "VURX" RELATED ABBREVIATION [MONDO:Lexical, OMIM:314550] +synonym: "VURX" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:374134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564042 {source="MONDO:equivalentTo"} xref: OMIM:314550 {source="MONDO:equivalentTo"} @@ -240906,7 +240945,7 @@ is_a: MONDO:0019565 {source="DC-OMIM:314560", source="MESH:C564041"} ! hereditar id: MONDO:0010757 name: widow's peak syndrome synonym: "widow's peak syndrome" EXACT [OMIM:314570] -synonym: "widow's peak, ptosis, and skeletal anomalies" RELATED [OMIM:314570] +synonym: "widow's peak, ptosis, and skeletal anomalies" RELATED [] xref: MEDGEN:374133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564040 {source="MONDO:equivalentTo"} xref: OMIM:314570 {source="MONDO:equivalentTo"} @@ -240928,21 +240967,21 @@ synonym: "apraxia, oculomotor, with congenital contractures and muscle atrophy" synonym: "contractures of feet, muscle atrophy, and oculomotor apraxia" EXACT [OMIM:314580] synonym: "foot contractures-muscle atrophy-oculomotor apraxia syndrome" EXACT [Orphanet:3454] synonym: "intellectual disability-developmental delay-contractures syndrome" EXACT [Orphanet:3454] -synonym: "MCS" EXACT DEPRECATED [DOID:0060815, MONDO:Lexical, OMIM:309605] -synonym: "mental retardation, X-linked, syndromic 4" EXACT DEPRECATED [DOID:0060815, OMIM:309605] -synonym: "mental retardation, X-linked, with congenital contractures and Low fingertip arches" EXACT DEPRECATED [OMIM:309605] -synonym: "mental retardation, X-linked, with congenital contractures and low fingertip arches" EXACT DEPRECATED [DOID:0060815] -synonym: "Miles-Carpenter syndrome" EXACT [MONDO:0010666] -synonym: "Miles-CARPENTER X-linked mental retardation syndrome" EXACT DEPRECATED [MONDO:Lexical, OMIM:309605] +synonym: "MCS" EXACT DEPRECATED [DOID:0060815, MONDO:Lexical] +synonym: "mental retardation, X-linked, syndromic 4" EXACT DEPRECATED [DOID:0060815, OMIM:314580] +synonym: "mental retardation, X-linked, with congenital contractures and Low fingertip arches" EXACT DEPRECATED [DOID:0060815, OMIM:314580] +synonym: "mental retardation, X-linked, with congenital contractures and low fingertip arches" EXACT DEPRECATED [DOID:0060815, OMIM:314580] +synonym: "Miles-Carpenter syndrome" EXACT [DOID:0060815, MONDO:0010666] +synonym: "Miles-CARPENTER X-linked mental retardation syndrome" EXACT DEPRECATED [MONDO:Lexical, OMIM:314580] synonym: "MRXS4" EXACT ABBREVIATION [DOID:0060815] synonym: "Wieacker syndrome" EXACT [OMIM:314580] synonym: "Wieacker Wolff syndrome" EXACT [GARD:0007890] synonym: "Wieacker-Wolff syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:314580, Orphanet:3454] synonym: "Wieacker-Wolff syndrome, X-linked" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "Wieacker-Wolff syndrome, X-linked recessive" EXACT [OMIM:314580, OMIM:genemap2] +synonym: "Wieacker-Wolff syndrome, X-linked recessive" EXACT [] synonym: "WRWF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:314580] synonym: "WRWFXLR" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] -synonym: "X-linked intellectual disability, Miles-Carpenter type" EXACT [DOID:0060815] +synonym: "X-linked intellectual disability, Miles-Carpenter type" EXACT [DOID:0060815, Orphanet:85283] synonym: "ZC4H2-Associated Rare Disorders (ZARD)" EXACT [NORD:91159] xref: DOID:0060815 {source="MONDO:equivalentTo"} xref: GARD:7890 {source="MONDO:GARD"} @@ -240983,7 +241022,7 @@ synonym: "cervico-oculo-acoustic dysplasia" RELATED [GARD:0005569] synonym: "cervico-oculo-acoustic syndrome" RELATED [GARD:0005569] synonym: "Cervicooculoacoustic syndrome" EXACT [OMIM:314600, Orphanet:3456] synonym: "COA syndrome" RELATED [GARD:0005569] -synonym: "Wildervanck syndrome" EXACT [OMIM:314600] +synonym: "Wildervanck syndrome" EXACT [OMIM:314600, Orphanet:3456] xref: GARD:5569 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3456/attributed", source="Orphanet:3456/ntbt", source="Orphanet:3456"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -241008,7 +241047,7 @@ id: MONDO:0010760 name: XH antigen comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0009826 PA polymorphism of alpha-2-globulin' subset: obsoletion_candidate -synonym: "XH antigen" EXACT [OMIM:314800] +synonym: "XH antigen" EXACT [] xref: MEDGEN:854528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C009691 {source="MONDO:equivalentTo"} xref: OMIM:314800 {source="MONDO:equivalentTo"} @@ -241025,8 +241064,8 @@ subset: gard_rare {source="GARD:15310", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "retinitis pigmentosa, Y-linked" EXACT [MONDO:Lexical, MONDO:patterns/y_linked, OMIM:400004] -synonym: "retinitis pigmentosa, y-linked, y-linked" EXACT [OMIM:400004, OMIM:genemap2] -synonym: "RPY" EXACT ABBREVIATION [DOID:0110418, MONDO:Lexical, OMIM:400004] +synonym: "retinitis pigmentosa, y-linked, y-linked" EXACT [] +synonym: "RPY" EXACT ABBREVIATION [MONDO:Lexical, OMIM:400004] synonym: "Y-linked retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110418 {source="MONDO:equivalentTo"} xref: GARD:15310 {source="MONDO:GARD"} @@ -241047,7 +241086,7 @@ id: MONDO:0010762 name: lymphoma, Hodgkin, Y-linked pseudoautosomal subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Hodgkin disease, Y-linked Pseudoautosomal" RELATED [OMIM:400021] +synonym: "Hodgkin disease, Y-linked Pseudoautosomal" RELATED [] synonym: "lymphoma, Hodgkin, Y-linked pseudoautosomal" EXACT [OMIM:400021] xref: MEDGEN:333246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564034 {source="MONDO:equivalentTo"} @@ -241062,15 +241101,15 @@ name: spermatogenic failure, Y-linked, 1 subset: gard_rare {source="GARD:18503", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hypospermatogenesis" RELATED [OMIM:400042] -synonym: "incomplete Sertoli cell-only syndrome" RELATED [OMIM:400042] -synonym: "Sertoli cell-only syndrome, type 1" RELATED [OMIM:400042] -synonym: "Sertoli cell-only syndrome, type 2" RELATED [OMIM:400042] -synonym: "Sertoli cell-only syndrome, Y-linked" RELATED [OMIM:400042] +synonym: "hypospermatogenesis" RELATED [] +synonym: "incomplete Sertoli cell-only syndrome" RELATED [] +synonym: "Sertoli cell-only syndrome, type 1" RELATED [] +synonym: "Sertoli cell-only syndrome, type 2" RELATED [] +synonym: "Sertoli cell-only syndrome, Y-linked" RELATED [] synonym: "spermatogenic failure, Y-linked, 1" EXACT [MONDO:Lexical, OMIM:400042] -synonym: "spermatogenic failure, Y-linked, 1, Y-linked" EXACT [OMIM:400042, OMIM:genemap2] -synonym: "spermatogenic failure, Y-linked, type 1" EXACT [MONDORULE:1, OMIM:400042] -synonym: "SPGFY1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:400042] +synonym: "spermatogenic failure, Y-linked, 1, Y-linked" EXACT [] +synonym: "spermatogenic failure, Y-linked, type 1" EXACT [MONDORULE:1] +synonym: "SPGFY1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070186 {source="MONDO:equivalentTo"} xref: GARD:18503 {source="MONDO:GARD"} xref: MEDGEN:1634798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -241087,9 +241126,9 @@ name: hearing loss, Y-linked 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, Y-linked 1" NARROW [MONDO:Lexical, OMIM:400043] -synonym: "deafness, y-linked 1, y-linked" NARROW [OMIM:400043, OMIM:genemap2] -synonym: "DFNY1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:400043] +synonym: "deafness, Y-linked 1" NARROW [MONDO:Lexical] +synonym: "deafness, y-linked 1, y-linked" NARROW [] +synonym: "DFNY1" EXACT ABBREVIATION [DOID:0111759, MONDO:Lexical, OMIM:400043] xref: DOID:0111759 {source="MONDO:equivalentTo"} xref: MEDGEN:854748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:400043 {source="MONDO:equivalentTo"} @@ -241112,20 +241151,20 @@ subset: orphanet_rare {source="Orphanet:242"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "46 XY gonadal dysgenesis" EXACT [MONDO:0001968] +synonym: "46 XY gonadal dysgenesis" EXACT [DOID:14448, MONDO:0001968] synonym: "46, XY CGD" EXACT [GARD:0005068] synonym: "46, XY complete gonadal dysgenesis" EXACT [GARD:0005068] synonym: "46, XY pure gonadal dysgenesis" EXACT [GARD:0005068] synonym: "46,XY CGD" EXACT [Orphanet:242] synonym: "46,XY gonadal dysgenesis" EXACT [NCIT:C120198] synonym: "46,XY pure gonadal dysgenesis" EXACT [Orphanet:242] -synonym: "46,XY SEX reversal" EXACT [DOID:14448] +synonym: "46,XY SEX reversal" EXACT [DOID:14448, OMIMPS:400044] synonym: "gonadal dysgenesis, XY female type" RELATED [GARD:0005068] synonym: "pure gonadal dysgenesis 46,XY" EXACT [DOID:14448] -synonym: "sex-reversing locus on X" RELATED [OMIM:400044] -synonym: "sex-reversing locus on X, formerly" RELATED [OMIM:400044] -synonym: "Swyer syndrome" EXACT [DOID:14448, NORD:1750, Orphanet:242] -synonym: "testis-determining Factor, X-chromosomal" RELATED [OMIM:400044] +synonym: "sex-reversing locus on X" RELATED [] +synonym: "sex-reversing locus on X, formerly" RELATED [] +synonym: "Swyer syndrome" EXACT [DOID:14448, NCIT:C120198, NORD:1750, Orphanet:242] +synonym: "testis-determining Factor, X-chromosomal" RELATED [] xref: DOID:14448 {source="MONDO:equivalentTo"} xref: GARD:5068 {source="MONDO:GARD"} xref: ICD10CM:Q99.1 {source="Orphanet:242/e", source="Orphanet:242/inclusion", source="Orphanet:242"} @@ -241160,17 +241199,17 @@ name: spermatogenic failure, Y-linked, 2 subset: gard_rare {source="GARD:18504", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Azf regions" RELATED [OMIM:415000] -synonym: "azoospermia Factor regions" RELATED [OMIM:415000] -synonym: "azoospermia, nonobstructive, Y-linked" RELATED [OMIM:415000] -synonym: "oligospermia, nonobstructive, Y-linked" RELATED [OMIM:415000] -synonym: "oligozoospermia, nonobstructive, Y-linked" RELATED [OMIM:415000] -synonym: "spermatogenic arrest, Y-linked" RELATED [OMIM:415000] -synonym: "spermatogenic failure, nonobstructive, Y-linked" RELATED [OMIM:415000] +synonym: "Azf regions" RELATED [] +synonym: "azoospermia Factor regions" RELATED [] +synonym: "azoospermia, nonobstructive, Y-linked" RELATED [] +synonym: "oligospermia, nonobstructive, Y-linked" RELATED [] +synonym: "oligozoospermia, nonobstructive, Y-linked" RELATED [] +synonym: "spermatogenic arrest, Y-linked" RELATED [] +synonym: "spermatogenic failure, nonobstructive, Y-linked" RELATED [] synonym: "spermatogenic failure, Y-linked, 2" EXACT [MONDO:Lexical, OMIM:415000] -synonym: "spermatogenic failure, Y-linked, 2, Y-linked" EXACT [OMIM:415000, OMIM:genemap2] -synonym: "spermatogenic failure, Y-linked, type 2" EXACT [MONDORULE:1, OMIM:415000] -synonym: "SPGFY2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:415000] +synonym: "spermatogenic failure, Y-linked, 2, Y-linked" EXACT [] +synonym: "spermatogenic failure, Y-linked, type 2" EXACT [MONDORULE:1] +synonym: "SPGFY2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070187 {source="MONDO:equivalentTo"} xref: GARD:18504 {source="MONDO:GARD"} xref: MEDGEN:326394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -241188,7 +241227,7 @@ id: MONDO:0010768 name: gonadoblastoma def: "A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype." [NCIT:C3754] synonym: "gonad blastoma" EXACT [MONDO:patterns/location] -synonym: "gonadoblastoma" EXACT [NCIT:C3754] +synonym: "gonadoblastoma" EXACT [DOID:3301, NCIT:C3754] xref: DOID:3301 {source="MONDO:equivalentTo"} xref: ICD10CM:D39.1 {source="Orphanet:206484/ntbt", source="Orphanet:206484"} xref: ICDO:9073/1 {source="NCIT:C3754"} @@ -241210,8 +241249,8 @@ intersection_of: disease_has_location UBERON:0000991 ! gonad id: MONDO:0010769 name: hairy ears, Y-linked synonym: "hairy ears, Y-linked" EXACT [OMIM:425500] -synonym: "hairy ears, Y-linked, Y-linked" EXACT [OMIM:425500, OMIM:genemap2] -synonym: "hypertrichosis pinnae auris, Y-linked" RELATED [OMIM:425500] +synonym: "hairy ears, Y-linked, Y-linked" EXACT [] +synonym: "hypertrichosis pinnae auris, Y-linked" RELATED [] xref: MEDGEN:374123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564029 {source="MONDO:equivalentTo"} xref: OMIM:425500 {source="MONDO:equivalentTo"} @@ -241222,7 +241261,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010770 name: ubiquitin-activating enzyme, Y-linked -synonym: "Ube1Y" RELATED [OMIM:489000] +synonym: "Ube1Y" RELATED [] synonym: "ubiquitin-activating enzyme, Y-linked" EXACT [OMIM:489000] xref: MEDGEN:326389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:489000 {source="MONDO:equivalentTo"} @@ -241240,20 +241279,20 @@ subset: orphanet_rare {source="Orphanet:137675"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Arachnocytosis of the myocardium" EXACT [NCIT:C45745] -synonym: "cardiomyopathy, focal Lipid" RELATED [OMIM:500000] -synonym: "cardiomyopathy, infantile histiocytoid" RELATED [OMIM:500000] -synonym: "cardiomyopathy, infantile xanthomatous" RELATED [OMIM:500000] -synonym: "cardiomyopathy, oncocytic" RELATED [OMIM:500000] +synonym: "cardiomyopathy, focal Lipid" RELATED [] +synonym: "cardiomyopathy, infantile histiocytoid" RELATED [] +synonym: "cardiomyopathy, infantile xanthomatous" RELATED [] +synonym: "cardiomyopathy, oncocytic" RELATED [] synonym: "congenital cardiomyopathy" EXACT [NCIT:C45745] -synonym: "foamy myocardial transformation of infancy" EXACT [Orphanet:137675] +synonym: "foamy myocardial transformation of infancy" EXACT [OMIM:500000, Orphanet:137675] synonym: "focal lipid cardiomyopathy" RELATED [GARD:0009511] -synonym: "histiocytoid cardiomyopathy" EXACT [GARD:0009511] +synonym: "histiocytoid cardiomyopathy" EXACT [GARD:0009511, icd11.foundation:1870618141, NCIT:C45745, Orphanet:137675] synonym: "infantile cardiomyopathy with histiocytoid change" EXACT [Orphanet:137675] synonym: "infantile histiocytoid cardiomyopathy" RELATED [GARD:0009511] -synonym: "infantile xanthomatous cardiomyopathy" EXACT [GARD:0009511, Orphanet:137675] +synonym: "infantile xanthomatous cardiomyopathy" EXACT [GARD:0009511, icd11.foundation:1870618141, NCIT:C45745, Orphanet:137675] synonym: "isolated Cardiac lipidosis" EXACT [NCIT:C45745] synonym: "myocardial hamartoma" EXACT [NCIT:C45745] -synonym: "oncocytic cardiomyopathy" EXACT [GARD:0009511, Orphanet:137675] +synonym: "oncocytic cardiomyopathy" EXACT [GARD:0009511, icd11.foundation:1870618141, NCIT:C45745, Orphanet:137675] synonym: "Purkinje cell hamartoma" EXACT [NCIT:C45745] xref: DOID:0080198 {source="MONDO:equivalentTo"} xref: GARD:9511 {source="MONDO:GARD"} @@ -241278,14 +241317,14 @@ subset: gard_rare {source="GARD:15311", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "dystonia familial, with visual failure and striatal lucencies" RELATED [GARD:0008476] -synonym: "dystonia, familial, with visual failure and striatal lucencies" RELATED [MESH:C536024, OMIM:500001] +synonym: "dystonia, familial, with visual failure and striatal lucencies" RELATED [MESH:C536024] synonym: "LDYT" RELATED ABBREVIATION [GARD:0008476] synonym: "Leber Hereditary optic neuropathy with dystonia" RELATED [MESH:C536024] -synonym: "Leber hereditary optic neuropathy with dystonia" RELATED [OMIM:500001] -synonym: "Leber optic atrophy and dystonia" EXACT [OMIM:500001] +synonym: "Leber hereditary optic neuropathy with dystonia" RELATED [] +synonym: "Leber optic atrophy and dystonia" EXACT [DOID:0111755, OMIM:500001] synonym: "Leber's hereditary optic neuropathy with dystonia" RELATED [GARD:0008476] synonym: "LHON and dystonia" RELATED [GARD:0008476] -synonym: "Marsden syndrome" RELATED [OMIM:500001] +synonym: "Marsden syndrome" RELATED [] xref: DOID:0111755 {source="MONDO:equivalentTo"} xref: GARD:15311 {source="MONDO:GARD"} xref: MEDGEN:333240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -241325,8 +241364,8 @@ name: striatonigral degeneration, infantile, mitochondrial subset: gard_rare {source="GARD:18315", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "bilateral striatal Necrosis, infantile, mitochondrial" RELATED [OMIM:500003] -synonym: "infantile bilateral striatal Necrosis, mitochondrial" RELATED [OMIM:500003] +synonym: "bilateral striatal Necrosis, infantile, mitochondrial" RELATED [] +synonym: "infantile bilateral striatal Necrosis, mitochondrial" RELATED [] synonym: "striatonigral degeneration, infantile, mitochondrial" EXACT [OMIM:500003] xref: GARD:18315 {source="MONDO:GARD"} xref: MEDGEN:374113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -241345,11 +241384,11 @@ comment: Editor note: check relationship to Usher 3 from ORDO subset: gard_rare {source="GARD:4684", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 21" RELATED [OMIM:500004] -synonym: "retinitis pigmentosa 21, formerly" RELATED [OMIM:500004] -synonym: "retinitis pigmentosa 8" RELATED [OMIM:500004] -synonym: "retinitis pigmentosa 8, formerly" RELATED [OMIM:500004] -synonym: "retinitis pigmentosa-deafness syndrome" EXACT [OMIM:500004] +synonym: "retinitis pigmentosa 21" RELATED [] +synonym: "retinitis pigmentosa 21, formerly" RELATED [] +synonym: "retinitis pigmentosa 8" RELATED [] +synonym: "retinitis pigmentosa 8, formerly" RELATED [] +synonym: "retinitis pigmentosa-deafness syndrome" EXACT [DOID:0110829, OMIM:500004] synonym: "RP21, formerly" RELATED [GARD:0004684] synonym: "RP8, formerly" RELATED [GARD:0004684] xref: DOID:0110829 {source="MONDO:equivalentTo"} @@ -241388,11 +241427,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010778 name: cyclic vomiting syndrome def: "A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting." [PMID:22634989, PMID:25332060] -synonym: "CVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:500007] -synonym: "Cvs-plus" RELATED [OMIM:500007] -synonym: "cyclic vomiting syndrome" EXACT [MONDO:Lexical, OMIM:500007] -synonym: "cyclic vomiting syndrome with neuromuscular disease" RELATED [OMIM:500007] -synonym: "cyclic vomiting syndrome-plus" RELATED [OMIM:500007] +synonym: "CVS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Cvs-plus" RELATED [] +synonym: "cyclic vomiting syndrome" EXACT [icd11.foundation:1434288855, MONDO:Lexical, OMIM:500007] +synonym: "cyclic vomiting syndrome with neuromuscular disease" RELATED [] +synonym: "cyclic vomiting syndrome-plus" RELATED [] xref: icd11.foundation:1434288855 {source="MONDO:equivalentTo"} xref: MEDGEN:57509 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2100258 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -241413,11 +241452,11 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:90641"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "deafness, isolated, due to mitochondrial transmission" NARROW [GARD:0001709] -synonym: "deafness, nonsyndromic sensorineural, mitochondrial" RELATED [OMIM:500008] -synonym: "isolated mitochondrial neurosensory deafness" NARROW [Orphanet:90641] -synonym: "isolated mitochondrial sensorineural deafness" NARROW [Orphanet:90641] -synonym: "mitochondrial non-syndromic neurosensory deafness" NARROW [Orphanet:90641] -synonym: "mitochondrial non-syndromic sensorineural deafness" NARROW [OMIM:500008] +synonym: "deafness, nonsyndromic sensorineural, mitochondrial" RELATED [] +synonym: "isolated mitochondrial neurosensory deafness" NARROW [] +synonym: "isolated mitochondrial sensorineural deafness" NARROW [] +synonym: "mitochondrial non-syndromic neurosensory deafness" NARROW [] +synonym: "mitochondrial non-syndromic sensorineural deafness" NARROW [] xref: DOID:0111751 {source="MONDO:equivalentTo"} xref: GARD:16792 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="Orphanet:90641", source="Orphanet:90641/attributed", source="Orphanet:90641/ntbt"} @@ -241441,14 +241480,14 @@ subset: orphanet_rare {source="Orphanet:254864"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign COX deficiency" EXACT [Orphanet:254864] -synonym: "Cox deficiency myopathy, infantile, transient" RELATED [OMIM:500009] +synonym: "Cox deficiency myopathy, infantile, transient" RELATED [] synonym: "infantile reversible cytochrome C oxidase deficiency myopathy" EXACT [Orphanet:254864] synonym: "mitochondrial myopathy with reversible complex IV deficiency" EXACT [Orphanet:254864] synonym: "mitochondrial myopathy with reversible COX deficiency" EXACT [Orphanet:254864] -synonym: "mitochondrial myopathy, infantile, transient" RELATED [MONDO:Lexical, OMIM:500009] -synonym: "mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency" RELATED [OMIM:500009] -synonym: "MMIT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:500009] -synonym: "respiratory chain deficiency, infantile, transient" RELATED [OMIM:500009] +synonym: "mitochondrial myopathy, infantile, transient" RELATED [MONDO:Lexical] +synonym: "mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency" RELATED [] +synonym: "MMIT" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "respiratory chain deficiency, infantile, transient" RELATED [] synonym: "reversible infantile cytochrome C oxidase deficiency" EXACT [Orphanet:254864] synonym: "reversible infantile respiratory chain deficiency" EXACT [Orphanet:254864] xref: GARD:17227 {source="MONDO:GARD"} @@ -241481,10 +241520,10 @@ name: myopathy, lactic acidosis, and sideroblastic anemia 3 subset: gard_rare {source="GARD:15312", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MLASA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:500011] +synonym: "MLASA3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "myopathy, lactic acidosis, and sideroblastic anaemia type 3" EXACT OMO:0003005 [] -synonym: "myopathy, lactic acidosis, and sideroblastic anemia 3" EXACT [MONDO:Lexical, OMIM:500011] -synonym: "myopathy, lactic acidosis, and sideroblastic anemia type 3" EXACT [MONDORULE:1, OMIM:500011] +synonym: "myopathy, lactic acidosis, and sideroblastic anemia 3" EXACT [DOID:0111184, MONDO:Lexical, OMIM:500011] +synonym: "myopathy, lactic acidosis, and sideroblastic anemia type 3" EXACT [MONDORULE:1] xref: DOID:0111184 {source="MONDO:equivalentTo"} xref: GARD:15312 {source="MONDO:GARD"} xref: MEDGEN:903059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -241505,8 +241544,8 @@ replaced_by: MONDO:0100295 [Term] id: MONDO:0010784 name: chloramphenicol toxicity -synonym: "anemia, chloramphenicol-induced" RELATED [OMIM:515000] -synonym: "chloramphenicol resistance" RELATED [OMIM:515000] +synonym: "anemia, chloramphenicol-induced" RELATED [] +synonym: "chloramphenicol resistance" RELATED [] synonym: "chloramphenicol toxicity" EXACT [OMIM:515000] xref: MEDGEN:374104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:515000 {source="MONDO:equivalentTo"} @@ -241522,16 +241561,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Ballinger Wallace syndrome" RELATED [GARD:0004003] -synonym: "Ballinger-Wallace syndrome" RELATED [OMIM:520000] -synonym: "diabetes and deafness, maternally inherited" RELATED [GARD:0004003, MONDO:Lexical, OMIM:520000] +synonym: "Ballinger-Wallace syndrome" RELATED [] +synonym: "diabetes and deafness, maternally inherited" RELATED [GARD:0004003, MONDO:Lexical] synonym: "diabetes mellitus type II with deafness" RELATED [GARD:0004003] -synonym: "diabetes mellitus, type II, with deafness" RELATED [OMIM:520000] -synonym: "diabetes-deafness syndrome, maternally Transmitted" RELATED [OMIM:520000] +synonym: "diabetes mellitus, type II, with deafness" RELATED [] +synonym: "diabetes-deafness syndrome, maternally Transmitted" RELATED [] synonym: "maternally inherited diabetes and deafness" RELATED [GARD:0004003] -synonym: "MIDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:520000, Orphanet:225] -synonym: "mitochondrial diabetes" EXACT [Orphanet:225] -synonym: "Niddm with deafness" RELATED [OMIM:520000] -synonym: "noninsulin-dependent diabetes mellitus with deafness" RELATED [OMIM:520000] +synonym: "MIDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:520000] +synonym: "mitochondrial diabetes" EXACT [NCIT:C131859] +synonym: "Niddm with deafness" RELATED [] +synonym: "noninsulin-dependent diabetes mellitus with deafness" RELATED [] xref: GARD:4003 {source="MONDO:GARD"} xref: ICD10CM:E13.8 {source="Orphanet:225", source="Orphanet:225/attributed", source="Orphanet:225/ntbt"} xref: ICD9:250.80 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -241556,7 +241595,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:1670"} subset: orphanet_rare {source="Orphanet:1670"} subset: rare -synonym: "diarrhea, chronic, with villous atrophy" RELATED [OMIM:520100] +synonym: "diarrhea, chronic, with villous atrophy" RELATED [] xref: GARD:16576 {source="MONDO:GARD"} xref: ICD10CM:K59.1 {source="Orphanet:1670", source="MONDO:relatedTo", source="Orphanet:1670/attributed", source="Orphanet:1670/ntbt"} xref: MEDGEN:325129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -241577,24 +241616,24 @@ subset: ordo_disorder {source="Orphanet:480"} subset: orphanet_rare {source="Orphanet:480"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chronic progressive external ophthalmoplegia with myopathy" RELATED [OMIM:530000] -synonym: "CPEO with myopathy" RELATED [OMIM:530000] +synonym: "chronic progressive external ophthalmoplegia with myopathy" RELATED [] +synonym: "CPEO with myopathy" RELATED [] synonym: "CPEO with ragged red fibers" RELATED [GARD:0006817] synonym: "CPEO with ragged red fibres" RELATED OMO:0003005 [] -synonym: "CPEO with ragged-Red fibers" RELATED [OMIM:530000] +synonym: "CPEO with ragged-Red fibers" RELATED [] synonym: "CPEO with ragged-Red fibres" RELATED OMO:0003005 [] synonym: "Kearns Sayre Syndrome" EXACT [NORD:1323] -synonym: "Kearns-Sayre syndrome" EXACT [MONDO:Lexical, OMIM:530000] -synonym: "KSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:530000] -synonym: "mitochondrial Cytopathy" RELATED [OMIM:530000] -synonym: "oculocraniosomatic syndrome" RELATED [OMIM:530000] +synonym: "Kearns-Sayre syndrome" EXACT [DOID:12934, icd11.foundation:399100745, MONDO:Lexical, NCIT:C84798, OMIM:530000, Orphanet:480] +synonym: "KSS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mitochondrial Cytopathy" RELATED [] +synonym: "oculocraniosomatic syndrome" RELATED [] synonym: "ophthalmoplegia plus syndrome" RELATED [GARD:0006817] -synonym: "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy" RELATED [OMIM:530000] +synonym: "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy" RELATED [] synonym: "ophthalmoplegia, progressive external, with ragged red fibers" RELATED [GARD:0006817] synonym: "ophthalmoplegia, progressive external, with ragged red fibres" RELATED OMO:0003005 [] -synonym: "ophthalmoplegia, progressive external, with ragged-Red fibers" RELATED [OMIM:530000] +synonym: "ophthalmoplegia, progressive external, with ragged-Red fibers" RELATED [] synonym: "ophthalmoplegia, progressive external, with ragged-Red fibres" RELATED OMO:0003005 [] -synonym: "ophthalmoplegia-plus syndrome" RELATED [OMIM:530000] +synonym: "ophthalmoplegia-plus syndrome" RELATED [] xref: DOID:12934 {source="MONDO:equivalentTo"} xref: GARD:6817 {source="MONDO:GARD"} xref: ICD10CM:H49.8 {source="Orphanet:480/inclusion", source="Orphanet:480", source="Orphanet:480/ntbt"} @@ -241637,9 +241676,9 @@ subset: ordo_disorder {source="Orphanet:104"} subset: orphanet_rare {source="Orphanet:104"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Leber Hereditary optic atrophy" EXACT [NCIT:C84808] -synonym: "Leber hereditary optic neuropathy" EXACT [OMIM:535000] -synonym: "Leber optic atrophy" EXACT [OMIM:535000, Orphanet:104] +synonym: "Leber Hereditary optic atrophy" EXACT [icd11.foundation:1018428959, NCIT:C84808] +synonym: "Leber hereditary optic neuropathy" EXACT [DOID:705, icd11.foundation:1018428959, OMIM:535000, Orphanet:104] +synonym: "Leber optic atrophy" EXACT [icd11.foundation:1018428959, OMIM:535000, Orphanet:104] synonym: "Leber's hereditary optic neuropathy" EXACT [DOID:705] synonym: "Leber's optic atrophy" EXACT [DOID:705] synonym: "Leber’s disease" RELATED [GARD:0006870] @@ -241679,12 +241718,12 @@ subset: ordo_disorder {source="Orphanet:550"} subset: orphanet_rare {source="Orphanet:550"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MELAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:540000] -synonym: "MELAS syndrome" EXACT [OMIM:540000] +synonym: "MELAS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "MELAS syndrome" EXACT [DOID:3687, ICD10CM:E88.41, NCIT:C84885, OMIM:540000] synonym: "mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes" RELATED [GARD:0007009] synonym: "mitochondrial encephalomyopathy, lactic acidosis and stroke" EXACT [NCIT:C84885] synonym: "mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes" EXACT [Orphanet:550] -synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes" EXACT [Orphanet:550] +synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes" EXACT [ICD10CM:E88.41, Orphanet:550] synonym: "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes" EXACT [DOID:3687, MONDO:Lexical, OMIM:540000] xref: DOID:3687 {source="MONDO:equivalentTo"} xref: GARD:7009 {source="MONDO:GARD"} @@ -241715,23 +241754,23 @@ subset: ordo_disorder {source="Orphanet:551"} subset: orphanet_rare {source="Orphanet:551"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fukuhara syndrome" EXACT [Orphanet:551] -synonym: "MERRF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:545000] -synonym: "MERRF syndrome" EXACT [OMIM:545000] +synonym: "Fukuhara syndrome" EXACT [DOID:310, Orphanet:551] +synonym: "MERRF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:545000, Orphanet:551] +synonym: "MERRF syndrome" EXACT [DOID:310, ICD10CM:E88.42, NCIT:C84889, OMIM:545000] synonym: "myoclonic epilepsy - ragged red fibers" EXACT [DOID:310] synonym: "myoclonic epilepsy - ragged red fibres" EXACT OMO:0003005 [] synonym: "myoclonic epilepsy associated with ragged red fibers" RELATED [GARD:0007144] synonym: "myoclonic epilepsy associated with ragged red fibres" RELATED OMO:0003005 [] -synonym: "myoclonic epilepsy associated with ragged-RED fibers" RELATED [MONDO:Lexical, OMIM:545000] +synonym: "myoclonic epilepsy associated with ragged-RED fibers" RELATED [MONDO:Lexical] synonym: "myoclonic epilepsy associated with ragged-RED fibres" RELATED OMO:0003005 [] synonym: "myoclonic epilepsy with ragged red fibers" RELATED [GARD:0007144] synonym: "myoclonic epilepsy with ragged red fibres" RELATED OMO:0003005 [] synonym: "myoclonus epilepsy and ragged red fibers" EXACT [DOID:310] synonym: "myoclonus epilepsy and ragged red fibres" EXACT OMO:0003005 [] -synonym: "myoclonus epilepsy associated with ragged-red fibers" EXACT [Orphanet:551] -synonym: "myoclonus epilepsy associated with ragged-red fibres" EXACT OMO:0003005 [] +synonym: "myoclonus epilepsy associated with ragged-red fibers" EXACT [] +synonym: "myoclonus epilepsy associated with ragged-red fibres" EXACT OMO:0003005 [Orphanet:551] synonym: "myoclonus with epilepsy and with ragged Red fibers" EXACT [DOID:310] -synonym: "myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)" EXACT [DOID:310] +synonym: "myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)" EXACT [] synonym: "myoclonus with epilepsy and with ragged Red fibres" EXACT OMO:0003005 [] synonym: "myoclonus with epilepsy and with ragged Red fibres (MERRF syndrome)" EXACT OMO:0003005 [] synonym: "myoencephalopathy ragged-red fiber disease" RELATED [GARD:0007144] @@ -241793,7 +241832,7 @@ subset: rare synonym: "lethal infantile mitochondrial disease" EXACT [Orphanet:254857] synonym: "LIMD" EXACT ABBREVIATION [Orphanet:254857] synonym: "LIMM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:551000, Orphanet:254857] -synonym: "mitochondrial myopathy, lethal, infantile" RELATED [MONDO:Lexical, OMIM:551000] +synonym: "mitochondrial myopathy, lethal, infantile" RELATED [MONDO:Lexical] xref: GARD:17226 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:254857", source="Orphanet:254857/attributed", source="Orphanet:254857/ntbt"} xref: icd11.foundation:642272262 {source="MONDO:equivalentTo"} @@ -241827,11 +241866,11 @@ subset: orphanet_rare {source="Orphanet:644"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "NARP" RELATED ABBREVIATION [GARD:0000262] -synonym: "NARP syndrome" EXACT [OMIM:551500] -synonym: "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome" EXACT [Orphanet:644] +synonym: "NARP syndrome" EXACT [DOID:0111273, OMIM:551500, Orphanet:644] +synonym: "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome" EXACT [DOID:0111273, Orphanet:644] synonym: "neuropathy ataxia retinitis pigmentosa syndrome" RELATED [GARD:0000262] -synonym: "neuropathy, ataxia, and retinitis pigmentosa" RELATED [OMIM:551500] -synonym: "neuropathy-ataxia-retinitis pigmentosa syndrome" EXACT [Orphanet:644] +synonym: "neuropathy, ataxia, and retinitis pigmentosa" RELATED [] +synonym: "neuropathy-ataxia-retinitis pigmentosa syndrome" EXACT [DOID:0111273, Orphanet:644] xref: DOID:0111273 {source="MONDO:equivalentTo"} xref: GARD:262 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:644/attributed", source="Orphanet:644/ntbt", source="Orphanet:644"} @@ -241857,7 +241896,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "oncocytic neoplasm" EXACT [NCIT:C7072] synonym: "oncocytic tumor" EXACT [NCIT:C7072] synonym: "oncocytic tumour" EXACT OMO:0003005 [] -synonym: "oncocytoma" BROAD [NCIT:C7072] +synonym: "oncocytoma" BROAD [] synonym: "oncocytoma, benign" EXACT [NCIT:C7072] xref: MEDGEN:237181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7072 {source="MONDO:equivalentTo"} @@ -241887,12 +241926,12 @@ subset: ordo_disorder {source="Orphanet:699"} subset: orphanet_rare {source="Orphanet:699"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Pearson marrow-pancreas syndrome" EXACT [DOID:0060067, OMIM:557000] +synonym: "Pearson marrow-pancreas syndrome" EXACT [DOID:0060067, NCIT:C115326, OMIM:557000, Orphanet:699] synonym: "Pearson's marrow/pancreas syndrome" RELATED [GARD:0007343] synonym: "Pearson's syndrome" RELATED [GARD:0007343] synonym: "sideroblastic Anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction" RELATED OMO:0003005 [] synonym: "sideroblastic anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" RELATED OMO:0003005 [] -synonym: "sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction" RELATED [OMIM:557000] +synonym: "sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction" RELATED [] synonym: "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)" RELATED [GARD:0007343] xref: DOID:0060067 {source="MONDO:equivalentTo"} xref: GARD:7343 {source="MONDO:GARD"} @@ -241920,7 +241959,7 @@ id: MONDO:0010798 name: proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome def: "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus." [Orphanet:3390] synonym: "proximal tubulopathy, diabetes mellitus and cerebellar ataxia" RELATED [GARD:0004532] -synonym: "renal tubulopathy, diabetes mellitus, and cerebellar ataxia" RELATED [OMIM:560000] +synonym: "renal tubulopathy, diabetes mellitus, and cerebellar ataxia" RELATED [] synonym: "renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA" RELATED [GARD:0004532] xref: ICD10CM:Q87.8 {source="Orphanet:3390", source="Orphanet:3390/attributed", source="Orphanet:3390/ntbt"} xref: MEDGEN:463309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -241939,20 +241978,20 @@ subset: ordo_etiological_subtype {source="Orphanet:168609"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "aminoglycoside-induced deafness" EXACT [OMIM:580000] +synonym: "aminoglycoside-induced deafness" EXACT [DOID:0111734] synonym: "aminoglycoside-induced hearing loss" BROAD [https://orcid.org/0000-0002-6025-0015] synonym: "deafness, aminoglycoside-induced" EXACT [OMIM:580000] -synonym: "deafness, mitochondrial, modifier of, mitochondrial" EXACT [OMIM:580000, OMIM:genemap2] +synonym: "deafness, mitochondrial, modifier of, mitochondrial" EXACT [] synonym: "deafness, streptomycin-induced" EXACT [OMIM:580000] -synonym: "mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609] -synonym: "mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609] -synonym: "mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609] -synonym: "mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609] -synonym: "mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609] -synonym: "mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609] -synonym: "mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure" EXACT [Orphanet:168609] -synonym: "mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure" BROAD [Orphanet:168609] -synonym: "streptomycin ototoxicity" EXACT [OMIM:580000] +synonym: "mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure" EXACT [] +synonym: "mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure" BROAD [] +synonym: "mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure" EXACT [] +synonym: "mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure" BROAD [] +synonym: "mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure" EXACT [] +synonym: "mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure" BROAD [] +synonym: "mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure" EXACT [] +synonym: "mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure" BROAD [] +synonym: "streptomycin ototoxicity" EXACT [DOID:0111734, OMIM:580000] xref: DOID:0111734 {source="MONDO:equivalentTo"} xref: GARD:18161 {source="MONDO:GARD"} xref: MEDGEN:374074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -241973,9 +242012,9 @@ id: MONDO:0010800 name: Wolfram syndrome, mitochondrial form subset: gard_rare {source="GARD:15313", source="MONDO:GARD"} subset: rare -synonym: "diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form" RELATED [OMIM:598500] -synonym: "Didmoad syndrome, mitochondrial form" RELATED [OMIM:598500] -synonym: "Wolfram syndrome, mitochondrial form" EXACT [OMIM:598500] +synonym: "diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form" RELATED [] +synonym: "Didmoad syndrome, mitochondrial form" RELATED [] +synonym: "Wolfram syndrome, mitochondrial form" EXACT [DOID:0080583, OMIM:598500] xref: DOID:0080583 {source="MONDO:equivalentTo"} xref: GARD:15313 {source="MONDO:GARD"} xref: MEDGEN:325511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -241996,9 +242035,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:3180"} subset: orphanet_rare {source="Orphanet:3180"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "camptodactyly with cervical platyspondyly" RELATED [OMIM:600000] +synonym: "camptodactyly with cervical platyspondyly" RELATED [] synonym: "spondylo camptodactyly syndrome" RELATED [GARD:0004972] -synonym: "spondylocamptodactyly" RELATED [OMIM:600000] +synonym: "spondylocamptodactyly" RELATED [] xref: GARD:4972 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:3180", source="Orphanet:3180/attributed", source="Orphanet:3180/ntbt"} xref: MEDGEN:325510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -242020,14 +242059,14 @@ subset: orphanet_rare {source="Orphanet:2255"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease" RELATED [GARD:0000347] -synonym: "HDCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600001] -synonym: "heart defects, congenital, and other congenital anomalies" RELATED [MONDO:Lexical, OMIM:600001] +synonym: "HDCA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "heart defects, congenital, and other congenital anomalies" RELATED [MONDO:Lexical] synonym: "hereditary pancreatic hypoplasia, diabetes mellitus and congenital heart disease" RELATED [GARD:0000347] -synonym: "pancreatic agenesis and congenital heart defects" RELATED [OMIM:600001] -synonym: "pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease" RELATED [OMIM:600001] -synonym: "pancreatic hypoplasia-diabetes-congenital heart disease syndrome" EXACT CLINGEN_LABEL [] +synonym: "pancreatic agenesis and congenital heart defects" RELATED [] +synonym: "pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease" RELATED [] +synonym: "pancreatic hypoplasia-diabetes-congenital heart disease syndrome" EXACT CLINGEN_LABEL [DOID:0111733, Orphanet:2255] synonym: "Yorifuji Okuno syndrome" RELATED [GARD:0000347] -synonym: "Yorifuji-Okuno syndrome" EXACT [Orphanet:2255] +synonym: "Yorifuji-Okuno syndrome" EXACT [DOID:0111733, Orphanet:2255] xref: DOID:0111733 {source="MONDO:equivalentTo"} xref: GARD:347 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2255/attributed", source="Orphanet:2255/ntbt", source="Orphanet:2255"} @@ -242055,10 +242094,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:79106"} subset: orphanet_rare {source="Orphanet:79106"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone modeling defect of hands and feet" RELATED [OMIM:600002] +synonym: "bone modeling defect of hands and feet" RELATED [] synonym: "bone modelling defect of hands and feet" RELATED OMO:0003005 [] -synonym: "Eiken skeletal dysplasia" RELATED [OMIM:600002] -synonym: "Eiken syndrome" EXACT [OMIM:600002] +synonym: "Eiken skeletal dysplasia" RELATED [] +synonym: "Eiken syndrome" EXACT [DOID:0111732, icd11.foundation:467339994, OMIM:600002, Orphanet:79106] xref: DOID:0111732 {source="MONDO:equivalentTo"} xref: GARD:16698 {source="MONDO:GARD"} xref: icd11.foundation:467339994 {source="MONDO:equivalentTo"} @@ -242077,9 +242116,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0010804 name: obsolete BRCATA -synonym: "BRCATA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600048] -synonym: "breast cancer, 11-22 translocation-associated" RELATED [MONDO:Lexical, OMIM:600048] -synonym: "moved to 114480" RELATED [OMIM:600048] +synonym: "BRCATA" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "breast cancer, 11-22 translocation-associated" RELATED [MONDO:Lexical] +synonym: "moved to 114480" RELATED [] xref: OMIM:600048 {source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:227535 {source="OMIM:600048"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1698" xsd:anyURI @@ -242095,13 +242134,13 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:860"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93930"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bladder exstrophy" EXACT [MONDO:ambiguous] +synonym: "bladder exstrophy" EXACT [DOID:0080174, MONDO:ambiguous, NCIT:C123207, Orphanet:93930] synonym: "bladder exstrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "bladder exstrophy and epispadias Complex" RELATED [OMIM:600057] +synonym: "bladder exstrophy and epispadias Complex" RELATED [] synonym: "Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex" EXACT [NORD:860] synonym: "classic exstrophy of the bladder" EXACT [Orphanet:93930] -synonym: "ectopia vesicae" EXACT [NCIT:C123207] -synonym: "exstrophy of bladder" RELATED [OMIM:600057] +synonym: "ectopia vesicae" EXACT [icd11.foundation:1927556258, NCIT:C123207] +synonym: "exstrophy of bladder" RELATED [] synonym: "exstrophy of the bladder" RELATED [GARD:0006398] xref: DOID:0080174 {source="MONDO:equivalentTo"} xref: GARD:6398 {source="MONDO:GARD"} @@ -242129,9 +242168,9 @@ subset: gard_rare {source="GARD:10388", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PRPF8 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 13" EXACT [MONDO:Lexical, OMIM:600059] +synonym: "retinitis pigmentosa 13" EXACT [DOID:0110403, MONDO:Lexical, OMIM:600059] synonym: "retinitis pigmentosa caused by mutation in PRPF8" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 13" EXACT [DOID:0110403, MONDORULE:2, OMIM:600059] +synonym: "retinitis pigmentosa type 13" EXACT [MONDORULE:2] synonym: "RP 13" RELATED [GARD:0010388] synonym: "RP13" EXACT ABBREVIATION [DOID:0110403, MONDO:Lexical, OMIM:600059] xref: DOID:0110403 {source="MONDO:equivalentTo"} @@ -242155,15 +242194,15 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22582", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 2" NARROW [DOID:0110477] -synonym: "autosomal recessive nonsyndromic deafness 2" NARROW [OMIM:600060] +synonym: "autosomal recessive deafness 2" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 2" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO7A" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 2" NARROW [DOID:0110477, MONDORULE:1] -synonym: "deafness, autosomal recessive 2" NARROW [MONDO:Lexical, OMIM:600060, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 2" NARROW [MONDORULE:1, OMIM:600060] -synonym: "DFNB2" NARROW ABBREVIATION [DOID:0110477, MONDO:Lexical, OMIM:600060] +synonym: "autosomal recessive nonsyndromic deafness type 2" NARROW [MONDORULE:1] +synonym: "deafness, autosomal recessive 2" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 2" NARROW [MONDORULE:1] +synonym: "DFNB2" NARROW ABBREVIATION [MONDO:Lexical] synonym: "MYO7A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "neurosensory nonsyndromic recessive deafness 2" RELATED [OMIM:600060] +synonym: "neurosensory nonsyndromic recessive deafness 2" RELATED [] xref: DOID:0110477 {source="MONDO:equivalentTo"} xref: GARD:22582 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110477"} @@ -242189,11 +242228,11 @@ subset: orphanet_rare {source="Orphanet:466"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial fatal insomnia" RELATED [GARD:0006429] -synonym: "fatal familial INSOMNIA" RELATED [OMIM:600072] -synonym: "fatal familial insomnia" EXACT [MONDO:Lexical, OMIM:600072] -synonym: "FFI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600072] +synonym: "fatal familial INSOMNIA" RELATED [] +synonym: "fatal familial insomnia" EXACT [DOID:0050433, ICD10CM:A81.83, icd11.foundation:669154658, MONDO:Lexical, NCIT:C84711, OMIM:600072, Orphanet:466] +synonym: "FFI" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Insomnia familial fatal" RELATED [GARD:0006429] -synonym: "Insomnia, fatal familial" RELATED [OMIM:600072] +synonym: "Insomnia, fatal familial" RELATED [] xref: DOID:0050433 {source="MONDO:equivalentTo"} xref: GARD:6429 {source="MONDO:GARD"} xref: ICD10CM:A81.8 {source="Orphanet:466", source="Orphanet:466/attributed", source="Orphanet:466/ntbt"} @@ -242224,9 +242263,9 @@ def: "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in subset: gard_rare {source="GARD:10141", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CML-like syndrome, familial" RELATED [OMIM:600080] +synonym: "CML-like syndrome, familial" RELATED [] synonym: "familial CML-like syndrome" EXACT [DOID:0060761] -synonym: "myelocytic leukemia-like syndrome, familial, chronic" RELATED [OMIM:600080] +synonym: "myelocytic leukemia-like syndrome, familial, chronic" RELATED [] xref: DOID:0060761 {source="MONDO:equivalentTo"} xref: GARD:10141 {source="MONDO:GARD"} xref: MEDGEN:325075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -242243,17 +242282,17 @@ def: "An autosomal recessive form of rickets caused by inactivating mutation(s) subset: gard_rare {source="GARD:18415", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "25-Hydroxyvitamin D3 deficiency, selective" RELATED [OMIM:600081] +synonym: "25-Hydroxyvitamin D3 deficiency, selective" RELATED [] synonym: "CYP2R1 vitamin D-dependent rickets, type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency" RELATED [OMIM:600081] -synonym: "rickets due to defect in vitamin D 25-hydroxylation deficiency" EXACT [OMIM:600081, OMIM:genemap2] -synonym: "VDDR1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600081] +synonym: "Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency" RELATED [] +synonym: "rickets due to defect in vitamin D 25-hydroxylation deficiency" EXACT [] +synonym: "VDDR1B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Vitam D hydroxylation-deficient rickets type 1b" EXACT [NCIT:C131074] synonym: "vitamin D 25-Hydroxylase deficiency" EXACT [NCIT:C131074] synonym: "vitamin D hydroxylation-deficient rickets type 1b" EXACT [NCIT:C131074] synonym: "vitamin D hydroxylation-deficient rickets, type 1B" EXACT [MONDO:Lexical, OMIM:600081] synonym: "vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1" EXACT [MONDO:design_pattern] -synonym: "vitamin D-dependent rickets, type 1B" RELATED [OMIM:600081] +synonym: "vitamin D-dependent rickets, type 1B" RELATED [] xref: DOID:0080887 {source="MONDO:equivalentTo"} xref: GARD:18415 {source="MONDO:GARD"} xref: MEDGEN:374020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -242279,14 +242318,14 @@ subset: otar {source="MONDO:OTAR"} synonym: "benign hyperplasia of prostate" EXACT [NCIT:C2897] synonym: "benign hyperplasia of the prostate" EXACT [NCIT:C2897] synonym: "benign prostate hyperplasia" EXACT [NCIT:C2897] -synonym: "benign prostatic hyperplasia" EXACT [MONDO:ambiguous] +synonym: "benign prostatic hyperplasia" EXACT [MONDO:ambiguous, NCIT:C2897] synonym: "benign prostatic hyperplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "benign prostatic hyperplasia - BPH" EXACT [NCIT:C2897] synonym: "benign prostatic Hypertrophy" EXACT [NCIT:C2897] synonym: "benign prostatic hypertrophy" EXACT [NCIT:C2897] -synonym: "BPH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600082] +synonym: "BPH" RELATED ABBREVIATION [MONDO:Lexical] synonym: "prostate hypertrophy" BROAD [] -synonym: "prostatic hyperplasia, benign" RELATED [MONDO:Lexical, OMIM:600082] +synonym: "prostatic hyperplasia, benign" RELATED [MONDO:Lexical] synonym: "prostatic hypertrophy" BROAD [] xref: DOID:11132 {source="EFO:0000284", source="MONDO:equivalentTo"} xref: DOID:2883 {source="EFO:0000284", source="MONDO:directSiblingOf"} @@ -242322,7 +242361,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0010813 name: pancreatic beta cell agenesis with neonatal diabetes mellitus subset: otar {source="MONDO:OTAR"} -synonym: "diabetes mellitus, insulin-dependent, neonatal" EXACT [OMIM:600089, OMIM:genemap2] +synonym: "diabetes mellitus, insulin-dependent, neonatal" EXACT [] synonym: "pancreatic beta cell agenesis with neonatal diabetes mellitus" EXACT [OMIM:600089] xref: MEDGEN:325072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538111 {source="MONDO:equivalentTo"} @@ -242343,9 +242382,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1422"} subset: orphanet_rare {source="Orphanet:1422"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT [DOID:0060644] -synonym: "chondrodysplasia-pseudohermaphroditism syndrome" EXACT [OMIM:600092, Orphanet:1422] -synonym: "Nivelon-Nivelon-Mabille syndrome" EXACT [DOID:0060644, Orphanet:1422] +synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT [DOID:0060644, Orphanet:1422] +synonym: "chondrodysplasia-pseudohermaphroditism syndrome" EXACT [DOID:0060644, OMIM:600092, Orphanet:1422] +synonym: "Nivelon-Nivelon-Mabille syndrome" EXACT [DOID:0060644, OMIM:600092, Orphanet:1422] xref: DOID:0060644 {source="MONDO:equivalentTo"} xref: GARD:16565 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:1422/attributed", source="Orphanet:1422/ntbt", source="Orphanet:1422", source="DOID:0060644"} @@ -242367,7 +242406,7 @@ id: MONDO:0010815 name: spondyloepiphyseal dysplasia tarda with characteristic facies subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "spondyloepiphyseal dysplasia tarda with characteristic facies" EXACT [OMIM:600093] +synonym: "spondyloepiphyseal dysplasia tarda with characteristic facies" EXACT [DOID:0112289, OMIM:600093] xref: DOID:0112289 {source="MONDO:equivalentTo"} xref: MEDGEN:325071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564003 {source="MONDO:equivalentTo"} @@ -242385,17 +242424,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:3010"} subset: orphanet_rare {source="Orphanet:3010"} subset: rare -synonym: "Dysharmonic skeletal maturation - muscular fiber disproportion" EXACT [DOID:0050740] -synonym: "Dysharmonic skeletal maturation - muscular fibre disproportion" EXACT OMO:0003005 [] +synonym: "Dysharmonic skeletal maturation - muscular fiber disproportion" EXACT [] +synonym: "Dysharmonic skeletal maturation - muscular fibre disproportion" EXACT OMO:0003005 [DOID:0050740] synonym: "Dysharmonic skeletal maturation muscular fiber disproportion" RELATED [GARD:0000371] synonym: "Dysharmonic skeletal maturation muscular fibre disproportion" RELATED OMO:0003005 [] synonym: "Dysharmonic skeletal maturation-muscular fiber disproportion syndrome" EXACT [Orphanet:3010] synonym: "Dysharmonic skeletal maturation-muscular fibre disproportion syndrome" EXACT OMO:0003005 [] synonym: "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fiber type disproportion" RELATED [GARD:0000371] synonym: "hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion" RELATED OMO:0003005 [] -synonym: "PUERTO RICAN infant hypotonia syndrome" RELATED [OMIM:600096] +synonym: "PUERTO RICAN infant hypotonia syndrome" RELATED [] synonym: "Puertorican infant hypotonia syndrome" RELATED [GARD:0000371] -synonym: "Qazi-Markouizos syndrome" EXACT [DOID:0050740] +synonym: "Qazi-Markouizos syndrome" EXACT [DOID:0050740, Orphanet:3010] xref: DOID:0050740 {source="MONDO:equivalentTo"} xref: GARD:371 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3010/attributed", source="Orphanet:3010/ntbt", source="Orphanet:3010"} @@ -242420,14 +242459,14 @@ subset: gard_rare {source="GARD:18099", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant deafness 2A" NARROW [DOID:0110558] -synonym: "autosomal dominant nonsyndromic deafness 2A" NARROW [OMIM:600101] +synonym: "autosomal dominant deafness 2A" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 2A" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 2A" NARROW [DOID:0110558, MONDORULE:4] -synonym: "deafness, autosomal dominant 2A" NARROW [MONDO:Lexical, OMIM:600101] -synonym: "deafness, autosomal dominant 2a" NARROW [OMIM:600101, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 2A" NARROW [MONDORULE:4, OMIM:600101] -synonym: "DFNA2A" NARROW ABBREVIATION [DOID:0110558, MONDO:Lexical, OMIM:600101] +synonym: "autosomal dominant nonsyndromic deafness type 2A" NARROW [MONDORULE:4] +synonym: "deafness, autosomal dominant 2A" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant 2a" NARROW [] +synonym: "deafness, autosomal dominant type 2A" NARROW [MONDORULE:4] +synonym: "DFNA2A" NARROW ABBREVIATION [MONDO:Lexical] synonym: "KCNQ4 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110558 {source="MONDO:equivalentTo"} xref: GARD:18099 {source="MONDO:GARD"} @@ -242451,14 +242490,14 @@ subset: gard_rare {source="GARD:10376", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CRB1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 12" EXACT [MONDO:Lexical, OMIM:600105] +synonym: "retinitis pigmentosa 12" EXACT [DOID:0110358, MONDO:Lexical, OMIM:600105] synonym: "retinitis pigmentosa caused by mutation in CRB1" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 12" EXACT [DOID:0110358, MONDORULE:2, OMIM:600105] -synonym: "retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium" RELATED [OMIM:600105] -synonym: "retinitis pigmentosa-12" EXACT [OMIM:600105, OMIM:genemap2] +synonym: "retinitis pigmentosa type 12" EXACT [MONDORULE:2] +synonym: "retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium" RELATED [] +synonym: "retinitis pigmentosa-12" EXACT [] synonym: "RP 12" RELATED [GARD:0010376] -synonym: "RP with or without Pprpe" RELATED [OMIM:600105] -synonym: "RP with or without preserved Paraarteriole retinal pigment epithelium" RELATED [OMIM:600105] +synonym: "RP with or without Pprpe" RELATED [] +synonym: "RP with or without preserved Paraarteriole retinal pigment epithelium" RELATED [] synonym: "RP12" EXACT ABBREVIATION [DOID:0110358, MONDO:Lexical, OMIM:600105] xref: DOID:0110358 {source="MONDO:equivalentTo"} xref: GARD:10376 {source="MONDO:GARD"} @@ -242481,11 +242520,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15314", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "macular dystrophy with flecks, type 3" RELATED [OMIM:600110] +synonym: "macular dystrophy with flecks, type 3" RELATED [] synonym: "Stargardt disease 3" EXACT [MONDO:Lexical, OMIM:600110] -synonym: "Stargardt disease type 3" EXACT [MONDORULE:1, OMIM:600110] -synonym: "Stargardt-like macular dystrophy, autosomal dominant" RELATED [OMIM:600110] -synonym: "STGD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600110] +synonym: "Stargardt disease type 3" EXACT [MONDORULE:1] +synonym: "Stargardt-like macular dystrophy, autosomal dominant" RELATED [] +synonym: "STGD3" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15314 {source="MONDO:GARD"} xref: MEDGEN:333146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535805 {source="MONDO:equivalentTo"} @@ -242506,19 +242545,19 @@ def: "A group of disorders which feature impaired motor control characterized by subset: gard_rare {source="GARD:9642", source="MONDO:GARD"} subset: rare synonym: "autosomal recessive juvenile Parkinson disease" RELATED [GARD:0009642] -synonym: "autosomal recessive juvenile Parkinson disease 2" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive juvenile Parkinson disease type 2" EXACT [DOID:0060368, MONDORULE:1] -synonym: "autosomal recessive juvenile Parkinson's disease 2" RELATED [DOID:0060368] +synonym: "autosomal recessive juvenile Parkinson disease 2" EXACT CLINGEN_LABEL [DOID:0060368] +synonym: "autosomal recessive juvenile Parkinson disease type 2" EXACT [MONDORULE:1] +synonym: "autosomal recessive juvenile Parkinson's disease 2" RELATED [] synonym: "JP" RELATED ABBREVIATION [GARD:0009642] synonym: "juvenile parkinsonism" RELATED [GARD:0009642] -synonym: "PARK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600116] +synonym: "PARK2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Parkinson disease 2" RELATED [GARD:0009642] -synonym: "Parkinson disease 2, autosomal recessive juvenile" RELATED [MONDO:Lexical, OMIM:600116] +synonym: "Parkinson disease 2, autosomal recessive juvenile" RELATED [MONDO:Lexical] synonym: "Parkinson disease autosomal recessive, early onset" RELATED [GARD:0009642] -synonym: "Parkinson disease, juvenile, autosomal recessive" RELATED [OMIM:600116] -synonym: "Parkinson disease, juvenile, type 2" EXACT [OMIM:600116, OMIM:genemap2] +synonym: "Parkinson disease, juvenile, autosomal recessive" RELATED [] +synonym: "Parkinson disease, juvenile, type 2" EXACT [] synonym: "Parkinsonism, early onset, with diurnal fluctuation" RELATED [GARD:0009642] -synonym: "Parkinsonism, early-onset, with diurnal fluctuation" RELATED [OMIM:600116] +synonym: "Parkinsonism, early-onset, with diurnal fluctuation" RELATED [] synonym: "PDJ" RELATED ABBREVIATION [GARD:0009642] synonym: "PRKN young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "young-onset Parkinson disease caused by mutation in PRKN" EXACT [MONDO:design_pattern] @@ -242549,7 +242588,7 @@ subset: rare synonym: "Billard-Toutain-Maheut syndrome" EXACT [Orphanet:1799] synonym: "developmental dysphasia familial" RELATED [GARD:0001823] synonym: "developmental language disorder" RELATED [GARD:0001823] -synonym: "dysphasia, familial developmental" RELATED [OMIM:600117] +synonym: "dysphasia, familial developmental" RELATED [] synonym: "FOXP2-associated dysphasia" EXACT [Orphanet:1799] synonym: "specific language impairment" RELATED [GARD:0001823] xref: GARD:1823 {source="MONDO:GARD"} @@ -242571,14 +242610,14 @@ def: "Any Warburg micro syndrome in which the cause of the disease is a mutation subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "micro syndrome" RELATED [OMIM:600118] +synonym: "micro syndrome" RELATED [] synonym: "micro syndrome 1" EXACT [DOID:0110716] synonym: "RAB3GAP1 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WARBM1" EXACT ABBREVIATION [DOID:0110716, MONDO:Lexical, OMIM:600118] -synonym: "WARBURG micro syndrome 1" RELATED [OMIM:600118] -synonym: "Warburg micro syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:600118] +synonym: "WARBURG micro syndrome 1" RELATED [] +synonym: "Warburg micro syndrome 1" EXACT CLINGEN_LABEL [DOID:0110716, MONDO:Lexical, OMIM:600118] synonym: "Warburg micro syndrome caused by mutation in RAB3GAP1" EXACT [MONDO:design_pattern] -synonym: "Warburg micro syndrome type 1" EXACT [DOID:0110716, MONDORULE:1, OMIM:600118] +synonym: "Warburg micro syndrome type 1" EXACT [MONDORULE:1] xref: DOID:0110716 {source="MONDO:equivalentTo"} xref: ICD10CM:Q87.0 {source="DOID:0110716"} xref: MEDGEN:333142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -242601,14 +242640,14 @@ subset: ordo_etiological_subtype {source="Orphanet:309803"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309803"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AGPS deficiency" BROAD [DOID:0110853] +synonym: "AGPS deficiency" BROAD [] synonym: "AGPS rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "alkyldihydroxyacetonephosphate synthase deficiency" BROAD [DOID:0110853, OMIM:600121] -synonym: "alkylglycerone-phosphate synthase deficiency" BROAD [DOID:0110853, GARD:0009682, OMIM:600121] +synonym: "alkyldihydroxyacetonephosphate synthase deficiency" BROAD [] +synonym: "alkylglycerone-phosphate synthase deficiency" BROAD [GARD:0009682] synonym: "RCDP3" EXACT ABBREVIATION [DOID:0110853, MONDO:Lexical, OMIM:600121] synonym: "rhizomelic chondrodysplasia punctata caused by mutation in AGPS" EXACT [MONDO:design_pattern] -synonym: "rhizomelic chondrodysplasia punctata type 3" EXACT CLINGEN_LABEL [OMIM:600121] -synonym: "rhizomelic chondrodysplasia punctata, type 3" RELATED [GARD:0009682, MONDO:Lexical, OMIM:600121] +synonym: "rhizomelic chondrodysplasia punctata type 3" EXACT CLINGEN_LABEL [DOID:0110853, icd11.foundation:110878063, Orphanet:309803] +synonym: "rhizomelic chondrodysplasia punctata, type 3" RELATED [GARD:0009682, MONDO:Lexical] xref: DOID:0110853 {source="MONDO:equivalentTo"} xref: GARD:9682 {source="MONDO:GARD"} xref: ICD10CM:Q77.3 {source="DOID:0110853", source="Orphanet:309803", source="Orphanet:309803/attributed", source="Orphanet:309803/ntbt"} @@ -242642,11 +242681,11 @@ subset: orphanet_rare {source="Orphanet:2983"} subset: rare synonym: "disorder of sex development intellectual disability" RELATED [GARD:0004550] synonym: "Male pseudohermaphroditism intellectual disability syndrome, Verloes type" RELATED [GARD:0004550] -synonym: "male pseudohermaphroditism/intellectual disability syndrome, Verloes type" RELATED [OMIM:600122] -synonym: "male pseudohermaphroditism/mental retardation syndrome, Verloes type" RELATED DEPRECATED [OMIM:600122] -synonym: "pseudohermaphroditism-intellectual disability syndrome" EXACT [Orphanet:2983] +synonym: "male pseudohermaphroditism/intellectual disability syndrome, Verloes type" RELATED [] +synonym: "male pseudohermaphroditism/mental retardation syndrome, Verloes type" RELATED DEPRECATED [] +synonym: "pseudohermaphroditism-intellectual disability syndrome" EXACT [] synonym: "Verloes Gillerot Fryns syndrome" RELATED [GARD:0004550] -synonym: "Verloes syndrome" RELATED [OMIM:600122] +synonym: "Verloes syndrome" RELATED [] synonym: "Verloes-Gillerot-Fryns syndrome" EXACT [Orphanet:2983] xref: GARD:4550 {source="MONDO:GARD"} xref: ICD10CM:Q56.3 {source="Orphanet:2983/attributed", source="Orphanet:2983/ntbt", source="Orphanet:2983"} @@ -242672,7 +242711,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1352"} subset: orphanet_rare {source="Orphanet:1352"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atrioventricular septal defect with blepharophimosis and anal and radial defects" RELATED [OMIM:600123] +synonym: "atrioventricular septal defect with blepharophimosis and anal and radial defects" RELATED [] synonym: "Houlston-Ironton-Temple syndrome" EXACT [Orphanet:1352] xref: GARD:2742 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1352", source="Orphanet:1352/attributed", source="Orphanet:1352/ntbt"} @@ -242701,8 +242740,8 @@ subset: predisposition subset: rare synonym: "absence seizure" RELATED [DOID:1825] synonym: "early onset absence epilepsy" EXACT [DOID:0050708] -synonym: "petit mal seizure" RELATED [DOID:1825] -synonym: "pyknolepsy" EXACT [DOID:1825, Orphanet:64280] +synonym: "petit mal seizure" RELATED [] +synonym: "pyknolepsy" EXACT [DOID:1825, icd11.foundation:726403046, Orphanet:64280] xref: DOID:0050708 {source="MONDO:equivalentTo"} xref: DOID:1825 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:16667 {source="MONDO:GARD"} @@ -242744,9 +242783,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:10385", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 14" EXACT [MONDO:Lexical, OMIM:600132] +synonym: "retinitis pigmentosa 14" EXACT [DOID:0110381, MONDO:Lexical, OMIM:600132] synonym: "retinitis pigmentosa caused by mutation in TULP1" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 14" EXACT [DOID:0110381, MONDORULE:2, OMIM:600132] +synonym: "retinitis pigmentosa type 14" EXACT [MONDORULE:2] synonym: "RP 14" RELATED [GARD:0010385] synonym: "RP14" EXACT ABBREVIATION [DOID:0110381, MONDO:Lexical, OMIM:600132] synonym: "TULP1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -242770,9 +242809,9 @@ subset: gard_rare {source="GARD:10383", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PRPF31 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 11" EXACT [MONDO:Lexical, OMIM:600138] +synonym: "retinitis pigmentosa 11" EXACT [DOID:0110408, MONDO:Lexical, OMIM:600138] synonym: "retinitis pigmentosa caused by mutation in PRPF31" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 11" EXACT [DOID:0110408, MONDORULE:2, OMIM:600138] +synonym: "retinitis pigmentosa type 11" EXACT [MONDORULE:2] synonym: "RP 11" RELATED [GARD:0010383] synonym: "RP11" EXACT ABBREVIATION [DOID:0110408, MONDO:Lexical, OMIM:600138] xref: DOID:0110408 {source="MONDO:equivalentTo"} @@ -242801,13 +242840,13 @@ subset: ordo_disorder {source="Orphanet:199354"} subset: orphanet_rare {source="Orphanet:199354"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CARASIL" EXACT ABBREVIATION [MONDO:Lexical, NORD:888, OMIM:600142] -synonym: "cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical, OMIM:600142] -synonym: "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT [Orphanet:199354] +synonym: "CARASIL" EXACT ABBREVIATION [MONDO:Lexical, NORD:888, OMIM:600142, Orphanet:199354] +synonym: "cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy" RELATED [MONDO:Lexical] +synonym: "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT [] synonym: "cerebrovascular disease with thin skin, alopecia, and disc disease" RELATED OMO:0003005 [] -synonym: "cerebrovascular disease with thin skin, alopecia, and disk disease" RELATED [OMIM:600142] +synonym: "cerebrovascular disease with thin skin, alopecia, and disk disease" RELATED [] synonym: "Maeda syndrome" EXACT [OMIM:600142, Orphanet:199354] -synonym: "subcortical vascular encephalopathy, progressive" RELATED [OMIM:600142] +synonym: "subcortical vascular encephalopathy, progressive" RELATED [] xref: GARD:10424 {source="MONDO:GARD"} xref: ICD10CM:F01.1 {source="Orphanet:199354", source="Orphanet:199354/attributed", source="Orphanet:199354/ntbt"} xref: icd11.foundation:984450655 {source="Orphanet:199354", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -242836,14 +242875,14 @@ subset: ordo_etiological_subtype {source="Orphanet:228354"} subset: orphanet_rare {source="Orphanet:228354"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ceroid lipofuscinosis, neuronal, 8" RELATED [MONDO:Lexical, OMIM:600143] -synonym: "ceroid lipofuscinosis, neuronal, type 8" EXACT [MONDORULE:1, OMIM:600143] +synonym: "ceroid lipofuscinosis, neuronal, 8" RELATED [MONDO:Lexical] +synonym: "ceroid lipofuscinosis, neuronal, type 8" EXACT [MONDORULE:1] synonym: "CLN8" EXACT ABBREVIATION [DOID:0110723, MONDO:Lexical, OMIM:600143] -synonym: "CLN8 disease" RELATED [Orphanet:228354] +synonym: "CLN8 disease" RELATED [] synonym: "CLN8 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "neuronal ceroid lipofuscinosis 8" EXACT CLINGEN_LABEL [] +synonym: "neuronal ceroid lipofuscinosis 8" EXACT CLINGEN_LABEL [DOID:0110723] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN8" EXACT [MONDO:design_pattern] -synonym: "neuronal ceroid lipofuscinosis type 8" EXACT [DOID:0110723, MONDORULE:1] +synonym: "neuronal ceroid lipofuscinosis type 8" EXACT [MONDORULE:1] xref: DOID:0110723 {source="MONDO:equivalentTo"} xref: GARD:17152 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="DOID:0110723", source="Orphanet:228354/attributed", source="Orphanet:228354/ntbt", source="Orphanet:228354"} @@ -242874,16 +242913,16 @@ subset: orphanet_rare {source="Orphanet:1768"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "caudal dysgenesis familial type" RELATED [GARD:0000215] -synonym: "caudal dysgenesis syndrome" RELATED [GARD:0004751, OMIM:600145] +synonym: "caudal dysgenesis syndrome" RELATED [GARD:0004751] synonym: "caudal regression" EXACT [NCIT:C99054] -synonym: "caudal regression syndrome" RELATED [OMIM:600145] -synonym: "familial caudal dysgenesis" EXACT [GARD:0004751] +synonym: "caudal regression syndrome" RELATED [] +synonym: "familial caudal dysgenesis" EXACT [GARD:0004751, Orphanet:1768] synonym: "Rudd-Klimek syndrome" EXACT [GARD:0000215, GARD:0004751, Orphanet:1768] -synonym: "sacral agenesis" RELATED [OMIM:600145] -synonym: "sacral defect with anterior meningocele" RELATED [OMIM:600145] +synonym: "sacral agenesis" RELATED [] +synonym: "sacral defect with anterior meningocele" RELATED [] synonym: "SDAM" RELATED ABBREVIATION [GARD:0004751] -synonym: "Sdam" RELATED [OMIM:600145] -synonym: "sirenomelia" RELATED [OMIM:600145] +synonym: "Sdam" RELATED [] +synonym: "sirenomelia" RELATED [] xref: GARD:215 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1768/attributed", source="Orphanet:1768/ntbt", source="Orphanet:1768"} xref: MEDGEN:418973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -242904,8 +242943,8 @@ name: Bardet-Biedl syndrome 3 subset: gard_rare {source="GARD:822", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:600151] -synonym: "Bardet-Biedl syndrome type 3" EXACT [DOID:0110125, MONDORULE:1, OMIM:600151] +synonym: "Bardet-Biedl syndrome 3" EXACT CLINGEN_LABEL [DOID:0110125, MONDO:Lexical, OMIM:600151] +synonym: "Bardet-Biedl syndrome type 3" EXACT [MONDORULE:1] synonym: "BBS3" EXACT ABBREVIATION [DOID:0110125, MONDO:Lexical, OMIM:600151] xref: DOID:0110125 {source="MONDO:equivalentTo"} xref: GARD:822 {source="MONDO:GARD"} @@ -242929,9 +242968,9 @@ synonym: "EDNRB Hirschsprung disease" EXACT [MONDO:design_pattern, MONDO:pattern synonym: "Hirschsprung disease caused by mutation in EDNRB" EXACT [MONDO:design_pattern] synonym: "Hirschsprung disease type 2" RELATED [GARD:0002698] synonym: "Hirschsprung disease, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:600155] -synonym: "Hirschsprung disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:600155] -synonym: "HSCR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600155] -synonym: "susceptibility to Hirschsprung disease 2" RELATED [OMIM:600155] +synonym: "Hirschsprung disease, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "HSCR2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to Hirschsprung disease 2" RELATED [] xref: MEDGEN:374002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600155 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:600155"} @@ -242967,8 +243006,8 @@ subset: orphanet_rare {source="Orphanet:2988"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "khalifa-Graham syndrome" EXACT [Orphanet:2988] -synonym: "pterygium colli and intellectual disability with facial and digital anomalies" RELATED [OMIM:600159] -synonym: "pterygium colli and mental retardation with facial and digital anomalies" RELATED DEPRECATED [OMIM:600159] +synonym: "pterygium colli and intellectual disability with facial and digital anomalies" RELATED [] +synonym: "pterygium colli and mental retardation with facial and digital anomalies" RELATED DEPRECATED [] synonym: "pterygium colli intellectual disability digital anomalies" RELATED [GARD:0004568] synonym: "pterygium colli mental retardation digital anomalies" RELATED DEPRECATED [GARD:0004568] xref: GARD:4568 {source="MONDO:GARD"} @@ -242989,12 +243028,12 @@ name: nanophthalmos 1 subset: gard_rare {source="GARD:18625", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "microphthalmos, simple, autosomal dominant" RELATED [OMIM:600165] -synonym: "Nanophthalmia 1" RELATED [OMIM:600165] +synonym: "microphthalmos, simple, autosomal dominant" RELATED [] +synonym: "Nanophthalmia 1" RELATED [] synonym: "nanophthalmos 1" EXACT [MONDO:Lexical, OMIM:600165] -synonym: "nanophthalmos with high hyperopia and angle-closure glaucoma" RELATED [OMIM:600165] -synonym: "nanophthalmos, autosomal dominant" RELATED [OMIM:600165] -synonym: "nanophthalmos-1" EXACT [OMIM:600165, OMIM:genemap2] +synonym: "nanophthalmos with high hyperopia and angle-closure glaucoma" RELATED [] +synonym: "nanophthalmos, autosomal dominant" RELATED [] +synonym: "nanophthalmos-1" EXACT [] synonym: "NNO1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600165] xref: GARD:18625 {source="MONDO:GARD"} xref: MEDGEN:325037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -243012,9 +243051,9 @@ name: primary hyperparathyroidism def: "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones." [NCIT:P378] comment: Editor note: check relationship to parent and familiar form subset: otar {source="MONDO:OTAR"} -synonym: "familial benign hypercalcemia" RELATED EXCLUDE [DOID:11202] -synonym: "familial primary hyperparathyroidism" RELATED EXCLUDE [DOID:11202] -synonym: "primary hyperparathyroidism" EXACT [MONDO:ambiguous, NCIT:C48280] +synonym: "familial benign hypercalcemia" RELATED EXCLUDE [] +synonym: "familial primary hyperparathyroidism" RELATED EXCLUDE [] +synonym: "primary hyperparathyroidism" EXACT [DOID:11202, icd11.foundation:817194045, MONDO:ambiguous, NCIT:C48280] synonym: "primary hyperparathyroidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:11202 {source="MONDO:equivalentTo"} xref: EFO:0008519 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -243039,7 +243078,7 @@ id: MONDO:0010838 name: gonadal agenesis def: "A congenital disorder characterized by the complete absence of gonadal tissue." [NCIT:C27228] comment: See https://github.com/obophenotype/human-phenotype-ontology/issues/3571 -synonym: "gonadal agenesis" EXACT [OMIM:600171] +synonym: "gonadal agenesis" EXACT [NCIT:C27228, OMIM:600171] xref: MEDGEN:181797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27228 {source="MONDO:equivalentTo"} xref: OMIM:600171 {source="MONDO:equivalentTo"} @@ -243056,16 +243095,16 @@ subset: ordo_disorder {source="Orphanet:1216"} subset: orphanet_rare {source="Orphanet:1216"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant benign distal spinal muscular atrophy" EXACT [Orphanet:1216] -synonym: "autosomal dominant congenital benign spinal muscular atrophy" EXACT [Orphanet:1216] -synonym: "congenital benign spinal muscular atrophy with contractures" EXACT [Orphanet:1216] -synonym: "congenital nonprogressive spinal muscular atrophy" EXACT [Orphanet:1216] -synonym: "HMN8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600175] -synonym: "neuronopathy, distal hereditary motor, type 8" RELATED [OMIM:600175] -synonym: "neuronopathy, distal hereditary motor, type VIII" RELATED [MONDO:Lexical, OMIM:600175] -synonym: "neuropathy, distal hereditary motor, type 8" RELATED [OMIM:600175] -synonym: "spinal muscular atrophy, congenital benign, with contractures" RELATED [OMIM:600175] -synonym: "spinal muscular atrophy, distal, congenital nonprogressive" RELATED [OMIM:600175] +synonym: "autosomal dominant benign distal spinal muscular atrophy" EXACT [DOID:0111215, Orphanet:1216] +synonym: "autosomal dominant congenital benign spinal muscular atrophy" EXACT [DOID:0111215, Orphanet:1216] +synonym: "congenital benign spinal muscular atrophy with contractures" EXACT [DOID:0111215, Orphanet:1216] +synonym: "congenital nonprogressive spinal muscular atrophy" EXACT [DOID:0111215, Orphanet:1216] +synonym: "HMN8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "neuronopathy, distal hereditary motor, type 8" RELATED [] +synonym: "neuronopathy, distal hereditary motor, type VIII" RELATED [MONDO:Lexical] +synonym: "neuropathy, distal hereditary motor, type 8" RELATED [] +synonym: "spinal muscular atrophy, congenital benign, with contractures" RELATED [] +synonym: "spinal muscular atrophy, distal, congenital nonprogressive" RELATED [] xref: DOID:0111215 {source="MONDO:equivalentTo"} xref: GARD:1474 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:1216", source="Orphanet:1216/attributed", source="Orphanet:1216/ntbt"} @@ -243091,10 +243130,10 @@ subset: orphanet_rare {source="Orphanet:2798"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Kuzniecky syndrome" EXACT [Orphanet:2798] -synonym: "pachygyria with intellectual disability and seizures" RELATED [OMIM:600176] -synonym: "pachygyria with intellectual disability, seizures, and arachnoid cysts" RELATED [OMIM:600176] -synonym: "pachygyria with mental retardation and seizures" RELATED DEPRECATED [OMIM:600176] -synonym: "pachygyria with mental retardation, seizures, and arachnoid cysts" RELATED DEPRECATED [OMIM:600176] +synonym: "pachygyria with intellectual disability and seizures" RELATED [] +synonym: "pachygyria with intellectual disability, seizures, and arachnoid cysts" RELATED [] +synonym: "pachygyria with mental retardation and seizures" RELATED DEPRECATED [] +synonym: "pachygyria with mental retardation, seizures, and arachnoid cysts" RELATED DEPRECATED [] synonym: "pachygyria, intellectual disability and epilepsy" RELATED [GARD:0000409] synonym: "pachygyria, mental retardation and epilepsy" RELATED DEPRECATED [GARD:0000409] xref: GARD:409 {source="MONDO:GARD"} @@ -243115,7 +243154,7 @@ name: Waardenburg syndrome type 2B subset: gard_rare {source="GARD:5522", source="MONDO:GARD"} subset: rare synonym: "Waardenburg syndrome type IIB" EXACT [DOID:0110947] -synonym: "Waardenburg syndrome, type 2B" RELATED [MONDO:Lexical, OMIM:600193] +synonym: "Waardenburg syndrome, type 2B" RELATED [MONDO:Lexical] synonym: "WS2B" EXACT ABBREVIATION [DOID:0110947, MONDO:Lexical, OMIM:600193] xref: DOID:0110947 {source="MONDO:equivalentTo"} xref: GARD:5522 {source="MONDO:GARD"} @@ -243141,10 +243180,10 @@ subset: orphanet_rare {source="Orphanet:2451"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cutaneous and mucosal venous malformation" EXACT [Orphanet:2451] -synonym: "mucocutaneous venous malformations" RELATED [Orphanet:2451] -synonym: "VENOUS malformations, multiple cutaneous and mucosal" RELATED [MONDO:Lexical, OMIM:600195] -synonym: "VMCM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600195, Orphanet:2451] -synonym: "Vmcm1" RELATED [OMIM:600195] +synonym: "mucocutaneous venous malformations" RELATED [] +synonym: "VENOUS malformations, multiple cutaneous and mucosal" RELATED [MONDO:Lexical] +synonym: "VMCM" EXACT ABBREVIATION [DOID:0050792, MONDO:Lexical, OMIM:600195, Orphanet:2451] +synonym: "Vmcm1" RELATED [] xref: DOID:0050792 {source="MONDO:equivalentTo"} xref: GARD:16600 {source="MONDO:GARD"} xref: ICD10CM:Q27.8 {source="Orphanet:2451", source="Orphanet:2451/attributed", source="Orphanet:2451/ntbt"} @@ -243167,7 +243206,7 @@ name: dyslexia, susceptibility to, 2 subset: predisposition synonym: "dyslexia, susceptibility to, 2" EXACT [OMIM:600202] synonym: "DYX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600202] -synonym: "reading disability, specific, 2" RELATED [OMIM:600202] +synonym: "reading disability, specific, 2" RELATED [] xref: MEDGEN:325025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600202 {source="MONDO:equivalentTo"} xref: UMLS:C1838436 {source="MEDGEN:325025", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -243188,10 +243227,10 @@ subset: gard_rare {source="GARD:9791", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "COL9A2 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "EDM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600204] +synonym: "EDM2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "epiphyseal dysplasia multiple 2" RELATED [GARD:0009791] synonym: "epiphyseal dysplasia, multiple, 2" EXACT [MONDO:Lexical, OMIM:600204] -synonym: "epiphyseal dysplasia, multiple, type 2" EXACT [MONDORULE:1, OMIM:600204] +synonym: "epiphyseal dysplasia, multiple, type 2" EXACT [MONDORULE:1] synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2" EXACT [] synonym: "multiple epiphyseal dysplasia 2" RELATED [GARD:0009791] xref: DOID:0070298 {source="MONDO:equivalentTo"} @@ -243222,7 +243261,7 @@ subset: gard_rare {source="GARD:2206", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "exostoses, multiple, type 3" RELATED [GARD:0002206] -synonym: "exostoses, multiple, type III" EXACT [MONDO:Lexical, OMIM:600209] +synonym: "exostoses, multiple, type III" EXACT [MONDO:Lexical] synonym: "EXT3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600209] xref: GARD:2206 {source="MONDO:GARD"} xref: MEDGEN:333090 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -243243,9 +243282,9 @@ subset: orphanet_rare {source="Orphanet:98765"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600223, Orphanet:98765] -synonym: "spinocerebellar ataxia 4" RELATED [MONDO:Lexical, OMIM:600223] +synonym: "spinocerebellar ataxia 4" RELATED [MONDO:Lexical] synonym: "spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy" RELATED [GARD:0009970] -synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" RELATED [OMIM:600223] +synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" RELATED [] xref: DOID:0050957 {source="MONDO:equivalentTo"} xref: GARD:9970 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:98765", source="Orphanet:98765/attributed", source="Orphanet:98765/ntbt"} @@ -243269,8 +243308,8 @@ subset: orphanet_rare {source="Orphanet:98766"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600224, Orphanet:98766] -synonym: "spinocerebellar ataxia 5" RELATED [MONDO:Lexical, OMIM:600224] -synonym: "spinocerebellar ataxia type 5" EXACT [MONDORULE:1, OMIM:600224] +synonym: "spinocerebellar ataxia 5" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 5" EXACT [DOID:0050882, icd11.foundation:78905851, MONDORULE:1, Orphanet:98766] xref: DOID:0050882 {source="MONDO:equivalentTo"} xref: GARD:4953 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:98766/attributed", source="Orphanet:98766/ntbt", source="Orphanet:98766"} @@ -243293,7 +243332,7 @@ subset: ordo_disorder {source="Orphanet:2337"} subset: orphanet_rare {source="Orphanet:2337"} subset: rare synonym: "palmoplantar keratoderma, Bothnian type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:600231] -synonym: "PPKB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600231] +synonym: "PPKB" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111707 {source="MONDO:equivalentTo"} xref: GARD:1862 {source="MONDO:GARD"} xref: MEDGEN:325011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -243318,10 +243357,10 @@ subset: ordo_morphological_anomaly {source="Orphanet:141258"} subset: orphanet_rare {source="Orphanet:141258"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "facial clefting, oblique, 1" RELATED [MONDO:Lexical, OMIM:600251] -synonym: "facial clefting, oblique, type 1" EXACT [MONDORULE:1, OMIM:600251] -synonym: "OBLFC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600251] -synonym: "oculomaxillofacial dysplasia with oblique Facial clefts" RELATED [OMIM:600251] +synonym: "facial clefting, oblique, 1" RELATED [MONDO:Lexical] +synonym: "facial clefting, oblique, type 1" EXACT [MONDORULE:1] +synonym: "OBLFC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "oculomaxillofacial dysplasia with oblique Facial clefts" RELATED [] xref: DOID:0111706 {source="MONDO:equivalentTo"} xref: GARD:16974 {source="MONDO:GARD"} xref: ICD10CM:Q18.8 {source="Orphanet:141258", source="Orphanet:141258/attributed", source="Orphanet:141258/ntbt"} @@ -243346,7 +243385,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" RELATED [GARD:0003300] synonym: "Lowry MacLean syndrome" RELATED [GARD:0003300] -synonym: "Lowry-MacLean syndrome" EXACT [OMIM:600252] +synonym: "Lowry-MacLean syndrome" EXACT [icd11.foundation:698387769, OMIM:600252, Orphanet:2409] synonym: "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure" RELATED DEPRECATED [GARD:0003300] xref: GARD:3300 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2409/attributed", source="Orphanet:2409/ntbt", source="Orphanet:2409"} @@ -243372,7 +243411,7 @@ name: chromosome 8Q12.1-q21.2 deletion syndrome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "bor-Duane hydrocephalus contiguous Gene syndrome" RELATED [OMIM:600257] +synonym: "bor-Duane hydrocephalus contiguous Gene syndrome" RELATED [] synonym: "Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome" RELATED [GARD:0010002] synonym: "chromosome 8Q12.1-q21.2 deletion syndrome" EXACT [OMIM:600257] xref: MEDGEN:333071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -243390,7 +243429,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010853 name: Helicobacter pylori infection, susceptibility to subset: predisposition -synonym: "H. pylori infection, susceptibility to" EXACT [OMIM:600263, OMIM:genemap2] +synonym: "H. pylori infection, susceptibility to" EXACT [] synonym: "Helicobacter pylori infection, susceptibility to" EXACT [OMIM:600263] xref: MEDGEN:325004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600263 {source="MONDO:equivalentTo"} @@ -243412,12 +243451,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:3339"} subset: orphanet_rare {source="Orphanet:3339"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aplasia cutis congenita with epibulbar dermoids" RELATED [OMIM:600268] -synonym: "aplasia cutis congenita-epibulbar dermoids syndrome" EXACT [Orphanet:3339] +synonym: "aplasia cutis congenita with epibulbar dermoids" RELATED [] +synonym: "aplasia cutis congenita-epibulbar dermoids syndrome" EXACT [DOID:0111705, Orphanet:3339] synonym: "oculo-ectodermal syndrome" RELATED [GARD:0010366] -synonym: "oculoectodermal syndrome" EXACT [MONDO:Lexical, OMIM:600268, Orphanet:3339] -synonym: "oculoectodermal syndrome, somatic" EXACT [OMIM:600268, OMIM:genemap2] -synonym: "oes" RELATED [MONDO:Lexical, OMIM:600268] +synonym: "oculoectodermal syndrome" EXACT [DOID:0111705, MONDO:Lexical, OMIM:600268, Orphanet:3339] +synonym: "oculoectodermal syndrome, somatic" EXACT [] +synonym: "oes" RELATED [MONDO:Lexical] synonym: "Toriello Lacassie Droste syndrome" RELATED [GARD:0010366] xref: DOID:0111705 {source="MONDO:equivalentTo"} xref: GARD:10366 {source="MONDO:GARD"} @@ -243446,8 +243485,8 @@ subset: rare synonym: "Lopes Gorlin syndrome" RELATED [GARD:0000296] synonym: "Lopes-Gorlin syndrome" EXACT [Orphanet:2832] synonym: "short tarsus absence of lower eyelashes" RELATED [GARD:0000296] -synonym: "short tarsus with absence of LOWER eyelashes" RELATED [MONDO:Lexical, OMIM:600269] -synonym: "stale" RELATED [MONDO:Lexical, OMIM:600269] +synonym: "short tarsus with absence of LOWER eyelashes" RELATED [MONDO:Lexical] +synonym: "stale" RELATED [MONDO:Lexical] xref: GARD:296 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:2832", source="Orphanet:2832/attributed", source="Orphanet:2832/ntbt"} xref: MEDGEN:325001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -243469,12 +243508,12 @@ subset: ordo_disorder {source="Orphanet:88924"} subset: orphanet_rare {source="Orphanet:88924"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 16P13.3 deletion syndrome, distal" RELATED [OMIM:600273] -synonym: "PKDTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600273] -synonym: "polycystic kidney disease, infantile severe, with tuberous sclerosis" RELATED [MONDO:Lexical, OMIM:600273] +synonym: "chromosome 16P13.3 deletion syndrome, distal" RELATED [] +synonym: "PKDTS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "polycystic kidney disease, infantile severe, with tuberous sclerosis" RELATED [MONDO:Lexical] synonym: "polycystic kidneys, severe infantile with tuberous sclerosis" RELATED [GARD:0009481] synonym: "tuberous sclerosis polycystic kidney disease contiguous gene syndrome" RELATED [GARD:0009481] -synonym: "tuberous sclerosis/polycystic kidney disease contiguous gene syndrome" EXACT [Orphanet:88924] +synonym: "tuberous sclerosis/polycystic kidney disease contiguous gene syndrome" EXACT [icd11.foundation:1781576728, OMIM:600273, Orphanet:88924] xref: GARD:9481 {source="MONDO:GARD"} xref: icd11.foundation:1781576728 {source="MONDO:equivalentTo"} xref: MEDGEN:325000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -243496,23 +243535,23 @@ subset: ordo_disorder {source="Orphanet:100069"} subset: orphanet_rare {source="Orphanet:100069"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dementia, frontotemporal" EXACT [OMIM:600274, OMIM:genemap2] -synonym: "dementia, frontotemporal, with or without parkinsonism" EXACT [OMIM:600274, OMIM:genemap2] -synonym: "dementia, frontotemporal, with Parkinsonism" RELATED [OMIM:600274] -synonym: "disinhibition-dementia-Parkinsonism-amyotrophy Complex" RELATED [OMIM:600274] -synonym: "frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:600274] -synonym: "frontotemporal dementia with Parkinsonism" RELATED [OMIM:600274] -synonym: "frontotemporal lobar Degeneration with Tau inclusions" RELATED [OMIM:600274] -synonym: "frontotemporal lobe dementia" RELATED [OMIM:600274] -synonym: "FTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600274] -synonym: "Ftdp17" RELATED [OMIM:600274] -synonym: "Ftld with Tau inclusions" RELATED [OMIM:600274] -synonym: "multiple system tauopathy with presenile dementia" RELATED [OMIM:600274] -synonym: "Pallidopontonigral Degeneration" RELATED [OMIM:600274] -synonym: "Pick Complex" RELATED [OMIM:600274] +synonym: "dementia, frontotemporal" EXACT [] +synonym: "dementia, frontotemporal, with or without parkinsonism" EXACT [] +synonym: "dementia, frontotemporal, with Parkinsonism" RELATED [] +synonym: "disinhibition-dementia-Parkinsonism-amyotrophy Complex" RELATED [] +synonym: "frontotemporal dementia" RELATED [MONDO:Lexical] +synonym: "frontotemporal dementia with Parkinsonism" RELATED [] +synonym: "frontotemporal lobar Degeneration with Tau inclusions" RELATED [] +synonym: "frontotemporal lobe dementia" RELATED [] +synonym: "FTD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Ftdp17" RELATED [] +synonym: "Ftld with Tau inclusions" RELATED [] +synonym: "multiple system tauopathy with presenile dementia" RELATED [] +synonym: "Pallidopontonigral Degeneration" RELATED [] +synonym: "Pick Complex" RELATED [] synonym: "semantic primary progressive aphasia" EXACT [Orphanet:100069] -synonym: "semantic variant PPA" EXACT [Orphanet:100069] -synonym: "Wilhelmsen-Lynch disease" RELATED [OMIM:600274] +synonym: "semantic variant PPA" EXACT [DOID:0081391, Orphanet:100069] +synonym: "Wilhelmsen-Lynch disease" RELATED [] xref: DOID:0081391 {source="MONDO:equivalentTo"} xref: GARD:10792 {source="MONDO:GARD"} xref: ICD10CM:G31.0 {source="Orphanet:100069/attributed", source="Orphanet:100069/ntbt", source="Orphanet:100069"} @@ -243538,7 +243577,7 @@ subset: orphanet_rare {source="Orphanet:2429"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Fryns macrocephaly" EXACT [OMIM:600302, Orphanet:2429] -synonym: "macrocephaly with spastic paraplegia and distinctive craniofacial appearance" RELATED [OMIM:600302] +synonym: "macrocephaly with spastic paraplegia and distinctive craniofacial appearance" RELATED [] xref: GARD:16598 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2429", source="Orphanet:2429/attributed", source="Orphanet:2429/ntbt"} xref: MEDGEN:373933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -243557,10 +243596,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010859 name: obsolete atrioventricular septal defect 3 def: "OBSOLETE. Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene." [MONDO:patterns/disease_series_by_gene] -synonym: "atrioventricular septal defect 3" EXACT [MONDO:Lexical, OMIM:600309] +synonym: "atrioventricular septal defect 3" EXACT [MONDO:Lexical] synonym: "atrioventricular septal defect caused by mutation in GJA1" EXACT [MONDO:design_pattern] -synonym: "atrioventricular septal defect type 3" EXACT [MONDORULE:1, OMIM:600309] -synonym: "AVSD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600309] +synonym: "atrioventricular septal defect type 3" EXACT [MONDORULE:1] +synonym: "AVSD3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "GJA1 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:600309 {source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:98722 {source="OMIM:600309"} @@ -243575,17 +243614,17 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22583", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3" NARROW [DOID:0110488] -synonym: "autosomal recessive nonsyndromic deafness 3" NARROW [OMIM:600316] +synonym: "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 3" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO15A" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 3" NARROW [DOID:0110488, MONDORULE:1] +synonym: "autosomal recessive nonsyndromic deafness type 3" NARROW [MONDORULE:1] synonym: "autosomal recessive nonsyndromic hearing loss 3" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 3" NARROW [MONDO:Lexical, OMIM:600316, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 3" NARROW [MONDORULE:1, OMIM:600316] -synonym: "DFNB3" NARROW ABBREVIATION [DOID:0110488, MONDO:Lexical, OMIM:600316] +synonym: "deafness, autosomal recessive 3" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 3" NARROW [MONDORULE:1] +synonym: "DFNB3" NARROW ABBREVIATION [MONDO:Lexical] synonym: "MYO15A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "neurosensory nonsyndromic recessive deafness 3" NARROW [OMIM:600316] -synonym: "NRSD3" NARROW ABBREVIATION [DOID:0110488] +synonym: "neurosensory nonsyndromic recessive deafness 3" NARROW [] +synonym: "NRSD3" NARROW ABBREVIATION [] xref: DOID:0110488 {source="MONDO:equivalentTo"} xref: GARD:22583 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110488"} @@ -243604,8 +243643,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010861 name: type 1 diabetes mellitus 3 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26." [DOID:0110742, MONDO:patterns/inherited_susceptibility, PMID:7842018] -synonym: "diabetes mellitus, insulin-dependent, 3" RELATED [MONDO:Lexical, OMIM:600318] -synonym: "IDDM3" EXACT ABBREVIATION [DOID:0110742, MONDO:Lexical, OMIM:600318] +synonym: "diabetes mellitus, insulin-dependent, 3" RELATED [MONDO:Lexical] +synonym: "IDDM3" EXACT ABBREVIATION [DOID:0110742, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 3" EXACT [DOID:0110742, OMIM:600318] xref: DOID:0110742 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110742"} @@ -243623,8 +243662,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010862 name: type 1 diabetes mellitus 4 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13." [DOID:0110743, MONDO:patterns/inherited_susceptibility, PMID:9683605] -synonym: "diabetes mellitus, insulin-dependent, 4" RELATED [MONDO:Lexical, OMIM:600319] -synonym: "IDDM4" EXACT ABBREVIATION [DOID:0110743, MONDO:Lexical, OMIM:600319] +synonym: "diabetes mellitus, insulin-dependent, 4" RELATED [MONDO:Lexical] +synonym: "IDDM4" EXACT ABBREVIATION [DOID:0110743, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 4" EXACT [DOID:0110743, OMIM:600319] xref: DOID:0110743 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110743"} @@ -243642,9 +243681,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010863 name: type 1 diabetes mellitus 5 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] -synonym: "diabetes mellitus, insulin-dependent, 5" RELATED [MONDO:Lexical, OMIM:600320] -synonym: "diabetes mellitus, insulin-dependent, type 5" EXACT [MONDORULE:1, OMIM:600320] -synonym: "IDDM5" EXACT ABBREVIATION [DOID:0110744, MONDO:Lexical, OMIM:600320] +synonym: "diabetes mellitus, insulin-dependent, 5" RELATED [MONDO:Lexical] +synonym: "diabetes mellitus, insulin-dependent, type 5" EXACT [MONDORULE:1] +synonym: "IDDM5" EXACT ABBREVIATION [DOID:0110744, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 5" EXACT [DOID:0110744, OMIM:600320] synonym: "SUMO4 type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "type 1 diabetes mellitus caused by mutation in SUMO4" EXACT [MONDO:design_pattern] @@ -243667,8 +243706,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010864 name: type 1 diabetes mellitus 7 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31." [DOID:0110746, MONDO:patterns/inherited_susceptibility, PMID:7704030] -synonym: "diabetes mellitus, insulin-dependent, 7" RELATED [MONDO:Lexical, OMIM:600321] -synonym: "IDDM7" EXACT ABBREVIATION [DOID:0110746, MONDO:Lexical, OMIM:600321] +synonym: "diabetes mellitus, insulin-dependent, 7" RELATED [MONDO:Lexical] +synonym: "IDDM7" EXACT ABBREVIATION [DOID:0110746, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 7" EXACT [DOID:0110746, OMIM:600321] xref: DOID:0110746 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110746"} @@ -243693,10 +243732,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:221120"} subset: orphanet_rare {source="Orphanet:221120"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aminopterin syndrome sine aminopterin" RELATED [GARD:0004544, MONDO:Lexical, OMIM:600325] +synonym: "aminopterin syndrome sine aminopterin" RELATED [GARD:0004544, MONDO:Lexical] synonym: "aminopterin syndrome-like sine aminopterin" EXACT [Orphanet:221120] synonym: "ASSA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600325, Orphanet:221120] -synonym: "pseudoaminopterin syndrome" EXACT [OMIM:600325] +synonym: "pseudoaminopterin syndrome" EXACT [icd11.foundation:893045173, OMIM:600325, Orphanet:221120] xref: GARD:4544 {source="MONDO:GARD"} xref: ICD10CM:Q82.0 {source="Orphanet:221120", source="MONDO:relatedTo", source="Orphanet:221120/attributed", source="Orphanet:221120/ntbt"} xref: icd11.foundation:893045173 {source="MONDO:equivalentTo"} @@ -243726,7 +243765,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:85179"} subset: orphanet_rare {source="Orphanet:85179"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "osteopetrosis and infantile neuroaxonal dystrophy" RELATED [OMIM:600329] +synonym: "osteopetrosis and infantile neuroaxonal dystrophy" RELATED [] xref: DOID:0070343 {source="MONDO:equivalentTo"} xref: GARD:10082 {source="MONDO:GARD"} xref: ICD10CM:Q78.2 {source="Orphanet:85179/attributed", source="Orphanet:85179/ntbt", source="Orphanet:85179"} @@ -243749,8 +243788,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2825"} subset: orphanet_rare {source="Orphanet:2825"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PARC syndrome" EXACT [OMIM:600331] -synonym: "poikiloderma, alopecia, retrognathism, and cleft palate" RELATED [OMIM:600331] +synonym: "PARC syndrome" EXACT [OMIM:600331, Orphanet:2825] +synonym: "poikiloderma, alopecia, retrognathism, and cleft palate" RELATED [] synonym: "poikiloderma-alopecia-retrognathism-cleft palate syndrome" EXACT [Orphanet:2825] xref: GARD:4223 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2825", source="Orphanet:2825/attributed", source="Orphanet:2825/ntbt"} @@ -243767,9 +243806,9 @@ id: MONDO:0010868 name: rippling muscle disease 1 subset: gard_rare {source="GARD:9165", source="MONDO:GARD"} subset: rare -synonym: "rippling muscle disease 1" EXACT [MONDO:Lexical, OMIM:600332] +synonym: "rippling muscle disease 1" EXACT [DOID:0070308, MONDO:Lexical, OMIM:600332] synonym: "rippling muscle disease, 1" RELATED [GARD:0009165] -synonym: "rippling muscle disease-1" EXACT [OMIM:600332, OMIM:genemap2] +synonym: "rippling muscle disease-1" EXACT [] synonym: "RMD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600332] xref: DOID:0070308 {source="MONDO:equivalentTo"} xref: GARD:9165 {source="MONDO:GARD"} @@ -243810,10 +243849,10 @@ synonym: "distal myopathy, Udd type" EXACT [Orphanet:609] synonym: "distal titinopathy" EXACT [DOID:0111078, Orphanet:609] synonym: "Finnish tibial muscular dystrophy" EXACT [DOID:0111078, Orphanet:609] synonym: "tardive tibial muscular dystrophy" EXACT [DOID:0111078, OMIM:600334] -synonym: "tibial muscular dystrophy, tardive" RELATED [OMIM:600334] -synonym: "TMD" EXACT ABBREVIATION [DOID:0111078, Orphanet:609] -synonym: "Tmd" RELATED [OMIM:600334] -synonym: "Udd myopathy" EXACT [DOID:0111078, Orphanet:609] +synonym: "tibial muscular dystrophy, tardive" RELATED [] +synonym: "TMD" EXACT ABBREVIATION [DOID:0111078, OMIM:600334, Orphanet:609] +synonym: "Tmd" RELATED [] +synonym: "Udd myopathy" EXACT [DOID:0111078, OMIM:600334, Orphanet:609] synonym: "Udd type distal myopathy" EXACT [DOID:0111078] xref: DOID:0111078 {source="MONDO:equivalentTo"} xref: GARD:13154 {source="MONDO:GARD"} @@ -243844,7 +243883,7 @@ is_a: MONDO:0003847 {source="MESH:C563952/inferred"} ! hereditary disease [Term] id: MONDO:0010872 name: parotid salivary glands, polycystic dysgenetic disease of -synonym: "parotid salivary glands, polycystic dysgenetic disease OF" RELATED [MONDO:Lexical, OMIM:600343] +synonym: "parotid salivary glands, polycystic dysgenetic disease OF" RELATED [MONDO:Lexical] synonym: "PDDP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600343] xref: MEDGEN:764047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600343 {source="MONDO:equivalentTo"} @@ -243857,9 +243896,9 @@ name: band heterotopia of brain comment: Editor check: TODO subset: gard_rare {source="GARD:2250", source="MONDO:GARD"} subset: rare -synonym: "band heterotopia" RELATED [OMIM:600348] -synonym: "band heterotopia of brain" EXACT [OMIM:600348] -synonym: "BH" RELATED ABBREVIATION [OMIM:600348] +synonym: "band heterotopia" RELATED [] +synonym: "band heterotopia of brain" EXACT [] +synonym: "BH" RELATED ABBREVIATION [] xref: GARD:2250 {source="MONDO:GARD"} xref: MEDGEN:924885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563950 {source="MONDO:equivalentTo"} @@ -243898,7 +243937,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aplasia cutis congenita of limbs recessive" RELATED [GARD:0000754] -synonym: "aplasia cutis congenita of limbs, autosomal recessive" RELATED [OMIM:600360] +synonym: "aplasia cutis congenita of limbs, autosomal recessive" RELATED [] synonym: "congenital absence of skin on the upper or lower limbs" RELATED [GARD:0000754] synonym: "recessive aplasia cutis congenita of the limbs" RELATED [GARD:0000754] xref: GARD:754 {source="MONDO:GARD"} @@ -243922,17 +243961,17 @@ subset: ordo_disorder {source="Orphanet:64751"} subset: orphanet_rare {source="Orphanet:64751"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant" RELATED [OMIM:600361] +synonym: "Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant" RELATED [] synonym: "Charcot-Marie-Tooth disease-pyramidal features syndrome" EXACT [Orphanet:64751] -synonym: "Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant" RELATED [OMIM:600361] -synonym: "CMT with pyramidal features" RELATED [OMIM:600361] -synonym: "hereditary motor and sensory neuropathy 5" RELATED [GARD:0009208, OMIM:600361] -synonym: "hereditary motor and sensory neuropathy type 5" EXACT [MONDORULE:1, OMIM:600361] -synonym: "hereditary motor and sensory neuropathy V" RELATED [OMIM:600361] +synonym: "Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant" RELATED [] +synonym: "CMT with pyramidal features" RELATED [] +synonym: "hereditary motor and sensory neuropathy 5" RELATED [GARD:0009208] +synonym: "hereditary motor and sensory neuropathy type 5" EXACT [MONDORULE:1, Orphanet:64751] +synonym: "hereditary motor and sensory neuropathy V" RELATED [] synonym: "hereditary motor and sensory neuropathy with pyramidal features" EXACT [DOID:0080067] synonym: "HMSN 5" EXACT [OMIM:600361, Orphanet:64751] -synonym: "HMSN5" RELATED ABBREVIATION [OMIM:600361] -synonym: "peroneal muscular atrophy with pyramidal features, autosomal dominant" RELATED [OMIM:600361] +synonym: "HMSN5" RELATED ABBREVIATION [] +synonym: "peroneal muscular atrophy with pyramidal features, autosomal dominant" RELATED [] xref: DOID:0080067 {source="MONDO:equivalentTo"} xref: GARD:9208 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:64751", source="Orphanet:64751/attributed", source="Orphanet:64751/ntbt"} @@ -243954,17 +243993,17 @@ subset: ordo_disorder {source="Orphanet:100988"} subset: orphanet_rare {source="Orphanet:100988"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant familial spastic paraplegia type 3" EXACT [DOID:0110811, Orphanet:100988] +synonym: "autosomal dominant familial spastic paraplegia type 3" EXACT [DOID:0110811] synonym: "autosomal dominant spastic paraplegia 6" EXACT [DOID:0110811] -synonym: "autosomal dominant spastic paraplegia type 6" EXACT [DOID:0110811] +synonym: "autosomal dominant spastic paraplegia type 6" EXACT [DOID:0110811, Orphanet:100988] synonym: "familial spastic paraplegia autosomal dominant 3" RELATED [GARD:0004928] -synonym: "familial spastic paraplegia, autosomal dominant, 3" RELATED [OMIM:600363] +synonym: "familial spastic paraplegia, autosomal dominant, 3" RELATED [] synonym: "FSP3" EXACT ABBREVIATION [DOID:0110811] synonym: "hereditary spastic paraplegia caused by mutation in NIPA1" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 6" EXACT [DOID:0110811, MONDORULE:1] +synonym: "hereditary spastic paraplegia type 6" EXACT [MONDORULE:1] synonym: "NIPA1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 6" RELATED [GARD:0004928] -synonym: "spastic paraplegia 6, autosomal dominant" RELATED [MONDO:Lexical, OMIM:600363] +synonym: "spastic paraplegia 6, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG6" EXACT ABBREVIATION [DOID:0110811, MONDO:Lexical, OMIM:600363, Orphanet:100988] xref: DOID:0110811 {source="MONDO:equivalentTo"} xref: GARD:4928 {source="MONDO:GARD"} @@ -243991,11 +244030,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1458"} subset: orphanet_rare {source="Orphanet:1458"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome" RELATED [OMIM:600373] +synonym: "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome" RELATED [] synonym: "cerebral, ocular, dental, auricular, and skeletal syndrome" RELATED [GARD:0001418] synonym: "cerebro-oculo-dento-auriculo-skeletal syndrome" RELATED [GARD:0001418] synonym: "cerebrooculodentoauriculoskeletal syndrome" EXACT [Orphanet:1458] -synonym: "CODAS syndrome" EXACT [OMIM:600373] +synonym: "CODAS syndrome" EXACT [DOID:0111274, NCIT:C126744, OMIM:600373, Orphanet:1458] xref: DOID:0111274 {source="MONDO:equivalentTo"} xref: GARD:1418 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1458", source="Orphanet:1458/attributed", source="Orphanet:1458/ntbt"} @@ -244025,10 +244064,10 @@ subset: rare synonym: "ACVRL1 hereditary hemorrhagic telangiectasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1" EXACT [MONDO:design_pattern] synonym: "hereditary hemorrhagic telangiectasia type 2" RELATED [GARD:0009901] -synonym: "HHT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600376] +synonym: "HHT2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ORW2" RELATED ABBREVIATION [GARD:0009901] synonym: "Osler Weber Rendu syndrome type 2" RELATED [GARD:0009901] -synonym: "pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related" RELATED [OMIM:600376] +synonym: "pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related" RELATED [] synonym: "telangiectasia hereditary hemorrhagic type 2" RELATED [GARD:0009901] synonym: "telangiectasia, hereditary hemorrhagic, type 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:600376] xref: GARD:9901 {source="MONDO:GARD"} @@ -244056,14 +244095,14 @@ subset: orphanet_rare {source="Orphanet:2496"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "8q13 microdeletion syndrome" EXACT [Orphanet:2496] -synonym: "chromosome 8Q13 deletion syndrome" RELATED [OMIM:600383] +synonym: "chromosome 8Q13 deletion syndrome" RELATED [] synonym: "Del(8)q(13)" EXACT [Orphanet:2496] synonym: "dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis" RELATED [GARD:0004302] synonym: "mesomelia synostoses" RELATED [GARD:0004302] -synonym: "mesomelia-synostoses syndrome" EXACT [OMIM:600383] +synonym: "mesomelia-synostoses syndrome" EXACT [OMIM:600383, Orphanet:2496] synonym: "mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type" EXACT [Orphanet:2496] synonym: "mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type" EXACT [OMIM:600383, Orphanet:2496] -synonym: "mesomelic dysplasia, syndromic" RELATED [OMIM:600383] +synonym: "mesomelic dysplasia, syndromic" RELATED [] synonym: "monosomy 8q13" EXACT [Orphanet:2496] synonym: "Verloes-David syndrome" EXACT [Orphanet:2496] xref: GARD:4302 {source="MONDO:GARD"} @@ -244094,9 +244133,9 @@ subset: orphanet_rare {source="Orphanet:1113"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Aphalangia partial with syndactyly and duplication of metatarsal IV" RELATED [GARD:0000748] -synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal 4" RELATED [OMIM:600384] -synonym: "APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV" RELATED [OMIM:600384] -synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4" EXACT [MONDORULE:1, OMIM:600384] +synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal 4" RELATED [] +synonym: "APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV" RELATED [] +synonym: "Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4" EXACT [MONDORULE:1] xref: GARD:748 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:1113/attributed", source="Orphanet:1113/ntbt", source="Orphanet:1113"} xref: MEDGEN:324958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -244119,7 +244158,7 @@ subset: orphanet_rare {source="Orphanet:2835"} subset: rare synonym: "familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails" RELATED [GARD:0000374] synonym: "pectus excavatum, macrocephaly and dysplastic nails" RELATED [GARD:0000374] -synonym: "pectus excavatum, macrocephaly, short stature, and dysplastic nails" RELATED [OMIM:600399] +synonym: "pectus excavatum, macrocephaly, short stature, and dysplastic nails" RELATED [] synonym: "Zori Stalker Williams syndrome" RELATED [GARD:0000374] synonym: "Zori-Stalker-Williams syndrome" EXACT [Orphanet:2835] xref: GARD:374 {source="MONDO:GARD"} @@ -244171,20 +244210,20 @@ subset: orphanet_rare {source="Orphanet:1001"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "2q37 deletion syndrome" RELATED [GARD:0010202] -synonym: "2q37 microdeletion syndrome" EXACT CLINGEN_LABEL [] +synonym: "2q37 microdeletion syndrome" EXACT CLINGEN_LABEL [DOID:0111704, Orphanet:1001] synonym: "2q37 monosomy" EXACT [DECIPHER:44] -synonym: "Albright hereditary osteodystrophy type 3" EXACT [Orphanet:1001] -synonym: "Albright hereditary osteodystrophy-like syndrome" EXACT [OMIM:600430, Orphanet:1001] -synonym: "BDMR" EXACT ABBREVIATION [NCIT:C129021] -synonym: "brachydactyly intellectual disability syndrome" EXACT [NCIT:C129021] +synonym: "Albright hereditary osteodystrophy type 3" EXACT [DOID:0111704, Orphanet:1001] +synonym: "Albright hereditary osteodystrophy-like syndrome" EXACT [DOID:0111704, OMIM:600430, Orphanet:1001] +synonym: "BDMR" EXACT ABBREVIATION [DOID:0111704, NCIT:C129021] +synonym: "brachydactyly intellectual disability syndrome" EXACT [] synonym: "brachydactyly mental retardation syndrome" EXACT DEPRECATED [NCIT:C129021] -synonym: "brachydactyly-intellectual disability syndrome" EXACT [OMIM:600430, Orphanet:1001] -synonym: "brachydactyly-mental retardation syndrome" RELATED DEPRECATED [OMIM:600430] -synonym: "chromosome 2q37 deletion syndrome" RELATED [OMIM:600430] -synonym: "Del(2)(q37)" EXACT [Orphanet:1001] -synonym: "deletion 2q37" EXACT [Orphanet:1001] -synonym: "deletion 2q37-qter" EXACT [Orphanet:1001] -synonym: "monosomy 2q37-qter" EXACT [Orphanet:1001] +synonym: "brachydactyly-intellectual disability syndrome" EXACT [DOID:0111704, Orphanet:1001] +synonym: "brachydactyly-mental retardation syndrome" RELATED DEPRECATED [] +synonym: "chromosome 2q37 deletion syndrome" RELATED [] +synonym: "Del(2)(q37)" EXACT [DOID:0111704, Orphanet:1001] +synonym: "deletion 2q37" EXACT [DOID:0111704, Orphanet:1001] +synonym: "deletion 2q37-qter" EXACT [] +synonym: "monosomy 2q37-qter" EXACT [] xref: DECIPHER:44 {source="MONDO:equivalentTo"} xref: DOID:0111704 {source="MONDO:equivalentTo"} xref: GARD:10202 {source="MONDO:GARD"} @@ -244221,7 +244260,7 @@ subset: rare synonym: "anterior cervical hypertrichosis" RELATED [GARD:0008438] synonym: "hairy throat" RELATED [GARD:0008438] synonym: "hairy throat syndrome" EXACT [Orphanet:3387] -synonym: "hypertrichosis, anterior cervical" RELATED [OMIM:600457] +synonym: "hypertrichosis, anterior cervical" RELATED [] synonym: "Tsukahara Kajii syndrome" RELATED [GARD:0008438] synonym: "Tsukahara-Kajii syndrome" EXACT [Orphanet:3387] xref: GARD:8438 {source="MONDO:GARD"} @@ -244244,10 +244283,10 @@ subset: otar {source="MONDO:OTAR"} synonym: "adenomyosis of the uterus" EXACT [NCIT:C6996] synonym: "adenomyosis of uterus" EXACT [NCIT:C6996] synonym: "endometriosis (disease) of myometrium" EXACT [] -synonym: "endometriosis interna" EXACT [DOID:288] -synonym: "endometriosis of myometrium" EXACT [DOID:288] -synonym: "endometriosis of uterus" EXACT [DOID:288] -synonym: "endometriosis, myometrium" EXACT [DOID:288] +synonym: "endometriosis interna" EXACT [DOID:288, icd11.foundation:171294592] +synonym: "endometriosis of myometrium" EXACT [DOID:288, icd11.foundation:171294592] +synonym: "endometriosis of uterus" EXACT [DOID:288, ICD10CM:N80.0] +synonym: "endometriosis, myometrium" EXACT [DOID:288, icd11.foundation:171294592] synonym: "myometrium endometriosis (disease)" EXACT [MONDO:patterns/location] synonym: "uterine adenomyosis" EXACT [DOID:288, NCIT:C6996] synonym: "uterine corpus adenomyosis" EXACT [NCIT:C6996] @@ -244284,7 +244323,7 @@ subset: ordo_disorder {source="Orphanet:1682"} subset: ordo_malformation_syndrome {source="Orphanet:1682"} subset: orphanet_rare {source="Orphanet:1682"} subset: rare -synonym: "arterial dissection with lentiginosis" RELATED [OMIM:600459] +synonym: "arterial dissection with lentiginosis" RELATED [] xref: GARD:16577 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1682", source="Orphanet:1682/ntbt"} xref: MEDGEN:325345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -244307,11 +244346,11 @@ subset: orphanet_rare {source="Orphanet:2008"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACFS" EXACT ABBREVIATION [Orphanet:2008] -synonym: "acrocardiofacial syndrome" EXACT [OMIM:600460] -synonym: "CCGE" RELATED ABBREVIATION [OMIM:600460] +synonym: "acrocardiofacial syndrome" EXACT [DOID:0070419, icd11.foundation:976844546, OMIM:600460, Orphanet:2008] +synonym: "CCGE" RELATED ABBREVIATION [] synonym: "CCGE syndrome" EXACT [Orphanet:2008] -synonym: "cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly" RELATED [OMIM:600460] -synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" EXACT [Orphanet:2008] +synonym: "cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly" RELATED [] +synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" EXACT [DOID:0070419, Orphanet:2008] xref: DOID:0070419 {source="MONDO:equivalentTo"} xref: GARD:1167 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2008", source="Orphanet:2008/attributed", source="Orphanet:2008/ntbt"} @@ -244337,7 +244376,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hemolytic anaemia lethal congenital nonspherocytic with genital and other abnormalities" RELATED OMO:0003005 [] synonym: "hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities" RELATED [GARD:0002642] -synonym: "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" RELATED [OMIM:600461] +synonym: "hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities" RELATED [] synonym: "water-West syndrome" EXACT [Orphanet:1046] xref: GARD:2642 {source="MONDO:GARD"} xref: ICD10CM:D58.8 {source="Orphanet:1046", source="Orphanet:1046/attributed", source="Orphanet:1046/ntbt"} @@ -244361,12 +244400,12 @@ id: MONDO:0010893 name: malignant hyperthermia, susceptibility to, 4 subset: predisposition synonym: "malignant hyperpyrexia susceptibility type 4" RELATED [GARD:0003366, MESH:C535697] -synonym: "malignant hyperthermia susceptibility 4" EXACT [OMIM:600467, OMIM:genemap2] +synonym: "malignant hyperthermia susceptibility 4" EXACT [] synonym: "malignant hyperthermia susceptibility type 4" RELATED [GARD:0003366] synonym: "malignant hyperthermia, susceptibility to, 4" EXACT [MESH:C535697, OMIM:600467] -synonym: "malignant hyperthermia, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:600467] +synonym: "malignant hyperthermia, susceptibility to, type 4" EXACT [MONDORULE:1] synonym: "MHS4" RELATED ABBREVIATION [GARD:0003366, MESH:C535697] -synonym: "Mhs4" RELATED [OMIM:600467] +synonym: "Mhs4" RELATED [] xref: MEDGEN:324944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535697 {source="MONDO:equivalentTo"} xref: OMIM:600467 {source="GARD:0003366", source="MONDO:equivalentTo"} @@ -244390,13 +244429,13 @@ synonym: "hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes" EXACT synonym: "HNF1A maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "HNF1A-associated monogenic diabetes" EXACT [NCIT:C129742] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in HNF1A" EXACT [] -synonym: "maturity-onset diabetes of the young type 3" EXACT CLINGEN_LABEL [] -synonym: "maturity-onset diabetes of the young, type 3" RELATED [MONDO:Lexical, OMIM:600496] +synonym: "maturity-onset diabetes of the young type 3" EXACT CLINGEN_LABEL [DOID:0111102] +synonym: "maturity-onset diabetes of the young, type 3" RELATED [MONDO:Lexical] synonym: "MODY hepatocyte nuclear factor-1-alpha related" RELATED [GARD:0010658] synonym: "MODY type 3" EXACT [DOID:0111102, GARD:0010658] -synonym: "MODY, type 3" RELATED [OMIM:600496] -synonym: "MODY, type III" EXACT [OMIM:600496, OMIM:genemap2] -synonym: "MODY3" EXACT ABBREVIATION [DOID:0111102, MONDO:Lexical, OMIM:600496] +synonym: "MODY, type 3" RELATED [] +synonym: "MODY, type III" EXACT [] +synonym: "MODY3" EXACT ABBREVIATION [DOID:0111102, MONDO:Lexical, NCIT:C129742, OMIM:600496] synonym: "type 3 maturity-onset diabetes of the young" RELATED [GARD:0010658] xref: DOID:0111102 {source="MONDO:equivalentTo"} xref: GARD:10658 {source="MONDO:GARD"} @@ -244420,10 +244459,10 @@ id: MONDO:0010895 name: ABCD syndrome def: "An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)." [DOID:0050600, http://en.wikipedia.org/wiki/ABCD_syndrome, OMIM:600501] subset: otar {source="MONDO:OTAR"} -synonym: "ABCD syndrome" EXACT [MONDO:Lexical, OMIM:600501] -synonym: "ABCDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600501] -synonym: "albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness" RELATED [OMIM:600501] -synonym: "albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness" EXACT [DOID:0050600] +synonym: "ABCD syndrome" EXACT [DOID:0050600, MONDO:Lexical, OMIM:600501] +synonym: "ABCDS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness" RELATED [] +synonym: "albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness" EXACT [] xref: DOID:0050600 {source="MONDO:equivalentTo"} xref: MEDGEN:333014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535334 {source="MONDO:equivalentTo"} @@ -244446,11 +244485,11 @@ subset: gard_rare {source="GARD:4356", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glaucoma, pigment-dispersion type" RELATED [OMIM:600510] -synonym: "glaucoma-RELATED pigment dispersion syndrome" RELATED [MONDO:Lexical, OMIM:600510] -synonym: "glaucoma-related pigment dispersion syndrome" EXACT [DOID:0060680] -synonym: "GPDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600510] -synonym: "pigment dispersion syndrome" EXACT [OMIM:600510] +synonym: "glaucoma, pigment-dispersion type" RELATED [] +synonym: "glaucoma-RELATED pigment dispersion syndrome" RELATED [MONDO:Lexical] +synonym: "glaucoma-related pigment dispersion syndrome" EXACT [DOID:0060680, OMIM:600510] +synonym: "GPDS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pigment dispersion syndrome" EXACT [DOID:0060680, NCIT:C187288, OMIM:600510] synonym: "pigment-dispersion syndrome" RELATED [GARD:0004356] synonym: "pigment-dispersion type glaucoma" EXACT [DOID:0060680] xref: DOID:0060680 {source="MONDO:equivalentTo"} @@ -244470,9 +244509,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4356/pigment id: MONDO:0010897 name: schizophrenia 3 def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23." [DOID:0070079] -synonym: "schizophrenia 3" EXACT [MONDO:Lexical, OMIM:600511] -synonym: "schizophrenia 3 with or without an affective disorder" RELATED [OMIM:600511] -synonym: "schizophrenia susceptibility locus, chromosome 6-related" RELATED [OMIM:600511] +synonym: "schizophrenia 3" EXACT [DOID:0070079, MONDO:Lexical, OMIM:600511] +synonym: "schizophrenia 3 with or without an affective disorder" RELATED [] +synonym: "schizophrenia susceptibility locus, chromosome 6-related" RELATED [] synonym: "SCZD3" EXACT ABBREVIATION [DOID:0070079, MONDO:Lexical, OMIM:600511] xref: DOID:0070079 {source="MONDO:equivalentTo"} xref: MEDGEN:324936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -244495,11 +244534,11 @@ subset: rare synonym: "ADEAF" EXACT ABBREVIATION [Orphanet:101046] synonym: "ADLTE" EXACT ABBREVIATION [Orphanet:101046] synonym: "ADPEAF" EXACT ABBREVIATION [Orphanet:101046] -synonym: "Autosomal dominant epilepsy with auditory features" EXACT CLINGEN_LABEL [] -synonym: "autosomal dominant epilepsy with auditory features" EXACT [Orphanet:101046] +synonym: "Autosomal dominant epilepsy with auditory features" EXACT CLINGEN_LABEL [icd11.foundation:832717248, Orphanet:101046] +synonym: "autosomal dominant epilepsy with auditory features" EXACT [icd11.foundation:832717248, Orphanet:101046] synonym: "autosomal dominant lateral temporal lobe epilepsy" EXACT [Orphanet:101046] synonym: "autosomal dominant partial epilepsy with auditory features" RELATED [GARD:0002257] -synonym: "epilepsy, familial temporal lobe 1" NARROW [NCIT:C141441] +synonym: "epilepsy, familial temporal lobe 1" NARROW [] synonym: "partial epilepsy with auditory aura" EXACT [Orphanet:101046] synonym: "partial epilepsy with auditory features" EXACT [Orphanet:101046] xref: GARD:2257 {source="MONDO:GARD"} @@ -244524,11 +244563,11 @@ subset: gard_rare {source="GARD:15319", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 1" EXACT [DOID:0060682, MONDORULE:1] +synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 1" EXACT [MONDORULE:1] synonym: "CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ENFL1" EXACT ABBREVIATION [DOID:0060682, MONDO:Lexical, OMIM:600513] -synonym: "epilepsy, nocturnal frontal lobe, 1" RELATED [MONDO:Lexical, OMIM:600513] -synonym: "epilepsy, nocturnal frontal lobe, type 1" EXACT [MONDORULE:1, OMIM:600513] +synonym: "epilepsy, nocturnal frontal lobe, 1" RELATED [MONDO:Lexical] +synonym: "epilepsy, nocturnal frontal lobe, type 1" EXACT [MONDORULE:1] synonym: "nocturnal frontal lobe epilepsy 1" EXACT [DOID:0060682] xref: DOID:0060682 {source="MONDO:equivalentTo"} xref: GARD:15319 {source="MONDO:GARD"} @@ -244572,8 +244611,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2119"} subset: orphanet_rare {source="Orphanet:2119"} subset: rare synonym: "communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts" RELATED [GARD:0002620] -synonym: "HEC syndrome" EXACT [OMIM:600559] -synonym: "hydrocephalus, endocardial fibroelastosis, and cataracts" RELATED [OMIM:600559] +synonym: "HEC syndrome" EXACT [OMIM:600559, Orphanet:2119] +synonym: "hydrocephalus, endocardial fibroelastosis, and cataracts" RELATED [] synonym: "hydrocephalus-endocardial fibroelastosis-cataract syndrome" EXACT [Orphanet:2119] xref: GARD:2620 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2119", source="Orphanet:2119/attributed", source="Orphanet:2119/ntbt"} @@ -244595,7 +244634,7 @@ subset: ordo_disorder {source="Orphanet:163662"} subset: orphanet_rare {source="Orphanet:163662"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spondyloepiphyseal dysplasia with atlantoaxial instability" RELATED [OMIM:600561] +synonym: "spondyloepiphyseal dysplasia with atlantoaxial instability" RELATED [] xref: GARD:16994 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:163662", source="Orphanet:163662/attributed", source="Orphanet:163662/ntbt"} xref: icd11.foundation:1019322569 {source="MONDO:equivalentTo"} @@ -244614,7 +244653,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "craniosynostosis, Adelaide type" EXACT [MONDO:Lexical, OMIM:600593] -synonym: "CRSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600593] +synonym: "CRSA" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:371600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563471 {source="MONDO:equivalentTo"} xref: OMIM:600593 {source="MONDO:equivalentTo"} @@ -244637,12 +244676,12 @@ name: cone-rod dystrophy 1 subset: gard_rare {source="GARD:10651", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 1" EXACT [MONDO:Lexical, OMIM:600624] -synonym: "cone-rod dystrophy type 1" EXACT [DOID:0111009, MONDORULE:1] -synonym: "cone-rod retinal dystrophy-1" EXACT [OMIM:600624, OMIM:genemap2] +synonym: "cone-rod dystrophy 1" EXACT [DOID:0111009, MONDO:Lexical, OMIM:600624] +synonym: "cone-rod dystrophy type 1" EXACT [MONDORULE:1] +synonym: "cone-rod retinal dystrophy-1" EXACT [] synonym: "CORD1" EXACT ABBREVIATION [DOID:0111009, MONDO:Lexical, OMIM:600624] -synonym: "CRD1" EXACT ABBREVIATION [DOID:0111009] -synonym: "Crd1" RELATED [OMIM:600624] +synonym: "CRD1" EXACT ABBREVIATION [DOID:0111009, OMIM:600624] +synonym: "Crd1" RELATED [] xref: DOID:0111009 {source="MONDO:equivalentTo"} xref: GARD:10651 {source="MONDO:GARD"} xref: MEDGEN:371596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -244661,13 +244700,13 @@ def: "Any orofacial cleft in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:18303", source="MONDO:GARD"} subset: rare synonym: "BMP4 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cleft lip with or without cleft palate, nonsyndromic, 11" RELATED [OMIM:600625] -synonym: "cleft Lip, congenital Healed" RELATED [OMIM:600625] -synonym: "congenital Healed cleft lip" RELATED [OMIM:600625] -synonym: "OFC11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600625] -synonym: "orofacial cleft 11" EXACT [MONDO:Lexical, OMIM:600625] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 11" RELATED [] +synonym: "cleft Lip, congenital Healed" RELATED [] +synonym: "congenital Healed cleft lip" RELATED [] +synonym: "OFC11" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "orofacial cleft 11" EXACT [DOID:0080404, MONDO:Lexical, OMIM:600625] synonym: "orofacial cleft caused by mutation in BMP4" EXACT [MONDO:design_pattern] -synonym: "orofacial cleft type 11" EXACT [MONDORULE:2, OMIM:600625] +synonym: "orofacial cleft type 11" EXACT [MONDORULE:2] xref: DOID:0080404 {source="MONDO:equivalentTo"} xref: GARD:18303 {source="MONDO:GARD"} xref: MEDGEN:436944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -244692,10 +244731,10 @@ subset: ordo_disorder {source="Orphanet:2224"} subset: orphanet_rare {source="Orphanet:2224"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial hypertryptophanemia" EXACT CLINGEN_LABEL [] -synonym: "hypertryptophanemia" BROAD [OMIM:600627, OMIM:genemap2] -synonym: "hypertryptophanemia, familial" RELATED [OMIM:600627] -synonym: "HYPTRP" RELATED ABBREVIATION [OMIM:600627] +synonym: "familial hypertryptophanemia" EXACT CLINGEN_LABEL [DOID:0111703] +synonym: "hypertryptophanemia" BROAD [] +synonym: "hypertryptophanemia, familial" RELATED [] +synonym: "HYPTRP" RELATED ABBREVIATION [] xref: DOID:0111703 {source="MONDO:equivalentTo"} xref: GARD:2871 {source="MONDO:GARD"} xref: ICD10CM:E70.8 {source="Orphanet:2224/attributed", source="Orphanet:2224/ntbt", source="Orphanet:2224"} @@ -244721,7 +244760,7 @@ subset: ordo_disorder {source="Orphanet:168"} subset: orphanet_rare {source="Orphanet:168"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "loose anagen hair syndrome" RELATED [OMIM:600628] +synonym: "loose anagen hair syndrome" RELATED [] xref: DOID:0111702 {source="MONDO:equivalentTo"} xref: GARD:3287 {source="MONDO:GARD"} xref: ICD10CM:L65.1 {source="Orphanet:168/attributed", source="Orphanet:168/ntbt", source="Orphanet:168"} @@ -244744,10 +244783,10 @@ subset: gard_rare {source="GARD:15320", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ERCC6 UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "UV-sensitive syndrome 1" EXACT [MONDO:Lexical, OMIM:600630] +synonym: "UV-sensitive syndrome 1" EXACT [MONDO:Lexical, NCIT:C173106, OMIM:600630] synonym: "UV-sensitive syndrome caused by mutation in ERCC6" EXACT [MONDO:design_pattern] -synonym: "UV-sensitive syndrome type 1" EXACT [MONDORULE:1, OMIM:600630] -synonym: "UVSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600630] +synonym: "UV-sensitive syndrome type 1" EXACT [MONDORULE:1] +synonym: "UVSS1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15320 {source="MONDO:GARD"} xref: MEDGEN:764087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C173106 {source="MONDO:equivalentTo"} @@ -244764,7 +244803,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0010910 name: enuresis, nocturnal, 1 def: "Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder." [] -synonym: "Bedwetting" RELATED [OMIM:600631] +synonym: "Bedwetting" RELATED [] synonym: "ENUR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600631] synonym: "enuresis, nocturnal, 1" EXACT [MONDO:Lexical, OMIM:600631] xref: OMIM:600631 {source="MONDO:equivalentTo"} @@ -244783,9 +244822,9 @@ subset: rare synonym: "familial prolactinoma" EXACT [DOID:5394] synonym: "Forbes-Albright syndrome (formerly)" RELATED [GARD:0004508] synonym: "lactotrope adenoma" EXACT [NCIT:C3342] -synonym: "lactotroph adenoma" EXACT [NCIT:C3342, Orphanet:2965] +synonym: "lactotroph adenoma" EXACT [Orphanet:2965] synonym: "lactotroph cell adenoma" EXACT [NCIT:C3342] -synonym: "pituitary adenoma, prolactin-secreting" EXACT [DOID:5394, OMIM:600634] +synonym: "pituitary adenoma, prolactin-secreting" EXACT [DOID:5394] synonym: "pituitary gland prolactinoma" EXACT [NCIT:C3342] synonym: "pituitary lactotrophic adenoma" EXACT [Orphanet:2965] synonym: "pituitary prolactinoma" EXACT [NCIT:C3342] @@ -244807,12 +244846,12 @@ synonym: "prolactin secreting pituitary adenoma" EXACT [NCIT:C3342] synonym: "prolactin secreting pituitary gland adenoma" EXACT [NCIT:C3342] synonym: "prolactin-producing pituitary gland adenoma" EXACT [NCIT:C3342] synonym: "prolactin-secreting pituitary adenoma" EXACT [Orphanet:2965] -synonym: "prolactinoma" EXACT [NCIT:C3342] +synonym: "prolactinoma" EXACT [DOID:5394, NCIT:C3342, Orphanet:2965] synonym: "prolactinoma of pituitary" EXACT [NCIT:C3342] synonym: "prolactinoma of pituitary gland" EXACT [DOID:5394, NCIT:C3342] synonym: "prolactinoma of the pituitary" EXACT [NCIT:C3342] synonym: "prolactinoma of the pituitary gland" EXACT [NCIT:C3342] -synonym: "prolactinoma, familial" RELATED [OMIM:600634] +synonym: "prolactinoma, familial" RELATED [] xref: DOID:5394 {source="MONDO:equivalentTo"} xref: EFO:1000496 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:4508 {source="MONDO:GARD"} @@ -244843,10 +244882,10 @@ def: "Any congenital fibrosis of extraocular muscles in which the cause of the d subset: gard_rare {source="GARD:15321", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CFEOM3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600638] +synonym: "CFEOM3A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "congenital fibrosis of extraocular muscles caused by mutation in TUBB3" EXACT [MONDO:design_pattern] -synonym: "Feom3 locus" RELATED [OMIM:600638] -synonym: "fibrosis of extraocular muscles, congenital, 3A" EXACT [OMIM:600638, OMIM:genemap2] +synonym: "Feom3 locus" RELATED [] +synonym: "fibrosis of extraocular muscles, congenital, 3A" EXACT [] synonym: "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement" EXACT [MONDO:Lexical, OMIM:600638] synonym: "TUBB3 congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081017 {source="MONDO:equivalentTo"} @@ -244877,7 +244916,7 @@ subset: orphanet_rare {source="Orphanet:53035"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Caroli disease isolated" RELATED [GARD:0006002] -synonym: "CAROLI disease, isolated" RELATED [OMIM:600643] +synonym: "CAROLI disease, isolated" RELATED [] synonym: "congenital polycystic dilatation of intrahepatic bile ducts" RELATED [GARD:0006002] synonym: "cystic dilatation of the intrahepatic biliary tree" RELATED [GARD:0006002] xref: DOID:0050876 {source="MONDO:equivalentTo"} @@ -244914,14 +244953,14 @@ subset: rare synonym: "Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form" EXACT [Orphanet:228305] synonym: "Carnitine palmitoyl transferase deficiency type 2, severe infantile form" EXACT [Orphanet:228305] synonym: "Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form" EXACT [Orphanet:228305] -synonym: "carnitine palmitoyl transferase II deficiency, severe infantile form" EXACT CLINGEN_LABEL [] -synonym: "Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia" RELATED [OMIM:600649] -synonym: "Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular" RELATED [OMIM:600649] -synonym: "Carnitine Palmitoyltransferase 2 deficiency, infantile" RELATED [OMIM:600649] -synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile" RELATED [OMIM:600649] -synonym: "CPT 2 deficiency, hepatic" RELATED [OMIM:600649] -synonym: "CPT II deficiency, infantile" EXACT [OMIM:600649, OMIM:genemap2] -synonym: "Cpt2 deficiency, infantile" RELATED [OMIM:600649] +synonym: "carnitine palmitoyl transferase II deficiency, severe infantile form" EXACT CLINGEN_LABEL [Orphanet:228305] +synonym: "Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia" RELATED [] +synonym: "Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular" RELATED [] +synonym: "Carnitine Palmitoyltransferase 2 deficiency, infantile" RELATED [] +synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile" RELATED [] +synonym: "CPT 2 deficiency, hepatic" RELATED [] +synonym: "CPT II deficiency, infantile" EXACT [] +synonym: "Cpt2 deficiency, infantile" RELATED [] synonym: "CPT2, hepatocardiomuscular form" EXACT [Orphanet:228305] synonym: "CPT2, severe infantile form" EXACT [Orphanet:228305] synonym: "CPTII, hepatocardiomuscular form" EXACT [Orphanet:228305] @@ -244945,15 +244984,15 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18100", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 4A" NARROW [DOID:0110573] -synonym: "autosomal dominant nonsyndromic deafness 4A" NARROW [OMIM:600652] +synonym: "autosomal dominant deafness 4A" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 4A" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYH14" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 4A" NARROW [DOID:0110573, MONDORULE:4] -synonym: "deafness, autosomal dominant 4" NARROW [OMIM:600652] -synonym: "deafness, autosomal dominant 4A" NARROW [MONDO:Lexical, OMIM:600652] -synonym: "deafness, autosomal dominant 4a" NARROW [OMIM:600652, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 4A" NARROW [MONDORULE:4, OMIM:600652] -synonym: "DFNA4A" NARROW ABBREVIATION [DOID:0110573, MONDO:Lexical, OMIM:600652] +synonym: "autosomal dominant nonsyndromic deafness type 4A" NARROW [MONDORULE:4] +synonym: "deafness, autosomal dominant 4" NARROW [] +synonym: "deafness, autosomal dominant 4A" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant 4a" NARROW [] +synonym: "deafness, autosomal dominant type 4A" NARROW [MONDORULE:4] +synonym: "DFNA4A" NARROW ABBREVIATION [MONDO:Lexical] synonym: "MYH14 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110573 {source="MONDO:equivalentTo"} xref: GARD:18100 {source="MONDO:GARD"} @@ -244978,18 +245017,19 @@ subset: gard_rare {source="GARD:18598", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Apkd3" EXACT [DOID:0110860] +synonym: "APKD3" EXACT ABBREVIATION [DOID:0110860] +synonym: "Apkd3" EXACT [] synonym: "autosomal dominant polycystic kidney disease caused by mutation in GANAB" EXACT [MONDO:design_pattern] synonym: "GANAB autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PKD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600666] -synonym: "Pkd3" EXACT [DOID:0110860] -synonym: "polycystic kidney disease 3" EXACT [OMIM:600666] +synonym: "PKD3" EXACT ABBREVIATION [DOID:0110860, MONDO:Lexical, OMIM:600666] +synonym: "Pkd3" EXACT [] +synonym: "polycystic kidney disease 3" EXACT [DOID:0110860] synonym: "polycystic kidney disease 3 with or without polycystic liver disease" EXACT CLINGEN_LABEL [OMIM:600666] -synonym: "polycystic kidney disease 3, autosomal dominant" EXACT [MONDO:Lexical, OMIM:600666] -synonym: "polycystic kidney disease type 3" EXACT [DOID:0110860, MONDORULE:1] +synonym: "polycystic kidney disease 3, autosomal dominant" EXACT [MONDO:Lexical] +synonym: "polycystic kidney disease type 3" EXACT [MONDORULE:1] synonym: "polycystic kidney disease, adult, type 3" EXACT [OMIM:600666] synonym: "polycystic kidney disease, adult, type III" EXACT [DOID:0110860] -synonym: "polycystic kidney disease, type 3" EXACT [OMIM:600666] +synonym: "polycystic kidney disease, type 3" EXACT [] xref: DOID:0110860 {source="MONDO:equivalentTo"} xref: GARD:18598 {source="MONDO:GARD"} xref: MEDGEN:854672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -245010,7 +245050,7 @@ subset: gard_rare {source="GARD:6048", source="MONDO:GARD"} subset: rare synonym: "CCAL1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600668] synonym: "chondrocalcinosis 1" EXACT [MONDO:Lexical, OMIM:600668] -synonym: "chondrocalcinosis with early-onset osteoarthritis" RELATED [OMIM:600668] +synonym: "chondrocalcinosis with early-onset osteoarthritis" RELATED [] xref: GARD:6048 {source="MONDO:GARD"} xref: MEDGEN:331527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535938 {source="MONDO:equivalentTo"} @@ -245024,9 +245064,9 @@ id: MONDO:0010918 name: epilepsy, idiopathic generalized, susceptibility to, 1 comment: The OMIM entries here are named generically, the same as the PS but it refers to a susceptibility conferred by a specific gene. subset: predisposition -synonym: "EIG" BROAD ABBREVIATION [MONDO:Lexical, OMIM:600669] -synonym: "EIG1" EXACT [OMIM:600669] -synonym: "epilepsy, idiopathic generalized, susceptibility to, 1" EXACT [OMIM:600669] +synonym: "EIG" BROAD ABBREVIATION [MONDO:Lexical] +synonym: "EIG1" EXACT [] +synonym: "epilepsy, idiopathic generalized, susceptibility to, 1" EXACT [] xref: ICD9:345.10 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:412636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562694 {source="MONDO:relatedTo"} @@ -245092,7 +245132,7 @@ subset: ordo_disorder {source="Orphanet:141103"} subset: ordo_morphological_anomaly {source="Orphanet:141103"} subset: orphanet_rare {source="Orphanet:141103"} subset: rare -synonym: "dermoid cysts, familial frontonasal" RELATED [OMIM:600679] +synonym: "dermoid cysts, familial frontonasal" RELATED [] synonym: "nasal dermoid sinus cyst" EXACT [Orphanet:141103] xref: GARD:16970 {source="MONDO:GARD"} xref: ICD10CM:Q18.8 {source="Orphanet:141103", source="Orphanet:141103/ntbt"} @@ -245118,8 +245158,8 @@ subset: rare synonym: "Komuragaeri disease" EXACT [OMIM:600705, Orphanet:3130] synonym: "muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities" RELATED [GARD:0000160] synonym: "muscle spasms, intermittent with alopecia, diarrhoea and skeletal abnormalities" RELATED OMO:0003005 [] -synonym: "muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities" RELATED [OMIM:600705] -synonym: "Satoyoshi syndrome" EXACT [OMIM:600705] +synonym: "muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities" RELATED [] +synonym: "Satoyoshi syndrome" EXACT [OMIM:600705, Orphanet:3130] xref: GARD:160 {source="MONDO:GARD"} xref: MedDRA:10070579 {source="Orphanet:3130/e", source="Orphanet:3130"} xref: MEDGEN:318882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -245141,7 +245181,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:521305"} subset: orphanet_rare {source="Orphanet:521305"} subset: rare -synonym: "proximal myopathy with focal depletion of mitochondria" EXACT [OMIM:600706] +synonym: "proximal myopathy with focal depletion of mitochondria" EXACT [OMIM:600706, Orphanet:521305] xref: GARD:17956 {source="MONDO:GARD"} xref: MEDGEN:318881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563453 {source="MONDO:equivalentTo"} @@ -245163,12 +245203,12 @@ subset: orphanet_rare {source="Orphanet:79315"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "D-2-HGA" EXACT [Orphanet:79315] +synonym: "D-2-HGA" EXACT ABBREVIATION [Orphanet:79315] synonym: "D-2-hydroxyglutaric acidemia" EXACT [Orphanet:79315] -synonym: "D-2-hydroxyglutaric aciduria 1" RELATED [MONDO:Lexical, OMIM:600721] -synonym: "D-2-hydroxyglutaric aciduria type 1" EXACT [MONDORULE:1, OMIM:600721] +synonym: "D-2-hydroxyglutaric aciduria 1" RELATED [MONDO:Lexical] +synonym: "D-2-hydroxyglutaric aciduria type 1" EXACT [MONDORULE:1] synonym: "D2HA" RELATED ABBREVIATION [GARD:0005661] -synonym: "D2HGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600721] +synonym: "D2HGA" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050575 {source="MONDO:equivalentTo"} xref: GARD:5661 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:79315", source="Orphanet:79315/attributed", source="Orphanet:79315/ntbt"} @@ -245191,7 +245231,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:3424"} subset: orphanet_rare {source="Orphanet:3424"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "VELOFACIOSKELETAL syndrome" RELATED [OMIM:600736] +synonym: "VELOFACIOSKELETAL syndrome" RELATED [] xref: GARD:5469 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:3424/attributed", source="Orphanet:3424/ntbt", source="Orphanet:3424"} xref: MEDGEN:322177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -245213,19 +245253,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AP2S1 familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial benign hypercalcemia, Oklahoma variant" RELATED [GARD:0002878] -synonym: "familial benign hypercalcemia, type 3" RELATED [OMIM:600740] +synonym: "familial benign hypercalcemia, type 3" RELATED [] synonym: "familial hypocalciuric hypercalcemia caused by mutation in AP2S1" EXACT [MONDO:design_pattern] -synonym: "familial hypocalciuric hypercalcemia type 3" EXACT [DOID:0060702, MONDORULE:1] +synonym: "familial hypocalciuric hypercalcemia type 3" EXACT [DOID:0060702, MONDORULE:1, Orphanet:101050] synonym: "FBH3" RELATED ABBREVIATION [GARD:0002878] synonym: "FBHOk" RELATED [GARD:0002878] synonym: "FHH type 3" EXACT [DOID:0060702, Orphanet:101050] synonym: "HHC3" EXACT ABBREVIATION [DOID:0060702, MONDO:Lexical, OMIM:600740] -synonym: "hpocalciuric hypercalcemia, type III" EXACT [OMIM:600740, OMIM:genemap2] -synonym: "hypercalcemia, familial benign, Oklahoma type" RELATED [OMIM:600740] -synonym: "hypercalcemia, familial benign, type 3" RELATED [OMIM:600740] +synonym: "hpocalciuric hypercalcemia, type III" EXACT [] +synonym: "hypercalcemia, familial benign, Oklahoma type" RELATED [] +synonym: "hypercalcemia, familial benign, type 3" RELATED [] synonym: "hypocalciuric hypercalcemia type III" EXACT [DOID:0060702] -synonym: "hypocalciuric hypercalcemia, familial, type 3" RELATED [GARD:0002878, OMIM:600740] -synonym: "hypocalciuric hypercalcemia, familial, type III" RELATED [MONDO:Lexical, OMIM:600740] +synonym: "hypocalciuric hypercalcemia, familial, type 3" RELATED [GARD:0002878] +synonym: "hypocalciuric hypercalcemia, familial, type III" RELATED [MONDO:Lexical] xref: DOID:0060702 {source="MONDO:equivalentTo"} xref: GARD:2878 {source="MONDO:GARD"} xref: ICD10CM:E83.5 {source="Orphanet:101050", source="DOID:0060702", source="Orphanet:101050/attributed", source="Orphanet:101050/ntbt"} @@ -245246,9 +245286,9 @@ id: MONDO:0010927 name: orofacial cleft 3 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "cleft lip with or without cleft palate, nonsyndromic, 3" RELATED [OMIM:600757] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 3" RELATED [] synonym: "OFC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600757] -synonym: "orofacial cleft 3" EXACT [MONDO:Lexical, OMIM:600757] +synonym: "orofacial cleft 3" EXACT [DOID:0080397, MONDO:Lexical, OMIM:600757] xref: DOID:0080397 {source="MONDO:equivalentTo"} xref: MEDGEN:318860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563448 {source="MONDO:equivalentTo"} @@ -245283,8 +245323,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "craniosynostosis 4" EXACT [MONDO:Lexical, OMIM:600775] synonym: "craniosynostosis caused by mutation in ERF" EXACT [MONDO:design_pattern] -synonym: "craniosynostosis type 4" EXACT [MONDORULE:1, OMIM:600775] -synonym: "CRS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600775] +synonym: "craniosynostosis type 4" EXACT [MONDORULE:1] +synonym: "CRS4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ERF craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ERF-related craniosynostosis" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40059/, PMID:23354439] xref: MEDGEN:322167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -245314,7 +245354,7 @@ subset: orphanet_rare {source="Orphanet:1104"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder" RELATED [GARD:0000719] -synonym: "anophthalmia-plus syndrome" RELATED [OMIM:600776] +synonym: "anophthalmia-plus syndrome" RELATED [] synonym: "Fryns anophthalmia syndrome" RELATED [GARD:0000719] synonym: "Fryns microphthalmia syndrome" EXACT [GARD:0000719, OMIM:600776, Orphanet:1104] synonym: "Leichtman Wood Rohn syndrome" RELATED [GARD:0000719] @@ -245340,13 +245380,13 @@ subset: gard_rare {source="GARD:18170", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia" EXACT [NCIT:C131076] -synonym: "VDDR2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600785] +synonym: "VDDR2B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "vitamin D dependent rickets 2b" EXACT [NCIT:C131076] synonym: "vitamin D receptor signaling defect rickets" EXACT [NCIT:C131076] synonym: "vitamin D receptor signalling defect rickets" EXACT OMO:0003005 [] synonym: "vitamin D resistant rickets" EXACT [NCIT:C131076] synonym: "vitamin D-dependent rickets type II without alopecia" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "vitamin D-dependent rickets, type 2B, with normal vitamin D receptor" RELATED [MONDO:Lexical, OMIM:600785] +synonym: "vitamin D-dependent rickets, type 2B, with normal vitamin D receptor" RELATED [MONDO:Lexical] xref: DOID:0080885 {source="MONDO:equivalentTo"} xref: GARD:18170 {source="MONDO:GARD"} xref: MEDGEN:411667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -245371,11 +245411,11 @@ subset: ordo_disorder {source="Orphanet:75373"} subset: orphanet_rare {source="Orphanet:75373"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chorioretinal atrophy, progressive bifocal" RELATED [OMIM:600790] +synonym: "chorioretinal atrophy, progressive bifocal" RELATED [] synonym: "CRAPB" EXACT ABBREVIATION [Orphanet:75373] -synonym: "Crapb" RELATED [OMIM:600790] -synonym: "PBCRA" EXACT ABBREVIATION [Orphanet:75373] -synonym: "progressive bifocal chorioretinal atrophy" EXACT [OMIM:600790] +synonym: "Crapb" RELATED [] +synonym: "PBCRA" EXACT ABBREVIATION [OMIM:600790, Orphanet:75373] +synonym: "progressive bifocal chorioretinal atrophy" EXACT [icd11.foundation:1936121929, OMIM:600790, Orphanet:75373] xref: GARD:10123 {source="MONDO:GARD"} xref: icd11.foundation:1936121929 {source="MONDO:equivalentTo"} xref: MEDGEN:371537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -245395,15 +245435,15 @@ subset: gard_rare {source="GARD:22584", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive deafness 4 with enlarged vestibular aqueduct" NARROW [DOID:0110498] -synonym: "autosomal recessive nonsyndromic deafness 4" NARROW [OMIM:600791] -synonym: "autosomal recessive nonsyndromic deafness type 4" NARROW [DOID:0110498, MONDORULE:1] -synonym: "deafness, autosomal recessive 4, with enlarged vestibular aqueduct" NARROW [MONDO:Lexical, OMIM:600791, OMIM:genemap2] -synonym: "DFNB4" NARROW ABBREVIATION [DOID:0110498, MONDO:Lexical, OMIM:600791] -synonym: "dilated vestibular aqueduct" RELATED [OMIM:600791] -synonym: "enlarged vestibular aqueduct" EXACT [OMIM:600791, OMIM:genemap2] -synonym: "enlarged vestibular aqueduct, digenic" EXACT [OMIM:600791, OMIM:genemap2] -synonym: "neurosensory nonsyndromic recessive deafness 4" NARROW [OMIM:600791] +synonym: "autosomal recessive deafness 4 with enlarged vestibular aqueduct" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 4" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 4" NARROW [MONDORULE:1] +synonym: "deafness, autosomal recessive 4, with enlarged vestibular aqueduct" NARROW [MONDO:Lexical] +synonym: "DFNB4" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "dilated vestibular aqueduct" RELATED [] +synonym: "enlarged vestibular aqueduct" EXACT [] +synonym: "enlarged vestibular aqueduct, digenic" EXACT [] +synonym: "neurosensory nonsyndromic recessive deafness 4" NARROW [] xref: DOID:0110498 {source="MONDO:equivalentTo"} xref: GARD:22584 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110498"} @@ -245439,17 +245479,17 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15322", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ALS17" RELATED EXCLUDE [DOID:0060208, MONDO:Lexical, OMIM:614696] -synonym: "amyotrophic lateral sclerosis 17" RELATED EXCLUDE [DOID:0060208, MONDO:Lexical, OMIM:614696] +synonym: "ALS17" RELATED EXCLUDE [MONDO:Lexical] +synonym: "amyotrophic lateral sclerosis 17" RELATED EXCLUDE [MONDO:Lexical] synonym: "amyotrophic lateral sclerosis caused by mutation in CHMP2B" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis type 17" RELATED EXCLUDE [MONDORULE:2, OMIM:614696] -synonym: "amyotrophic lateral sclerosis, Chmp2B-related" EXACT [OMIM:614696] +synonym: "amyotrophic lateral sclerosis type 17" RELATED EXCLUDE [MONDORULE:2] +synonym: "amyotrophic lateral sclerosis, Chmp2B-related" EXACT [OMIM:600795] synonym: "CHMP2B amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "CHMP2B-related amyotrophic lateral sclerosis" EXACT [DOID:0060208, OMIM:614696] -synonym: "dementia, familial nonspecific" RELATED [OMIM:600795] -synonym: "Dmt1" RELATED [OMIM:600795] +synonym: "CHMP2B-related amyotrophic lateral sclerosis" EXACT [] +synonym: "dementia, familial nonspecific" RELATED [] +synonym: "Dmt1" RELATED [] synonym: "frontotemporal dementia, chromosome 3-linked" EXACT [MONDO:Lexical, OMIM:600795] -synonym: "FTD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600795] +synonym: "FTD3" EXACT ABBREVIATION [DOID:0111227, MONDO:Lexical] xref: DOID:0060208 {source="MONDO:equivalentObsolete"} xref: DOID:0111227 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:15322 {source="MONDO:GARD"} @@ -245492,12 +245532,12 @@ subset: ordo_disorder {source="Orphanet:35078"} subset: orphanet_rare {source="Orphanet:35078"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCID, autosomal recessive, T-negative/B-positive type" EXACT [OMIM:600802, OMIM:genemap2] -synonym: "SCID, T cell-negative, B cell-positive, NK cell-negative" RELATED [OMIM:600802] +synonym: "SCID, autosomal recessive, T-negative/B-positive type" EXACT [] +synonym: "SCID, T cell-negative, B cell-positive, NK cell-negative" RELATED [] synonym: "severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency" RELATED [] -synonym: "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE" RELATED [OMIM:600802] +synonym: "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE" RELATED [] synonym: "T-B+ SCID due to JAK3 deficiency" EXACT [Orphanet:35078] -synonym: "T-B+ severe combined immunodeficiency due to JAK3 deficiency" EXACT CLINGEN_LABEL [] +synonym: "T-B+ severe combined immunodeficiency due to JAK3 deficiency" EXACT CLINGEN_LABEL [Orphanet:35078] synonym: "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency" EXACT [] xref: GARD:16632 {source="MONDO:GARD"} xref: ICD10CM:D81.2 {source="Orphanet:35078", source="Orphanet:35078/attributed", source="Orphanet:35078/ntbt"} @@ -245524,12 +245564,12 @@ subset: ordo_disorder {source="Orphanet:69663"} subset: orphanet_rare {source="Orphanet:69663"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ABCB4 gene mutation-associated cholelithiasis" EXACT [Orphanet:69663] -synonym: "cholelithiasis with ABCB4 gene mutation" EXACT [Orphanet:69663] -synonym: "cholelithiasis, Low phospholipid-associated" RELATED [OMIM:600803] -synonym: "gallbladder disease 1" RELATED [MONDO:Lexical, OMIM:600803] -synonym: "gallbladder disease type 1" EXACT [MONDORULE:1, OMIM:600803] -synonym: "GBD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600803] +synonym: "ABCB4 gene mutation-associated cholelithiasis" EXACT [] +synonym: "cholelithiasis with ABCB4 gene mutation" EXACT [] +synonym: "cholelithiasis, Low phospholipid-associated" RELATED [] +synonym: "gallbladder disease 1" RELATED [MONDO:Lexical] +synonym: "gallbladder disease type 1" EXACT [MONDORULE:1] +synonym: "GBD1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "LPAC" EXACT ABBREVIATION [Orphanet:69663] xref: GARD:16683 {source="MONDO:GARD"} xref: icd11.foundation:1261516421 {source="MONDO:equivalentTo"} @@ -245548,12 +245588,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0010940 name: inherited susceptibility to asthma subset: predisposition -synonym: "asthma, bronchial" RELATED [OMIM:600807] -synonym: "asthma, diminished response to Antileukotriene treatment 1N" RELATED [OMIM:600807] -synonym: "asthma, nocturnal, susceptibility to" EXACT [OMIM:600807, OMIM:genemap2] -synonym: "asthma, protection against" RELATED [OMIM:600807] -synonym: "asthma, susceptibility to" RELATED [OMIM:600807] -synonym: "asthma-related traits, susceptibility to" RELATED [OMIM:600807] +synonym: "asthma, bronchial" RELATED [] +synonym: "asthma, diminished response to Antileukotriene treatment 1N" RELATED [] +synonym: "asthma, nocturnal, susceptibility to" EXACT [] +synonym: "asthma, protection against" RELATED [] +synonym: "asthma, susceptibility to" RELATED [] +synonym: "asthma-related traits, susceptibility to" RELATED [] xref: MEDGEN:358271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2100031 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NANDO:2200197 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -245568,8 +245608,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010941 name: nocturnal enuresis, 2 def: "Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred." [] -synonym: "ENUR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600808] -synonym: "enuresis, nocturnal, 2" RELATED [MONDO:Lexical, OMIM:600808] +synonym: "ENUR2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "enuresis, nocturnal, 2" RELATED [MONDO:Lexical] xref: MEDGEN:331473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563439 {source="MONDO:equivalentTo"} xref: OMIM:600808 {source="MONDO:equivalentTo"} @@ -245580,10 +245620,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0010942 name: obsolete eukaryotic translation elongation factor 1 alpha-1-like 14 -synonym: "EEF1A1L14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600841] -synonym: "eukaryotic translation elongation factor 1 ALPHA-1-like 14" RELATED [MONDO:Lexical, OMIM:600841] -synonym: "eukaryotic translation elongation Factor 1 Alpha-1-like type 14" EXACT [MONDORULE:2, OMIM:600841] -synonym: "prostatic carcinoma tumor-inducing Gene 1" RELATED [OMIM:600841] +synonym: "EEF1A1L14" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "eukaryotic translation elongation factor 1 ALPHA-1-like 14" RELATED [MONDO:Lexical] +synonym: "eukaryotic translation elongation Factor 1 Alpha-1-like type 14" EXACT [MONDORULE:2] +synonym: "prostatic carcinoma tumor-inducing Gene 1" RELATED [] xref: OMIM:600841 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -245591,10 +245631,10 @@ is_obsolete: true id: MONDO:0010943 name: schizophrenia 4 def: "A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21." [DOID:0070080] -synonym: "schizophrenia 4" EXACT [MONDO:Lexical, OMIM:600850] -synonym: "schizophrenia susceptibility locus, chromosome 22Q11-related" RELATED [OMIM:600850] -synonym: "schizophrenia type 4" EXACT [MONDORULE:1, OMIM:600850] -synonym: "schizophrenia, susceptibility to, 4" EXACT [OMIM:600850, OMIM:genemap2] +synonym: "schizophrenia 4" EXACT [DOID:0070080, MONDO:Lexical, OMIM:600850] +synonym: "schizophrenia susceptibility locus, chromosome 22Q11-related" RELATED [] +synonym: "schizophrenia type 4" EXACT [MONDORULE:1] +synonym: "schizophrenia, susceptibility to, 4" EXACT [] synonym: "SCZD4" EXACT ABBREVIATION [DOID:0070080, MONDO:Lexical, OMIM:600850] xref: DOID:0070080 {source="MONDO:equivalentTo"} xref: MEDGEN:371517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -245610,7 +245650,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010944 name: mitochondrial import-stimulating factor synonym: "mitochondrial import-stimulating factor" EXACT [OMIM:600851] -synonym: "MSF" RELATED ABBREVIATION [OMIM:600851] +synonym: "MSF" RELATED ABBREVIATION [] xref: MEDGEN:331468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600851 {source="MONDO:equivalentTo"} xref: UMLS:C1833246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331468"} @@ -245624,9 +245664,9 @@ subset: gard_rare {source="GARD:10387", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CA4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 17" EXACT [MONDO:Lexical, OMIM:600852] +synonym: "retinitis pigmentosa 17" EXACT [DOID:0110404, MONDO:Lexical, OMIM:600852] synonym: "retinitis pigmentosa caused by mutation in CA4" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 17" EXACT [DOID:0110404, MONDORULE:2, OMIM:600852] +synonym: "retinitis pigmentosa type 17" EXACT [MONDORULE:2] synonym: "RP 17" RELATED [GARD:0010387] synonym: "RP17" EXACT ABBREVIATION [DOID:0110404, MONDO:Lexical, OMIM:600852] xref: DOID:0110404 {source="MONDO:equivalentTo"} @@ -245650,13 +245690,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy, familial hypertrophic 6" EXACT [DOID:0110312] -synonym: "cardiomyopathy, familial hypertrophic, 6" RELATED [MONDO:Lexical, OMIM:600858] -synonym: "cardiomyopathy, familial hypertrophic, type 6" EXACT [MONDORULE:1, OMIM:600858] -synonym: "cardiomyopathy, hypertrophic 6" EXACT [OMIM:600858, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 6" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 6" EXACT [MONDORULE:1] +synonym: "cardiomyopathy, hypertrophic 6" EXACT [] synonym: "CMH6" EXACT ABBREVIATION [DOID:0110312, MONDO:Lexical, OMIM:600858] -synonym: "hypertrophic cardiomyopathy 6" EXACT CLINGEN_LABEL [] +synonym: "hypertrophic cardiomyopathy 6" EXACT CLINGEN_LABEL [DOID:0110312] synonym: "hypertrophic cardiomyopathy caused by mutation in PRKAG2" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 6" EXACT [DOID:0110312, MONDORULE:1] +synonym: "hypertrophic cardiomyopathy type 6" EXACT [MONDORULE:1] synonym: "PRKAG2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110312 {source="MONDO:equivalentTo"} xref: MEDGEN:331466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -245682,10 +245722,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:131"} subset: orphanet_rare {source="Orphanet:131"} subset: rare -synonym: "BDCHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600880] -synonym: "Budd-Chiari syndrome" EXACT [MONDO:Lexical, OMIM:600880] -synonym: "Budd-Chiari syndrome, somatic" EXACT [OMIM:600880, OMIM:genemap2] -synonym: "membranous obstruction of Inferior vena cava" RELATED [OMIM:600880] +synonym: "BDCHS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Budd-Chiari syndrome" EXACT [ICD10CM:I82.0, icd11.foundation:1300118676, MONDO:Lexical, OMIM:600880, Orphanet:131] +synonym: "Budd-Chiari syndrome, somatic" EXACT [] +synonym: "membranous obstruction of Inferior vena cava" RELATED [] synonym: "membranous obstruction of the inferior vena cava" RELATED [GARD:0005968] xref: GARD:5968 {source="MONDO:GARD"} xref: ICD10CM:I82.0 {source="Orphanet:131/e", source="MONDO:equivalentTo", source="Orphanet:131"} @@ -245711,8 +245751,8 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 10, multiple types" RELATED [MONDO:Lexical, OMIM:600881] -synonym: "cataract, congenital zonular, with sutural opacities" RELATED [OMIM:600881] +synonym: "cataract 10, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract, congenital zonular, with sutural opacities" RELATED [] synonym: "CCZS" NARROW ABBREVIATION [DOID:0110258] synonym: "congenital zonular cataract with sutural opacities" NARROW [DOID:0110258] synonym: "CRYBA1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -245743,22 +245783,22 @@ subset: ordo_disorder {source="Orphanet:99936"} subset: orphanet_rare {source="Orphanet:99936"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2B" EXACT [DOID:0110159] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2B" EXACT [DOID:0110159, Orphanet:99936] synonym: "Charcot Marie Tooth disease type 2B" RELATED [GARD:0009192] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2B" RELATED [OMIM:600882] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2B" RELATED [GARD:0009192, MONDO:Lexical, OMIM:600882] +synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2B" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2B" RELATED [GARD:0009192, MONDO:Lexical] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B" RELATED [GARD:0009192] -synonym: "Charcot-Marie-Tooth disease, type 2B" EXACT [OMIM:600882, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, type 2B" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2B" EXACT [DOID:0110159] -synonym: "Charcot-Marie-Tooth neuropathy, type 2B" RELATED [OMIM:600882] +synonym: "Charcot-Marie-Tooth neuropathy, type 2B" RELATED [] synonym: "CMT 2B" RELATED [GARD:0009192] synonym: "CMT2B" EXACT ABBREVIATION [DOID:0110159, MONDO:Lexical, OMIM:600882, Orphanet:99936] synonym: "hereditary motor and sensory neuropathy 2 B (HMSN 2 B)" RELATED [GARD:0009192] -synonym: "hereditary motor and sensory neuropathy 2B" RELATED [OMIM:600882] +synonym: "hereditary motor and sensory neuropathy 2B" RELATED [] synonym: "hereditary motor and sensory nueropathy IIB" EXACT [DOID:0110159] -synonym: "HMSN IIB" EXACT [DOID:0110159] -synonym: "HMSN2B" EXACT ABBREVIATION [DOID:0110159, OMIM:600882] +synonym: "HMSN IIB" EXACT ABBREVIATION [DOID:0110159] +synonym: "HMSN2B" EXACT ABBREVIATION [DOID:0110159] synonym: "peripheral sensory neuropathy, autosomal dominant (PSN)" RELATED [GARD:0009192] synonym: "RAB7A Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110159 {source="MONDO:equivalentTo"} @@ -245783,8 +245823,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9192/charcot id: MONDO:0010950 name: type 1 diabetes mellitus 8 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27." [DOID:0110747, MONDO:patterns/inherited_susceptibility, PMID:7573053] -synonym: "diabetes mellitus, insulin-dependent, 8" RELATED [MONDO:Lexical, OMIM:600883] -synonym: "IDDM8" EXACT ABBREVIATION [DOID:0110747, MONDO:Lexical, OMIM:600883] +synonym: "diabetes mellitus, insulin-dependent, 8" RELATED [MONDO:Lexical] +synonym: "IDDM8" EXACT ABBREVIATION [DOID:0110747, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 8" EXACT [DOID:0110747, OMIM:600883] xref: DOID:0110747 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110747"} @@ -245805,12 +245845,12 @@ def: "A dilated cardiomyopathy that has material basis in variation in the chrom subset: gard_rare {source="GARD:15323", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated 1B" EXACT [OMIM:600884, OMIM:genemap2] -synonym: "cardiomyopathy, dilated, 1B" RELATED [MONDO:Lexical, OMIM:600884] -synonym: "cardiomyopathy, familial dilated" RELATED [OMIM:600884] -synonym: "cardiomyopathy, familial dilated, 1" RELATED [OMIM:600884] -synonym: "CMD1B" RELATED EXCLUDE [DOID:0110443, MONDO:Lexical, OMIM:600884] -synonym: "dilated cardiomyopathy type 1B" EXACT [DOID:0110443, MONDORULE:4] +synonym: "cardiomyopathy, dilated 1B" EXACT [] +synonym: "cardiomyopathy, dilated, 1B" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial dilated" RELATED [] +synonym: "cardiomyopathy, familial dilated, 1" RELATED [] +synonym: "CMD1B" RELATED EXCLUDE [MONDO:Lexical] +synonym: "dilated cardiomyopathy type 1B" EXACT [MONDORULE:4] xref: DOID:0110443 {source="MONDO:equivalentTo"} xref: GARD:15323 {source="MONDO:GARD"} xref: ICD10CM:I42.0 {source="DOID:0110443"} @@ -245830,17 +245870,17 @@ subset: ordo_disorder {source="Orphanet:163"} subset: orphanet_rare {source="Orphanet:163"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bonneau-Beaumont syndrome" EXACT [Orphanet:163] +synonym: "Bonneau-Beaumont syndrome" EXACT [DOID:0111256] synonym: "cataract-hyperferritinemia syndrome" RELATED [GARD:0002806] synonym: "hereditary hyperferritinemia cataract syndrome" RELATED [GARD:0002806] -synonym: "hereditary hyperferritinemia-cataract syndrome" EXACT [Orphanet:163] -synonym: "HHCS" EXACT ABBREVIATION [Orphanet:163] -synonym: "HRFTC" RELATED ABBREVIATION [OMIM:600886] +synonym: "hereditary hyperferritinemia-cataract syndrome" EXACT [DOID:0111256, Orphanet:163] +synonym: "HHCS" EXACT ABBREVIATION [DOID:0111256, Orphanet:163] +synonym: "HRFTC" RELATED ABBREVIATION [] synonym: "Hyperferritinemia Cataract Syndrome" EXACT [NORD:1264] synonym: "hyperferritinemia cataract syndrome" RELATED [GARD:0002806] -synonym: "hyperferritinemia with or without cataract" RELATED [OMIM:600886] -synonym: "hyperferritinemia, hereditary, with congenital cataracts" RELATED [OMIM:600886] -synonym: "hyperferritinemia-cataract syndrome" RELATED [OMIM:600886] +synonym: "hyperferritinemia with or without cataract" RELATED [] +synonym: "hyperferritinemia, hereditary, with congenital cataracts" RELATED [] +synonym: "hyperferritinemia-cataract syndrome" RELATED [] xref: DOID:0111256 {source="MONDO:equivalentTo"} xref: GARD:2806 {source="MONDO:GARD"} xref: ICD10CM:H26.0 {source="Orphanet:163/attributed", source="Orphanet:163/ntbt", source="Orphanet:163"} @@ -245867,17 +245907,18 @@ subset: gard_rare {source="GARD:15324", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "face" EXACT [DOID:0111084, OMIM:600901] +synonym: "FACE" EXACT ABBREVIATION [DOID:0111084] +synonym: "face" EXACT [OMIM:600901] synonym: "FANCE" EXACT ABBREVIATION [DOID:0111084, MONDO:Lexical, OMIM:600901] synonym: "FANCE Fanconi anaemia" EXACT OMO:0003005 [] synonym: "FANCE Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Fanconi anaemia caused by mutation in FANCE" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type E" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in FANCE" EXACT [MONDO:design_pattern] -synonym: "Fanconi anemia complementation group E" EXACT CLINGEN_LABEL [] -synonym: "Fanconi anemia complementation group type E" EXACT [DOID:0111084, MONDORULE:1] -synonym: "Fanconi anemia, complementation group E" RELATED [MONDO:Lexical, OMIM:600901] -synonym: "Fanconi Anemia, complementation group type E" EXACT [MONDORULE:1, OMIM:600901] +synonym: "Fanconi anemia complementation group E" EXACT CLINGEN_LABEL [DOID:0111084] +synonym: "Fanconi anemia complementation group type E" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group E" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type E" EXACT [MONDORULE:1] xref: DOID:0111084 {source="MONDO:equivalentTo"} xref: GARD:15324 {source="MONDO:GARD"} xref: MEDGEN:463628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -245895,7 +245936,7 @@ id: MONDO:0010954 name: Wiskott-Aldrich syndrome, autosomal dominant form subset: gard_rare {source="GARD:15325", source="MONDO:GARD"} subset: rare -synonym: "Wiskott-Aldrich syndrome, autosomal dominant form" EXACT [OMIM:600903] +synonym: "Wiskott-Aldrich syndrome, autosomal dominant form" EXACT [] xref: GARD:15325 {source="MONDO:GARD"} xref: MEDGEN:1783558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563431 {source="MONDO:equivalentTo"} @@ -245909,7 +245950,7 @@ id: MONDO:0010955 name: ectodermal dysplasia with intellectual disability and syndactyly synonym: "ectodermal dysplasia intellectual disability syndactyly" RELATED [GARD:0002052] synonym: "ectodermal dysplasia mental retardation syndactyly" RELATED DEPRECATED [GARD:0002052] -synonym: "ectodermal dysplasia with intellectual disability and syndactyly" EXACT [OMIM:600906] +synonym: "ectodermal dysplasia with intellectual disability and syndactyly" EXACT [] synonym: "ectodermal dysplasia with mental retardation and syndactyly" EXACT DEPRECATED [OMIM:600906] xref: MEDGEN:322135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538018 {source="MONDO:equivalentTo"} @@ -245943,9 +245984,9 @@ name: cardiac arrhythmia, ankyrin-B-related comment: Editor note: we follow OMIM in making LQT4 and ANK2-related cardiac arrhythmia to be equivalent subset: gard_rare {source="GARD:10432", source="MONDO:GARD"} subset: rare -synonym: "ankyrin-B syndrome" EXACT [OMIM:600919] +synonym: "ankyrin-B syndrome" EXACT [DOID:0111700, OMIM:600919] synonym: "cardiac arrhythmia, ankyrin-b-related" EXACT [OMIM:600919] -synonym: "LQT4" RELATED ABBREVIATION [GARD:0010432, OMIM:600919] +synonym: "LQT4" RELATED ABBREVIATION [GARD:0010432] xref: DOID:0111700 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0111701 {source="MONDO:equivalentTo"} xref: GARD:10432 {source="MONDO:GARD"} @@ -245970,15 +246011,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:2460"} subset: orphanet_rare {source="Orphanet:2460"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "blepharophimosis, arachnodactyly, and congenital contractures" RELATED [OMIM:600920] +synonym: "blepharophimosis, arachnodactyly, and congenital contractures" RELATED [] synonym: "Marden Walker like syndrome" RELATED [GARD:0003382] synonym: "Marden Walker like syndrome without psychomotor retardation" RELATED [GARD:0003382] -synonym: "Marden-Walker-like syndrome" EXACT [Orphanet:2460] -synonym: "Marden-Walker-like syndrome without psychomotor retardation" RELATED [OMIM:600920] +synonym: "Marden-Walker-like syndrome" EXACT [DOID:0111699, Orphanet:2460] +synonym: "Marden-Walker-like syndrome without psychomotor retardation" RELATED [] synonym: "Van den Ende Gupta syndrome" RELATED [GARD:0003382] -synonym: "VAN DEN Ende-Gupta syndrome" RELATED [OMIM:600920] -synonym: "van den Ende-Gupta syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:600920] -synonym: "VDEGS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600920, Orphanet:2460] +synonym: "VAN DEN Ende-Gupta syndrome" RELATED [] +synonym: "van den Ende-Gupta syndrome" EXACT CLINGEN_LABEL [DOID:0111699, icd11.foundation:1740735985, MONDO:Lexical, OMIM:600920, Orphanet:2460] +synonym: "VDEGS" EXACT ABBREVIATION [DOID:0111699, MONDO:Lexical, OMIM:600920, Orphanet:2460] xref: DOID:0111699 {source="MONDO:equivalentTo"} xref: GARD:3382 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:2460/attributed", source="Orphanet:2460/ntbt", source="Orphanet:2460"} @@ -245997,9 +246038,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0010960 name: protocadherin 3 -synonym: "Pcdh3" RELATED [OMIM:600931] +synonym: "Pcdh3" RELATED [] synonym: "protocadherin 3" EXACT [OMIM:600931] -synonym: "protocadherin type 3" EXACT [MONDORULE:1, OMIM:600931] +synonym: "protocadherin type 3" EXACT [MONDORULE:1] xref: MEDGEN:371487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600931 {source="MONDO:equivalentTo"} xref: UMLS:C1833117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:371487"} @@ -246014,11 +246055,11 @@ subset: nord_rare {source="NORD:109523", source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:71528"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "obesity and endocrinopathy due to impaired processing of prohormones" RELATED [OMIM:600955] -synonym: "obesity with impaired prohormone processing" EXACT [OMIM:600955, OMIM:genemap2] -synonym: "PCI deficiency" EXACT [Orphanet:71528] +synonym: "obesity and endocrinopathy due to impaired processing of prohormones" RELATED [] +synonym: "obesity with impaired prohormone processing" EXACT [DOID:0111698] +synonym: "PCI deficiency" EXACT [DOID:0111698, Orphanet:71528] synonym: "PCSK1 Deficiency" EXACT [NORD:109523] -synonym: "proprotein convertase 1/3 deficiency" RELATED [OMIM:600955] +synonym: "proprotein convertase 1/3 deficiency" RELATED [] xref: DOID:0111698 {source="MONDO:equivalentTo"} xref: GARD:16689 {source="MONDO:GARD"} xref: ICD10CM:E66.8 {source="Orphanet:71528/attributed", source="Orphanet:71528/ntbt", source="Orphanet:71528"} @@ -246046,24 +246087,24 @@ subset: ordo_disorder {source="Orphanet:530838"} subset: ordo_inheritance_inconsistent subset: orphanet_rare {source="Orphanet:530838"} subset: rare -synonym: "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type" NARROW [Orphanet:2337] +synonym: "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type" NARROW [] synonym: "diffuse NEPPK" RELATED [GARD:0005186] -synonym: "diffuse nonepidermolytic palmoplantar keratoderma" EXACT [DOID:0050428, GARD:0005186] -synonym: "diffuse palmoplantar keratoderma, Bothnian type" EXACT [Orphanet:2337] -synonym: "keratoderma, nonepidermolytic palmoplantar" RELATED [OMIM:600962] +synonym: "diffuse nonepidermolytic palmoplantar keratoderma" EXACT [GARD:0005186] +synonym: "diffuse palmoplantar keratoderma, Bothnian type" EXACT [] +synonym: "keratoderma, nonepidermolytic palmoplantar" RELATED [] synonym: "KRT1-related diffuse nonepidermolytic keratoderma" EXACT [Orphanet:530838] -synonym: "NEPPK" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600962, Orphanet:2337] -synonym: "non-epidermolytic palmoplantar keratoderma" EXACT [Orphanet:2337] -synonym: "nonepidermolytic palmoplantar keratoderma" EXACT [MONDO:0006588, OMIM:600962] +synonym: "NEPPK" EXACT ABBREVIATION [DOID:0050428, MONDO:Lexical, OMIM:600962] +synonym: "non-epidermolytic palmoplantar keratoderma" EXACT [] +synonym: "nonepidermolytic palmoplantar keratoderma" EXACT [DOID:0050428, MONDO:0006588, OMIM:600962] synonym: "palmoplantar keratoderma, nonepidermolytic" EXACT [MONDO:Lexical, OMIM:600962] synonym: "PPK diffusa circumscripta" RELATED [GARD:0005186] -synonym: "PPKNE" RELATED ABBREVIATION [OMIM:600962] +synonym: "PPKNE" RELATED ABBREVIATION [] synonym: "Thost-Unna disease" RELATED [GARD:0005186, PMID:7531539] synonym: "Thost-Unna palmoplantar keratoderma" RELATED [GARD:0005186, PMID:7531539] -synonym: "Thost-Unna syndrome" RELATED DEPRECATED [DOID:0050428, PMID:7531539] -synonym: "tylosis" RELATED [DOID:0050428, OMIM:600962] +synonym: "Thost-Unna syndrome" RELATED DEPRECATED [PMID:7531539] +synonym: "tylosis" RELATED [] synonym: "Unna-Thost palmoplantar keratoderma" RELATED [GARD:0005186, PMID:7531539] -synonym: "Unna-Thost syndrome" RELATED DEPRECATED [DOID:0050428, PMID:7531539] +synonym: "Unna-Thost syndrome" RELATED DEPRECATED [PMID:7531539] xref: DOID:0050428 {source="MONDO:equivalentTo", source="EFO:1000743"} xref: DOID:0070550 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:5186 {source="MONDO:GARD"} @@ -246097,20 +246138,20 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18101", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 14" NARROW [DOID:0110584] -synonym: "autosomal dominant deafness 38" NARROW [DOID:0110584] -synonym: "autosomal dominant deafness 6" NARROW [DOID:0110584] -synonym: "autosomal dominant nonsyndromic deafness 6" NARROW [OMIM:600965] +synonym: "autosomal dominant deafness 14" NARROW [] +synonym: "autosomal dominant deafness 38" NARROW [] +synonym: "autosomal dominant deafness 6" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 6" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in WFS1" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 6" NARROW [DOID:0110584, MONDORULE:1] -synonym: "deafness, autosomal dominant 14" NARROW [OMIM:600965] -synonym: "deafness, autosomal dominant 38" NARROW [OMIM:600965] -synonym: "deafness, autosomal dominant 6" NARROW [MONDO:Lexical, OMIM:600965] -synonym: "deafness, autosomal dominant 6/14/38" NARROW [OMIM:600965, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 6" NARROW [MONDORULE:1, OMIM:600965] -synonym: "DFNA14" NARROW ABBREVIATION [DOID:0110584] -synonym: "DFNA38" NARROW ABBREVIATION [DOID:0110584] -synonym: "DFNA6" NARROW ABBREVIATION [DOID:0110584, MONDO:Lexical, OMIM:600965] +synonym: "autosomal dominant nonsyndromic deafness type 6" NARROW [MONDORULE:1] +synonym: "deafness, autosomal dominant 14" NARROW [] +synonym: "deafness, autosomal dominant 38" NARROW [] +synonym: "deafness, autosomal dominant 6" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant 6/14/38" NARROW [] +synonym: "deafness, autosomal dominant type 6" NARROW [MONDORULE:1] +synonym: "DFNA14" NARROW ABBREVIATION [] +synonym: "DFNA38" NARROW ABBREVIATION [] +synonym: "DFNA6" NARROW ABBREVIATION [MONDO:Lexical] synonym: "WFS1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110584 {source="MONDO:equivalentTo"} xref: GARD:18101 {source="MONDO:GARD"} @@ -246135,12 +246176,12 @@ subset: gard_rare {source="GARD:9792", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "COL9A3 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "EDM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600969] +synonym: "EDM3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "epiphyseal dysplasia multiple 3" RELATED [GARD:0009792] synonym: "epiphyseal dysplasia, multiple, 3" EXACT [MONDO:Lexical, OMIM:600969] -synonym: "epiphyseal dysplasia, multiple, 3, with myopathy" RELATED [OMIM:600969] -synonym: "epiphyseal dysplasia, multiple, 3, with or without myopathy" EXACT [OMIM:600969, OMIM:genemap2] -synonym: "epiphyseal dysplasia, multiple, type 3" EXACT [MONDORULE:1, OMIM:600969] +synonym: "epiphyseal dysplasia, multiple, 3, with myopathy" RELATED [] +synonym: "epiphyseal dysplasia, multiple, 3, with or without myopathy" EXACT [] +synonym: "epiphyseal dysplasia, multiple, type 3" EXACT [MONDORULE:1] synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3" EXACT [] synonym: "multiple epiphyseal dysplasia 3" RELATED [GARD:0009792] xref: DOID:0070304 {source="MONDO:equivalentTo"} @@ -246166,15 +246207,15 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22586", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 6" NARROW [DOID:0110512] -synonym: "autosomal recessive nonsyndromic deafness 6" NARROW [OMIM:600971] +synonym: "autosomal recessive deafness 6" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 6" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMIE" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 6" NARROW [DOID:0110512, MONDORULE:1] +synonym: "autosomal recessive nonsyndromic deafness type 6" NARROW [MONDORULE:1] synonym: "autosomal recessive nonsyndromic hearing loss 6" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 6" NARROW [MONDO:Lexical, OMIM:600971, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 6" NARROW [MONDORULE:1, OMIM:600971] -synonym: "DFNB6" NARROW ABBREVIATION [DOID:0110512, MONDO:Lexical, OMIM:600971] -synonym: "neurosensory nonsyndromic recessive deafness 6" NARROW [OMIM:600971] +synonym: "deafness, autosomal recessive 6" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 6" NARROW [MONDORULE:1] +synonym: "DFNB6" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "neurosensory nonsyndromic recessive deafness 6" NARROW [] synonym: "TMIE autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110512 {source="MONDO:equivalentTo"} xref: GARD:22586 {source="MONDO:GARD"} @@ -246200,15 +246241,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93298"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACG1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600972] +synonym: "ACG1B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "achondrogenesis Fraccaro type" EXACT [DOID:0080055] -synonym: "achondrogenesis Ib" EXACT [OMIM:600972, OMIM:genemap2] -synonym: "achondrogenesis type 1B" RELATED [Orphanet:93298] -synonym: "achondrogenesis type IB" EXACT CLINGEN_LABEL [] -synonym: "achondrogenesis, Fraccaro type" RELATED [OMIM:600972] +synonym: "achondrogenesis Ib" EXACT [] +synonym: "achondrogenesis type 1B" RELATED [] +synonym: "achondrogenesis type IB" EXACT CLINGEN_LABEL [DOID:0080055] +synonym: "achondrogenesis, Fraccaro type" RELATED [] synonym: "achondrogenesis, Parenti-Fraccaro type" EXACT [Orphanet:93298] -synonym: "achondrogenesis, type 1B" RELATED [OMIM:600972] -synonym: "achondrogenesis, type IB" RELATED [MONDO:Lexical, OMIM:600972] +synonym: "achondrogenesis, type 1B" RELATED [] +synonym: "achondrogenesis, type IB" RELATED [MONDO:Lexical] synonym: "Fraccaro achondrogenesis" RELATED [GARD:0000460] xref: DOID:0080055 {source="MONDO:equivalentTo"} xref: GARD:460 {source="MONDO:GARD"} @@ -246237,16 +246278,16 @@ subset: gard_rare {source="GARD:22587", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive deafness 7" NARROW [DOID:0110520] -synonym: "autosomal recessive nonsyndromic deafness 7" NARROW [OMIM:600974] +synonym: "autosomal recessive deafness 7" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 7" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMC1" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 7" NARROW [DOID:0110520, MONDORULE:1] +synonym: "autosomal recessive nonsyndromic deafness type 7" NARROW [MONDORULE:1] synonym: "autosomal recessive nonsyndromic hearing loss 7" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 11" NARROW [OMIM:600974] -synonym: "deafness, autosomal recessive 7" NARROW [MONDO:Lexical, OMIM:600974, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 7" NARROW [MONDORULE:1, OMIM:600974] -synonym: "DFNB11" NARROW ABBREVIATION [DOID:0110520] -synonym: "DFNB7" NARROW ABBREVIATION [DOID:0110520, MONDO:Lexical, OMIM:600974] +synonym: "deafness, autosomal recessive 11" NARROW [] +synonym: "deafness, autosomal recessive 7" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 7" NARROW [MONDORULE:1] +synonym: "DFNB11" NARROW ABBREVIATION [] +synonym: "DFNB7" NARROW ABBREVIATION [MONDO:Lexical] synonym: "TMC1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110520 {source="MONDO:equivalentTo"} xref: GARD:22587 {source="MONDO:GARD"} @@ -246271,9 +246312,9 @@ subset: rare synonym: "glaucoma 3 primary infantile B" RELATED [GARD:0002490] synonym: "glaucoma 3, primary infantile, B" EXACT [MONDO:Lexical, OMIM:600975] synonym: "glaucoma primary congenita type 3B" RELATED [GARD:0002490] -synonym: "glaucoma, primary congenital, type B" RELATED [OMIM:600975] +synonym: "glaucoma, primary congenital, type B" RELATED [] synonym: "GLC3 type B" RELATED [GARD:0002490] -synonym: "Glc3, type B" RELATED [OMIM:600975] +synonym: "Glc3, type B" RELATED [] synonym: "GLC3B" EXACT ABBREVIATION [GARD:0002490, MONDO:Lexical, OMIM:600975] synonym: "primary congenital glaucoma" RELATED [GARD:0002490] synonym: "primary congenital glaucoma type 3B" RELATED [GARD:0002490] @@ -246294,9 +246335,9 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:10655", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 5" EXACT [MONDO:Lexical, OMIM:600977] +synonym: "cone-rod dystrophy 5" EXACT [DOID:0111010, MONDO:Lexical, OMIM:600977] synonym: "cone-rod dystrophy caused by mutation in PITPNM3" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 5" EXACT [DOID:0111010, MONDORULE:1, OMIM:600977] +synonym: "cone-rod dystrophy type 5" EXACT [MONDORULE:1] synonym: "CORD5" EXACT ABBREVIATION [DOID:0111010, MONDO:Lexical, OMIM:600977] synonym: "PITPNM3 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111010 {source="MONDO:equivalentTo"} @@ -246314,12 +246355,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10655/cone-r [Term] id: MONDO:0010970 name: cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies -synonym: "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies" EXACT CLINGEN_LABEL [OMIM:600987] -synonym: "cleft palate, CARDIAC defects, and intellectual disability" RELATED [OMIM:600987] -synonym: "cleft palate, Cardiac defects, and intellectual disability" RELATED [OMIM:600987] -synonym: "cleft palate, CARDIAC defects, and mental retardation" RELATED DEPRECATED [OMIM:600987] -synonym: "cleft palate, Cardiac defects, and mental retardation" RELATED DEPRECATED [OMIM:600987] -synonym: "CPCMR" RELATED DEPRECATED [OMIM:600987] +synonym: "cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies" EXACT CLINGEN_LABEL [DOID:0111697, OMIM:600987] +synonym: "cleft palate, CARDIAC defects, and intellectual disability" RELATED [] +synonym: "cleft palate, Cardiac defects, and intellectual disability" RELATED [] +synonym: "cleft palate, CARDIAC defects, and mental retardation" RELATED DEPRECATED [] +synonym: "cleft palate, Cardiac defects, and mental retardation" RELATED DEPRECATED [] +synonym: "CPCMR" RELATED DEPRECATED [] xref: DOID:0111697 {source="MONDO:equivalentTo"} xref: MEDGEN:318752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563414 {source="MONDO:equivalentTo"} @@ -246334,7 +246375,7 @@ name: infundibulopelvic stenosis-multicystic kidney syndrome def: "Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging." [Orphanet:1849] subset: ordo_malformation_syndrome {source="Orphanet:1849"} subset: otar {source="MONDO:OTAR"} -synonym: "infundibulopelvic dysgenesis" RELATED [OMIM:600989] +synonym: "infundibulopelvic dysgenesis" RELATED [] xref: MEDGEN:318751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535528 {source="MONDO:equivalentTo"} xref: OMIM:600989 {source="Orphanet:1849/e", source="MONDO:equivalentTo", source="Orphanet:1849"} @@ -246357,7 +246398,7 @@ subset: rare synonym: "Ferlini-Ragno-Calzolari syndrome" EXACT [Orphanet:2180] synonym: "hydrocephalus, costovertebral dysplasia, and Sprengel anomaly" RELATED [GARD:0005518] synonym: "hydrocephalus, skeletal anomalies, and mental disturbance" RELATED [GARD:0005518] -synonym: "hydrocephalus, Sprengel anomaly, and costovertebral dysplasia" RELATED [OMIM:600991] +synonym: "hydrocephalus, Sprengel anomaly, and costovertebral dysplasia" RELATED [] synonym: "Waaler-Aarskog syndrome" EXACT [Orphanet:2180] xref: GARD:5518 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2180", source="Orphanet:2180/attributed", source="Orphanet:2180/ntbt"} @@ -246377,13 +246418,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18102", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 5" NARROW [DOID:0110575] -synonym: "autosomal dominant nonsyndromic deafness 5" NARROW [OMIM:600994] +synonym: "autosomal dominant deafness 5" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 5" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GSDME" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 5" NARROW [DOID:0110575, MONDORULE:1] -synonym: "deafness, autosomal dominant 5" NARROW [MONDO:Lexical, OMIM:600994, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 5" NARROW [MONDORULE:1, OMIM:600994] -synonym: "DFNA5" NARROW ABBREVIATION [DOID:0110575, MONDO:Lexical, OMIM:600994] +synonym: "autosomal dominant nonsyndromic deafness type 5" NARROW [MONDORULE:1] +synonym: "deafness, autosomal dominant 5" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 5" NARROW [MONDORULE:1] +synonym: "DFNA5" NARROW ABBREVIATION [MONDO:Lexical] synonym: "GSDME autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110575 {source="MONDO:equivalentTo"} xref: GARD:18102 {source="MONDO:GARD"} @@ -246407,9 +246448,9 @@ subset: gard_rare {source="GARD:15326", source="MONDO:GARD"} subset: rare synonym: "nephrotic syndrome caused by mutation in NPHS2" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, idiopathic, steroid-resistant" RELATED [GARD:0003946] -synonym: "nephrotic syndrome, steroid-resistant, autosomal recessive" RELATED [OMIM:600995] +synonym: "nephrotic syndrome, steroid-resistant, autosomal recessive" RELATED [] synonym: "nephrotic syndrome, type 2" EXACT [MONDO:Lexical, OMIM:600995] -synonym: "NPHS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:600995] +synonym: "NPHS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "NPHS2 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SRN1" RELATED ABBREVIATION [GARD:0003946] xref: DOID:0080379 {source="MONDO:equivalentTo"} @@ -246442,16 +246483,16 @@ subset: ordo_disorder {source="Orphanet:89838"} subset: orphanet_rare {source="Orphanet:89838"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EBS, autosomal recessive K14" EXACT [Orphanet:89838] -synonym: "EBS-AR KRT14" EXACT [Orphanet:89838] -synonym: "EBSB1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601001] -synonym: "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" EXACT [OMIM:601001, OMIM:genemap2] -synonym: "epidermolysis bullosa simplex, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:601001] -synonym: "epidermolysis bullosa simplex, autosomal recessive K14" RELATED [Orphanet:89838] -synonym: "epidermolysis bullosa simplex, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:601001] -synonym: "KRT14-related autosomal recessive EBS" EXACT [Orphanet:89838] -synonym: "KRT14-related autosomal recessive epidermolysis bullosa simplex" EXACT [Orphanet:89838] -synonym: "KRT14-related epidermolysis bullosa simplex" EXACT [Orphanet:89838] +synonym: "EBS, autosomal recessive K14" EXACT [] +synonym: "EBS-AR KRT14" EXACT [] +synonym: "EBSB1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" EXACT [OMIM:601001] +synonym: "epidermolysis bullosa simplex, autosomal recessive 1" RELATED [MONDO:Lexical] +synonym: "epidermolysis bullosa simplex, autosomal recessive K14" RELATED [] +synonym: "epidermolysis bullosa simplex, autosomal recessive type 1" EXACT [MONDORULE:1] +synonym: "KRT14-related autosomal recessive EBS" EXACT [] +synonym: "KRT14-related autosomal recessive epidermolysis bullosa simplex" EXACT [] +synonym: "KRT14-related epidermolysis bullosa simplex" EXACT [] xref: GARD:16778 {source="MONDO:GARD"} xref: ICD10CM:Q81.0 {source="Orphanet:89838", source="Orphanet:89838/attributed", source="Orphanet:89838/ntbt"} xref: MEDGEN:811576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -246475,7 +246516,7 @@ subset: orphanet_rare {source="Orphanet:53347"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Brody disease" RELATED [GARD:0009158] -synonym: "Brody myopathy" EXACT CLINGEN_LABEL [OMIM:601003] +synonym: "Brody myopathy" EXACT CLINGEN_LABEL [DOID:0050692, OMIM:601003, Orphanet:53347] synonym: "sarcoplasmic reticulum -Ca2+ATPase deficiency" RELATED [GARD:0009158] xref: DOID:0050692 {source="MONDO:equivalentTo"} xref: GARD:9158 {source="MONDO:GARD"} @@ -246512,13 +246553,13 @@ subset: ordo_disorder {source="Orphanet:65283"} subset: orphanet_rare {source="Orphanet:65283"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "long QT syndrome 8" RELATED [OMIM:601005] -synonym: "long QT syndrome type 8" RELATED [Orphanet:65283] -synonym: "long QT syndrome with syndactyly" RELATED [OMIM:601005] +synonym: "long QT syndrome 8" RELATED [] +synonym: "long QT syndrome type 8" RELATED [] +synonym: "long QT syndrome with syndactyly" RELATED [DOID:0060173] synonym: "long QT syndrome-syndactyly syndrome" EXACT [Orphanet:65283] -synonym: "LQT8" RELATED ABBREVIATION [Orphanet:65283] -synonym: "TIMOTHY syndrome" EXACT [OMIM:601005] -synonym: "Timothy syndrome" EXACT [MONDO:Lexical, OMIM:601005] +synonym: "LQT8" RELATED ABBREVIATION [] +synonym: "TIMOTHY syndrome" EXACT [DOID:0060173, NCIT:C142894, OMIM:601005, Orphanet:65283] +synonym: "Timothy syndrome" EXACT [DOID:0060173, MONDO:Lexical, NCIT:C142894, OMIM:601005, Orphanet:65283] synonym: "TS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601005] xref: DOID:0060173 {source="MONDO:equivalentTo"} xref: GARD:9294 {source="MONDO:GARD"} @@ -246548,8 +246589,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9294/timothy [Term] id: MONDO:0010980 name: midline malformations, multiple, with limb abnormalities and hypopituitarism -synonym: "Dincsoy syndrome" RELATED [OMIM:601016] -synonym: "Dincsoy-Salih-Patel syndrome" EXACT [Orphanet:1678] +synonym: "Dincsoy syndrome" RELATED [] +synonym: "Dincsoy-Salih-Patel syndrome" EXACT [] synonym: "midline malformations, multiple, with limb abnormalities and hypopituitarism" EXACT [OMIM:601016] xref: MEDGEN:371431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536177 {source="MONDO:equivalentTo"} @@ -246571,7 +246612,7 @@ synonym: "absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cy synonym: "Holmes Collins syndrome" RELATED [GARD:0005210] synonym: "Holmes-Collins syndrome" EXACT [Orphanet:3328] synonym: "tibia absent polydactyly arachnoid cyst" RELATED [GARD:0005210] -synonym: "tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies" RELATED [OMIM:601027] +synonym: "tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies" RELATED [] synonym: "tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies" RELATED [GARD:0005210] xref: GARD:5210 {source="MONDO:GARD"} xref: MEDGEN:318725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -246589,8 +246630,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5210/tibia-a [Term] id: MONDO:0010982 name: ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin -synonym: "ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin" EXACT [OMIM:601039] -synonym: "ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin" RELATED DEPRECATED [OMIM:601039] +synonym: "ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin" EXACT [] +synonym: "ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin" RELATED DEPRECATED [] xref: MEDGEN:318724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563402 {source="MONDO:equivalentTo"} xref: OMIM:601039 {source="MONDO:equivalentTo"} @@ -246607,14 +246648,14 @@ subset: ordo_disorder {source="Orphanet:53583"} subset: orphanet_rare {source="Orphanet:53583"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "choreoathetosis, kinesigenic, with episodic ataxia and spasticity" RELATED [OMIM:601042] -synonym: "choreoathetosis/spasticity, episodic" RELATED [OMIM:601042] -synonym: "Cse choreoathetosis, paroxysmal, with episodic ataxia" RELATED [OMIM:601042] -synonym: "dystonia 9" EXACT [MONDO:Lexical, OMIM:601042] -synonym: "dystonia type 9" EXACT [DOID:0090044, MONDORULE:1, OMIM:601042] +synonym: "choreoathetosis, kinesigenic, with episodic ataxia and spasticity" RELATED [] +synonym: "choreoathetosis/spasticity, episodic" RELATED [] +synonym: "Cse choreoathetosis, paroxysmal, with episodic ataxia" RELATED [] +synonym: "dystonia 9" EXACT [DOID:0090044, MONDO:Lexical, OMIM:601042] +synonym: "dystonia type 9" EXACT [MONDORULE:1] synonym: "DYT9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601042, Orphanet:53583] synonym: "episodic choreoathetosis/spasticity" EXACT [Orphanet:53583] -synonym: "paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" RELATED [Orphanet:53583] +synonym: "paroxysmal dystonic choreathetosis with episodic ataxia and spasticity" RELATED [] xref: DOID:0090044 {source="MONDO:equivalentTo"} xref: GARD:16656 {source="MONDO:GARD"} xref: ICD10CM:G24.8 {source="DOID:0090044", source="Orphanet:53583/attributed", source="Orphanet:53583/ntbt", source="Orphanet:53583"} @@ -246639,13 +246680,13 @@ subset: gard_rare {source="GARD:5438", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "USH1D" EXACT ABBREVIATION [DOID:0110831, MONDO:Lexical, OMIM:601067] -synonym: "Ush1D/F, Cdh23/Pcdh15, digenic" RELATED [OMIM:601067] -synonym: "Usher syndrome type 1D" EXACT [] +synonym: "Ush1D/F, Cdh23/Pcdh15, digenic" RELATED [] +synonym: "Usher syndrome type 1D" EXACT [DOID:0110831] synonym: "Usher syndrome type ID" EXACT [DOID:0110831] synonym: "Usher syndrome, type 1D" RELATED [GARD:0005438] -synonym: "Usher syndrome, type 1D/F digenic" EXACT [OMIM:601067, OMIM:genemap2] -synonym: "USHER syndrome, type ID" RELATED [MONDO:Lexical, OMIM:601067] -synonym: "Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic" RELATED [OMIM:601067] +synonym: "Usher syndrome, type 1D/F digenic" EXACT [] +synonym: "USHER syndrome, type ID" RELATED [MONDO:Lexical] +synonym: "Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic" RELATED [] xref: DOID:0110831 {source="MONDO:equivalentTo"} xref: GARD:5438 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="DOID:0110831", source="MONDO:relatedTo"} @@ -246666,10 +246707,10 @@ name: epilepsy, familial adult myoclonic, 1 subset: gard_rare {source="GARD:18082", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "benign adult familial myoclonic epilepsy 1" RELATED [OMIM:601068] -synonym: "cortical myoclonic tremor with epilepsy, familial, 1" RELATED [OMIM:601068] -synonym: "epilepsy, familial ADULT myoclonic, 1" RELATED [MONDO:Lexical, OMIM:601068] -synonym: "FAME1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601068] +synonym: "benign adult familial myoclonic epilepsy 1" RELATED [] +synonym: "cortical myoclonic tremor with epilepsy, familial, 1" RELATED [] +synonym: "epilepsy, familial ADULT myoclonic, 1" RELATED [MONDO:Lexical] +synonym: "FAME1" EXACT ABBREVIATION [DOID:0111690, MONDO:Lexical, OMIM:601068] xref: DOID:0111690 {source="MONDO:equivalentTo"} xref: GARD:18082 {source="MONDO:GARD"} xref: MEDGEN:371424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -246690,18 +246731,18 @@ subset: gard_rare {source="GARD:22588", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "auditory neuropathy, autosomal recessive, 1" NARROW [OMIM:601071, OMIM:genemap2] -synonym: "auditory neuropathy, nonsyndromic recessive" NARROW [OMIM:601071] -synonym: "autosomal recessive deafness 9" NARROW [DOID:0110535] -synonym: "autosomal recessive nonsyndromic deafness 9" NARROW [OMIM:601071] +synonym: "auditory neuropathy, autosomal recessive, 1" NARROW [] +synonym: "auditory neuropathy, nonsyndromic recessive" NARROW [] +synonym: "autosomal recessive deafness 9" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 9" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOF" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 9" NARROW [DOID:0110535, MONDORULE:1] +synonym: "autosomal recessive nonsyndromic deafness type 9" NARROW [MONDORULE:1] synonym: "autosomal recessive nonsyndromic hearing loss 9" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 9" NARROW [MONDO:Lexical, OMIM:601071, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 9" NARROW [MONDORULE:1, OMIM:601071] -synonym: "DFNB9" NARROW ABBREVIATION [DOID:0110535, MONDO:Lexical, OMIM:601071] -synonym: "neurosensory nonsyndromic recessive deafness 9" NARROW [DOID:0110535, OMIM:601071] -synonym: "NRSD9" NARROW ABBREVIATION [DOID:0110535] +synonym: "deafness, autosomal recessive 9" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 9" NARROW [MONDORULE:1] +synonym: "DFNB9" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "neurosensory nonsyndromic recessive deafness 9" NARROW [] +synonym: "NRSD9" NARROW ABBREVIATION [] synonym: "OTOF autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110535 {source="MONDO:equivalentTo"} xref: GARD:22588 {source="MONDO:GARD"} @@ -246725,21 +246766,21 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in mu subset: gard_rare {source="GARD:22589", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 10" NARROW [DOID:0110527] -synonym: "autosomal recessive deafness 8" NARROW [DOID:0110527] -synonym: "autosomal recessive nonsyndromic deafness 8" NARROW [OMIM:601072] -synonym: "autosomal recessive nonsyndromic deafness type 8" NARROW [DOID:0110527, MONDORULE:1] +synonym: "autosomal recessive deafness 10" NARROW [] +synonym: "autosomal recessive deafness 8" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 8" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 8" NARROW [MONDORULE:1] synonym: "autosomal recessive nonsyndromic hearing loss 8" EXACT CLINGEN_LABEL [] -synonym: "childhood-onset neurosensory autosomal recessive deafness 8" NARROW [DOID:0110527] -synonym: "deafness, autosomal recessive 10" NARROW [OMIM:601072] -synonym: "deafness, autosomal recessive 8" NARROW [MONDO:Lexical, OMIM:601072] -synonym: "deafness, autosomal recessive 8/10" NARROW [OMIM:601072, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 8" NARROW [MONDORULE:1, OMIM:601072] -synonym: "deafness, childhood-onset neurosensory, autosomal recessive 8" NARROW [OMIM:601072] -synonym: "DFNB10" NARROW ABBREVIATION [DOID:0110527] -synonym: "DFNB8" NARROW ABBREVIATION [DOID:0110527, MONDO:Lexical, OMIM:601072] -synonym: "neurosensory nonsyndromic recessive deafness 8" NARROW [DOID:0110527, OMIM:601072] -synonym: "NRSD8" NARROW ABBREVIATION [DOID:0110527] +synonym: "childhood-onset neurosensory autosomal recessive deafness 8" NARROW [] +synonym: "deafness, autosomal recessive 10" NARROW [] +synonym: "deafness, autosomal recessive 8" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive 8/10" NARROW [] +synonym: "deafness, autosomal recessive type 8" NARROW [MONDORULE:1] +synonym: "deafness, childhood-onset neurosensory, autosomal recessive 8" NARROW [] +synonym: "DFNB10" NARROW ABBREVIATION [] +synonym: "DFNB8" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "neurosensory nonsyndromic recessive deafness 8" NARROW [] +synonym: "NRSD8" NARROW ABBREVIATION [] xref: DOID:0110527 {source="MONDO:equivalentTo"} xref: GARD:22589 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110527"} @@ -246761,7 +246802,7 @@ subset: ordo_disorder {source="Orphanet:1117"} subset: orphanet_rare {source="Orphanet:1117"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aplasia cutis congenita, high myopia, and cone-rod dysfunction" RELATED [OMIM:601075] +synonym: "aplasia cutis congenita, high myopia, and cone-rod dysfunction" RELATED [] synonym: "aplasia cutis myopia" EXACT [MONDO:0021910] synonym: "Gershoni-Baruch-Leibo syndrome" EXACT [Orphanet:1117] xref: GARD:756 {source="MONDO:GARD"} @@ -246784,16 +246825,16 @@ subset: gard_rare {source="GARD:5513", source="MONDO:GARD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:2578"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atypical MRKH syndrome" EXACT [Orphanet:2578] -synonym: "Klippel-Feil deformity, conductive deafness, and absent vagina" RELATED [OMIM:601076] -synonym: "Mayer-Rokitansky-Kuster-Hauser syndrome, type 2" RELATED [OMIM:601076] +synonym: "atypical MRKH syndrome" EXACT [DOID:0112179, Orphanet:2578] +synonym: "Klippel-Feil deformity, conductive deafness, and absent vagina" RELATED [] +synonym: "Mayer-Rokitansky-Kuster-Hauser syndrome, type 2" RELATED [] synonym: "Mayer-Rokitansky-Küster-Hauser syndrome type 2" EXACT [Orphanet:2578] -synonym: "MRKH syndrome type 2" EXACT [Orphanet:2578] -synonym: "MRKH, type 2" RELATED [OMIM:601076] -synonym: "MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies" RELATED [MONDO:Lexical, OMIM:601076] -synonym: "Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [Orphanet:2578] -synonym: "MURCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601076] -synonym: "MURCS association" EXACT [Orphanet:2578] +synonym: "MRKH syndrome type 2" EXACT [DOID:0112179, icd11.foundation:1521808255, Orphanet:2578] +synonym: "MRKH, type 2" RELATED [] +synonym: "MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies" RELATED [MONDO:Lexical] +synonym: "Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [DOID:0112179] +synonym: "MURCS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "MURCS association" EXACT [DOID:0112179, icd11.foundation:1521808255, Orphanet:2578] synonym: "Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [Orphanet:2578] xref: DOID:0112179 {source="MONDO:equivalentTo"} xref: GARD:5513 {source="MONDO:GARD"} @@ -246811,7 +246852,7 @@ relationship: disease_has_feature MONDO:0001029 ! Klippel-Feil syndrome [Term] id: MONDO:0010990 name: obsolete Cd4/CD8 T-cell ratio -synonym: "Cd4/CD8 T-cell ratio" EXACT [OMIM:601083] +synonym: "Cd4/CD8 T-cell ratio" EXACT [] xref: NCIT:C74637 xref: OMIM:601083 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -246842,12 +246883,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:477668"} subset: rare -synonym: "AYGRP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601088] -synonym: "AYME-Gripp syndrome" RELATED [OMIM:601088] -synonym: "Ayme-Gripp syndrome" EXACT [MONDO:Lexical, OMIM:601088] -synonym: "Aymé-Gripp syndrome" RELATED [Orphanet:477668] -synonym: "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability" RELATED [OMIM:601088] -synonym: "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation" RELATED DEPRECATED [OMIM:601088] +synonym: "AYGRP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "AYME-Gripp syndrome" RELATED [] +synonym: "Ayme-Gripp syndrome" EXACT [DOID:0111688, MONDO:Lexical, OMIM:601088] +synonym: "Aymé-Gripp syndrome" RELATED [] +synonym: "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability" RELATED [] +synonym: "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation" RELATED DEPRECATED [] xref: DOID:0111688 {source="MONDO:equivalentTo"} xref: MEDGEN:371416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563390 {source="MONDO:equivalentTo"} @@ -246874,7 +246915,7 @@ subset: rare synonym: "cranio-facio-digito-genital syndrome" EXACT [Orphanet:2115] synonym: "craniofacial digital genital anomalies" RELATED [GARD:0002601] synonym: "Harrod Doman Keele syndrome" RELATED [GARD:0002601] -synonym: "Harrod syndrome" EXACT [OMIM:601095] +synonym: "Harrod syndrome" EXACT [OMIM:601095, Orphanet:2115] xref: GARD:2601 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2115/attributed", source="Orphanet:2115/ntbt", source="Orphanet:2115"} xref: MEDGEN:162895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -246891,11 +246932,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0010994 name: obsolete micromelic dwarfism, Fryns type comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects" RELATED [OMIM:601096] +synonym: "dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects" RELATED [] synonym: "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects" RELATED [GARD:0003642] -synonym: "SEMD, micromelic" RELATED [OMIM:601096] +synonym: "SEMD, micromelic" RELATED [] synonym: "spondyloepimetaphyseal dysplasia micromelic" RELATED [GARD:0003642] -synonym: "spondyloepimetaphyseal dysplasia, micromelic" RELATED [OMIM:601096] +synonym: "spondyloepimetaphyseal dysplasia, micromelic" RELATED [] xref: ICD10CM:Q77.8 {source="Orphanet:2641", source="Orphanet:2641/attributed", source="Orphanet:2641/ntbt"} xref: MESH:C537556 {source="Orphanet:2641", source="MONDO:obsoleteEquivalent", source="Orphanet:2641/e"} xref: OMIM:601096 {source="Orphanet:2641", source="MONDO:obsoleteEquivalent", source="Orphanet:2641/e"} @@ -246917,20 +246958,20 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Charcot Marie Tooth disease type 1C" RELATED [GARD:0001247] synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1C" RELATED [GARD:0001247, MONDO:Lexical, OMIM:601098] -synonym: "Charcot-Marie-Tooth disease, type 1C" EXACT [OMIM:601098, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1C" RELATED [GARD:0001247, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, type 1C" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 1C" EXACT [DOID:0110151] -synonym: "Charcot-Marie-Tooth neuropathy, type 1C" RELATED [OMIM:601098] +synonym: "Charcot-Marie-Tooth neuropathy, type 1C" RELATED [] synonym: "CMT 1C" RELATED [GARD:0001247] synonym: "CMT slow nerve conduction type C" EXACT [DOID:0110151] -synonym: "CMT, slow nerve conduction type C" RELATED [OMIM:601098] +synonym: "CMT, slow nerve conduction type C" RELATED [] synonym: "CMT1C" EXACT ABBREVIATION [DOID:0110151, MONDO:Lexical, OMIM:601098, Orphanet:101083] -synonym: "HMSN 1C" RELATED [OMIM:601098] -synonym: "HMSN IC" EXACT [DOID:0110151] +synonym: "HMSN 1C" RELATED [] +synonym: "HMSN IC" EXACT ABBREVIATION [DOID:0110151] synonym: "HMSN1C" EXACT ABBREVIATION [DOID:0110151] synonym: "LITAF Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuropathy hereditary motor and sensory type 1C" EXACT [DOID:0110151] -synonym: "neuropathy, hereditary motor and sensory, type 1C" RELATED [OMIM:601098] +synonym: "neuropathy, hereditary motor and sensory, type 1C" RELATED [] xref: DOID:0110151 {source="MONDO:equivalentTo"} xref: GARD:1247 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="DOID:0110151", source="Orphanet:101083", source="Orphanet:101083/attributed", source="Orphanet:101083/ntbt"} @@ -246954,11 +246995,11 @@ name: hereditary hemorrhagic telangiectasia type 3 subset: gard_rare {source="GARD:9902", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HHT3" RELATED ABBREVIATION [GARD:0009902, MONDO:Lexical, OMIM:601101] +synonym: "HHT3" RELATED ABBREVIATION [GARD:0009902, MONDO:Lexical] synonym: "ORW3" RELATED ABBREVIATION [GARD:0009902] synonym: "Osler Weber Rendu syndrome type 3" RELATED [GARD:0009902] synonym: "telangiectasia hereditary hemorrhagic type 3" RELATED [GARD:0009902] -synonym: "telangiectasia, hereditary hemorrhagic, type 3" RELATED [MONDO:Lexical, OMIM:601101] +synonym: "telangiectasia, hereditary hemorrhagic, type 3" RELATED [MONDO:Lexical] xref: GARD:9902 {source="MONDO:GARD"} xref: MEDGEN:371403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537140 {source="MONDO:equivalentTo"} @@ -246979,14 +247020,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "classic progressive supranuclear palsy syndrome" EXACT [Orphanet:240071] synonym: "classic PSP syndrome" EXACT [Orphanet:240071] -synonym: "PSNP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601104] +synonym: "PSNP1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PSP" EXACT ABBREVIATION [OMIM:601104] synonym: "Richardson syndrome" EXACT [Orphanet:240071] -synonym: "Steele-Richardson-Olszewski disease" BROAD [Orphanet:240071] -synonym: "Steele-Richardson-Olszewski syndrome" BROAD [OMIM:601104] -synonym: "supranuclear palsy, progressive" EXACT [OMIM:601104, OMIM:genemap2] +synonym: "Steele-Richardson-Olszewski disease" BROAD [] +synonym: "Steele-Richardson-Olszewski syndrome" BROAD [] +synonym: "supranuclear palsy, progressive" EXACT [] synonym: "supranuclear palsy, progressive, 1" EXACT [MONDO:Lexical, OMIM:601104] -synonym: "supranuclear palsy, progressive, type 1" EXACT [MONDORULE:1, OMIM:601104] +synonym: "supranuclear palsy, progressive, type 1" EXACT [MONDORULE:1] xref: GARD:17182 {source="MONDO:GARD"} xref: ICD10CM:G23.1 {source="Orphanet:240071/ntbt", source="Orphanet:240071/inclusion", source="Orphanet:240071"} xref: MEDGEN:1640811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -247014,20 +247055,20 @@ synonym: "ALG3-CDG (CDG-Id)" RELATED [GARD:0009827] synonym: "ALG3-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] synonym: "carbohydrate deficient glycoprotein syndrome type Id" EXACT [Orphanet:79321] synonym: "carbohydrate-deficient glycoprotein syndrome type IV (formerly)" RELATED [GARD:0009827] -synonym: "carbohydrate-deficient glycoprotein syndrome, type IV" RELATED [OMIM:601110] -synonym: "carbohydrate-deficient glycoprotein syndrome, type IV, formerly" RELATED [OMIM:601110] +synonym: "carbohydrate-deficient glycoprotein syndrome, type IV" RELATED [] +synonym: "carbohydrate-deficient glycoprotein syndrome, type IV, formerly" RELATED [] synonym: "CDG 1D" RELATED [GARD:0009827] -synonym: "CDG Id" RELATED [OMIM:601110] +synonym: "CDG Id" RELATED [] synonym: "CDG syndrome type Id" EXACT [Orphanet:79321] synonym: "CDG-Id" EXACT [Orphanet:79321] synonym: "CDG1D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601110, Orphanet:79321] synonym: "CDGId" EXACT [NCIT:C126870] -synonym: "CDGS, type IV" RELATED [OMIM:601110] -synonym: "CDGS, type IV, formerly" RELATED [OMIM:601110] +synonym: "CDGS, type IV" RELATED [] +synonym: "CDGS, type IV, formerly" RELATED [] synonym: "CDGS4 (formerly)" RELATED [GARD:0009827] synonym: "congenital disorder of glycosylation type 1d" EXACT [Orphanet:79321] -synonym: "congenital disorder of glycosylation type Id" EXACT [Orphanet:79321] -synonym: "congenital disorder of glycosylation, type Id" RELATED [MONDO:Lexical, OMIM:601110] +synonym: "congenital disorder of glycosylation type Id" EXACT [NCIT:C126870, Orphanet:79321] +synonym: "congenital disorder of glycosylation, type Id" RELATED [MONDO:Lexical] synonym: "mannosyltransferase 6 deficiency" EXACT [Orphanet:79321] xref: DOID:0080556 {source="MONDO:equivalentTo"} xref: GARD:9827 {source="MONDO:GARD"} @@ -247059,7 +247100,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bindewald Ulmer Muller syndrome" RELATED [GARD:0000893] synonym: "Bindewald-Ulmer-Müller syndrome" EXACT [Orphanet:3304] -synonym: "FALLOT complex with severe mental and growth retardation" RELATED [OMIM:601127] +synonym: "FALLOT complex with severe mental and growth retardation" RELATED [] xref: GARD:893 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3304", source="Orphanet:3304/attributed", source="Orphanet:3304/ntbt"} xref: MEDGEN:322025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -247075,14 +247116,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011000 name: guanylate cyclase 2E -synonym: "GC-E" RELATED [OMIM:601138] -synonym: "guanylate cyclase 2E" EXACT [MONDO:Lexical, OMIM:601138] -synonym: "guanylate cyclase 2E, pseudogene" RELATED [OMIM:601138] -synonym: "guanylate cyclase type 2E" EXACT [MONDORULE:4, OMIM:601138] -synonym: "guanylyl cyclase, Membrane, type E" RELATED [OMIM:601138] -synonym: "Gucy2D, mouse, homolog of" RELATED [OMIM:601138] -synonym: "GUCY2E" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601138] -synonym: "GUCY2EP" RELATED ABBREVIATION [OMIM:601138] +synonym: "GC-E" RELATED [] +synonym: "guanylate cyclase 2E" EXACT [MONDO:Lexical] +synonym: "guanylate cyclase 2E, pseudogene" RELATED [] +synonym: "guanylate cyclase type 2E" EXACT [MONDORULE:4] +synonym: "guanylyl cyclase, Membrane, type E" RELATED [] +synonym: "Gucy2D, mouse, homolog of" RELATED [] +synonym: "GUCY2E" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "GUCY2EP" RELATED ABBREVIATION [] xref: OMIM:601138 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease @@ -247094,13 +247135,13 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "BRGDA1" EXACT ABBREVIATION [DOID:0110218, MONDO:Lexical, OMIM:601144] -synonym: "Brugada syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:601144] +synonym: "Brugada syndrome 1" EXACT CLINGEN_LABEL [DOID:0110218, MONDO:Lexical, OMIM:601144] synonym: "Brugada syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern] -synonym: "Brugada syndrome type 1" EXACT [DOID:0110218, MONDORULE:1, OMIM:601144] -synonym: "Cardiac conduction defect, nonspecific" RELATED [OMIM:601144] -synonym: "right bundle branch block, St segment elevation, and sudden death syndrome" RELATED [OMIM:601144] +synonym: "Brugada syndrome type 1" EXACT [MONDORULE:1] +synonym: "Cardiac conduction defect, nonspecific" RELATED [] +synonym: "right bundle branch block, St segment elevation, and sudden death syndrome" RELATED [] synonym: "SCN5A Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "sudden unexplained nocturnal death syndrome" RELATED [OMIM:601144] +synonym: "sudden unexplained nocturnal death syndrome" RELATED [] xref: DOID:0110218 {source="MONDO:equivalentTo"} xref: ICD10CM:I49.8 {source="DOID:0110218"} xref: MEDGEN:1646402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -247120,16 +247161,16 @@ def: "Any hereditary motor and sensory neuropathy type 6 in which the cause of t subset: gard_rare {source="GARD:18091", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Charcot-Marie-Tooth disease, type 6" BROAD [OMIM:601152] +synonym: "Charcot-Marie-Tooth disease, type 6" BROAD [] synonym: "Charcot-Marie-Tooth disease, type 6A" EXACT [OMIM:601152] synonym: "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2" EXACT [MONDO:design_pattern] -synonym: "hereditary motor and sensory neuropathy VIA" EXACT [OMIM:601152, OMIM:genemap2] -synonym: "HMSN 6A" RELATED [OMIM:601152] +synonym: "hereditary motor and sensory neuropathy VIA" EXACT [] +synonym: "HMSN 6A" RELATED [] synonym: "HMSN6A" EXACT ABBREVIATION [OMIM:601152] synonym: "MFN2 hereditary motor and sensory neuropathy type 6" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "neuropathy, hereditary motor and sensory, type 6" BROAD [OMIM:601152] -synonym: "neuropathy, hereditary motor and sensory, type VIA" EXACT [MONDO:Lexical, OMIM:601152] -synonym: "peripheral neuropathy and optic atrophy" BROAD [OMIM:601152] +synonym: "neuropathy, hereditary motor and sensory, type 6" BROAD [] +synonym: "neuropathy, hereditary motor and sensory, type VIA" EXACT [MONDO:Lexical] +synonym: "peripheral neuropathy and optic atrophy" BROAD [] xref: GARD:18091 {source="MONDO:GARD"} xref: OMIM:601152 {source="MONDO:equivalentTo"} xref: Orphanet:90120 {source="OMIM:601152"} @@ -247150,12 +247191,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy dilated with conduction defect type 2" EXACT [MONDO:0022652] synonym: "cardiomyopathy, dilated, 1E" EXACT [MONDO:Lexical, OMIM:601154] -synonym: "cardiomyopathy, dilated, type 1E" EXACT [MONDORULE:4, OMIM:601154] +synonym: "cardiomyopathy, dilated, type 1E" EXACT [MONDORULE:4] synonym: "cardiomyopathy, dilated, with conduction defect 2" EXACT [OMIM:601154] synonym: "cardiomyopathy, dilated, with conduction disorder and arrhythmia" EXACT [OMIM:601154] synonym: "CDCD2" EXACT ABBREVIATION [DOID:0110433] synonym: "CMD1E" EXACT ABBREVIATION [DOID:0110433, MONDO:Lexical, OMIM:601154] -synonym: "dilated cardiomyopathy type 1E" EXACT [DOID:0110433, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1E" EXACT [MONDORULE:4] synonym: "dilated cardiomyopathy with conduction defect 2" EXACT [DOID:0110433] synonym: "dilated cardiomyopathy with conduction disorder and arrhythmia" EXACT [DOID:0110433] synonym: "familial isolated dilated cardiomyopathy caused by mutation in SCN5A" EXACT [MONDO:design_pattern] @@ -247184,8 +247225,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:86822"} subset: orphanet_rare {source="Orphanet:86822"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lissencephaly type 3 and bone dysplasia" RELATED [OMIM:601160] -synonym: "lissencephaly type III and bone dysplasia" RELATED [OMIM:601160] +synonym: "lissencephaly type 3 and bone dysplasia" RELATED [] +synonym: "lissencephaly type III and bone dysplasia" RELATED [] xref: GARD:16763 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:86822", source="Orphanet:86822/attributed", source="Orphanet:86822/ntbt"} xref: MEDGEN:371379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -247214,18 +247255,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:447753"} subset: orphanet_rare {source="Orphanet:447753"} subset: rare -synonym: "AD-SPG9A" EXACT [DOID:0110824, Orphanet:447753] +synonym: "AD-SPG9A" EXACT ABBREVIATION [DOID:0110824, Orphanet:447753] synonym: "autosomal dominant complex spastic paraplegia type 9A" EXACT [DOID:0110824] synonym: "autosomal dominant spastic paraplegia 9A" EXACT [DOID:0110824] synonym: "cataracts motor neuropathy-short stature-skeletal anomalies syndrome" EXACT [DOID:0110824] synonym: "cataracts with motor neuronopathy, short stature and skeletal abnormalities" EXACT [DOID:0110824] -synonym: "cataracts with motor neuronopathy, short stature, and skeletal abnormalities" RELATED [OMIM:601162] -synonym: "hereditary spastic paraplegia type 9A" EXACT [DOID:0110824, MONDORULE:4] +synonym: "cataracts with motor neuronopathy, short stature, and skeletal abnormalities" RELATED [] +synonym: "hereditary spastic paraplegia type 9A" EXACT [MONDORULE:4] synonym: "spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux" EXACT [DOID:0110824] -synonym: "spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux" RELATED [OMIM:601162] -synonym: "spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux" RELATED [OMIM:601162] -synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" RELATED EXCLUDE [DOID:0110824] -synonym: "spastic paraplegia 9A, autosomal dominant" RELATED [MONDO:Lexical, OMIM:601162] +synonym: "spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux" RELATED [] +synonym: "spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux" RELATED [] +synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" RELATED EXCLUDE [] +synonym: "spastic paraplegia 9A, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG9A" EXACT ABBREVIATION [DOID:0110824, MONDO:Lexical, OMIM:601162] xref: DOID:0110824 {source="MONDO:equivalentTo"} xref: GARD:9583 {source="MONDO:GARD"} @@ -247253,8 +247294,8 @@ subset: orphanet_rare {source="Orphanet:2141"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "diaphragmatic defect limb deficiency skull defect" RELATED [GARD:0002397] -synonym: "diaphragmatic defects, limb deficiencies, and ossification defects of skull" RELATED [OMIM:601163] -synonym: "froster syndrome" RELATED [OMIM:601163] +synonym: "diaphragmatic defects, limb deficiencies, and ossification defects of skull" RELATED [] +synonym: "froster syndrome" RELATED [] synonym: "froster-Huch syndrome" EXACT [Orphanet:2141] xref: GARD:2397 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2141/attributed", source="Orphanet:2141/ntbt", source="Orphanet:2141"} @@ -247280,7 +247321,7 @@ subset: orphanet_rare {source="Orphanet:2001"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease" RELATED [GARD:0003430] -synonym: "cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease" RELATED [OMIM:601165] +synonym: "cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease" RELATED [] synonym: "McPherson Clemens syndrome" RELATED [GARD:0003430] synonym: "McPherson-Clemens syndrome" EXACT [Orphanet:2001] xref: GARD:3430 {source="MONDO:GARD"} @@ -247314,23 +247355,23 @@ subset: ordo_malformation_syndrome {source="Orphanet:2470"} subset: orphanet_rare {source="Orphanet:2470"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm" RELATED [OMIM:601186] -synonym: "anophthalmia-pulmonary hypoplasia syndrome" EXACT [Orphanet:2470] -synonym: "anophthalmia/microphthalmia and pulmonary hypoplasia" RELATED [OMIM:601186] +synonym: "anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm" RELATED [] +synonym: "anophthalmia-pulmonary hypoplasia syndrome" EXACT [DOID:0111807, Orphanet:2470] +synonym: "anophthalmia/microphthalmia and pulmonary hypoplasia" RELATED [] synonym: "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations" RELATED [GARD:0000713] synonym: "Matthew Wood syndrome" RELATED [GARD:0000713] -synonym: "Matthew-Wood syndrome" EXACT [OMIM:601186] -synonym: "MCOPS9" EXACT ABBREVIATION [DOID:0050819, MONDO:Lexical, OMIM:601186, Orphanet:2470] +synonym: "Matthew-Wood syndrome" EXACT [DOID:0111807, OMIM:601186, Orphanet:2470] +synonym: "MCOPS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601186] synonym: "microphthalmia syndromic 9" RELATED [GARD:0000713] -synonym: "microphthalmia syndromic type 9" EXACT [DOID:0050819] -synonym: "microphthalmia, isolated, with coloboma 8" RELATED [OMIM:601186] -synonym: "microphthalmia, syndromic 9" RELATED [MONDO:Lexical, OMIM:601186] -synonym: "microphthalmia, syndromic type 9" EXACT [MONDORULE:1, OMIM:601186] +synonym: "microphthalmia syndromic type 9" EXACT [] +synonym: "microphthalmia, isolated, with coloboma 8" RELATED [] +synonym: "microphthalmia, syndromic 9" RELATED [MONDO:Lexical] +synonym: "microphthalmia, syndromic type 9" EXACT [MONDORULE:1] synonym: "pulmonary agenesis microphthalmi and diaphragmatic defect" RELATED [GARD:0000713] -synonym: "pulmonary agenesis, microphthalmia, and diaphragmatic defect" RELATED [OMIM:601186] -synonym: "pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect" RELATED [OMIM:601186] -synonym: "spear syndrome" RELATED [OMIM:601186] -synonym: "syndromic microphthalmia type 9" EXACT [Orphanet:2470] +synonym: "pulmonary agenesis, microphthalmia, and diaphragmatic defect" RELATED [] +synonym: "pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect" RELATED [] +synonym: "spear syndrome" RELATED [] +synonym: "syndromic microphthalmia type 9" EXACT [] xref: DOID:0050819 {source="MONDO:equivalentObsolete"} xref: DOID:0111807 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:713 {source="MONDO:GARD"} @@ -247360,7 +247401,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1858"} subset: orphanet_rare {source="Orphanet:1858"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GURRIERI syndrome" RELATED [OMIM:601187] +synonym: "GURRIERI syndrome" RELATED [] synonym: "Gurrieri-Sammito-Bellussi syndrome" EXACT [Orphanet:1858] synonym: "intellectual disability, epilepsy, short stature and skeletal dysplasia" RELATED [GARD:0000350] synonym: "mental retardation, epilepsy, short stature and skeletal dysplasia" RELATED DEPRECATED [GARD:0000350] @@ -247391,10 +247432,10 @@ subset: ordo_disorder {source="Orphanet:139507"} subset: orphanet_rare {source="Orphanet:139507"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "African iron overload" EXACT [OMIM:601195] +synonym: "African iron overload" EXACT [DOID:0111033, icd11.foundation:869212237, OMIM:601195, Orphanet:139507] synonym: "Bantu siderosis" EXACT [DOID:0111033, OMIM:601195, Orphanet:139507] synonym: "hereditary iron overload and African Americans" RELATED [GARD:0008495] -synonym: "iron overload in Africa" EXACT [DOID:0111033, OMIM:601195] +synonym: "iron overload in Africa" EXACT [DOID:0111033] xref: DOID:0111033 {source="MONDO:equivalentTo"} xref: GARD:8495 {source="MONDO:GARD"} xref: ICD10CM:E83.1 {source="Orphanet:139507", source="DOID:0111033", source="Orphanet:139507/attributed", source="Orphanet:139507/ntbt"} @@ -247418,16 +247459,16 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant hypocalcemia caused by mutation in CASR" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant hypocalcemia type 1" EXACT [DOID:0090107, MONDORULE:1] +synonym: "autosomal dominant hypocalcemia type 1" EXACT [MONDORULE:1] synonym: "CASR autosomal dominant hypocalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hypercalciuric hypocalcemia" RELATED [OMIM:601198] +synonym: "hypercalciuric hypocalcemia" RELATED [] synonym: "HYPOC1" EXACT ABBREVIATION [DOID:0090107, MONDO:Lexical, OMIM:601198] -synonym: "hypocalcemia, autosomal dominant" BROAD [OMIM:601198, OMIM:genemap2] -synonym: "hypocalcemia, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:601198] -synonym: "hypocalcemia, autosomal dominant 1, with Bartter syndrome" RELATED [OMIM:601198] -synonym: "hypocalcemia, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:601198] -synonym: "hypocalcemia, autosomal dominant, with Bartter syndrome" EXACT [OMIM:601198, OMIM:genemap2] -synonym: "hypocalcemia, familial" RELATED [OMIM:601198] +synonym: "hypocalcemia, autosomal dominant" BROAD [] +synonym: "hypocalcemia, autosomal dominant 1" RELATED [MONDO:Lexical] +synonym: "hypocalcemia, autosomal dominant 1, with Bartter syndrome" RELATED [] +synonym: "hypocalcemia, autosomal dominant type 1" EXACT [MONDORULE:1] +synonym: "hypocalcemia, autosomal dominant, with Bartter syndrome" EXACT [] +synonym: "hypocalcemia, familial" RELATED [] xref: DOID:0090107 {source="MONDO:equivalentTo"} xref: MEDGEN:87438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601198 {source="MONDO:equivalentTo", source="DOID:0090107"} @@ -247456,10 +247497,10 @@ subset: rare synonym: "childhood pulmonary blastoma" EXACT [MONDO:design_pattern] synonym: "paediatric pulmonary blastoma" EXACT OMO:0003005 [] synonym: "pediatric pulmonary blastoma" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] -synonym: "pleuropulmonary blastoma" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C5669, OMIM:601200] -synonym: "pleuropulmonary blastoma (morphologic abnormality)" EXACT [DOID:4769] -synonym: "PPB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601200] -synonym: "PPB familial tumor and dysplasia syndrome" RELATED [OMIM:601200] +synonym: "pleuropulmonary blastoma" EXACT CLINGEN_LABEL [DOID:4769, MONDO:Lexical, NCIT:C5669, OMIM:601200, Orphanet:64742] +synonym: "pleuropulmonary blastoma (morphologic abnormality)" EXACT [] +synonym: "PPB" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PPB familial tumor and dysplasia syndrome" RELATED [] synonym: "PPB familial tumour and dysplasia syndrome" RELATED OMO:0003005 [] synonym: "pulmonary blastoma of childhood" EXACT [MONDO:patterns/childhood, NCIT:C5669] xref: DOID:4769 {source="MONDO:equivalentTo"} @@ -247499,10 +247540,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "anterior polar cataract 2" NARROW [DOID:0110257] synonym: "anterior polar cataract 24" NARROW [DOID:0110257] -synonym: "cataract 24" EXACT [MONDO:Lexical, OMIM:601202] -synonym: "cataract 24, anterior polar" RELATED [OMIM:601202] -synonym: "cataract type 24" EXACT [DOID:0110257, MONDORULE:2] -synonym: "cataract, anterior polar, 2" RELATED [OMIM:601202] +synonym: "cataract 24" EXACT [DOID:0110257, MONDO:Lexical, OMIM:601202] +synonym: "cataract 24, anterior polar" RELATED [] +synonym: "cataract type 24" EXACT [MONDORULE:2] +synonym: "cataract, anterior polar, 2" RELATED [] synonym: "CTAA2" NARROW ABBREVIATION [DOID:0110257] synonym: "CTRCT24" EXACT ABBREVIATION [DOID:0110257, MONDO:Lexical, OMIM:601202] xref: DOID:0110257 {source="MONDO:equivalentTo"} @@ -247523,8 +247564,8 @@ is_a: MONDO:0020377 {source="MONDO:Redundant", source="Orphanet:98992/btnt"} ! e id: MONDO:0011016 name: type 1 diabetes mellitus 11 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31." [DOID:0110750, MONDO:patterns/inherited_susceptibility, PMID:8617492] -synonym: "diabetes mellitus, insulin-dependent, 11" RELATED [MONDO:Lexical, OMIM:601208] -synonym: "IDDM11" EXACT ABBREVIATION [DOID:0110750, MONDO:Lexical, OMIM:601208] +synonym: "diabetes mellitus, insulin-dependent, 11" RELATED [MONDO:Lexical] +synonym: "IDDM11" EXACT ABBREVIATION [DOID:0110750, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 11" EXACT [DOID:0110750, OMIM:601208] xref: DOID:0110750 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110750"} @@ -247548,26 +247589,26 @@ subset: ordo_disorder {source="Orphanet:34217"} subset: orphanet_rare {source="Orphanet:34217"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities" RELATED [OMIM:601214] -synonym: "keratoderma with woolly hair type I" EXACT OMO:0003005 [] -synonym: "keratoderma with wooly hair type I" EXACT [Orphanet:34217] +synonym: "cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities" RELATED [] +synonym: "keratoderma with woolly hair type I" EXACT OMO:0003005 [Orphanet:34217] +synonym: "keratoderma with wooly hair type I" EXACT [] synonym: "keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair" RELATED OMO:0003005 [] synonym: "keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair" RELATED [GARD:0009795] -synonym: "keratosis palmoplantaris with arrhythmogenic cardiomyopathy" RELATED [OMIM:601214] +synonym: "keratosis palmoplantaris with arrhythmogenic cardiomyopathy" RELATED [] synonym: "keratosis palmoplantaris with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217] synonym: "KWWH type I" EXACT [Orphanet:34217] -synonym: "Mal De Naxos" RELATED [OMIM:601214] -synonym: "NAXOS disease" EXACT [OMIM:601214] -synonym: "Naxos disease" EXACT [MONDO:Lexical, OMIM:601214] +synonym: "Mal De Naxos" RELATED [] +synonym: "NAXOS disease" EXACT [DOID:0080551, icd11.foundation:633516876, OMIM:601214, Orphanet:34217] +synonym: "Naxos disease" EXACT [DOID:0080551, icd11.foundation:633516876, MONDO:Lexical, OMIM:601214, Orphanet:34217] synonym: "NXD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601214] synonym: "palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217] synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair" RELATED OMO:0003005 [] -synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair" RELATED [OMIM:601214] +synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair" RELATED [] synonym: "palmoplantar keratoderma with arrythmogenic cardiomyopathy" EXACT [Orphanet:34217] synonym: "woolly hair palmoplantar keratoderma cardiac abnormalities" RELATED OMO:0003005 [] synonym: "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED OMO:0003005 [] synonym: "wooly hair palmoplantar keratoderma cardiac abnormalities" RELATED [GARD:0009795] -synonym: "wooly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED [OMIM:601214] +synonym: "wooly hair, palmoplantar keratoderma, and Cardiac abnormalities" RELATED [] xref: DOID:0080551 {source="MONDO:equivalentTo"} xref: GARD:9795 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:34217", source="Orphanet:34217/attributed", source="Orphanet:34217/ntbt"} @@ -247605,10 +247646,10 @@ synonym: "platyspondyly-amelogenesis imperfecta syndrome" EXACT [Orphanet:2899] synonym: "selective tooth agenesis 5" EXACT [DOID:0090143] synonym: "skeletal dysplasia with amelogenesis imperfecta and platyspondyly" RELATED [GARD:0005478] synonym: "STHAG6" EXACT ABBREVIATION [DOID:0090143] -synonym: "tooth agenesis, selective, 6" EXACT [OMIM:601216] -synonym: "tooth agenesis, selective, 6, formerly" RELATED [OMIM:601216] +synonym: "tooth agenesis, selective, 6" EXACT [] +synonym: "tooth agenesis, selective, 6, formerly" RELATED [] synonym: "Verloes Bourguignon syndrome" RELATED [GARD:0005478] -synonym: "Verloes-Bourguignon syndrome" EXACT [Orphanet:2899] +synonym: "Verloes-Bourguignon syndrome" EXACT [OMIM:601216, Orphanet:2899] xref: DOID:0090143 {source="MONDO:equivalentTo"} xref: GARD:5478 {source="MONDO:GARD"} xref: ICD10CM:Q76.3 {source="DOID:0090143", source="Orphanet:2899", source="Orphanet:2899/attributed", source="Orphanet:2899/ntbt"} @@ -247632,8 +247673,8 @@ subset: ordo_disorder {source="Orphanet:1014"} subset: orphanet_rare {source="Orphanet:1014"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism" RELATED [OMIM:601217] -synonym: "alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism" RELATED DEPRECATED [OMIM:601217] +synonym: "alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism" RELATED [] +synonym: "alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism" RELATED DEPRECATED [] synonym: "Devriendt-Vandenberghe-Fryns syndrome" EXACT [Orphanet:1014] xref: GARD:16553 {source="MONDO:GARD"} xref: MEDGEN:321990 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -247655,10 +247696,10 @@ subset: orphanet_rare {source="Orphanet:2786"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Hernández-Fragoso syndrome" EXACT [Orphanet:2786] -synonym: "OOCH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601220] +synonym: "OOCH" RELATED ABBREVIATION [MONDO:Lexical] synonym: "OOCH syndrome" RELATED [GARD:0000404] synonym: "OOCHS" EXACT ABBREVIATION [Orphanet:2786] -synonym: "osteoporosis and oculocutaneous hypopigmentation syndrome" RELATED [MONDO:Lexical, OMIM:601220] +synonym: "osteoporosis and oculocutaneous hypopigmentation syndrome" RELATED [MONDO:Lexical] synonym: "osteoporosis oculocutaneous hypopigmentation syndrome" RELATED [GARD:0000404] xref: GARD:404 {source="MONDO:GARD"} xref: MEDGEN:331321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -247700,14 +247741,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:52022"} subset: orphanet_rare {source="Orphanet:52022"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "11p11.2 deletion" EXACT [Orphanet:52022] -synonym: "chromosome 11P11.2 deletion syndrome" RELATED [OMIM:601224] -synonym: "Defect11 syndrome" RELATED [OMIM:601224] +synonym: "11p11.2 deletion" EXACT [DOID:0111687, Orphanet:52022] +synonym: "chromosome 11P11.2 deletion syndrome" RELATED [] +synonym: "Defect11 syndrome" RELATED [] synonym: "deletion of chromosome 11p11.2" RELATED [GARD:0009762] -synonym: "Potocki-Shaffer syndrome" EXACT [OMIM:601224] -synonym: "proximal 11P deletion syndrome" RELATED [OMIM:601224] -synonym: "proximal 11p deletion syndrome" EXACT [Orphanet:52022] -synonym: "PSS" RELATED ABBREVIATION [OMIM:601224] +synonym: "Potocki-Shaffer syndrome" EXACT [DOID:0111687, icd11.foundation:1587521558, NCIT:C75456, OMIM:601224, Orphanet:52022] +synonym: "proximal 11P deletion syndrome" RELATED [] +synonym: "proximal 11p deletion syndrome" EXACT [DOID:0111687, OMIM:601224, Orphanet:52022] +synonym: "PSS" RELATED ABBREVIATION [] xref: DECIPHER:34 {source="MONDO:equivalentTo"} xref: DOID:0111687 {source="MONDO:equivalentTo"} xref: GARD:9762 {source="MONDO:GARD"} @@ -247737,8 +247778,8 @@ subset: ordo_disorder {source="Orphanet:157794"} subset: orphanet_rare {source="Orphanet:157794"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary mixed polyposis syndrome" EXACT CLINGEN_LABEL [] -synonym: "HMPS" EXACT ABBREVIATION [Orphanet:157794] +synonym: "hereditary mixed polyposis syndrome" EXACT CLINGEN_LABEL [DOID:0111684, icd11.foundation:219068911, Orphanet:157794] +synonym: "HMPS" EXACT ABBREVIATION [DOID:0111684, Orphanet:157794] xref: DOID:0111684 {source="MONDO:equivalentTo"} xref: GARD:16981 {source="MONDO:GARD"} xref: ICD10CM:D12.6 {source="Orphanet:157794", source="Orphanet:157794/attributed", source="Orphanet:157794/ntbt"} @@ -247763,7 +247804,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Brocq-Duhring disease" RELATED [GARD:0001917] synonym: "dermatitis herpetiformis, familial" EXACT [OMIM:601230] -synonym: "DH" RELATED ABBREVIATION [GARD:0001917, OMIM:601230] +synonym: "DH" RELATED ABBREVIATION [GARD:0001917] synonym: "Duhring Brocq disease" RELATED [GARD:0001917] synonym: "Duhring's disease" RELATED [GARD:0001917] synonym: "hereditary dermatitis herpetiformis" EXACT [MONDO:patterns/hereditary] @@ -247788,13 +247829,13 @@ subset: ordo_disorder {source="Orphanet:94122"} subset: orphanet_rare {source="Orphanet:94122"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ataxia, cerebellar, Cayman type" EXACT [OMIM:601238, OMIM:genemap2] -synonym: "ATCAY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601238] +synonym: "ataxia, cerebellar, Cayman type" EXACT [] +synonym: "ATCAY" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Cayman ataxia" EXACT [Orphanet:94122] synonym: "Cayman cerebellar ataxia" EXACT [DOID:0060694] -synonym: "Cayman type cerebellar ataxia" EXACT CLINGEN_LABEL [] -synonym: "cerebellar ataxia, CAYMAN type" RELATED [OMIM:601238] -synonym: "cerebellar ataxia, Cayman type" RELATED [MONDO:Lexical, OMIM:601238] +synonym: "Cayman type cerebellar ataxia" EXACT CLINGEN_LABEL [DOID:0060694] +synonym: "cerebellar ataxia, CAYMAN type" RELATED [] +synonym: "cerebellar ataxia, Cayman type" RELATED [MONDO:Lexical] xref: DOID:0060694 {source="MONDO:equivalentTo"} xref: GARD:16836 {source="MONDO:GARD"} xref: ICD10CM:G11.0 {source="Orphanet:94122/attributed", source="Orphanet:94122/ntbt", source="DOID:0060694", source="Orphanet:94122"} @@ -247817,14 +247858,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ARCI4A" EXACT ABBREVIATION [DOID:0060712, MONDO:Lexical, OMIM:601277] -synonym: "autosomal recessive congenital ichthyosis type 4A" EXACT [DOID:0060712, MONDORULE:4] -synonym: "ichthyosis congenita 2B" RELATED [OMIM:601277] +synonym: "autosomal recessive congenital ichthyosis type 4A" EXACT [MONDORULE:4] +synonym: "ichthyosis congenita 2B" RELATED [] synonym: "ichthyosis congenita IIB" EXACT [DOID:0060712] synonym: "ichthyosis lamellar 2" RELATED [GARD:0009733] -synonym: "ichthyosis, congenital, autosomal recessive 4A" RELATED [MONDO:Lexical, OMIM:601277] -synonym: "ichthyosis, congenital, autosomal recessive type 4A" EXACT [MONDORULE:4, OMIM:601277] -synonym: "ichthyosis, lamellar, 2" RELATED [OMIM:601277] -synonym: "ichthyosis, lamellar, 2, formerly" RELATED [OMIM:601277] +synonym: "ichthyosis, congenital, autosomal recessive 4A" RELATED [MONDO:Lexical] +synonym: "ichthyosis, congenital, autosomal recessive type 4A" EXACT [MONDORULE:4] +synonym: "ichthyosis, lamellar, 2" RELATED [] +synonym: "ichthyosis, lamellar, 2, formerly" RELATED [] synonym: "ICR2B" EXACT ABBREVIATION [DOID:0060712] synonym: "lamellar ichthyosis 2" EXACT [DOID:0060712] synonym: "lamellar ichthyosis, type 2" RELATED [GARD:0009733] @@ -247850,11 +247891,11 @@ id: MONDO:0011027 name: diabetes mellitus, noninsulin-dependent, 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "diabetes mellitus, noninsulin-dependent 1" EXACT [OMIM:601283, OMIM:genemap2] +synonym: "diabetes mellitus, noninsulin-dependent 1" EXACT [] synonym: "diabetes mellitus, noninsulin-dependent, 1" EXACT [MONDO:Lexical, OMIM:601283] -synonym: "diabetes mellitus, noninsulin-dependent, type 1" EXACT [MONDORULE:1, OMIM:601283] -synonym: "NIDDM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601283] -synonym: "noninsulin-dependent diabetes mellitus 1" RELATED [OMIM:601283] +synonym: "diabetes mellitus, noninsulin-dependent, type 1" EXACT [MONDORULE:1] +synonym: "NIDDM1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "noninsulin-dependent diabetes mellitus 1" RELATED [] xref: MEDGEN:321979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563359 {source="MONDO:equivalentTo"} xref: OMIM:601283 {source="MONDO:equivalentTo"} @@ -247875,13 +247916,13 @@ subset: orphanet_rare {source="Orphanet:219"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD" EXACT [MONDO:design_pattern] -synonym: "delta-sarcoglycanopathy" BROAD [DOID:0110280, Orphanet:219] -synonym: "LGMD2F" EXACT ABBREVIATION [DOID:0110280, GARD:0008573, MESH:C535896, MONDO:Lexical, OMIM:601287, Orphanet:219] +synonym: "delta-sarcoglycanopathy" BROAD [] +synonym: "LGMD2F" EXACT ABBREVIATION [DOID:0110280, GARD:0008573, MESH:C535896, MONDO:Lexical, Orphanet:219] synonym: "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" EXACT [DOID:0110280, Orphanet:219] synonym: "limb-girdle muscular dystrophy type 2F" RELATED [GARD:0008573] synonym: "muscular dystrophy limb-girdle with delta-sarcoglyan deficiency" RELATED [GARD:0008573, MESH:C535896] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 6" EXACT [OMIM:601287, OMIM:genemap2] -synonym: "muscular dystrophy, limb-girdle, type 2F" RELATED [MESH:C535896, MONDO:Lexical, OMIM:601287] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 6" EXACT [OMIM:601287] +synonym: "muscular dystrophy, limb-girdle, type 2F" RELATED [MESH:C535896, MONDO:Lexical] synonym: "SGCD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110280 {source="MONDO:equivalentTo"} xref: GARD:8573 {source="MONDO:GARD"} @@ -247905,7 +247946,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8573/limb-gi [Term] id: MONDO:0011029 name: myeloid tumor suppressor -synonym: "myeloid leukemia-related locus" RELATED [OMIM:601308] +synonym: "myeloid leukemia-related locus" RELATED [] synonym: "myeloid tumor suppressor" EXACT [OMIM:601308] xref: MEDGEN:318644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601308 {source="MONDO:equivalentTo"} @@ -247915,7 +247956,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0011030 name: epithelial basolateral chloride conductance regulator, rabbit, homolog of -synonym: "Ebcr" RELATED [OMIM:601315] +synonym: "Ebcr" RELATED [] synonym: "epithelial basolateral chloride conductance regulator, rabbit, homolog of" EXACT [OMIM:601315] xref: MEDGEN:321967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601315 {source="MONDO:equivalentTo"} @@ -247929,14 +247970,14 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18103", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 10" NARROW [DOID:0110542] -synonym: "autosomal dominant nonsyndromic deafness 10" NARROW [OMIM:601316] +synonym: "autosomal dominant deafness 10" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 10" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in EYA4" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 10" NARROW [DOID:0110542, MONDORULE:2] +synonym: "autosomal dominant nonsyndromic deafness type 10" NARROW [MONDORULE:2] synonym: "autosomal dominant nonsyndromic hearing loss 10" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal dominant 10" NARROW [MONDO:Lexical, OMIM:601316, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 10" NARROW [MONDORULE:2, OMIM:601316] -synonym: "DFNA10" NARROW ABBREVIATION [DOID:0110542, MONDO:Lexical, OMIM:601316] +synonym: "deafness, autosomal dominant 10" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 10" NARROW [MONDORULE:2] +synonym: "DFNA10" NARROW ABBREVIATION [MONDO:Lexical] synonym: "EYA4 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110542 {source="MONDO:equivalentTo"} xref: GARD:18103 {source="MONDO:GARD"} @@ -247959,13 +248000,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18104", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 11" NARROW [DOID:0110543] -synonym: "autosomal dominant nonsyndromic deafness 11" NARROW [OMIM:601317] +synonym: "autosomal dominant deafness 11" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 11" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO7A" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 11" NARROW [DOID:0110543, MONDORULE:2] -synonym: "deafness, autosomal dominant 11" NARROW [MONDO:Lexical, OMIM:601317, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 11" NARROW [MONDORULE:2, OMIM:601317] -synonym: "DFNA11" NARROW ABBREVIATION [DOID:0110543, MONDO:Lexical, OMIM:601317] +synonym: "autosomal dominant nonsyndromic deafness type 11" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 11" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 11" NARROW [MONDORULE:2] +synonym: "DFNA11" NARROW ABBREVIATION [MONDO:Lexical] synonym: "MYO7A autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110543 {source="MONDO:equivalentTo"} xref: GARD:18104 {source="MONDO:GARD"} @@ -247986,8 +248027,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011033 name: type 1 diabetes mellitus 13 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34." [DOID:0110752, MONDO:patterns/inherited_susceptibility, PMID:8650584] -synonym: "diabetes mellitus, insulin-dependent, 13" RELATED [MONDO:Lexical, OMIM:601318] -synonym: "IDDM13" EXACT ABBREVIATION [DOID:0110752, MONDO:Lexical, OMIM:601318] +synonym: "diabetes mellitus, insulin-dependent, 13" RELATED [MONDO:Lexical] +synonym: "IDDM13" EXACT ABBREVIATION [DOID:0110752, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 13" EXACT [DOID:0110752, OMIM:601318] xref: DOID:0110752 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110752"} @@ -248011,9 +248052,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1811"} subset: orphanet_rare {source="Orphanet:1811"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectodermal dysplasia, nail/Tooth type" RELATED [OMIM:601319] +synonym: "ectodermal dysplasia, nail/Tooth type" RELATED [] synonym: "odonto-micronychial dysplasia" RELATED [GARD:0004053] -synonym: "odontomicronychial dysplasia" EXACT [OMIM:601319] +synonym: "odontomicronychial dysplasia" EXACT [OMIM:601319, Orphanet:1811] xref: GARD:4053 {source="MONDO:GARD"} xref: MEDGEN:371336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537741 {source="MONDO:equivalentTo", source="Orphanet:1811", source="Orphanet:1811/e"} @@ -248034,12 +248075,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:638"} subset: orphanet_rare {source="Orphanet:638"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neurofibromatosis type 1-Noonan syndrome" EXACT [Orphanet:638] -synonym: "neurofibromatosis with Noonan phenotype" RELATED [OMIM:601321] -synonym: "neurofibromatosis-Noonan syndrome" EXACT [MONDO:Lexical, OMIM:601321] -synonym: "NFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601321, Orphanet:638] +synonym: "neurofibromatosis type 1-Noonan syndrome" EXACT [DOID:0111683, Orphanet:638] +synonym: "neurofibromatosis with Noonan phenotype" RELATED [] +synonym: "neurofibromatosis-Noonan syndrome" EXACT [DOID:0111683, icd11.foundation:679913930, MONDO:Lexical, OMIM:601321, Orphanet:638] +synonym: "NFNS" EXACT ABBREVIATION [DOID:0111683, MONDO:Lexical, OMIM:601321, Orphanet:638] synonym: "Noonan neurofibromatosis syndrome" RELATED [GARD:0000372] -synonym: "Noonan-neurofibromatosis syndrome" RELATED [OMIM:601321] +synonym: "Noonan-neurofibromatosis syndrome" RELATED [] xref: DOID:0111683 {source="MONDO:equivalentTo"} xref: GARD:372 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:638", source="Orphanet:638/attributed", source="Orphanet:638/ntbt"} @@ -248073,7 +248114,7 @@ subset: rare synonym: "Bonnemann Meinecke syndrome" RELATED [GARD:0004437] synonym: "Bonnemann-Meinecke syndrome" EXACT [Orphanet:2941] synonym: "porencephaly cerebellar hypoplasia internal malformations" RELATED [GARD:0004437] -synonym: "porencephaly, cerebellar hypoplasia, and internal malformations" RELATED [OMIM:601322] +synonym: "porencephaly, cerebellar hypoplasia, and internal malformations" RELATED [] xref: GARD:4437 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2941", source="Orphanet:2941/ntbt"} xref: MEDGEN:331296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -248088,7 +248129,7 @@ is_a: MONDO:0005071 {source="https://orcid.org/0000-0001-5208-3432"} ! nervous s id: MONDO:0011037 name: renal dysplasia, cystic, susceptibility to subset: predisposition -synonym: "CYSRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601331] +synonym: "CYSRD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "diffuse cystic renal dysplasia" RELATED [GARD:0004658] synonym: "renal dysplasia diffuse cystic" RELATED [GARD:0004658] synonym: "renal dysplasia, cystic, susceptibility to" EXACT [MONDO:Lexical, OMIM:601331] @@ -248112,11 +248153,11 @@ subset: ordo_disorder {source="Orphanet:1171"} subset: orphanet_rare {source="Orphanet:1171"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CAPOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601338] -synonym: "CAPOS syndrome" EXACT [Orphanet:1171] +synonym: "CAPOS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "CAPOS syndrome" EXACT [OMIM:601338, Orphanet:1171] synonym: "cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss" RELATED [GARD:0001188] synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss" RELATED [GARD:0001188] -synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss" RELATED [MONDO:Lexical, OMIM:601338] +synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss" RELATED [MONDO:Lexical] xref: GARD:1188 {source="MONDO:GARD"} xref: MEDGEN:318633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535351 {source="MONDO:equivalentTo"} @@ -248133,10 +248174,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011039 name: atrophia maculosa varioliformis cutis, familial -synonym: "AMVC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601341] -synonym: "atrophia MACULOSA VARIOLIFORMIS cutis, familial" RELATED [OMIM:601341] +synonym: "AMVC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "atrophia MACULOSA VARIOLIFORMIS cutis, familial" RELATED [] synonym: "atrophia maculosa varioliformis cutis, familial" EXACT [MONDO:Lexical, OMIM:601341] -synonym: "varioliform macular atrophy of the skin" RELATED [OMIM:601341] +synonym: "varioliform macular atrophy of the skin" RELATED [] xref: MEDGEN:371334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563349 {source="MONDO:equivalentTo"} xref: OMIM:601341 {source="MONDO:equivalentTo"} @@ -248165,8 +248206,8 @@ subset: orphanet_rare {source="Orphanet:69083"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ectodermal dysplasia with natal teeth Turnpenny type" RELATED [GARD:0010526] -synonym: "ectodermal dysplasia with natal teeth, Turnpenny type" EXACT [OMIM:601345] -synonym: "ectodermal dysplasia, hair/Tooth type" RELATED [OMIM:601345] +synonym: "ectodermal dysplasia with natal teeth, Turnpenny type" EXACT [icd11.foundation:612149960, OMIM:601345, Orphanet:69083] +synonym: "ectodermal dysplasia, hair/Tooth type" RELATED [] xref: GARD:10526 {source="MONDO:GARD"} xref: icd11.foundation:612149960 {source="MONDO:equivalentTo"} xref: MEDGEN:371331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -248182,8 +248223,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10526/ectode id: MONDO:0011042 name: Martinez-Frias syndrome synonym: "Martinez-Frias syndrome" EXACT [OMIM:601346] -synonym: "Martínez-Frías syndrome" RELATED [Orphanet:137862] -synonym: "pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula" RELATED [OMIM:601346] +synonym: "Martínez-Frías syndrome" RELATED [] +synonym: "pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula" RELATED [] xref: MEDGEN:318628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563346 {source="MONDO:equivalentTo"} xref: OMIM:601346 {source="MONDO:equivalentTo"} @@ -248222,16 +248263,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:3434"} subset: orphanet_rare {source="Orphanet:3434"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MCOPS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601349, Orphanet:3434] +synonym: "MCOPS8" EXACT ABBREVIATION [DOID:0111803, MONDO:Lexical, OMIM:601349, Orphanet:3434] synonym: "microcephaly microphthalmia ectrodactyly of lower limbs and prognathism" RELATED [GARD:0003693] -synonym: "microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism" RELATED [OMIM:601349] -synonym: "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome" EXACT [Orphanet:3434] +synonym: "microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism" RELATED [] +synonym: "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome" EXACT [DOID:0111803, Orphanet:3434] synonym: "microphthalmia syndromic 8" RELATED [GARD:0003693] -synonym: "microphthalmia, syndromic 8" RELATED [MONDO:Lexical, OMIM:601349] +synonym: "microphthalmia, syndromic 8" RELATED [MONDO:Lexical] synonym: "MMEP" RELATED ABBREVIATION [GARD:0003693] -synonym: "syndromic microphthalmia type 8" EXACT [Orphanet:3434] +synonym: "syndromic microphthalmia type 8" EXACT [DOID:0111803, Orphanet:3434] synonym: "Viljoen Smart syndrome" RELATED [GARD:0003693] -synonym: "Viljoen-Smart syndrome" EXACT [Orphanet:3434] +synonym: "Viljoen-Smart syndrome" EXACT [DOID:0111803, Orphanet:3434] xref: DOID:0111803 {source="MONDO:equivalentTo"} xref: GARD:3693 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3434/attributed", source="Orphanet:3434/ntbt", source="Orphanet:3434"} @@ -248259,7 +248300,7 @@ subset: rare synonym: "familial short stature with facial dysmorphism and osteochondrodysplastic lesions" RELATED [GARD:0004838] synonym: "Mievis Verellen-Dumoulin syndrome" RELATED [GARD:0004838] synonym: "Mievis-Verellen-Dumoulin syndrome" EXACT [Orphanet:2867] -synonym: "short stature syndrome, Brussels type" RELATED [OMIM:601350] +synonym: "short stature syndrome, Brussels type" RELATED [] xref: GARD:4838 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2867", source="Orphanet:2867/attributed", source="Orphanet:2867/ntbt"} xref: icd11.foundation:251068104 {source="MONDO:equivalentTo"} @@ -248286,7 +248327,7 @@ subset: rare synonym: "chitty-Hall-Baraitser syndrome" EXACT [Orphanet:3218] synonym: "deafness, epiphyseal dysplasia, short stature" RELATED [GARD:0001688] synonym: "deafness, femoral epiphyseal dysplasia, short stature and developmental delay" RELATED [GARD:0001688] -synonym: "growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" RELATED [OMIM:601351] +synonym: "growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" RELATED [] xref: GARD:1688 {source="MONDO:GARD"} xref: MEDGEN:371330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535928 {source="MONDO:equivalentTo"} @@ -248308,8 +248349,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Battaglia-Neri syndrome" EXACT [Orphanet:1948] synonym: "epilepsy - microcephaly - skeletal dysplasia" RELATED [GARD:0000836] -synonym: "intellectual disability, microcephaly, epilepsy, and coarse face" RELATED [OMIM:601352] -synonym: "mental retardation, microcephaly, epilepsy, and coarse face" RELATED DEPRECATED [OMIM:601352] +synonym: "intellectual disability, microcephaly, epilepsy, and coarse face" RELATED [] +synonym: "mental retardation, microcephaly, epilepsy, and coarse face" RELATED DEPRECATED [] xref: GARD:836 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1948/attributed", source="Orphanet:1948/ntbt", source="Orphanet:1948"} xref: MEDGEN:330468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -248334,10 +248375,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "brachycephaly, deafness, cataract and intellectual disability" RELATED [GARD:0000958] synonym: "brachycephaly, deafness, cataract and mental retardation" RELATED DEPRECATED [GARD:0000958] -synonym: "brachycephaly, deafness, cataract, microstomia, and intellectual disability" RELATED [OMIM:601353] -synonym: "brachycephaly, deafness, cataract, microstomia, and mental retardation" RELATED DEPRECATED [OMIM:601353] +synonym: "brachycephaly, deafness, cataract, microstomia, and intellectual disability" RELATED [] +synonym: "brachycephaly, deafness, cataract, microstomia, and mental retardation" RELATED DEPRECATED [] synonym: "brachycephaly-deafness-cataract-intellectual disability syndrome" EXACT [Orphanet:1272] -synonym: "fine-Lubinsky syndrome" EXACT [OMIM:601353] +synonym: "fine-Lubinsky syndrome" EXACT [OMIM:601353, Orphanet:1272] xref: GARD:958 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1272/attributed", source="Orphanet:1272/ntbt", source="Orphanet:1272"} xref: MEDGEN:163198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -248364,7 +248405,7 @@ subset: rare synonym: "Ellis Yale Winter syndrome" RELATED [GARD:0002098] synonym: "Ellis-Yale-Winter syndrome" EXACT [Orphanet:2516] synonym: "microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis" RELATED [GARD:0002098] -synonym: "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" RELATED [OMIM:601355] +synonym: "microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs" RELATED [] xref: GARD:2098 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2516/attributed", source="Orphanet:2516/ntbt", source="Orphanet:2516"} xref: MEDGEN:371329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -248403,12 +248444,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4827/lethal- [Term] id: MONDO:0011052 name: amelia cleft lip palate hydrocephalus iris coloboma -synonym: "ACLH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601357] +synonym: "ACLH" RELATED ABBREVIATION [MONDO:Lexical] synonym: "amelia cleft lip palate hydrocephalus iris coloboma" EXACT [MONDO:0022434] synonym: "bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele" RELATED [GARD:0000388] -synonym: "brachial AMELIA, cleft LIP, and holoprosencephaly" RELATED [MONDO:Lexical, OMIM:601357] +synonym: "brachial AMELIA, cleft LIP, and holoprosencephaly" RELATED [MONDO:Lexical] synonym: "brachial amelia, forebrain defects and facial clefts" RELATED [GARD:0000388] -synonym: "brachial amelia, forebrain defects, and Facial clefts" RELATED [OMIM:601357] +synonym: "brachial amelia, forebrain defects, and Facial clefts" RELATED [] xref: MEDGEN:321957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536713 {source="MONDO:equivalentTo"} xref: OMIM:601357 {source="MONDO:equivalentTo"} @@ -248429,14 +248470,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:3051"} subset: orphanet_rare {source="Orphanet:3051"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability-sparse hair-brachydactyly syndrome" EXACT CLINGEN_LABEL [] -synonym: "NBs" RELATED [OMIM:601358] -synonym: "NCBRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601358] -synonym: "NICOLAIDES-Baraitser syndrome" RELATED [MONDO:Lexical, OMIM:601358] -synonym: "Nicolaides-Baraitser syndrome" EXACT [Orphanet:3051] +synonym: "intellectual disability-sparse hair-brachydactyly syndrome" EXACT CLINGEN_LABEL [DOID:0081441, Orphanet:3051] +synonym: "NBs" RELATED [] +synonym: "NCBRS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "NICOLAIDES-Baraitser syndrome" RELATED [MONDO:Lexical] +synonym: "Nicolaides-Baraitser syndrome" EXACT [DOID:0081441, OMIM:601358, Orphanet:3051] synonym: "SMARCA2-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] -synonym: "sparse hair and intellectual disability" RELATED [OMIM:601358] -synonym: "sparse hair and mental retardation" RELATED DEPRECATED [OMIM:601358] +synonym: "sparse hair and intellectual disability" RELATED [] +synonym: "sparse hair and mental retardation" RELATED DEPRECATED [] xref: DOID:0081441 {source="MONDO:equivalentTo"} xref: GARD:270 {source="MONDO:GARD"} xref: MEDGEN:220983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -248464,8 +248505,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1027"} subset: orphanet_rare {source="Orphanet:1027"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amelia, autosomal recessive" RELATED [OMIM:601360] -synonym: "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome" EXACT [OMIM:601360, OMIM:genemap2] +synonym: "amelia, autosomal recessive" RELATED [] +synonym: "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome" EXACT [OMIM:601360] xref: GARD:16554 {source="MONDO:GARD"} xref: ICD10CM:Q73.0 {source="Orphanet:1027", source="Orphanet:1027/attributed", source="Orphanet:1027/ntbt"} xref: MEDGEN:321955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -248498,13 +248539,13 @@ synonym: "10p monosomy" RELATED [GARD:0001323] synonym: "10p13-p14 Deletion syndrome" EXACT [NCIT:C130982] synonym: "chromosome 10p deletion" RELATED [GARD:0001323] synonym: "deletion 10p" RELATED [GARD:0001323] -synonym: "Dgs2" RELATED [OMIM:601362] +synonym: "Dgs2" RELATED [] synonym: "DiGeorge syndrome type 2" EXACT [NCIT:C130982] -synonym: "DiGeorge syndrome/velocardiofacial syndrome complex 2" RELATED [OMIM:601362] -synonym: "DiGeorge syndrome/velocardiofacial syndrome Complex type 2" EXACT [MONDORULE:1, OMIM:601362] -synonym: "DiGeorge syndrome/velocardiofacial syndrome complex-2" EXACT [OMIM:601362, OMIM:genemap2] -synonym: "distal 10p deletion" EXACT [Orphanet:1580] -synonym: "distal monosomy type 10p" EXACT [MONDORULE:4, Orphanet:1580] +synonym: "DiGeorge syndrome/velocardiofacial syndrome complex 2" RELATED [] +synonym: "DiGeorge syndrome/velocardiofacial syndrome Complex type 2" EXACT [MONDORULE:1] +synonym: "DiGeorge syndrome/velocardiofacial syndrome complex-2" EXACT [] +synonym: "distal 10p deletion" EXACT [] +synonym: "distal monosomy type 10p" EXACT [MONDORULE:4] synonym: "monosomy 10p" RELATED [GARD:0001323] synonym: "monosomy 10pter" EXACT [Orphanet:1580] synonym: "partial monosomy 10p" RELATED [GARD:0001323] @@ -248531,13 +248572,13 @@ name: Wilms tumor 4 subset: gard_rare {source="GARD:15328", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "familial Wilms tumor 1" RELATED [OMIM:601363] +synonym: "familial Wilms tumor 1" RELATED [] synonym: "familial Wilms tumour 1" RELATED OMO:0003005 [] synonym: "Wilms tumor 4" EXACT [OMIM:601363] -synonym: "Wilms tumor type 4" EXACT [MONDORULE:1, OMIM:601363] -synonym: "Wilms tumor, type 4" EXACT [OMIM:601363, OMIM:genemap2] +synonym: "Wilms tumor type 4" EXACT [MONDORULE:1] +synonym: "Wilms tumor, type 4" EXACT [] synonym: "Wilms tumour type 4" EXACT OMO:0003005 [] -synonym: "WT4" RELATED ABBREVIATION [OMIM:601363] +synonym: "WT4" RELATED ABBREVIATION [] xref: GARD:15328 {source="MONDO:GARD"} xref: MEDGEN:318623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563336 {source="MONDO:equivalentTo"} @@ -248553,13 +248594,13 @@ id: MONDO:0011057 name: cerebrovascular disorder def: "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction." [NCIT:C2938] subset: otar {source="MONDO:OTAR"} -synonym: "cerebral infarction" NARROW [OMIM:601367] -synonym: "cerebrovascular accident" NARROW [DOID:6713] -synonym: "cerebrovascular disease" EXACT [ISBN-13:978-1-259-64403-0, NCIT:C2938] +synonym: "cerebral infarction" NARROW [] +synonym: "cerebrovascular accident" NARROW [] +synonym: "cerebrovascular disease" EXACT [DOID:6713, ISBN-13:978-1-259-64403-0, NCIT:C2938] synonym: "cerebrovascular disorder" EXACT [DOID:6713, NCIT:C2938] -synonym: "CVA" NARROW ABBREVIATION [DOID:6713] -synonym: "CVA (cerebral vascular accident)" NARROW [DOID:6713] -synonym: "stroke" NARROW [DOID:6713] +synonym: "CVA" NARROW ABBREVIATION [] +synonym: "CVA (cerebral vascular accident)" NARROW [] +synonym: "stroke" NARROW [] xref: DOID:6713 {source="EFO:0003763", source="MONDO:equivalentTo"} xref: EFO:0003763 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:I60-I69 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="DOID:6713", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -248602,14 +248643,14 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18105", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 9" NARROW [DOID:0110593] -synonym: "autosomal dominant nonsyndromic deafness 9" NARROW [OMIM:601369] +synonym: "autosomal dominant deafness 9" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 9" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COCH" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 9" NARROW [DOID:0110593, MONDORULE:1] +synonym: "autosomal dominant nonsyndromic deafness type 9" NARROW [MONDORULE:1] synonym: "COCH autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal dominant 9" NARROW [MONDO:Lexical, OMIM:601369, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 9" NARROW [MONDORULE:1, OMIM:601369] -synonym: "DFNA9" NARROW ABBREVIATION [DOID:0110593, MONDO:Lexical, OMIM:601369] +synonym: "deafness, autosomal dominant 9" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 9" NARROW [MONDORULE:1] +synonym: "DFNA9" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110593 {source="MONDO:equivalentTo"} xref: GARD:18105 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110593"} @@ -248638,7 +248679,7 @@ synonym: "camera Lituania Cohen syndrome" RELATED [GARD:0002454] synonym: "Camero-Lituania-Cohen syndrome" EXACT [Orphanet:2163] synonym: "Genoa syndrome" EXACT [OMIM:601370, Orphanet:2163] synonym: "holoprosencephaly craniosynostosis" RELATED [GARD:0002454] -synonym: "holoprosencephaly, SEMILOBAR, with craniosynostosis" RELATED [OMIM:601370] +synonym: "holoprosencephaly, SEMILOBAR, with craniosynostosis" RELATED [] synonym: "Semilobar holoprosencephaly and primary craniosynostosis" RELATED [GARD:0002454] xref: GARD:2454 {source="MONDO:GARD"} xref: ICD10CM:Q04.2 {source="MONDO:relatedTo", source="Orphanet:2163/attributed", source="Orphanet:2163/ntbt", source="Orphanet:2163"} @@ -248663,8 +248704,8 @@ subset: ordo_disorder {source="Orphanet:91492"} subset: orphanet_rare {source="Orphanet:91492"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cataract, age-related nuclear" RELATED [OMIM:601371] -synonym: "nuclear sclerosis of the lens" RELATED [OMIM:601371] +synonym: "cataract, age-related nuclear" RELATED [] +synonym: "nuclear sclerosis of the lens" RELATED [] xref: GARD:16801 {source="MONDO:GARD"} xref: ICD10CM:Q12.0 {source="Orphanet:91492", source="Orphanet:91492/e", source="Orphanet:91492/specific"} xref: icd11.foundation:1080602978 {source="Orphanet:91492", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -248700,7 +248741,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1126"} subset: orphanet_rare {source="Orphanet:1126"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aprosencephaly and cerebellar dysgenesis" RELATED [OMIM:601374] +synonym: "aprosencephaly and cerebellar dysgenesis" RELATED [] xref: GARD:4518 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:1126", source="Orphanet:1126/attributed", source="Orphanet:1126/ntbt"} xref: MEDGEN:330459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -248724,7 +248765,7 @@ subset: orphanet_rare {source="Orphanet:1808"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Christianson-Fourie syndrome" EXACT [Orphanet:1808] -synonym: "ectodermal dysplasia, hidrotic, Christianson-Fourie type" RELATED [OMIM:601375] +synonym: "ectodermal dysplasia, hidrotic, Christianson-Fourie type" RELATED [] xref: GARD:2682 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:1808", source="Orphanet:1808/attributed", source="Orphanet:1808/ntbt"} xref: icd11.foundation:661397711 {source="MONDO:equivalentTo"} @@ -248743,7 +248784,7 @@ subset: gard_rare {source="GARD:3226", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:1421"} subset: rare -synonym: "chondrodysplasia, lethal, with long bone angulation and mixed bone density" RELATED [OMIM:601376] +synonym: "chondrodysplasia, lethal, with long bone angulation and mixed bone density" RELATED [] synonym: "lethal chondrodysplasia seller type" RELATED [GARD:0003226] xref: GARD:3226 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:1421/attributed", source="Orphanet:1421/ntbt", source="Orphanet:1421"} @@ -248771,7 +248812,7 @@ subset: orphanet_rare {source="Orphanet:97340"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature" RELATED [GARD:0002754] -synonym: "Hunter-McAlpine craniosynostosis syndrome" RELATED [OMIM:601379] +synonym: "Hunter-McAlpine craniosynostosis syndrome" RELATED [] synonym: "Hunter-McAlpine syndrome" RELATED [GARD:0002754] xref: GARD:2754 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:97340/attributed", source="Orphanet:97340/ntbt", source="Orphanet:97340"} @@ -248799,12 +248840,12 @@ subset: rare synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" EXACT [DOID:0110191] synonym: "Charcot Marie Tooth disease type 4B1" RELATED [GARD:0001253] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease type 4B1" EXACT CLINGEN_LABEL [] -synonym: "Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1" RELATED [OMIM:601382] -synonym: "Charcot-Marie-Tooth disease, type 4B" RELATED [OMIM:601382] -synonym: "Charcot-Marie-Tooth disease, type 4B1" RELATED [MONDO:Lexical, OMIM:601382] +synonym: "Charcot-Marie-Tooth disease type 4B1" EXACT CLINGEN_LABEL [DOID:0110191, icd11.foundation:776238355, Orphanet:99955] +synonym: "Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 4B" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 4B1" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy type 4B1" EXACT [DOID:0110191] -synonym: "Charcot-Marie-Tooth neuropathy, type 4B1" RELATED [OMIM:601382] +synonym: "Charcot-Marie-Tooth neuropathy, type 4B1" RELATED [] synonym: "CMT 4B" RELATED [GARD:0001253] synonym: "CMT 4B1" RELATED [GARD:0001253] synonym: "CMT4B1" EXACT ABBREVIATION [DOID:0110191, MONDO:Lexical, OMIM:601382, Orphanet:99955] @@ -248833,14 +248874,14 @@ def: "An autosomal recessive nonsyndromic deafness that is characterized by prel subset: gard_rare {source="GARD:22590", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 12" NARROW [DOID:0110467] -synonym: "autosomal recessive nonsyndromic deafness 12" NARROW [OMIM:601386] -synonym: "autosomal recessive nonsyndromic deafness type 12" NARROW [DOID:0110467, MONDORULE:2] +synonym: "autosomal recessive deafness 12" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 12" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 12" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 12" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 12" NARROW [MONDO:Lexical, OMIM:601386, OMIM:genemap2] -synonym: "deafness, autosomal recessive 12, modifier of" NARROW [OMIM:601386, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 12" NARROW [MONDORULE:2, OMIM:601386] -synonym: "DFNB12" NARROW ABBREVIATION [DOID:0110467, MONDO:Lexical, OMIM:601386] +synonym: "deafness, autosomal recessive 12" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive 12, modifier of" NARROW [] +synonym: "deafness, autosomal recessive type 12" NARROW [MONDORULE:2] +synonym: "DFNB12" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110467 {source="MONDO:equivalentTo"} xref: GARD:22590 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110467"} @@ -248857,9 +248898,9 @@ id: MONDO:0011068 name: type 1 diabetes mellitus 12 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] synonym: "CTLA4 type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "diabetes mellitus, insulin-dependent, 12" RELATED [MONDO:Lexical, OMIM:601388] -synonym: "diabetes mellitus, insulin-dependent, type 12" EXACT [MONDORULE:2, OMIM:601388] -synonym: "IDDM12" EXACT ABBREVIATION [DOID:0110751, MONDO:Lexical, OMIM:601388] +synonym: "diabetes mellitus, insulin-dependent, 12" RELATED [MONDO:Lexical] +synonym: "diabetes mellitus, insulin-dependent, type 12" EXACT [MONDORULE:2] +synonym: "IDDM12" EXACT ABBREVIATION [DOID:0110751, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 12" EXACT [DOID:0110751, OMIM:601388] synonym: "type 1 diabetes mellitus caused by mutation in CTLA4" EXACT [MONDO:design_pattern] xref: DOID:0110751 {source="MONDO:equivalentTo"} @@ -248897,13 +248938,13 @@ def: "Any van Maldergem syndrome in which the cause of the disease is a mutation subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Cerebrofacioarticular syndrome" RELATED [OMIM:601390] +synonym: "Cerebrofacioarticular syndrome" RELATED [] synonym: "DCHS1 van Maldergem syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "VAN Maldergem syndrome 1" RELATED [OMIM:601390] -synonym: "van Maldergem syndrome 1" EXACT [MONDO:Lexical, OMIM:601390] +synonym: "VAN Maldergem syndrome 1" RELATED [] +synonym: "van Maldergem syndrome 1" EXACT [DOID:0080585, MONDO:Lexical, OMIM:601390] synonym: "van Maldergem syndrome caused by mutation in DCHS1" EXACT [MONDO:design_pattern] -synonym: "Van Maldergem syndrome type 1" EXACT [MONDORULE:1, OMIM:601390] -synonym: "VMLDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601390] +synonym: "Van Maldergem syndrome type 1" EXACT [MONDORULE:1] +synonym: "VMLDS1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080585 {source="MONDO:equivalentTo"} xref: MEDGEN:1644627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601390 {source="MONDO:equivalentTo"} @@ -248926,19 +248967,19 @@ subset: orphanet_rare {source="Orphanet:71290"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "asprin-like platelet disorder" RELATED EXCLUDE [GARD:0010352] -synonym: "familial platelet disorder with associated myeloid malignancy" RELATED EXCLUDE [Orphanet:71290] +synonym: "familial platelet disorder with associated myeloid malignancy" RELATED EXCLUDE [] synonym: "familial platelet syndrome with predisposition to acute myelogenous leukaemia" RELATED OMO:0003005 [] -synonym: "familial platelet syndrome with predisposition to acute myelogenous leukemia" RELATED EXCLUDE [Orphanet:71290] +synonym: "familial platelet syndrome with predisposition to acute myelogenous leukemia" RELATED EXCLUDE [] synonym: "familial thrombocytopenia with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "familial thrombocytopenia with propensity to acute myelogenous leukemia" RELATED EXCLUDE [GARD:0010352] -synonym: "FPD/AML syndrome" RELATED EXCLUDE [Orphanet:71290] -synonym: "FPDMM" RELATED EXCLUDE [MONDO:Lexical, OMIM:601399] -synonym: "FPS/AML syndrome" RELATED EXCLUDE [Orphanet:71290] +synonym: "FPD/AML syndrome" RELATED EXCLUDE [] +synonym: "FPDMM" RELATED EXCLUDE [MONDO:Lexical] +synonym: "FPS/AML syndrome" RELATED EXCLUDE [] synonym: "hereditary thrombocytopenia and hematologic cancer predisposition syndrome" EXACT CLINGEN_LABEL [] -synonym: "platelet disorder, aspirin-like" RELATED EXCLUDE [OMIM:601399] -synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED EXCLUDE [MONDO:Lexical, OMIM:601399] +synonym: "platelet disorder, aspirin-like" RELATED EXCLUDE [] +synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED EXCLUDE [MONDO:Lexical] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] -synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED EXCLUDE [OMIM:601399] +synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED EXCLUDE [] xref: GARD:10352 {source="MONDO:GARD"} xref: ICD10CM:D69.4 {source="Orphanet:71290", source="Orphanet:71290/attributed", source="Orphanet:71290/ntbt"} xref: MESH:C563324 {source="MONDO:equivalentTo"} @@ -248954,8 +248995,8 @@ name: diabetes mellitus, noninsulin-dependent, 2 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "diabetes mellitus, noninsulin-dependent, 2" EXACT [MONDO:Lexical, OMIM:601407] -synonym: "NIDDM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601407] -synonym: "noninsulin-dependent diabetes mellitus 2" RELATED [OMIM:601407] +synonym: "NIDDM2" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "noninsulin-dependent diabetes mellitus 2" RELATED [] xref: MEDGEN:321944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563323 {source="MONDO:equivalentTo"} xref: OMIM:601407 {source="MONDO:equivalentTo"} @@ -248971,12 +249012,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:99886"} subset: orphanet_rare {source="Orphanet:99886"} subset: rare -synonym: "diabetes mellitus, transient neonatal 1" EXACT [OMIM:601410, OMIM:genemap2] +synonym: "diabetes mellitus, transient neonatal 1" EXACT [] synonym: "diabetes mellitus, transient neonatal, 1" EXACT [OMIM:601410] -synonym: "diabetes mellitus, transient neonatal, type 1" EXACT [MONDORULE:1, OMIM:601410] -synonym: "Dmtn" RELATED [OMIM:601410] -synonym: "Tndm" RELATED [OMIM:601410] -synonym: "Tndm1" RELATED [OMIM:601410] +synonym: "diabetes mellitus, transient neonatal, type 1" EXACT [MONDORULE:1] +synonym: "Dmtn" RELATED [] +synonym: "Tndm" RELATED [] +synonym: "Tndm1" RELATED [] xref: GARD:1839 {source="MONDO:GARD"} xref: MEDGEN:371317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563322 {source="MONDO:equivalentTo"} @@ -248995,11 +249036,11 @@ subset: gard_rare {source="GARD:18106", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant deafness 7" NARROW [DOID:0110591] -synonym: "autosomal dominant nonsyndromic deafness 7" NARROW [OMIM:601412] -synonym: "autosomal dominant nonsyndromic deafness type 7" NARROW [DOID:0110591, MONDORULE:1] -synonym: "deafness, autosomal dominant 7" NARROW [MONDO:Lexical, OMIM:601412, OMIM:genemap2] -synonym: "DFNA7" NARROW ABBREVIATION [DOID:0110591, MONDO:Lexical, OMIM:601412] +synonym: "autosomal dominant deafness 7" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 7" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 7" NARROW [MONDORULE:1] +synonym: "deafness, autosomal dominant 7" NARROW [MONDO:Lexical] +synonym: "DFNA7" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110591 {source="MONDO:equivalentTo"} xref: GARD:18106 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110591"} @@ -249020,9 +249061,9 @@ subset: gard_rare {source="GARD:10392", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PRPF3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 18" EXACT [MONDO:Lexical, OMIM:601414] +synonym: "retinitis pigmentosa 18" EXACT [DOID:0110356, MONDO:Lexical, OMIM:601414] synonym: "retinitis pigmentosa caused by mutation in PRPF3" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 18" EXACT [DOID:0110356, MONDORULE:2, OMIM:601414] +synonym: "retinitis pigmentosa type 18" EXACT [MONDORULE:2] synonym: "RP 18" RELATED [GARD:0010392] synonym: "RP18" EXACT ABBREVIATION [DOID:0110356, MONDO:Lexical, OMIM:601414] xref: DOID:0110356 {source="MONDO:equivalentTo"} @@ -249047,38 +249088,38 @@ subset: ordo_disorder {source="Orphanet:98909"} subset: orphanet_rare {source="Orphanet:98909"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arrhythmogenic right ventricular cardiomyopathy 7" RELATED [OMIM:601419] -synonym: "arrhythmogenic right ventricular cardiomyopathy 7, formerly" RELATED [OMIM:601419] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 7" RELATED [OMIM:601419] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 7, formerly" RELATED [OMIM:601419] +synonym: "arrhythmogenic right ventricular cardiomyopathy 7" RELATED [] +synonym: "arrhythmogenic right ventricular cardiomyopathy 7, formerly" RELATED [] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 7" RELATED [] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 7, formerly" RELATED [] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency" RELATED EXCLUDE [DOID:0110286, Orphanet:363543] -synonym: "autosomal recessive limb-girdle muscular dystrophy type 2R" EXACT [MONDO:0014129] -synonym: "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D" RELATED [OMIM:601419] -synonym: "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly" RELATED [OMIM:601419] -synonym: "cardiomyopathy, dilated, with conduction defect and muscular dystrophy" RELATED [OMIM:601419] -synonym: "CMD1F and LGMD1D" RELATED DEPRECATED [OMIM:601419] -synonym: "CMD1F and LGMD1D, formerly" RELATED [OMIM:601419] +synonym: "autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency" RELATED EXCLUDE [] +synonym: "autosomal recessive limb-girdle muscular dystrophy type 2R" EXACT [DOID:0080092, MONDO:0014129] +synonym: "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D" RELATED [] +synonym: "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly" RELATED [] +synonym: "cardiomyopathy, dilated, with conduction defect and muscular dystrophy" RELATED [] +synonym: "CMD1F and LGMD1D" RELATED DEPRECATED [] +synonym: "CMD1F and LGMD1D, formerly" RELATED [] synonym: "DES autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DES myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "desmin-related myofibrillar myopathy" EXACT [Orphanet:98909] -synonym: "desmin-related myopathy" RELATED [OMIM:601419] -synonym: "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy" RELATED [OMIM:601419] -synonym: "desminopathy" EXACT [DOID:0080092] -synonym: "desminopathy, primary" RELATED [OMIM:601419] +synonym: "desmin-related myopathy" RELATED [] +synonym: "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy" RELATED [] +synonym: "desminopathy" EXACT [DOID:0080092, Orphanet:98909] +synonym: "desminopathy, primary" RELATED [] synonym: "IBM1" RELATED DEPRECATED [Wikipedia:Hereditary_inclusion_body_myopathy] -synonym: "inclusion body myopathy 1, autosomal dominant" RELATED [OMIM:601419] -synonym: "inclusion body myopathy 1, autosomal dominant, formerly" RELATED [OMIM:601419] -synonym: "LGMD2R" RELATED EXCLUDE [DOID:0110286, MONDO:Lexical, OMIM:615325, Orphanet:363543] -synonym: "MFM1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601419] -synonym: "muscular dystrophy, limb-girdle, type 2R" RELATED EXCLUDE [DOID:0110286, MONDO:Lexical, OMIM:615325] +synonym: "inclusion body myopathy 1, autosomal dominant" RELATED [] +synonym: "inclusion body myopathy 1, autosomal dominant, formerly" RELATED [] +synonym: "LGMD2R" RELATED EXCLUDE [MONDO:Lexical] +synonym: "MFM1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "muscular dystrophy, limb-girdle, type 2R" RELATED EXCLUDE [MONDO:Lexical] synonym: "myofibrillar myopathy (disease) caused by mutation in DES" EXACT [] -synonym: "myofibrillar myopathy 1" EXACT CLINGEN_LABEL [] -synonym: "myofibrillar myopathy type 1" EXACT [DOID:0080092, MONDORULE:1] -synonym: "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy" RELATED [OMIM:601419] -synonym: "myopathy, myofibrillar, 1" RELATED [MONDO:Lexical, OMIM:601419] -synonym: "myopathy, myofibrillar, desmin-related" RELATED [OMIM:601419] -synonym: "myopathy, myofibrillar, type 1" EXACT [MONDORULE:1, OMIM:601419] +synonym: "myofibrillar myopathy 1" EXACT CLINGEN_LABEL [DOID:0080092] +synonym: "myofibrillar myopathy type 1" EXACT [MONDORULE:1] +synonym: "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy" RELATED [] +synonym: "myopathy, myofibrillar, 1" RELATED [MONDO:Lexical] +synonym: "myopathy, myofibrillar, desmin-related" RELATED [] +synonym: "myopathy, myofibrillar, type 1" EXACT [MONDORULE:1] xref: DOID:0080092 {source="MONDO:equivalentTo"} xref: DOID:0110286 {source="MONDO:equivalentObsolete"} xref: GARD:16870 {source="MONDO:GARD"} @@ -249152,7 +249193,7 @@ subset: rare synonym: "Patterson Lowry syndrome" RELATED [GARD:0004703] synonym: "Patterson-Lowry rhizomelic dysplasia" RELATED [GARD:0004703] synonym: "rhizomelic dysplasia Patterson Lowry type" RELATED [GARD:0004703] -synonym: "rhizomelic dysplasia, Patterson-Lowry type" EXACT [OMIM:601438] +synonym: "rhizomelic dysplasia, Patterson-Lowry type" EXACT [icd11.foundation:1681747199, OMIM:601438, Orphanet:2831] xref: GARD:4703 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:2831", source="Orphanet:2831/attributed", source="Orphanet:2831/ntbt"} xref: icd11.foundation:1681747199 {source="MONDO:equivalentTo"} @@ -249179,8 +249220,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:3235"} subset: orphanet_rare {source="Orphanet:3235"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness, progressive, with stapes fixation" RELATED [OMIM:601449] -synonym: "Stapedo-vestibular ankylosis" EXACT [Orphanet:3235] +synonym: "deafness, progressive, with stapes fixation" RELATED [] +synonym: "Stapedo-vestibular ankylosis" EXACT [icd11.foundation:1909954882, Orphanet:3235] synonym: "Thies Reis syndrome" RELATED [GARD:0005170] synonym: "Thies-Reis syndrome" EXACT [Orphanet:3235] xref: GARD:5170 {source="MONDO:GARD"} @@ -249207,9 +249248,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Collins Pope syndrome" RELATED [GARD:0001428] synonym: "Collins-Pope syndrome" EXACT [Orphanet:2412] -synonym: "dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism" RELATED [OMIM:601450] +synonym: "dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism" RELATED [] synonym: "dislocation of the hip dysmorphism" RELATED [GARD:0001428] -synonym: "hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism" RELATED [OMIM:601450] +synonym: "hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism" RELATED [] xref: GARD:1428 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:2412/attributed", source="Orphanet:2412/ntbt", source="Orphanet:2412"} xref: MEDGEN:316970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -249233,9 +249274,9 @@ subset: orphanet_rare {source="Orphanet:398156"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "OAFNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601452, Orphanet:398156] -synonym: "oculoauriculofrontonasal dysplasia" RELATED [OMIM:601452] -synonym: "OCULOAURICULOFRONTONASAL syndrome" RELATED [OMIM:601452] -synonym: "oculoauriculofrontonasal syndrome" EXACT [MONDO:Lexical, OMIM:601452] +synonym: "oculoauriculofrontonasal dysplasia" RELATED [] +synonym: "OCULOAURICULOFRONTONASAL syndrome" RELATED [] +synonym: "oculoauriculofrontonasal syndrome" EXACT [MONDO:Lexical, OMIM:601452, Orphanet:398156] xref: GARD:4031 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:398156/attributed", source="Orphanet:398156/ntbt", source="Orphanet:398156"} xref: MEDGEN:316969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -249260,7 +249301,7 @@ subset: rare synonym: "kersey syndrome" EXACT [Orphanet:3351] synonym: "Tricho-dental dysplasia" RELATED [GARD:0000265] synonym: "Tricho-dental syndrome" RELATED [GARD:0000265] -synonym: "TRICHODENTAL dysplasia" RELATED [OMIM:601453] +synonym: "TRICHODENTAL dysplasia" RELATED [] xref: GARD:265 {source="MONDO:GARD"} xref: icd11.foundation:944650339 {source="MONDO:equivalentTo"} xref: MEDGEN:96068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -249276,8 +249317,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/265/trichode id: MONDO:0011084 name: psoriasis 3, susceptibility to synonym: "psoriasis 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:601454] -synonym: "psoriasis susceptibility 3" EXACT [OMIM:601454, OMIM:genemap2] -synonym: "PSORS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601454] +synonym: "psoriasis susceptibility 3" EXACT [] +synonym: "PSORS3" EXACT ABBREVIATION [DOID:0111283, MONDO:Lexical, OMIM:601454] xref: DOID:0111283 {source="MONDO:equivalentTo"} xref: MEDGEN:316964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601454 {source="MONDO:equivalentTo"} @@ -249300,13 +249341,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D" EXACT [DOID:0110186] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease type 4D" EXACT CLINGEN_LABEL [] -synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D" RELATED [OMIM:601455] -synonym: "Charcot-Marie-Tooth disease, type 4D" RELATED [GARD:0003973, MONDO:Lexical, OMIM:601455] +synonym: "Charcot-Marie-Tooth disease type 4D" EXACT CLINGEN_LABEL [DOID:0110186, icd11.foundation:616686295, Orphanet:99950] +synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 4D" RELATED [GARD:0003973, MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy type 4D" EXACT [DOID:0110186] -synonym: "Charcot-Marie-Tooth neuropathy, type 4D" RELATED [OMIM:601455] +synonym: "Charcot-Marie-Tooth neuropathy, type 4D" RELATED [] synonym: "CMT4D" EXACT ABBREVIATION [DOID:0110186, MONDO:Lexical, OMIM:601455, Orphanet:99950] -synonym: "hereditary motor ABD sensory neuropathy Lom type" EXACT [DOID:0110186] +synonym: "hereditary motor ABD sensory neuropathy Lom type" EXACT [] synonym: "hereditary motor and sensory neuropathy, Lom type" EXACT [Orphanet:99950] synonym: "HMSN Lom type" EXACT [DOID:0110186] synonym: "HMSN, Lom type" EXACT [Orphanet:99950] @@ -249314,7 +249355,7 @@ synonym: "HMSN-Lom" EXACT [DOID:0110186, Orphanet:99950] synonym: "HMSN4D" EXACT ABBREVIATION [DOID:0110186, OMIM:601455] synonym: "HMSNL" EXACT ABBREVIATION [DOID:0110186] synonym: "NDRG1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "neuropathy, hereditary motor and sensory, Lom type" RELATED [OMIM:601455] +synonym: "neuropathy, hereditary motor and sensory, Lom type" RELATED [] synonym: "NMSL" RELATED ABBREVIATION [GARD:0003973] xref: DOID:0110186 {source="MONDO:equivalentTo"} xref: GARD:3973 {source="MONDO:GARD"} @@ -249346,11 +249387,11 @@ subset: rare synonym: "SCID due to complete RAG1-2 deficiency" EXACT [DOID:0090013] synonym: "SCID due to complete RAG1/2 deficiency" EXACT [Orphanet:331206] synonym: "SCID, AR, T-cell negative, B-cell negative, NK cell-positive" RELATED [GARD:0010339] -synonym: "SCID, T cell-negative, B cell-negative, NK cell-positive" RELATED [OMIM:601457] +synonym: "SCID, T cell-negative, B cell-negative, NK cell-positive" RELATED [] synonym: "severe combined immunodeficiency due to complete RAG1-2 deficiency" EXACT [DOID:0090013] -synonym: "severe combined immunodeficiency due to complete RAG1/2 deficiency" RELATED [Orphanet:331206] -synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" EXACT [OMIM:601457] -synonym: "severe combined immunodeficiency, B cell-negative" EXACT [OMIM:601457, OMIM:genemap2] +synonym: "severe combined immunodeficiency due to complete RAG1/2 deficiency" RELATED [] +synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" EXACT [DOID:0090013, OMIM:601457] +synonym: "severe combined immunodeficiency, B cell-negative" EXACT [] synonym: "severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" RELATED [GARD:0010339] xref: DOID:0090013 {source="MONDO:equivalentTo"} xref: GARD:10339 {source="MONDO:GARD"} @@ -249369,8 +249410,8 @@ id: MONDO:0011087 name: inflammatory bowel disease 2 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1." [DOID:0110900, PMID:8841195] synonym: "IBD2" EXACT ABBREVIATION [DOID:0110900, MONDO:Lexical, OMIM:601458] -synonym: "inflammatory bowel disease 2" EXACT [MONDO:Lexical, OMIM:601458] -synonym: "inflammatory bowel disease type 2" EXACT [DOID:0110900, MONDORULE:1] +synonym: "inflammatory bowel disease 2" EXACT [DOID:0110900, MONDO:Lexical, OMIM:601458] +synonym: "inflammatory bowel disease type 2" EXACT [MONDORULE:1] xref: DOID:0110900 {source="MONDO:equivalentTo"} xref: MEDGEN:321934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563310 {source="MONDO:equivalentTo"} @@ -249388,18 +249429,18 @@ subset: gard_rare {source="GARD:15330", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CHRNA1 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "CMS IIa" EXACT [DOID:0110663] -synonym: "Cms IIa" RELATED [OMIM:601462] -synonym: "Cms IIa, formerly" RELATED [OMIM:601462] +synonym: "CMS IIa" EXACT ABBREVIATION [DOID:0110663] +synonym: "Cms IIa" RELATED [] +synonym: "Cms IIa, formerly" RELATED [] synonym: "CMS1A" EXACT ABBREVIATION [DOID:0110663, MONDO:Lexical, OMIM:601462] -synonym: "CMS2A" RELATED EXCLUDE [DOID:0110663] +synonym: "CMS2A" RELATED EXCLUDE [] synonym: "congenital myasthenic syndrome 1A, slow-channel" EXACT [DOID:0110663] synonym: "congenital myasthenic syndrome caused by mutation in CHRNA1" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 1A" EXACT [DOID:0110663, MONDORULE:4] +synonym: "congenital myasthenic syndrome type 1A" EXACT [MONDORULE:4] synonym: "congenital myasthenic syndrome type IIa" EXACT [DOID:0110663] -synonym: "myasthenic syndrome, congenital, 1A, slow-channel" RELATED [MONDO:Lexical, OMIM:601462] -synonym: "myasthenic syndrome, congenital, type IIa" RELATED [OMIM:601462] -synonym: "myasthenic syndrome, congenital, type IIa, formerly" RELATED [OMIM:601462] +synonym: "myasthenic syndrome, congenital, 1A, slow-channel" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, type IIa" RELATED [] +synonym: "myasthenic syndrome, congenital, type IIa, formerly" RELATED [] xref: DOID:0110663 {source="MONDO:equivalentTo"} xref: GARD:15330 {source="MONDO:GARD"} xref: MEDGEN:419336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -249420,8 +249461,8 @@ def: "Patent ductus venosus (PDV) is an extremely rare form of congenital portos subset: inferred_rare subset: rare synonym: "patent ductus venosus" EXACT [MONDO:Lexical, OMIM:601466] -synonym: "PDV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601466] -synonym: "portosystemic Venous shunt, congenital" RELATED [OMIM:601466] +synonym: "PDV" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "portosystemic Venous shunt, congenital" RELATED [] synonym: "PSVS" RELATED ABBREVIATION [GARD:0010483] xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:91033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -249446,9 +249487,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:306527"} subset: orphanet_rare {source="Orphanet:306527"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "facial palsy, congenital, unilateral or bilateral" RELATED [OMIM:601471] +synonym: "facial palsy, congenital, unilateral or bilateral" RELATED [] synonym: "facial paresis hereditary congenital" RELATED [GARD:0008583] -synonym: "facial paresis, hereditary congenital" RELATED [OMIMPS:601471] +synonym: "facial paresis, hereditary congenital" RELATED [] synonym: "HCFP" BROAD ABBREVIATION [] synonym: "hereditary congenital facial paresis" RELATED [GARD:0008583] synonym: "MBS2 (formerly)" RELATED [GARD:0008583] @@ -249480,15 +249521,15 @@ subset: ordo_disorder {source="Orphanet:99938"} subset: orphanet_rare {source="Orphanet:99938"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2D" EXACT [DOID:0110164] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2D" EXACT [DOID:0110164, Orphanet:99938] synonym: "Charcot Marie Tooth disease type 2D" RELATED [GARD:0001251] synonym: "Charcot-Marie-Tooth disease neuronal type 2D" EXACT [DOID:0110164] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in GARS" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2D" RELATED [GARD:0001251, MONDO:Lexical, OMIM:601472] -synonym: "Charcot-Marie-Tooth disease, neuronal, type 2D" RELATED [OMIM:601472] -synonym: "Charcot-Marie-Tooth disease, type 2D" EXACT [OMIM:601472, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2D" RELATED [GARD:0001251, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, neuronal, type 2D" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 2D" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2D" EXACT [DOID:0110164] -synonym: "Charcot-Marie-Tooth neuropathy, type 2D" RELATED [OMIM:601472] +synonym: "Charcot-Marie-Tooth neuropathy, type 2D" RELATED [] synonym: "CMT 2D" RELATED [GARD:0001251] synonym: "CMT2D" EXACT ABBREVIATION [DOID:0110164, MONDO:Lexical, OMIM:601472, Orphanet:99938] synonym: "GARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -249516,7 +249557,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1251/charcot id: MONDO:0011092 name: ribbing disease def: "Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described." [https://rarediseases.info.nih.gov/diseases/8494/ribbing-disease] -synonym: "diaphyseal sclerosis, multiple" RELATED [OMIM:601477] +synonym: "diaphyseal sclerosis, multiple" RELATED [] synonym: "hereditary multiple diaphyseal sclerosis" RELATED [GARD:0008494] synonym: "multiple diaphyseal sclerosis" RELATED [GARD:0008494] synonym: "ribbing disease" EXACT [OMIM:601477] @@ -249538,15 +249579,15 @@ subset: ordo_disorder {source="Orphanet:67041"} subset: orphanet_rare {source="Orphanet:67041"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyaluronidase deficiency" RELATED [OMIM:601492] -synonym: "MPS 9" RELATED [OMIM:601492] -synonym: "MPS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601492, Orphanet:67041] +synonym: "hyaluronidase deficiency" RELATED [] +synonym: "MPS 9" RELATED [] +synonym: "MPS9" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C129073, OMIM:601492, Orphanet:67041] synonym: "MPSIX" EXACT ABBREVIATION [Orphanet:67041] -synonym: "mucopolysaccharidosis IX" RELATED [DOID:0050809] -synonym: "mucopolysaccharidosis type 9" EXACT [Orphanet:67041] -synonym: "mucopolysaccharidosis type IX" EXACT [DOID:0050809, MONDORULE:3, Orphanet:67041] -synonym: "mucopolysaccharidosis, type 9" RELATED [OMIM:601492] -synonym: "mucopolysaccharidosis, type IX" RELATED [MONDO:Lexical, OMIM:601492] +synonym: "mucopolysaccharidosis IX" RELATED [] +synonym: "mucopolysaccharidosis type 9" EXACT [icd11.foundation:952591271, Orphanet:67041] +synonym: "mucopolysaccharidosis type IX" EXACT [MONDORULE:3, NCIT:C129073, Orphanet:67041] +synonym: "mucopolysaccharidosis, type 9" RELATED [] +synonym: "mucopolysaccharidosis, type IX" RELATED [MONDO:Lexical] xref: DOID:0050809 {source="MONDO:equivalentTo"} xref: GARD:16675 {source="MONDO:GARD"} xref: ICD10CM:E76.2 {source="Orphanet:67041", source="Orphanet:67041/attributed", source="Orphanet:67041/ntbt"} @@ -249575,15 +249616,15 @@ def: "A dilated cardiomyopathy that has material basis in mutation in the LDB3 g subset: gard_rare {source="GARD:15331", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction" RELATED [MONDO:Lexical, OMIM:601493] -synonym: "cardiomyopathy, dilated, 1C, with or without LVNC" EXACT [OMIM:601493, OMIM:genemap2] -synonym: "cardiomyopathy, familial hypertrophic, 24" RELATED [OMIM:601493] -synonym: "cardiomyopathy, hypertrophic, 24" EXACT [OMIM:601493, OMIM:genemap2] -synonym: "CMD1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601493] +synonym: "cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, 1C, with or without LVNC" EXACT [] +synonym: "cardiomyopathy, familial hypertrophic, 24" RELATED [] +synonym: "cardiomyopathy, hypertrophic, 24" EXACT [] +synonym: "CMD1C" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CMDC1" EXACT ABBREVIATION [DOID:0110423] synonym: "dilated cardiomyopathy 1C with or without left ventricular noncompaction" EXACT [DOID:0110423] -synonym: "dilated cardiomyopathy type 1C" EXACT [DOID:0110423, MONDORULE:4] -synonym: "left ventricular noncompaction 3" RELATED [OMIM:601493] +synonym: "dilated cardiomyopathy type 1C" EXACT [MONDORULE:4] +synonym: "left ventricular noncompaction 3" RELATED [] xref: DOID:0110423 {source="MONDO:equivalentTo"} xref: GARD:15331 {source="MONDO:GARD"} xref: ICD10CM:I42.0 {source="DOID:0110423"} @@ -249606,13 +249647,13 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15332", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1D" RELATED [MONDO:Lexical, OMIM:601494] -synonym: "cardiomyopathy, dilated, type 1D" EXACT [MONDORULE:4, OMIM:601494] +synonym: "cardiomyopathy, dilated, 1D" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1D" EXACT [MONDORULE:4] synonym: "CMD1D" EXACT ABBREVIATION [DOID:0110426, MONDO:Lexical, OMIM:601494] -synonym: "dilated cardiomyopathy 1D" EXACT CLINGEN_LABEL [] -synonym: "dilated cardiomyopathy type 1D" EXACT [DOID:0110426, MONDORULE:4] +synonym: "dilated cardiomyopathy 1D" EXACT CLINGEN_LABEL [DOID:0110426] +synonym: "dilated cardiomyopathy type 1D" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern] -synonym: "left ventricular noncompaction 6" RELATED [OMIM:601494] +synonym: "left ventricular noncompaction 6" RELATED [] synonym: "TNNT2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110426 {source="MONDO:equivalentTo"} xref: GARD:15332 {source="MONDO:GARD"} @@ -249636,7 +249677,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:33110"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [OMIM:601495] +synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [] synonym: "agammaglobulinemia, non-Bruton type" EXACT [Orphanet:33110] synonym: "AGM" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] xref: GARD:9640 {source="MONDO:GARD"} @@ -249657,10 +249698,10 @@ def: "An Axenfeld-Rieger syndrome that has material basis in deletions in the re subset: gard_rare {source="GARD:10517", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Axenfeld-Rieger syndrome, type 2" RELATED [MONDO:Lexical, OMIM:601499] +synonym: "Axenfeld-Rieger syndrome, type 2" RELATED [MONDO:Lexical] synonym: "RIEG2" EXACT ABBREVIATION [DOID:0110121, MONDO:Lexical, OMIM:601499] synonym: "Rieger syndrome type 2" EXACT [DOID:0110121] -synonym: "Rieger syndrome, type 2" RELATED [OMIM:601499] +synonym: "Rieger syndrome, type 2" RELATED [] xref: DOID:0110121 {source="MONDO:equivalentTo"} xref: GARD:10517 {source="MONDO:GARD"} xref: ICD10CM:Q13.8 {source="DOID:0110121"} @@ -249678,11 +249719,11 @@ def: "Any familial prostate cancer in which the cause of the disease is a mutati subset: gard_rare {source="GARD:15334", source="MONDO:GARD"} subset: rare synonym: "familial prostate cancer caused by mutation in RNASEL" EXACT [MONDO:design_pattern] -synonym: "HPC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601518] -synonym: "Prca1" RELATED [OMIM:601518] -synonym: "prostate cancer 1" EXACT [OMIM:601518, OMIM:genemap2] +synonym: "HPC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Prca1" RELATED [] +synonym: "prostate cancer 1" EXACT [] synonym: "prostate cancer, hereditary, 1" EXACT [MONDO:Lexical, OMIM:601518] -synonym: "prostate cancer, hereditary, type 1" EXACT [MONDORULE:1, OMIM:601518] +synonym: "prostate cancer, hereditary, type 1" EXACT [MONDORULE:1] synonym: "RNASEL familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15334 {source="MONDO:GARD"} xref: MEDGEN:1648436 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -249704,13 +249745,13 @@ subset: ordo_disorder {source="Orphanet:69739"} subset: orphanet_rare {source="Orphanet:69739"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ABDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601536] +synonym: "ABDS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ABSD" EXACT ABBREVIATION [Orphanet:69739] synonym: "Athabascan brainstem dysgenesis syndrome" EXACT [Orphanet:69739] synonym: "Athabaskan brainstem dysgenesis" RELATED [GARD:0008333] -synonym: "Athabaskan brainstem dysgenesis syndrome" EXACT [MONDO:Lexical, OMIM:601536] +synonym: "Athabaskan brainstem dysgenesis syndrome" EXACT [DOID:0050682, MONDO:Lexical, OMIM:601536, Orphanet:69739] synonym: "Bosley Salih Alorainy syndrome" RELATED [GARD:0008333] -synonym: "Bosley-Salih-Alorainy syndrome" RELATED [OMIM:601536] +synonym: "Bosley-Salih-Alorainy syndrome" RELATED [] synonym: "BSAS" RELATED ABBREVIATION [GARD:0008333] synonym: "Human HOXA1 syndromes" RELATED [GARD:0008333] synonym: "Navajo brainstem syndrome" EXACT [DOID:0050682, OMIM:601536, Orphanet:69739] @@ -249746,15 +249787,15 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adrenoleukodystrophy, autosomal neonatal" RELATED [OMIM:601539] -synonym: "infantile phytanic acid storage disease" RELATED [OMIM:601539] -synonym: "PBD1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601539] -synonym: "peroxisome biogenesis disorder (NALD/Ird)" RELATED [OMIM:601539] -synonym: "peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)" RELATED [OMIM:601539] -synonym: "peroxisome biogenesis disorder 1B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:601539] -synonym: "peroxisome biogenesis disorder 1B (NALD/IRD)" EXACT [OMIM:601539, OMIM:genemap2] -synonym: "peroxisome biogenesis disorder type 1B" EXACT [MONDORULE:4, OMIM:601539] -synonym: "Refsum disease, infantile" RELATED [OMIM:601539] +synonym: "adrenoleukodystrophy, autosomal neonatal" RELATED [] +synonym: "infantile phytanic acid storage disease" RELATED [] +synonym: "PBD1B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder (NALD/Ird)" RELATED [] +synonym: "peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)" RELATED [] +synonym: "peroxisome biogenesis disorder 1B" EXACT CLINGEN_LABEL [DOID:0081240, MONDO:Lexical, NCIT:C155749, OMIM:601539] +synonym: "peroxisome biogenesis disorder 1B (NALD/IRD)" EXACT [] +synonym: "peroxisome biogenesis disorder type 1B" EXACT [MONDORULE:4] +synonym: "Refsum disease, infantile" RELATED [] xref: DOID:0081240 {source="MONDO:equivalentTo"} xref: MEDGEN:79470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C155749 {source="MONDO:equivalentTo"} @@ -249776,18 +249817,18 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18107", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 12" NARROW [DOID:0110544] -synonym: "autosomal dominant deafness 8" NARROW [DOID:0110544] -synonym: "autosomal dominant nonsyndromic deafness 12" NARROW [OMIM:601543] +synonym: "autosomal dominant deafness 12" NARROW [] +synonym: "autosomal dominant deafness 8" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 12" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TECTA" NARROW [MONDO:patterns/disease_series_by_gene] -synonym: "autosomal dominant nonsyndromic deafness type 12" NARROW [DOID:0110544, MONDORULE:2] +synonym: "autosomal dominant nonsyndromic deafness type 12" NARROW [MONDORULE:2] synonym: "autosomal dominant nonsyndromic hearing loss 12" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal dominant 12" NARROW [MONDO:Lexical, OMIM:601543] -synonym: "deafness, autosomal dominant 8" NARROW [OMIM:601543] -synonym: "deafness, autosomal dominant 8/12" NARROW [OMIM:601543, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 12" NARROW [MONDORULE:2, OMIM:601543] -synonym: "DFNA12" NARROW ABBREVIATION [DOID:0110544, MONDO:Lexical, OMIM:601543] -synonym: "DFNA8" NARROW ABBREVIATION [DOID:0110544] +synonym: "deafness, autosomal dominant 12" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant 8" NARROW [] +synonym: "deafness, autosomal dominant 8/12" NARROW [] +synonym: "deafness, autosomal dominant type 12" NARROW [MONDORULE:2] +synonym: "DFNA12" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "DFNA8" NARROW ABBREVIATION [] synonym: "TECTA autosomal dominant nonsyndromic deafness" NARROW [MONDO:patterns/disease_series_by_gene] xref: DOID:0110544 {source="MONDO:equivalentTo"} xref: GARD:18107 {source="MONDO:GARD"} @@ -249811,16 +249852,16 @@ comment: Editor note: consider adding grouping for 3A/3B subset: gard_rare {source="GARD:9933", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 3A" NARROW [DOID:0110564] -synonym: "autosomal dominant nonsyndromic deafness 3A" NARROW [OMIM:601544] +synonym: "autosomal dominant deafness 3A" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 3A" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB2" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 3A" NARROW [DOID:0110564, MONDORULE:4] -synonym: "deafness, autosomal dominant 3A" NARROW [MONDO:Lexical, OMIM:601544] -synonym: "deafness, autosomal dominant 3a" NARROW [OMIM:601544, OMIM:genemap2] +synonym: "autosomal dominant nonsyndromic deafness type 3A" NARROW [MONDORULE:4] +synonym: "deafness, autosomal dominant 3A" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant 3a" NARROW [] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 3" NARROW [GARD:0009933] -synonym: "deafness, autosomal dominant type 3A" NARROW [MONDORULE:4, OMIM:601544] +synonym: "deafness, autosomal dominant type 3A" NARROW [MONDORULE:4] synonym: "DFNA3" NARROW ABBREVIATION [GARD:0009933] -synonym: "DFNA3A" NARROW ABBREVIATION [DOID:0110564, MONDO:Lexical, OMIM:601544] +synonym: "DFNA3A" NARROW ABBREVIATION [MONDO:Lexical] synonym: "GJB2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neurosensory nonsyndromic dominant deafness 1" NARROW [GARD:0009933] synonym: "NSRD1" NARROW ABBREVIATION [GARD:0009933] @@ -249846,9 +249887,9 @@ subset: gard_rare {source="GARD:15335", source="MONDO:GARD"} subset: rare synonym: "cataract (disease) caused by mutation in CRYBB2" EXACT [] synonym: "cataract 3 multiple types with or without microcornea" EXACT [DOID:0110269] -synonym: "cataract 3, multiple types" RELATED [MONDO:Lexical, OMIM:601547] -synonym: "cataract 3, multiple types, with or without microcornea" RELATED [OMIM:601547] -synonym: "cataract, congenital, cerulean type, 2" RELATED [OMIM:601547] +synonym: "cataract 3, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract 3, multiple types, with or without microcornea" RELATED [] +synonym: "cataract, congenital, cerulean type, 2" RELATED [] synonym: "CCA2" NARROW ABBREVIATION [DOID:0110269] synonym: "congenital cerulean type cataract 2" NARROW [DOID:0110269] synonym: "CRYBB2 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] @@ -249902,11 +249943,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:412022"} subset: orphanet_rare {source="Orphanet:412022"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism" RELATED [OMIM:601552] -synonym: "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" RELATED [MONDO:Lexical, OMIM:601552] +synonym: "ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism" RELATED [] +synonym: "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" RELATED [MONDO:Lexical] synonym: "facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome" EXACT [Orphanet:412022] -synonym: "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome" EXACT CLINGEN_LABEL [] -synonym: "FDLAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601552] +synonym: "facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome" EXACT CLINGEN_LABEL [Orphanet:412022] +synonym: "FDLAB" RELATED ABBREVIATION [MONDO:Lexical] synonym: "FDLAB syndrome" EXACT [Orphanet:412022] synonym: "Traboulsi syndrome" EXACT [OMIM:601552, Orphanet:412022] xref: GARD:17688 {source="MONDO:GARD"} @@ -249931,12 +249972,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:1573"} subset: orphanet_rare {source="Orphanet:1573"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HJMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601553, Orphanet:1573] -synonym: "Hjmd" EXACT [DOID:0110711] +synonym: "HJMD" EXACT ABBREVIATION [DOID:0110711, MONDO:Lexical, OMIM:601553, Orphanet:1573] +synonym: "Hjmd" EXACT [] synonym: "hypotrichosis with cone-rod dystrophy" EXACT [DOID:0110711, OMIM:601553] -synonym: "hypotrichosis with juvenile macular degeneration" RELATED [Orphanet:1573] +synonym: "hypotrichosis with juvenile macular degeneration" RELATED [] synonym: "hypotrichosis with juvenile macular dystrophy" EXACT [Orphanet:1573] -synonym: "hypotrichosis, congenital, with juvenile macular dystrophy" RELATED [MONDO:Lexical, OMIM:601553] +synonym: "hypotrichosis, congenital, with juvenile macular dystrophy" RELATED [MONDO:Lexical] synonym: "juvenile macular degeneration and hypotrichosis" RELATED [GARD:0003066] synonym: "juvenile macular dystrophy and congenital hypotrichosis" RELATED [GARD:0003066] xref: DOID:0110711 {source="MONDO:equivalentTo"} @@ -249973,9 +250014,9 @@ subset: ordo_disorder {source="Orphanet:166016"} subset: orphanet_rare {source="Orphanet:166016"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epiphyseal dysplasia, multiple, with Robin phenotype" RELATED [OMIM:601560] -synonym: "multiple epiphyseal dysplasia with ROBIN phenotype" RELATED [OMIM:601560] -synonym: "multiple epiphyseal dysplasia with Robin phenotype" EXACT [Orphanet:166016] +synonym: "epiphyseal dysplasia, multiple, with Robin phenotype" RELATED [] +synonym: "multiple epiphyseal dysplasia with ROBIN phenotype" RELATED [] +synonym: "multiple epiphyseal dysplasia with Robin phenotype" EXACT [OMIM:601560, Orphanet:166016] xref: GARD:17013 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:166016", source="Orphanet:166016/attributed", source="Orphanet:166016/ntbt"} xref: MEDGEN:321890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -249992,7 +250033,7 @@ name: dyssegmental dysplasia-glaucoma syndrome def: "This syndrome is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children." [Orphanet:1804] subset: ordo_malformation_syndrome {source="Orphanet:1804"} synonym: "dyssegmental dysplasia and glaucoma" RELATED [GARD:0002025] -synonym: "dyssegmental dysplasia with glaucoma" RELATED [OMIM:601561] +synonym: "dyssegmental dysplasia with glaucoma" RELATED [] xref: MEDGEN:330382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563290 {source="MONDO:equivalentTo"} xref: OMIM:601561 {source="Orphanet:1804/e", source="MONDO:equivalentTo", source="Orphanet:1804"} @@ -250007,8 +250048,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2025/dyssegm id: MONDO:0011111 name: obsolete horns in sheep comment: Reason: out of scope. Term to consider: none -synonym: "Ho" RELATED [OMIM:601563] -synonym: "horns in sheep" EXACT [OMIM:601563] +synonym: "Ho" RELATED [] +synonym: "horns in sheep" EXACT [] xref: OMIM:601563 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4424" xsd:anyURI @@ -250025,13 +250066,13 @@ synonym: "bilateral radial aplasia with Wilms tumor" RELATED [GARD:0005578] synonym: "bilateral radial aplasia with Wilms tumour" RELATED OMO:0003005 [] synonym: "Wilms tumor 5" EXACT [MONDO:Lexical, OMIM:601583] synonym: "Wilms tumor and radial bilateral aplasia" RELATED [GARD:0005578] -synonym: "Wilms tumor susceptibility-5, autosomal dominant, somatic mutation" EXACT [OMIM:601583, OMIM:genemap2] -synonym: "Wilms tumor type 5" EXACT [MONDORULE:1, OMIM:601583] -synonym: "Wilms tumor, susceptibility to" RELATED [OMIM:601583] +synonym: "Wilms tumor susceptibility-5, autosomal dominant, somatic mutation" EXACT [] +synonym: "Wilms tumor type 5" EXACT [MONDORULE:1] +synonym: "Wilms tumor, susceptibility to" RELATED [] synonym: "Wilms tumour and radial bilateral aplasia" RELATED OMO:0003005 [] synonym: "Wilms tumour susceptibility-5, autosomal dominant, somatic mutation" EXACT OMO:0003005 [] synonym: "Wilms tumour type 5" EXACT OMO:0003005 [] -synonym: "WT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601583] +synonym: "WT5" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15336 {source="MONDO:GARD"} xref: MEDGEN:316905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536707 {source="MONDO:equivalentTo"} @@ -250058,13 +250099,13 @@ subset: rare synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C" EXACT [DOID:0110183] synonym: "Charcot Marie Tooth disease type 4C" RELATED [GARD:0009201] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease type 4C" EXACT CLINGEN_LABEL [] -synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C" RELATED [OMIM:601596] -synonym: "Charcot-Marie-Tooth disease, type 4C" RELATED [MONDO:Lexical, OMIM:601596] +synonym: "Charcot-Marie-Tooth disease type 4C" EXACT CLINGEN_LABEL [DOID:0110183, icd11.foundation:382219984, NCIT:C129864, Orphanet:99949] +synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 4C" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy type 4C" EXACT [DOID:0110183] -synonym: "Charcot-Marie-Tooth neuropathy, type 4C" RELATED [OMIM:601596] +synonym: "Charcot-Marie-Tooth neuropathy, type 4C" RELATED [] synonym: "CMT 4C" RELATED [GARD:0009201] -synonym: "CMT4C" EXACT ABBREVIATION [DOID:0110183, MONDO:Lexical, OMIM:601596, Orphanet:99949] +synonym: "CMT4C" EXACT ABBREVIATION [DOID:0110183, MONDO:Lexical, NCIT:C129864, OMIM:601596, Orphanet:99949] synonym: "SH3TC2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110183 {source="MONDO:equivalentTo"} xref: GARD:9201 {source="MONDO:GARD"} @@ -250092,10 +250133,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:867"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Brooke-Fordyce Trichoepitheliomas" RELATED [OMIM:601606] +synonym: "Brooke-Fordyce Trichoepitheliomas" RELATED [] synonym: "epithelioma adenoides cysticum" RELATED [GARD:0010867] -synonym: "epithelioma Adenoides Cysticum of Brooke" RELATED [OMIM:601606] -synonym: "epithelioma, hereditary multiple benign cystic" RELATED [OMIM:601606] +synonym: "epithelioma Adenoides Cysticum of Brooke" RELATED [] +synonym: "epithelioma, hereditary multiple benign cystic" RELATED [] synonym: "hereditary multiple benign cystic epithelioma" RELATED [GARD:0010867] synonym: "multiple familial trichoepithelioma" RELATED [GARD:0010867] synonym: "trichoepithelioma multiple familial" RELATED [GARD:0010867] @@ -250132,11 +250173,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:1120"} subset: orphanet_rare {source="Orphanet:1120"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LACHT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601612] +synonym: "LACHT" RELATED ABBREVIATION [MONDO:Lexical] synonym: "lung agenesis heart defect thumb anomalies" RELATED [GARD:0003378, MESH:C535708] -synonym: "lung agenesis, congenital heart defects, and thumb anomalies syndrome" RELATED [MONDO:Lexical, OMIM:601612] +synonym: "lung agenesis, congenital heart defects, and thumb anomalies syndrome" RELATED [MONDO:Lexical] synonym: "Manouvrier syndrome" RELATED [GARD:0003378] -synonym: "Mardini-Nyhan association" RELATED [OMIM:601612] +synonym: "Mardini-Nyhan association" RELATED [] synonym: "Mardini-Nyhan syndrome" EXACT [Orphanet:1120] synonym: "pulmonary aplasia and triphalangia of the thumb" RELATED [GARD:0003378, MESH:C535708] xref: GARD:3378 {source="MONDO:GARD"} @@ -250158,9 +250199,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3378/manouvr [Term] id: MONDO:0011117 name: iris pigment epithelium anomalies -synonym: "cysts of iris pigment epithelium" RELATED [OMIM:601616] +synonym: "cysts of iris pigment epithelium" RELATED [] synonym: "iris pigment epithelium anomalies" EXACT [OMIM:601616] -synonym: "ruffles and cysts of iris pigment epithelium" RELATED [OMIM:601616] +synonym: "ruffles and cysts of iris pigment epithelium" RELATED [] xref: MEDGEN:357091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566651 {source="MONDO:equivalentTo"} xref: OMIM:601616 {source="MONDO:equivalentTo"} @@ -250176,7 +250217,7 @@ subset: rare synonym: "acute bilineal leukaemia" EXACT OMO:0003005 [] synonym: "acute bilineal leukemia" EXACT [NCIT:C6923] synonym: "bilineal acute leukaemia" RELATED OMO:0003005 [] -synonym: "bilineal acute leukemia" RELATED [Orphanet:98836] +synonym: "bilineal acute leukemia" RELATED [] xref: ICD10CM:C95.0 {source="Orphanet:98836", source="Orphanet:98836/ntbt"} xref: MEDGEN:87614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6923 {source="MONDO:equivalentTo"} @@ -250210,11 +250251,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "neural tube defects, folate-sensitive" EXACT [MONDO:Lexical, OMIM:601634] -synonym: "neural tube defects, folate-sensitive, susceptibility to" RELATED [OMIM:601634, OMIM:genemap2] -synonym: "neural tube defects, susceptibility to" RELATED [OMIM:601634, OMIM:genemap2] -synonym: "NTD, folate-sensitive" RELATED [OMIM:601634] -synonym: "NTDFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601634] -synonym: "spina bifida, folate-sensitive" RELATED [OMIM:601634] +synonym: "neural tube defects, folate-sensitive, susceptibility to" RELATED [] +synonym: "neural tube defects, susceptibility to" RELATED [] +synonym: "NTD, folate-sensitive" RELATED [] +synonym: "NTDFS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spina bifida, folate-sensitive" RELATED [] xref: MEDGEN:355746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536409 {source="MONDO:equivalentTo"} xref: OMIM:601634 {source="MONDO:equivalentTo"} @@ -250231,11 +250272,11 @@ def: "Any paraganglioma in which the cause of the disease is a mutation in the S subset: gard_rare {source="GARD:10544", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "glomus tumors, familial, 2" RELATED [OMIM:601650] +synonym: "glomus tumors, familial, 2" RELATED [] synonym: "paraganglioma caused by mutation in SDHAF2" EXACT [MONDO:design_pattern] synonym: "paragangliomas 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:601650] -synonym: "paragangliomas type 2" EXACT [MONDORULE:1, OMIM:601650] -synonym: "PGL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601650] +synonym: "paragangliomas type 2" EXACT [MONDORULE:1] +synonym: "PGL2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SDHAF2 paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)" RELATED [GARD:0010544] xref: GARD:10544 {source="MONDO:GARD"} @@ -250258,8 +250299,8 @@ name: obesity disorder def: "A disorder involving an excessive amount of body fat." [https://www.ama-assn.org/sites/default/files/media-browser/public/about-ama/councils/Council%20Reports/council-on-science-public-health/a13csaph3.pdf, https://www.mayoclinic.org/diseases-conditions/obesity/symptoms-causes/syc-20375742] comment: Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes subset: otar {source="MONDO:OTAR"} -synonym: "leanness" RELATED EXCLUDE [OMIM:601665] -synonym: "obesity" EXACT [MONDO:ambiguous, OMIM:601665] +synonym: "leanness" RELATED EXCLUDE [] +synonym: "obesity" EXACT [DOID:9970, MONDO:ambiguous, NCIT:C3283] synonym: "obesity disease" EXACT [] xref: DOID:9970 {source="MONDO:equivalentTo", source="EFO:0001073"} xref: EFO:0001073 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -250287,8 +250328,8 @@ intersection_of: disease_has_feature HP:0001513 ! Obesity id: MONDO:0011123 name: type 1 diabetes mellitus 15 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21." [DOID:0110753, MONDO:patterns/inherited_susceptibility, PMID:8981961] -synonym: "diabetes mellitus, insulin-dependent, 15" RELATED [MONDO:Lexical, OMIM:601666] -synonym: "IDDM15" EXACT ABBREVIATION [DOID:0110753, MONDO:Lexical, OMIM:601666] +synonym: "diabetes mellitus, insulin-dependent, 15" RELATED [MONDO:Lexical] +synonym: "IDDM15" EXACT ABBREVIATION [DOID:0110753, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 15" EXACT [DOID:0110753, OMIM:601666] xref: DOID:0110753 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110753"} @@ -250311,8 +250352,8 @@ subset: ordo_disorder {source="Orphanet:168451"} subset: orphanet_rare {source="Orphanet:168451"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SEMDAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601668] -synonym: "spondyloepimetaphyseal dysplasia with abnormal dentition" RELATED [MONDO:Lexical, OMIM:601668] +synonym: "SEMDAD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spondyloepimetaphyseal dysplasia with abnormal dentition" RELATED [MONDO:Lexical] xref: GARD:17030 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:168451/attributed", source="Orphanet:168451/ntbt", source="Orphanet:168451"} xref: MEDGEN:356550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -250330,13 +250371,13 @@ name: trichothiodystrophy 1, photosensitive subset: gard_rare {source="GARD:5270", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation" RELATED [OMIM:601675] +synonym: "ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation" RELATED [] synonym: "PIBIDS syndrome" EXACT [OMIM:601675] -synonym: "Tay syndrome" RELATED [OMIM:601675] -synonym: "trichothiodystrophy 1, photosensitive" EXACT [MONDO:Lexical, OMIM:601675] -synonym: "trichothiodystrophy with congenital ichthyosis" RELATED [OMIM:601675] -synonym: "trichothiodystrophy, photosensitive" RELATED [OMIM:601675] -synonym: "TTD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601675] +synonym: "Tay syndrome" RELATED [] +synonym: "trichothiodystrophy 1, photosensitive" EXACT [MONDO:Lexical, NCIT:C156433, OMIM:601675] +synonym: "trichothiodystrophy with congenital ichthyosis" RELATED [] +synonym: "trichothiodystrophy, photosensitive" RELATED [] +synonym: "TTD1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111873 {source="MONDO:equivalentTo"} xref: GARD:5270 {source="MONDO:GARD"} xref: MEDGEN:355730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -250383,15 +250424,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arthrogryposis multiplex congenita distal type 2B" RELATED [GARD:0009909] synonym: "arthrogryposis multiplex congenita distal type II with craniofacial abnormalities" RELATED [GARD:0009909] -synonym: "arthrogryposis multiplex congenita, distal, type 2B" RELATED [OMIM:601680] -synonym: "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities" RELATED [OMIM:601680] -synonym: "arthrogryposis, distal, type 2B" EXACT [MONDO:Lexical, OMIM:601680] -synonym: "DA2B" EXACT ABBREVIATION [DOID:0111599, MONDO:Lexical, OMIM:601680] -synonym: "distal arthrogryposis type 2B" EXACT [Orphanet:1147] +synonym: "arthrogryposis multiplex congenita, distal, type 2B" RELATED [] +synonym: "arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities" RELATED [] +synonym: "arthrogryposis, distal, type 2B" EXACT [MONDO:Lexical] +synonym: "DA2B" EXACT ABBREVIATION [DOID:0111599, MONDO:Lexical] +synonym: "distal arthrogryposis type 2B" EXACT [DOID:0111599, icd11.foundation:1206883656, Orphanet:1147] synonym: "Freeman Sheldon syndrome, variant" RELATED [GARD:0009909] synonym: "Freeman Sheldon variant" RELATED [GARD:0009909] synonym: "Freeman-Sheldon syndrome variant" EXACT [DOID:0111599, Orphanet:1147] -synonym: "Sheldon-Hall syndrome" EXACT [DOID:0111599, OMIM:601680] +synonym: "Sheldon-Hall syndrome" EXACT [DOID:0111599, icd11.foundation:1206883656, Orphanet:1147] xref: DOID:0111599 {source="MONDO:equivalentTo"} xref: GARD:16556 {source="MONDO:GARD"} xref: ICD10CM:Q68.8 {source="Orphanet:1147/attributed", source="Orphanet:1147/ntbt", source="Orphanet:1147"} @@ -250408,9 +250449,9 @@ id: MONDO:0011129 name: glaucoma type 1C subset: gard_rare {source="GARD:2484", source="MONDO:GARD"} subset: rare -synonym: "glaucoma 1, primary open angle, C" RELATED [MONDO:Lexical, OMIM:601682] -synonym: "glaucoma 1C, primary open angle" EXACT [OMIM:601682, OMIM:genemap2] -synonym: "GLC1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601682] +synonym: "glaucoma 1, primary open angle, C" RELATED [MONDO:Lexical] +synonym: "glaucoma 1C, primary open angle" EXACT [] +synonym: "GLC1C" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:2484 {source="MONDO:GARD"} xref: MEDGEN:356544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601682 {source="MONDO:equivalentTo"} @@ -250440,13 +250481,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:3354"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alves syndrome" RELATED [OMIM:601701] -synonym: "Alves-dos Santos-Castelo syndrome" EXACT [Orphanet:3354] -synonym: "arthrogryposis and ectodermal dysplasia" RELATED [OMIM:601701] +synonym: "Alves syndrome" RELATED [] +synonym: "Alves-dos Santos-Castelo syndrome" EXACT [] +synonym: "arthrogryposis and ectodermal dysplasia" RELATED [] synonym: "ectodermal dysplasia - cataracts - kyphoscoliosis" RELATED [GARD:0001553] -synonym: "ectodermal dysplasia-cataracts-kyphoscoliosis syndrome" EXACT [Orphanet:3354] -synonym: "Todv syndrome" RELATED [OMIM:601701] -synonym: "Trichooculodermovertebral syndrome" RELATED [OMIM:601701] +synonym: "ectodermal dysplasia-cataracts-kyphoscoliosis syndrome" EXACT [] +synonym: "Todv syndrome" RELATED [] +synonym: "Trichooculodermovertebral syndrome" RELATED [] xref: icd11.foundation:1206025469 {source="MONDO:equivalentTo"} xref: MEDGEN:355714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537441 {source="MONDO:equivalentTo"} @@ -250466,13 +250507,13 @@ subset: orphanet_rare {source="Orphanet:169095"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alopecia immunodeficiency" EXACT [] -synonym: "alymphoid cystic thymic dysgenesis" EXACT [DOID:0060769] +synonym: "alymphoid cystic thymic dysgenesis" EXACT [DOID:0060769, Orphanet:169095] synonym: "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency" RELATED [GARD:0004358] -synonym: "FOXN1 deficiency" EXACT [Orphanet:169095] +synonym: "FOXN1 deficiency" EXACT [] synonym: "Pignata Guarino syndrome" RELATED [GARD:0004358] synonym: "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" EXACT [DOID:0060769, Orphanet:169095] synonym: "T-cell immunodeficiency, congenital alopecia and nail dystrophy" RELATED [GARD:0004358] -synonym: "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" EXACT [OMIM:601705] +synonym: "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" EXACT [DOID:0060769, OMIM:601705] synonym: "winged helix deficiency" EXACT [DOID:0060769, Orphanet:169095] xref: DOID:0060769 {source="MONDO:equivalentTo"} xref: GARD:4358 {source="MONDO:GARD"} @@ -250527,12 +250568,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "corpus callosum agenesis polysyndactyly" RELATED [GARD:0005584] synonym: "corpus callosum agenesis-polysyndactyly syndrome" EXACT [Orphanet:1553] -synonym: "craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development" RELATED [OMIM:601707] -synonym: "CRJS" RELATED ABBREVIATION [OMIM:601707] +synonym: "craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development" RELATED [] +synonym: "CRJS" RELATED ABBREVIATION [] synonym: "curry Jones syndrome" RELATED [GARD:0005584] -synonym: "curry-JONES syndrome" RELATED [OMIM:601707] -synonym: "curry-Jones syndrome" EXACT [OMIM:601707] -synonym: "Curry-Jones syndrome, somatic mosaic" EXACT [OMIM:601707, OMIM:genemap2] +synonym: "curry-JONES syndrome" RELATED [] +synonym: "curry-Jones syndrome" EXACT [OMIM:601707, Orphanet:1553] +synonym: "Curry-Jones syndrome, somatic mosaic" EXACT [] xref: GARD:5584 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:1553/attributed", source="Orphanet:1553/ntbt", source="Orphanet:1553"} xref: MEDGEN:167083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -250572,12 +250613,12 @@ subset: orphanet_rare {source="Orphanet:220436"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDPLT5" EXACT ABBREVIATION [DOID:0111050] -synonym: "bleeding disorder, platelet-type, 5" RELATED [OMIM:601709] -synonym: "factor 5 Quebec" RELATED [OMIM:601709] -synonym: "factor V Quebec" EXACT [DOID:0111050, Orphanet:220436] +synonym: "bleeding disorder, platelet-type, 5" RELATED [] +synonym: "factor 5 Quebec" RELATED [] +synonym: "factor V Quebec" EXACT [DOID:0111050, icd11.foundation:1618741944, Orphanet:220436] synonym: "platelet-type bleeding disorder 5" EXACT [DOID:0111050] -synonym: "QPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601709] -synonym: "Quebec platelet disorder" EXACT [MONDO:Lexical, OMIM:601709] +synonym: "QPD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Quebec platelet disorder" EXACT [DOID:0111050, icd11.foundation:1618741944, MONDO:Lexical, OMIM:601709, Orphanet:220436] xref: DOID:0111050 {source="MONDO:equivalentTo"} xref: GARD:8345 {source="MONDO:GARD"} xref: ICD10CM:D69.1 {source="DOID:0111050", source="Orphanet:220436", source="Orphanet:220436/attributed", source="Orphanet:220436/ntbt"} @@ -250601,9 +250642,9 @@ subset: gard_rare {source="GARD:10398", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ABCA4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 19" EXACT [MONDO:Lexical, OMIM:601718] +synonym: "retinitis pigmentosa 19" EXACT [DOID:0110354, MONDO:Lexical, OMIM:601718] synonym: "retinitis pigmentosa caused by mutation in ABCA4" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 19" EXACT [DOID:0110354, MONDORULE:2, OMIM:601718] +synonym: "retinitis pigmentosa type 19" EXACT [MONDORULE:2] synonym: "RP 19" RELATED [GARD:0010398] synonym: "RP19" EXACT ABBREVIATION [DOID:0110354, MONDO:Lexical, OMIM:601718] xref: DOID:0110354 {source="MONDO:equivalentTo"} @@ -250628,12 +250669,12 @@ name: systemic lupus erythematosus, susceptibility to, 1 def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "SLEB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601744] -synonym: "susceptibility to systemic lupus erythematosus 1" EXACT [OMIM:601744] +synonym: "susceptibility to systemic lupus erythematosus 1" EXACT [] synonym: "systemic lupus erythematosus (disease) caused by mutation in TLR5" EXACT [] -synonym: "systemic lupus erythematosus, resistance to" EXACT [OMIM:601744, OMIM:genemap2] -synonym: "systemic lupus erythematosus, resistance to, 1" EXACT [OMIM:601744] +synonym: "systemic lupus erythematosus, resistance to" EXACT [] +synonym: "systemic lupus erythematosus, resistance to, 1" EXACT [] synonym: "systemic lupus erythematosus, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:601744] -synonym: "systemic lupus erythematosus, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:601744] +synonym: "systemic lupus erythematosus, susceptibility to, type 1" EXACT [MONDORULE:1] synonym: "TLR5 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: MEDGEN:355700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601744 {source="MONDO:equivalentTo"} @@ -250671,7 +250712,7 @@ id: MONDO:0011141 name: megaloblastic anemia, folate-responsive subset: inferred_rare subset: rare -synonym: "folate level in erythrocytes" EXACT [OMIM:601775] +synonym: "folate level in erythrocytes" EXACT [] synonym: "MEGAF" EXACT ABBREVIATION [OMIM:601775] xref: MEDGEN:440842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601775 {source="MONDO:equivalentTo"} @@ -250691,33 +250732,33 @@ subset: orphanet_rare {source="Orphanet:2953"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adducted thumb clubfoot syndrome" RELATED [GARD:0008486] -synonym: "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome" RELATED [MESH:C000600608, OMIM:601776] +synonym: "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome" RELATED [MESH:C000600608] synonym: "adducted thumb-club foot syndrome" RELATED [GARD:0000545] -synonym: "adducted thumb-clubfoot syndrome" EXACT [MESH:C000600608, OMIM:601776, Orphanet:2953] +synonym: "adducted thumb-clubfoot syndrome" EXACT [MESH:C000600608, Orphanet:2953] synonym: "adducted thumbs Dundar type" RELATED [MESH:C000600608] -synonym: "adducted thumbs-arthrogryposis syndrome, Dundar type" EXACT [Orphanet:2953] -synonym: "arthrogryposis, distal, with peculiar facies and hydronephrosis" RELATED [MESH:C000600608, OMIM:601776] -synonym: "ATCS" EXACT ABBREVIATION [MESH:C000600608, Orphanet:2953] +synonym: "adducted thumbs-arthrogryposis syndrome, Dundar type" EXACT [] +synonym: "arthrogryposis, distal, with peculiar facies and hydronephrosis" RELATED [MESH:C000600608] +synonym: "ATCS" EXACT ABBREVIATION [MESH:C000600608] synonym: "autosomal recessive adducted thumb-club foot syndrome" RELATED [GARD:0008486] -synonym: "CHST14-related EDS" EXACT [Orphanet:2953] -synonym: "CHST14-related Ehlers-Danlos syndrome" EXACT [Orphanet:2953] -synonym: "D4ST1-deficient EDS" EXACT [Orphanet:2953] -synonym: "D4ST1-deficient Ehlers-Danlos syndrome" EXACT [Orphanet:2953] -synonym: "Dundar syndrome" RELATED [MESH:C000600608, OMIM:601776] -synonym: "EDS, arthrogryposic type" EXACT [Orphanet:2953] -synonym: "EDS, Kosho type" EXACT [Orphanet:2953] -synonym: "EDS, musculocontractural type" EXACT [Orphanet:2953] +synonym: "CHST14-related EDS" EXACT [] +synonym: "CHST14-related Ehlers-Danlos syndrome" EXACT [] +synonym: "D4ST1-deficient EDS" EXACT [] +synonym: "D4ST1-deficient Ehlers-Danlos syndrome" EXACT [] +synonym: "Dundar syndrome" RELATED [MESH:C000600608] +synonym: "EDS, arthrogryposic type" EXACT [] +synonym: "EDS, Kosho type" EXACT [] +synonym: "EDS, musculocontractural type" EXACT [] synonym: "EDS6B, formerly" RELATED [MESH:C000600608] synonym: "EDSMC" RELATED ABBREVIATION [MESH:C000600608] -synonym: "EDSmc" RELATED [OMIM:601776] -synonym: "EDSMC1" RELATED ABBREVIATION [MESH:C000600608, MONDO:Lexical, OMIM:601776] -synonym: "Ehlers-Danlos syndrome, arthrogryposic type" EXACT [Orphanet:2953] +synonym: "EDSmc" RELATED [] +synonym: "EDSMC1" RELATED ABBREVIATION [MESH:C000600608, MONDO:Lexical] +synonym: "Ehlers-Danlos syndrome, arthrogryposic type" EXACT [] synonym: "Ehlers-Danlos syndrome, Kosho type" EXACT [Orphanet:2953] -synonym: "Ehlers-Danlos syndrome, musculocontractural type 1" RELATED [MONDO:Lexical, OMIM:601776] -synonym: "Ehlers-Danlos syndrome, musculocontractural type, 1" RELATED [MESH:C000600608, OMIM:601776] -synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [OMIM:601776] +synonym: "Ehlers-Danlos syndrome, musculocontractural type 1" RELATED [MONDO:Lexical] +synonym: "Ehlers-Danlos syndrome, musculocontractural type, 1" RELATED [MESH:C000600608] +synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [] synonym: "Ehlers-Danlos syndrome, type VIB, formerly" RELATED [MESH:C000600608] -synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:601776] +synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [] synonym: "MCEDS" EXACT ABBREVIATION [Orphanet:2953] synonym: "musculocontractural EDS" RELATED [GARD:0008486] synonym: "musculocontractural Ehlers-Danlos syndrome" EXACT [Orphanet:2953] @@ -250749,12 +250790,12 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:10656", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 6" EXACT [MONDO:Lexical, OMIM:601777] +synonym: "cone-rod dystrophy 6" EXACT [DOID:0111011, MONDO:Lexical, OMIM:601777] synonym: "cone-rod dystrophy caused by mutation in GUCY2D" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 6" EXACT [DOID:0111011, MONDORULE:1, OMIM:601777] +synonym: "cone-rod dystrophy type 6" EXACT [MONDORULE:1] synonym: "CORD6" EXACT ABBREVIATION [DOID:0111011, MONDO:Lexical, OMIM:601777] synonym: "GUCY2D cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "RCD2" EXACT ABBREVIATION [DOID:0111011, OMIM:601251, OMIM:601777] +synonym: "RCD2" EXACT ABBREVIATION [DOID:0111011] synonym: "retinal cone dystrophy 2" EXACT [DOID:0111011, OMIM:601777] xref: DOID:0111011 {source="MONDO:equivalentTo"} xref: GARD:10656 {source="MONDO:GARD"} @@ -250780,22 +250821,22 @@ subset: ordo_etiological_subtype {source="Orphanet:228363"} subset: orphanet_rare {source="Orphanet:228363"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ceroid lipofuscinosis, neuronal, 6" RELATED [MONDO:Lexical, OMIM:601780] -synonym: "ceroid lipofuscinosis, neuronal, 6, variable age at onset" RELATED [OMIM:601780] -synonym: "ceroid lipofuscinosis, neuronal, type 6" EXACT [MONDORULE:1, OMIM:601780] -synonym: "CLN6" EXACT ABBREVIATION [DOID:0110729, MONDO:Lexical, OMIM:601780] -synonym: "CLN6 disease" RELATED [Orphanet:228363] +synonym: "ceroid lipofuscinosis, neuronal, 6" RELATED [MONDO:Lexical] +synonym: "ceroid lipofuscinosis, neuronal, 6, variable age at onset" RELATED [] +synonym: "ceroid lipofuscinosis, neuronal, type 6" EXACT [MONDORULE:1] +synonym: "CLN6" EXACT ABBREVIATION [DOID:0110729, MONDO:Lexical] +synonym: "CLN6 disease" RELATED [] synonym: "CLN6 disease, adult Kufs type A (subtype)" RELATED [GARD:0001224] synonym: "CLN6 disease, late infantile (subtype)" RELATED [GARD:0001224] synonym: "CLN6 late infantile neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "CLN6A" EXACT [OMIM:601780] +synonym: "CLN6A" EXACT ABBREVIATION [OMIM:601780] synonym: "late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis 6" EXACT [DOID:0110729] synonym: "neuronal ceroid lipofuscinosis 6 variable age of onset" EXACT [DOID:0110729] -synonym: "neuronal ceroid lipofuscinosis type 6" EXACT [DOID:0110729, MONDORULE:1] +synonym: "neuronal ceroid lipofuscinosis type 6" EXACT [MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant" RELATED [GARD:0001224] synonym: "neuronal ceroid lipofuscinosis, late infantile, variant" EXACT [OMIM:601780] -synonym: "vLINCL" EXACT ABBREVIATION [OMIM:601780] +synonym: "vLINCL" EXACT ABBREVIATION [Orphanet:228363] xref: DOID:0110729 {source="MONDO:equivalentTo"} xref: GARD:1224 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="DOID:0110729", source="Orphanet:228363/attributed", source="Orphanet:228363/ntbt", source="Orphanet:228363"} @@ -250823,8 +250864,8 @@ subset: ordo_disorder {source="Orphanet:363741"} subset: orphanet_rare {source="Orphanet:363741"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "coloboma-obesity-hypogenitalism-intellectual disability syndrome" RELATED [OMIM:601794] -synonym: "coloboma-obesity-hypogenitalism-mental retardation syndrome" RELATED DEPRECATED [OMIM:601794] +synonym: "coloboma-obesity-hypogenitalism-intellectual disability syndrome" RELATED [] +synonym: "coloboma-obesity-hypogenitalism-mental retardation syndrome" RELATED DEPRECATED [] xref: GARD:17575 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:363741", source="Orphanet:363741/attributed", source="Orphanet:363741/ntbt"} xref: MEDGEN:400954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -250847,22 +250888,22 @@ subset: orphanet_rare {source="Orphanet:884"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chromosome 12, Isochromosome 12p syndrome" RELATED [GARD:0008421] -synonym: "Hexasomy 12P, Mosaic" RELATED [OMIM:601803] +synonym: "Hexasomy 12P, Mosaic" RELATED [] synonym: "Isochromosome 12p mosaicism" EXACT [Orphanet:884] -synonym: "Isochromosome 12P syndrome" RELATED [OMIM:601803] -synonym: "Isochromosome 12p syndrome" EXACT [Orphanet:884] +synonym: "Isochromosome 12P syndrome" RELATED [] +synonym: "Isochromosome 12p syndrome" EXACT [OMIM:601803, Orphanet:884] synonym: "Killian syndrome" RELATED [GARD:0008421] synonym: "Killian Teschler-Nicola syndrome" RELATED [GARD:0008421] synonym: "Pallister Killian Mosaic Syndrome" EXACT [NORD:1546] synonym: "Pallister Killian syndrome" RELATED [GARD:0008421] synonym: "Pallister mosaic syndrome" RELATED [GARD:0008421] synonym: "Pallister-Killian mosaic syndrome" RELATED [GARD:0008421] -synonym: "Pallister-Killian syndrome" EXACT [MONDO:Lexical, OMIM:601803, Orphanet:884] -synonym: "Pallister-Killian syndrome, Somatic mosaicism" EXACT [OMIM:601803, OMIM:genemap2] -synonym: "PKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601803] +synonym: "Pallister-Killian syndrome" EXACT [MONDO:Lexical, NCIT:C75458, OMIM:601803, Orphanet:884] +synonym: "Pallister-Killian syndrome, Somatic mosaicism" EXACT [] +synonym: "PKS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Teschler-Nicola Killian syndrome" RELATED [GARD:0008421] -synonym: "tetrasomy 12P, Mosaic" RELATED [OMIM:601803] -synonym: "tetrasomy type 12p" EXACT [MONDORULE:4, Orphanet:884] +synonym: "tetrasomy 12P, Mosaic" RELATED [] +synonym: "tetrasomy type 12p" EXACT [MONDORULE:4] xref: GARD:8421 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:884", source="Orphanet:884/attributed", source="Orphanet:884/ntbt"} xref: ICD9:758.81 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -250895,22 +250936,22 @@ subset: ordo_malformation_syndrome {source="Orphanet:1600"} subset: orphanet_rare {source="Orphanet:1600"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "18q deletion syndrome" EXACT [NCIT:C84522] +synonym: "18q deletion syndrome" EXACT [NCIT:C84522, Orphanet:1600] synonym: "18Q syndrome" EXACT [NCIT:C84522] -synonym: "18Q- syndrome" RELATED [OMIM:601808] -synonym: "18q-syndrome" EXACT [DOID:0060407, NCIT:C84522, Orphanet:1600] +synonym: "18Q- syndrome" RELATED [] +synonym: "18q-syndrome" EXACT [NCIT:C84522] synonym: "chromosome 18q deletion" RELATED [GARD:0013000] -synonym: "chromosome 18q deletion syndrome" EXACT [OMIM:601808] -synonym: "Chromosome 18q- Syndrome" EXACT [NORD:946] -synonym: "chromosome 18Q- syndrome" RELATED [OMIM:601808] +synonym: "chromosome 18q deletion syndrome" EXACT [DOID:0060407, NCIT:C84522, OMIM:601808] +synonym: "Chromosome 18q- Syndrome" EXACT [NORD:946, OMIM:601808] +synonym: "chromosome 18Q- syndrome" RELATED [] synonym: "deletion 18q" EXACT [DOID:0060407, Orphanet:1600] synonym: "deletion 18q syndrome" EXACT [NCIT:C84522] -synonym: "monosomy 18q" EXACT [DOID:0060407] +synonym: "monosomy 18q" EXACT [DOID:0060407, Orphanet:1600] synonym: "monosomy 18q syndrome" RELATED [GARD:0010866] -synonym: "monosomy type 18q" EXACT [MONDORULE:4, Orphanet:1600] +synonym: "monosomy type 18q" EXACT [MONDORULE:4] synonym: "partial deletion of chromosome 18q" EXACT [Orphanet:262146] -synonym: "partial deletion of the long arm of chromosome 18" EXACT [MONDO:0016916] -synonym: "partial deletion of the long arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262146] +synonym: "partial deletion of the long arm of chromosome 18" EXACT [MONDO:0016916, Orphanet:262146] +synonym: "partial deletion of the long arm of chromosome type 18" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 18q" EXACT [Orphanet:262146] synonym: "partial monosomy of the long arm of chromosome 18" EXACT [Orphanet:262146] synonym: "proximal 18q deletion" NARROW [GARD:0010866] @@ -250982,7 +251023,7 @@ subset: ordo_disorder {source="Orphanet:363665"} subset: orphanet_rare {source="Orphanet:363665"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PENTT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601812] +synonym: "PENTT" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Penttinen-aula syndrome" RELATED [GARD:0004276] synonym: "premature ageing syndrome Penttinen type" RELATED OMO:0003005 [] synonym: "premature ageing syndrome, Penttinen type" EXACT OMO:0003005 [] @@ -251008,9 +251049,9 @@ name: exudative vitreoretinopathy 4 subset: gard_rare {source="GARD:15337", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EVR4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601813] -synonym: "exudative vitreoretinopathy 4" EXACT [MONDO:Lexical, OMIM:601813] -synonym: "exudative vitreoretinopathy type 4" EXACT [MONDORULE:1, OMIM:601813] +synonym: "EVR4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "exudative vitreoretinopathy 4" EXACT [DOID:0111411, MONDO:Lexical, OMIM:601813] +synonym: "exudative vitreoretinopathy type 4" EXACT [MONDORULE:1] xref: DOID:0111411 {source="MONDO:equivalentTo"} xref: GARD:15337 {source="MONDO:GARD"} xref: MEDGEN:356171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -251032,9 +251073,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79351"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" RELATED [Orphanet:79351] -synonym: "PHGDH deficiency" EXACT [OMIM:601815] -synonym: "PHGDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601815] +synonym: "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" RELATED [] +synonym: "PHGDH deficiency" EXACT [DOID:0050722, OMIM:601815] +synonym: "PHGDHD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PHOSPHOGLYCERATE dehydrogenase deficiency" EXACT [DOID:0050722, MONDO:Lexical, OMIM:601815] xref: DOID:0050722 {source="MONDO:equivalentTo"} xref: GARD:16718 {source="MONDO:GARD"} @@ -251057,20 +251098,20 @@ subset: gard_rare {source="GARD:9927", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HHF2" RELATED ABBREVIATION [GARD:0009927, MONDO:Lexical, OMIM:601820] +synonym: "HHF2" RELATED ABBREVIATION [GARD:0009927, MONDO:Lexical] synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11" EXACT [] -synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" RELATED [OMIM:601820] +synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" RELATED [] synonym: "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hyperinsulinemic hypoglycemia familial 2" RELATED [GARD:0009927] synonym: "hyperinsulinemic hypoglycemia, familial, 2" EXACT [MONDO:Lexical, OMIM:601820] -synonym: "hyperinsulinemic hypoglycemia, familial, type 2" EXACT [MONDORULE:1, OMIM:601820] -synonym: "hyperinsulinemic hypoglycemia, persistent" RELATED [OMIM:601820] -synonym: "hyperinsulinism, congenital" RELATED [OMIM:601820] -synonym: "hyperinsulinism, familial" RELATED [OMIM:601820] -synonym: "hyperinsulinism, neonatal" RELATED [OMIM:601820] +synonym: "hyperinsulinemic hypoglycemia, familial, type 2" EXACT [MONDORULE:1] +synonym: "hyperinsulinemic hypoglycemia, persistent" RELATED [] +synonym: "hyperinsulinism, congenital" RELATED [] +synonym: "hyperinsulinism, familial" RELATED [] +synonym: "hyperinsulinism, neonatal" RELATED [] synonym: "KCNJ11 hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "nesidioblastosis" RELATED [OMIM:601820] -synonym: "persistent hyperinsulinemic hypoglycemia of infancy" RELATED [OMIM:601820] +synonym: "nesidioblastosis" RELATED [] +synonym: "persistent hyperinsulinemic hypoglycemia of infancy" RELATED [] xref: DOID:0070218 {source="MONDO:equivalentTo"} xref: GARD:9927 {source="MONDO:GARD"} xref: MEDGEN:419173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -251097,7 +251138,7 @@ subset: orphanet_rare {source="Orphanet:1787"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acrofacial dysostosis Palagonia type" RELATED [GARD:0000499] -synonym: "acrofacial dysostosis, Palagonia type" EXACT [OMIM:601829] +synonym: "acrofacial dysostosis, Palagonia type" EXACT [icd11.foundation:656294814, OMIM:601829, Orphanet:1787] synonym: "acrofacial dysostosis, Patagonia type" EXACT MISSPELLING [DOID:0060385] synonym: "AFD- Palagonia type" RELATED [GARD:0000499] synonym: "PAFD" RELATED ABBREVIATION [GARD:0000499] @@ -251118,8 +251159,8 @@ is_a: MONDO:0018237 {source="DC-OMIM:601829", source="DOID:0060385", source="Orp [Term] id: MONDO:0011155 name: vacuolar Neuromyopathy -synonym: "muscular dystrophy with rimmed vacuoles" EXACT [OMIM:601846, OMIM:genemap2] -synonym: "muscular dystrophy, autosomal dominant, with rimmed vacuoles" RELATED [OMIM:601846] +synonym: "muscular dystrophy with rimmed vacuoles" EXACT [] +synonym: "muscular dystrophy, autosomal dominant, with rimmed vacuoles" RELATED [] synonym: "vacuolar Neuromyopathy" EXACT [OMIM:601846] xref: MEDGEN:355637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566617 {source="MONDO:equivalentTo"} @@ -251139,13 +251180,13 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:79304"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABCB11 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "BSEP deficiency" EXACT [Orphanet:79304] -synonym: "cholestasis, progressive familial intrahepatic 2" EXACT [OMIM:601847, OMIM:genemap2] -synonym: "cholestasis, progressive familial intrahepatic, 2" RELATED [MONDO:Lexical, OMIM:601847] -synonym: "cholestasis, progressive familial intrahepatic, type 2" EXACT [MONDORULE:1, OMIM:601847] -synonym: "PFIC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601847, Orphanet:79304] +synonym: "BSEP deficiency" EXACT [DOID:0070222, Orphanet:79304] +synonym: "cholestasis, progressive familial intrahepatic 2" EXACT [] +synonym: "cholestasis, progressive familial intrahepatic, 2" RELATED [MONDO:Lexical] +synonym: "cholestasis, progressive familial intrahepatic, type 2" EXACT [MONDORULE:1] +synonym: "PFIC2" EXACT ABBREVIATION [DOID:0070222, MONDO:Lexical, OMIM:601847, Orphanet:79304] synonym: "progressive familial intrahepatic cholestasis caused by mutation in ABCB11" EXACT [MONDO:design_pattern] -synonym: "progressive familial intrahepatic cholestasis type 2" EXACT CLINGEN_LABEL [] +synonym: "progressive familial intrahepatic cholestasis type 2" EXACT CLINGEN_LABEL [icd11.foundation:1168921980, Orphanet:79304] synonym: "severe ABCB11 deficiency" RELATED [GARD:0001288] xref: DOID:0070222 {source="MONDO:equivalentTo"} xref: GARD:1288 {source="MONDO:GARD"} @@ -251178,16 +251219,16 @@ subset: orphanet_rare {source="Orphanet:1532"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cerebellotrigeminal dermal dysplasia" RELATED [GARD:0000229] -synonym: "Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia" RELATED [OMIM:601853] +synonym: "Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia" RELATED [] synonym: "Cerebellotrigeminal-dermal dysplasia" RELATED [GARD:0000229] synonym: "Cerebellotrigeminal-dermal dysplasia syndrome" EXACT [GARD:0000229, Orphanet:1532] synonym: "craniosynostosis-alopecia-brain defect syndrome" EXACT [GARD:0000229, Orphanet:1532] -synonym: "GLHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601853] +synonym: "GLHS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Gomez Lopez Hernandez syndrome" RELATED [GARD:0000229] -synonym: "GOMEZ-LOPEZ-HERNANDEZ syndrome" RELATED [OMIM:601853] +synonym: "GOMEZ-LOPEZ-HERNANDEZ syndrome" RELATED [] synonym: "Gomez-Lopez-Hernandez syndrome" EXACT [MONDO:Lexical, OMIM:601853] synonym: "Gomez-Lopez-Hernández syndrome" RELATED [GARD:0000229] -synonym: "Gómez-López-Hernández syndrome" RELATED [Orphanet:1532] +synonym: "Gómez-López-Hernández syndrome" RELATED [] xref: GARD:229 {source="MONDO:GARD"} xref: ICD10CM:Q07.8 {source="Orphanet:1532/attributed", source="Orphanet:1532/ntbt", source="Orphanet:1532"} xref: MEDGEN:163201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -251208,16 +251249,16 @@ name: autoimmune lymphoproliferative syndrome type 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ALPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601859] -synonym: "autoimmune lymphoproliferative syndrome" RELATED [MONDO:Lexical, OMIM:601859] +synonym: "ALPS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "autoimmune lymphoproliferative syndrome" RELATED [MONDO:Lexical] synonym: "autoimmune lymphoproliferative syndrome type 1" EXACT CLINGEN_LABEL [] -synonym: "autoimmune lymphoproliferative syndrome, type 1A" NARROW [OMIM:601859] -synonym: "autoimmune lymphoproliferative syndrome, type 1B" NARROW [OMIM:601859] -synonym: "autoimmune lymphoproliferative syndrome, type I, autosomal dominant" RELATED [OMIM:601859] -synonym: "autoimmune lymphoproliferative syndrome, type I, autosomal recessive" RELATED [OMIM:601859] -synonym: "autoimmune lymphoproliferative syndrome, type IA" EXACT [OMIM:601859, OMIM:genemap2] -synonym: "autoimmune lymphoproliferative syndrome, type IB" EXACT [OMIM:601859, OMIM:genemap2] -synonym: "Canale-Smith syndrome" RELATED [OMIM:601859] +synonym: "autoimmune lymphoproliferative syndrome, type 1A" NARROW [] +synonym: "autoimmune lymphoproliferative syndrome, type 1B" NARROW [] +synonym: "autoimmune lymphoproliferative syndrome, type I, autosomal dominant" RELATED [] +synonym: "autoimmune lymphoproliferative syndrome, type I, autosomal recessive" RELATED [] +synonym: "autoimmune lymphoproliferative syndrome, type IA" EXACT [] +synonym: "autoimmune lymphoproliferative syndrome, type IB" EXACT [] +synonym: "Canale-Smith syndrome" RELATED [] xref: ICD9:279.41 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:231300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601859 {source="MONDO:equivalentTo"} @@ -251234,14 +251275,14 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18108", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 13" NARROW [DOID:0110545] -synonym: "autosomal dominant nonsyndromic deafness 13" NARROW [OMIM:601868] +synonym: "autosomal dominant deafness 13" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 13" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COL11A2" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 13" NARROW [DOID:0110545, MONDORULE:2] +synonym: "autosomal dominant nonsyndromic deafness type 13" NARROW [MONDORULE:2] synonym: "COL11A2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal dominant 13" NARROW [MONDO:Lexical, OMIM:601868, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 13" NARROW [MONDORULE:2, OMIM:601868] -synonym: "DFNA13" NARROW ABBREVIATION [DOID:0110545, MONDO:Lexical, OMIM:601868] +synonym: "deafness, autosomal dominant 13" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 13" NARROW [MONDORULE:2] +synonym: "DFNA13" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110545 {source="MONDO:equivalentTo"} xref: GARD:18108 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110545"} @@ -251263,20 +251304,20 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22591", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 15" NARROW [DOID:0110470] -synonym: "autosomal recessive deafness 72" NARROW [DOID:0110470] -synonym: "autosomal recessive deafness 95" NARROW [DOID:0110470] -synonym: "autosomal recessive nonsyndromic deafness 15" NARROW [OMIM:601869] +synonym: "autosomal recessive deafness 15" NARROW [] +synonym: "autosomal recessive deafness 72" NARROW [] +synonym: "autosomal recessive deafness 95" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 15" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GIPC3" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 15" NARROW [DOID:0110470, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 15" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 15" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 15" NARROW [MONDO:Lexical, OMIM:601869, OMIM:genemap2] -synonym: "deafness, autosomal recessive 72" NARROW [OMIM:601869] -synonym: "deafness, autosomal recessive 95" NARROW [OMIM:601869] -synonym: "deafness, autosomal recessive type 15" NARROW [MONDORULE:2, OMIM:601869] -synonym: "DFNB15" NARROW ABBREVIATION [DOID:0110470, MONDO:Lexical, OMIM:601869] -synonym: "DFNB72" NARROW ABBREVIATION [DOID:0110470] -synonym: "DFNB95" NARROW ABBREVIATION [DOID:0110470] +synonym: "deafness, autosomal recessive 15" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive 72" NARROW [] +synonym: "deafness, autosomal recessive 95" NARROW [] +synonym: "deafness, autosomal recessive type 15" NARROW [MONDORULE:2] +synonym: "DFNB15" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "DFNB72" NARROW ABBREVIATION [] +synonym: "DFNB95" NARROW ABBREVIATION [] synonym: "GIPC3 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110470 {source="MONDO:equivalentTo"} xref: GARD:22591 {source="MONDO:GARD"} @@ -251296,10 +251337,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011161 name: sperm-specific antigen 1 synonym: "fertilisation antigen 1" RELATED OMO:0003005 [] -synonym: "fertilization antigen 1" RELATED [OMIM:601876] +synonym: "fertilization antigen 1" RELATED [] synonym: "sperm-specific antigen 1" EXACT [MONDO:Lexical, OMIM:601876] -synonym: "sperm-specific antigen type 1" EXACT [MONDORULE:1, OMIM:601876] -synonym: "SSFA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601876] +synonym: "sperm-specific antigen type 1" EXACT [MONDORULE:1] +synonym: "SSFA1" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:244171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601876 {source="MONDO:equivalentTo"} xref: UMLS:C1420425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:244171"} @@ -251313,9 +251354,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CAE3" NARROW ABBREVIATION [DOID:0110253] -synonym: "Cae3" RELATED [OMIM:601885] -synonym: "cataract 14, multiple types" RELATED [MONDO:Lexical, OMIM:601885] -synonym: "cataract, zonular pulverulent 3" RELATED [OMIM:601885] +synonym: "Cae3" RELATED [] +synonym: "cataract 14, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract, zonular pulverulent 3" RELATED [] synonym: "CTRCT14" EXACT ABBREVIATION [DOID:0110253, MONDO:Lexical, OMIM:601885] synonym: "CZP3" NARROW ABBREVIATION [DOID:0110253] synonym: "early-onset non-syndromic cataract caused by mutation in GJA3" EXACT [MONDO:design_pattern] @@ -251348,13 +251389,13 @@ synonym: "CACNA1S malignant hyperthermia of anesthesia" EXACT [MONDO:design_patt synonym: "malignant hyperpyrexia susceptibility type 5" RELATED [GARD:0003367, MESH:C535698] synonym: "malignant hyperthermia of anaesthesia caused by mutation in CACNA1S" EXACT OMO:0003005 [] synonym: "malignant hyperthermia of anesthesia caused by mutation in CACNA1S" EXACT [MONDO:design_pattern] -synonym: "malignant hyperthermia susceptibility 5" EXACT [OMIM:601887, OMIM:genemap2] +synonym: "malignant hyperthermia susceptibility 5" EXACT [] synonym: "malignant hyperthermia susceptibility type 5" RELATED [GARD:0003367] synonym: "malignant hyperthermia, susceptibility to, 5" EXACT CLINGEN_LABEL [MESH:C535698, OMIM:601887] -synonym: "malignant hyperthermia, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:601887] +synonym: "malignant hyperthermia, susceptibility to, type 5" EXACT [MONDORULE:1] synonym: "MHS5" RELATED ABBREVIATION [GARD:0003367, MESH:C535698] -synonym: "Mhs5" RELATED [OMIM:601887] -synonym: "susceptibility to malignant hyperthermia 5" RELATED [OMIM:601887] +synonym: "Mhs5" RELATED [] +synonym: "susceptibility to malignant hyperthermia 5" RELATED [] xref: MEDGEN:356151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535698 {source="MONDO:equivalentTo"} xref: OMIM:601887 {source="GARD:0003367", source="MONDO:equivalentTo"} @@ -251374,12 +251415,12 @@ id: MONDO:0011164 name: malignant hyperthermia, susceptibility to, 6 subset: predisposition synonym: "malignant hyperpyrexia susceptibility type 6" RELATED [GARD:0003368, MESH:C535699] -synonym: "malignant hyperthermia susceptibility 6" EXACT [OMIM:601888, OMIM:genemap2] +synonym: "malignant hyperthermia susceptibility 6" EXACT [] synonym: "malignant hyperthermia susceptibility type 6" RELATED [GARD:0003368] synonym: "malignant hyperthermia, susceptibility to, 6" EXACT [MESH:C535699, OMIM:601888] -synonym: "malignant hyperthermia, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:601888] +synonym: "malignant hyperthermia, susceptibility to, type 6" EXACT [MONDORULE:1] synonym: "MHS6" RELATED ABBREVIATION [GARD:0003368, MESH:C535699] -synonym: "Mhs6" RELATED [OMIM:601888] +synonym: "Mhs6" RELATED [] xref: MEDGEN:356150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535699 {source="MONDO:equivalentTo"} xref: OMIM:601888 {source="GARD:0003368", source="MONDO:equivalentTo"} @@ -251399,14 +251440,14 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:9914", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "fibronectin glomerulopathy" RELATED [OMIM:601894] +synonym: "fibronectin glomerulopathy" RELATED [] synonym: "fibronectin glomerulopathy caused by mutation in FN1" EXACT [MONDO:design_pattern] synonym: "FN1 fibronectin glomerulopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "GFND2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601894] +synonym: "GFND2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "glomerular nephritis familial with fibronectin deposits" RELATED [GARD:0009914] -synonym: "glomerular nephritis, familial, with fibronectin deposits" RELATED [OMIM:601894] +synonym: "glomerular nephritis, familial, with fibronectin deposits" RELATED [] synonym: "glomerulopathy with fibronectin deposits 2" EXACT [MONDO:Lexical, OMIM:601894] -synonym: "glomerulopathy with fibronectin deposits type 2" EXACT [MONDORULE:1, OMIM:601894] +synonym: "glomerulopathy with fibronectin deposits type 2" EXACT [MONDORULE:1] xref: GARD:9914 {source="MONDO:GARD"} xref: MEDGEN:356149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601894 {source="MONDO:equivalentTo"} @@ -251435,8 +251476,8 @@ synonym: "Irons Bhan syndrome" RELATED [GARD:0000284] synonym: "Irons-Bhan syndrome" EXACT [Orphanet:86915] synonym: "Irons-Bianchi syndrome" EXACT [OMIM:601927, Orphanet:86915] synonym: "lymphedema, atrial septal defect, and characteristic facial changes" RELATED [GARD:0000284, MESH:C535539] -synonym: "lymphedema, atrial septal defect, and characteristic facies" RELATED [OMIM:601927] -synonym: "lymphedema, CARDIAC septal defects, and characteristic facies" RELATED [OMIM:601927] +synonym: "lymphedema, atrial septal defect, and characteristic facies" RELATED [] +synonym: "lymphedema, CARDIAC septal defects, and characteristic facies" RELATED [] xref: GARD:284 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:86915", source="Orphanet:86915/attributed", source="Orphanet:86915/ntbt"} xref: MEDGEN:383042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -251457,9 +251498,9 @@ id: MONDO:0011167 name: type 1 diabetes mellitus 6 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21." [DOID:0110745, MONDO:patterns/inherited_susceptibility, PMID:9215667] subset: predisposition -synonym: "autoimmune thyroid disease, susceptibility to, 5" RELATED [OMIM:601941] -synonym: "diabetes mellitus, insulin-dependent, 6" RELATED [MONDO:Lexical, OMIM:601941] -synonym: "IDDM6" EXACT ABBREVIATION [DOID:0110745, MONDO:Lexical, OMIM:601941] +synonym: "autoimmune thyroid disease, susceptibility to, 5" RELATED [] +synonym: "diabetes mellitus, insulin-dependent, 6" RELATED [MONDO:Lexical] +synonym: "IDDM6" EXACT ABBREVIATION [DOID:0110745, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 6" EXACT [DOID:0110745, OMIM:601941] xref: DOID:0110745 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110745"} @@ -251477,10 +251518,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011168 name: type 1 diabetes mellitus 10 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] -synonym: "diabetes mellitus, insulin-dependent, 10" RELATED [MONDO:Lexical, OMIM:601942] -synonym: "diabetes mellitus, insulin-dependent, type 10" EXACT [MONDORULE:2, OMIM:601942] -synonym: "diabetes, mellitus, insulin-dependent, susceptibility to, 10" RELATED [OMIM:601942, OMIM:genemap2] -synonym: "IDDM10" EXACT ABBREVIATION [DOID:0110749, MONDO:Lexical, OMIM:601942] +synonym: "diabetes mellitus, insulin-dependent, 10" RELATED [MONDO:Lexical] +synonym: "diabetes mellitus, insulin-dependent, type 10" EXACT [MONDORULE:2] +synonym: "diabetes, mellitus, insulin-dependent, susceptibility to, 10" RELATED [] +synonym: "IDDM10" EXACT ABBREVIATION [DOID:0110749, MONDO:Lexical] synonym: "IL2RA type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "insulin-dependent diabetes mellitus 10" EXACT [DOID:0110749, OMIM:601942] synonym: "type 1 diabetes mellitus caused by mutation in IL2RA" EXACT [MONDO:design_pattern] @@ -251510,11 +251551,11 @@ subset: ordo_disorder {source="Orphanet:281201"} subset: orphanet_rare {source="Orphanet:281201"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "keratosis linearis with ichthyosis congenita and sclerosing keratoderma" RELATED [OMIM:601952] -synonym: "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" EXACT CLINGEN_LABEL [] -synonym: "KLICK" RELATED ABBREVIATION [OMIM:601952] -synonym: "KLICK syndrome" EXACT [Orphanet:281201] -synonym: "Klick syndrome" RELATED [OMIM:601952] +synonym: "keratosis linearis with ichthyosis congenita and sclerosing keratoderma" RELATED [] +synonym: "keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome" EXACT CLINGEN_LABEL [Orphanet:281201] +synonym: "KLICK" RELATED ABBREVIATION [] +synonym: "KLICK syndrome" EXACT [OMIM:601952, Orphanet:281201] +synonym: "Klick syndrome" RELATED [] xref: GARD:17306 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:281201/attributed", source="Orphanet:281201/ntbt", source="Orphanet:281201"} xref: MEDGEN:356430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -251542,10 +251583,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP" EXACT [] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap" EXACT [MONDO:design_pattern] -synonym: "LGMD2G" EXACT ABBREVIATION [DOID:0110281, MONDO:Lexical, OMIM:601954, Orphanet:34514] +synonym: "LGMD2G" EXACT ABBREVIATION [DOID:0110281, MONDO:Lexical, Orphanet:34514] synonym: "limb-girdle muscular dystrophy due to telethonin deficiency" EXACT [DOID:0110281, Orphanet:34514] synonym: "limb-girdle muscular dystrophy, type 2G" RELATED [GARD:0010471] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 7" EXACT [OMIM:601954, OMIM:genemap2] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 7" EXACT [OMIM:601954] synonym: "muscular dystrophy, limb-girdle, type 2G" EXACT [DOID:0110281, MONDO:Lexical, OMIM:601954] synonym: "TCAP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Tcap autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] @@ -251576,9 +251617,9 @@ subset: orphanet_rare {source="Orphanet:69082"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type" EXACT [Orphanet:69082] -synonym: "ODONTOTRICHOUNGUAL-digital-palmar syndrome" RELATED [OMIM:601957] -synonym: "OTUDP syndrome" EXACT [Orphanet:69082] -synonym: "Otudp syndrome" RELATED [OMIM:601957] +synonym: "ODONTOTRICHOUNGUAL-digital-palmar syndrome" RELATED [] +synonym: "OTUDP syndrome" EXACT [OMIM:601957, Orphanet:69082] +synonym: "Otudp syndrome" RELATED [] xref: GARD:16679 {source="MONDO:GARD"} xref: icd11.foundation:386386782 {source="MONDO:equivalentTo"} xref: MEDGEN:400891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -251610,10 +251651,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial thrombocytosis caused by mutation in MPL" EXACT [MONDO:design_pattern] synonym: "MPL familial thrombocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "THCYT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:601977] +synonym: "THCYT2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "thrombocythemia 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:601977] -synonym: "thrombocythemia 2, autosomal dominant, somatic mutation" EXACT [OMIM:601977, OMIM:genemap2] -synonym: "thrombocythemia type 2" EXACT [MONDORULE:1, OMIM:601977] +synonym: "thrombocythemia 2, autosomal dominant, somatic mutation" EXACT [] +synonym: "thrombocythemia type 2" EXACT [MONDORULE:1] xref: MEDGEN:477629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601977 {source="MONDO:equivalentTo"} xref: Orphanet:3318 {source="OMIM:601977"} @@ -251645,8 +251686,8 @@ def: "Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosom subset: gard_rare {source="GARD:15340", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "FRDA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601992] -synonym: "Friedreich ataxia 2" EXACT [MONDO:Lexical, OMIM:601992] +synonym: "FRDA2" EXACT ABBREVIATION [DOID:0111219, MONDO:Lexical, OMIM:601992] +synonym: "Friedreich ataxia 2" EXACT [DOID:0111219, MONDO:Lexical, OMIM:601992] xref: DOID:0111219 {source="MONDO:equivalentTo"} xref: GARD:15340 {source="MONDO:GARD"} xref: MEDGEN:356134 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -251667,20 +251708,20 @@ subset: orphanet_rare {source="Orphanet:30924"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial primary hypomagnesemia caused by mutation in TRPM6" EXACT [] -synonym: "Homg" RELATED [OMIM:602014] +synonym: "Homg" RELATED [] synonym: "HOMG1" EXACT ABBREVIATION [DOID:0060883, MONDO:Lexical, OMIM:602014, Orphanet:30924] synonym: "HSH" EXACT ABBREVIATION [Orphanet:30924] -synonym: "hypomagnesemia 1, intestinal" RELATED [MONDO:Lexical, OMIM:602014] +synonym: "hypomagnesemia 1, intestinal" RELATED [MONDO:Lexical] synonym: "hypomagnesemia caused by selective magnesium malabsorption" EXACT [DOID:0060883, Orphanet:30924] synonym: "hypomagnesemia intestinal type 1" EXACT [DOID:0060883, Orphanet:30924] -synonym: "hypomagnesemia with secondary hypocalcemia" RELATED [OMIM:602014] -synonym: "hypomagnesemia, intestinal, with secondary hypocalcemia" RELATED [OMIM:602014] +synonym: "hypomagnesemia with secondary hypocalcemia" RELATED [] +synonym: "hypomagnesemia, intestinal, with secondary hypocalcemia" RELATED [] synonym: "hypomagnesemic tetany" EXACT [DOID:0060883, OMIM:602014] -synonym: "intestinal hypomagnesemia type 1" EXACT [DOID:0060883, MONDORULE:1] +synonym: "intestinal hypomagnesemia type 1" EXACT [MONDORULE:1] synonym: "intestinal hypomagnesemia with secondary hypocalcemia" EXACT [DOID:0060883, Orphanet:30924] synonym: "PHSH" EXACT ABBREVIATION [Orphanet:30924] synonym: "primary hypomagnesemia caused by mutation in TRPM6" EXACT [MONDO:design_pattern] -synonym: "primary hypomagnesemia with secondary hypocalcemia" EXACT [DOID:0060883] +synonym: "primary hypomagnesemia with secondary hypocalcemia" EXACT [DOID:0060883, Orphanet:30924] synonym: "TRPM6 familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "TRPM6 primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060883 {source="MONDO:equivalentTo"} @@ -251705,9 +251746,9 @@ def: "Any pure hair and nail ectodermal dysplasia in which the cause of the dise subset: gard_rare {source="GARD:18062", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602032] -synonym: "ectodermal dysplasia 4, hair/nail type" EXACT [MONDO:Lexical, OMIM:602032] -synonym: "ectodermal dysplasia, 'Pure' hair/nail type" RELATED [OMIM:602032] +synonym: "ECTD4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ectodermal dysplasia 4, hair/nail type" EXACT [DOID:0111658, MONDO:Lexical, OMIM:602032] +synonym: "ectodermal dysplasia, 'Pure' hair/nail type" RELATED [] synonym: "KRT85 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pili torti onychodysplasia" RELATED [GARD:0004364] synonym: "pure hair and nail ectodermal dysplasia caused by mutation in KRT85" EXACT [MONDO:design_pattern] @@ -251734,16 +251775,16 @@ subset: ordo_disorder {source="Orphanet:31709"} subset: orphanet_rare {source="Orphanet:31709"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "convulsions, familial infantile, with paroxysmal choreoathetosis" RELATED [MONDO:Lexical, OMIM:602066] +synonym: "convulsions, familial infantile, with paroxysmal choreoathetosis" RELATED [MONDO:Lexical] synonym: "convulsions, infantile, with paroxysmal choreoathetosis, familial" RELATED [GARD:0008553] -synonym: "ICCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602066] -synonym: "ICCA syndrome" EXACT [Orphanet:31709] -synonym: "Icca syndrome" RELATED [OMIM:602066] -synonym: "infantile convulsions and choreoathetosis" EXACT CLINGEN_LABEL [] -synonym: "infantile convulsions and paroxysmal choreoathetosis, familial" RELATED [OMIM:602066] +synonym: "ICCA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ICCA syndrome" EXACT [NCIT:C126650, OMIM:602066, Orphanet:31709] +synonym: "Icca syndrome" RELATED [] +synonym: "infantile convulsions and choreoathetosis" EXACT CLINGEN_LABEL [Orphanet:31709] +synonym: "infantile convulsions and paroxysmal choreoathetosis, familial" RELATED [] synonym: "paroxysmal kinesigenic dyskinesia and infantile convulsions" EXACT [Orphanet:31709] -synonym: "paroxysmal kinesigenic dyskinesia with infantile convulsions" RELATED [OMIM:602066] -synonym: "PKD/IC" EXACT [NCIT:C126650] +synonym: "paroxysmal kinesigenic dyskinesia with infantile convulsions" RELATED [] +synonym: "PKD/IC" EXACT ABBREVIATION [NCIT:C126650] xref: GARD:8553 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:31709/attributed", source="Orphanet:31709/ntbt", source="Orphanet:31709"} xref: MEDGEN:356123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -251788,12 +251829,12 @@ def: "Any congenital fibrosis of extraocular muscles in which the cause of the d subset: gard_rare {source="GARD:15341", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CFEOM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602078] +synonym: "CFEOM2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "congenital fibrosis of extraocular muscles caused by mutation in PHOX2A" EXACT [MONDO:design_pattern] -synonym: "Feom2 locus" RELATED [OMIM:602078] +synonym: "Feom2 locus" RELATED [] synonym: "fibrosis of extraocular muscles, congenital, 2" EXACT [MONDO:Lexical, OMIM:602078] -synonym: "fibrosis of extraocular muscles, congenital, autosomal recessive" RELATED [OMIM:602078] -synonym: "fibrosis of extraocular muscles, congenital, type 2" EXACT [MONDORULE:1, OMIM:602078] +synonym: "fibrosis of extraocular muscles, congenital, autosomal recessive" RELATED [] +synonym: "fibrosis of extraocular muscles, congenital, type 2" EXACT [MONDORULE:1] synonym: "PHOX2A congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081016 {source="MONDO:equivalentTo"} xref: GARD:15341 {source="MONDO:GARD"} @@ -251818,13 +251859,13 @@ subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fish malodor syndrome" RELATED [GARD:0006447] -synonym: "fish odor syndrome" EXACT [GARD:0006447, Orphanet:35056] -synonym: "fish odour syndrome" EXACT OMO:0003005 [] -synonym: "fish-odor syndrome" EXACT [OMIM:602079] +synonym: "fish odor syndrome" EXACT [GARD:0006447] +synonym: "fish odour syndrome" EXACT OMO:0003005 [icd11.foundation:685690588] +synonym: "fish-odor syndrome" EXACT [] synonym: "stale fish syndrome" RELATED [GARD:0006447] -synonym: "TMAU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602079] +synonym: "TMAU" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TMAuria" RELATED [GARD:0006447] -synonym: "trimethylaminuria" EXACT CLINGEN_LABEL [MONDO:ambiguous, MONDO:Lexical, OMIM:602079] +synonym: "trimethylaminuria" EXACT CLINGEN_LABEL [icd11.foundation:685690588, MONDO:ambiguous, MONDO:Lexical] synonym: "trimethylaminuria (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0003614 {source="MONDO:otherHierarchy"} xref: icd11.foundation:685690588 {source="MONDO:equivalentTo"} @@ -251848,7 +251889,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Paget disease of bone 2, early-onset" EXACT [MONDO:Lexical, OMIM:602080] -synonym: "PDB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602080] +synonym: "PDB2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081365 {source="MONDO:equivalentTo"} xref: MEDGEN:899166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:602080 {source="MONDO:equivalentTo"} @@ -251869,16 +251910,16 @@ subset: orphanet_rare {source="Orphanet:209908"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "articulatory apraxia" RELATED [GARD:0012889] -synonym: "CAS" EXACT ABBREVIATION [Orphanet:209908] -synonym: "childhood apraxia of speech" EXACT [OMIM:602081] +synonym: "CAS" EXACT ABBREVIATION [DOID:0111275] +synonym: "childhood apraxia of speech" EXACT [DOID:0111275, icd11.foundation:1590154825, OMIM:602081] synonym: "das" RELATED [GARD:0012889] synonym: "developmental apraxia of speech" RELATED [GARD:0012889] synonym: "developmental verbal apraxia" RELATED [GARD:0012889] -synonym: "developmental verbal dyspraxia" EXACT [OMIM:602081, Orphanet:209908] -synonym: "SPCH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602081] -synonym: "speech and language disorder with orofacial dyspraxia" EXACT [OMIM:602081, Orphanet:209908] -synonym: "speech-language disorder 1" RELATED [MONDO:Lexical, OMIM:602081] -synonym: "speech-language disorder type 1" EXACT [MONDORULE:1, OMIM:602081, Orphanet:209908] +synonym: "developmental verbal dyspraxia" EXACT [DOID:0111275, OMIM:602081] +synonym: "SPCH1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "speech and language disorder with orofacial dyspraxia" EXACT [DOID:0111275, OMIM:602081, Orphanet:209908] +synonym: "speech-language disorder 1" RELATED [MONDO:Lexical] +synonym: "speech-language disorder type 1" EXACT [DOID:0111275, MONDORULE:1, Orphanet:209908] synonym: "speech-language disorder-1" RELATED [GARD:0012889] xref: DOID:0111275 {source="MONDO:equivalentTo"} xref: GARD:12889 {source="MONDO:GARD"} @@ -251905,22 +251946,22 @@ subset: rare synonym: "anterior limiting membrane dystrophy type 2" EXACT [Orphanet:98960] synonym: "anterior limiting membrane dystrophy type II" EXACT [DOID:0060455, Orphanet:98960] synonym: "CDB2" RELATED ABBREVIATION [GARD:0009275] -synonym: "CDTB" RELATED ABBREVIATION [GARD:0009275, MONDO:Lexical, OMIM:602082] +synonym: "CDTB" RELATED ABBREVIATION [GARD:0009275, MONDO:Lexical] synonym: "corneal dystrophy honeycomb shaped" RELATED [GARD:0009275] synonym: "corneal dystrophy honeycomb-shaped" EXACT [DOID:0060455] synonym: "corneal dystrophy of Bowman layer type 2" EXACT [Orphanet:98960] synonym: "corneal dystrophy of Bowman layer type II" EXACT [DOID:0060455, Orphanet:98960] -synonym: "corneal dystrophy of Bowman Layer, type 2" RELATED [OMIM:602082] +synonym: "corneal dystrophy of Bowman Layer, type 2" RELATED [] synonym: "corneal dystrophy of the Bowman layer type 2" RELATED [GARD:0009275] synonym: "corneal dystrophy Thiel Behnke type" RELATED [GARD:0009275] -synonym: "corneal dystrophy, honeycomb-Shaped" RELATED [OMIM:602082] -synonym: "corneal dystrophy, Thiel-Behnke type" RELATED [MONDO:Lexical, OMIM:602082] +synonym: "corneal dystrophy, honeycomb-Shaped" RELATED [] +synonym: "corneal dystrophy, Thiel-Behnke type" RELATED [MONDO:Lexical] synonym: "curly fiber corneal dystrophy" EXACT [Orphanet:98960] synonym: "curly fibre corneal dystrophy" EXACT OMO:0003005 [] synonym: "honeycomb corneal dystrophy" EXACT [Orphanet:98960] synonym: "TBCD" EXACT ABBREVIATION [DOID:0060455, GARD:0009275, Orphanet:98960] synonym: "Thiel Behnke corneal dystrophy" RELATED [GARD:0009275] -synonym: "Thiel-Behnke corneal dystrophy" EXACT [OMIM:602082] +synonym: "Thiel-Behnke corneal dystrophy" EXACT [DOID:0060455, icd11.foundation:2082568100, OMIM:602082, Orphanet:98960] synonym: "Waardenburg-Jonker corneal dystrophy" EXACT [DOID:0060455, Orphanet:98960] xref: DOID:0060455 {source="MONDO:equivalentTo"} xref: GARD:9275 {source="MONDO:GARD"} @@ -251946,10 +251987,10 @@ subset: gard_rare {source="GARD:10043", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "USH1F" EXACT ABBREVIATION [DOID:0110832, MONDO:Lexical, OMIM:602083] -synonym: "Usher syndrome type 1F" EXACT CLINGEN_LABEL [] +synonym: "Usher syndrome type 1F" EXACT CLINGEN_LABEL [DOID:0110832] synonym: "Usher syndrome type IF" EXACT [DOID:0110832] synonym: "Usher syndrome, type 1F" RELATED [GARD:0010043] -synonym: "USHER syndrome, type IF" RELATED [MONDO:Lexical, OMIM:602083] +synonym: "USHER syndrome, type IF" RELATED [MONDO:Lexical] xref: DOID:0110832 {source="MONDO:equivalentTo"} xref: GARD:10043 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="DOID:0110832", source="MONDO:relatedTo"} @@ -251970,9 +252011,9 @@ name: polydactyly, postaxial, type A2 subset: gard_rare {source="GARD:18173", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PAPA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602085] +synonym: "PAPA2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "polydactyly, postaxial, type A2" EXACT [MONDO:Lexical, OMIM:602085] -synonym: "postaxial polydactyly, type A2" RELATED [OMIM:602085] +synonym: "postaxial polydactyly, type A2" RELATED [] xref: GARD:18173 {source="MONDO:GARD"} xref: MEDGEN:356392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566585 {source="MONDO:equivalentTo"} @@ -251989,8 +252030,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arrhythmogenic right ventricular cardiomyopathy 3" EXACT [DOID:0110072, OMIM:602086] -synonym: "arrhythmogenic right ventricular dysplasia type 3" EXACT [DOID:0110072, MONDORULE:1] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 3" RELATED [MONDO:Lexical, OMIM:602086] +synonym: "arrhythmogenic right ventricular dysplasia type 3" EXACT [MONDORULE:1] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 3" RELATED [MONDO:Lexical] synonym: "ARVC3" EXACT ABBREVIATION [DOID:0110072] synonym: "ARVD3" EXACT ABBREVIATION [DOID:0110072, MONDO:Lexical, OMIM:602086] synonym: "familial arrhythmogenic right ventricular dysplasia 3" EXACT [DOID:0110072] @@ -252011,11 +252052,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arrhythmogenic right ventricular cardiomyopathy 4" EXACT [DOID:0110073, OMIM:602087] -synonym: "arrhythmogenic right ventricular dysplasia type 4" EXACT [DOID:0110073, MONDORULE:1] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 4" RELATED [MONDO:Lexical, OMIM:602087] +synonym: "arrhythmogenic right ventricular dysplasia type 4" EXACT [MONDORULE:1] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 4" RELATED [MONDO:Lexical] synonym: "ARVC4" EXACT ABBREVIATION [DOID:0110073] synonym: "ARVD4" EXACT ABBREVIATION [DOID:0110073, MONDO:Lexical, OMIM:602087] -synonym: "fanilial arrhythmogenic right ventricular dysplasia 4" EXACT [DOID:0110073] +synonym: "fanilial arrhythmogenic right ventricular dysplasia 4" EXACT [] xref: DOID:0110073 {source="MONDO:equivalentTo"} xref: ICD10CM:I42.8 {source="DOID:0110073"} xref: MEDGEN:356107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -252038,11 +252079,11 @@ subset: rare synonym: "infantile nephronophthisis 2" EXACT [DOID:0111113] synonym: "INVS nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nephronophthisis (disease) caused by mutation in INVS" EXACT [] -synonym: "nephronophthisis 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:602088] -synonym: "nephronophthisis 2, infantile" EXACT [OMIM:602088, OMIM:genemap2] -synonym: "nephronophthisis type 2" EXACT [DOID:0111113, MONDORULE:1, OMIM:602088] -synonym: "NPH2" EXACT ABBREVIATION [DOID:0111113] -synonym: "Nph2" RELATED [OMIM:602088] +synonym: "nephronophthisis 2" EXACT CLINGEN_LABEL [DOID:0111113, MONDO:Lexical, OMIM:602088] +synonym: "nephronophthisis 2, infantile" EXACT [] +synonym: "nephronophthisis type 2" EXACT [MONDORULE:1] +synonym: "NPH2" EXACT ABBREVIATION [DOID:0111113, OMIM:602088] +synonym: "Nph2" RELATED [] synonym: "NPHP2" EXACT ABBREVIATION [DOID:0111113, MONDO:Lexical, OMIM:602088] xref: DOID:0111113 {source="MONDO:equivalentTo"} xref: GARD:18182 {source="MONDO:GARD"} @@ -252067,9 +252108,9 @@ def: "Capillary hemangiomas are benign, highly proliferative lesions involving a subset: otar {source="MONDO:OTAR"} synonym: "HCI" EXACT ABBREVIATION [OMIM:602089] synonym: "hemangioma, capillary infantile" EXACT [OMIM:602089] -synonym: "hemangioma, capillary infantile, somatic" EXACT [OMIM:602089, OMIM:genemap2] +synonym: "hemangioma, capillary infantile, somatic" EXACT [] synonym: "hemangioma, hereditary capillary" EXACT [OMIM:602089] -synonym: "hereditary capillary infantile hemangioma" EXACT [Orphanet:464293] +synonym: "hereditary capillary infantile hemangioma" EXACT [] xref: MEDGEN:355573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535860 {source="MONDO:equivalentTo"} xref: OMIM:602089 {source="MONDO:equivalentTo"} @@ -252094,15 +252135,15 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22592", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 18A" NARROW [DOID:0110473] -synonym: "autosomal recessive nonsyndromic deafness 18A" NARROW [OMIM:602092] +synonym: "autosomal recessive deafness 18A" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 18A" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in USH1C" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 18A" NARROW [DOID:0110473, MONDORULE:4] -synonym: "deafness, autosomal recessive 18" NARROW [OMIM:602092] -synonym: "deafness, autosomal recessive 18A" NARROW [MONDO:Lexical, OMIM:602092] -synonym: "deafness, autosomal recessive 18a" NARROW [OMIM:602092, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 18A" NARROW [MONDORULE:4, OMIM:602092] -synonym: "DFNB18A" NARROW ABBREVIATION [DOID:0110473, MONDO:Lexical, OMIM:602092] +synonym: "autosomal recessive nonsyndromic deafness type 18A" NARROW [MONDORULE:4] +synonym: "deafness, autosomal recessive 18" NARROW [] +synonym: "deafness, autosomal recessive 18A" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive 18a" NARROW [] +synonym: "deafness, autosomal recessive type 18A" NARROW [MONDORULE:4] +synonym: "DFNB18A" NARROW ABBREVIATION [MONDO:Lexical] synonym: "USH1C autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110473 {source="MONDO:equivalentTo"} xref: GARD:22592 {source="MONDO:GARD"} @@ -252126,14 +252167,14 @@ subset: gard_rare {source="GARD:15342", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602093] +synonym: "COD3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "cone dystrophy 3" EXACT [MONDO:Lexical, OMIM:602093] synonym: "cone dystrophy caused by mutation in GUCA1A" EXACT [MONDO:design_pattern] -synonym: "cone dystrophy type 3" EXACT [MONDORULE:1, OMIM:602093] -synonym: "cone dystrophy-3" EXACT [OMIM:602093, OMIM:genemap2] -synonym: "cone-rod dystrophy 14" RELATED [OMIM:602093] +synonym: "cone dystrophy type 3" EXACT [MONDORULE:1] +synonym: "cone dystrophy-3" EXACT [] +synonym: "cone-rod dystrophy 14" RELATED [] synonym: "GUCA1A cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinal cone dystrophy" RELATED [OMIM:602093] +synonym: "retinal cone dystrophy" RELATED [] xref: DOID:0080314 {source="MONDO:equivalentTo"} xref: GARD:15342 {source="MONDO:GARD"} xref: MEDGEN:356104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -252155,15 +252196,15 @@ id: MONDO:0011194 name: Alzheimer disease 5 subset: gard_rare {source="GARD:16507", source="MONDO:GARD"} subset: rare -synonym: "AD5" EXACT ABBREVIATION [DOID:0110037] -synonym: "Ad5" RELATED [OMIM:602096] +synonym: "AD5" EXACT ABBREVIATION [DOID:0110037, OMIM:602096] +synonym: "Ad5" RELATED [] synonym: "Alzheimer disease 5" EXACT [DOID:0110037, OMIM:602096] -synonym: "Alzheimer disease type 5" EXACT [MONDORULE:1, OMIM:602096] +synonym: "Alzheimer disease type 5" EXACT [MONDORULE:1] synonym: "Alzheimer disease, familial 5" EXACT [DOID:0110037] -synonym: "Alzheimer disease, familial, 5" RELATED [OMIM:602096] -synonym: "Alzheimer disease-5" EXACT [OMIM:602096, OMIM:genemap2] -synonym: "Alzheimer's disease 5" RELATED [DOID:0110037] -synonym: "Alzheimer's disease type 5" EXACT [DOID:0110037, MONDORULE:1] +synonym: "Alzheimer disease, familial, 5" RELATED [] +synonym: "Alzheimer disease-5" EXACT [] +synonym: "Alzheimer's disease 5" RELATED [] +synonym: "Alzheimer's disease type 5" EXACT [MONDORULE:1] xref: DOID:0110037 {source="MONDO:equivalentTo"} xref: GARD:16507 {source="MONDO:GARD"} xref: ICD10CM:G30 {source="DOID:0110037"} @@ -252185,7 +252226,7 @@ subset: rare synonym: "USH1E" EXACT ABBREVIATION [DOID:0110833, MONDO:Lexical, OMIM:602097] synonym: "Usher syndrome type IE" EXACT [DOID:0110833] synonym: "Usher syndrome, type 1E" RELATED [GARD:0005439] -synonym: "USHER syndrome, type IE" RELATED [MONDO:Lexical, OMIM:602097] +synonym: "USHER syndrome, type IE" RELATED [MONDO:Lexical] xref: DOID:0110833 {source="MONDO:equivalentTo"} xref: GARD:5439 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="DOID:0110833", source="MONDO:relatedTo"} @@ -252207,8 +252248,8 @@ subset: gard_rare {source="GARD:15343", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ALS5" EXACT ABBREVIATION [DOID:0060197, MONDO:Lexical, OMIM:602099] -synonym: "amyotrophic lateral sclerosis 5" EXACT [DOID:0060197, OMIM:602099] -synonym: "amyotrophic lateral sclerosis 5, juvenile" RELATED [MONDO:Lexical, OMIM:602099] +synonym: "amyotrophic lateral sclerosis 5" EXACT [DOID:0060197] +synonym: "amyotrophic lateral sclerosis 5, juvenile" RELATED [MONDO:Lexical] synonym: "amyotrophic lateral sclerosis caused by mutation in SPG11" EXACT [MONDO:design_pattern] synonym: "SPG11 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060197 {source="MONDO:equivalentTo"} @@ -252234,7 +252275,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:84093"} subset: orphanet_rare {source="Orphanet:84093"} subset: rare -synonym: "neuropathy, hereditary thermosensitive" RELATED [OMIM:602107] +synonym: "neuropathy, hereditary thermosensitive" RELATED [] xref: GARD:16731 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:84093/attributed", source="Orphanet:84093/ntbt", source="Orphanet:84093"} xref: icd11.foundation:1124144144 {source="MONDO:equivalentTo"} @@ -252259,14 +252300,14 @@ subset: ordo_disorder {source="Orphanet:93356"} subset: orphanet_rare {source="Orphanet:93356"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "metaphyseal anadysplasia 1" RELATED [OMIM:602111] +synonym: "metaphyseal anadysplasia 1" RELATED [] synonym: "Missouri type of spondyloepimetaphyseal dysplasia" RELATED [GARD:0010618] synonym: "SEMD Missouri type" RELATED [GARD:0010618] synonym: "SEMD type 2" EXACT [Orphanet:93356] synonym: "SEMD, Missouri type" EXACT [OMIM:602111, Orphanet:93356] synonym: "spondyloepimetaphyseal dysplasia Missouri type" RELATED [GARD:0010618] synonym: "spondyloepimetaphyseal dysplasia type 2" EXACT [Orphanet:93356] -synonym: "spondyloepimetaphyseal dysplasia, Missouri type" EXACT [OMIM:602111] +synonym: "spondyloepimetaphyseal dysplasia, Missouri type" EXACT [DOID:0080030, icd11.foundation:1593289281, OMIM:602111, Orphanet:93356] xref: DOID:0080030 {source="MONDO:equivalentTo"} xref: GARD:10618 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93356", source="Orphanet:93356/attributed", source="Orphanet:93356/ntbt"} @@ -252309,12 +252350,12 @@ subset: gard_rare {source="GARD:7782", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cervical dystonia, primary" RELATED [OMIM:602124] -synonym: "dystonia 7, torsion" RELATED [MONDO:Lexical, OMIM:602124] -synonym: "dystonia-7, torsion" EXACT [OMIM:602124, OMIM:genemap2] -synonym: "DYT7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602124] -synonym: "torsion dystonia type 7" EXACT [DOID:0090040, MONDORULE:1] -synonym: "torsion dystonia, focal adult-onset" RELATED [OMIM:602124] +synonym: "cervical dystonia, primary" RELATED [] +synonym: "dystonia 7, torsion" RELATED [MONDO:Lexical] +synonym: "dystonia-7, torsion" EXACT [] +synonym: "DYT7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "torsion dystonia type 7" EXACT [MONDORULE:1] +synonym: "torsion dystonia, focal adult-onset" RELATED [] xref: DOID:0090040 {source="MONDO:equivalentTo"} xref: GARD:7782 {source="MONDO:GARD"} xref: MEDGEN:355560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -252331,8 +252372,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011201 name: tremor, hereditary essential, 2 -synonym: "essential tremor, hereditary, 2" EXACT [OMIM:602134, OMIM:genemap2] -synonym: "ETM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602134] +synonym: "essential tremor, hereditary, 2" EXACT [] +synonym: "ETM2" EXACT ABBREVIATION [DOID:0111429, MONDO:Lexical, OMIM:602134] synonym: "tremor hereditary essential, 2" RELATED [GARD:0009500] synonym: "tremor, hereditary essential, 2" EXACT [MONDO:Lexical, OMIM:602134] xref: DOID:0111429 {source="MONDO:equivalentTo"} @@ -252356,10 +252397,10 @@ subset: ordo_disorder {source="Orphanet:140976"} subset: orphanet_rare {source="Orphanet:140976"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "retinitis pigmentosa syndrome" RELATED [OMIM:602152] -synonym: "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia" RELATED [OMIM:602152] +synonym: "retinitis pigmentosa syndrome" RELATED [] +synonym: "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia" RELATED [] synonym: "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome" EXACT [Orphanet:140976] -synonym: "RHYNS syndrome" EXACT [OMIM:602152] +synonym: "RHYNS syndrome" EXACT [OMIM:602152, Orphanet:140976] xref: GARD:9681 {source="MONDO:GARD"} xref: MEDGEN:356371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537612 {source="Orphanet:140976/e", source="MONDO:equivalentTo", source="Orphanet:140976"} @@ -252382,9 +252423,9 @@ id: MONDO:0011203 name: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies subset: gard_rare {source="GARD:10090", source="MONDO:GARD"} subset: rare -synonym: "campomelic dysplasia, mild" RELATED [OMIM:602196] +synonym: "campomelic dysplasia, mild" RELATED [] synonym: "Pierre Robin sequence with pectus excavatum and rib and scapular anomalies" EXACT [OMIM:602196] -synonym: "skeletal dysplasia related to campomelic dysplasia" RELATED [OMIM:602196] +synonym: "skeletal dysplasia related to campomelic dysplasia" RELATED [] xref: GARD:10090 {source="MONDO:GARD"} xref: MEDGEN:355549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535775 {source="MONDO:equivalentTo"} @@ -252400,9 +252441,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10090/pierre id: MONDO:0011204 name: obsolete cerebellar degeneration-related autoantigen 3 comment: This is not a disease. -synonym: "Cdr3" RELATED [OMIM:602197] -synonym: "cerebellar degeneration-related autoantigen 3" EXACT [OMIM:602197] -synonym: "cerebellar Degeneration-related autoantigen type 3" EXACT [MONDORULE:1, OMIM:602197] +synonym: "Cdr3" RELATED [] +synonym: "cerebellar degeneration-related autoantigen 3" EXACT [] +synonym: "cerebellar Degeneration-related autoantigen type 3" EXACT [MONDORULE:1] xref: OMIM:602197 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2522" xsd:anyURI is_obsolete: true @@ -252410,7 +252451,7 @@ is_obsolete: true [Term] id: MONDO:0011205 name: medium chain 3-ketoacyl-Coa thiolase deficiency -synonym: "Mckat deficiency" RELATED [OMIM:602199] +synonym: "Mckat deficiency" RELATED [] synonym: "medium chain 3-ketoacyl-Coa thiolase deficiency" EXACT [OMIM:602199] synonym: "medium-chain 3-ketoacyl-coa thiolase deficiency" RELATED [GARD:0010329] xref: MEDGEN:356367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -252454,17 +252495,17 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:679"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atrophic papulosis, malignant" RELATED [GARD:0006249] -synonym: "Degos Disease" EXACT [NORD:1036] -synonym: "Degos disease" EXACT [OMIM:602248, Orphanet:679] +synonym: "Degos Disease" EXACT [icd11.foundation:792094526, NCIT:C84835, NORD:1036, OMIM:602248] +synonym: "Degos disease" EXACT [icd11.foundation:792094526, NCIT:C84835, OMIM:602248] synonym: "Degos syndrome" RELATED [GARD:0006249] synonym: "Degos's malignant atrophic papulosis" RELATED [GARD:0006249] -synonym: "Kohlmeier-Degos disease" EXACT [GARD:0006249, Orphanet:679] -synonym: "Kohlmeier-Degos-Delort-Tricort syndrome" EXACT [Orphanet:679] -synonym: "Köhlmeier-Degos disease" EXACT [Orphanet:679] -synonym: "Köhlmeier-Degos-Delort-Tricort syndrome" EXACT [Orphanet:679] -synonym: "malignant atrophic papulosis" EXACT [OMIM:602248] -synonym: "papulosis atrophican maligna" EXACT [Orphanet:679] -synonym: "papulosis, malignant atrophic" RELATED [OMIM:602248] +synonym: "Kohlmeier-Degos disease" EXACT [GARD:0006249] +synonym: "Kohlmeier-Degos-Delort-Tricort syndrome" EXACT [] +synonym: "Köhlmeier-Degos disease" EXACT [] +synonym: "Köhlmeier-Degos-Delort-Tricort syndrome" EXACT [] +synonym: "malignant atrophic papulosis" EXACT [icd11.foundation:792094526, NCIT:C84835, OMIM:602248, Orphanet:679] +synonym: "papulosis atrophican maligna" EXACT [] +synonym: "papulosis, malignant atrophic" RELATED [] xref: GARD:6249 {source="MONDO:GARD"} xref: ICD10CM:I77.8 {source="Orphanet:679/ntbt", source="Orphanet:679", source="Orphanet:679/index"} xref: icd11.foundation:792094526 {source="MONDO:equivalentTo"} @@ -252510,12 +252551,12 @@ subset: ordo_disorder {source="Orphanet:168549"} subset: orphanet_rare {source="Orphanet:168549"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "axial SmD" RELATED [OMIM:602271] +synonym: "axial SmD" RELATED [] synonym: "SmD axial" RELATED [GARD:0008720] -synonym: "SmD, axial" RELATED [OMIM:602271] -synonym: "SMDAX" RELATED ABBREVIATION [OMIM:602271] +synonym: "SmD, axial" RELATED [] +synonym: "SMDAX" RELATED ABBREVIATION [] synonym: "spondylometaphyseal dysplasia axial type" RELATED [GARD:0008720] -synonym: "spondylometaphyseal dysplasia, axial" RELATED [OMIM:602271] +synonym: "spondylometaphyseal dysplasia, axial" RELATED [] xref: DOID:0112299 {source="MONDO:equivalentTo"} xref: GARD:8720 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:168549", source="Orphanet:168549/attributed", source="Orphanet:168549/ntbt"} @@ -252554,12 +252595,12 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:487825"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PIERPONT syndrome" RELATED [OMIM:602342] -synonym: "Pierpont syndrome" EXACT [OMIM:602342] -synonym: "plantar lipomatosis, unusual facies, and developmental delay" RELATED [OMIM:602342] -synonym: "plantar lipomatosis-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:487825] -synonym: "plantar lipomatosis-unusual facies-developmental delay syndrome" EXACT [Orphanet:487825] -synonym: "PRPTS" RELATED ABBREVIATION [OMIM:602342] +synonym: "PIERPONT syndrome" RELATED [] +synonym: "Pierpont syndrome" EXACT [DOID:0081362, OMIM:602342, Orphanet:487825] +synonym: "plantar lipomatosis, unusual facies, and developmental delay" RELATED [] +synonym: "plantar lipomatosis-facial dysmorphism-developmental delay syndrome" EXACT [DOID:0081362, Orphanet:487825] +synonym: "plantar lipomatosis-unusual facies-developmental delay syndrome" EXACT [DOID:0081362, Orphanet:487825] +synonym: "PRPTS" RELATED ABBREVIATION [] xref: DOID:0081362 {source="MONDO:equivalentTo"} xref: GARD:17885 {source="MONDO:GARD"} xref: MEDGEN:356049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -252585,13 +252626,13 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:79305"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABCB4 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cholestasis, progressive familial intrahepatic 3" EXACT [OMIM:602347, OMIM:genemap2] -synonym: "cholestasis, progressive familial intrahepatic, 3" RELATED [MONDO:Lexical, OMIM:602347] -synonym: "cholestasis, progressive familial intrahepatic, type 3" EXACT [MONDORULE:1, OMIM:602347] -synonym: "cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase" RELATED [OMIM:602347] -synonym: "MDR3 Deficiency" EXACT [NORD:1416] -synonym: "Mdr3 deficiency" RELATED [OMIM:602347] -synonym: "PFIC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602347, Orphanet:79305] +synonym: "cholestasis, progressive familial intrahepatic 3" EXACT [] +synonym: "cholestasis, progressive familial intrahepatic, 3" RELATED [MONDO:Lexical] +synonym: "cholestasis, progressive familial intrahepatic, type 3" EXACT [MONDORULE:1] +synonym: "cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase" RELATED [] +synonym: "MDR3 Deficiency" EXACT [DOID:0070223, NORD:1416, OMIM:602347] +synonym: "Mdr3 deficiency" RELATED [] +synonym: "PFIC3" EXACT ABBREVIATION [DOID:0070223, MONDO:Lexical, OMIM:602347, Orphanet:79305] synonym: "progressive familial intrahepatic cholestasis caused by mutation in ABCB4" EXACT [MONDO:design_pattern] synonym: "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase" RELATED [GARD:0001289] xref: DOID:0070223 {source="MONDO:equivalentTo"} @@ -252625,13 +252666,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:2763"} subset: orphanet_rare {source="Orphanet:2763"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GCLEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602361] +synonym: "GCLEB" RELATED ABBREVIATION [MONDO:Lexical] synonym: "gracile bone dysplasia" EXACT [MONDO:Lexical, OMIM:602361, Orphanet:2763] -synonym: "Habrodysplasia" RELATED [OMIM:602361] +synonym: "Habrodysplasia" RELATED [] synonym: "Osteocraniosplenic syndrome" EXACT [OMIM:602361, Orphanet:2763] -synonym: "osteocraniostenosis" EXACT [OMIM:602361] +synonym: "osteocraniostenosis" EXACT [icd11.foundation:539409723, OMIM:602361, Orphanet:2763] synonym: "skeletal dysplasia lethal with gracile bones" RELATED [GARD:0003396] -synonym: "skeletal dysplasia, lethal, with gracile bones" RELATED [OMIM:602361] +synonym: "skeletal dysplasia, lethal, with gracile bones" RELATED [] xref: GARD:3396 {source="MONDO:GARD"} xref: ICD10CM:Q78.0 {source="Orphanet:2763/attributed", source="Orphanet:2763/ntbt", source="MONDO:relatedTo", source="Orphanet:2763"} xref: icd11.foundation:539409723 {source="MONDO:equivalentTo"} @@ -252654,10 +252695,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hemochromatosis type 2 caused by mutation in HJV" EXACT [MONDO:design_pattern] -synonym: "hemochromatosis type 2A" EXACT CLINGEN_LABEL [] -synonym: "hemochromatosis, juvenile" RELATED [OMIM:602390] -synonym: "hemochromatosis, type 2" RELATED [OMIM:602390] -synonym: "hemochromatosis, type 2A" RELATED [MONDO:Lexical, OMIM:602390] +synonym: "hemochromatosis type 2A" EXACT CLINGEN_LABEL [DOID:0111027] +synonym: "hemochromatosis, juvenile" RELATED [] +synonym: "hemochromatosis, type 2" RELATED [] +synonym: "hemochromatosis, type 2A" RELATED [MONDO:Lexical] synonym: "HFE2A" EXACT ABBREVIATION [DOID:0111027, MONDO:Lexical, OMIM:602390] synonym: "HJV hemochromatosis type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111027 {source="MONDO:equivalentTo"} @@ -252681,7 +252722,7 @@ subset: ordo_disorder {source="Orphanet:35107"} subset: orphanet_rare {source="Orphanet:35107"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "desmosterolosis" EXACT [OMIM:602398] +synonym: "desmosterolosis" EXACT [icd11.foundation:2108931494, OMIM:602398, Orphanet:35107] xref: GARD:10283 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:35107/attributed", source="Orphanet:35107/ntbt", source="Orphanet:35107"} xref: icd11.foundation:2108931494 {source="MONDO:equivalentTo"} @@ -252708,19 +252749,19 @@ subset: ordo_disorder {source="Orphanet:91132"} subset: orphanet_rare {source="Orphanet:91132"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ARCI11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602400] +synonym: "ARCI11" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ARIH" RELATED ABBREVIATION [GARD:0010116] -synonym: "autosomal recessive congenital ichthyosis 11" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive congenital ichthyosis type 11" EXACT [DOID:0060720, MONDORULE:2] +synonym: "autosomal recessive congenital ichthyosis 11" EXACT CLINGEN_LABEL [DOID:0060720] +synonym: "autosomal recessive congenital ichthyosis type 11" EXACT [MONDORULE:2] synonym: "autosomal recessive ichthyosis with hypotrichosis" EXACT [DOID:0060720] synonym: "hypotrichosis-congenital ichthyosis syndrome" EXACT [DOID:0060720, Orphanet:91132] synonym: "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" EXACT [DOID:0060720, OMIM:602400] -synonym: "ichthyosis with hypotrichosis, autosomal recessive" RELATED [OMIM:602400] -synonym: "ichthyosis, congenital, autosomal recessive 11" RELATED [MONDO:Lexical, OMIM:602400] -synonym: "ichthyosis, congenital, autosomal recessive type 11" EXACT [MONDORULE:2, OMIM:602400] +synonym: "ichthyosis with hypotrichosis, autosomal recessive" RELATED [] +synonym: "ichthyosis, congenital, autosomal recessive 11" RELATED [MONDO:Lexical] +synonym: "ichthyosis, congenital, autosomal recessive type 11" EXACT [MONDORULE:2] synonym: "ichthyosis-follicular atrophoderma-hypotrichosis syndrome" EXACT [DOID:0060720, Orphanet:91132] synonym: "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome" EXACT [DOID:0060720, Orphanet:91132] -synonym: "ichthyosis-hypotrichosis syndrome" EXACT [DOID:0060720] +synonym: "ichthyosis-hypotrichosis syndrome" EXACT [DOID:0060720, Orphanet:91132] synonym: "IFAH syndrome" EXACT [DOID:0060720, Orphanet:91132] synonym: "IHS" EXACT ABBREVIATION [DOID:0060720, Orphanet:91132] xref: DOID:0060720 {source="MONDO:equivalentTo"} @@ -252747,8 +252788,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:99672"} subset: orphanet_rare {source="Orphanet:99672"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ECTD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602401] -synonym: "ectodermal dysplasia 8, hair/tooth/nail type" RELATED [MONDO:Lexical, OMIM:602401] +synonym: "ECTD8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ectodermal dysplasia 8, hair/tooth/nail type" RELATED [MONDO:Lexical] xref: DOID:0111661 {source="MONDO:equivalentTo"} xref: GARD:16903 {source="MONDO:GARD"} xref: MEDGEN:764338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -252764,10 +252805,10 @@ name: parkinson disease 3, autosomal dominant subset: gard_rare {source="GARD:8578", source="MONDO:GARD"} subset: rare synonym: "autosomal dominant Parkinson disease" RELATED [GARD:0008578] -synonym: "PARK3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602404] -synonym: "Parkinson disease 3" EXACT [OMIM:602404, OMIM:genemap2] -synonym: "Parkinson disease 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:602404] -synonym: "Parkinson disease 3, autosomal dominant Lewy body" RELATED [OMIM:602404] +synonym: "PARK3" EXACT ABBREVIATION [DOID:0111250, MONDO:Lexical, OMIM:602404] +synonym: "Parkinson disease 3" EXACT [DOID:0111250] +synonym: "Parkinson disease 3, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "Parkinson disease 3, autosomal dominant Lewy body" RELATED [] synonym: "Parkinson disease type 3" RELATED [GARD:0008578] xref: DOID:0111250 {source="MONDO:equivalentTo"} xref: GARD:8578 {source="MONDO:GARD"} @@ -252794,10 +252835,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10178/weyers [Term] id: MONDO:0011222 name: obsolete glaucoma 1, open angle, D -synonym: "glaucoma 1, open angle, D" EXACT [MONDO:Lexical, OMIM:602429] -synonym: "glaucoma 1D, primary open angle" EXACT [OMIM:602429, OMIM:genemap2] -synonym: "glaucoma, primary open angle, adult-onset" RELATED [OMIM:602429] -synonym: "GLC1D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602429] +synonym: "glaucoma 1, open angle, D" EXACT [MONDO:Lexical] +synonym: "glaucoma 1D, primary open angle" EXACT [] +synonym: "glaucoma, primary open angle, adult-onset" RELATED [] +synonym: "GLC1D" EXACT ABBREVIATION [MONDO:Lexical] xref: MESH:C566551 {source="MONDO:obsoleteEquivalent"} xref: OMIM:602429 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"} @@ -252815,15 +252856,15 @@ subset: ordo_disorder {source="Orphanet:357043"} subset: orphanet_rare {source="Orphanet:357043"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALS 4" EXACT [DOID:0060196, OMIM:602433] -synonym: "ALS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602433, Orphanet:357043] -synonym: "amyotrophic lateral sclerosis 4" EXACT [DOID:0060196, OMIM:602433] +synonym: "ALS 4" EXACT [] +synonym: "ALS4" EXACT ABBREVIATION [DOID:0060196, MONDO:Lexical, OMIM:602433, Orphanet:357043] +synonym: "amyotrophic lateral sclerosis 4" EXACT [DOID:0060196] synonym: "amyotrophic lateral sclerosis 4, juvenile" EXACT [DOID:0060196, MONDO:Lexical, OMIM:602433] synonym: "amyotrophic lateral sclerosis caused by mutation in SETX" EXACT [MONDO:design_pattern] synonym: "dHMN with upper motor neuron signs" EXACT [DOID:0060196, Orphanet:357043] -synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [DOID:0060196, OMIM:602433] +synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [DOID:0060196] synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [DOID:0060196, Orphanet:357043] -synonym: "neuronopathy, distal hereditary motor, with pyramidal features" RELATED [OMIM:602433] +synonym: "neuronopathy, distal hereditary motor, with pyramidal features" RELATED [] synonym: "SETX amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060196 {source="MONDO:equivalentTo"} xref: GARD:10502 {source="MONDO:GARD"} @@ -252850,14 +252891,14 @@ subset: ordo_disorder {source="Orphanet:65684"} subset: orphanet_rare {source="Orphanet:65684"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amyotrophy, monomelic" RELATED [OMIM:602440] +synonym: "amyotrophy, monomelic" RELATED [] synonym: "benign focal amyotrophy" EXACT [Orphanet:65684] synonym: "Hirayama disease" EXACT [OMIM:602440, Orphanet:65684] synonym: "JMADUE" EXACT ABBREVIATION [Orphanet:65684] synonym: "juvenile muscular atrophy of distal upper extremity" EXACT [Orphanet:65684] synonym: "juvenile muscular atrophy of the distal upper limb" EXACT [Orphanet:65684] synonym: "spinal muscular atrophy juvenile nonprogressive" RELATED [GARD:0009697] -synonym: "spinal muscular atrophy, juvenile, nonprogressive" RELATED [OMIM:602440] +synonym: "spinal muscular atrophy, juvenile, nonprogressive" RELATED [] xref: EFO:1001989 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9697 {source="MONDO:GARD"} xref: ICD10CM:G12.8 {source="Orphanet:65684/ntbt", source="Orphanet:65684"} @@ -252882,27 +252923,27 @@ subset: ordo_disorder {source="Orphanet:275"} subset: orphanet_rare {source="Orphanet:275"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "artemis deficiency" RELATED [DOID:0060006] -synonym: "Athabaskan Severe combined immunodeficiency" RELATED [OMIM:602450] +synonym: "artemis deficiency" RELATED [] +synonym: "Athabaskan Severe combined immunodeficiency" RELATED [] synonym: "DCLRE1C severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "RS-SCID" RELATED [OMIM:602450] -synonym: "SCID due to ARTEMIS deficiency" EXACT [Orphanet:275] -synonym: "SCID due to artemis deficiency" EXACT [DOID:0090012] +synonym: "RS-SCID" RELATED [] +synonym: "SCID due to ARTEMIS deficiency" EXACT [DOID:0090012, Orphanet:275] +synonym: "SCID due to artemis deficiency" EXACT [DOID:0090012, Orphanet:275] synonym: "SCID due to DCLRE1C deficiency" EXACT [DOID:0090012, Orphanet:275] synonym: "SCID, Athabascan type" EXACT [DOID:0090012, Orphanet:275] synonym: "SCID, Athabaskan type" EXACT [DOID:0090012, Orphanet:275] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiation" RELATED OMO:0003005 [] -synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" RELATED [OMIM:602450] +synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" RELATED [] synonym: "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C" EXACT [] -synonym: "severe combined immunodeficiency due to ARTEMIS deficiency" EXACT [Orphanet:275] -synonym: "severe combined immunodeficiency due to artemis deficiency" EXACT [DOID:0090012, MONDO:0000570] -synonym: "severe combined immunodeficiency due to DCLRE1C deficiency" EXACT CLINGEN_LABEL [DOID:0090012] +synonym: "severe combined immunodeficiency due to ARTEMIS deficiency" EXACT [DOID:0090012, Orphanet:275] +synonym: "severe combined immunodeficiency due to artemis deficiency" EXACT [DOID:0090012, MONDO:0000570, Orphanet:275] +synonym: "severe combined immunodeficiency due to DCLRE1C deficiency" EXACT CLINGEN_LABEL [DOID:0090012, Orphanet:275] synonym: "severe combined immunodeficiency with sensitivity to ionising radiation" RELATED OMO:0003005 [] -synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation" RELATED [OMIM:602450] -synonym: "severe combined immunodeficiency, Athabascan type" RELATED [DOID:0090012, Orphanet:275] -synonym: "severe combined immunodeficiency, Athabaskan type" RELATED [DOID:0090012, Orphanet:275] -synonym: "severe combined immunodeficiency, Athabaskan-type" RELATED [OMIM:602450] -synonym: "severe combined immunodeficiency, partial" RELATED [OMIM:602450] +synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation" RELATED [] +synonym: "severe combined immunodeficiency, Athabascan type" RELATED [] +synonym: "severe combined immunodeficiency, Athabaskan type" RELATED [] +synonym: "severe combined immunodeficiency, Athabaskan-type" RELATED [] +synonym: "severe combined immunodeficiency, partial" RELATED [] xref: DOID:0060006 {source="MONDO:equivalentObsolete"} xref: DOID:0090012 {source="MONDO:equivalentTo"} xref: GARD:9987 {source="MONDO:GARD"} @@ -252929,13 +252970,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18109", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 15" NARROW [DOID:0110546] -synonym: "autosomal dominant nonsyndromic deafness 15" NARROW [OMIM:602459] +synonym: "autosomal dominant deafness 15" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 15" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in POU4F3" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 15" NARROW [DOID:0110546, MONDORULE:2] -synonym: "deafness, autosomal dominant 15" NARROW [MONDO:Lexical, OMIM:602459, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 15" NARROW [MONDORULE:2, OMIM:602459] -synonym: "DFNA15" NARROW ABBREVIATION [DOID:0110546, MONDO:Lexical, OMIM:602459] +synonym: "autosomal dominant nonsyndromic deafness type 15" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 15" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 15" NARROW [MONDORULE:2] +synonym: "DFNA15" NARROW ABBREVIATION [MONDO:Lexical] synonym: "POU4F3 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110546 {source="MONDO:equivalentTo"} xref: GARD:18109 {source="MONDO:GARD"} @@ -252961,10 +253002,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:397623"} subset: orphanet_rare {source="Orphanet:397623"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SAMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602471] +synonym: "SAMS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SAMS syndrome" EXACT [Orphanet:397623] -synonym: "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" RELATED [MONDO:Lexical, OMIM:602471] -synonym: "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities" EXACT [OMIM:602471, OMIM:genemap2] +synonym: "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" RELATED [MONDO:Lexical] +synonym: "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities" EXACT [] xref: GARD:17633 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:397623", source="Orphanet:397623/attributed", source="Orphanet:397623/ntbt"} xref: MEDGEN:355971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -253002,9 +253043,9 @@ subset: ordo_disorder {source="Orphanet:51188"} subset: orphanet_rare {source="Orphanet:51188"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602473] +synonym: "EE" RELATED ABBREVIATION [MONDO:Lexical] synonym: "eme" RELATED [GARD:0002198] -synonym: "encephalopathy, ethylmalonic" RELATED [GARD:0002198, MONDO:Lexical, OMIM:602473] +synonym: "encephalopathy, ethylmalonic" RELATED [GARD:0002198, MONDO:Lexical] synonym: "encephalopathy, petechiae, and ethylmalonic aciduria" RELATED [GARD:0002198] synonym: "EPEMA syndrome" RELATED [GARD:0002198] synonym: "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria" RELATED [GARD:0002198] @@ -253031,7 +253072,7 @@ def: "A disorder characterized by benign depositions of calcium in the posterior subset: otar {source="MONDO:OTAR"} synonym: "OPLL" EXACT ABBREVIATION [DOID:0060887, MONDO:Lexical, OMIM:602475] synonym: "ossification of Posterior longitudinal ligament" EXACT [NCIT:C84975] -synonym: "ossification of the POSTERIOR longitudinal ligament of spine" RELATED [MONDO:Lexical, OMIM:602475] +synonym: "ossification of the POSTERIOR longitudinal ligament of spine" RELATED [MONDO:Lexical] xref: DOID:0060887 {source="MONDO:equivalentTo"} xref: EFO:0005895 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:355447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -253049,11 +253090,11 @@ is_a: MONDO:0005172 {source="EFO:0005895"} ! skeletal system disorder id: MONDO:0011231 name: febrile seizures, familial, 2 subset: otar {source="MONDO:OTAR"} -synonym: "convulsions, familial febrile, 2" RELATED [OMIM:602477] -synonym: "FEB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602477] -synonym: "febrile seizures, familial, 2" EXACT [MONDO:Lexical, OMIM:602477] +synonym: "convulsions, familial febrile, 2" RELATED [] +synonym: "FEB2" EXACT ABBREVIATION [DOID:0111310, MONDO:Lexical] +synonym: "febrile seizures, familial, 2" EXACT [MONDO:Lexical] synonym: "generalised epilepsy with febrile seizures plus, type 11" EXACT OMO:0003005 [] -synonym: "generalized epilepsy with febrile seizures plus, type 11" EXACT [OMIM:602477, OMIM:genemap2] +synonym: "generalized epilepsy with febrile seizures plus, type 11" EXACT [] xref: DOID:0111310 {source="MONDO:equivalentTo"} xref: MEDGEN:355446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566541 {source="MONDO:equivalentTo"} @@ -253075,12 +253116,12 @@ subset: rare synonym: "ATP1A2 familial or sporadic hemiplegic migraine" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial hemiplegic migraine type 2" RELATED [GARD:0010095] synonym: "familial or sporadic hemiplegic migraine caused by mutation in ATP1A2" EXACT [MONDO:design_pattern] -synonym: "FHM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602481] +synonym: "FHM2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hemiplegic migraine, familial type 2" RELATED [GARD:0010095] -synonym: "Mhp2" RELATED [OMIM:602481] -synonym: "migraine, familial basilar" RELATED [OMIM:602481] +synonym: "Mhp2" RELATED [] +synonym: "migraine, familial basilar" RELATED [] synonym: "migraine, familial hemiplegic, 2" EXACT [MONDO:Lexical, OMIM:602481] -synonym: "migraine, familial hemiplegic, type 2" EXACT [MONDORULE:1, OMIM:602481] +synonym: "migraine, familial hemiplegic, type 2" EXACT [MONDORULE:1] xref: DOID:0111182 {source="MONDO:equivalentTo"} xref: GARD:10095 {source="MONDO:GARD"} xref: MEDGEN:355962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -253099,22 +253140,22 @@ def: "Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutati subset: gard_rare {source="GARD:9626", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anterior chamber Cleavage syndrome" RELATED [OMIM:602482] -synonym: "anterior chamber cleavage syndrome" EXACT [DOID:0110122] -synonym: "anterior segment mesenchymal dysgenesis" RELATED [DOID:0110122, OMIM:602482] -synonym: "Axenfeld anomaly" RELATED [OMIM:602482] -synonym: "Axenfeld-Rieger anomaly" RELATED [OMIM:602482] -synonym: "Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss" RELATED [OMIM:602482] -synonym: "Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss" RELATED [OMIM:602482] +synonym: "anterior chamber Cleavage syndrome" RELATED [] +synonym: "anterior chamber cleavage syndrome" EXACT [DOID:0110122, OMIM:602482] +synonym: "anterior segment mesenchymal dysgenesis" RELATED [] +synonym: "Axenfeld anomaly" RELATED [] +synonym: "Axenfeld-Rieger anomaly" RELATED [] +synonym: "Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss" RELATED [] +synonym: "Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss" RELATED [] synonym: "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss" EXACT [DOID:0110122] synonym: "Axenfeld-Rieger syndrome caused by mutation in FOXC1" EXACT [MONDO:design_pattern] -synonym: "Axenfeld-Rieger syndrome type 3" EXACT CLINGEN_LABEL [] -synonym: "Axenfeld-Rieger syndrome, type 3" RELATED [MONDO:Lexical, OMIM:602482] +synonym: "Axenfeld-Rieger syndrome type 3" EXACT CLINGEN_LABEL [DOID:0110122] +synonym: "Axenfeld-Rieger syndrome, type 3" RELATED [MONDO:Lexical] synonym: "FOXC1 Axenfeld-Rieger syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RIEG3" EXACT ABBREVIATION [DOID:0110122, MONDO:Lexical, OMIM:602482] -synonym: "Rieger anomaly" RELATED [OMIM:602482] +synonym: "Rieger anomaly" RELATED [] synonym: "Rieger syndrome type 3" EXACT [DOID:0110122] -synonym: "Rieger syndrome, type 3" RELATED [OMIM:602482] +synonym: "Rieger syndrome, type 3" RELATED [] xref: DOID:0110122 {source="MONDO:equivalentTo"} xref: GARD:9626 {source="MONDO:GARD"} xref: ICD10CM:Q13.8 {source="DOID:0110122"} @@ -253140,13 +253181,13 @@ def: "Any auriculocondylar syndrome in which the cause of the disease is a mutat subset: gard_rare {source="GARD:15346", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ARCND1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602483] -synonym: "AURICULOCONDYLAR syndrome 1" RELATED [OMIM:602483] +synonym: "ARCND1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "AURICULOCONDYLAR syndrome 1" RELATED [] synonym: "Auriculocondylar syndrome 1" EXACT [MONDO:Lexical, OMIM:602483] synonym: "auriculocondylar syndrome caused by mutation in GNAI3" EXACT [MONDO:design_pattern] -synonym: "Auriculocondylar syndrome type 1" EXACT [MONDORULE:1, OMIM:602483] +synonym: "Auriculocondylar syndrome type 1" EXACT [MONDORULE:1] synonym: "GNAI3 auriculocondylar syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "question Mark ears syndrome" RELATED [OMIM:602483] +synonym: "question Mark ears syndrome" RELATED [] xref: GARD:15346 {source="MONDO:GARD"} xref: MEDGEN:1639644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:602483 {source="MONDO:equivalentTo"} @@ -253171,7 +253212,7 @@ subset: rare synonym: "pelvic dysplasia arthrogryposis of lower limbs" RELATED [GARD:0004269] synonym: "pelvic hypoplasia with arthrogryposis of lower limbs" RELATED [GARD:0004269] synonym: "pelvic hypoplasia with lower limb arthrogryposis" RELATED [GARD:0004269] -synonym: "pelvic hypoplasia with LOWER-limb arthrogryposis" RELATED [OMIM:602484] +synonym: "pelvic hypoplasia with LOWER-limb arthrogryposis" RELATED [] synonym: "Ray-Peterson-Scott syndrome" EXACT [Orphanet:2840] xref: GARD:4269 {source="MONDO:GARD"} xref: MEDGEN:400731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -253198,11 +253239,11 @@ subset: ordo_disorder {source="Orphanet:79299"} subset: orphanet_rare {source="Orphanet:79299"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HHF3" RELATED ABBREVIATION [GARD:0009930, MONDO:Lexical, OMIM:602485] -synonym: "hyperinsulinemic hypoglycemia due to glucokinase deficiency" EXACT [Orphanet:79299] +synonym: "HHF3" RELATED ABBREVIATION [GARD:0009930, MONDO:Lexical] +synonym: "hyperinsulinemic hypoglycemia due to glucokinase deficiency" EXACT [DOID:0070216] synonym: "hyperinsulinemic hypoglycemia familial 3" RELATED [GARD:0009930] -synonym: "hyperinsulinemic hypoglycemia, familial, 3" RELATED [MONDO:Lexical, OMIM:602485] -synonym: "hyperinsulinemic hypoglycemia, familial, type 3" EXACT [MONDORULE:1, OMIM:602485] +synonym: "hyperinsulinemic hypoglycemia, familial, 3" RELATED [MONDO:Lexical] +synonym: "hyperinsulinemic hypoglycemia, familial, type 3" EXACT [MONDORULE:1] xref: DOID:0070216 {source="MONDO:equivalentTo"} xref: GARD:2818 {source="MONDO:GARD"} xref: ICD10CM:E16.1 {source="Orphanet:79299/attributed", source="Orphanet:79299/ntbt", source="Orphanet:79299"} @@ -253225,10 +253266,10 @@ name: hyperlipidemia, combined, 1 def: "An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] synonym: "familial combined hyperlipidemia caused by mutation in USF1" EXACT [MONDO:design_pattern] synonym: "hyperlipidemia, combined, 1" EXACT [OMIM:602491] -synonym: "hyperlipidemia, combined, type 1" EXACT [MONDORULE:1, OMIM:602491] -synonym: "hyperlipidemia, familial combined, 1" RELATED [OMIM:602491] -synonym: "hyperlipidemia, familial combined, susceptibility to" EXACT [OMIM:602491, OMIM:genemap2] -synonym: "hyplip1" RELATED [OMIM:602491] +synonym: "hyperlipidemia, combined, type 1" EXACT [MONDORULE:1] +synonym: "hyperlipidemia, familial combined, 1" RELATED [] +synonym: "hyperlipidemia, familial combined, susceptibility to" EXACT [] +synonym: "hyplip1" RELATED [] synonym: "USF1 familial combined hyperlipidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:355434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566535 {source="MONDO:equivalentTo"} @@ -253249,7 +253290,7 @@ subset: gard_rare {source="GARD:15347", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brachytelephalangic chondrodysplasia punctata" RELATED [OMIM:602497] +synonym: "brachytelephalangic chondrodysplasia punctata" RELATED [] synonym: "chondrodysplasia punctata, brachytelephalangic, autosomal" EXACT [OMIM:602497] xref: GARD:15347 {source="MONDO:GARD"} xref: MEDGEN:337102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -253265,9 +253306,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:468672"} subset: orphanet_rare {source="Orphanet:468672"} subset: rare -synonym: "MACOM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602499] +synonym: "MACOM" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MACOM syndrome" EXACT [Orphanet:468672] -synonym: "macrophthalmia, colobomatous, with microcornea" RELATED [MONDO:Lexical, OMIM:602499] +synonym: "macrophthalmia, colobomatous, with microcornea" RELATED [MONDO:Lexical] xref: GARD:17844 {source="MONDO:GARD"} xref: MEDGEN:400728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566533 {source="MONDO:equivalentTo"} @@ -253293,9 +253334,9 @@ subset: rare synonym: "M-CM" RELATED [GARD:0006950] synonym: "M-CMTC" RELATED [GARD:0006950] synonym: "macrocephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950] -synonym: "macrocephaly-capillary malformation" RELATED [OMIM:602501] +synonym: "macrocephaly-capillary malformation" RELATED [] synonym: "macrocephaly-capillary malformation syndrome" EXACT [Orphanet:60040] -synonym: "macrocephaly-cutis marmorata telangiectatica congenita" RELATED [OMIM:602501] +synonym: "macrocephaly-cutis marmorata telangiectatica congenita" RELATED [] synonym: "macrocephaly-cutis marmorata telangiectatica congenita syndrome" EXACT [Orphanet:60040] synonym: "MCAP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602501, Orphanet:60040] synonym: "MCM" EXACT ABBREVIATION [Orphanet:60040] @@ -253303,9 +253344,9 @@ synonym: "MCMTC" EXACT ABBREVIATION [Orphanet:60040] synonym: "megalencephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950] synonym: "Megalencephaly-Capillary Malformation" EXACT [NORD:1423] synonym: "megalencephaly-capillary malformation syndrome" EXACT [OMIM:602501, Orphanet:60040] -synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome" EXACT [MONDO:Lexical, OMIM:602501] -synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic" EXACT [OMIM:602501, OMIM:genemap2] -synonym: "megalencephaly-cutis marmorata telangiectatica congenita" RELATED [OMIM:602501] +synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome" EXACT [MONDO:Lexical, OMIM:602501, Orphanet:60040] +synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic" EXACT [] +synonym: "megalencephaly-cutis marmorata telangiectatica congenita" RELATED [] synonym: "megalencephaly-cutis marmorata telangiectatica congenita syndrome" EXACT [Orphanet:60040] synonym: "megalocephaly cutis marmorata telangiectatica congenita" RELATED [GARD:0006950] xref: GARD:6950 {source="MONDO:GARD"} @@ -253349,18 +253390,18 @@ subset: gard_rare {source="GARD:15348", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BARTS4A" EXACT ABBREVIATION [DOID:0110145] -synonym: "Bartter disease type 4a" EXACT CLINGEN_LABEL [] +synonym: "BARTS4A" EXACT ABBREVIATION [DOID:0110145, OMIM:602522] +synonym: "Bartter disease type 4a" EXACT CLINGEN_LABEL [DOID:0110145] synonym: "Bartter syndrome caused by mutation in BSND" EXACT [MONDO:design_pattern] synonym: "Bartter syndrome type 4a" EXACT [DOID:0110145] -synonym: "Bartter syndrome, infantile, with sensorineural deafness" RELATED [OMIM:602522] -synonym: "Bartter syndrome, neonatal, with sensorineural deafness" RELATED [OMIM:602522] -synonym: "Bartter syndrome, type 4A" RELATED [OMIM:602522] -synonym: "Bartter syndrome, type 4A, neonatal, with sensorineural deafness" RELATED [OMIM:602522] +synonym: "Bartter syndrome, infantile, with sensorineural deafness" RELATED [] +synonym: "Bartter syndrome, neonatal, with sensorineural deafness" RELATED [] +synonym: "Bartter syndrome, type 4A" RELATED [] +synonym: "Bartter syndrome, type 4A, neonatal, with sensorineural deafness" RELATED [] synonym: "BSND" EXACT ABBREVIATION [DOID:0110145] synonym: "BSND Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neonatal Bartter syndrome with sensorineural deafness" EXACT [DOID:0110145] -synonym: "sensorineural deafness with mild renal dysfunction" RELATED [OMIM:602522] +synonym: "sensorineural deafness with mild renal dysfunction" RELATED [] xref: DOID:0110145 {source="MONDO:equivalentTo"} xref: GARD:15348 {source="MONDO:GARD"} xref: ICD10CM:E26.8 {source="DOID:0110145"} @@ -253388,10 +253429,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:79094"} subset: orphanet_rare {source="Orphanet:79094"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly" RELATED [OMIM:602531] +synonym: "arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly" RELATED [] synonym: "grange occlusive arterial syndrome" EXACT [OMIM:602531, Orphanet:79094] -synonym: "grange syndrome" EXACT [OMIM:602531] -synonym: "GRNG" RELATED ABBREVIATION [OMIM:602531] +synonym: "grange syndrome" EXACT [icd11.foundation:729368905, OMIM:602531, Orphanet:79094] +synonym: "GRNG" RELATED ABBREVIATION [] synonym: "progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome" EXACT [Orphanet:79094] xref: GARD:16697 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:79094/attributed", source="Orphanet:79094/ntbt", source="Orphanet:79094"} @@ -253419,9 +253460,9 @@ subset: orphanet_rare {source="Orphanet:561"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome" EXACT [Orphanet:561] -synonym: "Marshall-SMITH syndrome" RELATED [OMIM:602535] -synonym: "Marshall-Smith syndrome" EXACT [MONDO:Lexical, OMIM:602535] -synonym: "MRSHSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602535] +synonym: "Marshall-SMITH syndrome" RELATED [] +synonym: "Marshall-Smith syndrome" EXACT [DOID:0050858, icd11.foundation:417951600, MONDO:Lexical, OMIM:602535, Orphanet:561] +synonym: "MRSHSS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050858 {source="MONDO:equivalentTo"} xref: GARD:6985 {source="MONDO:GARD"} xref: ICD10CM:Q87.3 {source="Orphanet:561/attributed", source="Orphanet:561/ntbt", source="Orphanet:561"} @@ -253449,9 +253490,9 @@ name: ichthyosis, hystrix-like, with hearing loss subset: gard_rare {source="GARD:15349", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HID syndrome" RELATED [OMIM:602540] -synonym: "hystrix-like ichthyosis with deafness" EXACT [OMIM:602540, OMIM:genemap2] -synonym: "ichthyosis, hystrix-like, with deafness" NARROW [OMIM:602540] +synonym: "HID syndrome" RELATED [] +synonym: "hystrix-like ichthyosis with deafness" EXACT [] +synonym: "ichthyosis, hystrix-like, with deafness" NARROW [] xref: GARD:15349 {source="MONDO:GARD"} xref: MEDGEN:355410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566528 {source="MONDO:equivalentTo"} @@ -253473,14 +253514,14 @@ subset: orphanet_rare {source="Orphanet:280671"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital megaconial myopathy" EXACT [DOID:0110632, Orphanet:280671] -synonym: "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" EXACT [DOID:0110632] +synonym: "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" EXACT [DOID:0110632, Orphanet:280671] synonym: "congenital muscular dystrophy with mitochondrial structural abnormalities" EXACT [DOID:0110632, Orphanet:280671] -synonym: "MDCMC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602541] +synonym: "MDCMC" RELATED ABBREVIATION [MONDO:Lexical] synonym: "megaconial congenital muscular dystrophy" EXACT [DOID:0110632, Orphanet:280671] synonym: "megaconial congénital muscular dystrophy" RELATED [GARD:0010317] -synonym: "megaconial type congenital muscular dystrophy" EXACT CLINGEN_LABEL [] -synonym: "muscular dystrophy, congenital, megaconial type" RELATED [MONDO:Lexical, OMIM:602541] -synonym: "muscular dystrophy, congenital, with mitochondrial structural abnormalities" RELATED [OMIM:602541] +synonym: "megaconial type congenital muscular dystrophy" EXACT CLINGEN_LABEL [DOID:0110632] +synonym: "muscular dystrophy, congenital, megaconial type" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy, congenital, with mitochondrial structural abnormalities" RELATED [] xref: DOID:0110632 {source="MONDO:equivalentTo"} xref: GARD:10317 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="DOID:0110632", source="Orphanet:280671", source="Orphanet:280671/attributed", source="Orphanet:280671/ntbt"} @@ -253519,12 +253560,12 @@ subset: orphanet_rare {source="Orphanet:1590"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "13q32 deletion" EXACT [Orphanet:1590] -synonym: "anal atresia, hypospadias, and penoscrotal inversion" RELATED [OMIM:602553] +synonym: "anal atresia, hypospadias, and penoscrotal inversion" RELATED [] synonym: "deletion 13q32" EXACT [Orphanet:1590] -synonym: "distal 13q deletion" EXACT [Orphanet:1590] -synonym: "distal monosomy type 13q" EXACT [MONDORULE:4, Orphanet:1590] +synonym: "distal 13q deletion" EXACT [] +synonym: "distal monosomy type 13q" EXACT [MONDORULE:4] synonym: "monosomy 13q32" EXACT [Orphanet:1590] -synonym: "telomeric deletion13q" EXACT [Orphanet:1590] +synonym: "telomeric deletion13q" EXACT [] xref: GARD:16571 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:1590/attributed", source="Orphanet:1590/ntbt", source="Orphanet:1590"} xref: MEDGEN:355405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -253548,7 +253589,7 @@ def: "A dystonia characterized by autosomal dominant inheritance of generalized subset: gard_rare {source="GARD:9631", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "torsion dystonia with onset in infancy" EXACT [OMIM:602554] +synonym: "torsion dystonia with onset in infancy" EXACT [DOID:0090058] xref: DOID:0090058 {source="MONDO:equivalentTo"} xref: GARD:9631 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="DOID:0090058"} @@ -253562,7 +253603,7 @@ is_a: MONDO:0007492 {source="Orphanet:256/btnt"} ! early-onset generalized limb- [Term] id: MONDO:0011250 name: microcephaly, macrotia, and intellectual disability -synonym: "microcephaly, macrotia, and intellectual disability" EXACT [OMIM:602555] +synonym: "microcephaly, macrotia, and intellectual disability" EXACT [] synonym: "microcephaly, macrotia, and mental retardation" EXACT DEPRECATED [OMIM:602555] xref: MEDGEN:355403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566525 {source="MONDO:equivalentTo"} @@ -253592,9 +253633,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SEMD Shohat type" RELATED [GARD:0004980] synonym: "SEMD, Shohat type" EXACT [OMIM:602557, Orphanet:93352] -synonym: "SEMDSH" RELATED ABBREVIATION [OMIM:602557] +synonym: "SEMDSH" RELATED ABBREVIATION [] synonym: "spondyloepimetaphyseal dysplasia Shohat type" RELATED [GARD:0004980] -synonym: "spondyloepimetaphyseal dysplasia, Shohat type" EXACT [OMIM:602557] +synonym: "spondyloepimetaphyseal dysplasia, Shohat type" EXACT [icd11.foundation:1389783101, OMIM:602557, Orphanet:93352] xref: GARD:4980 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93352/attributed", source="Orphanet:93352/ntbt", source="Orphanet:93352"} xref: icd11.foundation:1389783101 {source="MONDO:equivalentTo"} @@ -253621,7 +253662,7 @@ subset: ordo_disorder {source="Orphanet:1524"} subset: ordo_malformation_syndrome {source="Orphanet:1524"} subset: orphanet_rare {source="Orphanet:1524"} subset: rare -synonym: "craniomicromelic syndrome" EXACT [OMIM:602558] +synonym: "craniomicromelic syndrome" EXACT [icd11.foundation:1734157428, OMIM:602558, Orphanet:1524] xref: GARD:1583 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:1524", source="Orphanet:1524/attributed", source="Orphanet:1524/ntbt"} xref: icd11.foundation:1734157428 {source="MONDO:equivalentTo"} @@ -253656,10 +253697,10 @@ subset: ordo_disorder {source="Orphanet:357158"} subset: orphanet_rare {source="Orphanet:357158"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "macroblepharon, ectropion, hypertelorism, and macrostomia" RELATED [OMIM:602562] +synonym: "macroblepharon, ectropion, hypertelorism, and macrostomia" RELATED [] synonym: "macroblepharon-ectropion-hypertelorism-macrostomia syndrome" EXACT [Orphanet:357158] -synonym: "mandibulofacial dysostosis with macroblepharon and macrostomia" RELATED [OMIM:602562] -synonym: "Verloes-Lesenfants syndrome" RELATED [OMIM:602562] +synonym: "mandibulofacial dysostosis with macroblepharon and macrostomia" RELATED [] +synonym: "Verloes-Lesenfants syndrome" RELATED [] xref: GARD:17547 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:357158", source="Orphanet:357158/attributed", source="Orphanet:357158/ntbt"} xref: MEDGEN:355927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -253674,7 +253715,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011256 name: emphysema, congenital, with deafness, penoscrotal web, and intellectual disability -synonym: "emphysema, congenital, with deafness, penoscrotal web, and intellectual disability" EXACT [OMIM:602564] +synonym: "emphysema, congenital, with deafness, penoscrotal web, and intellectual disability" EXACT [] synonym: "emphysema, congenital, with deafness, penoscrotal web, and mental retardation" EXACT DEPRECATED [OMIM:602564] xref: MEDGEN:355926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566519 {source="MONDO:equivalentTo"} @@ -253696,24 +253737,24 @@ synonym: "carbohydrate deficient glycoprotein syndrome type IB" EXACT [Orphanet: synonym: "carbohydrate-deficient glycoprotein syndrome type 1B" RELATED [GARD:0009830] synonym: "CDG 1B" RELATED [GARD:0009830] synonym: "CDG gastrointestinal type" RELATED [GARD:0009830] -synonym: "CDG Ib" RELATED [OMIM:602579] +synonym: "CDG Ib" RELATED [] synonym: "CDG syndrome type IB" EXACT [Orphanet:79319] -synonym: "CDG, gastrointestinal type" RELATED [OMIM:602579] +synonym: "CDG, gastrointestinal type" RELATED [] synonym: "CDG-Ib" EXACT [Orphanet:79319] synonym: "CDG1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602579, Orphanet:79319] synonym: "congenital disorder of glycosylation type 1b" EXACT [Orphanet:79319] synonym: "congenital disorder of glycosylation type IB" EXACT [Orphanet:79319] -synonym: "congenital disorder of glycosylation, type IB" RELATED [MONDO:Lexical, OMIM:602579] -synonym: "Mannosephosphate isomerase deficiency" RELATED [OMIM:602579] -synonym: "Mpi deficiency" RELATED [OMIM:602579] +synonym: "congenital disorder of glycosylation, type IB" RELATED [MONDO:Lexical] +synonym: "Mannosephosphate isomerase deficiency" RELATED [] +synonym: "Mpi deficiency" RELATED [] synonym: "MPI-CDG" EXACT ABBREVIATION [Orphanet:79319] synonym: "MPI-CDG (CDG-Ib)" RELATED [GARD:0009830] synonym: "phosphomannose isomerase deficiency" EXACT [Orphanet:79319] -synonym: "Protein-losing enteropathy-hepatic fibrosis syndrome" RELATED [OMIM:602579] +synonym: "Protein-losing enteropathy-hepatic fibrosis syndrome" RELATED [] synonym: "Saguenay Lac Saint Jean syndrome" RELATED [GARD:0009830] -synonym: "Saguenay-Lac Saint-Jean syndrome" RELATED [OMIM:602579] +synonym: "Saguenay-Lac Saint-Jean syndrome" RELATED [] synonym: "SLSJ syndrome" RELATED [GARD:0009830] -synonym: "Slsj syndrome" RELATED [OMIM:602579] +synonym: "Slsj syndrome" RELATED [] xref: DOID:0080554 {source="MONDO:equivalentTo"} xref: GARD:9830 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:79319/attributed", source="Orphanet:79319/ntbt", source="Orphanet:79319"} @@ -253741,13 +253782,13 @@ def: "Any branchiootic syndrome in which the cause of the disease is a mutation subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anterior segment anomalies with or without cataract" RELATED [OMIM:602588] -synonym: "bo syndrome 1" RELATED [OMIM:602588] -synonym: "BOS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602588] -synonym: "branchiootic dysplasia" RELATED [OMIM:602588] +synonym: "anterior segment anomalies with or without cataract" RELATED [] +synonym: "bo syndrome 1" RELATED [] +synonym: "BOS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "branchiootic dysplasia" RELATED [] synonym: "branchiootic syndrome 1" EXACT [MONDO:Lexical, OMIM:602588] synonym: "branchiootic syndrome caused by mutation in EYA1" EXACT [MONDO:design_pattern] -synonym: "branchiootic syndrome type 1" EXACT [MONDORULE:1, OMIM:602588] +synonym: "branchiootic syndrome type 1" EXACT [MONDORULE:1] synonym: "EYA1 branchiootic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:351307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:602588 {source="MONDO:equivalentTo"} @@ -253765,8 +253806,8 @@ def: "A retinitis pigmentosa that has material basis in variation in the chromos subset: gard_rare {source="GARD:10393", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 22" EXACT [MONDO:Lexical, OMIM:602594] -synonym: "retinitis pigmentosa type 22" EXACT [DOID:0110400, MONDORULE:2] +synonym: "retinitis pigmentosa 22" EXACT [DOID:0110400, MONDO:Lexical, OMIM:602594] +synonym: "retinitis pigmentosa type 22" EXACT [MONDORULE:2] synonym: "RP 22" RELATED [GARD:0010393] synonym: "RP22" EXACT ABBREVIATION [DOID:0110400, MONDO:Lexical, OMIM:602594] xref: DOID:0110400 {source="MONDO:equivalentTo"} @@ -253805,9 +253846,9 @@ subset: n_of_one {source="OMIM:602611"} subset: ordo_disorder {source="Orphanet:163649"} subset: orphanet_rare {source="Orphanet:163649"} subset: rare -synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" EXACT [OMIM:602611] +synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability" EXACT [DOID:0112294] synonym: "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation" EXACT DEPRECATED [OMIM:602611] -synonym: "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome" EXACT [Orphanet:163649] +synonym: "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome" EXACT [] xref: DOID:0112294 {source="MONDO:equivalentTo"} xref: GARD:16993 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:163649/attributed", source="Orphanet:163649/ntbt", source="Orphanet:163649"} @@ -253870,20 +253911,20 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adolescent-onset dystonia of mixed type" RELATED [GARD:0009630] synonym: "dystonia 6" RELATED [GARD:0009630] -synonym: "dystonia 6, torsion" RELATED [MONDO:Lexical, OMIM:602629] +synonym: "dystonia 6, torsion" RELATED [MONDO:Lexical] synonym: "DYT-THAP1" EXACT [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/books/NBK1155/] -synonym: "DYT6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602629, Orphanet:98806] +synonym: "DYT6" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C156361, OMIM:602629, Orphanet:98806] synonym: "generalised cervical and upper-limb-onset dystonia" EXACT OMO:0003005 [] synonym: "generalised isolated dystonia caused by mutation in THAP1" EXACT OMO:0003005 [] synonym: "generalized cervical and upper-limb-onset dystonia" EXACT [Orphanet:98806] synonym: "generalized isolated dystonia caused by mutation in THAP1" EXACT [MONDO:design_pattern] synonym: "idiopathic torsion dystonia of mixed type" EXACT [Orphanet:98806] -synonym: "primary dystonia, DYT6 type" RELATED [Orphanet:98806] +synonym: "primary dystonia, DYT6 type" RELATED [] synonym: "THAP1 generalised isolated dystonia" EXACT OMO:0003005 [] synonym: "THAP1 generalized isolated dystonia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "torsion dystonia adult onset mixed type" RELATED [GARD:0009630] -synonym: "torsion dystonia type 6" EXACT [DOID:0090039, MONDORULE:1] -synonym: "torsion dystonia, adult-onset, mixed type" RELATED [OMIM:602629] +synonym: "torsion dystonia type 6" EXACT [MONDORULE:1] +synonym: "torsion dystonia, adult-onset, mixed type" RELATED [] xref: DOID:0090039 {source="MONDO:equivalentTo"} xref: GARD:9630 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="Orphanet:98806", source="DOID:0090039", source="Orphanet:98806/attributed", source="Orphanet:98806/ntbt"} @@ -253906,7 +253947,7 @@ id: MONDO:0011265 name: tooth agenesis, selective, 2 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "hypodontia/oligodontia 2" RELATED [OMIM:602639] +synonym: "hypodontia/oligodontia 2" RELATED [] synonym: "STHAG2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602639] synonym: "tooth agenesis, selective, 2" EXACT [MONDO:Lexical, OMIM:602639] xref: MEDGEN:400679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -253929,18 +253970,18 @@ subset: orphanet_rare {source="Orphanet:606"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CNBP myotonic dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602668] -synonym: "dystrophia myotonica 2" RELATED [OMIM:602668] +synonym: "DM2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "dystrophia myotonica 2" RELATED [] synonym: "dystrophia myotonica type 2" RELATED [GARD:0009728] -synonym: "myotonic dystrophy 2" RELATED [MONDO:Lexical, OMIM:602668] +synonym: "myotonic dystrophy 2" RELATED [MONDO:Lexical] synonym: "myotonic dystrophy caused by mutation in CNBP" EXACT [MONDO:design_pattern] -synonym: "myotonic dystrophy type 2" EXACT [MONDORULE:1, OMIM:602668, Orphanet:606] -synonym: "myotonic myopathy, proximal" RELATED [OMIM:602668] +synonym: "myotonic dystrophy type 2" EXACT [DOID:0050759, icd11.foundation:1005849639, MONDORULE:1, Orphanet:606] +synonym: "myotonic myopathy, proximal" RELATED [] synonym: "PROMM" RELATED ABBREVIATION [GARD:0009728] synonym: "proximal myotonic dystrophy" EXACT [Orphanet:606] -synonym: "proximal myotonic myopathy" EXACT [DOID:0050759] +synonym: "proximal myotonic myopathy" EXACT [NCIT:C84680, OMIM:602668, Orphanet:606] synonym: "ricker disease" EXACT [Orphanet:606] -synonym: "ricker syndrome" EXACT [OMIM:602668, Orphanet:606] +synonym: "ricker syndrome" EXACT [NCIT:C84680, OMIM:602668, Orphanet:606] xref: DOID:0050759 {source="MONDO:equivalentTo"} xref: GARD:9728 {source="MONDO:GARD"} xref: ICD10CM:G71.1 {source="Orphanet:606", source="DOID:0050759", source="Orphanet:606/attributed", source="Orphanet:606/ntbt"} @@ -253970,10 +254011,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9728/myotoni [Term] id: MONDO:0011267 name: intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration -synonym: "intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration" EXACT [OMIM:602685] -synonym: "mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration" RELATED DEPRECATED [OMIM:602685] -synonym: "mental retardation, severe, with spasticity and tapetoretinal degeneration" EXACT [OMIM:602685, OMIM:genemap2] -synonym: "Mrst" RELATED [OMIM:602685] +synonym: "intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration" EXACT [] +synonym: "mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration" RELATED DEPRECATED [] +synonym: "mental retardation, severe, with spasticity and tapetoretinal degeneration" EXACT [] +synonym: "Mrst" RELATED [] xref: MEDGEN:351159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566429 {source="MONDO:equivalentTo"} xref: OMIM:602685 {source="MONDO:equivalentTo"} @@ -253989,15 +254030,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "classical distal renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] synonym: "classical distal RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] -synonym: "distal renal tubular acidosis 3, with or without sensorineural hearing loss" EXACT [OMIM:602722, OMIM:genemap2] +synonym: "distal renal tubular acidosis 3, with or without sensorineural hearing loss" EXACT [] synonym: "renal tubular acidosis, autosomal recessive with preserved hearing" RELATED [GARD:0004669] -synonym: "renal tubular acidosis, autosomal recessive, with preserved hearing" RELATED [OMIM:602722] -synonym: "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss" EXACT CLINGEN_LABEL [] -synonym: "renal tubular acidosis, distal, autosomal recessive" EXACT [MONDO:Lexical, OMIM:602722] -synonym: "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss" RELATED [OMIM:602722] +synonym: "renal tubular acidosis, autosomal recessive, with preserved hearing" RELATED [] +synonym: "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss" EXACT CLINGEN_LABEL [OMIM:602722] +synonym: "renal tubular acidosis, distal, autosomal recessive" EXACT [MONDO:Lexical] +synonym: "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss" RELATED [] synonym: "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included" RELATED [GARD:0004669] -synonym: "RTA, distal, autosomal recessive" RELATED [OMIM:602722] -synonym: "RTADR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602722] +synonym: "RTA, distal, autosomal recessive" RELATED [] +synonym: "RTADR" RELATED ABBREVIATION [MONDO:Lexical] synonym: "type 1 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] synonym: "type 1 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] xref: GARD:15350 {source="MONDO:GARD"} @@ -254016,10 +254057,10 @@ id: MONDO:0011269 name: psoriasis 2 def: "Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CARD14 psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "psoriasis 2" EXACT [MONDO:Lexical, OMIM:602723] +synonym: "psoriasis 2" EXACT [DOID:0080475, MONDO:Lexical, OMIM:602723] synonym: "psoriasis caused by mutation in CARD14" EXACT [MONDO:design_pattern] -synonym: "psoriasis type 2" EXACT [MONDORULE:1, OMIM:602723] -synonym: "PSORS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602723] +synonym: "psoriasis type 2" EXACT [MONDORULE:1] +synonym: "PSORS2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080475 {source="MONDO:equivalentTo"} xref: MEDGEN:351141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200443 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -254036,11 +254077,11 @@ id: MONDO:0011270 name: prostate cancer, hereditary, 8 subset: gard_rare {source="GARD:15351", source="MONDO:GARD"} subset: rare -synonym: "HPC8" RELATED ABBREVIATION [OMIM:602759] -synonym: "predisposing for prostate cancer" RELATED [OMIM:602759] +synonym: "HPC8" RELATED ABBREVIATION [] +synonym: "predisposing for prostate cancer" RELATED [] synonym: "prostate cancer, hereditary, 8" EXACT [OMIM:602759] -synonym: "prostate cancer, hereditary, type 8" EXACT [MONDORULE:1, OMIM:602759] -synonym: "prostate cancer, susceptibility to" RELATED [OMIM:602759, OMIM:genemap2] +synonym: "prostate cancer, hereditary, type 8" EXACT [MONDORULE:1] +synonym: "prostate cancer, susceptibility to" RELATED [] xref: GARD:15351 {source="MONDO:GARD"} xref: MEDGEN:400539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566426 {source="MONDO:equivalentTo"} @@ -254057,30 +254098,30 @@ def: "An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "classic MmD" BROAD [DOID:0110633] -synonym: "classic multiminicore disease" BROAD [DOID:0110633] -synonym: "classic multiminicore myopathy" BROAD [DOID:0110633] +synonym: "classic MmD" BROAD [] +synonym: "classic multiminicore disease" BROAD [] +synonym: "classic multiminicore myopathy" BROAD [] synonym: "congenital merosin-positive muscular dystrophy with early spine rigidity" EXACT [DOID:0110633] -synonym: "desmin-related myopathy with Mallory bodies" EXACT [DOID:0110633, OMIM:602771] -synonym: "desmin-related myopathy with Mallory body-like inclusions" RELATED EXCLUDE [DOID:0110633] -synonym: "early-onset desmin-related myopathy" RELATED EXCLUDE [DOID:0110633] +synonym: "desmin-related myopathy with Mallory bodies" EXACT [DOID:0110633] +synonym: "desmin-related myopathy with Mallory body-like inclusions" RELATED EXCLUDE [] +synonym: "early-onset desmin-related myopathy" RELATED EXCLUDE [] synonym: "Eichsfeld type congenital muscular dystrophy" EXACT [DOID:0110633] synonym: "MDRS1" EXACT ABBREVIATION [DOID:0110633] -synonym: "minicore myopathy, severe classic form" EXACT [OMIM:602771] -synonym: "multicore myopathy, severe classic form" EXACT [OMIM:602771] -synonym: "multiminicore disease, severe classic form" EXACT [OMIM:602771] -synonym: "muscular dystrophy, congenital, Eichsfeld type" EXACT [OMIM:602771] +synonym: "minicore myopathy, severe classic form" EXACT [] +synonym: "multicore myopathy, severe classic form" EXACT [] +synonym: "multiminicore disease, severe classic form" EXACT [] +synonym: "muscular dystrophy, congenital, Eichsfeld type" EXACT [] synonym: "muscular dystrophy, congenital, merosin-positive, with early spine rigidity" EXACT [OMIM:602771] -synonym: "muscular dystrophy, rigid spine, 1" EXACT [OMIM:602771, OMIM:genemap2] +synonym: "muscular dystrophy, rigid spine, 1" EXACT [] synonym: "myopathy, SEPN1-related" EXACT [OMIM:602771] -synonym: "rigid spine muscular dystrophy 1" EXACT [MONDO:Lexical, OMIM:602771] -synonym: "rigid spine muscular dystrophy type 1" EXACT [DOID:0110633, MONDORULE:1, OMIM:602771] -synonym: "rigid spine syndrome" BROAD [DOID:0110633, OMIM:602771] +synonym: "rigid spine muscular dystrophy 1" EXACT [DOID:0110633, MONDO:Lexical, NCIT:C126691, OMIM:602771] +synonym: "rigid spine muscular dystrophy type 1" EXACT [MONDORULE:1] +synonym: "rigid spine syndrome" BROAD [] synonym: "rigid spine syndrome caused by mutation in SELENON" EXACT [MONDO:design_pattern] -synonym: "RSMD1" EXACT ABBREVIATION [DOID:0110633, MONDO:Lexical, OMIM:602771] -synonym: "RSS" EXACT ABBREVIATION [DOID:0110633] +synonym: "RSMD1" EXACT ABBREVIATION [DOID:0110633, MONDO:Lexical, NCIT:C126691] +synonym: "RSS" EXACT ABBREVIATION [DOID:0110633, NCIT:C126691] synonym: "SELENON rigid spine syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SEPN1-related myopathy" RELATED [DOID:0110633] +synonym: "SEPN1-related myopathy" RELATED [] synonym: "severe classic form minicore myopathy" EXACT [DOID:0110633] synonym: "severe classic form multicore myopathy" EXACT [DOID:0110633] synonym: "severe classic form multiminicore disease" EXACT [DOID:0110633] @@ -254115,9 +254156,9 @@ subset: gard_rare {source="GARD:10384", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "EYS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 25" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:602772] +synonym: "retinitis pigmentosa 25" EXACT CLINGEN_LABEL [DOID:0110384, MONDO:Lexical, OMIM:602772] synonym: "retinitis pigmentosa caused by mutation in EYS" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 25" EXACT [DOID:0110384, MONDORULE:2, OMIM:602772] +synonym: "retinitis pigmentosa type 25" EXACT [MONDORULE:2] synonym: "RP 25" RELATED [GARD:0010384] synonym: "RP25" EXACT ABBREVIATION [DOID:0110384, MONDO:Lexical, OMIM:602772] xref: DOID:0110384 {source="MONDO:equivalentTo"} @@ -254148,16 +254189,16 @@ subset: orphanet_rare {source="Orphanet:168569"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Asrar Facharzt Haque syndrome" EXACT [MONDO:0021937] -synonym: "Faisalabad histiocytosis" RELATED [OMIM:602782] -synonym: "H syndrome" EXACT [OMIM:602782] -synonym: "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness" RELATED [OMIM:602782] -synonym: "histiocytosis with Joint contractures and sensorineural deafness" RELATED [OMIM:602782] -synonym: "histiocytosis-lymphadenopathy plus syndrome" RELATED [OMIM:602782] +synonym: "Faisalabad histiocytosis" RELATED [] +synonym: "H syndrome" EXACT [DOID:0111278, icd11.foundation:107155297, OMIM:602782, Orphanet:168569] +synonym: "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness" RELATED [] +synonym: "histiocytosis with Joint contractures and sensorineural deafness" RELATED [] +synonym: "histiocytosis-lymphadenopathy plus syndrome" RELATED [] synonym: "HJCD" RELATED ABBREVIATION [GARD:0010239] -synonym: "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss" RELATED [OMIM:602782] -synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus" RELATED [OMIM:602782] -synonym: "Rosai-Dorfman disease, familial" RELATED [OMIM:602782] -synonym: "sinus histiocytosis and massive lymphadenopathy" RELATED [OMIM:602782] +synonym: "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss" RELATED [] +synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus" RELATED [] +synonym: "Rosai-Dorfman disease, familial" RELATED [] +synonym: "sinus histiocytosis and massive lymphadenopathy" RELATED [] synonym: "SLC29A3 spectrum disorder" RELATED [GARD:0010239] xref: DOID:0111278 {source="MONDO:equivalentTo"} xref: GARD:10239 {source="MONDO:GARD"} @@ -254193,10 +254234,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:53271"} subset: orphanet_rare {source="Orphanet:53271"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FGFR3-related craniosynostosis" EXACT [DOID:0060703] -synonym: "MNKES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602849] -synonym: "Muenke nonsyndromic coronal craniosynostosis" RELATED [OMIM:602849] -synonym: "Muenke syndrome" EXACT [MONDO:Lexical, OMIM:602849] +synonym: "FGFR3-related craniosynostosis" EXACT [DOID:0060703, NCIT:C84904] +synonym: "MNKES" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Muenke nonsyndromic coronal craniosynostosis" RELATED [] +synonym: "Muenke syndrome" EXACT [DOID:0060703, icd11.foundation:1860572017, MONDO:Lexical, NCIT:C84904, OMIM:602849, Orphanet:53271] synonym: "syndrome of coronal craniosynostosis" RELATED [GARD:0007097] xref: DOID:0060703 {source="MONDO:equivalentTo"} xref: GARD:7097 {source="MONDO:GARD"} @@ -254230,11 +254271,11 @@ subset: orphanet_rare {source="Orphanet:40"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acromesomelic dwarfism Maroteux type" RELATED [GARD:0000507] -synonym: "acromesomelic dysplasia 1, Maroteaux type" EXACT [OMIM:602875, OMIM:genemap2] +synonym: "acromesomelic dysplasia 1, Maroteaux type" EXACT [] synonym: "acromesomelic dysplasia Maroteaux type" RELATED [GARD:0000507] -synonym: "acromesomelic dysplasia, Maroteaux type" EXACT [MONDO:Lexical, OMIM:602875] -synonym: "AMDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602875] -synonym: "St. Helena dysplasia" RELATED [OMIM:602875] +synonym: "acromesomelic dysplasia, Maroteaux type" EXACT [DOID:0080050, MONDO:Lexical, OMIM:602875, Orphanet:40] +synonym: "AMDM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "St. Helena dysplasia" RELATED [] xref: DOID:0080050 {source="MONDO:equivalentTo"} xref: GARD:507 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:40/attributed", source="Orphanet:40/ntbt", source="Orphanet:40"} @@ -254256,9 +254297,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/507/acromeso [Term] id: MONDO:0011276 name: orofacial cleft 2 -synonym: "cleft lip with or without cleft palate, nonsyndromic, 2" RELATED [OMIM:602966] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 2" RELATED [] synonym: "OFC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:602966] -synonym: "orofacial cleft 2" EXACT [MONDO:Lexical, OMIM:602966] +synonym: "orofacial cleft 2" EXACT [DOID:0080396, MONDO:Lexical, OMIM:602966] xref: DOID:0080396 {source="MONDO:equivalentTo"} xref: MEDGEN:400499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566419 {source="MONDO:equivalentTo"} @@ -254270,7 +254311,7 @@ is_a: MONDO:0000358 {source="DOID:0080396", source="MONDO:Redundant", source="OM [Term] id: MONDO:0011277 name: obsolete leukoregulin -synonym: "leukoregulin" EXACT [OMIM:602994] +synonym: "leukoregulin" EXACT [] xref: OMIM:602994 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -254289,11 +254330,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22593", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 17" NARROW [DOID:0110472] -synonym: "autosomal recessive nonsyndromic deafness 17" NARROW [OMIM:603010] -synonym: "autosomal recessive nonsyndromic deafness type 17" NARROW [DOID:0110472, MONDORULE:2] -synonym: "deafness, autosomal recessive 17" NARROW [MONDO:Lexical, OMIM:603010, OMIM:genemap2] -synonym: "DFNB17" NARROW ABBREVIATION [DOID:0110472, MONDO:Lexical, OMIM:603010] +synonym: "autosomal recessive deafness 17" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 17" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 17" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 17" NARROW [MONDO:Lexical] +synonym: "DFNB17" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110472 {source="MONDO:equivalentTo"} xref: GARD:22593 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110472"} @@ -254309,7 +254350,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011280 name: schizophrenia 6 def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21." [DOID:0070082] -synonym: "schizophrenia 6" EXACT [MONDO:Lexical, OMIM:603013] +synonym: "schizophrenia 6" EXACT [DOID:0070082, MONDO:Lexical, OMIM:603013] synonym: "schizophrenia susceptibility locus, chromosome 8P-related" EXACT [OMIM:603013] synonym: "SCZD6" EXACT ABBREVIATION [DOID:0070082, MONDO:Lexical, OMIM:603013] xref: DOID:0070082 {source="MONDO:equivalentTo"} @@ -254327,24 +254368,24 @@ def: "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, enc subset: gard_rare {source="GARD:18210", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS Ic" EXACT [DOID:0110667] -synonym: "Cms Ic" RELATED [OMIM:603034] -synonym: "Cms Ic, formerly" RELATED [OMIM:603034] -synonym: "CMS5" EXACT ABBREVIATION [DOID:0110667, MONDO:Lexical, OMIM:603034] +synonym: "CMS Ic" EXACT ABBREVIATION [DOID:0110667] +synonym: "Cms Ic" RELATED [] +synonym: "Cms Ic, formerly" RELATED [] +synonym: "CMS5" EXACT ABBREVIATION [DOID:0110667, MONDO:Lexical, NCIT:C129304, OMIM:603034] synonym: "COLQ congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "congenital myasthenic syndrome 5" EXACT CLINGEN_LABEL [] +synonym: "congenital myasthenic syndrome 5" EXACT CLINGEN_LABEL [DOID:0110667, NCIT:C129304] synonym: "congenital myasthenic syndrome caused by mutation in COLQ" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome Engel type" EXACT [DOID:0110667] -synonym: "congenital myasthenic syndrome type 5" EXACT [DOID:0110667, MONDORULE:1] -synonym: "congenital myasthenic syndrome type Ic" EXACT [DOID:0110667, OMIM:603034] -synonym: "congenital myasthenic syndrome type Ic, formerly" RELATED [OMIM:603034] -synonym: "EAD" EXACT ABBREVIATION [DOID:0110667] +synonym: "congenital myasthenic syndrome type 5" EXACT [MONDORULE:1] +synonym: "congenital myasthenic syndrome type Ic" EXACT [DOID:0110667] +synonym: "congenital myasthenic syndrome type Ic, formerly" RELATED [] +synonym: "EAD" EXACT ABBREVIATION [DOID:0110667, NCIT:C129304] synonym: "end plate acetylcholinesterase deficiency" EXACT [DOID:0110667] -synonym: "endplate acetylcholinesterase deficiency" RELATED [OMIM:603034] +synonym: "endplate acetylcholinesterase deficiency" RELATED [] synonym: "Engel congenital myasthenic syndrome" EXACT [DOID:0110667, OMIM:603034] -synonym: "myasthenic syndrome, congenital, 5" RELATED [MONDO:Lexical, OMIM:603034] -synonym: "myasthenic syndrome, congenital, Engel type" RELATED [OMIM:603034] -synonym: "myasthenic syndrome, congenital, type 5" EXACT [MONDORULE:1, OMIM:603034] +synonym: "myasthenic syndrome, congenital, 5" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, Engel type" RELATED [] +synonym: "myasthenic syndrome, congenital, type 5" EXACT [MONDORULE:1] xref: DOID:0110667 {source="MONDO:equivalentTo"} xref: GARD:18210 {source="MONDO:GARD"} xref: MEDGEN:400481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -254363,11 +254404,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011282 name: tumor suppressor gene on chromosome 11 -synonym: "nonsmall cell lung cancer" EXACT [OMIM:603040, OMIM:genemap2] -synonym: "Nonsmall cell lung cancer suppressor" RELATED [OMIM:603040] -synonym: "Tsg11" RELATED [OMIM:603040] +synonym: "nonsmall cell lung cancer" EXACT [] +synonym: "Nonsmall cell lung cancer suppressor" RELATED [] +synonym: "Tsg11" RELATED [] synonym: "tumor suppressor gene on chromosome 11" EXACT [OMIM:603040] -synonym: "tumor suppressor Gene on chromosome type 11" EXACT [MONDORULE:2, OMIM:603040] +synonym: "tumor suppressor Gene on chromosome type 11" EXACT [MONDORULE:2] synonym: "tumour suppressor Gene on chromosome type 11" EXACT OMO:0003005 [] xref: MEDGEN:355171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:603040 {source="MONDO:equivalentTo"} @@ -254381,15 +254422,15 @@ name: mitochondrial DNA depletion syndrome 1 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mitochondrial DNA depletion syndrome 1" EXACT CLINGEN_LABEL [] -synonym: "mitochondrial DNA depletion syndrome 1 (MNGIE type)" RELATED [MONDO:Lexical, OMIM:603041] -synonym: "mitochondrial DNA depletion syndrome type 1" EXACT [DOID:0080119, MONDORULE:1] -synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related" RELATED [OMIM:603041] -synonym: "Mngie, tymp-related" RELATED [OMIM:603041] -synonym: "MTDPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603041] -synonym: "myoneurogastrointestinal encephalopathy syndrome" RELATED [OMIM:603041] -synonym: "Polip syndrome" RELATED [OMIM:603041] -synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction" RELATED [OMIM:603041] +synonym: "mitochondrial DNA depletion syndrome 1" EXACT CLINGEN_LABEL [DOID:0080119, OMIM:603041] +synonym: "mitochondrial DNA depletion syndrome 1 (MNGIE type)" RELATED [MONDO:Lexical] +synonym: "mitochondrial DNA depletion syndrome type 1" EXACT [MONDORULE:1] +synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related" RELATED [] +synonym: "Mngie, tymp-related" RELATED [] +synonym: "MTDPS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myoneurogastrointestinal encephalopathy syndrome" RELATED [] +synonym: "Polip syndrome" RELATED [] +synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction" RELATED [] xref: DOID:0080119 {source="MONDO:equivalentTo"} xref: MEDGEN:1631838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:603041 {source="MONDO:equivalentTo", source="DOID:0080119"} @@ -254402,7 +254443,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011284 name: astigmatism def: "Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)" [MESH:D001251] -synonym: "astigmatism" EXACT [MONDO:ambiguous, OMIM:603047] +synonym: "astigmatism" EXACT [DOID:11782, icd11.foundation:402558626, MONDO:ambiguous, OMIM:603047] synonym: "astigmatism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: CSP:1116-1831 {source="DOID:11782"} xref: DOID:11782 {source="MONDO:equivalentTo"} @@ -254430,14 +254471,14 @@ def: "An age related macular degeneration associated with polymorphism in the he subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "age related macular degeneration type 1" EXACT [DOID:0110014, MONDORULE:1] +synonym: "age related macular degeneration type 1" EXACT [MONDORULE:1] synonym: "age related maculopathy 1" EXACT [DOID:0110014] synonym: "ARMD1" EXACT ABBREVIATION [DOID:0110014, MONDO:Lexical, OMIM:603075] -synonym: "macular degeneration, age-related" BROAD [OMIM:603075, OMIM:genemap2] -synonym: "macular degeneration, age-related, 1" RELATED [MONDO:Lexical, OMIM:603075] -synonym: "macular degeneration, age-related, reduced risk of" EXACT [OMIM:603075, OMIM:genemap2] -synonym: "macular Degeneration, age-related, type 1" EXACT [MONDORULE:1, OMIM:603075] -synonym: "maculopathy, age-related, 1" RELATED [OMIM:603075] +synonym: "macular degeneration, age-related" BROAD [] +synonym: "macular degeneration, age-related, 1" RELATED [MONDO:Lexical] +synonym: "macular degeneration, age-related, reduced risk of" EXACT [] +synonym: "macular Degeneration, age-related, type 1" EXACT [MONDORULE:1] +synonym: "maculopathy, age-related, 1" RELATED [] xref: DOID:0110014 {source="MONDO:equivalentTo"} xref: MEDGEN:400475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566411 {source="MONDO:equivalentTo"} @@ -254454,11 +254495,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22594", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 13" NARROW [DOID:0110468] -synonym: "autosomal recessive nonsyndromic deafness 13" NARROW [OMIM:603098] -synonym: "autosomal recessive nonsyndromic deafness type 13" NARROW [DOID:0110468, MONDORULE:2] -synonym: "deafness, autosomal recessive 13" NARROW [MONDO:Lexical, OMIM:603098, OMIM:genemap2] -synonym: "DFNB13" NARROW ABBREVIATION [DOID:0110468, MONDO:Lexical, OMIM:603098] +synonym: "autosomal recessive deafness 13" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 13" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 13" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 13" NARROW [MONDO:Lexical] +synonym: "DFNB13" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110468 {source="MONDO:equivalentTo"} xref: GARD:22594 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110468"} @@ -254484,7 +254525,7 @@ subset: rare synonym: "CAP syndrome" EXACT [OMIM:603116, Orphanet:85199] synonym: "CDAGS syndrome" EXACT [OMIM:603116, Orphanet:85199] synonym: "craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations" RELATED [GARD:0009506] -synonym: "craniosynostosis, anal anomalies, and porokeratosis" RELATED [OMIM:603116] +synonym: "craniosynostosis, anal anomalies, and porokeratosis" RELATED [] xref: GARD:9506 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85199", source="Orphanet:85199/attributed", source="Orphanet:85199/ntbt"} xref: MEDGEN:351066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -254500,7 +254541,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011288 name: spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal -synonym: "spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal" RELATED [OMIM:603117] +synonym: "spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal" RELATED [] xref: MEDGEN:351065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566409 {source="MONDO:equivalentTo"} xref: OMIM:603117 {source="MONDO:equivalentTo"} @@ -254519,7 +254560,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0011290 name: dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability -synonym: "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability" EXACT [OMIM:603133] +synonym: "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability" EXACT [] synonym: "dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation" EXACT DEPRECATED [OMIM:603133] xref: MEDGEN:350359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566408 {source="MONDO:equivalentTo"} @@ -254539,20 +254580,20 @@ subset: orphanet_rare {source="Orphanet:79320"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ALG6 congenital disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ALG6-CDG" RELATED [Orphanet:79320] +synonym: "ALG6-CDG" RELATED [] synonym: "ALG6-CDG (CDG-Ic)" EXACT [GARD:0009829] -synonym: "ALG6-CDG1C" EXACT ABBREVIATION [Orphanet:79320] +synonym: "ALG6-CDG1C" EXACT ABBREVIATION [] synonym: "ALG6-congenital disorder of glycosylation 1C" EXACT CLINGEN_LABEL [] synonym: "carbohydrate deficient glycoprotein syndrome type Ic" EXACT [Orphanet:79320] synonym: "carbohydrate-deficient glycoprotein syndrome type 1C" RELATED [GARD:0009829] synonym: "carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)" RELATED [GARD:0009829] -synonym: "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide" RELATED [OMIM:603147] -synonym: "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly" RELATED [OMIM:603147] -synonym: "carbohydrate-deficient glycoprotein syndrome, type V" RELATED [OMIM:603147] +synonym: "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide" RELATED [] +synonym: "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly" RELATED [] +synonym: "carbohydrate-deficient glycoprotein syndrome, type V" RELATED [] synonym: "carbohydrate-deficient glycoprotein syndrome, type V (formerly)" RELATED [GARD:0009829] -synonym: "carbohydrate-deficient glycoprotein syndrome, type V, formerly" RELATED [OMIM:603147] +synonym: "carbohydrate-deficient glycoprotein syndrome, type V, formerly" RELATED [] synonym: "CDG 1C" RELATED [GARD:0009829] -synonym: "CDG Ic" RELATED [OMIM:603147] +synonym: "CDG Ic" RELATED [] synonym: "CDG syndrome type Ic" EXACT [Orphanet:79320] synonym: "CDG-Ic" EXACT [Orphanet:79320] synonym: "CDG1C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603147, Orphanet:79320] @@ -254560,8 +254601,8 @@ synonym: "CDGIc" EXACT [NCIT:C126869] synonym: "CDGS5 (formerly)" RELATED [GARD:0009829] synonym: "congenital disorder of glycosylation caused by mutation in ALG6" EXACT [MONDO:design_pattern] synonym: "congenital disorder of glycosylation type 1C" EXACT [Orphanet:79320] -synonym: "congenital disorder of glycosylation type Ic" EXACT [Orphanet:79320] -synonym: "congenital disorder of glycosylation, type Ic" RELATED [MONDO:Lexical, OMIM:603147] +synonym: "congenital disorder of glycosylation type Ic" EXACT [NCIT:C126869, Orphanet:79320] +synonym: "congenital disorder of glycosylation, type Ic" RELATED [MONDO:Lexical] synonym: "glucosyltransferase 1 deficiency" EXACT [Orphanet:79320] xref: DOID:0080555 {source="MONDO:equivalentTo"} xref: GARD:9829 {source="MONDO:GARD"} @@ -254605,9 +254646,9 @@ replaced_by: MONDO:0004743 id: MONDO:0011294 name: schizophrenia 5 def: "A schizophrenia that has material basis in a mutation on chromosome 6q13-q26." [DOID:0070081] -synonym: "schizophrenia 5" EXACT [MONDO:Lexical, OMIM:603175] -synonym: "schizophrenia 5 with or without an affective disorder" RELATED [OMIM:603175] -synonym: "schizophrenia susceptibility locus, chromosome 6Q-related" RELATED [OMIM:603175] +synonym: "schizophrenia 5" EXACT [DOID:0070081, MONDO:Lexical, OMIM:603175] +synonym: "schizophrenia 5 with or without an affective disorder" RELATED [] +synonym: "schizophrenia susceptibility locus, chromosome 6Q-related" RELATED [] synonym: "SCZD5" EXACT ABBREVIATION [DOID:0070081, MONDO:Lexical, OMIM:603175] xref: DOID:0070081 {source="MONDO:equivalentTo"} xref: MEDGEN:350351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -254619,9 +254660,9 @@ is_a: MONDO:0005090 {source="DC-OMIM:603175", source="DOID:0070081"} ! schizophr id: MONDO:0011295 name: schizophrenia 7 def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32." [DOID:0070083] -synonym: "schizophrenia 7" EXACT [MONDO:Lexical, OMIM:603176] -synonym: "schizophrenia 7 with or without an affective disorder" RELATED [OMIM:603176] -synonym: "schizophrenia susceptibility locus, chromosome 13Q-related" RELATED [OMIM:603176] +synonym: "schizophrenia 7" EXACT [DOID:0070083, MONDO:Lexical, OMIM:603176] +synonym: "schizophrenia 7 with or without an affective disorder" RELATED [] +synonym: "schizophrenia susceptibility locus, chromosome 13Q-related" RELATED [] synonym: "SCZD7" EXACT ABBREVIATION [DOID:0070083, MONDO:Lexical, OMIM:603176] xref: DOID:0070083 {source="MONDO:equivalentTo"} xref: MEDGEN:350350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -254636,7 +254677,7 @@ def: "Any Meckel syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:8743", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Meckel syndrome 2" RELATED [DOID:0070116] +synonym: "Meckel syndrome 2" RELATED [] synonym: "Meckel syndrome caused by mutation in TMEM216" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome type 2" RELATED [GARD:0008743] synonym: "Meckel syndrome, type 2" EXACT [MONDO:Lexical, OMIM:603194] @@ -254666,10 +254707,10 @@ def: "An autosomal dominant nocturnal frontal lobe epilepsy that has material ba subset: gard_rare {source="GARD:15352", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 2" EXACT [DOID:0060683, MONDORULE:1] +synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 2" EXACT [MONDORULE:1] synonym: "ENFL2" EXACT ABBREVIATION [DOID:0060683, MONDO:Lexical, OMIM:603204] -synonym: "epilepsy, nocturnal frontal lobe, 2" RELATED [MONDO:Lexical, OMIM:603204] -synonym: "epilepsy, nocturnal frontal lobe, type 2" EXACT [OMIM:603204, OMIM:genemap2] +synonym: "epilepsy, nocturnal frontal lobe, 2" RELATED [MONDO:Lexical] +synonym: "epilepsy, nocturnal frontal lobe, type 2" EXACT [] synonym: "nocturnal frontal lobe epilepsy 2" EXACT [DOID:0060683] xref: DOID:0060683 {source="MONDO:equivalentTo"} xref: GARD:15352 {source="MONDO:GARD"} @@ -254686,9 +254727,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011298 name: schizophrenia 8 def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p." [DOID:0070084] -synonym: "schizophrenia 8" EXACT [MONDO:Lexical, OMIM:603206] -synonym: "schizophrenia 8 with or without an affective disorder" RELATED [OMIM:603206] -synonym: "schizophrenia susceptibility locus, chromosome 18-related" RELATED [OMIM:603206] +synonym: "schizophrenia 8" EXACT [DOID:0070084, MONDO:Lexical, OMIM:603206] +synonym: "schizophrenia 8 with or without an affective disorder" RELATED [] +synonym: "schizophrenia susceptibility locus, chromosome 18-related" RELATED [] synonym: "SCZD8" EXACT ABBREVIATION [DOID:0070084, MONDO:Lexical, OMIM:603206] xref: DOID:0070084 {source="MONDO:equivalentTo"} xref: MEDGEN:400456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -254710,13 +254751,13 @@ synonym: "autosomal dominant Huntington-like neurodegenerative disorder" EXACT [ synonym: "early-onset prion disease with prominent psychiatric features" EXACT [DOID:0090103, Orphanet:157941] synonym: "HDL1" EXACT ABBREVIATION [DOID:0090103, MONDO:Lexical, OMIM:603218, Orphanet:157941] synonym: "HLN1" EXACT ABBREVIATION [DOID:0090103] -synonym: "Huntington disease-like 1" EXACT [MONDO:Lexical, OMIM:603218] -synonym: "Huntington disease-like type 1" EXACT [DOID:0090103, MONDORULE:1, OMIM:603218, Orphanet:157941] -synonym: "Huntington's disease-like 1" RELATED [DOID:0090103] +synonym: "Huntington disease-like 1" EXACT [DOID:0090103, MONDO:Lexical, OMIM:603218, Orphanet:157941] +synonym: "Huntington disease-like type 1" EXACT [MONDORULE:1] +synonym: "Huntington's disease-like 1" RELATED [] synonym: "Huntington-like neurodegenerative disorder 1" EXACT [DOID:0090103, OMIM:603218] -synonym: "Huntington-like neurodegenerative disorder, autosomal dominant" RELATED [OMIM:603218] +synonym: "Huntington-like neurodegenerative disorder, autosomal dominant" RELATED [] synonym: "neurodegenerative disease with chorea caused by mutation in PRNP" EXACT [MONDO:design_pattern] -synonym: "prion disease, early-onset, with prominent psychiatric features" RELATED [OMIM:603218] +synonym: "prion disease, early-onset, with prominent psychiatric features" RELATED [] synonym: "PRNP neurodegenerative disease with chorea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090103 {source="MONDO:equivalentTo"} xref: GARD:16985 {source="MONDO:GARD"} @@ -254738,7 +254779,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011300 name: myopia 3, autosomal dominant synonym: "myopia 3, autosomal dominant" EXACT [MONDO:Lexical, OMIM:603221] -synonym: "myopia-3" EXACT [OMIM:603221, OMIM:genemap2] +synonym: "myopia-3" EXACT [] synonym: "MYP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603221] xref: MEDGEN:400454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566397 {source="MONDO:equivalentTo"} @@ -254758,12 +254799,12 @@ subset: ordo_disorder {source="Orphanet:94089"} subset: orphanet_rare {source="Orphanet:94089"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Php 1B" RELATED [OMIM:603233] -synonym: "PHP1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603233] -synonym: "pseudohypoparathyroidism Ib" EXACT [OMIM:603233, OMIM:genemap2] -synonym: "pseudohypoparathyroidism type IB" RELATED [DOID:0080222] -synonym: "pseudohypoparathyroidism, type 1B" RELATED [OMIM:603233] -synonym: "pseudohypoparathyroidism, type IB" RELATED [MONDO:Lexical, OMIM:603233] +synonym: "Php 1B" RELATED [] +synonym: "PHP1B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pseudohypoparathyroidism Ib" EXACT [] +synonym: "pseudohypoparathyroidism type IB" RELATED [] +synonym: "pseudohypoparathyroidism, type 1B" RELATED [] +synonym: "pseudohypoparathyroidism, type IB" RELATED [MONDO:Lexical] xref: DOID:0080222 {source="MONDO:equivalentTo"} xref: GARD:10680 {source="MONDO:GARD"} xref: ICD10CM:E20.1 {source="Orphanet:94089/attributed", source="Orphanet:94089/ntbt", source="Orphanet:94089"} @@ -254784,8 +254825,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10680/pseudo id: MONDO:0011302 name: type 1 diabetes mellitus 17 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25." [DOID:0110754, MONDO:patterns/inherited_susceptibility, PMID:9788970] -synonym: "diabetes mellitus, insulin-dependent, 17" RELATED [MONDO:Lexical, OMIM:603266] -synonym: "IDDM17" EXACT ABBREVIATION [DOID:0110754, MONDO:Lexical, OMIM:603266] +synonym: "diabetes mellitus, insulin-dependent, 17" RELATED [MONDO:Lexical] +synonym: "IDDM17" EXACT ABBREVIATION [DOID:0110754, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 17" EXACT [DOID:0110754, OMIM:603266] xref: DOID:0110754 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110754"} @@ -254809,13 +254850,13 @@ subset: ordo_histopathological_subtype {source="Orphanet:93213"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACTN4 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93213] -synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" RELATED [Orphanet:93213] -synonym: "focal segmental glomerulosclerosis 1" EXACT [MONDO:Lexical, OMIM:603278] +synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [] +synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" RELATED [] +synonym: "focal segmental glomerulosclerosis 1" EXACT [DOID:0111128, MONDO:Lexical, OMIM:603278] synonym: "focal segmental glomerulosclerosis caused by mutation in ACTN4" EXACT [MONDO:design_pattern] -synonym: "focal segmental glomerulosclerosis type 1" EXACT [DOID:0111128, MONDORULE:1, OMIM:603278] +synonym: "focal segmental glomerulosclerosis type 1" EXACT [MONDORULE:1] synonym: "FSGS1" EXACT ABBREVIATION [DOID:0111128, MONDO:Lexical, OMIM:603278] -synonym: "glomerulosclerosis, focal segmental, 1" RELATED [OMIM:603278] +synonym: "glomerulosclerosis, focal segmental, 1" RELATED [] xref: DOID:0111128 {source="MONDO:equivalentTo"} xref: GARD:15353 {source="MONDO:GARD"} xref: ICD10CM:N04.1 {source="DOID:0111128", source="Orphanet:93213", source="Orphanet:93213/attributed", source="Orphanet:93213/ntbt"} @@ -254837,13 +254878,13 @@ def: "Any familial cerebral cavernous malformation in which the cause of the dis subset: gard_rare {source="GARD:18313", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CCM2" EXACT ABBREVIATION [DOID:0060670, MONDO:Lexical, OMIM:603284] +synonym: "CCM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603284] synonym: "CCM2 familial cerebral cavernous malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cerebral cavernous malformation 2" EXACT CLINGEN_LABEL [] -synonym: "cerebral cavernous malformation type 2" EXACT [DOID:0060670, MONDORULE:1] -synonym: "cerebral cavernous malformations 2" RELATED [MONDO:Lexical, OMIM:603284] -synonym: "cerebral cavernous malformations type 2" EXACT [MONDORULE:1, OMIM:603284] -synonym: "cerebral cavernous malformations-2" EXACT [OMIM:603284, OMIM:genemap2] +synonym: "cerebral cavernous malformation 2" EXACT CLINGEN_LABEL [DOID:0060670] +synonym: "cerebral cavernous malformation type 2" EXACT [MONDORULE:1] +synonym: "cerebral cavernous malformations 2" RELATED [MONDO:Lexical] +synonym: "cerebral cavernous malformations type 2" EXACT [MONDORULE:1] +synonym: "cerebral cavernous malformations-2" EXACT [] synonym: "familial cerebral cavernous malformation caused by mutation in CCM2" EXACT [MONDO:design_pattern] xref: DOID:0060670 {source="MONDO:equivalentTo"} xref: GARD:18313 {source="MONDO:GARD"} @@ -254866,12 +254907,12 @@ def: "Any familial cerebral cavernous malformation in which the cause of the dis subset: gard_rare {source="GARD:18314", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CCM3" EXACT ABBREVIATION [DOID:0060671, MONDO:Lexical, OMIM:603285] -synonym: "cerebral cavernous malformation 3" EXACT CLINGEN_LABEL [] -synonym: "cerebral cavernous malformation type 3" EXACT [DOID:0060671, MONDORULE:1] +synonym: "CCM3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603285] +synonym: "cerebral cavernous malformation 3" EXACT CLINGEN_LABEL [DOID:0060671] +synonym: "cerebral cavernous malformation type 3" EXACT [MONDORULE:1] synonym: "cerebral cavernous malformations 3" EXACT [MONDO:Lexical, OMIM:603285] -synonym: "cerebral cavernous malformations type 3" EXACT [MONDORULE:1, OMIM:603285] -synonym: "cerebral cavernous malformations-3" EXACT [OMIM:603285, OMIM:genemap2] +synonym: "cerebral cavernous malformations type 3" EXACT [MONDORULE:1] +synonym: "cerebral cavernous malformations-3" EXACT [] synonym: "familial cerebral cavernous malformation caused by mutation in PDCD10" EXACT [MONDO:design_pattern] synonym: "PDCD10 familial cerebral cavernous malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060671 {source="MONDO:equivalentTo"} @@ -254902,8 +254943,8 @@ is_a: MONDO:0003847 {source="MESH:C566392/inferred"} ! hereditary disease id: MONDO:0011307 name: schizophrenia 2 def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21." [DOID:0070078] -synonym: "schizophrenia 2" EXACT [MONDO:Lexical, OMIM:603342] -synonym: "schizophrenia susceptibility locus, chromosome 11Q-related" RELATED [OMIM:603342] +synonym: "schizophrenia 2" EXACT [DOID:0070078, MONDO:Lexical, OMIM:603342] +synonym: "schizophrenia susceptibility locus, chromosome 11Q-related" RELATED [] synonym: "SCZD2" EXACT ABBREVIATION [DOID:0070078, MONDO:Lexical, OMIM:603342] xref: DOID:0070078 {source="MONDO:equivalentTo"} xref: MEDGEN:350323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -254921,17 +254962,17 @@ subset: ordo_disorder {source="Orphanet:53693"} subset: orphanet_rare {source="Orphanet:53693"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fellman disease" EXACT [Orphanet:53693] -synonym: "Fellman syndrome" RELATED [GARD:0000001, OMIM:603358] +synonym: "Fellman disease" EXACT [DOID:0111455, Orphanet:53693] +synonym: "Fellman syndrome" RELATED [GARD:0000001] synonym: "Finnish lactic acidosis with hepatic hemosiderosis" RELATED [GARD:0000001] -synonym: "Finnish lethal neonatal metabolic syndrome" RELATED [GARD:0000001, OMIM:603358] +synonym: "Finnish lethal neonatal metabolic syndrome" RELATED [GARD:0000001] synonym: "FLNMS" RELATED ABBREVIATION [GARD:0000001] -synonym: "gracile syndrome" EXACT [OMIM:603358] -synonym: "Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [Orphanet:53693] -synonym: "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [Orphanet:53693] -synonym: "Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death" RELATED [OMIM:603358] +synonym: "gracile syndrome" EXACT [DOID:0111455, OMIM:603358, Orphanet:53693] +synonym: "Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [DOID:0111455] +synonym: "Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [DOID:0111455, Orphanet:53693] +synonym: "Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death" RELATED [] synonym: "Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death" RELATED [GARD:0000001] -synonym: "lactic acidosis, Finnish, with hepatic hemosiderosis" RELATED [OMIM:603358] +synonym: "lactic acidosis, Finnish, with hepatic hemosiderosis" RELATED [] xref: DOID:0111455 {source="MONDO:equivalentTo"} xref: GARD:1 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:53693/attributed", source="Orphanet:53693/ntbt", source="Orphanet:53693"} @@ -254954,7 +254995,7 @@ subset: ordo_disorder {source="Orphanet:99819"} subset: orphanet_rare {source="Orphanet:99819"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyperthyroidism, familial gestational" RELATED [OMIM:603373] +synonym: "hyperthyroidism, familial gestational" RELATED [] xref: DOID:0081102 {source="MONDO:equivalentTo"} xref: GARD:16913 {source="MONDO:GARD"} xref: ICD10CM:E05.8 {source="Orphanet:99819/attributed", source="Orphanet:99819/ntbt", source="Orphanet:99819"} @@ -254974,7 +255015,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011310 name: long chain fatty acids, defect in transport of -synonym: "long chain fatty acids, defect in TRANSPORT OF" RELATED [OMIM:603376] +synonym: "long chain fatty acids, defect in TRANSPORT OF" RELATED [] xref: MEDGEN:350307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:603376 {source="MONDO:equivalentTo"} xref: UMLS:C1863958 {source="MEDGEN:350307", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -254984,10 +255025,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011311 name: obsolete glaucoma 1, open angle, F subset: clingen {source="MONDO:CLINGEN"} -synonym: "glaucoma 1, open angle, F" EXACT [MONDO:Lexical, OMIM:603383] -synonym: "glaucoma 1, open angle, type F" EXACT [MONDORULE:1, OMIM:603383] -synonym: "glaucoma, primary open angle, adult-onset" RELATED [OMIM:603383] -synonym: "GLC1F" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603383] +synonym: "glaucoma 1, open angle, F" EXACT [MONDO:Lexical] +synonym: "glaucoma 1, open angle, type F" EXACT [MONDORULE:1] +synonym: "glaucoma, primary open angle, adult-onset" RELATED [] +synonym: "GLC1F" RELATED ABBREVIATION [MONDO:Lexical] xref: MESH:C566383 {source="MONDO:obsoleteEquivalent"} xref: OMIM:603383 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0011311 {source="MONDO:CLINGEN"} @@ -255002,10 +255043,10 @@ subset: gard_rare {source="GARD:15354", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "nonmedullary thyroid carcinoma, with or without cell oxyphilia" RELATED [GARD:0008488] -synonym: "TCO" RELATED ABBREVIATION [OMIM:603386] +synonym: "TCO" RELATED ABBREVIATION [] synonym: "TCO 1" RELATED [GARD:0008488] -synonym: "TCO1" RELATED ABBREVIATION [OMIM:603386] -synonym: "thyroid carcinoma, nonmedullary, with cell oxyphilia" EXACT [OMIM:603386, OMIM:genemap2] +synonym: "TCO1" RELATED ABBREVIATION [] +synonym: "thyroid carcinoma, nonmedullary, with cell oxyphilia" EXACT [] synonym: "thyroid carcinoma, nonmedullary, with or without cell oxyphilia" EXACT [OMIM:603386] xref: GARD:15354 {source="MONDO:GARD"} xref: MEDGEN:400409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -255024,13 +255065,13 @@ def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus synd subset: gard_rare {source="GARD:18077", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Meg-PMG-Megacc syndrome" RELATED [OMIM:603387] -synonym: "megalencephaly, mega corpus callosum, and complete lack of motor development" RELATED [OMIM:603387] -synonym: "megalencephaly, polymicrogyria, mega corpus callosum syndrome" RELATED [OMIM:603387] +synonym: "Meg-PMG-Megacc syndrome" RELATED [] +synonym: "megalencephaly, mega corpus callosum, and complete lack of motor development" RELATED [] +synonym: "megalencephaly, polymicrogyria, mega corpus callosum syndrome" RELATED [] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" EXACT [MONDO:Lexical, OMIM:603387] -synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1" EXACT [MONDORULE:1, OMIM:603387] +synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1" EXACT [MONDORULE:1] synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2" EXACT [MONDO:design_pattern] -synonym: "MPPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603387] +synonym: "MPPH1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18077 {source="MONDO:GARD"} xref: MEDGEN:861164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -255050,8 +255091,8 @@ id: MONDO:0011314 name: Graves disease, susceptibility to, 2 subset: predisposition synonym: "Graves disease, susceptibility to, 2" EXACT [OMIM:603388] -synonym: "Graves disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:603388] -synonym: "Grd2" RELATED [OMIM:603388] +synonym: "Graves disease, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "Grd2" RELATED [] xref: MEDGEN:350301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:603388 {source="MONDO:equivalentTo"} xref: UMLS:C1863923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350301"} @@ -255107,13 +255148,13 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10219/tonoki id: MONDO:0011319 name: obsolete activator of liver function 1 comment: Reason: out of scope. Term to consider: none -synonym: "activator of liver function 1" EXACT [MONDO:Lexical, OMIM:603416] -synonym: "activator of liver function type 1" EXACT [MONDORULE:1, OMIM:603416] -synonym: "ALFN1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603416] -synonym: "Half1" RELATED [OMIM:603416] -synonym: "ribosomal PROTEIN L21 pseudogene 1" RELATED [OMIM:603416] -synonym: "ribosomal Protein L21 pseudogene 1" RELATED [OMIM:603416] -synonym: "RPL21P1" RELATED ABBREVIATION [OMIM:603416] +synonym: "activator of liver function 1" EXACT [MONDO:Lexical] +synonym: "activator of liver function type 1" EXACT [MONDORULE:1] +synonym: "ALFN1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Half1" RELATED [] +synonym: "ribosomal PROTEIN L21 pseudogene 1" RELATED [] +synonym: "ribosomal Protein L21 pseudogene 1" RELATED [] +synonym: "RPL21P1" RELATED ABBREVIATION [] xref: OMIM:603416 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4503" xsd:anyURI @@ -255129,11 +255170,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:3268"} subset: orphanet_rare {source="Orphanet:3268"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Giuffre-Tsukahara syndrome" EXACT [OMIM:603438, Orphanet:3268] +synonym: "Giuffre-Tsukahara syndrome" EXACT [OMIM:603438] synonym: "Giuffré-Tsukahara syndrome" EXACT [Orphanet:3268] -synonym: "radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability" RELATED [OMIM:603438] -synonym: "radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation" RELATED DEPRECATED [OMIM:603438] -synonym: "Tsukahara syndrome" EXACT [Orphanet:3268] +synonym: "radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability" RELATED [] +synonym: "radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation" RELATED DEPRECATED [] +synonym: "Tsukahara syndrome" EXACT [OMIM:603438, Orphanet:3268] synonym: "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability" RELATED [GARD:0000394] synonym: "Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation" RELATED DEPRECATED [GARD:0000394] xref: GARD:394 {source="MONDO:GARD"} @@ -255168,11 +255209,11 @@ id: MONDO:0011323 name: arhinia, choanal atresia, and microphthalmia subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "arhinia, choanal atresia, and microphthalmia" EXACT [OMIM:603457] -synonym: "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism" RELATED [OMIM:603457] -synonym: "BAMS" RELATED ABBREVIATION [OMIM:603457] -synonym: "BOSMA arhinia microphthalmia syndrome" RELATED [OMIM:603457] -synonym: "Bosma arhinia microphthalmia syndrome" RELATED [OMIM:603457] +synonym: "arhinia, choanal atresia, and microphthalmia" EXACT [] +synonym: "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism" RELATED [] +synonym: "BAMS" RELATED ABBREVIATION [] +synonym: "BOSMA arhinia microphthalmia syndrome" RELATED [] +synonym: "Bosma arhinia microphthalmia syndrome" RELATED [] xref: MEDGEN:355084 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537429 {source="MONDO:equivalentTo"} xref: OMIM:603457 {source="MONDO:equivalentTo"} @@ -255202,10 +255243,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FANCF" EXACT ABBREVIATION [DOID:0111088, MONDO:Lexical, OMIM:603467] synonym: "Fanconi anaemia complementation group type F" EXACT OMO:0003005 [] -synonym: "Fanconi anemia complementation group F" EXACT CLINGEN_LABEL [] -synonym: "Fanconi anemia complementation group type F" EXACT [DOID:0111088, MONDORULE:1] -synonym: "Fanconi anemia, complementation group F" RELATED [MONDO:Lexical, OMIM:603467] -synonym: "Fanconi Anemia, complementation group type F" EXACT [MONDORULE:1, OMIM:603467] +synonym: "Fanconi anemia complementation group F" EXACT CLINGEN_LABEL [DOID:0111088] +synonym: "Fanconi anemia complementation group type F" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group F" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type F" EXACT [MONDORULE:1] xref: DOID:0111088 {source="MONDO:equivalentTo"} xref: GARD:15355 {source="MONDO:GARD"} xref: MEDGEN:854016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -255225,13 +255266,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult-onset citrullinemia type 2" RELATED [GARD:0010215] synonym: "adult-onset citrullinemia type II" RELATED [GARD:0010215] -synonym: "citrin deficiency" RELATED [GARD:0010215, OMIM:603471] +synonym: "citrin deficiency" RELATED [GARD:0010215] synonym: "citrullinemia type 2" RELATED [GARD:0010215] synonym: "citrullinemia type II" RELATED [GARD:0010215] -synonym: "citrullinemia, adult-onset type II" EXACT [OMIM:603471, OMIM:genemap2] -synonym: "citrullinemia, type II, ADULT-onset" RELATED [OMIM:603471] +synonym: "citrullinemia, adult-onset type II" EXACT [] +synonym: "citrullinemia, type II, ADULT-onset" RELATED [] synonym: "citrullinemia, type II, adult-onset" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:603471] -synonym: "CTLN2" RELATED ABBREVIATION [GARD:0010215, MONDO:Lexical, OMIM:603471] +synonym: "CTLN2" RELATED ABBREVIATION [GARD:0010215, MONDO:Lexical] xref: DOID:0070342 {source="MONDO:equivalentTo"} xref: NANDO:1200980 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: OMIM:603471 {source="MONDO:equivalentTo", source="GARD:0010215"} @@ -255252,8 +255293,8 @@ subset: orphanet_rare {source="Orphanet:2289"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "neuronal intranuclear hyaline inclusion disease" RELATED [GARD:0003971] -synonym: "neuronal intranuclear inclusion disease" EXACT [OMIM:603472] -synonym: "Niid" RELATED [OMIM:603472] +synonym: "neuronal intranuclear inclusion disease" EXACT [DOID:0081294, icd11.foundation:693937860, NCIT:C122655, OMIM:603472, Orphanet:2289] +synonym: "Niid" RELATED [] xref: DOID:0081294 {source="MONDO:equivalentTo"} xref: GARD:3971 {source="MONDO:GARD"} xref: ICD10CM:G31.0 {source="Orphanet:2289", source="Orphanet:2289/attributed", source="Orphanet:2289/ntbt"} @@ -255297,8 +255338,8 @@ subset: orphanet_rare {source="Orphanet:98761"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603516, Orphanet:98761] -synonym: "spinocerebellar ataxia 10" RELATED [MONDO:Lexical, OMIM:603516] -synonym: "spinocerebellar ataxia type 10" EXACT [MONDORULE:2, OMIM:603516] +synonym: "spinocerebellar ataxia 10" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 10" EXACT [DOID:0050960, icd11.foundation:157300879, MONDORULE:2, Orphanet:98761] xref: DOID:0050960 {source="MONDO:equivalentTo"} xref: GARD:10474 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:98761/attributed", source="Orphanet:98761/ntbt", source="Orphanet:98761"} @@ -255321,8 +255362,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:264688"} subset: orphanet_rare {source="Orphanet:264688"} subset: rare -synonym: "chylothorax, congenital" RELATED [OMIM:603523] -synonym: "hydrothorax, congenital" RELATED [OMIM:603523] +synonym: "chylothorax, congenital" RELATED [] +synonym: "hydrothorax, congenital" RELATED [] xref: DOID:0060646 {source="MONDO:equivalentTo"} xref: GARD:10156 {source="MONDO:GARD"} xref: ICD10CM:I89.8 {source="Orphanet:264688", source="Orphanet:264688/ntbt"} @@ -255371,7 +255412,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:69085"} subset: orphanet_rare {source="Orphanet:69085"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "limb-mammary syndrome" EXACT [MONDO:Lexical, OMIM:603543] +synonym: "limb-mammary syndrome" EXACT [icd11.foundation:1958986288, MONDO:Lexical, OMIM:603543, Orphanet:69085] synonym: "LMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603543, Orphanet:69085] synonym: "mammary hypoplasia, ectrodactyly, and other hand/foot anomalies" RELATED [GARD:0010051] xref: GARD:10051 {source="MONDO:GARD"} @@ -255402,16 +255443,16 @@ subset: ordo_disorder {source="Orphanet:93360"} subset: orphanet_rare {source="Orphanet:93360"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SEMD-MD" EXACT [DOID:0112199, Orphanet:93360] -synonym: "SEMDJL2" EXACT ABBREVIATION [DOID:0112199, MONDO:Lexical, OMIM:603546, Orphanet:93360] +synonym: "SEMD-MD" EXACT ABBREVIATION [DOID:0112199, Orphanet:93360] +synonym: "SEMDJL2" EXACT ABBREVIATION [DOID:0112199, MONDO:Lexical, NCIT:C125419, OMIM:603546, Orphanet:93360] synonym: "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" EXACT [DOID:0112199, Orphanet:93360] -synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity type 2" RELATED [MONDO:Lexical, OMIM:603546] -synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 2" EXACT [DOID:0112199, Orphanet:93360] -synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, Hall type" RELATED [OMIM:603546] -synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type" RELATED [OMIM:603546] -synonym: "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" EXACT [DOID:0112199, Orphanet:93360] -synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity, type 2" RELATED [OMIM:603546] -synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, type 2" RELATED [OMIM:603546] +synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity type 2" RELATED [MONDO:Lexical] +synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 2" EXACT [DOID:0112199, NCIT:C125419, Orphanet:93360] +synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, Hall type" RELATED [] +synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type" RELATED [] +synonym: "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" EXACT [DOID:0112199, OMIM:603546, Orphanet:93360] +synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity, type 2" RELATED [] +synonym: "spondyloepimetaphyseal dysplasia with Joint laxity, type 2" RELATED [] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations Hall type" RELATED [GARD:0009866] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type" RELATED [GARD:0009866] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" EXACT [DOID:0112199, OMIM:603546, Orphanet:93360] @@ -255439,16 +255480,16 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:9929", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "familial hemophagocytic lymphohistiocytosis 4" EXACT CLINGEN_LABEL [] -synonym: "familial hemophagocytic lymphohistiocytosis type 4" EXACT [DOID:0110924, MONDORULE:1] +synonym: "familial hemophagocytic lymphohistiocytosis 4" EXACT CLINGEN_LABEL [DOID:0110924] +synonym: "familial hemophagocytic lymphohistiocytosis type 4" EXACT [MONDORULE:1] synonym: "FHL4" EXACT ABBREVIATION [DOID:0110924, MONDO:Lexical, OMIM:603552] synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11" EXACT [MONDO:design_pattern] -synonym: "hemophagocytic lymphohistiocytosis, familial, 4" RELATED [MONDO:Lexical, OMIM:603552] -synonym: "hemophagocytic lymphohistiocytosis, familial, type 4" EXACT [MONDORULE:1, OMIM:603552] -synonym: "HLH4" EXACT ABBREVIATION [DOID:0110924] -synonym: "Hlh4" RELATED [OMIM:603552] -synonym: "HPLH4" EXACT ABBREVIATION [DOID:0110924] -synonym: "Hplh4" RELATED [OMIM:603552] +synonym: "hemophagocytic lymphohistiocytosis, familial, 4" RELATED [MONDO:Lexical] +synonym: "hemophagocytic lymphohistiocytosis, familial, type 4" EXACT [MONDORULE:1] +synonym: "HLH4" EXACT ABBREVIATION [DOID:0110924, OMIM:603552] +synonym: "Hlh4" RELATED [] +synonym: "HPLH4" EXACT ABBREVIATION [DOID:0110924, OMIM:603552] +synonym: "Hplh4" RELATED [] synonym: "STX11 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110924 {source="MONDO:equivalentTo"} xref: GARD:9929 {source="MONDO:GARD"} @@ -255473,15 +255514,15 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:9922", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "familial hemophagocytic lymphohistiocytosis type 2" EXACT [DOID:0110922, MONDORULE:1] +synonym: "familial hemophagocytic lymphohistiocytosis type 2" EXACT [MONDORULE:1] synonym: "FHL2" EXACT ABBREVIATION [DOID:0110922, MONDO:Lexical, OMIM:603553] synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1" EXACT [MONDO:design_pattern] -synonym: "hemophagocytic lymphohistiocytosis, familial, 2" RELATED [MONDO:Lexical, OMIM:603553] -synonym: "hemophagocytic lymphohistiocytosis, familial, type 2" EXACT [MONDORULE:1, OMIM:603553] -synonym: "HLH2" EXACT ABBREVIATION [DOID:0110922] -synonym: "Hlh2" RELATED [OMIM:603553] -synonym: "HPLH2" EXACT ABBREVIATION [DOID:0110922] -synonym: "Hplh2" RELATED [OMIM:603553] +synonym: "hemophagocytic lymphohistiocytosis, familial, 2" RELATED [MONDO:Lexical] +synonym: "hemophagocytic lymphohistiocytosis, familial, type 2" EXACT [MONDORULE:1] +synonym: "HLH2" EXACT ABBREVIATION [DOID:0110922, OMIM:603553] +synonym: "Hlh2" RELATED [] +synonym: "HPLH2" EXACT ABBREVIATION [DOID:0110922, OMIM:603553] +synonym: "Hplh2" RELATED [] synonym: "PRF1 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110922 {source="MONDO:equivalentTo"} xref: GARD:9922 {source="MONDO:GARD"} @@ -255509,10 +255550,10 @@ subset: orphanet_rare {source="Orphanet:39041"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "combined immunodeficiency with hypereosinophilia" EXACT [DOID:0060010, Orphanet:39041] -synonym: "Omenn syndrome" EXACT CLINGEN_LABEL [OMIM:603554] +synonym: "Omenn syndrome" EXACT CLINGEN_LABEL [DOID:0060010, NCIT:C61240, OMIM:603554, Orphanet:39041] synonym: "reticuloendotheliosis familial with eosinophilia" RELATED [GARD:0008198] -synonym: "reticuloendotheliosis, familial, with eosinophilia" RELATED [OMIM:603554] -synonym: "severe combined immunodeficiency with hypereosinophilia" RELATED [OMIM:603554] +synonym: "reticuloendotheliosis, familial, with eosinophilia" RELATED [] +synonym: "severe combined immunodeficiency with hypereosinophilia" RELATED [] xref: DOID:0060010 {source="MONDO:equivalentTo"} xref: GARD:8198 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="DOID:0060010", source="Orphanet:39041", source="Orphanet:39041/attributed", source="Orphanet:39041/ntbt"} @@ -255543,11 +255584,11 @@ subset: orphanet_rare {source="Orphanet:100989"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 8" EXACT [DOID:0110823] -synonym: "autosomal dominant spastic paraplegia type 8" EXACT [DOID:0110823] +synonym: "autosomal dominant spastic paraplegia type 8" EXACT [DOID:0110823, Orphanet:100989] synonym: "hereditary spastic paraplegia caused by mutation in WASHC5" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 8" EXACT [DOID:0110823, MONDORULE:1] +synonym: "hereditary spastic paraplegia type 8" EXACT [MONDORULE:1] synonym: "spastic paraplegia 8" RELATED [GARD:0009591] -synonym: "spastic paraplegia 8, autosomal dominant" RELATED [MONDO:Lexical, OMIM:603563] +synonym: "spastic paraplegia 8, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG8" EXACT ABBREVIATION [DOID:0110823, MONDO:Lexical, OMIM:603563, Orphanet:100989] synonym: "WASHC5 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110823 {source="MONDO:equivalentTo"} @@ -255577,7 +255618,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:141127"} subset: orphanet_rare {source="Orphanet:141127"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "tracheobronchial stenosis, congenital" RELATED [OMIM:603569] +synonym: "tracheobronchial stenosis, congenital" RELATED [] xref: GARD:12008 {source="MONDO:GARD"} xref: ICD10CM:Q32.1 {source="Orphanet:141127/inclusion", source="Orphanet:141127/ntbt", source="Orphanet:141127"} xref: icd11.foundation:2095672409 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:141127"} @@ -255597,7 +255638,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12008/congen [Term] id: MONDO:0011341 name: microcephaly, facial abnormalities, micromelia, and intellectual disability -synonym: "microcephaly, facial abnormalities, micromelia, and intellectual disability" EXACT [OMIM:603572] +synonym: "microcephaly, facial abnormalities, micromelia, and intellectual disability" EXACT [] synonym: "microcephaly, facial abnormalities, micromelia, and mental retardation" EXACT DEPRECATED [OMIM:603572] xref: MEDGEN:350957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566361 {source="MONDO:equivalentTo"} @@ -255615,16 +255656,16 @@ subset: ordo_disorder {source="Orphanet:238459"} subset: orphanet_rare {source="Orphanet:238459"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carbohydrate deficient glycoprotein syndrome type IIf" EXACT [Orphanet:238459] -synonym: "CDG IIf" RELATED [OMIM:603585] +synonym: "carbohydrate deficient glycoprotein syndrome type IIf" EXACT [DOID:0070258, Orphanet:238459] +synonym: "CDG IIf" RELATED [] synonym: "CDG syndrome type IIf" EXACT [Orphanet:238459] synonym: "CDG-IIf" EXACT [Orphanet:238459] -synonym: "CDG2F" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603585, Orphanet:238459] -synonym: "CMP-sialic acid transporter deficiency" EXACT [Orphanet:238459] +synonym: "CDG2F" EXACT ABBREVIATION [DOID:0070258, MONDO:Lexical, OMIM:603585, Orphanet:238459] +synonym: "CMP-sialic acid transporter deficiency" EXACT [DOID:0070258, Orphanet:238459] synonym: "congenital disorder of glycosylation type 2f" EXACT [Orphanet:238459] -synonym: "congenital disorder of glycosylation type IIf" EXACT [Orphanet:238459] -synonym: "congenital disorder of glycosylation, type IIf" RELATED [MONDO:Lexical, OMIM:603585] -synonym: "SLC35A1-CDG" EXACT ABBREVIATION [Orphanet:356961] +synonym: "congenital disorder of glycosylation type IIf" EXACT [DOID:0070258, Orphanet:238459] +synonym: "congenital disorder of glycosylation, type IIf" RELATED [MONDO:Lexical] +synonym: "SLC35A1-CDG" EXACT ABBREVIATION [DOID:0070258, Orphanet:238459] synonym: "SLC35A1-CDG (CDG-IIf)" RELATED [GARD:0012409] synonym: "SLC35A1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] xref: DOID:0070258 {source="MONDO:equivalentTo"} @@ -255686,13 +255727,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "type 2 xanthinuria" RELATED [GARD:0005620] synonym: "type II xanthinuria" RELATED [GARD:0005620] -synonym: "XAN2" EXACT ABBREVIATION [MESH:C566358] +synonym: "XAN2" EXACT ABBREVIATION [DOID:0070453, MESH:C566358, OMIM:603592] synonym: "xanthine dehydrogenase and aldehyde oxidase combined deficiency of" RELATED [GARD:0005620] synonym: "xanthine dehydrogenase and aldehyde oxidase, combined deficiency of" EXACT [MESH:C566358, OMIM:603592] synonym: "xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency" EXACT [Orphanet:93602] synonym: "xanthinuria type 2" RELATED [GARD:0005620] -synonym: "xanthinuria, type 2" RELATED [OMIM:603592] -synonym: "xanthinuria, type II" RELATED [OMIM:603592] +synonym: "xanthinuria, type 2" RELATED [] +synonym: "xanthinuria, type II" RELATED [] synonym: "XDH and AOX dual deficiency" EXACT [Orphanet:93602] xref: DOID:0070453 {source="MONDO:equivalentTo"} xref: GARD:5620 {source="MONDO:GARD"} @@ -255766,15 +255807,15 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:9726", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 17" NARROW [DOID:0110548] -synonym: "autosomal dominant nonsyndromic deafness 17" NARROW [OMIM:603622] +synonym: "autosomal dominant deafness 17" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 17" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYH9" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 17" NARROW [DOID:0110548, MONDORULE:2] -synonym: "cochleosaccular degeneration" RELATED [OMIM:603622] -synonym: "deafness, autosomal dominant 17" NARROW [MONDO:Lexical, OMIM:603622, OMIM:genemap2] +synonym: "autosomal dominant nonsyndromic deafness type 17" NARROW [MONDORULE:2] +synonym: "cochleosaccular degeneration" RELATED [] +synonym: "deafness, autosomal dominant 17" NARROW [MONDO:Lexical] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 17" NARROW [GARD:0009726] -synonym: "deafness, autosomal dominant type 17" NARROW [MONDORULE:2, OMIM:603622] -synonym: "DFNA17" NARROW ABBREVIATION [DOID:0110548, MONDO:Lexical, OMIM:603622] +synonym: "deafness, autosomal dominant type 17" NARROW [MONDORULE:2] +synonym: "DFNA17" NARROW ABBREVIATION [MONDO:Lexical] synonym: "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration" RELATED [GARD:0009726] synonym: "MYH9 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nonsyndromic hereditary deafness DFNA17" NARROW [GARD:0009726] @@ -255798,15 +255839,15 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22595", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 21" NARROW [DOID:0110479] -synonym: "autosomal recessive nonsyndromic deafness 21" NARROW [OMIM:603629] +synonym: "autosomal recessive deafness 21" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 21" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TECTA" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in tecta" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 21" NARROW [DOID:0110479, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 21" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 21" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 21" NARROW [MONDO:Lexical, OMIM:603629, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 21" NARROW [MONDORULE:2, OMIM:603629] -synonym: "DFNB21" NARROW ABBREVIATION [DOID:0110479, MONDO:Lexical, OMIM:603629] +synonym: "deafness, autosomal recessive 21" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 21" NARROW [MONDORULE:2] +synonym: "DFNB21" NARROW ABBREVIATION [MONDO:Lexical] synonym: "TECTA autosomal recessive nonsyndromic deafness" NARROW [MONDO:patterns/disease_series_by_gene] synonym: "tecta autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern] xref: DOID:0110479 {source="MONDO:equivalentTo"} @@ -255867,9 +255908,9 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:15356", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 7" EXACT [MONDO:Lexical, OMIM:603649] +synonym: "cone-rod dystrophy 7" EXACT [DOID:0111012, MONDO:Lexical, OMIM:603649] synonym: "cone-rod dystrophy caused by mutation in RIMS1" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 7" EXACT [DOID:0111012, MONDORULE:1, OMIM:603649] +synonym: "cone-rod dystrophy type 7" EXACT [MONDORULE:1] synonym: "CORD7" EXACT ABBREVIATION [DOID:0111012, MONDO:Lexical, OMIM:603649] synonym: "RIMS1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111012 {source="MONDO:equivalentTo"} @@ -255931,8 +255972,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1827"} subset: orphanet_rare {source="Orphanet:1827"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acromelic frontonasal dysostosis" EXACT [MONDO:Lexical, OMIM:603671, Orphanet:1827] -synonym: "acromelic frontonasal dysplasia" RELATED [Orphanet:1827] +synonym: "acromelic frontonasal dysostosis" EXACT [DOID:0060342, MONDO:Lexical, OMIM:603671, Orphanet:1827] +synonym: "acromelic frontonasal dysplasia" RELATED [] synonym: "AFND" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603671, Orphanet:1827] synonym: "frontonasal dysplasia acromelic" RELATED [GARD:0002393] synonym: "Toriello syndrome" EXACT [Orphanet:1827] @@ -255959,11 +256000,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22596", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 14" NARROW [DOID:0110469] -synonym: "autosomal recessive nonsyndromic deafness 14" NARROW [OMIM:603678] -synonym: "autosomal recessive nonsyndromic deafness type 14" NARROW [DOID:0110469, MONDORULE:2] -synonym: "deafness, autosomal recessive 14" NARROW [MONDO:Lexical, OMIM:603678, OMIM:genemap2] -synonym: "DFNB14" NARROW ABBREVIATION [DOID:0110469, MONDO:Lexical, OMIM:603678] +synonym: "autosomal recessive deafness 14" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 14" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 14" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 14" NARROW [MONDO:Lexical] +synonym: "DFNB14" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110469 {source="MONDO:equivalentTo"} xref: GARD:22596 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110469"} @@ -255981,10 +256022,10 @@ name: prostate cancer/brain cancer susceptibility subset: inferred_rare subset: predisposition subset: rare -synonym: "Capb" RELATED [OMIM:603688] -synonym: "Pcbc" RELATED [OMIM:603688] +synonym: "Capb" RELATED [] +synonym: "Pcbc" RELATED [] synonym: "prostate cancer/brain cancer susceptibility" EXACT [OMIM:603688] -synonym: "prostate cancer/brain cancer susceptibility, somatic" EXACT [OMIM:603688, OMIM:genemap2] +synonym: "prostate cancer/brain cancer susceptibility, somatic" EXACT [] xref: MEDGEN:400334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:603688 {source="MONDO:equivalentTo"} xref: UMLS:C1863600 {source="MEDGEN:400334", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -256006,17 +256047,17 @@ subset: ordo_disorder {source="Orphanet:178464"} subset: orphanet_rare {source="Orphanet:178464"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADMERF" EXACT ABBREVIATION [Orphanet:178464] +synonym: "ADMERF" EXACT ABBREVIATION [] synonym: "distal myopathy with early respiratory muscle involvement" EXACT [MONDO:0011859] -synonym: "Edstrom myopathy" EXACT [OMIM:603689] +synonym: "Edstrom myopathy" EXACT [DOID:0111188, OMIM:603689] synonym: "Edström myopathy" EXACT [Orphanet:178464] -synonym: "hereditary inclusion body myopathy with early respiratory failure" EXACT [Orphanet:178464] -synonym: "hereditary proximal myopathy with early respiratory failure" EXACT [OMIM:603689] -synonym: "HIBM-ERF" EXACT [Orphanet:178464] -synonym: "HMERF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603689, Orphanet:178464] +synonym: "hereditary inclusion body myopathy with early respiratory failure" EXACT [DOID:0111188, Orphanet:178464] +synonym: "hereditary proximal myopathy with early respiratory failure" EXACT [] +synonym: "HIBM-ERF" EXACT ABBREVIATION [DOID:0111188, Orphanet:178464] +synonym: "HMERF" EXACT ABBREVIATION [DOID:0111188, MONDO:Lexical, Orphanet:178464] synonym: "HMERF-ERF" EXACT [GARD:0012591] synonym: "myofibrillar myopathy with early respiratory failure" EXACT [Orphanet:178464] -synonym: "myopathy, distal, with early respiratory failure, autosomal dominant" EXACT [OMIM:607569] +synonym: "myopathy, distal, with early respiratory failure, autosomal dominant" EXACT [OMIM:603689] synonym: "myopathy, proximal, with early respiratory muscle involvement" EXACT [OMIM:603689] xref: DOID:0111188 {source="MONDO:equivalentTo"} xref: GARD:12591 {source="MONDO:GARD"} @@ -256046,10 +256087,10 @@ name: diabetes mellitus, noninsulin-dependent, 3 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "diabetes mellitus, noninsulin-dependent, 3" EXACT [OMIM:603694] -synonym: "diabetes mellitus, noninsulin-dependent, type 3" EXACT [MONDORULE:1, OMIM:603694] -synonym: "NIDDM3" RELATED ABBREVIATION [OMIM:603694] -synonym: "noninsulin-dependent diabetes mellitus 3" RELATED [OMIM:603694] -synonym: "type 2 diabetes mellitus 3" EXACT [OMIM:603694, OMIM:genemap2] +synonym: "diabetes mellitus, noninsulin-dependent, type 3" EXACT [MONDORULE:1] +synonym: "NIDDM3" RELATED ABBREVIATION [] +synonym: "noninsulin-dependent diabetes mellitus 3" RELATED [] +synonym: "type 2 diabetes mellitus 3" EXACT [OMIM:603694] xref: MEDGEN:400332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566342 {source="MONDO:equivalentTo"} xref: OMIM:603694 {source="MONDO:equivalentTo"} @@ -256065,14 +256106,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22597", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 16" NARROW [DOID:0110471] -synonym: "autosomal recessive nonsyndromic deafness 16" NARROW [OMIM:603720] +synonym: "autosomal recessive deafness 16" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 16" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in STRC" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 16" NARROW [DOID:0110471, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 16" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 16" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 16" NARROW [MONDO:Lexical, OMIM:603720, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 16" NARROW [MONDORULE:2, OMIM:603720] -synonym: "DFNB16" NARROW ABBREVIATION [DOID:0110471, MONDO:Lexical, OMIM:603720] +synonym: "deafness, autosomal recessive 16" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 16" NARROW [MONDORULE:2] +synonym: "DFNB16" NARROW ABBREVIATION [MONDO:Lexical] synonym: "STRC autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110471 {source="MONDO:equivalentTo"} xref: GARD:22597 {source="MONDO:GARD"} @@ -256101,11 +256142,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "blepharophimosis - intellectual disability syndrome, SBBYS type" EXACT CLINGEN_LABEL [] synonym: "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome" EXACT [Orphanet:3047] -synonym: "Ohdo syndrome, SBBYS variant" EXACT [DOID:0060290, MONDO:Lexical, OMIM:603736] +synonym: "Ohdo syndrome, SBBYS variant" EXACT [MONDO:Lexical, OMIM:603736] synonym: "Say-Barber-Biesecker-Young-Simpson syndrome" EXACT [DOID:0060290, OMIM:603736, Orphanet:3047] -synonym: "SBBYSS" EXACT ABBREVIATION [DOID:0060290, MONDO:Lexical, OMIM:603736, Orphanet:3047] -synonym: "SBBYSS syndrome" EXACT [OMIM:603736, OMIM:genemap2] -synonym: "Young-Simpson syndrome" RELATED [OMIM:603736] +synonym: "SBBYSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603736, Orphanet:3047] +synonym: "SBBYSS syndrome" EXACT [] +synonym: "Young-Simpson syndrome" RELATED [] xref: DOID:0060290 {source="MONDO:equivalentTo"} xref: GARD:16618 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3047/attributed", source="Orphanet:3047/ntbt", source="Orphanet:3047"} @@ -256136,13 +256177,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "germ cell neoplasm of ovary" EXACT [DOID:2156, NCIT:C3873] synonym: "germ cell neoplasm of the ovary" EXACT [NCIT:C3873] -synonym: "germ cell tumor of ovary" EXACT [NCIT:C3873] +synonym: "germ cell tumor of ovary" EXACT [DOID:2156, NCIT:C3873] synonym: "germ cell tumor of the ovary" EXACT [NCIT:C3873] synonym: "germ cell tumour of ovary" EXACT OMO:0003005 [] synonym: "germ cell tumour of the ovary" EXACT OMO:0003005 [] -synonym: "ovarian germ cell cancer" RELATED [OMIM:603737] +synonym: "ovarian germ cell cancer" RELATED [] synonym: "ovarian germ cell neoplasm" EXACT [NCIT:C3873] -synonym: "ovarian germ cell tumor" EXACT [DOID:2156, NCIT:C3873] +synonym: "ovarian germ cell tumor" EXACT [NCIT:C3873] synonym: "ovary germ cell tumor" EXACT [MONDO:patterns/location] synonym: "ovary germ cell tumour" EXACT OMO:0003005 [] xref: DOID:2156 {source="MONDO:equivalentTo"} @@ -256183,7 +256224,7 @@ subset: rare synonym: "papillary Microcarcinoma of the thyroid" EXACT [NCIT:C46004] synonym: "papillary Microcarcinoma of the thyroid gland" EXACT [NCIT:C46004] synonym: "papillary thyroid gland Microcarcinoma" EXACT [NCIT:C46004] -synonym: "papillary thyroid Microcarcinoma" EXACT [OMIM:603744] +synonym: "papillary thyroid Microcarcinoma" EXACT [NCIT:C46004, OMIM:603744] synonym: "thyroid gland papillary Microcarcinoma" EXACT [NCIT:C46004] xref: GARD:15358 {source="MONDO:GARD"} xref: ICDO:8341/3 {source="NCIT:C46004"} @@ -256204,13 +256245,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial hypercholesterolemia caused by mutation in PCSK9" EXACT [MONDO:design_pattern] -synonym: "Fh3" RELATED [OMIM:603776] -synonym: "HCHOLA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603776] +synonym: "Fh3" RELATED [] +synonym: "HCHOLA3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hypercholesterolemia, autosomal dominant, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:603776] -synonym: "hypercholesterolemia, autosomal dominant, type 3" EXACT [MONDORULE:1, OMIM:603776] -synonym: "hypercholesterolemia, familial, 3" EXACT [OMIM:603776, OMIM:genemap2] -synonym: "low density lipoprotein cholesterol level QTL 1" EXACT [OMIM:603776, OMIM:genemap2] -synonym: "low density lipoprotein cholesterol level quantitative trait locus 1" RELATED [OMIM:603776] +synonym: "hypercholesterolemia, autosomal dominant, type 3" EXACT [MONDORULE:1] +synonym: "hypercholesterolemia, familial, 3" EXACT [OMIM:603776] +synonym: "low density lipoprotein cholesterol level QTL 1" EXACT [] +synonym: "low density lipoprotein cholesterol level quantitative trait locus 1" RELATED [] synonym: "PCSK9 familial hypercholesterolemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:355007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566337 {source="MONDO:equivalentTo"} @@ -256234,8 +256275,8 @@ subset: rare synonym: "PROM1 Stargardt disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Stargardt disease 4" EXACT [MONDO:Lexical, OMIM:603786] synonym: "Stargardt disease caused by mutation in PROM1" EXACT [MONDO:design_pattern] -synonym: "Stargardt disease type 4" EXACT [MONDORULE:1, OMIM:603786] -synonym: "STGD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603786] +synonym: "Stargardt disease type 4" EXACT [MONDORULE:1] +synonym: "STGD4" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15359 {source="MONDO:GARD"} xref: MEDGEN:355004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535521 {source="MONDO:equivalentTo"} @@ -256302,21 +256343,21 @@ def: "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18614", source="MONDO:GARD"} subset: rare -synonym: "ARH" EXACT ABBREVIATION [DOID:0090105, MONDO:Lexical, OMIM:603813] -synonym: "ARH1" NARROW ABBREVIATION [DOID:0090105] -synonym: "ARH2" NARROW ABBREVIATION [DOID:0090105] -synonym: "autosomal recessive hypercholesterolemia 1" NARROW [DOID:0090105] -synonym: "autosomal recessive hypercholesterolemia 2" NARROW [DOID:0090105] +synonym: "ARH" EXACT ABBREVIATION [DOID:0090105, MONDO:Lexical] +synonym: "ARH1" NARROW ABBREVIATION [] +synonym: "ARH2" NARROW ABBREVIATION [] +synonym: "autosomal recessive hypercholesterolemia 1" NARROW [] +synonym: "autosomal recessive hypercholesterolemia 2" NARROW [] synonym: "familial autosomal recessive hypercholesterolemia" EXACT [DOID:0090105] -synonym: "FHCB1" RELATED ABBREVIATION [DOID:0090105, OMIM:603813] -synonym: "FHCB1, formerly" RELATED [OMIM:603813] -synonym: "FHCB2" RELATED ABBREVIATION [DOID:0090105, OMIM:603813] -synonym: "FHCB2, formerly" RELATED [OMIM:603813] -synonym: "hypercholesterolemia, autosomal recessive" RELATED [MONDO:Lexical, OMIM:603813] -synonym: "hypercholesterolemia, autosomal recessive, 1" RELATED [OMIM:603813] -synonym: "hypercholesterolemia, autosomal recessive, 1, formerly" RELATED [OMIM:603813] -synonym: "hypercholesterolemia, autosomal recessive, 2" RELATED [OMIM:603813] -synonym: "hypercholesterolemia, autosomal recessive, 2, formerly" RELATED [OMIM:603813] +synonym: "FHCB1" RELATED ABBREVIATION [] +synonym: "FHCB1, formerly" RELATED [] +synonym: "FHCB2" RELATED ABBREVIATION [] +synonym: "FHCB2, formerly" RELATED [] +synonym: "hypercholesterolemia, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "hypercholesterolemia, autosomal recessive, 1" RELATED [] +synonym: "hypercholesterolemia, autosomal recessive, 1, formerly" RELATED [] +synonym: "hypercholesterolemia, autosomal recessive, 2" RELATED [] +synonym: "hypercholesterolemia, autosomal recessive, 2, formerly" RELATED [] xref: DOID:0090105 {source="MONDO:equivalentTo"} xref: GARD:18614 {source="MONDO:GARD"} xref: ICD10CM:E78.0 {source="DOID:0090105"} @@ -256349,11 +256390,11 @@ name: ventricular fibrillation, paroxysmal familial, type 1 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IVF" RELATED ABBREVIATION [OMIM:603829] -synonym: "ventricular fibrillation during myocardial infarction, susceptibility to" RELATED [OMIM:603829] -synonym: "ventricular fibrillation, familial, 1" EXACT [OMIM:603829, OMIM:genemap2] +synonym: "IVF" RELATED ABBREVIATION [] +synonym: "ventricular fibrillation during myocardial infarction, susceptibility to" RELATED [] +synonym: "ventricular fibrillation, familial, 1" EXACT [] synonym: "ventricular fibrillation, paroxysmal familial, 1" EXACT [MONDO:Lexical, OMIM:603829] -synonym: "ventricular fibrillation, paroxysmal familial, type 1" EXACT [MONDORULE:1, OMIM:603829] +synonym: "ventricular fibrillation, paroxysmal familial, type 1" EXACT [MONDORULE:1] synonym: "VF1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603829] xref: ICD10CM:I49.0 {source="Orphanet:228140", source="Orphanet:228140/attributed", source="Orphanet:228140/ntbt"} xref: MEDGEN:414502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -256375,13 +256416,13 @@ def: "An autosomal dominant condition caused by mutation(s) in the SCN5A gene, e subset: gard_rare {source="GARD:3286", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "long QT syndrome 2/3, digenic" RELATED [OMIM:603830] -synonym: "long QT syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:603830] -synonym: "long QT syndrome 3, acquired, susceptibility to" RELATED [OMIM:603830] -synonym: "long QT syndrome 3/6, digenic" RELATED [OMIM:603830] +synonym: "long QT syndrome 2/3, digenic" RELATED [] +synonym: "long QT syndrome 3" EXACT CLINGEN_LABEL [DOID:0110646, MONDO:Lexical, NCIT:C137959, OMIM:603830] +synonym: "long QT syndrome 3, acquired, susceptibility to" RELATED [] +synonym: "long QT syndrome 3/6, digenic" RELATED [] synonym: "long QT syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern] -synonym: "long QT syndrome type 3" EXACT [DOID:0110646, MONDORULE:1, OMIM:603830] -synonym: "LQT3" EXACT ABBREVIATION [DOID:0110646, MONDO:Lexical, OMIM:603830] +synonym: "long QT syndrome type 3" EXACT [MONDORULE:1] +synonym: "LQT3" EXACT ABBREVIATION [DOID:0110646, MONDO:Lexical, NCIT:C137959, OMIM:603830] synonym: "SCN5A long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110646 {source="MONDO:equivalentTo"} xref: GARD:3286 {source="MONDO:GARD"} @@ -256404,9 +256445,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3286/long-qt id: MONDO:0011378 name: obsolete CFM1 comment: This is a gene, not a disease. -synonym: "CFM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603855] -synonym: "cystic fibrosis, modifier of, 1" RELATED [MONDO:Lexical, OMIM:603855] -synonym: "meconium ileus in cystic fibrosis, susceptibility to" RELATED [OMIM:603855] +synonym: "CFM1" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "cystic fibrosis, modifier of, 1" RELATED [MONDO:Lexical] +synonym: "meconium ileus in cystic fibrosis, susceptibility to" RELATED [] xref: OMIM:603855 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1861" xsd:anyURI is_obsolete: true @@ -256439,10 +256480,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:231226"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "beta-thalassemia, dominant inclusion body type" RELATED [OMIM:603902] -synonym: "dyserythropoietic Anemia, congenital, Irish or Weatherall type" RELATED [OMIM:603902] -synonym: "inclusion body beta-thalassemia" EXACT [Orphanet:231226] -synonym: "thalassemia-beta, dominant inclusion-body" EXACT [OMIM:603902] +synonym: "beta-thalassemia, dominant inclusion body type" RELATED [] +synonym: "dyserythropoietic Anemia, congenital, Irish or Weatherall type" RELATED [] +synonym: "inclusion body beta-thalassemia" EXACT [DOID:0080770, Orphanet:231226] +synonym: "thalassemia-beta, dominant inclusion-body" EXACT [] xref: DOID:0080770 {source="MONDO:equivalentTo"} xref: GARD:17164 {source="MONDO:GARD"} xref: ICD10CM:D56.1 {source="Orphanet:231226", source="Orphanet:231226/attributed", source="Orphanet:231226/ntbt"} @@ -256469,7 +256510,7 @@ subset: rare synonym: "drepanocytosis" EXACT [DOID:10923] synonym: "Haemoglobin S disease" RELATED OMO:0003005 [] synonym: "Haemoglobin S disease without crisis" EXACT OMO:0003005 [] -synonym: "haemoglobin SC disease" EXACT OMO:0003005 [] +synonym: "haemoglobin SC disease" EXACT OMO:0003005 [DOID:10923] synonym: "Hb SC disease" EXACT [DOID:10923] synonym: "Hb-S/Hb-C disease" EXACT [DOID:10923] synonym: "Hb-SS disease without crisis" EXACT [DOID:10923] @@ -256477,12 +256518,12 @@ synonym: "HbS disease" RELATED [GARD:0008614] synonym: "Hemoglobin S disease" RELATED [GARD:0008614] synonym: "Hemoglobin S disease without crisis" EXACT [DOID:10923] synonym: "hemoglobin SC disease" EXACT [DOID:10923] -synonym: "HPA 1 recognition polymorphism, beta-globin-related" RELATED [MONDO:Lexical, OMIM:143020] -synonym: "HPA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:143020] -synonym: "restriction fragment length polymorphism, sickle cell Anemia-related" RELATED [OMIM:143020] -synonym: "sickle cell anemia" EXACT [OMIM:603903] -synonym: "Sickle Cell Disease" EXACT [NORD:1714] -synonym: "sickle cell disease" EXACT [NORD:1714, Orphanet:232] +synonym: "HPA 1 recognition polymorphism, beta-globin-related" RELATED [MONDO:Lexical] +synonym: "HPA1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "restriction fragment length polymorphism, sickle cell Anemia-related" RELATED [] +synonym: "sickle cell anemia" EXACT [DOID:10923, NCIT:C34383, OMIM:603903, Orphanet:232] +synonym: "Sickle Cell Disease" EXACT [DOID:0081445, NCIT:C34383, NORD:1714, OMIM:603903] +synonym: "sickle cell disease" EXACT [DOID:0081445, NCIT:C34383, NORD:1714, OMIM:603903] synonym: "sickle-cell/Hb-C disease without crisis" EXACT [DOID:10923, ICD9CM:282.63] synonym: "sickling disorder due to Haemoglobin S" EXACT OMO:0003005 [] synonym: "sickling disorder due to Hemoglobin S" EXACT [NCIT:C34383] @@ -256541,11 +256582,11 @@ synonym: "ALPS-CASP10" EXACT [NCIT:C39576] synonym: "ALPS2A" EXACT ABBREVIATION [DOID:0110115, MONDO:Lexical, OMIM:603909] synonym: "autoimmune lymphoproliferative syndrome caused by mutation in CASP10" EXACT [MONDO:design_pattern] synonym: "autoimmune lymphoproliferative syndrome type IIA" EXACT [DOID:0110115] -synonym: "autoimmune lymphoproliferative syndrome, type 2" RELATED [OMIM:603909] -synonym: "autoimmune lymphoproliferative syndrome, type 2A" RELATED [OMIM:603909] -synonym: "autoimmune lymphoproliferative syndrome, type II" EXACT [OMIM:603909, OMIM:genemap2] -synonym: "autoimmune lymphoproliferative syndrome, type IIA" RELATED [MONDO:Lexical, OMIM:603909] -synonym: "autoimmune lymphoproliferative syndrome-CASP10 variant" EXACT [NCIT:C39576] +synonym: "autoimmune lymphoproliferative syndrome, type 2" RELATED [] +synonym: "autoimmune lymphoproliferative syndrome, type 2A" RELATED [] +synonym: "autoimmune lymphoproliferative syndrome, type II" EXACT [] +synonym: "autoimmune lymphoproliferative syndrome, type IIA" RELATED [MONDO:Lexical] +synonym: "autoimmune lymphoproliferative syndrome-CASP10 variant" EXACT [] synonym: "CASP10 autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "type 2 ALPS" EXACT [NCIT:C39576] synonym: "type 2 autoimmune lymphoproliferative syndrome" EXACT [NCIT:C39576] @@ -256569,8 +256610,8 @@ id: MONDO:0011384 name: hypertension, essential, susceptibility to, 1 subset: predisposition synonym: "hypertension, essential, susceptibility to, 1" EXACT [OMIM:603918] -synonym: "hypertension, essential, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:603918] -synonym: "Hyt1" RELATED [OMIM:603918] +synonym: "hypertension, essential, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "Hyt1" RELATED [] xref: MEDGEN:395143 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:603918 {source="MONDO:equivalentTo"} xref: UMLS:C1858967 {source="MONDO:equivalentTo", source="MEDGEN:395143", source="MONDO:MEDGEN"} @@ -256586,26 +256627,26 @@ name: intervertebral disk degenerative disorder def: "Any disease of a degenerative nature that affects the intervertebral disk." [NCIT:C26983] subset: otar {source="MONDO:OTAR"} synonym: "cervical disc degenerative disease" NARROW OMO:0003005 [] -synonym: "cervical disk degenerative disease" NARROW [DOID:90, NCIT:C27156] -synonym: "degenerative disc disease" EXACT OMO:0003005 [] -synonym: "degenerative disk disease" EXACT [DOID:90] +synonym: "cervical disk degenerative disease" NARROW [] +synonym: "degenerative disc disease" EXACT OMO:0003005 [DOID:90] +synonym: "degenerative disk disease" EXACT [] synonym: "degenerative disorder of intervertebral disc" EXACT OMO:0003005 [] synonym: "degenerative disorder of intervertebral disk" EXACT [MONDO:design_pattern] synonym: "IDD" EXACT ABBREVIATION [OMIM:603932] -synonym: "intervertebral Disc Degeneration" EXACT [NCIT:C26983] -synonym: "intervertebral disc degeneration" EXACT OMO:0003005 [] +synonym: "intervertebral Disc Degeneration" EXACT [DOID:90, NCIT:C26983] +synonym: "intervertebral disc degeneration" EXACT OMO:0003005 [DOID:90, NCIT:C26983] synonym: "intervertebral Disc degenerative disease" EXACT [NCIT:C26983] synonym: "intervertebral Disc degenerative disorder" EXACT [NCIT:C26983] -synonym: "intervertebral disc disease" EXACT OMO:0003005 [] -synonym: "intervertebral disk degeneration" EXACT [DOID:90] +synonym: "intervertebral disc disease" EXACT OMO:0003005 [OMIM:603932] +synonym: "intervertebral disk degeneration" EXACT [] synonym: "intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "intervertebral disk disease" EXACT [MONDO:Lexical, OMIM:603932] +synonym: "intervertebral disk disease" EXACT [MONDO:Lexical] synonym: "lumbar disc degeneration" NARROW OMO:0003005 [] -synonym: "lumbar disk degeneration" NARROW [DOID:90] +synonym: "lumbar disk degeneration" NARROW [] synonym: "vertebral Disc degenerative disease" EXACT [NCIT:C26983] synonym: "vertebral Disc degenerative disorder" EXACT [NCIT:C26983] -synonym: "vertebral disc disease" EXACT OMO:0003005 [] -synonym: "vertebral disk disease" EXACT [DOID:90] +synonym: "vertebral disc disease" EXACT OMO:0003005 [DOID:90] +synonym: "vertebral disk disease" EXACT [] xref: DOID:90 {source="EFO:0004994", source="MONDO:equivalentTo"} xref: EFO:0004994 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:722.6 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -256627,18 +256668,18 @@ id: MONDO:0011386 name: microvascular complications of diabetes, susceptibility to, 1 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:603933] -synonym: "microvascular complications of diabetes 1" EXACT [OMIM:603933, OMIM:genemap2] -synonym: "microvascular complications of diabetes, protection against" RELATED [OMIM:603933] +synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [] +synonym: "microvascular complications of diabetes 1" EXACT [] +synonym: "microvascular complications of diabetes, protection against" RELATED [] synonym: "microvascular complications of diabetes, susceptibility caused by mutation in VEGFA" EXACT [MONDO:design_pattern] -synonym: "microvascular complications of diabetes, susceptibility to" RELATED [OMIM:603933] +synonym: "microvascular complications of diabetes, susceptibility to" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:603933] -synonym: "microvascular complications of diabetes, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:603933] -synonym: "MVCD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603933] -synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:603933] -synonym: "neuropathy, diabetic, susceptibility to" RELATED [OMIM:603933] -synonym: "nonproliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:603933] -synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:603933] +synonym: "microvascular complications of diabetes, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "MVCD1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nephropathy, diabetic, susceptibility to" RELATED [] +synonym: "neuropathy, diabetic, susceptibility to" RELATED [] +synonym: "nonproliferative retinopathy, diabetic, susceptibility to" RELATED [] +synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [] synonym: "VEGFA microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:382957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:603933 {source="MONDO:equivalentTo"} @@ -256653,8 +256694,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011387 name: psoriasis 4, susceptibility to synonym: "psoriasis 4, susceptibility to" EXACT [MONDO:Lexical, OMIM:603935] -synonym: "psoriasis susceptibility 4" EXACT [OMIM:603935, OMIM:genemap2] -synonym: "PSORS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:603935] +synonym: "psoriasis susceptibility 4" EXACT [] +synonym: "PSORS4" EXACT ABBREVIATION [DOID:0111280, MONDO:Lexical, OMIM:603935] xref: DOID:0111280 {source="MONDO:equivalentTo"} xref: MEDGEN:347765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:603935 {source="MONDO:equivalentTo"} @@ -256668,7 +256709,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011388 name: obsolete cervical cancer -synonym: "cervical cancer" RELATED [OMIM:603956] +synonym: "cervical cancer" RELATED [] is_obsolete: true [Term] @@ -256678,11 +256719,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18110", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 16" NARROW [DOID:0110547] -synonym: "autosomal dominant nonsyndromic deafness 16" NARROW [OMIM:603964] -synonym: "autosomal dominant nonsyndromic deafness type 16" NARROW [DOID:0110547, MONDORULE:2] -synonym: "deafness, autosomal dominant 16" NARROW [MONDO:Lexical, OMIM:603964, OMIM:genemap2] -synonym: "DFNA16" NARROW ABBREVIATION [DOID:0110547, MONDO:Lexical, OMIM:603964] +synonym: "autosomal dominant deafness 16" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 16" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 16" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 16" NARROW [MONDO:Lexical] +synonym: "DFNA16" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110547 {source="MONDO:equivalentTo"} xref: GARD:18110 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110547"} @@ -256701,11 +256742,11 @@ def: "Any focal segmental glomerulosclerosis in which the cause of the disease i subset: gard_rare {source="GARD:15362", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "focal segmental glomerulosclerosis 2" EXACT [MONDO:Lexical, OMIM:603965] +synonym: "focal segmental glomerulosclerosis 2" EXACT [DOID:0111129, MONDO:Lexical, OMIM:603965] synonym: "focal segmental glomerulosclerosis caused by mutation in TRPC6" EXACT [MONDO:design_pattern] -synonym: "focal segmental glomerulosclerosis type 2" EXACT [DOID:0111129, MONDORULE:1, OMIM:603965] +synonym: "focal segmental glomerulosclerosis type 2" EXACT [MONDORULE:1] synonym: "FSGS2" EXACT ABBREVIATION [DOID:0111129, MONDO:Lexical, OMIM:603965] -synonym: "glomerulosclerosis, focal segmental, 2" RELATED [OMIM:603965] +synonym: "glomerulosclerosis, focal segmental, 2" RELATED [] synonym: "TRPC6 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111129 {source="MONDO:equivalentTo"} xref: GARD:15362 {source="MONDO:GARD"} @@ -256730,13 +256771,13 @@ subset: orphanet_rare {source="Orphanet:2478"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "megalencephalic leukodystrophy" EXACT [Orphanet:2478] -synonym: "megalencephalic leukoencephalopathy with subcortical cysts 1" RELATED [MONDO:Lexical, OMIM:604004] -synonym: "megalencephalic leukoencephalopathy with subcortical cysts type 1" EXACT [MONDORULE:1, OMIM:604004] +synonym: "megalencephalic leukoencephalopathy with subcortical cysts 1" RELATED [MONDO:Lexical] +synonym: "megalencephalic leukoencephalopathy with subcortical cysts type 1" EXACT [MONDORULE:1] synonym: "megalencephaly-cystic leukodystrophy" RELATED [GARD:0003445] synonym: "megalencephaly-cystic leukodystrophy syndrome" EXACT [Orphanet:2478] synonym: "MLC" EXACT ABBREVIATION [Orphanet:2478] -synonym: "MLC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604004] -synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" EXACT [Orphanet:2478] +synonym: "MLC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" EXACT [DOID:0080315, Orphanet:2478] synonym: "Van der Knaap syndrome" EXACT [Orphanet:2478] xref: DOID:0080315 {source="MONDO:equivalentTo"} xref: GARD:3445 {source="MONDO:GARD"} @@ -256759,11 +256800,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22598", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 20" NARROW [DOID:0110478] -synonym: "autosomal recessive nonsyndromic deafness 20" NARROW [OMIM:604060] -synonym: "autosomal recessive nonsyndromic deafness type 20" NARROW [DOID:0110478, MONDORULE:2] -synonym: "deafness, autosomal recessive 20" NARROW [MONDO:Lexical, OMIM:604060, OMIM:genemap2] -synonym: "DFNB20" NARROW ABBREVIATION [DOID:0110478, MONDO:Lexical, OMIM:604060] +synonym: "autosomal recessive deafness 20" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 20" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 20" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 20" NARROW [MONDO:Lexical] +synonym: "DFNB20" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110478 {source="MONDO:equivalentTo"} xref: GARD:22598 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110478"} @@ -256783,15 +256824,15 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial HDL deficiency" RELATED [GARD:0002872, OMIM:604091] +synonym: "familial HDL deficiency" RELATED [GARD:0002872] synonym: "FHA" RELATED ABBREVIATION [GARD:0002872] synonym: "FHD" RELATED ABBREVIATION [GARD:0002872] -synonym: "HDL cholesterol, Low serum" RELATED [OMIM:604091] -synonym: "HDL deficiency, familial, 1" EXACT [OMIM:604091, OMIM:genemap2] +synonym: "HDL cholesterol, Low serum" RELATED [] +synonym: "HDL deficiency, familial, 1" EXACT [] synonym: "HDLD" RELATED ABBREVIATION [GARD:0002872] -synonym: "high density lipoprotein deficiency" RELATED [OMIM:604091] +synonym: "high density lipoprotein deficiency" RELATED [] synonym: "hypoalphalipoproteinemia, familial" EXACT [OMIM:604091] -synonym: "hypoalphalipoproteinemia, primary" RELATED [OMIM:604091] +synonym: "hypoalphalipoproteinemia, primary" RELATED [] xref: DOID:0080957 {source="MONDO:equivalentTo"} xref: MEDGEN:1684828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D052456 @@ -256817,9 +256858,9 @@ subset: gard_rare {source="GARD:10653", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ABCA4 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cone-rod dystrophy 3" EXACT [MONDO:Lexical, OMIM:604116] +synonym: "cone-rod dystrophy 3" EXACT [DOID:0111013, MONDO:Lexical, OMIM:604116] synonym: "cone-rod dystrophy caused by mutation in ABCA4" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 3" EXACT [DOID:0111013, MONDORULE:1, OMIM:604116] +synonym: "cone-rod dystrophy type 3" EXACT [MONDORULE:1] synonym: "CORD3" EXACT ABBREVIATION [DOID:0111013, MONDO:Lexical, OMIM:604116] xref: DOID:0111013 {source="MONDO:equivalentTo"} xref: GARD:10653 {source="MONDO:GARD"} @@ -256849,9 +256890,9 @@ synonym: "Camisa disease" EXACT [Orphanet:79395] synonym: "keratoderma hereditarium mutilans with ichthyosis" EXACT [Orphanet:79395] synonym: "keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome" EXACT [Orphanet:79395] synonym: "loricrin keratoderma" EXACT [OMIM:604117, Orphanet:79395] -synonym: "mutilating keratoderma with ichthyosis" RELATED [OMIM:604117] +synonym: "mutilating keratoderma with ichthyosis" RELATED [] synonym: "Vohwinkel syndrome with ichthyosis" EXACT [OMIM:604117, Orphanet:79395] -synonym: "Vohwinkel syndrome, variant form" RELATED [OMIM:604117] +synonym: "Vohwinkel syndrome, variant form" RELATED [] xref: GARD:16719 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:79395", source="Orphanet:79395/attributed", source="Orphanet:79395/ntbt"} xref: MEDGEN:395099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -256881,11 +256922,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ADCA-DN" RELATED [GARD:0012372] synonym: "ADCA-DN syndrome" EXACT [Orphanet:314404] -synonym: "ADCADN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604121] -synonym: "autosomal dominant cerebellar ataxia, deafness and narcolepsy" EXACT CLINGEN_LABEL [] +synonym: "ADCADN" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "autosomal dominant cerebellar ataxia, deafness and narcolepsy" EXACT CLINGEN_LABEL [DOID:0050968] synonym: "autosomal dominant cerebellar ataxia, deafness, and narcolepsy" RELATED [GARD:0012372] synonym: "autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome" RELATED [GARD:0012372] -synonym: "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604121] +synonym: "cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" RELATED [MONDO:Lexical] xref: DOID:0050968 {source="MONDO:equivalentTo"} xref: GARD:12372 {source="MONDO:GARD"} xref: MEDGEN:813625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -256909,11 +256950,11 @@ subset: ordo_disorder {source="Orphanet:89843"} subset: orphanet_rare {source="Orphanet:89843"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEB, pruriginosa" EXACT [Orphanet:89843] -synonym: "Deb, pruriginosa" RELATED [OMIM:604129] +synonym: "DEB, pruriginosa" EXACT [OMIM:604129] +synonym: "Deb, pruriginosa" RELATED [] synonym: "DEB-Pr" EXACT [Orphanet:89843] -synonym: "dystrophic epidermolysis bullosa pruriginosa" EXACT [OMIM:604129] -synonym: "epidermolysis bullosa pruriginosa" RELATED [OMIM:604129] +synonym: "dystrophic epidermolysis bullosa pruriginosa" EXACT [OMIM:604129, Orphanet:89843] +synonym: "epidermolysis bullosa pruriginosa" RELATED [] synonym: "pruriginous dystrophic epidermolysis bullosa" EXACT [Orphanet:89843] xref: GARD:16779 {source="MONDO:GARD"} xref: ICD10CM:Q81.2 {source="Orphanet:89843/attributed", source="Orphanet:89843/ntbt", source="Orphanet:89843"} @@ -256939,12 +256980,12 @@ subset: orphanet_rare {source="Orphanet:846"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "A-thalassemia" RELATED [GARD:0000621] -synonym: "alpha thalassaemia" EXACT [DOID:1099] +synonym: "alpha thalassaemia" EXACT [DOID:1099, icd11.foundation:531667506] synonym: "alpha thalassemia spectrum" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/] -synonym: "alpha-thalassemia" EXACT [DOID:1099] +synonym: "alpha-thalassemia" EXACT [DOID:1099, OMIM:604131, Orphanet:846] synonym: "alpha-thalassemia trait" RELATED [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/] -synonym: "thalassemia, alpha-" EXACT [OMIM:604131, OMIM:genemap2] -synonym: "thalassemias, alpha-" EXACT [OMIM:604131, OMIM:genemap2] +synonym: "thalassemia, alpha-" EXACT [] +synonym: "thalassemias, alpha-" EXACT [] xref: DOID:1099 {source="MONDO:equivalentTo"} xref: GARD:621 {source="MONDO:GARD"} xref: ICD10CM:D56.0 {source="DOID:1099", source="MONDO:equivalentTo", source="Orphanet:846", source="Orphanet:846/specific", source="Orphanet:846/e"} @@ -256975,10 +257016,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15363", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1G" RELATED [MONDO:Lexical, OMIM:604145] -synonym: "cardiomyopathy, dilated, type 1G" EXACT [MONDORULE:4, OMIM:604145] +synonym: "cardiomyopathy, dilated, 1G" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1G" EXACT [MONDORULE:4] synonym: "CMD1G" EXACT ABBREVIATION [DOID:0110430, MONDO:Lexical, OMIM:604145] -synonym: "dilated cardiomyopathy type 1G" EXACT [DOID:0110430, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1G" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in TTN" EXACT [MONDO:design_pattern] synonym: "TTN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110430 {source="MONDO:equivalentTo"} @@ -256999,12 +257040,12 @@ id: MONDO:0011401 name: Alzheimer disease without neurofibrillary tangles subset: gard_rare {source="GARD:7190", source="MONDO:GARD"} subset: rare -synonym: "AD15" EXACT ABBREVIATION [DOID:0110048, MONDO:Lexical, OMIM:611155] -synonym: "Alzheimer disease 15" EXACT [DOID:0110048, MONDO:Lexical, OMIM:611155] +synonym: "AD15" EXACT ABBREVIATION [DOID:0110048, MONDO:Lexical, OMIM:604154] +synonym: "Alzheimer disease 15" EXACT [DOID:0110048, MONDO:Lexical, OMIM:604154] synonym: "Alzheimer disease without neurofibrillary tangles" EXACT [OMIM:604154] -synonym: "Alzheimer disease-15" EXACT [OMIM:611155, OMIM:genemap2] -synonym: "Alzheimer's disease 15" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 15" EXACT [DOID:0110048, MONDORULE:2] +synonym: "Alzheimer disease-15" EXACT [] +synonym: "Alzheimer's disease 15" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110048, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 15" EXACT [MONDORULE:2] synonym: "Alzheimer's disease without neurofibrillary tangles" RELATED [GARD:0007190] xref: DOID:0110048 {source="MONDO:equivalentTo"} xref: GARD:7190 {source="MONDO:GARD"} @@ -257031,10 +257072,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:48431"} subset: orphanet_rare {source="Orphanet:48431"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cataract, congenital, with Facial Dysmorphism and neuropathy" RELATED [OMIM:604168] +synonym: "cataract, congenital, with Facial Dysmorphism and neuropathy" RELATED [] synonym: "CCFDN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604168, Orphanet:48431] -synonym: "congenital cataracts, facial dysmorphism, and neuropathy" RELATED [MONDO:Lexical, OMIM:604168] -synonym: "congenital cataracts-facial dysmorphism-neuropathy syndrome" EXACT CLINGEN_LABEL [] +synonym: "congenital cataracts, facial dysmorphism, and neuropathy" RELATED [MONDO:Lexical] +synonym: "congenital cataracts-facial dysmorphism-neuropathy syndrome" EXACT CLINGEN_LABEL [Orphanet:48431] xref: GARD:16645 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:48431/attributed", source="Orphanet:48431/ntbt", source="Orphanet:48431"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -257064,11 +257105,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DTNA left ventricular noncompaction" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "left ventricular noncompaction 1" EXACT [MONDO:Lexical, OMIM:604169] -synonym: "left ventricular noncompaction 1 with or without congenital heart defects" RELATED [OMIM:604169] -synonym: "left ventricular noncompaction 1, with or without congenital heart defects" EXACT [OMIM:604169, OMIM:genemap2] +synonym: "left ventricular noncompaction 1 with or without congenital heart defects" RELATED [] +synonym: "left ventricular noncompaction 1, with or without congenital heart defects" EXACT [] synonym: "left ventricular noncompaction caused by mutation in DTNA" EXACT [MONDO:design_pattern] -synonym: "left ventricular noncompaction type 1" EXACT [MONDORULE:1, OMIM:604169] -synonym: "LVNC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604169] +synonym: "left ventricular noncompaction type 1" EXACT [MONDORULE:1] +synonym: "LVNC1" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:349005 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604169 {source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="OMIM:604169"} @@ -257083,7 +257124,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011404 name: Caronte comment: Editor note: TODO check -synonym: "Car" RELATED [OMIM:604172] +synonym: "Car" RELATED [] synonym: "Caronte" EXACT [OMIM:604172] xref: MEDGEN:349004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604172 {source="MONDO:equivalentTo"} @@ -257101,11 +257142,11 @@ subset: orphanet_rare {source="Orphanet:221046"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Clericuzio type poikiloderma with neutropenia" RELATED [GARD:0004085] -synonym: "PN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604173] -synonym: "poikiloderma with neutropenia" EXACT [MONDO:Lexical, OMIM:604173] +synonym: "PN" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "poikiloderma with neutropenia" EXACT [DOID:0060551, MONDO:Lexical, NCIT:C177535, OMIM:604173, Orphanet:221046] synonym: "poikiloderma with neutropenia Clericuzio type" RELATED [GARD:0004085] -synonym: "poikiloderma with neutropenia, Clericuzio type" EXACT [Orphanet:221046] -synonym: "poikiloderma with neutropenia, Clericuzio-type" RELATED [OMIM:604173] +synonym: "poikiloderma with neutropenia, Clericuzio type" EXACT [DOID:0060551, Orphanet:221046] +synonym: "poikiloderma with neutropenia, Clericuzio-type" RELATED [] synonym: "Prurigo Nodularis" EXACT [NORD:2022] xref: DOID:0060551 {source="MONDO:equivalentTo"} xref: GARD:4085 {source="MONDO:GARD"} @@ -257142,11 +257183,11 @@ subset: gard_rare {source="GARD:18436", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "facial paresis, hereditary congenital, 2" EXACT [MONDO:Lexical, OMIM:604185] -synonym: "HCFP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604185] -synonym: "Mobius syndrome 3" RELATED [OMIM:604185] -synonym: "Mobius syndrome 3, formerly" RELATED [OMIM:604185] -synonym: "Moebius syndrome 3" RELATED [OMIM:604185] -synonym: "Moebius syndrome 3, formerly" RELATED [OMIM:604185] +synonym: "HCFP2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Mobius syndrome 3" RELATED [] +synonym: "Mobius syndrome 3, formerly" RELATED [] +synonym: "Moebius syndrome 3" RELATED [] +synonym: "Moebius syndrome 3, formerly" RELATED [] xref: GARD:18436 {source="MONDO:GARD"} xref: MEDGEN:346971 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604185 {source="MONDO:equivalentTo"} @@ -257168,13 +257209,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia" RELATED [GARD:0009590] synonym: "autosomal dominant spastic paraplegia 10" EXACT [DOID:0110763] -synonym: "autosomal dominant spastic paraplegia type 10" EXACT [DOID:0110763] +synonym: "autosomal dominant spastic paraplegia type 10" EXACT [DOID:0110763, Orphanet:100991] synonym: "hereditary spastic paraplegia caused by mutation in KIF5A" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 10" EXACT [DOID:0110763, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 10" EXACT [MONDORULE:2] synonym: "KIF5A hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 10" RELATED [GARD:0009590] -synonym: "spastic paraplegia 10 with or without peripheral neuropathy" RELATED [OMIM:604187] -synonym: "spastic paraplegia 10, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604187] +synonym: "spastic paraplegia 10 with or without peripheral neuropathy" RELATED [] +synonym: "spastic paraplegia 10, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG10" EXACT ABBREVIATION [DOID:0110763, MONDO:Lexical, OMIM:604187, Orphanet:100991] xref: DOID:0110763 {source="MONDO:equivalentTo"} xref: GARD:9590 {source="MONDO:GARD"} @@ -257194,10 +257235,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011409 name: hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection subset: predisposition -synonym: "hepatic fibrosis susceptibility due to schistosoma mansoni infection" EXACT [OMIM:604201, OMIM:genemap2] -synonym: "hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection" RELATED [OMIM:604201] +synonym: "hepatic fibrosis susceptibility due to schistosoma mansoni infection" EXACT [] +synonym: "hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection" RELATED [] synonym: "hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection" EXACT [OMIM:604201] -synonym: "Sm2" RELATED [OMIM:604201] +synonym: "Sm2" RELATED [] xref: MEDGEN:349002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604201 {source="MONDO:equivalentTo"} xref: UMLS:C1858709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:349002"} @@ -257226,12 +257267,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:314597"} subset: orphanet_rare {source="Orphanet:314597"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Chudley-McCullough syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604213] -synonym: "CMCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604213] -synonym: "deafness, autosomal recessive 82" RELATED [OMIM:604213] -synonym: "deafness, autosomal recessive 82, formerly" RELATED [OMIM:604213] +synonym: "Chudley-McCullough syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604213, Orphanet:314597] +synonym: "CMCS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "deafness, autosomal recessive 82" RELATED [] +synonym: "deafness, autosomal recessive 82, formerly" RELATED [] synonym: "deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction" RELATED [GARD:0000086] -synonym: "deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts" RELATED [GARD:0000086, OMIM:604213] +synonym: "deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts" RELATED [GARD:0000086] xref: GARD:86 {source="MONDO:GARD"} xref: MEDGEN:347699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535459 {source="MONDO:equivalentTo"} @@ -257252,8 +257293,8 @@ subset: ordo_disorder {source="Orphanet:85110"} subset: orphanet_rare {source="Orphanet:85110"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "encephalopathy, familial, with Collins bodies" RELATED [OMIM:604218] -synonym: "encephalopathy, familial, with neuroserpin inclusion bodies" RELATED [MONDO:Lexical, OMIM:604218] +synonym: "encephalopathy, familial, with Collins bodies" RELATED [] +synonym: "encephalopathy, familial, with neuroserpin inclusion bodies" RELATED [MONDO:Lexical] synonym: "FENIB" EXACT ABBREVIATION [DOID:0050831, MONDO:Lexical, OMIM:604218, Orphanet:85110] xref: DOID:0050831 {source="MONDO:equivalentTo"} xref: GARD:10037 {source="MONDO:GARD"} @@ -257282,10 +257323,10 @@ subset: rare synonym: "autosomal recessive congenital cataract 1" NARROW [DOID:0110266] synonym: "cataract (disease) caused by mutation in CRYAA" EXACT [] synonym: "cataract 9 multiple types with or without microcornea" EXACT [DOID:0110266] -synonym: "cataract 9, multiple types" RELATED [MONDO:Lexical, OMIM:604219] -synonym: "cataract 9, multiple types, with or without microcornea" RELATED [OMIM:604219] -synonym: "cataract, autosomal dominant" RELATED [OMIM:604219] -synonym: "cataract, autosomal recessive congenital 1" RELATED [OMIM:604219] +synonym: "cataract 9, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract 9, multiple types, with or without microcornea" RELATED [] +synonym: "cataract, autosomal dominant" RELATED [] +synonym: "cataract, autosomal recessive congenital 1" RELATED [] synonym: "CATC1" NARROW ABBREVIATION [DOID:0110266] synonym: "CRYAA cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CTRCT9" EXACT ABBREVIATION [DOID:0110266, MONDO:Lexical, OMIM:604219] @@ -257317,10 +257358,10 @@ subset: ordo_morphological_anomaly {source="Orphanet:708"} subset: orphanet_rare {source="Orphanet:708"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anterior segment dysgenesis 5" RELATED [OMIM:604229] -synonym: "anterior segment dysgenesis 5, multiple subtypes" EXACT [OMIM:604229, OMIM:genemap2] -synonym: "ASGD5" RELATED ABBREVIATION [OMIM:604229] -synonym: "Peters anomaly" EXACT [MONDO:ambiguous, OMIM:604229] +synonym: "anterior segment dysgenesis 5" RELATED [] +synonym: "anterior segment dysgenesis 5, multiple subtypes" EXACT [] +synonym: "ASGD5" RELATED ABBREVIATION [] +synonym: "Peters anomaly" EXACT [DOID:0060673, icd11.foundation:1902926622, MONDO:ambiguous, Orphanet:708] synonym: "Peters anomaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Peters congenital glaucoma" EXACT [Orphanet:708] xref: DOID:0060673 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -257353,11 +257394,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "amaurosis congenita of Leber, type 3" RELATED [GARD:0009661] synonym: "LCA3" EXACT ABBREVIATION [DOID:0110331, MONDO:Lexical, OMIM:604232] -synonym: "Leber congenital amaurosis 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604232] +synonym: "Leber congenital amaurosis 3" EXACT CLINGEN_LABEL [DOID:0110331, MONDO:Lexical, OMIM:604232] synonym: "Leber congenital amaurosis caused by mutation in SPATA7" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 3" EXACT [DOID:0110331, MONDORULE:1, OMIM:604232] -synonym: "retinitis pigmentosa, juvenile, autosomal recessive" EXACT [OMIM:604232, OMIM:genemap2] -synonym: "retinitis pigmentosa, juvenile, Spata7-related" RELATED [OMIM:604232] +synonym: "Leber congenital amaurosis type 3" EXACT [MONDORULE:1] +synonym: "retinitis pigmentosa, juvenile, autosomal recessive" EXACT [] +synonym: "retinitis pigmentosa, juvenile, Spata7-related" RELATED [] synonym: "SPATA7 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110331 {source="MONDO:equivalentTo"} xref: GARD:9661 {source="MONDO:GARD"} @@ -257381,8 +257422,8 @@ name: generalized epilepsy with febrile seizures plus, type 1 def: "A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11." [DOID:0111302] subset: gard_rare {source="GARD:18659", source="MONDO:GARD"} subset: rare -synonym: "Gefs+, type 1" RELATED [OMIM:604233] -synonym: "GEFSP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604233] +synonym: "Gefs+, type 1" RELATED [] +synonym: "GEFSP1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "generalized epilepsy with febrile seizures plus, type 1" EXACT [MONDO:Lexical, OMIM:604233] xref: DOID:0111302 {source="MONDO:equivalentTo"} xref: GARD:18659 {source="MONDO:GARD"} @@ -257404,9 +257445,9 @@ subset: ordo_disorder {source="Orphanet:225123"} subset: orphanet_rare {source="Orphanet:225123"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hemochromatosis due to defect in transferrin receptor 2" EXACT [DOID:0111030, OMIM:604250] -synonym: "hemochromatosis type 3" EXACT CLINGEN_LABEL [] -synonym: "hemochromatosis, type 3" RELATED [MONDO:Lexical, OMIM:604250] +synonym: "hemochromatosis due to defect in transferrin receptor 2" EXACT [DOID:0111030] +synonym: "hemochromatosis type 3" EXACT CLINGEN_LABEL [DOID:0111030] +synonym: "hemochromatosis, type 3" RELATED [MONDO:Lexical] synonym: "hereditary hemochromatosis caused by mutation in TFR2" EXACT [MONDO:design_pattern] synonym: "HFE3" EXACT ABBREVIATION [DOID:0111030, MONDO:Lexical, OMIM:604250] synonym: "TFR2 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -257464,11 +257505,11 @@ subset: ordo_disorder {source="Orphanet:314802"} subset: orphanet_rare {source="Orphanet:314802"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GHIP" RELATED ABBREVIATION [MESH:C565805, MONDO:Lexical, OMIM:604271] +synonym: "GHIP" RELATED ABBREVIATION [MESH:C565805, MONDO:Lexical] synonym: "Growth hormone deficiency, isolated, partial" RELATED [MESH:C565805] -synonym: "growth hormone insensitivity, partial" RELATED [MESH:C565805, MONDO:Lexical, OMIM:604271] +synonym: "growth hormone insensitivity, partial" RELATED [MESH:C565805, MONDO:Lexical] synonym: "Growth hormone, insensitivity to, partial" RELATED [MESH:C565805] -synonym: "increased responsiveness to Growth hormone" RELATED [OMIM:604271] +synonym: "increased responsiveness to Growth hormone" RELATED [] synonym: "short stature due to partial growth hormone receptor deficiency" EXACT [Orphanet:314802] xref: GARD:17435 {source="MONDO:GARD"} xref: ICD10CM:E34.3 {source="Orphanet:314802", source="Orphanet:314802/attributed", source="Orphanet:314802/ntbt"} @@ -257490,9 +257531,9 @@ subset: rare synonym: "ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Complex 5 mitochondrial respiratory chain deficiency" RELATED [GARD:0001459] synonym: "MC5DN1" EXACT ABBREVIATION [DOID:0050768, MONDO:Lexical, OMIM:604273] -synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type" RELATED [OMIM:604273] -synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1" RELATED [OMIM:604273] -synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604273] +synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type" RELATED [] +synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1" RELATED [] +synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" EXACT CLINGEN_LABEL [MONDO:Lexical] synonym: "mitochondrial complex V deficiency" BROAD [GARD:0001459] synonym: "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2" EXACT [MONDO:design_pattern] xref: DOID:0050768 {source="MONDO:equivalentTo"} @@ -257521,10 +257562,10 @@ subset: rare synonym: "AR pRTA" EXACT [Orphanet:93607] synonym: "proximal renal tubular acidosis with ocular abnormalities and intellectual disability" EXACT [Orphanet:93607] synonym: "proximal renal tubular acidosis, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -synonym: "renal tubular acidosis, proximal, with ocular abnormalities" EXACT [OMIM:604278, OMIM:genemap2] -synonym: "renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability" RELATED [OMIM:604278] -synonym: "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation" RELATED DEPRECATED [OMIM:604278] -synonym: "RTA, proximal, autosomal recessive" RELATED [OMIM:604278] +synonym: "renal tubular acidosis, proximal, with ocular abnormalities" EXACT [] +synonym: "renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability" RELATED [] +synonym: "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation" RELATED DEPRECATED [] +synonym: "RTA, proximal, autosomal recessive" RELATED [] xref: GARD:16826 {source="MONDO:GARD"} xref: MEDGEN:370883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567038 {source="MONDO:equivalentTo"} @@ -257549,19 +257590,19 @@ subset: orphanet_rare {source="Orphanet:119"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive limb-girdle muscular dystrophy type 2E" EXACT [Orphanet:119] +synonym: "autosomal recessive limb-girdle muscular dystrophy type 2E" EXACT [DOID:0110279, Orphanet:119] synonym: "beta-sarcoglycan limb-girdle muscular dystrophy" RELATED [GARD:0003851] synonym: "beta-sarcoglycan-related LGMD R4" EXACT [Orphanet:119] synonym: "beta-sarcoglycan-related limb-girdle muscular dystrophy R4" EXACT [Orphanet:119] -synonym: "beta-sarcoglycanopathy" BROAD [DOID:0110279, Orphanet:119] +synonym: "beta-sarcoglycanopathy" BROAD [] synonym: "LGMD due to beta-sarcoglycan deficiency" EXACT [Orphanet:119] synonym: "LGMD type 2E" EXACT [Orphanet:119] -synonym: "LGMD2E" EXACT ABBREVIATION [DOID:0110279, MONDO:Lexical, OMIM:604286, Orphanet:119] +synonym: "LGMD2E" EXACT ABBREVIATION [DOID:0110279, MONDO:Lexical, Orphanet:119] synonym: "LGMDR4" EXACT ABBREVIATION [OMIM:604286] synonym: "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" EXACT [DOID:0110279, Orphanet:119] synonym: "limb-girdle muscular dystrophy type 2E" EXACT [GARD:0003851, Orphanet:119] synonym: "muscular dystrophy limb-girdle with beta-sarcoglycan deficiency" RELATED [GARD:0003851] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 4" EXACT [OMIM:604286, OMIM:genemap2] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 4" EXACT [OMIM:604286] synonym: "muscular dystrophy, limb-girdle, type 2E" EXACT [DOID:0110279, MONDO:Lexical, OMIM:604286] synonym: "SGCB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110279 {source="MONDO:equivalentTo"} @@ -257591,8 +257632,8 @@ subset: ordo_disorder {source="Orphanet:139411"} subset: orphanet_rare {source="Orphanet:139411"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Carney triad" EXACT [OMIM:604287] -synonym: "gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" RELATED [OMIM:604287] +synonym: "Carney triad" EXACT [icd11.foundation:1771169701, NCIT:C94833, OMIM:604287, Orphanet:139411] +synonym: "gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma" RELATED [] xref: GARD:10924 {source="MONDO:GARD"} xref: ICD10CM:D44.8 {source="Orphanet:139411/attributed", source="Orphanet:139411/ntbt", source="Orphanet:139411"} xref: icd11.foundation:1771169701 {source="MONDO:equivalentTo"} @@ -257618,10 +257659,10 @@ def: "A dilated cardiomyopathy that has material basis in variation in the chrom subset: gard_rare {source="GARD:15365", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1H" RELATED [MONDO:Lexical, OMIM:604288] -synonym: "cardiomyopathy, dilated, with conduction defect" RELATED [OMIM:604288] -synonym: "CMD1H" EXACT ABBREVIATION [DOID:0110429, MONDO:Lexical, OMIM:604288] -synonym: "dilated cardiomyopathy type 1H" EXACT [DOID:0110429, MONDORULE:4] +synonym: "cardiomyopathy, dilated, 1H" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, with conduction defect" RELATED [] +synonym: "CMD1H" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604288] +synonym: "dilated cardiomyopathy type 1H" EXACT [MONDORULE:4] synonym: "dilated cardiomyopathy with conduction defect" EXACT [DOID:0110429] xref: DOID:0110429 {source="MONDO:equivalentTo"} xref: GARD:15365 {source="MONDO:GARD"} @@ -257643,14 +257684,14 @@ subset: ordo_disorder {source="Orphanet:48818"} subset: orphanet_rare {source="Orphanet:48818"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aceruloplasminemia" EXACT CLINGEN_LABEL [OMIM:604290] -synonym: "cerebellar ataxia" BROAD [OMIM:604290, OMIM:genemap2] -synonym: "ceruloplasmin deficiency" RELATED [OMIM:604290] +synonym: "aceruloplasminemia" EXACT CLINGEN_LABEL [DOID:0050711, OMIM:604290, Orphanet:48818] +synonym: "cerebellar ataxia" BROAD [] +synonym: "ceruloplasmin deficiency" RELATED [] synonym: "familial apoceruloplasmin deficiency" RELATED [GARD:0009499] -synonym: "hemosiderosis, systemic, due to aceruloplasminemia" RELATED [OMIM:604290] +synonym: "hemosiderosis, systemic, due to aceruloplasminemia" RELATED [] synonym: "hereditary ceruloplasmin deficiency" EXACT [Orphanet:48818] -synonym: "hypoceruloplasminemia" RELATED [OMIM:604290] -synonym: "hypoceruloplasminemia, hereditary" EXACT [OMIM:604290, OMIM:genemap2] +synonym: "hypoceruloplasminemia" RELATED [] +synonym: "hypoceruloplasminemia, hereditary" EXACT [] synonym: "systemic hemosiderosis due to aceruloplasminemia" RELATED [GARD:0009499] xref: DOID:0050711 {source="MONDO:equivalentTo"} xref: GARD:9499 {source="MONDO:GARD"} @@ -257680,7 +257721,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9499/acerulo id: MONDO:0011427 name: Ascaris lumbricoides infection, susceptibility to subset: predisposition -synonym: "ascariasis, susceptibility to" RELATED [OMIM:604291] +synonym: "ascariasis, susceptibility to" RELATED [] synonym: "Ascaris lumbricoides infection, susceptibility to" EXACT [OMIM:604291] xref: MEDGEN:347671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604291 {source="MONDO:equivalentTo"} @@ -257698,9 +257739,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3" EXACT [DOID:0060783, MONDORULE:1] -synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3" RELATED [MONDO:Lexical, OMIM:604292] -synonym: "ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3" EXACT [MONDORULE:1, OMIM:604292] +synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3" EXACT [MONDORULE:1] +synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3" RELATED [MONDO:Lexical] +synonym: "ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3" EXACT [MONDORULE:1] synonym: "EEC syndrome 3" EXACT [DOID:0060783, OMIM:604292] synonym: "EEC syndrome caused by mutation in TP63" EXACT [MONDO:design_pattern] synonym: "EEC3" EXACT ABBREVIATION [DOID:0060783, MONDO:Lexical, OMIM:604292] @@ -257730,20 +257771,20 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:808"} subset: ordo_group_of_disorders {source="Orphanet:92"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acute juvenile rheumatoid arthritis" NARROW [DOID:676] +synonym: "acute juvenile rheumatoid arthritis" NARROW [] synonym: "Arthritis, Juvenile Rheumatoid" EXACT [NORD:808] synonym: "JIA" EXACT ABBREVIATION [NCIT:C114357] -synonym: "juvenile chronic arthritis" RELATED [Orphanet:92] -synonym: "juvenile chronic polyarthritis" RELATED [DOID:676] -synonym: "Juvenile idiopathic arthritis" EXACT [NCIT:C114357] -synonym: "juvenile idiopathic arthritis" EXACT [DOID:676] -synonym: "juvenile rheumatoid arthritis" EXACT DEPRECATED [Orphanet:92] -synonym: "monarticular juvenile rheumatoid arthritis" NARROW [DOID:676] -synonym: "pauciarticular juvenile arthritis" NARROW [DOID:676] -synonym: "pauciarticular onset juvenile chronic arthritis" NARROW [DOID:676] -synonym: "rheumatoid arthritis, systemic juvenile" RELATED [OMIM:604302] -synonym: "rheumatoid arthritis, systemic juvenile, susceptibility to" EXACT [OMIM:604302, OMIM:genemap2] -synonym: "systemic juvenile rheumatoid arthritis" NARROW [DOID:676, OMIM:604302] +synonym: "juvenile chronic arthritis" RELATED [] +synonym: "juvenile chronic polyarthritis" RELATED [] +synonym: "Juvenile idiopathic arthritis" EXACT [DOID:676, icd11.foundation:1322678686, NCIT:C114357, Orphanet:92] +synonym: "juvenile idiopathic arthritis" EXACT [DOID:676, icd11.foundation:1322678686, NCIT:C114357, Orphanet:92] +synonym: "juvenile rheumatoid arthritis" EXACT DEPRECATED [DOID:676, Orphanet:92] +synonym: "monarticular juvenile rheumatoid arthritis" NARROW [] +synonym: "pauciarticular juvenile arthritis" NARROW [] +synonym: "pauciarticular onset juvenile chronic arthritis" NARROW [] +synonym: "rheumatoid arthritis, systemic juvenile" RELATED [] +synonym: "rheumatoid arthritis, systemic juvenile, susceptibility to" EXACT [] +synonym: "systemic juvenile rheumatoid arthritis" NARROW [] xref: DOID:676 {source="MONDO:equivalentTo"} xref: EFO:0002609 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:18677 {source="MONDO:GARD"} @@ -257798,8 +257839,8 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:98984"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Coppock-like cataract" EXACT [Orphanet:98984] -synonym: "dusty cataract" EXACT [Orphanet:98984] -synonym: "pulverulent cataract" EXACT [Orphanet:98984] +synonym: "dusty cataract" EXACT [icd11.foundation:1046743385, Orphanet:98984] +synonym: "pulverulent cataract" EXACT [icd11.foundation:1046743385, Orphanet:98984] xref: GARD:16884 {source="MONDO:GARD"} xref: ICD10CM:Q12.0 {source="Orphanet:98984/attributed", source="Orphanet:98984/ntbt", source="Orphanet:98984", source="DOID:0110235"} xref: icd11.foundation:1046743385 {source="MONDO:equivalentTo"} @@ -257827,7 +257868,7 @@ synonym: "MASS phenotype" EXACT [OMIM:604308] synonym: "MASS syndrome" EXACT [OMIM:604308] synonym: "Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings" RELATED [GARD:0008489] synonym: "OCTD" RELATED ABBREVIATION [GARD:0008489] -synonym: "overlap connective tissue disease" RELATED [OMIM:604308] +synonym: "overlap connective tissue disease" RELATED [] xref: GARD:8489 {source="MONDO:GARD"} xref: MEDGEN:346932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536030 {source="MONDO:equivalentTo"} @@ -257849,11 +257890,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:293725"} subset: orphanet_rare {source="Orphanet:293725"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "blepharophimosis with facial and genital anomalies and intellectual disability" RELATED [OMIM:604314] -synonym: "blepharophimosis with facial and genital anomalies and mental retardation" RELATED DEPRECATED [OMIM:604314] +synonym: "blepharophimosis with facial and genital anomalies and intellectual disability" RELATED [] +synonym: "blepharophimosis with facial and genital anomalies and mental retardation" RELATED DEPRECATED [] synonym: "blepharophimosis-intellectual disability syndrome type V" EXACT [Orphanet:293725] -synonym: "blepharophimosis-intellectual disability syndrome, Verloes type" RELATED [OMIM:604314] -synonym: "blepharophimosis-mental retardation syndrome, Verloes type" RELATED DEPRECATED [OMIM:604314] +synonym: "blepharophimosis-intellectual disability syndrome, Verloes type" RELATED [] +synonym: "blepharophimosis-mental retardation syndrome, Verloes type" RELATED DEPRECATED [] synonym: "BMRS type V" EXACT [Orphanet:293725] synonym: "BMRS, Verloes type" EXACT [Orphanet:293725] xref: GARD:17342 {source="MONDO:GARD"} @@ -257867,7 +257908,7 @@ is_a: MONDO:0017393 {source="Orphanet:293725"} ! blepharophimosis - intellectual [Term] id: MONDO:0011433 name: anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome -synonym: "anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome" EXACT [OMIM:604315] +synonym: "anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome" EXACT [] synonym: "anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome" EXACT DEPRECATED [OMIM:604315] xref: MEDGEN:388087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565796 {source="MONDO:equivalentTo"} @@ -257879,8 +257920,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011434 name: psoriasis 5, susceptibility to synonym: "psoriasis 5, susceptibility to" EXACT [MONDO:Lexical, OMIM:604316] -synonym: "psoriasis susceptibility 5" EXACT [OMIM:604316, OMIM:genemap2] -synonym: "PSORS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604316] +synonym: "psoriasis susceptibility 5" EXACT [] +synonym: "PSORS5" EXACT ABBREVIATION [DOID:0111282, MONDO:Lexical, OMIM:604316] xref: DOID:0111282 {source="MONDO:equivalentTo"} xref: MEDGEN:347660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604316 {source="MONDO:equivalentTo"} @@ -257898,7 +257939,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15366", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604317] +synonym: "MCPH2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 2, primary, autosomal recessive, with or without cortical malformations" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604317] xref: DOID:0070293 {source="MONDO:equivalentTo"} xref: GARD:15366 {source="MONDO:GARD"} @@ -257920,33 +257961,33 @@ subset: ordo_disorder {source="Orphanet:98920"} subset: orphanet_rare {source="Orphanet:98920"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive distal spinal muscular atrophy 1" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive distal spinal muscular atrophy type 1" EXACT [DOID:0111064, MONDORULE:1, Orphanet:98920] +synonym: "autosomal recessive distal spinal muscular atrophy 1" EXACT CLINGEN_LABEL [DOID:0111064] +synonym: "autosomal recessive distal spinal muscular atrophy type 1" EXACT [MONDORULE:1, Orphanet:98920] synonym: "autosomal recessive spinal muscular atrophy with respiratory distress" EXACT [DOID:0111064, Orphanet:98920] -synonym: "dHMN6" EXACT [DOID:0111064, Orphanet:98920] +synonym: "dHMN6" EXACT ABBREVIATION [DOID:0111064, Orphanet:98920] synonym: "diaphragmatic spinal muscular atrophy" EXACT [DOID:0111064, Orphanet:98920] synonym: "distal hereditary motor neuropathy type 6" EXACT [DOID:0111064, Orphanet:98920] synonym: "distal-HMN type 6" EXACT [DOID:0111064, Orphanet:98920] -synonym: "DSMA1" EXACT ABBREVIATION [DOID:0111064, MONDO:Lexical, OMIM:604320] +synonym: "DSMA1" EXACT ABBREVIATION [DOID:0111064, MONDO:Lexical, Orphanet:98920] synonym: "dSMA1" EXACT [Orphanet:98920] -synonym: "HMN 6" RELATED [OMIM:604320] +synonym: "HMN 6" RELATED [] synonym: "HMN VI" RELATED [GARD:0008592] -synonym: "Hmn6" RELATED [OMIM:604320] +synonym: "Hmn6" RELATED [] synonym: "IGHMBP2 spinal muscular atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "neuronopathy, distal hereditary motor, type 6" RELATED [OMIM:604320] +synonym: "neuronopathy, distal hereditary motor, type 6" RELATED [] synonym: "neuronopathy, distal hereditary motor, type VI" RELATED [GARD:0008592] -synonym: "neuronopathy, Severe infantile axonal, with respiratory failure" RELATED [OMIM:604320] -synonym: "severe infantile axonal neuropathy with respiratory failure" RELATED [OMIM:604320] +synonym: "neuronopathy, Severe infantile axonal, with respiratory failure" RELATED [] +synonym: "severe infantile axonal neuropathy with respiratory failure" RELATED [] synonym: "severe infantile axonal neuropathy with respiratory failure type 1" EXACT [DOID:0111064, Orphanet:98920] synonym: "SIANRF" EXACT ABBREVIATION [DOID:0111064, Orphanet:98920] synonym: "SMARD1" EXACT ABBREVIATION [DOID:0111064, Orphanet:98920] synonym: "spinal muscular atrophy caused by mutation in IGHMBP2" EXACT [MONDO:design_pattern] synonym: "Spinal Muscular Atrophy with Respiratory Distress" EXACT [NORD:1994] -synonym: "spinal muscular atrophy with respiratory distress 1" RELATED [OMIM:604320] -synonym: "spinal muscular atrophy with respiratory distress type 1" EXACT [DOID:0111064] -synonym: "spinal muscular atrophy, diaphragmatic" RELATED [OMIM:604320] -synonym: "spinal muscular atrophy, distal, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:604320] -synonym: "spinal muscular atrophy, distal, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:604320] +synonym: "spinal muscular atrophy with respiratory distress 1" RELATED [] +synonym: "spinal muscular atrophy with respiratory distress type 1" EXACT [DOID:0111064, Orphanet:98920] +synonym: "spinal muscular atrophy, diaphragmatic" RELATED [] +synonym: "spinal muscular atrophy, distal, autosomal recessive, 1" RELATED [MONDO:Lexical] +synonym: "spinal muscular atrophy, distal, autosomal recessive, type 1" EXACT [MONDORULE:1] xref: DOID:0111064 {source="MONDO:equivalentTo"} xref: GARD:8592 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:98920/attributed", source="Orphanet:98920/ntbt", source="Orphanet:98920", source="DOID:0111064"} @@ -257970,7 +258011,7 @@ name: microcephaly 4, primary, autosomal recessive subset: gard_rare {source="GARD:15367", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604321] +synonym: "MCPH4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 4, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:604321] xref: DOID:0070291 {source="MONDO:equivalentTo"} xref: GARD:15367 {source="MONDO:GARD"} @@ -257986,11 +258027,11 @@ id: MONDO:0011438 name: acne def: "An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "acne" EXACT [MONDO:ambiguous] +synonym: "acne" EXACT [DOID:6543, icd11.foundation:1892393023, MONDO:ambiguous, NCIT:C27195] synonym: "acne (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "acne varioliformis" EXACT [DOID:6543, ICD9CM:706.0] -synonym: "acne vulgaris" EXACT [DOID:6543] -synonym: "acne, adult" NARROW [OMIM:604324] +synonym: "acne vulgaris" EXACT [DOID:6543, icd11.foundation:1892393023, NCIT:C27195] +synonym: "acne, adult" NARROW [] synonym: "frontalis acne" EXACT [DOID:6543] xref: DOID:6543 {source="EFO:0003894", source="MONDO:equivalentTo"} xref: EFO:0003894 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -258028,9 +258069,9 @@ subset: ordo_disorder {source="Orphanet:98762"} subset: orphanet_rare {source="Orphanet:98762"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCA12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604326, Orphanet:98762] -synonym: "spinocerebellar ataxia 12" RELATED [MONDO:Lexical, OMIM:604326] -synonym: "spinocerebellar ataxia type 12" EXACT [MONDORULE:2, OMIM:604326] +synonym: "SCA12" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C154316, OMIM:604326, Orphanet:98762] +synonym: "spinocerebellar ataxia 12" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 12" EXACT [DOID:0050962, icd11.foundation:1210063722, MONDORULE:2, NCIT:C154316, Orphanet:98762] xref: DOID:0050962 {source="MONDO:equivalentTo"} xref: GARD:10476 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:98762", source="Orphanet:98762/attributed", source="Orphanet:98762/ntbt"} @@ -258050,8 +258091,8 @@ id: MONDO:0011440 name: hypertension, essential, susceptibility to, 2 subset: predisposition synonym: "hypertension, essential, susceptibility to, 2" EXACT [OMIM:604329] -synonym: "hypertension, essential, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:604329] -synonym: "Hyt2" RELATED [OMIM:604329] +synonym: "hypertension, essential, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "Hyt2" RELATED [] xref: MEDGEN:388076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604329 {source="MONDO:equivalentTo"} xref: UMLS:C1858497 {source="MEDGEN:388076", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -258076,7 +258117,7 @@ synonym: "complex regional pain syndrome type 1" EXACT [Orphanet:99995] synonym: "CRPS I" EXACT [NCIT:C85042] synonym: "CRPS1" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] synonym: "reflex neurovascular dystrophy" EXACT [NCIT:C85042] -synonym: "reflex sympathetic dystrophy" EXACT [OMIM:604335, Orphanet:99995] +synonym: "reflex sympathetic dystrophy" EXACT [DOID:1811, OMIM:604335, Orphanet:99995] synonym: "reflex sympathetic dystrophy syndrome" EXACT [NCIT:C85042] synonym: "RND" EXACT ABBREVIATION [NCIT:C85042] synonym: "RSDS" EXACT ABBREVIATION [NCIT:C85042] @@ -258120,9 +258161,9 @@ subset: gard_rare {source="GARD:15368", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "advanced sleep phase syndrome caused by mutation in PER2" EXACT [MONDO:design_pattern] -synonym: "advanced sleep phase syndrome type 1" EXACT [DOID:0110011, MONDORULE:1] -synonym: "advanced sleep phase syndrome, familial, 1" RELATED [MONDO:Lexical, OMIM:604348] -synonym: "advanced sleep phase syndrome, familial, type 1" EXACT [MONDORULE:1, OMIM:604348] +synonym: "advanced sleep phase syndrome type 1" EXACT [MONDORULE:1] +synonym: "advanced sleep phase syndrome, familial, 1" RELATED [MONDO:Lexical] +synonym: "advanced sleep phase syndrome, familial, type 1" EXACT [MONDORULE:1] synonym: "familial advanced sleep phase syndrome 1" EXACT [DOID:0110011] synonym: "FASPS1" EXACT ABBREVIATION [DOID:0110011, MONDO:Lexical, OMIM:604348] synonym: "PER2 advanced sleep phase syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -258142,11 +258183,11 @@ id: MONDO:0011443 name: febrile seizures, familial, 4 def: "Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ADGRV1 febrile seizures, familial" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "convulsions, familial febrile, 4" RELATED [OMIM:604352] -synonym: "FEB4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604352] +synonym: "convulsions, familial febrile, 4" RELATED [] +synonym: "FEB4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "febrile seizures, familial caused by mutation in ADGRV1" EXACT [MONDO:design_pattern] synonym: "febrile seizures, familial, 4" EXACT [MONDO:Lexical, OMIM:604352] -synonym: "febrile seizures, familial, type 4" EXACT [MONDORULE:1, OMIM:604352] +synonym: "febrile seizures, familial, type 4" EXACT [MONDORULE:1] xref: DOID:0111305 {source="MONDO:equivalentTo"} xref: MEDGEN:347652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565788 {source="MONDO:equivalentTo"} @@ -258168,9 +258209,9 @@ subset: rare synonym: "CHN1 Duane retraction syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Duane retraction syndrome 2" EXACT [GARD:0009966, MONDO:Lexical, OMIM:604356] synonym: "Duane retraction syndrome caused by mutation in CHN1" EXACT [MONDO:design_pattern] -synonym: "Duane retraction syndrome type 2" EXACT [MONDORULE:1, OMIM:604356] +synonym: "Duane retraction syndrome type 2" EXACT [MONDORULE:1] synonym: "Duane syndrome type 2" RELATED [GARD:0009966] -synonym: "DURS2" RELATED ABBREVIATION [GARD:0009966, MONDO:Lexical, OMIM:604356] +synonym: "DURS2" RELATED ABBREVIATION [GARD:0009966, MONDO:Lexical] xref: GARD:9966 {source="MONDO:GARD"} xref: MEDGEN:196721 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604356 {source="GARD:0009966", source="MONDO:equivalentTo"} @@ -258197,19 +258238,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 11" EXACT [DOID:0110764] synonym: "autosomal recessive spastic paraplegia complicated with thin corpus callosum" EXACT [DOID:0110764] -synonym: "autosomal recessive spastic paraplegia type 11" EXACT [DOID:0110764] +synonym: "autosomal recessive spastic paraplegia type 11" EXACT [DOID:0110764, Orphanet:2822] synonym: "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" EXACT [DOID:0110764] synonym: "hereditary spastic paraplegia caused by mutation in SPG11" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia mental impairment and thin corpus callosum" RELATED [GARD:0004919] -synonym: "hereditary spastic paraplegia type 11" EXACT [DOID:0110764, MONDORULE:2] -synonym: "HSP-TCC" EXACT [DOID:0110764, OMIM:604360] +synonym: "hereditary spastic paraplegia type 11" EXACT [MONDORULE:2] +synonym: "HSP-TCC" EXACT ABBREVIATION [DOID:0110764, NCIT:C148317, OMIM:604360] synonym: "Nakamura Osame syndrome" RELATED [GARD:0004919] synonym: "Nakamura-Osame syndrome" EXACT [DOID:0110764, Orphanet:2822] synonym: "spastic paraplegia - intellectual deficit - thin corpus callosum" RELATED [GARD:0004919] synonym: "spastic paraplegia 11" RELATED [GARD:0004919] -synonym: "spastic paraplegia 11, autosomal recessive" RELATED [MONDO:Lexical, OMIM:604360] -synonym: "spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum" RELATED [OMIM:604360] -synonym: "spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum" RELATED [OMIM:604360] +synonym: "spastic paraplegia 11, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum" RELATED [] +synonym: "spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum" RELATED [] synonym: "spastic paraplegia-intellectual disability-thin corpus callosum syndrome" EXACT [DOID:0110764, Orphanet:2822] synonym: "SPG11" EXACT ABBREVIATION [DOID:0110764, MONDO:Lexical, OMIM:604360, Orphanet:2822] synonym: "SPG11 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -258261,12 +258302,12 @@ subset: orphanet_rare {source="Orphanet:79083"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial partial lipodystrophy associated with PPARG mutations" RELATED [GARD:0012600] -synonym: "familial partial lipodystrophy type 3" EXACT [Orphanet:79083] -synonym: "FPLD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604367, Orphanet:79083] -synonym: "insulin resistance, severe, digenic" RELATED [OMIM:604367, OMIM:genemap2] -synonym: "lipodystrophy, familial partial, associated with Pparg mutations" RELATED [OMIM:604367] -synonym: "lipodystrophy, familial partial, type 3" RELATED [MONDO:Lexical, OMIM:604367] -synonym: "PPARG-related FPLD" EXACT [Orphanet:79083] +synonym: "familial partial lipodystrophy type 3" EXACT [DOID:0070204, Orphanet:79083] +synonym: "FPLD3" EXACT ABBREVIATION [DOID:0070204, MONDO:Lexical, OMIM:604367, Orphanet:79083] +synonym: "insulin resistance, severe, digenic" RELATED [] +synonym: "lipodystrophy, familial partial, associated with Pparg mutations" RELATED [] +synonym: "lipodystrophy, familial partial, type 3" RELATED [MONDO:Lexical] +synonym: "PPARG-related FPLD" EXACT [DOID:0070204, Orphanet:79083] xref: DOID:0070204 {source="MONDO:equivalentTo"} xref: GARD:12600 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="Orphanet:79083/attributed", source="Orphanet:79083/ntbt", source="Orphanet:79083"} @@ -258287,10 +258328,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309334"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Salla disease" EXACT [MONDO:Lexical, OMIM:604369] -synonym: "SD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604369] +synonym: "Salla disease" EXACT [MONDO:Lexical, NCIT:C85067, OMIM:604369, Orphanet:309334] +synonym: "SD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "sialic acid storage disease" EXACT [NCIT:C85067] -synonym: "sialuria, Finnish type" RELATED [OMIM:604369] +synonym: "sialuria, Finnish type" RELATED [] xref: GARD:4754 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:309334/attributed", source="Orphanet:309334/ntbt", source="Orphanet:309334"} xref: MedDRA:10067531 {source="Orphanet:309334/e", source="Orphanet:309334"} @@ -258322,14 +258363,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: predisposition subset: rare synonym: "BRCA1 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "breast cancer, familial, susceptibility to, 1" RELATED [OMIM:604370] -synonym: "breast-ovarian cancer, familial, 1, multifactorial" EXACT [OMIM:604370, OMIM:genemap2] +synonym: "breast cancer, familial, susceptibility to, 1" RELATED [] +synonym: "breast-ovarian cancer, familial, 1, multifactorial" EXACT [] synonym: "breast-ovarian cancer, familial, susceptibility to, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604370] -synonym: "breast-ovarian cancer, familial, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:604370] -synonym: "BROVCA1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604370] +synonym: "breast-ovarian cancer, familial, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "BROVCA1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA1" EXACT [MONDO:design_pattern] -synonym: "ovarian cancer, familial, susceptibility to, 1" RELATED [OMIM:604370] -synonym: "susceptibility to familial breast-ovarian cancer 1" RELATED [OMIM:604370] +synonym: "ovarian cancer, familial, susceptibility to, 1" RELATED [] +synonym: "susceptibility to familial breast-ovarian cancer 1" RELATED [] xref: GARD:12351 {source="MONDO:GARD"} xref: MEDGEN:382914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604370 {source="MONDO:equivalentTo"} @@ -258355,11 +258396,11 @@ subset: gard_rare {source="GARD:18570", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" EXACT [MONDO:Lexical, OMIM:604377] -synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1" EXACT [MONDORULE:1, OMIM:604377] -synonym: "CEMCOX1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604377] -synonym: "cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy" RELATED [OMIM:604377] +synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1" EXACT [MONDORULE:1] +synonym: "CEMCOX1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy" RELATED [] synonym: "fatal infantile encephalocardiomyopathy caused by mutation in SCO2" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex IV deficiency, nuclear type 2" EXACT [OMIM:604377, OMIM:genemap2] +synonym: "mitochondrial complex IV deficiency, nuclear type 2" EXACT [] synonym: "SCO2 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080357 {source="MONDO:equivalentTo"} xref: GARD:18570 {source="MONDO:GARD"} @@ -258381,23 +258422,24 @@ subset: gard_rare {source="GARD:8178", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "alopecia universalis congenita, Mari type" RELATED [GARD:0008178] -synonym: "hypotrichosis 7" EXACT [MONDO:Lexical, OMIM:604379] +synonym: "hypotrichosis 7" EXACT [DOID:0110704, MONDO:Lexical, OMIM:604379] synonym: "hypotrichosis caused by mutation in LIPH" EXACT [MONDO:design_pattern] -synonym: "hypotrichosis type 7" EXACT [DOID:0110704, MONDORULE:1, OMIM:604379] -synonym: "hypotrichosis, autosomal recessive" RELATED [OMIM:604379] +synonym: "hypotrichosis type 7" EXACT [MONDORULE:1] +synonym: "hypotrichosis, autosomal recessive" RELATED [] synonym: "hypotrichosis, localized, autosomal recessive 2" EXACT [DOID:0110704, OMIM:604379] -synonym: "hypotrichosis, total, Mari type" RELATED [OMIM:604379] +synonym: "hypotrichosis, total, Mari type" RELATED [] synonym: "HYPT7" EXACT ABBREVIATION [DOID:0110704, MONDO:Lexical, OMIM:604379] -synonym: "Lah2" EXACT [DOID:0110704] +synonym: "LAH2" EXACT ABBREVIATION [DOID:0110704] +synonym: "Lah2" EXACT [] synonym: "LIPH hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Mari type alopecia universalis congenita" RELATED [GARD:0008178] synonym: "total hypotrichosis, Mari type" RELATED [GARD:0008178] -synonym: "total Mari type hypotrichosis," EXACT [DOID:0110704] -synonym: "Wh/Ht" RELATED [OMIM:604379] +synonym: "total Mari type hypotrichosis," EXACT [] +synonym: "Wh/Ht" RELATED [] synonym: "woolly hair, autosomal recessive 2 with or without hypotrichosis" EXACT OMO:0003005 [] synonym: "woolly hair, autosomal recessive 2, with or without hypotrichosis" RELATED OMO:0003005 [] -synonym: "wooly hair, autosomal recessive 2 with or without hypotrichosis" EXACT [OMIM:604379, OMIM:genemap2] -synonym: "wooly hair, autosomal recessive 2, with or without hypotrichosis" RELATED [OMIM:604379] +synonym: "wooly hair, autosomal recessive 2 with or without hypotrichosis" EXACT [] +synonym: "wooly hair, autosomal recessive 2, with or without hypotrichosis" RELATED [] xref: DOID:0110704 {source="MONDO:equivalentTo"} xref: GARD:8178 {source="MONDO:GARD"} xref: MEDGEN:322969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -258435,7 +258477,7 @@ subset: orphanet_rare {source="Orphanet:228190"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "patent arterial duct-bicuspid aortic valve-hand anomalies syndrome" EXACT [Orphanet:228190] -synonym: "patent ductus arteriosus and bicuspid aortic valve with hand anomalies" RELATED [OMIM:604381] +synonym: "patent ductus arteriosus and bicuspid aortic valve with hand anomalies" RELATED [] xref: GARD:17148 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:228190/attributed", source="Orphanet:228190/ntbt", source="Orphanet:228190"} xref: MEDGEN:346902 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -258465,10 +258507,10 @@ subset: gard_rare {source="GARD:18179", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "nephronophthisis (disease) caused by mutation in NPHP3" EXACT [] -synonym: "nephronophthisis 3" EXACT [MONDO:Lexical, OMIM:604387] -synonym: "nephronophthisis type 3" EXACT [DOID:0111114, MONDORULE:1, OMIM:604387] -synonym: "NPH3" EXACT ABBREVIATION [DOID:0111114] -synonym: "Nph3" RELATED [OMIM:604387] +synonym: "nephronophthisis 3" EXACT [DOID:0111114, MONDO:Lexical, OMIM:604387] +synonym: "nephronophthisis type 3" EXACT [MONDORULE:1] +synonym: "NPH3" EXACT ABBREVIATION [DOID:0111114, OMIM:604387] +synonym: "Nph3" RELATED [] synonym: "NPHP3" EXACT ABBREVIATION [DOID:0111114, MONDO:Lexical, OMIM:604387] synonym: "NPHP3 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0111114 {source="MONDO:equivalentTo"} @@ -258493,11 +258535,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "ataxia - telangiectasia-like disorder" EXACT [Orphanet:251347] -synonym: "ataxia-telangiectasia-like disorder 1" RELATED [MONDO:Lexical, OMIM:604391] -synonym: "ataxia-telangiectasia-like disorder type 1" EXACT [MONDORULE:1, OMIM:604391] -synonym: "ATLD" EXACT ABBREVIATION [Orphanet:251347] -synonym: "ATLD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604391] +synonym: "ataxia - telangiectasia-like disorder" EXACT [] +synonym: "ataxia-telangiectasia-like disorder 1" RELATED [MONDO:Lexical] +synonym: "ataxia-telangiectasia-like disorder type 1" EXACT [MONDORULE:1] +synonym: "ATLD" EXACT ABBREVIATION [] +synonym: "ATLD1" RELATED ABBREVIATION [MONDO:Lexical] xref: ICD10CM:G11.3 {source="Orphanet:251347/attributed", source="Orphanet:251347/ntbt", source="Orphanet:251347"} xref: icd11.foundation:242329289 {source="MONDO:equivalentTo"} xref: ICD9:334.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -258522,14 +258564,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AIPL1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "amaurosis congenita of Leber, type 4" RELATED [GARD:0009662] -synonym: "cone-rod dystrophy" BROAD [OMIM:604393, OMIM:genemap2] -synonym: "cone-rod dystrophy, Aipl1-related" RELATED [OMIM:604393] +synonym: "cone-rod dystrophy" BROAD [] +synonym: "cone-rod dystrophy, Aipl1-related" RELATED [] synonym: "LCA4" EXACT ABBREVIATION [DOID:0110332, MONDO:Lexical, OMIM:604393] -synonym: "Leber congenital amaurosis 4" EXACT [MONDO:Lexical, OMIM:604393] +synonym: "Leber congenital amaurosis 4" EXACT [DOID:0110332, MONDO:Lexical, OMIM:604393] synonym: "Leber congenital amaurosis caused by mutation in AIPL1" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 4" EXACT [DOID:0110332, MONDORULE:1, OMIM:604393] -synonym: "retinitis pigmentosa, juvenile" RELATED [OMIM:604393, OMIM:genemap2] -synonym: "retinitis pigmentosa, juvenile, Aipl1-related" RELATED [OMIM:604393] +synonym: "Leber congenital amaurosis type 4" EXACT [MONDORULE:1] +synonym: "retinitis pigmentosa, juvenile" RELATED [] +synonym: "retinitis pigmentosa, juvenile, Aipl1-related" RELATED [] xref: DOID:0110332 {source="MONDO:equivalentTo"} xref: GARD:9662 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110332"} @@ -258560,10 +258602,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arrhythmogenic right ventricular cardiomyopathy 5" EXACT [DOID:0110074, OMIM:604400] synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43" EXACT [MONDO:design_pattern] -synonym: "arrhythmogenic right ventricular dysplasia 5" EXACT CLINGEN_LABEL [] -synonym: "arrhythmogenic right ventricular dysplasia type 5" EXACT [DOID:0110074, MONDORULE:1] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 5" RELATED [MONDO:Lexical, OMIM:604400] -synonym: "arrhythmogenic right ventricular dysplasia, familial, type 5" EXACT [MONDORULE:1, OMIM:604400] +synonym: "arrhythmogenic right ventricular dysplasia 5" EXACT CLINGEN_LABEL [DOID:0110074] +synonym: "arrhythmogenic right ventricular dysplasia type 5" EXACT [MONDORULE:1] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 5" RELATED [MONDO:Lexical] +synonym: "arrhythmogenic right ventricular dysplasia, familial, type 5" EXACT [MONDORULE:1] synonym: "ARVC5" EXACT ABBREVIATION [DOID:0110074] synonym: "ARVD5" EXACT ABBREVIATION [DOID:0110074, MONDO:Lexical, OMIM:604400] synonym: "familial arrhythmogenic right ventricular dysplasia 5" EXACT [DOID:0110074] @@ -258589,8 +258631,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arrhythmogenic right ventricular cardiomyopathy 6" EXACT [DOID:0110075, OMIM:604401] -synonym: "arrhythmogenic right ventricular dysplasia type 6" EXACT [DOID:0110075, MONDORULE:1] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 6" RELATED [MONDO:Lexical, OMIM:604401] +synonym: "arrhythmogenic right ventricular dysplasia type 6" EXACT [MONDORULE:1] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 6" RELATED [MONDO:Lexical] synonym: "ARVC6" EXACT ABBREVIATION [DOID:0110075] synonym: "ARVD6" EXACT ABBREVIATION [DOID:0110075, MONDO:Lexical, OMIM:604401] synonym: "familial arrhythmogenic right ventricular dysplasia 6" EXACT [DOID:0110075] @@ -258610,9 +258652,9 @@ def: "Any febrile seizures, familial in which the cause of the disease is a muta subset: gard_rare {source="GARD:18661", source="MONDO:GARD"} subset: rare synonym: "febrile seizures, familial caused by mutation in SCN1A" EXACT [MONDO:design_pattern] -synonym: "febrile seizures, familial, 3A" RELATED [OMIM:604403] +synonym: "febrile seizures, familial, 3A" RELATED [] synonym: "GEFS+, type 2" EXACT [OMIM:604403] -synonym: "GEFSP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604403] +synonym: "GEFSP2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "generalized epilepsy with febrile seizures plus, type 2" EXACT [MONDO:Lexical, OMIM:604403] synonym: "SCN1A febrile seizures, familial" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111294 {source="MONDO:equivalentTo"} @@ -258639,13 +258681,15 @@ subset: orphanet_rare {source="Orphanet:69126"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial recurrent arthritis" EXACT [OMIM:604416, Orphanet:69126] -synonym: "fra" EXACT [Orphanet:69126] -synonym: "papa" EXACT [NCIT:C119055] -synonym: "papa syndrome" EXACT [OMIM:604416, Orphanet:69126] +synonym: "FRA" EXACT ABBREVIATION [Orphanet:69126] +synonym: "fra" EXACT [] +synonym: "PAPA" EXACT ABBREVIATION [NCIT:C119055, OMIM:604416] +synonym: "papa" EXACT [] +synonym: "papa syndrome" EXACT [DOID:0080519, OMIM:604416, Orphanet:69126] synonym: "Papas" RELATED [GARD:0009176] synonym: "pyogenic arthritis, pyoderma gangrenosum and acne" RELATED [GARD:0009176] synonym: "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" RELATED [GARD:0009176] -synonym: "pyogenic STERILE arthritis, pyoderma gangrenosum, and acne" RELATED [OMIM:604416] +synonym: "pyogenic STERILE arthritis, pyoderma gangrenosum, and acne" RELATED [] xref: DOID:0080519 {source="MONDO:equivalentTo"} xref: GARD:9176 {source="MONDO:GARD"} xref: MEDGEN:346801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -258691,8 +258735,8 @@ subset: orphanet_rare {source="Orphanet:98767"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604432, Orphanet:98767] -synonym: "spinocerebellar ataxia 11" RELATED [MONDO:Lexical, OMIM:604432] -synonym: "spinocerebellar ataxia type 11" EXACT [MONDORULE:2, OMIM:604432] +synonym: "spinocerebellar ataxia 11" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 11" EXACT [DOID:0050961, icd11.foundation:743674840, MONDORULE:2, Orphanet:98767] xref: DOID:0050961 {source="MONDO:equivalentTo"} xref: GARD:10475 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:98767/attributed", source="Orphanet:98767/ntbt", source="Orphanet:98767"} @@ -258712,9 +258756,9 @@ name: infundibulocystic basal cell carcinoma subset: gard_rare {source="GARD:9788", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "basal cell carcinoma with follicular differentiation" RELATED [OMIM:604451] -synonym: "basal cell carcinoma, infundibulocystic" RELATED [OMIM:604451] -synonym: "skin infundibulocystic basal cell carcinoma" EXACT [DOID:4279] +synonym: "basal cell carcinoma with follicular differentiation" RELATED [] +synonym: "basal cell carcinoma, infundibulocystic" RELATED [] +synonym: "skin infundibulocystic basal cell carcinoma" EXACT [DOID:4279, NCIT:C27540] xref: DOID:4279 {source="MONDO:equivalentTo"} xref: GARD:9788 {source="MONDO:GARD"} xref: MEDGEN:220984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -258737,10 +258781,10 @@ subset: orphanet_rare {source="Orphanet:603"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal myopathy, Swedish type" RELATED [GARD:0005552] -synonym: "muscular dystrophy, distal, late-onset, autosomal dominant" RELATED [OMIM:604454] -synonym: "myopathy, distal, Swedish" RELATED [OMIM:604454] +synonym: "muscular dystrophy, distal, late-onset, autosomal dominant" RELATED [] +synonym: "myopathy, distal, Swedish" RELATED [] synonym: "WDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604454, Orphanet:603] -synonym: "Welander distal myopathy" RELATED [MONDO:Lexical, OMIM:604454] +synonym: "Welander distal myopathy" RELATED [MONDO:Lexical] synonym: "Welander distal myopathy, Swedish type" RELATED [GARD:0005552] xref: GARD:5552 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:603/attributed", source="Orphanet:603/ntbt", source="Orphanet:603"} @@ -258755,7 +258799,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011467 name: obsolete human herpesvirus type 6, integrated -synonym: "human herpesvirus type 6, integrated" EXACT [OMIM:604474] +synonym: "human herpesvirus type 6, integrated" EXACT [] xref: MESH:C565771 {source="MONDO:obsoleteEquivalent"} xref: OMIM:604474 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -258770,11 +258814,11 @@ subset: ordo_disorder {source="Orphanet:90117"} subset: orphanet_rare {source="Orphanet:90117"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary motor and sensory neuropathy, proximal type" EXACT [OMIM:604484, Orphanet:90117] -synonym: "hereditary motor and sensory neuropathy, proximal type, formerly" RELATED [OMIM:604484] -synonym: "HMSNO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604484] +synonym: "hereditary motor and sensory neuropathy, proximal type" EXACT [Orphanet:90117] +synonym: "hereditary motor and sensory neuropathy, proximal type, formerly" RELATED [] +synonym: "HMSNO" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HMSNP" EXACT ABBREVIATION [Orphanet:90117] -synonym: "neuropathy, hereditary motor and sensory, Okinawa type" RELATED [MONDO:Lexical, OMIM:604484] +synonym: "neuropathy, hereditary motor and sensory, Okinawa type" RELATED [MONDO:Lexical] xref: GARD:10131 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:90117/inclusion", source="Orphanet:90117/ntbt", source="Orphanet:90117"} xref: MEDGEN:346886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -258806,9 +258850,9 @@ name: hyperlipidemia, combined, 2 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "hyperlipidemia, combined, 2" EXACT [OMIM:604499] -synonym: "hyperlipidemia, combined, type 2" EXACT [MONDORULE:1, OMIM:604499] -synonym: "hyperlipidemia, familial combined, 2" RELATED [OMIM:604499] -synonym: "hyplip2" RELATED [OMIM:604499] +synonym: "hyperlipidemia, combined, type 2" EXACT [MONDORULE:1] +synonym: "hyperlipidemia, familial combined, 2" RELATED [] +synonym: "hyplip2" RELATED [] xref: MEDGEN:346879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565766 {source="MONDO:equivalentTo"} xref: OMIM:604499 {source="MONDO:equivalentTo"} @@ -258820,8 +258864,8 @@ id: MONDO:0011471 name: inflammatory bowel disease 3 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3." [DOID:0110891, PMID:10577918] synonym: "IBD3" EXACT ABBREVIATION [DOID:0110891, MONDO:Lexical, OMIM:604519] -synonym: "inflammatory bowel disease 3" EXACT [MONDO:Lexical, OMIM:604519] -synonym: "inflammatory bowel disease type 3" EXACT [DOID:0110891, MONDORULE:1] +synonym: "inflammatory bowel disease 3" EXACT [DOID:0110891, MONDO:Lexical, OMIM:604519] +synonym: "inflammatory bowel disease type 3" EXACT [MONDORULE:1] xref: DOID:0110891 {source="MONDO:equivalentTo"} xref: MEDGEN:346785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565764 {source="MONDO:equivalentTo"} @@ -258844,9 +258888,9 @@ subset: rare synonym: "ectodermal dysplasia - skin fragility syndrome" RELATED [GARD:0009705] synonym: "ectodermal dysplasia skin fragility syndrome" RELATED [GARD:0009705] synonym: "ectodermal dysplasia-skin fragility syndrome" EXACT [Orphanet:158668] -synonym: "ectodermal dysplasia/skin fragility syndrome" RELATED [OMIM:604536] -synonym: "McGrath syndrome" EXACT [Orphanet:158668] -synonym: "Mcgrath syndrome" RELATED [OMIM:604536] +synonym: "ectodermal dysplasia/skin fragility syndrome" RELATED [] +synonym: "McGrath syndrome" EXACT [OMIM:604536, Orphanet:158668] +synonym: "Mcgrath syndrome" RELATED [] xref: GARD:9705 {source="MONDO:GARD"} xref: ICD10CM:Q81.0 {source="Orphanet:158668", source="Orphanet:158668/attributed", source="Orphanet:158668/ntbt"} xref: MEDGEN:388032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -258869,9 +258913,9 @@ subset: rare synonym: "amaurosis congenita of Leber, type 5" RELATED [GARD:0009983] synonym: "LCA5" EXACT ABBREVIATION [DOID:0110215, MONDO:Lexical, OMIM:604537] synonym: "LCA5 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Leber congenital amaurosis 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604537] +synonym: "Leber congenital amaurosis 5" EXACT CLINGEN_LABEL [DOID:0110215, MONDO:Lexical, OMIM:604537] synonym: "Leber congenital amaurosis caused by mutation in LCA5" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 5" EXACT [DOID:0110215, MONDORULE:1, OMIM:604537] +synonym: "Leber congenital amaurosis type 5" EXACT [MONDORULE:1] xref: DOID:0110215 {source="MONDO:equivalentTo"} xref: GARD:9983 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="DOID:0110215", source="MONDO:relatedTo"} @@ -258897,11 +258941,11 @@ subset: gard_rare {source="GARD:2610", source="MONDO:GARD"} subset: rare synonym: "heart block progressive familial type 1B" RELATED [GARD:0002610] synonym: "PFHB1B" EXACT ABBREVIATION [DOID:0111076, MONDO:Lexical, OMIM:604559] -synonym: "Pfhbib" RELATED [OMIM:604559] +synonym: "Pfhbib" RELATED [] synonym: "progressive familial heart block caused by mutation in TRPM4" EXACT [MONDO:design_pattern] synonym: "progressive familial heart block type 1B" RELATED [GARD:0002610] -synonym: "progressive familial heart block, type 1B" RELATED [OMIM:604559] -synonym: "progressive familial heart block, type IB" RELATED [MONDO:Lexical, OMIM:604559] +synonym: "progressive familial heart block, type 1B" RELATED [] +synonym: "progressive familial heart block, type IB" RELATED [MONDO:Lexical] synonym: "TRPM4 progressive familial heart block" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111076 {source="MONDO:equivalentTo"} xref: GARD:2610 {source="MONDO:GARD"} @@ -258931,13 +258975,13 @@ subset: rare synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2" EXACT [DOID:0110190] synonym: "Charcot Marie Tooth disease type 4B2" RELATED [GARD:0009200] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease type 4B2" EXACT CLINGEN_LABEL [] -synonym: "Charcot-Marie-Tooth disease, type 4B2" RELATED [MONDO:Lexical, OMIM:604563] -synonym: "Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma" RELATED [OMIM:604563] -synonym: "Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2" RELATED [OMIM:604563] +synonym: "Charcot-Marie-Tooth disease type 4B2" EXACT CLINGEN_LABEL [DOID:0110190, icd11.foundation:393759720, Orphanet:99956] +synonym: "Charcot-Marie-Tooth disease, type 4B2" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma" RELATED [] +synonym: "Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2" RELATED [] synonym: "Charcot-Marie-Tooth neuropathy type 4B2" EXACT [DOID:0110190] -synonym: "Charcot-Marie-Tooth neuropathy, type 4B2" RELATED [OMIM:604563] -synonym: "Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma" RELATED [OMIM:604563] +synonym: "Charcot-Marie-Tooth neuropathy, type 4B2" RELATED [] +synonym: "Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma" RELATED [] synonym: "CMT 4B2" RELATED [GARD:0009200] synonym: "CMT4B2" EXACT ABBREVIATION [DOID:0110190, MONDO:Lexical, OMIM:604563, Orphanet:99956] synonym: "SBF2 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -258970,18 +259014,18 @@ subset: ordo_disorder {source="Orphanet:34592"} subset: orphanet_rare {source="Orphanet:34592"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bare lymphocyte syndrome type 1" EXACT [Orphanet:34592] +synonym: "Bare lymphocyte syndrome type 1" EXACT [icd11.foundation:489749747, Orphanet:34592] synonym: "bare lymphocyte syndrome type I" EXACT [DOID:0060009] -synonym: "Bare lymphocyte syndrome, type 1" RELATED [OMIM:604571] -synonym: "BARE lymphocyte syndrome, type I" RELATED [OMIM:604571] +synonym: "Bare lymphocyte syndrome, type 1" RELATED [] +synonym: "BARE lymphocyte syndrome, type I" RELATED [] synonym: "BLS type 1" RELATED [GARD:0008427] -synonym: "Bls, type 1" RELATED [OMIM:604571] +synonym: "Bls, type 1" RELATED [] synonym: "BLS, type I" EXACT [DOID:0060009] synonym: "BLSI" EXACT ABBREVIATION [DOID:0060009] -synonym: "HLA Class 1 deficiency" RELATED [OMIM:604571] +synonym: "HLA Class 1 deficiency" RELATED [] synonym: "HLA CLASS I deficiency" EXACT [DOID:0060009] -synonym: "immunodeficiency by defective expression of HLA class 1" EXACT [Orphanet:34592] -synonym: "immunodeficiency by defective expression of HLA class type 1" EXACT [MONDORULE:1, Orphanet:34592] +synonym: "immunodeficiency by defective expression of HLA class 1" EXACT [] +synonym: "immunodeficiency by defective expression of HLA class type 1" EXACT [MONDORULE:1] xref: DOID:0060009 {source="MONDO:equivalentTo"} xref: GARD:8427 {source="MONDO:GARD"} xref: ICD10CM:D81.6 {source="Orphanet:34592/specific", source="Orphanet:34592", source="Orphanet:34592/e"} @@ -259007,12 +259051,12 @@ name: tooth agenesis, selective, 3 def: "Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18247", source="MONDO:GARD"} subset: rare -synonym: "hypodontia/oligodontia 3" RELATED [OMIM:604625] +synonym: "hypodontia/oligodontia 3" RELATED [] synonym: "PAX9 tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "STHAG3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604625] +synonym: "STHAG3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "tooth agenesis caused by mutation in PAX9" EXACT [MONDO:design_pattern] synonym: "tooth agenesis, selective, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604625] -synonym: "tooth agenesis, selective, type 3" EXACT [MONDORULE:1, OMIM:604625] +synonym: "tooth agenesis, selective, type 3" EXACT [MONDORULE:1] xref: GARD:18247 {source="MONDO:GARD"} xref: MEDGEN:410035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567036 {source="MONDO:equivalentTo"} @@ -259029,10 +259073,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011478 name: growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia -synonym: "growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia" EXACT [OMIM:604690] +synonym: "growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia" EXACT [] synonym: "growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia" EXACT DEPRECATED [OMIM:604690] -synonym: "Roca syndrome" RELATED [OMIM:604690] -synonym: "Roca-Weidemann syndrome" RELATED [OMIM:604690] +synonym: "Roca syndrome" RELATED [] +synonym: "Roca-Weidemann syndrome" RELATED [] xref: MEDGEN:346757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565755 {source="MONDO:equivalentTo"} xref: OMIM:604690 {source="MONDO:equivalentTo"} @@ -259050,16 +259094,16 @@ subset: orphanet_rare {source="Orphanet:443236"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial orthostatic tachycardia due to norepinephrine transporter deficiency" EXACT [DOID:0111154, Orphanet:443236] -synonym: "irritable heart" EXACT [DOID:0111154] -synonym: "mitral valve prolapse syndrome" RELATED EXCLUDE [DOID:0111154] -synonym: "neurocirculatory asthenia" RELATED [DOID:0111154, OMIM:604715] +synonym: "irritable heart" EXACT [DOID:0111154, OMIM:604715] +synonym: "mitral valve prolapse syndrome" RELATED EXCLUDE [] +synonym: "neurocirculatory asthenia" RELATED [] synonym: "orhtostatic intolerance" EXACT [DOID:0111154] -synonym: "orthostatic intolerance" RELATED [OMIM:604715] +synonym: "orthostatic intolerance" RELATED [] synonym: "orthostatic intolerance due to NET deficiency" EXACT [DOID:0111154, Orphanet:443236] -synonym: "postural tachycardia syndrome due to NET deficiency" EXACT [DOID:0111154, Orphanet:443236] -synonym: "POTS" EXACT ABBREVIATION [https://orcid.org/0000-0002-9353-5498] -synonym: "Soldiers heart" RELATED [OMIM:604715] -synonym: "soldiers heart" EXACT [DOID:0111154] +synonym: "postural tachycardia syndrome due to NET deficiency" EXACT [DOID:0111154] +synonym: "POTS" EXACT ABBREVIATION [https://orcid.org/0000-0002-9353-5498, NCIT:C85020] +synonym: "Soldiers heart" RELATED [] +synonym: "soldiers heart" EXACT [DOID:0111154, OMIM:604715] xref: DOID:0111154 {source="MONDO:equivalentTo"} xref: EFO:1000645 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:13591 {source="MONDO:GARD"} @@ -259086,15 +259130,15 @@ subset: gard_rare {source="GARD:18111", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ACTG1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "autosomal dominant deafness 20" NARROW [DOID:0110550] -synonym: "autosomal dominant nonsyndromic deafness 20" NARROW [OMIM:604717] +synonym: "autosomal dominant deafness 20" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 20" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in ACTG1" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 20" NARROW [DOID:0110550, MONDORULE:2] -synonym: "deafness, autosomal dominant 20" NARROW [MONDO:Lexical, OMIM:604717] -synonym: "deafness, autosomal dominant 20/26" NARROW [OMIM:604717, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 20" NARROW [MONDORULE:2, OMIM:604717] -synonym: "DFNA20" NARROW ABBREVIATION [DOID:0110550, MONDO:Lexical, OMIM:604717] -synonym: "DFNA26" NARROW ABBREVIATION [DOID:0110550] +synonym: "autosomal dominant nonsyndromic deafness type 20" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 20" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant 20/26" NARROW [] +synonym: "deafness, autosomal dominant type 20" NARROW [MONDORULE:2] +synonym: "DFNA20" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "DFNA26" NARROW ABBREVIATION [] xref: DOID:0110550 {source="MONDO:equivalentTo"} xref: GARD:18111 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110550"} @@ -259124,9 +259168,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "craniosynostosis 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604757] synonym: "craniosynostosis Boston type" RELATED EXCLUDE [GARD:0005538] -synonym: "craniosynostosis type 2" EXACT [MONDORULE:1, OMIM:604757] +synonym: "craniosynostosis type 2" EXACT [MONDORULE:1] synonym: "craniosynostosis Warman type" RELATED [GARD:0005538] -synonym: "craniosynostosis, Boston-type" RELATED EXCLUDE [OMIM:604757] +synonym: "craniosynostosis, Boston-type" RELATED EXCLUDE [] synonym: "craniosynostosis, Warman type" EXACT [Orphanet:1541] synonym: "CRS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604757] synonym: "MSX2-related craniosynostosis" EXACT [https://github.com/mhughes5, https://github.com/monarch-initiative/mondo/issues/1933] @@ -259152,11 +259196,11 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15372", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1I" RELATED [MONDO:Lexical, OMIM:604765] -synonym: "cardiomyopathy, dilated, type 1I" EXACT [MONDORULE:4, OMIM:604765] +synonym: "cardiomyopathy, dilated, 1I" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1I" EXACT [MONDORULE:4] synonym: "CMD1I" EXACT ABBREVIATION [DOID:0110431, MONDO:Lexical, OMIM:604765] synonym: "DES familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "dilated cardiomyopathy type 1I" EXACT [DOID:0110431, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1I" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in DES" EXACT [MONDO:design_pattern] xref: DOID:0110431 {source="MONDO:equivalentTo"} xref: GARD:15372 {source="MONDO:GARD"} @@ -259172,7 +259216,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011483 name: polycystic bone disease -synonym: "Pcbd" RELATED [OMIM:604771] +synonym: "Pcbd" RELATED [] synonym: "polycystic bone disease" EXACT [OMIM:604771] xref: MEDGEN:346749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536324 {source="MONDO:equivalentTo"} @@ -259189,23 +259233,23 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arrhythmogenic right ventricular cardiomyopathy 2" EXACT DEPRECATED [DOID:0110071, OMIM:600996] -synonym: "arrhythmogenic right ventricular dysplasia 2" EXACT DEPRECATED [MONDO:0010975] -synonym: "arrhythmogenic right ventricular dysplasia type 2" EXACT DEPRECATED [DOID:0110071, MONDORULE:1] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:600996] -synonym: "arrhythmogenic right ventricular dysplasia, familial, type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:600996] -synonym: "ARVC2" EXACT DEPRECATED [DOID:0110071] -synonym: "ARVD2" EXACT DEPRECATED [DOID:0110071, MONDO:Lexical, OMIM:600996] -synonym: "catecholaminergic polymorphic ventricular tachycardia 1" EXACT CLINGEN_LABEL [] -synonym: "catecholaminergic polymorphic ventricular tachycardia type 1" EXACT [DOID:0060675, MONDORULE:1] -synonym: "CPVT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604772] +synonym: "arrhythmogenic right ventricular cardiomyopathy 2" EXACT DEPRECATED [] +synonym: "arrhythmogenic right ventricular dysplasia 2" EXACT DEPRECATED [DOID:0060675, MONDO:0010975] +synonym: "arrhythmogenic right ventricular dysplasia type 2" EXACT DEPRECATED [MONDORULE:1] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 2" RELATED DEPRECATED [MONDO:Lexical] +synonym: "arrhythmogenic right ventricular dysplasia, familial, type 2" EXACT DEPRECATED [MONDORULE:1] +synonym: "ARVC2" EXACT DEPRECATED [] +synonym: "ARVD2" EXACT DEPRECATED [MONDO:Lexical] +synonym: "catecholaminergic polymorphic ventricular tachycardia 1" EXACT CLINGEN_LABEL [DOID:0060675] +synonym: "catecholaminergic polymorphic ventricular tachycardia type 1" EXACT [MONDORULE:1, NCIT:C123414] +synonym: "CPVT1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CVPT1" EXACT ABBREVIATION [DOID:0060675] -synonym: "familial arrhythmogenic right ventricular dysplasia 2" EXACT DEPRECATED [DOID:0110071] +synonym: "familial arrhythmogenic right ventricular dysplasia 2" EXACT DEPRECATED [] synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2" EXACT [MONDO:design_pattern] synonym: "RYR2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ventricular tachycardia, catecholaminergic polymorphic, 1" EXACT [OMIM:604772, OMIM:genemap2] -synonym: "ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy" RELATED [MONDO:Lexical, OMIM:604772] -synonym: "ventricular tachycardia, stress-induced polymorphic" RELATED [OMIM:604772] +synonym: "ventricular tachycardia, catecholaminergic polymorphic, 1" EXACT [] +synonym: "ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy" RELATED [MONDO:Lexical] +synonym: "ventricular tachycardia, stress-induced polymorphic" RELATED [] xref: DOID:0060675 {source="MONDO:equivalentTo"} xref: DOID:0110071 {source="MONDO:equivalentObsolete"} xref: ICD10CM:I42.8 {source="DOID:0110071"} @@ -259234,18 +259278,18 @@ subset: gard_rare {source="GARD:9734", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARCI5" EXACT ABBREVIATION [DOID:0060714, MESH:C537265, MONDO:Lexical, OMIM:604777] -synonym: "autosomal recessive congenital ichthyosis 5" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive congenital ichthyosis type 5" EXACT [DOID:0060714, MONDORULE:1] +synonym: "autosomal recessive congenital ichthyosis 5" EXACT CLINGEN_LABEL [DOID:0060714] +synonym: "autosomal recessive congenital ichthyosis type 5" EXACT [MONDORULE:1] synonym: "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis" EXACT [DOID:0060714] -synonym: "ichthyosis congenita 3" RELATED [MESH:C537265, OMIM:604777] +synonym: "ichthyosis congenita 3" RELATED [MESH:C537265] synonym: "ichthyosis congenita III" RELATED [GARD:0009734, MESH:C537265] synonym: "ichthyosis lamellar 3" RELATED [MESH:C537265] -synonym: "ichthyosis, congenital, autosomal recessive 5" RELATED [MESH:C537265, MONDO:Lexical, OMIM:604777] -synonym: "ichthyosis, congenital, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:604777] -synonym: "ichthyosis, lamellar, 3" RELATED [MESH:C537265, OMIM:604777] -synonym: "ichthyosis, lamellar, 3, formerly" RELATED [MESH:C537265, OMIM:604777] +synonym: "ichthyosis, congenital, autosomal recessive 5" RELATED [MESH:C537265, MONDO:Lexical] +synonym: "ichthyosis, congenital, autosomal recessive type 5" EXACT [MONDORULE:1] +synonym: "ichthyosis, lamellar, 3" RELATED [MESH:C537265] +synonym: "ichthyosis, lamellar, 3, formerly" RELATED [MESH:C537265] synonym: "ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive" RELATED [MESH:C537265] -synonym: "ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive" RELATED [OMIM:604777] +synonym: "ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive" RELATED [] synonym: "lamellar ichthyosis, type 3" RELATED [GARD:0009734] synonym: "LI3, formerly" RELATED [MESH:C537265] synonym: "NNCI" RELATED ABBREVIATION [MESH:C537265] @@ -259276,9 +259320,9 @@ subset: orphanet_rare {source="Orphanet:98893"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CMD1B" EXACT ABBREVIATION [DOID:0110634, Orphanet:98893] -synonym: "congenital muscular dystrophy type 1B" EXACT [DOID:0110634, MONDORULE:4] +synonym: "congenital muscular dystrophy type 1B" EXACT [DOID:0110634, MONDORULE:4, Orphanet:98893] synonym: "MDC1B" EXACT ABBREVIATION [DOID:0110634, MONDO:Lexical, OMIM:604801, Orphanet:98893] -synonym: "muscular dystrophy, congenital, 1B" RELATED [MONDO:Lexical, OMIM:604801] +synonym: "muscular dystrophy, congenital, 1B" RELATED [MONDO:Lexical] xref: DOID:0110634 {source="MONDO:equivalentTo"} xref: GARD:12586 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="DOID:0110634", source="Orphanet:98893/attributed", source="Orphanet:98893/ntbt", source="Orphanet:98893"} @@ -259303,9 +259347,9 @@ subset: orphanet_rare {source="Orphanet:157946"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HDL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604802, Orphanet:157946] -synonym: "Huntington disease-like 3" EXACT [MONDO:Lexical, OMIM:604802] -synonym: "Huntington disease-like neurodegenerative disorder, autosomal recessive" RELATED [OMIM:604802] -synonym: "Huntington disease-like type 3" EXACT [MONDORULE:1, Orphanet:157946] +synonym: "Huntington disease-like 3" EXACT [MONDO:Lexical, OMIM:604802, Orphanet:157946] +synonym: "Huntington disease-like neurodegenerative disorder, autosomal recessive" RELATED [] +synonym: "Huntington disease-like type 3" EXACT [MONDORULE:1] xref: GARD:16986 {source="MONDO:GARD"} xref: ICD10CM:G10 {source="Orphanet:157946/attributed", source="Orphanet:157946/ntbt", source="Orphanet:157946"} xref: MEDGEN:347622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -259326,7 +259370,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive primary microcephaly caused by mutation in CDK5RAP2" EXACT [MONDO:design_pattern] synonym: "CDK5RAP2 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MCPH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604804] +synonym: "MCPH3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 3, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604804] xref: DOID:0070286 {source="MONDO:equivalentTo"} xref: GARD:15373 {source="MONDO:GARD"} @@ -259351,12 +259395,12 @@ subset: orphanet_rare {source="Orphanet:100993"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 12" EXACT [DOID:0110765] -synonym: "autosomal dominant spastic paraplegia type 12" EXACT [DOID:0110765] +synonym: "autosomal dominant spastic paraplegia type 12" EXACT [DOID:0110765, Orphanet:100993] synonym: "hereditary spastic paraplegia caused by mutation in RTN2" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 12" EXACT [DOID:0110765, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 12" EXACT [MONDORULE:2] synonym: "RTN2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 12" RELATED [GARD:0009586] -synonym: "spastic paraplegia 12, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604805] +synonym: "spastic paraplegia 12, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG12" EXACT ABBREVIATION [DOID:0110765, MONDO:Lexical, OMIM:604805, Orphanet:100993] xref: DOID:0110765 {source="MONDO:equivalentTo"} xref: GARD:9586 {source="MONDO:GARD"} @@ -259383,9 +259427,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:171700"} subset: orphanet_rare {source="Orphanet:171700"} subset: rare -synonym: "DPb" RELATED [OMIM:604809] -synonym: "panbronchiolitis, diffuse" RELATED [OMIM:604809] -synonym: "PBLT" RELATED ABBREVIATION [OMIM:604809] +synonym: "DPb" RELATED [] +synonym: "panbronchiolitis, diffuse" RELATED [] +synonym: "PBLT" RELATED ABBREVIATION [] xref: GARD:8526 {source="MONDO:GARD"} xref: icd11.foundation:291357751 {source="MONDO:equivalentTo", source="Orphanet:171700"} xref: ICD9:491.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -259406,10 +259450,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8526/diffuse id: MONDO:0011491 name: epilepsy, idiopathic generalized, susceptibility to, 7 subset: predisposition -synonym: "EIG7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604827] +synonym: "EIG7" EXACT ABBREVIATION [DOID:0111321, MONDO:Lexical, OMIM:604827] synonym: "epilepsy, idiopathic generalized, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:604827] -synonym: "epilepsy, juvenile myoclonic" EXACT [OMIM:604827, OMIM:genemap2] -synonym: "myoclonic epilepsy, juvenile, 2" RELATED [OMIM:604827] +synonym: "epilepsy, juvenile myoclonic" EXACT [] +synonym: "myoclonic epilepsy, juvenile, 2" RELATED [] xref: DOID:0111321 {source="MONDO:equivalentTo"} xref: MEDGEN:442800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604827 {source="MONDO:equivalentTo"} @@ -259443,12 +259487,12 @@ subset: rare synonym: "COL11A1 Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Stickler syndrome caused by mutation in COL11A1" EXACT [MONDO:design_pattern] synonym: "Stickler syndrome type II" EXACT [NCIT:C74985] -synonym: "Stickler syndrome, beaded vitreous type" RELATED [OMIM:604841] +synonym: "Stickler syndrome, beaded vitreous type" RELATED [] synonym: "Stickler syndrome, type 2" RELATED [GARD:0005020] -synonym: "STICKLER syndrome, type II" RELATED [MONDO:Lexical, OMIM:604841] -synonym: "Stickler syndrome, vitreous type 2" RELATED [OMIM:604841] +synonym: "STICKLER syndrome, type II" RELATED [MONDO:Lexical] +synonym: "Stickler syndrome, vitreous type 2" RELATED [] synonym: "STL 2" RELATED [GARD:0005020] -synonym: "STL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604841] +synonym: "STL2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080675 {source="MONDO:equivalentTo"} xref: GARD:5020 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:90654/attributed", source="Orphanet:90654/ntbt", source="Orphanet:90654"} @@ -259471,8 +259515,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5020/stickle [Term] id: MONDO:0011494 name: hyaluronan metabolism, defect 1N -synonym: "hyaluronan metabolism, defect IN" RELATED [OMIM:604855] -synonym: "hyaluronan metabolism, defect type 1N" EXACT [MONDORULE:4, OMIM:604855] +synonym: "hyaluronan metabolism, defect IN" RELATED [] +synonym: "hyaluronan metabolism, defect type 1N" EXACT [MONDORULE:4] xref: MEDGEN:347614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565742 {source="MONDO:equivalentTo"} xref: OMIM:604855 {source="MONDO:equivalentTo"} @@ -259496,9 +259540,9 @@ subset: ordo_disorder {source="Orphanet:93279"} subset: orphanet_rare {source="Orphanet:93279"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Namaqualand hip dysplasia" RELATED [OMIM:604864] -synonym: "OSCDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604864] -synonym: "osteoarthritis with mild chondrodysplasia" RELATED [MONDO:Lexical, OMIM:604864] +synonym: "Namaqualand hip dysplasia" RELATED [] +synonym: "OSCDP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "osteoarthritis with mild chondrodysplasia" RELATED [MONDO:Lexical] xref: GARD:16812 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93279", source="Orphanet:93279/attributed", source="Orphanet:93279/ntbt"} xref: icd11.foundation:690266690 {source="MONDO:equivalentTo"} @@ -259525,8 +259569,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:168583"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NAIC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604901] -synonym: "NORTH American Indian childhood cirrhosis" RELATED [MONDO:Lexical, OMIM:604901] +synonym: "NAIC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "NORTH American Indian childhood cirrhosis" RELATED [MONDO:Lexical] xref: GARD:17037 {source="MONDO:GARD"} xref: ICD10CM:K74.6 {source="Orphanet:168583/attributed", source="Orphanet:168583/ntbt", source="Orphanet:168583"} xref: icd11.foundation:1992710077 {source="MONDO:equivalentTo", source="Orphanet:168583"} @@ -259544,11 +259588,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011498 name: schizophrenia 9 def: "A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2." [DOID:0070085] -synonym: "schizophrenia 9" EXACT [MONDO:Lexical, OMIM:604906] -synonym: "schizophrenia 9 with or without an affective disorder" RELATED [OMIM:604906] -synonym: "schizophrenia 9, susceptibility to" EXACT [OMIM:604906, OMIM:genemap2] -synonym: "schizophrenia susceptibility locus, chromosome 1Q42-related" RELATED [OMIM:604906] -synonym: "schizophrenia type 9" EXACT [MONDORULE:1, OMIM:604906] +synonym: "schizophrenia 9" EXACT [DOID:0070085, MONDO:Lexical, OMIM:604906] +synonym: "schizophrenia 9 with or without an affective disorder" RELATED [] +synonym: "schizophrenia 9, susceptibility to" EXACT [] +synonym: "schizophrenia susceptibility locus, chromosome 1Q42-related" RELATED [] +synonym: "schizophrenia type 9" EXACT [MONDORULE:1] synonym: "SCZD9" EXACT ABBREVIATION [DOID:0070085, MONDO:Lexical, OMIM:604906] xref: DOID:0070085 {source="MONDO:equivalentTo"} xref: MEDGEN:346728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -259577,7 +259621,7 @@ subset: ordo_disorder {source="Orphanet:64755"} subset: orphanet_rare {source="Orphanet:64755"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Becker nevus syndrome" EXACT [OMIM:604919] +synonym: "Becker nevus syndrome" EXACT [OMIM:604919, Orphanet:64755] synonym: "hairy epidermal nevus syndrome" RELATED [GARD:0003856] synonym: "pigmentary hairy epidermal nevus" EXACT [Orphanet:64755] xref: GARD:5901 {source="MONDO:GARD"} @@ -259606,7 +259650,7 @@ subset: orphanet_rare {source="Orphanet:166277"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cortical defects wormian bones and dentinogenesis imperfecta" RELATED [GARD:0010290] -synonym: "cortical defects, WORMIAN bones, and dentinogenesis imperfecta" RELATED [OMIM:604922] +synonym: "cortical defects, WORMIAN bones, and dentinogenesis imperfecta" RELATED [] synonym: "Suarez-Stickler syndrome" EXACT [Orphanet:166277] xref: GARD:10290 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:166277", source="Orphanet:166277/attributed", source="Orphanet:166277/ntbt"} @@ -259630,10 +259674,10 @@ subset: gard_rare {source="GARD:15374", source="MONDO:GARD"} subset: rare synonym: "CISD2 Wolfram syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WFS2" EXACT ABBREVIATION [DOID:0110630, MONDO:Lexical, OMIM:604928] -synonym: "WOLFRAM syndrome 2" RELATED [OMIM:604928] -synonym: "Wolfram syndrome 2" EXACT [MONDO:Lexical, OMIM:604928] +synonym: "WOLFRAM syndrome 2" RELATED [] +synonym: "Wolfram syndrome 2" EXACT [DOID:0110630, MONDO:Lexical, OMIM:604928] synonym: "Wolfram syndrome caused by mutation in CISD2" EXACT [MONDO:design_pattern] -synonym: "Wolfram syndrome type 2" EXACT [DOID:0110630, MONDORULE:1, OMIM:604928] +synonym: "Wolfram syndrome type 2" EXACT [MONDORULE:1] xref: DOID:0110630 {source="MONDO:equivalentTo"} xref: GARD:15374 {source="MONDO:GARD"} xref: ICD10CM:E13.8 {source="DOID:0110630"} @@ -259655,9 +259699,9 @@ subset: gard_rare {source="GARD:15375", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "apparent cortisone reductase deficiency" EXACT [PMID:21325058] -synonym: "cortisone reductase deficiency 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:604931] +synonym: "cortisone reductase deficiency 1" EXACT CLINGEN_LABEL [DOID:0090141, MONDO:Lexical, OMIM:604931] synonym: "cortisone reductase deficiency caused by mutation in H6PD" EXACT [MONDO:design_pattern] -synonym: "cortisone reductase deficiency type 1" EXACT [DOID:0090141, MONDORULE:1, NCIT:C131849, OMIM:604931] +synonym: "cortisone reductase deficiency type 1" EXACT [MONDORULE:1, NCIT:C131849] synonym: "CORTRD1" EXACT ABBREVIATION [DOID:0090141, MONDO:Lexical, OMIM:604931] synonym: "H6PD cortisone reductase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hexose-6-phosphate dehydrogenase deficiency" EXACT [NCIT:C131849] @@ -259686,9 +259730,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:443162"} subset: orphanet_rare {source="Orphanet:443162"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hydranencephaly and microcephaly" RELATED [OMIM:605013] +synonym: "hydranencephaly and microcephaly" RELATED [] synonym: "MHAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605013, Orphanet:443162] -synonym: "microhydranencephaly" RELATED [MONDO:Lexical, OMIM:605013] +synonym: "microhydranencephaly" RELATED [MONDO:Lexical] xref: GARD:10216 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:443162/attributed", source="Orphanet:443162/ntbt", source="Orphanet:443162"} xref: MEDGEN:341899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -259711,13 +259755,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ANGPTL3 hypobetalipoproteinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "combined familial hypolipidemia" EXACT [DOID:0111061] -synonym: "familial hypobetalipoproteinemia 2" EXACT CLINGEN_LABEL [] -synonym: "familial hypobetalipoproteinemia type 2" EXACT [DOID:0111061, MONDORULE:1] +synonym: "familial hypobetalipoproteinemia 2" EXACT CLINGEN_LABEL [DOID:0111061] +synonym: "familial hypobetalipoproteinemia type 2" EXACT [MONDORULE:1] synonym: "FHBL2" EXACT ABBREVIATION [DOID:0111061, MONDO:Lexical, OMIM:605019] synonym: "hypobetalipoproteinemia caused by mutation in ANGPTL3" EXACT [MONDO:design_pattern] -synonym: "hypobetalipoproteinemia, familial, 2" RELATED [MONDO:Lexical, OMIM:605019] -synonym: "hypobetalipoproteinemia, familial, type 2" EXACT [MONDORULE:1, OMIM:605019] -synonym: "hypolipidemia, familial, combined" RELATED [OMIM:605019] +synonym: "hypobetalipoproteinemia, familial, 2" RELATED [MONDO:Lexical] +synonym: "hypobetalipoproteinemia, familial, type 2" EXACT [MONDORULE:1] +synonym: "hypolipidemia, familial, combined" RELATED [] xref: DOID:0111061 {source="MONDO:equivalentTo"} xref: GARD:15376 {source="MONDO:GARD"} xref: MEDGEN:341895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -259741,11 +259785,11 @@ subset: ordo_disorder {source="Orphanet:352582"} subset: orphanet_rare {source="Orphanet:352582"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Eim" RELATED [OMIM:605021] +synonym: "Eim" RELATED [] synonym: "familial infantile myoclonus epilepsy" EXACT [Orphanet:352582] synonym: "FIME" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605021, Orphanet:352582] -synonym: "myoclonic epilepsy, familial infantile" RELATED [MONDO:Lexical, OMIM:605021] -synonym: "myoclonic epilepsy, infantile, familial" EXACT [OMIM:605021, OMIM:genemap2] +synonym: "myoclonic epilepsy, familial infantile" RELATED [MONDO:Lexical] +synonym: "myoclonic epilepsy, infantile, familial" EXACT [] xref: GARD:17521 {source="MONDO:GARD"} xref: ICD10CM:G40.3 {source="Orphanet:352582", source="Orphanet:352582/attributed", source="Orphanet:352582/ntbt"} xref: MEDGEN:181488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -259775,11 +259819,11 @@ name: lymphoma, non-Hodgkin, familial subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "lymphoma, follicular, somatic" EXACT [OMIM:605027, OMIM:genemap2] -synonym: "lymphoma, non-Hodgkin" EXACT [OMIM:605027, OMIM:genemap2] +synonym: "lymphoma, follicular, somatic" EXACT [] +synonym: "lymphoma, non-Hodgkin" EXACT [] synonym: "lymphoma, non-Hodgkin, familial" EXACT [OMIM:605027] -synonym: "lymphoma, non-Hodgkin, somatic" EXACT [OMIM:605027, OMIM:genemap2] -synonym: "non-Hodgkin lymphoma" RELATED [OMIM:605027] +synonym: "lymphoma, non-Hodgkin, somatic" EXACT [] +synonym: "non-Hodgkin lymphoma" RELATED [] xref: ICD9:202.80 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:1648388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605027 {source="MONDO:equivalentTo"} @@ -259792,7 +259836,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011509 name: low density lipoprotein cholesterol, mild elevation of -synonym: "Ldlc, mild elevation of" RELATED [OMIM:605028] +synonym: "Ldlc, mild elevation of" RELATED [] synonym: "low density lipoprotein cholesterol, mild elevation of" EXACT [OMIM:605028] xref: MEDGEN:347585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605028 {source="MONDO:equivalentTo"} @@ -259812,9 +259856,9 @@ subset: orphanet_rare {source="Orphanet:97297"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bohring syndrome" EXACT [OMIM:605039, Orphanet:97297] -synonym: "BOHRING-Opitz syndrome" RELATED [OMIM:605039] -synonym: "Bohring-Opitz syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605039] -synonym: "BOPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605039] +synonym: "BOHRING-Opitz syndrome" RELATED [] +synonym: "Bohring-Opitz syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C131533, OMIM:605039, Orphanet:97297] +synonym: "BOPS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Bos syndrome" EXACT [Orphanet:97297] synonym: "C-like syndrome" EXACT [OMIM:605039, Orphanet:97297] synonym: "Oberklaid-Danks syndrome" EXACT [Orphanet:97297] @@ -259840,7 +259884,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10140/bohrin [Term] id: MONDO:0011511 name: clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia -synonym: "Chzam" RELATED [OMIM:605040] +synonym: "Chzam" RELATED [] synonym: "clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia" EXACT [OMIM:605040] xref: MEDGEN:387951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565729 {source="MONDO:equivalentTo"} @@ -259860,11 +259904,11 @@ subset: ordo_disorder {source="Orphanet:79493"} subset: orphanet_rare {source="Orphanet:79493"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Brooke-Spiegler syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605041] -synonym: "BRSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605041] -synonym: "Bss" RELATED [OMIM:605041] -synonym: "CYLD cutaneous syndrome" EXACT [Orphanet:79493] -synonym: "Spiegler-Brooke syndrome" RELATED [OMIM:605041] +synonym: "Brooke-Spiegler syndrome" EXACT CLINGEN_LABEL [DOID:0050693, MONDO:Lexical, OMIM:605041, Orphanet:79493] +synonym: "BRSS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Bss" RELATED [] +synonym: "CYLD cutaneous syndrome" EXACT [DOID:0050693, Orphanet:79493] +synonym: "Spiegler-Brooke syndrome" RELATED [] xref: DOID:0050693 {source="MONDO:equivalentTo"} xref: GARD:10179 {source="MONDO:GARD"} xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -259913,7 +259957,7 @@ subset: orphanet_rare {source="Orphanet:1209"} subset: rare synonym: "congenital agenesis of the tricuspid valve" RELATED [GARD:0005274] synonym: "congenital atresia of tricuspid valve" EXACT [NCIT:C85202] -synonym: "tricuspid atresia" EXACT [MONDO:ambiguous, OMIM:605067] +synonym: "tricuspid atresia" EXACT [DOID:0080169, icd11.foundation:845891723, MONDO:ambiguous, NCIT:C85202, OMIM:605067, Orphanet:1209] synonym: "tricuspid atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "tricuspid valve atresia" EXACT [NCIT:C85202] xref: DOID:0080169 {source="MONDO:equivalentTo"} @@ -259949,7 +259993,7 @@ replaced_by: MONDO:0017884 id: MONDO:0011516 name: early response to neural induction gene synonym: "early response to neural induction gene" EXACT [OMIM:605105] -synonym: "Erni" RELATED [OMIM:605105] +synonym: "Erni" RELATED [] xref: MEDGEN:344332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605105 {source="MONDO:equivalentTo"} xref: UMLS:C1854633 {source="MEDGEN:344332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -259966,11 +260010,11 @@ subset: ordo_disorder {source="Orphanet:88660"} subset: orphanet_rare {source="Orphanet:88660"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "early-onset hypertension with exacerbation in pregnancy" EXACT [Orphanet:88660] -synonym: "hypertension due to gain-of-function mutations in the mineralocorticoid receptor" EXACT [Orphanet:88660] -synonym: "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" EXACT [OMIM:605115, OMIM:genemap2] -synonym: "hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy" RELATED [OMIM:605115] -synonym: "hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy" RELATED [OMIM:605115] +synonym: "early-onset hypertension with exacerbation in pregnancy" EXACT [icd11.foundation:538048714, Orphanet:88660] +synonym: "hypertension due to gain-of-function mutations in the mineralocorticoid receptor" EXACT [icd11.foundation:538048714, Orphanet:88660] +synonym: "hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" EXACT [] +synonym: "hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy" RELATED [] +synonym: "hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy" RELATED [] xref: GARD:19093 {source="MONDO:GARD"} xref: ICD10CM:I15.1 {source="Orphanet:88660/attributed", source="Orphanet:88660/ntbt", source="Orphanet:88660"} xref: icd11.foundation:538048714 {source="MONDO:equivalentTo"} @@ -259998,11 +260042,11 @@ subset: orphanet_rare {source="Orphanet:319182"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "A syndrome of abnormal facies, short stature, and psychomotor retardation" RELATED [GARD:0005565] -synonym: "hairy elbows, short stature, Facial Dysmorphism, and developmental delay" RELATED [OMIM:605130] +synonym: "hairy elbows, short stature, Facial Dysmorphism, and developmental delay" RELATED [] synonym: "hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:319182] -synonym: "WDSTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605130] +synonym: "WDSTS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Wiedemann Grosse Dibbern syndrome" RELATED [GARD:0005565] -synonym: "Wiedemann-Steiner syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605130] +synonym: "Wiedemann-Steiner syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605130, Orphanet:319182] xref: GARD:5565 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:319182/attributed", source="Orphanet:319182/ntbt", source="Orphanet:319182"} xref: MEDGEN:340266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -260025,15 +260069,15 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:1708", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 23" NARROW [DOID:0110553] -synonym: "autosomal dominant nonsyndromic deafness 23" NARROW [OMIM:605192] +synonym: "autosomal dominant deafness 23" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 23" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SIX1" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 23" NARROW [DOID:0110553, MONDORULE:2] -synonym: "deafness, autosomal dominant 23" NARROW [MONDO:Lexical, OMIM:605192, OMIM:genemap2] +synonym: "autosomal dominant nonsyndromic deafness type 23" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 23" NARROW [MONDO:Lexical] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 23" NARROW [GARD:0001708] -synonym: "deafness, autosomal dominant type 23" NARROW [MONDORULE:2, OMIM:605192] +synonym: "deafness, autosomal dominant type 23" NARROW [MONDORULE:2] synonym: "DFNA 23" NARROW [GARD:0001708] -synonym: "DFNA23" NARROW ABBREVIATION [DOID:0110553, MONDO:Lexical, OMIM:605192] +synonym: "DFNA23" NARROW ABBREVIATION [MONDO:Lexical] synonym: "SIX1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110553 {source="MONDO:equivalentTo"} xref: GARD:1708 {source="MONDO:GARD"} @@ -260054,9 +260098,9 @@ id: MONDO:0011520 name: systemic lupus erythematosus, susceptibility to, 2 subset: predisposition synonym: "SLEB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605218] -synonym: "susceptibility to systemic lupus erythematosus 2" EXACT [OMIM:605218] +synonym: "susceptibility to systemic lupus erythematosus 2" EXACT [] synonym: "systemic lupus erythematosus, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:605218] -synonym: "systemic lupus erythematosus, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:605218] +synonym: "systemic lupus erythematosus, susceptibility to, type 2" EXACT [MONDORULE:1] xref: MEDGEN:343159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605218 {source="MONDO:equivalentTo"} xref: Orphanet:536 {source="OMIM:605218"} @@ -260069,8 +260113,8 @@ id: MONDO:0011521 name: inflammatory bowel disease 7 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36." [DOID:0110882, PMID:19122664] synonym: "IBD7" EXACT ABBREVIATION [DOID:0110882, MONDO:Lexical, OMIM:605225] -synonym: "inflammatory bowel disease 7" EXACT [MONDO:Lexical, OMIM:605225] -synonym: "inflammatory bowel disease type 7" EXACT [DOID:0110882, MONDORULE:1] +synonym: "inflammatory bowel disease 7" EXACT [DOID:0110882, MONDO:Lexical, OMIM:605225] +synonym: "inflammatory bowel disease type 7" EXACT [MONDORULE:1] xref: DOID:0110882 {source="MONDO:equivalentTo"} xref: MEDGEN:381452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565353 {source="MONDO:equivalentTo"} @@ -260089,8 +260133,8 @@ subset: ordo_disorder {source="Orphanet:100995"} subset: orphanet_rare {source="Orphanet:100995"} subset: rare synonym: "autosomal recessive spastic paraplegia 14" EXACT [DOID:0110767] -synonym: "autosomal recessive spastic paraplegia type 14" EXACT [DOID:0110767] -synonym: "hereditary spastic paraplegia type 14" EXACT [DOID:0110767, MONDORULE:2] +synonym: "autosomal recessive spastic paraplegia type 14" EXACT [DOID:0110767, Orphanet:100995] +synonym: "hereditary spastic paraplegia type 14" EXACT [MONDORULE:2] synonym: "spastic paraplegia 14" EXACT [GARD:0009589] synonym: "spastic paraplegia 14, autosomal recessive" EXACT [MONDO:Lexical, OMIM:605229] synonym: "SPG14" EXACT ABBREVIATION [DOID:0110767, MONDO:Lexical, OMIM:605229, Orphanet:100995] @@ -260110,8 +260154,8 @@ name: Bardet-Biedl syndrome 6 subset: gard_rare {source="GARD:10205", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 6" EXACT [MONDO:Lexical, OMIM:605231] -synonym: "Bardet-Biedl syndrome type 6" EXACT [DOID:0110128, MONDORULE:1, OMIM:605231] +synonym: "Bardet-Biedl syndrome 6" EXACT [DOID:0110128, MONDO:Lexical, OMIM:605231] +synonym: "Bardet-Biedl syndrome type 6" EXACT [MONDORULE:1] synonym: "BBS6" EXACT ABBREVIATION [DOID:0110128, MONDO:Lexical, OMIM:605231] xref: DOID:0110128 {source="MONDO:equivalentTo"} xref: GARD:10205 {source="MONDO:GARD"} @@ -260139,7 +260183,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autoimmune lymphoproliferative syndrome without FAS mutations" EXACT [GARD:0009797] synonym: "DALD" EXACT ABBREVIATION [OMIM:605233, Orphanet:275523] -synonym: "Dianzani autoimmune lymphoproliferative disease" EXACT [OMIM:605233] +synonym: "Dianzani autoimmune lymphoproliferative disease" EXACT [OMIM:605233, Orphanet:275523] synonym: "Dianzani autoimmune lymphoproliferative syndrome" EXACT [GARD:0009797] synonym: "Dianzani form of autoimmune lymphoproliferative disease" EXACT [GARD:0009797] xref: GARD:9797 {source="MONDO:GARD"} @@ -260158,7 +260202,7 @@ name: Carney complex type 2 subset: gard_rare {source="GARD:15377", source="MONDO:GARD"} subset: rare synonym: "Carney complex, type 2" EXACT [MONDO:Lexical, OMIM:605244] -synonym: "Carney complex, type II" EXACT [OMIM:605244, OMIM:genemap2] +synonym: "Carney complex, type II" EXACT [] synonym: "Carney Myxoma-endocrine Complex, type 2" EXACT [OMIM:605244] synonym: "CNC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605244] xref: GARD:15377 {source="MONDO:GARD"} @@ -260190,23 +260234,23 @@ subset: rare synonym: "autosomal recessive congenital hypomyelinating neuropathy" EXACT [GARD:0006170, Orphanet:99951] synonym: "autosomal recessive congenital hypomyelinating or amyelinating neuropathy" EXACT [DOID:0110195] synonym: "Charcot Marie Tooth disease type 4E" RELATED [GARD:0009203] -synonym: "Charcot-Marie-Tooth disease type 4E" EXACT [GARD:0006170] -synonym: "Charcot-Marie-Tooth disease, type 4E" RELATED [OMIM:605253] +synonym: "Charcot-Marie-Tooth disease type 4E" EXACT [DOID:0110195, GARD:0006170, icd11.foundation:225958466, Orphanet:99951] +synonym: "Charcot-Marie-Tooth disease, type 4E" RELATED [] synonym: "Charcot-Marie-Tooth neuropathy type 4E" EXACT [DOID:0110195] -synonym: "Charcot-Marie-Tooth neuropathy, type 4E" RELATED [OMIM:605253] -synonym: "CHN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605253] -synonym: "CHN1" RELATED ABBREVIATION [OMIM:605253] +synonym: "Charcot-Marie-Tooth neuropathy, type 4E" RELATED [] +synonym: "CHN" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "CHN1" RELATED ABBREVIATION [] synonym: "CMT 4E" RELATED [GARD:0009203] synonym: "CMT4E" EXACT ABBREVIATION [DOID:0110195, GARD:0006170, Orphanet:99951] synonym: "congenital hypomyelinating neuropathy (CHN)" RELATED [GARD:0009203] synonym: "congenital hypomyelination neuropathy" RELATED [GARD:0006170] -synonym: "hypomyelinating neuropathy, congenital, 1" EXACT [OMIM:605253, OMIM:genemap2] -synonym: "hypomyelination, Severe congenital" RELATED [OMIM:605253] +synonym: "hypomyelinating neuropathy, congenital, 1" EXACT [] +synonym: "hypomyelination, Severe congenital" RELATED [] synonym: "neuropathy, congenital hypomyelinating" RELATED [GARD:0009203] -synonym: "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive" RELATED [MONDO:Lexical, OMIM:605253] +synonym: "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive" RELATED [MONDO:Lexical] synonym: "neuropathy, congenital hypomyelinating, 1" EXACT [DOID:0110195] -synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE" RELATED [OMIM:605253] -synonym: "neuropathy, congenital hypomyelinating, autosomal dominant" RELATED [OMIM:605253] +synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE" RELATED [] +synonym: "neuropathy, congenital hypomyelinating, autosomal dominant" RELATED [] synonym: "Neuropathy, Congenital Hypomyelination" EXACT [NORD:1506] xref: DOID:0110195 {source="MONDO:equivalentTo"} xref: GARD:9203 {source="MONDO:GARD"} @@ -260236,18 +260280,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:101089"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Activation-induced cytidine deaminase deficiency" EXACT [Orphanet:101089] -synonym: "activation-induced cytidine deaminase deficiency" EXACT [DOID:0060758] +synonym: "Activation-induced cytidine deaminase deficiency" EXACT [DOID:0060758, Orphanet:101089] +synonym: "activation-induced cytidine deaminase deficiency" EXACT [DOID:0060758, Orphanet:101089] synonym: "AICDA hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "aid deficiency" EXACT [DOID:0060758, Orphanet:101089] -synonym: "HIGM2" EXACT ABBREVIATION [DOID:0060758, MONDO:Lexical, OMIM:605258, Orphanet:101089] +synonym: "HIGM2" EXACT ABBREVIATION [DOID:0060758, MONDO:Lexical, NCIT:C129074, OMIM:605258, Orphanet:101089] synonym: "hyper IgM syndrome 2" RELATED [GARD:0010578] -synonym: "hyper-IgM syndrome 2" RELATED [OMIM:605258] +synonym: "hyper-IgM syndrome 2" RELATED [] synonym: "hyper-IgM syndrome caused by mutation in AICDA" EXACT [MONDO:design_pattern] -synonym: "hyper-IgM syndrome type 2" EXACT CLINGEN_LABEL [DOID:0060758] +synonym: "hyper-IgM syndrome type 2" EXACT CLINGEN_LABEL [DOID:0060758, Orphanet:101089] synonym: "immunodeficiency with hyper IgM type 2" RELATED [GARD:0010578] -synonym: "immunodeficiency with hyper-IgM type 2" RELATED [DOID:0060758] -synonym: "immunodeficiency with hyper-IgM, type 2" RELATED [MONDO:Lexical, OMIM:605258] +synonym: "immunodeficiency with hyper-IgM type 2" RELATED [] +synonym: "immunodeficiency with hyper-IgM, type 2" RELATED [MONDO:Lexical] xref: DOID:0060758 {source="MONDO:equivalentTo"} xref: GARD:10578 {source="MONDO:GARD"} xref: ICD10CM:D80.5 {source="Orphanet:101089", source="Orphanet:101089/attributed", source="Orphanet:101089/ntbt", source="DOID:0060758"} @@ -260282,8 +260326,8 @@ synonym: "autosomal dominant cerebellar ataxia with mental retardation" RELATED synonym: "cerebellar ataxia, autosomal dominant with intellectual disability" RELATED [GARD:0009611] synonym: "cerebellar ataxia, autosomal dominant with mental retardation" RELATED DEPRECATED [GARD:0009611] synonym: "SCA13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605259, Orphanet:98768] -synonym: "spinocerebellar ataxia 13" RELATED [MONDO:Lexical, OMIM:605259] -synonym: "spinocerebellar ataxia type 13" EXACT [MONDORULE:2, OMIM:605259] +synonym: "spinocerebellar ataxia 13" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 13" EXACT [DOID:0050963, icd11.foundation:1191033828, MONDORULE:2, Orphanet:98768] xref: DOID:0050963 {source="MONDO:equivalentTo"} xref: GARD:9611 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:98768", source="Orphanet:98768/attributed", source="Orphanet:98768/ntbt"} @@ -260310,7 +260354,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mesomelic dysplasia Savarirayan type" RELATED [GARD:0010584] synonym: "mesomelic dysplasia with absent fibulas and triangular tibias" EXACT [OMIM:605274, Orphanet:85170] -synonym: "mesomelic dysplasia, Savarirayan type" EXACT [OMIM:605274] +synonym: "mesomelic dysplasia, Savarirayan type" EXACT [icd11.foundation:1627637820, OMIM:605274, Orphanet:85170] synonym: "triangular tibia and fibular aplasia" RELATED [GARD:0010584] synonym: "triangular tibia-fibular aplasia syndrome" EXACT [Orphanet:85170] xref: GARD:10584 {source="MONDO:GARD"} @@ -260337,11 +260381,11 @@ subset: gard_rare {source="GARD:10698", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive Noonan syndrome" RELATED [GARD:0010698] -synonym: "Noonan syndrome 2" EXACT [MONDO:Lexical, OMIM:605275] +synonym: "Noonan syndrome 2" EXACT [DOID:0060580, MONDO:Lexical, NCIT:C176930, OMIM:605275] synonym: "Noonan syndrome autosomal recessive" RELATED [GARD:0010698] -synonym: "Noonan syndrome type 2" EXACT [DOID:0060580, MONDORULE:1, OMIM:605275] -synonym: "Noonan syndrome, autosomal recessive" RELATED [OMIM:605275] -synonym: "NS2" EXACT ABBREVIATION [DOID:0060580, MONDO:Lexical, OMIM:605275] +synonym: "Noonan syndrome type 2" EXACT [MONDORULE:1] +synonym: "Noonan syndrome, autosomal recessive" RELATED [] +synonym: "NS2" EXACT ABBREVIATION [DOID:0060580, MONDO:Lexical, NCIT:C176930, OMIM:605275] xref: DOID:0060580 {source="MONDO:equivalentTo"} xref: GARD:10698 {source="MONDO:GARD"} xref: MEDGEN:344290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -260365,12 +260409,12 @@ subset: orphanet_rare {source="Orphanet:100994"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 13" EXACT [DOID:0110766] -synonym: "autosomal dominant spastic paraplegia type 13" RELATED [Orphanet:100994] +synonym: "autosomal dominant spastic paraplegia type 13" RELATED [] synonym: "hereditary spastic paraplegia caused by mutation in HSPD1" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 13" EXACT [DOID:0110766, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 13" EXACT [MONDORULE:2] synonym: "HSPD1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 13" RELATED [GARD:0009616] -synonym: "spastic paraplegia 13, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605280] +synonym: "spastic paraplegia 13, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG13" EXACT ABBREVIATION [DOID:0110766, MONDO:Lexical, OMIM:605280, Orphanet:100994] xref: DOID:0110766 {source="MONDO:equivalentTo"} xref: GARD:9616 {source="MONDO:GARD"} @@ -260398,11 +260442,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies" RELATED [GARD:0009679] synonym: "mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies" RELATED DEPRECATED [GARD:0009679] -synonym: "preaxial brachydactyly syndrome, TEMTAMY type" EXACT [DOID:0050814] -synonym: "preaxial brachydactyly syndrome, Temtamy type" RELATED [OMIM:605282] -synonym: "TEMTAMY preaxial brachydactyly syndrome" RELATED [OMIM:605282] -synonym: "temtamy preaxial brachydactyly syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605282] -synonym: "TPBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605282] +synonym: "preaxial brachydactyly syndrome, TEMTAMY type" EXACT [DOID:0050814, OMIM:605282] +synonym: "preaxial brachydactyly syndrome, Temtamy type" RELATED [] +synonym: "TEMTAMY preaxial brachydactyly syndrome" RELATED [] +synonym: "temtamy preaxial brachydactyly syndrome" EXACT CLINGEN_LABEL [DOID:0050814, MONDO:Lexical, OMIM:605282, Orphanet:363417] +synonym: "TPBS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050814 {source="MONDO:equivalentTo"} xref: GARD:9679 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:363417/attributed", source="Orphanet:363417/ntbt", source="Orphanet:363417"} @@ -260437,16 +260481,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4G" EXACT [DOID:0110196] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4G" RELATED [OMIM:605285] -synonym: "Charcot-Marie-Tooth disease, type 4G" RELATED [OMIM:605285] +synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4G" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 4G" RELATED [] synonym: "Charcot-Marie-Tooth neuropathy type 4G" EXACT [DOID:0110196] -synonym: "Charcot-Marie-Tooth neuropathy, type 4G" RELATED [OMIM:605285] +synonym: "Charcot-Marie-Tooth neuropathy, type 4G" RELATED [] synonym: "CMT4G" EXACT ABBREVIATION [DOID:0110196, Orphanet:99953] synonym: "hereditary motor and sensory neuropathy Russe type" EXACT [DOID:0110196] synonym: "hereditary motor and sensory neuropathy, Russe type" EXACT [OMIM:605285, Orphanet:99953] synonym: "HK1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HMSNR" EXACT ABBREVIATION [DOID:0110196, MONDO:Lexical, OMIM:605285, Orphanet:99953] -synonym: "neuropathy, hereditary motor and sensory, Russe type" RELATED [MONDO:Lexical, OMIM:605285] +synonym: "neuropathy, hereditary motor and sensory, Russe type" RELATED [MONDO:Lexical] xref: DOID:0110196 {source="MONDO:equivalentTo"} xref: GARD:10132 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:99953", source="Orphanet:99953/attributed", source="Orphanet:99953/ntbt", source="DOID:0110196"} @@ -260475,9 +260519,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "SHFM4" EXACT ABBREVIATION [DOID:0090023, MONDO:Lexical, OMIM:605289] synonym: "split hand-foot malformation caused by mutation in TP63" EXACT [MONDO:design_pattern] -synonym: "split hand-foot malformation type 4" EXACT [DOID:0090023, MONDORULE:1] -synonym: "split-hand/foot malformation 4" RELATED [MONDO:Lexical, OMIM:605289] -synonym: "split-hand/foot malformation type 4" EXACT [MONDORULE:1, OMIM:605289] +synonym: "split hand-foot malformation type 4" EXACT [MONDORULE:1] +synonym: "split-hand/foot malformation 4" RELATED [MONDO:Lexical] +synonym: "split-hand/foot malformation type 4" EXACT [MONDORULE:1] synonym: "TP63 split hand-foot malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090023 {source="MONDO:equivalentTo"} xref: GARD:15378 {source="MONDO:GARD"} @@ -260499,8 +260543,8 @@ id: MONDO:0011536 name: optic atrophy 4 subset: gard_rare {source="GARD:15379", source="MONDO:GARD"} subset: rare -synonym: "OPA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605293] -synonym: "optic atrophy 4" EXACT [MONDO:Lexical, OMIM:605293] +synonym: "OPA4" EXACT ABBREVIATION [DOID:0111440, MONDO:Lexical, OMIM:605293] +synonym: "optic atrophy 4" EXACT [DOID:0111440, MONDO:Lexical, OMIM:605293] xref: DOID:0111440 {source="MONDO:equivalentTo"} xref: GARD:15379 {source="MONDO:GARD"} xref: MEDGEN:340236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -260520,8 +260564,8 @@ subset: ordo_disorder {source="Orphanet:210548"} subset: orphanet_rare {source="Orphanet:210548"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "macrocephaly-intellectual disability-autism syndrome" EXACT [DOID:0060867] -synonym: "macrocephaly/autism syndrome" RELATED [OMIM:605309] +synonym: "macrocephaly-intellectual disability-autism syndrome" EXACT [DOID:0060867, Orphanet:210548] +synonym: "macrocephaly/autism syndrome" RELATED [] xref: DOID:0060867 {source="MONDO:equivalentTo"} xref: GARD:17112 {source="MONDO:GARD"} xref: MEDGEN:381416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -260556,14 +260600,14 @@ subset: ordo_disorder {source="Orphanet:98902"} subset: orphanet_rare {source="Orphanet:98902"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Amish nemaline myopathy" EXACT [DOID:0110936] +synonym: "Amish nemaline myopathy" EXACT [DOID:0110936, OMIM:605355, Orphanet:98902] synonym: "ANM" EXACT ABBREVIATION [DOID:0110936] -synonym: "NEM5" EXACT ABBREVIATION [DOID:0110936, MONDO:Lexical, OMIM:605355] -synonym: "nemaline myopathy 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605355] +synonym: "NEM5" EXACT ABBREVIATION [DOID:0110936, MONDO:Lexical] +synonym: "nemaline myopathy 5" EXACT CLINGEN_LABEL [MONDO:Lexical] synonym: "nemaline myopathy 5, Amish type" EXACT [DOID:0110936] synonym: "nemaline myopathy caused by mutation in TNNT1" EXACT [MONDO:design_pattern] -synonym: "nemaline myopathy type 5" EXACT [DOID:0110936, MONDORULE:1, OMIM:605355] -synonym: "nemaline myopathy, Amish type" RELATED [OMIM:605355] +synonym: "nemaline myopathy type 5" EXACT [MONDORULE:1] +synonym: "nemaline myopathy, Amish type" RELATED [] synonym: "nemaline myopathy, caused by mutation in the troponin t1 gene" RELATED [GARD:0008334] synonym: "TNNT1 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110936 {source="MONDO:equivalentTo"} @@ -260590,8 +260634,8 @@ subset: orphanet_rare {source="Orphanet:98763"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605361, Orphanet:98763] -synonym: "spinocerebellar ataxia 14" RELATED [MONDO:Lexical, OMIM:605361] -synonym: "spinocerebellar ataxia type 14" EXACT [MONDORULE:2, OMIM:605361] +synonym: "spinocerebellar ataxia 14" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 14" EXACT [DOID:0050964, icd11.foundation:736357100, MONDORULE:2, Orphanet:98763] xref: DOID:0050964 {source="MONDO:equivalentTo"} xref: GARD:9867 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:98763", source="Orphanet:98763/attributed", source="Orphanet:98763/ntbt"} @@ -260617,17 +260661,17 @@ subset: orphanet_rare {source="Orphanet:217622"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant dilated cardiomyopathy with sensorineural hearing loss" EXACT [DOID:0110440] -synonym: "cardiomyopathy, dilated, 1J" RELATED [MONDO:Lexical, OMIM:605362] -synonym: "cardiomyopathy, dilated, type 1J" EXACT [MONDORULE:4, OMIM:605362] -synonym: "cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant" RELATED [OMIM:605362] +synonym: "cardiomyopathy, dilated, 1J" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1J" EXACT [MONDORULE:4] +synonym: "cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant" RELATED [] synonym: "CMD1J" EXACT ABBREVIATION [DOID:0110440, MONDO:Lexical, OMIM:605362] -synonym: "dilated cardiomyopathy 1J" EXACT CLINGEN_LABEL [] -synonym: "dilated cardiomyopathy type 1J" EXACT [DOID:0110440, MONDORULE:4] +synonym: "dilated cardiomyopathy 1J" EXACT CLINGEN_LABEL [DOID:0110440] +synonym: "dilated cardiomyopathy type 1J" EXACT [MONDORULE:4] synonym: "EYA4 familial dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial dilated cardiomyopathy caused by mutation in EYA4" EXACT [MONDO:design_pattern] synonym: "neurosensory deafness with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622] synonym: "neurosensory hearing loss with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622] -synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT [DOID:0110440] +synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622] synonym: "sensorineural hearing loss with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622] xref: DOID:0110440 {source="MONDO:equivalentTo"} xref: GARD:17128 {source="MONDO:GARD"} @@ -260647,8 +260691,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011542 name: psoriasis 6, susceptibility to synonym: "psoriasis 6, susceptibility to" EXACT [MONDO:Lexical, OMIM:605364] -synonym: "psoriasis susceptibility 6" EXACT [OMIM:605364, OMIM:genemap2] -synonym: "PSORS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605364] +synonym: "psoriasis susceptibility 6" EXACT [] +synonym: "PSORS6" EXACT ABBREVIATION [DOID:0111290, MONDO:Lexical, OMIM:605364] xref: DOID:0111290 {source="MONDO:equivalentTo"} xref: MEDGEN:343103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605364 {source="MONDO:equivalentTo"} @@ -260663,10 +260707,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011543 name: obsolete BRCA3 comment: See https://omim.org/entry/114480 -synonym: "BRCA3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605365] -synonym: "Brcax" RELATED [OMIM:605365] -synonym: "breast cancer 3" RELATED [MONDO:Lexical, OMIM:605365] -synonym: "moved to 114480" RELATED [OMIM:605365] +synonym: "BRCA3" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "Brcax" RELATED [] +synonym: "breast cancer 3" RELATED [MONDO:Lexical] +synonym: "moved to 114480" RELATED [] xref: MESH:C565336 {source="MONDO:obsoleteEquivalent"} xref: OMIM:605365 {source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:227535 {source="OMIM:605365"} @@ -260681,11 +260725,11 @@ def: "Any paraganglioma in which the cause of the disease is a mutation in the S subset: gard_rare {source="GARD:10545", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "glomus tumors, familial, 3" RELATED [OMIM:605373] +synonym: "glomus tumors, familial, 3" RELATED [] synonym: "paraganglioma caused by mutation in SDHC" EXACT [MONDO:design_pattern] synonym: "paragangliomas 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605373] -synonym: "paragangliomas type 3" EXACT [MONDORULE:1, OMIM:605373] -synonym: "PGL3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605373] +synonym: "paragangliomas type 3" EXACT [MONDORULE:1] +synonym: "PGL3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SDHC paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)" RELATED [GARD:0010545] xref: GARD:10545 {source="MONDO:GARD"} @@ -260709,11 +260753,11 @@ subset: gard_rare {source="GARD:15380", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 3" EXACT [DOID:0060684, MONDORULE:1] +synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 3" EXACT [MONDORULE:1] synonym: "CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ENFL3" EXACT ABBREVIATION [DOID:0060684, MONDO:Lexical, OMIM:605375] -synonym: "epilepsy, nocturnal frontal lobe, 3" RELATED [MONDO:Lexical, OMIM:605375] -synonym: "epilepsy, nocturnal frontal lobe, type 3" EXACT [MONDORULE:1, OMIM:605375] +synonym: "epilepsy, nocturnal frontal lobe, 3" RELATED [MONDO:Lexical] +synonym: "epilepsy, nocturnal frontal lobe, type 3" EXACT [MONDORULE:1] synonym: "nocturnal frontal lobe epilepsy 3" EXACT [DOID:0060684] xref: DOID:0060684 {source="MONDO:equivalentTo"} xref: GARD:15380 {source="MONDO:GARD"} @@ -260734,11 +260778,11 @@ name: heterotaxy, visceral, 2, autosomal subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DTGA2" EXACT ABBREVIATION [OMIM:605376] +synonym: "DTGA2" EXACT ABBREVIATION [] synonym: "heterotaxy, visceral, 2, autosomal" EXACT [MONDO:Lexical, OMIM:605376] -synonym: "Htx" RELATED [OMIM:605376] -synonym: "HTX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605376] -synonym: "transposition of the great arteries, dextro-looped 2" EXACT [OMIM:605376] +synonym: "Htx" RELATED [] +synonym: "HTX2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "transposition of the great arteries, dextro-looped 2" EXACT [] xref: MEDGEN:237904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605376 {source="MONDO:equivalentTo"} xref: Orphanet:450 {source="OMIM:605376"} @@ -260755,8 +260799,8 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 31, multiple types" RELATED [MONDO:Lexical, OMIM:605387] -synonym: "cataract, posterior polar, 3" RELATED [OMIM:605387] +synonym: "cataract 31, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract, posterior polar, 3" RELATED [] synonym: "CHMP4B early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CPP3" NARROW ABBREVIATION [DOID:0110265] synonym: "CTPP3" NARROW ABBREVIATION [DOID:0110265] @@ -260780,8 +260824,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011548 name: cerebral palsy, ataxic, autosomal recessive -synonym: "Acp" RELATED [OMIM:605388] -synonym: "ataxic cerebral palsy" RELATED [GARD:0010451, OMIM:605388] +synonym: "Acp" RELATED [] +synonym: "ataxic cerebral palsy" RELATED [GARD:0010451] synonym: "cerebral palsy ataxic" RELATED [GARD:0010451] synonym: "cerebral palsy, ataxic, autosomal recessive" EXACT [OMIM:605388] xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -260799,12 +260843,12 @@ subset: rare synonym: "APCDD1 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary generalised hypotrichosis simplex" EXACT OMO:0003005 [] synonym: "hereditary generalized hypotrichosis simplex" EXACT [DOID:0110698] -synonym: "HHS" BROAD ABBREVIATION [DOID:0110698] +synonym: "HHS" BROAD ABBREVIATION [] synonym: "HTS" EXACT ABBREVIATION [DOID:0110698, OMIM:605389] -synonym: "hypotrichosis 1" EXACT [MONDO:Lexical, OMIM:605389] +synonym: "hypotrichosis 1" EXACT [DOID:0110698, MONDO:Lexical, OMIM:605389] synonym: "hypotrichosis caused by mutation in APCDD1" EXACT [MONDO:design_pattern] -synonym: "hypotrichosis simplex, generalized, hereditary" RELATED [OMIM:605389] -synonym: "hypotrichosis type 1" EXACT [DOID:0110698, MONDORULE:1, OMIM:605389] +synonym: "hypotrichosis simplex, generalized, hereditary" RELATED [] +synonym: "hypotrichosis type 1" EXACT [MONDORULE:1] synonym: "HYPT1" EXACT ABBREVIATION [DOID:0110698, MONDO:Lexical, OMIM:605389] xref: DOID:0110698 {source="MONDO:equivalentTo"} xref: MEDGEN:1644234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -260820,7 +260864,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011550 name: fibromatosis, gingival, with hypertrichosis and intellectual disability -synonym: "fibromatosis, gingival, with hypertrichosis and intellectual disability" EXACT [OMIM:605400] +synonym: "fibromatosis, gingival, with hypertrichosis and intellectual disability" EXACT [] synonym: "fibromatosis, gingival, with hypertrichosis and mental retardation" EXACT DEPRECATED [OMIM:605400] xref: MEDGEN:344255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565331 {source="MONDO:equivalentTo"} @@ -260838,18 +260882,18 @@ subset: ordo_disorder {source="Orphanet:101150"} subset: orphanet_rare {source="Orphanet:101150"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive dopa-responsive dystonia" EXACT [https://orcid.org/0000-0002-5655-9589] +synonym: "autosomal recessive dopa-responsive dystonia" EXACT [https://orcid.org/0000-0002-5655-9589, Orphanet:101150] synonym: "autosomal recessive Segawa syndrome" EXACT [Orphanet:101150] synonym: "DOPA responsive dystonia, autosomal recessive" RELATED [GARD:0001902] synonym: "Dopa-responsive dystonia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:605407] -synonym: "dopa-responsive dystonia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] +synonym: "dopa-responsive dystonia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:605407] synonym: "dystonia, DOPA responsive, autosomal recessive" RELATED [GARD:0001902] -synonym: "dystonia, Dopa-responsive, autosomal recessive" RELATED [OMIM:605407] +synonym: "dystonia, Dopa-responsive, autosomal recessive" RELATED [] synonym: "DYT5b" EXACT [Orphanet:101150] -synonym: "Parkinsonism, infantile, autosomal recessive" RELATED [OMIM:605407] -synonym: "Segawa syndrome, autosomal recessive" RELATED [OMIM:605407] -synonym: "Segawa syndrome, recessive" EXACT [OMIM:605407, OMIM:genemap2] -synonym: "Tyrosine Hydroxylase Deficiency" EXACT [NORD:1810] +synonym: "Parkinsonism, infantile, autosomal recessive" RELATED [] +synonym: "Segawa syndrome, autosomal recessive" RELATED [] +synonym: "Segawa syndrome, recessive" EXACT [] +synonym: "Tyrosine Hydroxylase Deficiency" EXACT [NORD:1810, OMIM:605407, Orphanet:101150] synonym: "tyrosine hydroxylase-deficient dopa-responsive dystonia" EXACT [Orphanet:101150] xref: GARD:1902 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="Orphanet:101150/attributed", source="Orphanet:101150/ntbt", source="Orphanet:101150"} @@ -260873,9 +260917,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011552 name: schizophrenia 10 def: "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15." [DOID:0070086] -synonym: "catatonia, periodic" RELATED [OMIM:605419] -synonym: "schizophrenia 10" EXACT [MONDO:Lexical, OMIM:605419] -synonym: "schizophrenia susceptibility locus, chromosome 15Q15-related" RELATED [OMIM:605419] +synonym: "catatonia, periodic" RELATED [] +synonym: "schizophrenia 10" EXACT [DOID:0070086, MONDO:Lexical, OMIM:605419] +synonym: "schizophrenia susceptibility locus, chromosome 15Q15-related" RELATED [] synonym: "SCZD10" EXACT ABBREVIATION [DOID:0070086, MONDO:Lexical, OMIM:605419] xref: DOID:0070086 {source="MONDO:equivalentTo"} xref: MEDGEN:107776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -260891,11 +260935,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22599", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 26" NARROW [DOID:0110484] -synonym: "autosomal recessive nonsyndromic deafness 26" NARROW [OMIM:605428] -synonym: "autosomal recessive nonsyndromic deafness type 26" NARROW [DOID:0110484, MONDORULE:2] -synonym: "deafness, autosomal recessive 26" NARROW [MONDO:Lexical, OMIM:605428, OMIM:genemap2] -synonym: "DFNB26" NARROW ABBREVIATION [DOID:0110484, MONDO:Lexical, OMIM:605428] +synonym: "autosomal recessive deafness 26" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 26" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 26" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 26" NARROW [MONDO:Lexical] +synonym: "DFNB26" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110484 {source="MONDO:equivalentTo"} xref: GARD:22599 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110484"} @@ -260911,14 +260955,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011554 name: obsolete deafness, nonsyndromic, modifier 1 comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "deafness, autosomal recessive 26, modifier OF" RELATED [OMIM:605429] -synonym: "deafness, autosomal recessive 26, modifier of" RELATED [OMIM:605429] -synonym: "deafness, nonsyndromic, modifier 1" EXACT [MONDO:Lexical, OMIM:605429] -synonym: "deafness, nonsyndromic, modifier Of, 1" RELATED [OMIM:605429] -synonym: "Dfnb26, modifier of" RELATED [OMIM:605429] -synonym: "Dfnb26, suppressor of" RELATED [OMIM:605429] -synonym: "DFNB26M" RELATED ABBREVIATION [OMIM:605429] -synonym: "DFNM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605429] +synonym: "deafness, autosomal recessive 26, modifier OF" RELATED [] +synonym: "deafness, autosomal recessive 26, modifier of" RELATED [] +synonym: "deafness, nonsyndromic, modifier 1" EXACT [MONDO:Lexical] +synonym: "deafness, nonsyndromic, modifier Of, 1" RELATED [] +synonym: "Dfnb26, modifier of" RELATED [] +synonym: "Dfnb26, suppressor of" RELATED [] +synonym: "DFNB26M" RELATED ABBREVIATION [] +synonym: "DFNM1" EXACT ABBREVIATION [MONDO:Lexical] xref: OMIM:605429 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -260936,8 +260980,8 @@ subset: orphanet_rare {source="Orphanet:71289"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ATRUS syndrome" EXACT [Orphanet:71289] -synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia" RELATED [MONDO:Lexical, OMIM:605432] -synonym: "RUSAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605432] +synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia" RELATED [MONDO:Lexical] +synonym: "RUSAT" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16687 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:71289/attributed", source="Orphanet:71289/ntbt", source="Orphanet:71289"} xref: MEDGEN:340183 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -260957,9 +261001,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011556 name: basal cell carcinoma, susceptibility to, 1 subset: predisposition -synonym: "basal cell carcinoma, multiple" RELATED [OMIM:605462] -synonym: "basal cell carcinoma, nonsyndromic" RELATED [OMIM:605462] -synonym: "basal cell carcinoma, somatic" EXACT [OMIM:605462, OMIM:genemap2] +synonym: "basal cell carcinoma, multiple" RELATED [] +synonym: "basal cell carcinoma, nonsyndromic" RELATED [] +synonym: "basal cell carcinoma, somatic" EXACT [] synonym: "basal cell carcinoma, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:605462] synonym: "BCC1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605462] synonym: "multiple basal cell carcinoma" RELATED [GARD:0009303] @@ -260993,16 +261037,16 @@ def: "A form of Usher syndrome type 2 that features a heterozygous frameshift mu subset: gard_rare {source="GARD:8497", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "USH2C" EXACT ABBREVIATION [DOID:0110839, MONDO:Lexical, OMIM:605472] +synonym: "USH2C" EXACT ABBREVIATION [DOID:0110839, MONDO:Lexical, NCIT:C153174, OMIM:605472] synonym: "Usher syndrome type IIC" EXACT [DOID:0110839] synonym: "Usher syndrome, type 2C" RELATED [GARD:0008497] -synonym: "Usher syndrome, type 2C, autosomal recessive, digenic dominant" EXACT [OMIM:605472, OMIM:genemap2] -synonym: "Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant" EXACT [OMIM:605472, OMIM:genemap2] -synonym: "Usher syndrome, type IIb" RELATED [OMIM:605472] -synonym: "Usher syndrome, type IIb, formerly" RELATED [OMIM:605472] -synonym: "USHER syndrome, type IIC" RELATED [MONDO:Lexical, OMIM:605472] -synonym: "Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant" EXACT [OMIM:605472, OMIM:genemap2] -synonym: "Usher syndrome, type IIc, Gpr98/Pdzd7, digenic" RELATED [OMIM:605472] +synonym: "Usher syndrome, type 2C, autosomal recessive, digenic dominant" EXACT [] +synonym: "Usher syndrome, type 2C, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant" EXACT [] +synonym: "Usher syndrome, type IIb" RELATED [] +synonym: "Usher syndrome, type IIb, formerly" RELATED [] +synonym: "USHER syndrome, type IIC" RELATED [MONDO:Lexical] +synonym: "Usher syndrome, type IIC, GPR98/PDZD7 digenic, autosomal recessive, digenic dominant" EXACT [] +synonym: "Usher syndrome, type IIc, Gpr98/Pdzd7, digenic" RELATED [] xref: DOID:0110839 {source="MONDO:equivalentTo"} xref: GARD:8497 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110839"} @@ -261031,8 +261075,8 @@ synonym: "benign recurrent intrahepatic cholestasis 2" RELATED [GARD:0010029] synonym: "Bric type 2" EXACT [DOID:0070232, Orphanet:99961] synonym: "BRIC2" EXACT ABBREVIATION [DOID:0070232, GARD:0010029, MONDO:Lexical, OMIM:605479, Orphanet:99961] synonym: "cholestasis, benign recurrent intrahepatic 2" RELATED [GARD:0010029] -synonym: "cholestasis, benign recurrent intrahepatic, 2" RELATED [MONDO:Lexical, OMIM:605479] -synonym: "cholestasis, benign recurrent intrahepatic, type 2" EXACT [MONDORULE:1, OMIM:605479] +synonym: "cholestasis, benign recurrent intrahepatic, 2" RELATED [MONDO:Lexical] +synonym: "cholestasis, benign recurrent intrahepatic, type 2" EXACT [MONDORULE:1] synonym: "mild ABCB11 deficiency" RELATED [GARD:0010029] synonym: "recurrent familial intrahepatic cholestasis 2" RELATED [GARD:0010029] xref: DOID:0070232 {source="MONDO:equivalentTo"} @@ -261072,11 +261116,11 @@ subset: rare synonym: "AD6" EXACT ABBREVIATION [DOID:0110038, OMIM:605526] synonym: "Alzheimer disease 6" EXACT [DOID:0110038, OMIM:605526] synonym: "Alzheimer disease 6, late onset" EXACT [DOID:0110038] -synonym: "Alzheimer disease 6, late-onset" RELATED [OMIM:605526] -synonym: "Alzheimer disease type 6" EXACT [MONDORULE:1, OMIM:605526] -synonym: "Alzheimer's disease 6" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 6" EXACT [DOID:0110038, MONDORULE:1] -synonym: "plasma Beta-amyloid-42 level quantitative trait locus" RELATED [OMIM:605526] +synonym: "Alzheimer disease 6, late-onset" RELATED [] +synonym: "Alzheimer disease type 6" EXACT [MONDORULE:1] +synonym: "Alzheimer's disease 6" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110038, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 6" EXACT [MONDORULE:1] +synonym: "plasma Beta-amyloid-42 level quantitative trait locus" RELATED [] xref: DOID:0110038 {source="MONDO:equivalentTo"} xref: GARD:16509 {source="MONDO:GARD"} xref: ICD10CM:G30 {source="DOID:0110038"} @@ -261095,12 +261139,12 @@ subset: gard_rare {source="GARD:18475", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant Lewy body Parkinson disease 4" EXACT [DOID:0060895] -synonym: "autosomal dominant Parkinson disease 4" EXACT CLINGEN_LABEL [] -synonym: "autosomal dominant Parkinson disease type 4" EXACT [DOID:0060895, MONDORULE:1] -synonym: "autosomal dominant Parkinson's disease 4" RELATED [DOID:0060895] -synonym: "PARK4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605543] -synonym: "Parkinson disease 4, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605543] -synonym: "Parkinson disease 4, autosomal dominant Lewy body" RELATED [OMIM:605543] +synonym: "autosomal dominant Parkinson disease 4" EXACT CLINGEN_LABEL [DOID:0060895] +synonym: "autosomal dominant Parkinson disease type 4" EXACT [MONDORULE:1] +synonym: "autosomal dominant Parkinson's disease 4" RELATED [] +synonym: "PARK4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Parkinson disease 4, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "Parkinson disease 4, autosomal dominant Lewy body" RELATED [] xref: DOID:0060895 {source="MONDO:equivalentTo"} xref: GARD:18475 {source="MONDO:GARD"} xref: ICD10CM:G20 {source="DOID:0060895"} @@ -261122,8 +261166,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "fibromatosis gingival, hereditary, 2" RELATED [GARD:0002474] synonym: "fibromatosis, gingival, 2" EXACT [MONDO:Lexical, OMIM:605544] -synonym: "fibromatosis, gingival, hereditary, 2" RELATED [OMIM:605544] -synonym: "GGF2" RELATED ABBREVIATION [OMIM:605544] +synonym: "fibromatosis, gingival, hereditary, 2" RELATED [] +synonym: "GGF2" RELATED ABBREVIATION [] synonym: "GINGF2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605544] synonym: "gingival fibromatosis, 2" RELATED [GARD:0002474] synonym: "hereditary gingival fibromatosis, 2" RELATED [GARD:0002474] @@ -261143,8 +261187,8 @@ def: "A cone-rod dystrophy that has material basis in variation in the chromosom subset: gard_rare {source="GARD:15381", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 8" EXACT [MONDO:Lexical, OMIM:605549] -synonym: "cone-rod dystrophy type 8" EXACT [DOID:0111014, MONDORULE:1] +synonym: "cone-rod dystrophy 8" EXACT [DOID:0111014, MONDO:Lexical, OMIM:605549] +synonym: "cone-rod dystrophy type 8" EXACT [MONDORULE:1] synonym: "CORD8" EXACT ABBREVIATION [DOID:0111014, MONDO:Lexical, OMIM:605549] xref: DOID:0111014 {source="MONDO:equivalentTo"} xref: GARD:15381 {source="MONDO:GARD"} @@ -261162,12 +261206,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "abdominal obesity metabolic syndrome" RELATED [GARD:0009226] synonym: "abdominal obesity-metabolic syndrome 1" EXACT [DOID:14221, MONDO:Lexical, OMIM:605552] -synonym: "abdominal obesity-metabolic syndrome quantitative trait locus 1" RELATED [OMIM:605552] -synonym: "AOMS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605552] +synonym: "abdominal obesity-metabolic syndrome quantitative trait locus 1" RELATED [] +synonym: "AOMS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "dysmetabolic syndrome X" EXACT [DOID:14221] -synonym: "metabolic syndrome 10" RELATED [OMIM:605552] -synonym: "metabolic syndrome type X" EXACT [DOID:14221, MONDORULE:1] -synonym: "metabolic syndrome, protection against" RELATED [OMIM:605552] +synonym: "metabolic syndrome 10" RELATED [] +synonym: "metabolic syndrome type X" EXACT [MONDORULE:1] +synonym: "metabolic syndrome, protection against" RELATED [] xref: DOID:14221 {source="MONDO:equivalentTo"} xref: ICD10CM:E88.81 {source="DOID:14221"} xref: ICD9:277.7 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:14221"} @@ -261187,10 +261231,10 @@ id: MONDO:0011566 name: abdominal obesity-metabolic syndrome quantitative trait locus 2 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Abdominal obesity-metabolic syndrome" EXACT [OMIM:605572, OMIM:genemap2] +synonym: "Abdominal obesity-metabolic syndrome" EXACT [] synonym: "abdominal obesity-metabolic syndrome quantitative trait locus 2" EXACT [OMIM:605572] -synonym: "abdominal obesity-metabolic syndrome quantitative trait locus type 2" EXACT [MONDORULE:1, OMIM:605572] -synonym: "Aoms2" RELATED [OMIM:605572] +synonym: "abdominal obesity-metabolic syndrome quantitative trait locus type 2" EXACT [MONDORULE:1] +synonym: "Aoms2" RELATED [] xref: MEDGEN:344224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605572 {source="MONDO:equivalentTo"} xref: UMLS:C1854170 {source="MONDO:equivalentTo", source="MEDGEN:344224", source="MONDO:MEDGEN"} @@ -261205,9 +261249,9 @@ def: "A dilated cardiomyopathy that has material basis in variation in the chrom subset: gard_rare {source="GARD:15382", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1K" RELATED [MONDO:Lexical, OMIM:605582] +synonym: "cardiomyopathy, dilated, 1K" RELATED [MONDO:Lexical] synonym: "CMD1K" EXACT ABBREVIATION [DOID:0110437, MONDO:Lexical, OMIM:605582] -synonym: "dilated cardiomyopathy type 1K" EXACT [DOID:0110437, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1K" EXACT [MONDORULE:4] xref: DOID:0110437 {source="MONDO:equivalentTo"} xref: GARD:15382 {source="MONDO:GARD"} xref: ICD10CM:I42.0 {source="DOID:0110437"} @@ -261225,13 +261269,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18112", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 25" NARROW [DOID:0110555] -synonym: "autosomal dominant nonsyndromic deafness 25" NARROW [OMIM:605583] +synonym: "autosomal dominant deafness 25" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 25" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 25" NARROW [DOID:0110555, MONDORULE:2] -synonym: "deafness, autosomal dominant 25" NARROW [MONDO:Lexical, OMIM:605583, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 25" NARROW [MONDORULE:2, OMIM:605583] -synonym: "DFNA25" NARROW ABBREVIATION [DOID:0110555, MONDO:Lexical, OMIM:605583] +synonym: "autosomal dominant nonsyndromic deafness type 25" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 25" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 25" NARROW [MONDORULE:2] +synonym: "DFNA25" NARROW ABBREVIATION [MONDO:Lexical] synonym: "SLC17A8 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110555 {source="MONDO:equivalentTo"} xref: GARD:18112 {source="MONDO:GARD"} @@ -261258,20 +261302,20 @@ subset: ordo_disorder {source="Orphanet:98856"} subset: orphanet_rare {source="Orphanet:98856"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AR-CMT2B1" EXACT [Orphanet:98856] +synonym: "AR-CMT2B1" EXACT ABBREVIATION [Orphanet:98856] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1" EXACT [DOID:0110156] synonym: "autosomal recessive axonal CMT4C1" EXACT [DOID:0110156, Orphanet:98856] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B1" EXACT [DOID:0110156, Orphanet:98856] synonym: "Charcot Marie Tooth disease type 2B1" RELATED [GARD:0008548] synonym: "Charcot-Marie-Tooth disease neuronal type 2B1" EXACT [DOID:0110156] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1" RELATED [OMIM:605588] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1" RELATED [OMIM:605588] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2B1" RELATED [GARD:0008548, MONDO:Lexical, OMIM:605588] -synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B1" RELATED [OMIM:605588] -synonym: "Charcot-Marie-Tooth disease, type 2B1" EXACT [OMIM:605588, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2B1" RELATED [GARD:0008548, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B1" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 2B1" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2B1" EXACT [DOID:0110156] -synonym: "Charcot-Marie-Tooth neuropathy, type 2B1" RELATED [OMIM:605588] +synonym: "Charcot-Marie-Tooth neuropathy, type 2B1" RELATED [] synonym: "CMT 2B1" RELATED [GARD:0008548] synonym: "CMT2B1" EXACT ABBREVIATION [DOID:0110156, MONDO:Lexical, OMIM:605588] synonym: "LMNA Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -261305,22 +261349,22 @@ subset: ordo_disorder {source="Orphanet:101101"} subset: orphanet_rare {source="Orphanet:101101"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AR-CMT2B2" EXACT [DOID:0110179, Orphanet:101101] -synonym: "ARCMT2B" EXACT ABBREVIATION [DOID:0110179] -synonym: "Arcmt2B" RELATED [OMIM:605589] +synonym: "AR-CMT2B2" EXACT ABBREVIATION [DOID:0110179, Orphanet:101101] +synonym: "ARCMT2B" EXACT ABBREVIATION [DOID:0110179, OMIM:605589] +synonym: "Arcmt2B" RELATED [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2" EXACT [DOID:0110179, Orphanet:101101] synonym: "autosomal recessive axonal CMT4C3" EXACT [DOID:0110179, Orphanet:101101] synonym: "Charcot Marie Tooth disease type 2B2" RELATED [GARD:0001249] synonym: "Charcot-Marie-Tooth disease neuronal type 2B2" EXACT [DOID:0110179] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MED25" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease type 2B2" EXACT CLINGEN_LABEL [] +synonym: "Charcot-Marie-Tooth disease type 2B2" EXACT CLINGEN_LABEL [DOID:0110179, icd11.foundation:2009111705, Orphanet:101101] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2" RELATED [GARD:0001249] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2" RELATED [OMIM:605589] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2B2" RELATED [GARD:0001249, MONDO:Lexical, OMIM:605589] -synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B2" RELATED [OMIM:605589] -synonym: "Charcot-Marie-Tooth disease, type 2B2" EXACT [OMIM:605589, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2B2" RELATED [GARD:0001249, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, neuronal, type 2B2" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 2B2" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2B2" EXACT [DOID:0110179] -synonym: "Charcot-Marie-Tooth neuropathy, type 2B2" RELATED [OMIM:605589] +synonym: "Charcot-Marie-Tooth neuropathy, type 2B2" RELATED [] synonym: "CMT 2B2" RELATED [GARD:0001249] synonym: "CMT2B2" EXACT ABBREVIATION [DOID:0110179, MONDO:Lexical, OMIM:605589] synonym: "MED25 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -261349,12 +261393,12 @@ name: deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 subset: gard_rare {source="GARD:15383", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness, autosomal dominant 39, with dentinogenesis" NARROW [OMIM:605594, OMIM:genemap2] +synonym: "deafness, autosomal dominant 39, with dentinogenesis" NARROW [] synonym: "deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" EXACT [OMIM:605594] -synonym: "deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1" EXACT [MONDORULE:1, OMIM:605594] -synonym: "Dfna39/dentinogenesis imperfecta 1 syndrome" RELATED [OMIM:605594] -synonym: "Dfna39/Dgi1 syndrome" RELATED [OMIM:605594] -synonym: "Dgi1/Dfna39 syndrome" RELATED [OMIM:605594] +synonym: "deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1" EXACT [MONDORULE:1] +synonym: "Dfna39/dentinogenesis imperfecta 1 syndrome" RELATED [] +synonym: "Dfna39/Dgi1 syndrome" RELATED [] +synonym: "Dgi1/Dfna39 syndrome" RELATED [] xref: GARD:15383 {source="MONDO:GARD"} xref: MEDGEN:340145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565316 {source="MONDO:equivalentTo"} @@ -261369,8 +261413,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011572 name: type 1 diabetes mellitus 18 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1." [DOID:0110755, MONDO:patterns/inherited_susceptibility, PMID:11175794] -synonym: "diabetes mellitus, insulin-dependent, 18" RELATED [MONDO:Lexical, OMIM:605598] -synonym: "IDDM18" EXACT ABBREVIATION [DOID:0110755, MONDO:Lexical, OMIM:605598] +synonym: "diabetes mellitus, insulin-dependent, 18" RELATED [MONDO:Lexical] +synonym: "IDDM18" EXACT ABBREVIATION [DOID:0110755, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 18" EXACT [DOID:0110755, OMIM:605598] xref: DOID:0110755 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110755"} @@ -261388,9 +261432,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011573 name: psoriasis 7, susceptibility to synonym: "psoriasis 7, susceptibility to" EXACT [MONDO:Lexical, OMIM:605606] -synonym: "psoriasis susceptibility 7" EXACT [OMIM:605606, OMIM:genemap2] -synonym: "psoriasis, protection against" EXACT [OMIM:605606, OMIM:genemap2] -synonym: "PSORS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605606] +synonym: "psoriasis susceptibility 7" EXACT [] +synonym: "psoriasis, protection against" EXACT [] +synonym: "PSORS7" EXACT ABBREVIATION [DOID:0111279, MONDO:Lexical, OMIM:605606] xref: DOID:0111279 {source="MONDO:equivalentTo"} xref: MEDGEN:343057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605606 {source="MONDO:equivalentTo"} @@ -261423,7 +261467,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:66625"} subset: orphanet_rare {source="Orphanet:66625"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebrooculonasal syndrome" EXACT [OMIM:605627] +synonym: "cerebrooculonasal syndrome" EXACT [OMIM:605627, Orphanet:66625] xref: GARD:3480 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:66625/attributed", source="Orphanet:66625/ntbt", source="Orphanet:66625"} xref: MEDGEN:340138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -261448,13 +261492,13 @@ subset: orphanet_rare {source="Orphanet:404"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial adrenal adenoma" EXACT [Orphanet:404] -synonym: "familial hyperaldosteronism type 2" EXACT [Orphanet:404] -synonym: "FH 2" RELATED [OMIM:605635] -synonym: "FH-II" EXACT [Orphanet:404] +synonym: "familial hyperaldosteronism type 2" EXACT [NCIT:C127162, Orphanet:404] +synonym: "FH 2" RELATED [] +synonym: "FH-II" EXACT ABBREVIATION [Orphanet:404] synonym: "FH2" EXACT ABBREVIATION [Orphanet:404] synonym: "FHII" RELATED ABBREVIATION [GARD:0002789] -synonym: "HALD2" RELATED ABBREVIATION [OMIM:605635] -synonym: "hyperaldosteronism, familial, type II" RELATED [OMIM:605635] +synonym: "HALD2" RELATED ABBREVIATION [] +synonym: "hyperaldosteronism, familial, type II" RELATED [] xref: GARD:2789 {source="MONDO:GARD"} xref: ICD10CM:E26.0 {source="Orphanet:404/inclusion", source="Orphanet:404/ntbt", source="Orphanet:404"} xref: MEDGEN:340137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -261475,13 +261519,13 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "inclusion body myopathy 3, autosomal dominant" RELATED [OMIM:605637] -synonym: "inclusion body myopathy 3, autosomal dominant, formerly" RELATED [OMIM:605637] -synonym: "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" RELATED [OMIM:605637] -synonym: "MYOPATHY, proximal, and ophthalmoplegia" RELATED [OMIM:605637] -synonym: "myopathy, proximal, and ophthalmoplegia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605637] -synonym: "MYPOP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605637] -synonym: "proximal myopathy and ophthalmoplegia" EXACT [OMIM:605637, OMIM:genemap2] +synonym: "inclusion body myopathy 3, autosomal dominant" RELATED [] +synonym: "inclusion body myopathy 3, autosomal dominant, formerly" RELATED [] +synonym: "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" RELATED [] +synonym: "MYOPATHY, proximal, and ophthalmoplegia" RELATED [] +synonym: "myopathy, proximal, and ophthalmoplegia" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "MYPOP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "proximal myopathy and ophthalmoplegia" EXACT [DOID:0080719] xref: DOID:0080719 {source="MONDO:equivalentTo"} xref: MEDGEN:381340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565311 {source="MONDO:equivalentTo"} @@ -261505,10 +261549,11 @@ subset: ordo_disorder {source="Orphanet:97290"} subset: orphanet_rare {source="Orphanet:97290"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Prn1" RELATED [OMIM:605642] -synonym: "ptc-RCC" EXACT [Orphanet:97290] -synonym: "Ptcprn" RELATED [OMIM:605642] -synonym: "thyroid carcinoma, papillary, with papillary renal neoplasia" RELATED [OMIM:605642] +synonym: "Prn1" RELATED [] +synonym: "PTC-RCC" EXACT ABBREVIATION [Orphanet:97290] +synonym: "ptc-RCC" EXACT [] +synonym: "Ptcprn" RELATED [] +synonym: "thyroid carcinoma, papillary, with papillary renal neoplasia" RELATED [] xref: GARD:16853 {source="MONDO:GARD"} xref: ICD10CM:C64 {source="Orphanet:97290", source="Orphanet:97290/attributed", source="Orphanet:97290/ntbt"} xref: ICD10CM:C73 {source="Orphanet:97290", source="Orphanet:97290/attributed", source="Orphanet:97290/ntbt"} @@ -261531,10 +261576,10 @@ subset: orphanet_rare {source="Orphanet:67042"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant late-onset retinal degeneration" EXACT [DOID:0060869, Orphanet:67042] -synonym: "late-onset retinal degeneration" EXACT [MONDO:Lexical, OMIM:605670] +synonym: "late-onset retinal degeneration" EXACT [DOID:0060869, MONDO:Lexical, OMIM:605670, Orphanet:67042] synonym: "LORD" EXACT ABBREVIATION [DOID:0060869, MONDO:Lexical, OMIM:605670, Orphanet:67042] synonym: "pigmentary retinopathy" RELATED [GARD:0004357] -synonym: "retinal Degeneration, late-onset, autosomal dominant" RELATED [OMIM:605670] +synonym: "retinal Degeneration, late-onset, autosomal dominant" RELATED [] xref: DOID:0060869 {source="MONDO:equivalentTo"} xref: GARD:4357 {source="MONDO:GARD"} xref: MEDGEN:344198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -261577,22 +261622,22 @@ synonym: "arrhythmogenic cardiomyopathy with wooly hair and keratoderma" EXACT C synonym: "cardiomyopathy dilated with woolly hair and keratoderma" RELATED OMO:0003005 [] synonym: "cardiomyopathy dilated with wooly hair and keratoderma" RELATED [GARD:0005595] synonym: "cardiomyopathy, dilated, with woolly hair and keratoderma" RELATED OMO:0003005 [] -synonym: "cardiomyopathy, dilated, with wooly hair and keratoderma" RELATED [MONDO:Lexical, OMIM:605676] -synonym: "Carvajal syndrome" EXACT [DOID:0090128, Orphanet:65282] +synonym: "cardiomyopathy, dilated, with wooly hair and keratoderma" RELATED [MONDO:Lexical] +synonym: "Carvajal syndrome" EXACT [DOID:0090128, OMIM:605676, Orphanet:65282] synonym: "DCWHK" EXACT ABBREVIATION [DOID:0090128, MONDO:Lexical, OMIM:605676] -synonym: "dilated cardiomyopathy with woolly hair and keratoderma" EXACT OMO:0003005 [] +synonym: "dilated cardiomyopathy with woolly hair and keratoderma" EXACT OMO:0003005 [DOID:0090128] synonym: "dilated cardiomyopathy with wooly hair and keratoderma" EXACT [https://www.clinicalgenome.org/affiliation/40003/] synonym: "epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy" RELATED OMO:0003005 [] synonym: "epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy" RELATED [GARD:0005595] -synonym: "keratoderma with woolly hair type II" EXACT OMO:0003005 [] -synonym: "keratoderma with wooly hair type II" EXACT [Orphanet:65282] +synonym: "keratoderma with woolly hair type II" EXACT OMO:0003005 [Orphanet:65282] +synonym: "keratoderma with wooly hair type II" EXACT [] synonym: "KWWH type II" EXACT [Orphanet:65282] -synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" EXACT OMO:0003005 [] -synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair" EXACT [DOID:0090128, OMIM:605676] +synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" EXACT OMO:0003005 [DOID:0090128, OMIM:605676] +synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair" EXACT [] synonym: "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy" RELATED OMO:0003005 [] synonym: "woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome" RELATED OMO:0003005 [] -synonym: "woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT OMO:0003005 [] -synonym: "woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" EXACT OMO:0003005 [] +synonym: "woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT OMO:0003005 [Orphanet:65282] +synonym: "woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome" EXACT OMO:0003005 [Orphanet:65282] synonym: "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy" RELATED [GARD:0005595] synonym: "wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome" RELATED [GARD:0005595] synonym: "wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" EXACT [Orphanet:65282] @@ -261629,11 +261674,11 @@ subset: orphanet_rare {source="Orphanet:401869"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1" EXACT [MONDO:design_pattern] -synonym: "Mmds" BROAD [OMIM:605711] -synonym: "MMDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605711] -synonym: "multiple mitochondrial dysfunctions syndrome 1" EXACT [MONDO:Lexical, OMIM:605711] -synonym: "multiple mitochondrial dysfunctions syndrome type 1" EXACT [DOID:0080133, MONDORULE:1, OMIM:605711] -synonym: "NFU1 deficiency" EXACT [Orphanet:401869] +synonym: "Mmds" BROAD [] +synonym: "MMDS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "multiple mitochondrial dysfunctions syndrome 1" EXACT [DOID:0080133, MONDO:Lexical, OMIM:605711] +synonym: "multiple mitochondrial dysfunctions syndrome type 1" EXACT [MONDORULE:1, Orphanet:401869] +synonym: "NFU1 deficiency" EXACT [DOID:0080133, Orphanet:401869] synonym: "NFU1 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080133 {source="MONDO:equivalentTo"} xref: GARD:17661 {source="MONDO:GARD"} @@ -261656,17 +261701,17 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amyloidosis, Cerebroarterial, APP-related" EXACT [DOID:0070028] -synonym: "amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant" RELATED [DOID:0070028] -synonym: "APP-related cerebral amyloid angiopathy" RELATED [DOID:0070028] -synonym: "cerebral amyloid angiopathy, APP-related" EXACT [OMIM:605714] -synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" RELATED [DOID:0070028] -synonym: "cerebral amyloid angiopathy, APP-related, Dutch variant" RELATED [DOID:0070028] -synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" RELATED [DOID:0070028] -synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" RELATED [DOID:0070028, OMIM:605714] -synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" RELATED [DOID:0070028, OMIM:605714] -synonym: "cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants" EXACT [OMIM:605714, OMIM:genemap2] -synonym: "HCHWAD" EXACT ABBREVIATION [DOID:0070028] +synonym: "amyloidosis, Cerebroarterial, APP-related" EXACT [DOID:0070028, OMIM:605714] +synonym: "amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant" RELATED [] +synonym: "APP-related cerebral amyloid angiopathy" RELATED [] +synonym: "cerebral amyloid angiopathy, APP-related" EXACT [NCIT:C157147, OMIM:605714] +synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" RELATED [] +synonym: "cerebral amyloid angiopathy, APP-related, Dutch variant" RELATED [] +synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" RELATED [] +synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" RELATED [] +synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" RELATED [] +synonym: "cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants" EXACT [] +synonym: "HCHWAD" EXACT ABBREVIATION [DOID:0070028, NCIT:C157147] xref: DOID:0070028 {source="MONDO:equivalentTo"} xref: MEDGEN:414044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C157147 {source="MONDO:equivalentTo"} @@ -261694,12 +261739,12 @@ subset: ordo_disorder {source="Orphanet:319462"} subset: orphanet_rare {source="Orphanet:319462"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FAD1" EXACT ABBREVIATION [DOID:0111089] -synonym: "Fad1" RELATED [OMIM:605724] +synonym: "FAD1" EXACT ABBREVIATION [DOID:0111089, OMIM:605724] +synonym: "Fad1" RELATED [] synonym: "FANCD1" EXACT ABBREVIATION [DOID:0111089, MONDO:Lexical, OMIM:605724] -synonym: "Fanconi anemia complementation group D1" EXACT CLINGEN_LABEL [] -synonym: "Fanconi anemia, complementation group D1" RELATED [MONDO:Lexical, OMIM:605724] -synonym: "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations" RELATED [Orphanet:319462] +synonym: "Fanconi anemia complementation group D1" EXACT CLINGEN_LABEL [DOID:0111089] +synonym: "Fanconi anemia, complementation group D1" RELATED [MONDO:Lexical] +synonym: "inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations" RELATED [] xref: DOID:0111089 {source="MONDO:equivalentTo"} xref: GARD:17449 {source="MONDO:GARD"} xref: MEDGEN:325420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -261723,21 +261768,21 @@ subset: ordo_disorder {source="Orphanet:139552"} subset: orphanet_rare {source="Orphanet:139552"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive distal spinal muscular atrophy type 2" EXACT [DOID:0111065, MONDORULE:1, Orphanet:139552] -synonym: "dHMNJ" EXACT [DOID:0111065, Orphanet:139552] +synonym: "autosomal recessive distal spinal muscular atrophy type 2" EXACT [MONDORULE:1, Orphanet:139552] +synonym: "dHMNJ" EXACT ABBREVIATION [DOID:0111065, Orphanet:139552] synonym: "distal hereditary motor neuropathy Jerash type" EXACT [DOID:0111065] -synonym: "distal hereditary motor neuropathy, Jerash type" RELATED [Orphanet:139552] -synonym: "DSMA2" EXACT ABBREVIATION [DOID:0111065, MONDO:Lexical, OMIM:605726] +synonym: "distal hereditary motor neuropathy, Jerash type" RELATED [] +synonym: "DSMA2" EXACT ABBREVIATION [DOID:0111065, MONDO:Lexical] synonym: "hereditary motor neuropathy, Jerash type" RELATED [GARD:0010133] synonym: "HMNJ" RELATED ABBREVIATION [GARD:0010133] synonym: "MNDJ" RELATED ABBREVIATION [GARD:0010133] synonym: "motor neuropathy, distal, Jerash type" RELATED [GARD:0010133] -synonym: "neuronopathy, distal hereditary motor, Jerash type" RELATED [OMIM:605726] -synonym: "neuropathy, distal hereditary motor, Jerash type" RELATED [GARD:0010133, OMIM:605726] +synonym: "neuronopathy, distal hereditary motor, Jerash type" RELATED [] +synonym: "neuropathy, distal hereditary motor, Jerash type" RELATED [GARD:0010133] synonym: "spinal muscular atrophy Jerash type" EXACT [DOID:0111065] -synonym: "spinal muscular atrophy, distal, autosomal recessive, 2" RELATED [MONDO:Lexical, OMIM:605726] -synonym: "spinal muscular atrophy, distal, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:605726] -synonym: "spinal muscular atrophy, Jerash type" RELATED [OMIM:605726] +synonym: "spinal muscular atrophy, distal, autosomal recessive, 2" RELATED [MONDO:Lexical] +synonym: "spinal muscular atrophy, distal, autosomal recessive, type 2" EXACT [MONDORULE:1] +synonym: "spinal muscular atrophy, Jerash type" RELATED [] xref: DOID:0111065 {source="MONDO:equivalentTo"} xref: GARD:10133 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="DOID:0111065", source="Orphanet:139552/attributed", source="Orphanet:139552/ntbt", source="Orphanet:139552"} @@ -261755,8 +261800,8 @@ id: MONDO:0011586 name: otosclerosis 2 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "otosclerosis 2" EXACT [MONDO:Lexical, OMIM:605727] -synonym: "OTSC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605727] +synonym: "otosclerosis 2" EXACT [DOID:0060921, MONDO:Lexical, OMIM:605727] +synonym: "OTSC2" EXACT ABBREVIATION [DOID:0060921, MONDO:Lexical, OMIM:605727] xref: DOID:0060921 {source="MONDO:equivalentTo"} xref: MEDGEN:340117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565302 {source="MONDO:equivalentTo"} @@ -261773,15 +261818,15 @@ def: "A cataract that has material basis in variation in the region 15q21-q22." subset: gard_rare {source="GARD:18232", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 25" EXACT [MONDO:Lexical, OMIM:605728] -synonym: "cataract type 25" EXACT [DOID:0110254, MONDORULE:2] -synonym: "cataract, central pouch-like, with sutural opacities" RELATED [OMIM:605728] -synonym: "cataract, central saccular, with sutural opacities" RELATED [OMIM:605728] +synonym: "cataract 25" EXACT [DOID:0110254, MONDO:Lexical, OMIM:605728] +synonym: "cataract type 25" EXACT [MONDORULE:2] +synonym: "cataract, central pouch-like, with sutural opacities" RELATED [] +synonym: "cataract, central saccular, with sutural opacities" RELATED [] synonym: "CCSSO" EXACT ABBREVIATION [DOID:0110254] synonym: "central pouch-like cataract with sutural opacities" EXACT [DOID:0110254] synonym: "central saccular cataract with sutural opacities" EXACT [DOID:0110254] synonym: "CTRCT25" EXACT ABBREVIATION [DOID:0110254, MONDO:Lexical, OMIM:605728] -synonym: "early-onset cataract with Y-shaped suture opacities" RELATED EXCLUDE [DOID:0110254] +synonym: "early-onset cataract with Y-shaped suture opacities" RELATED EXCLUDE [] xref: DOID:0110254 {source="MONDO:equivalentTo"} xref: GARD:18232 {source="MONDO:GARD"} xref: ICD10CM:Q12.0 {source="DOID:0110254"} @@ -261806,12 +261851,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BDPLT12" EXACT ABBREVIATION [DOID:0111058, MONDO:Lexical, OMIM:605735] -synonym: "bleeding disorder, platelet-type, 12" RELATED [MONDO:Lexical, OMIM:605735] -synonym: "PGHS1 deficiency" EXACT [DOID:0111058] -synonym: "platelet COX1 deficiency" EXACT [DOID:0111058] -synonym: "platelet cyclooxygenase 1 deficiency" EXACT [DOID:0111058] +synonym: "bleeding disorder, platelet-type, 12" RELATED [MONDO:Lexical] +synonym: "PGHS1 deficiency" EXACT [DOID:0111058, OMIM:605735] +synonym: "platelet COX1 deficiency" EXACT [DOID:0111058, OMIM:605735] +synonym: "platelet cyclooxygenase 1 deficiency" EXACT [DOID:0111058, OMIM:605735] synonym: "platelet prostaglandin-endoperoxide synthase 1 deficiency" EXACT [DOID:0111058] -synonym: "prostaglandin-endoperoxide synthase 1 deficiency, platelet" RELATED [OMIM:605735] +synonym: "prostaglandin-endoperoxide synthase 1 deficiency, platelet" RELATED [] xref: DOID:0111058 {source="MONDO:equivalentTo"} xref: MEDGEN:414043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567786 {source="MONDO:equivalentTo"} @@ -261829,8 +261874,8 @@ subset: gard_rare {source="GARD:15385", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "MCOPCB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605738] -synonym: "microphthalmia, colobomatous, isolated 2" RELATED [OMIM:605738] -synonym: "microphthalmia, isolated, with coloboma 2" RELATED [MONDO:Lexical, OMIM:605738] +synonym: "microphthalmia, colobomatous, isolated 2" RELATED [] +synonym: "microphthalmia, isolated, with coloboma 2" RELATED [MONDO:Lexical] xref: GARD:15385 {source="MONDO:GARD"} xref: MEDGEN:343030 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565300 {source="MONDO:equivalentTo"} @@ -261856,8 +261901,8 @@ def: "A cataract that has material basis in variation in the region 9q13-q22." [ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 26, multiple types" RELATED [MONDO:Lexical, OMIM:605749] -synonym: "cataract, autosomal recessive, early-onset, pulverulent" RELATED [OMIM:605749] +synonym: "cataract 26, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract, autosomal recessive, early-onset, pulverulent" RELATED [] synonym: "CTRCT26" EXACT ABBREVIATION [DOID:0110246, MONDO:Lexical, OMIM:605749] xref: DOID:0110246 {source="MONDO:equivalentTo"} xref: ICD10CM:Q12.0 {source="DOID:0110246"} @@ -261876,8 +261921,8 @@ name: exudative vitreoretinopathy 3 subset: gard_rare {source="GARD:15386", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EVR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605750] -synonym: "exudative vitreoretinopathy 3" EXACT [MONDO:Lexical, OMIM:605750] +synonym: "EVR3" EXACT ABBREVIATION [DOID:0111409, MONDO:Lexical, OMIM:605750] +synonym: "exudative vitreoretinopathy 3" EXACT [DOID:0111409, MONDO:Lexical, OMIM:605750] xref: DOID:0111409 {source="MONDO:equivalentTo"} xref: GARD:15386 {source="MONDO:GARD"} xref: MEDGEN:344184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -261893,10 +261938,10 @@ name: seizures, benign familial infantile, 2 subset: gard_rare {source="GARD:16504", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BFIS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605751] -synonym: "convulsions, benign familial infantile, 2" RELATED [OMIM:605751] +synonym: "BFIS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "convulsions, benign familial infantile, 2" RELATED [] synonym: "seizures, benign familial infantile, 2" EXACT [MONDO:Lexical, OMIM:605751] -synonym: "seizures, benign familial infantile, type 2" EXACT [MONDORULE:1, OMIM:605751] +synonym: "seizures, benign familial infantile, type 2" EXACT [MONDORULE:1] xref: DOID:0081115 {source="MONDO:equivalentTo"} xref: GARD:16504 {source="MONDO:GARD"} xref: MEDGEN:381313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -261912,7 +261957,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011594 name: ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis -synonym: "gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis" RELATED [OMIM:605756] +synonym: "gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis" RELATED [] synonym: "ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis" EXACT [OMIM:605756] xref: MEDGEN:460321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605756 {source="MONDO:equivalentTo"} @@ -261934,12 +261979,12 @@ synonym: "congenital isolated nail dysplasia" RELATED [GARD:0009761] synonym: "congenital onychodysplasia of the index fingers" EXACT [Orphanet:79144] synonym: "Iso-Kikuchi syndrome" EXACT [Orphanet:79144] synonym: "isolated congenital nail dysplasia" RELATED [GARD:0009761] -synonym: "isolated congenital onychodysplasia" RELATED [Orphanet:79144] -synonym: "nail disorder, nonsyndromic congenital, 7" RELATED [MONDO:Lexical, OMIM:605779] +synonym: "isolated congenital onychodysplasia" RELATED [] +synonym: "nail disorder, nonsyndromic congenital, 7" RELATED [MONDO:Lexical] synonym: "nail dysplasia, isolated congenital" RELATED [GARD:0009761] -synonym: "NDNC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605779] -synonym: "nonsyndromic congenital nail disorder type 7" EXACT [DOID:0080085, MONDORULE:1] -synonym: "onychodysplasia, isolated congenital" RELATED [OMIM:605779] +synonym: "NDNC7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nonsyndromic congenital nail disorder type 7" EXACT [MONDORULE:1] +synonym: "onychodysplasia, isolated congenital" RELATED [] xref: DOID:0080085 {source="MONDO:equivalentTo"} xref: GARD:9761 {source="MONDO:GARD"} xref: ICD10CM:Q84.6 {source="Orphanet:79144", source="Orphanet:79144/attributed", source="Orphanet:79144/ntbt"} @@ -261959,11 +262004,11 @@ name: dermatitis, atopic, 2 def: "An inherited susceptibility or predisposition to developing atopic dermatitis in which the cause of the disease is a mutation in the FLG gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] synonym: "ATOD2" EXACT ABBREVIATION [DOID:0110098, MONDO:Lexical, OMIM:605803] synonym: "atopic dermatitis 2" EXACT [DOID:0110098] -synonym: "atopic dermatitis type 2" EXACT [DOID:0110098, MONDORULE:1] +synonym: "atopic dermatitis type 2" EXACT [MONDORULE:1] synonym: "atopic eczema caused by mutation in FLG" EXACT [MONDO:design_pattern] -synonym: "dermatitis, ATOPIC, 2" RELATED [MONDO:Lexical, OMIM:605803] -synonym: "dermatitis, atopic, susceptibility to, 2" EXACT [OMIM:605803, OMIM:genemap2] -synonym: "dermatitis, Atopic, type 2" EXACT [MONDORULE:1, OMIM:605803] +synonym: "dermatitis, ATOPIC, 2" RELATED [MONDO:Lexical] +synonym: "dermatitis, atopic, susceptibility to, 2" EXACT [] +synonym: "dermatitis, Atopic, type 2" EXACT [MONDORULE:1] synonym: "FLG atopic eczema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110098 {source="MONDO:equivalentTo"} xref: MEDGEN:340100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -261985,12 +262030,12 @@ id: MONDO:0011597 name: dermatitis, atopic, 3 def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 20p." [DOID:0110099, MONDO:patterns/inherited_susceptibility, PMID:11279517] synonym: "ATOD3" EXACT ABBREVIATION [DOID:0110099, MONDO:Lexical, OMIM:605804] -synonym: "atopic dermatitis 3" EXACT [] -synonym: "atopic dermatitis type 3" EXACT [DOID:0110099, MONDORULE:1] +synonym: "atopic dermatitis 3" EXACT [DOID:0110099] +synonym: "atopic dermatitis type 3" EXACT [MONDORULE:1] synonym: "atopic dermatitis with asthma" EXACT [DOID:0110099] -synonym: "dermatitis, ATOPIC, 3" RELATED [MONDO:Lexical, OMIM:605804] -synonym: "dermatitis, atopic, susceptibility to, 3" EXACT [OMIM:605804, OMIM:genemap2] -synonym: "dermatitis, Atopic, with asthma" RELATED [OMIM:605804] +synonym: "dermatitis, ATOPIC, 3" RELATED [MONDO:Lexical] +synonym: "dermatitis, atopic, susceptibility to, 3" EXACT [] +synonym: "dermatitis, Atopic, with asthma" RELATED [] xref: DOID:0110099 {source="MONDO:equivalentTo"} xref: MEDGEN:344173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565292 {source="MONDO:equivalentTo"} @@ -262006,10 +262051,10 @@ id: MONDO:0011598 name: dermatitis, atopic, 4 def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 17q25.3." [DOID:0110100, MONDO:patterns/inherited_susceptibility, PMID:11279517] synonym: "ATOD4" EXACT ABBREVIATION [DOID:0110100, MONDO:Lexical, OMIM:605805] -synonym: "atopic dermatitis 4" EXACT [] -synonym: "atopic dermatitis type 4" EXACT [DOID:0110100, MONDORULE:1] -synonym: "dermatitis, ATOPIC, 4" RELATED [MONDO:Lexical, OMIM:605805] -synonym: "dermatitis, atopic, susceptibility to, 4" EXACT [OMIM:605805, OMIM:genemap2] +synonym: "atopic dermatitis 4" EXACT [DOID:0110100] +synonym: "atopic dermatitis type 4" EXACT [MONDORULE:1] +synonym: "dermatitis, ATOPIC, 4" RELATED [MONDO:Lexical] +synonym: "dermatitis, atopic, susceptibility to, 4" EXACT [] xref: DOID:0110100 {source="MONDO:equivalentTo"} xref: MEDGEN:340099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565291 {source="MONDO:equivalentTo"} @@ -262032,11 +262077,11 @@ subset: orphanet_rare {source="Orphanet:179"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "birdshot chorioretinitis" EXACT [DOID:0111079, Orphanet:179] -synonym: "birdshot chorioretinopathy" EXACT [OMIM:605808] +synonym: "birdshot chorioretinopathy" EXACT [DOID:0111079, icd11.foundation:1954035043, OMIM:605808, Orphanet:179] synonym: "birdshot retinochoroiditis" EXACT [DOID:0111079, Orphanet:179] synonym: "birdshot retinochoroidopathy" EXACT [DOID:0111079, Orphanet:179] -synonym: "BSCR" EXACT ABBREVIATION [DOID:0111079] -synonym: "Bscr" RELATED [OMIM:605808] +synonym: "BSCR" EXACT ABBREVIATION [DOID:0111079, OMIM:605808] +synonym: "Bscr" RELATED [] synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disc" RELATED OMO:0003005 [] synonym: "multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk" RELATED [GARD:0005926] synonym: "vitiliginous choroiditis" EXACT [DOID:0111079, Orphanet:179] @@ -262062,17 +262107,17 @@ def: "A congenital myasthenic syndrome characterized by postsynaptic neuromuscul subset: gard_rare {source="GARD:15387", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS Ia1" EXACT [DOID:0110678] -synonym: "Cms Ia1" RELATED [OMIM:605809] -synonym: "Cms Ia1, formerly" RELATED [OMIM:605809] +synonym: "CMS Ia1" EXACT ABBREVIATION [DOID:0110678] +synonym: "Cms Ia1" RELATED [] +synonym: "Cms Ia1, formerly" RELATED [] synonym: "CMS1A1" EXACT ABBREVIATION [DOID:0110678] synonym: "CMS4A" EXACT ABBREVIATION [DOID:0110678, MONDO:Lexical, OMIM:605809] synonym: "congenital myasthenic syndrome 4A slow-channel" EXACT [DOID:0110678] -synonym: "congenital myasthenic syndrome type 4A" EXACT [DOID:0110678, MONDORULE:4] -synonym: "congenital myasthenic syndrome type Ia1" RELATED [OMIM:605809] -synonym: "congenital myasthenic syndrome type Ia1, formerly" RELATED [OMIM:605809] +synonym: "congenital myasthenic syndrome type 4A" EXACT [MONDORULE:4] +synonym: "congenital myasthenic syndrome type Ia1" RELATED [] +synonym: "congenital myasthenic syndrome type Ia1, formerly" RELATED [] synonym: "congenital myasthenic syndrometype Ia1" EXACT [DOID:0110678] -synonym: "myasthenic syndrome, congenital, 4A, slow-channel" RELATED [MONDO:Lexical, OMIM:605809] +synonym: "myasthenic syndrome, congenital, 4A, slow-channel" RELATED [MONDO:Lexical] xref: DOID:0110678 {source="MONDO:equivalentTo"} xref: GARD:15387 {source="MONDO:GARD"} xref: MEDGEN:908188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -262096,12 +262141,12 @@ subset: ordo_disorder {source="Orphanet:247598"} subset: orphanet_rare {source="Orphanet:247598"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cholestasis, neonatal intrahepatic, caused by citrin deficiency" RELATED [OMIM:605814] -synonym: "citrullinemia, type II, neonatal-onset" RELATED [OMIM:605814] +synonym: "cholestasis, neonatal intrahepatic, caused by citrin deficiency" RELATED [] +synonym: "citrullinemia, type II, neonatal-onset" RELATED [] synonym: "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidaemia" RELATED OMO:0003005 [] -synonym: "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia" RELATED [OMIM:605814] +synonym: "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia" RELATED [] synonym: "neonatal intrahepatic cholestasis caused by citrin deficiency" EXACT [Orphanet:247598] -synonym: "neonatal intrahepatic cholestasis due to citrin deficiency" EXACT CLINGEN_LABEL [] +synonym: "neonatal intrahepatic cholestasis due to citrin deficiency" EXACT CLINGEN_LABEL [Orphanet:247598] synonym: "neonatal-onset citrullinemia type 2" RELATED [GARD:0010214] synonym: "neonatal-onset citrullinemia type II" RELATED [GARD:0010214] synonym: "NICCD" EXACT ABBREVIATION [Orphanet:247598] @@ -262125,11 +262170,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22600", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 27" NARROW [DOID:0110485] -synonym: "autosomal recessive nonsyndromic deafness 27" NARROW [OMIM:605818] -synonym: "autosomal recessive nonsyndromic deafness type 27" NARROW [DOID:0110485, MONDORULE:2] -synonym: "deafness, autosomal recessive 27" NARROW [MONDO:Lexical, OMIM:605818, OMIM:genemap2] -synonym: "DFNB27" NARROW ABBREVIATION [DOID:0110485, MONDO:Lexical, OMIM:605818] +synonym: "autosomal recessive deafness 27" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 27" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 27" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 27" NARROW [MONDO:Lexical] +synonym: "DFNB27" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110485 {source="MONDO:equivalentTo"} xref: GARD:22600 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110485"} @@ -262153,23 +262198,23 @@ subset: orphanet_rare {source="Orphanet:602"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal myopathy with rimmed vacuoles" EXACT [Orphanet:602] -synonym: "distal myopathy, Nonaka type" EXACT [Orphanet:602] +synonym: "distal myopathy, Nonaka type" EXACT [DOID:0080718, Orphanet:602] synonym: "DMRV" EXACT ABBREVIATION [Orphanet:602] synonym: "hereditary inclusion body myopathy type 2" EXACT [Orphanet:602] synonym: "HIBM2" EXACT ABBREVIATION [Orphanet:602] synonym: "IBM2" EXACT ABBREVIATION [Orphanet:602] -synonym: "inclusion body myopathy 2, autosomal recessive" RELATED [OMIM:605820] -synonym: "inclusion body myopathy 2, autosomal recessive, formerly" RELATED [OMIM:605820] -synonym: "inclusion body myopathy autosomal recessive" EXACT [OMIM:605820] +synonym: "inclusion body myopathy 2, autosomal recessive" RELATED [] +synonym: "inclusion body myopathy 2, autosomal recessive, formerly" RELATED [] +synonym: "inclusion body myopathy autosomal recessive" EXACT [] synonym: "inclusion body myopathy type 2" EXACT [Orphanet:602] synonym: "inclusion body myopathy, autosomal recessive" RELATED [GARD:0009493] -synonym: "inclusion body myopathy, hereditary, autosomal recessive" RELATED [OMIM:605820] -synonym: "inclusion body myopathy, quadriceps-sparing" RELATED [GARD:0009493, OMIM:605820] -synonym: "myopathy, distal, with or without rimmed vacuoles" RELATED [OMIM:605820] -synonym: "myopathy, distal, with rimmed vacuoles" RELATED [OMIM:605820] -synonym: "NM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605820] -synonym: "Nonaka distal myopathy" RELATED [OMIM:605820] -synonym: "Nonaka myopathy" EXACT [MONDO:Lexical, OMIM:605820, Orphanet:602] +synonym: "inclusion body myopathy, hereditary, autosomal recessive" RELATED [] +synonym: "inclusion body myopathy, quadriceps-sparing" RELATED [GARD:0009493] +synonym: "myopathy, distal, with or without rimmed vacuoles" RELATED [] +synonym: "myopathy, distal, with rimmed vacuoles" RELATED [] +synonym: "NM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Nonaka distal myopathy" RELATED [] +synonym: "Nonaka myopathy" EXACT [DOID:0080718, MONDO:Lexical, OMIM:605820, Orphanet:602] synonym: "QSM" RELATED ABBREVIATION [GARD:0009493] synonym: "quadriceps sparing myopathy" RELATED [GARD:0009493] synonym: "quadriceps-sparing myopathy" EXACT [Orphanet:602] @@ -262204,8 +262249,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:85194"} subset: orphanet_rare {source="Orphanet:85194"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SOS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605822] -synonym: "spondyloocular syndrome" RELATED [MONDO:Lexical, OMIM:605822] +synonym: "SOS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spondyloocular syndrome" RELATED [MONDO:Lexical] xref: GARD:16740 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:85194", source="Orphanet:85194/attributed", source="Orphanet:85194/ntbt"} xref: icd11.foundation:1611450426 {source="MONDO:equivalentTo"} @@ -262232,8 +262277,8 @@ subset: ordo_disorder {source="Orphanet:168632"} subset: orphanet_rare {source="Orphanet:168632"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "basaloid follicular hamartoma syndrome, generalized, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605827] -synonym: "GBFHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605827] +synonym: "basaloid follicular hamartoma syndrome, generalized, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "GBFHS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17042 {source="MONDO:GARD"} xref: ICD10CM:Q82.5 {source="Orphanet:168632/attributed", source="Orphanet:168632/ntbt", source="Orphanet:168632"} xref: MEDGEN:343009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -262270,7 +262315,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9289/baby-ra id: MONDO:0011607 name: narcolepsy 2, susceptibility to subset: predisposition -synonym: "narcolepsy 2" RELATED [OMIM:605841, OMIM:genemap2] +synonym: "narcolepsy 2" RELATED [] synonym: "narcolepsy 2, susceptibility to" EXACT [OMIM:605841] synonym: "NRCLP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:605841] xref: MEDGEN:381293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -262287,10 +262332,10 @@ id: MONDO:0011608 name: dermatitis, atopic, 5 def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 13q12-q14." [DOID:0110101, MONDO:patterns/inherited_susceptibility, PMID:11069631] synonym: "ATOD5" EXACT ABBREVIATION [DOID:0110101, MONDO:Lexical, OMIM:605844] -synonym: "atopic dermatitis 5" EXACT [] -synonym: "atopic dermatitis type 5" EXACT [DOID:0110101, MONDORULE:1] -synonym: "dermatitis, ATOPIC, 5" RELATED [MONDO:Lexical, OMIM:605844] -synonym: "dermatitis, atopic, susceptibility to, 5" EXACT [OMIM:605844, OMIM:genemap2] +synonym: "atopic dermatitis 5" EXACT [DOID:0110101] +synonym: "atopic dermatitis type 5" EXACT [MONDORULE:1] +synonym: "dermatitis, ATOPIC, 5" RELATED [MONDO:Lexical] +synonym: "dermatitis, atopic, susceptibility to, 5" EXACT [] xref: DOID:0110101 {source="MONDO:equivalentTo"} xref: MEDGEN:381292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565280 {source="MONDO:equivalentTo"} @@ -262306,10 +262351,10 @@ id: MONDO:0011609 name: dermatitis, atopic, 6 def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 5q31-q33." [DOID:0110102, MONDO:patterns/inherited_susceptibility, PMID:11069631] synonym: "ATOD6" EXACT ABBREVIATION [DOID:0110102, MONDO:Lexical, OMIM:605845] -synonym: "atopic dermatitis 6" EXACT [] -synonym: "atopic dermatitis type 6" EXACT [DOID:0110102, MONDORULE:1] -synonym: "dermatitis, ATOPIC, 6" RELATED [MONDO:Lexical, OMIM:605845] -synonym: "dermatitis, atopic, susceptibility to, 6" EXACT [OMIM:605845, OMIM:genemap2] +synonym: "atopic dermatitis 6" EXACT [DOID:0110102] +synonym: "atopic dermatitis type 6" EXACT [MONDORULE:1] +synonym: "dermatitis, ATOPIC, 6" RELATED [MONDO:Lexical] +synonym: "dermatitis, atopic, susceptibility to, 6" EXACT [] xref: DOID:0110102 {source="MONDO:equivalentTo"} xref: MEDGEN:344154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565279 {source="MONDO:equivalentTo"} @@ -262333,12 +262378,12 @@ subset: orphanet_rare {source="Orphanet:243343"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dimethylglycine dehydrogenase activity disease" EXACT [MONDO:design_pattern] -synonym: "dimethylglycine dehydrogenase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605850] +synonym: "dimethylglycine dehydrogenase deficiency" EXACT CLINGEN_LABEL [DOID:0081446, MONDO:Lexical, OMIM:605850, Orphanet:243343] synonym: "disorder of dimethylglycine dehydrogenase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] -synonym: "DMG dehydrogenase deficiency" EXACT [Orphanet:243343] -synonym: "DMGDH deficiency" EXACT [Orphanet:243343] -synonym: "Dmgdh deficiency" RELATED [OMIM:605850] -synonym: "DMGDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605850] +synonym: "DMG dehydrogenase deficiency" EXACT [DOID:0081446, Orphanet:243343] +synonym: "DMGDH deficiency" EXACT [OMIM:605850, Orphanet:243343] +synonym: "Dmgdh deficiency" RELATED [] +synonym: "DMGDHD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081446 {source="MONDO:equivalentTo"} xref: GARD:17185 {source="MONDO:GARD"} xref: ICD10CM:E72.5 {source="Orphanet:243343", source="Orphanet:243343/attributed", source="Orphanet:243343/ntbt"} @@ -262360,7 +262405,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011611 name: short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting -synonym: "short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting" EXACT [OMIM:605856] +synonym: "short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting" EXACT [] synonym: "short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting" EXACT DEPRECATED [OMIM:605856] xref: MEDGEN:370814 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566989 {source="MONDO:equivalentTo"} @@ -262379,17 +262424,17 @@ subset: ordo_disorder {source="Orphanet:407"} subset: orphanet_rare {source="Orphanet:407"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GCE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605899] -synonym: "GLYCINE encephalopathy" RELATED [OMIM:605899] -synonym: "glycine encephalopathy" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:605899] +synonym: "GCE" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "GLYCINE encephalopathy" RELATED [] +synonym: "glycine encephalopathy" EXACT CLINGEN_LABEL [DOID:9268, icd11.foundation:1491869639, MONDO:Lexical, NCIT:C84937, OMIMPS:605899, Orphanet:407] synonym: "Glycine synthase deficiency" RELATED [GARD:0007219] synonym: "hyperglycinemia nonketotic" RELATED [GARD:0007219] -synonym: "hyperglycinemia, Nonketotic" RELATED [OMIM:605899] -synonym: "hyperglycinemia, transient neonatal" RELATED [OMIM:605899] +synonym: "hyperglycinemia, Nonketotic" RELATED [] +synonym: "hyperglycinemia, transient neonatal" RELATED [] synonym: "NKA" EXACT ABBREVIATION [Orphanet:407] -synonym: "non-ketotic hyperglycinemia" EXACT [DOID:9268, Orphanet:407] -synonym: "Nonketotic Hyperglycinemia" EXACT [NORD:1512] -synonym: "nonketotic hyperglycinemia" EXACT [DOID:9268] +synonym: "non-ketotic hyperglycinemia" EXACT [DOID:9268, NCIT:C84937, Orphanet:407] +synonym: "Nonketotic Hyperglycinemia" EXACT [DOID:9268, NCIT:C84937, NORD:1512] +synonym: "nonketotic hyperglycinemia" EXACT [DOID:9268, NCIT:C84937] xref: DOID:9268 {source="MONDO:equivalentTo"} xref: GARD:7219 {source="MONDO:GARD"} xref: ICD10CM:E72.5 {source="Orphanet:407/inclusion", source="Orphanet:407", source="Orphanet:407/ntbt"} @@ -262419,17 +262464,17 @@ name: autosomal recessive early-onset Parkinson disease 6 def: "Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18605", source="MONDO:GARD"} subset: rare -synonym: "autosomal recessive early-onset Parkinson disease 6" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive early-onset Parkinson disease type 6" RELATED [DOID:0060369, MONDORULE:1] -synonym: "autosomal recessive early-onset Parkinson's disease 6" RELATED [DOID:0060369] -synonym: "early-onset Parkinson disease 6" RELATED [DOID:0060369] -synonym: "PARK6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605909] -synonym: "Parkinson disease 6, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:605909] -synonym: "Parkinson disease 6, early onset" RELATED [OMIM:605909, OMIM:genemap2] -synonym: "Parkinson disease 6, early-onset" RELATED [OMIM:605909] -synonym: "Parkinson disease 6, late-onset, susceptibility to" RELATED [OMIM:605909] +synonym: "autosomal recessive early-onset Parkinson disease 6" EXACT CLINGEN_LABEL [DOID:0060369] +synonym: "autosomal recessive early-onset Parkinson disease type 6" RELATED [MONDORULE:1] +synonym: "autosomal recessive early-onset Parkinson's disease 6" RELATED [] +synonym: "early-onset Parkinson disease 6" RELATED [] +synonym: "PARK6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Parkinson disease 6, autosomal recessive early-onset" RELATED [MONDO:Lexical] +synonym: "Parkinson disease 6, early onset" RELATED [] +synonym: "Parkinson disease 6, early-onset" RELATED [] +synonym: "Parkinson disease 6, late-onset, susceptibility to" RELATED [] synonym: "Parkinson disease caused by mutation in PINK1" EXACT [MONDO:design_pattern] -synonym: "Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1" RELATED [OMIM:605909] +synonym: "Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1" RELATED [] synonym: "PINK1 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060369 {source="MONDO:equivalentTo"} xref: GARD:18605 {source="MONDO:GARD"} @@ -262456,14 +262501,14 @@ subset: ordo_disorder {source="Orphanet:35701"} subset: orphanet_rare {source="Orphanet:35701"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" EXACT CLINGEN_LABEL [] -synonym: "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency" RELATED [MONDO:Lexical, OMIM:605911] +synonym: "3-hydroxy-3-methylglutaryl-CoA synthase deficiency" EXACT CLINGEN_LABEL [Orphanet:35701] +synonym: "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency" RELATED [MONDO:Lexical] synonym: "HMG CoA synthetase deficiency" RELATED [GARD:0002712] synonym: "HMG-CoA synthase deficiency" EXACT [Orphanet:35701] -synonym: "HMG-CoA synthase-2 deficiency" EXACT [OMIM:605911, OMIM:genemap2] -synonym: "Hmgcs2 deficiency" RELATED [OMIM:605911] -synonym: "HMGCS2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605911] -synonym: "mitochondrial HMG-Coa synthase deficiency" RELATED [OMIM:605911] +synonym: "HMG-CoA synthase-2 deficiency" EXACT [] +synonym: "Hmgcs2 deficiency" RELATED [] +synonym: "HMGCS2D" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mitochondrial HMG-Coa synthase deficiency" RELATED [] xref: DOID:0081168 {source="MONDO:equivalentTo"} xref: GARD:2712 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:35701/attributed", source="Orphanet:35701/ntbt", source="Orphanet:35701"} @@ -262487,8 +262532,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:391320"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bdet" RELATED [OMIM:605913] -synonym: "bleeding disorder, EAST Texas type" RELATED [OMIM:605913] +synonym: "Bdet" RELATED [] +synonym: "bleeding disorder, EAST Texas type" RELATED [] xref: GARD:17613 {source="MONDO:GARD"} xref: ICD10CM:D68.2 {source="Orphanet:391320", source="Orphanet:391320/attributed", source="Orphanet:391320/ntbt"} xref: MEDGEN:342980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -262506,8 +262551,8 @@ def: "A holoprosencephaly that has material basis in variation in the chromosome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "holoprosencephaly 6" EXACT [MONDO:Lexical, OMIM:605934] -synonym: "holoprosencephaly type 6" EXACT [DOID:0110874, MONDORULE:1] +synonym: "holoprosencephaly 6" EXACT [DOID:0110874, MONDO:Lexical, OMIM:605934] +synonym: "holoprosencephaly type 6" EXACT [MONDORULE:1] synonym: "HPE6" EXACT ABBREVIATION [DOID:0110874, MONDO:Lexical, OMIM:605934] xref: DOID:0110874 {source="MONDO:equivalentTo"} xref: MEDGEN:342979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -262560,7 +262605,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:85188"} subset: orphanet_rare {source="Orphanet:85188"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "metaphyseal dysplasia, Braun-Tinschert type" EXACT [OMIM:605946] +synonym: "metaphyseal dysplasia, Braun-Tinschert type" EXACT [OMIM:605946, Orphanet:85188] xref: GARD:16738 {source="MONDO:GARD"} xref: ICD10CM:Q78.5 {source="Orphanet:85188", source="Orphanet:85188/attributed", source="Orphanet:85188/ntbt"} xref: MEDGEN:381277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -262589,12 +262634,12 @@ subset: orphanet_rare {source="Orphanet:85203"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acro-pectoral syndrome" RELATED [GARD:0008485] -synonym: "acropectoral syndrome" EXACT [MONDO:Lexical, OMIM:605967] +synonym: "acropectoral syndrome" EXACT [icd11.foundation:1060723089, MONDO:Lexical, OMIM:605967, Orphanet:85203] synonym: "ACRP syndrome" EXACT [OMIM:605967, Orphanet:85203] -synonym: "ACRPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605967] -synonym: "Dundar Acropectoral syndrome" RELATED [OMIM:605967] +synonym: "ACRPS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Dundar Acropectoral syndrome" RELATED [] synonym: "syndactyly, preaxial polydactyly and sternal deformity" RELATED [GARD:0008485] -synonym: "syndactyly, preaxial polydactyly, and sternal deformity" RELATED [OMIM:605967] +synonym: "syndactyly, preaxial polydactyly, and sternal deformity" RELATED [] synonym: "syndactyly-preaxial polydactyly-sternal deformity syndrome" EXACT [Orphanet:85203] xref: GARD:8485 {source="MONDO:GARD"} xref: ICD10CM:Q74.0 {source="Orphanet:85203/attributed", source="Orphanet:85203/ntbt", source="Orphanet:85203"} @@ -262615,9 +262660,9 @@ id: MONDO:0011622 name: nephrolithiasis, uric acid, susceptibility to subset: predisposition synonym: "nephrolithiasis, uric acid, susceptibility to" EXACT [OMIM:605990] -synonym: "susceptibility to uric acid nephrolithiasis" RELATED [OMIM:605990] -synonym: "UAN" RELATED ABBREVIATION [OMIM:605990] -synonym: "urolithiasis, uric acid, susceptibility to" RELATED [OMIM:605990] +synonym: "susceptibility to uric acid nephrolithiasis" RELATED [] +synonym: "UAN" RELATED ABBREVIATION [] +synonym: "urolithiasis, uric acid, susceptibility to" RELATED [] xref: MEDGEN:397793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605990 {source="MONDO:equivalentTo"} xref: UMLS:C2700426 {source="MEDGEN:397793", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -262642,10 +262687,10 @@ subset: ordo_disorder {source="Orphanet:101028"} subset: orphanet_rare {source="Orphanet:101028"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Eyaid syndrome" RELATED [OMIM:606003] -synonym: "TALDO deficiency" EXACT [Orphanet:101028] -synonym: "Taldo deficiency" RELATED [OMIM:606003] -synonym: "transaldolase deficiency" EXACT [OMIM:606003] +synonym: "Eyaid syndrome" RELATED [] +synonym: "TALDO deficiency" EXACT [OMIM:606003, Orphanet:101028] +synonym: "Taldo deficiency" RELATED [] +synonym: "transaldolase deficiency" EXACT [icd11.foundation:424536994, OMIM:606003, Orphanet:101028] xref: GARD:10445 {source="MONDO:GARD"} xref: ICD10CM:E74.8 {source="Orphanet:101028", source="Orphanet:101028/attributed", source="Orphanet:101028/ntbt"} xref: icd11.foundation:424536994 {source="MONDO:equivalentTo"} @@ -262668,11 +262713,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18113", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 18" NARROW [DOID:0110549] -synonym: "autosomal dominant nonsyndromic deafness 18" NARROW [OMIM:606012] -synonym: "autosomal dominant nonsyndromic deafness type 18" NARROW [DOID:0110549, MONDORULE:2] -synonym: "deafness, autosomal dominant 18" NARROW [MONDO:Lexical, OMIM:606012, OMIM:genemap2] -synonym: "DFNA18" NARROW ABBREVIATION [DOID:0110549, MONDO:Lexical, OMIM:606012] +synonym: "autosomal dominant deafness 18" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 18" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 18" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 18" NARROW [MONDO:Lexical] +synonym: "DFNA18" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110549 {source="MONDO:equivalentTo"} xref: GARD:18113 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110549"} @@ -262690,7 +262735,7 @@ id: MONDO:0011626 name: acromegaloid features, overgrowth, cleft palate, and hernia synonym: "acromegaloid features, overgrowth, cleft palate and hernia" RELATED [GARD:0010194] synonym: "acromegaloid features, overgrowth, cleft palate, and hernia" EXACT [OMIM:606049] -synonym: "Aoch" RELATED [OMIM:606049] +synonym: "Aoch" RELATED [] xref: MEDGEN:340050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535656 {source="MONDO:equivalentTo"} xref: OMIM:606049 {source="MONDO:equivalentTo"} @@ -262702,11 +262747,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10194/acrome id: MONDO:0011627 name: autism, susceptibility to, 5 subset: predisposition -synonym: "autism, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:606053] -synonym: "autism-related speech delay" RELATED [OMIM:606053] -synonym: "AUTS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606053] -synonym: "intellectual developmental disorder with autism and speech delay" EXACT [OMIM:606053, OMIM:genemap2] -synonym: "phrase speech delay, autism-related" RELATED [OMIM:606053] +synonym: "autism, susceptibility to, 5" EXACT [MONDO:Lexical] +synonym: "autism-related speech delay" RELATED [] +synonym: "AUTS5" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "intellectual developmental disorder with autism and speech delay" EXACT [OMIM:606053] +synonym: "phrase speech delay, autism-related" RELATED [] xref: MEDGEN:340048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606053 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:606053"} @@ -262727,19 +262772,19 @@ subset: ordo_disorder {source="Orphanet:35"} subset: orphanet_rare {source="Orphanet:35"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GLYCINEMIA, ketotic" EXACT [DOID:14701] -synonym: "Glycinemia, ketotic" RELATED [OMIM:606054] -synonym: "hyperglycinemia with ketoacidosis and leukopenia" RELATED [OMIM:606054] +synonym: "GLYCINEMIA, ketotic" EXACT [DOID:14701, OMIM:606054] +synonym: "Glycinemia, ketotic" RELATED [] +synonym: "hyperglycinemia with ketoacidosis and leukopenia" RELATED [] synonym: "ketotic glycinemia" EXACT [DOID:14701] synonym: "ketotic hyperglycinemia" EXACT [DOID:14701, OMIM:606054, Orphanet:35] synonym: "ketotic II glycinemia" EXACT [DOID:14701] -synonym: "PCC deficiency" RELATED [OMIM:606054] +synonym: "PCC deficiency" RELATED [] synonym: "prop" RELATED [GARD:0000467] -synonym: "propionic acidemia" EXACT CLINGEN_LABEL [OMIM:606054] +synonym: "propionic acidemia" EXACT CLINGEN_LABEL [DOID:14701, ICD10CM:E71.121, NCIT:C85030, OMIM:606054, Orphanet:35] synonym: "propionic aciduria" EXACT [DOID:14701, Orphanet:35] synonym: "Propionicacidemia" RELATED [GARD:0000467] -synonym: "propionyl-CoA carboxylase deficiency" EXACT [DOID:14701, Orphanet:35] -synonym: "propionyl-Coa carboxylase deficiency" RELATED [OMIM:606054] +synonym: "propionyl-CoA carboxylase deficiency" EXACT [DOID:14701, OMIM:606054, Orphanet:35] +synonym: "propionyl-Coa carboxylase deficiency" RELATED [] xref: DOID:14701 {source="MONDO:equivalentTo"} xref: GARD:467 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:35/inclusion", source="Orphanet:35/ntbt", source="Orphanet:35"} @@ -262778,13 +262823,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carbohydrate deficient glycoprotein syndrome type IIb" EXACT [Orphanet:79330] synonym: "CDG 2B" RELATED [GARD:0010767] -synonym: "CDG IIb" RELATED [OMIM:606056] +synonym: "CDG IIb" RELATED [] synonym: "CDG syndrome type IIb" EXACT [Orphanet:79330] synonym: "CDG-IIb" EXACT [Orphanet:79330] -synonym: "CDG2B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606056, Orphanet:79330] +synonym: "CDG2B" EXACT ABBREVIATION [DOID:0070254, MONDO:Lexical, OMIM:606056, Orphanet:79330] synonym: "congenital disorder of glycosylation type 2b" EXACT [Orphanet:79330] -synonym: "congenital disorder of glycosylation type IIb" EXACT [Orphanet:79330] -synonym: "congenital disorder of glycosylation, type IIb" RELATED [MONDO:Lexical, OMIM:606056] +synonym: "congenital disorder of glycosylation type IIb" EXACT [DOID:0070254, Orphanet:79330] +synonym: "congenital disorder of glycosylation, type IIb" RELATED [MONDO:Lexical] synonym: "GCS1-CDG" RELATED [GARD:0010767] synonym: "glucosidase 1 deficiency" EXACT [OMIM:606056, Orphanet:79330] synonym: "MOGS-CDG" EXACT ABBREVIATION [Orphanet:79330] @@ -262815,9 +262860,9 @@ subset: gard_rare {source="GARD:10394", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FAM161A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 28" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:606068] +synonym: "retinitis pigmentosa 28" EXACT CLINGEN_LABEL [DOID:0110365, MONDO:Lexical, OMIM:606068] synonym: "retinitis pigmentosa caused by mutation in FAM161A" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 28" EXACT [DOID:0110365, MONDORULE:2, OMIM:606068] +synonym: "retinitis pigmentosa type 28" EXACT [MONDORULE:2] synonym: "RP 28" RELATED [GARD:0010394] synonym: "RP28" EXACT ABBREVIATION [DOID:0110365, MONDO:Lexical, OMIM:606068] xref: DOID:0110365 {source="MONDO:equivalentTo"} @@ -262843,11 +262888,11 @@ subset: orphanet_rare {source="Orphanet:647834", source="Orphanet:648562"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant hereditary hemochromatosis" EXACT [DOID:0111028] -synonym: "Ferroportin Disease" EXACT [NORD:1137] +synonym: "Ferroportin Disease" EXACT [DOID:0111028, NORD:1137, Orphanet:648562] synonym: "ferroportin disease" EXACT [DOID:0111028, Orphanet:648562] -synonym: "hemochromatosis due to defect in ferroportin" EXACT [DOID:0111028, OMIM:606069] -synonym: "hemochromatosis, autosomal dominant" RELATED [OMIM:606069] -synonym: "hemochromatosis, type 4" RELATED [MONDO:Lexical, OMIM:606069] +synonym: "hemochromatosis due to defect in ferroportin" EXACT [DOID:0111028] +synonym: "hemochromatosis, autosomal dominant" RELATED [] +synonym: "hemochromatosis, type 4" RELATED [MONDO:Lexical] synonym: "hereditary hemochromatosis caused by mutation in SLC40A1" EXACT [MONDO:design_pattern] synonym: "HFE4" EXACT ABBREVIATION [DOID:0111028, MONDO:Lexical, OMIM:606069] synonym: "SLC40A1 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -262877,15 +262922,15 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18619", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ALS21" EXACT ABBREVIATION [DOID:0060212, MONDO:Lexical, OMIM:606070] -synonym: "amyotrophic lateral sclerosis 21" RELATED [MONDO:Lexical, OMIM:606070] +synonym: "ALS21" EXACT ABBREVIATION [DOID:0060212, MONDO:Lexical, NCIT:C168755, OMIM:606070] +synonym: "amyotrophic lateral sclerosis 21" RELATED [MONDO:Lexical] synonym: "amyotrophic lateral sclerosis caused by mutation in MATR3" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis type 21" EXACT CLINGEN_LABEL [MONDORULE:2, OMIM:606070] +synonym: "amyotrophic lateral sclerosis type 21" EXACT CLINGEN_LABEL [DOID:0060212, MONDORULE:2] synonym: "MATR3 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "myopathy, distal, 2" RELATED [OMIM:606070] -synonym: "myopathy, distal, 2, formerly" RELATED [OMIM:606070] -synonym: "vocal cord and pharyngeal dysfunction with distal myopathy" RELATED [OMIM:606070] -synonym: "vocal cord and pharyngeal dysfunction with distal myopathy, formerly" RELATED [OMIM:606070] +synonym: "myopathy, distal, 2" RELATED [] +synonym: "myopathy, distal, 2, formerly" RELATED [] +synonym: "vocal cord and pharyngeal dysfunction with distal myopathy" RELATED [] +synonym: "vocal cord and pharyngeal dysfunction with distal myopathy, formerly" RELATED [] xref: DOID:0060212 {source="MONDO:equivalentTo"} xref: GARD:18619 {source="MONDO:GARD"} xref: MEDGEN:813851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -262911,22 +262956,22 @@ subset: orphanet_rare {source="Orphanet:99937"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182, Orphanet:99937] synonym: "Charcot Marie Tooth disease type 2C" RELATED [GARD:0001250] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2C" RELATED [GARD:0001250] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C" RELATED [OMIM:606071] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C" RELATED [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2C" RELATED [GARD:0001250] synonym: "Charcot-Marie-Tooth neuropathy type 2C" EXACT [DOID:0110182] -synonym: "Charcot-Marie-Tooth neuropathy, type 2C" RELATED [OMIM:606071] +synonym: "Charcot-Marie-Tooth neuropathy, type 2C" RELATED [] synonym: "CMT 2C" RELATED [GARD:0001250] synonym: "CMT2C" EXACT ABBREVIATION [DOID:0110182, Orphanet:99937] synonym: "hereditary motor and sensory neuropathy 2 C" RELATED [GARD:0001250] synonym: "hereditary motor and sensory neuropathy type IIc" EXACT [DOID:0110182] -synonym: "hereditary motor and sensory neuropathy, type 2C" RELATED [OMIM:606071] -synonym: "hereditary motor and sensory neuropathy, type IIC" RELATED [MONDO:Lexical, OMIM:606071] +synonym: "hereditary motor and sensory neuropathy, type 2C" RELATED [] +synonym: "hereditary motor and sensory neuropathy, type IIC" RELATED [MONDO:Lexical] synonym: "HMSN 2 C" RELATED [GARD:0001250] -synonym: "HMSN 2C" RELATED [OMIM:606071] +synonym: "HMSN 2C" RELATED [] synonym: "HMSN2C" EXACT ABBREVIATION [DOID:0110182, MONDO:Lexical, OMIM:606071] synonym: "TRPV4 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110182 {source="MONDO:equivalentTo"} @@ -262967,7 +263012,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9164/ripplin id: MONDO:0011635 name: goiter, multinodular 3 synonym: "goiter, multinodular 3" EXACT [MONDO:Lexical, OMIM:606082] -synonym: "goiter, multinodular, 3" EXACT [OMIM:606082, OMIM:genemap2] +synonym: "goiter, multinodular, 3" EXACT [] synonym: "MNG3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606082] xref: MEDGEN:342940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565260 {source="MONDO:equivalentTo"} @@ -262985,8 +263030,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "anaemia Diamond-Blackfan 2" RELATED OMO:0003005 [] synonym: "anemia Diamond-Blackfan 2" RELATED [GARD:0008283] -synonym: "DBA2" RELATED ABBREVIATION [GARD:0008283, MESH:C536130, MONDO:Lexical, OMIM:606129] -synonym: "Diamond-Blackfan anemia 2" EXACT [MESH:C536130, MONDO:Lexical, OMIM:606129] +synonym: "DBA2" RELATED ABBREVIATION [GARD:0008283, MESH:C536130, MONDO:Lexical] +synonym: "Diamond-Blackfan anemia 2" EXACT [DOID:0111885, MESH:C536130, MONDO:Lexical, OMIM:606129] synonym: "Diamond-Blackfan Anemia, 2" RELATED [MESH:C536130] xref: DOID:0111885 {source="MONDO:equivalentTo"} xref: GARD:8283 {source="MONDO:GARD"} @@ -263001,7 +263046,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8283/diamond [Term] id: MONDO:0011637 name: Sener syndrome -synonym: "frontonasal dysplasia and dilated Virchow-Robin spaces" RELATED [OMIM:606156] +synonym: "frontonasal dysplasia and dilated Virchow-Robin spaces" RELATED [] synonym: "polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia" RELATED [GARD:0008451] synonym: "Sener syndrome" EXACT [OMIM:606156] xref: MEDGEN:342924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -263024,13 +263069,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adult basal ganglia disease" EXACT [DOID:0110737, Orphanet:157846] synonym: "basal ganglia disease adult-onset" RELATED [GARD:0010686] -synonym: "basal ganglia disease, adult-onset" RELATED [OMIM:606159] +synonym: "basal ganglia disease, adult-onset" RELATED [] synonym: "ferritin-related neurodegeneration" EXACT [DOID:0110737, Orphanet:157846] synonym: "hereditary ferritinopathy" EXACT [DOID:0110737, Orphanet:157846] synonym: "NBIA3" EXACT ABBREVIATION [DOID:0110737, MONDO:Lexical, OMIM:606159] -synonym: "neurodegeneration with brain iron accumulation 3" RELATED [MONDO:Lexical, OMIM:606159] -synonym: "neurodegeneration with brain iron accumulation type 3" EXACT [DOID:0110737, MONDORULE:1, OMIM:606159] -synonym: "neuroferritinopathy" EXACT [DOID:0110737, OMIM:606159] +synonym: "neurodegeneration with brain iron accumulation 3" RELATED [MONDO:Lexical] +synonym: "neurodegeneration with brain iron accumulation type 3" EXACT [MONDORULE:1] +synonym: "neuroferritinopathy" EXACT [DOID:0110737, OMIM:606159, Orphanet:157846] synonym: "Neuroferritinopathy; basal ganglia disease, adult-onset" EXACT [DOID:0110737] xref: DOID:0110737 {source="MONDO:equivalentTo"} xref: GARD:10686 {source="MONDO:GARD"} @@ -263057,11 +263102,11 @@ comment: Not in the OMIM series 105650. {source="OMIM:606164"} subset: gard_rare {source="GARD:15390", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606164] +synonym: "DBA15" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond Blackfan anaemia 15 with mandibulofacial dysostosis" EXACT OMO:0003005 [] -synonym: "Diamond Blackfan anemia 15 with mandibulofacial dysostosis" EXACT [OMIM:606164, OMIM:genemap2] +synonym: "Diamond Blackfan anemia 15 with mandibulofacial dysostosis" EXACT [] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS28" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" EXACT [MONDO:Lexical, OMIM:606164] +synonym: "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" EXACT [DOID:0111894, MONDO:Lexical, OMIM:606164] synonym: "Diamond-Blackfan anemia caused by mutation in RPS28" EXACT [MONDO:design_pattern] synonym: "RPS28 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS28 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -263088,12 +263133,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:85201"} subset: orphanet_rare {source="Orphanet:85201"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability" RELATED [OMIM:606170] -synonym: "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation" RELATED DEPRECATED [OMIM:606170] +synonym: "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability" RELATED [] +synonym: "absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation" RELATED DEPRECATED [] synonym: "absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome" EXACT [Orphanet:85201] -synonym: "GENITOPATELLAR syndrome" RELATED [OMIM:606170] -synonym: "genitopatellar syndrome" EXACT [MONDO:Lexical, OMIM:606170] -synonym: "GTPTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606170] +synonym: "GENITOPATELLAR syndrome" RELATED [] +synonym: "genitopatellar syndrome" EXACT [MONDO:Lexical, OMIM:606170, Orphanet:85201] +synonym: "GTPTS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:10994 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:85201/attributed", source="Orphanet:85201/ntbt", source="Orphanet:85201"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -263120,7 +263165,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10994/genito id: MONDO:0011641 name: baculum, congenital absence of synonym: "baculum, congenital absence of" EXACT [OMIM:606174] -synonym: "Os penis, congenital absence of" RELATED [OMIM:606174] +synonym: "Os penis, congenital absence of" RELATED [] xref: MEDGEN:344078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606174 {source="MONDO:equivalentTo"} xref: UMLS:C1853565 {source="MEDGEN:344078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -263165,7 +263210,7 @@ synonym: "familial pars planitis (subtype)" RELATED [GARD:0007339] synonym: "inflammation of pars plana of ciliary body" EXACT [] synonym: "pars plana of ciliary body inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "pars plana of ciliary bodyitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "pars planitis" EXACT [OMIM:606177] +synonym: "pars planitis" EXACT [DOID:12731, icd11.foundation:127977237, NCIT:C34903, OMIM:606177] synonym: "peripheral retinal inflammation" RELATED [GARD:0007339] synonym: "posterior cyclitis" EXACT [DOID:12731] xref: DOID:12731 {source="EFO:1001088", source="MONDO:equivalentTo"} @@ -263212,15 +263257,15 @@ name: Alzheimer disease 7 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13." [DOID:0110039, PMID:11443525] subset: gard_rare {source="GARD:16510", source="MONDO:GARD"} subset: rare -synonym: "AD7" EXACT ABBREVIATION [DOID:0110039] -synonym: "Ad7" RELATED [OMIM:606187] +synonym: "AD7" EXACT ABBREVIATION [DOID:0110039, OMIM:606187] +synonym: "Ad7" RELATED [] synonym: "Alzheimer disease 7" EXACT [DOID:0110039, OMIM:606187] -synonym: "Alzheimer disease type 7" EXACT [MONDORULE:1, OMIM:606187] +synonym: "Alzheimer disease type 7" EXACT [MONDORULE:1] synonym: "Alzheimer disease, familial 7" EXACT [DOID:0110039] -synonym: "Alzheimer disease, familial, 7" RELATED [OMIM:606187] -synonym: "Alzheimer disease-7" EXACT [OMIM:606187, OMIM:genemap2] -synonym: "Alzheimer's disease 7" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 7" EXACT [DOID:0110039, MONDORULE:1] +synonym: "Alzheimer disease, familial, 7" RELATED [] +synonym: "Alzheimer disease-7" EXACT [] +synonym: "Alzheimer's disease 7" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110039, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 7" EXACT [MONDORULE:1] xref: DOID:0110039 {source="MONDO:equivalentTo"} xref: GARD:16510 {source="MONDO:GARD"} xref: ICD10CM:G30 {source="DOID:0110039"} @@ -263239,8 +263284,8 @@ name: radiation-induced meningioma subset: gard_rare {source="GARD:8491", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "meningioma, radiation-induced" RELATED [OMIM:606190] -synonym: "Mnri" RELATED [OMIM:606190] +synonym: "meningioma, radiation-induced" RELATED [] +synonym: "Mnri" RELATED [] synonym: "radiation induced meningioma" RELATED [GARD:0008491] xref: GARD:8491 {source="MONDO:GARD"} xref: MEDGEN:381204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -263267,12 +263312,12 @@ name: atrioventricular septal defect, susceptibility to, 2 def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "atrioventricular septal defect caused by mutation in CRELD1" EXACT [MONDO:design_pattern] -synonym: "atrioventricular septal defect, partial, with heterotaxy syndrome" RELATED [OMIM:606217] +synonym: "atrioventricular septal defect, partial, with heterotaxy syndrome" RELATED [] synonym: "atrioventricular septal defect, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:606217] -synonym: "atrioventricular septal defect, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:606217] -synonym: "AVSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606217] +synonym: "atrioventricular septal defect, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "AVSD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CRELD1 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to atrioventricular septal defect 2" RELATED [OMIM:606217] +synonym: "susceptibility to atrioventricular septal defect 2" RELATED [] xref: MEDGEN:381193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565249 {source="MONDO:equivalentTo"} xref: OMIM:606217 {source="MONDO:equivalentTo"} @@ -263286,9 +263331,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011651 name: intellectual disability, short stature, facial anomalies, and joint dislocations -synonym: "intellectual developmental disorder with short stature, facial anomalies, and speech defects" EXACT [OMIM:606220, OMIM:genemap2] -synonym: "intellectual disability, short stature, facial anomalies, and JOINT dislocations" RELATED [OMIM:606220] -synonym: "mental retardation, short stature, facial anomalies, and JOINT dislocations" RELATED DEPRECATED [OMIM:606220] +synonym: "intellectual developmental disorder with short stature, facial anomalies, and speech defects" EXACT [OMIM:606220] +synonym: "intellectual disability, short stature, facial anomalies, and JOINT dislocations" RELATED [] +synonym: "mental retardation, short stature, facial anomalies, and JOINT dislocations" RELATED DEPRECATED [] xref: MEDGEN:342897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565248 {source="MONDO:equivalentTo"} xref: OMIM:606220 {source="MONDO:equivalentTo"} @@ -263309,16 +263354,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:48652"} subset: orphanet_rare {source="Orphanet:48652"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "22q13 deletion" NARROW [Orphanet:48652] +synonym: "22q13 deletion" NARROW [] synonym: "22q13.3 deletion syndrome" RELATED [GARD:0010130] -synonym: "chromosome 22Q13.3 deletion syndrome" RELATED [OMIM:606232] +synonym: "chromosome 22Q13.3 deletion syndrome" RELATED [] synonym: "deletion 22q13.3 syndrome" RELATED [GARD:0010130] synonym: "monosomy 22q13" NARROW [] -synonym: "monosomy type 22q13" NARROW [MONDORULE:7, Orphanet:48652] +synonym: "monosomy type 22q13" NARROW [MONDORULE:7] synonym: "Phelan McDermid syndrome" EXACT [PMID:28346892] -synonym: "Phelan-McDermid syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:606232, Orphanet:48652] -synonym: "PHMDS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606232] -synonym: "telomeric 22Q13 monosomy syndrome" RELATED [OMIM:606232] +synonym: "Phelan-McDermid syndrome" EXACT CLINGEN_LABEL [DOID:0080354, MONDO:Lexical, NCIT:C157124, OMIM:606232, Orphanet:48652] +synonym: "PHMDS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C157124, OMIM:606232] +synonym: "telomeric 22Q13 monosomy syndrome" RELATED [] xref: DECIPHER:20 {source="MONDO:equivalentTo"} xref: DOID:0080354 {source="MONDO:equivalentTo"} xref: GARD:10130 {source="MONDO:GARD"} @@ -263345,10 +263390,10 @@ subset: gard_rare {source="GARD:15391", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "NMTC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606240] -synonym: "thyroid cancer, nonmedullary, 1" RELATED [OMIM:606240] -synonym: "thyroid cancer, nonmedullary, 1, formerly" RELATED [OMIM:606240] +synonym: "thyroid cancer, nonmedullary, 1" RELATED [] +synonym: "thyroid cancer, nonmedullary, 1, formerly" RELATED [] synonym: "thyroid cancer, nonmedullary, 3" EXACT [MONDO:Lexical, OMIM:606240] -synonym: "thyroid carcinoma, nonmedullary, 3" EXACT [OMIM:606240, OMIM:genemap2] +synonym: "thyroid carcinoma, nonmedullary, 3" EXACT [] xref: GARD:15391 {source="MONDO:GARD"} xref: MEDGEN:903332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606240 {source="MONDO:equivalentTo"} @@ -263361,9 +263406,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011654 name: intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism -synonym: "intellectual disability, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism" RELATED [OMIM:606242] -synonym: "Kondoh syndrome" RELATED [OMIM:606242] -synonym: "mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism" RELATED DEPRECATED [OMIM:606242] +synonym: "intellectual disability, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism" RELATED [] +synonym: "Kondoh syndrome" RELATED [] +synonym: "mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism" RELATED DEPRECATED [] xref: MEDGEN:342889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565246 {source="MONDO:equivalentTo"} xref: OMIM:606242 {source="MONDO:equivalentTo"} @@ -263381,19 +263426,19 @@ subset: orphanet_rare {source="Orphanet:163699"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adult alveolar soft Part sarcoma" EXACT [NCIT:C7943] -synonym: "adult alveolar soft part sarcoma" EXACT [DOID:4239] +synonym: "adult alveolar soft part sarcoma" EXACT [NCIT:C7943] synonym: "adult alveolar soft-Part sarcoma" EXACT [NCIT:C7943] -synonym: "alveolar soft PART sarcoma" RELATED [MONDO:Lexical, OMIM:606243] -synonym: "alveolar soft Part sarcoma" EXACT [DOID:4239, NCIT:C3750, NCIT:C7943] -synonym: "alveolar soft part sarcoma" EXACT [MONDO:ambiguous, NCIT:C3750] +synonym: "alveolar soft PART sarcoma" RELATED [MONDO:Lexical] +synonym: "alveolar soft Part sarcoma" EXACT [DOID:4239, NCIT:C3750, NCIT:C7943, OMIM:606243, Orphanet:163699] +synonym: "alveolar soft part sarcoma" EXACT [DOID:4239, MONDO:ambiguous, NCIT:C3750, NCIT:C7943, OMIM:606243, Orphanet:163699] synonym: "alveolar soft part sarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "alveolar soft tissue sarcoma" RELATED [Orphanet:163699] -synonym: "alveolar soft-part sarcoma" EXACT [Orphanet:163699] -synonym: "alveolar soft-tissue sarcoma" RELATED [Orphanet:163699] +synonym: "alveolar soft tissue sarcoma" RELATED [] +synonym: "alveolar soft-part sarcoma" EXACT [NCIT:C3750] +synonym: "alveolar soft-tissue sarcoma" RELATED [] synonym: "ASPS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3750, OMIM:606243, Orphanet:163699] -synonym: "childhood alveolar soft part sarcoma" NARROW [DOID:4239] +synonym: "childhood alveolar soft part sarcoma" NARROW [] synonym: "paediatric alveolar soft Part sarcoma" NARROW OMO:0003005 [] -synonym: "pediatric alveolar soft Part sarcoma" NARROW [DOID:4239, NCIT:C8092] +synonym: "pediatric alveolar soft Part sarcoma" NARROW [] xref: DOID:4239 {source="MONDO:equivalentTo", source="EFO:0007143"} xref: EFO:0007143 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5654 {source="MONDO:GARD"} @@ -263425,7 +263470,7 @@ property_value: IAO:0000589 "alveolar soft part sarcoma (disease)" xsd:string [Term] id: MONDO:0011656 name: paget disease of bone 4 -synonym: "Paget disease of bone 4" RELATED [MONDO:Lexical, OMIM:606263] +synonym: "Paget disease of bone 4" RELATED [MONDO:Lexical] synonym: "PDB4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606263] xref: DOID:0081367 {source="MONDO:equivalentTo"} xref: MEDGEN:339991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -263443,13 +263488,13 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:9166", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 24" NARROW [DOID:0110554] -synonym: "autosomal dominant nonsyndromic deafness 24" NARROW [OMIM:606282] -synonym: "autosomal dominant nonsyndromic deafness type 24" NARROW [DOID:0110554, MONDORULE:2] -synonym: "deafness, autosomal dominant 24" NARROW [MONDO:Lexical, OMIM:606282, OMIM:genemap2] +synonym: "autosomal dominant deafness 24" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 24" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 24" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 24" NARROW [MONDO:Lexical] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 24" NARROW [GARD:0009166] synonym: "DFNA 24" NARROW [GARD:0009166] -synonym: "DFNA24" NARROW ABBREVIATION [DOID:0110554, MONDO:Lexical, OMIM:606282] +synonym: "DFNA24" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110554 {source="MONDO:equivalentTo"} xref: GARD:9166 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110554"} @@ -263467,12 +263512,12 @@ name: autosomal recessive early-onset Parkinson disease 7 def: "Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18606", source="MONDO:GARD"} subset: rare -synonym: "autosomal recessive early-onset Parkinson disease 7" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive early-onset Parkinson disease type 7" EXACT [DOID:0060370, MONDORULE:1] -synonym: "autosomal recessive early-onset Parkinson's disease 7" RELATED [DOID:0060370] -synonym: "PARK7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606324] +synonym: "autosomal recessive early-onset Parkinson disease 7" EXACT CLINGEN_LABEL [DOID:0060370] +synonym: "autosomal recessive early-onset Parkinson disease type 7" EXACT [MONDORULE:1] +synonym: "autosomal recessive early-onset Parkinson's disease 7" RELATED [] +synonym: "PARK7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PARK7 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Parkinson disease 7, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:606324] +synonym: "Parkinson disease 7, autosomal recessive early-onset" RELATED [MONDO:Lexical] synonym: "Parkinson disease caused by mutation in PARK7" EXACT [MONDO:design_pattern] xref: DOID:0060370 {source="MONDO:equivalentTo"} xref: GARD:18606 {source="MONDO:GARD"} @@ -263510,16 +263555,16 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:9167", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 22" NARROW [DOID:0110552] -synonym: "autosomal dominant nonsyndromic deafness 22" NARROW [OMIM:606346] +synonym: "autosomal dominant deafness 22" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 22" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO6" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 22" NARROW [DOID:0110552, MONDORULE:2] -synonym: "deafness, autosomal dominant 22" NARROW [MONDO:Lexical, OMIM:606346, OMIM:genemap2] -synonym: "deafness, autosomal dominant 22, with hypertrophic cardiomyopathy" NARROW [OMIM:606346, OMIM:genemap2] +synonym: "autosomal dominant nonsyndromic deafness type 22" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 22" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant 22, with hypertrophic cardiomyopathy" NARROW [] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 22" NARROW [GARD:0009167] -synonym: "deafness, autosomal dominant type 22" NARROW [MONDORULE:2, OMIM:606346] +synonym: "deafness, autosomal dominant type 22" NARROW [MONDORULE:2] synonym: "DFNA 22" RELATED [GARD:0009167] -synonym: "DFNA22" NARROW ABBREVIATION [DOID:0110552, MONDO:Lexical, OMIM:606346] +synonym: "DFNA22" NARROW ABBREVIATION [MONDO:Lexical] synonym: "MYO6 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110552 {source="MONDO:equivalentTo"} xref: GARD:9167 {source="MONDO:GARD"} @@ -263543,8 +263588,8 @@ name: inflammatory bowel disease 5 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31." [DOID:0110889, PMID:11586304] subset: otar {source="MONDO:OTAR"} synonym: "IBD5" EXACT ABBREVIATION [DOID:0110889, MONDO:Lexical, OMIM:606348] -synonym: "inflammatory bowel disease 5" EXACT [MONDO:Lexical, OMIM:606348] -synonym: "inflammatory bowel disease type 5" EXACT [DOID:0110889, MONDORULE:1] +synonym: "inflammatory bowel disease 5" EXACT [DOID:0110889, MONDO:Lexical, OMIM:606348] +synonym: "inflammatory bowel disease type 5" EXACT [MONDORULE:1] xref: DOID:0110889 {source="MONDO:equivalentTo"} xref: MEDGEN:342879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565234 {source="MONDO:equivalentTo"} @@ -263559,9 +263604,9 @@ id: MONDO:0011662 name: pathological gambling def: "A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "compulsive gambling" EXACT [DOID:12399] -synonym: "gambling, pathologic" RELATED [OMIM:606349] -synonym: "pathological gambling" EXACT [DOID:12399] +synonym: "compulsive gambling" EXACT [DOID:12399, ICD10CM:F63.0] +synonym: "gambling, pathologic" RELATED [] +synonym: "pathological gambling" EXACT [DOID:12399, ICD10CM:F63.0, NCIT:C94335] xref: DOID:12399 {source="MONDO:equivalentTo"} xref: EFO:1001926 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F63.0 {source="MONDO:equivalentTo", source="DOID:12399"} @@ -263590,9 +263635,9 @@ subset: rare synonym: "JPLS" EXACT ABBREVIATION [Orphanet:247604] synonym: "juvenile PLS" EXACT [Orphanet:247604] synonym: "PLS juvenile" RELATED [GARD:0004485] -synonym: "Pls, juvenile" RELATED [OMIM:606353] -synonym: "PLSJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606353] -synonym: "primary lateral sclerosis, juvenile" RELATED [GARD:0004485, MONDO:Lexical, OMIM:606353] +synonym: "Pls, juvenile" RELATED [] +synonym: "PLSJ" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "primary lateral sclerosis, juvenile" RELATED [GARD:0004485, MONDO:Lexical] xref: GARD:4485 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:247604", source="Orphanet:247604/attributed", source="Orphanet:247604/ntbt"} xref: MEDGEN:342870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -263614,13 +263659,13 @@ subset: ordo_disorder {source="Orphanet:169100"} subset: orphanet_rare {source="Orphanet:169100"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CD25 deficiency" RELATED [OMIM:606367] -synonym: "IL2RA deficiency" RELATED [OMIM:606367] -synonym: "IMD41" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606367] -synonym: "immunodeficiency 41 with lymphoproliferation and autoimmunity" RELATED [MONDO:Lexical, OMIM:606367] -synonym: "immunodeficiency due to CD25 deficiency" EXACT CLINGEN_LABEL [] -synonym: "Interleukin 2 receptor, alpha, deficiency of" RELATED [OMIM:606367] -synonym: "Interleukin-2 receptor alpha chain deficiency" EXACT [Orphanet:169100] +synonym: "CD25 deficiency" RELATED [] +synonym: "IL2RA deficiency" RELATED [] +synonym: "IMD41" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 41 with lymphoproliferation and autoimmunity" RELATED [MONDO:Lexical] +synonym: "immunodeficiency due to CD25 deficiency" EXACT CLINGEN_LABEL [DOID:0111968, icd11.foundation:1705860123, Orphanet:169100] +synonym: "Interleukin 2 receptor, alpha, deficiency of" RELATED [] +synonym: "Interleukin-2 receptor alpha chain deficiency" EXACT [DOID:0111968, Orphanet:169100] xref: DOID:0111968 {source="MONDO:equivalentTo"} xref: GARD:17049 {source="MONDO:GARD"} xref: ICD10CM:D81.2 {source="Orphanet:169100/attributed", source="Orphanet:169100/ntbt", source="Orphanet:169100"} @@ -263657,12 +263702,12 @@ subset: rare synonym: "diabetes mellitus MODY type 4" RELATED [GARD:0010659] synonym: "maturity onset diabetes of the Young, type 4" EXACT [NCIT:C129746] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in PDX1" EXACT [] -synonym: "maturity-onset diabetes of the young, type 4" RELATED [MONDO:Lexical, OMIM:606392] +synonym: "maturity-onset diabetes of the young, type 4" RELATED [MONDO:Lexical] synonym: "MODY insulin promoter factor-1 related" RELATED [GARD:0010659] synonym: "MODY type 4" EXACT [DOID:0111103] -synonym: "MODY, type 4" RELATED [OMIM:606392] -synonym: "MODY, type IV" EXACT [OMIM:606392, OMIM:genemap2] -synonym: "MODY4" EXACT ABBREVIATION [DOID:0111103, MONDO:Lexical, OMIM:606392] +synonym: "MODY, type 4" RELATED [] +synonym: "MODY, type IV" EXACT [] +synonym: "MODY4" EXACT ABBREVIATION [DOID:0111103, MONDO:Lexical, NCIT:C129746, OMIM:606392] synonym: "PDX1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "PDX1-associated monogenic diabetes" EXACT [NCIT:C129746] synonym: "type 4 maturity-onset diabetes of the young" RELATED [GARD:0010659] @@ -263694,12 +263739,12 @@ subset: rare synonym: "diabetes mellitus MODY type 6" RELATED [GARD:0010660] synonym: "maturity onset diabetes of the Young, type 6" EXACT [NCIT:C129745] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1" EXACT [] -synonym: "maturity-onset diabetes of the young 6" EXACT [OMIM:606394, OMIM:genemap2] -synonym: "maturity-onset diabetes of the young, type 6" RELATED [MONDO:Lexical, OMIM:606394] +synonym: "maturity-onset diabetes of the young 6" EXACT [] +synonym: "maturity-onset diabetes of the young, type 6" RELATED [MONDO:Lexical] synonym: "MODY NEUROD1 related" RELATED [GARD:0010660] synonym: "MODY type 6" EXACT [DOID:0111104] -synonym: "MODY, type 6" RELATED [OMIM:606394] -synonym: "MODY6" EXACT ABBREVIATION [DOID:0111104, MONDO:Lexical, OMIM:606394] +synonym: "MODY, type 6" RELATED [] +synonym: "MODY6" EXACT ABBREVIATION [DOID:0111104, MONDO:Lexical, NCIT:C129745, OMIM:606394] synonym: "NEUROD1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "NEUROD1-associated monogenic diabetes" EXACT [NCIT:C129745] synonym: "neurogenic differentiation Factor 1-associated monogenic diabetes" EXACT [NCIT:C129745] @@ -263734,10 +263779,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cystinuria with mitochondrial disease" EXACT [DOID:0060858, OMIM:606407] synonym: "HCS" EXACT ABBREVIATION [Orphanet:163690] -synonym: "homozygous 2P16 deletion syndrome" RELATED [OMIM:606407] -synonym: "homozygous 2P16 deletion syndrome, formerly" RELATED [OMIM:606407] -synonym: "homozygous 2P21 deletion syndrome" RELATED [OMIM:606407] -synonym: "hypotonia-cystinuria syndrome" EXACT [OMIM:606407] +synonym: "homozygous 2P16 deletion syndrome" RELATED [] +synonym: "homozygous 2P16 deletion syndrome, formerly" RELATED [] +synonym: "homozygous 2P21 deletion syndrome" RELATED [] +synonym: "hypotonia-cystinuria syndrome" EXACT [DOID:0060858, icd11.foundation:1742079513, OMIM:606407, Orphanet:163690] synonym: "hypotonia-cystinuria syndrome type 1" EXACT [MONDO:0016538] synonym: "hypotonia-cystinuria type 1 syndrome" EXACT [Orphanet:238517] xref: DOID:0060858 {source="MONDO:equivalentTo"} @@ -263776,16 +263821,16 @@ synonym: "classical-like EDS" RELATED [GARD:0008507] synonym: "classical-like Ehlers-Danlos syndrome" RELATED [GARD:0008507] synonym: "clEDS" RELATED [GARD:0008507] synonym: "EDS due to TNX deficiency" RELATED [MESH:C536193] -synonym: "EDS due to Tnx deficiency" RELATED [OMIM:606408] -synonym: "EDS, classic-like type" EXACT [Orphanet:230839] -synonym: "EDSCLL" RELATED ABBREVIATION [OMIM:606408] -synonym: "Ehlers-Danlos syndrome due to tenascin-X deficiency" EXACT [MESH:C536193, OMIM:606408] -synonym: "Ehlers-Danlos syndrome, classic-like" RELATED [OMIM:606408] -synonym: "Ehlers-Danlos syndrome, classic-like type" EXACT [Orphanet:230839] -synonym: "Ehlers-Danlos syndrome, classic-like, 1" EXACT [OMIM:606408, OMIM:genemap2] +synonym: "EDS due to Tnx deficiency" RELATED [] +synonym: "EDS, classic-like type" EXACT [] +synonym: "EDSCLL" RELATED ABBREVIATION [] +synonym: "Ehlers-Danlos syndrome due to tenascin-X deficiency" EXACT [icd11.foundation:1840696236, MESH:C536193, OMIM:606408, Orphanet:230839] +synonym: "Ehlers-Danlos syndrome, classic-like" RELATED [] +synonym: "Ehlers-Danlos syndrome, classic-like type" EXACT [] +synonym: "Ehlers-Danlos syndrome, classic-like, 1" EXACT [OMIM:606408] synonym: "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" RELATED [MESH:C536193] synonym: "TNX deficiency" RELATED [MESH:C536193] -synonym: "Tnx deficiency" RELATED [OMIM:606408] +synonym: "Tnx deficiency" RELATED [] xref: DOID:0080731 {source="MONDO:equivalentTo"} xref: GARD:8507 {source="MONDO:GARD"} xref: ICD10CM:Q79.6 {source="Orphanet:230839", source="Orphanet:230839/attributed", source="Orphanet:230839/ntbt"} @@ -263811,9 +263856,9 @@ subset: orphanet_rare {source="Orphanet:98934"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HDL2" EXACT ABBREVIATION [DOID:0090104, MONDO:Lexical, OMIM:606438, Orphanet:98934] -synonym: "Huntington disease-like 2" EXACT [MONDO:Lexical, OMIM:606438] -synonym: "Huntington disease-like type 2" EXACT [DOID:0090104, MONDORULE:1, OMIM:606438, Orphanet:98934] -synonym: "Huntington's disease-like 2" RELATED [DOID:0090104] +synonym: "Huntington disease-like 2" EXACT [DOID:0090104, MONDO:Lexical, OMIM:606438, Orphanet:98934] +synonym: "Huntington disease-like type 2" EXACT [MONDORULE:1] +synonym: "Huntington's disease-like 2" RELATED [] xref: DOID:0090104 {source="MONDO:equivalentTo"} xref: GARD:16874 {source="MONDO:GARD"} xref: ICD10CM:G10 {source="Orphanet:98934", source="DOID:0090104", source="Orphanet:98934/attributed", source="Orphanet:98934/ntbt"} @@ -263835,7 +263880,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:300324"} subset: orphanet_rare {source="Orphanet:300324"} subset: rare -synonym: "persistent polyclonal B-cell lymphocytosis" EXACT [MONDO:Lexical, OMIM:606445] +synonym: "persistent polyclonal B-cell lymphocytosis" EXACT [MONDO:Lexical, OMIM:606445, Orphanet:300324] synonym: "persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes" EXACT [Orphanet:300324] synonym: "PPBL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606445, Orphanet:300324] xref: GARD:17366 {source="MONDO:GARD"} @@ -263856,11 +263901,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18114", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 30" NARROW [DOID:0110560] -synonym: "autosomal dominant nonsyndromic deafness 30" NARROW [OMIM:606451] -synonym: "autosomal dominant nonsyndromic deafness type 30" NARROW [DOID:0110560, MONDORULE:2] -synonym: "deafness, autosomal dominant 30" NARROW [MONDO:Lexical, OMIM:606451, OMIM:genemap2] -synonym: "DFNA30" NARROW ABBREVIATION [DOID:0110560, MONDO:Lexical, OMIM:606451] +synonym: "autosomal dominant deafness 30" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 30" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 30" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 30" NARROW [MONDO:Lexical] +synonym: "DFNA30" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110560 {source="MONDO:equivalentTo"} xref: GARD:18114 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110560"} @@ -263883,24 +263928,24 @@ subset: ordo_disorder {source="Orphanet:100044"} subset: orphanet_rare {source="Orphanet:100044"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type B" RELATED [Orphanet:100044] +synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type B" RELATED [] synonym: "Charcot-Marie-Tooth disease caused by mutation in DNM2" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease dominant intermediate type B" EXACT [DOID:0110197, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, axonal type 2M" EXACT [OMIM:606482, OMIM:genemap2] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M" RELATED [OMIM:606482] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2M" RELATED [OMIM:606482] -synonym: "Charcot-Marie-Tooth disease, dominant intermediate B" RELATED [MONDO:Lexical, OMIM:606482] -synonym: "Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia" RELATED [OMIM:606482] -synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type B" EXACT [MONDORULE:1, OMIM:606482] +synonym: "Charcot-Marie-Tooth disease dominant intermediate type B" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, axonal type 2M" EXACT [] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2M" RELATED [] +synonym: "Charcot-Marie-Tooth disease, dominant intermediate B" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia" RELATED [] +synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type B" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate B" EXACT [DOID:0110197] -synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2M" RELATED [OMIM:606482] -synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate B" RELATED [OMIM:606482] -synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia" RELATED [OMIM:606482] -synonym: "CMTDI1" EXACT ABBREVIATION [DOID:0110197] -synonym: "Cmtdi1" RELATED [OMIM:606482] +synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2M" RELATED [] +synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate B" RELATED [] +synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia" RELATED [] +synonym: "CMTDI1" EXACT ABBREVIATION [DOID:0110197, OMIM:606482] +synonym: "Cmtdi1" RELATED [] synonym: "CMTDIB" EXACT ABBREVIATION [DOID:0110197, MONDO:Lexical, OMIM:606482, Orphanet:100044] -synonym: "DI-CMTB" EXACT [DOID:0110197] -synonym: "Di-CMTB" RELATED [OMIM:606482] +synonym: "DI-CMTB" EXACT ABBREVIATION [DOID:0110197, OMIM:606482] +synonym: "Di-CMTB" RELATED [] synonym: "DNM2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DNM2-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012438] xref: DOID:0110197 {source="MONDO:equivalentTo"} @@ -263929,16 +263974,16 @@ subset: ordo_disorder {source="Orphanet:100043"} subset: orphanet_rare {source="Orphanet:100043"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110202] -synonym: "Charcot-Marie-Tooth disease dominant intermediate A" EXACT [OMIM:606483] -synonym: "Charcot-Marie-Tooth disease dominant intermediate type A" EXACT [DOID:0110202, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, dominant intermediate A" RELATED [MONDO:Lexical, OMIM:606483] +synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110202, Orphanet:100043] +synonym: "Charcot-Marie-Tooth disease dominant intermediate A" EXACT [DOID:0110202] +synonym: "Charcot-Marie-Tooth disease dominant intermediate type A" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, dominant intermediate A" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate A" EXACT [DOID:0110202] -synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate a" RELATED [OMIM:606483] +synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate a" RELATED [] synonym: "CMT2GG" EXACT ABBREVIATION [OMIM:606483] -synonym: "CMTDIA" EXACT ABBREVIATION [DOID:0110202, MONDO:Lexical, OMIM:606483, Orphanet:100043] -synonym: "DI-CMTA" EXACT [DOID:0110202] -synonym: "Di-Cmta" RELATED [OMIM:606483] +synonym: "CMTDIA" EXACT ABBREVIATION [DOID:0110202, MONDO:Lexical, Orphanet:100043] +synonym: "DI-CMTA" EXACT ABBREVIATION [DOID:0110202] +synonym: "Di-Cmta" RELATED [] xref: DOID:0110202 {source="MONDO:equivalentTo"} xref: GARD:12437 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:100043", source="Orphanet:100043/attributed", source="Orphanet:100043/ntbt", source="DOID:0110202"} @@ -263963,12 +264008,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:42775"} subset: orphanet_rare {source="Orphanet:42775"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aortic aneurysm, giant congenital" RELATED [OMIM:606519] +synonym: "aortic aneurysm, giant congenital" RELATED [] synonym: "P-CIIS" RELATED [GARD:0008338] synonym: "pascual-Castroviejo syndrome type 2" EXACT [Orphanet:42775] synonym: "pascual-Castroviejo type II syndrome" RELATED [GARD:0008338] -synonym: "PHACE association" RELATED [OMIM:606519] -synonym: "Phaces association" RELATED [OMIM:606519] +synonym: "PHACE association" RELATED [] +synonym: "Phaces association" RELATED [] synonym: "Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities" RELATED [GARD:0008338] xref: GARD:8338 {source="MONDO:GARD"} xref: ICD10CM:Q28.8 {source="Orphanet:42775", source="Orphanet:42775/attributed", source="Orphanet:42775/ntbt"} @@ -264007,9 +264052,9 @@ name: homozygous 11P15-p14 deletion syndrome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "chromosome 11p15-p14 deletion syndrome" EXACT [OMIM:606528, OMIM:genemap2] +synonym: "chromosome 11p15-p14 deletion syndrome" EXACT [] synonym: "homozygous 11P15-p14 deletion syndrome" EXACT [OMIM:606528] -synonym: "hyperinsulinism, infantile, with enteropathy and deafness" RELATED [OMIM:606528] +synonym: "hyperinsulinism, infantile, with enteropathy and deafness" RELATED [] xref: MEDGEN:338336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564701 {source="MONDO:equivalentTo"} xref: OMIM:606528 {source="MONDO:equivalentTo"} @@ -264047,12 +264092,12 @@ subset: gard_rare {source="GARD:15393", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARCI3" EXACT ABBREVIATION [DOID:0060711, MONDO:Lexical, OMIM:606545] -synonym: "autosomal recessive congenital ichthyosis type 3" EXACT [DOID:0060711, MONDORULE:1] -synonym: "collodion baby, self-healing" RELATED [OMIM:606545] -synonym: "ichthyosis, congenital, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:606545] -synonym: "ichthyosis, congenital, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:606545] -synonym: "ichthyosis, lamellar, 5" RELATED [OMIM:606545] -synonym: "ichthyosis, lamellar, 5, formerly" RELATED [OMIM:606545] +synonym: "autosomal recessive congenital ichthyosis type 3" EXACT [MONDORULE:1] +synonym: "collodion baby, self-healing" RELATED [] +synonym: "ichthyosis, congenital, autosomal recessive 3" RELATED [MONDO:Lexical] +synonym: "ichthyosis, congenital, autosomal recessive type 3" EXACT [MONDORULE:1] +synonym: "ichthyosis, lamellar, 5" RELATED [] +synonym: "ichthyosis, lamellar, 5, formerly" RELATED [] synonym: "lamellar ichthyosis 5" EXACT [DOID:0060711] xref: DOID:0060711 {source="MONDO:equivalentTo"} xref: GARD:15393 {source="MONDO:GARD"} @@ -264085,9 +264130,9 @@ subset: ordo_disorder {source="Orphanet:79136"} subset: orphanet_rare {source="Orphanet:79136"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ataxia, periodic vestibulocerebellar" RELATED [OMIM:606552] -synonym: "EA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606552] -synonym: "episodic ataxia, type 4" RELATED [MONDO:Lexical, OMIM:606552] +synonym: "ataxia, periodic vestibulocerebellar" RELATED [] +synonym: "EA4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "episodic ataxia, type 4" RELATED [MONDO:Lexical] synonym: "PATX" EXACT ABBREVIATION [Orphanet:79136] synonym: "periodic vestibulocerebellar ataxia" EXACT [OMIM:606552, Orphanet:79136] xref: DOID:0050992 {source="MONDO:equivalentTo"} @@ -264112,9 +264157,9 @@ subset: ordo_disorder {source="Orphanet:79135"} subset: orphanet_rare {source="Orphanet:79135"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ataxia, episodic, with vertigo and tinnitus" RELATED [OMIM:606554] -synonym: "EA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606554] -synonym: "episodic ataxia, type 3" RELATED [MONDO:Lexical, OMIM:606554] +synonym: "ataxia, episodic, with vertigo and tinnitus" RELATED [] +synonym: "EA3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "episodic ataxia, type 3" RELATED [MONDO:Lexical] synonym: "episodic ataxia-vertigo-tinnitus-myokymia syndrome" EXACT [Orphanet:79135] xref: DOID:0050991 {source="MONDO:equivalentTo"} xref: GARD:16702 {source="MONDO:GARD"} @@ -264137,12 +264182,12 @@ subset: ordo_disorder {source="Orphanet:79435"} subset: orphanet_rare {source="Orphanet:79435"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "albinism, oculocutaneous, type 4" RELATED [OMIM:606574] -synonym: "albinism, oculocutaneous, type IV" RELATED [MONDO:Lexical, OMIM:606574] +synonym: "albinism, oculocutaneous, type 4" RELATED [] +synonym: "albinism, oculocutaneous, type IV" RELATED [MONDO:Lexical] synonym: "OCA4" EXACT ABBREVIATION [DOID:0070098, MONDO:Lexical, OMIM:606574, Orphanet:79435] synonym: "oculocutaneous albinism caused by mutation in SLC45A2" EXACT [MONDO:design_pattern] -synonym: "oculocutaneous albinism type IV" RELATED [DOID:0070098] -synonym: "oculocutaneous albinism, type 4" RELATED [OMIM:606574] +synonym: "oculocutaneous albinism type IV" RELATED [] +synonym: "oculocutaneous albinism, type 4" RELATED [] synonym: "SLC45A2 oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070098 {source="MONDO:equivalentTo"} xref: GARD:16722 {source="MONDO:GARD"} @@ -264163,11 +264208,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011684 name: vitiligo-associated multiple autoimmune disease susceptibility 1 subset: predisposition -synonym: "systemic lupus erythematosus, vitiligo-related" RELATED [OMIM:606579] -synonym: "VAMAS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606579] -synonym: "vitiligo" RELATED [OMIM:606579] +synonym: "systemic lupus erythematosus, vitiligo-related" RELATED [] +synonym: "VAMAS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "vitiligo" RELATED [] synonym: "vitiligo-associated multiple autoimmune disease susceptibility 1" EXACT [MONDO:Lexical, OMIM:606579] -synonym: "vitiligo-associated multiple autoimmune disease susceptibility type 1" EXACT [MONDORULE:1, OMIM:606579] +synonym: "vitiligo-associated multiple autoimmune disease susceptibility type 1" EXACT [MONDORULE:1] xref: MEDGEN:335788 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606579 {source="MONDO:equivalentTo"} xref: Orphanet:247871 {source="MONDO:relatedTo", source="OMIM:606579"} @@ -264181,9 +264226,9 @@ relationship: predisposes_towards MONDO:0007179 {source="OMIM:606579"} ! autoimm id: MONDO:0011685 name: polysubstance abuse, susceptibility to subset: predisposition -synonym: "drug addiction, susceptibility to" RELATED [OMIM:606581] +synonym: "drug addiction, susceptibility to" RELATED [] synonym: "polysubstance abuse, susceptibility to" EXACT [MONDO:Lexical, OMIM:606581] -synonym: "PSAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606581] +synonym: "PSAB" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:339856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606581 {source="MONDO:equivalentTo"} xref: UMLS:C1847831 {source="MEDGEN:339856", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -264204,8 +264249,8 @@ subset: ordo_disorder {source="Orphanet:99812"} subset: orphanet_rare {source="Orphanet:99812"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DNA ligase IV deficiency" EXACT CLINGEN_LABEL [Orphanet:99812] -synonym: "LIG4 syndrome" EXACT [DOID:0060021, OMIM:606593] +synonym: "DNA ligase IV deficiency" EXACT CLINGEN_LABEL [DOID:0060021, Orphanet:99812] +synonym: "LIG4 syndrome" EXACT [DOID:0060021, NCIT:C122657, OMIM:606593, Orphanet:99812] synonym: "ligase 4 syndrome" EXACT [Orphanet:99812] xref: DOID:0060021 {source="MONDO:equivalentTo"} xref: GARD:15000 {source="MONDO:GARD"} @@ -264237,15 +264282,15 @@ subset: ordo_disorder {source="Orphanet:99940"} subset: orphanet_rare {source="Orphanet:99940"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2F" EXACT [DOID:0110163] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2F" EXACT [DOID:0110163, Orphanet:99940] synonym: "Charcot Marie Tooth disease type 2F" RELATED [GARD:0009194] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2F" RELATED [GARD:0009194] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2F" RELATED [GARD:0009194, MONDO:Lexical, OMIM:606595] -synonym: "Charcot-Marie-Tooth disease, neuronal, type 2F" RELATED [GARD:0009194, OMIM:606595] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2F" RELATED [GARD:0009194, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, neuronal, type 2F" RELATED [GARD:0009194] synonym: "Charcot-Marie-Tooth neuronal type 2F" EXACT [DOID:0110163] synonym: "Charcot-Marie-Tooth neuropathy type 2F" EXACT [DOID:0110163] -synonym: "Charcot-Marie-Tooth neuropathy, type 2F" RELATED [GARD:0009194, OMIM:606595] +synonym: "Charcot-Marie-Tooth neuropathy, type 2F" RELATED [GARD:0009194] synonym: "CMT 2F" RELATED [GARD:0009194] synonym: "CMT2F" EXACT ABBREVIATION [DOID:0110163, MONDO:Lexical, OMIM:606595, Orphanet:99940] synonym: "HSPB1 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -264278,10 +264323,10 @@ synonym: "congenital muscular dystrophy-FKRP related" EXACT CLINGEN_LABEL [https synonym: "FKRP-related congenital muscular dystrophy" EXACT [DOID:0110635] synonym: "MDC1C" EXACT ABBREVIATION [DOID:0110635] synonym: "MDDGB5" EXACT ABBREVIATION [DOID:0110635, MONDO:Lexical, OMIM:606612] -synonym: "muscular dystrophy, congenital, 1C" RELATED [OMIM:606612] -synonym: "muscular dystrophy, congenital, FKRP-related" RELATED [OMIM:606612] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5" EXACT [DOID:0110635, MONDO:Lexical, OMIM:606612] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" EXACT DEPRECATED [DOID:0110635, MONDO:Lexical, OMIM:606612] +synonym: "muscular dystrophy, congenital, 1C" RELATED [] +synonym: "muscular dystrophy, congenital, FKRP-related" RELATED [] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5" EXACT [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" EXACT DEPRECATED [DOID:0110635, MONDO:Lexical] xref: DOID:0110635 {source="MONDO:equivalentTo"} xref: ICD10CM:G71.2 {source="DOID:0110635"} xref: MEDGEN:335764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -264316,7 +264361,7 @@ name: Camurati-Engelmann disease, type 2 def: "Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder." [https://github.com/monarch-initiative/mondo/issues/163, Wikipedia:Camurati%E2%80%93Engelmann_disease#Classification] subset: n_of_one subset: speculative -synonym: "CAEND2" RELATED ABBREVIATION [OMIM:606631] +synonym: "CAEND2" RELATED ABBREVIATION [] synonym: "Camurati Engelmann disease, type 2" RELATED [GARD:0008748] synonym: "Camurati-Engelmann disease, type 2" EXACT [OMIM:606631] synonym: "progressive diaphyseal dysplasia with striations of the bones" RELATED [GARD:0008748] @@ -264333,7 +264378,7 @@ name: amyotrophic lateral sclerosis type 3 subset: gard_rare {source="GARD:10501", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ALS3" RELATED ABBREVIATION [DOID:0060195, MONDO:Lexical, OMIM:606640] +synonym: "ALS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "amyotrophic lateral sclerosis 3" EXACT [DOID:0060195, MONDO:Lexical, OMIM:606640] xref: DOID:0060195 {source="MONDO:equivalentTo"} xref: GARD:10501 {source="MONDO:GARD"} @@ -264358,9 +264403,9 @@ id: MONDO:0011693 name: glaucoma, normal tension, susceptibility to subset: clingen {source="MONDO:CLINGEN"} subset: predisposition -synonym: "glaucoma, normal pressure, susceptibility to" RELATED [OMIM:606657] +synonym: "glaucoma, normal pressure, susceptibility to" RELATED [] synonym: "glaucoma, normal tension, susceptibility to" EXACT [OMIM:606657] -synonym: "NTG" RELATED ABBREVIATION [OMIM:606657] +synonym: "NTG" RELATED ABBREVIATION [] xref: MEDGEN:335756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606657 {source="MONDO:equivalentTo"} xref: UMLS:C1847730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:335756"} @@ -264379,17 +264424,17 @@ subset: ordo_disorder {source="Orphanet:98769"} subset: orphanet_rare {source="Orphanet:98769"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCA15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606658] -synonym: "SCA15/16" EXACT [Orphanet:98769] +synonym: "SCA15" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "SCA15/16" EXACT ABBREVIATION [Orphanet:98769] synonym: "SCA16 (formerly)" RELATED [GARD:0010477] synonym: "SCAR16" EXACT ABBREVIATION [NCIT:C150250] -synonym: "spinocerebellar ataxia 15" RELATED [MONDO:Lexical, OMIM:606658] -synonym: "spinocerebellar ataxia 16" RELATED [OMIM:606658] +synonym: "spinocerebellar ataxia 15" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia 16" RELATED [] synonym: "spinocerebellar ataxia 16 (formerly)" RELATED [GARD:0010477] -synonym: "spinocerebellar ataxia 16, formerly" RELATED [OMIM:606658] -synonym: "spinocerebellar ataxia type 15" EXACT [MONDORULE:2, OMIM:606658] -synonym: "spinocerebellar ataxia type 15/16" EXACT [MONDO:0020299] -synonym: "spinocerebellar ataxia type 16" EXACT [MONDO:0000561] +synonym: "spinocerebellar ataxia 16, formerly" RELATED [] +synonym: "spinocerebellar ataxia type 15" EXACT [DOID:0050965, MONDORULE:2] +synonym: "spinocerebellar ataxia type 15/16" EXACT [MONDO:0020299, Orphanet:98769] +synonym: "spinocerebellar ataxia type 16" EXACT [DOID:0050965, MONDO:0000561, NCIT:C150250] xref: DOID:0050965 {source="MONDO:equivalentTo"} xref: DOID:0050966 {source="MONDO:equivalentObsolete"} xref: GARD:10477 {source="MONDO:GARD"} @@ -264413,8 +264458,8 @@ subset: inferred_rare subset: predisposition subset: rare synonym: "melanoma, uveal, susceptibility to, 1" EXACT [OMIM:606660] -synonym: "melanoma, uveal, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606660] -synonym: "UVM1" EXACT [OMIM:606660] +synonym: "melanoma, uveal, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "UVM1" EXACT ABBREVIATION [OMIM:606660] xref: MEDGEN:376198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606660 {source="MONDO:equivalentTo"} xref: Orphanet:39044 {source="OMIM:606660"} @@ -264430,8 +264475,8 @@ subset: inferred_rare subset: predisposition subset: rare synonym: "melanoma, uveal, susceptibility to, 2" EXACT [OMIM:606661] -synonym: "melanoma, uveal, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:606661] -synonym: "UVM2" EXACT [OMIM:606661] +synonym: "melanoma, uveal, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "UVM2" EXACT ABBREVIATION [OMIM:606661] xref: MEDGEN:339826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606661 {source="MONDO:equivalentTo"} xref: Orphanet:39044 {source="OMIM:606661"} @@ -264447,7 +264492,7 @@ def: "A Waardenburg's syndrome characterized by pigmentary abnormalities of the subset: gard_rare {source="GARD:15396", source="MONDO:GARD"} subset: rare synonym: "Waardenburg syndrome type IIC" EXACT [DOID:0110951] -synonym: "Waardenburg syndrome, type 2C" RELATED [MONDO:Lexical, OMIM:606662] +synonym: "Waardenburg syndrome, type 2C" RELATED [MONDO:Lexical] synonym: "WS2C" EXACT ABBREVIATION [DOID:0110951, MONDO:Lexical, OMIM:606662] xref: DOID:0110951 {source="MONDO:equivalentTo"} xref: GARD:15396 {source="MONDO:GARD"} @@ -264471,10 +264516,10 @@ subset: ordo_disorder {source="Orphanet:289891"} subset: orphanet_rare {source="Orphanet:289891"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Glycine N-methyltransferase deficiency" EXACT [Orphanet:289891] -synonym: "glycine N-methyltransferase deficiency" EXACT CLINGEN_LABEL [OMIM:606664] +synonym: "Glycine N-methyltransferase deficiency" EXACT [DOID:0111037, icd11.foundation:16192453, OMIM:606664, Orphanet:289891] +synonym: "glycine N-methyltransferase deficiency" EXACT CLINGEN_LABEL [DOID:0111037, icd11.foundation:16192453, OMIM:606664, Orphanet:289891] synonym: "GNMT deficiency" EXACT [DOID:0111037, OMIM:606664] -synonym: "hypermethioninemia due to glycine N-methyltransferase deficiency" EXACT [DOID:0111037] +synonym: "hypermethioninemia due to glycine N-methyltransferase deficiency" EXACT [DOID:0111037, Orphanet:289891] synonym: "hypermethioninemia due to GNMT deficiency" EXACT [DOID:0111037, Orphanet:289891] xref: DOID:0111037 {source="MONDO:equivalentTo"} xref: GARD:10764 {source="MONDO:GARD"} @@ -264496,8 +264541,8 @@ id: MONDO:0011699 name: inflammatory bowel disease 8 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 16p." [DOID:0110904, PMID:11752413] synonym: "IBD8" EXACT ABBREVIATION [DOID:0110904, MONDO:Lexical, OMIM:606668] -synonym: "inflammatory bowel disease 8" EXACT [MONDO:Lexical, OMIM:606668] -synonym: "inflammatory bowel disease type 8" EXACT [DOID:0110904, MONDORULE:1] +synonym: "inflammatory bowel disease 8" EXACT [DOID:0110904, MONDO:Lexical, OMIM:606668] +synonym: "inflammatory bowel disease type 8" EXACT [MONDORULE:1] xref: DOID:0110904 {source="MONDO:equivalentTo"} xref: MEDGEN:335753 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564682 {source="MONDO:equivalentTo"} @@ -264512,8 +264557,8 @@ id: MONDO:0011700 name: inflammatory bowel disease 6 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13." [DOID:0110907, PMID:10777714] synonym: "IBD6" EXACT ABBREVIATION [DOID:0110907, MONDO:Lexical, OMIM:606674] -synonym: "inflammatory bowel disease 6" EXACT [MONDO:Lexical, OMIM:606674] -synonym: "inflammatory bowel disease type 6" EXACT [DOID:0110907, MONDORULE:1] +synonym: "inflammatory bowel disease 6" EXACT [DOID:0110907, MONDO:Lexical, OMIM:606674] +synonym: "inflammatory bowel disease type 6" EXACT [MONDORULE:1] xref: DOID:0110907 {source="MONDO:equivalentTo"} xref: MEDGEN:376191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564681 {source="MONDO:equivalentTo"} @@ -264528,8 +264573,8 @@ id: MONDO:0011701 name: inflammatory bowel disease 4 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12." [DOID:0110903, PMID:10747815] synonym: "IBD4" EXACT ABBREVIATION [DOID:0110903, MONDO:Lexical, OMIM:606675] -synonym: "inflammatory bowel disease 4" EXACT [MONDO:Lexical, OMIM:606675] -synonym: "inflammatory bowel disease type 4" EXACT [DOID:0110903, MONDORULE:1] +synonym: "inflammatory bowel disease 4" EXACT [DOID:0110903, MONDO:Lexical, OMIM:606675] +synonym: "inflammatory bowel disease type 4" EXACT [MONDORULE:1] xref: DOID:0110903 {source="MONDO:equivalentTo"} xref: MEDGEN:339822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564680 {source="MONDO:equivalentTo"} @@ -264546,10 +264591,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15397", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1L" RELATED [MONDO:Lexical, OMIM:606685] -synonym: "cardiomyopathy, dilated, type 1L" EXACT [MONDORULE:4, OMIM:606685] +synonym: "cardiomyopathy, dilated, 1L" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1L" EXACT [MONDORULE:4] synonym: "CMD1L" EXACT ABBREVIATION [DOID:0110436, MONDO:Lexical, OMIM:606685] -synonym: "dilated cardiomyopathy type 1L" EXACT [DOID:0110436, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1L" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in SGCD" EXACT [MONDO:design_pattern] synonym: "SGCD familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110436 {source="MONDO:equivalentTo"} @@ -264583,9 +264628,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011704 name: obsolete glaucoma 1, open angle, B -synonym: "glaucoma 1, open angle, B" EXACT [MONDO:Lexical, OMIM:606689] -synonym: "glaucoma 1B, primary open angle, adult onset" EXACT [OMIM:606689, OMIM:genemap2] -synonym: "GLC1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606689] +synonym: "glaucoma 1, open angle, B" EXACT [MONDO:Lexical] +synonym: "glaucoma 1B, primary open angle, adult onset" EXACT [] +synonym: "GLC1B" EXACT ABBREVIATION [MONDO:Lexical] xref: OMIM:606689 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -264600,13 +264645,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LAM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606690, Orphanet:538] -synonym: "lung lymphangioleiomyomatosis" NARROW [DOID:3319] +synonym: "LAM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lung lymphangioleiomyomatosis" NARROW [] synonym: "lymphangio-myomatosis" RELATED [GARD:0003319] -synonym: "lymphangioleiomyomatosis" EXACT [MONDO:Lexical, NCIT:C3725, OMIM:606690] -synonym: "lymphangioleiomyomatosis, somatic" EXACT [OMIM:606690, OMIM:genemap2] -synonym: "lymphangiomyomatosis" EXACT [DOID:3319, NCIT:C3725, OMIM:606690] -synonym: "pulmonary lymphangioleiomyomatosis" NARROW [DOID:3319] +synonym: "lymphangioleiomyomatosis" EXACT [ICD10CM:J84.81, icd11.foundation:902628446, MONDO:Lexical, NCIT:C3725, OMIM:606690] +synonym: "lymphangioleiomyomatosis, somatic" EXACT [] +synonym: "lymphangiomyomatosis" EXACT [ICD10CM:J84.81, NCIT:C3725, OMIM:606690] +synonym: "pulmonary lymphangioleiomyomatosis" NARROW [] xref: ICD10CM:J84.81 {source="MONDO:equivalentTo"} xref: icd11.foundation:902628446 {source="MONDO:equivalentTo"} xref: ICDO:9174/1 {source="NCIT:C3725"} @@ -264636,17 +264681,17 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive juvenile onset Parkinson disease 9" EXACT [DOID:0060556] synonym: "autosomal recessive Parkinson disease 9" EXACT [DOID:0060556] -synonym: "ceroid lipofuscinosis, neuronal, 12" RELATED [OMIM:606693] +synonym: "ceroid lipofuscinosis, neuronal, 12" RELATED [] synonym: "KRPPD" RELATED ABBREVIATION [GARD:0009174] -synonym: "KRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606693] +synonym: "KRS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Kufor Rakeb Syndrome" EXACT [NORD:1959] -synonym: "Kufor-Rakeb syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:606693] -synonym: "Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia" RELATED [OMIM:606693] +synonym: "Kufor-Rakeb syndrome" EXACT CLINGEN_LABEL [DOID:0060556, MONDO:Lexical, OMIM:606693, Orphanet:306674] +synonym: "Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia" RELATED [] synonym: "Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia" RELATED [GARD:0009174] synonym: "park 9" RELATED [GARD:0009174] synonym: "PARK9" EXACT ABBREVIATION [Orphanet:306674] -synonym: "Parkinson disease 9, autosomal recessive" RELATED [OMIM:606693] -synonym: "Parkinson disease 9, autosomal recessive, juvenile-onset" RELATED [OMIM:606693] +synonym: "Parkinson disease 9, autosomal recessive" RELATED [] +synonym: "Parkinson disease 9, autosomal recessive, juvenile-onset" RELATED [] synonym: "Parkinson disease type 9" RELATED [GARD:0009174] xref: DOID:0060556 {source="MONDO:equivalentTo"} xref: GARD:9174 {source="MONDO:GARD"} @@ -264680,13 +264725,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18115", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 36" NARROW [DOID:0110563] -synonym: "autosomal dominant nonsyndromic deafness 36" NARROW [OMIM:606705] +synonym: "autosomal dominant deafness 36" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 36" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TMC1" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 36" NARROW [DOID:0110563, MONDORULE:2] -synonym: "deafness, autosomal dominant 36" NARROW [MONDO:Lexical, OMIM:606705, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 36" NARROW [MONDORULE:2, OMIM:606705] -synonym: "DFNA36" NARROW ABBREVIATION [DOID:0110563, MONDO:Lexical, OMIM:606705] +synonym: "autosomal dominant nonsyndromic deafness type 36" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 36" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 36" NARROW [MONDORULE:2] +synonym: "DFNA36" NARROW ABBREVIATION [MONDO:Lexical] synonym: "TMC1 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110563 {source="MONDO:equivalentTo"} xref: GARD:18115 {source="MONDO:GARD"} @@ -264710,8 +264755,8 @@ subset: gard_rare {source="GARD:15398", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "SHFM5" EXACT ABBREVIATION [DOID:0090022, MONDO:Lexical, OMIM:606708] -synonym: "split hand-foot malformation type 5" EXACT [DOID:0090022, MONDORULE:1] -synonym: "split-hand/foot malformation 5" RELATED [MONDO:Lexical, OMIM:606708] +synonym: "split hand-foot malformation type 5" EXACT [MONDORULE:1] +synonym: "split-hand/foot malformation 5" RELATED [MONDO:Lexical] synonym: "split-hand/foot malformation type 5" EXACT [NCIT:C75002] xref: DOID:0090022 {source="MONDO:equivalentTo"} xref: GARD:15398 {source="MONDO:GARD"} @@ -264729,8 +264774,8 @@ id: MONDO:0011710 name: specific language impairment 1 synonym: "SLI1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606711] synonym: "specific language impairment 1" EXACT [OMIM:606711] -synonym: "specific language impairment QTL, 1" EXACT [OMIM:606711, OMIM:genemap2] -synonym: "specific language impairment quantitative trait locus on chromosome 16" RELATED [OMIM:606711] +synonym: "specific language impairment QTL, 1" EXACT [] +synonym: "specific language impairment quantitative trait locus on chromosome 16" RELATED [] xref: MEDGEN:339804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606711 {source="MONDO:equivalentTo"} xref: UMLS:C1847614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:339804"} @@ -264743,8 +264788,8 @@ id: MONDO:0011711 name: specific language impairment 2 synonym: "SLI2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606712] synonym: "specific language impairment 2" EXACT [OMIM:606712] -synonym: "specific language impairment QTL, 2" EXACT [OMIM:606712, OMIM:genemap2] -synonym: "specific language impairment quantitative trait locus on chromosome 19" RELATED [OMIM:606712] +synonym: "specific language impairment QTL, 2" EXACT [] +synonym: "specific language impairment quantitative trait locus on chromosome 19" RELATED [] xref: MEDGEN:338273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606712 {source="MONDO:equivalentTo"} xref: UMLS:C1847605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338273"} @@ -264759,11 +264804,11 @@ def: "Any van der Woude syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:7846", source="MONDO:GARD"} subset: rare synonym: "GRHL3 van der Woude syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "VAN DER Woude syndrome 2" RELATED [OMIM:606713] +synonym: "VAN DER Woude syndrome 2" RELATED [] synonym: "van der Woude syndrome 2" EXACT [MONDO:Lexical, OMIM:606713] synonym: "van der Woude syndrome caused by mutation in GRHL3" EXACT [MONDO:design_pattern] -synonym: "Van Der Woude syndrome type 2" EXACT [MONDORULE:1, OMIM:606713] -synonym: "VWS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606713] +synonym: "Van Der Woude syndrome type 2" EXACT [MONDORULE:1] +synonym: "VWS2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:7846 {source="MONDO:GARD"} xref: MEDGEN:338272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536529 {source="MONDO:equivalentTo"} @@ -264783,8 +264828,8 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18473", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome" RELATED [OMIM:606719] -synonym: "melanoma-pancreatic cancer syndrome" EXACT CLINGEN_LABEL [OMIM:606719] +synonym: "familial atypical multiple Mole melanoma-pancreatic carcinoma syndrome" RELATED [] +synonym: "melanoma-pancreatic cancer syndrome" EXACT CLINGEN_LABEL [NCIT:C176904, OMIM:606719] xref: GARD:18473 {source="MONDO:GARD"} xref: MEDGEN:325450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563985 {source="MONDO:equivalentTo"} @@ -264802,10 +264847,10 @@ id: MONDO:0011714 name: partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome subset: gard_rare {source="GARD:18038", source="MONDO:GARD"} subset: rare -synonym: "LCCNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606721] -synonym: "lipodystrophy, familial partial, type 7" EXACT [OMIM:606721, OMIM:genemap2] -synonym: "lipodystrophy, partial, with congenital cataracts and neurodegeneration" RELATED [OMIM:606721] -synonym: "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" EXACT [MONDO:Lexical, OMIM:606721] +synonym: "LCCNS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lipodystrophy, familial partial, type 7" EXACT [OMIM:606721] +synonym: "lipodystrophy, partial, with congenital cataracts and neurodegeneration" RELATED [] +synonym: "partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" EXACT [MONDO:Lexical] xref: GARD:18038 {source="MONDO:GARD"} xref: MEDGEN:813897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606721 {source="MONDO:equivalentTo"} @@ -264821,12 +264866,12 @@ def: "Any Seckel syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:15399", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "microcephalic primordial dwarfism 2" EXACT [DOID:0070013] +synonym: "microcephalic primordial dwarfism 2" EXACT [DOID:0070013, OMIM:606744] synonym: "RBBP8 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL2" EXACT ABBREVIATION [DOID:0070013, MONDO:Lexical, OMIM:606744] -synonym: "Seckel syndrome 2" EXACT [MONDO:Lexical, OMIM:606744] +synonym: "Seckel syndrome 2" EXACT [DOID:0070013, MONDO:Lexical, OMIM:606744] synonym: "Seckel syndrome caused by mutation in RBBP8" EXACT [MONDO:design_pattern] -synonym: "Seckel syndrome type 2" EXACT [MONDORULE:1, OMIM:606744] +synonym: "Seckel syndrome type 2" EXACT [MONDORULE:1] synonym: "Seckel-type dwarfism 2" EXACT [DOID:0070013, OMIM:606744] xref: DOID:0070013 {source="MONDO:equivalentTo"} xref: GARD:15399 {source="MONDO:GARD"} @@ -264853,10 +264898,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute haemorrhagic leucoencephalitis of Weston Hurst" EXACT [DOID:10992] synonym: "acute hemorrhagic encephalomyelitis" EXACT [DOID:10992] -synonym: "acute hemorrhagic leukoencephalitis" EXACT [OMIM:606752] +synonym: "acute hemorrhagic leukoencephalitis" EXACT [DOID:10992, NCIT:C84535, OMIM:606752] synonym: "acute necrotizing hemorrhagic leukoencephalitis" EXACT [DOID:10992] synonym: "AHL" EXACT ABBREVIATION [DOID:10992, OMIM:606752] -synonym: "Ahl" RELATED [OMIM:606752] +synonym: "Ahl" RELATED [] synonym: "AHLE" RELATED ABBREVIATION [GARD:0008629] synonym: "Weston-Hurst syndrome" EXACT [DOID:10992] xref: DOID:10992 {source="MONDO:equivalentTo", source="EFO:0007132"} @@ -264889,13 +264934,13 @@ synonym: "GDH hyperinsulinism" EXACT [NCIT:C131832] synonym: "GLUD1 hyperinsulinism" EXACT [NCIT:C131832] synonym: "glutamate dehydrogenase 1 hyperinsulinism" EXACT [NCIT:C131832] synonym: "HA/hi syndrome" RELATED [GARD:0009931] -synonym: "HHF6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606762] -synonym: "hi/HA syndrome" EXACT [Orphanet:35878] +synonym: "HHF6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hi/HA syndrome" EXACT [DOID:0070217, Orphanet:35878] synonym: "hyperinsulinemic hypoglycemia familial 6" RELATED [GARD:0009931] -synonym: "hyperinsulinemic hypoglycemia, familial, 6" RELATED [MONDO:Lexical, OMIM:606762] -synonym: "hyperinsulinemic hypoglycemia, familial, type 6" EXACT [MONDORULE:1, OMIM:606762] +synonym: "hyperinsulinemic hypoglycemia, familial, 6" RELATED [MONDO:Lexical] +synonym: "hyperinsulinemic hypoglycemia, familial, type 6" EXACT [MONDORULE:1] synonym: "hyperinsulinism hyperammonemia syndrome" RELATED [GARD:0009931] -synonym: "hyperinsulinism-hyperammonemia syndrome" EXACT CLINGEN_LABEL [OMIM:606762] +synonym: "hyperinsulinism-hyperammonemia syndrome" EXACT CLINGEN_LABEL [DOID:0070217, OMIM:606762, Orphanet:35878] synonym: "hyperinsulinism/hyperammonemia syndrome" EXACT [NCIT:C131832] xref: DOID:0070217 {source="MONDO:equivalentTo"} xref: GARD:9931 {source="MONDO:GARD"} @@ -264925,13 +264970,13 @@ subset: gard_rare {source="GARD:15400", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD2" EXACT ABBREVIATION [DOID:0110626, MONDO:Lexical, OMIM:606763] -synonym: "ciliary dyskinesia, primary, 2" RELATED [MONDO:Lexical, OMIM:606763] -synonym: "ciliary dyskinesia, primary, 2, with or without situs inversus" RELATED [OMIM:606763] -synonym: "ciliary dyskinesia, primary, type 2" EXACT [MONDORULE:1, OMIM:606763] +synonym: "ciliary dyskinesia, primary, 2" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 2, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 2" EXACT [MONDORULE:1] synonym: "DNAAF3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia 2 with or without situs inversus" EXACT [DOID:0110626] synonym: "primary ciliary dyskinesia caused by mutation in DNAAF3" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 2" EXACT [DOID:0110626, MONDORULE:1] +synonym: "primary ciliary dyskinesia type 2" EXACT [MONDORULE:1] xref: DOID:0110626 {source="MONDO:equivalentTo"} xref: GARD:15400 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110626"} @@ -264957,20 +265002,22 @@ subset: ordo_disorder {source="Orphanet:44890"} subset: orphanet_rare {source="Orphanet:44890"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gant" EXACT [DOID:9253, NCIT:C27940] +synonym: "GANT" EXACT ABBREVIATION [DOID:9253] +synonym: "gant" EXACT [] synonym: "gastrointestinal stromal neoplasm" EXACT [NCIT:C3868] synonym: "gastrointestinal stromal sarcoma" EXACT [Orphanet:44890] -synonym: "gastrointestinal stromal tumor" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:606764] +synonym: "gastrointestinal stromal tumor" EXACT CLINGEN_LABEL [DOID:9253, MONDO:Lexical, NCIT:C3868, OMIM:606764, Orphanet:44890] synonym: "gastrointestinal stromal tumor (gist)" EXACT [NCIT:C3868] -synonym: "gastrointestinal stromal tumor, familial, isolated cases" EXACT [OMIM:606764, OMIM:genemap2] -synonym: "gastrointestinal stromal tumor, isolated cases" EXACT [OMIM:606764, OMIM:genemap2] +synonym: "gastrointestinal stromal tumor, familial, isolated cases" EXACT [] +synonym: "gastrointestinal stromal tumor, isolated cases" EXACT [] synonym: "Gastrointestinal Stromal Tumors" EXACT [NORD:1174] synonym: "gastrointestinal stromal tumors" RELATED [GARD:0008598] synonym: "gastrointestinal stromal tumour (gist)" EXACT OMO:0003005 [] synonym: "gastrointestinal stromal tumours" RELATED OMO:0003005 [] -synonym: "gist" EXACT [DOID:9253, MONDO:Lexical, OMIM:606764, Orphanet:44890] -synonym: "stromal tumor of gastrointestinal tract" EXACT [DOID:9253, NCIT:C3868] -synonym: "stromal tumour of gastrointestinal tract" EXACT OMO:0003005 [] +synonym: "GIST" EXACT ABBREVIATION [DOID:9253, NCIT:C3868, OMIM:606764, Orphanet:44890] +synonym: "gist" EXACT [MONDO:Lexical] +synonym: "stromal tumor of gastrointestinal tract" EXACT [DOID:9253] +synonym: "stromal tumour of gastrointestinal tract" EXACT OMO:0003005 [DOID:9253] xref: DOID:9253 {source="MONDO:equivalentTo"} xref: GARD:8598 {source="MONDO:GARD"} xref: ICD10CM:C26.9 {source="Orphanet:44890", source="Orphanet:44890/attributed", source="Orphanet:44890/ntbt"} @@ -265000,9 +265047,9 @@ subset: gard_rare {source="GARD:18399", source="MONDO:GARD"} subset: rare synonym: "azoospermia caused by mutation in SLC26A8" EXACT [MONDO:design_pattern] synonym: "SLC26A8 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spermatogenic failure 3" EXACT [MONDO:Lexical, OMIM:606766] -synonym: "spermatogenic failure type 3" EXACT [MONDORULE:1, OMIM:606766] -synonym: "SPGF3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606766] +synonym: "spermatogenic failure 3" EXACT [DOID:0070168, MONDO:Lexical, OMIM:606766] +synonym: "spermatogenic failure type 3" EXACT [MONDORULE:1] +synonym: "SPGF3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070168 {source="MONDO:equivalentTo"} xref: GARD:18399 {source="MONDO:GARD"} xref: MEDGEN:1648302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -265027,8 +265074,8 @@ subset: orphanet_rare {source="Orphanet:178400"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal anterior compartment myopathy" EXACT [Orphanet:178400] -synonym: "DMAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606768] -synonym: "myopathy, distal, with anterior tibial onset" RELATED [MONDO:Lexical, OMIM:606768] +synonym: "DMAT" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myopathy, distal, with anterior tibial onset" RELATED [MONDO:Lexical] xref: DOID:0111187 {source="MONDO:equivalentTo"} xref: GARD:17080 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:178400/attributed", source="Orphanet:178400/ntbt", source="Orphanet:178400"} @@ -265051,10 +265098,10 @@ subset: ordo_disorder {source="Orphanet:397973"} subset: orphanet_rare {source="Orphanet:397973"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies" RELATED [OMIM:606772] -synonym: "mental retardation, obesity, mandibular prognathism, and eye and skin anomalies" RELATED DEPRECATED [OMIM:606772] -synonym: "MOMES syndrome" EXACT [Orphanet:397973] -synonym: "Momes syndrome" RELATED [OMIM:606772] +synonym: "intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies" RELATED [] +synonym: "mental retardation, obesity, mandibular prognathism, and eye and skin anomalies" RELATED DEPRECATED [] +synonym: "MOMES syndrome" EXACT [OMIM:606772, Orphanet:397973] +synonym: "Momes syndrome" RELATED [] xref: GARD:17648 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:397973", source="Orphanet:397973/attributed", source="Orphanet:397973/ntbt"} xref: MEDGEN:376145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -265076,8 +265123,8 @@ subset: ordo_disorder {source="Orphanet:141148"} subset: ordo_malformation_syndrome {source="Orphanet:141148"} subset: orphanet_rare {source="Orphanet:141148"} subset: rare -synonym: "hemifacial myohyperplasia" EXACT [MONDO:Lexical, OMIM:606773] -synonym: "HMH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606773] +synonym: "hemifacial myohyperplasia" EXACT [icd11.foundation:1338941880, MONDO:Lexical, OMIM:606773, Orphanet:141148] +synonym: "HMH" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hypertrophy and asymmetry of the facial muscles" RELATED [GARD:0010084] xref: GARD:10084 {source="MONDO:GARD"} xref: ICD10CM:Q67.4 {source="Orphanet:141148", source="Orphanet:141148/ntbt"} @@ -265104,27 +265151,27 @@ subset: ordo_disorder {source="Orphanet:71277"} subset: orphanet_rare {source="Orphanet:71277"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "De Vivo disease" EXACT [GARD:0009265, MESH:C536830, Orphanet:71277] -synonym: "encephalopathy due to GLUT1 deficiency" EXACT [GARD:0009265, MESH:C536830] +synonym: "De Vivo disease" EXACT [DOID:0070561, GARD:0009265, MESH:C536830, Orphanet:71277] +synonym: "encephalopathy due to GLUT1 deficiency" EXACT [DOID:0070561, GARD:0009265, icd11.foundation:1231079185, MESH:C536830, Orphanet:71277] synonym: "G1D" RELATED ABBREVIATION [GARD:0009265] -synonym: "glucose Transport defect, blood-brain barrier" RELATED [OMIM:606777] +synonym: "glucose Transport defect, blood-brain barrier" RELATED [] synonym: "glucose transport defect, blood-brain barrier" RELATED [GARD:0009265, MESH:C536830] synonym: "glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included" RELATED [MESH:C536830] synonym: "glucose transporter Protein syndrome" RELATED [MESH:C536830] synonym: "glucose transporter protein syndrome" RELATED [GARD:0009265] -synonym: "glucose transporter type 1 deficiency" EXACT [Orphanet:71277] +synonym: "glucose transporter type 1 deficiency" EXACT [] synonym: "Glucose Transporter Type 1 Deficiency Syndrome" EXACT [NORD:1188] synonym: "glucose transporter type 1 deficiency syndrome" RELATED [MESH:C536830] synonym: "glucose transporter type1 (glut-1) deficiency" RELATED [MESH:C536830] -synonym: "glut-1 deficiency syndrome" EXACT [GARD:0009265, MESH:C536830, Orphanet:71277] +synonym: "glut-1 deficiency syndrome" EXACT [GARD:0009265, MESH:C536830] synonym: "GLUT1 deficiency syndrome" RELATED [GARD:0009265] -synonym: "GLUT1 deficiency syndrome 1" RELATED [MESH:C536830, MONDO:Lexical, OMIM:606777] -synonym: "GLUT1 deficiency syndrome 1, autosomal recessive" RELATED [OMIM:606777] -synonym: "GLUT1 deficiency syndrome 1, infantile onset, severe" EXACT [OMIM:606777, OMIM:genemap2] -synonym: "GLUT1 deficiency syndrome type 1" EXACT [MONDORULE:1, OMIM:606777] +synonym: "GLUT1 deficiency syndrome 1" RELATED [MESH:C536830, MONDO:Lexical] +synonym: "GLUT1 deficiency syndrome 1, autosomal recessive" RELATED [] +synonym: "GLUT1 deficiency syndrome 1, infantile onset, severe" EXACT [] +synonym: "GLUT1 deficiency syndrome type 1" EXACT [MONDORULE:1] synonym: "GLUT1 DS" RELATED [GARD:0009265] -synonym: "GLUT1-DS" EXACT [Orphanet:71277] -synonym: "GLUT1DS1" RELATED ABBREVIATION [MESH:C536830, MONDO:Lexical, OMIM:606777] +synonym: "GLUT1-DS" EXACT [] +synonym: "GLUT1DS1" RELATED ABBREVIATION [MESH:C536830, MONDO:Lexical] xref: DOID:0070561 {source="MONDO:equivalentTo"} xref: GARD:9265 {source="MONDO:GARD"} xref: ICD10CM:G93.4 {source="Orphanet:71277/attributed", source="Orphanet:71277/ntbt", source="Orphanet:71277"} @@ -265155,15 +265202,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79235"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Arias syndrome" EXACT [Orphanet:79235] -synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2" EXACT [Orphanet:79235] -synonym: "bilirubin-UGT deficiency type 2" EXACT [Orphanet:79235] +synonym: "Arias syndrome" EXACT [icd11.foundation:846453488] +synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2" EXACT [icd11.foundation:846453488, Orphanet:79235] +synonym: "bilirubin-UGT deficiency type 2" EXACT [icd11.foundation:846453488, Orphanet:79235] synonym: "Crigler Najjar syndrome, type 2" RELATED [GARD:0008683] -synonym: "Crigler-Najjar syndrome, type 2" RELATED [OMIM:606785] -synonym: "Crigler-Najjar syndrome, type II" RELATED [OMIM:606785] -synonym: "hereditary unconjugated hyperbilirubinemia type 2" EXACT [Orphanet:79235] -synonym: "hyperbilirubinemia, Crigler-Najjar type 2" RELATED [OMIM:606785] -synonym: "UGT deficiency type 2" EXACT [Orphanet:79235] +synonym: "Crigler-Najjar syndrome, type 2" RELATED [] +synonym: "Crigler-Najjar syndrome, type II" RELATED [] +synonym: "hereditary unconjugated hyperbilirubinemia type 2" EXACT [] +synonym: "hyperbilirubinemia, Crigler-Najjar type 2" RELATED [] +synonym: "UGT deficiency type 2" EXACT [icd11.foundation:846453488] xref: GARD:8683 {source="MONDO:GARD"} xref: ICD10CM:E80.5 {source="Orphanet:79235/attributed", source="Orphanet:79235/ntbt", source="Orphanet:79235"} xref: icd11.foundation:846453488 {source="MONDO:equivalentTo"} @@ -265183,9 +265230,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8683/crigler [Term] id: MONDO:0011726 name: peripheral arterial occlusive disease 1 -synonym: "Paod1" RELATED [OMIM:606787] +synonym: "Paod1" RELATED [] synonym: "peripheral arterial occlusive disease 1" EXACT [OMIM:606787] -synonym: "peripheral arterial occlusive disease type 1" EXACT [MONDORULE:1, OMIM:606787] +synonym: "peripheral arterial occlusive disease type 1" EXACT [MONDORULE:1] xref: MEDGEN:376140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564658 {source="MONDO:equivalentTo"} xref: OMIM:606787 {source="MONDO:equivalentTo"} @@ -265196,11 +265243,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0011727 name: anorexia nervosa, susceptibility to, 1 subset: predisposition -synonym: "AN" RELATED ABBREVIATION [OMIM:606788] -synonym: "anon" RELATED [OMIM:606788] -synonym: "ANON1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606788] -synonym: "anorexia nervosa, susceptibility to" RELATED [OMIM:606788] -synonym: "anorexia nervosa, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:606788] +synonym: "AN" RELATED ABBREVIATION [] +synonym: "anon" RELATED [] +synonym: "ANON1" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "anorexia nervosa, susceptibility to" RELATED [] +synonym: "anorexia nervosa, susceptibility to, 1" EXACT [MONDO:Lexical] xref: MEDGEN:376139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606788 {source="MONDO:equivalentTo"} xref: UMLS:C1847492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:376139"} @@ -265218,9 +265265,9 @@ name: benign essential blepharospasm def: "Involuntary twitching of the eyelid." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "BEB" RELATED ABBREVIATION [GARD:0005909] -synonym: "benign essential blepharospasm" EXACT [GARD:0005909] -synonym: "blepharospasm" EXACT [NCIT:C118723] -synonym: "blepharospasm, benign essential" RELATED [OMIM:606798] +synonym: "benign essential blepharospasm" EXACT [GARD:0005909, icd11.foundation:1127235959] +synonym: "blepharospasm" EXACT [DOID:529, ICD10CM:G24.5] +synonym: "blepharospasm, benign essential" RELATED [] xref: DOID:529 {source="MONDO:equivalentTo"} xref: ICD10CM:G24.5 {source="DOID:529", source="MONDO:equivalentTo"} xref: icd11.foundation:1127235959 {source="MONDO:equivalentTo"} @@ -265241,9 +265288,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011729 name: stroke, susceptibility to, 1 subset: predisposition -synonym: "Strk1" RELATED [OMIM:606799] +synonym: "Strk1" RELATED [] synonym: "stroke, susceptibility to, 1" EXACT [OMIM:606799] -synonym: "stroke, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606799] +synonym: "stroke, susceptibility to, type 1" EXACT [MONDORULE:1] xref: MEDGEN:335696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606799 {source="MONDO:equivalentTo"} xref: UMLS:C1847482 {source="MEDGEN:335696", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -265263,10 +265310,10 @@ subset: ordo_disorder {source="Orphanet:24"} subset: orphanet_rare {source="Orphanet:24"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FMRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606812] -synonym: "fumarase deficiency" EXACT [MONDO:Lexical, OMIM:606812, Orphanet:24] +synonym: "FMRD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "fumarase deficiency" EXACT [DOID:0111261, MONDO:Lexical, OMIM:606812, Orphanet:24] synonym: "fumarate hydratase deficiency" RELATED [GARD:0006476] -synonym: "fumaric aciduria" EXACT [OMIM:606812] +synonym: "fumaric aciduria" EXACT [DOID:0111261, OMIM:606812, Orphanet:24] xref: DOID:0111261 {source="MONDO:equivalentTo"} xref: GARD:6476 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:24/attributed", source="Orphanet:24/ntbt", source="Orphanet:24"} @@ -265295,12 +265342,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carbohydrate intolerance of glucose galactose" RELATED [GARD:0006521] synonym: "Complex carbohydrate intolerance" RELATED [GARD:0006521] -synonym: "GGM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606824] +synonym: "GGM" RELATED ABBREVIATION [MONDO:Lexical] synonym: "glucose galactose malabsorption deficiency" RELATED [GARD:0006521] -synonym: "glucose-galactose malabsorption" EXACT CLINGEN_LABEL [] -synonym: "glucose/galactose malabsorption" RELATED [MONDO:Lexical, OMIM:606824] -synonym: "monosaccharide malabsorption" RELATED [OMIM:606824] -synonym: "SGLT1 deficiency" EXACT [Orphanet:35710] +synonym: "glucose-galactose malabsorption" EXACT CLINGEN_LABEL [DOID:0070563, icd11.foundation:2108415931, Orphanet:35710] +synonym: "glucose/galactose malabsorption" RELATED [MONDO:Lexical] +synonym: "monosaccharide malabsorption" RELATED [] +synonym: "SGLT1 deficiency" EXACT [DOID:0070563, icd11.foundation:2108415931, Orphanet:35710] xref: DOID:0070563 {source="MONDO:equivalentTo"} xref: GARD:6521 {source="MONDO:GARD"} xref: ICD10CM:E74.3 {source="Orphanet:35710", source="Orphanet:35710/attributed", source="Orphanet:35710/ntbt"} @@ -265335,8 +265382,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:85169"} subset: orphanet_rare {source="Orphanet:85169"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "digital arthropathy-brachydactyly, familial" RELATED [MONDO:Lexical, OMIM:606835] -synonym: "FDAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606835] +synonym: "digital arthropathy-brachydactyly, familial" RELATED [MONDO:Lexical] +synonym: "FDAB" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16735 {source="MONDO:GARD"} xref: ICD10CM:M06.8 {source="Orphanet:85169", source="Orphanet:85169/attributed", source="Orphanet:85169/ntbt"} xref: MEDGEN:335678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -265353,10 +265400,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011733 name: parasomnia, sleep bruxism type -synonym: "faciomandibular myoclonus, nocturnal" RELATED [OMIM:606840] +synonym: "faciomandibular myoclonus, nocturnal" RELATED [] synonym: "nocturnal facio-mandibular myoclonus" RELATED [GARD:0010195] synonym: "parasomnia, sleep bruxism type" EXACT [MONDO:Lexical, OMIM:606840] -synonym: "parasomnia, Sleeptalking type" RELATED [OMIM:606840] +synonym: "parasomnia, Sleeptalking type" RELATED [] synonym: "PSMNSB" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606840] xref: MEDGEN:339751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536389 {source="MONDO:equivalentTo"} @@ -265384,16 +265431,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:101090"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CD40 deficiency" RELATED [DOID:0060023] +synonym: "CD40 deficiency" RELATED [] synonym: "CD40 hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HIGM3" EXACT ABBREVIATION [GARD:0010579, MONDO:Lexical, OMIM:606843, Orphanet:101090] +synonym: "HIGM3" EXACT ABBREVIATION [DOID:0060023, GARD:0010579, MONDO:Lexical, OMIM:606843, Orphanet:101090] synonym: "hyper IgM syndrome 3" RELATED [GARD:0010579] -synonym: "hyper-IgM syndrome 3" RELATED [OMIM:606843] +synonym: "hyper-IgM syndrome 3" RELATED [] synonym: "hyper-IgM syndrome caused by mutation in CD40" EXACT [MONDO:design_pattern] synonym: "hyper-IgM syndrome due to CD40 deficiency" EXACT [DOID:0060023, Orphanet:101090] synonym: "immunodeficiency with hyper IgM type 3" RELATED [GARD:0010579] -synonym: "immunodeficiency with hyper-IgM type 3" EXACT [DOID:0060023] -synonym: "immunodeficiency with hyper-IgM, type 3" RELATED [MONDO:Lexical, OMIM:606843] +synonym: "immunodeficiency with hyper-IgM type 3" EXACT [] +synonym: "immunodeficiency with hyper-IgM, type 3" RELATED [MONDO:Lexical] synonym: "type 3 hyper-IgM immunodeficiency" EXACT [DOID:0060023] xref: DOID:0060023 {source="MONDO:equivalentTo"} xref: GARD:10579 {source="MONDO:GARD"} @@ -265413,7 +265460,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10579/immuno [Term] id: MONDO:0011736 name: Cree intellectual disability syndrome -synonym: "Cree intellectual disability syndrome" EXACT [OMIM:606851] +synonym: "Cree intellectual disability syndrome" EXACT [] synonym: "Cree mental retardation syndrome" EXACT DEPRECATED [OMIM:606851] xref: MEDGEN:335673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564654 {source="MONDO:equivalentTo"} @@ -265427,8 +265474,8 @@ name: parkinson disease 10 subset: gard_rare {source="GARD:18607", source="MONDO:GARD"} subset: rare synonym: "PARK10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606852] -synonym: "Parkinson disease 10" RELATED [MONDO:Lexical, OMIM:606852] -synonym: "Parkinson disease, Age at onset of" RELATED [OMIM:606852] +synonym: "Parkinson disease 10" RELATED [MONDO:Lexical] +synonym: "Parkinson disease, Age at onset of" RELATED [] xref: GARD:18607 {source="MONDO:GARD"} xref: MEDGEN:339741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564653 {source="MONDO:equivalentTo"} @@ -265448,10 +265495,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:101070"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BFPP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606854] -synonym: "bilateral frontoparietal polymicrogyria" EXACT CLINGEN_LABEL [] -synonym: "cerebellar ataxia with neuronal migration defect" RELATED [OMIM:606854] -synonym: "polymicrogyria, bilateral frontoparietal" RELATED [MONDO:Lexical, OMIM:606854] +synonym: "BFPP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "bilateral frontoparietal polymicrogyria" EXACT CLINGEN_LABEL [DOID:0080922, icd11.foundation:1119484699, NCIT:C148367, Orphanet:101070] +synonym: "cerebellar ataxia with neuronal migration defect" RELATED [] +synonym: "polymicrogyria, bilateral frontoparietal" RELATED [MONDO:Lexical] xref: DOID:0080922 {source="MONDO:equivalentTo"} xref: GARD:10784 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:101070", source="Orphanet:101070/attributed", source="Orphanet:101070/ntbt"} @@ -265479,9 +265526,9 @@ subset: rare synonym: "familial pancreatic carcinoma caused by mutation in PALLD" EXACT [MONDO:design_pattern] synonym: "PALLD familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pancreatic cancer, susceptibility to, 1" EXACT [OMIM:606856] -synonym: "pancreatic cancer, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606856] -synonym: "Pnca1" RELATED [OMIM:606856] -synonym: "susceptibility to pancreatic cancer 1" RELATED [OMIM:606856] +synonym: "pancreatic cancer, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "Pnca1" RELATED [] +synonym: "susceptibility to pancreatic cancer 1" RELATED [] xref: MEDGEN:339739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606856 {source="MONDO:equivalentTo"} xref: Orphanet:1333 {source="OMIM:606856"} @@ -265504,10 +265551,10 @@ subset: rare synonym: "Carney dyad" EXACT [Orphanet:97286] synonym: "Carney-Stratakis dyad" EXACT [Orphanet:97286] synonym: "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma" RELATED [GARD:0010643] -synonym: "Carney-Stratakis syndrome" EXACT [OMIM:606864] +synonym: "Carney-Stratakis syndrome" EXACT [DOID:0080533, NCIT:C94831, OMIM:606864, Orphanet:97286] synonym: "gist-paraganglioma dyad" EXACT [Orphanet:97286] synonym: "paraganglioma and gastric stromal sarcoma" EXACT [OMIM:606864, Orphanet:97286] -synonym: "paraganglioma and gastrointestinal stromal tumor" RELATED [OMIM:606864] +synonym: "paraganglioma and gastrointestinal stromal tumor" RELATED [] synonym: "paraganglioma and gastrointestinal stromal tumour" RELATED OMO:0003005 [] synonym: "paraganglioma and gist" RELATED [GARD:0010643] xref: DOID:0080533 {source="MONDO:equivalentTo"} @@ -265555,16 +265602,16 @@ name: Alzheimer disease 4 def: "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene." [NCIT:C123413] subset: gard_rare {source="GARD:16511", source="MONDO:GARD"} subset: rare -synonym: "AD4" EXACT ABBREVIATION [DOID:0110040] -synonym: "Ad4" RELATED [OMIM:606889] +synonym: "AD4" EXACT ABBREVIATION [DOID:0110040, NCIT:C123413, OMIM:606889] +synonym: "Ad4" RELATED [] synonym: "Alzheimer disease 4" EXACT [DOID:0110040, OMIM:606889] synonym: "Alzheimer disease familial type 4" RELATED [GARD:0009469] -synonym: "Alzheimer disease type 4" EXACT [MONDORULE:1, OMIM:606889] -synonym: "Alzheimer disease, familial, 4" RELATED [OMIM:606889] +synonym: "Alzheimer disease type 4" EXACT [MONDORULE:1] +synonym: "Alzheimer disease, familial, 4" RELATED [] synonym: "Alzheimer disease, familial4" EXACT [DOID:0110040] -synonym: "Alzheimer disease-4" EXACT [OMIM:606889, OMIM:genemap2] -synonym: "Alzheimer's disease 4" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 4" EXACT [DOID:0110040, MONDORULE:1] +synonym: "Alzheimer disease-4" EXACT [] +synonym: "Alzheimer's disease 4" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110040, MONDO:LexicalVariant, NCIT:C123413] +synonym: "Alzheimer's disease type 4" EXACT [MONDORULE:1] synonym: "familial Alzheimer disease, type 4" EXACT [NCIT:C123413] synonym: "familial Alzheimer's disease, type 4" EXACT [NCIT:C123413] xref: DOID:0110040 {source="MONDO:equivalentTo"} @@ -265590,11 +265637,11 @@ subset: ordo_disorder {source="Orphanet:140436"} subset: orphanet_rare {source="Orphanet:140436"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hemangioma, intraosseous" RELATED [OMIM:606893] +synonym: "hemangioma, intraosseous" RELATED [] synonym: "intraosseous hemangioma" EXACT [Orphanet:140436] synonym: "osseous venous malformation" EXACT [Orphanet:140436] -synonym: "vascular malformation osseous" RELATED [OMIM:606893] -synonym: "vascular malformation, primary intraosseous" RELATED [OMIM:606893] +synonym: "vascular malformation osseous" RELATED [] +synonym: "vascular malformation, primary intraosseous" RELATED [] xref: GARD:16961 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:140436/attributed", source="Orphanet:140436/ntbt", source="Orphanet:140436"} xref: MEDGEN:376071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -265654,10 +265701,10 @@ subset: rare synonym: "USH1G" EXACT ABBREVIATION [DOID:0110834, MONDO:Lexical, OMIM:606943] synonym: "USH1G Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Usher syndrome caused by mutation in USH1G" EXACT [MONDO:design_pattern] -synonym: "Usher syndrome type 1G" EXACT CLINGEN_LABEL [] +synonym: "Usher syndrome type 1G" EXACT CLINGEN_LABEL [DOID:0110834] synonym: "Usher syndrome type Ig" EXACT [DOID:0110834] -synonym: "Usher syndrome, type 1G" RELATED [OMIM:606943] -synonym: "USHER syndrome, type Ig" RELATED [MONDO:Lexical, OMIM:606943] +synonym: "Usher syndrome, type 1G" RELATED [] +synonym: "USHER syndrome, type Ig" RELATED [MONDO:Lexical] xref: DOID:0110834 {source="MONDO:equivalentTo"} xref: GARD:15404 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110834"} @@ -265683,17 +265730,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79434"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "albinism, oculocutaneous, type 1B" RELATED [OMIM:606952] -synonym: "albinism, oculocutaneous, type I, temperature-sensitive" RELATED [OMIM:606952] -synonym: "albinism, oculocutaneous, type IB" RELATED [MONDO:Lexical, OMIM:606952] +synonym: "albinism, oculocutaneous, type 1B" RELATED [] +synonym: "albinism, oculocutaneous, type I, temperature-sensitive" RELATED [] +synonym: "albinism, oculocutaneous, type IB" RELATED [MONDO:Lexical] synonym: "albinism, Yellow mutant type" EXACT [DOID:0070095, OMIM:606952] -synonym: "Oca1-Ts" RELATED [OMIM:606952] +synonym: "Oca1-Ts" RELATED [] synonym: "OCA1B" EXACT ABBREVIATION [DOID:0070095, MONDO:Lexical, OMIM:606952, Orphanet:79434] -synonym: "oculocutaneous albinism type IB" RELATED [DOID:0070095] +synonym: "oculocutaneous albinism type IB" RELATED [] synonym: "oculocutaneous albinism, Amish type" EXACT [Orphanet:79434] -synonym: "oculocutaneous albinism, type 1B" RELATED [OMIM:606952] +synonym: "oculocutaneous albinism, type 1B" RELATED [] synonym: "platinum oculocutaneous albinism" EXACT [Orphanet:79434] -synonym: "Yellow albinism" RELATED [OMIM:606952] +synonym: "Yellow albinism" RELATED [] synonym: "Yellow mutant albinism" RELATED [GARD:0000594] synonym: "Yellow oculocutaneous albinism" EXACT [Orphanet:79434] xref: DOID:0070095 {source="MONDO:equivalentTo"} @@ -265715,18 +265762,18 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/594/oculocut [Term] id: MONDO:0011750 name: obsolete insulinoma tumor suppressor gene locus -synonym: "insulinoma tumor suppressor gene locus" EXACT [OMIM:606960] +synonym: "insulinoma tumor suppressor gene locus" EXACT [] xref: OMIM:606960 {source="MONDO:obsoleteEquivalentObsolete"} is_obsolete: true [Term] id: MONDO:0011751 name: COPD, severe early onset -synonym: "COPD" BROAD ABBREVIATION [MONDO:Lexical, OMIM:606963] -synonym: "COPD, rate of decline of lung function in" EXACT [OMIM:606963, OMIM:genemap2] -synonym: "COPD, severe early-onset" EXACT [OMIM:606963] -synonym: "pulmonary disease, chronic obstructive" BROAD [MONDO:Lexical, OMIM:606963] -synonym: "pulmonary disease, chronic obstructive, severe early-onset" EXACT [OMIM:606963] +synonym: "COPD" BROAD ABBREVIATION [MONDO:Lexical] +synonym: "COPD, rate of decline of lung function in" EXACT [] +synonym: "COPD, severe early-onset" EXACT [] +synonym: "pulmonary disease, chronic obstructive" BROAD [MONDO:Lexical] +synonym: "pulmonary disease, chronic obstructive, severe early-onset" EXACT [] xref: MEDGEN:376022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606963 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1847014 {source="MEDGEN:376022", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -265745,9 +265792,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "juvenile nephronophthisis 4" EXACT [DOID:0111115] synonym: "nephronophthisis (disease) caused by mutation in NPHP4" EXACT [] -synonym: "nephronophthisis 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:606966] -synonym: "nephronophthisis 4, juvenile" RELATED [OMIM:606966] -synonym: "nephronophthisis type 4" EXACT [DOID:0111115, MONDORULE:1, OMIM:606966] +synonym: "nephronophthisis 4" EXACT CLINGEN_LABEL [DOID:0111115, MONDO:Lexical, OMIM:606966] +synonym: "nephronophthisis 4, juvenile" RELATED [] +synonym: "nephronophthisis type 4" EXACT [MONDORULE:1] synonym: "NPHP4" EXACT ABBREVIATION [DOID:0111115, MONDO:Lexical, OMIM:606966] synonym: "NPHP4 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0111115 {source="MONDO:equivalentTo"} @@ -265768,7 +265815,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011753 name: epilepsy, idiopathic generalized, susceptibility to, 2 subset: predisposition -synonym: "EIG2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606972] +synonym: "EIG2" EXACT ABBREVIATION [DOID:0111317, MONDO:Lexical, OMIM:606972] synonym: "epilepsy, idiopathic generalized, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:606972] synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14" EXACT [OMIM:606972] xref: DOID:0111317 {source="MONDO:equivalentTo"} @@ -265787,12 +265834,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype {source="Orphanet:99764"} subset: rare -synonym: "aldosterone synthase deficiency unrelated to CYP11B2" EXACT [Orphanet:99764] -synonym: "aldosterone synthase deficiency unrelated to the aldosterone synthase gene" EXACT [Orphanet:99764] -synonym: "FHHA2" EXACT ABBREVIATION [Orphanet:99764] -synonym: "Fhha2" RELATED [OMIM:606984] -synonym: "hyperreninemic hypoaldosteronism, familial, 2" RELATED [OMIM:606984] -synonym: "hyperreninemic hypoaldosteronism, familial, type 2" EXACT [MONDORULE:1, OMIM:606984] +synonym: "aldosterone synthase deficiency unrelated to CYP11B2" EXACT [] +synonym: "aldosterone synthase deficiency unrelated to the aldosterone synthase gene" EXACT [] +synonym: "FHHA2" EXACT ABBREVIATION [OMIM:606984] +synonym: "Fhha2" RELATED [] +synonym: "hyperreninemic hypoaldosteronism, familial, 2" RELATED [] +synonym: "hyperreninemic hypoaldosteronism, familial, type 2" EXACT [MONDORULE:1] xref: ICD10CM:E27.4 {source="Orphanet:99764", source="Orphanet:99764/attributed", source="Orphanet:99764/ntbt"} xref: MEDGEN:335571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564638 {source="MONDO:equivalentTo"} @@ -265808,7 +265855,7 @@ name: senior-loken syndrome 3 subset: gard_rare {source="GARD:15405", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SENIOR-Loken syndrome 3" RELATED [MONDO:Lexical, OMIM:606995] +synonym: "SENIOR-Loken syndrome 3" RELATED [MONDO:Lexical] synonym: "SLSN3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606995] xref: GARD:15405 {source="MONDO:GARD"} xref: MEDGEN:335569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -265827,11 +265874,11 @@ subset: gard_rare {source="GARD:15406", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "NPHP4 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SENIOR-Loken syndrome 4" RELATED [OMIM:606996] +synonym: "SENIOR-Loken syndrome 4" RELATED [] synonym: "Senior-Loken syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:606996] synonym: "Senior-Loken syndrome caused by mutation in NPHP4" EXACT [MONDO:design_pattern] -synonym: "Senior-Loken syndrome type 4" EXACT [MONDORULE:1, OMIM:606996] -synonym: "SLSN4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606996] +synonym: "Senior-Loken syndrome type 4" EXACT [MONDORULE:1] +synonym: "SLSN4" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15406 {source="MONDO:GARD"} xref: MEDGEN:337697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537581 {source="MONDO:equivalentTo"} @@ -265851,7 +265898,7 @@ subset: gard_rare {source="GARD:15407", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BDA1B" EXACT ABBREVIATION [DOID:0110974, MONDO:Lexical, OMIM:607004] -synonym: "brachydactyly, type A1, B" RELATED [MONDO:Lexical, OMIM:607004] +synonym: "brachydactyly, type A1, B" RELATED [MONDO:Lexical] xref: DOID:0110974 {source="MONDO:equivalentTo"} xref: GARD:15407 {source="MONDO:GARD"} xref: MEDGEN:339652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -265872,14 +265919,14 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93473"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Hurler disease" EXACT [Orphanet:93473] -synonym: "Hurler syndrome" EXACT CLINGEN_LABEL [OMIM:607014] +synonym: "Hurler syndrome" EXACT CLINGEN_LABEL [NCIT:C61261, OMIM:607014, Orphanet:93473] synonym: "MPS I H" EXACT [NCIT:C61261] synonym: "MPS1-H" RELATED [GARD:0012559] synonym: "MPS1H" EXACT ABBREVIATION [Orphanet:93473] synonym: "MPSIH" EXACT ABBREVIATION [Orphanet:93473] synonym: "mucopolysaccharidosis IH" RELATED [GARD:0012559] synonym: "mucopolysaccharidosis type 1H" EXACT [OMIM:607014, Orphanet:93473] -synonym: "mucopolysaccharidosis type IH" EXACT [Orphanet:93473] +synonym: "mucopolysaccharidosis type IH" EXACT [NCIT:C61261, Orphanet:93473] xref: DOID:0111390 {source="MONDO:equivalentTo"} xref: GARD:12559 {source="MONDO:GARD"} xref: ICD10CM:E76.0 {source="Orphanet:93473/attributed", source="Orphanet:93473/ntbt", source="Orphanet:93473"} @@ -265912,19 +265959,19 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93476"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Hurler-Scheie syndrome" EXACT CLINGEN_LABEL [OMIM:607015] +synonym: "Hurler-Scheie syndrome" EXACT CLINGEN_LABEL [NCIT:C122782, OMIM:607015, Orphanet:93476] synonym: "Hurler–Scheie syndrome" RELATED [GARD:0012560] synonym: "l-iduronidase deficiency, Scheie type" RELATED [] synonym: "MPS I H-S" EXACT [NCIT:C122782] synonym: "MPS1-HS" RELATED [GARD:0012560] -synonym: "MPS1H/S" EXACT [Orphanet:93476] -synonym: "MPSIH/S" EXACT [Orphanet:93476] +synonym: "MPS1H/S" EXACT ABBREVIATION [DOID:0111389, Orphanet:93476] +synonym: "MPSIH/S" EXACT ABBREVIATION [DOID:0111389, Orphanet:93476] synonym: "mucopolysaccharidosis IH/S" RELATED [GARD:0012560] -synonym: "mucopolysaccharidosis type 1H/S" EXACT [Orphanet:93476] +synonym: "mucopolysaccharidosis type 1H/S" EXACT [DOID:0111389, Orphanet:93476] synonym: "mucopolysaccharidosis type I mild form" RELATED [] synonym: "mucopolysaccharidosis type I-S" RELATED [] -synonym: "mucopolysaccharidosis type IH/S" EXACT [Orphanet:93476] -synonym: "mucopolysaccharidosis type Ih/S" RELATED [OMIM:607015] +synonym: "mucopolysaccharidosis type IH/S" EXACT [OMIM:607015, Orphanet:93476] +synonym: "mucopolysaccharidosis type Ih/S" RELATED [] synonym: "mucopolysaccharidosis, mps-I-s" EXACT [] synonym: "Scheie disease mps type 1s" RELATED [] synonym: "Scheie's syndrome" RELATED [] @@ -265958,8 +266005,8 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93474"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MPS I S" EXACT [NCIT:C61265] -synonym: "MPS V" RELATED [OMIM:607016] -synonym: "MPS V, formerly" RELATED [OMIM:607016] +synonym: "MPS V" RELATED [] +synonym: "MPS V, formerly" RELATED [] synonym: "MPS1-S" RELATED [GARD:0012561] synonym: "MPS1S" EXACT ABBREVIATION [Orphanet:93474] synonym: "MPS5, formerly" RELATED [GARD:0012561] @@ -265967,9 +266014,9 @@ synonym: "MPSIS" EXACT ABBREVIATION [Orphanet:93474] synonym: "mucopolysaccharidosis Is" RELATED [GARD:0012561] synonym: "mucopolysaccharidosis type 1S" EXACT [DOID:0060222, OMIM:607016, Orphanet:93474] synonym: "mucopolysaccharidosis type IS" EXACT [DOID:0060222, Orphanet:93474] -synonym: "mucopolysaccharidosis type V" EXACT [DOID:0060222, OMIM:607016] -synonym: "mucopolysaccharidosis type V, formerly" RELATED [OMIM:607016] -synonym: "Scheie syndrome" EXACT CLINGEN_LABEL [OMIM:607016] +synonym: "mucopolysaccharidosis type V" EXACT [DOID:0060222] +synonym: "mucopolysaccharidosis type V, formerly" RELATED [] +synonym: "Scheie syndrome" EXACT CLINGEN_LABEL [DOID:0060222, NCIT:C61265, OMIM:607016, Orphanet:93474] xref: DOID:0060222 {source="MONDO:equivalentTo"} xref: GARD:12561 {source="MONDO:GARD"} xref: ICD10CM:E76.0 {source="DOID:0060222", source="Orphanet:93474", source="Orphanet:93474/attributed", source="Orphanet:93474/ntbt"} @@ -265996,11 +266043,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18116", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 21" NARROW [DOID:0110551] -synonym: "autosomal dominant nonsyndromic deafness 21" NARROW [OMIM:607017] -synonym: "autosomal dominant nonsyndromic deafness type 21" NARROW [DOID:0110551, MONDORULE:2] -synonym: "deafness, autosomal dominant 21" NARROW [MONDO:Lexical, OMIM:607017, OMIM:genemap2] -synonym: "DFNA21" NARROW ABBREVIATION [DOID:0110551, MONDO:Lexical, OMIM:607017] +synonym: "autosomal dominant deafness 21" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 21" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 21" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 21" NARROW [MONDO:Lexical] +synonym: "DFNA21" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110551 {source="MONDO:equivalentTo"} xref: GARD:18116 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110551"} @@ -266020,14 +266067,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22601", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 22" NARROW [DOID:0110480] -synonym: "autosomal recessive nonsyndromic deafness 22" NARROW [OMIM:607039] +synonym: "autosomal recessive deafness 22" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 22" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOA" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 22" NARROW [DOID:0110480, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 22" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 22" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 22" NARROW [MONDO:Lexical, OMIM:607039, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 22" NARROW [MONDORULE:2, OMIM:607039] -synonym: "DFNB22" NARROW ABBREVIATION [DOID:0110480, MONDO:Lexical, OMIM:607039] +synonym: "deafness, autosomal recessive 22" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 22" NARROW [MONDORULE:2] +synonym: "DFNB22" NARROW ABBREVIATION [MONDO:Lexical] synonym: "OTOA autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110480 {source="MONDO:equivalentTo"} xref: GARD:22601 {source="MONDO:GARD"} @@ -266058,13 +266105,13 @@ def: "Any Parkinson disease in which the cause of the disease is a mutation in t subset: gard_rare {source="GARD:18476", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant Parkinson disease 8" EXACT CLINGEN_LABEL [] -synonym: "autosomal dominant Parkinson disease type 8" EXACT [DOID:0060371, MONDORULE:1] -synonym: "autosomal dominant Parkinson's disease 8" RELATED [DOID:0060371] +synonym: "autosomal dominant Parkinson disease 8" EXACT CLINGEN_LABEL [DOID:0060371] +synonym: "autosomal dominant Parkinson disease type 8" EXACT [MONDORULE:1] +synonym: "autosomal dominant Parkinson's disease 8" RELATED [] synonym: "LRRK2 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PARK8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607060] -synonym: "Parkinson disease 8" EXACT [OMIM:607060, OMIM:genemap2] -synonym: "Parkinson disease 8, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607060] +synonym: "PARK8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Parkinson disease 8" EXACT [] +synonym: "Parkinson disease 8, autosomal dominant" RELATED [MONDO:Lexical] synonym: "Parkinson disease caused by mutation in LRRK2" EXACT [MONDO:design_pattern] xref: DOID:0060371 {source="MONDO:equivalentTo"} xref: GARD:18476 {source="MONDO:GARD"} @@ -266090,19 +266137,19 @@ subset: ordo_disorder {source="Orphanet:93311"} subset: orphanet_rare {source="Orphanet:93311"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BHMED" EXACT ABBREVIATION [Orphanet:93311] +synonym: "BHMED" EXACT ABBREVIATION [DOID:0070299, Orphanet:93311] synonym: "bilateral hereditary micro-epiphyseal dysplasia" EXACT [Orphanet:93311] -synonym: "EDM5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607078, Orphanet:93311] +synonym: "EDM5" EXACT ABBREVIATION [DOID:0070299, MONDO:Lexical, OMIM:607078, Orphanet:93311] synonym: "epiphyseal dysplasia multiple 5" RELATED [GARD:0009794] -synonym: "epiphyseal dysplasia, multiple, 5" RELATED [MONDO:Lexical, OMIM:607078] -synonym: "epiphyseal dysplasia, multiple, type 5" EXACT [MONDORULE:1, OMIM:607078] +synonym: "epiphyseal dysplasia, multiple, 5" RELATED [MONDO:Lexical] +synonym: "epiphyseal dysplasia, multiple, type 5" EXACT [MONDORULE:1] synonym: "MATN3 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "MED5" EXACT ABBREVIATION [Orphanet:93311] -synonym: "Microepiphyseal dysplasia, bilateral hereditary" RELATED [OMIM:607078] +synonym: "Microepiphyseal dysplasia, bilateral hereditary" RELATED [] synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in MATN3" EXACT [] synonym: "multiple epiphyseal dysplasia 5" RELATED [GARD:0009794] synonym: "multiple epiphyseal dysplasia, MATN3 related" RELATED [GARD:0009794] -synonym: "multiple epiphyseal dysplasia, MATN3-related" RELATED [OMIM:607078] +synonym: "multiple epiphyseal dysplasia, MATN3-related" RELATED [] synonym: "Polyepiphyseal dysplasia type 5" EXACT [Orphanet:93311] xref: DOID:0070299 {source="MONDO:equivalentTo"} xref: GARD:9794 {source="MONDO:GARD"} @@ -266130,8 +266177,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:168563"} subset: orphanet_rare {source="Orphanet:168563"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy" RELATED [OMIM:607080] -synonym: "46XY gonadal dysgenesis with minifascicular neuropathy" EXACT [OMIM:607080, OMIM:genemap2] +synonym: "46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy" RELATED [] +synonym: "46XY gonadal dysgenesis with minifascicular neuropathy" EXACT [] xref: GARD:17034 {source="MONDO:GARD"} xref: ICD10CM:Q56.1 {source="Orphanet:168563", source="Orphanet:168563/attributed", source="Orphanet:168563/ntbt"} xref: MEDGEN:1727162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -266152,15 +266199,15 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22602", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 31" NARROW [DOID:0110490] -synonym: "autosomal recessive nonsyndromic deafness 31" NARROW [OMIM:607084] +synonym: "autosomal recessive deafness 31" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 31" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in WHRN" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 31" NARROW [DOID:0110490, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 31" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 31" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 31" NARROW [MONDO:Lexical, OMIM:607084, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 31" NARROW [MONDORULE:2, OMIM:607084] -synonym: "DFNB31" NARROW ABBREVIATION [DOID:0110490, MONDO:Lexical, OMIM:607084] -synonym: "whirler, mouse, homolog of" RELATED [OMIM:607084] +synonym: "deafness, autosomal recessive 31" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 31" NARROW [MONDORULE:2] +synonym: "DFNB31" NARROW ABBREVIATION [MONDO:Lexical] +synonym: "whirler, mouse, homolog of" RELATED [] synonym: "WHRN autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110490 {source="MONDO:equivalentTo"} xref: GARD:22602 {source="MONDO:GARD"} @@ -266181,7 +266228,7 @@ id: MONDO:0011768 name: myasthenia gravis with thymus hyperplasia subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Myas1" RELATED [OMIM:607085] +synonym: "Myas1" RELATED [] synonym: "myasthenia gravis with thymus hyperplasia" EXACT [OMIM:607085] xref: MEDGEN:375982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564628 {source="MONDO:equivalentTo"} @@ -266203,9 +266250,9 @@ name: aortic aneurysm, familial thoracic 2 subset: gard_rare {source="GARD:15409", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AAT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607087] +synonym: "AAT2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "aortic aneurysm, familial thoracic 2" EXACT [MONDO:Lexical, OMIM:607087] -synonym: "FAA2" RELATED ABBREVIATION [OMIM:607087] +synonym: "FAA2" RELATED ABBREVIATION [] xref: GARD:15409 {source="MONDO:GARD"} xref: MEDGEN:335538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564627 {source="MONDO:equivalentTo"} @@ -266224,20 +266271,20 @@ subset: ordo_disorder {source="Orphanet:139547"} subset: orphanet_rare {source="Orphanet:139547"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive distal spinal muscular atrophy type 3" EXACT [Orphanet:139547] -synonym: "dHMN3" RELATED [OMIM:607088] -synonym: "dHMN3 and dHMN4" EXACT [Orphanet:139547] -synonym: "dHMN4" RELATED [OMIM:607088] -synonym: "distal hereditary motor neuropathy type 3 and type 4" EXACT [Orphanet:139547] -synonym: "distal spinal muscular atrophy type 3" EXACT [Orphanet:139547] -synonym: "dSMA3" EXACT [MONDO:Lexical, OMIM:607088, Orphanet:139547] -synonym: "HMN 3" RELATED [OMIM:607088] -synonym: "HMN 4" RELATED [OMIM:607088] -synonym: "neuronopathy, distal hereditary motor, type 3" RELATED [OMIM:607088] -synonym: "neuronopathy, distal hereditary motor, type 4" RELATED [OMIM:607088] -synonym: "neuropathy, distal hereditary motor, type 4" RELATED [OMIM:607088] -synonym: "spinal muscular atrophy, chronic distal, autosomal recessive" EXACT [OMIM:607088, OMIM:genemap2] -synonym: "spinal muscular atrophy, distal, autosomal recessive, 3" RELATED [MONDO:Lexical, OMIM:607088] +synonym: "autosomal recessive distal spinal muscular atrophy type 3" EXACT [DOID:0111211, Orphanet:139547] +synonym: "dHMN3" RELATED [] +synonym: "dHMN3 and dHMN4" EXACT [DOID:0111211, Orphanet:139547] +synonym: "dHMN4" RELATED [] +synonym: "distal hereditary motor neuropathy type 3 and type 4" EXACT [DOID:0111211, Orphanet:139547] +synonym: "distal spinal muscular atrophy type 3" EXACT [DOID:0111211, Orphanet:139547] +synonym: "dSMA3" EXACT ABBREVIATION [DOID:0111211, MONDO:Lexical, Orphanet:139547] +synonym: "HMN 3" RELATED [] +synonym: "HMN 4" RELATED [] +synonym: "neuronopathy, distal hereditary motor, type 3" RELATED [] +synonym: "neuronopathy, distal hereditary motor, type 4" RELATED [] +synonym: "neuropathy, distal hereditary motor, type 4" RELATED [] +synonym: "spinal muscular atrophy, chronic distal, autosomal recessive" EXACT [] +synonym: "spinal muscular atrophy, distal, autosomal recessive, 3" RELATED [MONDO:Lexical] xref: DOID:0111211 {source="MONDO:equivalentTo"} xref: GARD:16956 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:139547", source="Orphanet:139547/attributed", source="Orphanet:139547/ntbt"} @@ -266266,13 +266313,13 @@ synonym: "B4GALT1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] synonym: "Beta-1,4-galactosyltransferase deficiency" EXACT [Orphanet:79332] synonym: "carbohydrate deficient glycoprotein syndrome type IId" EXACT [Orphanet:79332] synonym: "CDG 2D" RELATED [GARD:0009841] -synonym: "CDG IId" RELATED [OMIM:607091] +synonym: "CDG IId" RELATED [] synonym: "CDG syndrome type IId" EXACT [Orphanet:79332] synonym: "CDG-IId" EXACT [Orphanet:79332] -synonym: "CDG2D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607091, Orphanet:79332] +synonym: "CDG2D" EXACT ABBREVIATION [DOID:0070256, MONDO:Lexical, OMIM:607091, Orphanet:79332] synonym: "congenital disorder of glycosylation type 2d" EXACT [Orphanet:79332] -synonym: "congenital disorder of glycosylation type IId" EXACT [Orphanet:79332] -synonym: "congenital disorder of glycosylation, type IId" RELATED [MONDO:Lexical, OMIM:607091] +synonym: "congenital disorder of glycosylation type IId" EXACT [DOID:0070256, Orphanet:79332] +synonym: "congenital disorder of glycosylation, type IId" RELATED [MONDO:Lexical] xref: DOID:0070256 {source="MONDO:equivalentTo"} xref: GARD:9841 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:79332/attributed", source="Orphanet:79332/ntbt", source="Orphanet:79332"} @@ -266304,16 +266351,16 @@ subset: orphanet_rare {source="Orphanet:93347"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "anauxetic dysplasia" EXACT [OMIM:607095] -synonym: "anauxetic dysplasia 1" RELATED [DOID:0050640, OMIM:607095] -synonym: "anauxetic dysplasia type 1" EXACT [DOID:0050640, MONDORULE:1] -synonym: "ANXD1" RELATED ABBREVIATION [OMIM:607095] -synonym: "spondyloepimetaphyseal dysplasia, anauxetic type" EXACT [Orphanet:93347] -synonym: "spondyloepimetaphyseal dysplasia, Menger type" EXACT [Orphanet:93347] +synonym: "anauxetic dysplasia" EXACT [DOID:0080942, icd11.foundation:1897630209, OMIMPS:607095, Orphanet:93347] +synonym: "anauxetic dysplasia 1" RELATED [] +synonym: "anauxetic dysplasia type 1" EXACT [MONDORULE:1] +synonym: "ANXD1" RELATED ABBREVIATION [] +synonym: "spondyloepimetaphyseal dysplasia, anauxetic type" EXACT [icd11.foundation:1897630209, Orphanet:93347] +synonym: "spondyloepimetaphyseal dysplasia, Menger type" EXACT [icd11.foundation:1897630209, Orphanet:93347] synonym: "spondylometaepiphyseal dysplasia anauxetic type" RELATED [GARD:0009657] synonym: "spondylometaepiphyseal dysplasia Menger type" RELATED [GARD:0009657] -synonym: "spondylometaepiphyseal dysplasia, anauxetic type" RELATED [OMIM:607095] -synonym: "spondylometaepiphyseal dysplasia, Menger type" EXACT [DOID:0050640] +synonym: "spondylometaepiphyseal dysplasia, anauxetic type" RELATED [] +synonym: "spondylometaepiphyseal dysplasia, Menger type" EXACT [] xref: DOID:0080942 {source="MONDO:equivalentTo"} xref: GARD:9657 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93347", source="Orphanet:93347/attributed", source="Orphanet:93347/ntbt"} @@ -266333,14 +266380,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22603", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 30" NARROW [DOID:0110489] -synonym: "autosomal recessive nonsyndromic deafness 30" NARROW [OMIM:607101] +synonym: "autosomal recessive deafness 30" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 30" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO3A" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 30" NARROW [DOID:0110489, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 30" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 30" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 30" NARROW [MONDO:Lexical, OMIM:607101, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 30" NARROW [MONDORULE:2, OMIM:607101] -synonym: "DFNB30" NARROW ABBREVIATION [DOID:0110489, MONDO:Lexical, OMIM:607101] +synonym: "deafness, autosomal recessive 30" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 30" NARROW [MONDORULE:2] +synonym: "DFNB30" NARROW ABBREVIATION [MONDO:Lexical] synonym: "MYO3A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110489 {source="MONDO:equivalentTo"} xref: GARD:22603 {source="MONDO:GARD"} @@ -266364,14 +266411,14 @@ def: "Any nasopharyngeal carcinoma in which the cause of the disease is a mutati subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare -synonym: "nasopharyngeal cancer" RELATED [OMIM:607107] -synonym: "nasopharyngeal carcinoma" RELATED [OMIM:607107] -synonym: "nasopharyngeal carcinoma 1" EXACT [OMIM:607107, OMIM:genemap2] +synonym: "nasopharyngeal cancer" RELATED [] +synonym: "nasopharyngeal carcinoma" RELATED [] +synonym: "nasopharyngeal carcinoma 1" EXACT [] synonym: "nasopharyngeal carcinoma caused by mutation in TP53" EXACT [MONDO:design_pattern] -synonym: "nasopharyngeal carcinoma, somatic" EXACT [OMIM:607107, OMIM:genemap2] -synonym: "nasopharyngeal carcinoma, susceptibility to, 1" EXACT [OMIM:607107] -synonym: "NPC" RELATED ABBREVIATION [OMIM:607107] -synonym: "Npca" RELATED [OMIM:607107] +synonym: "nasopharyngeal carcinoma, somatic" EXACT [] +synonym: "nasopharyngeal carcinoma, susceptibility to, 1" EXACT [] +synonym: "NPC" RELATED ABBREVIATION [] +synonym: "Npca" RELATED [] synonym: "TP53 nasopharyngeal carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:339597 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607107 {source="MONDO:equivalentTo"} @@ -266397,22 +266444,22 @@ subset: ordo_disorder {source="Orphanet:1451"} subset: orphanet_rare {source="Orphanet:1451"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chronic infantile neurological cutaneous and articular syndrome" EXACT [NCIT:C116380] -synonym: "chronic infantile neurological cutaneous articular syndrome" EXACT [DOID:0090029, Orphanet:1451] +synonym: "chronic infantile neurological cutaneous and articular syndrome" EXACT [NCIT:C116380, Orphanet:1451] +synonym: "chronic infantile neurological cutaneous articular syndrome" EXACT [DOID:0090029] synonym: "chronic neurologic cutaneous and articular syndrome" EXACT [DOID:0090029, OMIM:607115] -synonym: "CINCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607115] -synonym: "CINCA syndrome" EXACT [MONDO:Lexical, OMIM:607115] +synonym: "CINCA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "CINCA syndrome" EXACT [DOID:0090029, MONDO:Lexical, NCIT:C116380, OMIM:607115, Orphanet:1451] synonym: "CINCA/NOMID" EXACT [NCIT:C116380] -synonym: "Cryopyrin-associated periodic syndrome 3" RELATED [OMIM:607115] -synonym: "cryopyrin-associated periodic syndrome 3" EXACT [DOID:0090029] +synonym: "Cryopyrin-associated periodic syndrome 3" RELATED [] +synonym: "cryopyrin-associated periodic syndrome 3" EXACT [DOID:0090029, OMIM:607115] synonym: "infantile onset multisystem inflammatory disease" RELATED [GARD:0001356] synonym: "infantile-onset multisystem inflammatory disease" EXACT [DOID:0090029, Orphanet:1451] synonym: "IOMID" RELATED ABBREVIATION [GARD:0001356] synonym: "IOMID syndrome" EXACT [DOID:0090029, Orphanet:1451] -synonym: "multisystem inflammatory disease, neonatal-onset" RELATED [OMIM:607115] +synonym: "multisystem inflammatory disease, neonatal-onset" RELATED [] synonym: "neonatal onset multisystem inflammatory disease" RELATED [GARD:0001356] -synonym: "Neonatal-Onset Multisystem Inflammatory Disease" EXACT [NORD:1496] -synonym: "neonatal-onset multisystem inflammatory disease" EXACT [DOID:0090029, Orphanet:1451] +synonym: "Neonatal-Onset Multisystem Inflammatory Disease" EXACT [DOID:0090029, NCIT:C116380, NORD:1496, Orphanet:1451] +synonym: "neonatal-onset multisystem inflammatory disease" EXACT [DOID:0090029, NCIT:C116380, Orphanet:1451] synonym: "NOMID" EXACT ABBREVIATION [NCIT:C116380] synonym: "NOMID syndrome" EXACT [DOID:0090029, Orphanet:1451] synonym: "Prieur Griscelli syndrome" RELATED [GARD:0001356] @@ -266444,14 +266491,14 @@ name: Alzheimer disease 8 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21." [DOID:0110041, PMID:9008509] subset: gard_rare {source="GARD:16512", source="MONDO:GARD"} subset: rare -synonym: "AD8" EXACT ABBREVIATION [DOID:0110041] -synonym: "Ad8" RELATED [OMIM:607116] +synonym: "AD8" EXACT ABBREVIATION [DOID:0110041, OMIM:607116] +synonym: "Ad8" RELATED [] synonym: "Alzheimer disease 8" EXACT [DOID:0110041, OMIM:607116] -synonym: "Alzheimer disease type 8" EXACT [MONDORULE:1, OMIM:607116] +synonym: "Alzheimer disease type 8" EXACT [MONDORULE:1] synonym: "Alzheimer disease, familial 8" EXACT [DOID:0110041] -synonym: "Alzheimer disease, familial, 8" RELATED [OMIM:607116] -synonym: "Alzheimer's disease 8" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 8" EXACT [DOID:0110041, MONDORULE:1] +synonym: "Alzheimer disease, familial, 8" RELATED [] +synonym: "Alzheimer's disease 8" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110041, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 8" EXACT [MONDORULE:1] xref: DOID:0110041 {source="MONDO:equivalentTo"} xref: GARD:16512 {source="MONDO:GARD"} xref: ICD10CM:G30 {source="DOID:0110041"} @@ -266472,12 +266519,12 @@ subset: ordo_disorder {source="Orphanet:166024"} subset: orphanet_rare {source="Orphanet:166024"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AGBK" RELATED ABBREVIATION [OMIM:607131] -synonym: "AL-Gazali-BAKALINOVA syndrome" RELATED [OMIM:607131] -synonym: "Al-Gazali-Bakalinova syndrome" RELATED [OMIM:607131] -synonym: "macrocephaly with multiple epiphyseal dysplasia and distinctive facies" RELATED [OMIM:607131] -synonym: "Mmedf" RELATED [OMIM:607131] -synonym: "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" EXACT [Orphanet:166024] +synonym: "AGBK" RELATED ABBREVIATION [] +synonym: "AL-Gazali-BAKALINOVA syndrome" RELATED [] +synonym: "Al-Gazali-Bakalinova syndrome" RELATED [] +synonym: "macrocephaly with multiple epiphyseal dysplasia and distinctive facies" RELATED [] +synonym: "Mmedf" RELATED [] +synonym: "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome" EXACT [] xref: GARD:17014 {source="MONDO:GARD"} xref: ICD10CM:Q77.3 {source="Orphanet:166024", source="MONDO:relatedTo", source="Orphanet:166024/attributed", source="Orphanet:166024/ntbt"} xref: icd11.foundation:1359939784 {source="MONDO:equivalentTo"} @@ -266496,7 +266543,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011779 name: laryngeal atresia, encephalocele, and limb deformities synonym: "laryngeal atresia, encephalocele, and limb deformities" EXACT [OMIM:607132] -synonym: "Lel" RELATED [OMIM:607132] +synonym: "Lel" RELATED [] xref: MEDGEN:335504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564620 {source="MONDO:equivalentTo"} xref: OMIM:607132 {source="MONDO:equivalentTo"} @@ -266508,8 +266555,8 @@ id: MONDO:0011780 name: specific language impairment 3 synonym: "SLI3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607134] synonym: "specific language impairment 3" EXACT [OMIM:607134] -synonym: "specific language impairment QTL, 3" EXACT [OMIM:607134, OMIM:genemap2] -synonym: "specific language impairment quantitative trait locus on chromosome 13" RELATED [OMIM:607134] +synonym: "specific language impairment QTL, 3" EXACT [] +synonym: "specific language impairment quantitative trait locus on chromosome 13" RELATED [] xref: MEDGEN:375953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607134 {source="MONDO:equivalentTo"} xref: UMLS:C1846719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375953"} @@ -266527,20 +266574,20 @@ subset: ordo_disorder {source="Orphanet:98759"} subset: orphanet_rare {source="Orphanet:98759"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebelloparenchymal disorder II" EXACT [MONDO:Lexical, OMIM:213100] -synonym: "CPD, late-onset recessive type" RELATED [OMIM:213100] -synonym: "CPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:213100] +synonym: "cerebelloparenchymal disorder II" EXACT [MONDO:Lexical] +synonym: "CPD, late-onset recessive type" RELATED [] +synonym: "CPD2" EXACT ABBREVIATION [MONDO:Lexical] synonym: "HDL4" EXACT ABBREVIATION [Orphanet:98759] synonym: "Huntington disease-like 4" EXACT [OMIM:607136, Orphanet:98759] -synonym: "olivopontocerebellar atrophy 5" EXACT [MONDO:0008122] -synonym: "olivopontocerebellar atrophy type 5" EXACT [MONDORULE:1, OMIM:164700] -synonym: "olivopontocerebellar atrophy V" RELATED [OMIM:164700] -synonym: "OPCA V" EXACT ABBREVIATION [OMIM:164700] -synonym: "OPCA with dementia and extrapyramidal signs" EXACT [OMIM:164700] +synonym: "olivopontocerebellar atrophy 5" EXACT [MONDO:0008122, OMIM:607136] +synonym: "olivopontocerebellar atrophy type 5" EXACT [MONDORULE:1] +synonym: "olivopontocerebellar atrophy V" RELATED [] +synonym: "OPCA V" EXACT ABBREVIATION [] +synonym: "OPCA with dementia and extrapyramidal signs" EXACT [] synonym: "SCA 17" EXACT [GARD:0010469] -synonym: "SCA17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607136, Orphanet:98759] +synonym: "SCA17" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C179861, OMIM:607136, Orphanet:98759] synonym: "spinocerebellar ataxia 17" EXACT [MONDO:Lexical, OMIM:607136] -synonym: "spinocerebellar ataxia type 17" EXACT [MONDORULE:2, OMIM:607136] +synonym: "spinocerebellar ataxia type 17" EXACT [DOID:0050967, icd11.foundation:1173627424, MONDORULE:2, NCIT:C179861, Orphanet:98759] xref: DOID:0050967 {source="MONDO:equivalentTo"} xref: GARD:10469 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:98759", source="Orphanet:98759/attributed", source="Orphanet:98759/ntbt"} @@ -266571,7 +266618,7 @@ id: MONDO:0011782 name: angioid streaks def: "Small breaks in the elastin-filled tissue of the retina." [MESH:D000793] subset: otar {source="MONDO:OTAR"} -synonym: "angioid streaks" EXACT [OMIM:607140] +synonym: "angioid streaks" EXACT [DOID:13401, OMIM:607140] xref: DOID:13401 {source="EFO:1000805", source="MONDO:equivalentTo"} xref: EFO:1000805 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MedDRA:10066191 {source="EFO:1000805"} @@ -266596,17 +266643,17 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ALG12-CDG" EXACT ABBREVIATION [Orphanet:79324] synonym: "ALG12-CDG (CDG-Ig)" RELATED [GARD:0009833] -synonym: "ALG12-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [GARD:0009833] +synonym: "ALG12-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [DOID:0080559, GARD:0009833] synonym: "carbohydrate deficient glycoprotein syndrome type Ig" EXACT [Orphanet:79324] synonym: "CDG 1G" RELATED [GARD:0009833] -synonym: "CDG Ig" RELATED [OMIM:607143] +synonym: "CDG Ig" RELATED [] synonym: "CDG syndrome type Ig" EXACT [Orphanet:79324] synonym: "CDG-Ig" EXACT [Orphanet:79324] synonym: "CDG1G" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607143, Orphanet:79324] synonym: "CDGIg" EXACT [NCIT:C126873] synonym: "congenital disorder of glycosylation type 1g" EXACT [Orphanet:79324] -synonym: "congenital disorder of glycosylation type Ig" EXACT [Orphanet:79324] -synonym: "congenital disorder of glycosylation, type Ig" RELATED [MONDO:Lexical, OMIM:607143] +synonym: "congenital disorder of glycosylation type Ig" EXACT [NCIT:C126873, Orphanet:79324] +synonym: "congenital disorder of glycosylation, type Ig" RELATED [MONDO:Lexical] synonym: "mannosyltransferase 8 deficiency" EXACT [Orphanet:79324] xref: DOID:0080559 {source="MONDO:equivalentTo"} xref: GARD:9833 {source="MONDO:GARD"} @@ -266633,11 +266680,11 @@ def: "Any Moyamoya disease in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:15410", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Moyamoya disease 2" EXACT [MONDO:Lexical, OMIM:607151] -synonym: "moyamoya disease 2, susceptibility to" EXACT [OMIM:607151, OMIM:genemap2] +synonym: "Moyamoya disease 2" EXACT [MONDO:Lexical, NCIT:C183312, OMIM:607151] +synonym: "moyamoya disease 2, susceptibility to" EXACT [] synonym: "Moyamoya disease caused by mutation in RNF213" EXACT [MONDO:design_pattern] -synonym: "Moyamoya disease type 2" EXACT [MONDORULE:1, OMIM:607151] -synonym: "MYMY2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607151] +synonym: "Moyamoya disease type 2" EXACT [MONDORULE:1] +synonym: "MYMY2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "RNF213 Moyamoya disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15410 {source="MONDO:GARD"} xref: MEDGEN:339584 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -266662,10 +266709,10 @@ subset: orphanet_rare {source="Orphanet:100999"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 19" EXACT [DOID:0110772] -synonym: "autosomal dominant spastic paraplegia type 19" EXACT [DOID:0110772] -synonym: "hereditary spastic paraplegia type 19" EXACT [DOID:0110772, MONDORULE:2] +synonym: "autosomal dominant spastic paraplegia type 19" EXACT [DOID:0110772, Orphanet:100999] +synonym: "hereditary spastic paraplegia type 19" EXACT [MONDORULE:2] synonym: "spastic paraplegia 19" RELATED [GARD:0009588] -synonym: "spastic paraplegia 19, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607152] +synonym: "spastic paraplegia 19, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG19" EXACT ABBREVIATION [DOID:0110772, MONDO:Lexical, OMIM:607152, Orphanet:100999] xref: DOID:0110772 {source="MONDO:equivalentTo"} xref: GARD:9588 {source="MONDO:GARD"} @@ -266686,15 +266733,15 @@ name: allergic rhinitis def: "Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life." [NCIT:C79532] subset: otar {source="MONDO:OTAR"} synonym: "allergic form of rhinitis" EXACT [MONDO:patterns/allergic_form_of_disease] -synonym: "allergic rhinitis" EXACT [NCIT:C79532, OMIM:607154] -synonym: "Alrh" RELATED [OMIM:607154] -synonym: "atopic rhinitis" NARROW [DOID:4481] -synonym: "hay fever" RELATED EXCLUDE [DOID:4481] -synonym: "non-seasonal allergic rhinitis" NARROW [DOID:4481] -synonym: "Perenial allergic rhinitis" NARROW [DOID:4481] -synonym: "perennial allergic rhinitis" NARROW [DOID:4481] +synonym: "allergic rhinitis" EXACT [DOID:4481, icd11.foundation:1711769234, NCIT:C79532] +synonym: "Alrh" RELATED [] +synonym: "atopic rhinitis" NARROW [] +synonym: "hay fever" RELATED EXCLUDE [] +synonym: "non-seasonal allergic rhinitis" NARROW [] +synonym: "Perenial allergic rhinitis" NARROW [] +synonym: "perennial allergic rhinitis" NARROW [] synonym: "pollenosis" EXACT [DOID:4481] -synonym: "seasonal allergic rhinitis" NARROW [DOID:4481] +synonym: "seasonal allergic rhinitis" NARROW [] xref: DOID:4481 {source="EFO:0005854", source="MONDO:equivalentTo"} xref: EFO:0005854 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0003193 {source="EFO:0005854", source="MONDO:otherHierarchy"} @@ -266728,18 +266775,18 @@ subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" EXACT [MONDO:design_pattern] synonym: "FKRP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LGMD-FKRP related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] -synonym: "LGMD2I" EXACT ABBREVIATION [DOID:0110299, Orphanet:34515] +synonym: "LGMD2I" EXACT ABBREVIATION [DOID:0110299, NCIT:C126739, Orphanet:34515] synonym: "limb-girdle muscular dystrophy due to FKRP deficiency" EXACT [DOID:0110299, Orphanet:34515] synonym: "limb-girdle muscular dystrophy type 2I" RELATED [GARD:0012533] -synonym: "MDDGC5" EXACT ABBREVIATION [DOID:0110299, MONDO:Lexical, OMIM:607155] +synonym: "MDDGC5" EXACT ABBREVIATION [DOID:0110299, MONDO:Lexical, NCIT:C126739, OMIM:607155] synonym: "muscular dystrophy limb-girdle type 2I" EXACT [DOID:0110299] -synonym: "muscular dystrophy, limb-girdle, type 2I" RELATED [OMIM:607155] +synonym: "muscular dystrophy, limb-girdle, type 2I" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5" EXACT [DOID:0110299] synonym: "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5" EXACT [NCIT:C126739] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5" RELATED [MONDO:Lexical, OMIM:607155] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5" EXACT [OMIM:607155] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C5" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related" EXACT [DOID:0110299] -synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related" RELATED [OMIM:607155] +synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related" RELATED [] xref: DOID:0110299 {source="MONDO:equivalentTo"} xref: GARD:12533 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:34515/inclusion", source="Orphanet:34515/ntbt", source="Orphanet:34515", source="DOID:0110299"} @@ -266770,7 +266817,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:93267"} subset: orphanet_rare {source="Orphanet:93267"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "multiple congenital anomalies syndrome with cloverleaf skull" RELATED [OMIM:607161] +synonym: "multiple congenital anomalies syndrome with cloverleaf skull" RELATED [] xref: GARD:16811 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:93267/attributed", source="Orphanet:93267/ntbt", source="Orphanet:93267"} xref: MEDGEN:375942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -266793,14 +266840,14 @@ subset: gard_rare {source="GARD:18385", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial meningioma" EXACT CLINGEN_LABEL [NCIT:C5301] +synonym: "familial meningioma" EXACT CLINGEN_LABEL [DOID:4586, NCIT:C5301] synonym: "hereditary meningioma" EXACT [NCIT:C5301] synonym: "hereditary meningioma (disease)" EXACT [MONDO:patterns/hereditary] -synonym: "meningioma" BROAD [OMIM:607174, OMIM:genemap2] -synonym: "meningioma, familial, susceptibility to" RELATED [OMIM:607174] -synonym: "meningioma, NF2-related, somatic" EXACT [OMIM:607174, OMIM:genemap2] -synonym: "meningioma, SIS-related" EXACT [OMIM:607174, OMIM:genemap2] -synonym: "susceptibility to familial meningioma" RELATED [OMIM:607174] +synonym: "meningioma" BROAD [] +synonym: "meningioma, familial, susceptibility to" RELATED [] +synonym: "meningioma, NF2-related, somatic" EXACT [] +synonym: "meningioma, SIS-related" EXACT [] +synonym: "susceptibility to familial meningioma" RELATED [] xref: DOID:4586 {source="MONDO:equivalentTo"} xref: GARD:18385 {source="MONDO:GARD"} xref: MEDGEN:764829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -266827,10 +266874,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:99742"} subset: orphanet_rare {source="Orphanet:99742"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Amish lethal microcephaly" EXACT [OMIM:607196] -synonym: "MCPHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607196] -synonym: "microcephaly, Amish type" RELATED [GARD:0008606, MONDO:Lexical, OMIM:607196] -synonym: "thiamine metabolism dysfunction syndrome 3 (microcephaly type)" RELATED [OMIM:607196] +synonym: "Amish lethal microcephaly" EXACT [OMIM:607196, Orphanet:99742] +synonym: "MCPHA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microcephaly, Amish type" RELATED [GARD:0008606, MONDO:Lexical] +synonym: "thiamine metabolism dysfunction syndrome 3 (microcephaly type)" RELATED [] xref: GARD:8606 {source="MONDO:GARD"} xref: ICD10CM:Q02 {source="Orphanet:99742", source="Orphanet:99742/attributed", source="Orphanet:99742/ntbt"} xref: MEDGEN:375938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -266860,11 +266907,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DUOX2 familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial thyroid dyshormonogenesis caused by mutation in DUOX2" EXACT [MONDO:design_pattern] -synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 6" RELATED [OMIM:607200] -synonym: "TDH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607200] -synonym: "thyroid dyshormonogenesis 6" EXACT [MONDO:Lexical, OMIM:607200] -synonym: "thyroid dyshormonogenesis type 6" EXACT [MONDORULE:1, OMIM:607200] -synonym: "thyroid hormonogenesis, genetic defect in, 6" RELATED [OMIM:607200] +synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 6" RELATED [] +synonym: "TDH6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thyroid dyshormonogenesis 6" EXACT [DOID:0112189, MONDO:Lexical, OMIM:607200] +synonym: "thyroid dyshormonogenesis type 6" EXACT [MONDORULE:1] +synonym: "thyroid hormonogenesis, genetic defect in, 6" RELATED [] xref: DOID:0112189 {source="MONDO:equivalentTo"} xref: GARD:18193 {source="MONDO:GARD"} xref: MEDGEN:375935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -266883,8 +266930,8 @@ name: celiac disease, susceptibility to, 5 subset: predisposition synonym: "celiac disease, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:607202] synonym: "CELIAC5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607202] -synonym: "gluten-sensitive enteropathy, susceptibility to, 5" RELATED [OMIM:607202] -synonym: "GSES" RELATED ABBREVIATION [OMIM:607202] +synonym: "gluten-sensitive enteropathy, susceptibility to, 5" RELATED [] +synonym: "GSES" RELATED ABBREVIATION [] xref: MEDGEN:337622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607202 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:607202"} @@ -266916,7 +266963,7 @@ subset: orphanet_rare {source="Orphanet:1094"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anonychia total with microcephaly" RELATED [GARD:0000709] -synonym: "anonychia, total, with microcephaly" RELATED [OMIM:607214] +synonym: "anonychia, total, with microcephaly" RELATED [] synonym: "Teebi-Kaurah syndrome" EXACT [Orphanet:1094] synonym: "total anonychia congenita and microcephaly" RELATED [GARD:0000709] synonym: "total anonychia with microcephaly" RELATED [GARD:0000709] @@ -266936,7 +266983,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/709/anonychi id: MONDO:0011796 name: epilepsy, partial, with pericentral spikes synonym: "epilepsy, partial, with pericentral spikes" EXACT [MONDO:Lexical, OMIM:607221] -synonym: "Epps" RELATED [OMIM:607221] +synonym: "Epps" RELATED [] synonym: "PEPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607221] xref: MEDGEN:337614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564605 {source="MONDO:equivalentTo"} @@ -266956,7 +267003,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "IAHSP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607225, Orphanet:293168] synonym: "spastic paralysis, infantile onset ascending" RELATED [GARD:0004914] -synonym: "spastic paralysis, infantile-onset ascending" RELATED [MONDO:Lexical, OMIM:607225] +synonym: "spastic paralysis, infantile-onset ascending" RELATED [MONDO:Lexical] xref: GARD:4914 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:293168", source="Orphanet:293168/attributed", source="Orphanet:293168/ntbt"} xref: ICD9:343.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -266974,8 +267021,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4914/infanti [Term] id: MONDO:0011798 name: hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration -synonym: "harp syndrome" RELATED [OMIM:607236] -synonym: "hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration" EXACT [OMIM:607236] +synonym: "harp syndrome" RELATED [] +synonym: "hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration" EXACT [] xref: MEDGEN:337612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564603 {source="MONDO:equivalentTo"} xref: OMIM:607236 {source="MONDO:equivalentObsolete"} @@ -266991,11 +267038,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22604", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 33" NARROW [DOID:0110492] -synonym: "autosomal recessive nonsyndromic deafness 33" NARROW [OMIM:607239] -synonym: "autosomal recessive nonsyndromic deafness type 33" NARROW [DOID:0110492, MONDORULE:2] -synonym: "deafness, autosomal recessive 33" NARROW [MONDO:Lexical, OMIM:607239, OMIM:genemap2] -synonym: "DFNB33" NARROW ABBREVIATION [DOID:0110492, MONDO:Lexical, OMIM:607239] +synonym: "autosomal recessive deafness 33" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 33" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 33" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 33" NARROW [MONDO:Lexical] +synonym: "DFNB33" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110492 {source="MONDO:equivalentTo"} xref: GARD:22604 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110492"} @@ -267031,15 +267078,15 @@ subset: ordo_disorder {source="Orphanet:94124"} subset: orphanet_rare {source="Orphanet:94124"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy" BROAD [DOID:0090115] +synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy" BROAD [] synonym: "SCAN1" EXACT ABBREVIATION [DOID:0090115, MONDO:Lexical, OMIM:607250, Orphanet:94124] synonym: "spinocerebellar ataxia autosomal recessive with axonal neuropathy" RELATED [GARD:0010000] -synonym: "spinocerebellar ataxia type 1 with axonal neuropathy" EXACT [Orphanet:94124] +synonym: "spinocerebellar ataxia type 1 with axonal neuropathy" EXACT [] synonym: "Spinocerebellar Ataxia with Axonal Neuropathy" EXACT [NORD:1730] synonym: "spinocerebellar ataxia with axonal neuropathy" RELATED [GARD:0010000] -synonym: "spinocerebellar ataxia with axonal neuropathy type 1" RELATED [Orphanet:94124] -synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy" BROAD [OMIM:607250] -synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" EXACT CLINGEN_LABEL [] +synonym: "spinocerebellar ataxia with axonal neuropathy type 1" RELATED [] +synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy" BROAD [] +synonym: "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" EXACT CLINGEN_LABEL [OMIM:607250] xref: DOID:0090115 {source="MONDO:equivalentTo"} xref: GARD:10000 {source="MONDO:GARD"} xref: ICD10CM:G60.2 {source="Orphanet:94124/attributed", source="Orphanet:94124/ntbt", source="Orphanet:94124", source="DOID:0090115"} @@ -267061,10 +267108,10 @@ name: hypercalciuria, absorptive, 1 subset: gard_rare {source="GARD:18584", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Hca1" RELATED [OMIM:607258] -synonym: "hypercalciuria, absorptive" EXACT [OMIM:607258, OMIM:genemap2] +synonym: "Hca1" RELATED [] +synonym: "hypercalciuria, absorptive" EXACT [] synonym: "hypercalciuria, absorptive, 1" EXACT [OMIM:607258] -synonym: "hypercalciuria, absorptive, type 1" EXACT [MONDORULE:1, OMIM:607258] +synonym: "hypercalciuria, absorptive, type 1" EXACT [MONDORULE:1] xref: GARD:18584 {source="MONDO:GARD"} xref: MEDGEN:375924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564600 {source="MONDO:equivalentTo"} @@ -267085,13 +267132,13 @@ subset: orphanet_rare {source="Orphanet:99013"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 7" EXACT [DOID:0110816] -synonym: "hereditary spastic paraplegia 7" EXACT CLINGEN_LABEL [] +synonym: "hereditary spastic paraplegia 7" EXACT CLINGEN_LABEL [DOID:0110816] synonym: "hereditary spastic paraplegia caused by mutation in SPG7" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia paraplegin type" RELATED [GARD:0004927] -synonym: "hereditary spastic paraplegia type 7" EXACT [DOID:0110816, MONDORULE:1] +synonym: "hereditary spastic paraplegia type 7" EXACT [MONDORULE:1] synonym: "spastic paraplegia 7" RELATED [GARD:0004927] -synonym: "spastic paraplegia 7, autosomal recessive" RELATED [MONDO:Lexical, OMIM:607259] -synonym: "spastic paraplegia type 7" EXACT [DOID:0110816] +synonym: "spastic paraplegia 7, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "spastic paraplegia type 7" EXACT [DOID:0110816, Orphanet:99013] synonym: "SPG7" EXACT ABBREVIATION [DOID:0110816, MONDO:Lexical, OMIM:607259, Orphanet:99013] synonym: "SPG7 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110816 {source="MONDO:equivalentTo"} @@ -267120,20 +267167,20 @@ subset: ordo_disorder {source="Orphanet:275517"} subset: orphanet_rare {source="Orphanet:275517"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALPS with recurrent viral infections" EXACT [DOID:0110116, Orphanet:275517] +synonym: "ALPS with recurrent viral infections" EXACT [DOID:0110116] synonym: "ALPS2B" EXACT ABBREVIATION [DOID:0110116] synonym: "autoimmune lymphoproliferative syndrome caused by mutation in CASP8" EXACT [MONDO:design_pattern] synonym: "autoimmune lymphoproliferative syndrome type IIB" EXACT [DOID:0110116] synonym: "autoimmune lymphoproliferative syndrome with recurrent viral infections" EXACT [DOID:0110116] -synonym: "autoimmune lymphoproliferative syndrome, type 2B" RELATED [OMIM:607271] -synonym: "autoimmune lymphoproliferative syndrome, type IIB" EXACT [OMIM:607271, OMIM:genemap2] +synonym: "autoimmune lymphoproliferative syndrome, type 2B" RELATED [] +synonym: "autoimmune lymphoproliferative syndrome, type IIB" EXACT [] synonym: "CASP8 autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "caspase 8 deficiency" EXACT [DOID:0110116, OMIM:607271] synonym: "caspase 8 deficiency syndrome" EXACT [DOID:0110116, Orphanet:275517] synonym: "caspase eight deficiency state" EXACT [DOID:0110116] synonym: "caspase-8 deficiency" RELATED [GARD:0009796] -synonym: "CEDS" EXACT ABBREVIATION [DOID:0110116, Orphanet:275517] -synonym: "Ceds" RELATED [OMIM:607271] +synonym: "CEDS" EXACT ABBREVIATION [DOID:0110116, OMIM:607271, Orphanet:275517] +synonym: "Ceds" RELATED [] xref: DOID:0110116 {source="MONDO:equivalentTo"} xref: GARD:9796 {source="MONDO:GARD"} xref: ICD10CM:D47.9 {source="DOID:0110116", source="Orphanet:275517/attributed", source="Orphanet:275517/ntbt", source="Orphanet:275517"} @@ -267154,11 +267201,11 @@ id: MONDO:0011805 name: asthma-related traits, susceptibility to, 1 def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "AS1" RELATED ABBREVIATION [OMIM:607277] -synonym: "ASRT1" RELATED ABBREVIATION [OMIM:607277] -synonym: "asthma, susceptibility to, 1" EXACT [OMIM:607277, OMIM:genemap2] +synonym: "AS1" RELATED ABBREVIATION [] +synonym: "ASRT1" RELATED ABBREVIATION [] +synonym: "asthma, susceptibility to, 1" EXACT [] synonym: "asthma-related traits, susceptibility to, 1" EXACT [OMIM:607277] -synonym: "asthma-related traits, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607277] +synonym: "asthma-related traits, susceptibility to, type 1" EXACT [MONDORULE:1] synonym: "inherited susceptibility to asthma caused by mutation in PTGDR" EXACT [MONDO:design_pattern] synonym: "PTGDR inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:339547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -267179,15 +267226,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:488265"} subset: orphanet_rare {source="Orphanet:488265"} subset: rare -synonym: "cortical fibrous dysplasia" EXACT [NCIT:C53970] +synonym: "cortical fibrous dysplasia" EXACT [] synonym: "Kempson-Campanacci lesion" EXACT [NCIT:C53970] -synonym: "OFD" EXACT ABBREVIATION [Orphanet:488265] +synonym: "OFD" EXACT ABBREVIATION [NCIT:C53970, OMIM:607278, Orphanet:488265] synonym: "OSFD" EXACT ABBREVIATION [OMIM:607278] synonym: "ossifying fibroma of long bones" EXACT [NCIT:C53970] -synonym: "osteofibrous dysplasia" EXACT [OMIM:607278] +synonym: "osteofibrous dysplasia" EXACT [NCIT:C53970, Orphanet:488265] synonym: "osteofibrous dysplasia of bone" EXACT [NCIT:C53970] -synonym: "osteofibrous dysplasia, susceptibility to" RELATED [OMIM:607278] -synonym: "tibia, bowing of, with pseudarthrosis and pectus excavatum" EXACT [OMIM:609143] +synonym: "osteofibrous dysplasia, susceptibility to" RELATED [] +synonym: "tibia, bowing of, with pseudarthrosis and pectus excavatum" EXACT [OMIM:607278] xref: GARD:10887 {source="MONDO:GARD"} xref: MEDGEN:895748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563276 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -267208,7 +267255,7 @@ name: systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 subset: predisposition synonym: "SLEH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607279] synonym: "systemic lupus erythematosus with hemolytic anaemia" EXACT OMO:0003005 [] -synonym: "systemic lupus erythematosus with hemolytic anemia" EXACT [OMIM:607279, OMIM:genemap2] +synonym: "systemic lupus erythematosus with hemolytic anemia" EXACT [] synonym: "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607279] synonym: "systemic lupus erythematosus, hemolytic Anemia-related" EXACT [OMIM:607279] xref: MEDGEN:375913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -267226,11 +267273,11 @@ def: "A cataract that has material basis in mutation in the region 2p12." [DOID: subset: gard_rare {source="GARD:18235", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 27" EXACT [MONDO:Lexical, OMIM:607304] +synonym: "cataract 27" EXACT [DOID:0110233, MONDO:Lexical, OMIM:607304] synonym: "cataract 27 nuclear progressive" EXACT [DOID:0110233] -synonym: "cataract 27, nuclear progressive" RELATED [OMIM:607304] -synonym: "cataract type 27" EXACT [DOID:0110233, MONDORULE:2] -synonym: "Ccnp" RELATED [OMIM:607304] +synonym: "cataract 27, nuclear progressive" RELATED [] +synonym: "cataract type 27" EXACT [MONDORULE:2] +synonym: "Ccnp" RELATED [] synonym: "CTRCT27" EXACT ABBREVIATION [DOID:0110233, MONDO:Lexical, OMIM:607304] xref: DOID:0110233 {source="MONDO:equivalentTo"} xref: GARD:18235 {source="MONDO:GARD"} @@ -267248,7 +267295,7 @@ is_a: MONDO:0020376 {source="Orphanet:98991/btnt", source="PMID:12091400"} ! ear [Term] id: MONDO:0011809 name: obsolete mammographic density -synonym: "mammographic density" EXACT [OMIM:607308] +synonym: "mammographic density" EXACT [] xref: MESH:C564595 {source="MONDO:obsoleteEquivalent"} xref: OMIM:607308 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -267264,10 +267311,10 @@ subset: orphanet_rare {source="Orphanet:2744"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "gaze palsy, familial horizontal, with progressive scoliosis" RELATED [GARD:0012682, MONDO:Lexical, OMIM:607313] +synonym: "gaze palsy, familial horizontal, with progressive scoliosis" RELATED [GARD:0012682, MONDO:Lexical] synonym: "gaze palsy, horizontal, with progressive scoliosis" RELATED [GARD:0012682] -synonym: "HGPPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607313, Orphanet:2744] -synonym: "ophthalmoplegia, progressive external, and scoliosis" RELATED [OMIM:607313] +synonym: "HGPPS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:2744] +synonym: "ophthalmoplegia, progressive external, and scoliosis" RELATED [] synonym: "progressive external ophthalmoplegia and scoliosis" EXACT [Orphanet:2744] xref: GARD:12682 {source="MONDO:GARD"} xref: ICD10CM:H49.4 {source="MONDO:relatedTo", source="Orphanet:2744", source="Orphanet:2744/attributed", source="Orphanet:2744/ntbt"} @@ -267295,14 +267342,14 @@ subset: ordo_disorder {source="Orphanet:95434"} subset: orphanet_rare {source="Orphanet:95434"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCAR4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607317, Orphanet:95434] -synonym: "SCASI" EXACT ABBREVIATION [Orphanet:95434] -synonym: "spinocerebellar ataxia 24" RELATED [OMIM:607317] +synonym: "SCAR4" EXACT ABBREVIATION [DOID:0111611, MONDO:Lexical, OMIM:607317, Orphanet:95434] +synonym: "SCASI" EXACT ABBREVIATION [DOID:0111611, Orphanet:95434] +synonym: "spinocerebellar ataxia 24" RELATED [] synonym: "spinocerebellar ataxia 24 (formerly)" RELATED [GARD:0004952] -synonym: "spinocerebellar ataxia 24, formerly" RELATED [OMIM:607317] +synonym: "spinocerebellar ataxia 24, formerly" RELATED [] synonym: "spinocerebellar ataxia autosomal recessive 4" RELATED [GARD:0004952] -synonym: "spinocerebellar ataxia with saccadic Intrusions" RELATED [OMIM:607317] -synonym: "spinocerebellar ataxia, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:607317] +synonym: "spinocerebellar ataxia with saccadic Intrusions" RELATED [] +synonym: "spinocerebellar ataxia, autosomal recessive 4" RELATED [MONDO:Lexical] xref: DOID:0111611 {source="MONDO:equivalentTo"} xref: GARD:4952 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:95434/attributed", source="Orphanet:95434/ntbt", source="Orphanet:95434"} @@ -267325,14 +267372,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:959", source="Orphanet:9329 subset: orphanet_rare {source="Orphanet:959", source="Orphanet:93293"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acro-renal-ocular syndrome" EXACT [MONDO:0019863] -synonym: "acrorenocular syndrome" EXACT [DOID:0060747, OMIM:607323] +synonym: "acro-renal-ocular syndrome" EXACT [MONDO:0019863, Orphanet:959] +synonym: "acrorenocular syndrome" EXACT [DOID:0060747] synonym: "DR syndrome" EXACT [DOID:0060747, OMIM:607323] synonym: "DRRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607323] synonym: "Duane anomaly with radial abnormalities and deafness" RELATED [GARD:0009182] synonym: "Duane anomaly with radial ray abnormalities and deafness" EXACT [DOID:0060747, OMIM:607323] -synonym: "Duane-radial ray syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607323, Orphanet:93293] -synonym: "Okihiro syndrome" EXACT [DOID:0060747, GARD:0009182, OMIM:607323] +synonym: "Duane-radial ray syndrome" EXACT CLINGEN_LABEL [DOID:0060747, MONDO:Lexical, OMIM:607323, Orphanet:93293] +synonym: "Okihiro syndrome" EXACT [DOID:0060747, GARD:0009182, OMIM:607323, Orphanet:93293] xref: DOID:0060747 {source="MONDO:equivalentTo"} xref: GARD:9182 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:93293/attributed", source="Orphanet:93293/ntbt", source="Orphanet:959", source="DOID:0060747", source="Orphanet:959/attributed", source="Orphanet:959/ntbt", source="Orphanet:93293"} @@ -267363,10 +267410,10 @@ name: polydactyly, postaxial, type A3 subset: gard_rare {source="GARD:18174", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PAPA3" RELATED ABBREVIATION [OMIM:607324] -synonym: "Papa3" RELATED [OMIM:607324] +synonym: "PAPA3" RELATED ABBREVIATION [] +synonym: "Papa3" RELATED [] synonym: "polydactyly, postaxial, type A3" EXACT [OMIM:607324] -synonym: "postaxial polydactyly, type A3" RELATED [OMIM:607324] +synonym: "postaxial polydactyly, type A3" RELATED [] xref: GARD:18174 {source="MONDO:GARD"} xref: MEDGEN:337585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564590 {source="MONDO:equivalentTo"} @@ -267383,13 +267430,13 @@ subset: gard_rare {source="GARD:15411", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DYM Smith-McCort dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SMC" RELATED ABBREVIATION [OMIM:607326] -synonym: "Smc1" RELATED [MONDO:Lexical, OMIM:607326] -synonym: "Smith-McCort dysplasia" BROAD [OMIM:607326, OMIM:genemap2] -synonym: "SMITH-McCort dysplasia 1" RELATED [OMIM:607326] -synonym: "Smith-McCort dysplasia 1" EXACT [MONDO:Lexical, OMIM:607326] +synonym: "SMC" RELATED ABBREVIATION [] +synonym: "Smc1" RELATED [MONDO:Lexical] +synonym: "Smith-McCort dysplasia" BROAD [] +synonym: "SMITH-McCort dysplasia 1" RELATED [] +synonym: "Smith-McCort dysplasia 1" EXACT [DOID:0081270, MONDO:Lexical, OMIM:607326] synonym: "Smith-McCort dysplasia caused by mutation in DYM" EXACT [MONDO:design_pattern] -synonym: "Smith-McCort dysplasia type 1" EXACT [MONDORULE:1, OMIM:607326] +synonym: "Smith-McCort dysplasia type 1" EXACT [MONDORULE:1] xref: DOID:0081270 {source="MONDO:equivalentTo"} xref: GARD:15411 {source="MONDO:GARD"} xref: MEDGEN:854757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -267407,8 +267454,8 @@ id: MONDO:0011815 name: hypertension, essential, susceptibility to, 3 subset: predisposition synonym: "hypertension, essential, susceptibility to, 3" EXACT [OMIM:607329] -synonym: "hypertension, essential, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:607329] -synonym: "Hyt3" RELATED [OMIM:607329] +synonym: "hypertension, essential, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "Hyt3" RELATED [] xref: MEDGEN:339523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607329 {source="MONDO:equivalentTo"} xref: UMLS:C1846430 {source="MEDGEN:339523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -267428,9 +267475,9 @@ subset: ordo_disorder {source="Orphanet:46059"} subset: orphanet_rare {source="Orphanet:46059"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lathosterolosis" EXACT [OMIM:607330] -synonym: "Sc5D deficiency" RELATED [OMIM:607330] -synonym: "sterol C5-desaturase deficiency" EXACT [OMIM:607330, Orphanet:46059] +synonym: "lathosterolosis" EXACT [icd11.foundation:1816858203, OMIM:607330, Orphanet:46059] +synonym: "Sc5D deficiency" RELATED [] +synonym: "sterol C5-desaturase deficiency" EXACT [icd11.foundation:1816858203, OMIM:607330, Orphanet:46059] xref: GARD:9711 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:46059/attributed", source="Orphanet:46059/ntbt", source="Orphanet:46059"} xref: icd11.foundation:1816858203 {source="MONDO:equivalentTo"} @@ -267450,12 +267497,12 @@ id: MONDO:0011817 name: coronary heart disease, susceptibility to, 1 def: "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "Chds1" RELATED [OMIM:607339] +synonym: "Chds1" RELATED [] synonym: "coronary artery disease caused by mutation in CX3CR1" EXACT [MONDO:design_pattern] -synonym: "coronary artery disease, resistance to" EXACT [OMIM:607339, OMIM:genemap2] -synonym: "coronary heart disease, susceptibility to" EXACT [OMIM:607339, OMIM:genemap2] +synonym: "coronary artery disease, resistance to" EXACT [] +synonym: "coronary heart disease, susceptibility to" EXACT [] synonym: "coronary heart disease, susceptibility to, 1" EXACT [OMIM:607339] -synonym: "coronary heart disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607339] +synonym: "coronary heart disease, susceptibility to, type 1" EXACT [MONDORULE:1] synonym: "CX3CR1 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:375884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607339 {source="MONDO:equivalentTo"} @@ -267480,27 +267527,27 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:268994"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CDT" RELATED ABBREVIATION [GARD:0010190] -synonym: "cortical dysplasia of Taylor" RELATED [GARD:0010190, OMIM:607341] -synonym: "cortical dysplasia of Taylor with balloon cells" RELATED [OMIM:607341] -synonym: "cortical dysplasia of Taylor without balloon cells" RELATED [OMIM:607341] -synonym: "cortical dysplasia of Taylor, dysplasia only" RELATED [OMIM:607341] +synonym: "cortical dysplasia of Taylor" RELATED [GARD:0010190] +synonym: "cortical dysplasia of Taylor with balloon cells" RELATED [] +synonym: "cortical dysplasia of Taylor without balloon cells" RELATED [] +synonym: "cortical dysplasia of Taylor, dysplasia only" RELATED [] synonym: "cortical dysplasia, Taylor type" EXACT [Orphanet:268994] -synonym: "FCD 2A" RELATED [OMIM:607341] -synonym: "FCD 2B" RELATED [OMIM:607341] +synonym: "FCD 2A" RELATED [] +synonym: "FCD 2B" RELATED [] synonym: "FCD type II" EXACT [Orphanet:268994] -synonym: "Fcd2" RELATED [OMIM:607341] -synonym: "FCDT" RELATED ABBREVIATION [GARD:0010190, MONDO:Lexical, OMIM:607341] -synonym: "FCORD2" RELATED ABBREVIATION [OMIM:607341] -synonym: "focal cortical dysplasia of Taylor" RELATED [MONDO:Lexical, OMIM:607341] -synonym: "focal cortical dysplasia of Taylor, type 2A" RELATED [OMIM:607341] -synonym: "focal cortical dysplasia of Taylor, type 2B" RELATED [OMIM:607341] +synonym: "Fcd2" RELATED [] +synonym: "FCDT" RELATED ABBREVIATION [GARD:0010190, MONDO:Lexical] +synonym: "FCORD2" RELATED ABBREVIATION [] +synonym: "focal cortical dysplasia of Taylor" RELATED [MONDO:Lexical] +synonym: "focal cortical dysplasia of Taylor, type 2A" RELATED [] +synonym: "focal cortical dysplasia of Taylor, type 2B" RELATED [] synonym: "focal cortical dysplasia type 2" RELATED [GARD:0010190] synonym: "focal cortical dysplasia type II" RELATED [GARD:0010190] -synonym: "focal cortical dysplasia, type 2" RELATED [OMIM:607341] -synonym: "focal cortical dysplasia, type 2A" RELATED [OMIM:607341] -synonym: "focal cortical dysplasia, type 2B" RELATED [OMIM:607341] -synonym: "focal cortical dysplasia, type II" RELATED [OMIM:607341] -synonym: "focal cortical dysplasia, type II, somatic" EXACT [OMIM:607341, OMIM:genemap2] +synonym: "focal cortical dysplasia, type 2" RELATED [] +synonym: "focal cortical dysplasia, type 2A" RELATED [] +synonym: "focal cortical dysplasia, type 2B" RELATED [] +synonym: "focal cortical dysplasia, type II" RELATED [] +synonym: "focal cortical dysplasia, type II, somatic" EXACT [] synonym: "isolated focal cortical dysplasia type 2" EXACT [Orphanet:268994] xref: GARD:10190 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:268994/attributed", source="Orphanet:268994/ntbt", source="Orphanet:268994"} @@ -267527,12 +267574,12 @@ subset: ordo_disorder {source="Orphanet:98772"} subset: orphanet_rare {source="Orphanet:98772"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCA19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607346] -synonym: "SCA19/22" EXACT [Orphanet:98772] -synonym: "spinocerebellar ataxia 19" RELATED [MONDO:Lexical, OMIM:607346] +synonym: "SCA19" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "SCA19/22" EXACT ABBREVIATION [Orphanet:98772] +synonym: "spinocerebellar ataxia 19" RELATED [MONDO:Lexical] synonym: "spinocerebellar ataxia 19 and 22" RELATED [GARD:0012365] -synonym: "spinocerebellar ataxia 22" RELATED [OMIM:607346] -synonym: "spinocerebellar ataxia type 19" EXACT [MONDORULE:2, OMIM:607346] +synonym: "spinocerebellar ataxia 22" RELATED [] +synonym: "spinocerebellar ataxia type 19" EXACT [MONDORULE:2] xref: DOID:0050970 {source="MONDO:equivalentTo"} xref: GARD:12365 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:98772/attributed", source="Orphanet:98772/ntbt", source="Orphanet:98772"} @@ -267553,7 +267600,7 @@ id: MONDO:0011820 name: scoliosis, isolated, susceptibility to, 2 subset: predisposition synonym: "IS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607354] -synonym: "scoliosis, idiopathic 2" EXACT [OMIM:607354, OMIM:genemap2] +synonym: "scoliosis, idiopathic 2" EXACT [] synonym: "scoliosis, isolated, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:607354] xref: MEDGEN:375871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607354 {source="MONDO:equivalentTo"} @@ -267569,7 +267616,7 @@ def: "Any Meckel syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:8744", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Meckel syndrome 3" RELATED [DOID:0070117] +synonym: "Meckel syndrome 3" RELATED [] synonym: "Meckel syndrome caused by mutation in TMEM67" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome type 3" RELATED [GARD:0008744] synonym: "Meckel syndrome, type 3" EXACT [MONDO:Lexical, OMIM:607361] @@ -267601,15 +267648,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93605"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult Bartter syndrome" EXACT [Orphanet:93605] -synonym: "BARTS3" EXACT ABBREVIATION [DOID:0110144] -synonym: "Bartter disease type 3" EXACT CLINGEN_LABEL [] +synonym: "adult Bartter syndrome" EXACT [] +synonym: "BARTS3" EXACT ABBREVIATION [DOID:0110144, OMIM:607364] +synonym: "Bartter disease type 3" EXACT CLINGEN_LABEL [DOID:0110144] synonym: "Bartter syndrome classic" RELATED [GARD:0009659] synonym: "Bartter syndrome type 3" EXACT [DOID:0110144, Orphanet:93605] synonym: "Bartter syndrome type III" EXACT [Orphanet:93605] -synonym: "Bartter syndrome, classic" RELATED [OMIM:607364] -synonym: "Bartter syndrome, type 3" RELATED [OMIM:607364] -synonym: "Bartter syndrome, type 3, with hypocalciuria" RELATED [OMIM:607364] +synonym: "Bartter syndrome, classic" RELATED [] +synonym: "Bartter syndrome, type 3" RELATED [] +synonym: "Bartter syndrome, type 3, with hypocalciuria" RELATED [] synonym: "classic Bartter syndrome" EXACT [DOID:0110144] xref: DOID:0110144 {source="MONDO:equivalentTo"} xref: GARD:9659 {source="MONDO:GARD"} @@ -267634,8 +267681,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:79107"} subset: orphanet_rare {source="Orphanet:79107"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DJO" RELATED ABBREVIATION [MESH:C537704, MONDO:Lexical, OMIM:607371] -synonym: "dystonia, juvenile-onset" RELATED [GARD:0009818, MESH:C537704, MONDO:Lexical, OMIM:607371] +synonym: "DJO" RELATED ABBREVIATION [MESH:C537704, MONDO:Lexical] +synonym: "dystonia, juvenile-onset" RELATED [GARD:0009818, MESH:C537704, MONDO:Lexical] synonym: "juvenile-onset dystonia" RELATED [GARD:0009818] xref: GARD:9818 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:79107/attributed", source="Orphanet:79107/ntbt", source="Orphanet:79107"} @@ -267654,10 +267701,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9818/juvenil id: MONDO:0011824 name: autism, susceptibility to, 8 subset: predisposition -synonym: "autism susceptibility 8, isolated cases" EXACT [OMIM:607373, OMIM:genemap2] +synonym: "autism susceptibility 8, isolated cases" EXACT [] synonym: "autism, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:607373] -synonym: "AUTS2" RELATED ABBREVIATION [OMIM:607373] -synonym: "AUTS2, formerly" RELATED [OMIM:607373] +synonym: "AUTS2" RELATED ABBREVIATION [] +synonym: "AUTS2, formerly" RELATED [] synonym: "AUTS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607373] xref: MEDGEN:409897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607373 {source="MONDO:equivalentTo"} @@ -267683,11 +267730,11 @@ def: "Any familial glucocorticoid deficiency in which the cause of the disease i subset: gard_rare {source="GARD:15412", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "familial glucocorticoid deficiency 2" RELATED [OMIM:607398] +synonym: "familial glucocorticoid deficiency 2" RELATED [] synonym: "familial glucocorticoid deficiency caused by mutation in MRAP" EXACT [MONDO:design_pattern] -synonym: "GCCD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607398] +synonym: "GCCD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "glucocorticoid deficiency 2" EXACT [MONDO:Lexical, OMIM:607398] -synonym: "glucocorticoid deficiency type 2" EXACT [MONDORULE:1, OMIM:607398] +synonym: "glucocorticoid deficiency type 2" EXACT [MONDORULE:1] synonym: "MRAP familial glucocorticoid deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15412 {source="MONDO:GARD"} xref: MEDGEN:891117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -267712,11 +267759,11 @@ subset: prototype_pattern subset: rare synonym: "ductus arteriosus, patent" RELATED [DOID:13832] synonym: "patency of the ductus arteriosus" RELATED [GARD:0007342] -synonym: "patent ductus arteriosus" EXACT [Orphanet:706] +synonym: "patent ductus arteriosus" EXACT [DOID:13832, ICD10CM:Q25.0, NCIT:C84492, OMIMPS:607411] synonym: "patent ductus arteriosus familial (type)" RELATED [GARD:0007342] synonym: "patent ductus botalli" EXACT [DOID:13832] synonym: "PDA" EXACT ABBREVIATION [NCIT:C84492] -synonym: "persistent patency of the arterial duct" EXACT [Orphanet:706] +synonym: "persistent patency of the arterial duct" EXACT [] xref: DOID:13832 {source="MONDO:equivalentTo"} xref: ICD10CM:Q25.0 {source="DOID:13832", source="MONDO:equivalentTo"} xref: ICD9:747.0 {source="DOID:13832", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -267746,13 +267793,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN" EXACT [MONDO:design_pattern] synonym: "CRBN autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal recessive 2" EXACT [MONDO:Lexical, OMIM:607417] -synonym: "intellectual disability, autosomal recessive 2A" RELATED [OMIM:607417] -synonym: "intellectual disability, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:607417] -synonym: "mental retardation, autosomal recessive 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:607417] -synonym: "mental retardation, autosomal recessive 2A" RELATED DEPRECATED [OMIM:607417] -synonym: "mental retardation, autosomal recessive type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:607417] -synonym: "MRT2" RELATED DEPRECATED [MONDO:Lexical, OMIM:607417] +synonym: "intellectual disability, autosomal recessive 2" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive 2A" RELATED [] +synonym: "intellectual disability, autosomal recessive type 2" EXACT [MONDORULE:1] +synonym: "mental retardation, autosomal recessive 2" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 2A" RELATED DEPRECATED [] +synonym: "mental retardation, autosomal recessive type 2" EXACT DEPRECATED [MONDORULE:1] +synonym: "MRT2" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081178 {source="MONDO:equivalentTo"} xref: GARD:22538 {source="MONDO:GARD"} xref: MEDGEN:334541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -267771,15 +267818,15 @@ def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:18378", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "coenzyme Q deficiency 1" RELATED [OMIM:607426] +synonym: "coenzyme Q deficiency 1" RELATED [] synonym: "coenzyme Q10 deficiency caused by mutation in COQ2" EXACT [MONDO:design_pattern] synonym: "coenzyme Q10 deficiency, primary, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607426] -synonym: "coenzyme Q10 deficiency, primary, type 1" EXACT [MONDORULE:1, OMIM:607426] -synonym: "CoQ deficiency 1" RELATED [OMIM:607426] -synonym: "Coq10 deficiency, primary, 1" RELATED [OMIM:607426] -synonym: "COQ10D1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607426] +synonym: "coenzyme Q10 deficiency, primary, type 1" EXACT [MONDORULE:1] +synonym: "CoQ deficiency 1" RELATED [] +synonym: "Coq10 deficiency, primary, 1" RELATED [] +synonym: "COQ10D1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "COQ2 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ubiquinone deficiency 1" RELATED [OMIM:607426] +synonym: "ubiquinone deficiency 1" RELATED [] xref: DOID:0070238 {source="MONDO:equivalentTo"} xref: GARD:18378 {source="MONDO:GARD"} xref: MEDGEN:764868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -267801,14 +267848,14 @@ subset: ordo_disorder {source="Orphanet:95232"} subset: orphanet_rare {source="Orphanet:95232"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LIS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607432] -synonym: "lissencephaly 1" RELATED [MONDO:Lexical, OMIM:607432] -synonym: "lissencephaly sequence, isolated" RELATED [OMIM:607432] -synonym: "lissencephaly type 1" RELATED EXCLUDE [MONDORULE:1, OMIM:607432] -synonym: "lissencephaly, classic" RELATED [OMIM:607432] -synonym: "PAFAH1B1-related lissencephaly" EXACT [Orphanet:95232] -synonym: "subcortical band heterotopia" RELATED [OMIM:607432] -synonym: "subcortical laminar heterotopia" RELATED [OMIM:607432] +synonym: "LIS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lissencephaly 1" RELATED [MONDO:Lexical] +synonym: "lissencephaly sequence, isolated" RELATED [] +synonym: "lissencephaly type 1" RELATED EXCLUDE [MONDORULE:1] +synonym: "lissencephaly, classic" RELATED [] +synonym: "PAFAH1B1-related lissencephaly" EXACT [DOID:0112237, Orphanet:95232] +synonym: "subcortical band heterotopia" RELATED [] +synonym: "subcortical laminar heterotopia" RELATED [] xref: DOID:0112237 {source="MONDO:equivalentTo"} xref: GARD:16838 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:95232", source="Orphanet:95232/attributed", source="Orphanet:95232/ntbt"} @@ -267831,10 +267878,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arrhythmogenic right ventricular cardiomyopathy 8" EXACT [DOID:0110076, OMIM:607450] synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP" EXACT [MONDO:design_pattern] -synonym: "arrhythmogenic right ventricular dysplasia 8" EXACT CLINGEN_LABEL [] -synonym: "arrhythmogenic right ventricular dysplasia type 8" EXACT [DOID:0110076, MONDORULE:1] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 8" RELATED [MONDO:Lexical, OMIM:607450] -synonym: "arrhythmogenic right ventricular dysplasia, familial, type 8" EXACT [MONDORULE:1, OMIM:607450] +synonym: "arrhythmogenic right ventricular dysplasia 8" EXACT CLINGEN_LABEL [DOID:0110076] +synonym: "arrhythmogenic right ventricular dysplasia type 8" EXACT [MONDORULE:1] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 8" RELATED [MONDO:Lexical] +synonym: "arrhythmogenic right ventricular dysplasia, familial, type 8" EXACT [MONDORULE:1] synonym: "ARVC8" EXACT ABBREVIATION [DOID:0110076] synonym: "ARVD8" EXACT ABBREVIATION [DOID:0110076, MONDO:Lexical, OMIM:607450] synonym: "DSP arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -267858,14 +267905,14 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18118", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 44" NARROW [DOID:0110569] -synonym: "autosomal dominant nonsyndromic deafness 44" NARROW [OMIM:607453] +synonym: "autosomal dominant deafness 44" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 44" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CCDC50" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 44" NARROW [DOID:0110569, MONDORULE:2] +synonym: "autosomal dominant nonsyndromic deafness type 44" NARROW [MONDORULE:2] synonym: "CCDC50 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal dominant 44" NARROW [MONDO:Lexical, OMIM:607453, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 44" NARROW [MONDORULE:2, OMIM:607453] -synonym: "DFNA44" NARROW ABBREVIATION [DOID:0110569, MONDO:Lexical, OMIM:607453] +synonym: "deafness, autosomal dominant 44" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 44" NARROW [MONDORULE:2] +synonym: "DFNA44" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110569 {source="MONDO:equivalentTo"} xref: GARD:18118 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110569"} @@ -267892,8 +267939,8 @@ subset: orphanet_rare {source="Orphanet:98773"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607454, Orphanet:98773] -synonym: "spinocerebellar ataxia 21" RELATED [MONDO:Lexical, OMIM:607454] -synonym: "spinocerebellar ataxia type 21" EXACT [MONDORULE:2, OMIM:607454] +synonym: "spinocerebellar ataxia 21" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 21" EXACT [DOID:0050972, icd11.foundation:1426889593, MONDORULE:2, Orphanet:98773] xref: DOID:0050972 {source="MONDO:equivalentTo"} xref: GARD:9999 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:98773", source="Orphanet:98773/attributed", source="Orphanet:98773/ntbt"} @@ -267919,9 +267966,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607458, Orphanet:98771] synonym: "sensorimotor neuropathy with ataxia autosomal dominant" RELATED [GARD:0009976] -synonym: "sensorimotor neuropathy with ataxia, autosomal dominant" RELATED [OMIM:607458] +synonym: "sensorimotor neuropathy with ataxia, autosomal dominant" RELATED [] synonym: "SMNA" RELATED ABBREVIATION [GARD:0009976] -synonym: "spinocerebellar ataxia 18" RELATED [MONDO:Lexical, OMIM:607458] +synonym: "spinocerebellar ataxia 18" RELATED [MONDO:Lexical] xref: DOID:0050969 {source="MONDO:equivalentTo"} xref: GARD:9976 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:98771/attributed", source="Orphanet:98771/ntbt", source="Orphanet:98771"} @@ -267944,21 +267991,21 @@ subset: ordo_disorder {source="Orphanet:70595", source="Orphanet:402082"} subset: orphanet_rare {source="Orphanet:70595", source="Orphanet:402082"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epilepsy, progressive myoclonic, 5" RELATED [MONDO:Lexical, OMIM:613832] -synonym: "epilepsy, progressive myoclonic, 5, formerly" RELATED [OMIM:607459] -synonym: "epilepsy, progressive myoclonic, type 5" EXACT [MONDORULE:1, OMIM:613832] -synonym: "epilepsy, progressive myoclonic, with sensory ataxic neuropathy" RELATED [OMIM:607459] -synonym: "EPM5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613832, Orphanet:402082] -synonym: "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)" EXACT [OMIM:607459, OMIM:genemap2] +synonym: "epilepsy, progressive myoclonic, 5" RELATED [MONDO:Lexical] +synonym: "epilepsy, progressive myoclonic, 5, formerly" RELATED [] +synonym: "epilepsy, progressive myoclonic, type 5" EXACT [MONDORULE:1] +synonym: "epilepsy, progressive myoclonic, with sensory ataxic neuropathy" RELATED [] +synonym: "EPM5" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:402082] +synonym: "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)" EXACT [] synonym: "PME type 5" EXACT [Orphanet:402082] synonym: "PRICKLE2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "progressive myoclonic epilepsy caused by mutation in PRICKLE2" EXACT [MONDO:design_pattern] synonym: "progressive myoclonus epilepsy type 5" EXACT [Orphanet:402082] -synonym: "SANDO" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607459, Orphanet:70595] -synonym: "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive" RELATED [OMIM:607459] -synonym: "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" EXACT [OMIM:607459] -synonym: "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" RELATED [Orphanet:70595] -synonym: "spinocerebellar ataxia with epilepsy" RELATED [OMIM:607459] +synonym: "SANDO" EXACT ABBREVIATION [DOID:0111276, MONDO:Lexical, OMIM:607459, Orphanet:70595] +synonym: "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive" RELATED [] +synonym: "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" EXACT [DOID:0111276, OMIM:607459] +synonym: "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" RELATED [] +synonym: "spinocerebellar ataxia with epilepsy" RELATED [] xref: DOID:0111276 {source="MONDO:equivalentTo"} xref: GARD:9998 {source="MONDO:GARD"} xref: ICD10CM:G40.3 {source="Orphanet:402082", source="Orphanet:402082/attributed", source="Orphanet:402082/ntbt"} @@ -267993,14 +268040,14 @@ synonym: "Hurthle cell carcinoma of thyroid" EXACT [NCIT:C4946] synonym: "Hurthle cell carcinoma of thyroid gland" EXACT [NCIT:C4946] synonym: "Hurthle cell thyroid cancer" RELATED [GARD:0009428] synonym: "Hurthle cell thyroid gland carcinoma" EXACT [NCIT:C4946] -synonym: "Hurthle cell thyroid neoplasia" RELATED [OMIM:607464] +synonym: "Hurthle cell thyroid neoplasia" RELATED [] synonym: "oncocytic carcinoma of the thyroid" EXACT [DOID:8161, NCIT:C4946] synonym: "oncocytic carcinoma of thyroid" EXACT [NCIT:C4946] synonym: "thyroid cancer, follicular, Hurthle cell type" RELATED [GARD:0009428] synonym: "thyroid cancer, Hurthle cell" RELATED [GARD:0009428] synonym: "thyroid carcinoma, Hurthle cell" EXACT [OMIM:607464] -synonym: "thyroid gland Hurthle cell carcinoma" EXACT [NCIT:C4946] -synonym: "thyroid gland oncocytic follicular carcinoma" EXACT [MONDO:0006465] +synonym: "thyroid gland Hurthle cell carcinoma" EXACT [DOID:8161, NCIT:C4946] +synonym: "thyroid gland oncocytic follicular carcinoma" EXACT [MONDO:0006465, NCIT:C4946] synonym: "thyroid Hurthle cell carcinoma" EXACT [NCIT:C4946] synonym: "thyroid oncocytic carcinoma" EXACT [NCIT:C4946] xref: DOID:8161 {source="MONDO:equivalentTo"} @@ -268031,7 +268078,7 @@ subset: rare synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1" EXACT [MONDO:design_pattern] synonym: "vitamin K-dependent clotting factors, combined deficiency of, 2" EXACT [MONDO:Lexical, MONDORULE:1, OMIM:607473] synonym: "vitamin K-dependent clotting factors, combined deficiency of, type 2" EXACT CLINGEN_LABEL [] -synonym: "VKCFD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607473] +synonym: "VKCFD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112174 {source="MONDO:equivalentTo"} xref: GARD:18196 {source="MONDO:GARD"} @@ -268055,9 +268102,9 @@ subset: ordo_disorder {source="Orphanet:85128"} subset: orphanet_rare {source="Orphanet:85128"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bothnia retinal dystrophy" EXACT [OMIM:607475] +synonym: "Bothnia retinal dystrophy" EXACT [DOID:0050683, icd11.foundation:2110390212, OMIM:607475, Orphanet:85128] synonym: "Vasterbotten dystrophy" EXACT [DOID:0050683, OMIM:607475] -synonym: "VC$sterbotten dystrophy" EXACT [Orphanet:85128] +synonym: "VC$sterbotten dystrophy" EXACT [] synonym: "Västerbotten dystrophy" EXACT [Orphanet:85128] xref: DOID:0050683 {source="MONDO:equivalentTo"} xref: GARD:16734 {source="MONDO:GARD"} @@ -268081,7 +268128,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cone-rod dystrophy caused by mutation in RLBP1" EXACT [MONDO:design_pattern] -synonym: "Newfoundland ROD-cone dystrophy" RELATED [MONDO:Lexical, OMIM:607476] +synonym: "Newfoundland ROD-cone dystrophy" RELATED [MONDO:Lexical] synonym: "NFRCD" EXACT ABBREVIATION [DOID:0111015, MONDO:Lexical, OMIM:607476] synonym: "RLBP1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111015 {source="MONDO:equivalentTo"} @@ -268102,11 +268149,11 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15413", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1M" RELATED [MONDO:Lexical, OMIM:607482] -synonym: "cardiomyopathy, dilated, type 1M" EXACT [MONDORULE:4, OMIM:607482] +synonym: "cardiomyopathy, dilated, 1M" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1M" EXACT [MONDORULE:4] synonym: "CMD1M" EXACT ABBREVIATION [DOID:0110449, MONDO:Lexical, OMIM:607482] synonym: "CSRP3 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "dilated cardiomyopathy type 1M" EXACT [DOID:0110449, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1M" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in CSRP3" EXACT [MONDO:design_pattern] xref: DOID:0110449 {source="MONDO:equivalentTo"} xref: GARD:15413 {source="MONDO:GARD"} @@ -268127,15 +268174,15 @@ subset: ordo_disorder {source="Orphanet:199348", source="Orphanet:65284"} subset: orphanet_rare {source="Orphanet:199348", source="Orphanet:65284"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "basal ganglia disease, biotin-responsive" RELATED [OMIM:607483] +synonym: "basal ganglia disease, biotin-responsive" RELATED [] synonym: "BBGD" EXACT ABBREVIATION [Orphanet:65284] synonym: "biotin-thiamine-responsive basal ganglia disease" EXACT [Orphanet:65284] -synonym: "BTBGD" EXACT ABBREVIATION [Orphanet:65284] -synonym: "encephalopathy, thiamine-responsive" RELATED [OMIM:607483] -synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)" EXACT [OMIM:607483, OMIM:genemap2] -synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" RELATED [MONDO:Lexical, OMIM:607483] -synonym: "thiamine-responsive encephalopathy" EXACT [MONDO:0016050] -synonym: "THMD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607483] +synonym: "BTBGD" EXACT ABBREVIATION [OMIM:607483, Orphanet:65284] +synonym: "encephalopathy, thiamine-responsive" RELATED [] +synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)" EXACT [] +synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" RELATED [MONDO:Lexical] +synonym: "thiamine-responsive encephalopathy" EXACT [MONDO:0016050, Orphanet:199348] +synonym: "THMD2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050659 {source="MONDO:equivalentTo"} xref: GARD:10237 {source="MONDO:GARD"} xref: ICD10CM:G25.8 {source="Orphanet:65284", source="Orphanet:65284/attributed", source="Orphanet:65284/ntbt"} @@ -268168,13 +268215,13 @@ def: "A frontotemporal dementia characterized by variable phenotypic expression subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aphasia, primary progressive" RELATED [OMIM:607485] -synonym: "dementia, hereditary dysphasic disinhibition" RELATED [OMIM:607485] -synonym: "frontotemporal dementia with TDP43 inclusions, GRN-related" RELATED [OMIM:607485] -synonym: "frontotemporal dementia, ubiquitin-positive" RELATED [OMIM:607485] -synonym: "frontotemporal lobar degeneration with TDP43 inclusions, GRN-related" RELATED [OMIM:607485] -synonym: "frontotemporal lobar degeneration with ubiquitin-positive inclusions" RELATED [OMIM:607485] -synonym: "FTLD-TDP, GRN-related" RELATED [OMIM:607485] +synonym: "aphasia, primary progressive" RELATED [] +synonym: "dementia, hereditary dysphasic disinhibition" RELATED [] +synonym: "frontotemporal dementia with TDP43 inclusions, GRN-related" RELATED [] +synonym: "frontotemporal dementia, ubiquitin-positive" RELATED [] +synonym: "frontotemporal lobar degeneration with TDP43 inclusions, GRN-related" RELATED [] +synonym: "frontotemporal lobar degeneration with ubiquitin-positive inclusions" RELATED [] +synonym: "FTLD-TDP, GRN-related" RELATED [] xref: DOID:0060672 {source="MONDO:equivalentTo"} xref: ICD10CM:G31.0 {source="DOID:0060672"} xref: MEDGEN:375285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -268194,12 +268241,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy familial hypertrophic 25" EXACT [DOID:0110328] -synonym: "cardiomyopathy, familial hypertrophic, 25" RELATED [MONDO:Lexical, OMIM:607487] -synonym: "cardiomyopathy, familial hypertrophic, type 25" EXACT [MONDORULE:2, OMIM:607487] -synonym: "cardiomyopathy, hypertrophic, 25" EXACT [OMIM:607487, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 25" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 25" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, hypertrophic, 25" EXACT [] synonym: "CMH25" EXACT ABBREVIATION [DOID:0110328, MONDO:Lexical, OMIM:607487] synonym: "hypertrophic cardiomyopathy caused by mutation in TCAP" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 25" EXACT [DOID:0110328, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 25" EXACT [MONDORULE:2] synonym: "TCAP hypertrophic cardiomyopathy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Tcap hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110328 {source="MONDO:equivalentTo"} @@ -268224,10 +268271,10 @@ def: "A myoclonic dystonia characterized by autosomal dominant inheritance that subset: gard_rare {source="GARD:9629", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "dystonia 15, myoclonic" RELATED [MONDO:Lexical, OMIM:607488] -synonym: "dystonia-15, myoclonic" EXACT [OMIM:607488, OMIM:genemap2] -synonym: "DYT15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607488] -synonym: "myoclonic dystonia type 15" EXACT [DOID:0090035, MONDORULE:2] +synonym: "dystonia 15, myoclonic" RELATED [MONDO:Lexical] +synonym: "dystonia-15, myoclonic" EXACT [] +synonym: "DYT15" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myoclonic dystonia type 15" EXACT [MONDORULE:2] xref: DOID:0090035 {source="MONDO:equivalentTo"} xref: GARD:9629 {source="MONDO:GARD"} xref: MEDGEN:334492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -268244,9 +268291,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011845 name: migraine with or without aura, susceptibility to, 3 subset: predisposition -synonym: "MGR3" RELATED ABBREVIATION [OMIM:607498] +synonym: "MGR3" RELATED ABBREVIATION [] synonym: "migraine with or without aura, susceptibility to, 3" EXACT [OMIM:607498] -synonym: "migraine with or without aura, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:607498] +synonym: "migraine with or without aura, susceptibility to, type 3" EXACT [MONDORULE:1] xref: MEDGEN:375283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607498 {source="MONDO:equivalentTo"} xref: UMLS:C1843782 {source="MEDGEN:375283", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -268256,16 +268303,16 @@ is_a: MONDO:0100246 {source="DC-OMIM:607498", source="OMIM:607498", source="OMIM id: MONDO:0011846 name: bulimia nervosa, susceptibility to, 1 subset: predisposition -synonym: "anorexia nervosa, susceptibility to, 2" RELATED [OMIM:610269] -synonym: "BN" RELATED ABBREVIATION [OMIM:607499] -synonym: "bulimia nervosa, susceptibility to" BROAD [OMIM:607499, OMIM:genemap2] -synonym: "bulimia nervosa, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607499] -synonym: "bulimia nervosa, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:610269] -synonym: "bulimia nervosa, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:610269] -synonym: "BULN" RELATED ABBREVIATION [OMIM:607499] -synonym: "BULN1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607499] -synonym: "BULN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610269] -synonym: "susceptibility to bulimia nervosa 2" EXACT [OMIM:610269] +synonym: "anorexia nervosa, susceptibility to, 2" RELATED [] +synonym: "BN" RELATED ABBREVIATION [] +synonym: "bulimia nervosa, susceptibility to" BROAD [] +synonym: "bulimia nervosa, susceptibility to, 1" EXACT [MONDO:Lexical] +synonym: "bulimia nervosa, susceptibility to, 2" EXACT [MONDO:Lexical] +synonym: "bulimia nervosa, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "BULN" RELATED ABBREVIATION [] +synonym: "BULN1" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "BULN2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to bulimia nervosa 2" EXACT [] xref: MEDGEN:334832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607499 {source="MONDO:equivalentTo"} xref: UMLS:C1843776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334832"} @@ -268282,11 +268329,11 @@ id: MONDO:0011847 name: migraine without aura, susceptibility to, 4 def: "An inherited susceptibility or predisposition to developing migraines without aura." [MONDO:patterns/inherited_susceptibility] subset: predisposition -synonym: "common migraine" RELATED [DOID:12783] -synonym: "MGOA" RELATED ABBREVIATION [OMIM:607501] +synonym: "common migraine" RELATED [] +synonym: "MGOA" RELATED ABBREVIATION [] synonym: "MGR4" EXACT ABBREVIATION [OMIM:607501] synonym: "migraine without aura, susceptibility to, 4" EXACT [OMIM:607501] -synonym: "migraine without aura, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:607501] +synonym: "migraine without aura, susceptibility to, type 4" EXACT [MONDORULE:1] xref: DOID:12783 {source="MONDO:relatedTo", source="EFO:0005296"} xref: HP:0002083 {source="MONDO:otherHierarchy", source="EFO:0005296"} xref: ICD10CM:G43.0 {source="DOID:12783"} @@ -268307,9 +268354,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011848 name: headache associated with sexual activity -synonym: "benign sexual headache" RELATED [OMIM:607504] -synonym: "headache associated with sexual activity" EXACT [MONDO:Lexical, OMIM:607504] -synonym: "HSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607504] +synonym: "benign sexual headache" RELATED [] +synonym: "headache associated with sexual activity" EXACT [ICD10CM:G44.82, MONDO:Lexical, OMIM:607504] +synonym: "HSA" RELATED ABBREVIATION [MONDO:Lexical] xref: ICD10CM:G44.82 {source="MONDO:equivalentTo"} xref: MEDGEN:95989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607504 {source="MONDO:equivalentTo"} @@ -268322,12 +268369,12 @@ name: psoriatic arthritis def: "Joint inflammation associated with psoriasis." [NCIT:P378] subset: otar {source="MONDO:OTAR"} subset: predisposition -synonym: "arthritis psoriatica" EXACT [DOID:9008] +synonym: "arthritis psoriatica" EXACT [DOID:9008, NCIT:C61277] synonym: "arthropathic psoriasis" EXACT [DOID:9008] -synonym: "psoriatic arthritis, susceptibility to" RELATED [OMIM:607507] -synonym: "psoriatic arthritis, susceptibility to, 1" RELATED [OMIM:607507] +synonym: "psoriatic arthritis, susceptibility to" RELATED [] +synonym: "psoriatic arthritis, susceptibility to, 1" RELATED [] synonym: "psoriatic arthropathy" RELATED [DOID:9008] -synonym: "susceptibility to psoriatic arthritis" RELATED [OMIM:607507] +synonym: "susceptibility to psoriatic arthritis" RELATED [] xref: DOID:9008 {source="MONDO:equivalentTo", source="EFO:0003778"} xref: EFO:0003778 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:L40.5 {source="DOID:9008"} @@ -268356,9 +268403,9 @@ relationship: excluded_subClassOf MONDO:0020573 {source="OMIM:607507", source="h id: MONDO:0011850 name: migraine with or without aura, susceptibility to, 5 subset: predisposition -synonym: "Mgr5" RELATED [OMIM:607508] +synonym: "Mgr5" RELATED [] synonym: "migraine with or without aura, susceptibility to, 5" EXACT [OMIM:607508] -synonym: "migraine with or without aura, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:607508] +synonym: "migraine with or without aura, susceptibility to, type 5" EXACT [MONDORULE:1] xref: MEDGEN:334831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607508 {source="MONDO:equivalentTo"} xref: UMLS:C1843771 {source="MEDGEN:334831", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -268368,10 +268415,10 @@ is_a: MONDO:0100246 {source="DC-OMIM:607508", source="OMIM:607508", source="OMIM id: MONDO:0011851 name: migraine with or without aura, susceptibility to, 6 subset: predisposition -synonym: "MGR6" RELATED ABBREVIATION [OMIM:607516] +synonym: "MGR6" RELATED ABBREVIATION [] synonym: "migraine with or without aura, susceptibility to, 6" EXACT [OMIM:607516] -synonym: "migraine with or without aura, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:607516] -synonym: "migraine, familial hemiplegic, 4" RELATED [OMIM:607516] +synonym: "migraine with or without aura, susceptibility to, type 6" EXACT [MONDORULE:1] +synonym: "migraine, familial hemiplegic, 4" RELATED [] xref: MEDGEN:334829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564385 {source="MONDO:equivalentTo"} xref: OMIM:607516 {source="MONDO:equivalentTo"} @@ -268388,11 +268435,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "COL7A1 inherited isolated nail anomaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "inherited isolated nail anomaly caused by mutation in COL7A1" EXACT [MONDO:design_pattern] -synonym: "nail disorder, nonsyndromic congenital, 8" RELATED [MONDO:Lexical, OMIM:607523] -synonym: "nail disorder, nonsyndromic congenital, type 8" EXACT [MONDORULE:1, OMIM:607523] -synonym: "NDNC8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607523] -synonym: "nonsyndromic congenital nail disorder type 8" EXACT [DOID:0080086, MONDORULE:1] -synonym: "toenail dystrophy, isolated" RELATED [OMIM:607523] +synonym: "nail disorder, nonsyndromic congenital, 8" RELATED [MONDO:Lexical] +synonym: "nail disorder, nonsyndromic congenital, type 8" EXACT [MONDORULE:1] +synonym: "NDNC8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nonsyndromic congenital nail disorder type 8" EXACT [MONDORULE:1] +synonym: "toenail dystrophy, isolated" RELATED [] xref: DOID:0080086 {source="MONDO:equivalentTo"} xref: MEDGEN:375277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564384 {source="MONDO:equivalentTo"} @@ -268409,9 +268456,9 @@ id: MONDO:0011853 name: Camptosynpolydactyly, complex subset: otar {source="MONDO:OTAR"} synonym: "camptopolydactyly, disorganisation type" RELATED OMO:0003005 [] -synonym: "camptopolydactyly, disorganization type" RELATED [OMIM:607539] +synonym: "camptopolydactyly, disorganization type" RELATED [] synonym: "camptosynpolydactyly, complex" EXACT [OMIM:607539] -synonym: "CCSPD" RELATED ABBREVIATION [OMIM:607539] +synonym: "CCSPD" RELATED ABBREVIATION [] xref: MEDGEN:375276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564383 {source="MONDO:equivalentTo"} xref: OMIM:607539 {source="MONDO:equivalentTo"} @@ -268439,20 +268486,20 @@ subset: ordo_disorder {source="Orphanet:98963"} subset: orphanet_rare {source="Orphanet:98963"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACD" RELATED ABBREVIATION [OMIM:607541] -synonym: "Avellino corneal dystrophy" EXACT [OMIM:607541, Orphanet:98963] -synonym: "avellino corneal dystrophy" EXACT [DOID:0060444] -synonym: "CDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607541] +synonym: "ACD" RELATED ABBREVIATION [] +synonym: "Avellino corneal dystrophy" EXACT [DOID:0060444, OMIM:607541, Orphanet:98963] +synonym: "avellino corneal dystrophy" EXACT [DOID:0060444, OMIM:607541, Orphanet:98963] +synonym: "CDA" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CGD2" EXACT ABBREVIATION [DOID:0060444] synonym: "combined granular-lattice corneal dystrophies" RELATED [GARD:0009278] synonym: "combined granular-lattice corneal dystrophy" EXACT [DOID:0060444, OMIM:607541] synonym: "corneal dystrophy Avellino type" RELATED [GARD:0009278] -synonym: "corneal dystrophy, AVELLINO type" RELATED [MONDO:Lexical, OMIM:607541] +synonym: "corneal dystrophy, AVELLINO type" RELATED [MONDO:Lexical] synonym: "GCD2" EXACT ABBREVIATION [Orphanet:98963] synonym: "GCDII" EXACT ABBREVIATION [Orphanet:98963] synonym: "granular and lattice corneal dystrophies" RELATED [GARD:0009278] synonym: "granular corneal dystrophy type 2" EXACT [DOID:0060444, Orphanet:98963] -synonym: "granular corneal dystrophy, type 2" RELATED [OMIM:607541] +synonym: "granular corneal dystrophy, type 2" RELATED [] synonym: "granular-lattice (Avellino) corneal dystrophy" RELATED [GARD:0009278] synonym: "granular-lattice corneal dystrophy" EXACT [Orphanet:98963] xref: DOID:0060444 {source="MONDO:equivalentTo"} @@ -268476,9 +268523,9 @@ subset: gard_rare {source="GARD:8719", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:168552"} subset: orphanet_rare {source="Orphanet:168552"} subset: rare -synonym: "SmD with bowed forearms and Facial Dysmorphism" RELATED [OMIM:607543] +synonym: "SmD with bowed forearms and Facial Dysmorphism" RELATED [] synonym: "SmD with with bowed forearms and facial dysmorphism" RELATED [GARD:0008719] -synonym: "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism" RELATED [OMIM:607543] +synonym: "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism" RELATED [] xref: DOID:0112305 {source="MONDO:equivalentTo"} xref: GARD:8719 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:168552", source="Orphanet:168552/attributed", source="Orphanet:168552/ntbt"} @@ -268496,9 +268543,9 @@ def: "Any familial atrial fibrillation in which the cause of the disease is a mu subset: gard_rare {source="GARD:15414", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ATFB3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607554] +synonym: "ATFB3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrial fibrillation, familial, 3" EXACT [MONDO:Lexical, OMIM:607554] -synonym: "atrial fibrillation, familial, type 3" EXACT [MONDORULE:1, OMIM:607554] +synonym: "atrial fibrillation, familial, type 3" EXACT [MONDORULE:1] synonym: "familial atrial fibrillation caused by mutation in KCNQ1" EXACT [MONDO:design_pattern] synonym: "KCNQ1 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15414 {source="MONDO:GARD"} @@ -268515,8 +268562,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011858 name: spastic paraplegia, ataxia, and intellectual disability -synonym: "Spar" RELATED [OMIM:607565] -synonym: "spastic paraplegia, ataxia, and intellectual disability" EXACT [OMIM:607565] +synonym: "Spar" RELATED [] +synonym: "spastic paraplegia, ataxia, and intellectual disability" EXACT [] synonym: "spastic paraplegia, ataxia, and mental retardation" EXACT DEPRECATED [OMIM:607565] xref: MEDGEN:336010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564378 {source="MONDO:equivalentTo"} @@ -268550,7 +268597,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011861 name: breath-holding Spells -synonym: "Bhs" RELATED [OMIM:607578] +synonym: "Bhs" RELATED [] synonym: "breath-holding Spells" EXACT [OMIM:607578] xref: MEDGEN:105400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607578 {source="MONDO:equivalentTo"} @@ -268567,10 +268614,10 @@ subset: orphanet_rare {source="Orphanet:101004"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 24" EXACT [DOID:0110775] -synonym: "autosomal recessive spastic paraplegia type 24" EXACT [DOID:0110775] -synonym: "hereditary spastic paraplegia type 24" EXACT [DOID:0110775, MONDORULE:2] +synonym: "autosomal recessive spastic paraplegia type 24" EXACT [DOID:0110775, Orphanet:101004] +synonym: "hereditary spastic paraplegia type 24" EXACT [MONDORULE:2] synonym: "spastic paraplegia 24" RELATED [GARD:0009296] -synonym: "spastic paraplegia 24, autosomal recessive" RELATED [MONDO:Lexical, OMIM:607584] +synonym: "spastic paraplegia 24, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG24" EXACT ABBREVIATION [DOID:0110775, MONDO:Lexical, OMIM:607584, Orphanet:101004] xref: DOID:0110775 {source="MONDO:equivalentTo"} xref: GARD:9296 {source="MONDO:GARD"} @@ -268587,10 +268634,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011863 name: prostate cancer aggressiveness quantitative trait locus on chromosome 19 -synonym: "HPCqtl19" RELATED [OMIM:607592] -synonym: "prostate cancer aggressiveness QTL" EXACT [OMIM:607592, OMIM:genemap2] +synonym: "HPCqtl19" RELATED [] +synonym: "prostate cancer aggressiveness QTL" EXACT [] synonym: "prostate cancer aggressiveness quantitative trait locus on chromosome 19" EXACT [OMIM:607592] -synonym: "prostate cancer aggressiveness quantitative trait locus on chromosome type 19" EXACT [MONDORULE:2, OMIM:607592] +synonym: "prostate cancer aggressiveness quantitative trait locus on chromosome type 19" EXACT [MONDORULE:2] xref: MEDGEN:334432 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607592 {source="MONDO:equivalentTo"} xref: UMLS:C1843533 {source="MEDGEN:334432", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -268604,11 +268651,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "antibody deficiency due to Icos defect" RELATED [OMIM:607594] -synonym: "CVID1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607594] -synonym: "immunodeficiency, common variable" RELATED [OMIM:607594] +synonym: "antibody deficiency due to Icos defect" RELATED [] +synonym: "CVID1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency, common variable" RELATED [] synonym: "immunodeficiency, common variable, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607594] -synonym: "immunodeficiency, common variable, type 1" EXACT [MONDORULE:1, OMIM:607594] +synonym: "immunodeficiency, common variable, type 1" EXACT [MONDORULE:1] xref: DOID:0081144 {source="MONDO:equivalentTo"} xref: MEDGEN:460728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607594 {source="MONDO:equivalentTo"} @@ -268633,11 +268680,11 @@ subset: gard_rare {source="GARD:15416", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1" EXACT [MONDO:design_pattern] -synonym: "Pch1" RELATED [OMIM:607596] -synonym: "PCH1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607596] -synonym: "pontocerebellar hypoplasia with anterior horn cell disease" RELATED [OMIM:607596] -synonym: "pontocerebellar hypoplasia with infantile spinal muscular atrophy" RELATED [OMIM:607596] -synonym: "pontocerebellar hypoplasia, type 1A" RELATED [MONDO:Lexical, OMIM:607596] +synonym: "Pch1" RELATED [] +synonym: "PCH1A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pontocerebellar hypoplasia with anterior horn cell disease" RELATED [] +synonym: "pontocerebellar hypoplasia with infantile spinal muscular atrophy" RELATED [] +synonym: "pontocerebellar hypoplasia, type 1A" RELATED [MONDO:Lexical] synonym: "VRK1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060265 {source="MONDO:equivalentTo"} xref: GARD:15416 {source="MONDO:GARD"} @@ -268674,12 +268721,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ERBB3 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCCS2" EXACT ABBREVIATION [DOID:0060560, MONDO:Lexical, OMIM:607598, Orphanet:137776] -synonym: "lethal congenital contractural syndrome 2" EXACT [OMIM:607598, OMIM:genemap2] -synonym: "lethal congenital contracture syndrome 2" EXACT [MONDO:Lexical, OMIM:607598] +synonym: "lethal congenital contractural syndrome 2" EXACT [] +synonym: "lethal congenital contracture syndrome 2" EXACT [DOID:0060560, MONDO:Lexical, OMIM:607598] synonym: "lethal congenital contracture syndrome caused by mutation in ERBB3" EXACT [MONDO:design_pattern] -synonym: "lethal congenital contracture syndrome type 2" EXACT [DOID:0060560, MONDORULE:1, OMIM:607598] +synonym: "lethal congenital contracture syndrome type 2" EXACT [MONDORULE:1, Orphanet:137776] synonym: "multiple contracture syndrome, Israeli Bedouin type" RELATED [GARD:0009177] -synonym: "multiple contracture syndrome, Israeli Bedouin type a" RELATED [OMIM:607598] +synonym: "multiple contracture syndrome, Israeli Bedouin type a" RELATED [] synonym: "multiple contracture syndrome, Israeli-Bedouin type" EXACT [DOID:0060560, Orphanet:137776] xref: DOID:0060560 {source="MONDO:equivalentTo"} xref: GARD:9177 {source="MONDO:GARD"} @@ -268707,8 +268754,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EBSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607600, Orphanet:89839] -synonym: "epidermolysis bullosa simplex superficialis" EXACT [MONDO:Lexical, OMIM:607600] +synonym: "EBSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607600] +synonym: "epidermolysis bullosa simplex superficialis" EXACT [icd11.foundation:1738578678, MONDO:Lexical, OMIM:607600] xref: ICD10CM:Q81.0 {source="Orphanet:89839", source="Orphanet:89839/attributed", source="Orphanet:89839/ntbt"} xref: icd11.foundation:1738578678 {source="MONDO:equivalentTo"} xref: MEDGEN:334412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -268729,10 +268776,10 @@ subset: orphanet_rare {source="Orphanet:281139"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AEI" EXACT ABBREVIATION [Orphanet:281139] -synonym: "Ciehk" RELATED [OMIM:607602] -synonym: "epidermolytic ichthyosis, annular" RELATED [OMIM:607602] +synonym: "Ciehk" RELATED [] +synonym: "epidermolytic ichthyosis, annular" RELATED [] synonym: "ichthyosis, annular epidermolytic" EXACT [OMIMPS:607602] -synonym: "ichthyosis, cyclic, with epidermolytic hyperkeratosis" RELATED [OMIM:607602] +synonym: "ichthyosis, cyclic, with epidermolytic hyperkeratosis" RELATED [] xref: GARD:17304 {source="MONDO:GARD"} xref: ICD10CM:Q80.3 {source="Orphanet:281139/attributed", source="Orphanet:281139/ntbt", source="Orphanet:281139"} xref: icd11.foundation:280058464 {source="MONDO:equivalentTo"} @@ -268759,10 +268806,10 @@ subset: orphanet_rare {source="Orphanet:77293"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Niemann Pick disease type B" RELATED [GARD:0010729] -synonym: "Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression" RELATED [OMIM:607616] -synonym: "Niemann-PICK disease, type B" RELATED [OMIM:607616] -synonym: "Niemann-Pick disease, type E" RELATED [OMIM:607616] -synonym: "Niemann-Pick disease, type F" RELATED [OMIM:607616] +synonym: "Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression" RELATED [] +synonym: "Niemann-PICK disease, type B" RELATED [] +synonym: "Niemann-Pick disease, type E" RELATED [] +synonym: "Niemann-Pick disease, type F" RELATED [] synonym: "type B Niemann-Pick disease" EXACT [NCIT:C126866] xref: DOID:0070112 {source="MONDO:equivalentTo"} xref: GARD:10729 {source="MONDO:GARD"} @@ -268797,18 +268844,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79477"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Griscelli disease type 2" RELATED [Orphanet:79477] -synonym: "Griscelli syndrome type 2" EXACT CLINGEN_LABEL [] -synonym: "Griscelli syndrome with hemophagocytic syndrome" EXACT [DOID:0060833] -synonym: "Griscelli syndrome, type 2" RELATED [MONDO:Lexical, OMIM:607624] -synonym: "Griscelli-PruniC)ras syndrome type 2" EXACT [Orphanet:79477] -synonym: "Griscelli-Pruniéras syndrome type 2" EXACT [DOID:0060833] -synonym: "Griscelli-Pruni��ras syndrome type 2" EXACT [DOID:0060833] -synonym: "GS2" EXACT ABBREVIATION [DOID:0060833, MONDO:Lexical, OMIM:607624] +synonym: "Griscelli disease type 2" RELATED [] +synonym: "Griscelli syndrome type 2" EXACT CLINGEN_LABEL [DOID:0060833, icd11.foundation:1836541365, NCIT:C111814, Orphanet:79477] +synonym: "Griscelli syndrome with hemophagocytic syndrome" EXACT [DOID:0060833, OMIM:607624] +synonym: "Griscelli syndrome, type 2" RELATED [MONDO:Lexical] +synonym: "Griscelli-PruniC)ras syndrome type 2" EXACT [] +synonym: "Griscelli-Pruniéras syndrome type 2" EXACT [Orphanet:79477] +synonym: "Griscelli-Pruni��ras syndrome type 2" EXACT [] +synonym: "GS2" EXACT ABBREVIATION [DOID:0060833, icd11.foundation:1836541365, MONDO:Lexical, NCIT:C111814, OMIM:607624] synonym: "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" EXACT [DOID:0060833, Orphanet:79477] -synonym: "PAID syndrome" EXACT [DOID:0060833] -synonym: "Paid syndrome" RELATED [OMIM:607624] -synonym: "partial albinism and immunodeficiency syndrome" EXACT [DOID:0060833, OMIM:607624] +synonym: "PAID syndrome" EXACT [DOID:0060833, NCIT:C111814, OMIM:607624] +synonym: "Paid syndrome" RELATED [] +synonym: "partial albinism and immunodeficiency syndrome" EXACT [DOID:0060833, icd11.foundation:1836541365, NCIT:C111814, OMIM:607624] xref: DOID:0060833 {source="MONDO:equivalentTo"} xref: GARD:4483 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79477/attributed", source="Orphanet:79477/ntbt", source="DOID:0060833", source="Orphanet:79477"} @@ -268841,8 +268888,8 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:3992", source="MONDO:GARD"} subset: rare synonym: "Niemann-Pick disease type C2" RELATED [GARD:0003992] -synonym: "Niemann-PICK disease, type C2" RELATED [OMIM:607625] -synonym: "Niemann-Pick disease, type C2" EXACT [MONDO:Lexical, OMIM:607625] +synonym: "Niemann-PICK disease, type C2" RELATED [] +synonym: "Niemann-Pick disease, type C2" EXACT [MONDO:Lexical, NCIT:C126865, OMIM:607625] synonym: "NPC2" EXACT ABBREVIATION [DOID:0070114, MONDO:Lexical, OMIM:607625] synonym: "type C2 Niemann-Pick disease" EXACT [NCIT:C126865] xref: DOID:0070114 {source="MONDO:equivalentTo"} @@ -268871,15 +268918,15 @@ subset: ordo_disorder {source="Orphanet:59303"} subset: orphanet_rare {source="Orphanet:59303"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis" RELATED [OMIM:607626] +synonym: "ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis" RELATED [] synonym: "ichthyosis-hypotrichosis-sclerosing cholangitis syndrome" EXACT [Orphanet:59303] -synonym: "ichthyosis-sclerosing cholangitis syndrome" RELATED [OMIM:607626] +synonym: "ichthyosis-sclerosing cholangitis syndrome" RELATED [] synonym: "IHSC" EXACT ABBREVIATION [Orphanet:59303] -synonym: "ILVASC" RELATED ABBREVIATION [OMIM:607626] -synonym: "Ilvasc" RELATED [OMIM:607626] -synonym: "neonatal ichthyosis-sclerosing cholangitis syndrome" EXACT [OMIM:607626] -synonym: "NISCH syndrome" EXACT [Orphanet:59303] -synonym: "Nisch syndrome" RELATED [OMIM:607626] +synonym: "ILVASC" RELATED ABBREVIATION [] +synonym: "Ilvasc" RELATED [] +synonym: "neonatal ichthyosis-sclerosing cholangitis syndrome" EXACT [OMIM:607626, Orphanet:59303] +synonym: "NISCH syndrome" EXACT [OMIM:607626, Orphanet:59303] +synonym: "Nisch syndrome" RELATED [] xref: GARD:10583 {source="MONDO:GARD"} xref: MEDGEN:334382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564365 {source="MONDO:equivalentTo"} @@ -268903,15 +268950,15 @@ def: "An inherited susceptibility or predisposition to developing epilepsy, idio subset: predisposition synonym: "CLCN2 generalised epilepsy" EXACT OMO:0003005 [] synonym: "CLCN2 generalized epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "EIG11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607628] +synonym: "EIG11" EXACT ABBREVIATION [DOID:0111312, MONDO:Lexical, OMIM:607628] synonym: "epilepsy, idiopathic generalized, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:607628] -synonym: "epilepsy, idiopathic generalized, susceptibility to, type 11" EXACT [MONDORULE:2, OMIM:607628] -synonym: "epilepsy, juvenile absence, susceptibility to, 2" RELATED [OMIM:607628] -synonym: "epilepsy, juvenile myoclonic, susceptibility to, 8" RELATED [OMIM:607628] +synonym: "epilepsy, idiopathic generalized, susceptibility to, type 11" EXACT [MONDORULE:2] +synonym: "epilepsy, juvenile absence, susceptibility to, 2" RELATED [] +synonym: "epilepsy, juvenile myoclonic, susceptibility to, 8" RELATED [] synonym: "generalised epilepsy caused by mutation in CLCN2" EXACT OMO:0003005 [] synonym: "generalized epilepsy caused by mutation in CLCN2" EXACT [MONDO:design_pattern] synonym: "susceptibility to idiopathic generalised epilepsy 11" RELATED OMO:0003005 [] -synonym: "susceptibility to idiopathic generalized epilepsy 11" RELATED [OMIM:607628] +synonym: "susceptibility to idiopathic generalized epilepsy 11" RELATED [] xref: DOID:0111312 {source="MONDO:equivalentTo"} xref: MEDGEN:416407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607628 {source="MONDO:equivalentTo"} @@ -268949,14 +268996,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:2783"} subset: orphanet_rare {source="Orphanet:2783"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant osteopetrosis type 1" EXACT [DOID:0110937, MONDORULE:1] +synonym: "autosomal dominant osteopetrosis type 1" EXACT [DOID:0110937, MONDORULE:1, Orphanet:2783] synonym: "LRP5 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "OPTA1" EXACT ABBREVIATION [DOID:0110937, MONDO:Lexical, OMIM:607634] synonym: "osteopetrosis (disease) caused by mutation in LRP5" EXACT [] synonym: "osteopetrosis autosomal dominant type 1" RELATED [GARD:0004151] -synonym: "osteopetrosis, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:607634] -synonym: "osteopetrosis, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:607634] -synonym: "osteopetrosis, autosomal dominant, type 1" RELATED [OMIM:607634] +synonym: "osteopetrosis, autosomal dominant 1" RELATED [MONDO:Lexical] +synonym: "osteopetrosis, autosomal dominant type 1" EXACT [MONDORULE:1] +synonym: "osteopetrosis, autosomal dominant, type 1" RELATED [] xref: DOID:0110937 {source="MONDO:equivalentTo"} xref: GARD:4151 {source="MONDO:GARD"} xref: ICD10CM:Q78.2 {source="Orphanet:2783/ntbt", source="Orphanet:2783", source="DOID:0110937", source="Orphanet:2783/inclusion"} @@ -268988,14 +269035,14 @@ subset: gard_rare {source="GARD:18270", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DCTN1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Dhmn7B" RELATED [OMIM:607641] -synonym: "HMN 7B" RELATED [OMIM:607641] -synonym: "HMN7B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607641] -synonym: "Lower motor neuron disease, dynactin type" RELATED [OMIM:607641] +synonym: "Dhmn7B" RELATED [] +synonym: "HMN 7B" RELATED [] +synonym: "HMN7B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Lower motor neuron disease, dynactin type" RELATED [] synonym: "neuronopathy, distal hereditary motor caused by mutation in DCTN1" EXACT [MONDO:design_pattern] -synonym: "neuronopathy, distal hereditary motor, type VIIB" RELATED [MONDO:Lexical, OMIM:607641] -synonym: "neuropathy, distal hereditary motor, type 7B" RELATED [OMIM:607641] -synonym: "neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B" RELATED [OMIM:607641] +synonym: "neuronopathy, distal hereditary motor, type VIIB" RELATED [MONDO:Lexical] +synonym: "neuropathy, distal hereditary motor, type 7B" RELATED [] +synonym: "neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B" RELATED [] xref: DOID:0111202 {source="MONDO:equivalentTo"} xref: GARD:18270 {source="MONDO:GARD"} xref: MEDGEN:375157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -269016,9 +269063,9 @@ subset: gard_rare {source="GARD:15418", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CANDF3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607644] -synonym: "candidiasis, familial chronic nail, with Icam1 deficiency" RELATED [OMIM:607644] +synonym: "candidiasis, familial chronic nail, with Icam1 deficiency" RELATED [] synonym: "candidiasis, familial, 3" EXACT [MONDO:Lexical, OMIM:607644] -synonym: "Fcnc" RELATED [OMIM:607644] +synonym: "Fcnc" RELATED [] xref: GARD:15418 {source="MONDO:GARD"} xref: MEDGEN:335927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564361 {source="MONDO:equivalentTo"} @@ -269034,12 +269081,12 @@ subset: gard_rare {source="GARD:9173", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "keratoderma palmoplantar striate form 3" RELATED [GARD:0009173] -synonym: "keratoderma, palmoplantar, striate form 3" RELATED [OMIM:607654] -synonym: "keratosis palmoplantaris striata III" RELATED [MONDO:Lexical, OMIM:607654] -synonym: "keratosis palmoplantaris striata type 3" EXACT [MONDORULE:1, OMIM:607654] +synonym: "keratoderma, palmoplantar, striate form 3" RELATED [] +synonym: "keratosis palmoplantaris striata III" RELATED [MONDO:Lexical] +synonym: "keratosis palmoplantaris striata type 3" EXACT [MONDORULE:1] synonym: "KRT1 striate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PPKS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607654] -synonym: "striate palmoplantar keratoderma 3" RELATED [OMIM:607654] +synonym: "PPKS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "striate palmoplantar keratoderma 3" RELATED [] synonym: "striate palmoplantar keratoderma caused by mutation in KRT1" EXACT [MONDO:design_pattern] xref: DOID:0081110 {source="MONDO:equivalentTo"} xref: GARD:9173 {source="MONDO:GARD"} @@ -269063,10 +269110,10 @@ subset: ordo_disorder {source="Orphanet:293165"} subset: orphanet_rare {source="Orphanet:293165"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SFWHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607655] +synonym: "SFWHS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "skin fragility woolly hair syndrome" RELATED OMO:0003005 [] synonym: "skin fragility wooly hair syndrome" RELATED [GARD:0005231] -synonym: "skin fragility-woolly hair syndrome" RELATED [MONDO:Lexical, OMIM:607655] +synonym: "skin fragility-woolly hair syndrome" RELATED [MONDO:Lexical] synonym: "skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:293165] xref: GARD:5231 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:293165", source="Orphanet:293165/attributed", source="Orphanet:293165/ntbt"} @@ -269092,9 +269139,9 @@ subset: orphanet_rare {source="Orphanet:307766"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Chac syndrome" EXACT [Orphanet:307766] -synonym: "CHACS" EXACT ABBREVIATION [Orphanet:307766] -synonym: "Chacs" RELATED [OMIM:607656] -synonym: "Curly hair - acral keratoderma - caries syndrome" EXACT [OMIM:607656] +synonym: "CHACS" EXACT ABBREVIATION [OMIM:607656, Orphanet:307766] +synonym: "Chacs" RELATED [] +synonym: "Curly hair - acral keratoderma - caries syndrome" EXACT [] xref: GARD:10163 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:307766/attributed", source="Orphanet:307766/ntbt", source="Orphanet:307766"} xref: MEDGEN:335923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -269115,10 +269162,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:307936"} subset: orphanet_rare {source="Orphanet:307936"} subset: rare -synonym: "HOPP syndrome" EXACT [Orphanet:307936] -synonym: "Hopp syndrome" RELATED [OMIM:607658] +synonym: "HOPP syndrome" EXACT [OMIM:607658, Orphanet:307936] +synonym: "Hopp syndrome" RELATED [] synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:307936] -synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" EXACT [OMIM:607658] +synonym: "hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome" EXACT [OMIM:607658, Orphanet:307936] synonym: "hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936] synonym: "hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome" EXACT [Orphanet:307936] xref: GARD:17384 {source="MONDO:GARD"} @@ -269141,13 +269188,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:91500"} subset: orphanet_rare {source="Orphanet:91500"} subset: rare -synonym: "acute Tubulointerstitial nephritis" RELATED [OMIM:607665] -synonym: "acute tubulointerstitial nephritis and uveitis syndrome" EXACT [Orphanet:91500] +synonym: "acute Tubulointerstitial nephritis" RELATED [] +synonym: "acute tubulointerstitial nephritis and uveitis syndrome" EXACT [] synonym: "Dobrin syndrome" EXACT [Orphanet:91500] -synonym: "TINU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607665] +synonym: "TINU" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TINU syndrome" EXACT [Orphanet:91500] synonym: "Tubulointerstitial nephritis and uveitis" EXACT [NCIT:C123021] -synonym: "TUBULOINTERSTITIAL nephritis with uveitis" RELATED [MONDO:Lexical, OMIM:607665] +synonym: "TUBULOINTERSTITIAL nephritis with uveitis" RELATED [MONDO:Lexical] xref: GARD:9252 {source="MONDO:GARD"} xref: ICD10CM:N10 {source="MONDO:relatedTo", source="Orphanet:91500", source="Orphanet:91500/ntbt"} xref: MedDRA:10069034 {source="Orphanet:91500", source="Orphanet:91500/e"} @@ -269170,12 +269217,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:98807"} subset: orphanet_rare {source="Orphanet:98807"} subset: rare -synonym: "dystonia 13, torsion, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607671] +synonym: "dystonia 13, torsion, autosomal dominant" RELATED [MONDO:Lexical] synonym: "DYT13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607671, Orphanet:98807] synonym: "primary dystonia with mixed phenotype" EXACT [Orphanet:98807] -synonym: "primary dystonia, DYT13 type" RELATED [Orphanet:98807] +synonym: "primary dystonia, DYT13 type" RELATED [] synonym: "primary torsion dystonia with predominant craniocervical or upper limb onset" EXACT [Orphanet:98807] -synonym: "torsion dystonia type 13" EXACT [DOID:0090037, MONDORULE:2] +synonym: "torsion dystonia type 13" EXACT [MONDORULE:2] xref: DOID:0090037 {source="MONDO:equivalentTo"} xref: GARD:10537 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="Orphanet:98807/attributed", source="Orphanet:98807/ntbt", source="DOID:0090037", source="Orphanet:98807"} @@ -269211,16 +269258,16 @@ subset: ordo_disorder {source="Orphanet:70592"} subset: orphanet_rare {source="Orphanet:70592"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "immunodeficiency 67" EXACT CLINGEN_LABEL [] +synonym: "immunodeficiency 67" EXACT CLINGEN_LABEL [OMIM:607676] synonym: "immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency" EXACT [Orphanet:70592] synonym: "Interleukin receptor-associated kinase deficiency" RELATED [GARD:0010311] -synonym: "invasive pneumococcal disease, protection against" RELATED [OMIM:610799] -synonym: "invasive pneumococcal disease, recurrent isolated, 1" EXACT [MONDO:Lexical, OMIM:610799] -synonym: "invasive pneumococcal disease, recurrent isolated, type 1" EXACT [MONDORULE:1, OMIM:610799] -synonym: "IPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610799] +synonym: "invasive pneumococcal disease, protection against" RELATED [] +synonym: "invasive pneumococcal disease, recurrent isolated, 1" EXACT [MONDO:Lexical] +synonym: "invasive pneumococcal disease, recurrent isolated, type 1" EXACT [MONDORULE:1] +synonym: "IPD1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "IRAK-4 deficiency" RELATED [GARD:0010311] synonym: "IRAK4 deficiency" EXACT [OMIM:607676, Orphanet:70592] -synonym: "IRAK4D" RELATED ABBREVIATION [OMIM:607676] +synonym: "IRAK4D" RELATED ABBREVIATION [] xref: GARD:10311 {source="MONDO:GARD"} xref: ICD10CM:D84.8 {source="Orphanet:70592", source="Orphanet:70592/attributed", source="Orphanet:70592/ntbt"} xref: MEDGEN:375137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -269244,12 +269291,12 @@ subset: ordo_disorder {source="Orphanet:99942"} subset: orphanet_rare {source="Orphanet:99942"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2I" RELATED [Orphanet:99942] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2I" RELATED [] synonym: "Charcot Marie Tooth disease type 2I" RELATED [GARD:0009197] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2I" RELATED [GARD:0009197, MONDO:Lexical, OMIM:607677] -synonym: "Charcot-Marie-Tooth disease, type 2I" EXACT [OMIM:607677, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2I" RELATED [GARD:0009197, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, type 2I" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2I" EXACT [DOID:0110158] -synonym: "Charcot-Marie-Tooth neuropathy, type 2I" RELATED [OMIM:607677] +synonym: "Charcot-Marie-Tooth neuropathy, type 2I" RELATED [] synonym: "CMT 2I" RELATED [GARD:0009197] synonym: "CMT2I" EXACT ABBREVIATION [DOID:0110158, MONDO:Lexical, OMIM:607677, Orphanet:99942] xref: DOID:0110158 {source="MONDO:equivalentTo"} @@ -269279,16 +269326,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Charcot Marie Tooth disease type 1D" RELATED [GARD:0009189] synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1D" RELATED [GARD:0009189, MONDO:Lexical, OMIM:607678] -synonym: "Charcot-Marie-Tooth disease, type 1D" EXACT [OMIM:607678, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1D" RELATED [GARD:0009189, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, type 1D" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 1D" EXACT [DOID:0110150] -synonym: "Charcot-Marie-Tooth neuropathy, type 1D" RELATED [OMIM:607678] +synonym: "Charcot-Marie-Tooth neuropathy, type 1D" RELATED [] synonym: "CMT 1D" RELATED [GARD:0009189] synonym: "CMT1D" EXACT ABBREVIATION [DOID:0110150, MONDO:Lexical, OMIM:607678, Orphanet:101084] synonym: "EGR2 Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary motor and sensory neuropathy 1D" EXACT [DOID:0110150, OMIM:607678] -synonym: "HMSN 1D" RELATED [OMIM:607678] -synonym: "HMSN ID" EXACT [DOID:0110150] +synonym: "HMSN 1D" RELATED [] +synonym: "HMSN ID" EXACT ABBREVIATION [DOID:0110150] synonym: "HMSN1D" EXACT ABBREVIATION [DOID:0110150, OMIM:607678] xref: DOID:0110150 {source="MONDO:equivalentTo"} xref: GARD:9189 {source="MONDO:GARD"} @@ -269317,19 +269364,19 @@ subset: nord_rare {source="MONDO:NORD"} subset: predisposition subset: rare synonym: "childhood absence epilepsy caused by mutation in GABRG2" EXACT [MONDO:design_pattern] -synonym: "ECA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607681] -synonym: "epilepsy, childhood absence, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:607681] -synonym: "epilepsy, childhood absence, susceptibility to, type 2" RELATED [MONDORULE:1, OMIM:607681] +synonym: "ECA2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "epilepsy, childhood absence, susceptibility to, 2" RELATED [MONDO:Lexical] +synonym: "epilepsy, childhood absence, susceptibility to, type 2" RELATED [MONDORULE:1] synonym: "GABRG2 childhood absence epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GABRG2 generalised epilepsy with febrile seizures plus" EXACT OMO:0003005 [] synonym: "GABRG2 generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Gefs+, type 3" RELATED [OMIM:611277] -synonym: "GEFSP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611277] +synonym: "Gefs+, type 3" RELATED [] +synonym: "GEFSP3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "generalised epilepsy with febrile seizures plus caused by mutation in GABRG2" EXACT OMO:0003005 [] synonym: "generalised epilepsy with febrile seizures plus, type 3" EXACT OMO:0003005 [] synonym: "generalized epilepsy with febrile seizures plus caused by mutation in GABRG2" EXACT [MONDO:design_pattern] -synonym: "generalized epilepsy with febrile seizures plus, type 3" EXACT [MONDO:Lexical, OMIM:611277] -synonym: "susceptibility to childhood absence epilepsy 2" RELATED [OMIM:607681] +synonym: "generalized epilepsy with febrile seizures plus, type 3" EXACT [MONDO:Lexical] +synonym: "susceptibility to childhood absence epilepsy 2" RELATED [] xref: DOID:0111298 {source="MONDO:equivalentTo"} xref: GARD:18058 {source="MONDO:GARD"} xref: MEDGEN:370755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -269354,14 +269401,14 @@ def: "Any generalized epilepsy in which the cause of the disease is a mutation i subset: predisposition synonym: "CACNB4 generalised epilepsy" EXACT OMO:0003005 [] synonym: "CACNB4 generalized epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "EIG9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607682] +synonym: "EIG9" RELATED ABBREVIATION [MONDO:Lexical] synonym: "epilepsy, idiopathic generalized, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:607682] -synonym: "epilepsy, idiopathic generalized, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:607682] -synonym: "epilepsy, juvenile myoclonic, susceptibility to, 6" RELATED [OMIM:607682] +synonym: "epilepsy, idiopathic generalized, susceptibility to, type 9" EXACT [MONDORULE:1] +synonym: "epilepsy, juvenile myoclonic, susceptibility to, 6" RELATED [] synonym: "generalised epilepsy caused by mutation in CACNB4" EXACT OMO:0003005 [] synonym: "generalized epilepsy caused by mutation in CACNB4" EXACT [MONDO:design_pattern] synonym: "susceptibility to idiopathic generalised epilepsy 9" RELATED OMO:0003005 [] -synonym: "susceptibility to idiopathic generalized epilepsy 9" RELATED [OMIM:607682] +synonym: "susceptibility to idiopathic generalized epilepsy 9" RELATED [] xref: DOID:0111323 {source="MONDO:equivalentTo"} xref: MEDGEN:413424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607682 {source="MONDO:equivalentTo"} @@ -269380,12 +269427,12 @@ name: obsolete autosomal dominant nonsyndromic hearing loss 52 def: "OBSOLETE. An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32." [DOID:0110578, PMID:18312703] subset: gard_rare {source="GARD:18119", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} -synonym: "autosomal dominant deafness 52" NARROW [DOID:0110578] -synonym: "autosomal dominant nonsyndromic deafness 52" NARROW [OMIM:607683] -synonym: "autosomal dominant nonsyndromic deafness type 52" NARROW [DOID:0110578, MONDORULE:2] -synonym: "deafness, autosomal dominant 42" NARROW [OMIM:607683] -synonym: "deafness, autosomal dominant 52" NARROW [MONDO:Lexical, OMIM:607683, OMIM:genemap2] -synonym: "DFNA52" NARROW ABBREVIATION [DOID:0110578, MONDO:Lexical, OMIM:607683] +synonym: "autosomal dominant deafness 52" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 52" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 52" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 42" NARROW [] +synonym: "deafness, autosomal dominant 52" NARROW [MONDO:Lexical] +synonym: "DFNA52" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110578 {source="MONDO:obsoleteEquivalentObsolete"} xref: GARD:18119 {source="MONDO:obsoleteEquivalent", source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110578"} @@ -269411,15 +269458,15 @@ subset: ordo_disorder {source="Orphanet:99939"} subset: orphanet_rare {source="Orphanet:99939"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2E" EXACT [DOID:0110165] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2E" EXACT [DOID:0110165, Orphanet:99939] synonym: "Charcot Marie Tooth disease type 2E" RELATED [GARD:0009193] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2E" RELATED [GARD:0009193, MONDO:Lexical, OMIM:607684] -synonym: "Charcot-Marie-Tooth disease, type 2E" EXACT [OMIM:607684, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2E" RELATED [GARD:0009193, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, type 2E" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2E" EXACT [DOID:0110165] -synonym: "Charcot-Marie-Tooth neuropathy, type 2E" RELATED [OMIM:607684] +synonym: "Charcot-Marie-Tooth neuropathy, type 2E" RELATED [] synonym: "CMT 2E" RELATED [GARD:0009193] -synonym: "CMT2E" EXACT ABBREVIATION [DOID:0110165, MONDO:Lexical, OMIM:607684, Orphanet:99939] +synonym: "CMT2E" EXACT ABBREVIATION [DOID:0110165, MONDO:Lexical, NCIT:C134953, OMIM:607684, Orphanet:99939] synonym: "NEFL Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110165 {source="MONDO:equivalentTo"} xref: GARD:9193 {source="MONDO:GARD"} @@ -269449,9 +269496,9 @@ subset: ordo_disorder {source="Orphanet:3260"} subset: orphanet_rare {source="Orphanet:3260"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HES" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607685] -synonym: "hypereosinophilic syndrome, idiopathic" RELATED [MONDO:Lexical, OMIM:607685] -synonym: "hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation" EXACT [OMIM:607685, OMIM:genemap2] +synonym: "HES" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypereosinophilic syndrome, idiopathic" RELATED [MONDO:Lexical] +synonym: "hypereosinophilic syndrome, idiopathic, resistant to imatinib, isolated cases, somatic mutation" EXACT [] xref: GARD:16625 {source="MONDO:GARD"} xref: icd11.foundation:703101846 {source="MONDO:equivalentTo"} xref: MEDGEN:61525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -269472,10 +269519,10 @@ def: "An inherited susceptibility or predisposition to developing late onset Par subset: predisposition synonym: "GIGYF2 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary late onset Parkinson disease caused by mutation in GIGYF2" EXACT [MONDO:design_pattern] -synonym: "PARK11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607688] -synonym: "Parkinson disease 11" EXACT [OMIM:607688, OMIM:genemap2] +synonym: "PARK11" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Parkinson disease 11" EXACT [] synonym: "Parkinson disease 11, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:607688] -synonym: "susceptibility to autosomal dominant Parkinson disease 11" RELATED [OMIM:607688] +synonym: "susceptibility to autosomal dominant Parkinson disease 11" RELATED [] xref: MEDGEN:896658 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564345 {source="MONDO:equivalentTo"} xref: OMIM:607688 {source="MONDO:equivalentTo"} @@ -269500,22 +269547,22 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:137639"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "4H syndrome" RELATED [OMIM:607694] -synonym: "ataxia, delayed dentition, and hypomyelination" RELATED [OMIM:607694] +synonym: "4H syndrome" RELATED [] +synonym: "ataxia, delayed dentition, and hypomyelination" RELATED [] synonym: "ataxia-delayed dentition-hypomyelination syndrome" EXACT [Orphanet:137639] synonym: "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy" EXACT [DOID:0060794] -synonym: "dentoleukoencephalopathy" RELATED [DOID:0060794] +synonym: "dentoleukoencephalopathy" RELATED [] synonym: "HLD7" EXACT ABBREVIATION [DOID:0060794, MONDO:Lexical, OMIM:607694] -synonym: "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism" RELATED [DOID:0060794] -synonym: "hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome" RELATED [Orphanet:137639] -synonym: "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" RELATED [DOID:0060794] -synonym: "leukodystrophy with oligodontia" RELATED EXCLUDE [DOID:0060794] -synonym: "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism" RELATED [MONDO:Lexical, OMIM:607694] -synonym: "leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism" RELATED [OMIM:607694] -synonym: "leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition" RELATED [OMIM:607694] +synonym: "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism" RELATED [] +synonym: "hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome" RELATED [] +synonym: "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" RELATED [] +synonym: "leukodystrophy with oligodontia" RELATED EXCLUDE [] +synonym: "leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism" RELATED [MONDO:Lexical] +synonym: "leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism" RELATED [] +synonym: "leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition" RELATED [] synonym: "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" EXACT [DOID:0060794] -synonym: "TACH syndrome" RELATED EXCLUDE [DOID:0060794] -synonym: "tremor-ataxia-central hypomyelination syndrome" RELATED EXCLUDE [DOID:0060794] +synonym: "TACH syndrome" RELATED EXCLUDE [] +synonym: "tremor-ataxia-central hypomyelination syndrome" RELATED EXCLUDE [] xref: DOID:0060794 {source="MONDO:equivalentTo"} xref: GARD:16948 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:137639", source="Orphanet:137639/attributed", source="Orphanet:137639/ntbt"} @@ -269542,9 +269589,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" EXACT [OMIM:607706] -synonym: "Charcot-Marie-Tooth disease, type 4A, axonal form" RELATED [OMIM:607706] -synonym: "Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive" RELATED [OMIM:607706] -synonym: "CMT2 with vocal cord paresis, autosomal recessive" RELATED [OMIM:607706] +synonym: "Charcot-Marie-Tooth disease, type 4A, axonal form" RELATED [] +synonym: "Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive" RELATED [] +synonym: "CMT2 with vocal cord paresis, autosomal recessive" RELATED [] xref: MEDGEN:375113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607706 {source="MONDO:equivalentTo"} xref: Orphanet:101097 {source="OMIM:607706"} @@ -269565,13 +269612,13 @@ subset: orphanet_rare {source="Orphanet:2701"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "Noonan syndrome-like disorder with loose anagen hair" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607721] -synonym: "Noonan syndrome-like disorder with loose anagen hair 1" RELATED [OMIM:607721] +synonym: "Noonan syndrome-like disorder with loose anagen hair" EXACT CLINGEN_LABEL [DOID:0080691, MONDO:Lexical, NCIT:C178129, OMIMPS:607721, Orphanet:2701] +synonym: "Noonan syndrome-like disorder with loose anagen hair 1" RELATED [] synonym: "Noonan-like syndrome with loose anagen hair" RELATED [GARD:0010719] -synonym: "NS/LAH" EXACT [Orphanet:2701] -synonym: "NSLH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607721] -synonym: "NSLH1" RELATED ABBREVIATION [OMIM:607721] -synonym: "Tosti syndrome" EXACT [OMIM:607721, Orphanet:2701] +synonym: "NS/LAH" EXACT ABBREVIATION [Orphanet:2701] +synonym: "NSLH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "NSLH1" RELATED ABBREVIATION [] +synonym: "Tosti syndrome" EXACT [] xref: DOID:0080691 {source="MONDO:equivalentTo"} xref: GARD:10719 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2701", source="Orphanet:2701/attributed", source="Orphanet:2701/ntbt"} @@ -269598,9 +269645,9 @@ subset: gard_rare {source="GARD:9504", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "POROK4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607728] -synonym: "porokeratosis 4, disseminated superficial actinic" EXACT [OMIM:607728, OMIM:genemap2] +synonym: "porokeratosis 4, disseminated superficial actinic" EXACT [] synonym: "porokeratosis 4, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:607728] -synonym: "porokeratosis, disseminated superficial actinic, 2" RELATED [OMIM:607728] +synonym: "porokeratosis, disseminated superficial actinic, 2" RELATED [] xref: GARD:9504 {source="MONDO:GARD"} xref: MEDGEN:335900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607728 {source="MONDO:equivalentTo"} @@ -269621,16 +269668,16 @@ subset: ordo_disorder {source="Orphanet:101102"} subset: orphanet_rare {source="Orphanet:101102"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AR-CMT2C" EXACT [DOID:0110166, Orphanet:101102] +synonym: "AR-CMT2C" EXACT ABBREVIATION [DOID:0110166, Orphanet:101102] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features" EXACT [DOID:0110166] synonym: "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features" EXACT [DOID:0110166] synonym: "autosomal recessive axonal CMT4C2" EXACT [DOID:0110166, Orphanet:101102] synonym: "axonal Charcot-Marie-Tooth disease with pyramidal involvement" EXACT [DOID:0110166, Orphanet:101102] synonym: "Charcot Marie Tooth disease type 2H" RELATED [GARD:0009196] -synonym: "Charcot-Marie-Tooth disease type 2H" EXACT [DOID:0110166] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2H" RELATED [MONDO:Lexical, OMIM:607731] -synonym: "Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive" RELATED [OMIM:607731] -synonym: "Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive" RELATED [OMIM:607731] +synonym: "Charcot-Marie-Tooth disease type 2H" EXACT [DOID:0110166, Orphanet:101102] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2H" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive" RELATED [] +synonym: "Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive" RELATED [] synonym: "CMT 2H" RELATED [GARD:0009196] synonym: "CMT2H" EXACT ABBREVIATION [DOID:0110166, MONDO:Lexical, OMIM:607731, Orphanet:101102] xref: DOID:0110166 {source="MONDO:equivalentTo"} @@ -269657,10 +269704,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Charcot Marie Tooth disease type 1F" RELATED [GARD:0009191] synonym: "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1F" RELATED [GARD:0009191, MONDO:Lexical, OMIM:607734] -synonym: "Charcot-Marie-Tooth disease, type 1F" EXACT [OMIM:607734, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1F" RELATED [GARD:0009191, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, type 1F" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 1F" EXACT [DOID:0110149] -synonym: "Charcot-Marie-Tooth neuropathy, type 1F" RELATED [OMIM:607734] +synonym: "Charcot-Marie-Tooth neuropathy, type 1F" RELATED [] synonym: "CMT 1F" RELATED [GARD:0009191] synonym: "CMT1F" EXACT ABBREVIATION [DOID:0110149, MONDO:Lexical, OMIM:607734, Orphanet:101085] synonym: "NEFL Charcot-Marie-Tooth disease type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -269692,14 +269739,14 @@ subset: ordo_disorder {source="Orphanet:99943"} subset: orphanet_rare {source="Orphanet:99943"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2J" RELATED [Orphanet:99943] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2J" RELATED [] synonym: "Charcot Marie Tooth disease type 2J" RELATED [GARD:0009198] synonym: "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities" EXACT [DOID:0110157] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2J" RELATED [GARD:0009198, MONDO:Lexical, OMIM:607736] -synonym: "Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities" RELATED [OMIM:607736] -synonym: "Charcot-Marie-Tooth disease, type 2J" EXACT [OMIM:607736, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2J" RELATED [GARD:0009198, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 2J" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2J" EXACT [DOID:0110157] -synonym: "Charcot-Marie-Tooth neuropathy, type 2J" RELATED [OMIM:607736] +synonym: "Charcot-Marie-Tooth neuropathy, type 2J" RELATED [] synonym: "CMT 2J" RELATED [GARD:0009198] synonym: "CMT2J" EXACT ABBREVIATION [DOID:0110157, MONDO:Lexical, OMIM:607736, Orphanet:99943] xref: DOID:0110157 {source="MONDO:equivalentTo"} @@ -269729,17 +269776,17 @@ subset: orphanet_rare {source="Orphanet:140927"} subset: rare synonym: "benign familial infantile convulsions" RELATED [GARD:0001518] synonym: "benign familial infantile epilepsy caused by mutation in SCN2A" EXACT [MONDO:design_pattern] -synonym: "benign familial neonatal-infantile seizures" EXACT CLINGEN_LABEL [] +synonym: "benign familial neonatal-infantile seizures" EXACT CLINGEN_LABEL [DOID:0081116, Orphanet:140927] synonym: "benign neonatal-infantile epilepsy" EXACT [Orphanet:140927] -synonym: "BFIS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607745] +synonym: "BFIS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "BFNIS" EXACT ABBREVIATION [GARD:0001518, Orphanet:140927] synonym: "convulsions benign familial neonatal" RELATED [GARD:0001518] -synonym: "convulsions, benign familial infantile, 3" RELATED [OMIM:607745] +synonym: "convulsions, benign familial infantile, 3" RELATED [] synonym: "epilepsy, benign neonatal-infantile" RELATED [GARD:0001518] synonym: "SCN2A benign familial infantile epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "seizures, benign familial infantile, 3" EXACT [MONDO:Lexical, OMIM:607745] -synonym: "seizures, benign familial infantile, type 3" EXACT [MONDORULE:1, OMIM:607745] -synonym: "seizures, benign familial neonatal-infantile" RELATED [OMIM:607745] +synonym: "seizures, benign familial infantile, type 3" EXACT [MONDORULE:1] +synonym: "seizures, benign familial neonatal-infantile" RELATED [] xref: DOID:0081116 {source="MONDO:equivalentTo"} xref: GARD:16521 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:140927", source="Orphanet:140927/attributed", source="Orphanet:140927/ntbt"} @@ -269776,15 +269823,15 @@ subset: orphanet_rare {source="Orphanet:79301"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of" RELATED [GARD:0009813] -synonym: "3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency" RELATED [OMIM:607765] -synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1" EXACT [Orphanet:79301] +synonym: "3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency" RELATED [] +synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1" EXACT [] synonym: "BASD1" EXACT ABBREVIATION [Orphanet:79301] -synonym: "bile acid synthesis defect, congenital, 1" RELATED [MONDO:Lexical, OMIM:607765] -synonym: "bile acid synthesis defect, congenital, type 1" EXACT [MONDORULE:1, OMIM:607765] +synonym: "bile acid synthesis defect, congenital, 1" RELATED [MONDO:Lexical] +synonym: "bile acid synthesis defect, congenital, type 1" EXACT [MONDORULE:1] synonym: "CBAS1" EXACT ABBREVIATION [DOID:0111071, MONDO:Lexical, OMIM:607765] -synonym: "congenital bile acid synthesis defect 1" EXACT CLINGEN_LABEL [] +synonym: "congenital bile acid synthesis defect 1" EXACT CLINGEN_LABEL [DOID:0111071] synonym: "congenital bile acid synthesis defect caused by mutation in HSD3B7" EXACT [MONDO:design_pattern] -synonym: "congenital bile acid synthesis defect type 1" EXACT [DOID:0111071, MONDORULE:1] +synonym: "congenital bile acid synthesis defect type 1" EXACT [MONDORULE:1, Orphanet:79301] synonym: "congenital bile acid synthesis defect, type 1" RELATED [GARD:0009813] synonym: "HSD3B7 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111071 {source="MONDO:equivalentTo"} @@ -269812,8 +269859,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:63446"} subset: orphanet_rare {source="Orphanet:63446"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607778] -synonym: "acrocapitofemoral dysplasia" EXACT [MONDO:Lexical, OMIM:607778] +synonym: "ACFD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "acrocapitofemoral dysplasia" EXACT [DOID:0050604, icd11.foundation:687396416, MONDO:Lexical, OMIM:607778, Orphanet:63446] xref: DOID:0050604 {source="MONDO:equivalentTo"} xref: GARD:10605 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:63446/attributed", source="Orphanet:63446/ntbt", source="Orphanet:63446"} @@ -269841,7 +269888,7 @@ subset: orphanet_rare {source="Orphanet:86834"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chronic myelomonocytic leukaemia" BROAD OMO:0003005 [] -synonym: "chronic myelomonocytic leukemia" BROAD [NCIT:C9233] +synonym: "chronic myelomonocytic leukemia" BROAD [] synonym: "JCML" EXACT ABBREVIATION [NCIT:C9233] synonym: "JMML" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C9233, OMIM:607785, Orphanet:86834] synonym: "juvenile chronic myelogenous leukaemia" EXACT OMO:0003005 [] @@ -269849,13 +269896,13 @@ synonym: "juvenile chronic myelogenous leukemia" EXACT [NCIT:C9233] synonym: "juvenile chronic myeloid leukaemia" EXACT OMO:0003005 [] synonym: "juvenile chronic myeloid leukemia" EXACT [NCIT:C9233] synonym: "juvenile chronic myelomonocytic leukaemia" EXACT OMO:0003005 [] -synonym: "juvenile chronic myelomonocytic leukemia" EXACT [Orphanet:86834] -synonym: "juvenile myelomonocytic leukemia" EXACT [MONDO:Lexical, NCIT:C9233, OMIM:607785] -synonym: "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation" EXACT [OMIM:607785, OMIM:genemap2] -synonym: "leukemia, chronic myelomonocytic" RELATED [OMIM:607785] -synonym: "leukemia, juvenile myelomonocytic" RELATED [OMIM:607785] -synonym: "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation" EXACT [OMIM:607785, OMIM:genemap2] -synonym: "leukemia, juvenile myelomonocytic, somatic" EXACT [OMIM:607785, OMIM:genemap2] +synonym: "juvenile chronic myelomonocytic leukemia" EXACT [NCIT:C9233, Orphanet:86834] +synonym: "juvenile myelomonocytic leukemia" EXACT [DOID:0050458, MONDO:Lexical, NCIT:C9233, OMIM:607785, Orphanet:86834] +synonym: "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation" EXACT [] +synonym: "leukemia, chronic myelomonocytic" RELATED [] +synonym: "leukemia, juvenile myelomonocytic" RELATED [] +synonym: "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation" EXACT [] +synonym: "leukemia, juvenile myelomonocytic, somatic" EXACT [] xref: DOID:0050458 {source="MONDO:equivalentTo"} xref: EFO:1000309 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9884 {source="MONDO:GARD"} @@ -269891,17 +269938,17 @@ subset: ordo_disorder {source="Orphanet:100046"} subset: orphanet_rare {source="Orphanet:100046"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110200] +synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110200, Orphanet:100046] synonym: "Charcot Marie Tooth disease dominant intermediate 3" RELATED [GARD:0009207] synonym: "Charcot-Marie-Tooth disease caused by mutation in MPZ" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease dominant intermediate type D" EXACT [DOID:0110200, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, dominant intermediate D" RELATED [MONDO:Lexical, OMIM:607791] -synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type D" EXACT [MONDORULE:1, OMIM:607791] +synonym: "Charcot-Marie-Tooth disease dominant intermediate type D" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, dominant intermediate D" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type D" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate D" EXACT [DOID:0110200] -synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate D" RELATED [OMIM:607791] +synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate D" RELATED [] synonym: "CMTDID" EXACT ABBREVIATION [DOID:0110200, MONDO:Lexical, OMIM:607791, Orphanet:100046] -synonym: "DI-CMTD" EXACT [DOID:0110200] -synonym: "Di-Cmtd" RELATED [OMIM:607791] +synonym: "DI-CMTD" EXACT ABBREVIATION [DOID:0110200, OMIM:607791] +synonym: "Di-Cmtd" RELATED [] synonym: "MPZ Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MPZ-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009207] xref: DOID:0110200 {source="MONDO:equivalentTo"} @@ -269943,10 +269990,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:50814"} subset: orphanet_rare {source="Orphanet:50814"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Boyadjiev-Jabs syndrome" EXACT [OMIM:607812, Orphanet:50814] -synonym: "CLSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607812] +synonym: "Boyadjiev-Jabs syndrome" EXACT [DOID:0070307, OMIM:607812, Orphanet:50814] +synonym: "CLSD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "cranio-lenticulo-sutural dysplasia, CLSD" EXACT [DOID:0070307] -synonym: "craniolenticulosutural dysplasia" EXACT [MONDO:Lexical, OMIM:607812] +synonym: "craniolenticulosutural dysplasia" EXACT [DOID:0070307, icd11.foundation:970423180, MONDO:Lexical, OMIM:607812, Orphanet:50814] xref: DOID:0070307 {source="MONDO:equivalentTo"} xref: GARD:16647 {source="MONDO:GARD"} xref: ICD10CM:Q75.8 {source="Orphanet:50814/attributed", source="Orphanet:50814/ntbt", source="Orphanet:50814"} @@ -269968,14 +270015,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22605", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 37" NARROW [DOID:0110495] -synonym: "autosomal recessive nonsyndromic deafness 37" NARROW [OMIM:607821] +synonym: "autosomal recessive deafness 37" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 37" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO6" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 37" NARROW [DOID:0110495, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 37" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 37" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 37" NARROW [MONDO:Lexical, OMIM:607821, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 37" NARROW [MONDORULE:2, OMIM:607821] -synonym: "DFNB37" NARROW ABBREVIATION [DOID:0110495, MONDO:Lexical, OMIM:607821] +synonym: "deafness, autosomal recessive 37" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 37" NARROW [MONDORULE:2] +synonym: "DFNB37" NARROW ABBREVIATION [MONDO:Lexical] synonym: "MYO6 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110495 {source="MONDO:equivalentTo"} xref: GARD:22605 {source="MONDO:GARD"} @@ -269997,23 +270044,23 @@ name: Alzheimer disease 3 def: "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene." [NCIT:C123412] subset: gard_rare {source="GARD:16513", source="MONDO:GARD"} subset: rare -synonym: "AD" RELATED ABBREVIATION [OMIM:607822] -synonym: "AD3" EXACT ABBREVIATION [DOID:0110042, OMIM:607822] +synonym: "AD" RELATED ABBREVIATION [] +synonym: "AD3" EXACT ABBREVIATION [DOID:0110042, NCIT:C123412, OMIM:607822] synonym: "Alzheimer disease 3" EXACT [DOID:0110042, OMIM:607822] synonym: "Alzheimer disease 3, early onset" EXACT [DOID:0110042] -synonym: "Alzheimer disease 3, early-onset" RELATED [OMIM:607822] +synonym: "Alzheimer disease 3, early-onset" RELATED [] synonym: "Alzheimer disease early onset type 3" RELATED [GARD:0009468] synonym: "Alzheimer disease familial 3" EXACT [DOID:0110042] -synonym: "Alzheimer disease type 3" EXACT [MONDORULE:1, OMIM:607822] -synonym: "Alzheimer disease, familial, 3" RELATED [OMIM:607822] -synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia" RELATED [OMIM:607822] -synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques" RELATED [OMIM:607822] -synonym: "Alzheimer disease, protection against, due to APOE3-Christchurch" EXACT [OMIM:607822, OMIM:genemap2] -synonym: "Alzheimer disease, type 3" EXACT [OMIM:607822, OMIM:genemap2] -synonym: "Alzheimer disease, type 3, with spastic paraparesis and apraxia" EXACT [OMIM:607822, OMIM:genemap2] -synonym: "Alzheimer disease, type 3, with spastic paraparesis and unusual plaques" EXACT [OMIM:607822, OMIM:genemap2] -synonym: "Alzheimer's disease 3" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 3" EXACT [DOID:0110042, MONDORULE:1] +synonym: "Alzheimer disease type 3" EXACT [MONDORULE:1] +synonym: "Alzheimer disease, familial, 3" RELATED [] +synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia" RELATED [] +synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques" RELATED [] +synonym: "Alzheimer disease, protection against, due to APOE3-Christchurch" EXACT [] +synonym: "Alzheimer disease, type 3" EXACT [] +synonym: "Alzheimer disease, type 3, with spastic paraparesis and apraxia" EXACT [] +synonym: "Alzheimer disease, type 3, with spastic paraparesis and unusual plaques" EXACT [] +synonym: "Alzheimer's disease 3" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110042, MONDO:LexicalVariant, NCIT:C123412] +synonym: "Alzheimer's disease type 3" EXACT [MONDORULE:1] synonym: "early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1" EXACT [MONDO:design_pattern] synonym: "familial Alzheimer disease, type 3" EXACT [NCIT:C123412] synonym: "familial Alzheimer's disease, type 3" EXACT [NCIT:C123412] @@ -270039,8 +270086,8 @@ name: hypotrichosis-lymphedema-telangiectasia syndrome subset: gard_rare {source="GARD:15420", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HLTS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607823] -synonym: "hypotrichosis-lymphedema-telangiectasia syndrome" EXACT [MONDO:Lexical, OMIM:607823] +synonym: "HLTS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypotrichosis-lymphedema-telangiectasia syndrome" EXACT [DOID:0111361, MONDO:Lexical, OMIM:607823] xref: DOID:0111361 {source="MONDO:equivalentTo"} xref: GARD:15420 {source="MONDO:GARD"} xref: MEDGEN:375070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -270057,11 +270104,11 @@ name: mitral valve prolapse, myxomatous 2 subset: gard_rare {source="GARD:15421", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "mitral valve prolapse 2" RELATED [OMIM:607829] +synonym: "mitral valve prolapse 2" RELATED [] synonym: "mitral valve prolapse, myxomatous 2" EXACT [MONDO:Lexical, OMIM:607829] -synonym: "MMVP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607829] -synonym: "MVP2" RELATED ABBREVIATION [OMIM:607829] -synonym: "myxomatous mitral valve prolapse 2" RELATED [OMIM:607829] +synonym: "MMVP2" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "MVP2" RELATED ABBREVIATION [] +synonym: "myxomatous mitral valve prolapse 2" RELATED [] xref: GARD:15421 {source="MONDO:GARD"} xref: MEDGEN:335856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564326 {source="MONDO:equivalentTo"} @@ -270084,14 +270131,14 @@ synonym: "ARCMT2K" EXACT ABBREVIATION [DOID:0110167, Orphanet:101097] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" EXACT [DOID:0110167] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2K" EXACT [DOID:0110167, Orphanet:101097] synonym: "autosomal recessive axonal CMT4C4" EXACT [DOID:0110167, Orphanet:101097] -synonym: "autosomal recessive Charcot-Marie-Tooth disease with hoarseness" EXACT [DOID:0110167] -synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2K" RELATED [OMIM:607831] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K" EXACT [OMIM:607831, OMIM:genemap2] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K" RELATED [OMIM:607831] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2K" RELATED [MONDO:Lexical, OMIM:607831] +synonym: "autosomal recessive Charcot-Marie-Tooth disease with hoarseness" EXACT [DOID:0110167, Orphanet:101097] +synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2K" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K" EXACT [] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2K" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2K" EXACT [DOID:0110167] -synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2K" RELATED [OMIM:607831] -synonym: "CMT2K" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607831] +synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2K" RELATED [] +synonym: "CMT2K" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0110167 {source="MONDO:equivalentTo"} xref: GARD:12448 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:101097/attributed", source="Orphanet:101097/ntbt", source="DOID:0110167", source="Orphanet:101097"} @@ -270113,10 +270160,10 @@ subset: predisposition synonym: "CD2AP focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "focal segmental glomerulosclerosis 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:607832] synonym: "focal segmental glomerulosclerosis caused by mutation in CD2AP" EXACT [MONDO:design_pattern] -synonym: "FSGS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607832] -synonym: "glomerulosclerosis, focal segmental, 3" EXACT [OMIM:607832, OMIM:genemap2] -synonym: "glomerulosclerosis, focal segmental, 3, susceptibility to" RELATED [OMIM:607832] -synonym: "susceptibility to focal segmental glomerulosclerosis 3" RELATED [OMIM:607832] +synonym: "FSGS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "glomerulosclerosis, focal segmental, 3" EXACT [] +synonym: "glomerulosclerosis, focal segmental, 3, susceptibility to" RELATED [] +synonym: "susceptibility to focal segmental glomerulosclerosis 3" RELATED [] xref: DOID:0112245 {source="MONDO:equivalentTo"} xref: MEDGEN:335850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607832 {source="MONDO:equivalentTo"} @@ -270130,9 +270177,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0011918 name: anxiety -synonym: "anxiety" EXACT [OMIM:607834] -synonym: "anxiety-related personality traits" EXACT [OMIM:607834, OMIM:genemap2] -synonym: "harm avoidance" RELATED [OMIM:607834] +synonym: "anxiety" EXACT [icd11.foundation:2027043655, OMIM:607834] +synonym: "anxiety-related personality traits" EXACT [] +synonym: "harm avoidance" RELATED [] xref: icd11.foundation:2027043655 {source="MONDO:equivalentTo"} xref: MEDGEN:1613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D001007 {source="MONDO:equivalentTo"} @@ -270148,14 +270195,14 @@ id: MONDO:0011919 name: autoimmune disease, susceptibility to, 1 def: "Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "AIS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607836] +synonym: "AIS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "autoimmune disease caused by mutation in FOXD3" EXACT [MONDO:design_pattern] -synonym: "autoimmune disease susceptibility locus, chromosome 1P-related" RELATED [OMIM:607836] +synonym: "autoimmune disease susceptibility locus, chromosome 1P-related" RELATED [] synonym: "autoimmune disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607836] -synonym: "autoimmune disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607836] +synonym: "autoimmune disease, susceptibility to, type 1" EXACT [MONDORULE:1] synonym: "FOXD3 autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to autoimmune disease 1" RELATED [OMIM:607836] -synonym: "vitiligo-associated multiple autoimmune disease susceptibility 2" RELATED [OMIM:607836] +synonym: "susceptibility to autoimmune disease 1" RELATED [] +synonym: "vitiligo-associated multiple autoimmune disease susceptibility 2" RELATED [] xref: MEDGEN:335848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607836 {source="MONDO:equivalentTo"} xref: Orphanet:247871 {source="OMIM:607836"} @@ -270172,13 +270219,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18120", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 48" NARROW [DOID:0110571] -synonym: "autosomal dominant nonsyndromic deafness 48" NARROW [OMIM:607841] +synonym: "autosomal dominant deafness 48" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 48" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO1A" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 48" NARROW [DOID:0110571, MONDORULE:2] -synonym: "deafness, autosomal dominant 48" NARROW [MONDO:Lexical, OMIM:607841, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 48" NARROW [MONDORULE:2, OMIM:607841] -synonym: "DFNA48" NARROW ABBREVIATION [DOID:0110571, MONDO:Lexical, OMIM:607841] +synonym: "autosomal dominant nonsyndromic deafness type 48" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 48" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 48" NARROW [MONDORULE:2] +synonym: "DFNA48" NARROW ABBREVIATION [MONDO:Lexical] synonym: "MYO1A autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110571 {source="MONDO:equivalentTo"} xref: GARD:18120 {source="MONDO:GARD"} @@ -270202,8 +270249,8 @@ subset: gard_rare {source="GARD:18275", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "aural atresia, congenital" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607842] -synonym: "aural atresia, congenital, with hyposmia" RELATED [OMIM:607842] -synonym: "CAA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607842] +synonym: "aural atresia, congenital, with hyposmia" RELATED [] +synonym: "CAA" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18275 {source="MONDO:GARD"} xref: MEDGEN:375051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564321 {source="MONDO:equivalentTo"} @@ -270246,11 +270293,11 @@ name: osteoarthritis susceptibility 3 def: "Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "ASPN osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "OS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607850] +synonym: "OS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "osteoarthritis caused by mutation in ASPN" EXACT [MONDO:design_pattern] -synonym: "osteoarthritis of knee/hip" RELATED [OMIM:607850] +synonym: "osteoarthritis of knee/hip" RELATED [] synonym: "osteoarthritis susceptibility 3" EXACT [MONDO:Lexical, OMIM:607850] -synonym: "osteoarthritis susceptibility type 3" EXACT [MONDORULE:1, OMIM:607850] +synonym: "osteoarthritis susceptibility type 3" EXACT [MONDORULE:1] xref: MEDGEN:382650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607850 {source="MONDO:equivalentTo"} xref: UMLS:C2675609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382650"} @@ -270262,10 +270309,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0011924 name: panic disorder 2 -synonym: "Pand2" RELATED [OMIM:607853] +synonym: "Pand2" RELATED [] synonym: "panic disorder 2" EXACT [OMIM:607853] -synonym: "panic disorder susceptibility locus, chromosome 9Q-related" RELATED [OMIM:607853] -synonym: "panic disorder type 2" EXACT [MONDORULE:1, OMIM:607853] +synonym: "panic disorder susceptibility locus, chromosome 9Q-related" RELATED [] +synonym: "panic disorder type 2" EXACT [MONDORULE:1] xref: MEDGEN:375048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607853 {source="MONDO:equivalentTo"} xref: UMLS:C1842922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375048"} @@ -270284,22 +270331,22 @@ subset: orphanet_rare {source="Orphanet:258"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CMD1A" EXACT ABBREVIATION [DOID:0110636, Orphanet:258] -synonym: "congenital merosin-deficient muscular dystrophy type 1A" EXACT [DOID:0110636, MONDORULE:4] +synonym: "congenital merosin-deficient muscular dystrophy type 1A" EXACT [MONDORULE:4] synonym: "congenital muscular dystrophy caused by mutation in LAMA2" EXACT [MONDO:design_pattern] synonym: "congenital muscular dystrophy due to laminin alpha2 deficiency" EXACT [DOID:0110636, Orphanet:258] -synonym: "congenital muscular dystrophy type 1A" RELATED [Orphanet:258] +synonym: "congenital muscular dystrophy type 1A" RELATED [] synonym: "LAMA2 congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LAMA2-related muscular dystrophy" RELATED [GARD:0003843] synonym: "laminin alpha-2 deficiency" RELATED [GARD:0003843] -synonym: "MDC1A" EXACT ABBREVIATION [DOID:0110636, MONDO:Lexical, OMIM:607855, Orphanet:258] +synonym: "MDC1A" EXACT ABBREVIATION [DOID:0110636, MONDO:Lexical, NCIT:C118783, OMIM:607855, Orphanet:258] synonym: "merosin-deficient congenital muscular dystrophy" RELATED [GARD:0003843] synonym: "merosin-deficient congenital muscular dystrophy type 1A" EXACT [NCIT:C118783] synonym: "merosin-negative congenital muscular dystrophy" EXACT [DOID:0110636, Orphanet:258] -synonym: "muscular dystrophy, congenital merosin-deficient" RELATED [OMIM:607855] -synonym: "muscular dystrophy, congenital merosin-deficient, 1A" RELATED [MONDO:Lexical, OMIM:607855] -synonym: "muscular dystrophy, congenital merosin-deficient, type 1A" EXACT [MONDORULE:4, OMIM:607855] -synonym: "muscular dystrophy, congenital, due to partial LAMA2 deficiency" RELATED [OMIM:607855] -synonym: "muscular dystrophy, congenital, merosin deficient or partially deficient" EXACT [OMIM:607855, OMIM:genemap2] +synonym: "muscular dystrophy, congenital merosin-deficient" RELATED [] +synonym: "muscular dystrophy, congenital merosin-deficient, 1A" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy, congenital merosin-deficient, type 1A" EXACT [MONDORULE:4] +synonym: "muscular dystrophy, congenital, due to partial LAMA2 deficiency" RELATED [] +synonym: "muscular dystrophy, congenital, merosin deficient or partially deficient" EXACT [] synonym: "muscular dystrophy, congenital, merosin-deficient" RELATED [GARD:0003843] xref: DOID:0110636 {source="MONDO:equivalentTo"} xref: GARD:3843 {source="MONDO:GARD"} @@ -270325,8 +270372,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011926 name: psoriasis 9, susceptibility to synonym: "psoriasis 9, susceptibility to" EXACT [MONDO:Lexical, OMIM:607857] -synonym: "psoriasis susceptibility 9" EXACT [OMIM:607857, OMIM:genemap2] -synonym: "PSORS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607857] +synonym: "psoriasis susceptibility 9" EXACT [] +synonym: "PSORS9" EXACT ABBREVIATION [DOID:0111284, MONDO:Lexical, OMIM:607857] xref: DOID:0111284 {source="MONDO:equivalentTo"} xref: MEDGEN:334635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607857 {source="MONDO:equivalentTo"} @@ -270349,9 +270396,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "angioblastoma of Nakagawa" EXACT [NCIT:C4487] synonym: "angioma tufted" RELATED [GARD:0000425] -synonym: "angioma, tufted" RELATED [OMIM:607859] +synonym: "angioma, tufted" RELATED [] synonym: "Nakagawa angioblastoma" EXACT [Orphanet:1063] -synonym: "tufted angioma" EXACT [MONDO:ambiguous, NCIT:C4487, OMIM:607859] +synonym: "tufted angioma" EXACT [icd11.foundation:1994573217, MONDO:ambiguous, NCIT:C4487, OMIM:607859, Orphanet:1063] synonym: "tufted angioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "tufted angioma of skin" EXACT [NCIT:C4487] synonym: "tufted angioma of the skin" EXACT [NCIT:C4487] @@ -270387,7 +270434,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1756"} subset: orphanet_rare {source="Orphanet:1756"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "caudal DUPLICATION anomaly" RELATED [OMIM:607864] +synonym: "caudal DUPLICATION anomaly" RELATED [] synonym: "dipygus" EXACT [Orphanet:1756] synonym: "split notochord syndrome" EXACT [Orphanet:1756] xref: GARD:1164 {source="MONDO:GARD"} @@ -270418,17 +270465,17 @@ subset: orphanet_rare {source="Orphanet:1606"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "1p telomere deletion syndrome" EXACT [NCIT:C74983] -synonym: "1p36 deletion syndrome" EXACT [DOID:0060410] +synonym: "1p36 deletion syndrome" EXACT [DOID:0060410, NCIT:C74983, Orphanet:1606] synonym: "1p36 microdeletion syndrome" EXACT [DECIPHER:18] -synonym: "chromosome 1p36 deletion syndrome" EXACT [OMIM:607872] -synonym: "chromosome 1p36 deletion syndrome, distal, isolated cases" EXACT [OMIM:607872, OMIM:genemap2] +synonym: "chromosome 1p36 deletion syndrome" EXACT [DOID:0060410] +synonym: "chromosome 1p36 deletion syndrome, distal, isolated cases" EXACT [] synonym: "Del(1)(p36)" EXACT [Orphanet:1606] synonym: "deletion 1p36" EXACT [DOID:0060410, Orphanet:1606] synonym: "deletion 1pter" EXACT [Orphanet:1606] synonym: "monosomy 1p36" EXACT [DECIPHER:18, DOID:0060410, Orphanet:1606] -synonym: "monosomy 1P36 syndrome" RELATED [OMIM:607872] +synonym: "monosomy 1P36 syndrome" RELATED [] synonym: "monosomy 1pter" EXACT [Orphanet:1606] -synonym: "subtelomeric 1p36 deletion" EXACT [DOID:0060410, Orphanet:1606] +synonym: "subtelomeric 1p36 deletion" EXACT [Orphanet:1606] xref: DECIPHER:18 {source="MONDO:equivalentTo"} xref: DOID:0060410 {source="MONDO:equivalentTo"} xref: GARD:6082 {source="MONDO:GARD"} @@ -270463,14 +270510,14 @@ subset: gard_rare {source="GARD:18083", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADRA2B epilepsy, familial adult myoclonic" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "benign adult familial myoclonic epilepsy 2" RELATED [OMIM:607876] -synonym: "cortical myoclonic tremor with epilepsy, familial, 2" RELATED [OMIM:607876] -synonym: "cortical myoclonus and epilepsy, autosomal dominant" RELATED [OMIM:607876] +synonym: "benign adult familial myoclonic epilepsy 2" RELATED [] +synonym: "cortical myoclonic tremor with epilepsy, familial, 2" RELATED [] +synonym: "cortical myoclonus and epilepsy, autosomal dominant" RELATED [] synonym: "epilepsy, familial adult myoclonic caused by mutation in ADRA2B" EXACT [MONDO:design_pattern] -synonym: "epilepsy, familial ADULT myoclonic, 2" RELATED [OMIM:607876] +synonym: "epilepsy, familial ADULT myoclonic, 2" RELATED [] synonym: "epilepsy, familial adult myoclonic, 2" EXACT [MONDO:Lexical, OMIM:607876] -synonym: "epilepsy, familial adult myoclonic, type 2" EXACT [MONDORULE:1, OMIM:607876] -synonym: "FAME2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607876] +synonym: "epilepsy, familial adult myoclonic, type 2" EXACT [MONDORULE:1] +synonym: "FAME2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111692 {source="MONDO:equivalentTo"} xref: GARD:18083 {source="MONDO:GARD"} xref: MEDGEN:375031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -270491,7 +270538,7 @@ name: ovarian cancer, susceptibility to, 1 subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare -synonym: "ovarian cancer, susceptibility to" EXACT [OMIM:607893, OMIM:genemap2] +synonym: "ovarian cancer, susceptibility to" EXACT [] synonym: "ovarian cancer, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607893] synonym: "OVCAS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607893] xref: MEDGEN:390836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -270513,14 +270560,15 @@ subset: rare synonym: "autosomal recessive localised hypotrichosis" EXACT OMO:0003005 [] synonym: "autosomal recessive localized hypotrichosis" EXACT [DOID:0110703] synonym: "DSG4 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Htl" RELATED [OMIM:607903] -synonym: "hypotrichosis 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:607903] +synonym: "Htl" RELATED [] +synonym: "hypotrichosis 6" EXACT CLINGEN_LABEL [DOID:0110703, MONDO:Lexical, OMIM:607903] synonym: "hypotrichosis caused by mutation in DSG4" EXACT [MONDO:design_pattern] -synonym: "hypotrichosis type 6" EXACT [DOID:0110703, MONDORULE:1, OMIM:607903] -synonym: "hypotrichosis, localized, autosomal recessive" RELATED [OMIM:607903] +synonym: "hypotrichosis type 6" EXACT [MONDORULE:1] +synonym: "hypotrichosis, localized, autosomal recessive" RELATED [] synonym: "hypotrichosis, localized, autosomal recessive 1" EXACT [DOID:0110703, OMIM:607903] synonym: "HYPT6" EXACT ABBREVIATION [DOID:0110703, MONDO:Lexical, OMIM:607903] -synonym: "Lah1" EXACT [DOID:0110703] +synonym: "LAH1" EXACT ABBREVIATION [DOID:0110703] +synonym: "Lah1" EXACT [] synonym: "monilethrix-like hypotrichosis" EXACT [DOID:0110703, OMIM:607903] xref: DOID:0110703 {source="MONDO:equivalentTo"} xref: GARD:15423 {source="MONDO:GARD"} @@ -270584,10 +270632,10 @@ subset: orphanet_rare {source="Orphanet:31112"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dermatofibrosarcoma" EXACT [NCIT:C4683] -synonym: "dermatofibrosarcoma protuberans" EXACT [MONDO:Lexical, OMIM:607907] -synonym: "DFSP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607907, Orphanet:31112] +synonym: "dermatofibrosarcoma protuberans" EXACT [DOID:3507, icd11.foundation:1579898301, MONDO:Lexical, NCIT:C4683, OMIM:607907, Orphanet:31112] +synonym: "DFSP" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C4683, OMIM:607907, Orphanet:31112] synonym: "familial dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:0009569] -synonym: "giant cell fibroblastoma" RELATED [OMIM:607907] +synonym: "giant cell fibroblastoma" RELATED [] synonym: "metastatic dermatofibrosarcoma protuberans (subtype)" RELATED [GARD:0009569] xref: DOID:3507 {source="MONDO:equivalentTo"} xref: GARD:9569 {source="MONDO:GARD"} @@ -270621,10 +270669,10 @@ subset: gard_rare {source="GARD:10401", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FSCN2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "macular Degeneration" RELATED [OMIM:607921] -synonym: "retinitis pigmentosa 30" EXACT [MONDO:Lexical, OMIM:607921] +synonym: "macular Degeneration" RELATED [] +synonym: "retinitis pigmentosa 30" EXACT [DOID:0110406, MONDO:Lexical, OMIM:607921] synonym: "retinitis pigmentosa caused by mutation in FSCN2" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 30" EXACT [DOID:0110406, MONDORULE:2, OMIM:607921] +synonym: "retinitis pigmentosa type 30" EXACT [MONDORULE:2] synonym: "RP 30" RELATED [GARD:0010401] synonym: "RP30" EXACT ABBREVIATION [DOID:0110406, MONDO:Lexical, OMIM:607921] xref: DOID:0110406 {source="MONDO:equivalentTo"} @@ -270650,16 +270698,16 @@ subset: orphanet_rare {source="Orphanet:139471"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia" RELATED [GARD:0003645] -synonym: "anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia" RELATED [OMIM:607932] -synonym: "Bakrania-Ragge syndrome" EXACT [Orphanet:139471] -synonym: "MCOPS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607932, Orphanet:139471] -synonym: "microphthalmia and pituitary anomalies" RELATED [OMIM:607932] +synonym: "anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia" RELATED [] +synonym: "Bakrania-Ragge syndrome" EXACT [DOID:0111805, Orphanet:139471] +synonym: "MCOPS6" EXACT ABBREVIATION [DOID:0111805, MONDO:Lexical, OMIM:607932, Orphanet:139471] +synonym: "microphthalmia and pituitary anomalies" RELATED [] synonym: "microphthalmia syndromic 6" RELATED [GARD:0003645] -synonym: "microphthalmia with brain and digit anomalies" EXACT CLINGEN_LABEL [] -synonym: "microphthalmia with brain and digit developmental anomalies" RELATED [OMIM:607932] -synonym: "microphthalmia, syndromic 6" RELATED [MONDO:Lexical, OMIM:607932] -synonym: "microphthalmia, syndromic type 6" EXACT [MONDORULE:1, OMIM:607932] -synonym: "syndromic microphthalmia type 6" EXACT [Orphanet:139471] +synonym: "microphthalmia with brain and digit anomalies" EXACT CLINGEN_LABEL [DOID:0111805, Orphanet:139471] +synonym: "microphthalmia with brain and digit developmental anomalies" RELATED [] +synonym: "microphthalmia, syndromic 6" RELATED [MONDO:Lexical] +synonym: "microphthalmia, syndromic type 6" EXACT [MONDORULE:1] +synonym: "syndromic microphthalmia type 6" EXACT [DOID:0111805, Orphanet:139471] xref: DOID:0111805 {source="MONDO:equivalentTo"} xref: GARD:3645 {source="MONDO:GARD"} xref: ICD10CM:Q11.2 {source="Orphanet:139471", source="Orphanet:139471/attributed", source="Orphanet:139471/ntbt"} @@ -270680,12 +270728,12 @@ subset: gard_rare {source="GARD:18426", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CSTA peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ichthyosis bullosa of Siemens-like" RELATED [OMIM:607936] -synonym: "ichthyosis, exfoliative, autosomal recessive" RELATED [OMIM:607936] -synonym: "peeling skin syndrome 4" EXACT [MONDO:Lexical, OMIM:607936] +synonym: "ichthyosis bullosa of Siemens-like" RELATED [] +synonym: "ichthyosis, exfoliative, autosomal recessive" RELATED [] +synonym: "peeling skin syndrome 4" EXACT [DOID:0070523, MONDO:Lexical, OMIM:607936] synonym: "peeling skin syndrome caused by mutation in CSTA" EXACT [MONDO:design_pattern] -synonym: "peeling skin syndrome type 4" EXACT [MONDORULE:1, OMIM:607936] -synonym: "PSS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:607936] +synonym: "peeling skin syndrome type 4" EXACT [MONDORULE:1] +synonym: "PSS4" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070523 {source="MONDO:equivalentTo"} xref: GARD:18426 {source="MONDO:GARD"} xref: MEDGEN:895692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -270708,9 +270756,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ASD2" EXACT ABBREVIATION [DOID:0110107, MONDO:Lexical, OMIM:607941] synonym: "atrial heart septal defect caused by mutation in GATA4" EXACT [MONDO:design_pattern] -synonym: "atrial heart septal defect type 2" EXACT [DOID:0110107, MONDORULE:1] +synonym: "atrial heart septal defect type 2" EXACT [MONDORULE:1] synonym: "atrial septal defect 2" EXACT CLINGEN_LABEL [DOID:0110107, MONDO:Lexical, OMIM:607941] -synonym: "atrial septal defect type 2" EXACT [MONDORULE:1, OMIM:607941] +synonym: "atrial septal defect type 2" EXACT [MONDORULE:1] synonym: "GATA4 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110107 {source="MONDO:equivalentTo"} xref: ICD10CM:Q21.1 {source="DOID:0110107"} @@ -270737,14 +270785,14 @@ subset: rare synonym: "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia" EXACT [OMIM:607944] synonym: "Roifman Immunoskeletal syndrome" EXACT [OMIM:607944] synonym: "SEM" RELATED ABBREVIATION [GARD:0004978] -synonym: "SPENCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:271550, Orphanet:1855] +synonym: "SPENCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607944, Orphanet:1855] synonym: "SPENCDI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607944] -synonym: "spondyloenchondrodysplasia" EXACT [MONDO:0010071, MONDO:Lexical, OMIM:271550] -synonym: "Spondyloenchondrodysplasia with immune dysregulation" EXACT CLINGEN_LABEL [] +synonym: "spondyloenchondrodysplasia" EXACT [MONDO:0010071, MONDO:Lexical, Orphanet:1855] +synonym: "Spondyloenchondrodysplasia with immune dysregulation" EXACT CLINGEN_LABEL [OMIM:607944] synonym: "spondyloenchondrodysplasia with immune dysregulation" EXACT [MONDO:Lexical, OMIM:607944] -synonym: "spondyloenchondromatosis" EXACT [OMIM:271550, Orphanet:1855] -synonym: "spondylometaphyseal dysplasia with combined immunodeficiency" EXACT [Orphanet:50816] -synonym: "spondylometaphyseal dysplasia with enchondromatous changes" EXACT [OMIM:271550, Orphanet:1855] +synonym: "spondyloenchondromatosis" EXACT [Orphanet:1855] +synonym: "spondylometaphyseal dysplasia with combined immunodeficiency" EXACT [] +synonym: "spondylometaphyseal dysplasia with enchondromatous changes" EXACT [Orphanet:1855] xref: GARD:4978 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:1855", source="Orphanet:1855/attributed", source="Orphanet:1855/ntbt"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -270784,9 +270832,9 @@ replaced_by: MONDO:0000070 id: MONDO:0011941 name: Mycobacterium tuberculosis, susceptibility to, 1 subset: predisposition -synonym: "MTBS1" RELATED ABBREVIATION [OMIM:607949] -synonym: "Mycobacterium tuberculosis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607949] -synonym: "tuberculosis, susceptibility to" BROAD [OMIM:607949, OMIM:genemap2] +synonym: "MTBS1" RELATED ABBREVIATION [] +synonym: "Mycobacterium tuberculosis, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "tuberculosis, susceptibility to" BROAD [] xref: MEDGEN:334244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607949 {source="MONDO:equivalentTo"} xref: UMLS:C1842762 {source="MEDGEN:334244", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -270843,14 +270891,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:85212"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fetal Gaucher disease" EXACT [DOID:0110960] +synonym: "fetal Gaucher disease" EXACT [DOID:0110960, Orphanet:85212] synonym: "foetal Gaucher disease" EXACT OMO:0003005 [] synonym: "Gaucher disease collodion type" EXACT [GARD:0010675] synonym: "Gaucher disease perinatal lethal" EXACT CLINGEN_LABEL [GARD:0010675] synonym: "Gaucher disease, collodion type" EXACT [DOID:0110960, OMIM:608013] synonym: "Gaucher disease, perinatal lethal" EXACT [OMIM:608013] synonym: "Gaucher disease, perinatal-lethal form" EXACT [GARD:0010675] -synonym: "Gaucher's disease perinatal lethal" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Gaucher's disease perinatal lethal" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110960, MONDO:LexicalVariant] synonym: "perinatal lethal Gaucher disease" EXACT [GARD:0010675, Orphanet:85212] xref: DOID:0110960 {source="MONDO:equivalentTo"} xref: GARD:10675 {source="MONDO:GARD"} @@ -270879,7 +270927,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:66637"} subset: orphanet_rare {source="Orphanet:66637"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diaphanospondylodysostosis" EXACT CLINGEN_LABEL [OMIM:608022] +synonym: "diaphanospondylodysostosis" EXACT CLINGEN_LABEL [icd11.foundation:508093071, OMIM:608022, Orphanet:66637] synonym: "vertebral ossification, defect in, with nephrogenic rests" EXACT [OMIM:608022] xref: GARD:16674 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:66637", source="Orphanet:66637/attributed", source="Orphanet:66637/ntbt"} @@ -270914,14 +270962,14 @@ subset: orphanet_rare {source="Orphanet:97249"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebellar atrophy with progressive microcephaly" EXACT [OMIM:608027, Orphanet:97249] -synonym: "clam" EXACT [Orphanet:97249] +synonym: "clam" EXACT [] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO" EXACT [MONDO:design_pattern] -synonym: "PCH with optic atrophy" EXACT [Orphanet:97249] -synonym: "Pch with optic atrophy" RELATED [OMIM:608027] -synonym: "PCH without dyskinesia" EXACT [Orphanet:97249] +synonym: "PCH with optic atrophy" EXACT [OMIM:608027] +synonym: "Pch with optic atrophy" RELATED [] +synonym: "PCH without dyskinesia" EXACT [] synonym: "PCH3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608027, Orphanet:97249] synonym: "PCLO non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "pontocerebellar hypoplasia, type 3" RELATED [MONDO:Lexical, OMIM:608027] +synonym: "pontocerebellar hypoplasia, type 3" RELATED [MONDO:Lexical] xref: DOID:0060272 {source="MONDO:equivalentTo"} xref: GARD:10708 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:97249/attributed", source="Orphanet:97249/ntbt", source="Orphanet:97249"} @@ -270958,13 +271006,13 @@ subset: ordo_disorder {source="Orphanet:284332"} subset: orphanet_rare {source="Orphanet:284332"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive spinocerebellar ataxia type 6" EXACT [Orphanet:284332] +synonym: "autosomal recessive spinocerebellar ataxia type 6" EXACT [DOID:0111617, Orphanet:284332] synonym: "cerebellar ataxia infantile nonprogressive autosomal recessive" RELATED [GARD:0004954] -synonym: "cerebellar ataxia, infantile nonprogressive, autosomal recessive" RELATED [OMIM:608029] -synonym: "Norwegian infantile onset ataxia" RELATED [OMIM:608029] -synonym: "SCAR6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608029, Orphanet:284332] +synonym: "cerebellar ataxia, infantile nonprogressive, autosomal recessive" RELATED [] +synonym: "Norwegian infantile onset ataxia" RELATED [] +synonym: "SCAR6" EXACT ABBREVIATION [DOID:0111617, MONDO:Lexical, OMIM:608029, Orphanet:284332] synonym: "spinocerebellar ataxia autosomal recessive 6" RELATED [GARD:0004954] -synonym: "spinocerebellar ataxia, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:608029] +synonym: "spinocerebellar ataxia, autosomal recessive 6" RELATED [MONDO:Lexical] xref: DOID:0111617 {source="MONDO:equivalentTo"} xref: GARD:4954 {source="MONDO:GARD"} xref: ICD10CM:G11.0 {source="Orphanet:284332", source="Orphanet:284332/attributed", source="Orphanet:284332/ntbt"} @@ -270985,10 +271033,10 @@ subset: gard_rare {source="GARD:9874", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ALS6" EXACT ABBREVIATION [DOID:0060198, MONDO:Lexical, OMIM:608030] -synonym: "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:608030] -synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT [DOID:0060198, OMIM:608030] +synonym: "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia" RELATED [MONDO:Lexical] +synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT [DOID:0060198] synonym: "amyotrophic lateral sclerosis caused by mutation in FUS" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT [DOID:0060198, OMIM:608030] +synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT [DOID:0060198] synonym: "FUS amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060198 {source="MONDO:equivalentTo"} xref: GARD:9874 {source="MONDO:GARD"} @@ -271039,11 +271087,11 @@ synonym: "acute necrotizing encephalopathy type 1" RELATED [GARD:0013232] synonym: "ADANE" EXACT ABBREVIATION [Orphanet:88619] synonym: "ANE1" RELATED ABBREVIATION [GARD:0013232] synonym: "autosomal dominant acute necrotizing encephalopathy" RELATED [GARD:0013232] -synonym: "encephalopathy, acute necrotizing, susceptibility to" RELATED [OMIM:608033] -synonym: "encephalopathy, acute, infection-induced, 3, susceptibility to" EXACT [OMIM:608033, OMIM:genemap2] -synonym: "encephalopathy, acute, infection-induced, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:608033] -synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:608033] -synonym: "IIAE3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608033] +synonym: "encephalopathy, acute necrotizing, susceptibility to" RELATED [] +synonym: "encephalopathy, acute, infection-induced, 3, susceptibility to" EXACT [] +synonym: "encephalopathy, acute, infection-induced, susceptibility to, 3" RELATED [MONDO:Lexical] +synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "IIAE3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "infection-induced acute encephalopathy 3" RELATED [GARD:0013232] synonym: "Postinfectious acute necrotizing hemorrhagic encephalopathy" RELATED [GARD:0013232] synonym: "recurrent acute necrotizing encephalopathy" EXACT [Orphanet:88619] @@ -271072,7 +271120,7 @@ subset: inferred_rare subset: predisposition subset: rare synonym: "CMM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608035] -synonym: "melanoma, cutaneous malignant, 4" EXACT [OMIM:608035, OMIM:genemap2] +synonym: "melanoma, cutaneous malignant, 4" EXACT [] synonym: "melanoma, cutaneous malignant, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:608035] xref: MEDGEN:334129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608035 {source="MONDO:equivalentTo"} @@ -271092,9 +271140,9 @@ name: diabetes mellitus, noninsulin-dependent, 4 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "diabetes mellitus, noninsulin-dependent, 4" EXACT [OMIM:608036] -synonym: "diabetes mellitus, noninsulin-dependent, type 4" EXACT [MONDORULE:1, OMIM:608036] -synonym: "Niddm4" RELATED [OMIM:608036] -synonym: "noninsulin-dependent diabetes mellitus 4" RELATED [OMIM:608036] +synonym: "diabetes mellitus, noninsulin-dependent, type 4" EXACT [MONDORULE:1] +synonym: "Niddm4" RELATED [] +synonym: "noninsulin-dependent diabetes mellitus 4" RELATED [] xref: MEDGEN:334578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564299 {source="MONDO:equivalentTo"} xref: OMIM:608036 {source="MONDO:equivalentTo"} @@ -271106,7 +271154,7 @@ is_a: MONDO:0005148 {source="DC-OMIM:608036", source="MESH:C564299"} ! type 2 di id: MONDO:0011956 name: autism, susceptibility to, 3 subset: predisposition -synonym: "autism susceptibility 3, isolated cases" EXACT [OMIM:608049, OMIM:genemap2] +synonym: "autism susceptibility 3, isolated cases" EXACT [] synonym: "autism, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608049] synonym: "AUTS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608049] xref: MEDGEN:334211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -271127,9 +271175,9 @@ subset: ordo_disorder {source="Orphanet:319640"} subset: orphanet_rare {source="Orphanet:319640"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "macular dystrophy, retinal, 2" RELATED [MONDO:Lexical, OMIM:608051] -synonym: "macular dystrophy, retinal, type 2" EXACT [MONDORULE:1, OMIM:608051] -synonym: "MCDR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608051, Orphanet:319640] +synonym: "macular dystrophy, retinal, 2" RELATED [MONDO:Lexical] +synonym: "macular dystrophy, retinal, type 2" EXACT [MONDORULE:1] +synonym: "MCDR2" EXACT ABBREVIATION [DOID:0070517, MONDO:Lexical, OMIM:608051, Orphanet:319640] xref: DOID:0070517 {source="MONDO:equivalentTo"} xref: GARD:17467 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:319640", source="Orphanet:319640/attributed", source="Orphanet:319640/ntbt"} @@ -271162,12 +271210,12 @@ subset: ordo_disorder {source="Orphanet:3243"} subset: orphanet_rare {source="Orphanet:3243"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acute febrile neutrophilic dermatosis" EXACT [Orphanet:3243] -synonym: "Afnd" RELATED [OMIM:608068] +synonym: "acute febrile neutrophilic dermatosis" EXACT [DOID:0080746, icd11.foundation:195212152, Orphanet:3243] +synonym: "Afnd" RELATED [] synonym: "Gomm button disease" RELATED [GARD:0000521] -synonym: "Gomm-button disease" RELATED [OMIM:608068] -synonym: "neutrophilic dermatosis, acute febrile" RELATED [OMIM:608068] -synonym: "sweet syndrome" EXACT [OMIM:608068] +synonym: "Gomm-button disease" RELATED [] +synonym: "neutrophilic dermatosis, acute febrile" RELATED [] +synonym: "sweet syndrome" EXACT [DOID:0080746, icd11.foundation:195212152, NCIT:C85177, OMIM:608068, Orphanet:3243] xref: DOID:0080746 {source="MONDO:equivalentTo"} xref: GARD:521 {source="MONDO:GARD"} xref: ICD10CM:L98.2 {source="Orphanet:3243", source="Orphanet:3243/e"} @@ -271191,11 +271239,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011960 name: schizophrenia 11 def: "A schizophrenia that has material basis in a mutation on chromosome 10q22.3." [DOID:0070087] -synonym: "schizophrenia 11" EXACT [OMIM:608078] -synonym: "schizophrenia susceptibility locus, chromosome 10Q-related" RELATED [OMIM:608078] -synonym: "schizophrenia type 11" EXACT [MONDORULE:2, OMIM:608078] -synonym: "SCZD11" EXACT ABBREVIATION [DOID:0070087] -synonym: "Sczd11" RELATED [OMIM:608078] +synonym: "schizophrenia 11" EXACT [DOID:0070087, OMIM:608078] +synonym: "schizophrenia susceptibility locus, chromosome 10Q-related" RELATED [] +synonym: "schizophrenia type 11" EXACT [MONDORULE:2] +synonym: "SCZD11" EXACT ABBREVIATION [DOID:0070087, OMIM:608078] +synonym: "Sczd11" RELATED [] xref: DOID:0070087 {source="MONDO:equivalentTo"} xref: MEDGEN:334205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608078 {source="DOID:0070087", source="MONDO:equivalentTo"} @@ -271214,14 +271262,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" EXACT [Orphanet:139564] synonym: "hereditary sensory and autonomic neuropathy type IB" EXACT [Orphanet:139564] -synonym: "hereditary sensory neuropathy type 1B" RELATED [DOID:0070148] +synonym: "hereditary sensory neuropathy type 1B" RELATED [] synonym: "hereditary sensory neuropathy type IB" EXACT [DOID:0070148] synonym: "HSAN with cough and gastroesophageal reflux" EXACT [DOID:0070148, Orphanet:139564] synonym: "HSAN1B" EXACT ABBREVIATION [Orphanet:139564] -synonym: "neuropathy, hereditary sensory and autonomic, type 1B" RELATED [OMIM:608088] -synonym: "neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux" RELATED [OMIM:608088] -synonym: "neuropathy, hereditary sensory, type 1B" RELATED [OMIM:608088] -synonym: "neuropathy, hereditary sensory, type IB" EXACT [OMIM:608088, OMIM:genemap2] +synonym: "neuropathy, hereditary sensory and autonomic, type 1B" RELATED [] +synonym: "neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux" RELATED [] +synonym: "neuropathy, hereditary sensory, type 1B" RELATED [] +synonym: "neuropathy, hereditary sensory, type IB" EXACT [] xref: DOID:0070148 {source="MONDO:equivalentTo"} xref: GARD:16958 {source="MONDO:GARD"} xref: ICD10CM:G60.8 {source="Orphanet:139564/attributed", source="Orphanet:139564/ntbt", source="Orphanet:139564"} @@ -271244,18 +271292,18 @@ def: "Primary or metastatic malignant neoplasm involving the endometrium (mucous subset: otar {source="MONDO:OTAR"} synonym: "cancer of endometrium" EXACT [MONDO:patterns/cancer] synonym: "endometrial Ca" EXACT [DOID:1380] -synonym: "endometrial cancer" EXACT [OMIM:608089] -synonym: "endometrial cancer, familial, autosomal dominant, somatic mutation" EXACT [OMIM:608089, OMIM:genemap2] -synonym: "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:608089, OMIM:genemap2] -synonym: "endometrial carcinoma, somatic" EXACT [OMIM:608089, OMIM:genemap2] -synonym: "endometrial neoplasm" BROAD [DOID:1380] +synonym: "endometrial cancer" EXACT [DOID:1380, OMIM:608089] +synonym: "endometrial cancer, familial, autosomal dominant, somatic mutation" EXACT [] +synonym: "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [] +synonym: "endometrial carcinoma, somatic" EXACT [] +synonym: "endometrial neoplasm" BROAD [] synonym: "endometrium cancer" EXACT [MONDO:patterns/location] synonym: "malignant endometrial neoplasm" EXACT [DOID:1380, NCIT:C27815] synonym: "malignant endometrium neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of endometrium" EXACT [DOID:1380, MONDO:patterns/cancer] -synonym: "neoplasm of endometrium" BROAD [DOID:1380] +synonym: "neoplasm of endometrium" BROAD [] synonym: "primary malignant neoplasm of endometrium" EXACT [DOID:1380] -synonym: "tumor of endometrium" BROAD [DOID:1380, NCIT:C3012] +synonym: "tumor of endometrium" BROAD [] synonym: "tumour of endometrium" BROAD OMO:0003005 [] xref: DOID:1380 {source="MONDO:equivalentTo"} xref: ICD10CM:C54.1 {source="DOID:1380"} @@ -271279,13 +271327,13 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:10167", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Cerebellooculorenal syndrome 2" RELATED [OMIM:608091] -synonym: "cerebellooculorenal syndrome 2" EXACT [DOID:0110988] +synonym: "Cerebellooculorenal syndrome 2" RELATED [] +synonym: "cerebellooculorenal syndrome 2" EXACT [DOID:0110988, OMIM:608091] synonym: "CORS2" EXACT ABBREVIATION [DOID:0110988] synonym: "JBTS2" EXACT ABBREVIATION [DOID:0110988, MONDO:Lexical, OMIM:608091] -synonym: "Joubert syndrome 2" EXACT [MONDO:Lexical, OMIM:608091] +synonym: "Joubert syndrome 2" EXACT [DOID:0110988, MONDO:Lexical, OMIM:608091] synonym: "Joubert syndrome caused by mutation in TMEM216" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 2" EXACT [DOID:0110988, MONDORULE:1, OMIM:608091] +synonym: "Joubert syndrome type 2" EXACT [MONDORULE:1] synonym: "TMEM216 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110988 {source="MONDO:equivalentTo"} xref: GARD:10167 {source="MONDO:GARD"} @@ -271313,14 +271361,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carbohydrate deficient glycoprotein syndrome type Ij" EXACT [Orphanet:86309] synonym: "CDG 1J" RELATED [GARD:0009837] -synonym: "CDG Ij" RELATED [OMIM:608093] +synonym: "CDG Ij" RELATED [] synonym: "CDG syndrome type Ij" EXACT [Orphanet:86309] synonym: "CDG-Ij" EXACT [Orphanet:86309] synonym: "CDG1J" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608093, Orphanet:86309] synonym: "CDGIj" EXACT [NCIT:C126874] synonym: "congenital disorder of glycosylation type 1j" EXACT [Orphanet:86309] -synonym: "congenital disorder of glycosylation type Ij" EXACT [Orphanet:86309] -synonym: "congenital disorder of glycosylation, type Ij" RELATED [MONDO:Lexical, OMIM:608093] +synonym: "congenital disorder of glycosylation type Ij" EXACT [NCIT:C126874, Orphanet:86309] +synonym: "congenital disorder of glycosylation, type Ij" RELATED [MONDO:Lexical] synonym: "dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency" EXACT [Orphanet:86309] synonym: "DPAGT1-CDG" EXACT ABBREVIATION [Orphanet:86309] synonym: "DPAGT1-CDG (CDG-Ij)" RELATED [GARD:0009837] @@ -271350,11 +271398,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "epilepsy, familial temporal lobe" RELATED [GARD:0005135] -synonym: "epilepsy, familial temporal lobe, 2" RELATED [MONDO:Lexical, OMIM:608096] +synonym: "epilepsy, familial temporal lobe, 2" RELATED [MONDO:Lexical] synonym: "ETL2" EXACT ABBREVIATION [DOID:0060755, MONDO:Lexical, OMIM:608096] -synonym: "familial temporal lobe epilepsy" RELATED [Orphanet:98819] -synonym: "familial temporal lobe epilepsy type 2" EXACT [DOID:0060755, MONDORULE:1] -synonym: "Ftle" RELATED [OMIM:608096] +synonym: "familial temporal lobe epilepsy" RELATED [] +synonym: "familial temporal lobe epilepsy type 2" EXACT [MONDORULE:1] +synonym: "Ftle" RELATED [] synonym: "temporal epilepsy, familial" RELATED [GARD:0005135] xref: DOID:0060755 {source="MONDO:equivalentTo"} xref: ICD10CM:G40.2 {source="Orphanet:98819/attributed", source="Orphanet:98819/ntbt", source="Orphanet:98819"} @@ -271371,10 +271419,10 @@ name: periventricular heterotopia with microcephaly, autosomal recessive subset: gard_rare {source="GARD:15424", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ARPHM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608097] -synonym: "heterotopia, periventricular, autosomal recessive" RELATED [OMIM:608097] +synonym: "ARPHM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "heterotopia, periventricular, autosomal recessive" RELATED [] synonym: "periventricular heterotopia with microcephaly, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608097] -synonym: "periventricular nodular heterotopia 2" RELATED [OMIM:608097] +synonym: "periventricular nodular heterotopia 2" RELATED [] xref: GARD:15424 {source="MONDO:GARD"} xref: MEDGEN:334110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564292 {source="MONDO:equivalentTo"} @@ -271392,7 +271440,7 @@ subset: gard_rare {source="GARD:15425", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "heterotopia, periventricular, associated with chromosome 5P anomalies" EXACT [OMIM:608098] -synonym: "periventricular nodular heterotopia 3" RELATED [OMIM:608098] +synonym: "periventricular nodular heterotopia 3" RELATED [] xref: GARD:15425 {source="MONDO:GARD"} xref: MEDGEN:374963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564291 {source="MONDO:equivalentTo"} @@ -271412,18 +271460,18 @@ subset: ordo_disorder {source="Orphanet:62"} subset: orphanet_rare {source="Orphanet:62"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Adhalinopathy, primary" RELATED [OMIM:608099] +synonym: "Adhalinopathy, primary" RELATED [] synonym: "Alpha-sarcoglycanopathy" EXACT [DOID:0110278, Orphanet:62] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA" EXACT [MONDO:design_pattern] synonym: "DMDA2" EXACT ABBREVIATION [DOID:0110278] synonym: "Duchenne-like autosomal recessive muscular dystrophy type 2" EXACT [DOID:0110278] -synonym: "Duchenne-like autosomal recessive muscular dystrophy, type 2" RELATED [OMIM:608099] -synonym: "LGMD2D" EXACT ABBREVIATION [DOID:0110278, MONDO:Lexical, OMIM:608099, Orphanet:62] +synonym: "Duchenne-like autosomal recessive muscular dystrophy, type 2" RELATED [] +synonym: "LGMD2D" EXACT ABBREVIATION [DOID:0110278, MONDO:Lexical, NCIT:C142081, Orphanet:62] synonym: "limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency" EXACT [Orphanet:62] -synonym: "limb-girdle muscular dystrophy type 2D" EXACT [NCIT:C142081] +synonym: "limb-girdle muscular dystrophy type 2D" EXACT [NCIT:C142081, Orphanet:62] synonym: "limb-girdle muscular dystrophy, type 2D" RELATED [GARD:0000438] synonym: "muscular dystrophy limb-girdle with alpha-sarcoglycan" RELATED [GARD:0000438] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 3" EXACT [OMIM:608099, OMIM:genemap2] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 3" EXACT [OMIM:608099] synonym: "muscular dystrophy, limb-girdle, type 2D" EXACT [DOID:0110278, MONDO:Lexical, OMIM:608099] synonym: "primary adhalinopathy" EXACT [DOID:0110278] synonym: "SGCA autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -271461,13 +271509,13 @@ synonym: "ALG8-CDG (CDG-Ih)" RELATED [GARD:0009834] synonym: "ALG8-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] synonym: "carbohydrate deficient glycoprotein syndrome type Ih" EXACT [Orphanet:79325] synonym: "CDG 1H" RELATED [GARD:0009834] -synonym: "CDG Ih" RELATED [OMIM:608104] +synonym: "CDG Ih" RELATED [] synonym: "CDG syndrome type Ih" EXACT [Orphanet:79325] synonym: "CDG-Ih" EXACT [Orphanet:79325] synonym: "CDG1H" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608104, Orphanet:79325] synonym: "congenital disorder of glycosylation type 1h" EXACT [Orphanet:79325] synonym: "congenital disorder of glycosylation type Ih" EXACT [Orphanet:79325] -synonym: "congenital disorder of glycosylation, type Ih" RELATED [MONDO:Lexical, OMIM:608104] +synonym: "congenital disorder of glycosylation, type Ih" RELATED [MONDO:Lexical] synonym: "glucosyltransferase 2 deficiency" EXACT [Orphanet:79325] xref: DOID:0080560 {source="MONDO:equivalentTo"} xref: GARD:9834 {source="MONDO:GARD"} @@ -271496,10 +271544,10 @@ subset: ordo_disorder {source="Orphanet:163727"} subset: orphanet_rare {source="Orphanet:163727"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp" EXACT [OMIM:608105, OMIM:genemap2] -synonym: "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp" RELATED [MONDO:Lexical, OMIM:608105] -synonym: "EPRPDC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608105] -synonym: "Re-ped-Wc" RELATED [OMIM:608105] +synonym: "epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp" EXACT [] +synonym: "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp" RELATED [MONDO:Lexical] +synonym: "EPRPDC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Re-ped-Wc" RELATED [] xref: DOID:0111645 {source="MONDO:equivalentTo"} xref: GARD:17003 {source="MONDO:GARD"} xref: icd11.foundation:1311096281 {source="MONDO:equivalentTo"} @@ -271528,10 +271576,10 @@ synonym: "hyper-IgM syndrome 5" EXACT [DOID:0060759, OMIM:608106] synonym: "hyper-IgM syndrome caused by mutation in UNG" EXACT [MONDO:design_pattern] synonym: "hyper-IgM syndrome due to UNG deficiency" EXACT [DOID:0060759, Orphanet:101092] synonym: "hyper-IgM syndrome due to uracil N-glycosylase" EXACT [DOID:0060759, Orphanet:101092] -synonym: "hyper-IgM syndrome type 5" EXACT CLINGEN_LABEL [] -synonym: "immunodeficiency with hyper IgM type 5" RELATED [DOID:0060759] -synonym: "immunodeficiency with hyper IgM, type 5" EXACT [OMIM:608106, OMIM:genemap2] -synonym: "immunodeficiency with hyper-IgM, type 5" RELATED [MONDO:Lexical, OMIM:608106] +synonym: "hyper-IgM syndrome type 5" EXACT CLINGEN_LABEL [Orphanet:101092] +synonym: "immunodeficiency with hyper IgM type 5" RELATED [] +synonym: "immunodeficiency with hyper IgM, type 5" EXACT [] +synonym: "immunodeficiency with hyper-IgM, type 5" RELATED [MONDO:Lexical] synonym: "UNG hyper-IgM syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060759 {source="MONDO:equivalentTo"} xref: GARD:10581 {source="MONDO:GARD"} @@ -271560,8 +271608,8 @@ subset: orphanet_rare {source="Orphanet:64739"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "OHSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608115, Orphanet:64739] -synonym: "ovarian hyperstimulation syndrome" EXACT [MONDO:Lexical, OMIM:608115] -synonym: "ovarian hyperstimulation syndrome, familial gestational spontaneous" RELATED [OMIM:608115] +synonym: "ovarian hyperstimulation syndrome" EXACT [DOID:5425, icd11.foundation:1216664013, MONDO:Lexical, OMIM:608115, Orphanet:64739] +synonym: "ovarian hyperstimulation syndrome, familial gestational spontaneous" RELATED [] synonym: "secondary Meig's syndrome" EXACT [DOID:5425] xref: DOID:5425 {source="MONDO:equivalentTo"} xref: GARD:16668 {source="MONDO:GARD"} @@ -271583,10 +271631,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0011973 name: zinc deficiency, transient neonatal subset: otar {source="MONDO:OTAR"} -synonym: "TNZD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608118] -synonym: "zinc deficiency, neonatal, due to Low breast milk zinc" RELATED [OMIM:608118] +synonym: "TNZD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "zinc deficiency, neonatal, due to Low breast milk zinc" RELATED [] synonym: "zinc deficiency, transient neonatal" EXACT [MONDO:Lexical, OMIM:608118] -synonym: "zinc in breast milk, reduced" RELATED [OMIM:608118] +synonym: "zinc in breast milk, reduced" RELATED [] xref: MEDGEN:330858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564286 {source="MONDO:equivalentTo"} xref: OMIM:608118 {source="MONDO:equivalentTo"} @@ -271601,11 +271649,11 @@ def: "A retinitis pigmentosain which the cause of the disease is a variation in subset: gard_rare {source="GARD:10386", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Leber congenital amaurosis 18" RELATED [OMIM:608133] -synonym: "retinitis pigmentosa 7" EXACT [MONDO:Lexical, OMIM:608133] -synonym: "retinitis pigmentosa 7, digenic" RELATED [OMIM:608133] -synonym: "retinitis pigmentosa 7, digenic form, autosomal recessive, autosomal dominant, digenic dominant" NARROW [OMIM:608133, OMIM:genemap2] -synonym: "retinitis pigmentosa type 7" EXACT [DOID:0110383, MONDORULE:1, OMIM:608133] +synonym: "Leber congenital amaurosis 18" RELATED [] +synonym: "retinitis pigmentosa 7" EXACT [DOID:0110383, MONDO:Lexical, OMIM:608133] +synonym: "retinitis pigmentosa 7, digenic" RELATED [] +synonym: "retinitis pigmentosa 7, digenic form, autosomal recessive, autosomal dominant, digenic dominant" NARROW [] +synonym: "retinitis pigmentosa type 7" EXACT [MONDORULE:1] synonym: "RP 7" RELATED [GARD:0010386] synonym: "RP7" EXACT ABBREVIATION [DOID:0110383, MONDO:Lexical, OMIM:608133] xref: DOID:0110383 {source="MONDO:equivalentTo"} @@ -271629,11 +271677,11 @@ subset: ordo_etiological_subtype {source="Orphanet:96334"} subset: ordo_subtype_of_a_disorder {source="Orphanet:96334"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "KAGAMI-Ogata syndrome" RELATED [OMIM:608149] +synonym: "KAGAMI-Ogata syndrome" RELATED [] synonym: "paternal uniparental disomy 14" RELATED [GARD:0005409] -synonym: "paternal uniparental disomy of chromosome 14" EXACT CLINGEN_LABEL [] -synonym: "paternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, Orphanet:96334] -synonym: "uniparental disomy, paternal, chromosome 14" RELATED [OMIM:608149] +synonym: "paternal uniparental disomy of chromosome 14" EXACT CLINGEN_LABEL [icd11.foundation:1835121942] +synonym: "paternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2] +synonym: "uniparental disomy, paternal, chromosome 14" RELATED [] synonym: "UPD(14)pat" EXACT [Orphanet:96334] xref: GARD:5409 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96334", source="Orphanet:96334/attributed", source="Orphanet:96334/ntbt"} @@ -271660,8 +271708,8 @@ subset: ordo_disorder {source="Orphanet:50811"} subset: orphanet_rare {source="Orphanet:50811"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones" RELATED [OMIM:608154] -synonym: "lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones" RELATED DEPRECATED [OMIM:608154] +synonym: "lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones" RELATED [] +synonym: "lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones" RELATED DEPRECATED [] synonym: "Rajab-Spranger syndrome" EXACT [Orphanet:50811] xref: GARD:16646 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:50811", source="Orphanet:50811/attributed", source="Orphanet:50811/ntbt"} @@ -271688,11 +271736,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:178303"} subset: orphanet_rare {source="Orphanet:178303"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 8Q22.1 deletion syndrome" RELATED [OMIM:608156] +synonym: "chromosome 8Q22.1 deletion syndrome" RELATED [] synonym: "monosomy 8q22.1" EXACT [Orphanet:178303] -synonym: "NABLUS mask-like facial syndrome" RELATED [MONDO:Lexical, OMIM:608156] -synonym: "Nablus mask-like facial syndrome" EXACT [Orphanet:178303] -synonym: "NMLFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608156] +synonym: "NABLUS mask-like facial syndrome" RELATED [MONDO:Lexical] +synonym: "Nablus mask-like facial syndrome" EXACT [OMIM:608156, Orphanet:178303] +synonym: "NMLFS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:4722 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:178303", source="Orphanet:178303/attributed", source="Orphanet:178303/ntbt"} xref: MEDGEN:334165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -271740,12 +271788,12 @@ synonym: "AVMD" EXACT ABBREVIATION [Orphanet:99000] synonym: "foveomacular dystrophy, adult-onset, with choroidal neovascularization" RELATED [GARD:0010909] synonym: "foveomacular dystrophy, adult-onset; AOFMD" RELATED [GARD:0010909] synonym: "Gass disease" EXACT [Orphanet:99000] -synonym: "macular dystrophy, vitelliform, 3" RELATED [MONDO:Lexical, OMIM:608161] +synonym: "macular dystrophy, vitelliform, 3" RELATED [MONDO:Lexical] synonym: "macular dystrophy, vitelliform, adult-onset" RELATED [GARD:0010909] -synonym: "macular dystrophy, vitelliform, type 3" EXACT [MONDORULE:1, OMIM:608161] +synonym: "macular dystrophy, vitelliform, type 3" EXACT [MONDORULE:1] synonym: "pseudo-Best disease" EXACT [Orphanet:99000] synonym: "pseudo-vitelliform macular dystrophy" EXACT [Orphanet:99000] -synonym: "VMD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608161] +synonym: "VMD3" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:10909 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:99000/attributed", source="Orphanet:99000/ntbt", source="Orphanet:99000"} xref: icd11.foundation:558806410 {source="MONDO:equivalentTo"} @@ -271760,9 +271808,9 @@ is_a: MONDO:0020242 {source="MONDO:Redundant", source="Orphanet:99000"} ! heredi id: MONDO:0011980 name: autoimmune thyroid disease, susceptibility to, 1 subset: predisposition -synonym: "AITD1" RELATED ABBREVIATION [OMIM:608173] +synonym: "AITD1" RELATED ABBREVIATION [] synonym: "autoimmune thyroid disease, susceptibility to, 1" EXACT [OMIM:608173] -synonym: "autoimmune thyroid disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:608173] +synonym: "autoimmune thyroid disease, susceptibility to, type 1" EXACT [MONDORULE:1] xref: MEDGEN:334160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608173 {source="MONDO:equivalentTo"} xref: UMLS:C1842446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334160"} @@ -271772,9 +271820,9 @@ is_a: MONDO:0000162 {source="DC-OMIM:608173"} ! autoimmune thyroid disease, susc id: MONDO:0011981 name: autoimmune thyroid disease, susceptibility to, 2 subset: predisposition -synonym: "AITD2" RELATED ABBREVIATION [OMIM:608174] +synonym: "AITD2" RELATED ABBREVIATION [] synonym: "autoimmune thyroid disease, susceptibility to, 2" EXACT [OMIM:608174] -synonym: "autoimmune thyroid disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608174] +synonym: "autoimmune thyroid disease, susceptibility to, type 2" EXACT [MONDORULE:1] xref: MEDGEN:334159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608174 {source="MONDO:equivalentTo"} xref: UMLS:C1842445 {source="MONDO:equivalentTo", source="MEDGEN:334159", source="MONDO:MEDGEN"} @@ -271785,11 +271833,11 @@ id: MONDO:0011982 name: autoimmune thyroid disease, susceptibility to, 3 comment: Editor note: TODO check causative gene; check ORDO synonyms subset: predisposition -synonym: "AITD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608175] +synonym: "AITD3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "autoimmune thyroid disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608175] -synonym: "autoimmune thyroid disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:608175] -synonym: "TGN" RELATED EXCLUDE [Orphanet:168347] -synonym: "thyroglobulin" RELATED EXCLUDE [Orphanet:168347] +synonym: "autoimmune thyroid disease, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "TGN" RELATED EXCLUDE [] +synonym: "thyroglobulin" RELATED EXCLUDE [] xref: MEDGEN:374932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608175 {source="MONDO:equivalentTo"} xref: UMLS:C1842444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:374932"} @@ -271799,9 +271847,9 @@ is_a: MONDO:0000162 {source="DC-OMIM:608175"} ! autoimmune thyroid disease, susc id: MONDO:0011983 name: autoimmune thyroid disease, susceptibility to, 4 subset: predisposition -synonym: "AITD4" RELATED ABBREVIATION [OMIM:608176] +synonym: "AITD4" RELATED ABBREVIATION [] synonym: "autoimmune thyroid disease, susceptibility to, 4" EXACT [OMIM:608176] -synonym: "autoimmune thyroid disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608176] +synonym: "autoimmune thyroid disease, susceptibility to, type 4" EXACT [MONDORULE:1] xref: MEDGEN:334080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608176 {source="MONDO:equivalentTo"} xref: UMLS:C1842443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334080"} @@ -271822,10 +271870,10 @@ synonym: "SD2, Debeer type" EXACT [Orphanet:295197] synonym: "SD2b" EXACT [Orphanet:295197] synonym: "SPD, Debeer type" EXACT [Orphanet:295197] synonym: "SPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608180, Orphanet:295197] -synonym: "synpolydactyly 2" RELATED [MONDO:Lexical, OMIM:608180] -synonym: "synpolydactyly type 2" EXACT [MONDORULE:1, OMIM:608180] -synonym: "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses" EXACT [OMIM:608180, OMIM:genemap2] -synonym: "synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses" RELATED [OMIM:608180] +synonym: "synpolydactyly 2" RELATED [MONDO:Lexical] +synonym: "synpolydactyly type 2" EXACT [icd11.foundation:1370014661, MONDORULE:1, Orphanet:295197] +synonym: "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses" EXACT [] +synonym: "synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses" RELATED [] synonym: "synpolydactyly, Debeer type" EXACT [Orphanet:295197] xref: GARD:17359 {source="MONDO:GARD"} xref: ICD10CM:Q70.0 {source="Orphanet:295197/nd", source="Orphanet:295197", source="Orphanet:295197/attributed"} @@ -271857,11 +271905,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HIGM4" EXACT ABBREVIATION [DOID:0060760, MONDO:Lexical, OMIM:608184, Orphanet:101091] synonym: "hyper IgM syndrome 4" RELATED [GARD:0010580] -synonym: "hyper-IgM syndrome 4" RELATED [OMIM:608184] -synonym: "hyper-IgM syndrome type 4" EXACT [DOID:0060760] +synonym: "hyper-IgM syndrome 4" RELATED [] +synonym: "hyper-IgM syndrome type 4" EXACT [DOID:0060760, Orphanet:101091] synonym: "immunodeficiency with hyper IgM type 4" RELATED [GARD:0010580] -synonym: "immunodeficiency with hyper-IgM type 4" RELATED [DOID:0060760] -synonym: "immunodeficiency with hyper-IgM, type 4" RELATED [MONDO:Lexical, OMIM:608184] +synonym: "immunodeficiency with hyper-IgM type 4" RELATED [] +synonym: "immunodeficiency with hyper-IgM, type 4" RELATED [MONDO:Lexical] xref: DOID:0060760 {source="MONDO:equivalentTo"} xref: GARD:10580 {source="MONDO:GARD"} xref: ICD10CM:D80.5 {source="DOID:0060760", source="Orphanet:101091", source="Orphanet:101091/attributed", source="Orphanet:101091/ntbt"} @@ -271883,10 +271931,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:103918"} subset: orphanet_rare {source="Orphanet:103918"} subset: rare -synonym: "fibrocalculous pancreatic diabetes, susceptibility to" RELATED [OMIM:608189, OMIM:genemap2] +synonym: "fibrocalculous pancreatic diabetes, susceptibility to" RELATED [] synonym: "TCP" EXACT ABBREVIATION [OMIM:608189, Orphanet:103918] -synonym: "tropical calcific chronic pancreatitis" EXACT [Orphanet:103918] -synonym: "tropical calcific pancreatitis" RELATED [OMIM:608189] +synonym: "tropical calcific chronic pancreatitis" EXACT [icd11.foundation:1645607956, Orphanet:103918] +synonym: "tropical calcific pancreatitis" RELATED [] xref: GARD:16946 {source="MONDO:GARD"} xref: ICD10CM:K86.1 {source="Orphanet:103918/ntbt", source="Orphanet:103918"} xref: icd11.foundation:1645607956 {source="MONDO:equivalentTo", source="Orphanet:103918"} @@ -271909,9 +271957,9 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:15426", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 13" EXACT [MONDO:Lexical, OMIM:608194] +synonym: "cone-rod dystrophy 13" EXACT [DOID:0111016, MONDO:Lexical, OMIM:608194] synonym: "cone-rod dystrophy caused by mutation in RPGRIP1" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 13" EXACT [DOID:0111016, MONDORULE:2, OMIM:608194] +synonym: "cone-rod dystrophy type 13" EXACT [MONDORULE:2] synonym: "CORD13" EXACT ABBREVIATION [DOID:0111016, MONDO:Lexical, OMIM:608194] synonym: "RPGRIP1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111016 {source="MONDO:equivalentTo"} @@ -271936,8 +271984,8 @@ subset: ordo_disorder {source="Orphanet:183707"} subset: orphanet_rare {source="Orphanet:183707"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis" EXACT [OMIM:608203, OMIM:genemap2] -synonym: "neutrophil immunodeficiency syndrome" EXACT [OMIM:608203] +synonym: "immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis" EXACT [] +synonym: "neutrophil immunodeficiency syndrome" EXACT [DOID:0112064, icd11.foundation:1459690929, OMIM:608203] xref: DOID:0112064 {source="MONDO:equivalentTo"} xref: GARD:17087 {source="MONDO:GARD"} xref: ICD10CM:D71 {source="Orphanet:183707/attributed", source="Orphanet:183707/ntbt", source="Orphanet:183707"} @@ -271965,7 +272013,7 @@ subset: orphanet_rare {source="Orphanet:507"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cutaneous leishmaniasis (subtype)" RELATED [GARD:0006881] -synonym: "post kala-Azar dermal leishmaniasis" RELATED [DOID:9065, NCIT:C34936] +synonym: "post kala-Azar dermal leishmaniasis" RELATED [DOID:9065] synonym: "post-kala-azar dermal infectious disease by leishmaniasis" RELATED [DOID:9065] synonym: "post-kala-azar dermal leishmaniasis" RELATED [DOID:9065] synonym: "visceral leishmaniasis (subtype)" RELATED [GARD:0006881] @@ -272003,7 +272051,7 @@ subset: gard_rare {source="GARD:15427", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BFNS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608217] -synonym: "convulsions, benign familial neonatal, 3" RELATED [OMIM:608217] +synonym: "convulsions, benign familial neonatal, 3" RELATED [] synonym: "seizures, benign familial neonatal, 3" EXACT [MONDO:Lexical, OMIM:608217] xref: GARD:15427 {source="MONDO:GARD"} xref: MEDGEN:334063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -272020,11 +272068,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22606", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 38" NARROW [DOID:0110496] -synonym: "autosomal recessive nonsyndromic deafness 38" NARROW [OMIM:608219] -synonym: "autosomal recessive nonsyndromic deafness type 38" NARROW [DOID:0110496, MONDORULE:2] -synonym: "deafness, autosomal recessive 38" NARROW [MONDO:Lexical, OMIM:608219, OMIM:genemap2] -synonym: "DFNB38" NARROW ABBREVIATION [DOID:0110496, MONDO:Lexical, OMIM:608219] +synonym: "autosomal recessive deafness 38" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 38" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 38" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 38" NARROW [MONDO:Lexical] +synonym: "DFNB38" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110496 {source="MONDO:equivalentTo"} xref: GARD:22606 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110496"} @@ -272046,12 +272094,12 @@ subset: orphanet_rare {source="Orphanet:101005"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 25" EXACT [DOID:0110776] -synonym: "autosomal recessive spastic paraplegia type 25" EXACT [DOID:0110776] +synonym: "autosomal recessive spastic paraplegia type 25" EXACT [DOID:0110776, Orphanet:101005] synonym: "autosomal recessive spastic paraplegia-disc herniation syndrome" EXACT [Orphanet:101005] -synonym: "Disc herniation with spastic paraplegia, autosomal recessive" RELATED [OMIM:608220] -synonym: "hereditary spastic paraplegia type 25" EXACT [DOID:0110776, MONDORULE:2] +synonym: "Disc herniation with spastic paraplegia, autosomal recessive" RELATED [] +synonym: "hereditary spastic paraplegia type 25" EXACT [MONDORULE:2] synonym: "spastic paraplegia 25" RELATED [GARD:0009582] -synonym: "spastic paraplegia 25, autosomal recessive" RELATED [MONDO:Lexical, OMIM:608220] +synonym: "spastic paraplegia 25, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG25" EXACT ABBREVIATION [DOID:0110776, MONDO:Lexical, OMIM:608220, Orphanet:101005] synonym: "spinal disc herniation with autosomal recessive spastic paraplegia" RELATED OMO:0003005 [] synonym: "spinal disk herniation with autosomal recessive spastic paraplegia" RELATED [GARD:0009582] @@ -272073,8 +272121,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0011993 name: aspirin resistance synonym: "aspirin resistance" EXACT [OMIM:608223] -synonym: "aspirin, resistance to Antithrombotic Effect of" RELATED [OMIM:608223] -synonym: "aspirin, resistance to Cardioprotective Effect of" RELATED [OMIM:608223] +synonym: "aspirin, resistance to Antithrombotic Effect of" RELATED [] +synonym: "aspirin, resistance to Cardioprotective Effect of" RELATED [] xref: MEDGEN:330835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608223 {source="MONDO:equivalentTo"} xref: UMLS:C1842372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:330835"} @@ -272087,13 +272135,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18121", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 41" NARROW [DOID:0110567] -synonym: "autosomal dominant nonsyndromic deafness 41" NARROW [OMIM:608224] +synonym: "autosomal dominant deafness 41" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 41" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in P2RX2" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 41" NARROW [DOID:0110567, MONDORULE:2] -synonym: "deafness, autosomal dominant 41" NARROW [MONDO:Lexical, OMIM:608224, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 41" NARROW [MONDORULE:2, OMIM:608224] -synonym: "DFNA41" NARROW ABBREVIATION [DOID:0110567, MONDO:Lexical, OMIM:608224] +synonym: "autosomal dominant nonsyndromic deafness type 41" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 41" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 41" NARROW [MONDORULE:2] +synonym: "DFNA41" NARROW ABBREVIATION [MONDO:Lexical] synonym: "P2RX2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110567 {source="MONDO:equivalentTo"} xref: GARD:18121 {source="MONDO:GARD"} @@ -272119,8 +272167,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:314993"} subset: orphanet_rare {source="Orphanet:314993"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability" RELATED [OMIM:608227] -synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation" RELATED DEPRECATED [OMIM:608227] +synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability" RELATED [] +synonym: "craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation" RELATED DEPRECATED [] xref: GARD:17440 {source="MONDO:GARD"} xref: MEDGEN:330832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564271 {source="MONDO:equivalentTo"} @@ -272143,28 +272191,28 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BCR-ABL Positive chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "BCR-ABL Positive chronic myelogenous leukemia" EXACT [NCIT:C3174] -synonym: "chronic granulocytic leukaemia" EXACT OMO:0003005 [] +synonym: "chronic granulocytic leukaemia" EXACT OMO:0003005 [DOID:8552] synonym: "chronic granulocytic leukemia" EXACT [DOID:8552, NCIT:C3174, Orphanet:521] synonym: "chronic myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "chronic myelocytic leukemia" EXACT [NCIT:C3174] -synonym: "chronic myelogenous leukaemia" EXACT OMO:0003005 [] +synonym: "chronic myelogenous leukaemia" EXACT OMO:0003005 [DOID:8552] synonym: "chronic myelogenous leukaemia (CML)" EXACT OMO:0003005 [] synonym: "chronic myelogenous leukemia" EXACT [DOID:8552, NCIT:C3174, Orphanet:521] synonym: "chronic myelogenous leukemia (CML)" EXACT [NCIT:C3174] -synonym: "chronic myelogenous leukemia, BCR-ABL1 Positive" EXACT [NCIT:C3174] +synonym: "chronic myelogenous leukemia, BCR-ABL1 Positive" EXACT [DOID:0081088, NCIT:C3174] synonym: "chronic myelogenous leukemias" EXACT [NCIT:C3174] -synonym: "chronic myeloid leukaemia" EXACT OMO:0003005 [] -synonym: "chronic myeloid leukemia" EXACT [DOID:8552, NCIT:C3174] +synonym: "chronic myeloid leukaemia" EXACT OMO:0003005 [DOID:8552] +synonym: "chronic myeloid leukemia" EXACT [DOID:8552, NCIT:C3174, Orphanet:521] synonym: "CML" EXACT ABBREVIATION [DOID:8552, MONDO:Lexical, NCIT:C3174, OMIM:608232, Orphanet:521] synonym: "CML - chronic myelogenous leukaemia" EXACT OMO:0003005 [] synonym: "CML - chronic myelogenous leukemia" EXACT [DOID:8552, NCIT:C3174] synonym: "hematopoeitic - chronic myelocytic leukaemia (CML)" EXACT OMO:0003005 [] synonym: "hematopoeitic - chronic myelocytic leukemia (CML)" EXACT [NCIT:C3174] -synonym: "leukemia, chronic myelogenous" RELATED [OMIM:608232] -synonym: "leukemia, chronic myeloid" RELATED [MONDO:Lexical, OMIM:608232] -synonym: "leukemia, chronic myeloid, atypical" RELATED [OMIM:608232] -synonym: "leukemia, chronic myeloid, Philadelphia chromosome positive, somatic" EXACT [OMIM:608232, OMIM:genemap2] -synonym: "leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation" EXACT [OMIM:608232, OMIM:genemap2] +synonym: "leukemia, chronic myelogenous" RELATED [] +synonym: "leukemia, chronic myeloid" RELATED [MONDO:Lexical] +synonym: "leukemia, chronic myeloid, atypical" RELATED [] +synonym: "leukemia, chronic myeloid, Philadelphia chromosome positive, somatic" EXACT [] +synonym: "leukemia, Philadelphia chromosome-positive, resistant to imatinib, Somatic mutation" EXACT [] synonym: "myeloid leukemia, chronic" EXACT [DOID:8552, MONDO:patterns/chronic, MTH:NOCODE] xref: DOID:0081088 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:8552 {source="MONDO:equivalentTo", source="EFO:0000339"} @@ -272208,12 +272256,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AP3B1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hermansky Pudlak syndrome 2" RELATED [GARD:0009435] -synonym: "Hermansky-Pudlak syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608233] +synonym: "Hermansky-Pudlak syndrome 2" EXACT CLINGEN_LABEL [DOID:0060540, MONDO:Lexical, NCIT:C150368, OMIM:608233] synonym: "Hermansky-Pudlak syndrome caused by mutation in AP3B1" EXACT [MONDO:design_pattern] -synonym: "Hermansky-Pudlak syndrome type 2" EXACT [DOID:0060540, MONDORULE:1, OMIM:608233, Orphanet:183678] -synonym: "Hermansky-Pudlak syndrome with neutropenia" RELATED [Orphanet:183678] -synonym: "HPS-2" EXACT ABBREVIATION [Orphanet:183678] -synonym: "HPS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608233, Orphanet:183678] +synonym: "Hermansky-Pudlak syndrome type 2" EXACT [MONDORULE:1, Orphanet:664500] +synonym: "Hermansky-Pudlak syndrome with neutropenia" RELATED [] +synonym: "HPS-2" EXACT ABBREVIATION [] +synonym: "HPS2" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C150368, OMIM:608233, Orphanet:664500] synonym: "Platelet defects and oculocutaneous albinism" RELATED [GARD:0009435] xref: DOID:0060540 {source="MONDO:equivalentTo"} xref: GARD:15026 {source="MONDO:GARD"} @@ -272247,10 +272295,10 @@ subset: ordo_disorder {source="Orphanet:140481"} subset: orphanet_rare {source="Orphanet:140481"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant slowed nerve conduction velocity" EXACT CLINGEN_LABEL [] -synonym: "slowed nerve conduction velocity, AD" EXACT [OMIM:608236, OMIM:genemap2] -synonym: "slowed nerve conduction velocity, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608236] -synonym: "SNCV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608236] +synonym: "autosomal dominant slowed nerve conduction velocity" EXACT CLINGEN_LABEL [Orphanet:140481] +synonym: "slowed nerve conduction velocity, AD" EXACT [] +synonym: "slowed nerve conduction velocity, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "SNCV" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16962 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:140481/attributed", source="Orphanet:140481/ntbt", source="Orphanet:140481"} xref: MEDGEN:330829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -272272,8 +272320,8 @@ id: MONDO:0011999 name: otosclerosis 3 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "otosclerosis 3" EXACT [MONDO:Lexical, OMIM:608244] -synonym: "OTSC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608244] +synonym: "otosclerosis 3" EXACT [DOID:0060922, MONDO:Lexical, OMIM:608244] +synonym: "OTSC3" EXACT ABBREVIATION [DOID:0060922, MONDO:Lexical, OMIM:608244] xref: DOID:0060922 {source="MONDO:equivalentTo"} xref: MEDGEN:334054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564268 {source="MONDO:equivalentTo"} @@ -272288,9 +272336,9 @@ id: MONDO:0012000 name: specific phobia def: "An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "phobia, simple" RELATED [OMIM:608251] -synonym: "phobia, specific" RELATED [OMIM:608251] -synonym: "simple phobia" EXACT [DOID:599] +synonym: "phobia, simple" RELATED [] +synonym: "phobia, specific" RELATED [] +synonym: "simple phobia" EXACT [DOID:599, icd11.foundation:239513569] xref: DOID:599 {source="MONDO:equivalentTo"} xref: EFO:1001918 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F40.2 {source="DOID:599"} @@ -272323,11 +272371,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22607", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 40" NARROW [DOID:0110499] -synonym: "autosomal recessive nonsyndromic deafness 40" NARROW [OMIM:608264] -synonym: "autosomal recessive nonsyndromic deafness type 40" NARROW [DOID:0110499, MONDORULE:2] -synonym: "deafness, autosomal recessive 40" NARROW [MONDO:Lexical, OMIM:608264, OMIM:genemap2] -synonym: "DFNB40" NARROW ABBREVIATION [DOID:0110499, MONDO:Lexical, OMIM:608264] +synonym: "autosomal recessive deafness 40" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 40" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 40" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 40" NARROW [MONDO:Lexical] +synonym: "DFNB40" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110499 {source="MONDO:equivalentTo"} xref: GARD:22607 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110499"} @@ -272347,14 +272395,14 @@ def: "An autosomal recessive disorder caused by mutations in the HGF gene, encod subset: gard_rare {source="GARD:22608", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 39" NARROW [DOID:0110497] -synonym: "autosomal recessive nonsyndromic deafness 39" NARROW [OMIM:608265] +synonym: "autosomal recessive deafness 39" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 39" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in HGF" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 39" NARROW [DOID:0110497, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 39" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 39" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 39" NARROW [MONDO:Lexical, OMIM:608265, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 39" NARROW [MONDORULE:2, OMIM:608265] -synonym: "DFNB39" NARROW ABBREVIATION [DOID:0110497, MONDO:Lexical, OMIM:608265] +synonym: "deafness, autosomal recessive 39" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 39" NARROW [MONDORULE:2] +synonym: "DFNB39" NARROW ABBREVIATION [MONDO:Lexical] synonym: "HGF autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110497 {source="MONDO:equivalentTo"} xref: GARD:22608 {source="MONDO:GARD"} @@ -272385,27 +272433,27 @@ synonym: "adenocarcinoma of parathyroid" EXACT [NCIT:C4906] synonym: "adenocarcinoma of parathyroid gland" EXACT [NCIT:C4906] synonym: "adenocarcinoma of the parathyroid" EXACT [NCIT:C4906] synonym: "adenocarcinoma of the parathyroid gland" EXACT [NCIT:C4906] -synonym: "cancer of parathyroid gland" BROAD [NCIT:C4906] -synonym: "cancer of the parathyroid gland" BROAD [NCIT:C4906] +synonym: "cancer of parathyroid gland" BROAD [] +synonym: "cancer of the parathyroid gland" BROAD [] synonym: "carcinoma of parathyroid" EXACT [NCIT:C4906] synonym: "carcinoma of parathyroid gland" EXACT [DOID:1540, MONDO:patterns/carcinoma, NCIT:C4906] synonym: "carcinoma of the parathyroid" EXACT [NCIT:C4906] synonym: "carcinoma of the parathyroid gland" EXACT [NCIT:C4906] -synonym: "malignant neoplasm of parathyroid gland" BROAD [DOID:1540, ICD9CM:194.1] -synonym: "malignant neoplasm of the parathyroid" BROAD [DOID:1540, NCIT:C9322] -synonym: "malignant tumor of parathyroid gland" BROAD EXCLUDE [DOID:1540] +synonym: "malignant neoplasm of parathyroid gland" BROAD [ICD9CM:194.1] +synonym: "malignant neoplasm of the parathyroid" BROAD [] +synonym: "malignant tumor of parathyroid gland" BROAD EXCLUDE [] synonym: "malignant tumour of parathyroid gland" BROAD OMO:0003005 [] -synonym: "neoplasm of parathyroid gland" BROAD EXCLUDE [DOID:1540] +synonym: "neoplasm of parathyroid gland" BROAD EXCLUDE [] synonym: "parathyroid adenocarcinoma" EXACT [NCIT:C4906] -synonym: "parathyroid cancer" BROAD [NCIT:C4906] -synonym: "parathyroid cancer, NOS" BROAD EXCLUDE [NCIT:C4906] -synonym: "parathyroid carcinoma" EXACT [NCIT:C4906, OMIM:608266] -synonym: "parathyroid gland adenocarcinoma" EXACT [DOID:1540, NCIT:C4906] -synonym: "parathyroid gland cancer" BROAD [DOID:1540, NCIT:C4906] +synonym: "parathyroid cancer" BROAD [] +synonym: "parathyroid cancer, NOS" BROAD EXCLUDE [] +synonym: "parathyroid carcinoma" EXACT [DOID:1540, NCIT:C4906, OMIM:608266, Orphanet:143] +synonym: "parathyroid gland adenocarcinoma" EXACT [NCIT:C4906] +synonym: "parathyroid gland cancer" BROAD [] synonym: "parathyroid gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C4906] -synonym: "parathyroid gland neoplasm" BROAD [DOID:1540, NCIT:C3313] -synonym: "parathyroid neoplasm" BROAD [DOID:1540] -synonym: "PRTC" RELATED ABBREVIATION [OMIM:608266] +synonym: "parathyroid gland neoplasm" BROAD [] +synonym: "parathyroid neoplasm" BROAD [] +synonym: "PRTC" RELATED ABBREVIATION [] xref: DOID:1540 {source="MONDO:equivalentTo"} xref: EFO:1000456 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7329 {source="MONDO:GARD"} @@ -272436,7 +272484,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012005 name: growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy -synonym: "growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" EXACT [OMIM:608278] +synonym: "growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" EXACT [] synonym: "growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy" EXACT DEPRECATED [OMIM:608278] xref: MEDGEN:330820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564264 {source="MONDO:equivalentTo"} @@ -272459,7 +272507,7 @@ is_a: MONDO:0015469 {source="DC-OMIM:600775", source="MESH:C564263"} ! craniosyn [Term] id: MONDO:0012007 name: scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities -synonym: "anomalous pulmonary Venous return, multiple Cardiac malformations, and craniofacial and central nervous system abnormalities" RELATED [OMIM:608281] +synonym: "anomalous pulmonary Venous return, multiple Cardiac malformations, and craniofacial and central nervous system abnormalities" RELATED [] synonym: "scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities" EXACT [OMIM:608281] xref: MEDGEN:331265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564262 {source="MONDO:equivalentTo"} @@ -272478,9 +272526,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:140936"} subset: orphanet_rare {source="Orphanet:140936"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectodermal dysplasia, hypohidrotic, with acanthosis nigricans" RELATED [OMIM:608290] +synonym: "ectodermal dysplasia, hypohidrotic, with acanthosis nigricans" RELATED [] synonym: "ectodermal dysplasia-acanthosis nigricans syndrome" EXACT [Orphanet:140936] -synonym: "Lelis syndrome" EXACT [OMIM:608290] +synonym: "Lelis syndrome" EXACT [OMIM:608290, Orphanet:140936] xref: GARD:10367 {source="MONDO:GARD"} xref: MEDGEN:334042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564261 {source="MONDO:equivalentTo"} @@ -272495,9 +272543,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10367/lelis- id: MONDO:0012009 name: coronary heart disease, susceptibility to, 2 subset: predisposition -synonym: "Chds2" RELATED [OMIM:608316] +synonym: "Chds2" RELATED [] synonym: "coronary heart disease, susceptibility to, 2" EXACT [OMIM:608316] -synonym: "coronary heart disease, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608316] +synonym: "coronary heart disease, susceptibility to, type 2" EXACT [MONDORULE:1] xref: MEDGEN:330807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608316 {source="MONDO:equivalentTo"} xref: UMLS:C1842260 {source="MEDGEN:330807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -272511,9 +272559,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012010 name: coronary heart disease, susceptibility to, 4 subset: predisposition -synonym: "Chds4" RELATED [OMIM:608318] +synonym: "Chds4" RELATED [] synonym: "coronary heart disease, susceptibility to, 4" EXACT [OMIM:608318] -synonym: "coronary heart disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608318] +synonym: "coronary heart disease, susceptibility to, type 4" EXACT [MONDORULE:1] xref: MEDGEN:374891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608318 {source="MONDO:equivalentTo"} xref: UMLS:C1842258 {source="MEDGEN:374891", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -272527,11 +272575,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012011 name: coronary artery disease, autosomal dominant, 1 def: "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." [MONDO:patterns/disease_series_by_gene] -synonym: "ADCAD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608320] +synonym: "ADCAD1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "coronary artery disease caused by mutation in MEF2A" EXACT [MONDO:design_pattern] -synonym: "coronary artery disease with myocardial infarction" RELATED [OMIM:608320] +synonym: "coronary artery disease with myocardial infarction" RELATED [] synonym: "coronary artery disease, autosomal dominant, 1" EXACT [MONDO:Lexical, OMIM:608320] -synonym: "coronary artery disease, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:608320] +synonym: "coronary artery disease, autosomal dominant, type 1" EXACT [MONDORULE:1] synonym: "MEF2A coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:330802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564258 {source="MONDO:equivalentTo"} @@ -272553,16 +272601,16 @@ subset: ordo_disorder {source="Orphanet:100045"} subset: orphanet_rare {source="Orphanet:100045"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110199] +synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110199, Orphanet:100045] synonym: "Charcot-Marie-Tooth disease caused by mutation in YARS" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease dominant intermediate type C" EXACT [DOID:0110199, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, dominant intermediate C" RELATED [MONDO:Lexical, OMIM:608323] -synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type C" EXACT [MONDORULE:1, OMIM:608323] +synonym: "Charcot-Marie-Tooth disease dominant intermediate type C" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, dominant intermediate C" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type C" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth neuropathy dominant intermediate C" EXACT [DOID:0110199] -synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate C" RELATED [OMIM:608323] +synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate C" RELATED [] synonym: "CMTDIC" EXACT ABBREVIATION [DOID:0110199, MONDO:Lexical, OMIM:608323, Orphanet:100045] -synonym: "DI-CMTC" EXACT [DOID:0110199] -synonym: "Di-Cmtc" RELATED [OMIM:608323] +synonym: "DI-CMTC" EXACT ABBREVIATION [DOID:0110199, OMIM:608323] +synonym: "Di-Cmtc" RELATED [] synonym: "YARS Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "YARS-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012439] xref: DOID:0110199 {source="MONDO:equivalentTo"} @@ -272595,10 +272643,10 @@ synonym: "GEMSS" EXACT ABBREVIATION [GARD:0002452] synonym: "GEMSS syndrome" EXACT [Orphanet:2084] synonym: "glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome" EXACT [GARD:0002452] synonym: "glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome" EXACT [OMIM:608328] -synonym: "mesodermal Dysmorphodystrophy, congenital" BROAD [OMIM:608328] -synonym: "spherophakia-brachymorphia syndrome" BROAD [OMIM:608328] +synonym: "mesodermal Dysmorphodystrophy, congenital" BROAD [] +synonym: "spherophakia-brachymorphia syndrome" BROAD [] synonym: "Weill-Marchesani syndrome 2" EXACT [MONDO:Lexical, OMIM:608328] -synonym: "Weill-Marchesani syndrome type 2" EXACT [MONDORULE:1, OMIM:608328] +synonym: "Weill-Marchesani syndrome type 2" EXACT [MONDORULE:1] synonym: "Weill-Marchesani syndrome, autosomal dominant" EXACT [OMIM:608328] synonym: "WMS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608328] xref: GARD:2452 {source="MONDO:GARD"} @@ -272624,19 +272672,19 @@ subset: ordo_disorder {source="Orphanet:217055"} subset: orphanet_rare {source="Orphanet:217055"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110201] +synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110201, Orphanet:217055] synonym: "Charcot-Marie-Tooth disease caused by mutation in GDAP1" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease recessive intermediate type A" EXACT [DOID:0110201, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, recessive intermediate A" RELATED [MONDO:Lexical, OMIM:608340] -synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type a" EXACT [MONDORULE:1, OMIM:608340] +synonym: "Charcot-Marie-Tooth disease recessive intermediate type A" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, recessive intermediate A" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type a" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, recessive intermediate, A" RELATED [GARD:0012453] synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate A" EXACT [DOID:0110201] -synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate a" RELATED [OMIM:608340] +synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate a" RELATED [] synonym: "CMTRIA" EXACT ABBREVIATION [DOID:0110201, MONDO:Lexical, OMIM:608340] synonym: "GDAP1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RI-CMT type A" EXACT [Orphanet:217055] -synonym: "RI-CMTA" EXACT [DOID:0110201] -synonym: "Ri-Cmta" RELATED [OMIM:608340] +synonym: "RI-CMTA" EXACT ABBREVIATION [DOID:0110201, OMIM:608340] +synonym: "Ri-Cmta" RELATED [] xref: DOID:0110201 {source="MONDO:equivalentTo"} xref: GARD:12453 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:217055/attributed", source="Orphanet:217055/ntbt", source="Orphanet:217055"} @@ -272654,8 +272702,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012015 name: nystagmus 3, congenital, autosomal dominant -synonym: "NYS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608345] -synonym: "NYSTAGMUS 3, congenital, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608345] +synonym: "NYS3" EXACT ABBREVIATION [DOID:0111793, MONDO:Lexical, OMIM:608345] +synonym: "NYSTAGMUS 3, congenital, autosomal dominant" RELATED [MONDO:Lexical] xref: DOID:0111793 {source="MONDO:equivalentTo"} xref: MEDGEN:374873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537855 {source="MONDO:equivalentTo"} @@ -272675,11 +272723,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:137667"} subset: orphanet_rare {source="Orphanet:137667"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "capillary malformation without arteriovenous malformation" RELATED [OMIM:608354] -synonym: "capillary malformation-arteriovenous malformation" RELATED [MONDO:Lexical, OMIM:608354] -synonym: "CM-AVM" EXACT [Orphanet:137667] +synonym: "capillary malformation without arteriovenous malformation" RELATED [] +synonym: "capillary malformation-arteriovenous malformation" RELATED [MONDO:Lexical] +synonym: "CM-AVM" EXACT ABBREVIATION [NCIT:C179668, Orphanet:137667] synonym: "CM-AVM syndrome" RELATED [GARD:0011904] -synonym: "CMAVM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608354] +synonym: "CMAVM" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:11904 {source="MONDO:GARD"} xref: ICD10CM:Q27.3 {source="Orphanet:137667/attributed", source="Orphanet:137667/ntbt", source="Orphanet:137667"} xref: ICD9:747.69 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -272722,9 +272770,9 @@ subset: ordo_disorder {source="Orphanet:93283"} subset: orphanet_rare {source="Orphanet:93283"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SEDK" RELATED ABBREVIATION [OMIM:608361] -synonym: "Sedk" RELATED [OMIM:608361] -synonym: "spondyloepiphyseal dysplasia, Kimberley type" EXACT [OMIM:608361] +synonym: "SEDK" RELATED ABBREVIATION [] +synonym: "Sedk" RELATED [] +synonym: "spondyloepiphyseal dysplasia, Kimberley type" EXACT [icd11.foundation:485470320, OMIM:608361, Orphanet:93283] xref: DOID:0112282 {source="MONDO:equivalentTo"} xref: GARD:16814 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93283/attributed", source="Orphanet:93283/ntbt", source="Orphanet:93283"} @@ -272753,14 +272801,14 @@ subset: rare synonym: "22q11 duplication syndrome" EXACT [DECIPHER:32] synonym: "22q11.2 duplication" RELATED [GARD:0010557] synonym: "22q11.2 duplication syndrome" RELATED [GARD:0010557] -synonym: "22q11.2 microduplication syndrome" EXACT [DOID:0060436, GARD:0010557] -synonym: "chromosome 22q11.2 DUPLICATION syndrome" RELATED [OMIM:608363] +synonym: "22q11.2 microduplication syndrome" EXACT [DOID:0060436, GARD:0010557, Orphanet:1727] +synonym: "chromosome 22q11.2 DUPLICATION syndrome" RELATED [] synonym: "chromosome 22q11.2 duplication syndrome" RELATED [GARD:0010557] -synonym: "chromosome 22q11.2 microduplication syndrome" EXACT [OMIM:608363] -synonym: "chromosome 22q11.2 microduplication syndrome, isolated cases" EXACT [OMIM:608363, OMIM:genemap2] +synonym: "chromosome 22q11.2 microduplication syndrome" EXACT [DOID:0060436, OMIM:608363] +synonym: "chromosome 22q11.2 microduplication syndrome, isolated cases" EXACT [] synonym: "dup(22)(q11)" EXACT [Orphanet:1727] -synonym: "Duplication 22q11.2" EXACT [Orphanet:1727] -synonym: "duplication 22q11.2" EXACT [DOID:0060436] +synonym: "Duplication 22q11.2" EXACT [DOID:0060436, Orphanet:1727] +synonym: "duplication 22q11.2" EXACT [DOID:0060436, Orphanet:1727] synonym: "trisomy 22q11.2" EXACT [DOID:0060436, Orphanet:1727] xref: DECIPHER:32 {source="MONDO:equivalentTo"} xref: DOID:0060436 {source="MONDO:equivalentTo"} @@ -272784,8 +272832,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10557/22q112 id: MONDO:0012021 name: myopia 17, autosomal dominant synonym: "myopia 17, autosomal dominant" EXACT [MONDO:Lexical, OMIM:608367] -synonym: "myopia 4" RELATED [OMIM:608367] -synonym: "myopia 4, formerly" RELATED [OMIM:608367] +synonym: "myopia 4" RELATED [] +synonym: "myopia 4, formerly" RELATED [] synonym: "MYP17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608367] xref: MEDGEN:854818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608367 {source="MONDO:equivalentTo"} @@ -272796,9 +272844,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0012022 name: orofacial cleft 4 -synonym: "cleft lip with or without cleft palate, nonsyndromic, 4" RELATED [OMIM:608371] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 4" RELATED [] synonym: "OFC4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608371] -synonym: "orofacial cleft 4" EXACT [MONDO:Lexical, OMIM:608371] +synonym: "orofacial cleft 4" EXACT [DOID:0080398, MONDO:Lexical, OMIM:608371] xref: DOID:0080398 {source="MONDO:equivalentTo"} xref: MEDGEN:331228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564251 {source="MONDO:equivalentTo"} @@ -272815,11 +272863,11 @@ def: "An autosomal dominant nonsyndromic deafness that is characterized by moder subset: gard_rare {source="GARD:18122", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 49" NARROW [DOID:0110572] -synonym: "autosomal dominant nonsyndromic deafness 49" NARROW [OMIM:608372] -synonym: "autosomal dominant nonsyndromic deafness type 49" NARROW [DOID:0110572, MONDORULE:2] -synonym: "deafness, autosomal dominant 49" NARROW [MONDO:Lexical, OMIM:608372, OMIM:genemap2] -synonym: "DFNA49" NARROW ABBREVIATION [DOID:0110572, MONDO:Lexical, OMIM:608372] +synonym: "autosomal dominant deafness 49" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 49" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 49" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 49" NARROW [MONDO:Lexical] +synonym: "DFNA49" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110572 {source="MONDO:equivalentTo"} xref: GARD:18122 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110572"} @@ -272839,9 +272887,9 @@ subset: gard_rare {source="GARD:10397", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CERKL retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 26" EXACT [MONDO:Lexical, OMIM:608380] +synonym: "retinitis pigmentosa 26" EXACT [DOID:0110368, MONDO:Lexical, OMIM:608380] synonym: "retinitis pigmentosa caused by mutation in CERKL" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 26" EXACT [DOID:0110368, MONDORULE:2, OMIM:608380] +synonym: "retinitis pigmentosa type 26" EXACT [MONDORULE:2] synonym: "RP 26" RELATED [GARD:0010397] synonym: "RP26" EXACT ABBREVIATION [DOID:0110368, MONDO:Lexical, OMIM:608380] xref: DOID:0110368 {source="MONDO:equivalentTo"} @@ -272867,11 +272915,11 @@ def: "Any branchiootic syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:15430", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "bo syndrome 3" RELATED [OMIM:608389] -synonym: "BOS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608389] +synonym: "bo syndrome 3" RELATED [] +synonym: "BOS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "branchiootic syndrome 3" EXACT [MONDO:Lexical, OMIM:608389] synonym: "branchiootic syndrome caused by mutation in SIX1" EXACT [MONDO:design_pattern] -synonym: "branchiootic syndrome type 3" EXACT [MONDORULE:1, OMIM:608389] +synonym: "branchiootic syndrome type 3" EXACT [MONDORULE:1] synonym: "SIX1 branchiootic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15430 {source="MONDO:GARD"} xref: MEDGEN:333995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -272895,9 +272943,9 @@ id: MONDO:0012027 name: autoimmune disease, susceptibility to, 2 subset: predisposition synonym: "AIS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608391] -synonym: "autoimmune disease susceptibility locus, chromosome 7-related" RELATED [OMIM:608391] +synonym: "autoimmune disease susceptibility locus, chromosome 7-related" RELATED [] synonym: "autoimmune disease, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:608391] -synonym: "vitiligo-associated multiple autoimmune disease susceptibility 3" RELATED [OMIM:608391] +synonym: "vitiligo-associated multiple autoimmune disease susceptibility 3" RELATED [] xref: MEDGEN:331217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608391 {source="MONDO:equivalentTo"} xref: Orphanet:247871 {source="OMIM:608391"} @@ -272912,9 +272960,9 @@ id: MONDO:0012028 name: autoimmune disease, susceptibility to, 3 subset: predisposition synonym: "AIS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608392] -synonym: "autoimmune disease susceptibility locus, chromosome 8-related" RELATED [OMIM:608392] +synonym: "autoimmune disease susceptibility locus, chromosome 8-related" RELATED [] synonym: "autoimmune disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608392] -synonym: "vitiligo-associated multiple autoimmune disease susceptibility 4" RELATED [OMIM:608392] +synonym: "vitiligo-associated multiple autoimmune disease susceptibility 4" RELATED [] xref: MEDGEN:333993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608392 {source="MONDO:equivalentTo"} xref: Orphanet:247871 {source="OMIM:608392"} @@ -272932,7 +272980,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive primary microcephaly caused by mutation in CENPJ" EXACT [MONDO:design_pattern] synonym: "CENPJ autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MCPH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608393] +synonym: "MCPH6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 6, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608393] xref: DOID:0070290 {source="MONDO:equivalentTo"} xref: GARD:15431 {source="MONDO:GARD"} @@ -272952,11 +273000,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18123", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 43" NARROW [DOID:0110568] -synonym: "autosomal dominant nonsyndromic deafness 43" NARROW [OMIM:608394] -synonym: "autosomal dominant nonsyndromic deafness type 43" NARROW [DOID:0110568, MONDORULE:2] -synonym: "deafness, autosomal dominant 43" NARROW [MONDO:Lexical, OMIM:608394, OMIM:genemap2] -synonym: "DFNA43" NARROW ABBREVIATION [DOID:0110568, MONDO:Lexical, OMIM:608394] +synonym: "autosomal dominant deafness 43" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 43" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 43" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 43" NARROW [MONDO:Lexical] +synonym: "DFNA43" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110568 {source="MONDO:equivalentTo"} xref: GARD:18123 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110568"} @@ -272977,13 +273025,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDPLT10" EXACT ABBREVIATION [DOID:0111046] -synonym: "bleeding disorder, Platelet-type, 10" RELATED [OMIM:608404] -synonym: "CD36 deficiency" EXACT [DOID:0111046] +synonym: "bleeding disorder, Platelet-type, 10" RELATED [] +synonym: "CD36 deficiency" EXACT [DOID:0111046, OMIM:608404] synonym: "CD36 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "inherited bleeding disorder, platelet-type caused by mutation in CD36" EXACT [MONDO:design_pattern] -synonym: "platelet glycoprotein 4 deficiency" RELATED [OMIM:608404] +synonym: "platelet glycoprotein 4 deficiency" RELATED [] synonym: "platelet glycoprotein IV deficiency" EXACT [DOID:0111046] -synonym: "platelet-type bleeding disorder 10" EXACT CLINGEN_LABEL [] +synonym: "platelet-type bleeding disorder 10" EXACT CLINGEN_LABEL [DOID:0111046] xref: DOID:0111046 {source="MONDO:equivalentTo"} xref: MEDGEN:374856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564245 {source="MONDO:equivalentTo"} @@ -273006,7 +273054,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:52047"} subset: orphanet_rare {source="Orphanet:52047"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency" RELATED [OMIM:608406] +synonym: "VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency" RELATED [] synonym: "Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency" EXACT [Orphanet:52047] xref: GARD:16652 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:52047/attributed", source="Orphanet:52047/ntbt", source="Orphanet:52047"} @@ -273031,9 +273079,9 @@ subset: ordo_disorder {source="Orphanet:75374"} subset: orphanet_rare {source="Orphanet:75374"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bradyopsia" EXACT CLINGEN_LABEL [OMIM:608415] -synonym: "PERRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608415, Orphanet:75374] -synonym: "prolonged electroretinal response suppression" EXACT [DOID:0050335, MONDO:Lexical, OMIM:608415, Orphanet:75374] +synonym: "bradyopsia" EXACT CLINGEN_LABEL [DOID:0050335, icd11.foundation:1497247503, Orphanet:75374] +synonym: "PERRS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:75374] +synonym: "prolonged electroretinal response suppression" EXACT [DOID:0050335, MONDO:Lexical, OMIMPS:608415, Orphanet:75374] xref: DOID:0050335 {source="MONDO:equivalentTo"} xref: GARD:12299 {source="MONDO:GARD"} xref: ICD10CM:H53.8 {source="Orphanet:75374/attributed", source="Orphanet:75374/ntbt", source="Orphanet:75374"} @@ -273062,11 +273110,11 @@ subset: ordo_disorder {source="Orphanet:55595"} subset: orphanet_rare {source="Orphanet:55595"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LGMD1F" EXACT ABBREVIATION [DOID:0110304, MONDO:Lexical, OMIM:608423, Orphanet:55595] +synonym: "LGMD1F" EXACT ABBREVIATION [DOID:0110304, MONDO:Lexical, Orphanet:55595] synonym: "limb-girdle muscular dystrophy type 1F" RELATED [GARD:0012530] synonym: "muscular dystrophy limb-girdle type 1F" EXACT [DOID:0110304] -synonym: "muscular dystrophy, limb-girdle, autosomal dominant 2" EXACT [OMIM:608423, OMIM:genemap2] -synonym: "muscular dystrophy, limb-girdle, type 1F" RELATED [MONDO:Lexical, OMIM:608423] +synonym: "muscular dystrophy, limb-girdle, autosomal dominant 2" EXACT [OMIM:608423] +synonym: "muscular dystrophy, limb-girdle, type 1F" RELATED [MONDO:Lexical] xref: DOID:0110304 {source="MONDO:equivalentTo"} xref: GARD:12530 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="DOID:0110304", source="Orphanet:55595/ntbt", source="Orphanet:55595/inclusion", source="Orphanet:55595"} @@ -273089,7 +273137,7 @@ subset: ordo_disorder {source="Orphanet:52054"} subset: ordo_malformation_syndrome {source="Orphanet:52054"} subset: orphanet_rare {source="Orphanet:52054"} subset: rare -synonym: "craniosynostosis, calcification of basal ganglia, and facial dysmorphism" RELATED [OMIM:608432] +synonym: "craniosynostosis, calcification of basal ganglia, and facial dysmorphism" RELATED [] synonym: "Longman-Tolmie syndrome" EXACT [Orphanet:52054] xref: GARD:16653 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:52054/attributed", source="Orphanet:52054/ntbt", source="Orphanet:52054"} @@ -273125,10 +273173,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A" EXACT [MONDO:design_pattern] synonym: "CC2D1A autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal recessive 3" EXACT [MONDO:Lexical, OMIM:608443] -synonym: "intellectual disability, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:608443] +synonym: "intellectual disability, autosomal recessive 3" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 3" EXACT [MONDORULE:1] synonym: "mental retardation, autosomal recessive 3" EXACT DEPRECATED [MONDO:Lexical, OMIM:608443] -synonym: "mental retardation, autosomal recessive type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:608443] +synonym: "mental retardation, autosomal recessive type 3" EXACT DEPRECATED [MONDORULE:1] synonym: "MRT3" EXACT DEPRECATED [MONDO:Lexical, OMIM:608443] xref: DOID:0081179 {source="MONDO:equivalentTo"} xref: GARD:22539 {source="MONDO:GARD"} @@ -273146,7 +273194,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012038 name: speech-sound disorder synonym: "speech-sound disorder" EXACT [OMIM:608445] -synonym: "SSD" RELATED ABBREVIATION [OMIM:608445] +synonym: "SSD" RELATED ABBREVIATION [] xref: MEDGEN:866372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563928 {source="MONDO:equivalentTo"} xref: OMIM:608445 {source="MONDO:equivalentTo"} @@ -273157,11 +273205,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012039 name: myocardial infarction, susceptibility to subset: predisposition -synonym: "myocardial infarction, decreased susceptibility to" EXACT [OMIM:608446, OMIM:genemap2] -synonym: "myocardial infarction, protection against" RELATED [OMIM:608446] +synonym: "myocardial infarction, decreased susceptibility to" EXACT [] +synonym: "myocardial infarction, protection against" RELATED [] synonym: "myocardial infarction, susceptibility to" EXACT [OMIM:608446] -synonym: "myocardial infarction, susceptibility to, 1" RELATED [OMIM:608446] -synonym: "susceptibility to myocardial infarction" RELATED [OMIM:608446] +synonym: "myocardial infarction, susceptibility to, 1" RELATED [] +synonym: "susceptibility to myocardial infarction" RELATED [] xref: MEDGEN:318680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608446 {source="MONDO:equivalentTo"} xref: UMLS:C1832662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:318680"} @@ -273174,8 +273222,8 @@ id: MONDO:0012040 name: inflammatory bowel disease 9 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26." [DOID:0110886, PMID:12354785] synonym: "IBD9" EXACT ABBREVIATION [DOID:0110886, MONDO:Lexical, OMIM:608448] -synonym: "inflammatory bowel disease 9" EXACT [MONDO:Lexical, OMIM:608448] -synonym: "inflammatory bowel disease type 9" EXACT [DOID:0110886, MONDORULE:1] +synonym: "inflammatory bowel disease 9" EXACT [DOID:0110886, MONDO:Lexical, OMIM:608448] +synonym: "inflammatory bowel disease type 9" EXACT [MONDORULE:1] xref: DOID:0110886 {source="MONDO:equivalentTo"} xref: MEDGEN:324926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563926 {source="MONDO:equivalentTo"} @@ -273199,17 +273247,17 @@ synonym: "adenomas, multiple colorectal, autosomal recessive" EXACT [OMIM:608456 synonym: "autosomal recessive familial adenomatous polyposis" RELATED [GARD:0010805] synonym: "autosomal recessive multiple colorectal adenomas" RELATED [GARD:0010805] synonym: "colorectal adenomatous polyposis, autosomal recessive" EXACT [OMIM:608456] -synonym: "familial adenomatous polyposis 2" EXACT [OMIM:608456] -synonym: "familial adenomatous polyposis, 2" EXACT [MONDO:Lexical, OMIM:608456] -synonym: "familial adenomatous polyposis, type 2" EXACT [MONDORULE:1, OMIM:608456] +synonym: "familial adenomatous polyposis 2" EXACT [DOID:0080410, OMIM:608456] +synonym: "familial adenomatous polyposis, 2" EXACT [MONDO:Lexical] +synonym: "familial adenomatous polyposis, type 2" EXACT [MONDORULE:1] synonym: "FAP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608456] synonym: "MAP" EXACT ABBREVIATION [NCIT:C96520] synonym: "MAP syndrome" RELATED [GARD:0010805] -synonym: "MUTYH-associated polyposis" EXACT [NCIT:C96520] +synonym: "MUTYH-associated polyposis" EXACT [DOID:0080410, NCIT:C96520] synonym: "MUTYH-related AFAP" EXACT [Orphanet:247798] -synonym: "MUTYH-related attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [Orphanet:247798] -synonym: "MUTYH-related attenuated familial polyposis coli" EXACT [Orphanet:247798] -synonym: "MUTYH-related attenuated FAP" EXACT [Orphanet:247798] +synonym: "MUTYH-related attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [DOID:0080410, Orphanet:247798] +synonym: "MUTYH-related attenuated familial polyposis coli" EXACT [DOID:0080410, Orphanet:247798] +synonym: "MUTYH-related attenuated FAP" EXACT [DOID:0080410, Orphanet:247798] synonym: "MYH-associated polyposis" RELATED [GARD:0010805] xref: DOID:0080410 {source="MONDO:equivalentTo"} xref: GARD:10805 {source="MONDO:GARD"} @@ -273257,23 +273305,23 @@ synonym: "anterior limiting membrane dystrophy type 1" EXACT [Orphanet:98961] synonym: "anterior limiting membrane dystrophy type I" EXACT [DOID:0060453, Orphanet:98961] synonym: "atypical granular corneal dystrophy" EXACT [Orphanet:98961] synonym: "CDB1" RELATED ABBREVIATION [GARD:0009276] -synonym: "CDRB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608470] +synonym: "CDRB" RELATED ABBREVIATION [MONDO:Lexical] synonym: "corneal dystrophy geographic" RELATED [GARD:0009276] synonym: "corneal dystrophy of Bowman layer type 1" EXACT [Orphanet:98961] synonym: "corneal dystrophy of Bowman layer type I" EXACT [DOID:0060453, Orphanet:98961] -synonym: "corneal dystrophy of Bowman Layer, type 1" RELATED [OMIM:608470] +synonym: "corneal dystrophy of Bowman Layer, type 1" RELATED [] synonym: "corneal dystrophy Reis Bucklers type" RELATED [GARD:0009276] -synonym: "corneal dystrophy, geographic" RELATED [OMIM:608470] -synonym: "corneal dystrophy, REIS-Bucklers type" RELATED [MONDO:Lexical, OMIM:608470] +synonym: "corneal dystrophy, geographic" RELATED [] +synonym: "corneal dystrophy, REIS-Bucklers type" RELATED [MONDO:Lexical] synonym: "geographic corneal dystrophy" EXACT [DOID:0060453, Orphanet:98961] synonym: "granular corneal dystrophy type 3" EXACT [Orphanet:98961] synonym: "granular corneal dystrophy type III" EXACT [DOID:0060453, Orphanet:98961] -synonym: "granular corneal dystrophy, type 3" RELATED [OMIM:608470] +synonym: "granular corneal dystrophy, type 3" RELATED [] synonym: "RBCD" EXACT ABBREVIATION [DOID:0060453, Orphanet:98961] synonym: "Reis Bucklers corneal dystrophy" RELATED [GARD:0009276] synonym: "Reis Bucklers dystrophy" RELATED [GARD:0009276] -synonym: "Reis-Bucklers corneal dystrophy" EXACT [OMIM:608470] -synonym: "Reis-Bücklers corneal dystrophy" RELATED [Orphanet:98961] +synonym: "Reis-Bucklers corneal dystrophy" EXACT [DOID:0060453, OMIM:608470] +synonym: "Reis-Bücklers corneal dystrophy" RELATED [] synonym: "superficial granular corneal dystrophy" EXACT [Orphanet:98961] xref: DOID:0060453 {source="MONDO:equivalentTo"} xref: GARD:9276 {source="MONDO:GARD"} @@ -273296,11 +273344,11 @@ def: "Lattice corneal dystrophy type 3A is rare condition that affects the corne subset: gard_rare {source="GARD:10320", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CDL3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608471] -synonym: "corneal dystrophy, lattice type IIIA" RELATED [MONDO:Lexical, OMIM:608471] +synonym: "CDL3A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "corneal dystrophy, lattice type IIIA" RELATED [MONDO:Lexical] synonym: "lattice corneal dystrophy type 3A" RELATED [GARD:0010320] synonym: "lattice corneal dystrophy type III A" RELATED [GARD:0010320] -synonym: "lattice corneal dystrophy, type 3A" RELATED [OMIM:608471] +synonym: "lattice corneal dystrophy, type 3A" RELATED [] xref: GARD:10320 {source="MONDO:GARD"} xref: MEDGEN:332989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563923 {source="MONDO:equivalentTo"} @@ -273330,7 +273378,7 @@ name: congenital corneal opacities, cornea guttata, and corectopia subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "congenital corneal opacities, cornea guttata, and corectopia" EXACT [OMIM:608484] -synonym: "corneal opacities, congenital, with cornea guttata and corectopia" RELATED [OMIM:608484] +synonym: "corneal opacities, congenital, with cornea guttata and corectopia" RELATED [] xref: MEDGEN:324911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563921 {source="MONDO:equivalentTo"} xref: OMIM:608484 {source="MONDO:equivalentTo"} @@ -273343,7 +273391,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012047 name: alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia -synonym: "alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia" RELATED [OMIM:608509] +synonym: "alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia" RELATED [] xref: MEDGEN:373853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563920 {source="MONDO:equivalentTo"} xref: OMIM:608509 {source="MONDO:equivalentTo"} @@ -273354,10 +273402,10 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0012048 name: endogenous depression def: "Depression which is considered strictly biological." [NCIT:P378] -synonym: "clinical depression" RELATED [DOID:1595] -synonym: "major depressive disorder" RELATED [MONDO:Lexical, OMIM:608516] -synonym: "MDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608516] -synonym: "unipolar depression" RELATED [DOID:1595, OMIM:608516] +synonym: "clinical depression" RELATED [] +synonym: "major depressive disorder" RELATED [MONDO:Lexical] +synonym: "MDD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "unipolar depression" RELATED [] xref: DOID:1595 {source="MONDO:equivalentTo"} xref: MEDGEN:3763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D003866 {source="DOID:1595"} @@ -273380,12 +273428,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "OFD7" EXACT ABBREVIATION [DOID:0060377, MONDO:Lexical, OMIM:608518] -synonym: "Ofds 7" RELATED [OMIM:608518] -synonym: "oral-Facial-digital syndrome, type 7" RELATED [OMIM:608518] -synonym: "orofaciodigital syndrome 7" RELATED [OMIM:608518] -synonym: "orofaciodigital syndrome type 7" EXACT [MONDORULE:1, OMIM:608518] -synonym: "orofaciodigital syndrome type VII" EXACT [DOID:0060377, MONDORULE:3] -synonym: "orofaciodigital syndrome VII" EXACT [MONDO:Lexical, OMIM:608518] +synonym: "Ofds 7" RELATED [] +synonym: "oral-Facial-digital syndrome, type 7" RELATED [] +synonym: "orofaciodigital syndrome 7" RELATED [] +synonym: "orofaciodigital syndrome type 7" EXACT [MONDORULE:1] +synonym: "orofaciodigital syndrome type VII" EXACT [MONDORULE:3] +synonym: "orofaciodigital syndrome VII" EXACT [DOID:0060377, MONDO:Lexical] synonym: "Whelan syndrome" EXACT [DOID:0060377, OMIM:608518] xref: DOID:0060377 {source="MONDO:equivalentTo"} xref: MEDGEN:162907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -273400,9 +273448,9 @@ id: MONDO:0012050 name: major depressive disorder 1 comment: OMIM reports one susceptibility locus for major depressive disorder (MDD1) has been mapped to chromosome 12q22-q23.2. synonym: "major depressive disorder 1" EXACT [OMIM:608520] -synonym: "major depressive disorder type 1" EXACT [MONDORULE:1, OMIM:608520] +synonym: "major depressive disorder type 1" EXACT [MONDORULE:1] synonym: "MDD1" EXACT ABBREVIATION [OMIM:608520] -synonym: "unipolar depression 1" RELATED [OMIM:608520] +synonym: "unipolar depression 1" RELATED [] xref: MEDGEN:325293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563919 {source="MONDO:equivalentTo"} xref: OMIM:608520 {source="MONDO:equivalentTo"} @@ -273418,7 +273466,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012051 name: periodontitis, aggressive, 2 synonym: "periodontitis, aggressive, 2" EXACT [OMIM:608526] -synonym: "periodontitis, aggressive, type 2" EXACT [MONDORULE:1, OMIM:608526] +synonym: "periodontitis, aggressive, type 2" EXACT [MONDORULE:1] xref: MEDGEN:370671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566946 {source="MONDO:equivalentTo"} xref: OMIM:608526 {source="MONDO:equivalentTo"} @@ -273440,13 +273488,13 @@ synonym: "ALG1-CDG (CDG-Ik)" RELATED [GARD:0009838] synonym: "ALG1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] synonym: "carbohydrate deficient glycoprotein syndrome type Ik" EXACT [Orphanet:79327] synonym: "CDG 1K" RELATED [GARD:0009838] -synonym: "CDG Ik" RELATED [OMIM:608540] +synonym: "CDG Ik" RELATED [] synonym: "CDG syndrome type Ik" EXACT [Orphanet:79327] synonym: "CDG-Ik" EXACT [Orphanet:79327] synonym: "CDG1K" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608540, Orphanet:79327] synonym: "congenital disorder of glycosylation type 1k" EXACT [Orphanet:79327] synonym: "congenital disorder of glycosylation type Ik" EXACT [Orphanet:79327] -synonym: "congenital disorder of glycosylation, type Ik" RELATED [MONDO:Lexical, OMIM:608540] +synonym: "congenital disorder of glycosylation, type Ik" RELATED [MONDO:Lexical] synonym: "mannosyltransferase 1 deficiency" EXACT [Orphanet:79327] xref: DOID:0080563 {source="MONDO:equivalentTo"} xref: GARD:9838 {source="MONDO:GARD"} @@ -273469,7 +273517,7 @@ name: aneurysm, intracranial berry, 2 subset: gard_rare {source="GARD:10033", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, intracranial BERRY, 2" RELATED [MONDO:Lexical, OMIM:608542] +synonym: "aneurysm, intracranial BERRY, 2" RELATED [MONDO:Lexical] synonym: "ANIB2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608542] xref: DOID:0080965 {source="MONDO:equivalentTo"} xref: GARD:10033 {source="MONDO:GARD"} @@ -273484,11 +273532,11 @@ is_a: MONDO:0016483 {source="DC-OMIM:608542", source="DOID:0080965", source="OMI id: MONDO:0012054 name: schizophrenia 12 def: "A schizophrenia that has material basis in a mutation on chromosome 1p36.2." [DOID:0070088] -synonym: "schizophrenia 12" EXACT [OMIM:608543] -synonym: "schizophrenia susceptibility locus, chromosome 1P-related" RELATED [OMIM:608543] -synonym: "schizophrenia type 12" EXACT [MONDORULE:2, OMIM:608543] -synonym: "SCZD12" EXACT ABBREVIATION [DOID:0070088] -synonym: "Sczd12" RELATED [OMIM:608543] +synonym: "schizophrenia 12" EXACT [DOID:0070088, OMIM:608543] +synonym: "schizophrenia susceptibility locus, chromosome 1P-related" RELATED [] +synonym: "schizophrenia type 12" EXACT [MONDORULE:2] +synonym: "SCZD12" EXACT ABBREVIATION [DOID:0070088, OMIM:608543] +synonym: "Sczd12" RELATED [] xref: DOID:0070088 {source="MONDO:equivalentTo"} xref: MEDGEN:373838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608543 {source="DOID:0070088", source="MONDO:equivalentTo"} @@ -273506,9 +273554,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:2370"} subset: orphanet_rare {source="Orphanet:2370"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Larsen-like syndrome" RELATED [OMIM:608545] -synonym: "Larsen-like syndrome, isolated cases" EXACT [OMIM:608545, OMIM:genemap2] -synonym: "Lrsl" RELATED [OMIM:608545] +synonym: "Larsen-like syndrome" RELATED [] +synonym: "Larsen-like syndrome, isolated cases" EXACT [] +synonym: "Lrsl" RELATED [] xref: GARD:16595 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:2370/attributed", source="Orphanet:2370/ntbt", source="Orphanet:2370"} xref: MEDGEN:325280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -273529,9 +273577,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "amaurosis congenita of Leber, type 9" RELATED [GARD:0009491] synonym: "LCA9" EXACT ABBREVIATION [DOID:0110005, MONDO:Lexical, OMIM:608553] -synonym: "Leber congenital amaurosis 9" EXACT [MONDO:Lexical, OMIM:608553] +synonym: "Leber congenital amaurosis 9" EXACT [DOID:0110005, MONDO:Lexical, OMIM:608553] synonym: "Leber congenital amaurosis caused by mutation in NMNAT1" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 9" EXACT [DOID:0110005, MONDORULE:1, OMIM:608553] +synonym: "Leber congenital amaurosis type 9" EXACT [MONDORULE:1] synonym: "NMNAT1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110005 {source="MONDO:equivalentTo"} xref: GARD:9491 {source="MONDO:GARD"} @@ -273558,7 +273606,7 @@ subset: predisposition synonym: "Legionella infection" RELATED [GARD:0006876] synonym: "legionnaire disease, susceptibility to" EXACT [OMIM:608556] synonym: "legionnaire's disease" RELATED [GARD:0006876] -synonym: "susceptibility to legionnaire disease" RELATED [OMIM:608556] +synonym: "susceptibility to legionnaire disease" RELATED [] xref: MEDGEN:325276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608556 {source="MONDO:equivalentTo"} xref: UMLS:C1837872 {source="MEDGEN:325276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -273570,9 +273618,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012058 name: myocardial infarction, susceptibility to, 2 subset: predisposition -synonym: "Mci2" RELATED [OMIM:608557] +synonym: "Mci2" RELATED [] synonym: "myocardial infarction, susceptibility to, 2" EXACT [OMIM:608557] -synonym: "myocardial infarction, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608557] +synonym: "myocardial infarction, susceptibility to, type 2" EXACT [MONDORULE:1] xref: MEDGEN:325275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608557 {source="MONDO:equivalentTo"} xref: UMLS:C1837871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325275"} @@ -273588,9 +273636,9 @@ name: polydactyly, postaxial, type A4 subset: gard_rare {source="GARD:18175", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Papa4" RELATED [OMIM:608562] +synonym: "Papa4" RELATED [] synonym: "polydactyly, postaxial, type A4" EXACT [OMIM:608562] -synonym: "postaxial polydactyly, type A4" RELATED [OMIM:608562] +synonym: "postaxial polydactyly, type A4" RELATED [] xref: GARD:18175 {source="MONDO:GARD"} xref: MEDGEN:325272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563909 {source="MONDO:equivalentTo"} @@ -273606,14 +273654,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22609", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 35" NARROW [DOID:0110493] -synonym: "autosomal recessive nonsyndromic deafness 35" NARROW [OMIM:608565] +synonym: "autosomal recessive deafness 35" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 35" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ESRRB" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 35" NARROW [DOID:0110493, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 35" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 35" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 35" NARROW [MONDO:Lexical, OMIM:608565, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 35" NARROW [MONDORULE:2, OMIM:608565] -synonym: "DFNB35" NARROW ABBREVIATION [DOID:0110493, MONDO:Lexical, OMIM:608565] +synonym: "deafness, autosomal recessive 35" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 35" NARROW [MONDORULE:2] +synonym: "DFNB35" NARROW ABBREVIATION [MONDO:Lexical] synonym: "ESRRB autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110493 {source="MONDO:equivalentTo"} xref: GARD:22609 {source="MONDO:GARD"} @@ -273639,10 +273687,10 @@ subset: ordo_disorder {source="Orphanet:166282"} subset: orphanet_rare {source="Orphanet:166282"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial sinus node dysfunction" EXACT [Orphanet:166282] +synonym: "familial sinus node dysfunction" EXACT [] synonym: "hereditary sick sinus syndrome" EXACT [MONDO:patterns/hereditary] -synonym: "sick sinus syndrome 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:608567] -synonym: "SSS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608567] +synonym: "sick sinus syndrome 1, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "SSS1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:13663 {source="MONDO:GARD"} xref: ICD10CM:I49.5 {source="Orphanet:166282/attributed", source="Orphanet:166282/ntbt", source="Orphanet:166282"} xref: icd11.foundation:1495462959 {source="MONDO:equivalentTo"} @@ -273667,11 +273715,11 @@ subset: gard_rare {source="GARD:15434", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ABCC9 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cardiomyopathy, dilated, 1O" RELATED [MONDO:Lexical, OMIM:608569] -synonym: "cardiomyopathy, dilated, type 1O" EXACT [MONDORULE:4, OMIM:608569] -synonym: "cardiomyopathy, dilated, with ventricular tachycardia" RELATED [OMIM:608569] +synonym: "cardiomyopathy, dilated, 1O" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1O" EXACT [MONDORULE:4] +synonym: "cardiomyopathy, dilated, with ventricular tachycardia" RELATED [] synonym: "CMD1O" EXACT ABBREVIATION [DOID:0110451, MONDO:Lexical, OMIM:608569] -synonym: "dilated cardiomyopathy type 1O" EXACT [DOID:0110451, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1O" EXACT [MONDORULE:4] synonym: "dilated cardiomyopathy with ventricular tachycardia" EXACT [DOID:0110451] synonym: "familial isolated dilated cardiomyopathy caused by mutation in ABCC9" EXACT [MONDO:design_pattern] xref: DOID:0110451 {source="MONDO:equivalentTo"} @@ -273695,7 +273743,7 @@ subset: orphanet_rare {source="Orphanet:52056"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Morava-Mehes syndrome" EXACT [Orphanet:52056] -synonym: "ulnar/fibular RAY defect and brachydactyly" RELATED [OMIM:608571] +synonym: "ulnar/fibular RAY defect and brachydactyly" RELATED [] xref: GARD:16654 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="Orphanet:52056", source="Orphanet:52056/attributed", source="Orphanet:52056/ntbt"} xref: MEDGEN:324890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -273717,8 +273765,8 @@ subset: orphanet_rare {source="Orphanet:1200"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance" RELATED [GARD:0010041] -synonym: "BMKS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608572] -synonym: "Burn-McKeown syndrome" EXACT [MONDO:Lexical, OMIM:608572, Orphanet:1200] +synonym: "BMKS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Burn-McKeown syndrome" EXACT [DOID:0080695, MONDO:Lexical, OMIM:608572, Orphanet:1200] synonym: "choanal atresia deafness cardiac defects dysmorphism" RELATED [GARD:0010041] synonym: "oculootofacial dysplasia" EXACT [OMIM:608572] xref: DOID:0080695 {source="MONDO:equivalentTo"} @@ -273746,7 +273794,7 @@ name: atrial fibrillation, familial, 1 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ATFB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608583] -synonym: "atrial fibrillation, autosomal dominant" BROAD [OMIM:608583] +synonym: "atrial fibrillation, autosomal dominant" BROAD [] synonym: "atrial fibrillation, familial, 1" EXACT [MONDO:Lexical, OMIM:608583] xref: MEDGEN:334469 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538261 {source="MONDO:equivalentTo"} @@ -273760,10 +273808,10 @@ id: MONDO:0012067 name: asthma-related traits, susceptibility to, 2 def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "ASRT2" RELATED ABBREVIATION [OMIM:608584] -synonym: "asthma, susceptibility to, 2" EXACT [OMIM:608584, OMIM:genemap2] +synonym: "ASRT2" RELATED ABBREVIATION [] +synonym: "asthma, susceptibility to, 2" EXACT [] synonym: "asthma-related traits, susceptibility to, 2" EXACT [OMIM:608584] -synonym: "asthma-related traits, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608584] +synonym: "asthma-related traits, susceptibility to, type 2" EXACT [MONDORULE:1] synonym: "inherited susceptibility to asthma caused by mutation in NPSR1" EXACT [MONDO:design_pattern] synonym: "NPSR1 inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:324885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -273821,16 +273869,16 @@ synonym: "AGPAT2 congenital generalised lipodystrophy (disease)" EXACT OMO:00030 synonym: "AGPAT2 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "AGPAT2-related Brunzell syndrome" RELATED [GARD:0000084] synonym: "Berardinelli-Seip congenital lipodystrophy type 1" RELATED [GARD:0000084] -synonym: "Berardinelli-Seip congenital lipodystrophy, type 1" EXACT [DOID:0111135] +synonym: "Berardinelli-Seip congenital lipodystrophy, type 1" EXACT [DOID:0111135, OMIM:608594] synonym: "Brunzell syndrome AGPAT2-related" EXACT [DOID:0111135] -synonym: "Brunzell syndrome, AGPAT2-related" RELATED [OMIM:608594] -synonym: "BSCL1" EXACT ABBREVIATION [DOID:0111135, GARD:0000084] -synonym: "CGL1" EXACT ABBREVIATION [DOID:0111135, MONDO:Lexical, OMIM:608594] +synonym: "Brunzell syndrome, AGPAT2-related" RELATED [] +synonym: "BSCL1" EXACT ABBREVIATION [GARD:0000084] +synonym: "CGL1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608594] synonym: "congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2" EXACT OMO:0003005 [] synonym: "congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2" EXACT [] -synonym: "congenital generalized lipodystrophy type 1" EXACT CLINGEN_LABEL [] -synonym: "lipodystrophy, Berardinelli-Seip congenital, type 1" RELATED [OMIM:608594] -synonym: "lipodystrophy, congenital generalized, type 1" RELATED [MONDO:Lexical, OMIM:608594] +synonym: "congenital generalized lipodystrophy type 1" EXACT CLINGEN_LABEL [DOID:0111135] +synonym: "lipodystrophy, Berardinelli-Seip congenital, type 1" RELATED [] +synonym: "lipodystrophy, congenital generalized, type 1" RELATED [MONDO:Lexical] xref: DOID:0111135 {source="MONDO:equivalentTo"} xref: GARD:84 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="DOID:0111135"} @@ -273854,12 +273902,12 @@ subset: ordo_disorder {source="Orphanet:79084"} subset: orphanet_rare {source="Orphanet:79084"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial partial lipodystrophy type 1" EXACT [Orphanet:79084] +synonym: "familial partial lipodystrophy type 1" EXACT [DOID:0070207, Orphanet:79084] synonym: "familial partial lipodystrophy type Köbberling" RELATED [GARD:0012598] -synonym: "familial partial lipodystrophy, Köbberling type" RELATED [Orphanet:79084] -synonym: "FPLD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608600, Orphanet:79084] -synonym: "lipodystrophy, familial partial, Kobberling type" RELATED [OMIM:608600] -synonym: "lipodystrophy, familial partial, type 1" RELATED [MONDO:Lexical, OMIM:608600] +synonym: "familial partial lipodystrophy, Köbberling type" RELATED [] +synonym: "FPLD1" EXACT ABBREVIATION [DOID:0070207, MONDO:Lexical, OMIM:608600, Orphanet:79084] +synonym: "lipodystrophy, familial partial, Kobberling type" RELATED [] +synonym: "lipodystrophy, familial partial, type 1" RELATED [MONDO:Lexical] xref: DOID:0070207 {source="MONDO:equivalentTo"} xref: GARD:12598 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="Orphanet:79084", source="Orphanet:79084/attributed", source="Orphanet:79084/ntbt"} @@ -273880,7 +273928,7 @@ subset: ordo_disorder {source="Orphanet:440706"} subset: orphanet_rare {source="Orphanet:440706"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ribose 5-phosphate isomerase deficiency" RELATED [OMIM:608611] +synonym: "ribose 5-phosphate isomerase deficiency" RELATED [] xref: GARD:17747 {source="MONDO:GARD"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:220946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -273903,10 +273951,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:90154"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lipodystrophy, type B, associated with Mandibuloacral dysplasia" RELATED [OMIM:608612] -synonym: "MADB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608612] -synonym: "MANDIBULOACRAL dysplasia with type B lipodystrophy" RELATED [OMIM:608612] -synonym: "mandibuloacral dysplasia with type B lipodystrophy" EXACT [MONDO:Lexical, OMIM:608612] +synonym: "lipodystrophy, type B, associated with Mandibuloacral dysplasia" RELATED [] +synonym: "MADB" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "MANDIBULOACRAL dysplasia with type B lipodystrophy" RELATED [] +synonym: "mandibuloacral dysplasia with type B lipodystrophy" EXACT [icd11.foundation:1199517264, MONDO:Lexical, OMIM:608612, Orphanet:90154] xref: DOID:0081129 {source="MONDO:equivalentTo"} xref: GARD:9989 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:90154/attributed", source="Orphanet:90154/ntbt", source="Orphanet:90154"} @@ -273937,7 +273985,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant ectodermal dysplasia-cancer predisposition syndrome" EXACT [Orphanet:300576] synonym: "ODCRCS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608615] -synonym: "oligodontia-cancer predisposition syndrome" EXACT CLINGEN_LABEL [] +synonym: "oligodontia-cancer predisposition syndrome" EXACT CLINGEN_LABEL [Orphanet:300576] synonym: "oligodontia-colorectal cancer syndrome" EXACT [MESH:C563898, MONDO:Lexical, OMIM:608615] synonym: "tooth agenesis-colorectal cancer syndrome" EXACT [OMIM:608615] xref: GARD:17376 {source="MONDO:GARD"} @@ -273971,7 +274019,7 @@ subset: rare synonym: "ALS8" EXACT ABBREVIATION [DOID:0050752, MONDO:Lexical, OMIM:608627] synonym: "amyotrophic lateral sclerosis 8" EXACT [DOID:0050752, MONDO:Lexical, OMIM:608627] synonym: "amyotrophic lateral sclerosis caused by mutation in VAPB" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis type 8" EXACT [MONDORULE:1, OMIM:608627] +synonym: "amyotrophic lateral sclerosis type 8" EXACT [DOID:0050752, MONDORULE:1] synonym: "VAPB amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050752 {source="MONDO:equivalentTo"} xref: GARD:10499 {source="MONDO:GARD"} @@ -273996,10 +274044,10 @@ subset: gard_rare {source="GARD:15435", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AHI1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "JBTS3" EXACT ABBREVIATION [DOID:0110998, MONDO:Lexical, OMIM:608629] -synonym: "Joubert syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608629] +synonym: "JBTS3" EXACT ABBREVIATION [DOID:0110998, MONDO:Lexical, NCIT:C148259, OMIM:608629] +synonym: "Joubert syndrome 3" EXACT CLINGEN_LABEL [DOID:0110998, MONDO:Lexical, NCIT:C148259, OMIM:608629] synonym: "Joubert syndrome caused by mutation in AHI1" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 3" EXACT [DOID:0110998, MONDORULE:1, OMIM:608629] +synonym: "Joubert syndrome type 3" EXACT [MONDORULE:1] xref: DOID:0110998 {source="MONDO:equivalentTo"} xref: GARD:15435 {source="MONDO:GARD"} xref: MEDGEN:332931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -274019,8 +274067,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012079 name: asperger syndrome, susceptibility to, 2 subset: predisposition -synonym: "Asperger syndrome susceptibility 2, Isolated cases" EXACT [OMIM:608631, OMIM:genemap2] -synonym: "ASPERGER syndrome, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:608631] +synonym: "Asperger syndrome susceptibility 2, Isolated cases" EXACT [] +synonym: "ASPERGER syndrome, susceptibility to, 2" RELATED [MONDO:Lexical] synonym: "ASPG2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608631] xref: MEDGEN:332517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608631 {source="MONDO:equivalentTo"} @@ -274040,12 +274088,12 @@ def: "Any neuronopathy, distal hereditary motor in which the cause of the diseas subset: gard_rare {source="GARD:18263", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HMN 2B" RELATED [OMIM:608634] -synonym: "HMN2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608634] +synonym: "HMN 2B" RELATED [] +synonym: "HMN2B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HSPB1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB1" EXACT [MONDO:design_pattern] -synonym: "neuronopathy, distal hereditary motor, type IIB" RELATED [MONDO:Lexical, OMIM:608634] -synonym: "neuropathy, distal hereditary motor, type 2B" RELATED [OMIM:608634] +synonym: "neuronopathy, distal hereditary motor, type IIB" RELATED [MONDO:Lexical] +synonym: "neuropathy, distal hereditary motor, type 2B" RELATED [] xref: DOID:0111207 {source="MONDO:equivalentTo"} xref: GARD:18263 {source="MONDO:GARD"} xref: MEDGEN:382017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -274071,16 +274119,16 @@ subset: orphanet_rare {source="Orphanet:238446"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "15q11-q13 duplication syndrome" EXACT [Orphanet:238446] -synonym: "15q11-q13 microduplication syndrome" EXACT [Orphanet:238446] +synonym: "15q11-q13 duplication syndrome" EXACT [] +synonym: "15q11-q13 microduplication syndrome" EXACT [] synonym: "15q11q13 duplication syndrome" EXACT [Orphanet:238446] -synonym: "autism susceptibility 4" EXACT [OMIM:608636, OMIM:genemap2] -synonym: "autism, susceptibility to, 4" RELATED [OMIM:608636] -synonym: "chromosome 15q11-q13 DUPLICATION syndrome" RELATED [OMIM:608636] -synonym: "chromosome 15Q11.2 Duplication syndrome" RELATED [OMIM:608636] +synonym: "autism susceptibility 4" EXACT [] +synonym: "autism, susceptibility to, 4" RELATED [] +synonym: "chromosome 15q11-q13 DUPLICATION syndrome" RELATED [] +synonym: "chromosome 15Q11.2 Duplication syndrome" RELATED [] synonym: "dup(15)(q11q13)" EXACT [Orphanet:238446] -synonym: "Duplication 15Q11-q13 syndrome" RELATED [OMIM:608636] -synonym: "trisomy 15q11-q13" EXACT [Orphanet:238446] +synonym: "Duplication 15Q11-q13 syndrome" RELATED [] +synonym: "trisomy 15q11-q13" EXACT [] synonym: "trisomy 15q11q13" EXACT [Orphanet:238446] xref: GARD:17172 {source="MONDO:GARD"} xref: MEDGEN:390767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -274104,8 +274152,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012082 name: asperger syndrome, susceptibility to, 1 subset: predisposition -synonym: "Asperger syndrome susceptibility 1, Isolated cases" EXACT [OMIM:608638, OMIM:genemap2] -synonym: "ASPERGER syndrome, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:608638] +synonym: "Asperger syndrome susceptibility 1, Isolated cases" EXACT [] +synonym: "ASPERGER syndrome, susceptibility to, 1" RELATED [MONDO:Lexical] synonym: "ASPG1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608638] xref: MEDGEN:325218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608638 {source="MONDO:equivalentTo"} @@ -274125,13 +274173,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18124", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 28" NARROW [DOID:0110557] -synonym: "autosomal dominant nonsyndromic deafness 28" NARROW [OMIM:608641] +synonym: "autosomal dominant deafness 28" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 28" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GRHL2" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 28" NARROW [DOID:0110557, MONDORULE:2] -synonym: "deafness, autosomal dominant 28" NARROW [MONDO:Lexical, OMIM:608641, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 28" NARROW [MONDORULE:2, OMIM:608641] -synonym: "DFNA28" NARROW ABBREVIATION [DOID:0110557, MONDO:Lexical, OMIM:608641] +synonym: "autosomal dominant nonsyndromic deafness type 28" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 28" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 28" NARROW [MONDORULE:2] +synonym: "DFNA28" NARROW ABBREVIATION [MONDO:Lexical] synonym: "GRHL2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110557 {source="MONDO:equivalentTo"} xref: GARD:18124 {source="MONDO:GARD"} @@ -274159,13 +274207,13 @@ subset: ordo_disorder {source="Orphanet:35708"} subset: orphanet_rare {source="Orphanet:35708"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AADC deficiency" EXACT [DOID:0090123, Orphanet:35708] -synonym: "Aadc deficiency" RELATED [OMIM:608643] +synonym: "AADC deficiency" EXACT [DOID:0090123, NCIT:C142085, OMIM:608643, Orphanet:35708] +synonym: "Aadc deficiency" RELATED [] synonym: "aromatic amino acid decarboxylase deficiency" RELATED [GARD:0000770] -synonym: "aromatic L-amino acid decarboxylase deficiency" EXACT [OMIM:608643] +synonym: "aromatic L-amino acid decarboxylase deficiency" EXACT [DOID:0090123, icd11.foundation:1134258245, OMIM:608643, Orphanet:35708] synonym: "aromatic L-amino-acid decarboxylase deficiency" EXACT [NCIT:C142085] -synonym: "DDC deficiency" RELATED [OMIM:608643] -synonym: "Dopa decarboxylase deficiency" RELATED [OMIM:608643] +synonym: "DDC deficiency" RELATED [] +synonym: "Dopa decarboxylase deficiency" RELATED [] xref: DOID:0090123 {source="MONDO:equivalentTo"} xref: GARD:770 {source="MONDO:GARD"} xref: ICD10CM:G24.8 {source="DOID:0090123", source="Orphanet:35708", source="Orphanet:35708/attributed", source="Orphanet:35708/ntbt"} @@ -274194,15 +274242,15 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15436", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CILD3" EXACT ABBREVIATION [DOID:0110599, MONDO:Lexical, OMIM:608644] -synonym: "ciliary dyskinesia, primary, 3" RELATED [MONDO:Lexical, OMIM:608644] -synonym: "ciliary dyskinesia, primary, 3, with or without situs inversus" RELATED [OMIM:608644] -synonym: "ciliary dyskinesia, primary, type 3" EXACT [MONDORULE:1, OMIM:608644] +synonym: "CILD3" EXACT ABBREVIATION [DOID:0110599, MONDO:Lexical, NCIT:C172392, OMIM:608644] +synonym: "ciliary dyskinesia, primary, 3" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 3, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 3" EXACT [MONDORULE:1] synonym: "DNAH5 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "primary ciliary dyskinesia 3" EXACT CLINGEN_LABEL [] +synonym: "primary ciliary dyskinesia 3" EXACT CLINGEN_LABEL [DOID:0110599, NCIT:C172392] synonym: "primary ciliary dyskinesia 3 with or without situs inversus" EXACT [DOID:0110599] synonym: "primary ciliary dyskinesia caused by mutation in DNAH5" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 3" EXACT [DOID:0110599, MONDORULE:1] +synonym: "primary ciliary dyskinesia type 3" EXACT [MONDORULE:1] xref: DOID:0110599 {source="MONDO:equivalentTo"} xref: GARD:15436 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110599"} @@ -274224,11 +274272,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18125", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 31" NARROW [DOID:0110561] -synonym: "autosomal dominant nonsyndromic deafness 31" NARROW [OMIM:608645] -synonym: "autosomal dominant nonsyndromic deafness type 31" NARROW [DOID:0110561, MONDORULE:2] -synonym: "deafness, autosomal dominant 31" NARROW [MONDO:Lexical, OMIM:608645, OMIM:genemap2] -synonym: "DFNA31" NARROW ABBREVIATION [DOID:0110561, MONDO:Lexical, OMIM:608645] +synonym: "autosomal dominant deafness 31" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 31" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 31" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 31" NARROW [MONDO:Lexical] +synonym: "DFNA31" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110561 {source="MONDO:equivalentTo"} xref: GARD:18125 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110561"} @@ -274248,10 +274296,10 @@ subset: gard_rare {source="GARD:15437", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD4" EXACT ABBREVIATION [DOID:0110614, MONDO:Lexical, OMIM:608646] -synonym: "ciliary dyskinesia, primary, 4" RELATED [MONDO:Lexical, OMIM:608646] -synonym: "ciliary dyskinesia, primary, 4, with or without situs inversus" RELATED [OMIM:608646] +synonym: "ciliary dyskinesia, primary, 4" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 4, with or without situs inversus" RELATED [] synonym: "primary ciliary dyskinesia 4 with or without situs inversus" EXACT [DOID:0110614] -synonym: "primary ciliary dyskinesia type 4" EXACT [DOID:0110614, MONDORULE:1] +synonym: "primary ciliary dyskinesia type 4" EXACT [MONDORULE:1] xref: DOID:0110614 {source="MONDO:equivalentTo"} xref: GARD:15437 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110614"} @@ -274271,13 +274319,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CILD5" EXACT ABBREVIATION [DOID:0110617, MONDO:Lexical, OMIM:608647] -synonym: "ciliary dyskinesia, primary, 5" RELATED [MONDO:Lexical, OMIM:608647] -synonym: "ciliary dyskinesia, primary, 5, without situs inversus" RELATED [OMIM:608647] -synonym: "ciliary dyskinesia, primary, type 5" EXACT [MONDORULE:1, OMIM:608647] +synonym: "ciliary dyskinesia, primary, 5" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 5, without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 5" EXACT [MONDORULE:1] synonym: "HYDIN primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia 5 without situs inversus" EXACT [DOID:0110617] synonym: "primary ciliary dyskinesia caused by mutation in HYDIN" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 5" EXACT [DOID:0110617, MONDORULE:1] +synonym: "primary ciliary dyskinesia type 5" EXACT [MONDORULE:1] xref: DOID:0110617 {source="MONDO:equivalentTo"} xref: GARD:15438 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110617"} @@ -274302,12 +274350,12 @@ subset: orphanet_rare {source="Orphanet:88621"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital ichthyosis type 4" EXACT [Orphanet:88621] -synonym: "ichthyosis congenita 4" RELATED [OMIM:608649] +synonym: "ichthyosis congenita 4" RELATED [] synonym: "ichthyosis congenita IV" RELATED [GARD:0009886] synonym: "ichthyosis prematurity syndrome" EXACT [MONDO:Lexical, OMIM:608649] -synonym: "ichthyosis-prematurity syndrome" RELATED [Orphanet:88621] +synonym: "ichthyosis-prematurity syndrome" RELATED [] synonym: "idiopathic pneumonia syndrome" EXACT [NCIT:C62590] -synonym: "IPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608649, Orphanet:88621] +synonym: "IPS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C62590, OMIM:608649, Orphanet:88621] xref: GARD:9886 {source="MONDO:GARD"} xref: MEDGEN:324839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536271 {source="Orphanet:88621", source="MONDO:equivalentTo", source="Orphanet:88621/e"} @@ -274333,11 +274381,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18126", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 47" NARROW [DOID:0110570] -synonym: "autosomal dominant nonsyndromic deafness 47" NARROW [OMIM:608652] -synonym: "autosomal dominant nonsyndromic deafness type 47" NARROW [DOID:0110570, MONDORULE:2] -synonym: "deafness, autosomal dominant 47" NARROW [MONDO:Lexical, OMIM:608652, OMIM:genemap2] -synonym: "DFNA47" NARROW ABBREVIATION [DOID:0110570, MONDO:Lexical, OMIM:608652] +synonym: "autosomal dominant deafness 47" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 47" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 47" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 47" NARROW [MONDO:Lexical] +synonym: "DFNA47" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110570 {source="MONDO:equivalentTo"} xref: GARD:18126 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110570"} @@ -274357,20 +274405,20 @@ def: "An autosomal recessive nonsyndromic deafness that is characterized by prel subset: gard_rare {source="GARD:22610", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 105" NARROW [DOID:0110466] -synonym: "autosomal recessive deafness 32" NARROW [DOID:0110491] +synonym: "autosomal recessive deafness 105" NARROW [] +synonym: "autosomal recessive deafness 32" NARROW [] synonym: "autosomal recessive nonsyndromic deafness 105" NARROW [MONDO:0014849] -synonym: "autosomal recessive nonsyndromic deafness 32" NARROW [OMIM:608653] +synonym: "autosomal recessive nonsyndromic deafness 32" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CDC14A" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 105" NARROW [DOID:0110466, MONDORULE:2] -synonym: "autosomal recessive nonsyndromic deafness type 32" NARROW [DOID:0110491, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 105" NARROW [MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 32" NARROW [MONDORULE:2] synonym: "CDC14A autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 105" NARROW [OMIM:616958] -synonym: "deafness, autosomal recessive 32" NARROW [MONDO:Lexical, OMIM:608653] -synonym: "deafness, autosomal recessive 32, with or without immotile sperm" NARROW [OMIM:608653, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 105" NARROW [MONDORULE:2, OMIM:616958] -synonym: "DFNB105" NARROW ABBREVIATION [DOID:0110466, OMIM:616958] -synonym: "DFNB32" NARROW ABBREVIATION [DOID:0110491, MONDO:Lexical, OMIM:608653] +synonym: "deafness, autosomal recessive 105" NARROW [] +synonym: "deafness, autosomal recessive 32" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive 32, with or without immotile sperm" NARROW [] +synonym: "deafness, autosomal recessive type 105" NARROW [MONDORULE:2] +synonym: "DFNB105" NARROW ABBREVIATION [] +synonym: "DFNB32" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110466 {source="MONDO:equivalentObsolete"} xref: DOID:0110491 {source="MONDO:equivalentTo"} xref: GARD:22610 {source="MONDO:GARD"} @@ -274398,13 +274446,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF" EXACT [MONDO:design_pattern] synonym: "congenital insensitivity to pain and thermal analgesia" EXACT [Orphanet:64752] -synonym: "hereditary sensory and autonomic neuropathy type V" EXACT [DOID:0070145, Orphanet:64752] -synonym: "HSAN 5" RELATED [OMIM:608654] +synonym: "hereditary sensory and autonomic neuropathy type V" EXACT [DOID:0070145, icd11.foundation:1411011731, Orphanet:64752] +synonym: "HSAN 5" RELATED [] synonym: "HSAN V" RELATED [GARD:0012328] synonym: "HSAN5" EXACT ABBREVIATION [DOID:0070145, MONDO:Lexical, OMIM:608654, Orphanet:64752] -synonym: "insensitivity to pain, congenital" RELATED [OMIM:608654] -synonym: "neuropathy, hereditary sensory and autonomic, type 5" RELATED [OMIM:608654] -synonym: "neuropathy, hereditary sensory and autonomic, type V" RELATED [MONDO:Lexical, OMIM:608654] +synonym: "insensitivity to pain, congenital" RELATED [] +synonym: "neuropathy, hereditary sensory and autonomic, type 5" RELATED [] +synonym: "neuropathy, hereditary sensory and autonomic, type V" RELATED [MONDO:Lexical] synonym: "NGF autosomal recessive hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070145 {source="MONDO:equivalentTo"} xref: GARD:12328 {source="MONDO:GARD"} @@ -274429,10 +274477,10 @@ id: MONDO:0012093 name: prostate cancer, hereditary, 3 subset: gard_rare {source="GARD:15439", source="MONDO:GARD"} subset: rare -synonym: "HPC3" RELATED ABBREVIATION [OMIM:608656] +synonym: "HPC3" RELATED ABBREVIATION [] synonym: "prostate cancer, hereditary, 3" EXACT [OMIM:608656] -synonym: "prostate cancer, hereditary, type 3" EXACT [MONDORULE:1, OMIM:608656] -synonym: "prostate cancer, susceptibility to, 3" EXACT [OMIM:608656, OMIM:genemap2] +synonym: "prostate cancer, hereditary, type 3" EXACT [MONDORULE:1] +synonym: "prostate cancer, susceptibility to, 3" EXACT [] xref: GARD:15439 {source="MONDO:GARD"} xref: MEDGEN:373367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563883 {source="MONDO:equivalentTo"} @@ -274447,11 +274495,11 @@ id: MONDO:0012094 name: prostate cancer, hereditary, 4 subset: gard_rare {source="GARD:15440", source="MONDO:GARD"} subset: rare -synonym: "HPC4" RELATED ABBREVIATION [OMIM:608658] +synonym: "HPC4" RELATED ABBREVIATION [] synonym: "prostate cancer, hereditary, 4" EXACT [OMIM:608658] -synonym: "prostate cancer, hereditary, on chromosome 7" RELATED [OMIM:608658] -synonym: "prostate cancer, hereditary, type 4" EXACT [MONDORULE:1, OMIM:608658] -synonym: "prostate cancer, susceptibility to, 4" EXACT [OMIM:608658, OMIM:genemap2] +synonym: "prostate cancer, hereditary, on chromosome 7" RELATED [] +synonym: "prostate cancer, hereditary, type 4" EXACT [MONDORULE:1] +synonym: "prostate cancer, susceptibility to, 4" EXACT [] xref: GARD:15440 {source="MONDO:GARD"} xref: MEDGEN:325204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563882 {source="MONDO:equivalentTo"} @@ -274472,7 +274520,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:364577"} subset: orphanet_rare {source="Orphanet:364577"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ROBIN sequence with distinctive facial appearance and brachydactyly" RELATED [OMIM:608670] +synonym: "ROBIN sequence with distinctive facial appearance and brachydactyly" RELATED [] xref: GARD:17583 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:364577", source="Orphanet:364577/attributed", source="Orphanet:364577/ntbt"} xref: MEDGEN:325196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -274501,13 +274549,13 @@ subset: orphanet_rare {source="Orphanet:99945"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174, Orphanet:99945] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2L" RELATED [GARD:0012432] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L" RELATED [OMIM:608673] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2L" RELATED [MONDO:Lexical, OMIM:608673] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2L" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2L" EXACT [DOID:0110174] -synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2L" RELATED [OMIM:608673] +synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2L" RELATED [] synonym: "CMT2L" EXACT ABBREVIATION [DOID:0110174, MONDO:Lexical, OMIM:608673, Orphanet:99945] synonym: "HSPB8 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110174 {source="MONDO:equivalentTo"} @@ -274530,7 +274578,7 @@ name: spondylocostal dysostosis 2, autosomal recessive subset: gard_rare {source="GARD:9703", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SCDO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608681] +synonym: "SCDO2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "spondylocostal dysostosis 2" RELATED [GARD:0009703] synonym: "spondylocostal dysostosis 2, autosomal recessive" EXACT [MONDO:Lexical, OMIM:608681] xref: DOID:0112362 {source="MONDO:equivalentTo"} @@ -274557,12 +274605,12 @@ subset: ordo_disorder {source="Orphanet:101110"} subset: orphanet_rare {source="Orphanet:101110"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 11q12 duplication syndrome, 260-Kb" RELATED [OMIM:608687] +synonym: "chromosome 11q12 duplication syndrome, 260-Kb" RELATED [] synonym: "SCA20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608687, Orphanet:101110] -synonym: "spinocerebellar ataxia 20" RELATED [MONDO:Lexical, OMIM:608687] -synonym: "spinocerebellar ataxia type 20" EXACT [MONDORULE:2, OMIM:608687] -synonym: "spinocerebellar ataxia with dysphonia" RELATED [OMIM:608687] -synonym: "spinocerebellar ataxia with spasmodic cough" RELATED [OMIM:608687] +synonym: "spinocerebellar ataxia 20" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 20" EXACT [DOID:0050971, icd11.foundation:960716995, MONDORULE:2, Orphanet:101110] +synonym: "spinocerebellar ataxia with dysphonia" RELATED [] +synonym: "spinocerebellar ataxia with spasmodic cough" RELATED [] xref: DOID:0050971 {source="MONDO:equivalentTo"} xref: GARD:9997 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:101110", source="Orphanet:101110/attributed", source="Orphanet:101110/ntbt"} @@ -274586,11 +274634,11 @@ subset: orphanet_rare {source="Orphanet:250977"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "5-amino-4-imidazole carboxamide ribosiduria" EXACT [Orphanet:250977] -synonym: "AICA-ribosiduria due to ATIC deficiency" EXACT [OMIM:608688, OMIM:genemap2] -synonym: "Aica-Ribosuria due to Atic deficiency" RELATED [OMIM:608688] -synonym: "AICAR transformylase/IMP cyclohydrolase deficiency" RELATED [OMIM:608688] -synonym: "ATIC deficiency" EXACT [Orphanet:250977] -synonym: "Atic deficiency" RELATED [OMIM:608688] +synonym: "AICA-ribosiduria due to ATIC deficiency" EXACT [OMIM:608688, Orphanet:250977] +synonym: "Aica-Ribosuria due to Atic deficiency" RELATED [] +synonym: "AICAR transformylase/IMP cyclohydrolase deficiency" RELATED [] +synonym: "ATIC deficiency" EXACT [OMIM:608688, Orphanet:250977] +synonym: "Atic deficiency" RELATED [] xref: GARD:13781 {source="MONDO:GARD"} xref: ICD10CM:E79.8 {source="Orphanet:250977/attributed", source="Orphanet:250977/ntbt", source="Orphanet:250977"} xref: MEDGEN:332474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -274611,9 +274659,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012100 name: major depressive disorder 2 synonym: "major depressive disorder 2" EXACT [OMIM:608691] -synonym: "major depressive disorder type 2" EXACT [MONDORULE:1, OMIM:608691] +synonym: "major depressive disorder type 2" EXACT [MONDORULE:1] synonym: "MDD2" EXACT ABBREVIATION [OMIM:608691] -synonym: "unipolar depression 2" RELATED [OMIM:608691] +synonym: "unipolar depression 2" RELATED [] xref: MEDGEN:324819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563875 {source="MONDO:equivalentTo"} xref: OMIM:608691 {source="MONDO:equivalentTo"} @@ -274631,7 +274679,7 @@ name: glaucoma 1, open angle, J subset: gard_rare {source="GARD:18228", source="MONDO:GARD"} subset: rare synonym: "glaucoma 1, open angle, J" EXACT [MONDO:Lexical, OMIM:608695] -synonym: "glaucoma, primary open angle, juvenile-onset, 2" RELATED [OMIM:608695] +synonym: "glaucoma, primary open angle, juvenile-onset, 2" RELATED [] synonym: "GLC1J" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608695] synonym: "JOAG1J" EXACT ABBREVIATION [] synonym: "JOAG2" EXACT ABBREVIATION [] @@ -274649,8 +274697,8 @@ name: glaucoma 1, open angle, K subset: gard_rare {source="GARD:18229", source="MONDO:GARD"} subset: rare synonym: "glaucoma 1, open angle, K" EXACT [MONDO:Lexical, OMIM:608696] -synonym: "glaucoma 1K, primary open angle, juvenile-onset" EXACT [OMIM:608696, OMIM:genemap2] -synonym: "glaucoma, primary open angle, juvenile-onset, 3" RELATED [OMIM:608696] +synonym: "glaucoma 1K, primary open angle, juvenile-onset" EXACT [] +synonym: "glaucoma, primary open angle, juvenile-onset, 3" RELATED [] synonym: "GLC1K" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608696] synonym: "JOAG1K" EXACT ABBREVIATION [] xref: GARD:18229 {source="MONDO:GARD"} @@ -274673,7 +274721,7 @@ subset: orphanet_rare {source="Orphanet:101111"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608703, Orphanet:101111] -synonym: "spinocerebellar ataxia 25" RELATED [MONDO:Lexical, OMIM:608703] +synonym: "spinocerebellar ataxia 25" RELATED [MONDO:Lexical] xref: DOID:0050974 {source="MONDO:equivalentTo"} xref: GARD:9996 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:101111", source="Orphanet:101111/attributed", source="Orphanet:101111/ntbt"} @@ -274697,19 +274745,19 @@ subset: ordo_disorder {source="Orphanet:79087"} subset: orphanet_rare {source="Orphanet:79087"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired partial lipodystrophy" EXACT [MONDO:patterns/acquired] +synonym: "acquired partial lipodystrophy" EXACT [icd11.foundation:2042663302, MONDO:patterns/acquired, NCIT:C129723, Orphanet:79087] synonym: "APLD" EXACT ABBREVIATION [MONDO:Lexical] -synonym: "APLD, susceptibility to" RELATED [OMIM:608709] -synonym: "Barraquer-Simons syndrome" EXACT [Orphanet:79087] +synonym: "APLD, susceptibility to" RELATED [] +synonym: "Barraquer-Simons syndrome" EXACT [icd11.foundation:2042663302, Orphanet:79087] synonym: "lipodystophy partial progressive" RELATED [GARD:0010509] synonym: "lipodystrophy cephalothoracic type" RELATED [GARD:0010509] synonym: "lipodystrophy partial acquired" RELATED [GARD:0010509] -synonym: "lipodystrophy, cephalothoracic type" RELATED [OMIM:608709] -synonym: "lipodystrophy, partial, acquired, susceptibility to" RELATED [MONDO:Lexical, OMIM:608709] -synonym: "lipodystrophy, partial, progressive" RELATED [OMIM:608709] -synonym: "partial acquired lipodystrophy" EXACT [NCIT:C129723] -synonym: "progressive cephalothoracic lipodystrophy" EXACT [Orphanet:79087] -synonym: "susceptibility to partial acquired lipodystrophy" RELATED [OMIM:608709] +synonym: "lipodystrophy, cephalothoracic type" RELATED [] +synonym: "lipodystrophy, partial, acquired, susceptibility to" RELATED [MONDO:Lexical] +synonym: "lipodystrophy, partial, progressive" RELATED [] +synonym: "partial acquired lipodystrophy" EXACT [] +synonym: "progressive cephalothoracic lipodystrophy" EXACT [icd11.foundation:2042663302, Orphanet:79087] +synonym: "susceptibility to partial acquired lipodystrophy" RELATED [] xref: GARD:10509 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="Orphanet:79087", source="Orphanet:79087/ntbt"} xref: icd11.foundation:2042663302 {source="MONDO:equivalentTo", source="Orphanet:79087"} @@ -274739,16 +274787,16 @@ subset: orphanet_rare {source="Orphanet:900"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ANCA-associated vasculitis" BROAD [PMID:16887845, PMID:28148583] -synonym: "GPA" EXACT ABBREVIATION [Orphanet:900] -synonym: "granulomatosis - Wegener's" EXACT DEPRECATED [DOID:12132] -synonym: "granulomatosis with polyangiitis" EXACT [OMIM:608710] +synonym: "GPA" EXACT ABBREVIATION [NCIT:C3444, OMIM:608710, Orphanet:900] +synonym: "granulomatosis - Wegener's" EXACT DEPRECATED [] +synonym: "granulomatosis with polyangiitis" EXACT [DOID:12132, ICD10CM:M31.3, icd11.foundation:1020056159, NCIT:C3444, OMIM:608710, Orphanet:900] synonym: "Midline granulomatosis" RELATED [GARD:0007880] -synonym: "necrotizing respiratory granulomatosis" EXACT [DOID:12132] +synonym: "necrotizing respiratory granulomatosis" EXACT [DOID:12132, ICD10CM:M31.3] synonym: "pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis" EXACT [NCIT:C123111] -synonym: "Wegener granulomatosis" EXACT DEPRECATED [DOID:12132, OMIM:608710, Orphanet:900] -synonym: "Wegener's granulomatosis" EXACT DEPRECATED [Orphanet:900] -synonym: "Wegener's syndrome" EXACT [DOID:12132] -synonym: "Wg" BROAD DEPRECATED [OMIM:608710] +synonym: "Wegener granulomatosis" EXACT DEPRECATED [icd11.foundation:1020056159, NCIT:C3444] +synonym: "Wegener's granulomatosis" EXACT DEPRECATED [ICD10CM:M31.3, NCIT:C3444] +synonym: "Wegener's syndrome" EXACT [] +synonym: "Wg" BROAD DEPRECATED [] xref: DOID:12132 {source="MONDO:equivalentTo", source="EFO:0005297"} xref: EFO:0005297 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7880 {source="MONDO:GARD"} @@ -274792,7 +274840,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ASPM autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive primary microcephaly caused by mutation in ASPM" EXACT [MONDO:design_pattern] -synonym: "MCPH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608716] +synonym: "MCPH5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 5, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608716] xref: DOID:0070280 {source="MONDO:equivalentTo"} xref: GARD:15441 {source="MONDO:GARD"} @@ -274830,8 +274878,8 @@ synonym: "SEMD, MATN3-related" EXACT [OMIM:608728, Orphanet:156728] synonym: "SEMD, matrilin-3 type" EXACT [Orphanet:156728] synonym: "spondyloepimetaphyseal dysplasia matrilin-3 related" RELATED [GARD:0010611] synonym: "spondyloepimetaphyseal dysplasia matrilin-3 type" RELATED [GARD:0010611] -synonym: "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" EXACT [OMIM:608728, OMIM:genemap2] -synonym: "spondyloepimetaphyseal dysplasia, matrilin-3 related" RELATED [OMIM:608728] +synonym: "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" EXACT [OMIM:608728] +synonym: "spondyloepimetaphyseal dysplasia, matrilin-3 related" RELATED [] xref: GARD:10611 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:156728/attributed", source="Orphanet:156728/ntbt", source="Orphanet:156728"} xref: icd11.foundation:1983063881 {source="MONDO:equivalentTo"} @@ -274853,8 +274901,8 @@ id: MONDO:0012109 name: hypertension, essential, susceptibility to, 4 subset: predisposition synonym: "hypertension, essential, susceptibility to, 4" EXACT [OMIM:608742] -synonym: "hypertension, essential, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608742] -synonym: "Hyt4" RELATED [OMIM:608742] +synonym: "hypertension, essential, susceptibility to, type 4" EXACT [MONDORULE:1] +synonym: "Hyt4" RELATED [] xref: MEDGEN:325180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608742 {source="MONDO:equivalentTo"} xref: UMLS:C1837479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:325180"} @@ -274874,14 +274922,14 @@ subset: ordo_disorder {source="Orphanet:73272"} subset: orphanet_rare {source="Orphanet:73272"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "growth delay-deafness- intellectual disability syndrome" EXACT [Orphanet:73272] -synonym: "growth retardation with deafness and mental retardation due to IGF1 deficiency" EXACT [OMIM:608747, OMIM:genemap2] -synonym: "growth retardation with sensorineural deafness and intellectual disability" RELATED [OMIM:608747] -synonym: "growth retardation with sensorineural deafness and mental retardation" RELATED DEPRECATED [OMIM:608747] +synonym: "growth delay-deafness- intellectual disability syndrome" EXACT [] +synonym: "growth retardation with deafness and mental retardation due to IGF1 deficiency" EXACT [] +synonym: "growth retardation with sensorineural deafness and intellectual disability" RELATED [] +synonym: "growth retardation with sensorineural deafness and mental retardation" RELATED DEPRECATED [] synonym: "IGF-1 deficiency" EXACT [Orphanet:73272] -synonym: "IGF1 deficiency" RELATED [OMIM:608747] -synonym: "insulin-like growth Factor 1 deficiency" RELATED [OMIM:608747] -synonym: "insulin-like growth factor I deficiency" RELATED [OMIM:608747] +synonym: "IGF1 deficiency" RELATED [] +synonym: "insulin-like growth Factor 1 deficiency" RELATED [] +synonym: "insulin-like growth factor I deficiency" RELATED [] synonym: "primary insulin-like growth factor deficiency" EXACT [Orphanet:73272] xref: GARD:10627 {source="MONDO:GARD"} xref: ICD10CM:E34.3 {source="Orphanet:73272/attributed", source="Orphanet:73272/ntbt", source="Orphanet:73272"} @@ -274904,13 +274952,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy hypertrophic mid-left ventricular chamber type 1" EXACT [DOID:0110314] synonym: "cardiomyopathy, familial hypertrophic, 8" EXACT [DOID:0110314, MONDO:Lexical, OMIM:608751] -synonym: "cardiomyopathy, familial hypertrophic, type 8" EXACT [MONDORULE:1, OMIM:608751] -synonym: "cardiomyopathy, hypertrophic, 8" EXACT [OMIM:608751, OMIM:genemap2] -synonym: "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1" RELATED [OMIM:608751] -synonym: "CMH8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608751] -synonym: "hypertrophic cardiomyopathy 8" EXACT CLINGEN_LABEL [] +synonym: "cardiomyopathy, familial hypertrophic, type 8" EXACT [MONDORULE:1] +synonym: "cardiomyopathy, hypertrophic, 8" EXACT [] +synonym: "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1" RELATED [] +synonym: "CMH8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypertrophic cardiomyopathy 8" EXACT CLINGEN_LABEL [DOID:0110314] synonym: "hypertrophic cardiomyopathy caused by mutation in MYL3" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 8" EXACT [DOID:0110314, MONDORULE:1] +synonym: "hypertrophic cardiomyopathy type 8" EXACT [MONDORULE:1] synonym: "MYL3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110314 {source="MONDO:equivalentTo"} xref: MEDGEN:324806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -274935,13 +274983,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathy, familial hypertrophic, 10" EXACT [DOID:0110316, MONDO:Lexical, OMIM:608758] -synonym: "cardiomyopathy, familial hypertrophic, type 10" EXACT [MONDORULE:2, OMIM:608758] -synonym: "cardiomyopathy, hypertrophic, 10" EXACT [OMIM:608758, OMIM:genemap2] -synonym: "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2" RELATED [OMIM:608758] +synonym: "cardiomyopathy, familial hypertrophic, type 10" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, hypertrophic, 10" EXACT [] +synonym: "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2" RELATED [] synonym: "CMH10" EXACT ABBREVIATION [DOID:0110316, MONDO:Lexical, OMIM:608758] -synonym: "hypertrophic cardiomyopathy 10" EXACT CLINGEN_LABEL [] +synonym: "hypertrophic cardiomyopathy 10" EXACT CLINGEN_LABEL [DOID:0110316] synonym: "hypertrophic cardiomyopathy caused by mutation in MYL2" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 10" EXACT [DOID:0110316, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 10" EXACT [MONDORULE:2] synonym: "MYL2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110316 {source="MONDO:equivalentTo"} xref: MEDGEN:331754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -274961,7 +275009,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012113 name: epilepsy, idiopathic generalized, susceptibility to, 3 subset: predisposition -synonym: "EIG3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608762] +synonym: "EIG3" EXACT ABBREVIATION [DOID:0111318, MONDO:Lexical, OMIM:608762] synonym: "epilepsy, idiopathic generalized, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608762] synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9" EXACT [OMIM:608762] xref: DOID:0111318 {source="MONDO:equivalentTo"} @@ -274979,8 +275027,8 @@ name: Ehlers-Danlos syndrome, Beasley-Cohen type subset: gard_rare {source="GARD:10102", source="MONDO:GARD"} subset: n_of_one {source="PMID:477010"} subset: rare -synonym: "Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract" RELATED [OMIM:608763] -synonym: "Ehlers-Danlos syndrome with mental retardation, deafness, and cataract" RELATED DEPRECATED [OMIM:608763] +synonym: "Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract" RELATED [] +synonym: "Ehlers-Danlos syndrome with mental retardation, deafness, and cataract" RELATED DEPRECATED [] synonym: "Ehlers-Danlos syndrome, Beasley-Cohen type" EXACT [OMIM:608763] xref: GARD:10102 {source="MONDO:GARD"} xref: MEDGEN:332459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -275012,8 +275060,8 @@ subset: orphanet_rare {source="Orphanet:98760"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608768, Orphanet:98760] -synonym: "spinocerebellar ataxia 8" RELATED [MONDO:Lexical, OMIM:608768] -synonym: "spinocerebellar ataxia type 8" EXACT [MONDORULE:1, OMIM:608768] +synonym: "spinocerebellar ataxia 8" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 8" EXACT [DOID:0050959, icd11.foundation:1735913595, MONDORULE:1, Orphanet:98760] xref: DOID:0050959 {source="MONDO:equivalentTo"} xref: GARD:4956 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:98760/attributed", source="Orphanet:98760/ntbt", source="Orphanet:98760"} @@ -275039,16 +275087,16 @@ subset: rare synonym: "ALG9-CDG" EXACT ABBREVIATION [Orphanet:79328] synonym: "ALG9-CDG (CDG-IL)" RELATED [GARD:0009839] synonym: "ALG9-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] -synonym: "carbohydrate deficient glycoprotein syndrome type 1L" EXACT [Orphanet:79328] +synonym: "carbohydrate deficient glycoprotein syndrome type 1L" EXACT [] synonym: "carbohydrate deficient glycoprotein syndrome type IL" RELATED [GARD:0009839] synonym: "CDG 1L" RELATED [GARD:0009839] -synonym: "CDG IL" RELATED [OMIM:608776] +synonym: "CDG IL" RELATED [] synonym: "CDG syndrome type IL" EXACT [Orphanet:79328] -synonym: "CDG-IL" EXACT [Orphanet:79328] +synonym: "CDG-IL" EXACT ABBREVIATION [Orphanet:79328] synonym: "CDG1L" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608776, Orphanet:79328] synonym: "congenital disorder of glycosylation type 1L" EXACT [Orphanet:79328] synonym: "congenital disorder of glycosylation type IL" RELATED [GARD:0009839] -synonym: "congenital disorder of glycosylation, type IL" RELATED [MONDO:Lexical, OMIM:608776] +synonym: "congenital disorder of glycosylation, type IL" RELATED [MONDO:Lexical] synonym: "mannosyltransferase 7-9 deficiency" EXACT [Orphanet:79328] xref: DOID:0080564 {source="MONDO:equivalentTo"} xref: GARD:9839 {source="MONDO:GARD"} @@ -275076,18 +275124,18 @@ subset: ordo_disorder {source="Orphanet:79333"} subset: orphanet_rare {source="Orphanet:79333"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carbohydrate deficient glycoprotein syndrome type IIe" EXACT [Orphanet:79333] +synonym: "carbohydrate deficient glycoprotein syndrome type IIe" EXACT [DOID:0070257, Orphanet:79333] synonym: "CDG 2E" RELATED [GARD:0009842] -synonym: "CDG IIe" RELATED [OMIM:608779] -synonym: "CDG syndrome type IIe" EXACT [Orphanet:79333] +synonym: "CDG IIe" RELATED [] +synonym: "CDG syndrome type IIe" EXACT [DOID:0070257, Orphanet:79333] synonym: "CDG-IIe" EXACT [Orphanet:79333] -synonym: "CDG2E" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608779, Orphanet:79333] -synonym: "COG7-CDG" EXACT ABBREVIATION [Orphanet:79333] +synonym: "CDG2E" EXACT ABBREVIATION [DOID:0070257, MONDO:Lexical, OMIM:608779, Orphanet:79333] +synonym: "COG7-CDG" EXACT ABBREVIATION [DOID:0070257, Orphanet:79333] synonym: "COG7-CDG (CDG-IIe)" RELATED [GARD:0009842] synonym: "COG7-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] synonym: "congenital disorder of glycosylation type 2e" EXACT [Orphanet:79333] -synonym: "congenital disorder of glycosylation type IIe" EXACT [Orphanet:79333] -synonym: "congenital disorder of glycosylation, type IIe" RELATED [MONDO:Lexical, OMIM:608779] +synonym: "congenital disorder of glycosylation type IIe" EXACT [DOID:0070257, Orphanet:79333] +synonym: "congenital disorder of glycosylation, type IIe" RELATED [MONDO:Lexical] xref: DOID:0070257 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:9842 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:79333/attributed", source="Orphanet:79333/ntbt", source="Orphanet:79333"} @@ -275111,8 +275159,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012119 name: asperger syndrome, susceptibility to, 3 subset: predisposition -synonym: "Asperger syndrome susceptibility 3" EXACT [OMIM:608781, OMIM:genemap2] -synonym: "ASPERGER syndrome, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:608781] +synonym: "Asperger syndrome susceptibility 3" EXACT [] +synonym: "ASPERGER syndrome, susceptibility to, 3" RELATED [MONDO:Lexical] synonym: "ASPG3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608781] xref: MEDGEN:373329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608781 {source="MONDO:equivalentTo"} @@ -275134,10 +275182,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79246"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lactic acidemia with pyruvate dehydrogenase phosphatase deficiency" RELATED [OMIM:608782] +synonym: "lactic acidemia with pyruvate dehydrogenase phosphatase deficiency" RELATED [] synonym: "PDH phosphatase deficiency" EXACT [Orphanet:79246] -synonym: "PDHPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608782] -synonym: "pyruvate dehydrogenase phosphatase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608782] +synonym: "PDHPD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pyruvate dehydrogenase phosphatase deficiency" EXACT CLINGEN_LABEL [icd11.foundation:1709497558, MONDO:Lexical, OMIM:608782, Orphanet:79246] xref: GARD:9888 {source="MONDO:GARD"} xref: ICD10CM:E74.4 {source="Orphanet:79246/attributed", source="Orphanet:79246/ntbt", source="Orphanet:79246"} xref: icd11.foundation:1709497558 {source="MONDO:equivalentTo"} @@ -275156,8 +275204,8 @@ id: MONDO:0012121 name: otosclerosis 5 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "otosclerosis 5" EXACT [MONDO:Lexical, OMIM:608787] -synonym: "OTSC5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608787] +synonym: "otosclerosis 5" EXACT [DOID:0060924, MONDO:Lexical, OMIM:608787] +synonym: "OTSC5" EXACT ABBREVIATION [DOID:0060924, MONDO:Lexical, OMIM:608787] xref: DOID:0060924 {source="MONDO:equivalentTo"} xref: MEDGEN:325168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563858 {source="MONDO:equivalentTo"} @@ -275173,7 +275221,7 @@ name: moyamoya disease 3 subset: gard_rare {source="GARD:15442", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Moyamoya disease 3" RELATED [MONDO:Lexical, OMIM:608796] +synonym: "Moyamoya disease 3" RELATED [MONDO:Lexical] synonym: "MYMY3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608796] xref: GARD:15442 {source="MONDO:GARD"} xref: MEDGEN:373326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -275197,19 +275245,19 @@ subset: rare synonym: "carbohydrate deficient glycoprotein syndrome type Ie" EXACT [Orphanet:79322] synonym: "carbohydrate-deficient glycoprotein syndrome type 1E" RELATED [GARD:0009831] synonym: "CDG 1E" RELATED [GARD:0009831] -synonym: "CDG Ie" RELATED [OMIM:608799] +synonym: "CDG Ie" RELATED [] synonym: "CDG syndrome type Ie" EXACT [Orphanet:79322] synonym: "CDG-Ie" EXACT [Orphanet:79322] synonym: "CDG1E" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608799, Orphanet:79322] synonym: "CDGIe" EXACT [NCIT:C126871] synonym: "congenital disorder of glycosylation caused by mutation in DPM1" EXACT [MONDO:design_pattern] -synonym: "congenital disorder of glycosylation type 1E" EXACT CLINGEN_LABEL [] +synonym: "congenital disorder of glycosylation type 1E" EXACT CLINGEN_LABEL [Orphanet:79322] synonym: "congenital disorder of glycosylation type 1e" EXACT [Orphanet:79322] -synonym: "congenital disorder of glycosylation type Ie" EXACT [Orphanet:79322] -synonym: "congenital disorder of glycosylation, type Ie" RELATED [MONDO:Lexical, OMIM:608799] +synonym: "congenital disorder of glycosylation type Ie" EXACT [NCIT:C126871, Orphanet:79322] +synonym: "congenital disorder of glycosylation, type Ie" RELATED [MONDO:Lexical] synonym: "Dol-P-mannosyltransferase deficiency" EXACT [Orphanet:79322] synonym: "DPM1 congenital disorder of glycosylation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DPM1-CDG" RELATED [Orphanet:79322] +synonym: "DPM1-CDG" RELATED [] synonym: "DPM1-CDG (CDG-Ie)" RELATED [GARD:0009831] xref: DOID:0080557 {source="MONDO:equivalentTo"} xref: GARD:9831 {source="MONDO:GARD"} @@ -275244,7 +275292,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SIDDT" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608800, Orphanet:168593] synonym: "sudden infant death - dysgenesis of the testes" RELATED [GARD:0012382] -synonym: "sudden infant death with dysgenesis of the testes syndrome" RELATED [MONDO:Lexical, OMIM:608800] +synonym: "sudden infant death with dysgenesis of the testes syndrome" RELATED [MONDO:Lexical] xref: GARD:12382 {source="MONDO:GARD"} xref: ICD10CM:G90.8 {source="Orphanet:168593/attributed", source="Orphanet:168593/ntbt", source="Orphanet:168593"} xref: MEDGEN:332428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -275267,13 +275315,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "GJC2 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HLD2" EXACT ABBREVIATION [DOID:0060787, MONDO:Lexical, OMIM:608804] -synonym: "hypomyelinating leukodystrophy type 2" EXACT [DOID:0060787, MONDORULE:1] +synonym: "hypomyelinating leukodystrophy type 2" EXACT [MONDORULE:1] synonym: "leukodystrophy caused by mutation in GJC2" EXACT [MONDO:design_pattern] -synonym: "leukodystrophy, hypomyelinating, 2" RELATED [MONDO:Lexical, OMIM:608804] -synonym: "leukodystrophy, hypomyelinating, type 2" EXACT [MONDORULE:1, OMIM:608804] +synonym: "leukodystrophy, hypomyelinating, 2" RELATED [MONDO:Lexical] +synonym: "leukodystrophy, hypomyelinating, type 2" EXACT [MONDORULE:1] synonym: "Pelizaeus-Merzbacher-like disease 1" EXACT [DOID:0060787] -synonym: "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" EXACT [DOID:0060787] -synonym: "Pelizaeus-Merzbacher-like disease, 1" RELATED [OMIM:608804] +synonym: "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" EXACT [DOID:0060787, Orphanet:280282] +synonym: "Pelizaeus-Merzbacher-like disease, 1" RELATED [] synonym: "PMLD1" EXACT ABBREVIATION [DOID:0060787, Orphanet:280282] xref: DOID:0060787 {source="MONDO:equivalentTo"} xref: GARD:17293 {source="MONDO:GARD"} @@ -275301,20 +275349,20 @@ subset: orphanet_rare {source="Orphanet:86820"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "ANFH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608805] -synonym: "ANFH1" RELATED ABBREVIATION [OMIM:608805] +synonym: "ANFH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ANFH1" RELATED ABBREVIATION [] synonym: "aseptic Necrosis of femoral head" EXACT [NCIT:C35480] synonym: "aseptic Necrosis of head of femur" EXACT [NCIT:C35480] -synonym: "avascular NECROSIS of femoral head, primary" RELATED [MONDO:Lexical, OMIM:608805] -synonym: "avascular NECROSIS of femoral head, primary, 1" RELATED [OMIM:608805] -synonym: "avascular Necrosis of femoral head, primary, 1" RELATED [OMIM:608805] +synonym: "avascular NECROSIS of femoral head, primary" RELATED [MONDO:Lexical] +synonym: "avascular NECROSIS of femoral head, primary, 1" RELATED [] +synonym: "avascular Necrosis of femoral head, primary, 1" RELATED [] synonym: "familial avascular necrosis of the femoral head" RELATED [GARD:0010914] synonym: "familial osteonecrosis of the femoral head" EXACT [Orphanet:86820] -synonym: "femoral head, aseptic Necrosis of" RELATED [OMIM:608805] -synonym: "femoral head, avascular Necrosis of" RELATED [OMIM:608805] +synonym: "femoral head, aseptic Necrosis of" RELATED [] +synonym: "femoral head, avascular Necrosis of" RELATED [] synonym: "ischaemic Necrosis of femoral head" RELATED OMO:0003005 [] -synonym: "ischemic Necrosis of femoral head" RELATED [OMIM:608805] -synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805] +synonym: "ischemic Necrosis of femoral head" RELATED [] +synonym: "osteonecrosis of femoral head" RELATED [] synonym: "primary avascular necrosis of the femoral head" RELATED [GARD:0010914] xref: GARD:10914 {source="MONDO:GARD"} xref: ICD10CM:M87.8 {source="Orphanet:86820/attributed", source="Orphanet:86820/ntbt", source="Orphanet:86820"} @@ -275345,9 +275393,9 @@ subset: orphanet_rare {source="Orphanet:140922"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN" EXACT [MONDO:design_pattern] -synonym: "LGMD2J" EXACT ABBREVIATION [DOID:0110283, MONDO:Lexical, OMIM:608807, Orphanet:140922] +synonym: "LGMD2J" EXACT ABBREVIATION [DOID:0110283, MONDO:Lexical, Orphanet:140922] synonym: "limb-girdle muscular dystrophy type 2J" RELATED [GARD:0012534] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 10" EXACT [OMIM:608807, OMIM:genemap2] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 10" EXACT [OMIM:608807] synonym: "muscular dystrophy, limb-girdle, type 2J" EXACT [DOID:0110283, MONDO:Lexical, OMIM:608807] synonym: "TTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110283 {source="MONDO:equivalentTo"} @@ -275374,15 +275422,15 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: rare -synonym: "D-TGA" RELATED [OMIM:608808] -synonym: "dextro-looped transposition of the great arteries 1" EXACT [DOID:0060770] +synonym: "D-TGA" RELATED [] +synonym: "dextro-looped transposition of the great arteries 1" EXACT [] synonym: "dextro-looped transposition of the great arteries caused by mutation in MED13L" EXACT [MONDO:design_pattern] -synonym: "dextro-looped transposition of the great arteries type 1" EXACT [DOID:0060771, MONDORULE:1] +synonym: "dextro-looped transposition of the great arteries type 1" EXACT [MONDORULE:1] synonym: "DTGA" EXACT ABBREVIATION [OMIM:608808] -synonym: "DTGA1" EXACT ABBREVIATION [DOID:0060771, MONDO:Lexical, OMIM:608808] +synonym: "DTGA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608808] synonym: "MED13L dextro-looped transposition of the great arteries" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "transposition of the great arteries, dextro-looped 1" RELATED [MONDO:Lexical, OMIM:608808] -synonym: "transposition of the great arteries, dextro-looped type 1" EXACT [MONDORULE:1, OMIM:608808] +synonym: "transposition of the great arteries, dextro-looped 1" RELATED [MONDO:Lexical] +synonym: "transposition of the great arteries, dextro-looped type 1" EXACT [MONDORULE:1] xref: DOID:0060771 {source="MONDO:equivalentObsolete"} xref: ICD10CM:Q20.3 {source="DOID:0060771"} xref: MEDGEN:332422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -275401,7 +275449,7 @@ property_value: IAO:0006012 "2025-02-01" xsd:string [Term] id: MONDO:0012129 name: leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema -synonym: "LACH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608809] +synonym: "LACH" RELATED ABBREVIATION [MONDO:Lexical] synonym: "leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" EXACT [MONDO:Lexical, OMIM:608809] xref: MEDGEN:324768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563852 {source="MONDO:equivalentTo"} @@ -275420,18 +275468,18 @@ subset: ordo_disorder {source="Orphanet:399058"} subset: orphanet_rare {source="Orphanet:399058"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alpha-B crystallin-related late-onset distal myopathy" RELATED [Orphanet:399058] -synonym: "alpha-B crystallinopathy" EXACT [DOID:0080093] +synonym: "alpha-B crystallin-related late-onset distal myopathy" RELATED [] +synonym: "alpha-B crystallinopathy" EXACT [DOID:0080093, OMIM:608810] synonym: "autosomal dominant distal myopathy caused by mutation in CRYAB" EXACT [MONDO:design_pattern] synonym: "CRYAB autosomal dominant distal myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "late-onset distal crystallinopathy" EXACT [Orphanet:399058] -synonym: "MFM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608810] -synonym: "myofibrillar myopathy type 2" EXACT [DOID:0080093, MONDORULE:1] -synonym: "myopathy, desmin-related, associated with mutation in the Cryab Gene" RELATED [OMIM:608810] -synonym: "myopathy, myofibrillar, 2" RELATED [MONDO:Lexical, OMIM:608810] -synonym: "myopathy, myofibrillar, alpha-B crystallin-related" RELATED [OMIM:608810] -synonym: "myopathy, myofibrillar, type 2" EXACT [MONDORULE:1, OMIM:608810] -synonym: "myopathy, myofibrillar, with or without cataract and/or cardiomyopathy" RELATED [OMIM:608810] +synonym: "MFM2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myofibrillar myopathy type 2" EXACT [MONDORULE:1] +synonym: "myopathy, desmin-related, associated with mutation in the Cryab Gene" RELATED [] +synonym: "myopathy, myofibrillar, 2" RELATED [MONDO:Lexical] +synonym: "myopathy, myofibrillar, alpha-B crystallin-related" RELATED [] +synonym: "myopathy, myofibrillar, type 2" EXACT [MONDORULE:1] +synonym: "myopathy, myofibrillar, with or without cataract and/or cardiomyopathy" RELATED [] xref: DOID:0080093 {source="MONDO:equivalentTo"} xref: GARD:17651 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:399058/attributed", source="Orphanet:399058/ntbt", source="Orphanet:399058"} @@ -275477,14 +275525,14 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare -synonym: "colorectal adenoma and cancer, susceptibility to" RELATED [OMIM:608812] +synonym: "colorectal adenoma and cancer, susceptibility to" RELATED [] synonym: "colorectal cancer caused by mutation in GALNT12" EXACT [MONDO:design_pattern] synonym: "colorectal cancer, susceptibility to, 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:608812] -synonym: "colorectal cancer, susceptibility to, on chromosome 9" RELATED [OMIM:608812] -synonym: "colorectal cancer, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:608812] -synonym: "CRCS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608812] +synonym: "colorectal cancer, susceptibility to, on chromosome 9" RELATED [] +synonym: "colorectal cancer, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "CRCS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "GALNT12 colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to colorectal cancer 1" RELATED [OMIM:608812] +synonym: "susceptibility to colorectal cancer 1" RELATED [] xref: MEDGEN:324734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608812 {source="MONDO:equivalentTo"} xref: UMLS:C1837315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:324734"} @@ -275509,8 +275557,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10067/latera id: MONDO:0012134 name: myoclonic epilepsy, juvenile, susceptibility to, 3 subset: predisposition -synonym: "EJM3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608816] -synonym: "epilepsy, juvenile myoclonic 3" EXACT [OMIM:608816, OMIM:genemap2] +synonym: "EJM3" EXACT ABBREVIATION [DOID:0111326, MONDO:Lexical, OMIM:608816] +synonym: "epilepsy, juvenile myoclonic 3" EXACT [] synonym: "myoclonic epilepsy, juvenile, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:608816] xref: DOID:0111326 {source="MONDO:equivalentTo"} xref: MEDGEN:324732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -275526,7 +275574,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012135 name: restless legs syndrome, susceptibility to, 2 subset: predisposition -synonym: "restless legs syndrome 2" EXACT [OMIM:608831, OMIM:genemap2] +synonym: "restless legs syndrome 2" EXACT [] synonym: "restless legs syndrome, susceptibility to, 2" EXACT [OMIM:608831] synonym: "RLS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608831] xref: MEDGEN:324722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -275550,14 +275598,14 @@ subset: rare synonym: "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form" EXACT [Orphanet:228308] synonym: "Carnitine palmitoyl transferase deficiency type 2, neonatal form" EXACT [Orphanet:228308] synonym: "Carnitine palmitoyl transferase II deficiency, lethal systemic form" EXACT [Orphanet:228308] -synonym: "carnitine palmitoyl transferase II deficiency, neonatal form" EXACT CLINGEN_LABEL [] -synonym: "Carnitine Palmitoyltransferase 2 deficiency, antenatal" RELATED [OMIM:608836] -synonym: "Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal" RELATED [OMIM:608836] -synonym: "Carnitine Palmitoyltransferase 2 deficiency, neonatal" RELATED [OMIM:608836] -synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal" RELATED [OMIM:608836] -synonym: "CPT 2 deficiency, lethal neonatal" RELATED [OMIM:608836] -synonym: "CPT II deficiency, lethal neonatal" EXACT [OMIM:608836, OMIM:genemap2] -synonym: "Cpt2 deficiency, lethal neonatal" RELATED [OMIM:608836] +synonym: "carnitine palmitoyl transferase II deficiency, neonatal form" EXACT CLINGEN_LABEL [Orphanet:228308] +synonym: "Carnitine Palmitoyltransferase 2 deficiency, antenatal" RELATED [] +synonym: "Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal" RELATED [] +synonym: "Carnitine Palmitoyltransferase 2 deficiency, neonatal" RELATED [] +synonym: "CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal" RELATED [] +synonym: "CPT 2 deficiency, lethal neonatal" RELATED [] +synonym: "CPT II deficiency, lethal neonatal" EXACT [] +synonym: "Cpt2 deficiency, lethal neonatal" RELATED [] synonym: "CPT2, lethal systemic form" EXACT [Orphanet:228308] synonym: "CPT2, neonatal form" EXACT [Orphanet:228308] synonym: "CPTII, lethal systemic form" EXACT [Orphanet:228308] @@ -275585,8 +275633,8 @@ subset: ordo_disorder {source="Orphanet:319340"} subset: orphanet_rare {source="Orphanet:319340"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CARNEY complex variant" RELATED [OMIM:608837] -synonym: "Carney complex variant" EXACT [Orphanet:319340] +synonym: "CARNEY complex variant" RELATED [] +synonym: "Carney complex variant" EXACT [OMIM:608837, Orphanet:319340] xref: GARD:17448 {source="MONDO:GARD"} xref: ICD10CM:Q68.8 {source="Orphanet:319340", source="Orphanet:319340/attributed", source="Orphanet:319340/ntbt"} xref: MEDGEN:332400 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -275609,10 +275657,10 @@ synonym: "congenital muscular dystrophy large-related" EXACT [DOID:0110637] synonym: "congenital muscular dystrophy type 1D" EXACT [DOID:0110637] synonym: "MDC1D" EXACT ABBREVIATION [DOID:0110637] synonym: "MDDGB6" EXACT ABBREVIATION [DOID:0110637, MONDO:Lexical, OMIM:608840] -synonym: "muscular dystrophy, congenital, large-related" RELATED [OMIM:608840] -synonym: "muscular dystrophy, congenital, type 1D" RELATED [OMIM:608840] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6" EXACT [DOID:0110637, MONDO:Lexical, OMIM:608840] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6" EXACT DEPRECATED [DOID:0110637, MONDO:Lexical, OMIM:608840] +synonym: "muscular dystrophy, congenital, large-related" RELATED [] +synonym: "muscular dystrophy, congenital, type 1D" RELATED [] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6" EXACT [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6" EXACT DEPRECATED [DOID:0110637, MONDO:Lexical] xref: DOID:0110637 {source="MONDO:equivalentTo"} xref: ICD10CM:G71.2 {source="DOID:0110637"} xref: MEDGEN:373284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -275631,9 +275679,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "macular dystrophy, retinal, 3" EXACT [OMIM:608850] -synonym: "macular dystrophy, retinal, type 3" EXACT [MONDORULE:1, OMIM:608850] -synonym: "MCDR3" RELATED ABBREVIATION [OMIM:608850] -synonym: "Mcdr3" RELATED [OMIM:608850] +synonym: "macular dystrophy, retinal, type 3" EXACT [MONDORULE:1] +synonym: "MCDR3" RELATED ABBREVIATION [] +synonym: "Mcdr3" RELATED [] xref: DOID:0070440 {source="MONDO:equivalentTo"} xref: MEDGEN:854716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608850 {source="MONDO:equivalentTo"} @@ -275643,9 +275691,9 @@ is_a: MONDO:0031166 {source="DOID:0070440", source="OMIM:608850"} ! macular dyst [Term] id: MONDO:0012140 name: obsolete pulmonary function -synonym: "lung function, accelerated rate of decline In, smoking-related" RELATED [OMIM:608852] -synonym: "Plf" RELATED [OMIM:608852] -synonym: "pulmonary function" RELATED [OMIM:608852] +synonym: "lung function, accelerated rate of decline In, smoking-related" RELATED [] +synonym: "Plf" RELATED [] +synonym: "pulmonary function" RELATED [] xref: OMIM:608852 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -275654,13 +275702,13 @@ id: MONDO:0012141 name: orofacial cleft 6, susceptibility to def: "Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "cleft lip with or without cleft palate, nonsyndromic, 6" RELATED [OMIM:608864] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 6" RELATED [] synonym: "IRF6 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "OFC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608864] -synonym: "orofacial cleft 6" EXACT [OMIM:608864, OMIM:genemap2] +synonym: "OFC6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "orofacial cleft 6" EXACT [DOID:0080593] synonym: "orofacial cleft 6, susceptibility to" EXACT [MONDO:Lexical, OMIM:608864] synonym: "orofacial cleft caused by mutation in IRF6" EXACT [MONDO:design_pattern] -synonym: "susceptibility to orofacial cleft 6" RELATED [OMIM:608864] +synonym: "susceptibility to orofacial cleft 6" RELATED [] xref: DOID:0080593 {source="MONDO:equivalentTo"} xref: MEDGEN:332391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608864 {source="MONDO:equivalentTo"} @@ -275678,12 +275726,12 @@ name: orofacial cleft 5 def: "Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18305", source="MONDO:GARD"} subset: rare -synonym: "cleft lip with or without cleft palate, nonsyndromic, 5" RELATED [OMIM:608874] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 5" RELATED [] synonym: "MSX1 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "OFC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608874] -synonym: "orofacial cleft 5" EXACT [MONDO:Lexical, OMIM:608874] +synonym: "OFC5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "orofacial cleft 5" EXACT [DOID:0080399, MONDO:Lexical, OMIM:608874] synonym: "orofacial cleft caused by mutation in MSX1" EXACT [MONDO:design_pattern] -synonym: "orofacial cleft type 5" EXACT [MONDORULE:1, OMIM:608874] +synonym: "orofacial cleft type 5" EXACT [MONDORULE:1] xref: DOID:0080399 {source="MONDO:equivalentTo"} xref: GARD:18305 {source="MONDO:GARD"} xref: MEDGEN:373280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -275710,14 +275758,14 @@ subset: orphanet_rare {source="Orphanet:168577"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ChC type 2" EXACT [Orphanet:168577] -synonym: "cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly" RELATED [OMIM:608885] -synonym: "cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly" RELATED DEPRECATED [OMIM:608885] -synonym: "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis" RELATED [OMIM:608885] +synonym: "cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly" RELATED [] +synonym: "cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly" RELATED DEPRECATED [] +synonym: "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis" RELATED [] synonym: "hereditary cryohydrocytosis type 2" EXACT [Orphanet:168577] synonym: "sdCHC" EXACT [Orphanet:168577] -synonym: "SDCHCN" RELATED ABBREVIATION [OMIM:608885] +synonym: "SDCHCN" RELATED ABBREVIATION [] synonym: "stomatin-deficient cryohydrocytosis" EXACT [Orphanet:168577] -synonym: "stomatin-deficient cryohydrocytosis with neurologic defects" RELATED [OMIM:608885] +synonym: "stomatin-deficient cryohydrocytosis with neurologic defects" RELATED [] xref: GARD:17036 {source="MONDO:GARD"} xref: ICD10CM:D58.8 {source="Orphanet:168577/attributed", source="Orphanet:168577/ntbt", source="Orphanet:168577"} xref: icd11.foundation:1459095719 {source="MONDO:equivalentTo"} @@ -275741,9 +275789,9 @@ subset: inferred_rare subset: rare synonym: "SNAI2 Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Waardenburg syndrome type 2 caused by mutation in SNAI2" EXACT [MONDO:design_pattern] -synonym: "Waardenburg syndrome type IID" EXACT [DOID:0110952] -synonym: "Waardenburg syndrome, type 2D" RELATED [MONDO:Lexical, OMIM:608890] -synonym: "WS2D" EXACT ABBREVIATION [DOID:0110952, MONDO:Lexical, OMIM:608890] +synonym: "Waardenburg syndrome type IID" EXACT [] +synonym: "Waardenburg syndrome, type 2D" RELATED [MONDO:Lexical] +synonym: "WS2D" EXACT ABBREVIATION [MONDO:Lexical] xref: DOID:0110952 {source="MONDO:equivalentTo"} xref: MEDGEN:323102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563839 {source="MONDO:equivalentTo"} @@ -275765,13 +275813,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "age-related macular degeneration caused by mutation in FBLN5" EXACT [MONDO:design_pattern] -synonym: "ARMD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608895] +synonym: "ARMD3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "FBLN5 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HNARMD" RELATED ABBREVIATION [OMIM:608895] +synonym: "HNARMD" RELATED ABBREVIATION [] synonym: "macular degeneration, age-related, 3" EXACT [MONDO:Lexical, OMIM:608895] -synonym: "macular Degeneration, age-related, type 3" EXACT [MONDORULE:1, OMIM:608895] -synonym: "neuropathy, hereditary, with or without age-related macular Degeneration" RELATED [OMIM:608895] -synonym: "neuropathy, hereditary, with or without age-related macular degeneration" RELATED [OMIM:608895] +synonym: "macular Degeneration, age-related, type 3" EXACT [MONDORULE:1] +synonym: "neuropathy, hereditary, with or without age-related macular Degeneration" RELATED [] +synonym: "neuropathy, hereditary, with or without age-related macular degeneration" RELATED [] xref: MEDGEN:373276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563838 {source="MONDO:equivalentTo"} xref: OMIM:608895 {source="MONDO:equivalentTo"} @@ -275789,15 +275837,15 @@ def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the d subset: gard_rare {source="GARD:9928", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "familial hemophagocytic lymphohistiocytosis type 3" EXACT [DOID:0110923, MONDORULE:1] +synonym: "familial hemophagocytic lymphohistiocytosis type 3" EXACT [MONDORULE:1] synonym: "FHL3" EXACT ABBREVIATION [DOID:0110923, MONDO:Lexical, OMIM:608898] synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D" EXACT [MONDO:design_pattern] -synonym: "hemophagocytic lymphohistiocytosis, familial, 3" RELATED [MONDO:Lexical, OMIM:608898] -synonym: "hemophagocytic lymphohistiocytosis, familial, type 3" EXACT [MONDORULE:1, OMIM:608898] -synonym: "HLH3" EXACT ABBREVIATION [DOID:0110923] -synonym: "Hlh3" RELATED [OMIM:608898] -synonym: "HPLH3" EXACT ABBREVIATION [DOID:0110923] -synonym: "Hplh3" RELATED [OMIM:608898] +synonym: "hemophagocytic lymphohistiocytosis, familial, 3" RELATED [MONDO:Lexical] +synonym: "hemophagocytic lymphohistiocytosis, familial, type 3" EXACT [MONDORULE:1] +synonym: "HLH3" EXACT ABBREVIATION [DOID:0110923, OMIM:608898] +synonym: "Hlh3" RELATED [] +synonym: "HPLH3" EXACT ABBREVIATION [DOID:0110923, OMIM:608898] +synonym: "Hplh3" RELATED [] synonym: "UNC13D genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110923 {source="MONDO:equivalentTo"} xref: GARD:9928 {source="MONDO:GARD"} @@ -275818,13 +275866,13 @@ id: MONDO:0012147 name: coronary heart disease, susceptibility to, 5 def: "Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "Chds5" RELATED [OMIM:608901] +synonym: "Chds5" RELATED [] synonym: "coronary artery disease caused by mutation in KALRN" EXACT [MONDO:design_pattern] -synonym: "coronary artery disease, early-onset" RELATED [OMIM:608901] +synonym: "coronary artery disease, early-onset" RELATED [] synonym: "coronary heart disease, susceptibility to, 5" EXACT [OMIM:608901] -synonym: "coronary heart disease, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:608901] +synonym: "coronary heart disease, susceptibility to, type 5" EXACT [MONDORULE:1] synonym: "KALRN coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to coronary heart disease 5" RELATED [OMIM:608901] +synonym: "susceptibility to coronary heart disease 5" RELATED [] xref: MEDGEN:323093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608901 {source="MONDO:equivalentTo"} xref: UMLS:C1837173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:323093"} @@ -275836,15 +275884,15 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012148 name: obsolete drug metabolism, poor, CYP2D6-related -synonym: "codeine sensitivity" EXACT [OMIM:608902, OMIM:genemap2] -synonym: "codeine, ultrarapid metabolism of" RELATED [OMIM:608902] -synonym: "debrisoquine sensitivity" EXACT [OMIM:608902, OMIM:genemap2] -synonym: "debrisoquine, poor metabolism of" RELATED [OMIM:608902] -synonym: "debrisoquine, ultrarapid metabolism of" RELATED [OMIM:608902] -synonym: "drug metabolism, poor, CYP2D6-related" EXACT [OMIM:608902] -synonym: "drug metabolism, ultrarapid, CYP2D6-related" RELATED [OMIM:608902] -synonym: "nortriptyline, poor metabolism of" RELATED [OMIM:608902] -synonym: "sparteine, poor metabolism of" RELATED [OMIM:608902] +synonym: "codeine sensitivity" EXACT [] +synonym: "codeine, ultrarapid metabolism of" RELATED [] +synonym: "debrisoquine sensitivity" EXACT [] +synonym: "debrisoquine, poor metabolism of" RELATED [] +synonym: "debrisoquine, ultrarapid metabolism of" RELATED [] +synonym: "drug metabolism, poor, CYP2D6-related" EXACT [] +synonym: "drug metabolism, ultrarapid, CYP2D6-related" RELATED [] +synonym: "nortriptyline, poor metabolism of" RELATED [] +synonym: "sparteine, poor metabolism of" RELATED [] xref: MESH:C563835 {source="MONDO:obsoleteEquivalent"} xref: OMIM:608902 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -275856,7 +275904,7 @@ name: attention deficit-hyperactivity disorder, susceptibility to, 1 subset: predisposition synonym: "ADHD1" EXACT ABBREVIATION [OMIM:608903] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 1" EXACT [OMIM:608903] -synonym: "attention deficit-hyperactivity disorder, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:608903] +synonym: "attention deficit-hyperactivity disorder, susceptibility to, type 1" EXACT [MONDORULE:1] xref: MEDGEN:323087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608903 {source="MONDO:equivalentTo"} xref: UMLS:C1837153 {source="MEDGEN:323087", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -275872,7 +275920,7 @@ name: attention deficit-hyperactivity disorder, susceptibility to, 2 subset: predisposition synonym: "ADHD2" EXACT ABBREVIATION [OMIM:608904] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 2" EXACT [OMIM:608904] -synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608904] +synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 2" EXACT [MONDORULE:1] xref: MEDGEN:323086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608904 {source="MONDO:equivalentTo"} xref: UMLS:C1837152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:323086"} @@ -275888,7 +275936,7 @@ name: attention deficit-hyperactivity disorder, susceptibility to, 3 subset: predisposition synonym: "ADHD3" EXACT ABBREVIATION [OMIM:608905] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 3" EXACT [OMIM:608905] -synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:608905] +synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 3" EXACT [MONDORULE:1] xref: MEDGEN:323085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608905 {source="MONDO:equivalentTo"} xref: UMLS:C1837151 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:323085"} @@ -275904,7 +275952,7 @@ name: attention deficit-hyperactivity disorder, susceptibility to, 4 subset: predisposition synonym: "ADHD4" EXACT ABBREVIATION [OMIM:608906] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 4" EXACT [OMIM:608906] -synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:608906] +synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 4" EXACT [MONDORULE:1] xref: MEDGEN:373267 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608906 {source="MONDO:equivalentTo"} xref: UMLS:C1837150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373267"} @@ -275917,10 +275965,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012153 name: Alzheimer disease 9 -synonym: "AD9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608907] -synonym: "Alzheimer disease 9" EXACT [MONDO:Lexical, OMIM:608907] -synonym: "Alzheimer disease 9, late-onset" RELATED [OMIM:608907] -synonym: "Alzheimer disease 9, susceptibility to" RELATED [OMIM:608907] +synonym: "AD9" EXACT ABBREVIATION [DOID:0111364, MONDO:Lexical, OMIM:608907] +synonym: "Alzheimer disease 9" EXACT [MONDO:Lexical] +synonym: "Alzheimer disease 9, late-onset" RELATED [] +synonym: "Alzheimer disease 9, susceptibility to" RELATED [] xref: DOID:0111364 {source="MONDO:equivalentTo"} xref: MEDGEN:924255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563834 {source="MONDO:equivalentTo"} @@ -275940,9 +275988,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "myopia (disease) caused by mutation in SCO2" EXACT [] synonym: "myopia 6" EXACT [MONDO:Lexical, OMIM:608908] -synonym: "myopia type 6" EXACT [MONDORULE:1, OMIM:608908] +synonym: "myopia type 6" EXACT [MONDORULE:1] synonym: "myopia, susceptibility to" RELATED [GARD:0009937] -synonym: "MYP6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608908] +synonym: "MYP6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SCO2 myopia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: GARD:9937 {source="MONDO:GARD"} xref: MEDGEN:324696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -275967,10 +276015,10 @@ subset: ordo_morphological_anomaly {source="Orphanet:137914"} subset: orphanet_rare {source="Orphanet:137914"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atresia of nares" EXACT [DOID:9574] -synonym: "choanal atresia, POSTERIOR" RELATED [MONDO:Lexical, OMIM:608911] +synonym: "atresia of nares" EXACT [DOID:9574, ICD10CM:Q30.0, icd11.foundation:2099486655] +synonym: "choanal atresia, POSTERIOR" RELATED [MONDO:Lexical] synonym: "imperforate nares" EXACT [DOID:9574] -synonym: "PCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608911] +synonym: "PCA" RELATED ABBREVIATION [MONDO:Lexical] synonym: "posterior choanal atresia" EXACT [DOID:9574] xref: DOID:9574 {source="MONDO:equivalentTo"} xref: GARD:16951 {source="MONDO:GARD"} @@ -276001,10 +276049,10 @@ subset: gard_rare {source="GARD:15445", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CMS1B" EXACT ABBREVIATION [DOID:0110662, MONDO:Lexical, OMIM:608930] -synonym: "congenital myasthenic syndrome 1B" RELATED [DOID:0110662] +synonym: "congenital myasthenic syndrome 1B" RELATED [] synonym: "congenital myasthenic syndrome 1B, fast-channel" EXACT [DOID:0110662] -synonym: "congenital myasthenic syndrome type 1B" EXACT [DOID:0110662, MONDORULE:4] -synonym: "myasthenic syndrome, congenital, 1B, FAST-channel" RELATED [OMIM:608930] +synonym: "congenital myasthenic syndrome type 1B" EXACT [MONDORULE:4] +synonym: "myasthenic syndrome, congenital, 1B, FAST-channel" RELATED [] synonym: "myasthenic syndrome, congenital, 1B, fast-channel" EXACT [MONDO:Lexical, OMIM:608930] xref: DOID:0110662 {source="MONDO:equivalentTo"} xref: GARD:15445 {source="MONDO:GARD"} @@ -276026,22 +276074,22 @@ def: "A congenital myasthenic syndrome characterized by autosomal recessive inhe subset: gard_rare {source="GARD:10108", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS Id" EXACT [DOID:0110679] -synonym: "Cms Id" RELATED [OMIM:608931] -synonym: "Cms Id, formerly" RELATED [OMIM:608931] +synonym: "CMS Id" EXACT ABBREVIATION [DOID:0110679] +synonym: "Cms Id" RELATED [] +synonym: "Cms Id, formerly" RELATED [] synonym: "CMS1D" EXACT ABBREVIATION [DOID:0110679] synonym: "CMS4C" EXACT ABBREVIATION [DOID:0110679, MONDO:Lexical, OMIM:608931] synonym: "congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency" EXACT [DOID:0110679] synonym: "congenital myasthenic syndrome associated with acetylcholine receptor deficiency" RELATED [GARD:0010108] -synonym: "congenital myasthenic syndrome type 4C" EXACT [DOID:0110679, MONDORULE:4] +synonym: "congenital myasthenic syndrome type 4C" EXACT [MONDORULE:4] synonym: "congenital myasthenic syndrome type Id" EXACT [DOID:0110679] synonym: "familial infantile myasthenia 1" EXACT [DOID:0110679] synonym: "FIM1" EXACT ABBREVIATION [DOID:0110679] -synonym: "myasthenia, familial infantile, 1" RELATED [OMIM:608931] -synonym: "myasthenia, familial infantile, 1, formerly" RELATED [OMIM:608931] -synonym: "myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:608931] +synonym: "myasthenia, familial infantile, 1" RELATED [] +synonym: "myasthenia, familial infantile, 1, formerly" RELATED [] +synonym: "myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical] synonym: "myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency" RELATED [GARD:0010108] -synonym: "myasthenic syndrome, congenital, type Id" RELATED [OMIM:608931] +synonym: "myasthenic syndrome, congenital, type Id" RELATED [] xref: DOID:0110679 {source="MONDO:equivalentTo"} xref: GARD:10108 {source="MONDO:GARD"} xref: MEDGEN:373251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -276077,7 +276125,7 @@ name: lung cancer susceptibility 1 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "LNCR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608935] -synonym: "lung cancer susceptibility" EXACT [OMIM:608935, OMIM:genemap2] +synonym: "lung cancer susceptibility" EXACT [] synonym: "lung cancer susceptibility 1" EXACT [MONDO:Lexical, OMIM:608935] xref: MEDGEN:373250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608935 {source="MONDO:equivalentTo"} @@ -276099,10 +276147,11 @@ subset: ordo_disorder {source="Orphanet:85167"} subset: orphanet_rare {source="Orphanet:85167"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SmD-CRD" EXACT [Orphanet:85167] -synonym: "SMDCRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608940] -synonym: "spondylometaphyseal dysplasia with cone-rod dystrophy" RELATED [MONDO:Lexical, OMIM:608940] -synonym: "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" EXACT CLINGEN_LABEL [] +synonym: "SMD-CRD" EXACT ABBREVIATION [DOID:0112300, Orphanet:85167] +synonym: "SmD-CRD" EXACT [] +synonym: "SMDCRD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spondylometaphyseal dysplasia with cone-rod dystrophy" RELATED [MONDO:Lexical] +synonym: "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" EXACT CLINGEN_LABEL [DOID:0112300, Orphanet:85167] xref: DOID:0112300 {source="MONDO:equivalentTo"} xref: GARD:10647 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:85167", source="Orphanet:85167/attributed", source="Orphanet:85167/ntbt"} @@ -276126,9 +276175,9 @@ subset: ordo_disorder {source="Orphanet:169085"} subset: orphanet_rare {source="Orphanet:169085"} subset: predisposition subset: rare -synonym: "CD8 deficiency, familial" RELATED [OMIM:608957] +synonym: "CD8 deficiency, familial" RELATED [] synonym: "familial CD8 deficiency" EXACT [Orphanet:169085] -synonym: "susceptibility to respiratory infections associated with CD8alpha chain mutation" EXACT CLINGEN_LABEL [] +synonym: "susceptibility to respiratory infections associated with CD8alpha chain mutation" EXACT CLINGEN_LABEL [Orphanet:169085] xref: ICD10CM:D84.8 {source="Orphanet:169085", source="Orphanet:169085/attributed", source="Orphanet:169085/ntbt"} xref: MEDGEN:323058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563824 {source="MONDO:equivalentTo"} @@ -276153,12 +276202,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "butterfly-shaped pigmentary maculary dystrophy 2" EXACT [DOID:0060864] synonym: "CTNNA1 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "macular dystrophy, butterfly-Shaped pigmentary, 2" RELATED [OMIM:608970] -synonym: "macular dystrophy, patterned, 2" RELATED [OMIM:608970] -synonym: "macular dystrophy, patterned, type 2" EXACT [MONDORULE:1, OMIM:608970] -synonym: "MDPT2" EXACT ABBREVIATION [DOID:0060864] +synonym: "macular dystrophy, butterfly-Shaped pigmentary, 2" RELATED [] +synonym: "macular dystrophy, patterned, 2" RELATED [] +synonym: "macular dystrophy, patterned, type 2" EXACT [MONDORULE:1] +synonym: "MDPT2" EXACT ABBREVIATION [DOID:0060864, OMIM:608970] synonym: "patterned macular dystrophy caused by mutation in CTNNA1" EXACT [MONDO:design_pattern] -synonym: "patterned macular dystrophy type 2" EXACT [DOID:0060864, MONDORULE:1] +synonym: "patterned macular dystrophy type 2" EXACT [MONDORULE:1] xref: DOID:0060864 {source="MONDO:equivalentTo"} xref: GARD:18238 {source="MONDO:GARD"} xref: MEDGEN:332348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -276179,13 +276228,13 @@ subset: gard_rare {source="GARD:18293", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" EXACT [DOID:0090014] +synonym: "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" EXACT [] synonym: "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" EXACT [DOID:0090014] synonym: "IMD104" EXACT ABBREVIATION [OMIM:608971] -synonym: "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:608971] -synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" EXACT CLINGEN_LABEL [OMIM:608971] -synonym: "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive" EXACT [OMIM:608971, OMIM:genemap2] -synonym: "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type" EXACT [OMIM:608971, OMIM:genemap2] +synonym: "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" RELATED [] +synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" EXACT CLINGEN_LABEL [DOID:0090014, OMIM:608971] +synonym: "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive" EXACT [] +synonym: "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type" EXACT [] xref: DOID:0090014 {source="MONDO:equivalentTo"} xref: GARD:18293 {source="MONDO:GARD"} xref: ICD10CM:D81.2 {source="DOID:0090014"} @@ -276215,7 +276264,7 @@ subset: orphanet_rare {source="Orphanet:3097"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype" RELATED [GARD:0003432] -synonym: "Meacham syndrome" EXACT [OMIM:608978] +synonym: "Meacham syndrome" EXACT [icd11.foundation:1307620543, OMIM:608978, Orphanet:3097] synonym: "Meacham Winn Culler syndrome" RELATED [GARD:0003432] synonym: "Meacham-Winn-Culler syndrome" EXACT [Orphanet:3097] synonym: "Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome" EXACT [Orphanet:3097] @@ -276245,9 +276294,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:217266"} subset: orphanet_rare {source="Orphanet:217266"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bifid NOSE with or without anorectal and renal anomalies" RELATED [MONDO:Lexical, OMIM:608980] -synonym: "bifid nose with or without anorectal and renal anomalies" EXACT [Orphanet:217266] -synonym: "BNAR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608980] +synonym: "bifid NOSE with or without anorectal and renal anomalies" RELATED [MONDO:Lexical] +synonym: "bifid nose with or without anorectal and renal anomalies" EXACT [OMIM:608980, Orphanet:217266] +synonym: "BNAR" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:10595 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:217266/attributed", source="Orphanet:217266/ntbt", source="Orphanet:217266"} xref: MEDGEN:413305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -276269,9 +276318,9 @@ def: "Any hereditary ataxia in which the cause of the disease is a mutation in t subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ADSA" EXACT ABBREVIATION [DOID:0111170] -synonym: "Adsa" RELATED [OMIM:608984] -synonym: "ataxia, sensory, 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608984] +synonym: "ADSA" EXACT ABBREVIATION [DOID:0111170, OMIM:608984] +synonym: "Adsa" RELATED [] +synonym: "ataxia, sensory, 1, autosomal dominant" RELATED [MONDO:Lexical] synonym: "hereditary ataxia caused by mutation in RNF170" EXACT [MONDO:design_pattern] synonym: "RNF170 hereditary ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SNAX1" EXACT ABBREVIATION [DOID:0111170, MONDO:Lexical, OMIM:608984] @@ -276308,7 +276357,7 @@ id: MONDO:0012168 name: dyslexia, susceptibility to, 8 subset: predisposition synonym: "dyslexia, susceptibility to, 8" EXACT [OMIM:608995] -synonym: "dyslexia, susceptibility to, 8, multifactorial" EXACT [OMIM:608995, OMIM:genemap2] +synonym: "dyslexia, susceptibility to, 8, multifactorial" EXACT [] synonym: "DYX8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:608995] xref: MEDGEN:332344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608995 {source="MONDO:equivalentTo"} @@ -276325,9 +276374,9 @@ name: premature ovarian failure 3 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Pof3" RELATED [MONDO:Lexical, OMIM:608996] +synonym: "Pof3" RELATED [MONDO:Lexical] synonym: "premature ovarian failure 3" EXACT [MONDO:Lexical, OMIM:608996] -synonym: "premature ovarian failure type 3" EXACT [MONDORULE:1, OMIM:608996] +synonym: "premature ovarian failure type 3" EXACT [MONDORULE:1] xref: DOID:0080860 {source="MONDO:equivalentTo"} xref: MEDGEN:373230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563816 {source="MONDO:equivalentTo"} @@ -276345,16 +276394,16 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22611", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 36" NARROW [DOID:0110494] -synonym: "autosomal recessive nonsyndromic deafness 36" NARROW [OMIM:609006] +synonym: "autosomal recessive deafness 36" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 36" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ESPN" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 36" NARROW [DOID:0110494, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 36" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 36" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal dominant, without vestibular involvement" NARROW [OMIM:609006] -synonym: "deafness, autosomal recessive 36" NARROW [OMIM:609006, OMIM:genemap2] -synonym: "deafness, autosomal recessive 36, with or without vestibular involvement" NARROW [MONDO:Lexical, OMIM:609006] +synonym: "deafness, autosomal dominant, without vestibular involvement" NARROW [] +synonym: "deafness, autosomal recessive 36" NARROW [] +synonym: "deafness, autosomal recessive 36, with or without vestibular involvement" NARROW [MONDO:Lexical] synonym: "deafness, neurosensory, without vestibular involvement, autosomal dominant" EXACT [] -synonym: "DFNB36" NARROW ABBREVIATION [DOID:0110494, MONDO:Lexical, OMIM:609006] +synonym: "DFNB36" NARROW ABBREVIATION [MONDO:Lexical] synonym: "ESPN autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110494 {source="MONDO:equivalentTo"} xref: GARD:22611 {source="MONDO:GARD"} @@ -276391,13 +276440,13 @@ subset: ordo_disorder {source="Orphanet:746"} subset: orphanet_rare {source="Orphanet:746"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mitochondrial trifunctional PROTEIN deficiency" RELATED [OMIM:609015] -synonym: "mitochondrial trifunctional protein deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609015] -synonym: "MTPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609015] -synonym: "TFP deficiency" EXACT [Orphanet:746] -synonym: "TFPD" EXACT ABBREVIATION [Orphanet:746] -synonym: "trifunctional Protein deficiency" RELATED [OMIM:609015] -synonym: "trifunctional Protein deficiency with myopathy and neuropathy" RELATED [OMIM:609015] +synonym: "mitochondrial trifunctional PROTEIN deficiency" RELATED [] +synonym: "mitochondrial trifunctional protein deficiency" EXACT CLINGEN_LABEL [DOID:0111277, icd11.foundation:1018083832, MONDO:Lexical, NCIT:C98991, OMIMPS:609015, Orphanet:746] +synonym: "MTPD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "TFP deficiency" EXACT [DOID:0111277, Orphanet:746] +synonym: "TFPD" EXACT ABBREVIATION [DOID:0111277, Orphanet:746] +synonym: "trifunctional Protein deficiency" RELATED [] +synonym: "trifunctional Protein deficiency with myopathy and neuropathy" RELATED [] xref: DOID:0111277 {source="MONDO:equivalentTo"} xref: GARD:3684 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:746/attributed", source="Orphanet:746/ntbt", source="Orphanet:746"} @@ -276432,13 +276481,13 @@ subset: orphanet_rare {source="Orphanet:5"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "3-hydroxyacyl-CoA dehydrogenase long chain deficiency" RELATED [GARD:0006867] -synonym: "fatty liver, acute, of pregnancy" EXACT [OMIM:609016, OMIM:genemap2] -synonym: "HELLP syndrome, maternal, of pregnancy" EXACT [OMIM:609016, OMIM:genemap2] -synonym: "LCHAD deficiency" EXACT [OMIM:609016, Orphanet:5] +synonym: "fatty liver, acute, of pregnancy" EXACT [] +synonym: "HELLP syndrome, maternal, of pregnancy" EXACT [] +synonym: "LCHAD deficiency" EXACT [NCIT:C129929, OMIM:609016, Orphanet:5] synonym: "LCHADD" EXACT ABBREVIATION [Orphanet:5] -synonym: "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [] +synonym: "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [icd11.foundation:760613381, Orphanet:5] synonym: "long-chain 3-hydroxy acyl CoA dehydrogenase deficiency" RELATED [GARD:0006867] -synonym: "long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [OMIM:609016] +synonym: "long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [] synonym: "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" EXACT [Orphanet:5] synonym: "long-chain 3-OH acyl-CoA dehydrogenase deficiency" RELATED [GARD:0006867] synonym: "trifunctional protein deficiency type 1" RELATED [GARD:0006867] @@ -276476,10 +276525,10 @@ name: cataract 28 def: "A cataract that has material basis in variation in the region 6p12-q12." [DOID:0110244, PMID:15452352] synonym: "age-related cortical cataract 1" EXACT [DOID:0110244] synonym: "ARCC1" EXACT ABBREVIATION [DOID:0110244] -synonym: "cataract 28" EXACT [MONDO:Lexical, OMIM:609026] -synonym: "cataract 28, age-related cortical, susceptibility to" EXACT [OMIM:609026, OMIM:genemap2] -synonym: "cataract type 28" EXACT [DOID:0110244, MONDORULE:2] -synonym: "cataract, age-related cortical, 1" RELATED [OMIM:609026] +synonym: "cataract 28" EXACT [DOID:0110244, MONDO:Lexical, OMIM:609026] +synonym: "cataract 28, age-related cortical, susceptibility to" EXACT [] +synonym: "cataract type 28" EXACT [MONDORULE:2] +synonym: "cataract, age-related cortical, 1" RELATED [] synonym: "CTRCT28" EXACT ABBREVIATION [DOID:0110244, MONDO:Lexical, OMIM:609026] xref: DOID:0110244 {source="MONDO:equivalentTo"} xref: MEDGEN:373214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -276501,11 +276550,11 @@ subset: orphanet_rare {source="Orphanet:96170"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Der(22)t(11;22) syndrome" EXACT [Orphanet:96170] -synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:609029, OMIM:genemap2] -synonym: "Emanuel syndrome" EXACT [OMIM:609029] +synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [] +synonym: "Emanuel syndrome" EXACT [OMIM:609029, Orphanet:96170] synonym: "supernumerary der(22) syndrome" EXACT [Orphanet:96170] synonym: "supernumerary der(22),t(11;22) syndrome" RELATED [GARD:0009835] -synonym: "supernumerary Der(22)T(11" RELATED [OMIM:609029] +synonym: "supernumerary Der(22)T(11" RELATED [] xref: GARD:9835 {source="MONDO:GARD"} xref: ICD10CM:Q92.6 {source="Orphanet:96170", source="Orphanet:96170/attributed", source="Orphanet:96170/ntbt"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -276530,12 +276579,12 @@ subset: ordo_disorder {source="Orphanet:88628"} subset: orphanet_rare {source="Orphanet:88628"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ataxia, posterior column, with retinitis pigmentosa" EXACT [OMIM:609033, OMIM:genemap2] +synonym: "ataxia, posterior column, with retinitis pigmentosa" EXACT [] synonym: "autosomal recessive posterior column ataxia and retinitis pigmentosa" EXACT [Orphanet:88628] -synonym: "AXPC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609033] -synonym: "PCARP" EXACT ABBREVIATION [Orphanet:88628] -synonym: "Pcarp" RELATED [OMIM:609033] -synonym: "POSTERIOR column ataxia with retinitis pigmentosa" RELATED [MONDO:Lexical, OMIM:609033] +synonym: "AXPC1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PCARP" EXACT ABBREVIATION [OMIM:609033, Orphanet:88628] +synonym: "Pcarp" RELATED [] +synonym: "POSTERIOR column ataxia with retinitis pigmentosa" RELATED [MONDO:Lexical] xref: GARD:9898 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:88628", source="Orphanet:88628/attributed", source="Orphanet:88628/ntbt"} xref: MEDGEN:324636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -276553,8 +276602,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012178 name: intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature -synonym: "intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature" EXACT [OMIM:609037] -synonym: "mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature" RELATED DEPRECATED [OMIM:609037] +synonym: "intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature" EXACT [] +synonym: "mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature" RELATED DEPRECATED [] xref: MEDGEN:324635 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563810 {source="MONDO:equivalentTo"} xref: OMIM:609037 {source="MONDO:equivalentTo"} @@ -276585,10 +276634,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arrhythmogenic right ventricular cardiomyopathy 9" EXACT [DOID:0110077, OMIM:609040] -synonym: "arrhythmogenic right ventricular dysplasia 9" EXACT CLINGEN_LABEL [] -synonym: "arrhythmogenic right ventricular dysplasia type 9" EXACT [DOID:0110077, MONDORULE:1] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 9" RELATED [MONDO:Lexical, OMIM:609040] -synonym: "arrhythmogenic right ventricular dysplasia, familial, type 9" EXACT [MONDORULE:1, OMIM:609040] +synonym: "arrhythmogenic right ventricular dysplasia 9" EXACT CLINGEN_LABEL [DOID:0110077] +synonym: "arrhythmogenic right ventricular dysplasia type 9" EXACT [MONDORULE:1] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 9" RELATED [MONDO:Lexical] +synonym: "arrhythmogenic right ventricular dysplasia, familial, type 9" EXACT [MONDORULE:1] synonym: "ARVC9" EXACT ABBREVIATION [DOID:0110077] synonym: "ARVD9" EXACT ABBREVIATION [DOID:0110077, MONDO:Lexical, OMIM:609040] synonym: "familial arrhythmogenic right ventricular dysplasia 9" EXACT [DOID:0110077] @@ -276617,9 +276666,9 @@ subset: orphanet_rare {source="Orphanet:101007"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 27" EXACT [DOID:0110778] -synonym: "autosomal recessive spastic paraplegia type 27" EXACT [DOID:0110778] -synonym: "hereditary spastic paraplegia type 27" EXACT [DOID:0110778, MONDORULE:2] -synonym: "spastic paraplegia 27, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609041] +synonym: "autosomal recessive spastic paraplegia type 27" EXACT [DOID:0110778, Orphanet:101007] +synonym: "hereditary spastic paraplegia type 27" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 27, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG27" EXACT ABBREVIATION [DOID:0110778, MONDO:Lexical, OMIM:609041, Orphanet:101007] xref: DOID:0110778 {source="MONDO:equivalentTo"} xref: GARD:16940 {source="MONDO:GARD"} @@ -276650,11 +276699,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: inferred_rare subset: predisposition subset: rare -synonym: "CMM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609048] -synonym: "melanoma, cutaneous malignant, 3" EXACT [OMIM:609048, OMIM:genemap2] +synonym: "CMM3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "melanoma, cutaneous malignant, 3" EXACT [] synonym: "melanoma, cutaneous malignant, susceptibility to, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609048] -synonym: "melanoma, cutaneous malignant, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609048] -synonym: "susceptibility to cutaneous malignant melanoma 3" RELATED [OMIM:609048] +synonym: "melanoma, cutaneous malignant, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "susceptibility to cutaneous malignant melanoma 3" RELATED [] xref: MEDGEN:373202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609048 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:609048"} @@ -276685,8 +276734,8 @@ subset: rare synonym: "microcoria - congenital nephrosis" RELATED [GARD:0009420] synonym: "microcoria - congenital nephrotic syndrome" RELATED [GARD:0009420] synonym: "microcoria-congenital nephrosis syndrome" EXACT [DOID:0060852, Orphanet:2670] -synonym: "microcoria-congenital nephrotic syndrome" RELATED [OMIM:609049] -synonym: "Pierson syndrome" EXACT [OMIM:609049] +synonym: "microcoria-congenital nephrotic syndrome" RELATED [] +synonym: "Pierson syndrome" EXACT [DOID:0060852, icd11.foundation:555082533, NCIT:C128145, OMIM:609049, Orphanet:2670] xref: DOID:0060852 {source="MONDO:equivalentTo"} xref: GARD:9420 {source="MONDO:GARD"} xref: ICD10CM:N04.8 {source="DOID:0060852", source="Orphanet:2670/attributed", source="Orphanet:2670/ntbt", source="Orphanet:2670"} @@ -276716,7 +276765,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "spondylometaphyseal dysplasia A4 type" RELATED [GARD:0000458] synonym: "spondylometaphyseal dysplasia type A4" RELATED [GARD:0000458] -synonym: "spondylometaphyseal dysplasia, type A4" RELATED [OMIM:609052] +synonym: "spondylometaphyseal dysplasia, type A4" RELATED [] xref: DOID:0112301 {source="MONDO:equivalentTo"} xref: GARD:458 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:168555/attributed", source="Orphanet:168555/ntbt", source="Orphanet:168555"} @@ -276740,11 +276789,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FANCI" EXACT ABBREVIATION [DOID:0111091, MONDO:Lexical, OMIM:609053] synonym: "Fanconi anaemia complementation group type I" EXACT OMO:0003005 [] -synonym: "Fanconi anemia complementation group I" EXACT CLINGEN_LABEL [] -synonym: "Fanconi anemia complementation group type I" EXACT [DOID:0111091, MONDORULE:1] -synonym: "Fanconi Anemia, complementation Group 1" RELATED [OMIM:609053] -synonym: "Fanconi anemia, complementation group I" RELATED [MONDO:Lexical, OMIM:609053] -synonym: "Fanconi Anemia, complementation group type 1" EXACT [MONDORULE:1, OMIM:609053] +synonym: "Fanconi anemia complementation group I" EXACT CLINGEN_LABEL [DOID:0111091] +synonym: "Fanconi anemia complementation group type I" EXACT [MONDORULE:1] +synonym: "Fanconi Anemia, complementation Group 1" RELATED [] +synonym: "Fanconi anemia, complementation group I" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type 1" EXACT [MONDORULE:1] xref: DOID:0111091 {source="MONDO:equivalentTo"} xref: GARD:15448 {source="MONDO:GARD"} xref: MEDGEN:323016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -276767,10 +276816,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FANCJ" EXACT ABBREVIATION [DOID:0111097, MONDO:Lexical, OMIM:609054] synonym: "Fanconi anaemia complementation group type J" EXACT OMO:0003005 [] -synonym: "Fanconi anemia complementation group J" EXACT CLINGEN_LABEL [] -synonym: "Fanconi anemia complementation group type J" EXACT [DOID:0111097, MONDORULE:1] -synonym: "Fanconi anemia, complementation group J" RELATED [MONDO:Lexical, OMIM:609054] -synonym: "Fanconi Anemia, complementation group type J" EXACT [MONDORULE:1, OMIM:609054] +synonym: "Fanconi anemia complementation group J" EXACT CLINGEN_LABEL [DOID:0111097] +synonym: "Fanconi anemia complementation group type J" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group J" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type J" EXACT [MONDORULE:1] xref: DOID:0111097 {source="MONDO:equivalentTo"} xref: GARD:15449 {source="MONDO:GARD"} xref: MEDGEN:323015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -276791,11 +276840,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype {source="Orphanet:228357"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ceroid lipofuscinosis, neuronal, 9" RELATED [MONDO:Lexical, OMIM:609055] +synonym: "ceroid lipofuscinosis, neuronal, 9" RELATED [MONDO:Lexical] synonym: "CLN 9" RELATED [GARD:0006618] synonym: "CLN9" EXACT ABBREVIATION [DOID:0110733, MONDO:Lexical, OMIM:609055] -synonym: "CLN9 disease" RELATED [Orphanet:228357] -synonym: "neuronal ceroid lipofuscinosis type 9" EXACT [DOID:0110733, MONDORULE:1] +synonym: "CLN9 disease" RELATED [] +synonym: "neuronal ceroid lipofuscinosis type 9" EXACT [MONDORULE:1] xref: DOID:0110733 {source="MONDO:equivalentTo"} xref: GARD:6618 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="DOID:0110733", source="Orphanet:228357/attributed", source="Orphanet:228357/ntbt", source="Orphanet:228357"} @@ -276826,10 +276875,10 @@ subset: ordo_disorder {source="Orphanet:300333"} subset: orphanet_rare {source="Orphanet:300333"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epidermolysis bullosa simplex 7, with nephropathy and deafness" EXACT [OMIM:609057, OMIM:genemap2] -synonym: "nephropathy with pretibial epidermolysis bullosa and deafness" RELATED [OMIM:609057] -synonym: "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome" EXACT [Orphanet:300333] -synonym: "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome" EXACT [Orphanet:300333] +synonym: "epidermolysis bullosa simplex 7, with nephropathy and deafness" EXACT [OMIM:609057] +synonym: "nephropathy with pretibial epidermolysis bullosa and deafness" RELATED [] +synonym: "nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome" EXACT [] +synonym: "nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome" EXACT [] xref: GARD:17367 {source="MONDO:GARD"} xref: MEDGEN:323004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563798 {source="MONDO:equivalentTo"} @@ -276850,14 +276899,14 @@ subset: ordo_disorder {source="Orphanet:137681"} subset: orphanet_rare {source="Orphanet:137681"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 1" RELATED [MONDO:Lexical, OMIM:609060] +synonym: "combined oxidative phosphorylation deficiency 1" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in GFM1" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 1" EXACT [MONDORULE:1, OMIM:609060] -synonym: "COXPD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609060] +synonym: "combined oxidative phosphorylation deficiency type 1" EXACT [MONDORULE:1] +synonym: "COXPD1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "GFM1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" EXACT CLINGEN_LABEL [] -synonym: "Hepatoencephalopathy due to COXPD1" EXACT [Orphanet:137681] -synonym: "Hepatoencephalopathy, early fatal progressive" RELATED [OMIM:609060] +synonym: "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" EXACT CLINGEN_LABEL [DOID:0111474, Orphanet:137681] +synonym: "Hepatoencephalopathy due to COXPD1" EXACT [DOID:0111474, Orphanet:137681] +synonym: "Hepatoencephalopathy, early fatal progressive" RELATED [] xref: DOID:0111474 {source="MONDO:equivalentTo"} xref: GARD:16949 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:137681/attributed", source="Orphanet:137681/ntbt", source="Orphanet:137681"} @@ -276886,8 +276935,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:65288"} subset: orphanet_rare {source="Orphanet:65288"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diabetes mellitus, permanent neonatal, with cerebellar agenesis" RELATED [OMIM:609069] -synonym: "paca" RELATED [MONDO:Lexical, OMIM:609069] +synonym: "diabetes mellitus, permanent neonatal, with cerebellar agenesis" RELATED [] +synonym: "paca" RELATED [MONDO:Lexical] synonym: "pancreatic and cerebellar agenesis" EXACT [MONDO:Lexical, OMIM:609069, Orphanet:65288] xref: GARD:16670 {source="MONDO:GARD"} xref: MEDGEN:332288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -276913,11 +276962,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL" EXACT [MONDO:design_pattern] synonym: "HNRNPDL autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LGMD1G" EXACT ABBREVIATION [DOID:0110306, MONDO:Lexical, OMIM:609115, Orphanet:55596] +synonym: "LGMD1G" EXACT ABBREVIATION [DOID:0110306, MONDO:Lexical, Orphanet:55596] synonym: "limb-girdle muscular dystrophy type 1G" RELATED [GARD:0012531] -synonym: "limb-girdle muscular dystrophy, type 1G" RELATED [MONDO:Lexical, OMIM:609115] +synonym: "limb-girdle muscular dystrophy, type 1G" RELATED [MONDO:Lexical] synonym: "muscular dystrophy limb-girdle type 1G" EXACT [DOID:0110306] -synonym: "muscular dystrophy, limb-girdle, autosomal dominant 3" EXACT [OMIM:609115, OMIM:genemap2] +synonym: "muscular dystrophy, limb-girdle, autosomal dominant 3" EXACT [OMIM:609115] xref: DOID:0110306 {source="MONDO:equivalentTo"} xref: GARD:12531 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="DOID:0110306", source="Orphanet:55596/attributed", source="Orphanet:55596/ntbt", source="Orphanet:55596"} @@ -276939,7 +276988,7 @@ name: aneurysm, intracranial berry, 3 subset: gard_rare {source="GARD:18322", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, intracranial BERRY, 3" RELATED [MONDO:Lexical, OMIM:609122] +synonym: "aneurysm, intracranial BERRY, 3" RELATED [MONDO:Lexical] synonym: "ANIB3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609122] xref: DOID:0080966 {source="MONDO:equivalentTo"} xref: GARD:18322 {source="MONDO:GARD"} @@ -276961,12 +277010,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:65720"} subset: orphanet_rare {source="Orphanet:65720"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis with Severe scoliosis" RELATED [OMIM:609128] -synonym: "arthrogryposis, distal, type 2D" RELATED [OMIM:609128] -synonym: "arthrogryposis, distal, type 4" RELATED [MONDO:Lexical, OMIM:609128] -synonym: "DA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609128] -synonym: "distal arthrogryposis type 4" EXACT [Orphanet:65720] -synonym: "distal arthrogryposis type IID" EXACT [Orphanet:65720] +synonym: "arthrogryposis with Severe scoliosis" RELATED [] +synonym: "arthrogryposis, distal, type 2D" RELATED [] +synonym: "arthrogryposis, distal, type 4" RELATED [MONDO:Lexical] +synonym: "DA4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "distal arthrogryposis type 4" EXACT [DOID:0111610, Orphanet:65720] +synonym: "distal arthrogryposis type IID" EXACT [DOID:0111610, Orphanet:65720] xref: DOID:0111610 {source="MONDO:equivalentTo"} xref: GARD:16672 {source="MONDO:GARD"} xref: ICD10CM:Q68.8 {source="Orphanet:65720/attributed", source="Orphanet:65720/ntbt", source="Orphanet:65720"} @@ -276986,11 +277035,11 @@ subset: gard_rare {source="GARD:18127", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "auditory neuropathy caused by mutation in DIAPH3" EXACT [MONDO:design_pattern] -synonym: "auditory neuropathy, autosomal dominant, 1" RELATED [MONDO:Lexical, OMIM:609129] -synonym: "auditory neuropathy, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:609129] -synonym: "auditory neuropathy, nonsyndromic dominant" RELATED [OMIM:609129] +synonym: "auditory neuropathy, autosomal dominant, 1" RELATED [MONDO:Lexical] +synonym: "auditory neuropathy, autosomal dominant, type 1" EXACT [MONDORULE:1] +synonym: "auditory neuropathy, nonsyndromic dominant" RELATED [] synonym: "AUNA1" EXACT ABBREVIATION [DOID:0060690, MONDO:Lexical, OMIM:609129] -synonym: "autosomal dominant auditory neuropathy type 1" EXACT [DOID:0060690, MONDORULE:1] +synonym: "autosomal dominant auditory neuropathy type 1" EXACT [MONDORULE:1] synonym: "DIAPH3 auditory neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nonsyndromic dominant auditory neuropathy" EXACT [DOID:0060690] synonym: "NSDAN" EXACT ABBREVIATION [DOID:0060690] @@ -277021,11 +277070,11 @@ synonym: "anaemia aplastic" RELATED OMO:0003005 [] synonym: "anemia aplastic" RELATED [GARD:0005836] synonym: "aplastic anaemia" RELATED OMO:0003005 [] synonym: "aplastic anaemia idiopathic" RELATED OMO:0003005 [] -synonym: "aplastic anemia" RELATED [OMIM:609135] +synonym: "aplastic anemia" RELATED [] synonym: "aplastic anemia idiopathic" RELATED [GARD:0005836] -synonym: "aplastic Anemia, susceptibility to" RELATED [OMIM:609135] +synonym: "aplastic Anemia, susceptibility to" RELATED [] synonym: "idiopathic aplastic aplasia" EXACT [NCIT:C61230] -synonym: "idiopathic bone marrow failure" EXACT [Orphanet:88] +synonym: "idiopathic bone marrow failure" EXACT [icd11.foundation:1615519452, Orphanet:88] synonym: "secondary aplastic anaemia" RELATED OMO:0003005 [] synonym: "secondary aplastic anemia" RELATED [GARD:0005836] xref: GARD:5836 {source="MONDO:GARD"} @@ -277054,12 +277103,12 @@ subset: ordo_disorder {source="Orphanet:163746"} subset: orphanet_rare {source="Orphanet:163746"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neurologic Waardenburg-Shah syndrome" EXACT [DOID:0090111] +synonym: "neurologic Waardenburg-Shah syndrome" EXACT [DOID:0090111, Orphanet:163746] synonym: "PCWH" EXACT ABBREVIATION [DOID:0090111, MONDO:Lexical, OMIM:609136, Orphanet:163746] synonym: "peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease" EXACT [DOID:0090111, MONDO:Lexical, OMIM:609136] -synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome" EXACT [DOID:0090111, Orphanet:163746] -synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease" RELATED [Orphanet:163746] -synonym: "Waardenburg-Shah syndrome, neurologic variant" RELATED [OMIM:609136] +synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome" EXACT [DOID:0090111] +synonym: "peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease" RELATED [] +synonym: "Waardenburg-Shah syndrome, neurologic variant" RELATED [] synonym: "WS4 plus" EXACT [Orphanet:163746] xref: DOID:0090111 {source="MONDO:equivalentTo"} xref: GARD:17004 {source="MONDO:GARD"} @@ -277090,13 +277139,13 @@ subset: gard_rare {source="GARD:18213", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "COL8A2 posterior polymorphous corneal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "corneal dystrophy, posterior polymorphous 2" EXACT [OMIM:609140, OMIM:genemap2] -synonym: "corneal dystrophy, POSTERIOR polymorphous, 2" RELATED [MONDO:Lexical, OMIM:609140] -synonym: "corneal dystrophy, posterior polymorphous, type 2" EXACT [MONDORULE:1, OMIM:609140] +synonym: "corneal dystrophy, posterior polymorphous 2" EXACT [] +synonym: "corneal dystrophy, POSTERIOR polymorphous, 2" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy, posterior polymorphous, type 2" EXACT [MONDORULE:1] synonym: "posterior polymorphous corneal dystrophy caused by mutation in COL8A2" EXACT [MONDO:design_pattern] -synonym: "posterior polymorphous corneal dystrophy type 2" EXACT [DOID:0110856, MONDORULE:1] -synonym: "PPCD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609140] -synonym: "Ppcd2" EXACT [DOID:0110856] +synonym: "posterior polymorphous corneal dystrophy type 2" EXACT [MONDORULE:1] +synonym: "PPCD2" EXACT ABBREVIATION [DOID:0110856, OMIM:609140] +synonym: "Ppcd2" EXACT [] xref: DOID:0110856 {source="MONDO:equivalentTo"} xref: GARD:18213 {source="MONDO:GARD"} xref: ICD10CM:H18.50 {source="DOID:0110856"} @@ -277118,12 +277167,12 @@ def: "Any posterior polymorphous corneal dystrophy in which the cause of the dis subset: gard_rare {source="GARD:18214", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "corneal dystrophy, POSTERIOR polymorphous, 3" RELATED [MONDO:Lexical, OMIM:609141] -synonym: "corneal dystrophy, posterior polymorphous, type 3" EXACT [MONDORULE:1, OMIM:609141] +synonym: "corneal dystrophy, POSTERIOR polymorphous, 3" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy, posterior polymorphous, type 3" EXACT [MONDORULE:1] synonym: "posterior polymorphous corneal dystrophy caused by mutation in ZEB1" EXACT [MONDO:design_pattern] -synonym: "posterior polymorphous corneal dystrophy type 3" EXACT [DOID:0110857, MONDORULE:1] -synonym: "PPCD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609141] -synonym: "Ppcd3" EXACT [DOID:0110857] +synonym: "posterior polymorphous corneal dystrophy type 3" EXACT [MONDORULE:1] +synonym: "PPCD3" EXACT ABBREVIATION [DOID:0110857, OMIM:609141] +synonym: "Ppcd3" EXACT [] synonym: "ZEB1 posterior polymorphous corneal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110857 {source="MONDO:equivalentTo"} xref: GARD:18214 {source="MONDO:GARD"} @@ -277151,8 +277200,8 @@ id: MONDO:0012202 name: malaria, mild, susceptibility to subset: predisposition synonym: "malaria, mild, susceptibility to" EXACT [OMIM:609148] -synonym: "Mals" RELATED [OMIM:609148] -synonym: "susceptibility to mild malaria" RELATED [OMIM:609148] +synonym: "Mals" RELATED [] +synonym: "susceptibility to mild malaria" RELATED [] xref: MEDGEN:332274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609148 {source="MONDO:equivalentTo"} xref: UMLS:C1836721 {source="MEDGEN:332274", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -277171,12 +277220,12 @@ subset: orphanet_rare {source="Orphanet:424"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial non-immune hyperthyroidism" EXACT [Orphanet:424] -synonym: "hyperthyroidism, congenital Nonautoimmune" RELATED [OMIM:609152] -synonym: "hyperthyroidism, NONAUTOIMMUNE" RELATED [OMIM:609152] -synonym: "hyperthyroidism, Nonautoimmune, autosomal dominant" RELATED [OMIM:609152] +synonym: "hyperthyroidism, congenital Nonautoimmune" RELATED [] +synonym: "hyperthyroidism, NONAUTOIMMUNE" RELATED [] +synonym: "hyperthyroidism, Nonautoimmune, autosomal dominant" RELATED [] synonym: "Nonautoimmune hyperthyroidism" RELATED [GARD:0002858] synonym: "resistance to thyroid stimulating hormone" EXACT [Orphanet:424] -synonym: "toxic thyroid hyperplasia, autosomal dominant" RELATED [OMIM:609152] +synonym: "toxic thyroid hyperplasia, autosomal dominant" RELATED [] xref: DOID:0081101 {source="MONDO:equivalentTo"} xref: GARD:2858 {source="MONDO:GARD"} xref: ICD10CM:E05.8 {source="Orphanet:424/attributed", source="Orphanet:424/ntbt", source="Orphanet:424"} @@ -277198,11 +277247,11 @@ subset: ordo_disorder {source="Orphanet:90044"} subset: orphanet_rare {source="Orphanet:90044"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cryohydrocytosis, mild" RELATED [OMIM:609153] -synonym: "pseudohyperkalemia Chiswick" RELATED [OMIM:609153] -synonym: "pseudohyperkalemia East London" RELATED [OMIM:609153] -synonym: "pseudohyperkalemia Falkirk" RELATED [OMIM:609153] -synonym: "pseudohyperkalemia Lille" RELATED [OMIM:609153] +synonym: "cryohydrocytosis, mild" RELATED [] +synonym: "pseudohyperkalemia Chiswick" RELATED [] +synonym: "pseudohyperkalemia East London" RELATED [] +synonym: "pseudohyperkalemia Falkirk" RELATED [] +synonym: "pseudohyperkalemia Lille" RELATED [] synonym: "pseudohyperkalemia, familial, 2, due to red cell leak" EXACT [OMIM:609153] synonym: "PSHK2" EXACT ABBREVIATION [OMIM:609153] xref: GARD:16785 {source="MONDO:GARD"} @@ -277225,11 +277274,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609161, Orphanet:228169] +synonym: "ADSD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ADSD1" EXACT ABBREVIATION [OMIM:609161] -synonym: "autosomal dominant striatal neurodegeneration" RELATED [Orphanet:228169] +synonym: "autosomal dominant striatal neurodegeneration" RELATED [] synonym: "PDE8B striatal degeneration, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "striatal degeneration, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609161] +synonym: "striatal degeneration, autosomal dominant" RELATED [MONDO:Lexical] synonym: "striatal Degeneration, autosomal dominant 1" EXACT [OMIM:609161] synonym: "striatal degeneration, autosomal dominant 1" EXACT [OMIM:609161] synonym: "striatal degeneration, autosomal dominant caused by mutation in PDE8B" EXACT [MONDO:design_pattern] @@ -277284,7 +277333,7 @@ id: MONDO:0012207 name: umbilicus, familial flat synonym: "flat umbilicus autosomal dominant" RELATED [GARD:0009490] synonym: "flat umbilicus familial" RELATED [GARD:0009490] -synonym: "flat umbilicus, autosomal dominant" RELATED [OMIM:609164] +synonym: "flat umbilicus, autosomal dominant" RELATED [] synonym: "umbilicus, familial flat" EXACT [OMIM:609164] xref: MEDGEN:332265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537059 {source="MONDO:equivalentTo"} @@ -277302,13 +277351,13 @@ subset: ordo_disorder {source="Orphanet:281190"} subset: orphanet_rare {source="Orphanet:281190"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Aarau disease" RELATED [OMIM:609165] -synonym: "CRIE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609165, Orphanet:281190] -synonym: "erythroderma, ichthyosiform, congenital reticular" RELATED [MONDO:Lexical, OMIM:609165] -synonym: "erythrokeratoderma, reticular" RELATED [OMIM:609165] -synonym: "ichthyosis variegata" EXACT [OMIM:609165, Orphanet:281190] +synonym: "Aarau disease" RELATED [] +synonym: "CRIE" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:281190] +synonym: "erythroderma, ichthyosiform, congenital reticular" RELATED [MONDO:Lexical] +synonym: "erythrokeratoderma, reticular" RELATED [] +synonym: "ichthyosis variegata" EXACT [Orphanet:281190] synonym: "ichthyosis with confetti" EXACT [OMIM:609165, Orphanet:281190] -synonym: "IWC" EXACT ABBREVIATION [Orphanet:281190] +synonym: "IWC" EXACT ABBREVIATION [OMIM:609165, Orphanet:281190] xref: GARD:17305 {source="MONDO:GARD"} xref: icd11.foundation:565254051 {source="MONDO:equivalentTo"} xref: MEDGEN:777141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -277338,8 +277387,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:50815"} subset: orphanet_rare {source="Orphanet:50815"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BRANCHIOGENIC-deafness syndrome" RELATED [OMIM:609166] -synonym: "MC)garbanC)-Loiselet syndrome" EXACT [Orphanet:50815] +synonym: "BRANCHIOGENIC-deafness syndrome" RELATED [] +synonym: "MC)garbanC)-Loiselet syndrome" EXACT [] synonym: "Mégarbané-Loiselet syndrome" EXACT [Orphanet:50815] xref: GARD:16648 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:50815/attributed", source="Orphanet:50815/ntbt", source="Orphanet:50815"} @@ -277356,9 +277405,9 @@ is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:50815", source=" id: MONDO:0012210 name: migraine with aura, susceptibility to, 7 subset: predisposition -synonym: "Mgr7" RELATED [OMIM:609179] +synonym: "Mgr7" RELATED [] synonym: "migraine with aura, susceptibility to, 7" EXACT [OMIM:609179] -synonym: "migraine with aura, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:609179] +synonym: "migraine with aura, susceptibility to, type 7" EXACT [MONDORULE:1] xref: MEDGEN:373145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609179 {source="MONDO:equivalentTo"} xref: UMLS:C1836670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:373145"} @@ -277377,14 +277426,14 @@ subset: rare synonym: "carbohydrate deficient glycoprotein syndrome type If" EXACT [Orphanet:79323] synonym: "carbohydrate-deficient glycoprotein syndrome type 1F" RELATED [GARD:0009832] synonym: "CDG 1F" RELATED [GARD:0009832] -synonym: "CDG If" RELATED [OMIM:609180] +synonym: "CDG If" RELATED [] synonym: "CDG syndrome type If" EXACT [Orphanet:79323] synonym: "CDG-If" EXACT [Orphanet:79323] synonym: "CDG1F" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609180, Orphanet:79323] synonym: "CDGIf" EXACT [NCIT:C126872] synonym: "congenital disorder of glycosylation type 1f" EXACT [Orphanet:79323] -synonym: "congenital disorder of glycosylation type If" EXACT [Orphanet:79323] -synonym: "congenital disorder of glycosylation, type If" RELATED [MONDO:Lexical, OMIM:609180] +synonym: "congenital disorder of glycosylation type If" EXACT [NCIT:C126872, Orphanet:79323] +synonym: "congenital disorder of glycosylation, type If" RELATED [MONDO:Lexical] synonym: "MPDU1-CDG" EXACT ABBREVIATION [Orphanet:79323] synonym: "MPDU1-CDG (CDG-If)" RELATED [GARD:0009832] xref: DOID:0080558 {source="MONDO:equivalentTo"} @@ -277413,13 +277462,13 @@ def: "A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. subset: gard_rare {source="GARD:9458", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aortic aneurysm, familial thoracic 5" RELATED [OMIM:609192] -synonym: "Furlong syndrome" EXACT [OMIM:609192] -synonym: "LDS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609192] -synonym: "Loeys-Dietz aortic aneurysm syndrome" RELATED [OMIM:609192] -synonym: "Loeys-Dietz syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609192] +synonym: "aortic aneurysm, familial thoracic 5" RELATED [] +synonym: "Furlong syndrome" EXACT [DOID:0070235, OMIM:609192] +synonym: "LDS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Loeys-Dietz aortic aneurysm syndrome" RELATED [] +synonym: "Loeys-Dietz syndrome 1" EXACT CLINGEN_LABEL [DOID:0070235, MONDO:Lexical, OMIM:609192] synonym: "Loeys-Dietz syndrome caused by mutation in TGFBR1" EXACT [MONDO:design_pattern] -synonym: "Loeys-Dietz syndrome type 1" EXACT [MONDORULE:1, OMIM:609192] +synonym: "Loeys-Dietz syndrome type 1" EXACT [MONDORULE:1, NCIT:C75119] synonym: "TGFBR1 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070235 {source="MONDO:equivalentTo"} xref: GARD:9458 {source="MONDO:GARD"} @@ -277448,11 +277497,11 @@ subset: orphanet_rare {source="Orphanet:101006"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 26" EXACT [DOID:0110777] -synonym: "autosomal recessive spastic paraplegia type 26" EXACT [DOID:0110777] +synonym: "autosomal recessive spastic paraplegia type 26" EXACT [DOID:0110777, Orphanet:101006] synonym: "GM2 synthase deficiency" EXACT [DOID:0110777, Orphanet:101006] -synonym: "hereditary spastic paraplegia type 26" EXACT [DOID:0110777, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 26" EXACT [MONDORULE:2] synonym: "spastic paraplegia 26" RELATED [GARD:0009587] -synonym: "spastic paraplegia 26, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609195] +synonym: "spastic paraplegia 26, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG26" EXACT ABBREVIATION [DOID:0110777, MONDO:Lexical, OMIM:609195, Orphanet:101006] xref: DOID:0110777 {source="MONDO:equivalentTo"} xref: GARD:9587 {source="MONDO:GARD"} @@ -277474,10 +277523,10 @@ name: glucocorticoid deficiency 3 subset: gard_rare {source="GARD:15450", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "familial glucocorticoid deficiency 3" RELATED [OMIM:609197] +synonym: "familial glucocorticoid deficiency 3" RELATED [] synonym: "GCCD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609197] -synonym: "glucocorticoid deficiency 2" RELATED [OMIM:609197] -synonym: "glucocorticoid deficiency 2, formerly" RELATED [OMIM:609197] +synonym: "glucocorticoid deficiency 2" RELATED [] +synonym: "glucocorticoid deficiency 2, formerly" RELATED [] synonym: "glucocorticoid deficiency 3" EXACT [MONDO:Lexical, OMIM:609197] xref: GARD:15450 {source="MONDO:GARD"} xref: MEDGEN:332252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -277499,27 +277548,27 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant distal myopathy caused by mutation in MYOT" EXACT [MONDO:design_pattern] synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant limb-girdle muscular dystrophy type 1A" EXACT [MONDO:0008032] +synonym: "autosomal dominant limb-girdle muscular dystrophy type 1A" EXACT [DOID:0080094, MONDO:0008032, Orphanet:266] synonym: "autosomal dominant spheroid body myopathy" RELATED [GARD:0008711] synonym: "distal myotilinopathy" EXACT [Orphanet:98911] -synonym: "LGMD1" RELATED ABBREVIATION [GARD:0010229, OMIM:159000] -synonym: "LGMD1A" EXACT ABBREVIATION [DOID:0110300, GARD:0010229, MONDO:Lexical, OMIM:159000, Orphanet:266] -synonym: "limb-girdle muscular dystrophy due to myotilin deficiency" EXACT [DOID:0110300, Orphanet:266] +synonym: "LGMD1" RELATED ABBREVIATION [GARD:0010229] +synonym: "LGMD1A" EXACT ABBREVIATION [DOID:0080094, GARD:0010229, MONDO:Lexical, Orphanet:266] +synonym: "limb-girdle muscular dystrophy due to myotilin deficiency" EXACT [Orphanet:266] synonym: "limb-girdle muscular dystrophy type 1A" RELATED [GARD:0010229] -synonym: "MFM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609200] -synonym: "muscular dystrophy limb-girdle type 1A" EXACT [DOID:0110300] -synonym: "muscular dystrophy, limb-girdle, type 1A" RELATED [MONDO:Lexical, OMIM:159000] -synonym: "muscular dystrophy, proximal, type 1A" RELATED [GARD:0010229, OMIM:159000] -synonym: "myofibrillar myopathy type 3" EXACT [DOID:0080094, MONDORULE:1] -synonym: "myopathy, myofibrillar, 3" RELATED [MONDO:Lexical, OMIM:609200] -synonym: "myopathy, myofibrillar, myotilin-related" RELATED [OMIM:609200] -synonym: "myopathy, myofibrillar, type 3" EXACT [MONDORULE:1, OMIM:609200] -synonym: "myopathy, spheroid body" RELATED [OMIM:182920] +synonym: "MFM3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "muscular dystrophy limb-girdle type 1A" EXACT [] +synonym: "muscular dystrophy, limb-girdle, type 1A" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy, proximal, type 1A" RELATED [GARD:0010229] +synonym: "myofibrillar myopathy type 3" EXACT [MONDORULE:1] +synonym: "myopathy, myofibrillar, 3" RELATED [MONDO:Lexical] +synonym: "myopathy, myofibrillar, myotilin-related" RELATED [] +synonym: "myopathy, myofibrillar, type 3" EXACT [MONDORULE:1] +synonym: "myopathy, spheroid body" RELATED [] synonym: "MYOT autosomal dominant distal myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MYOT autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "myotilinopathy" EXACT [DOID:0080094, OMIM:609200] -synonym: "proximal muscular dystrophy type 1A" EXACT [DOID:0110300] -synonym: "spheroid body myopathy" EXACT [MONDO:0008448] +synonym: "proximal muscular dystrophy type 1A" EXACT [] +synonym: "spheroid body myopathy" EXACT [DOID:0080094, MONDO:0008448, Orphanet:268129] xref: DOID:0080094 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0110300 {source="MONDO:equivalentObsolete"} xref: GARD:16871 {source="MONDO:GARD"} @@ -277564,12 +277613,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FHONDA syndrome" EXACT [Orphanet:397618] synonym: "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome" EXACT CLINGEN_LABEL [] -synonym: "foveal hypoplasia 2" RELATED [MONDO:Lexical, OMIM:609218] -synonym: "foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism" RELATED [OMIM:609218] -synonym: "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis" RELATED [OMIM:609218] -synonym: "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis" EXACT [OMIM:609218, OMIM:genemap2] -synonym: "foveal hypoplasia type 2" EXACT [MONDORULE:1, OMIM:609218] -synonym: "FVH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609218] +synonym: "foveal hypoplasia 2" RELATED [MONDO:Lexical] +synonym: "foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism" RELATED [] +synonym: "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis" RELATED [] +synonym: "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis" EXACT [] +synonym: "foveal hypoplasia type 2" EXACT [MONDORULE:1] +synonym: "FVH2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070531 {source="MONDO:equivalentTo"} xref: GARD:17632 {source="MONDO:GARD"} xref: ICD10CM:Q15.8 {source="Orphanet:397618/attributed", source="Orphanet:397618/ntbt", source="Orphanet:397618"} @@ -277595,11 +277644,11 @@ def: "Any Bruck syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:10023", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BRKS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609220] +synonym: "BRKS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Bruck syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609220] synonym: "Bruck syndrome caused by mutation in PLOD2" EXACT [MONDO:design_pattern] -synonym: "Bruck syndrome type 2" EXACT [MONDORULE:1, OMIM:609220] -synonym: "osteogenesis imperfecta with congenital Joint contractures" RELATED [OMIM:609220] +synonym: "Bruck syndrome type 2" EXACT [MONDORULE:1] +synonym: "osteogenesis imperfecta with congenital Joint contractures" RELATED [] synonym: "PLOD2 Bruck syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:10023 {source="MONDO:GARD"} xref: MEDGEN:373129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -277618,7 +277667,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012218 name: dandy-walker malformation with occipital cephalocele, autosomal dominant synonym: "ADDWOC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609222] -synonym: "Dandy-Walker malformation with occipital cephalocele, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609222] +synonym: "Dandy-Walker malformation with occipital cephalocele, autosomal dominant" RELATED [MONDO:Lexical] xref: MEDGEN:393273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567185 {source="MONDO:equivalentTo"} xref: OMIM:609222 {source="MONDO:equivalentTo"} @@ -277649,12 +277698,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79478"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Griscelli disease type 3" RELATED [Orphanet:79478] -synonym: "Griscelli syndrome type 3" EXACT CLINGEN_LABEL [] -synonym: "Griscelli syndrome, type 3" RELATED [MONDO:Lexical, OMIM:609227] -synonym: "Griscelli-PruniC)ras syndrome type 3" EXACT [Orphanet:79478] -synonym: "Griscelli-Pruniéras syndrome type 3" EXACT [DOID:0060834] -synonym: "Griscelli-Pruni��ras syndrome type 3" EXACT [DOID:0060834] +synonym: "Griscelli disease type 3" RELATED [] +synonym: "Griscelli syndrome type 3" EXACT CLINGEN_LABEL [DOID:0060834, icd11.foundation:1959052636, Orphanet:79478] +synonym: "Griscelli syndrome, type 3" RELATED [MONDO:Lexical] +synonym: "Griscelli-PruniC)ras syndrome type 3" EXACT [] +synonym: "Griscelli-Pruniéras syndrome type 3" EXACT [Orphanet:79478] +synonym: "Griscelli-Pruni��ras syndrome type 3" EXACT [] synonym: "GS3" EXACT ABBREVIATION [DOID:0060834, MONDO:Lexical, OMIM:609227] synonym: "hypomelanosis with no immunologic or neurologic manifestations" RELATED [GARD:0009715] xref: DOID:0060834 {source="MONDO:equivalentTo"} @@ -277682,20 +277731,20 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79279"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 1" RELATED [OMIM:609241] +synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 1" RELATED [] synonym: "alpha-N-acetylgalactosaminidase deficiency, type 1" RELATED [GARD:0000116] -synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 3" RELATED [OMIM:609241] +synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 3" RELATED [] synonym: "N-acetyl-alpha-D-galactosaminidase deficiency type III" RELATED [GARD:0003903] -synonym: "NAGA deficiency type 1" EXACT [Orphanet:79279] -synonym: "NAGA deficiency, type 1" RELATED [GARD:0000116, OMIM:609241] -synonym: "NAGA deficiency, type 3" RELATED [OMIM:609241] -synonym: "neuroaxonal dystrophy, Schindler type" RELATED [GARD:0000116, OMIM:609241] -synonym: "Schindler disease type 1" EXACT [Orphanet:79279] +synonym: "NAGA deficiency type 1" EXACT [DOID:0112318, Orphanet:79279] +synonym: "NAGA deficiency, type 1" RELATED [GARD:0000116] +synonym: "NAGA deficiency, type 3" RELATED [] +synonym: "neuroaxonal dystrophy, Schindler type" RELATED [GARD:0000116] +synonym: "Schindler disease type 1" EXACT [DOID:0112318, icd11.foundation:1058486825, Orphanet:79279] synonym: "Schindler disease type I" RELATED [GARD:0000116] -synonym: "Schindler disease, type 1" RELATED [OMIM:609241] -synonym: "Schindler disease, type 3" RELATED [OMIM:609241] -synonym: "Schindler disease, type I" RELATED [OMIM:609241] -synonym: "Schindler disease, type III" EXACT [OMIM:609241, OMIM:genemap2] +synonym: "Schindler disease, type 1" RELATED [] +synonym: "Schindler disease, type 3" RELATED [] +synonym: "Schindler disease, type I" RELATED [] +synonym: "Schindler disease, type III" EXACT [] xref: DOID:0112318 {source="MONDO:equivalentTo"} xref: GARD:116 {source="MONDO:GARD"} xref: ICD10CM:E77.1 {source="Orphanet:79279/attributed", source="Orphanet:79279/ntbt", source="Orphanet:79279"} @@ -277721,16 +277770,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79280"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult-onset Alpha-N-acetylgalactosaminidase deficiency" EXACT [Orphanet:79280] +synonym: "adult-onset Alpha-N-acetylgalactosaminidase deficiency" EXACT [DOID:0112319, icd11.foundation:266505438, Orphanet:79280] synonym: "Alpha-N-acetylgalactosaminidase deficiency adult onset" RELATED [GARD:0009161] -synonym: "Alpha-N-acetylgalactosaminidase deficiency, adult-onset" RELATED [OMIM:609242] -synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 2" RELATED [OMIM:609242] -synonym: "KANZAKI disease" RELATED [OMIM:609242] -synonym: "Kanzaki disease" EXACT [Orphanet:79280] -synonym: "NAGA deficiency type 2" EXACT [Orphanet:79280] -synonym: "Naga deficiency, type 2" RELATED [OMIM:609242] -synonym: "Schindler disease type 2" EXACT [Orphanet:79280] -synonym: "Schindler disease, type 2" RELATED [OMIM:609242] +synonym: "Alpha-N-acetylgalactosaminidase deficiency, adult-onset" RELATED [] +synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 2" RELATED [] +synonym: "KANZAKI disease" RELATED [] +synonym: "Kanzaki disease" EXACT [DOID:0112319, icd11.foundation:266505438, OMIM:609242, Orphanet:79280] +synonym: "NAGA deficiency type 2" EXACT [DOID:0112319, Orphanet:79280] +synonym: "Naga deficiency, type 2" RELATED [] +synonym: "Schindler disease type 2" EXACT [icd11.foundation:266505438, Orphanet:79280] +synonym: "Schindler disease, type 2" RELATED [] xref: DOID:0112319 {source="MONDO:equivalentTo"} xref: GARD:9161 {source="MONDO:GARD"} xref: ICD10CM:E77.1 {source="Orphanet:79280/attributed", source="Orphanet:79280/ntbt", source="Orphanet:79280"} @@ -277749,7 +277798,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012223 name: hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate synonym: "hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate" EXACT [OMIM:609250] -synonym: "Marie Unna-like scalp hypotrichosis" RELATED [OMIM:609250] +synonym: "Marie Unna-like scalp hypotrichosis" RELATED [] xref: MEDGEN:324538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563765 {source="MONDO:equivalentTo"} xref: OMIM:609250 {source="MONDO:equivalentTo"} @@ -277759,8 +277808,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0012224 name: febrile seizures, familial, 6 -synonym: "convulsions, familial febrile, 6" RELATED [OMIM:609253] -synonym: "FEB6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609253] +synonym: "convulsions, familial febrile, 6" RELATED [] +synonym: "FEB6" EXACT ABBREVIATION [DOID:0111309, MONDO:Lexical, OMIM:609253] synonym: "febrile seizures, familial, 6" EXACT [MONDO:Lexical, OMIM:609253] xref: DOID:0111309 {source="MONDO:equivalentTo"} xref: MEDGEN:373107 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -277778,11 +277827,11 @@ subset: gard_rare {source="GARD:15451", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "IQCB1 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SENIOR-Loken syndrome 5" RELATED [OMIM:609254] +synonym: "SENIOR-Loken syndrome 5" RELATED [] synonym: "Senior-Loken syndrome 5" EXACT [MONDO:Lexical, OMIM:609254] synonym: "Senior-Loken syndrome caused by mutation in IQCB1" EXACT [MONDO:design_pattern] -synonym: "Senior-Loken syndrome type 5" EXACT [MONDORULE:1, OMIM:609254] -synonym: "SLSN5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609254] +synonym: "Senior-Loken syndrome type 5" EXACT [MONDORULE:1] +synonym: "SLSN5" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15451 {source="MONDO:GARD"} xref: MEDGEN:332226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563763 {source="MONDO:equivalentTo"} @@ -277798,8 +277847,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012226 name: febrile seizures, familial, 5 -synonym: "convulsions, familial febrile, 5" RELATED [OMIM:609255] -synonym: "FEB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609255] +synonym: "convulsions, familial febrile, 5" RELATED [] +synonym: "FEB5" EXACT ABBREVIATION [DOID:0111306, MONDO:Lexical, OMIM:609255] synonym: "febrile seizures, familial, 5" EXACT [MONDO:Lexical, OMIM:609255] xref: DOID:0111306 {source="MONDO:equivalentTo"} xref: MEDGEN:322934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -277868,23 +277917,23 @@ subset: orphanet_rare {source="Orphanet:99947"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" EXACT [DOID:0110155] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A2" RELATED [Orphanet:99947] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A2" RELATED [] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease type 2A2A" EXACT [NCIT:C150646] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2" RELATED [OMIM:609260] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A" RELATED [OMIM:609260] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2" RELATED [MONDO:Lexical, OMIM:609260] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2A" EXACT [OMIM:609260, OMIM:genemap2] -synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A2" RELATED [OMIM:609260] +synonym: "Charcot-Marie-Tooth disease type 2A2A" EXACT [DOID:0110155, NCIT:C150646] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2A" EXACT [] +synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A2" RELATED [] synonym: "Charcot-Marie-Tooth neuronal type 2A2" EXACT [DOID:0110155] synonym: "Charcot-Marie-Tooth neuropathy type 2A2" EXACT [DOID:0110155] -synonym: "Charcot-Marie-Tooth neuropathy, type 2A2" RELATED [OMIM:609260] -synonym: "CMT2A2" EXACT ABBREVIATION [DOID:0110155, MONDO:Lexical, OMIM:609260, Orphanet:99947] -synonym: "CMT2A2A" RELATED ABBREVIATION [OMIM:609260] -synonym: "hereditary motor and sensory neuropathy IIA2" EXACT [DOID:0110155] -synonym: "hereditary motor and sensory neuropathy IIa2" RELATED [OMIM:609260] -synonym: "HMSN IIA2" EXACT [DOID:0110155] -synonym: "HMSN IIa2" RELATED [OMIM:609260] +synonym: "Charcot-Marie-Tooth neuropathy, type 2A2" RELATED [] +synonym: "CMT2A2" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C150646, Orphanet:99947] +synonym: "CMT2A2A" RELATED ABBREVIATION [] +synonym: "hereditary motor and sensory neuropathy IIA2" EXACT [DOID:0110155, OMIM:609260] +synonym: "hereditary motor and sensory neuropathy IIa2" RELATED [] +synonym: "HMSN IIA2" EXACT ABBREVIATION [DOID:0110155, OMIM:609260] +synonym: "HMSN IIa2" RELATED [] synonym: "HMSN2A2" EXACT ABBREVIATION [DOID:0110155] synonym: "MFN2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110155 {source="MONDO:equivalentTo"} @@ -277922,10 +277971,10 @@ id: MONDO:0012233 name: obsolete Li-Fraumeni syndrome 2 def: "OBSOLETE. Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CHEK2 Li-Fraumeni syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609265] -synonym: "Li-Fraumeni syndrome 2" EXACT [MONDO:Lexical, OMIM:609265] +synonym: "LFS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Li-Fraumeni syndrome 2" EXACT [MONDO:Lexical] synonym: "Li-Fraumeni syndrome caused by mutation in CHEK2" EXACT [MONDO:design_pattern] -synonym: "Li-Fraumeni syndrome type 2" EXACT [MONDORULE:1, OMIM:609265] +synonym: "Li-Fraumeni syndrome type 2" EXACT [MONDORULE:1] xref: DOID:0111504 {source="MONDO:obsoleteEquivalent"} xref: MESH:C563755 {source="MONDO:obsoleteEquivalent"} xref: OMIM:609265 {source="MONDO:obsoleteEquivalent"} @@ -277952,13 +278001,13 @@ subset: ordo_disorder {source="Orphanet:284324"} subset: orphanet_rare {source="Orphanet:284324"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive spinocerebellar ataxia type 7" EXACT [DOID:0080059, MONDORULE:1, Orphanet:284324] +synonym: "autosomal recessive spinocerebellar ataxia type 7" EXACT [MONDORULE:1, Orphanet:284324] synonym: "childhood onset autosomal recessive slowly progressive spinocerebellar ataxia" RELATED [GARD:0012232] -synonym: "childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" RELATED [Orphanet:284324] -synonym: "SCAR7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609270, Orphanet:284324] +synonym: "childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" RELATED [] +synonym: "SCAR7" EXACT ABBREVIATION [DOID:0080059, MONDO:Lexical, OMIM:609270, Orphanet:284324] synonym: "spinocerebellar ataxia autosomal recessive 7" RELATED [GARD:0012232] -synonym: "spinocerebellar ataxia, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:609270] -synonym: "spinocerebellar ataxia, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:609270] +synonym: "spinocerebellar ataxia, autosomal recessive 7" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 7" EXACT [MONDORULE:1] xref: DOID:0080059 {source="MONDO:equivalentTo"} xref: GARD:12232 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:284324", source="Orphanet:284324/attributed", source="Orphanet:284324/ntbt"} @@ -277995,11 +278044,11 @@ subset: gard_rare {source="GARD:15452", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "KBTBD13 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "NEM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609273] -synonym: "nemaline myopathy 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609273] +synonym: "NEM6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nemaline myopathy 6" EXACT CLINGEN_LABEL [DOID:0110935, MONDO:Lexical, OMIM:609273] synonym: "nemaline myopathy 6, autosomal dominant" EXACT [DOID:0110935] synonym: "nemaline myopathy caused by mutation in KBTBD13" EXACT [MONDO:design_pattern] -synonym: "nemaline myopathy type 6" EXACT [DOID:0110935, MONDORULE:1, OMIM:609273] +synonym: "nemaline myopathy type 6" EXACT [MONDORULE:1] xref: DOID:0110935 {source="MONDO:equivalentTo"} xref: GARD:15452 {source="MONDO:GARD"} xref: MEDGEN:373095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -278021,11 +278070,11 @@ def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions subset: gard_rare {source="GARD:16498", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PEOA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609283] +synonym: "PEOA2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:609283] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:609283] -synonym: "progressive external ophthalmoplegia, autosomal dominant 2" RELATED [OMIM:609283] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2" EXACT [MONDORULE:1] +synonym: "progressive external ophthalmoplegia, autosomal dominant 2" RELATED [] synonym: "SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111517 {source="MONDO:equivalentTo"} xref: GARD:16498 {source="MONDO:GARD"} @@ -278047,12 +278096,12 @@ def: "Any congenital myopathy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:15453", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NEM1" RELATED ABBREVIATION [OMIM:609284] -synonym: "Nem1" RELATED [DOID:0110926, MONDO:Lexical] -synonym: "nemaline myopathy 1" RELATED [MONDO:Lexical, OMIM:609284] -synonym: "nemaline myopathy 1, autosomal dominant or recessive" RELATED [DOID:0110926] +synonym: "NEM1" RELATED ABBREVIATION [] +synonym: "Nem1" RELATED [MONDO:Lexical] +synonym: "nemaline myopathy 1" RELATED [MONDO:Lexical] +synonym: "nemaline myopathy 1, autosomal dominant or recessive" RELATED [] synonym: "nemaline myopathy caused by mutation in TPM3" EXACT [MONDO:design_pattern] -synonym: "nemaline myopathy type 1" RELATED [DOID:0110926, MONDORULE:1, OMIM:609284] +synonym: "nemaline myopathy type 1" RELATED [MONDORULE:1] synonym: "TPM3 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110926 {source="MONDO:equivalentTo"} xref: GARD:15453 {source="MONDO:GARD"} @@ -278077,13 +278126,13 @@ name: congenital myopathy 23 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15454", source="MONDO:GARD"} subset: rare -synonym: "cap myopathy 2" EXACT DEPRECATED [OMIM:609285] -synonym: "CAPM2" EXACT DEPRECATED [OMIM:609285] -synonym: "NEM4" EXACT ABBREVIATION [DOID:0110932, MONDO:Lexical, OMIM:609285] -synonym: "nemaline myopathy 4" EXACT [MONDO:Lexical, OMIM:609285] +synonym: "cap myopathy 2" EXACT DEPRECATED [DOID:0110932] +synonym: "CAPM2" EXACT DEPRECATED [] +synonym: "NEM4" EXACT ABBREVIATION [DOID:0110932, MONDO:Lexical, NCIT:C164225] +synonym: "nemaline myopathy 4" EXACT [DOID:0110932, MONDO:Lexical, NCIT:C164225, OMIM:609285] synonym: "nemaline myopathy 4, autosomal dominant" EXACT [DOID:0110932] synonym: "nemaline myopathy caused by mutation in TPM2" EXACT [MONDO:design_pattern] -synonym: "nemaline myopathy type 4" EXACT [DOID:0110932, MONDORULE:1, OMIM:609285] +synonym: "nemaline myopathy type 4" EXACT [MONDORULE:1] synonym: "TPM2 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110932 {source="MONDO:equivalentTo"} xref: GARD:15454 {source="MONDO:GARD"} @@ -278111,11 +278160,11 @@ def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions subset: gard_rare {source="GARD:16499", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PEOA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609286] +synonym: "PEOA3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:609286] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:609286] -synonym: "progressive external ophthalmoplegia, autosomal dominant 3" RELATED [OMIM:609286] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3" EXACT [MONDORULE:1] +synonym: "progressive external ophthalmoplegia, autosomal dominant 3" RELATED [] synonym: "TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111520 {source="MONDO:equivalentTo"} xref: GARD:16499 {source="MONDO:GARD"} @@ -278136,8 +278185,8 @@ name: syncope, familial vasovagal synonym: "familial neurocardiogenic syncope" RELATED [GARD:0009502] synonym: "familial vasovagal syncope" RELATED [GARD:0009502] synonym: "syncope familial neurocardiogenic" RELATED [GARD:0009502] -synonym: "syncope, familial Neurocardiogenic" RELATED [OMIM:609289] -synonym: "syncope, familial VASOVAGAL" RELATED [MONDO:Lexical, OMIM:609289] +synonym: "syncope, familial Neurocardiogenic" RELATED [] +synonym: "syncope, familial VASOVAGAL" RELATED [MONDO:Lexical] synonym: "VVS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609289] xref: MEDGEN:373086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536849 {source="MONDO:equivalentTo"} @@ -278150,7 +278199,7 @@ id: MONDO:0012243 name: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations subset: clingen {source="MONDO:CLINGEN"} synonym: "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" EXACT [OMIM:609296] -synonym: "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome" EXACT [MONDO:0035454] +synonym: "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome" EXACT [MONDO:0035454, Orphanet:567502] synonym: "BILU syndrome" EXACT [OMIM:609296, Orphanet:567502] synonym: "Hoffman syndrome" EXACT [OMIM:609296, Orphanet:567502] xref: MEDGEN:332208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -278169,9 +278218,9 @@ id: MONDO:0012244 name: prostate cancer, hereditary, 5 subset: gard_rare {source="GARD:15455", source="MONDO:GARD"} subset: rare -synonym: "HPC5" RELATED ABBREVIATION [OMIM:609299] +synonym: "HPC5" RELATED ABBREVIATION [] synonym: "prostate cancer, hereditary, 5" EXACT [OMIM:609299] -synonym: "prostate cancer, hereditary, type 5" EXACT [MONDORULE:1, OMIM:609299] +synonym: "prostate cancer, hereditary, type 5" EXACT [MONDORULE:1] xref: GARD:15455 {source="MONDO:GARD"} xref: MEDGEN:373085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563744 {source="MONDO:equivalentTo"} @@ -278189,11 +278238,11 @@ subset: gard_rare {source="GARD:15456", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DEE3" EXACT ABBREVIATION [OMIM:609304] -synonym: "developmental and epileptic encephalopathy 3" EXACT [OMIM:609304, OMIM:genemap2] +synonym: "developmental and epileptic encephalopathy 3" EXACT [DOID:0080440, OMIM:609304] synonym: "early infantile epileptic encephalopathy caused by mutation in SLC25A22" EXACT [MONDO:design_pattern] -synonym: "EIEE3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609304] +synonym: "EIEE3" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 3" EXACT [MONDO:Lexical, OMIM:609304] -synonym: "epileptic encephalopathy, early infantile, type 3" EXACT [MONDORULE:1, OMIM:609304] +synonym: "epileptic encephalopathy, early infantile, type 3" EXACT [MONDORULE:1] synonym: "SLC25A22 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080440 {source="MONDO:equivalentTo"} xref: GARD:15456 {source="MONDO:GARD"} @@ -278219,8 +278268,8 @@ subset: orphanet_rare {source="Orphanet:101112"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA26" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609306, Orphanet:101112] -synonym: "spinocerebellar ataxia 26" RELATED [MONDO:Lexical, OMIM:609306] -synonym: "spinocerebellar ataxia type 26" EXACT [MONDORULE:2, OMIM:609306] +synonym: "spinocerebellar ataxia 26" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 26" EXACT [DOID:0050975, icd11.foundation:586976339, MONDORULE:2, Orphanet:101112] xref: DOID:0050975 {source="MONDO:equivalentTo"} xref: GARD:9995 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:101112/attributed", source="Orphanet:101112/ntbt", source="Orphanet:101112"} @@ -278245,10 +278294,10 @@ subset: orphanet_rare {source="Orphanet:98764"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebellar ataxia autosomal dominant FGF14-related" RELATED [GARD:0009963] -synonym: "cerebellar ataxia, autosomal dominant, Fgf14-related" RELATED [OMIM:609307] -synonym: "SCA27" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609307, Orphanet:98764] -synonym: "spinocerebellar ataxia 27" RELATED [MONDO:Lexical, OMIM:609307] -synonym: "spinocerebellar ataxia type 27" EXACT [MONDORULE:2, OMIM:609307] +synonym: "cerebellar ataxia, autosomal dominant, Fgf14-related" RELATED [] +synonym: "SCA27" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:98764] +synonym: "spinocerebellar ataxia 27" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 27" EXACT [DOID:0050976, icd11.foundation:1408059647, MONDORULE:2, Orphanet:98764] xref: DOID:0050976 {source="MONDO:equivalentTo"} xref: GARD:9963 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:98764/attributed", source="Orphanet:98764/ntbt", source="Orphanet:98764"} @@ -278274,16 +278323,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1" EXACT [MONDO:design_pattern] synonym: "LGMD-POMT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] -synonym: "LGMD2K" EXACT ABBREVIATION [DOID:0110297, Orphanet:86812] +synonym: "LGMD2K" EXACT ABBREVIATION [DOID:0110297, NCIT:C133730, Orphanet:86812] synonym: "limb-girdle muscular dystrophy - intellectual disability" RELATED [GARD:0012535] synonym: "limb-girdle muscular dystrophy type 2K" RELATED [GARD:0012535] synonym: "limb-girdle muscular dystrophy-intellectual disability syndrome" EXACT [DOID:0110297, Orphanet:86812] -synonym: "MDDGC1" EXACT ABBREVIATION [DOID:0110297, MONDO:Lexical, OMIM:609308] +synonym: "MDDGC1" EXACT ABBREVIATION [DOID:0110297, MONDO:Lexical, NCIT:C133730, OMIM:609308] synonym: "muscular dystrophy limb-girdle type 2K" EXACT [DOID:0110297] -synonym: "muscular dystrophy, limb-girdle, type 2K" RELATED [OMIM:609308] +synonym: "muscular dystrophy, limb-girdle, type 2K" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1" EXACT [DOID:0110297] synonym: "muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1" EXACT [NCIT:C133730] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" RELATED [MONDO:Lexical, OMIM:609308] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" RELATED [MONDO:Lexical] synonym: "POMT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110297 {source="MONDO:equivalentTo"} xref: GARD:12535 {source="MONDO:GARD"} @@ -278313,13 +278362,13 @@ def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease subset: gard_rare {source="GARD:15457", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "COCA2" RELATED ABBREVIATION [OMIM:609310] -synonym: "colon cancer, familial nonpolyposis, type 2" RELATED [OMIM:609310] +synonym: "COCA2" RELATED ABBREVIATION [] +synonym: "colon cancer, familial nonpolyposis, type 2" RELATED [] synonym: "colorectal cancer, hereditary nonpolyposis, type 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609310] synonym: "familial non-polyposis colon cancer type 2" EXACT [NCIT:C6726] synonym: "Hereditary non-polyposis colon cancer type 2" EXACT [NCIT:C6726] -synonym: "Hereditary nonpolyposis colorectal cancer type 2" EXACT [NCIT:C6726] -synonym: "HNPCC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609310] +synonym: "Hereditary nonpolyposis colorectal cancer type 2" EXACT [DOID:0070274, NCIT:C6726] +synonym: "HNPCC2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Lynch 2 syndrome" EXACT [NCIT:C6726] xref: DOID:0070274 {source="MONDO:equivalentTo"} xref: GARD:15457 {source="MONDO:GARD"} @@ -278348,12 +278397,12 @@ subset: rare synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192] synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease type 4H" EXACT CLINGEN_LABEL [] -synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4H" RELATED [OMIM:609311] -synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H" RELATED [OMIM:609311] -synonym: "Charcot-Marie-Tooth disease, type 4H" RELATED [GARD:0012442, MONDO:Lexical, OMIM:609311] +synonym: "Charcot-Marie-Tooth disease type 4H" EXACT CLINGEN_LABEL [DOID:0110192, icd11.foundation:214411126, Orphanet:99954] +synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4H" RELATED [] +synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 4H" RELATED [GARD:0012442, MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy type 4H" EXACT [DOID:0110192] -synonym: "Charcot-Marie-Tooth neuropathy, type 4H" RELATED [OMIM:609311] +synonym: "Charcot-Marie-Tooth neuropathy, type 4H" RELATED [] synonym: "CMT4H" EXACT ABBREVIATION [DOID:0110192, MONDO:Lexical, OMIM:609311, Orphanet:99954] synonym: "FGD4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110192 {source="MONDO:equivalentTo"} @@ -278384,14 +278433,14 @@ subset: ordo_disorder {source="Orphanet:171851"} subset: orphanet_rare {source="Orphanet:171851"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "erythrokeratodermia variabilis 3" EXACT [DOID:0060483, OMIM:609313, Orphanet:171851] -synonym: "erythrokeratodermia variabilis, Kamouraska type" EXACT [DOID:0060483, OMIM:609313, Orphanet:171851] -synonym: "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT [DOID:0060483] -synonym: "intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" RELATED [MONDO:Lexical, OMIM:609313] +synonym: "erythrokeratodermia variabilis 3" EXACT [DOID:0060483, OMIM:609313] +synonym: "erythrokeratodermia variabilis, Kamouraska type" EXACT [DOID:0060483, OMIM:609313] +synonym: "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT [] +synonym: "intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" RELATED [MONDO:Lexical] synonym: "intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome" EXACT [Orphanet:171851] -synonym: "MEDNIK" RELATED DEPRECATED [MONDO:Lexical, OMIM:609313] +synonym: "MEDNIK" RELATED DEPRECATED [MONDO:Lexical] synonym: "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT DEPRECATED [DOID:0060483] -synonym: "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" RELATED DEPRECATED [MONDO:Lexical, OMIM:609313] +synonym: "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0060483 {source="MONDO:equivalentTo"} xref: GARD:17072 {source="MONDO:GARD"} xref: MEDGEN:322893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -278417,19 +278466,19 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18318", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "At/RT" RELATED [OMIM:609322] -synonym: "brain tumor, posterior fossa, of infancy, familial" RELATED [OMIM:609322] +synonym: "At/RT" RELATED [] +synonym: "brain tumor, posterior fossa, of infancy, familial" RELATED [] synonym: "familial rhabdoid tumor caused by mutation in SMARCB1" EXACT [MONDO:design_pattern] synonym: "familial rhabdoid tumour caused by mutation in SMARCB1" EXACT OMO:0003005 [] -synonym: "malignant rhabdoid tumor, somatic" RELATED [OMIM:609322] -synonym: "rhabdoid tumor predisposition syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609322] -synonym: "rhabdoid tumor predisposition syndrome type 1" EXACT [MONDORULE:1, OMIM:609322] -synonym: "rhabdoid tumors, somatic" EXACT [OMIM:609322, OMIM:genemap2] +synonym: "malignant rhabdoid tumor, somatic" RELATED [] +synonym: "rhabdoid tumor predisposition syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C178393, OMIM:609322] +synonym: "rhabdoid tumor predisposition syndrome type 1" EXACT [MONDORULE:1] +synonym: "rhabdoid tumors, somatic" EXACT [] synonym: "rhabdoid tumour predisposition syndrome type 1" EXACT OMO:0003005 [] -synonym: "RTPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609322] +synonym: "RTPS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SMARCB1 familial rhabdoid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SMARCB1 familial rhabdoid tumour" EXACT OMO:0003005 [] -synonym: "teratoid tumor, atypical" RELATED [OMIM:609322] +synonym: "teratoid tumor, atypical" RELATED [] xref: GARD:18318 {source="MONDO:GARD"} xref: MEDGEN:322892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563738 {source="MONDO:equivalentTo"} @@ -278456,7 +278505,7 @@ subset: ordo_disorder {source="Orphanet:166029"} subset: orphanet_rare {source="Orphanet:166029"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia" RELATED [OMIM:609324] +synonym: "epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia" RELATED [] xref: GARD:17015 {source="MONDO:GARD"} xref: ICD10CM:Q77.3 {source="MONDO:relatedTo", source="Orphanet:166029", source="Orphanet:166029/attributed", source="Orphanet:166029/ntbt"} xref: MEDGEN:324484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -278476,7 +278525,7 @@ subset: ordo_disorder {source="Orphanet:166032"} subset: orphanet_rare {source="Orphanet:166032"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epiphyseal dysplasia, multiple, with miniepiphyses" RELATED [OMIM:609325] +synonym: "epiphyseal dysplasia, multiple, with miniepiphyses" RELATED [] xref: GARD:17016 {source="MONDO:GARD"} xref: ICD10CM:Q77.3 {source="Orphanet:166032", source="MONDO:relatedTo", source="Orphanet:166032/attributed", source="Orphanet:166032/ntbt"} xref: MEDGEN:332176 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -278513,11 +278562,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive pure spastic paraplegia caused by mutation in DDHD1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 28" EXACT [DOID:0110779] -synonym: "autosomal recessive spastic paraplegia type 28" EXACT [DOID:0110779] +synonym: "autosomal recessive spastic paraplegia type 28" EXACT [DOID:0110779, Orphanet:101008] synonym: "DDHD1 autosomal recessive pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia 28" EXACT CLINGEN_LABEL [] -synonym: "hereditary spastic paraplegia type 28" EXACT [DOID:0110779, MONDORULE:2] -synonym: "spastic paraplegia 28, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609340] +synonym: "hereditary spastic paraplegia 28" EXACT CLINGEN_LABEL [DOID:0110779] +synonym: "hereditary spastic paraplegia type 28" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 28, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG28" EXACT ABBREVIATION [DOID:0110779, MONDO:Lexical, OMIM:609340, Orphanet:101008] xref: DOID:0110779 {source="MONDO:equivalentTo"} xref: GARD:16941 {source="MONDO:GARD"} @@ -278539,7 +278588,7 @@ name: Cerebrorenodigital syndrome subset: gard_rare {source="GARD:15458", source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:1396"} subset: rare -synonym: "CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula" RELATED [OMIM:609345] +synonym: "CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula" RELATED [] xref: GARD:15458 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1396", source="Orphanet:1396/attributed", source="Orphanet:1396/ntbt"} xref: MEDGEN:373053 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -278562,7 +278611,7 @@ subset: orphanet_rare {source="Orphanet:158681"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "EBS-migr" EXACT [Orphanet:158681] -synonym: "epidermolysis bullosa simplex 2E, with migratory circinate erythema" EXACT [OMIM:609352, OMIM:genemap2] +synonym: "epidermolysis bullosa simplex 2E, with migratory circinate erythema" EXACT [OMIM:609352] synonym: "epidermolysis bullosa simplex with migratory circinate erythema" EXACT [OMIM:609352] xref: GARD:16990 {source="MONDO:GARD"} xref: ICD10CM:Q81.0 {source="Orphanet:158681/attributed", source="Orphanet:158681/ntbt", source="Orphanet:158681"} @@ -278582,7 +278631,7 @@ id: MONDO:0012259 name: colloid cysts of third ventricle def: "Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening." [https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle] synonym: "colloid cysts of third ventricle" EXACT [OMIM:609363] -synonym: "neuroepithelial cysts of third ventricle" RELATED [OMIM:609363] +synonym: "neuroepithelial cysts of third ventricle" RELATED [] xref: MEDGEN:82744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535966 {source="MONDO:equivalentTo"} xref: OMIM:609363 {source="MONDO:equivalentTo"} @@ -278598,10 +278647,10 @@ subset: gard_rare {source="GARD:9492", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive congenital nuclear cataract 1" EXACT [DOID:0110261] -synonym: "cataract 35" EXACT [MONDO:Lexical, OMIM:609376] +synonym: "cataract 35" EXACT [DOID:0110261, MONDO:Lexical, OMIM:609376] synonym: "cataract 35, congenital nuclear" EXACT [DOID:0110261] -synonym: "cataract type 35" EXACT [DOID:0110261, MONDORULE:2] -synonym: "cataract, congenital nuclear, autosomal recessive 1" RELATED [OMIM:609376] +synonym: "cataract type 35" EXACT [MONDORULE:2] +synonym: "cataract, congenital nuclear, autosomal recessive 1" RELATED [] synonym: "CATCN1" EXACT ABBREVIATION [DOID:0110261] synonym: "CTRCT35" EXACT ABBREVIATION [DOID:0110261, MONDO:Lexical, OMIM:609376] xref: DOID:0110261 {source="MONDO:equivalentTo"} @@ -278623,7 +278672,7 @@ is_a: MONDO:0020379 {source="MONDO:Redundant", source="Orphanet:98995/btnt"} ! e id: MONDO:0012261 name: autism, susceptibility to, 6 subset: predisposition -synonym: "autism susceptibility 6" EXACT [OMIM:609378, OMIM:genemap2] +synonym: "autism susceptibility 6" EXACT [] synonym: "autism, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:609378] synonym: "AUTS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609378] xref: MEDGEN:324472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -278641,8 +278690,8 @@ subset: gard_rare {source="GARD:15459", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CFEOM3C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609384] -synonym: "Feom4 locus" RELATED [OMIM:609384] -synonym: "fibrosis of extraocular muscles, congenital, 3C" RELATED [MONDO:Lexical, OMIM:609384] +synonym: "Feom4 locus" RELATED [] +synonym: "fibrosis of extraocular muscles, congenital, 3C" RELATED [MONDO:Lexical] xref: DOID:0081019 {source="MONDO:equivalentTo"} xref: GARD:15459 {source="MONDO:GARD"} xref: MEDGEN:412956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -278659,9 +278708,9 @@ id: MONDO:0012263 name: autoimmune disease, susceptibility to, 4 subset: predisposition synonym: "AIS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609400] -synonym: "autoimmune disease susceptibility locus, chromosome 4-related" RELATED [OMIM:609400] +synonym: "autoimmune disease susceptibility locus, chromosome 4-related" RELATED [] synonym: "autoimmune disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:609400] -synonym: "vitiligo-associated multiple autoimmune disease susceptibility 5" RELATED [OMIM:609400] +synonym: "vitiligo-associated multiple autoimmune disease susceptibility 5" RELATED [] xref: MEDGEN:332163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609400 {source="MONDO:equivalentTo"} xref: Orphanet:247871 {source="OMIM:609400"} @@ -278677,7 +278726,7 @@ subset: gard_rare {source="GARD:18390", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PEE2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609402] -synonym: "PREECLAMPSIA/eclampsia 2" RELATED [MONDO:Lexical, OMIM:609402] +synonym: "PREECLAMPSIA/eclampsia 2" RELATED [MONDO:Lexical] xref: GARD:18390 {source="MONDO:GARD"} xref: MEDGEN:322876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609402 {source="MONDO:equivalentTo"} @@ -278692,7 +278741,7 @@ subset: gard_rare {source="GARD:18391", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PEE3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609403] -synonym: "PREECLAMPSIA/eclampsia 3" RELATED [MONDO:Lexical, OMIM:609403] +synonym: "PREECLAMPSIA/eclampsia 3" RELATED [MONDO:Lexical] xref: GARD:18391 {source="MONDO:GARD"} xref: MEDGEN:322875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609403 {source="MONDO:equivalentTo"} @@ -278707,11 +278756,11 @@ def: "Any preeclampsia in which the cause of the disease is a mutation in the ST subset: gard_rare {source="GARD:18392", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PEE4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609404] +synonym: "PEE4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "preeclampsia caused by mutation in STOX1" EXACT [MONDO:design_pattern] -synonym: "PREECLAMPSIA/eclampsia 4" RELATED [OMIM:609404] +synonym: "PREECLAMPSIA/eclampsia 4" RELATED [] synonym: "preeclampsia/eclampsia 4" EXACT [MONDO:Lexical, OMIM:609404] -synonym: "Preeclampsia/eclampsia type 4" EXACT [MONDORULE:1, OMIM:609404] +synonym: "Preeclampsia/eclampsia type 4" EXACT [MONDORULE:1] synonym: "STOX1 preeclampsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18392 {source="MONDO:GARD"} xref: MEDGEN:322874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -278731,8 +278780,8 @@ def: "A holoprosencephaly that has material basis in variation in the chromosome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "holoprosencephaly 8" EXACT [MONDO:Lexical, OMIM:609408] -synonym: "holoprosencephaly type 8" EXACT [DOID:0110879, MONDORULE:1] +synonym: "holoprosencephaly 8" EXACT [DOID:0110879, MONDO:Lexical, OMIM:609408] +synonym: "holoprosencephaly type 8" EXACT [MONDORULE:1] synonym: "HPE8" EXACT ABBREVIATION [DOID:0110879, MONDO:Lexical, OMIM:609408] xref: DOID:0110879 {source="MONDO:equivalentTo"} xref: MEDGEN:322873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -278750,10 +278799,10 @@ subset: otar {source="MONDO:OTAR"} synonym: "acquired immune deficiency" EXACT [DOID:635, NCIT:C2851] synonym: "acquired immune deficiency syndrome" RELATED [DOID:635] synonym: "acquired immunodeficiency disease" EXACT [NCIT:C2851] -synonym: "acquired immunodeficiency syndrome" RELATED [DOID:635] -synonym: "acquired immunodeficiency syndrome, AIDS" EXACT [NCIT:C2851] -synonym: "AIDS" EXACT ABBREVIATION [DOID:635] -synonym: "AIDS, acquired immunodeficiency syndrome" EXACT [NCIT:C2851] +synonym: "acquired immunodeficiency syndrome" RELATED [] +synonym: "acquired immunodeficiency syndrome, AIDS" EXACT [] +synonym: "AIDS" EXACT ABBREVIATION [DOID:635, NCIT:C2851] +synonym: "AIDS, acquired immunodeficiency syndrome" EXACT [] xref: DOID:635 {source="MONDO:equivalentTo", source="EFO:0000765"} xref: EFO:0000765 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:B20 {source="DOID:635"} @@ -278791,12 +278840,12 @@ subset: rare synonym: "3q subtelomere deletion syndrome" EXACT [DOID:0060419, Orphanet:65286] synonym: "3q29 deletion" RELATED [GARD:0011974] synonym: "3q29 deletion syndrome" RELATED [GARD:0011974] -synonym: "3q29 microdeletion syndrome" EXACT [DOID:0060419] +synonym: "3q29 microdeletion syndrome" EXACT [DOID:0060419, Orphanet:65286] synonym: "3qter deletion" EXACT [DOID:0060419, Orphanet:65286] -synonym: "chromosome 3q29 deletion syndrome" RELATED [OMIM:609425] -synonym: "chromosome 3q29 microdeletion syndrome, isolated cases" EXACT [OMIM:609425, OMIM:genemap2] +synonym: "chromosome 3q29 deletion syndrome" RELATED [] +synonym: "chromosome 3q29 microdeletion syndrome, isolated cases" EXACT [] synonym: "Del(3)(q29)" EXACT [Orphanet:65286] -synonym: "microdeletion 3Q29 syndrome" RELATED [OMIM:609425] +synonym: "microdeletion 3Q29 syndrome" RELATED [] synonym: "monosomy 3q29" EXACT [Orphanet:65286] synonym: "monosomy 3qter" EXACT [Orphanet:65286] xref: DECIPHER:37 {source="MONDO:equivalentTo"} @@ -278822,11 +278871,11 @@ name: Tukel syndrome subset: gard_rare {source="GARD:9814", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Cfeom-U" RELATED [OMIM:609428] +synonym: "Cfeom-U" RELATED [] synonym: "congenital extraocular muscle fibrosis with ulnar hand anomalies" RELATED [GARD:0009814] -synonym: "fibrosis of extraocular muscles, congenital, 4" RELATED [OMIM:609428] -synonym: "fibrosis of extraocular muscles, congenital, with ulnar hand anomalies" RELATED [OMIM:609428] -synonym: "Tukel syndrome" EXACT [OMIM:609428] +synonym: "fibrosis of extraocular muscles, congenital, 4" RELATED [] +synonym: "fibrosis of extraocular muscles, congenital, with ulnar hand anomalies" RELATED [] +synonym: "Tukel syndrome" EXACT [DOID:0081021, icd11.foundation:2132105652, OMIM:609428] xref: DOID:0081021 {source="MONDO:equivalentTo"} xref: GARD:9814 {source="MONDO:GARD"} xref: icd11.foundation:2132105652 {source="MONDO:equivalentTo"} @@ -278853,8 +278902,8 @@ synonym: "syndactyly Malik-Percin type" RELATED [GARD:0010590] synonym: "syndactyly mesoaxial synostotic with phalangeal reduction" RELATED [GARD:0010590] synonym: "syndactyly type 9" EXACT [Orphanet:157801] synonym: "syndactyly, Malik-Percin type" EXACT [OMIM:609432, Orphanet:157801] -synonym: "syndactyly, mesoaxial synostotic, with phalangeal reduction" RELATED [MONDO:Lexical, OMIM:609432] -synonym: "syndactyly, type 9" RELATED [OMIM:609432] +synonym: "syndactyly, mesoaxial synostotic, with phalangeal reduction" RELATED [MONDO:Lexical] +synonym: "syndactyly, type 9" RELATED [] xref: GARD:10590 {source="MONDO:GARD"} xref: ICD10CM:Q70.0 {source="Orphanet:157801", source="Orphanet:157801/attributed", source="Orphanet:157801/ntbt"} xref: ICD10CM:Q70.2 {source="Orphanet:157801", source="Orphanet:157801/attributed", source="Orphanet:157801/ntbt"} @@ -278872,8 +278921,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012272 name: intellectual disability, keratoconus, febrile seizures, and sinoatrial block -synonym: "intellectual disability, keratoconus, febrile seizures, and sinoatrial block" EXACT [OMIM:609438] -synonym: "mental retardation, keratoconus, febrile seizures, and sinoatrial block" RELATED DEPRECATED [OMIM:609438] +synonym: "intellectual disability, keratoconus, febrile seizures, and sinoatrial block" EXACT [] +synonym: "mental retardation, keratoconus, febrile seizures, and sinoatrial block" RELATED DEPRECATED [] xref: MEDGEN:324455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537452 {source="MONDO:equivalentTo"} xref: OMIM:609438 {source="MONDO:equivalentTo"} @@ -278888,15 +278937,15 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22612", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 48" NARROW [DOID:0110505] -synonym: "autosomal recessive nonsyndromic deafness 48" NARROW [OMIM:609439] +synonym: "autosomal recessive deafness 48" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 48" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CIB2" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 48" NARROW [DOID:0110505, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 48" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 48" EXACT CLINGEN_LABEL [] synonym: "CIB2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 48" NARROW [MONDO:Lexical, OMIM:609439, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 48" NARROW [MONDORULE:2, OMIM:609439] -synonym: "DFNB48" NARROW ABBREVIATION [DOID:0110505, MONDO:Lexical, OMIM:609439] +synonym: "deafness, autosomal recessive 48" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 48" NARROW [MONDORULE:2] +synonym: "DFNB48" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110505 {source="MONDO:equivalentTo"} xref: GARD:22612 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110505"} @@ -278918,9 +278967,9 @@ subset: gard_rare {source="GARD:10077", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acromesomelic dysplasia 3" EXACT [OMIM:609441, OMIM:genemap2] +synonym: "acromesomelic dysplasia 3" EXACT [OMIM:609441] synonym: "acromesomelic dysplasia, Demirhan type" EXACT [MONDO:Lexical, OMIM:609441] -synonym: "AMDD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609441] +synonym: "AMDD" EXACT ABBREVIATION [MONDO:Lexical] synonym: "chondrodysplasia acromesomelic with genital anomalies" RELATED [GARD:0010077] synonym: "chondrodysplasia, acromesomelic, with or without genital anomalies" EXACT [OMIM:609441] xref: DOID:0081237 {source="MONDO:equivalentTo"} @@ -278947,12 +278996,12 @@ subset: ordo_disorder {source="Orphanet:1906"} subset: ordo_malformation_syndrome {source="Orphanet:1906"} subset: orphanet_rare {source="Orphanet:1906"} subset: rare -synonym: "fetal valproate syndrome" EXACT [OMIM:609442] +synonym: "fetal valproate syndrome" EXACT [DOID:0060471, icd11.foundation:1055155432, NCIT:C98930, OMIM:609442, Orphanet:1906] synonym: "fetal valproic acid syndrome" EXACT [DOID:0060471, Orphanet:1906] -synonym: "foetal valproic acid syndrome" EXACT OMO:0003005 [] +synonym: "foetal valproic acid syndrome" EXACT OMO:0003005 [DOID:0060471] synonym: "FVS" RELATED ABBREVIATION [GARD:0005447] synonym: "susceptibility to valproate embryopathy" RELATED [GARD:0005447] -synonym: "valproate embryopathy, susceptibility to" RELATED [OMIM:609442] +synonym: "valproate embryopathy, susceptibility to" RELATED [] synonym: "valproic acid embryopathy" RELATED [GARD:0005447] xref: DOID:0060471 {source="MONDO:equivalentTo"} xref: GARD:5447 {source="MONDO:GARD"} @@ -278985,13 +279034,13 @@ subset: ordo_disorder {source="Orphanet:79137"} subset: orphanet_rare {source="Orphanet:79137"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epilepsy, generalized, with paroxysmal dyskinesia" RELATED [OMIM:609446] +synonym: "epilepsy, generalized, with paroxysmal dyskinesia" RELATED [] synonym: "generalised epilepsy and paroxysmal dyskinesia" RELATED OMO:0003005 [] -synonym: "generalized epilepsy and paroxysmal dyskinesia" RELATED [MONDO:Lexical, OMIM:609446] -synonym: "GEPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609446, Orphanet:79137] +synonym: "generalized epilepsy and paroxysmal dyskinesia" RELATED [MONDO:Lexical] +synonym: "GEPD" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:79137] synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy" RELATED OMO:0003005 [] -synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" RELATED [OMIM:609446] -synonym: "PNKD3" RELATED ABBREVIATION [OMIM:609446] +synonym: "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" RELATED [] +synonym: "PNKD3" RELATED ABBREVIATION [] xref: DOID:0070442 {source="MONDO:equivalentTo"} xref: GARD:16704 {source="MONDO:GARD"} xref: ICD10CM:G40.3 {source="Orphanet:79137/attributed", source="Orphanet:79137/ntbt", source="Orphanet:79137"} @@ -279014,13 +279063,13 @@ subset: ordo_disorder {source="Orphanet:98912"} subset: orphanet_rare {source="Orphanet:98912"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "late-onset distal myopathy, Markesbery-Griggs type" RELATED [Orphanet:98912] +synonym: "late-onset distal myopathy, Markesbery-Griggs type" RELATED [] synonym: "LDB3 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "MFM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609452] +synonym: "MFM4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "myofibrillar myopathy (disease) caused by mutation in LDB3" EXACT [] -synonym: "myofibrillar myopathy type 4" EXACT [DOID:0080095, MONDORULE:1] -synonym: "myopathy, myofibrillar, 4" RELATED [MONDO:Lexical, OMIM:609452] -synonym: "myopathy, myofibrillar, type 4" EXACT [MONDORULE:1, OMIM:609452] +synonym: "myofibrillar myopathy type 4" EXACT [MONDORULE:1] +synonym: "myopathy, myofibrillar, 4" RELATED [MONDO:Lexical] +synonym: "myopathy, myofibrillar, type 4" EXACT [MONDORULE:1] synonym: "ZASP-related myofibrillar myopathy" EXACT [Orphanet:98912] synonym: "zaspopathy" EXACT [DOID:0080095] xref: DOID:0080095 {source="MONDO:equivalentTo"} @@ -279076,8 +279125,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:66629"} subset: orphanet_rare {source="Orphanet:66629"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Goldberg-Shprintzen megacolon syndrome" EXACT [DOID:0060481, OMIM:609460] -synonym: "Goldberg-Shprintzen syndrome" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40020/, MONDO:Lexical, OMIM:609460] +synonym: "Goldberg-Shprintzen megacolon syndrome" EXACT [DOID:0060481, OMIM:609460, Orphanet:66629] +synonym: "Goldberg-Shprintzen syndrome" EXACT CLINGEN_LABEL [DOID:0060481, https://www.clinicalgenome.org/affiliation/40020/, MONDO:Lexical, OMIM:609460] synonym: "GOSHS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609460, Orphanet:66629] synonym: "megacolon-microcephaly syndrome" EXACT [Orphanet:66629] xref: DOID:0060481 {source="MONDO:equivalentTo"} @@ -279147,8 +279196,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10063/cleft- [Term] id: MONDO:0012284 name: nephropathy, progressive, with deafness -synonym: "Alport/focal segmental glomerulosclerosis-like syndrome" RELATED [OMIM:609469] -synonym: "Nede" RELATED [OMIM:609469] +synonym: "Alport/focal segmental glomerulosclerosis-like syndrome" RELATED [] +synonym: "Nede" RELATED [] synonym: "nephropathy, progressive, with deafness" EXACT [OMIM:609469] xref: MEDGEN:322828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563713 {source="MONDO:equivalentTo"} @@ -279189,10 +279238,10 @@ comment: Editor note: check this subset: gard_rare {source="GARD:15461", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "rhegmatogenous retinal detachment, autosomal dominant" RELATED [OMIM:609508] -synonym: "Stickler syndrome, atypical" RELATED [OMIM:609508] +synonym: "rhegmatogenous retinal detachment, autosomal dominant" RELATED [] +synonym: "Stickler syndrome, atypical" RELATED [] synonym: "Stickler syndrome, type i, nonsyndromic ocular" EXACT [OMIM:609508] -synonym: "Stickler syndrome, type I, predominantly ocular" RELATED [OMIM:609508] +synonym: "Stickler syndrome, type I, predominantly ocular" RELATED [] xref: GARD:15461 {source="MONDO:GARD"} xref: MEDGEN:322820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563709 {source="MONDO:equivalentTo"} @@ -279228,16 +279277,16 @@ subset: orphanet_rare {source="Orphanet:171445"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "filaminopathy" EXACT [DOID:0080096] -synonym: "filaminopathy, autosomal dominant" RELATED [OMIM:609524] +synonym: "filaminopathy, autosomal dominant" RELATED [] synonym: "FLNC myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "MFM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609524] -synonym: "muscle filaminopathy" RELATED [Orphanet:171445] +synonym: "MFM5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "muscle filaminopathy" RELATED [] synonym: "myofibrillar myopathy (disease) caused by mutation in FLNC" EXACT [] -synonym: "myofibrillar myopathy 5" EXACT CLINGEN_LABEL [] -synonym: "myofibrillar myopathy type 5" EXACT [DOID:0080096, MONDORULE:1] -synonym: "myopathy, myofibrillar, 5" RELATED [MONDO:Lexical, OMIM:609524] -synonym: "myopathy, myofibrillar, filamin C-related" RELATED [OMIM:609524] -synonym: "myopathy, myofibrillar, type 5" EXACT [MONDORULE:1, OMIM:609524] +synonym: "myofibrillar myopathy 5" EXACT CLINGEN_LABEL [DOID:0080096] +synonym: "myofibrillar myopathy type 5" EXACT [MONDORULE:1] +synonym: "myopathy, myofibrillar, 5" RELATED [MONDO:Lexical] +synonym: "myopathy, myofibrillar, filamin C-related" RELATED [] +synonym: "myopathy, myofibrillar, type 5" EXACT [MONDORULE:1] xref: DOID:0080096 {source="MONDO:equivalentTo"} xref: GARD:17062 {source="MONDO:GARD"} xref: ICD10CM:G71.8 {source="Orphanet:171445/attributed", source="Orphanet:171445/ntbt", source="Orphanet:171445"} @@ -279264,9 +279313,9 @@ subset: ordo_disorder {source="Orphanet:66631"} subset: orphanet_rare {source="Orphanet:66631"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CEDNIK syndrome" EXACT CLINGEN_LABEL [OMIM:609528] -synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT [DOID:0060337, OMIM:609528] -synonym: "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" RELATED [OMIM:609528] +synonym: "CEDNIK syndrome" EXACT CLINGEN_LABEL [DOID:0060337, OMIM:609528, Orphanet:66631] +synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT [DOID:0060337] +synonym: "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" RELATED [] synonym: "cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome" EXACT [Orphanet:66631] xref: DOID:0060337 {source="MONDO:equivalentTo"} xref: GARD:9940 {source="MONDO:GARD"} @@ -279292,13 +279341,13 @@ subset: gard_rare {source="GARD:10198", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "IgA, selective deficiency of, TACI related" RELATED [GARD:0010198] -synonym: "IgA, selective deficiency of, TACI-related" RELATED [OMIM:609529] -synonym: "IGAD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609529] -synonym: "IMMUNOGLOBULIN A deficiency 2" RELATED [OMIM:609529] +synonym: "IgA, selective deficiency of, TACI-related" RELATED [] +synonym: "IGAD2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "IMMUNOGLOBULIN A deficiency 2" RELATED [] synonym: "immunoglobulin a deficiency 2" EXACT [MONDO:Lexical, OMIM:609529] -synonym: "Immunoglobulin a deficiency type 2" EXACT [MONDORULE:1, OMIM:609529] +synonym: "Immunoglobulin a deficiency type 2" EXACT [MONDORULE:1] synonym: "Immunoglobulin A, selective deficiency of, TACI related" RELATED [GARD:0010198] -synonym: "Immunoglobulin A, selective deficiency of, TACI-related" RELATED [OMIM:609529] +synonym: "Immunoglobulin A, selective deficiency of, TACI-related" RELATED [] synonym: "selective IgA deficiency disease caused by mutation in TNFRSF13B" EXACT [MONDO:design_pattern] synonym: "TNFRSF13B selective IgA deficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:10198 {source="MONDO:GARD"} @@ -279318,11 +279367,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10198/immuno id: MONDO:0012292 name: hepatitis C virus, susceptibility to subset: predisposition -synonym: "HCV, resistance to" RELATED [OMIM:609532] -synonym: "HCV, susceptibility to" RELATED [OMIM:609532] -synonym: "Hepatitis C Virus infection, response to therapy of" RELATED [OMIM:609532] -synonym: "Hepatitis C Virus, resistance to" RELATED [OMIM:609532] -synonym: "hepatitis C virus, response to therapy of" EXACT [OMIM:609532, OMIM:genemap2] +synonym: "HCV, resistance to" RELATED [] +synonym: "HCV, susceptibility to" RELATED [] +synonym: "Hepatitis C Virus infection, response to therapy of" RELATED [] +synonym: "Hepatitis C Virus, resistance to" RELATED [] +synonym: "hepatitis C virus, response to therapy of" EXACT [] synonym: "hepatitis C virus, susceptibility to" EXACT [OMIM:609532] xref: MEDGEN:322657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609532 {source="MONDO:equivalentTo"} @@ -279342,13 +279391,13 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22613", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 23" NARROW [DOID:0110481] -synonym: "autosomal recessive nonsyndromic deafness 23" NARROW [OMIM:609533] +synonym: "autosomal recessive deafness 23" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 23" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PCDH15" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 23" NARROW [DOID:0110481, MONDORULE:2] -synonym: "deafness, autosomal recessive 23" NARROW [MONDO:Lexical, OMIM:609533, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 23" NARROW [MONDORULE:2, OMIM:609533] -synonym: "DFNB23" NARROW ABBREVIATION [DOID:0110481, MONDO:Lexical, OMIM:609533] +synonym: "autosomal recessive nonsyndromic deafness type 23" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 23" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 23" NARROW [MONDORULE:2] +synonym: "DFNB23" NARROW ABBREVIATION [MONDO:Lexical] synonym: "PCDH15 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110481 {source="MONDO:equivalentTo"} xref: GARD:22613 {source="MONDO:GARD"} @@ -279368,16 +279417,16 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012294 name: obsolete drug metabolism, poor, Cyp2C19-related -synonym: "clopidogrel, impaired responsiveness to" EXACT [OMIM:609535, OMIM:genemap2] -synonym: "clopidogrel, poor metabolism of" RELATED [OMIM:609535] -synonym: "drug metabolism, poor, Cyp2C19-related" EXACT [OMIM:609535] -synonym: "mephenytoin poor metabolizer" EXACT [OMIM:609535, OMIM:genemap2] -synonym: "Mephenytoin, poor metabolism of" RELATED [OMIM:609535] -synonym: "omeprazole poor metabolizer" EXACT [OMIM:609535, OMIM:genemap2] -synonym: "Omeprazole, poor metabolism of" RELATED [OMIM:609535] -synonym: "Opremazole, poor metabolism of" RELATED [OMIM:609535] -synonym: "proguanil poor metabolizer" EXACT [OMIM:609535, OMIM:genemap2] -synonym: "Proguanil, poor metabolism of" RELATED [OMIM:609535] +synonym: "clopidogrel, impaired responsiveness to" EXACT [] +synonym: "clopidogrel, poor metabolism of" RELATED [] +synonym: "drug metabolism, poor, Cyp2C19-related" EXACT [] +synonym: "mephenytoin poor metabolizer" EXACT [] +synonym: "Mephenytoin, poor metabolism of" RELATED [] +synonym: "omeprazole poor metabolizer" EXACT [] +synonym: "Omeprazole, poor metabolism of" RELATED [] +synonym: "Opremazole, poor metabolism of" RELATED [] +synonym: "proguanil poor metabolizer" EXACT [] +synonym: "Proguanil, poor metabolism of" RELATED [] xref: OMIM:609535 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:240935 {source="OMIM:609535"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -279390,9 +279439,9 @@ def: "A rare genetic disorder with an autosomal recessive pattern of inheritance subset: gard_rare {source="GARD:2191", source="MONDO:GARD"} subset: rare synonym: "C5 complement deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "C5 deficiency" EXACT [DOID:8158, OMIM:609536] -synonym: "C5D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609536] -synonym: "complement component 5 deficiency" EXACT [MONDO:Lexical, OMIM:609536] +synonym: "C5 deficiency" EXACT [DOID:8158, NCIT:C9469, OMIM:609536] +synonym: "C5D" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "complement component 5 deficiency" EXACT [DOID:8158, MONDO:Lexical, OMIM:609536] synonym: "complement deficiency caused by mutation in C5" EXACT [MONDO:design_pattern] synonym: "dysfunction of the fifth component of complement (C5)" RELATED [GARD:0006878] xref: DOID:8158 {source="MONDO:equivalentTo"} @@ -279420,7 +279469,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:268835"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial lipomyelomeningocele" RELATED [GARD:0010053] -synonym: "lipomyelomeningocele" EXACT [OMIM:609537] +synonym: "lipomyelomeningocele" EXACT [icd11.foundation:1919145296, OMIM:609537] xref: GARD:10053 {source="MONDO:GARD"} xref: ICD10CM:Q05.9 {source="Orphanet:268835", source="Orphanet:268835/attributed", source="Orphanet:268835/ntbt"} xref: icd11.foundation:1919145296 {source="MONDO:equivalentTo"} @@ -279450,7 +279499,7 @@ subset: rare synonym: "spastic paraplegia, optic atropy, and neuropathy syndrome" EXACT [DOID:0060491] synonym: "spastic paraplegia-optic atrophy-neuropathy syndrome" EXACT [Orphanet:320406] synonym: "SPOAN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609541, Orphanet:320406] -synonym: "SPOAN syndrome" EXACT [MONDO:0012297] +synonym: "SPOAN syndrome" EXACT [DOID:0060491, MONDO:0012297] xref: DOID:0060491 {source="MONDO:equivalentTo"} xref: GARD:17479 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="Orphanet:320406", source="Orphanet:320406/attributed", source="Orphanet:320406/ntbt", source="DOID:0060491"} @@ -279470,7 +279519,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012298 name: omphalocele, diaphragmatic hernia, and radial ray defects -synonym: "Gershoni-Baruch syndrome" RELATED [OMIM:609545] +synonym: "Gershoni-Baruch syndrome" RELATED [] synonym: "omphalocele, diaphragmatic hernia, and radial ray defects" EXACT [OMIM:609545] xref: MEDGEN:332105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563701 {source="MONDO:equivalentTo"} @@ -279486,12 +279535,12 @@ subset: gard_rare {source="GARD:18626", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "MFRP nanophthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Nanophthalmia 2" RELATED [OMIM:609549] +synonym: "Nanophthalmia 2" RELATED [] synonym: "nanophthalmia caused by mutation in MFRP" EXACT [MONDO:design_pattern] synonym: "nanophthalmos 2" EXACT [MONDO:Lexical, OMIM:609549] -synonym: "nanophthalmos type 2" EXACT [MONDORULE:1, OMIM:609549] -synonym: "nanophthalmos, autosomal recessive" RELATED [OMIM:609549] -synonym: "NNO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609549] +synonym: "nanophthalmos type 2" EXACT [MONDORULE:1] +synonym: "nanophthalmos, autosomal recessive" RELATED [] +synonym: "NNO2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18626 {source="MONDO:GARD"} xref: MEDGEN:372177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563700 {source="MONDO:equivalentTo"} @@ -279509,10 +279558,10 @@ id: MONDO:0012300 name: prostate cancer, hereditary, 6 subset: gard_rare {source="GARD:15462", source="MONDO:GARD"} subset: rare -synonym: "HPC6" RELATED ABBREVIATION [OMIM:609558] +synonym: "HPC6" RELATED ABBREVIATION [] synonym: "prostate cancer, hereditary, 6" EXACT [OMIM:609558] -synonym: "prostate cancer, hereditary, type 6" EXACT [MONDORULE:1, OMIM:609558] -synonym: "prostate cancer, susceptibility to" RELATED [OMIM:609558, OMIM:genemap2] +synonym: "prostate cancer, hereditary, type 6" EXACT [MONDORULE:1] +synonym: "prostate cancer, susceptibility to" RELATED [] xref: GARD:15462 {source="MONDO:GARD"} xref: MEDGEN:322797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563699 {source="MONDO:equivalentTo"} @@ -279532,12 +279581,12 @@ subset: ordo_disorder {source="Orphanet:254875"} subset: orphanet_rare {source="Orphanet:254875"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mitochondrial DNA depletion myopathy, Tk2-related" RELATED [OMIM:609560] -synonym: "mitochondrial DNA depletion syndrome 2" RELATED [DOID:0080120] -synonym: "mitochondrial DNA depletion syndrome 2 (myopathic type)" RELATED [MONDO:Lexical, OMIM:609560] -synonym: "mitochondrial DNA depletion syndrome type 2" EXACT [DOID:0080120, MONDORULE:1] +synonym: "mitochondrial DNA depletion myopathy, Tk2-related" RELATED [] +synonym: "mitochondrial DNA depletion syndrome 2" RELATED [] +synonym: "mitochondrial DNA depletion syndrome 2 (myopathic type)" RELATED [MONDO:Lexical] +synonym: "mitochondrial DNA depletion syndrome type 2" EXACT [MONDORULE:1] synonym: "mtDNA depletion syndrome, myopathic form" EXACT [Orphanet:254875] -synonym: "MTDPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609560] +synonym: "MTDPS2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080120 {source="MONDO:equivalentTo"} xref: GARD:17228 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:254875", source="Orphanet:254875/attributed", source="Orphanet:254875/ntbt"} @@ -279573,10 +279622,10 @@ is_a: MONDO:0018953 {source="DC-OMIM:609566", source="OMIM:609566"} ! parietal f id: MONDO:0012303 name: migraine with or without aura, susceptibility to, 8 subset: predisposition -synonym: "Mgr8" RELATED [OMIM:609570] +synonym: "Mgr8" RELATED [] synonym: "migraine with or without aura, susceptibility to, 8" EXACT [OMIM:609570] -synonym: "migraine with or without aura, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:609570] -synonym: "migraine, susceptibility to, 8" EXACT [OMIM:609570, OMIM:genemap2] +synonym: "migraine with or without aura, susceptibility to, type 8" EXACT [MONDORULE:1] +synonym: "migraine, susceptibility to, 8" EXACT [] xref: MEDGEN:332101 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609570 {source="MONDO:equivalentTo"} xref: UMLS:C1835968 {source="MEDGEN:332101", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -279590,7 +279639,7 @@ subset: gard_rare {source="GARD:15463", source="MONDO:GARD"} subset: rare synonym: "photoparoxysmal response 2" EXACT [MONDO:Lexical, OMIM:609572] synonym: "photoparoxysmal response with or without idiopathic generalised epilepsy" RELATED OMO:0003005 [] -synonym: "photoparoxysmal response with or without idiopathic generalized epilepsy" RELATED [OMIM:609572] +synonym: "photoparoxysmal response with or without idiopathic generalized epilepsy" RELATED [] synonym: "PPR2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609572] xref: GARD:15463 {source="MONDO:GARD"} xref: MEDGEN:324401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -279605,7 +279654,7 @@ name: photoparoxysmal response 3 subset: gard_rare {source="GARD:15464", source="MONDO:GARD"} subset: rare synonym: "photoparoxysmal response 3" EXACT [MONDO:Lexical, OMIM:609573] -synonym: "photoparoxysmal response with or without myoclonic epilepsy" RELATED [OMIM:609573] +synonym: "photoparoxysmal response with or without myoclonic epilepsy" RELATED [] synonym: "PPR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609573] xref: GARD:15464 {source="MONDO:GARD"} xref: MEDGEN:372169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -279622,7 +279671,7 @@ subset: gard_rare {source="GARD:18071", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy, familial restrictive, 2" EXACT [MONDO:Lexical, OMIM:609578] -synonym: "RCM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609578] +synonym: "RCM2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111426 {source="MONDO:equivalentTo"} xref: GARD:18071 {source="MONDO:GARD"} xref: MEDGEN:400673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -279643,8 +279692,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:168624"} subset: orphanet_rare {source="Orphanet:168624"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "scaphocephaly, maxillary retrusion, and intellectual disability" RELATED [OMIM:609579] -synonym: "scaphocephaly, maxillary retrusion, and mental retardation" RELATED DEPRECATED [OMIM:609579] +synonym: "scaphocephaly, maxillary retrusion, and intellectual disability" RELATED [] +synonym: "scaphocephaly, maxillary retrusion, and mental retardation" RELATED DEPRECATED [] synonym: "scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome" EXACT [Orphanet:168624] xref: GARD:3426 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:168624", source="Orphanet:168624/attributed", source="Orphanet:168624/ntbt"} @@ -279668,10 +279717,10 @@ subset: orphanet_rare {source="Orphanet:220497"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "JBTS4" EXACT ABBREVIATION [DOID:0110999, GARD:0010169, MONDO:Lexical, OMIM:609583] -synonym: "Joubert syndrome 4" RELATED [GARD:0010169, MONDO:Lexical, OMIM:609583] -synonym: "Joubert syndrome type 4" EXACT [DOID:0110999, MONDORULE:1, OMIM:609583] +synonym: "Joubert syndrome 4" RELATED [GARD:0010169, MONDO:Lexical] +synonym: "Joubert syndrome type 4" EXACT [MONDORULE:1] synonym: "Joubert syndrome with renal anomalies" RELATED [GARD:0010169] -synonym: "JS-R" EXACT [Orphanet:220497] +synonym: "JS-R" EXACT ABBREVIATION [Orphanet:220497] xref: DOID:0110999 {source="MONDO:equivalentTo"} xref: GARD:10169 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:220497/attributed", source="Orphanet:220497/ntbt", source="Orphanet:220497"} @@ -279701,8 +279750,8 @@ subset: rare synonym: "ALX4 parietal foramina" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "parietal foramina 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609597] synonym: "parietal foramina caused by mutation in ALX4" EXACT [MONDO:design_pattern] -synonym: "parietal foramina type 2" EXACT [MONDORULE:1, OMIM:609597] -synonym: "PFM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609597] +synonym: "parietal foramina type 2" EXACT [MONDORULE:1] +synonym: "PFM2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18053 {source="MONDO:GARD"} xref: MEDGEN:355358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566510 {source="MONDO:equivalentTo"} @@ -279720,9 +279769,9 @@ name: fibrosis of extraocular muscles, congenital, with synergistic divergence subset: gard_rare {source="GARD:15466", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "congenital fibrosis syndrome with synergistic divergence" RELATED [OMIM:609612] -synonym: "external ophthalmoplegia with synergistic divergence" RELATED [OMIM:609612] -synonym: "external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation" RELATED [OMIM:609612] +synonym: "congenital fibrosis syndrome with synergistic divergence" RELATED [] +synonym: "external ophthalmoplegia with synergistic divergence" RELATED [] +synonym: "external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation" RELATED [] synonym: "fibrosis of extraocular muscles, congenital, with synergistic divergence" EXACT [OMIM:609612] xref: GARD:15466 {source="MONDO:GARD"} xref: MEDGEN:351285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -279749,11 +279798,11 @@ def: "Any short QT syndrome in which the cause of the disease is a mutation in t subset: gard_rare {source="GARD:18633", source="MONDO:GARD"} subset: rare synonym: "KCNH2 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "short QT syndrome 1" RELATED [MONDO:Lexical, OMIM:609620] +synonym: "short QT syndrome 1" RELATED [MONDO:Lexical] synonym: "short QT syndrome caused by mutation in KCNH2" EXACT [MONDO:design_pattern] -synonym: "short QT syndrome type 1" EXACT [MONDORULE:1, OMIM:609620] -synonym: "SQT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609620] -synonym: "SQTS" EXACT ABBREVIATION [Orphanet:51083] +synonym: "short QT syndrome type 1" EXACT [MONDORULE:1] +synonym: "SQT1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "SQTS" EXACT ABBREVIATION [] xref: GARD:18633 {source="MONDO:GARD"} xref: MEDGEN:355891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566506 {source="MONDO:equivalentTo"} @@ -279771,10 +279820,10 @@ def: "Any short QT syndrome in which the cause of the disease is a mutation in t subset: gard_rare {source="GARD:18634", source="MONDO:GARD"} subset: rare synonym: "KCNQ1 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "short QT syndrome 2" RELATED [MONDO:Lexical, OMIM:609621] +synonym: "short QT syndrome 2" RELATED [MONDO:Lexical] synonym: "short QT syndrome caused by mutation in KCNQ1" EXACT [MONDO:design_pattern] -synonym: "short QT syndrome type 2" EXACT [MONDORULE:1, OMIM:609621] -synonym: "SQT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609621] +synonym: "short QT syndrome type 2" EXACT [MONDORULE:1] +synonym: "SQT2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18634 {source="MONDO:GARD"} xref: MEDGEN:355890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566505 {source="MONDO:equivalentTo"} @@ -279792,10 +279841,10 @@ def: "Any short QT syndrome in which the cause of the disease is a mutation in t subset: gard_rare {source="GARD:18635", source="MONDO:GARD"} subset: rare synonym: "KCNJ2 short QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "short QT syndrome 3" RELATED [MONDO:Lexical, OMIM:609622] +synonym: "short QT syndrome 3" RELATED [MONDO:Lexical] synonym: "short QT syndrome caused by mutation in KCNJ2" EXACT [MONDO:design_pattern] -synonym: "short QT syndrome type 3" EXACT [MONDORULE:1, OMIM:609622] -synonym: "SQT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609622] +synonym: "short QT syndrome type 3" EXACT [MONDORULE:1] +synonym: "SQT3" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18635 {source="MONDO:GARD"} xref: MEDGEN:400662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566504 {source="MONDO:equivalentTo"} @@ -279823,14 +279872,14 @@ synonym: "chromosome 10q deletion" RELATED [GARD:0003711] synonym: "chromosome 10q26 deletion syndrome" EXACT [DOID:0060390, OMIM:609625] synonym: "deletion 10q" RELATED [GARD:0003711] synonym: "distal deletion 10q" EXACT [Orphanet:96148] -synonym: "distal monosomy 10q" EXACT [DOID:0060390] -synonym: "distal monosomy type 10q" EXACT [MONDORULE:4, Orphanet:96148] +synonym: "distal monosomy 10q" EXACT [DOID:0060390, Orphanet:96148] +synonym: "distal monosomy type 10q" EXACT [MONDORULE:4] synonym: "monosomy 10q" RELATED [GARD:0003711] synonym: "monosomy 10qter" EXACT [DOID:0060390, Orphanet:96148] synonym: "partial monosomy 10q" RELATED [GARD:0003711] synonym: "telomeric deletion 10q" EXACT [DOID:0060390, Orphanet:96148] -synonym: "terminal chromosome 10Q26 deletion syndrome" RELATED [OMIM:609625] -synonym: "terminal chromosome 10q26 deletion syndrome" EXACT [DOID:0060390] +synonym: "terminal chromosome 10Q26 deletion syndrome" RELATED [] +synonym: "terminal chromosome 10q26 deletion syndrome" EXACT [DOID:0060390, OMIM:609625] xref: DOID:0060390 {source="MONDO:equivalentTo"} xref: GARD:3711 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:96148/attributed", source="Orphanet:96148/ntbt", source="Orphanet:96148", source="DOID:0060390"} @@ -279858,14 +279907,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CDA and CRMO" RELATED [GARD:0010088] synonym: "chronic recurrent multifocal osteomyelitis, congenital" RELATED [GARD:0010088] -synonym: "chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis" RELATED [OMIM:609628] +synonym: "chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis" RELATED [] synonym: "chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome" EXACT [Orphanet:77297] synonym: "congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis" RELATED OMO:0003005 [] synonym: "congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis" RELATED [GARD:0010088] synonym: "dyserythropoietic anemia, and neutrophilic dermatosis" RELATED [GARD:0010088] -synonym: "MAJEED syndrome" RELATED [OMIM:609628] -synonym: "Majeed syndrome" EXACT CLINGEN_LABEL [OMIM:609628] -synonym: "MJDS" RELATED ABBREVIATION [OMIM:609628] +synonym: "MAJEED syndrome" RELATED [] +synonym: "Majeed syndrome" EXACT CLINGEN_LABEL [icd11.foundation:1316564349, NCIT:C119058, OMIM:609628, Orphanet:77297] +synonym: "MJDS" RELATED ABBREVIATION [] xref: GARD:10088 {source="MONDO:GARD"} xref: icd11.foundation:1316564349 {source="MONDO:equivalentTo"} xref: ICD9:759.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -279896,10 +279945,10 @@ name: visceral neuropathy, familial, 3, autosomal dominant subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "enteric neuropathy, familial" RELATED [OMIM:609629] -synonym: "pseudoobstruction, chronic intestinal, neuropathic" RELATED [OMIM:609629] -synonym: "pseudoobstruction, idiopathic intestinal" RELATED [OMIM:609629] -synonym: "visceral neuropathy, familial, autosomal dominant" EXACT [OMIM:609629] +synonym: "enteric neuropathy, familial" RELATED [] +synonym: "pseudoobstruction, chronic intestinal, neuropathic" RELATED [] +synonym: "pseudoobstruction, idiopathic intestinal" RELATED [] +synonym: "visceral neuropathy, familial, autosomal dominant" EXACT [] xref: DOID:0080682 {source="MONDO:equivalentTo"} xref: MEDGEN:351272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609629 {source="MONDO:equivalentTo"} @@ -279913,9 +279962,9 @@ name: leukemia, chronic lymphocytic, susceptibility to, 1 subset: inferred_rare subset: predisposition subset: rare -synonym: "Clls1" RELATED [OMIM:609630] +synonym: "Clls1" RELATED [] synonym: "leukemia, chronic lymphocytic, susceptibility to, 1" EXACT [OMIM:609630] -synonym: "leukemia, chronic lymphocytic, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:609630] +synonym: "leukemia, chronic lymphocytic, susceptibility to, type 1" EXACT [MONDORULE:1] xref: MEDGEN:351271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609630 {source="MONDO:equivalentTo"} xref: Orphanet:67038 {source="OMIM:609630"} @@ -279926,11 +279975,11 @@ relationship: predisposes_towards MONDO:0004948 {source="https://orcid.org/0000- [Term] id: MONDO:0012319 name: major affective disorder 3 -synonym: "bipolar affective disorder, early-onset" RELATED [OMIM:609633] +synonym: "bipolar affective disorder, early-onset" RELATED [] synonym: "MAFD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609633] -synonym: "MAJOR affective disorder 3" RELATED [OMIM:609633] +synonym: "MAJOR affective disorder 3" RELATED [] synonym: "major affective disorder 3" EXACT [OMIM:609633] -synonym: "major affective disorder 3, early onset" EXACT [OMIM:609633, OMIM:genemap2] +synonym: "major affective disorder 3, early onset" EXACT [] xref: MEDGEN:351270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566501 {source="MONDO:equivalentTo"} xref: OMIM:609633 {source="MONDO:equivalentTo"} @@ -279948,9 +279997,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial or sporadic hemiplegic migraine caused by mutation in SCN1A" EXACT [MONDO:design_pattern] -synonym: "FHM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609634] +synonym: "FHM3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "migraine, familial hemiplegic, 3" EXACT [MONDO:Lexical, OMIM:609634] -synonym: "migraine, familial hemiplegic, type 3" EXACT [MONDORULE:1, OMIM:609634] +synonym: "migraine, familial hemiplegic, type 3" EXACT [MONDORULE:1] synonym: "SCN1A familial or sporadic hemiplegic migraine" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111183 {source="MONDO:equivalentTo"} xref: GARD:10974 {source="MONDO:GARD"} @@ -279970,15 +280019,15 @@ name: Alzheimer disease 10 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36." [DOID:0110043, PMID:16175510] subset: gard_rare {source="GARD:16514", source="MONDO:GARD"} subset: rare -synonym: "AD10" EXACT ABBREVIATION [DOID:0110043] -synonym: "Ad10" RELATED [OMIM:609636] +synonym: "AD10" EXACT ABBREVIATION [DOID:0110043, OMIM:609636] +synonym: "Ad10" RELATED [] synonym: "Alzheimer disease 10" EXACT [DOID:0110043, OMIM:609636] synonym: "Alzheimer disease familial 10" EXACT [DOID:0110043] -synonym: "Alzheimer disease type 10" EXACT [MONDORULE:2, OMIM:609636] -synonym: "Alzheimer disease, familial, 10" RELATED [OMIM:609636] -synonym: "Alzheimer disease-10" EXACT [OMIM:609636, OMIM:genemap2] -synonym: "Alzheimer's disease 10" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 10" EXACT [DOID:0110043, MONDORULE:2] +synonym: "Alzheimer disease type 10" EXACT [MONDORULE:2] +synonym: "Alzheimer disease, familial, 10" RELATED [] +synonym: "Alzheimer disease-10" EXACT [] +synonym: "Alzheimer's disease 10" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110043, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 10" EXACT [MONDORULE:2] xref: DOID:0110043 {source="MONDO:equivalentTo"} xref: GARD:16514 {source="MONDO:GARD"} xref: ICD10CM:G30 {source="DOID:0110043"} @@ -279998,9 +280047,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "holoprosencephaly 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609637] +synonym: "holoprosencephaly 5" EXACT CLINGEN_LABEL [DOID:0110878, MONDO:Lexical, NCIT:C75460, OMIM:609637] synonym: "holoprosencephaly caused by mutation in ZIC2" EXACT [MONDO:design_pattern] -synonym: "holoprosencephaly type 5" EXACT [DOID:0110878, MONDORULE:1, OMIM:609637] +synonym: "holoprosencephaly type 5" EXACT [MONDORULE:1, NCIT:C75460] synonym: "HPE5" EXACT ABBREVIATION [DOID:0110878, MONDO:Lexical, OMIM:609637] synonym: "ZIC2 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110878 {source="MONDO:equivalentTo"} @@ -280028,9 +280077,9 @@ subset: ordo_disorder {source="Orphanet:158687"} subset: orphanet_rare {source="Orphanet:158687"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EBLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609638] -synonym: "epidermolysis bullosa, lethal acantholytic" RELATED [MONDO:Lexical, OMIM:609638] -synonym: "LAEB" EXACT ABBREVIATION [Orphanet:158687] +synonym: "EBLA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "epidermolysis bullosa, lethal acantholytic" RELATED [MONDO:Lexical] +synonym: "LAEB" EXACT ABBREVIATION [] synonym: "lethal acantholytic epidermolysis bullosa" EXACT [OMIM:609638] xref: GARD:9910 {source="MONDO:GARD"} xref: ICD10CM:Q81.0 {source="Orphanet:158687", source="Orphanet:158687/attributed", source="Orphanet:158687/ntbt"} @@ -280056,10 +280105,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "14q22-q23 microdeletion syndrome" EXACT [Orphanet:264200] synonym: "14q22q23 microdeletion syndrome" EXACT [Orphanet:264200] -synonym: "chromosome 14Q22 deletion syndrome" RELATED [OMIM:609640] +synonym: "chromosome 14Q22 deletion syndrome" RELATED [] synonym: "Del(14)(q22q23)" EXACT [Orphanet:264200] synonym: "Frias syndrome" EXACT [GARD:0002384, OMIM:609640] -synonym: "Growth deficiency, Facial anomalies, and brachydactyly" RELATED [OMIM:609640] +synonym: "Growth deficiency, Facial anomalies, and brachydactyly" RELATED [] synonym: "monosomy 14q22-q23" EXACT [Orphanet:264200] synonym: "monosomy 14q22q23" EXACT [Orphanet:264200] xref: GARD:2384 {source="MONDO:GARD"} @@ -280081,7 +280130,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012325 name: Nguyen syndrome synonym: "MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia" RELATED [GARD:0009754] -synonym: "MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia" RELATED [OMIM:609643] +synonym: "MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia" RELATED [] synonym: "Nguyen syndrome" EXACT [OMIM:609643] xref: MEDGEN:400620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536115 {source="MONDO:equivalentTo"} @@ -280097,14 +280146,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22614", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 42" NARROW [DOID:0110500] -synonym: "autosomal recessive nonsyndromic deafness 42" NARROW [OMIM:609646] +synonym: "autosomal recessive deafness 42" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 42" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ILDR1" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 42" NARROW [DOID:0110500, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 42" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 42" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 42" NARROW [MONDO:Lexical, OMIM:609646, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 42" NARROW [MONDORULE:2, OMIM:609646] -synonym: "DFNB42" NARROW ABBREVIATION [DOID:0110500, MONDO:Lexical, OMIM:609646] +synonym: "deafness, autosomal recessive 42" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 42" NARROW [MONDORULE:2] +synonym: "DFNB42" NARROW ABBREVIATION [MONDO:Lexical] synonym: "ILDR1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110500 {source="MONDO:equivalentTo"} xref: GARD:22614 {source="MONDO:GARD"} @@ -280127,11 +280176,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22615", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 46" NARROW [DOID:0110503] -synonym: "autosomal recessive nonsyndromic deafness 46" NARROW [OMIM:609647] -synonym: "autosomal recessive nonsyndromic deafness type 46" NARROW [DOID:0110503, MONDORULE:2] -synonym: "deafness, autosomal recessive 46" NARROW [MONDO:Lexical, OMIM:609647, OMIM:genemap2] -synonym: "DFNB46" NARROW ABBREVIATION [DOID:0110503, MONDO:Lexical, OMIM:609647] +synonym: "autosomal recessive deafness 46" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 46" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 46" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 46" NARROW [MONDO:Lexical] +synonym: "DFNB46" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110503 {source="MONDO:equivalentTo"} xref: GARD:22615 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110503"} @@ -280147,10 +280196,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012328 name: trichilemmal cyst subset: otar {source="MONDO:OTAR"} -synonym: "Pilar cyst" RELATED [OMIM:609649] -synonym: "trichilemmal cyst 1" RELATED [MONDO:Lexical, OMIM:609649] -synonym: "Tricholemmal cyst" RELATED [OMIM:609649] -synonym: "TRICY1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609649] +synonym: "Pilar cyst" RELATED [] +synonym: "trichilemmal cyst 1" RELATED [MONDO:Lexical] +synonym: "Tricholemmal cyst" RELATED [] +synonym: "TRICY1" RELATED ABBREVIATION [MONDO:Lexical] xref: icd11.foundation:150930710 {source="MONDO:equivalentTo"} xref: MEDGEN:389216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609649 {source="MONDO:equivalentTo"} @@ -280179,7 +280228,7 @@ subset: orphanet_rare {source="Orphanet:50809"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "singh-Williams-McAlister syndrome" EXACT [Orphanet:50809] -synonym: "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals" RELATED [OMIM:609655] +synonym: "talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals" RELATED [] xref: GARD:10061 {source="MONDO:GARD"} xref: icd11.foundation:1276091756 {source="MONDO:equivalentTo"} xref: MEDGEN:400611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -280193,9 +280242,9 @@ is_a: MONDO:0019707 {source="Orphanet:50809"} ! primary osteolysis id: MONDO:0012331 name: migraine with aura, susceptibility to, 9 subset: predisposition -synonym: "Mgr9" RELATED [OMIM:609670] +synonym: "Mgr9" RELATED [] synonym: "migraine with aura, susceptibility to, 9" EXACT [OMIM:609670] -synonym: "migraine with aura, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:609670] +synonym: "migraine with aura, susceptibility to, type 9" EXACT [MONDORULE:1] xref: MEDGEN:400609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609670 {source="MONDO:equivalentTo"} xref: UMLS:C1864772 {source="MEDGEN:400609", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -280216,14 +280265,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22616", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 53" NARROW [DOID:0110509] -synonym: "autosomal recessive nonsyndromic deafness 53" NARROW [OMIM:609706] +synonym: "autosomal recessive deafness 53" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 53" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in COL11A2" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 53" NARROW [DOID:0110509, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 53" NARROW [MONDORULE:2] synonym: "COL11A2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 53" NARROW [MONDO:Lexical, OMIM:609706, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 53" NARROW [MONDORULE:2, OMIM:609706] -synonym: "DFNB53" NARROW ABBREVIATION [DOID:0110509, MONDO:Lexical, OMIM:609706] +synonym: "deafness, autosomal recessive 53" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 53" NARROW [MONDORULE:2] +synonym: "DFNB53" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110509 {source="MONDO:equivalentTo"} xref: GARD:22616 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110509"} @@ -280248,10 +280297,10 @@ subset: orphanet_rare {source="Orphanet:101009"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 29" EXACT [DOID:0110780] -synonym: "autosomal dominant spastic paraplegia type 29" RELATED [Orphanet:101009] -synonym: "hereditary spastic paraplegia type 29" EXACT [DOID:0110780, MONDORULE:2] +synonym: "autosomal dominant spastic paraplegia type 29" RELATED [] +synonym: "hereditary spastic paraplegia type 29" EXACT [MONDORULE:2] synonym: "spastic paraplegia 29" RELATED [GARD:0009729] -synonym: "spastic paraplegia 29, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609727] +synonym: "spastic paraplegia 29, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG29" EXACT ABBREVIATION [DOID:0110780, MONDO:Lexical, OMIM:609727, Orphanet:101009] xref: DOID:0110780 {source="MONDO:equivalentTo"} xref: GARD:9729 {source="MONDO:GARD"} @@ -280275,14 +280324,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:71526"} subset: ordo_subtype_of_a_disorder {source="Orphanet:71526"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OBAIRH" RELATED ABBREVIATION [OMIM:609734] -synonym: "obesity, adrenal insufficiency, and red hair due to POMC deficiency" EXACT [OMIM:609734, OMIM:genemap2] -synonym: "obesity, early-onset, adrenal insufficiency, and Red hair" RELATED [OMIM:609734] -synonym: "obesity, early-onset, with adrenal insufficiency and RED hair" RELATED [OMIM:609734] -synonym: "obesity, early-onset, with adrenal insufficiency and Red hair" RELATED [OMIM:609734] -synonym: "POMC Deficiency" EXACT [NORD:110450] +synonym: "OBAIRH" RELATED ABBREVIATION [] +synonym: "obesity, adrenal insufficiency, and red hair due to POMC deficiency" EXACT [] +synonym: "obesity, early-onset, adrenal insufficiency, and Red hair" RELATED [] +synonym: "obesity, early-onset, with adrenal insufficiency and RED hair" RELATED [] +synonym: "obesity, early-onset, with adrenal insufficiency and Red hair" RELATED [] +synonym: "POMC Deficiency" EXACT [NORD:110450, Orphanet:71526] synonym: "POMC deficiency" EXACT [Orphanet:71526] -synonym: "PROOPIOMELANOCORTIN deficiency" RELATED [OMIM:609734] +synonym: "PROOPIOMELANOCORTIN deficiency" RELATED [] xref: GARD:10823 {source="MONDO:GARD"} xref: ICD10CM:E66.8 {source="Orphanet:71526", source="Orphanet:71526/attributed", source="Orphanet:71526/ntbt"} xref: icd11.foundation:530374033 {source="MONDO:equivalentTo"} @@ -280307,9 +280356,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive congenital nuclear cataract 2" NARROW [DOID:0110268] -synonym: "cataract 22" EXACT [OMIM:609741, OMIM:genemap2] -synonym: "cataract 22, multiple types" RELATED [MONDO:Lexical, OMIM:609741] -synonym: "cataract, congenital nuclear, autosomal recessive 2" RELATED [OMIM:609741] +synonym: "cataract 22" EXACT [] +synonym: "cataract 22, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract, congenital nuclear, autosomal recessive 2" RELATED [] synonym: "CATCN2" NARROW ABBREVIATION [DOID:0110268] synonym: "CRYBB3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CTRCT22" EXACT ABBREVIATION [DOID:0110268, MONDO:Lexical, OMIM:609741] @@ -280333,8 +280382,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012337 name: obsolete glaucoma 1, open angle, I -synonym: "glaucoma 1, open angle, I" EXACT [MONDO:Lexical, OMIM:609745] -synonym: "GLC1I" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609745] +synonym: "glaucoma 1, open angle, I" EXACT [MONDO:Lexical] +synonym: "GLC1I" EXACT ABBREVIATION [MONDO:Lexical] xref: MESH:C565724 {source="MONDO:obsoleteEquivalent"} xref: OMIM:609745 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"} @@ -280345,10 +280394,10 @@ is_obsolete: true id: MONDO:0012338 name: epilepsy, idiopathic generalized, susceptibility to, 4 subset: predisposition -synonym: "EIG4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609750] -synonym: "epilepsy, idiopathic generalized, susceptibility to 4" EXACT [OMIM:609750, OMIM:genemap2] +synonym: "EIG4" EXACT ABBREVIATION [DOID:0111319, MONDO:Lexical, OMIM:609750] +synonym: "epilepsy, idiopathic generalized, susceptibility to 4" EXACT [] synonym: "epilepsy, idiopathic generalized, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:609750] -synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [OMIM:609750] +synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [] xref: DOID:0111319 {source="MONDO:equivalentTo"} xref: MEDGEN:387924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609750 {source="MONDO:equivalentTo"} @@ -280366,14 +280415,14 @@ def: "Any celiac disease in which the cause of the disease is a mutation in the subset: predisposition synonym: "celiac disease caused by mutation in MYO9B" EXACT [MONDO:design_pattern] synonym: "celiac disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:609753] -synonym: "celiac disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:609753] -synonym: "CELIAC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609753] +synonym: "celiac disease, susceptibility to, type 4" EXACT [MONDORULE:1] +synonym: "CELIAC4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "coeliac disease caused by mutation in MYO9B" EXACT OMO:0003005 [] synonym: "coeliac disease, susceptibility to, type 4" EXACT OMO:0003005 [] -synonym: "gluten-sensitive enteropathy, susceptibility to, 4" RELATED [OMIM:609753] +synonym: "gluten-sensitive enteropathy, susceptibility to, 4" RELATED [] synonym: "MYO9B celiac disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MYO9B coeliac disease" EXACT OMO:0003005 [] -synonym: "susceptibility to celiac disease 4" RELATED [OMIM:609753] +synonym: "susceptibility to celiac disease 4" RELATED [] synonym: "susceptibility to coeliac disease 4" RELATED OMO:0003005 [] xref: MEDGEN:346679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609753 {source="MONDO:equivalentTo"} @@ -280390,7 +280439,7 @@ name: celiac disease, susceptibility to, 2 subset: predisposition synonym: "celiac disease, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:609754] synonym: "CELIAC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609754] -synonym: "gluten-sensitive enteropathy, susceptibility to, 2" RELATED [OMIM:609754] +synonym: "gluten-sensitive enteropathy, susceptibility to, 2" RELATED [] xref: MEDGEN:347564 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609754 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:609754"} @@ -280407,14 +280456,14 @@ def: "Any celiac disease in which the cause of the disease is a mutation in the subset: predisposition synonym: "celiac disease caused by mutation in CTLA4" EXACT [MONDO:design_pattern] synonym: "celiac disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:609755] -synonym: "celiac disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609755] -synonym: "CELIAC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609755] +synonym: "celiac disease, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "CELIAC3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "coeliac disease caused by mutation in CTLA4" EXACT OMO:0003005 [] synonym: "coeliac disease, susceptibility to, type 3" EXACT OMO:0003005 [] synonym: "CTLA4 celiac disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CTLA4 coeliac disease" EXACT OMO:0003005 [] -synonym: "gluten-sensitive enteropathy, susceptibility to, 3" RELATED [OMIM:609755] -synonym: "susceptibility to celiac disease 3" RELATED [OMIM:609755] +synonym: "gluten-sensitive enteropathy, susceptibility to, 3" RELATED [] +synonym: "susceptibility to celiac disease 3" RELATED [] synonym: "susceptibility to coeliac disease 3" RELATED OMO:0003005 [] xref: MEDGEN:347563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609755 {source="MONDO:equivalentTo"} @@ -280437,14 +280486,14 @@ subset: orphanet_rare {source="Orphanet:96121"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "7q11.23 duplication syndrome" RELATED [GARD:0012076] -synonym: "chromosome 7Q11.23 Duplication syndrome" RELATED [OMIM:609757] -synonym: "chromosome 7Q11.23 triplication syndrome" RELATED [OMIM:609757] +synonym: "chromosome 7Q11.23 Duplication syndrome" RELATED [] +synonym: "chromosome 7Q11.23 triplication syndrome" RELATED [] synonym: "dup(7)(q11.23)" EXACT [Orphanet:96121] -synonym: "Somerville-Van Der Aa syndrome" RELATED [OMIM:609757] +synonym: "Somerville-Van Der Aa syndrome" RELATED [] synonym: "trisomy 7q11.23" EXACT [Orphanet:96121] -synonym: "Wbs Duplication syndrome" RELATED [OMIM:609757] -synonym: "Wbs triplication syndrome" RELATED [OMIM:609757] -synonym: "Williams-Beuren region DUPLICATION syndrome" RELATED [OMIM:609757] +synonym: "Wbs Duplication syndrome" RELATED [] +synonym: "Wbs triplication syndrome" RELATED [] +synonym: "Williams-Beuren region DUPLICATION syndrome" RELATED [] xref: DECIPHER:43 {source="MONDO:equivalentTo"} xref: DOID:0080926 {source="MONDO:equivalentTo"} xref: GARD:12076 {source="MONDO:GARD"} @@ -280468,7 +280517,7 @@ subset: gard_rare {source="GARD:16492", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AAA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609782] -synonym: "aortic aneurysm, familial abdominal 2" EXACT [OMIM:609782, OMIM:genemap2] +synonym: "aortic aneurysm, familial abdominal 2" EXACT [] synonym: "aortic aneurysm, familial abdominal, 2" EXACT [MONDO:Lexical, OMIM:609782] xref: GARD:16492 {source="MONDO:GARD"} xref: MEDGEN:339960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -280485,14 +280534,14 @@ name: Alzheimer disease 11 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1." [DOID:0110044, PMID:18761660] subset: gard_rare {source="GARD:16515", source="MONDO:GARD"} subset: rare -synonym: "AD11" EXACT ABBREVIATION [DOID:0110044] -synonym: "Ad11" RELATED [OMIM:609790] +synonym: "AD11" EXACT ABBREVIATION [DOID:0110044, OMIM:609790] +synonym: "Ad11" RELATED [] synonym: "Alzheimer disease 11" EXACT [DOID:0110044, OMIM:609790] -synonym: "Alzheimer disease type 11" EXACT [MONDORULE:2, OMIM:609790] -synonym: "Alzheimer disease, familial, 11" RELATED [OMIM:609790] -synonym: "Alzheimer disease-11" EXACT [OMIM:609790, OMIM:genemap2] -synonym: "Alzheimer's disease 11" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 11" EXACT [DOID:0110044, MONDORULE:2] +synonym: "Alzheimer disease type 11" EXACT [MONDORULE:2] +synonym: "Alzheimer disease, familial, 11" RELATED [] +synonym: "Alzheimer disease-11" EXACT [] +synonym: "Alzheimer's disease 11" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110044, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 11" EXACT [MONDORULE:2] xref: DOID:0110044 {source="MONDO:equivalentTo"} xref: GARD:16515 {source="MONDO:GARD"} xref: ICD10CM:G30 {source="DOID:0110044"} @@ -280514,17 +280563,17 @@ subset: ordo_disorder {source="Orphanet:263534"} subset: orphanet_rare {source="Orphanet:263534"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acral deciduous skin" EXACT [Orphanet:263534] -synonym: "acral peeling skin syndrome" EXACT CLINGEN_LABEL [OMIM:609796] +synonym: "acral deciduous skin" EXACT [] +synonym: "acral peeling skin syndrome" EXACT CLINGEN_LABEL [OMIM:609796, Orphanet:263534] synonym: "acral PSS" EXACT [Orphanet:263534] synonym: "localised deciduous skin" EXACT OMO:0003005 [] synonym: "localised PSS" EXACT OMO:0003005 [] -synonym: "localized deciduous skin" EXACT [Orphanet:263534] +synonym: "localized deciduous skin" EXACT [] synonym: "localized PSS" EXACT [Orphanet:263534] -synonym: "peeling skin syndrome 2" RELATED [MONDO:Lexical, OMIM:609796] -synonym: "peeling skin syndrome type 2" EXACT [MONDORULE:1, OMIM:609796] -synonym: "peeling skin syndrome, acral type" RELATED [OMIM:609796] -synonym: "PSS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609796] +synonym: "peeling skin syndrome 2" RELATED [MONDO:Lexical] +synonym: "peeling skin syndrome type 2" EXACT [MONDORULE:1] +synonym: "peeling skin syndrome, acral type" RELATED [] +synonym: "PSS2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070521 {source="MONDO:equivalentTo"} xref: GARD:12863 {source="MONDO:GARD"} xref: ICD10CM:Q80.8 {source="Orphanet:263534", source="Orphanet:263534/attributed", source="Orphanet:263534/ntbt"} @@ -280543,8 +280592,8 @@ id: MONDO:0012346 name: generalized epilepsy with febrile seizures plus, type 4 subset: gard_rare {source="GARD:18662", source="MONDO:GARD"} subset: rare -synonym: "Gefs+, type 4" RELATED [OMIM:609800] -synonym: "GEFSP4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609800] +synonym: "Gefs+, type 4" RELATED [] +synonym: "GEFSP4" EXACT ABBREVIATION [DOID:0111293, MONDO:Lexical, OMIM:609800] synonym: "generalized epilepsy with febrile seizures plus, type 4" EXACT [MONDO:Lexical, OMIM:609800] xref: DOID:0111293 {source="MONDO:equivalentTo"} xref: GARD:18662 {source="MONDO:GARD"} @@ -280559,7 +280608,7 @@ is_a: MONDO:0018214 {source="DC-OMIM:609800", source="DOID:0111293", source="OMI id: MONDO:0012347 name: hamartoma, Precalcaneal congenital fibrolipomatous synonym: "hamartoma, Precalcaneal congenital fibrolipomatous" EXACT [OMIM:609808] -synonym: "Pcfh" RELATED [OMIM:609808] +synonym: "Pcfh" RELATED [] xref: MEDGEN:342846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565226 {source="MONDO:equivalentTo"} xref: OMIM:609808 {source="MONDO:equivalentTo"} @@ -280578,15 +280627,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEL maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "diabetes and pancreatic exocrine" EXACT [DOID:0111105] -synonym: "diabetes and pancreatic exocrine dysfunction" RELATED [OMIM:609812] +synonym: "diabetes and pancreatic exocrine dysfunction" RELATED [] synonym: "diabetes mellitus MODY type 8" RELATED [GARD:0010662] -synonym: "diabetes-pancreatic exocrine dysfunction syndrome" RELATED [OMIM:609812] +synonym: "diabetes-pancreatic exocrine dysfunction syndrome" RELATED [] synonym: "DPED" RELATED ABBREVIATION [GARD:0010662] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in CEL" EXACT [] synonym: "maturity-onset diabetes of the young type 8 with exocrine dysfunction" EXACT [DOID:0111105] synonym: "maturity-onset diabetes of the young, type 8" RELATED [GARD:0010662] -synonym: "maturity-onset diabetes of the young, type 8, with exocrine dysfunction" RELATED [GARD:0010662, MONDO:Lexical, OMIM:609812] -synonym: "maturity-onset diabetes of the young, type VIII" EXACT [OMIM:609812, OMIM:genemap2] +synonym: "maturity-onset diabetes of the young, type 8, with exocrine dysfunction" RELATED [GARD:0010662, MONDO:Lexical] +synonym: "maturity-onset diabetes of the young, type VIII" EXACT [] synonym: "MODY type 8" EXACT [DOID:0111105] synonym: "MODY8" EXACT ABBREVIATION [DOID:0111105, MONDO:Lexical, OMIM:609812] synonym: "type 8 maturity-onset diabetes of the young" RELATED [GARD:0010662] @@ -280615,7 +280664,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in LFNG" EXACT [] synonym: "LFNG autosomal recessive spondylocostal dysostosis" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "SCDO3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609813] +synonym: "SCDO3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SCOD3" RELATED ABBREVIATION [GARD:0004973] synonym: "spondylocostal dysostosis 3" RELATED [GARD:0004973] synonym: "spondylocostal dysostosis 3, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609813] @@ -280640,10 +280689,10 @@ subset: gard_rare {source="GARD:18551", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cfh deficiency" RELATED [OMIM:609814] -synonym: "CFHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609814] +synonym: "Cfh deficiency" RELATED [] +synonym: "CFHD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "complement factor H deficiency" EXACT [MONDO:Lexical, OMIM:609814] -synonym: "factor H deficiency" RELATED [OMIM:609814] +synonym: "factor H deficiency" RELATED [] xref: GARD:18551 {source="MONDO:GARD"} xref: ICD9:279.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:96024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -280673,9 +280722,9 @@ synonym: "SD1, Weidenreich type" EXACT [Orphanet:295187] synonym: "SD1a" EXACT [Orphanet:295187] synonym: "syndactyly type 1, Weidenreich type" EXACT [Orphanet:295187] synonym: "syndactyly type 1a" EXACT [Orphanet:295187] -synonym: "Zd1" RELATED [OMIM:609815] -synonym: "ZYGODACTYLY 1" RELATED [OMIM:609815] -synonym: "zygodactyly type 1" EXACT [MONDORULE:1, OMIM:609815] +synonym: "Zd1" RELATED [] +synonym: "ZYGODACTYLY 1" RELATED [] +synonym: "zygodactyly type 1" EXACT [icd11.foundation:1671375617, MONDORULE:1, Orphanet:295187] synonym: "Zygodactyly, Weidenreich type" EXACT [Orphanet:295187] xref: DOID:0111820 {source="MONDO:equivalentTo"} xref: GARD:17357 {source="MONDO:GARD"} @@ -280706,10 +280755,10 @@ def: "Any familial polycythemia in which the cause of the disease is a mutation subset: gard_rare {source="GARD:18355", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECYT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609820] +synonym: "ECYT3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "EGLN1 familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "erythrocytosis, familial, 3" EXACT [MONDO:Lexical, OMIM:609820] -synonym: "erythrocytosis, familial, type 3" EXACT [MONDORULE:1, OMIM:609820] +synonym: "erythrocytosis, familial, type 3" EXACT [MONDORULE:1] synonym: "familial polycythemia caused by mutation in EGLN1" EXACT [MONDO:design_pattern] xref: DOID:0080338 {source="MONDO:equivalentTo"} xref: GARD:18355 {source="MONDO:GARD"} @@ -280734,14 +280783,14 @@ subset: ordo_disorder {source="Orphanet:36355"} subset: orphanet_rare {source="Orphanet:36355"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADP platelet receptor P2Y12 defect" EXACT [DOID:0060692, Orphanet:36355] -synonym: "BDPLT8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609821] -synonym: "bleeding disorder due to P2Rx1 defect, somatic" RELATED [OMIM:609821] -synonym: "bleeding disorder due to P2Ry12 defect" RELATED [OMIM:609821] +synonym: "ADP platelet receptor P2Y12 defect" EXACT [DOID:0060692] +synonym: "BDPLT8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "bleeding disorder due to P2Rx1 defect, somatic" RELATED [] +synonym: "bleeding disorder due to P2Ry12 defect" RELATED [] synonym: "bleeding disorder, platelet-type 8" RELATED [GARD:0012478] -synonym: "bleeding disorder, platelet-type, 8" RELATED [MONDO:Lexical, OMIM:609821] +synonym: "bleeding disorder, platelet-type, 8" RELATED [MONDO:Lexical] synonym: "P2Y12 defect" EXACT [DOID:0060692] -synonym: "platelet-type bleeding disorder 8" EXACT CLINGEN_LABEL [] +synonym: "platelet-type bleeding disorder 8" EXACT CLINGEN_LABEL [DOID:0060692] xref: DOID:0060692 {source="MONDO:equivalentTo"} xref: GARD:12478 {source="MONDO:GARD"} xref: ICD10CM:D69.8 {source="DOID:0060692", source="Orphanet:36355/attributed", source="Orphanet:36355/ntbt", source="Orphanet:36355"} @@ -280764,14 +280813,14 @@ def: "An autosomal recessive disorder caused by mutations in the TRIOBP gene, en subset: gard_rare {source="GARD:22617", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 28" NARROW [DOID:0110486] -synonym: "autosomal recessive nonsyndromic deafness 28" NARROW [OMIM:609823] +synonym: "autosomal recessive deafness 28" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 28" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 28" NARROW [DOID:0110486, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 28" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 28" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 28" NARROW [MONDO:Lexical, OMIM:609823, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 28" NARROW [MONDORULE:2, OMIM:609823] -synonym: "DFNB28" NARROW ABBREVIATION [DOID:0110486, MONDO:Lexical, OMIM:609823] +synonym: "deafness, autosomal recessive 28" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 28" NARROW [MONDORULE:2] +synonym: "DFNB28" NARROW ABBREVIATION [MONDO:Lexical] synonym: "TRIOBP autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110486 {source="MONDO:equivalentTo"} xref: GARD:22617 {source="MONDO:GARD"} @@ -280801,9 +280850,9 @@ id: MONDO:0012357 name: obsolete glaucoma 1, open angle, G def: "OBSOLETE. Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen {source="MONDO:CLINGEN"} -synonym: "glaucoma 1, open angle, G" EXACT [MONDO:Lexical, OMIM:609887] -synonym: "glaucoma 1, open angle, type G" EXACT [MONDORULE:1, OMIM:609887] -synonym: "GLC1G" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609887] +synonym: "glaucoma 1, open angle, G" EXACT [MONDO:Lexical] +synonym: "glaucoma 1, open angle, type G" EXACT [MONDORULE:1] +synonym: "GLC1G" RELATED ABBREVIATION [MONDO:Lexical] synonym: "open-angle glaucoma caused by mutation in WDR36" EXACT [MONDO:design_pattern] synonym: "WDR36 open-angle glaucoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MESH:C563692 {source="MONDO:obsoleteEquivalent"} @@ -280817,8 +280866,8 @@ is_obsolete: true id: MONDO:0012358 name: leprosy, susceptibility to, 1 subset: predisposition -synonym: "leprosy, paucibacillary type, susceptibility to" EXACT [OMIM:609888, OMIM:genemap2] -synonym: "leprosy, Paucibacillary type, susceptibility to, 1" RELATED [OMIM:609888] +synonym: "leprosy, paucibacillary type, susceptibility to" EXACT [] +synonym: "leprosy, Paucibacillary type, susceptibility to, 1" RELATED [] synonym: "leprosy, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:609888] synonym: "LPRS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609888] xref: MEDGEN:332089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -280841,7 +280890,7 @@ subset: ordo_disorder {source="Orphanet:231154"} subset: orphanet_rare {source="Orphanet:231154"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity" RELATED [OMIM:609889] +synonym: "alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity" RELATED [] synonym: "CID due to partial RAG1 deficiency" EXACT [Orphanet:231154] synonym: "CID with expansion of gamma delta T cells" EXACT [Orphanet:231154] synonym: "combined immunodeficiency with expansion of gamma delta T cells" EXACT [Orphanet:231154] @@ -280867,8 +280916,8 @@ subset: rare synonym: "CHNG3" EXACT ABBREVIATION [DOID:0070127, MONDO:Lexical, OMIM:609893] synonym: "congenital nongoitrous hypothyroidism 3" EXACT [DOID:0070127] synonym: "hypothyroidism, congenital, nongoitrous, 3" EXACT [MONDO:Lexical, OMIM:609893] -synonym: "resistance to thyrotropin" RELATED [OMIM:609893] -synonym: "thyrotropin resistance" RELATED [OMIM:609893] +synonym: "resistance to thyrotropin" RELATED [] +synonym: "thyrotropin resistance" RELATED [] xref: DOID:0070127 {source="MONDO:equivalentTo"} xref: ICD10CM:E03.1 {source="DOID:0070127"} xref: MEDGEN:424853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -280901,9 +280950,9 @@ subset: gard_rare {source="GARD:15469", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy, dilated, 1P" EXACT [MONDO:Lexical, OMIM:609909] -synonym: "cardiomyopathy, dilated, type 1P" EXACT [MONDORULE:4, OMIM:609909] +synonym: "cardiomyopathy, dilated, type 1P" EXACT [MONDORULE:4] synonym: "CMD1P" EXACT ABBREVIATION [DOID:0110439, MONDO:Lexical, OMIM:609909] -synonym: "dilated cardiomyopathy type 1P" EXACT [DOID:0110439, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1P" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in PLN" EXACT [MONDO:design_pattern] synonym: "PLN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110439 {source="MONDO:equivalentTo"} @@ -280925,8 +280974,8 @@ subset: gard_rare {source="GARD:10395", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "retinitis pigmentosa 32" EXACT [MONDO:Lexical, OMIM:609913] -synonym: "retinitis pigmentosa type 32" EXACT [DOID:0110355, MONDORULE:2] +synonym: "retinitis pigmentosa 32" EXACT [DOID:0110355, MONDO:Lexical, OMIM:609913] +synonym: "retinitis pigmentosa type 32" EXACT [MONDORULE:2] synonym: "RP32" EXACT ABBREVIATION [DOID:0110355, GARD:0010395, MONDO:Lexical, OMIM:609913] xref: DOID:0110355 {source="MONDO:equivalentTo"} xref: GARD:10395 {source="MONDO:GARD"} @@ -280946,9 +280995,9 @@ def: "A dilated cardiomyopathy that has material basis in variation in the chrom subset: gard_rare {source="GARD:15470", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1Q" RELATED [MONDO:Lexical, OMIM:609915] +synonym: "cardiomyopathy, dilated, 1Q" RELATED [MONDO:Lexical] synonym: "CMD1Q" EXACT ABBREVIATION [DOID:0110442, MONDO:Lexical, OMIM:609915] -synonym: "dilated cardiomyopathy type 1Q" EXACT [DOID:0110442, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1Q" EXACT [MONDORULE:4] xref: DOID:0110442 {source="MONDO:equivalentTo"} xref: GARD:15470 {source="MONDO:GARD"} xref: ICD10CM:I42.0 {source="DOID:0110442"} @@ -280991,9 +281040,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:10396", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 31" EXACT [MONDO:Lexical, OMIM:609923] +synonym: "retinitis pigmentosa 31" EXACT [DOID:0110391, MONDO:Lexical, OMIM:609923] synonym: "retinitis pigmentosa caused by mutation in TOPORS" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 31" EXACT [DOID:0110391, MONDORULE:2, OMIM:609923] +synonym: "retinitis pigmentosa type 31" EXACT [MONDORULE:2] synonym: "RP 31" RELATED [GARD:0010396] synonym: "RP31" EXACT ABBREVIATION [DOID:0110391, MONDO:Lexical, OMIM:609923] synonym: "TOPORS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -281026,10 +281075,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACY1 deficiency" RELATED [GARD:0009741] synonym: "ACY1D" EXACT ABBREVIATION [GARD:0009741, MESH:C538246, MONDO:Lexical, OMIM:609924, Orphanet:137754] -synonym: "aminoacylase 1 deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609924] +synonym: "aminoacylase 1 deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609924, Orphanet:137754] synonym: "deficiency of the aminoacylase-1 enzyme" RELATED [GARD:0009741, MESH:C538246] synonym: "N-acyl-L-amino acid amidohydrolase deficiency" EXACT [Orphanet:137754] -synonym: "neurological conditions associated with aminoacylase 1 deficiency" EXACT [Orphanet:137754] +synonym: "neurological conditions associated with aminoacylase 1 deficiency" EXACT [] xref: EFO:1001981 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9741 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:137754", source="Orphanet:137754/attributed", source="Orphanet:137754/ntbt"} @@ -281069,11 +281118,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:9918", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 51" NARROW [DOID:0110508] -synonym: "autosomal recessive nonsyndromic deafness 51" NARROW [OMIM:609941] -synonym: "autosomal recessive nonsyndromic deafness type 51" NARROW [DOID:0110508, MONDORULE:2] -synonym: "deafness, autosomal recessive 51" NARROW [MONDO:Lexical, OMIM:609941, OMIM:genemap2] -synonym: "DFNB51" NARROW ABBREVIATION [DOID:0110508, MONDO:Lexical, OMIM:609941] +synonym: "autosomal recessive deafness 51" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 51" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 51" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 51" NARROW [MONDO:Lexical] +synonym: "DFNB51" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110508 {source="MONDO:equivalentTo"} xref: GARD:9918 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110508"} @@ -281094,10 +281143,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "KRAS gene related Noonan syndrome" EXACT [GARD:0009885] synonym: "KRAS Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Noonan syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:609942] +synonym: "Noonan syndrome 3" EXACT CLINGEN_LABEL [DOID:0060581, MONDO:Lexical, NCIT:C176931, OMIM:609942] synonym: "Noonan syndrome caused by mutation in KRAS" EXACT [MONDO:design_pattern] -synonym: "Noonan syndrome type 3" EXACT [DOID:0060581, MONDORULE:1, OMIM:609942] -synonym: "NS3" EXACT ABBREVIATION [DOID:0060581, MONDO:Lexical, OMIM:609942] +synonym: "Noonan syndrome type 3" EXACT [MONDORULE:1] +synonym: "NS3" EXACT ABBREVIATION [DOID:0060581, MONDO:Lexical, NCIT:C176931, OMIM:609942] xref: DOID:0060581 {source="MONDO:equivalentTo"} xref: GARD:9885 {source="MONDO:GARD"} xref: MEDGEN:349931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -281148,12 +281197,12 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:9935", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 47" NARROW [DOID:0110504] -synonym: "autosomal recessive nonsyndromic deafness 47" NARROW [OMIM:609946] -synonym: "autosomal recessive nonsyndromic deafness type 47" NARROW [DOID:0110504, MONDORULE:2] -synonym: "deafness, autosomal recessive 47" NARROW [MONDO:Lexical, OMIM:609946] -synonym: "deafness, neurosensory, autosomal recessive 47" EXACT [GARD:0009935, OMIM:609946, OMIM:genemap2] -synonym: "DFNB47" NARROW ABBREVIATION [DOID:0110504, MONDO:Lexical, OMIM:609946] +synonym: "autosomal recessive deafness 47" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 47" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 47" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 47" NARROW [MONDO:Lexical] +synonym: "deafness, neurosensory, autosomal recessive 47" EXACT [GARD:0009935] +synonym: "DFNB47" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110504 {source="MONDO:equivalentTo"} xref: GARD:9935 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110504"} @@ -281172,11 +281221,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:9919", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 55" NARROW [DOID:0110510] -synonym: "autosomal recessive nonsyndromic deafness 55" NARROW [OMIM:609952] -synonym: "autosomal recessive nonsyndromic deafness type 55" NARROW [DOID:0110510, MONDORULE:2] -synonym: "deafness, autosomal recessive 55" NARROW [MONDO:Lexical, OMIM:609952, OMIM:genemap2] -synonym: "DFNB55" NARROW ABBREVIATION [DOID:0110510, MONDO:Lexical, OMIM:609952] +synonym: "autosomal recessive deafness 55" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 55" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 55" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 55" NARROW [MONDO:Lexical] +synonym: "DFNB55" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110510 {source="MONDO:equivalentTo"} xref: GARD:9919 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110510"} @@ -281192,8 +281241,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012377 name: asperger syndrome, susceptibility to, 4 subset: predisposition -synonym: "Asperger syndrome susceptibility 4" EXACT [OMIM:609954, OMIM:genemap2] -synonym: "ASPERGER syndrome, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:609954] +synonym: "Asperger syndrome susceptibility 4" EXACT [] +synonym: "ASPERGER syndrome, susceptibility to, 4" RELATED [MONDO:Lexical] synonym: "ASPG4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609954] xref: MEDGEN:400650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609954 {source="MONDO:equivalentTo"} @@ -281214,8 +281263,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "fibromatosis gingival, hereditary, 3" RELATED [GARD:0009911] synonym: "fibromatosis, gingival, 3" EXACT [MONDO:Lexical, OMIM:609955] -synonym: "fibromatosis, gingival, hereditary, 3" RELATED [OMIM:609955] -synonym: "GGF3" RELATED ABBREVIATION [OMIM:609955] +synonym: "fibromatosis, gingival, hereditary, 3" RELATED [] +synonym: "GGF3" RELATED ABBREVIATION [] synonym: "GINGF3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609955] synonym: "gingival fibromatosis, 3" RELATED [GARD:0009911] synonym: "hereditary gingival fibromatosis, 3" RELATED [GARD:0009911] @@ -281232,9 +281281,9 @@ is_a: MONDO:0016070 {source="DC-OMIM:609955", source="OMIM:609955"} ! hereditary id: MONDO:0012379 name: asthma-related traits, susceptibility to, 3 subset: predisposition -synonym: "ASRT3" RELATED ABBREVIATION [OMIM:609958] +synonym: "ASRT3" RELATED ABBREVIATION [] synonym: "asthma-related traits, susceptibility to, 3" EXACT [OMIM:609958] -synonym: "asthma-related traits, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609958] +synonym: "asthma-related traits, susceptibility to, type 3" EXACT [MONDORULE:1] xref: MEDGEN:355337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609958 {source="MONDO:equivalentTo"} xref: UMLS:C1864959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:355337"} @@ -281247,12 +281296,12 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:9934", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 53" NARROW [DOID:0110579] -synonym: "autosomal dominant nonsyndromic deafness 53" NARROW [OMIM:609965] -synonym: "autosomal dominant nonsyndromic deafness type 53" NARROW [DOID:0110579, MONDORULE:2] -synonym: "deafness, autosomal dominant 53" NARROW [MONDO:Lexical, OMIM:609965, OMIM:genemap2] +synonym: "autosomal dominant deafness 53" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 53" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 53" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 53" NARROW [MONDO:Lexical] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 53" NARROW [GARD:0009934] -synonym: "DFNA53" NARROW ABBREVIATION [DOID:0110579, MONDO:Lexical, OMIM:609965] +synonym: "DFNA53" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110579 {source="MONDO:equivalentTo"} xref: GARD:9934 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110579"} @@ -281274,11 +281323,11 @@ subset: ordo_disorder {source="Orphanet:263458"} subset: orphanet_rare {source="Orphanet:263458"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HHF5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609968] -synonym: "hyperinsulinemic hypoglycemia due to INSR deficiency" EXACT [Orphanet:263458] -synonym: "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXACT [Orphanet:263458] -synonym: "hyperinsulinemic hypoglycemia, familial, 5" RELATED [MONDO:Lexical, OMIM:609968] -synonym: "hyperinsulinemic hypoglycemia, familial, type 5" EXACT [MONDORULE:1, OMIM:609968] +synonym: "HHF5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperinsulinemic hypoglycemia due to INSR deficiency" EXACT [DOID:0070220, Orphanet:263458] +synonym: "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXACT [DOID:0070220, Orphanet:263458] +synonym: "hyperinsulinemic hypoglycemia, familial, 5" RELATED [MONDO:Lexical] +synonym: "hyperinsulinemic hypoglycemia, familial, type 5" EXACT [MONDORULE:1] xref: DOID:0070220 {source="MONDO:equivalentTo"} xref: GARD:17256 {source="MONDO:GARD"} xref: ICD10CM:E16.1 {source="Orphanet:263458/attributed", source="Orphanet:263458/ntbt", source="Orphanet:263458"} @@ -281304,29 +281353,29 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "3-alpha hydroxyacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870] synonym: "3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency" RELATED [MESH:C535310] -synonym: "3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [OMIM:231530] +synonym: "3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [] synonym: "3-hydroxyacyl-Coenzyme A dehydrogenase deficiency" RELATED [MESH:C535310] synonym: "3-hydroxylacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870] synonym: "had deficiency" RELATED [MESH:C535310] -synonym: "HADH deficiency" RELATED [GARD:0009870, MESH:C535310, OMIM:231530] +synonym: "HADH deficiency" RELATED [GARD:0009870, MESH:C535310] synonym: "HADH hyperinsulinemic hypoglycemia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "HADHSC deficiency" RELATED [MESH:C535310] -synonym: "HHF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609975] +synonym: "HHF4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to HADH deficiency" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [Orphanet:71212] +synonym: "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [DOID:0070215, Orphanet:71212] synonym: "hyperinsulinemic hypoglycemia, familial, 4" EXACT [MONDO:Lexical, OMIM:609975] -synonym: "hyperinsulinemic hypoglycemia, familial, type 4" EXACT [MONDORULE:1, OMIM:609975] -synonym: "hyperinsulinism due to glutamodehydrogenase deficiency" EXACT [Orphanet:71212] -synonym: "hyperinsulinism due to SCHAD deficiency" EXACT [Orphanet:71212] +synonym: "hyperinsulinemic hypoglycemia, familial, type 4" EXACT [MONDORULE:1] +synonym: "hyperinsulinism due to glutamodehydrogenase deficiency" EXACT [DOID:0070215, Orphanet:71212] +synonym: "hyperinsulinism due to SCHAD deficiency" EXACT [DOID:0070215, Orphanet:71212] synonym: "hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency" EXACT [] -synonym: "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [MONDO:0009278] +synonym: "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [DOID:0070215, MONDO:0009278, Orphanet:71212] synonym: "L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency" RELATED [MESH:C535310] synonym: "M-SCHAD deficiency" RELATED [MESH:C535310] synonym: "M/SCHAD" RELATED [GARD:0009870] synonym: "medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency" RELATED [GARD:0009870] -synonym: "SCHAD deficiency" RELATED [MESH:C535310, OMIM:231530, Orphanet:71212] -synonym: "SCHAD deficiency, formerly" RELATED [OMIM:231530] +synonym: "SCHAD deficiency" RELATED [MESH:C535310] +synonym: "SCHAD deficiency, formerly" RELATED [] xref: DOID:0070215 {source="MONDO:equivalentTo"} xref: GARD:9870 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:71212/attributed", source="Orphanet:71212/ntbt", source="Orphanet:71212"} @@ -281358,13 +281407,13 @@ subset: ordo_disorder {source="Orphanet:75391"} subset: orphanet_rare {source="Orphanet:75391"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD54" RELATED ABBREVIATION [OMIM:609981] -synonym: "immunodeficiency 54" RELATED [OMIM:609981] +synonym: "IMD54" RELATED ABBREVIATION [] +synonym: "immunodeficiency 54" RELATED [] synonym: "mini-chromosome maintenance 4" EXACT [NCIT:C123729] -synonym: "natural KILLER cell and glucocorticoid deficiency with DNA repair defect" RELATED [MONDO:Lexical, OMIM:609981] -synonym: "natural Killer cell deficiency, familial isolated" RELATED [OMIM:609981] -synonym: "NKGCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:609981] -synonym: "primary immunodeficiency due to MCM4 deficiency" EXACT [Orphanet:75391] +synonym: "natural KILLER cell and glucocorticoid deficiency with DNA repair defect" RELATED [MONDO:Lexical] +synonym: "natural Killer cell deficiency, familial isolated" RELATED [] +synonym: "NKGCD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "primary immunodeficiency due to MCM4 deficiency" EXACT [DOID:0111967, Orphanet:75391] xref: DOID:0111967 {source="MONDO:equivalentTo"} xref: GARD:16695 {source="MONDO:GARD"} xref: ICD10CM:D84.8 {source="Orphanet:75391", source="Orphanet:75391/attributed", source="Orphanet:75391/ntbt"} @@ -281383,10 +281432,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012384 name: panic disorder 3 -synonym: "Pand3" RELATED [OMIM:609985] +synonym: "Pand3" RELATED [] synonym: "panic disorder 3" EXACT [OMIM:609985] -synonym: "panic disorder susceptibility locus, chromosome 4Q-related" RELATED [OMIM:609985] -synonym: "panic disorder type 3" EXACT [MONDORULE:1, OMIM:609985] +synonym: "panic disorder susceptibility locus, chromosome 4Q-related" RELATED [] +synonym: "panic disorder type 3" EXACT [MONDORULE:1] xref: MEDGEN:400645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:609985 {source="MONDO:equivalentTo"} xref: UMLS:C1864946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:400645"} @@ -281396,7 +281445,7 @@ is_a: MONDO:0031240 {source="DC-OMIM:609985", source="OMIM:609985"} ! familial p [Term] id: MONDO:0012385 name: metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands -synonym: "cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly" RELATED [OMIM:609989] +synonym: "cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly" RELATED [] synonym: "metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands" EXACT [OMIM:609989] xref: MEDGEN:355877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537354 {source="MONDO:equivalentTo"} @@ -281408,9 +281457,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9942/metaphy [Term] id: MONDO:0012386 name: trichoscyphodysplasia -synonym: "cupped metaphyses and cone-Shaped epiphyses with alopecia" RELATED [OMIM:609990] -synonym: "metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia" RELATED [OMIM:609990] -synonym: "metaphyseal chondrodysplasia with ectodermal dysplasia" RELATED [OMIM:609990] +synonym: "cupped metaphyses and cone-Shaped epiphyses with alopecia" RELATED [] +synonym: "metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia" RELATED [] +synonym: "metaphyseal chondrodysplasia with ectodermal dysplasia" RELATED [] synonym: "Trichoscyphodysplasia" EXACT [OMIM:609990] xref: MEDGEN:355876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536557 {source="MONDO:equivalentTo"} @@ -281429,8 +281478,8 @@ subset: orphanet_rare {source="Orphanet:75325"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "osteosclerosis with ichthyosis and POF" RELATED [GARD:0009904] -synonym: "osteosclerosis with ichthyosis and premature ovarian failure" RELATED [OMIM:609993] -synonym: "sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" RELATED [OMIM:609993] +synonym: "osteosclerosis with ichthyosis and premature ovarian failure" RELATED [] +synonym: "sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" RELATED [] synonym: "sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome" EXACT [Orphanet:75325] xref: GARD:9904 {source="MONDO:GARD"} xref: MEDGEN:355875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -281450,7 +281499,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012388 name: myopia 11, autosomal dominant -synonym: "myopia 11" EXACT [OMIM:609994, OMIM:genemap2] +synonym: "myopia 11" EXACT [] synonym: "myopia 11, autosomal dominant" EXACT [MONDO:Lexical, OMIM:609994] synonym: "MYP11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609994] xref: MEDGEN:355874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -281464,7 +281513,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012389 name: myopia 12, autosomal dominant -synonym: "myopia 12" EXACT [OMIM:609995, OMIM:genemap2] +synonym: "myopia 12" EXACT [] synonym: "myopia 12, autosomal dominant" EXACT [MONDO:Lexical, OMIM:609995] synonym: "MYP12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:609995] xref: MEDGEN:355332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -281498,15 +281547,15 @@ subset: orphanet_rare {source="Orphanet:1947"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ceroid lipofuscinosis neuronal 8" RELATED [GARD:0004010] -synonym: "ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant" RELATED [OMIM:610003] +synonym: "ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant" RELATED [] synonym: "CLN8" RELATED ABBREVIATION [GARD:0004010] synonym: "CLN8 disease, EPMR (subtype)" RELATED [GARD:0004010] synonym: "CLN8 disease, late infantile (subtype)" RELATED [GARD:0004010] synonym: "CLN8 disease, Northern epilepsy variant" EXACT [Orphanet:1947] synonym: "early onset familial encephalopathy with neuroserpin inclusion bodies" EXACT [Orphanet:530298] synonym: "epilepsy mental deterioration Finnish type" RELATED [GARD:0002163] -synonym: "epilepsy, progressive, with intellectual disability" RELATED [OMIM:610003] -synonym: "epilepsy, progressive, with mental retardation" RELATED DEPRECATED [OMIM:610003] +synonym: "epilepsy, progressive, with intellectual disability" RELATED [] +synonym: "epilepsy, progressive, with mental retardation" RELATED DEPRECATED [] synonym: "EPMR" EXACT ABBREVIATION [DOID:0110724] synonym: "NCL, Northern epilepsy variant" EXACT [Orphanet:1947] synonym: "neuronal ceroid lipofuscinosis 8" RELATED [GARD:0004010] @@ -281514,10 +281563,10 @@ synonym: "neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT [Orph synonym: "Northern epilepsy" EXACT [OMIM:610003, Orphanet:1947] synonym: "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT [DOID:0110724] synonym: "progressive epilepsy - intellectual disability, Finnish type" RELATED [GARD:0004010] -synonym: "progressive epilepsy with intellectual disability, northern epilepsy" EXACT [DOID:0110724] +synonym: "progressive epilepsy with intellectual disability, northern epilepsy" EXACT [] synonym: "progressive epilepsy with mental retardation, northern epilepsy" EXACT DEPRECATED [DOID:0110724] -synonym: "progressive epilepsy-intellectual disability syndrome, Finnish type" EXACT [DOID:0110724, GARD:0004010] -synonym: "progressive myoclonic epilepsy with neuroserpin inclusion bodies" EXACT [MONDO:0035160] +synonym: "progressive epilepsy-intellectual disability syndrome, Finnish type" EXACT [DOID:0110724, GARD:0004010, Orphanet:1947] +synonym: "progressive myoclonic epilepsy with neuroserpin inclusion bodies" EXACT [MONDO:0035160, Orphanet:530298] xref: DOID:0110724 {source="MONDO:equivalentTo"} xref: GARD:4010 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="DOID:0110724", source="Orphanet:1947/attributed", source="Orphanet:1947/ntbt", source="Orphanet:1947"} @@ -281549,15 +281598,15 @@ subset: orphanet_rare {source="Orphanet:79157"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "2-methylbutyric aciduria" EXACT [Orphanet:79157] -synonym: "2-methylbutyryl Glycinuria" RELATED [OMIM:610006] -synonym: "2-methylbutyryl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [OMIM:610006] -synonym: "2-methylbutyrylglycinuria" EXACT [OMIM:610006, OMIM:genemap2] +synonym: "2-methylbutyryl Glycinuria" RELATED [] +synonym: "2-methylbutyryl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [NCIT:C98863, OMIM:610006, Orphanet:79157] +synonym: "2-methylbutyrylglycinuria" EXACT [] synonym: "butyryl-CoA dehydrogenase deficiency" EXACT [NCIT:C98863] synonym: "developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency" EXACT [Orphanet:79157] synonym: "SBCAD deficiency" EXACT [Orphanet:79157] synonym: "short branched-chain acyl-CoA dehydrogenase deficiency" RELATED [GARD:0010322] -synonym: "short/branched-chain acyl-Coa dehydrogenase deficiency" RELATED [OMIM:610006] -synonym: "short/branched-chain acyl-coA dehydrogenase deficiency" EXACT [Orphanet:79157] +synonym: "short/branched-chain acyl-Coa dehydrogenase deficiency" RELATED [] +synonym: "short/branched-chain acyl-coA dehydrogenase deficiency" EXACT [OMIM:610006, Orphanet:79157] xref: GARD:10322 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:79157/attributed", source="Orphanet:79157/ntbt", source="Orphanet:79157"} xref: MEDGEN:355324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -281584,10 +281633,10 @@ subset: ordo_disorder {source="Orphanet:71278"} subset: orphanet_rare {source="Orphanet:71278"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital brain dysgenesis due to glutamine synthetase deficiency" EXACT CLINGEN_LABEL [] +synonym: "congenital brain dysgenesis due to glutamine synthetase deficiency" EXACT CLINGEN_LABEL [icd11.foundation:238162640, Orphanet:71278] synonym: "congenital glutamine deficiency" RELATED [GARD:0009848] -synonym: "glutamine deficiency, congenital" RELATED [OMIM:610015] -synonym: "glutamine synthase deficiency, congenital systemic" RELATED [OMIM:610015] +synonym: "glutamine deficiency, congenital" RELATED [] +synonym: "glutamine synthase deficiency, congenital systemic" RELATED [] synonym: "glutamine synthetase deficiency, congenital systemic" RELATED [GARD:0009848] synonym: "inherited glutamine synthetase deficiency" EXACT [Orphanet:71278] synonym: "inherited GS deficiency" EXACT [Orphanet:71278] @@ -281614,10 +281663,10 @@ subset: gard_rare {source="GARD:9916", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GDF5 multiple synostoses syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "multiple synostoses syndrome 2" EXACT [MONDO:Lexical, OMIM:610017] +synonym: "multiple synostoses syndrome 2" EXACT [DOID:0081318, MONDO:Lexical, OMIM:610017] synonym: "multiple synostoses syndrome caused by mutation in GDF5" EXACT [MONDO:design_pattern] -synonym: "multiple synostoses syndrome type 2" EXACT [MONDORULE:1, OMIM:610017] -synonym: "SYNS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610017] +synonym: "multiple synostoses syndrome type 2" EXACT [MONDORULE:1] +synonym: "SYNS2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081318 {source="MONDO:equivalentTo"} xref: GARD:9916 {source="MONDO:GARD"} xref: MEDGEN:331348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -281640,11 +281689,11 @@ subset: gard_rare {source="GARD:9892", source="MONDO:GARD"} subset: rare synonym: "autosomal recessive congenital cataract 2" EXACT [DOID:0110238] synonym: "cataract (disease) caused by mutation in FYCO1" EXACT [] -synonym: "cataract 18" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610019] +synonym: "cataract 18" EXACT CLINGEN_LABEL [DOID:0110238, MONDO:Lexical, OMIM:610019] synonym: "cataract 18 autosomal recessive" EXACT [DOID:0110238] -synonym: "cataract 18, autosomal recessive" EXACT [OMIM:610019, OMIM:genemap2] -synonym: "cataract type 18" EXACT [DOID:0110238, MONDORULE:2, OMIM:610019] -synonym: "cataract, autosomal recessive congenital 2" RELATED [OMIM:610019] +synonym: "cataract 18, autosomal recessive" EXACT [] +synonym: "cataract type 18" EXACT [MONDORULE:2] +synonym: "cataract, autosomal recessive congenital 2" RELATED [] synonym: "CATC2" EXACT ABBREVIATION [DOID:0110238] synonym: "CTRCT18" EXACT ABBREVIATION [DOID:0110238, MONDO:Lexical, OMIM:610019] synonym: "FYCO1 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] @@ -281677,17 +281726,17 @@ subset: ordo_disorder {source="Orphanet:165991"} subset: orphanet_rare {source="Orphanet:165991"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EIHI" EXACT ABBREVIATION [Orphanet:165991] +synonym: "EIHI" EXACT ABBREVIATION [DOID:0070214, Orphanet:165991] synonym: "exercise induced hyperinsulinemic hypoglycemia" RELATED [GARD:0009932] -synonym: "exercise-induced hyperinsulinemic hypoglycemia" EXACT [Orphanet:165991] -synonym: "HHF7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610021] +synonym: "exercise-induced hyperinsulinemic hypoglycemia" EXACT [DOID:0070214, Orphanet:165991] +synonym: "HHF7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hyperinsulinemic hypoglycemia exercise-induced" RELATED [GARD:0009932] synonym: "hyperinsulinemic hypoglycemia familial 7" RELATED [GARD:0009932] -synonym: "hyperinsulinemic hypoglycemia, exercise-induced" RELATED [OMIM:610021] -synonym: "hyperinsulinemic hypoglycemia, familial, 7" RELATED [MONDO:Lexical, OMIM:610021] -synonym: "hyperinsulinemic hypoglycemia, familial, type 7" EXACT [MONDORULE:1, OMIM:610021] -synonym: "hyperinsulinism due to monocarboxylate transporter 1 deficiency" EXACT [Orphanet:165991] -synonym: "hyperinsulinism due to SLC16A1 deficiency" EXACT [Orphanet:165991] +synonym: "hyperinsulinemic hypoglycemia, exercise-induced" RELATED [] +synonym: "hyperinsulinemic hypoglycemia, familial, 7" RELATED [MONDO:Lexical] +synonym: "hyperinsulinemic hypoglycemia, familial, type 7" EXACT [MONDORULE:1] +synonym: "hyperinsulinism due to monocarboxylate transporter 1 deficiency" EXACT [DOID:0070214, Orphanet:165991] +synonym: "hyperinsulinism due to SLC16A1 deficiency" EXACT [DOID:0070214, Orphanet:165991] synonym: "MCT1 hyperinsulinism" EXACT [NCIT:C131839] synonym: "monocarboxylate transporter 1 hyperinsulinism" EXACT [NCIT:C131839] xref: DOID:0070214 {source="MONDO:equivalentTo"} @@ -281723,13 +281772,13 @@ name: retinal cone dystrophy 3A comment: Editor note: TODO logical defs for achromatopsias subset: gard_rare {source="GARD:10648", source="MONDO:GARD"} subset: rare -synonym: "achromatopsia 6" RELATED [OMIM:610024] +synonym: "achromatopsia 6" RELATED [] synonym: "cone dystrophy with night blindness and supernormal rod responses PDE6H-related" RELATED [GARD:0010648] -synonym: "cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related" RELATED [OMIM:610024] -synonym: "RCD3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610024] -synonym: "retinal cone dystrophy 3" EXACT [OMIM:610024, OMIM:genemap2] -synonym: "retinal cone dystrophy 3A" EXACT [MONDO:Lexical, OMIM:610024] -synonym: "retinal cone dystrophy type 3A" EXACT [MONDORULE:4, OMIM:610024] +synonym: "cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related" RELATED [] +synonym: "RCD3A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "retinal cone dystrophy 3" EXACT [] +synonym: "retinal cone dystrophy 3A" EXACT [DOID:0081025, MONDO:Lexical, OMIM:610024] +synonym: "retinal cone dystrophy type 3A" EXACT [MONDORULE:4] xref: DOID:0081025 {source="MONDO:equivalentTo"} xref: GARD:10648 {source="MONDO:GARD"} xref: MEDGEN:355864 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -281753,14 +281802,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:300573"} subset: orphanet_rare {source="Orphanet:300573"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDCBM7" EXACT ABBREVIATION [DOID:0090132] +synonym: "CDCBM7" EXACT ABBREVIATION [DOID:0090132, OMIM:610031] synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B" EXACT [MONDO:design_pattern] -synonym: "complex cortical dysplasia with other brain malformations type 7" EXACT [DOID:0090132, MONDORULE:1] -synonym: "cortical dysplasia, COMPLEX, with OTHER brain malformations 7" RELATED [OMIM:610031] -synonym: "cortical dysplasia, Complex, with Other brain malformations 7" RELATED [OMIM:610031] -synonym: "PMGYSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610031] -synonym: "polymicrogyria due to TUBB2B mutation" EXACT [DOID:0090132] -synonym: "polymicrogyria, symmetric or asymmetric" RELATED [MONDO:Lexical, OMIM:610031] +synonym: "complex cortical dysplasia with other brain malformations type 7" EXACT [MONDORULE:1] +synonym: "cortical dysplasia, COMPLEX, with OTHER brain malformations 7" RELATED [] +synonym: "cortical dysplasia, Complex, with Other brain malformations 7" RELATED [] +synonym: "PMGYSA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "polymicrogyria due to TUBB2B mutation" EXACT [DOID:0090132, Orphanet:300573] +synonym: "polymicrogyria, symmetric or asymmetric" RELATED [MONDO:Lexical] synonym: "TUBB2B complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090132 {source="MONDO:equivalentTo"} xref: GARD:17375 {source="MONDO:GARD"} @@ -281791,12 +281840,12 @@ subset: ordo_disorder {source="Orphanet:163681"} subset: orphanet_rare {source="Orphanet:163681"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDFE syndrome" EXACT [DOID:0090130, OMIM:610042] -synonym: "CDFES" EXACT ABBREVIATION [DOID:0090130, MONDO:Lexical, OMIM:610042] -synonym: "cortical dysplasia-focal epilepsy syndrome" EXACT [MONDO:Lexical, OMIM:610042] -synonym: "Pitt-Hopkins like syndrome 1" EXACT [OMIM:610042, OMIM:genemap2] -synonym: "Pitt-Hopkins-like syndrome 1" RELATED [OMIM:610042] -synonym: "PTHSL1" RELATED ABBREVIATION [OMIM:610042] +synonym: "CDFE syndrome" EXACT [DOID:0090130, NCIT:C133743, OMIM:610042, Orphanet:163681] +synonym: "CDFES" EXACT ABBREVIATION [DOID:0090130, MONDO:Lexical, Orphanet:163681] +synonym: "cortical dysplasia-focal epilepsy syndrome" EXACT [DOID:0090130, MONDO:Lexical, NCIT:C133743, OMIM:610042, Orphanet:163681] +synonym: "Pitt-Hopkins like syndrome 1" EXACT [] +synonym: "Pitt-Hopkins-like syndrome 1" RELATED [] +synonym: "PTHSL1" RELATED ABBREVIATION [] xref: DOID:0090130 {source="MONDO:equivalentTo"} xref: GARD:16997 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:163681", source="DOID:0090130", source="Orphanet:163681/attributed", source="Orphanet:163681/ntbt"} @@ -281824,8 +281873,8 @@ subset: orphanet_rare {source="Orphanet:101068"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital hereditary stromal dystrophy" EXACT [DOID:0060445, Orphanet:101068] -synonym: "congenital stromal corneal dystrophy" EXACT [OMIM:610048] -synonym: "corneal dystrophy, congenital stromal" RELATED [MONDO:Lexical, OMIM:610048] +synonym: "congenital stromal corneal dystrophy" EXACT [DOID:0060445, icd11.foundation:1796933876, OMIM:610048, Orphanet:101068] +synonym: "corneal dystrophy, congenital stromal" RELATED [MONDO:Lexical] synonym: "CSCD" EXACT ABBREVIATION [DOID:0060445, MONDO:Lexical, OMIM:610048, Orphanet:101068] synonym: "Witschel dystrophy" EXACT [Orphanet:101068] xref: DOID:0060445 {source="MONDO:equivalentTo"} @@ -281848,9 +281897,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012402 name: opioid dependence, susceptibility to, 1 subset: predisposition -synonym: "Ods1" RELATED [OMIM:610064] +synonym: "Ods1" RELATED [] synonym: "opioid dependence, susceptibility to, 1" EXACT [OMIM:610064] -synonym: "opioid dependence, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:610064] +synonym: "opioid dependence, susceptibility to, type 1" EXACT [MONDORULE:1] xref: MEDGEN:400600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610064 {source="MONDO:equivalentTo"} xref: UMLS:C1864733 {source="MEDGEN:400600", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -281894,9 +281943,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BMPR1A hereditary mixed polyposis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary mixed polyposis syndrome caused by mutation in BMPR1A" EXACT [MONDO:design_pattern] -synonym: "HMPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610069] +synonym: "HMPS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "polyposis syndrome, hereditary mixed, 2" EXACT [MONDO:Lexical, OMIM:610069] -synonym: "polyposis syndrome, hereditary mixed, type 2" EXACT [MONDORULE:1, OMIM:610069] +synonym: "polyposis syndrome, hereditary mixed, type 2" EXACT [MONDORULE:1] xref: DOID:0111686 {source="MONDO:equivalentTo"} xref: GARD:18276 {source="MONDO:GARD"} xref: MEDGEN:350500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -281917,7 +281966,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "HRPT3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610071] synonym: "hyperparathyroidism 3" EXACT [MONDO:Lexical, OMIM:610071] -synonym: "hyperparathyroidism, familial isolated" RELATED [OMIM:610071] +synonym: "hyperparathyroidism, familial isolated" RELATED [] xref: GARD:18255 {source="MONDO:GARD"} xref: MEDGEN:355277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566450 {source="MONDO:equivalentTo"} @@ -281939,20 +281988,20 @@ subset: ordo_disorder {source="Orphanet:79096"} subset: orphanet_rare {source="Orphanet:79096"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epileptic encephalopathy, neonatal, Pnpo-related" RELATED [OMIM:610090] -synonym: "PNPO deficiency" EXACT [Orphanet:79096] -synonym: "Pnpo deficiency" RELATED [OMIM:610090] -synonym: "PNPO-related neonatal epileptic encephalopathy" EXACT [Orphanet:79096] -synonym: "PNPOD" RELATED ABBREVIATION [OMIM:610090] +synonym: "epileptic encephalopathy, neonatal, Pnpo-related" RELATED [] +synonym: "PNPO deficiency" EXACT [DOID:0111329, icd11.foundation:604024463, OMIM:610090, Orphanet:79096] +synonym: "Pnpo deficiency" RELATED [] +synonym: "PNPO-related neonatal epileptic encephalopathy" EXACT [DOID:0111329, Orphanet:79096] +synonym: "PNPOD" RELATED ABBREVIATION [] synonym: "pyridox(am)ine 5’-phosphate oxidase deficiency" EXACT [https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#pyridoxine] synonym: "pyridoxal 5'-phosphate-dependent epilepsy" RELATED [GARD:0010730] -synonym: "pyridoxal phosphate-dependent seizures" EXACT [Orphanet:79096] -synonym: "pyridoxamine 5'-oxidase deficiency" EXACT [Orphanet:79096] -synonym: "pyridoxamine 5'-phosphate oxidase deficiency" EXACT [Orphanet:79096] -synonym: "pyridoxamine 5-prime-phosphate oxidase deficiency" RELATED [OMIM:610090] +synonym: "pyridoxal phosphate-dependent seizures" EXACT [DOID:0111329, Orphanet:79096] +synonym: "pyridoxamine 5'-oxidase deficiency" EXACT [DOID:0111329, Orphanet:79096] +synonym: "pyridoxamine 5'-phosphate oxidase deficiency" EXACT [DOID:0111329, Orphanet:79096] +synonym: "pyridoxamine 5-prime-phosphate oxidase deficiency" RELATED [] synonym: "pyridoxine 5' phosphate oxidase deficiency" EXACT [https://orcid.org/0000-0001-5208-3432, https://www.epilepsydiagnosis.org/etiology/metabolic-groupoverview.html] synonym: "pyridoxine-5'-phosphate oxidase deficiency" RELATED [GARD:0010730] -synonym: "seizures, pyridoxine-resistant, PLP-sensitive" RELATED [OMIM:610090] +synonym: "seizures, pyridoxine-resistant, PLP-sensitive" RELATED [] xref: DOID:0111329 {source="MONDO:equivalentTo"} xref: GARD:10730 {source="MONDO:GARD"} xref: ICD10CM:G40.8 {source="Orphanet:79096", source="Orphanet:79096/attributed", source="Orphanet:79096/ntbt"} @@ -281979,13 +282028,13 @@ def: "Any microphthalmia, isolated, with coloboma in which the cause of the dise subset: gard_rare {source="GARD:15471", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCOPCB3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610092] -synonym: "microphthalmia with coloboma 3" EXACT [OMIM:610092, OMIM:genemap2] -synonym: "microphthalmia, cataracts, and iris abnormalities" RELATED [OMIM:610092] -synonym: "microphthalmia, colobomatous, isolated 3" RELATED [OMIM:610092] -synonym: "microphthalmia, isolated, with coloboma 3" EXACT [MONDO:Lexical, OMIM:610092] +synonym: "MCOPCB3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microphthalmia with coloboma 3" EXACT [] +synonym: "microphthalmia, cataracts, and iris abnormalities" RELATED [] +synonym: "microphthalmia, colobomatous, isolated 3" RELATED [] +synonym: "microphthalmia, isolated, with coloboma 3" EXACT [MONDO:Lexical] synonym: "microphthalmia, isolated, with coloboma caused by mutation in VSX2" EXACT [MONDO:design_pattern] -synonym: "microphthalmia, isolated, with coloboma type 3" EXACT [MONDORULE:1, OMIM:610092] +synonym: "microphthalmia, isolated, with coloboma type 3" EXACT [MONDORULE:1] synonym: "VSX2 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15471 {source="MONDO:GARD"} xref: MEDGEN:400598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -282006,12 +282055,12 @@ def: "Any isolated microphthalmia in which the cause of the disease is a mutatio subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anophthalmia, clinical, isolated" RELATED [OMIM:610093] +synonym: "anophthalmia, clinical, isolated" RELATED [] synonym: "isolated microphthalmia caused by mutation in VSX2" EXACT [MONDO:design_pattern] -synonym: "isolated microphthalmia type 2" EXACT [DOID:0060839, MONDORULE:1] +synonym: "isolated microphthalmia type 2" EXACT [MONDORULE:1] synonym: "MCOP2" EXACT ABBREVIATION [DOID:0060839, MONDO:Lexical, OMIM:610093] -synonym: "microphthalmia, isolated 2" RELATED [MONDO:Lexical, OMIM:610093] -synonym: "microphthalmia, isolated type 2" EXACT [MONDORULE:1, OMIM:610093] +synonym: "microphthalmia, isolated 2" RELATED [MONDO:Lexical] +synonym: "microphthalmia, isolated type 2" EXACT [MONDORULE:1] synonym: "VSX2 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060839 {source="MONDO:equivalentTo"} xref: ICD10CM:Q11.0 {source="DOID:0060839"} @@ -282035,9 +282084,9 @@ subset: ordo_disorder {source="Orphanet:399086"} subset: orphanet_rare {source="Orphanet:399086"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "distal myopathy type 3" EXACT [Orphanet:399086] -synonym: "MPD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610099, Orphanet:399086] -synonym: "myopathy, distal, 3" RELATED [MONDO:Lexical, OMIM:610099] +synonym: "distal myopathy type 3" EXACT [DOID:0111189, Orphanet:399086] +synonym: "MPD3" EXACT ABBREVIATION [DOID:0111189, MONDO:Lexical, OMIM:610099, Orphanet:399086] +synonym: "myopathy, distal, 3" RELATED [MONDO:Lexical] xref: DOID:0111189 {source="MONDO:equivalentTo"} xref: GARD:17652 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:399086/attributed", source="Orphanet:399086/ntbt", source="Orphanet:399086"} @@ -282059,14 +282108,14 @@ subset: ordo_disorder {source="Orphanet:401964"} subset: orphanet_rare {source="Orphanet:401964"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" RELATED [Orphanet:401964] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" RELATED [] synonym: "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" EXACT [Orphanet:401964] synonym: "CMT2 with giant axons" EXACT [Orphanet:401964] synonym: "DCAF8 giant axonal neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "GAN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610100] -synonym: "giant axonal neuropathy 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610100] +synonym: "GAN2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "giant axonal neuropathy 2, autosomal dominant" RELATED [MONDO:Lexical] synonym: "giant axonal neuropathy caused by mutation in DCAF8" EXACT [MONDO:design_pattern] -synonym: "giant axonal neuropathy type 2" EXACT [DOID:0090069, MONDORULE:1] +synonym: "giant axonal neuropathy type 2" EXACT [MONDORULE:1] synonym: "HMSN2 with giant axons" EXACT [Orphanet:401964] xref: DOID:0090069 {source="MONDO:equivalentTo"} xref: GARD:12447 {source="MONDO:GARD"} @@ -282088,10 +282137,10 @@ def: "Any classic complement early component deficiency in which the cause of th subset: gard_rare {source="GARD:18290", source="MONDO:GARD"} subset: rare synonym: "C7 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "C7 deficiency" RELATED [OMIM:610102] -synonym: "C7D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610102] +synonym: "C7 deficiency" RELATED [] +synonym: "C7D" RELATED ABBREVIATION [MONDO:Lexical] synonym: "classic complement early component deficiency caused by mutation in C7" EXACT [MONDO:design_pattern] -synonym: "complement component 7 deficiency" EXACT [MONDO:Lexical, OMIM:610102] +synonym: "complement component 7 deficiency" EXACT [DOID:0060300, MONDO:Lexical, OMIM:610102] xref: DOID:0060300 {source="MONDO:equivalentTo"} xref: GARD:18290 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="DOID:0060300"} @@ -282119,16 +282168,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:178364"} subset: orphanet_rare {source="Orphanet:178364"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MCOPS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610125, Orphanet:178364] +synonym: "MCOPS5" EXACT ABBREVIATION [DOID:0111806, MONDO:Lexical, OMIM:610125, Orphanet:178364] synonym: "microphthalmia syndromic 5" RELATED [GARD:0003692] -synonym: "microphthalmia, syndromic 5" RELATED [MONDO:Lexical, OMIM:610125] -synonym: "microphthalmia, syndromic type 5" EXACT [MONDORULE:1, OMIM:610125] +synonym: "microphthalmia, syndromic 5" RELATED [MONDO:Lexical] +synonym: "microphthalmia, syndromic type 5" EXACT [MONDORULE:1] synonym: "OTX2 syndromic microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OTX2-related eye disorders" RELATED [GARD:0003692] -synonym: "retinal dystrophy, early-onset, with or without pituitary dysfunction" RELATED [OMIM:610125] +synonym: "retinal dystrophy, early-onset, with or without pituitary dysfunction" RELATED [] synonym: "syndromic microphthalmia caused by mutation in OTX2" EXACT [MONDO:design_pattern] -synonym: "syndromic microphthalmia type 5" EXACT CLINGEN_LABEL [] -synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT [Orphanet:178364] +synonym: "syndromic microphthalmia type 5" EXACT CLINGEN_LABEL [DOID:0111806, Orphanet:178364] +synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT [DOID:0111806, Orphanet:178364] xref: DOID:0111806 {source="MONDO:equivalentTo"} xref: GARD:3692 {source="MONDO:GARD"} xref: ICD10CM:Q11.2 {source="Orphanet:178364", source="Orphanet:178364/attributed", source="Orphanet:178364/ntbt"} @@ -282154,13 +282203,13 @@ subset: ordo_etiological_subtype {source="Orphanet:228337"} subset: orphanet_rare {source="Orphanet:228337"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cathepsin D deficiency" EXACT [DOID:0110725, Orphanet:228337] +synonym: "Cathepsin D deficiency" EXACT [DOID:0110725] synonym: "ceroid lipofuscinosis neuronal Cathepsin D-deficient" RELATED [GARD:0001218] -synonym: "ceroid lipofuscinosis, neuronal, 10" RELATED [MONDO:Lexical, OMIM:610127] -synonym: "ceroid lipofuscinosis, neuronal, Cathepsin D-deficient" RELATED [OMIM:610127] -synonym: "ceroid lipofuscinosis, neuronal, type 10" EXACT [MONDORULE:2, OMIM:610127] +synonym: "ceroid lipofuscinosis, neuronal, 10" RELATED [MONDO:Lexical] +synonym: "ceroid lipofuscinosis, neuronal, Cathepsin D-deficient" RELATED [] +synonym: "ceroid lipofuscinosis, neuronal, type 10" EXACT [MONDORULE:2] synonym: "CLN10" EXACT ABBREVIATION [DOID:0110725, MONDO:Lexical, OMIM:610127] -synonym: "CLN10 disease" RELATED [Orphanet:228337] +synonym: "CLN10 disease" RELATED [] synonym: "CLN10 disease, adult (subtype)" RELATED [GARD:0001218] synonym: "CLN10 disease, congenital (subtype)" RELATED [GARD:0001218] synonym: "CLN10 disease, juvenile (subtype)" RELATED [GARD:0001218] @@ -282169,10 +282218,10 @@ synonym: "CLN10-NCL" EXACT ABBREVIATION [GARD:0001218] synonym: "CTSD neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuronal ceroid lipofuscinosis cathepsin D-deficient" EXACT [DOID:0110725] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSD" EXACT [MONDO:design_pattern] -synonym: "neuronal ceroid lipofuscinosis due to Cathepsin D deficiency" RELATED [OMIM:610127] -synonym: "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT [DOID:0110725] -synonym: "neuronal ceroid lipofuscinosis type 10" EXACT [DOID:0110725, MONDORULE:2] -synonym: "neuronal ceroid lipofuscinosis, congenital" RELATED [OMIM:610127] +synonym: "neuronal ceroid lipofuscinosis due to Cathepsin D deficiency" RELATED [] +synonym: "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT [DOID:0110725, OMIM:610127] +synonym: "neuronal ceroid lipofuscinosis type 10" EXACT [MONDORULE:2] +synonym: "neuronal ceroid lipofuscinosis, congenital" RELATED [] xref: DOID:0110725 {source="MONDO:equivalentTo"} xref: GARD:1218 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="Orphanet:228337", source="DOID:0110725", source="Orphanet:228337/attributed", source="Orphanet:228337/ntbt"} @@ -282202,12 +282251,12 @@ name: progressive external ophthalmoplegia with mitochondrial DNA deletions, aut def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16500", source="MONDO:GARD"} subset: rare -synonym: "PEOA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610131] +synonym: "PEOA4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4" EXACT [MONDO:Lexical, OMIM:610131] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4" EXACT [MONDORULE:1, OMIM:610131] -synonym: "progressive external ophthalmoplegia, autosomal dominant 4" RELATED [OMIM:610131] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4" EXACT [MONDORULE:1] +synonym: "progressive external ophthalmoplegia, autosomal dominant 4" RELATED [] xref: DOID:0111525 {source="MONDO:equivalentTo"} xref: GARD:16500 {source="MONDO:GARD"} xref: MEDGEN:350480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -282247,7 +282296,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atriodigital dysplasia, Slovenian type" EXACT [Orphanet:168796] synonym: "Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome" EXACT [Orphanet:168796] -synonym: "heart-hand syndrome, Slovenian type" EXACT [OMIM:610140] +synonym: "heart-hand syndrome, Slovenian type" EXACT [icd11.foundation:1814304618, OMIM:610140, Orphanet:168796] xref: GARD:9846 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:168796", source="Orphanet:168796/attributed", source="Orphanet:168796/ntbt"} xref: icd11.foundation:1814304618 {source="MONDO:equivalentTo"} @@ -282271,11 +282320,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22618", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 62" NARROW [DOID:0110514] -synonym: "autosomal recessive nonsyndromic deafness 62" NARROW [OMIM:610143] -synonym: "autosomal recessive nonsyndromic deafness type 62" NARROW [DOID:0110514, MONDORULE:2] -synonym: "deafness, autosomal recessive 62" NARROW [MONDO:Lexical, OMIM:610143, OMIM:genemap2] -synonym: "DFNB62" NARROW ABBREVIATION [DOID:0110514, MONDO:Lexical, OMIM:610143] +synonym: "autosomal recessive deafness 62" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 62" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 62" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 62" NARROW [MONDO:Lexical] +synonym: "DFNB62" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110514 {source="MONDO:equivalentTo"} xref: GARD:22618 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110514"} @@ -282294,15 +282343,15 @@ def: "Any age-related macular degeneration in which the cause of the disease is subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "age related macular degeneration type 7" EXACT [DOID:0110019, MONDORULE:1] +synonym: "age related macular degeneration type 7" EXACT [MONDORULE:1] synonym: "age-related macular degeneration caused by mutation in HTRA1" EXACT [MONDO:design_pattern] synonym: "ARMD7" EXACT ABBREVIATION [DOID:0110019, MONDO:Lexical, OMIM:610149] synonym: "HTRA1 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "macular degeneration, age-related, 7" RELATED [MONDO:Lexical, OMIM:610149] -synonym: "macular degeneration, age-related, neovascular type" EXACT [OMIM:610149, OMIM:genemap2] -synonym: "macular Degeneration, age-related, neovascular type, susceptibility to" RELATED [OMIM:610149] -synonym: "macular Degeneration, age-related, type 7" EXACT [MONDORULE:1, OMIM:610149] -synonym: "macular Degeneration, age-related, wet type, susceptibility to" RELATED [OMIM:610149] +synonym: "macular degeneration, age-related, 7" RELATED [MONDO:Lexical] +synonym: "macular degeneration, age-related, neovascular type" EXACT [] +synonym: "macular Degeneration, age-related, neovascular type, susceptibility to" RELATED [] +synonym: "macular Degeneration, age-related, type 7" EXACT [MONDORULE:1] +synonym: "macular Degeneration, age-related, wet type, susceptibility to" RELATED [] xref: DOID:0110019 {source="MONDO:equivalentTo"} xref: MEDGEN:347554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565718 {source="MONDO:equivalentTo"} @@ -282322,14 +282371,14 @@ def: "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, subset: gard_rare {source="GARD:22619", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 49" NARROW [DOID:0110506] -synonym: "autosomal recessive nonsyndromic deafness 49" NARROW [OMIM:610153] +synonym: "autosomal recessive deafness 49" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 49" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 49" NARROW [DOID:0110506, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 49" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 49" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 49" NARROW [MONDO:Lexical, OMIM:610153, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 49" NARROW [MONDORULE:2, OMIM:610153] -synonym: "DFNB49" NARROW ABBREVIATION [DOID:0110506, MONDO:Lexical, OMIM:610153] +synonym: "deafness, autosomal recessive 49" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 49" NARROW [MONDORULE:2] +synonym: "DFNB49" NARROW ABBREVIATION [MONDO:Lexical] synonym: "MARVELD2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110506 {source="MONDO:equivalentTo"} xref: GARD:22619 {source="MONDO:GARD"} @@ -282354,13 +282403,13 @@ subset: gard_rare {source="GARD:22620", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADCY1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "autosomal recessive deafness 44" NARROW [DOID:0110501] -synonym: "autosomal recessive nonsyndromic deafness 44" NARROW [OMIM:610154] +synonym: "autosomal recessive deafness 44" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 44" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ADCY1" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 44" NARROW [DOID:0110501, MONDORULE:2] -synonym: "deafness, autosomal recessive 44" NARROW [MONDO:Lexical, OMIM:610154, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 44" NARROW [MONDORULE:2, OMIM:610154] -synonym: "DFNB44" NARROW ABBREVIATION [DOID:0110501, MONDO:Lexical, OMIM:610154] +synonym: "autosomal recessive nonsyndromic deafness type 44" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 44" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 44" NARROW [MONDORULE:2] +synonym: "DFNB44" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110501 {source="MONDO:equivalentTo"} xref: GARD:22620 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110501"} @@ -282379,8 +282428,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012422 name: type 1 diabetes mellitus 19 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3." [DOID:0110756, MONDO:patterns/inherited_susceptibility, PMID:16699517] -synonym: "diabetes mellitus, insulin-dependent, 19" RELATED [MONDO:Lexical, OMIM:610155] -synonym: "IDDM19" EXACT ABBREVIATION [DOID:0110756, MONDO:Lexical, OMIM:610155] +synonym: "diabetes mellitus, insulin-dependent, 19" RELATED [MONDO:Lexical] +synonym: "IDDM19" EXACT ABBREVIATION [DOID:0110756, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 19" EXACT [DOID:0110756] xref: DOID:0110756 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110756"} @@ -282406,14 +282455,14 @@ subset: orphanet_rare {source="Orphanet:75858"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "intellectual disability, truncal obesity, retinal dystrophy and micropenis" RELATED [GARD:0010121] -synonym: "intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome" RELATED [MONDO:Lexical, OMIM:610156] +synonym: "intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome" RELATED [MONDO:Lexical] synonym: "intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome" EXACT [Orphanet:75858] synonym: "mental retardation, truncal obesity, retinal dystrophy and micropenis" RELATED DEPRECATED [GARD:0010121] -synonym: "mental retardation, truncal obesity, retinal dystrophy, and micropenis" EXACT [OMIM:610156, OMIM:genemap2] -synonym: "mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:610156] -synonym: "mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome" EXACT DEPRECATED [Orphanet:75858] -synonym: "MORM syndrome" EXACT [OMIM:610156] -synonym: "MORMS" RELATED DEPRECATED [MONDO:Lexical, OMIM:610156] +synonym: "mental retardation, truncal obesity, retinal dystrophy, and micropenis" EXACT [] +synonym: "mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome" EXACT DEPRECATED [] +synonym: "MORM syndrome" EXACT [icd11.foundation:1027545274, OMIM:610156, Orphanet:75858] +synonym: "MORMS" RELATED DEPRECATED [MONDO:Lexical] xref: GARD:10121 {source="MONDO:GARD"} xref: icd11.foundation:1027545274 {source="MONDO:equivalentTo"} xref: MEDGEN:341851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -282433,9 +282482,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10121/morm-s id: MONDO:0012424 name: obsolete heat-shock RNA 1 comment: This is a gene, not a disease. -synonym: "heat-shock RNA 1" EXACT [OMIM:610157] -synonym: "heat-shock RNA type 1" EXACT [MONDORULE:1, OMIM:610157] -synonym: "Hsr1" RELATED [OMIM:610157] +synonym: "heat-shock RNA 1" EXACT [] +synonym: "heat-shock RNA type 1" EXACT [MONDORULE:1] +synonym: "Hsr1" RELATED [] xref: OMIM:610157 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1452" xsd:anyURI is_obsolete: true @@ -282446,9 +282495,9 @@ name: corneal dystrophy, fuchs endothelial, 2 subset: gard_rare {source="GARD:18217", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "corneal dystrophy, Fuchs endothelial, 2" RELATED [MONDO:Lexical, OMIM:610158] -synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:610158] -synonym: "Fcd1 locus" RELATED [OMIM:610158] +synonym: "corneal dystrophy, Fuchs endothelial, 2" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [] +synonym: "Fcd1 locus" RELATED [] synonym: "FECD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610158] xref: GARD:18217 {source="MONDO:GARD"} xref: MEDGEN:347552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -282468,11 +282517,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CD247 severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "CD3zeta deficiency" EXACT [MONDO:0000571] -synonym: "IMD25" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610163] -synonym: "immunodeficiency 25" EXACT [MONDO:Lexical, OMIM:610163] -synonym: "immunodeficiency due to defect in CD3-zeta" RELATED [OMIM:610163] -synonym: "immunodeficiency type 25" EXACT [MONDORULE:2, OMIM:610163] +synonym: "CD3zeta deficiency" EXACT [DOID:0060007, MONDO:0000571] +synonym: "IMD25" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 25" EXACT [DOID:0111942, MONDO:Lexical, OMIM:610163] +synonym: "immunodeficiency due to defect in CD3-zeta" RELATED [] +synonym: "immunodeficiency type 25" EXACT [MONDORULE:2] synonym: "severe combined immunodeficiency (disease) caused by mutation in CD247" EXACT [] xref: DOID:0060007 {source="MONDO:equivalentTo"} xref: DOID:0111942 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -282498,14 +282547,14 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:10586", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aortic aneurysm, familial thoracic 3" RELATED [OMIM:610168] -synonym: "LDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610168] -synonym: "Loeys-Dietz syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610168] +synonym: "aortic aneurysm, familial thoracic 3" RELATED [] +synonym: "LDS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Loeys-Dietz syndrome 2" EXACT CLINGEN_LABEL [DOID:0070234, MONDO:Lexical, OMIM:610168] synonym: "Loeys-Dietz syndrome caused by mutation in TGFBR2" EXACT [MONDO:design_pattern] -synonym: "Loeys-Dietz syndrome type 2" EXACT [MONDORULE:1, OMIM:610168] +synonym: "Loeys-Dietz syndrome type 2" EXACT [MONDORULE:1, NCIT:C114768] synonym: "Loeys-Dietz syndrome type II" EXACT [NCIT:C114768] -synonym: "Marfan syndrome, type II" RELATED [OMIM:610168] -synonym: "Marfan syndrome, type II, formerly" RELATED [OMIM:610168] +synonym: "Marfan syndrome, type II" RELATED [] +synonym: "Marfan syndrome, type II, formerly" RELATED [] synonym: "TGFBR2 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070234 {source="MONDO:equivalentTo"} xref: GARD:10586 {source="MONDO:GARD"} @@ -282544,10 +282593,10 @@ def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a muta subset: gard_rare {source="GARD:15472", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AGS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610181] -synonym: "Aicardi-Goutieres syndrome 2" EXACT [MONDO:Lexical, OMIM:610181] +synonym: "AGS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Aicardi-Goutieres syndrome 2" EXACT [MONDO:Lexical, NCIT:C165673, OMIM:610181] synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2B" EXACT [MONDO:design_pattern] -synonym: "Aicardi-Goutieres syndrome type 2" EXACT [MONDORULE:1, OMIM:610181] +synonym: "Aicardi-Goutieres syndrome type 2" EXACT [MONDORULE:1] synonym: "RNASEH2B Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RNASEH2B-related Aicardi-Goutieres syndrome" RELATED [GARD:0010894] xref: GARD:15472 {source="MONDO:GARD"} @@ -282573,13 +282622,13 @@ def: "Any dysequilibrium syndrome in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15473", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CAMRQ2" RELATED DEPRECATED [MONDO:Lexical, OMIM:610185] -synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2" RELATED [OMIM:610185] -synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2" RELATED DEPRECATED [OMIM:610185] -synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2" EXACT [MONDO:Lexical, OMIM:610185] -synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2" EXACT [MONDORULE:1, OMIM:610185] -synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" EXACT DEPRECATED [MONDO:Lexical, OMIM:610185] -synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:610185] +synonym: "CAMRQ2" RELATED DEPRECATED [MONDO:Lexical] +synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2" RELATED [] +synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2" RELATED DEPRECATED [] +synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2" EXACT [MONDO:Lexical] +synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2" EXACT [MONDORULE:1] +synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" EXACT DEPRECATED [DOID:0070557, MONDO:Lexical, OMIM:610185] +synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2" EXACT DEPRECATED [MONDORULE:1] synonym: "dysequilibrium syndrome caused by mutation in WDR81" EXACT [MONDO:design_pattern] synonym: "WDR81 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070557 {source="MONDO:equivalentTo"} @@ -282603,8 +282652,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital diaphragmatic hernia caused by mutation in ZFPM2" EXACT [MONDO:design_pattern] synonym: "diaphragmatic hernia 3" EXACT [MONDO:Lexical, OMIM:610187] -synonym: "diaphragmatic hernia type 3" EXACT [MONDORULE:1, OMIM:610187] -synonym: "DIH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610187] +synonym: "diaphragmatic hernia type 3" EXACT [MONDORULE:1] +synonym: "DIH3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ZFPM2 congenital diaphragmatic hernia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15474 {source="MONDO:GARD"} xref: MEDGEN:347546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -282626,9 +282675,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEP290 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS5" EXACT ABBREVIATION [DOID:0111000, MONDO:Lexical, OMIM:610188] -synonym: "Joubert syndrome 5" EXACT [MONDO:Lexical, OMIM:610188] +synonym: "Joubert syndrome 5" EXACT [DOID:0111000, MONDO:Lexical, OMIM:610188] synonym: "Joubert syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 5" EXACT [DOID:0111000, MONDORULE:1, OMIM:610188] +synonym: "Joubert syndrome type 5" EXACT [MONDORULE:1] xref: DOID:0111000 {source="MONDO:equivalentTo"} xref: GARD:15475 {source="MONDO:GARD"} xref: MEDGEN:347545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -282651,11 +282700,11 @@ subset: gard_rare {source="GARD:15476", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEP290 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SENIOR-Loken syndrome 6" RELATED [OMIM:610189] +synonym: "SENIOR-Loken syndrome 6" RELATED [] synonym: "Senior-Loken syndrome 6" EXACT [MONDO:Lexical, OMIM:610189] synonym: "Senior-Loken syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern] -synonym: "Senior-Loken syndrome type 6" EXACT [MONDORULE:1, OMIM:610189] -synonym: "SLSN6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610189] +synonym: "Senior-Loken syndrome type 6" EXACT [MONDORULE:1] +synonym: "SLSN6" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15476 {source="MONDO:GARD"} xref: MEDGEN:387907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565708 {source="MONDO:equivalentTo"} @@ -282678,10 +282727,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arrhythmogenic right ventricular cardiomyopathy 10" EXACT [DOID:0110081, OMIM:610193] synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2" EXACT [MONDO:design_pattern] -synonym: "arrhythmogenic right ventricular dysplasia 10" EXACT CLINGEN_LABEL [] -synonym: "arrhythmogenic right ventricular dysplasia type 10" EXACT [DOID:0110081, MONDORULE:2] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 10" RELATED [MONDO:Lexical, OMIM:610193] -synonym: "arrhythmogenic right ventricular dysplasia, familial, type 10" EXACT [MONDORULE:2, OMIM:610193] +synonym: "arrhythmogenic right ventricular dysplasia 10" EXACT CLINGEN_LABEL [DOID:0110081] +synonym: "arrhythmogenic right ventricular dysplasia type 10" EXACT [MONDORULE:2] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 10" RELATED [MONDO:Lexical] +synonym: "arrhythmogenic right ventricular dysplasia, familial, type 10" EXACT [MONDORULE:2] synonym: "ARVC10" EXACT ABBREVIATION [DOID:0110081] synonym: "ARVD10" EXACT ABBREVIATION [DOID:0110081, MONDO:Lexical, OMIM:610193] synonym: "DSG2 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -282715,20 +282764,20 @@ subset: rare synonym: "3 alpha methylglutaconic aciduria type V" RELATED [GARD:0010344] synonym: "3 methylglutaconic aciduria type V" RELATED [GARD:0010344] synonym: "3-methylglutaconic aciduria caused by mutation in DNAJC19" EXACT [MONDO:design_pattern] -synonym: "3-methylglutaconic aciduria type 5" EXACT CLINGEN_LABEL [Orphanet:66634] -synonym: "3-methylglutaconic aciduria type V" EXACT [DOID:0110000] -synonym: "3-Methylglutaconic aciduria, type 5" RELATED [OMIM:610198] -synonym: "3-METHYLGLUTACONIC aciduria, type V" RELATED [MONDO:Lexical, OMIM:610198] -synonym: "cardiomyopathy, dilated, with ataxia" RELATED [OMIM:610198] -synonym: "DCMA" EXACT ABBREVIATION [DOID:0110000] +synonym: "3-methylglutaconic aciduria type 5" EXACT CLINGEN_LABEL [DOID:0110000, icd11.foundation:422277813, NCIT:C173146, Orphanet:66634] +synonym: "3-methylglutaconic aciduria type V" EXACT [DOID:0110000, NCIT:C173146] +synonym: "3-Methylglutaconic aciduria, type 5" RELATED [] +synonym: "3-METHYLGLUTACONIC aciduria, type V" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, with ataxia" RELATED [] +synonym: "DCMA" EXACT ABBREVIATION [DOID:0110000, NCIT:C173146] synonym: "DCMA syndrome" EXACT [DOID:0110000, Orphanet:66634] -synonym: "dilated cardiomyopathy with ataxia" EXACT [DOID:0110000] +synonym: "dilated cardiomyopathy with ataxia" EXACT [DOID:0110000, icd11.foundation:422277813, NCIT:C173146, Orphanet:66634] synonym: "DNAJC19 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MGA 5" RELATED [GARD:0010344] synonym: "MGA V" RELATED [GARD:0010344] -synonym: "Mga, type 5" RELATED [OMIM:610198] +synonym: "Mga, type 5" RELATED [] synonym: "MGA5" EXACT ABBREVIATION [DOID:0110000, Orphanet:66634] -synonym: "MGCA5" EXACT ABBREVIATION [DOID:0110000, MONDO:Lexical, OMIM:610198] +synonym: "MGCA5" EXACT ABBREVIATION [DOID:0110000, MONDO:Lexical, NCIT:C173146, OMIM:610198] xref: DOID:0110000 {source="MONDO:equivalentTo"} xref: GARD:12964 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:66634", source="Orphanet:66634/attributed", source="Orphanet:66634/ntbt", source="DOID:0110000"} @@ -282759,12 +282808,12 @@ subset: ordo_disorder {source="Orphanet:79118"} subset: orphanet_rare {source="Orphanet:79118"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diabetes mellitus, neonatal, with congenital hypothyroidism" RELATED [OMIM:610199] -synonym: "NDH" RELATED ABBREVIATION [OMIM:610199] -synonym: "NDH syndrome" EXACT [DOID:0060638] -synonym: "Ndh syndrome" RELATED [OMIM:610199] -synonym: "neonatal diabetes mellitus with congenital hypothyroidism" EXACT CLINGEN_LABEL [] -synonym: "neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome" RELATED [Orphanet:79118] +synonym: "diabetes mellitus, neonatal, with congenital hypothyroidism" RELATED [] +synonym: "NDH" RELATED ABBREVIATION [] +synonym: "NDH syndrome" EXACT [DOID:0060638, OMIM:610199] +synonym: "Ndh syndrome" RELATED [] +synonym: "neonatal diabetes mellitus with congenital hypothyroidism" EXACT CLINGEN_LABEL [DOID:0060638] +synonym: "neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome" RELATED [] xref: DOID:0060638 {source="MONDO:equivalentTo"} xref: GARD:16699 {source="MONDO:GARD"} xref: MEDGEN:347541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -282786,10 +282835,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cataract 21 multiple types with or without microcornea" EXACT [DOID:0110256] -synonym: "cataract 21, multiple types" RELATED [MONDO:Lexical, OMIM:610202] -synonym: "cataract 21, multiple types, with or without microcornea" RELATED [OMIM:610202] -synonym: "cataract, congenital, cerulean type, 4" RELATED [OMIM:610202] -synonym: "cataract, pulverulent, juvenile-onset" RELATED [OMIM:610202] +synonym: "cataract 21, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract 21, multiple types, with or without microcornea" RELATED [] +synonym: "cataract, congenital, cerulean type, 4" RELATED [] +synonym: "cataract, pulverulent, juvenile-onset" RELATED [] synonym: "CCA4" NARROW ABBREVIATION [DOID:0110256] synonym: "congenital cataract cerulean type 4" NARROW [DOID:0110256] synonym: "CTRCT21" EXACT ABBREVIATION [DOID:0110256, MONDO:Lexical, OMIM:610202] @@ -282820,11 +282869,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:166068"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fetal-onset olivopontocerebellar hypoplasia" EXACT [Orphanet:166068] +synonym: "fetal-onset olivopontocerebellar hypoplasia" EXACT [] synonym: "olivopontocerebellar hypoplasia fetal-onset" RELATED [GARD:0010709] -synonym: "olivopontocerebellar hypoplasia, fetal-onset" RELATED [OMIM:610204] -synonym: "PCH5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610204, Orphanet:166068] -synonym: "pontocerebellar hypoplasia, type 5" RELATED [MONDO:Lexical, OMIM:610204] +synonym: "olivopontocerebellar hypoplasia, fetal-onset" RELATED [] +synonym: "PCH5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610204] +synonym: "pontocerebellar hypoplasia, type 5" RELATED [MONDO:Lexical] xref: DOID:0060274 {source="MONDO:equivalentTo"} xref: GARD:10709 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:166068", source="Orphanet:166068/attributed", source="Orphanet:166068/ntbt"} @@ -282848,11 +282897,11 @@ subset: ordo_etiological_subtype {source="Orphanet:261629"} subset: ordo_subtype_of_a_disorder {source="Orphanet:261629"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alagille syndrome 2" RELATED [MONDO:Lexical, OMIM:610205] -synonym: "Alagille syndrome due to a NOTCH2 point mutation" EXACT CLINGEN_LABEL [] -synonym: "Alagille syndrome type 2" EXACT [MONDORULE:1, OMIM:610205] +synonym: "Alagille syndrome 2" RELATED [MONDO:Lexical] +synonym: "Alagille syndrome due to a NOTCH2 point mutation" EXACT CLINGEN_LABEL [Orphanet:261629] +synonym: "Alagille syndrome type 2" EXACT [MONDORULE:1] synonym: "Alagille-Watson syndrome due to a NOTCH2 point mutation" EXACT [Orphanet:261629] -synonym: "ALGS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610205] +synonym: "ALGS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Arteriohepatic dysplasia due to a NOTCH2 point mutation" EXACT [Orphanet:261629] synonym: "syndromic bile duct paucity due to a NOTCH2 point mutation" EXACT [Orphanet:261629] xref: GARD:17252 {source="MONDO:GARD"} @@ -282870,10 +282919,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012440 name: migraine with or without aura, susceptibility to, 10 subset: predisposition -synonym: "Mgr10" RELATED [OMIM:610208] +synonym: "Mgr10" RELATED [] synonym: "migraine with or without aura, susceptibility to, 10" EXACT [OMIM:610208] -synonym: "migraine with or without aura, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:610208] -synonym: "migraine with pulsation" RELATED [OMIM:610208] +synonym: "migraine with or without aura, susceptibility to, type 10" EXACT [MONDORULE:2] +synonym: "migraine with pulsation" RELATED [] xref: MEDGEN:341839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610208 {source="MONDO:equivalentTo"} xref: UMLS:C1857752 {source="MEDGEN:341839", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -282883,9 +282932,9 @@ is_a: MONDO:0100246 {source="DC-OMIM:610208", source="OMIM:610208"} ! migraine w id: MONDO:0012441 name: migraine with or without aura, susceptibility to, 11 subset: predisposition -synonym: "Mgr11" RELATED [OMIM:610209] +synonym: "Mgr11" RELATED [] synonym: "migraine with or without aura, susceptibility to, 11" EXACT [OMIM:610209] -synonym: "migraine with or without aura, susceptibility to, type 11" EXACT [MONDORULE:2, OMIM:610209] +synonym: "migraine with or without aura, susceptibility to, type 11" EXACT [MONDORULE:2] xref: MEDGEN:387900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610209 {source="MONDO:equivalentTo"} xref: UMLS:C1857751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:387900"} @@ -282898,14 +282947,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22621", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 66" NARROW [DOID:0110517] -synonym: "autosomal recessive nonsyndromic deafness 66" NARROW [OMIM:610212] +synonym: "autosomal recessive deafness 66" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 66" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in DCDC2" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 66" NARROW [DOID:0110517, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 66" NARROW [MONDORULE:2] synonym: "DCDC2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 66" NARROW [MONDO:Lexical, OMIM:610212, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 66" NARROW [MONDORULE:2, OMIM:610212] -synonym: "DFNB66" NARROW ABBREVIATION [DOID:0110517, MONDO:Lexical, OMIM:610212] +synonym: "deafness, autosomal recessive 66" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 66" NARROW [MONDORULE:2] +synonym: "DFNB66" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110517 {source="MONDO:equivalentTo"} xref: GARD:22621 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110517"} @@ -282926,7 +282975,7 @@ name: aneurysm, intracranial berry, 4 subset: gard_rare {source="GARD:18323", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, intracranial BERRY, 4" RELATED [MONDO:Lexical, OMIM:610213] +synonym: "aneurysm, intracranial BERRY, 4" RELATED [MONDO:Lexical] synonym: "ANIB4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610213] xref: DOID:0080967 {source="MONDO:equivalentTo"} xref: GARD:18323 {source="MONDO:GARD"} @@ -282945,15 +282994,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "atypical neuroaxonal dystrophy" RELATED [GARD:0010688] synonym: "early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline" RELATED [GARD:0010688] -synonym: "Karak syndrome" RELATED [OMIM:610217] -synonym: "NBIA2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610217] -synonym: "NBIA2b" EXACT [DOID:0110736] +synonym: "Karak syndrome" RELATED [] +synonym: "NBIA2B" EXACT ABBREVIATION [OMIM:610217] +synonym: "NBIA2b" EXACT ABBREVIATION [DOID:0110736] synonym: "neuroaxonal dystrophy, atypical" EXACT [DOID:0110736, OMIM:610217] -synonym: "neurodegeneration with brain iron accumulation 2B" EXACT [MONDO:Lexical, OMIM:610217] -synonym: "neurodegeneration with brain iron accumulation type 2B" EXACT [MONDORULE:4, OMIM:610217] -synonym: "neurodegeneration with brain iron accumulation type 2b" EXACT [DOID:0110736, MONDORULE:4] -synonym: "neurodegeneration with brain iron accumulation, Pla2G6-related" RELATED [OMIM:610217] -synonym: "neurodegeneration with brain iron accumulation, Pla2g6-related" EXACT [DOID:0110736] +synonym: "neurodegeneration with brain iron accumulation 2B" EXACT [DOID:0110736, MONDO:Lexical, OMIM:610217] +synonym: "neurodegeneration with brain iron accumulation type 2B" EXACT [MONDORULE:4] +synonym: "neurodegeneration with brain iron accumulation type 2b" EXACT [MONDORULE:4] +synonym: "neurodegeneration with brain iron accumulation, Pla2G6-related" RELATED [] +synonym: "neurodegeneration with brain iron accumulation, Pla2g6-related" EXACT [DOID:0110736, OMIM:610217] xref: DOID:0110736 {source="MONDO:equivalentTo"} xref: GARD:10688 {source="MONDO:GARD"} xref: ICD10CM:G23.0 {source="DOID:0110736"} @@ -282972,14 +283021,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22622", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 59" NARROW [DOID:0110511] -synonym: "autosomal recessive nonsyndromic deafness 59" NARROW [OMIM:610220] +synonym: "autosomal recessive deafness 59" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 59" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PJVK" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 59" NARROW [DOID:0110511, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 59" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 59" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 59" NARROW [MONDO:Lexical, OMIM:610220, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 59" NARROW [MONDORULE:2, OMIM:610220] -synonym: "DFNB59" NARROW ABBREVIATION [DOID:0110511, MONDO:Lexical, OMIM:610220] +synonym: "deafness, autosomal recessive 59" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 59" NARROW [MONDORULE:2] +synonym: "DFNB59" NARROW ABBREVIATION [MONDO:Lexical] synonym: "PJVK autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110511 {source="MONDO:equivalentTo"} xref: GARD:22622 {source="MONDO:GARD"} @@ -283004,7 +283053,7 @@ subset: ordo_disorder {source="Orphanet:168606"} subset: orphanet_rare {source="Orphanet:168606"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "seborrhea-like dermatitis with psoriasiform elements" EXACT [OMIM:610227] +synonym: "seborrhea-like dermatitis with psoriasiform elements" EXACT [OMIM:610227, Orphanet:168606] xref: GARD:17039 {source="MONDO:GARD"} xref: MEDGEN:342832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565217 {source="MONDO:equivalentTo"} @@ -283025,7 +283074,7 @@ synonym: "SD2, Malik type" EXACT [Orphanet:295199] synonym: "SD2c" EXACT [Orphanet:295199] synonym: "SPD, Malik type" EXACT [Orphanet:295199] synonym: "SPD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610234, Orphanet:295199] -synonym: "synpolydactyly 3" RELATED [MONDO:Lexical, OMIM:610234] +synonym: "synpolydactyly 3" RELATED [MONDO:Lexical] synonym: "synpolydactyly, Malik type" EXACT [Orphanet:295199] xref: GARD:17360 {source="MONDO:GARD"} xref: ICD10CM:Q70.0 {source="Orphanet:295199/attributed", source="Orphanet:295199", source="Orphanet:295199/nd"} @@ -283050,8 +283099,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 33" EXACT [DOID:0110784] synonym: "hereditary spastic paraplegia caused by mutation in ZFYVE27" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 33" EXACT [DOID:0110784, MONDORULE:2] -synonym: "spastic paraplegia 33, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610244] +synonym: "hereditary spastic paraplegia type 33" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 33, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG33" EXACT ABBREVIATION [DOID:0110784, MONDO:Lexical, OMIM:610244] synonym: "ZFYVE27 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110784 {source="MONDO:equivalentTo"} @@ -283076,8 +283125,8 @@ subset: orphanet_rare {source="Orphanet:101108"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610245, Orphanet:101108] -synonym: "spinocerebellar ataxia 23" RELATED [MONDO:Lexical, OMIM:610245] -synonym: "spinocerebellar ataxia type 23" EXACT [MONDORULE:2, OMIM:610245] +synonym: "spinocerebellar ataxia 23" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 23" EXACT [DOID:0050973, icd11.foundation:1340267869, MONDORULE:2, Orphanet:101108] xref: DOID:0050973 {source="MONDO:equivalentTo"} xref: GARD:9950 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:101108", source="Orphanet:101108/attributed", source="Orphanet:101108/ntbt"} @@ -283102,8 +283151,8 @@ subset: orphanet_rare {source="Orphanet:101109"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA28" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610246, Orphanet:101109] -synonym: "spinocerebellar ataxia 28" RELATED [MONDO:Lexical, OMIM:610246] -synonym: "spinocerebellar ataxia type 28" EXACT [MONDORULE:2, OMIM:610246] +synonym: "spinocerebellar ataxia 28" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 28" EXACT [DOID:0050977, icd11.foundation:2020736035, MONDORULE:2, Orphanet:101109] xref: DOID:0050977 {source="MONDO:equivalentTo"} xref: GARD:9951 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:101109/attributed", source="Orphanet:101109/ntbt", source="Orphanet:101109"} @@ -283125,7 +283174,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "EOE1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610247] -synonym: "esophagitis, eosinophilic" RELATED [OMIM:610247] +synonym: "esophagitis, eosinophilic" RELATED [] synonym: "esophagitis, eosinophilic, 1" EXACT [MONDO:Lexical, OMIM:610247] xref: MEDGEN:1634032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610247 {source="MONDO:equivalentTo"} @@ -283141,11 +283190,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22623", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 65" NARROW [DOID:0110516] -synonym: "autosomal recessive nonsyndromic deafness 65" NARROW [OMIM:610248] -synonym: "autosomal recessive nonsyndromic deafness type 65" NARROW [DOID:0110516, MONDORULE:2] -synonym: "deafness, autosomal recessive 65" NARROW [MONDO:Lexical, OMIM:610248, OMIM:genemap2] -synonym: "DFNB65" NARROW ABBREVIATION [DOID:0110516, MONDO:Lexical, OMIM:610248] +synonym: "autosomal recessive deafness 65" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 65" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 65" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 65" NARROW [MONDO:Lexical] +synonym: "DFNB65" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110516 {source="MONDO:equivalentTo"} xref: GARD:22623 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110516"} @@ -283168,12 +283217,12 @@ subset: orphanet_rare {source="Orphanet:101011"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 31" EXACT [DOID:0110782] -synonym: "autosomal dominant spastic paraplegia type 31" EXACT [DOID:0110782] +synonym: "autosomal dominant spastic paraplegia type 31" EXACT [DOID:0110782, Orphanet:101011] synonym: "hereditary spastic paraplegia caused by mutation in REEP1" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 31" EXACT [DOID:0110782, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 31" EXACT [MONDORULE:2] synonym: "REEP1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 31" RELATED [GARD:0010817] -synonym: "spastic paraplegia 31, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610250] +synonym: "spastic paraplegia 31, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG31" EXACT ABBREVIATION [DOID:0110782, MONDO:Lexical, OMIM:610250, Orphanet:101011] xref: DOID:0110782 {source="MONDO:equivalentTo"} xref: GARD:10817 {source="MONDO:GARD"} @@ -283196,7 +283245,7 @@ def: "Alcohol intolerance is characterized by immediate unpleasant reactions aft synonym: "acute alcohol sensitivity" RELATED [GARD:0012634] synonym: "alcohol intolerance" RELATED [GARD:0012634] synonym: "alcohol sensitivity, acute" EXACT [OMIM:610251] -synonym: "Hangover, susceptibility to" RELATED [OMIM:610251] +synonym: "Hangover, susceptibility to" RELATED [] xref: MEDGEN:390639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610251 {source="MONDO:equivalentTo"} xref: UMLS:C2674838 {source="MEDGEN:390639", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -283220,15 +283269,15 @@ subset: orphanet_rare {source="Orphanet:261494"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "9Q subtelomeric deletion syndrome" EXACT [OMIM:610253] -synonym: "9q subtelomeric deletion syndrome" RELATED EXCLUDE [DOID:0060352] -synonym: "9Q- syndrome" EXACT [OMIM:610253] -synonym: "9q-syndrome" EXACT [DOID:0060352] -synonym: "9q34 deletion syndrome" EXACT [DOID:0060352] +synonym: "9Q subtelomeric deletion syndrome" EXACT [] +synonym: "9q subtelomeric deletion syndrome" RELATED EXCLUDE [] +synonym: "9Q- syndrome" EXACT [] +synonym: "9q-syndrome" EXACT [] +synonym: "9q34 deletion syndrome" EXACT [] synonym: "9q34.3 microdeletion syndrome" EXACT [GARD:0008672] synonym: "chromosome 9q deletion syndrome" EXACT [GARD:0008672] -synonym: "chromosome 9Q34.3 deletion syndrome" EXACT [OMIM:610253] -synonym: "Kleefstra syndrome" EXACT CLINGEN_LABEL [OMIM:610253] +synonym: "chromosome 9Q34.3 deletion syndrome" EXACT [] +synonym: "Kleefstra syndrome" EXACT CLINGEN_LABEL [DOID:0080597, icd11.foundation:1997337437, OMIMPS:610253, Orphanet:261494] xref: DOID:0080597 {source="MONDO:equivalentTo"} xref: GARD:8672 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:261494/attributed", source="Orphanet:261494/ntbt", source="Orphanet:261494"} @@ -283257,13 +283306,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:83461"} subset: orphanet_rare {source="Orphanet:83461"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anterior segment dysgenesis 2" RELATED [OMIM:610256] -synonym: "anterior segment dysgenesis 2, multiple subtypes" EXACT [OMIM:610256, OMIM:genemap2] +synonym: "anterior segment dysgenesis 2" RELATED [] +synonym: "anterior segment dysgenesis 2, multiple subtypes" EXACT [] synonym: "aphakia, congenital primary" EXACT [DOID:11367, OMIM:610256] -synonym: "ASGD2" RELATED ABBREVIATION [OMIM:610256] -synonym: "congenital absence of lens" EXACT [DOID:11367] -synonym: "congenital aphakia" EXACT [Orphanet:83461] -synonym: "CPA" RELATED ABBREVIATION [OMIM:610256] +synonym: "ASGD2" RELATED ABBREVIATION [] +synonym: "congenital absence of lens" EXACT [DOID:11367, icd11.foundation:885383581] +synonym: "congenital aphakia" EXACT [DOID:11367, ICD10CM:Q12.3, icd11.foundation:885383581, NCIT:C35172] +synonym: "CPA" RELATED ABBREVIATION [] xref: DOID:0080607 {source="MONDO:equivalentTo"} xref: DOID:11367 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:9952 {source="MONDO:GARD"} @@ -283300,10 +283349,10 @@ is_a: MONDO:0100239 {source="DC-OMIM:610260", source="MESH:C565208", source="OMI id: MONDO:0012458 name: hypertension, essential, susceptibility to, 5 subset: predisposition -synonym: "hypertension, essential, body Mass-related" RELATED [OMIM:610261] +synonym: "hypertension, essential, body Mass-related" RELATED [] synonym: "hypertension, essential, susceptibility to, 5" EXACT [OMIM:610261] -synonym: "hypertension, essential, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:610261] -synonym: "Hyt5" RELATED [OMIM:610261] +synonym: "hypertension, essential, susceptibility to, type 5" EXACT [MONDORULE:1] +synonym: "Hyt5" RELATED [] xref: MEDGEN:339933 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610261 {source="MONDO:equivalentTo"} xref: UMLS:C1853227 {source="MEDGEN:339933", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -283317,10 +283366,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012459 name: hypertension, essential, susceptibility to, 6 subset: predisposition -synonym: "hypertension, essential, kidney function-related" RELATED [OMIM:610262] +synonym: "hypertension, essential, kidney function-related" RELATED [] synonym: "hypertension, essential, susceptibility to, 6" EXACT [OMIM:610262] -synonym: "hypertension, essential, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:610262] -synonym: "Hyt6" RELATED [OMIM:610262] +synonym: "hypertension, essential, susceptibility to, type 6" EXACT [MONDORULE:1] +synonym: "Hyt6" RELATED [] xref: MEDGEN:377855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610262 {source="MONDO:equivalentTo"} xref: UMLS:C1853226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:377855"} @@ -283337,14 +283386,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22624", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 67" NARROW [DOID:0110518] -synonym: "autosomal recessive nonsyndromic deafness 67" NARROW [OMIM:610265] +synonym: "autosomal recessive deafness 67" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 67" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 67" NARROW [DOID:0110518, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 67" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 67" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 67" NARROW [MONDO:Lexical, OMIM:610265, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 67" NARROW [MONDORULE:2, OMIM:610265] -synonym: "DFNB67" NARROW ABBREVIATION [DOID:0110518, MONDO:Lexical, OMIM:610265] +synonym: "deafness, autosomal recessive 67" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 67" NARROW [MONDORULE:2] +synonym: "DFNB67" NARROW ABBREVIATION [MONDO:Lexical] synonym: "LHFPL5 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110518 {source="MONDO:equivalentTo"} xref: GARD:22624 {source="MONDO:GARD"} @@ -283378,7 +283427,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:329329"} subset: orphanet_rare {source="Orphanet:329329"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pachygyria, frontotemporal" RELATED [OMIM:610279] +synonym: "pachygyria, frontotemporal" RELATED [] xref: GARD:21489 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:329329/attributed", source="Orphanet:329329/ntbt", source="Orphanet:329329"} xref: MEDGEN:343995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -283397,9 +283446,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:10402", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 35" EXACT [MONDO:Lexical, OMIM:610282] +synonym: "retinitis pigmentosa 35" EXACT [DOID:0110357, MONDO:Lexical, OMIM:610282] synonym: "retinitis pigmentosa caused by mutation in SEMA4A" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 35" EXACT [DOID:0110357, MONDORULE:2, OMIM:610282] +synonym: "retinitis pigmentosa type 35" EXACT [MONDORULE:2] synonym: "RP 35" RELATED [GARD:0010402] synonym: "RP35" EXACT ABBREVIATION [DOID:0110357, MONDO:Lexical, OMIM:610282] synonym: "SEMA4A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -283424,9 +283473,9 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:15477", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 10" EXACT [MONDO:Lexical, OMIM:610283] +synonym: "cone-rod dystrophy 10" EXACT [DOID:0111017, MONDO:Lexical, OMIM:610283] synonym: "cone-rod dystrophy caused by mutation in SEMA4A" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 10" EXACT [DOID:0111017, MONDORULE:2, OMIM:610283] +synonym: "cone-rod dystrophy type 10" EXACT [MONDORULE:2] synonym: "CORD10" EXACT ABBREVIATION [DOID:0111017, MONDO:Lexical, OMIM:610283] synonym: "SEMA4A cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111017 {source="MONDO:equivalentTo"} @@ -283452,11 +283501,11 @@ subset: orphanet_rare {source="Orphanet:83639"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital disorder of glycosylation due to PIGM deficiency" RELATED [GARD:0009965] -synonym: "glycosylphosphatidylinositol biosynthesis defect 1" RELATED [OMIM:610293] -synonym: "glycosylphosphatidylinositol deficiency" RELATED [OMIM:610293] -synonym: "GPI deficiency" RELATED [OMIM:610293] -synonym: "GPID" RELATED ABBREVIATION [OMIM:610293] -synonym: "PIGM-CDG" EXACT [Orphanet:83639] +synonym: "glycosylphosphatidylinositol biosynthesis defect 1" RELATED [] +synonym: "glycosylphosphatidylinositol deficiency" RELATED [] +synonym: "GPI deficiency" RELATED [] +synonym: "GPID" RELATED ABBREVIATION [] +synonym: "PIGM-CDG" EXACT ABBREVIATION [Orphanet:83639] xref: GARD:9965 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:83639/attributed", source="Orphanet:83639/ntbt", source="Orphanet:83639"} xref: icd11.foundation:1811042875 {source="MONDO:equivalentTo"} @@ -283480,10 +283529,10 @@ name: Parkinson disease 13, autosomal dominant, susceptibility to def: "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "HTRA2 young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PARK13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610297] -synonym: "Parkinson disease 13" EXACT [OMIM:610297, OMIM:genemap2] +synonym: "PARK13" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Parkinson disease 13" EXACT [] synonym: "Parkinson disease 13, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:610297] -synonym: "susceptibility to autosomal dominant Parkinson disease 13" RELATED [OMIM:610297] +synonym: "susceptibility to autosomal dominant Parkinson disease 13" RELATED [] synonym: "young-onset Parkinson disease caused by mutation in HTRA2" EXACT [MONDO:design_pattern] xref: MEDGEN:343992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565204 {source="MONDO:equivalentTo"} @@ -283503,13 +283552,13 @@ def: "Any cold-induced sweating syndrome in which the cause of the disease is a subset: gard_rare {source="GARD:18277", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CISS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610313] +synonym: "CISS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CLCF1 cold-induced sweating syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cold-induced sweating syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610313] +synonym: "cold-induced sweating syndrome 2" EXACT CLINGEN_LABEL [DOID:0080330, MONDO:Lexical] synonym: "cold-induced sweating syndrome caused by mutation in CLCF1" EXACT [MONDO:design_pattern] -synonym: "cold-induced sweating syndrome type 2" EXACT [MONDORULE:1, OMIM:610313] -synonym: "CRISPONI/cold-induced sweating syndrome 2" RELATED [OMIM:610313] -synonym: "Crisponi/cold-induced sweating syndrome 2" RELATED [OMIM:610313] +synonym: "cold-induced sweating syndrome type 2" EXACT [MONDORULE:1] +synonym: "CRISPONI/cold-induced sweating syndrome 2" RELATED [] +synonym: "Crisponi/cold-induced sweating syndrome 2" RELATED [] xref: DOID:0080330 {source="MONDO:equivalentTo"} xref: GARD:18277 {source="MONDO:GARD"} xref: MEDGEN:342816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -283551,7 +283600,7 @@ name: prostate cancer, hereditary, 7 subset: gard_rare {source="GARD:15478", source="MONDO:GARD"} subset: rare synonym: "HPC7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610321] -synonym: "prostate cancer aggressiveness" RELATED [OMIM:610321] +synonym: "prostate cancer aggressiveness" RELATED [] synonym: "prostate cancer, hereditary, 7" EXACT [MONDO:Lexical, OMIM:610321] xref: GARD:15478 {source="MONDO:GARD"} xref: MEDGEN:377849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -283568,10 +283617,10 @@ def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a muta subset: gard_rare {source="GARD:15479", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AGS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610329] +synonym: "AGS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Aicardi-Goutieres syndrome 3" EXACT [MONDO:Lexical, OMIM:610329] synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2C" EXACT [MONDO:design_pattern] -synonym: "Aicardi-Goutieres syndrome type 3" EXACT [MONDORULE:1, OMIM:610329] +synonym: "Aicardi-Goutieres syndrome type 3" EXACT [MONDORULE:1] synonym: "RNASEH2C -related Aicardi-Goutieres syndrome" RELATED [GARD:0010895] synonym: "RNASEH2C Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15479 {source="MONDO:GARD"} @@ -283597,10 +283646,10 @@ def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a muta subset: gard_rare {source="GARD:15480", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AGS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610333] +synonym: "AGS4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Aicardi-Goutieres syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610333] synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2A" EXACT [MONDO:design_pattern] -synonym: "Aicardi-Goutieres syndrome type 4" EXACT [MONDORULE:1, OMIM:610333] +synonym: "Aicardi-Goutieres syndrome type 4" EXACT [MONDORULE:1] synonym: "RNASEH2A Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RNASEH2A-related Aicardi-Goutieres syndrome" RELATED [GARD:0010896] xref: GARD:15480 {source="MONDO:GARD"} @@ -283623,11 +283672,11 @@ id: MONDO:0012473 name: right pulmonary artery, anomalous origin of, familial synonym: "anomalous origin of right pulmonary artery familial" RELATED [GARD:0010146] synonym: "ARPA familial" RELATED [GARD:0010146] -synonym: "Arpa, familial" RELATED [OMIM:610338] +synonym: "Arpa, familial" RELATED [] synonym: "familial anomalous origin of right pulmonary artery" RELATED [GARD:0010146] synonym: "familial ARPA" RELATED [GARD:0010146] synonym: "right pulmonary artery, anomalous origin of, familial" EXACT [OMIM:610338] -synonym: "right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus" RELATED [OMIM:610338] +synonym: "right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus" RELATED [] xref: MEDGEN:322780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535681 {source="MONDO:equivalentTo"} xref: OMIM:610338 {source="MONDO:equivalentTo"} @@ -283643,15 +283692,15 @@ subset: gard_rare {source="GARD:15481", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 4" EXACT [DOID:0060685, MONDORULE:1] +synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 4" EXACT [MONDORULE:1] synonym: "CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "convulsions, benign familial infantile, 6" RELATED [OMIM:610353] +synonym: "convulsions, benign familial infantile, 6" RELATED [] synonym: "ENFL4" EXACT ABBREVIATION [DOID:0060685, MONDO:Lexical, OMIM:610353] -synonym: "epilepsy, familial, with nocturnal wandering and Ictal fear" RELATED [OMIM:610353] -synonym: "epilepsy, nocturnal frontal lobe, 4" RELATED [MONDO:Lexical, OMIM:610353] -synonym: "epilepsy, nocturnal frontal lobe, type 4" EXACT [MONDORULE:1, OMIM:610353] +synonym: "epilepsy, familial, with nocturnal wandering and Ictal fear" RELATED [] +synonym: "epilepsy, nocturnal frontal lobe, 4" RELATED [MONDO:Lexical] +synonym: "epilepsy, nocturnal frontal lobe, type 4" EXACT [MONDORULE:1] synonym: "nocturnal frontal lobe epilepsy 4" EXACT [DOID:0060685] -synonym: "seizures, benign familial infantile, 6" RELATED [OMIM:610353] +synonym: "seizures, benign familial infantile, 6" RELATED [] xref: DOID:0060685 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0081119 {source="MONDO:equivalentTo"} xref: GARD:15481 {source="MONDO:GARD"} @@ -283677,16 +283726,16 @@ subset: orphanet_rare {source="Orphanet:209932"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cone dystrophy with night blindness and supernormal rod responses KCNV2 related" RELATED [GARD:0010649] -synonym: "cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related" RELATED [OMIM:610356] +synonym: "cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related" RELATED [] synonym: "cone dystrophy with supernormal rod electroretinogram" EXACT [Orphanet:209932] synonym: "cone dystrophy with supernormal rod ERG" EXACT [Orphanet:209932] -synonym: "cone dystrophy with supernormal rod response" EXACT CLINGEN_LABEL [] -synonym: "cone dystrophy with supernormal Rod responses" RELATED [OMIM:610356] +synonym: "cone dystrophy with supernormal rod response" EXACT CLINGEN_LABEL [icd11.foundation:545671557, Orphanet:209932] +synonym: "cone dystrophy with supernormal Rod responses" RELATED [] synonym: "cone dystrophy with supernormal scotopic electroretinogram" EXACT [Orphanet:209932] synonym: "KCNV2-related retinopathy" EXACT [https://clinicalgenome.org/working-groups/clinical-domain/ocular-cdwg/, https://orcid.org/0000-0001-5935-2391, https://orcid.org/0000-0002-0587-4693] -synonym: "RCD3B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610356] -synonym: "retinal cone dystrophy 3B" RELATED [MONDO:Lexical, OMIM:610356] -synonym: "retinal cone dystrophy type 3B" EXACT [MONDORULE:4, OMIM:610356] +synonym: "RCD3B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "retinal cone dystrophy 3B" RELATED [MONDO:Lexical] +synonym: "retinal cone dystrophy type 3B" EXACT [MONDORULE:4] xref: DOID:0081022 {source="MONDO:equivalentTo"} xref: GARD:10649 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:209932/attributed", source="Orphanet:209932/ntbt", source="Orphanet:209932"} @@ -283712,14 +283761,14 @@ subset: ordo_disorder {source="Orphanet:101010"} subset: orphanet_rare {source="Orphanet:101010"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive spastic paraplegia 30" EXACT [DOID:0110781] -synonym: "autosomal spastic paraplegia type 30" EXACT [DOID:0110781] +synonym: "autosomal recessive spastic paraplegia 30" EXACT [] +synonym: "autosomal spastic paraplegia type 30" EXACT [DOID:0110781, Orphanet:101010] synonym: "hereditary spastic paraplegia caused by mutation in KIF1A" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 30" EXACT [DOID:0110781, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 30" EXACT [MONDORULE:2] synonym: "KIF1A hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spastic paraplegia 30, autosomal dominant" EXACT [OMIM:610357, OMIM:genemap2] -synonym: "spastic paraplegia 30, autosomal recessive" RELATED [MONDO:Lexical, OMIM:610357] -synonym: "SPG30" EXACT ABBREVIATION [DOID:0110781, MONDO:Lexical, OMIM:610357, Orphanet:101010] +synonym: "spastic paraplegia 30, autosomal dominant" EXACT [] +synonym: "spastic paraplegia 30, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "SPG30" EXACT ABBREVIATION [DOID:0110781, MONDO:Lexical, Orphanet:101010] xref: DOID:0110781 {source="MONDO:equivalentTo"} xref: GARD:16942 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="Orphanet:101010/attributed", source="Orphanet:101010/ntbt", source="DOID:0110781", source="Orphanet:101010"} @@ -283741,9 +283790,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:10400", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 33" EXACT [MONDO:Lexical, OMIM:610359] +synonym: "retinitis pigmentosa 33" EXACT [DOID:0110366, MONDO:Lexical, OMIM:610359] synonym: "retinitis pigmentosa caused by mutation in SNRNP200" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 33" EXACT [DOID:0110366, MONDORULE:2, OMIM:610359] +synonym: "retinitis pigmentosa type 33" EXACT [MONDORULE:2] synonym: "RP 33" RELATED [GARD:0010400] synonym: "RP33" EXACT ABBREVIATION [DOID:0110366, MONDO:Lexical, OMIM:610359] synonym: "SNRNP200 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -283766,9 +283815,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10400/retini [Term] id: MONDO:0012478 name: orofacial cleft 9 -synonym: "cleft lip with or without cleft palate, nonsyndromic, 9" RELATED [OMIM:610361] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 9" RELATED [] synonym: "OFC9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610361] -synonym: "orofacial cleft 9" EXACT [MONDO:Lexical, OMIM:610361] +synonym: "orofacial cleft 9" EXACT [DOID:0080402, MONDO:Lexical, OMIM:610361] xref: DOID:0080402 {source="MONDO:equivalentTo"} xref: MEDGEN:332079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563675 {source="MONDO:equivalentTo"} @@ -283790,12 +283839,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital diarrhea caused by mutation in NEUROG3" EXACT [MONDO:design_pattern] synonym: "congenital diarrhoea caused by mutation in NEUROG3" EXACT OMO:0003005 [] -synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT [DOID:0060779] -synonym: "congenital malabsorptive diarrhea type 4" EXACT [DOID:0060779, MONDORULE:1] -synonym: "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells" EXACT OMO:0003005 [] +synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT [DOID:0060779, Orphanet:83620] +synonym: "congenital malabsorptive diarrhea type 4" EXACT [MONDORULE:1] +synonym: "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells" EXACT OMO:0003005 [DOID:0060779] synonym: "congenital malabsorptive diarrhoea type 4" EXACT OMO:0003005 [] -synonym: "DIAR4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610370] -synonym: "diarrhea 4, malabsorptive, congenital" RELATED [MONDO:Lexical, OMIM:610370] +synonym: "DIAR4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "diarrhea 4, malabsorptive, congenital" RELATED [MONDO:Lexical] synonym: "diarrhoea 4, malabsorptive, congenital" RELATED OMO:0003005 [] synonym: "enteric anendocrinosis" EXACT [DOID:0060779, OMIM:610370, Orphanet:83620] synonym: "NEUROG3 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -283824,10 +283873,10 @@ subset: gard_rare {source="GARD:15482", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ABCC8 transient neonatal diabetes mellitus (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "diabetes mellitus, transient neonatal 2" EXACT [OMIM:610374, OMIM:genemap2] +synonym: "diabetes mellitus, transient neonatal 2" EXACT [] synonym: "diabetes mellitus, transient neonatal, 2" EXACT [OMIM:610374] -synonym: "diabetes mellitus, transient neonatal, type 2" EXACT [MONDORULE:1, OMIM:610374] -synonym: "Tndm2" RELATED [OMIM:610374] +synonym: "diabetes mellitus, transient neonatal, type 2" EXACT [MONDORULE:1] +synonym: "Tndm2" RELATED [] synonym: "transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8" EXACT [] xref: GARD:15482 {source="MONDO:GARD"} xref: MEDGEN:372150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -283854,9 +283903,9 @@ subset: rare synonym: "complete mevalonate kinase deficiency" EXACT [Orphanet:29] synonym: "HIDS" EXACT ABBREVIATION [NCIT:C84890] synonym: "hyperimmunoglobulin D with periodic fever syndrome" EXACT [NCIT:C84890] -synonym: "MEVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610377] -synonym: "mevalonate kinase deficiency" RELATED EXCLUDE [DOID:0050452] -synonym: "mevalonic aciduria" EXACT [MONDO:Lexical, OMIM:610377] +synonym: "MEVA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mevalonate kinase deficiency" RELATED EXCLUDE [] +synonym: "mevalonic aciduria" EXACT [DOID:0050452, icd11.foundation:572875152, MONDO:Lexical, NCIT:C84890, OMIM:610377, Orphanet:29] synonym: "Mevalonicaciduria" RELATED [GARD:0003588] synonym: "MKD" EXACT ABBREVIATION [NCIT:C84890] synonym: "MVA" EXACT ABBREVIATION [Orphanet:29] @@ -283887,7 +283936,7 @@ id: MONDO:0012482 name: West Nile virus, susceptibility to subset: predisposition synonym: "West Nile virus, susceptibility to" EXACT [OMIM:610379] -synonym: "WNV, susceptibility to" RELATED [OMIM:610379] +synonym: "WNV, susceptibility to" RELATED [] xref: MEDGEN:372145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610379 {source="MONDO:equivalentTo"} xref: UMLS:C1835867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:372145"} @@ -283904,9 +283953,9 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:15484", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 11" EXACT [MONDO:Lexical, OMIM:610381] +synonym: "cone-rod dystrophy 11" EXACT [DOID:0111018, MONDO:Lexical, OMIM:610381] synonym: "cone-rod dystrophy caused by mutation in RAX2" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 11" EXACT [DOID:0111018, MONDORULE:2, OMIM:610381] +synonym: "cone-rod dystrophy type 11" EXACT [MONDORULE:2] synonym: "CORD11" EXACT ABBREVIATION [DOID:0111018, MONDO:Lexical, OMIM:610381] synonym: "RAX2 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111018 {source="MONDO:equivalentTo"} @@ -283927,11 +283976,11 @@ name: prosopagnosia, hereditary def: "An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] synonym: "congenital prosopagnosia" RELATED [GARD:0010035] synonym: "developmental prosopagnosia" RELATED [GARD:0010035] -synonym: "face blindness" RELATED [OMIM:610382] +synonym: "face blindness" RELATED [] synonym: "hereditary prosopagnosia" RELATED [GARD:0010035] synonym: "hereditary prosopagnosia (disease)" EXACT [MONDO:patterns/hereditary] -synonym: "prosopagnosia, congenital" RELATED [OMIM:610382] -synonym: "prosopagnosia, developmental" RELATED [OMIM:610382] +synonym: "prosopagnosia, congenital" RELATED [] +synonym: "prosopagnosia, developmental" RELATED [] synonym: "prosopagnosia, hereditary" EXACT [OMIM:610382] xref: MEDGEN:419809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537242 {source="MONDO:equivalentTo"} @@ -283947,13 +283996,13 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22625", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 68" NARROW [DOID:0110519] -synonym: "autosomal recessive nonsyndromic deafness 68" NARROW [OMIM:610419] +synonym: "autosomal recessive deafness 68" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 68" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in S1PR2" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 68" NARROW [DOID:0110519, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 68" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 68" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 68" NARROW [MONDO:Lexical, OMIM:610419, OMIM:genemap2] -synonym: "DFNB68" NARROW ABBREVIATION [DOID:0110519, MONDO:Lexical, OMIM:610419] +synonym: "deafness, autosomal recessive 68" NARROW [MONDO:Lexical] +synonym: "DFNB68" NARROW ABBREVIATION [MONDO:Lexical] synonym: "S1PR2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110519 {source="MONDO:equivalentTo"} xref: GARD:22625 {source="MONDO:GARD"} @@ -283974,7 +284023,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012486 name: preauricular tag, isolated, autosomal dominant, 1 synonym: "preauricular tag, isolated, autosomal dominant, 1" EXACT [OMIM:610420] -synonym: "preauricular Tag, isolated, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:610420] +synonym: "preauricular Tag, isolated, autosomal dominant, type 1" EXACT [MONDORULE:1] xref: MEDGEN:369878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566904 {source="MONDO:equivalentTo"} xref: OMIM:610420 {source="MONDO:equivalentTo"} @@ -283990,9 +284039,9 @@ subset: rare synonym: "alopecia intellectual disability syndrome 2" RELATED [GARD:0004291] synonym: "alopecia with mild to moderate intellectual deficit" RELATED [GARD:0004291] synonym: "alopecia-intellectual disability syndrome 2" EXACT [MONDO:Lexical, OMIM:610422] -synonym: "alopecia-mental retardation syndrome 2" EXACT DEPRECATED [MONDO:Lexical, OMIM:610422] +synonym: "alopecia-mental retardation syndrome 2" EXACT DEPRECATED [DOID:0080629, MONDO:Lexical, OMIM:610422] synonym: "AMR syndrome 2" RELATED [GARD:0004291] -synonym: "APMR2" RELATED DEPRECATED [MONDO:Lexical, OMIM:610422] +synonym: "APMR2" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0080629 {source="MONDO:equivalentTo"} xref: GARD:4291 {source="MONDO:GARD"} xref: MEDGEN:372142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -284006,10 +284055,10 @@ is_a: MONDO:0008756 {source="DOID:0080629", source="OMIM:610422"} ! alopecia - i id: MONDO:0012488 name: hepatitis B virus, susceptibility to subset: predisposition -synonym: "HBV, resistance to" RELATED [OMIM:610424] -synonym: "HBV, susceptibility to" RELATED [OMIM:610424] -synonym: "hepatitis B virus infection, susceptibility to" EXACT [OMIM:610424, OMIM:genemap2] -synonym: "Hepatitis B Virus, resistance to" RELATED [OMIM:610424] +synonym: "HBV, resistance to" RELATED [] +synonym: "HBV, susceptibility to" RELATED [] +synonym: "hepatitis B virus infection, susceptibility to" EXACT [] +synonym: "Hepatitis B Virus, resistance to" RELATED [] synonym: "hepatitis b virus, susceptibility to" EXACT [OMIM:610424] xref: MEDGEN:400632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610424 {source="MONDO:equivalentTo"} @@ -284027,11 +284076,11 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 23" EXACT [MONDO:Lexical, OMIM:610425] -synonym: "cataract 23, lamellar" RELATED [OMIM:610425] -synonym: "cataract 23, multiple types" RELATED [OMIM:610425] -synonym: "cataract 23, multiple types, with or without microcornea" RELATED [OMIM:610425] -synonym: "cataract type 23" EXACT [DOID:0110271, MONDORULE:2, OMIM:610425] +synonym: "cataract 23" EXACT [DOID:0110271, MONDO:Lexical] +synonym: "cataract 23, lamellar" RELATED [] +synonym: "cataract 23, multiple types" RELATED [] +synonym: "cataract 23, multiple types, with or without microcornea" RELATED [] +synonym: "cataract type 23" EXACT [MONDORULE:2] synonym: "CRYBA4 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CTRCT23" EXACT ABBREVIATION [DOID:0110271, MONDO:Lexical, OMIM:610425] synonym: "early-onset non-syndromic cataract caused by mutation in CRYBA4" EXACT [MONDO:design_pattern] @@ -284055,11 +284104,11 @@ name: cone-rod synaptic disorder, congenital nonprogressive subset: gard_rare {source="GARD:15485", source="MONDO:GARD"} subset: rare synonym: "cone-rod synaptic disorder, congenital nonprogressive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610427] -synonym: "CRSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610427] -synonym: "night blindness, congenital stationary, incomplete, autosomal recessive" RELATED [OMIM:610427] -synonym: "night blindness, congenital stationary, incomplete, autosomal recessive, formerly" RELATED [OMIM:610427] -synonym: "night blindness, congenital stationary, type 2B" RELATED [OMIM:610427] -synonym: "night blindness, congenital stationary, type 2B, formerly" RELATED [OMIM:610427] +synonym: "CRSD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "night blindness, congenital stationary, incomplete, autosomal recessive" RELATED [] +synonym: "night blindness, congenital stationary, incomplete, autosomal recessive, formerly" RELATED [] +synonym: "night blindness, congenital stationary, type 2B" RELATED [] +synonym: "night blindness, congenital stationary, type 2B, formerly" RELATED [] xref: GARD:15485 {source="MONDO:GARD"} xref: MEDGEN:874422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610427 {source="MONDO:equivalentTo"} @@ -284076,7 +284125,7 @@ name: macroglobulinemia, Waldenstrom, 2 subset: gard_rare {source="GARD:15486", source="MONDO:GARD"} subset: predisposition subset: rare -synonym: "macroglobulinemia, WALDENSTROM, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:610430] +synonym: "macroglobulinemia, WALDENSTROM, susceptibility to, 2" RELATED [MONDO:Lexical] synonym: "WM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610430] xref: GARD:15486 {source="MONDO:GARD"} xref: MEDGEN:355856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -284089,7 +284138,7 @@ is_a: MONDO:0100280 {source="OMIM:610430", source="Orphanet:33226/btnt"} ! Walde id: MONDO:0012492 name: restless legs syndrome, susceptibility to, 3 subset: predisposition -synonym: "restless legs syndrome 3" EXACT [OMIM:610438, OMIM:genemap2] +synonym: "restless legs syndrome 3" EXACT [] synonym: "restless legs syndrome, susceptibility to, 3" EXACT [OMIM:610438] synonym: "RLS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610438] xref: MEDGEN:355315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -284105,7 +284154,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012493 name: restless legs syndrome, susceptibility to, 4 subset: predisposition -synonym: "restless legs syndrome 4" EXACT [OMIM:610439, OMIM:genemap2] +synonym: "restless legs syndrome 4" EXACT [] synonym: "restless legs syndrome, susceptibility to, 4" EXACT [OMIM:610439] synonym: "RLS 4" RELATED [GARD:0010271] synonym: "RLS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610439] @@ -284142,15 +284191,15 @@ subset: ordo_disorder {source="Orphanet:168454"} subset: orphanet_rare {source="Orphanet:168454"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Nans deficiency" RELATED [OMIM:610442] +synonym: "Nans deficiency" RELATED [] synonym: "SEMD Genevieve type" RELATED [GARD:0010057] -synonym: "SEMD, Genevieve type" RELATED [OMIM:610442] +synonym: "SEMD, Genevieve type" RELATED [] synonym: "SEMD, Geneviève type" EXACT [Orphanet:168454] -synonym: "SEMDG" EXACT ABBREVIATION [Orphanet:168454] +synonym: "SEMDG" EXACT ABBREVIATION [OMIM:610442, Orphanet:168454] synonym: "spondyloepimetaphyseal dysplasia Genevieve type" RELATED [GARD:0010057] -synonym: "spondyloepimetaphyseal dysplasia, Camera-Genevieve type" EXACT [OMIM:610442, OMIM:genemap2] -synonym: "spondyloepimetaphyseal dysplasia, Genevieve type" EXACT [OMIM:610442] -synonym: "spondyloepimetaphyseal dysplasia, Geneviève type" RELATED [Orphanet:168454] +synonym: "spondyloepimetaphyseal dysplasia, Camera-Genevieve type" EXACT [] +synonym: "spondyloepimetaphyseal dysplasia, Genevieve type" EXACT [icd11.foundation:1383217537, OMIM:610442] +synonym: "spondyloepimetaphyseal dysplasia, Geneviève type" RELATED [] xref: DOID:0080576 {source="MONDO:equivalentTo"} xref: GARD:10057 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:168454/attributed", source="Orphanet:168454/ntbt", source="Orphanet:168454"} @@ -284181,18 +284230,18 @@ subset: orphanet_rare {source="Orphanet:96169"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "17q21.31 deletion syndrome" RELATED [GARD:0010727] -synonym: "17q21.31 microdeletion syndrome" RELATED EXCLUDE [DOID:0050880] -synonym: "chromosome 17Q21.31 deletion syndrome" RELATED [OMIM:610443] -synonym: "chromosome 17q21.31 deletion syndrome" EXACT [DOID:0070076] +synonym: "17q21.31 microdeletion syndrome" RELATED EXCLUDE [] +synonym: "chromosome 17Q21.31 deletion syndrome" RELATED [] +synonym: "chromosome 17q21.31 deletion syndrome" EXACT [OMIM:610443] synonym: "chromosome 17q21.31 microdeletion syndrome" RELATED [GARD:0010727] -synonym: "KANSL1-related intellectual disability syndrome" EXACT [DOID:0050880] -synonym: "KDVS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610443] -synonym: "KdVS" EXACT [DOID:0050880, Orphanet:96169] +synonym: "KANSL1-related intellectual disability syndrome" EXACT [] +synonym: "KDVS" EXACT ABBREVIATION [OMIM:610443] +synonym: "KdVS" EXACT [Orphanet:96169] synonym: "Koolen de Vries syndrome" EXACT CLINGEN_LABEL [] -synonym: "Koolen-DE Vries syndrome" RELATED [MONDO:Lexical, OMIM:610443] -synonym: "Koolen-De Vries syndrome" EXACT [DOID:0050880] -synonym: "microdeletion 17Q21.31 syndrome" RELATED [OMIM:610443] -synonym: "microdeletion 17q21.31 syndrome" EXACT [DOID:0070076] +synonym: "Koolen-DE Vries syndrome" RELATED [MONDO:Lexical] +synonym: "Koolen-De Vries syndrome" EXACT [OMIM:610443, Orphanet:96169] +synonym: "microdeletion 17Q21.31 syndrome" RELATED [] +synonym: "microdeletion 17q21.31 syndrome" EXACT [OMIM:610443] xref: GARD:10727 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:96169", source="Orphanet:96169/attributed", source="Orphanet:96169/ntbt"} xref: MEDGEN:355853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -284213,11 +284262,11 @@ name: congenital stationary night blindness autosomal dominant 3 def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21." [DOID:0110715, PMID:8673138] subset: gard_rare {source="GARD:15487", source="MONDO:GARD"} subset: rare -synonym: "congenital stationary night blindness autosomal dominant type 3" EXACT [DOID:0110715, MONDORULE:1] +synonym: "congenital stationary night blindness autosomal dominant type 3" EXACT [MONDORULE:1] synonym: "CSNBAD3" EXACT ABBREVIATION [DOID:0110715, MONDO:Lexical, OMIM:610444] -synonym: "night blindness, congenital stationary, autosomal dominant 3" RELATED [MONDO:Lexical, OMIM:610444] -synonym: "night blindness, congenital stationary, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:610444] -synonym: "night blindness, congenital stationary, Nougaret type" RELATED [OMIM:610444] +synonym: "night blindness, congenital stationary, autosomal dominant 3" RELATED [MONDO:Lexical] +synonym: "night blindness, congenital stationary, autosomal dominant type 3" EXACT [MONDORULE:1] +synonym: "night blindness, congenital stationary, Nougaret type" RELATED [] synonym: "Nougaret type congenital stationary night blindness" EXACT [DOID:0110715] xref: DOID:0110715 {source="MONDO:equivalentTo"} xref: GARD:15487 {source="MONDO:GARD"} @@ -284240,12 +284289,12 @@ name: congenital stationary night blindness autosomal dominant 1 def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15488", source="MONDO:GARD"} subset: rare -synonym: "congenital stationary night blindness autosomal dominant type 1" EXACT [DOID:0110862, MONDORULE:1] +synonym: "congenital stationary night blindness autosomal dominant type 1" EXACT [MONDORULE:1] synonym: "congenital stationary night blindness caused by mutation in RHO" EXACT [MONDO:design_pattern] synonym: "CSNBAD1" EXACT ABBREVIATION [DOID:0110862, MONDO:Lexical, OMIM:610445] -synonym: "night blindness, congenital stationary, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:610445] -synonym: "night blindness, congenital stationary, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:610445] -synonym: "night blindness, congenital stationary, rhodopsin-related" RELATED [OMIM:610445] +synonym: "night blindness, congenital stationary, autosomal dominant 1" RELATED [MONDO:Lexical] +synonym: "night blindness, congenital stationary, autosomal dominant type 1" EXACT [MONDORULE:1] +synonym: "night blindness, congenital stationary, rhodopsin-related" RELATED [] synonym: "RHO congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "rhodopsin-related congenital stationary night blindness" EXACT [DOID:0110862] xref: DOID:0110862 {source="MONDO:equivalentTo"} @@ -284267,7 +284316,7 @@ name: Buruli ulcer, susceptibility to subset: predisposition synonym: "BUD" RELATED ABBREVIATION [GARD:0009520] synonym: "Buruli ulcer, susceptibility to" EXACT [OMIM:610446] -synonym: "Mycobacterium ulcerans, susceptibility to" RELATED [OMIM:610446] +synonym: "Mycobacterium ulcerans, susceptibility to" RELATED [] xref: MEDGEN:355851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610446 {source="MONDO:equivalentTo"} xref: UMLS:C1864868 {source="MONDO:equivalentTo", source="MEDGEN:355851", source="MONDO:MEDGEN"} @@ -284284,11 +284333,11 @@ def: "Any chilblain lupus in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:18493", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CHBL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610448] -synonym: "chilblain lupus" BROAD [OMIM:610448, OMIM:genemap2] +synonym: "CHBL1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "chilblain lupus" BROAD [] synonym: "chilblain lupus 1" EXACT [MONDO:Lexical, OMIM:610448] synonym: "chilblain lupus caused by mutation in TREX1" EXACT [MONDO:design_pattern] -synonym: "chilblain lupus type 1" EXACT [MONDORULE:1, OMIM:610448] +synonym: "chilblain lupus type 1" EXACT [MONDORULE:1] synonym: "TREX1 chilblain lupus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18493 {source="MONDO:GARD"} xref: MEDGEN:9822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -284308,7 +284357,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012501 name: obsolete mutagen sensitivity comment: Reason: out of scope. Term to consider: None -synonym: "mutagen sensitivity" EXACT [OMIM:610452] +synonym: "mutagen sensitivity" EXACT [] xref: OMIM:610452 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4132" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/8273/mutagen-sensitivity" xsd:anyURI {source="GARD:0008273"} @@ -284322,12 +284371,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:306658"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "calcinosis, tumoral, with Normophosphatemia" RELATED [OMIM:610455] -synonym: "familial normophosphatemic tumoral calcinosis" RELATED [Orphanet:306658] -synonym: "NFTC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610455] -synonym: "normophosphatemic familial tumoral calcinosis" EXACT CLINGEN_LABEL [] -synonym: "tumoral calcinosis, familial, normophosphatemic" EXACT [OMIM:610455, OMIM:genemap2] -synonym: "tumoral calcinosis, normophosphatemic, familial" RELATED [MONDO:Lexical, OMIM:610455] +synonym: "calcinosis, tumoral, with Normophosphatemia" RELATED [] +synonym: "familial normophosphatemic tumoral calcinosis" RELATED [] +synonym: "NFTC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "normophosphatemic familial tumoral calcinosis" EXACT CLINGEN_LABEL [DOID:0080170] +synonym: "tumoral calcinosis, familial, normophosphatemic" EXACT [] +synonym: "tumoral calcinosis, normophosphatemic, familial" RELATED [MONDO:Lexical] xref: DOID:0080170 {source="MONDO:equivalentTo"} xref: GARD:10878 {source="MONDO:GARD"} xref: ICD10CM:M11.2 {source="Orphanet:306658/attributed", source="Orphanet:306658/ntbt", source="Orphanet:306658"} @@ -284352,16 +284401,16 @@ subset: rare synonym: "6-mercaptopurine sensitivity" RELATED [GARD:0005173] synonym: "inborn error of thiopurine S-methyltransferase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn thiopurine S-methyltransferase activity disorder" EXACT [] -synonym: "poor metabolism of thiopurines-1" EXACT [DOID:0080172] +synonym: "poor metabolism of thiopurines-1" EXACT [] synonym: "rare inborn error of thiopurine S-methyltransferase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "thiopurine methyltransferase deficiency" RELATED [GARD:0005173] synonym: "thiopurine S methyltranferase deficiency" RELATED [GARD:0005173] -synonym: "thiopurine S-methyltransferase deficiency" EXACT [OMIM:610460] -synonym: "Thiopurines, poor metabolism of" RELATED [OMIM:610460] -synonym: "Thiopurines, poor metabolism of, 1" RELATED [OMIM:610460] -synonym: "thiopurines, poor metabolism of, 1" RELATED [OMIM:610460] -synonym: "THPM1" RELATED ABBREVIATION [OMIM:610460] -synonym: "TPMT deficiency" EXACT [DOID:0080172, OMIM:610460] +synonym: "thiopurine S-methyltransferase deficiency" EXACT [DOID:0080172, icd11.foundation:1916778396, OMIM:610460] +synonym: "Thiopurines, poor metabolism of" RELATED [] +synonym: "Thiopurines, poor metabolism of, 1" RELATED [] +synonym: "thiopurines, poor metabolism of, 1" RELATED [] +synonym: "THPM1" RELATED ABBREVIATION [] +synonym: "TPMT deficiency" EXACT [DOID:0080172, NCIT:C4389, OMIM:610460] xref: DOID:0080172 {source="MONDO:equivalentTo"} xref: icd11.foundation:1916778396 {source="MONDO:equivalentTo"} xref: MEDGEN:83352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -284389,9 +284438,9 @@ subset: ordo_disorder {source="Orphanet:85164"} subset: orphanet_rare {source="Orphanet:85164"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "camptodactyly, tall stature, and hearing loss syndrome" RELATED [OMIM:610474] +synonym: "camptodactyly, tall stature, and hearing loss syndrome" RELATED [] synonym: "CATSHL syndrome" EXACT [DOID:0111160, GARD:0010012, OMIM:610474, Orphanet:85164] -synonym: "CATSHLS" RELATED ABBREVIATION [OMIM:610474] +synonym: "CATSHLS" RELATED ABBREVIATION [] xref: DOID:0111160 {source="MONDO:equivalentTo"} xref: GARD:10012 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:85164/attributed", source="Orphanet:85164/ntbt", source="Orphanet:85164"} @@ -284413,12 +284462,12 @@ def: "Any primary pigmented nodular adrenocortical disease in which the cause of subset: gard_rare {source="GARD:15489", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Cushing syndrome, adrenal, due to PPNAD2" RELATED [OMIM:610475] +synonym: "Cushing syndrome, adrenal, due to PPNAD2" RELATED [] synonym: "PDE11A primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "pigmented micronodular adrenocortical disease, primary, 2" RELATED [OMIM:610475] +synonym: "pigmented micronodular adrenocortical disease, primary, 2" RELATED [] synonym: "pigmented nodular adrenocortical disease, primary, 2" EXACT [MONDO:Lexical, OMIM:610475] -synonym: "pigmented nodular adrenocortical disease, primary, type 2" EXACT [MONDORULE:1, OMIM:610475] -synonym: "PPNAD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610475] +synonym: "pigmented nodular adrenocortical disease, primary, type 2" EXACT [MONDORULE:1] +synonym: "PPNAD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PDE11A" EXACT [MONDO:design_pattern] xref: DOID:0070547 {source="MONDO:equivalentTo"} xref: GARD:15489 {source="MONDO:GARD"} @@ -284440,16 +284489,16 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arrhythmogenic right ventricular cardiomyopathy 11" EXACT [DOID:0110082, OMIM:610476] -synonym: "arrhythmogenic right ventricular dysplasia 11" EXACT CLINGEN_LABEL [] +synonym: "arrhythmogenic right ventricular dysplasia 11" EXACT CLINGEN_LABEL [DOID:0110082] synonym: "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair" EXACT OMO:0003005 [] -synonym: "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and wooly hair" EXACT [OMIM:610476, OMIM:genemap2] -synonym: "arrhythmogenic right ventricular dysplasia type 11" EXACT [DOID:0110082, MONDORULE:2] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 11" RELATED [MONDO:Lexical, OMIM:610476] +synonym: "arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and wooly hair" EXACT [] +synonym: "arrhythmogenic right ventricular dysplasia type 11" EXACT [MONDORULE:2] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 11" RELATED [MONDO:Lexical] synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair" RELATED OMO:0003005 [] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without wooly hair" RELATED [OMIM:610476] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without wooly hair" RELATED [] synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair" RELATED OMO:0003005 [] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and wooly hair" RELATED [OMIM:610476] -synonym: "arrhythmogenic right ventricular dysplasia, familial, type 11" EXACT [MONDORULE:2, OMIM:610476] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and wooly hair" RELATED [] +synonym: "arrhythmogenic right ventricular dysplasia, familial, type 11" EXACT [MONDORULE:2] synonym: "ARVC11" EXACT ABBREVIATION [DOID:0110082] synonym: "ARVD11" EXACT ABBREVIATION [DOID:0110082, MONDO:Lexical, OMIM:610476] synonym: "DSC2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -284478,9 +284527,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CACNA2D4 cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cone dystrophy caused by mutation in CACNA2D4" EXACT [MONDO:design_pattern] -synonym: "RCD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610478] -synonym: "retinal cone dystrophy 4" EXACT [MONDO:Lexical, OMIM:610478] -synonym: "retinal cone dystrophy type 4" EXACT [MONDORULE:1, OMIM:610478] +synonym: "RCD4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "retinal cone dystrophy 4" EXACT [DOID:0081023, MONDO:Lexical, OMIM:610478] +synonym: "retinal cone dystrophy type 4" EXACT [MONDORULE:1] xref: DOID:0081023 {source="MONDO:equivalentTo"} xref: GARD:10650 {source="MONDO:GARD"} xref: MEDGEN:355308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -284507,7 +284556,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:83617"} subset: orphanet_rare {source="Orphanet:83617"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "agammaglobulinemia, microcephaly, and severe dermatitis" RELATED [OMIM:610483] +synonym: "agammaglobulinemia, microcephaly, and severe dermatitis" RELATED [] xref: GARD:10011 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:83617/attributed", source="Orphanet:83617/ntbt", source="Orphanet:83617"} xref: MEDGEN:351236 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -284531,12 +284580,12 @@ def: "Any primary pigmented nodular adrenocortical disease in which the cause of subset: gard_rare {source="GARD:18620", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "adrenocortical nodular dysplasia, primary" RELATED [OMIM:610489] -synonym: "Cushing syndrome, adrenal, due to PPNAD1" RELATED [OMIM:610489] -synonym: "pigmented micronodular adrenocortical disease, primary, 1" RELATED [OMIM:610489] +synonym: "adrenocortical nodular dysplasia, primary" RELATED [] +synonym: "Cushing syndrome, adrenal, due to PPNAD1" RELATED [] +synonym: "pigmented micronodular adrenocortical disease, primary, 1" RELATED [] synonym: "pigmented nodular adrenocortical disease, primary, 1" EXACT [MONDO:Lexical, OMIM:610489] -synonym: "pigmented nodular adrenocortical disease, primary, type 1" EXACT [MONDORULE:1, OMIM:610489] -synonym: "PPNAD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610489] +synonym: "pigmented nodular adrenocortical disease, primary, type 1" EXACT [MONDORULE:1] +synonym: "PPNAD1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A" EXACT [MONDO:design_pattern] synonym: "PRKAR1A primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070546 {source="MONDO:equivalentTo"} @@ -284561,11 +284610,11 @@ subset: ordo_disorder {source="Orphanet:254920"} subset: orphanet_rare {source="Orphanet:254920"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 2" RELATED [MONDO:Lexical, OMIM:610498] +synonym: "combined oxidative phosphorylation deficiency 2" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPS16" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 2" EXACT [MONDORULE:1, OMIM:610498] -synonym: "corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis" RELATED [OMIM:610498] -synonym: "COXPD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610498, Orphanet:254920] +synonym: "combined oxidative phosphorylation deficiency type 2" EXACT [MONDORULE:1] +synonym: "corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis" RELATED [] +synonym: "COXPD2" EXACT ABBREVIATION [DOID:0111483, MONDO:Lexical, OMIM:610498, Orphanet:254920] synonym: "MRPS16 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111483 {source="MONDO:equivalentTo"} xref: GARD:17232 {source="MONDO:GARD"} @@ -284587,9 +284636,9 @@ id: MONDO:0012511 name: preterm premature rupture of the membranes def: "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation." [DOID:0111144] subset: otar {source="MONDO:OTAR"} -synonym: "PPROM" EXACT ABBREVIATION [DOID:0111144, MONDO:Lexical, OMIM:610504] -synonym: "preterm premature rupture of the membranes" EXACT [MONDO:Lexical, OMIM:610504] -synonym: "preterm premature rupture of the membranes, susceptibility to" EXACT [OMIM:610504, OMIM:genemap2] +synonym: "PPROM" EXACT ABBREVIATION [DOID:0111144, MONDO:Lexical, NCIT:C92862, OMIM:610504] +synonym: "preterm premature rupture of the membranes" EXACT [DOID:0111144, MONDO:Lexical, OMIM:610504] +synonym: "preterm premature rupture of the membranes, susceptibility to" EXACT [] xref: DOID:0111144 {source="MONDO:equivalentTo"} xref: MEDGEN:147582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563032 {source="MONDO:equivalentTo"} @@ -284612,13 +284661,13 @@ subset: ordo_disorder {source="Orphanet:168566"} subset: orphanet_rare {source="Orphanet:168566"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 3" RELATED [MONDO:Lexical, OMIM:610505] +synonym: "combined oxidative phosphorylation deficiency 3" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in TSFM" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 3" EXACT [MONDORULE:1, OMIM:610505] -synonym: "concentric cardiomyopathy, hypotonia, and lactic acidosis" RELATED [OMIM:610505] -synonym: "COXPD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610505] -synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" RELATED [OMIM:610505] -synonym: "fatal mitochondrial disease due to COXPD3" EXACT [Orphanet:168566] +synonym: "combined oxidative phosphorylation deficiency type 3" EXACT [MONDORULE:1] +synonym: "concentric cardiomyopathy, hypotonia, and lactic acidosis" RELATED [] +synonym: "COXPD3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" RELATED [] +synonym: "fatal mitochondrial disease due to COXPD3" EXACT [DOID:0111486, Orphanet:168566] synonym: "TSFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111486 {source="MONDO:equivalentTo"} xref: GARD:17035 {source="MONDO:GARD"} @@ -284645,8 +284694,8 @@ subset: rare synonym: "diabetes mellitus MODY type 7" RELATED [GARD:0010661] synonym: "KLF11 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in KLF11" EXACT [] -synonym: "maturity-onset diabetes of the young, type 7" RELATED [MONDO:Lexical, OMIM:610508] -synonym: "maturity-onset diabetes of the young, type VII" EXACT [OMIM:610508, OMIM:genemap2] +synonym: "maturity-onset diabetes of the young, type 7" RELATED [MONDO:Lexical] +synonym: "maturity-onset diabetes of the young, type VII" EXACT [] synonym: "MODY KLF11 related" RELATED [GARD:0010661] synonym: "MODY type 7" RELATED [GARD:0010661] synonym: "MODY7" EXACT ABBREVIATION [DOID:0111106, MONDO:Lexical, OMIM:610508] @@ -284679,14 +284728,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FAM126A leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HLD5" EXACT ABBREVIATION [DOID:0060793, MONDO:Lexical, OMIM:610532] -synonym: "hypomyelinating leukodystrophy type 5" EXACT [DOID:0060793, MONDORULE:1] +synonym: "hypomyelinating leukodystrophy type 5" EXACT [MONDORULE:1] synonym: "hypomyelination - congenital cataract" RELATED [GARD:0011980] synonym: "hypomyelination and congenital cataract" RELATED [GARD:0011980] -synonym: "hypomyelination and congenital cataract: HCC" RELATED [OMIM:610532] -synonym: "hypomyelination-congenital cataract syndrome" EXACT [DOID:0060793] +synonym: "hypomyelination and congenital cataract: HCC" RELATED [] +synonym: "hypomyelination-congenital cataract syndrome" EXACT [DOID:0060793, Orphanet:85163] synonym: "leukodystrophy caused by mutation in FAM126A" EXACT [MONDO:design_pattern] -synonym: "leukodystrophy, hypomyelinating, 5" RELATED [MONDO:Lexical, OMIM:610532] -synonym: "leukodystrophy, hypomyelinating, type 5" EXACT [MONDORULE:1, OMIM:610532] +synonym: "leukodystrophy, hypomyelinating, 5" RELATED [MONDO:Lexical] +synonym: "leukodystrophy, hypomyelinating, type 5" EXACT [MONDORULE:1] xref: DOID:0060793 {source="MONDO:equivalentTo"} xref: GARD:11980 {source="MONDO:GARD"} xref: ICD10CM:G37.8 {source="DOID:0060793", source="Orphanet:85163/attributed", source="Orphanet:85163/ntbt", source="Orphanet:85163"} @@ -284734,16 +284783,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:79113"} subset: orphanet_rare {source="Orphanet:79113"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate" RELATED [OMIM:610536] -synonym: "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" RELATED DEPRECATED [OMIM:610536] +synonym: "Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate" RELATED [] +synonym: "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" RELATED DEPRECATED [] synonym: "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate" RELATED [GARD:0010056] synonym: "Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome" RELATED [GARD:0010056] synonym: "mandibulofacial dysostosis with microcephaly" EXACT [DOID:0080196, OMIM:610536] -synonym: "mandibulofacial dysostosis, Guion-Almeida type" EXACT [MONDO:Lexical, OMIM:610536, Orphanet:79113] -synonym: "mandibulofacial dysostosis-microcephaly syndrome" EXACT CLINGEN_LABEL [] -synonym: "MFDGA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610536] +synonym: "mandibulofacial dysostosis, Guion-Almeida type" EXACT [DOID:0080196, MONDO:Lexical, OMIM:610536, Orphanet:79113] +synonym: "mandibulofacial dysostosis-microcephaly syndrome" EXACT CLINGEN_LABEL [DOID:0080196, Orphanet:79113] +synonym: "MFDGA" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MFDM" RELATED ABBREVIATION [GARD:0010056] -synonym: "MFDM syndrome" EXACT [Orphanet:79113] +synonym: "MFDM syndrome" EXACT [DOID:0080196, Orphanet:79113] xref: DOID:0080196 {source="MONDO:equivalentTo"} xref: GARD:10056 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:79113/attributed", source="Orphanet:79113/ntbt", source="Orphanet:79113"} @@ -284774,10 +284823,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:309252"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atypical Gaucher disease due to saposin C deficiency" EXACT [Orphanet:309252] -synonym: "atypical Gaucher's disease due to saposin c deficiency" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "atypical Gaucher's disease due to saposin c deficiency" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110961, MONDO:LexicalVariant] synonym: "Gaucher disease caused by mutation in PSAP" EXACT [MONDO:design_pattern] synonym: "Gaucher disease, atypical" RELATED [GARD:0012503] -synonym: "Gaucher disease, atypical, due to saposin C deficiency" RELATED [OMIM:610539] +synonym: "Gaucher disease, atypical, due to saposin C deficiency" RELATED [] synonym: "PSAP Gaucher disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110961 {source="MONDO:equivalentTo"} xref: GARD:12503 {source="MONDO:GARD"} @@ -284803,15 +284852,15 @@ comment: This term's classification was reviewed in the context of the Strategic subset: gard_rare {source="GARD:18451", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS12" EXACT ABBREVIATION [DOID:0110660, MONDO:Lexical, OMIM:610542] +synonym: "CMS12" EXACT ABBREVIATION [DOID:0110660, MONDO:Lexical, NCIT:C168997, OMIM:610542] synonym: "congenital myasthenia 12 with tubular aggregates" EXACT [DOID:0110660] -synonym: "congenital myasthenic syndrome type 12" EXACT [DOID:0110660, MONDORULE:2] +synonym: "congenital myasthenic syndrome type 12" EXACT [MONDORULE:2] synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1" EXACT [MONDO:design_pattern] synonym: "GFPT1 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "myasthenia, congenital, 12, with tubular aggregates" EXACT [OMIM:610542, OMIM:genemap2] -synonym: "myasthenic syndrome, congenital, 12" RELATED [MONDO:Lexical, OMIM:610542] -synonym: "myasthenic syndrome, congenital, type 12" EXACT [MONDORULE:2, OMIM:610542] -synonym: "myasthenic syndrome, congenital, with tubular aggregates 1" RELATED [OMIM:610542] +synonym: "myasthenia, congenital, 12, with tubular aggregates" EXACT [] +synonym: "myasthenic syndrome, congenital, 12" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, type 12" EXACT [MONDORULE:2] +synonym: "myasthenic syndrome, congenital, with tubular aggregates 1" RELATED [] xref: DOID:0110660 {source="MONDO:equivalentTo"} xref: GARD:18451 {source="MONDO:GARD"} xref: MEDGEN:765249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -284837,10 +284886,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:353281"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "16p13.3 deletion syndrome" RELATED [GARD:0010754] -synonym: "chromosome 16p13.3 deletion syndrome" RELATED [OMIM:610543, OMIM:genemap2] -synonym: "chromosome 16p13.3 deletion syndrome, proximal" RELATED [OMIM:610543] -synonym: "Rsts deletion syndrome" RELATED [OMIM:610543] -synonym: "Rubinstein-Taybi deletion syndrome" RELATED [OMIM:610543] +synonym: "chromosome 16p13.3 deletion syndrome" RELATED [] +synonym: "chromosome 16p13.3 deletion syndrome, proximal" RELATED [] +synonym: "Rsts deletion syndrome" RELATED [] +synonym: "Rubinstein-Taybi deletion syndrome" RELATED [] xref: GARD:10754 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:353281/attributed", source="Orphanet:353281/ntbt", source="Orphanet:353281"} xref: MEDGEN:350477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -284868,12 +284917,12 @@ subset: ordo_disorder {source="Orphanet:2297"} subset: orphanet_rare {source="Orphanet:2297"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans" RELATED [OMIM:610549] -synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a" RELATED [OMIM:610549] -synonym: "insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans" RELATED [OMIM:610549] +synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans" RELATED [] +synonym: "diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a" RELATED [] +synonym: "insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans" RELATED [] synonym: "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" EXACT [NCIT:C131836] synonym: "insulin-resistant acanthosis nigricans, type A" RELATED [GARD:0003008] -synonym: "Iran, type a" RELATED [OMIM:610549] +synonym: "Iran, type a" RELATED [] synonym: "type A insulin resistance syndrome" EXACT [NCIT:C131836] xref: GARD:3008 {source="MONDO:GARD"} xref: ICD10CM:E13 {source="Orphanet:2297", source="Orphanet:2297/attributed", source="Orphanet:2297/ntbt"} @@ -284901,9 +284950,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Encephalitis, Herpes Simplex" EXACT [NORD:1087] synonym: "Herpes simplex meningo-encephalitis" EXACT [Orphanet:1930] -synonym: "Herpes simplex neuroinvasion" EXACT [Orphanet:1930] -synonym: "Herpes simplex virus encephalitis" RELATED [Orphanet:1930] -synonym: "herpetic encephalitis" EXACT [Orphanet:1930] +synonym: "Herpes simplex neuroinvasion" EXACT [icd11.foundation:320069644, Orphanet:1930] +synonym: "Herpes simplex virus encephalitis" RELATED [] +synonym: "herpetic encephalitis" EXACT [icd11.foundation:320069644, Orphanet:1930] synonym: "HSE" EXACT ABBREVIATION [Orphanet:1930] synonym: "HSV encephalitis" EXACT [Orphanet:1930] synonym: "HSVE" EXACT ABBREVIATION [Orphanet:1930] @@ -284936,12 +284985,12 @@ def: "Any transient neonatal diabetes mellitus in which the cause of the disease subset: gard_rare {source="GARD:15490", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "diabetes mellitus, transient neonatal 3" EXACT [OMIM:610582, OMIM:genemap2] +synonym: "diabetes mellitus, transient neonatal 3" EXACT [] synonym: "diabetes mellitus, transient neonatal, 3" EXACT [OMIM:610582] -synonym: "diabetes mellitus, transient neonatal, type 3" EXACT [MONDORULE:1, OMIM:610582] -synonym: "diabetes mellitus, type II, autosomal dominant" RELATED [OMIM:610582] +synonym: "diabetes mellitus, transient neonatal, type 3" EXACT [MONDORULE:1] +synonym: "diabetes mellitus, type II, autosomal dominant" RELATED [] synonym: "KCNJ11 transient neonatal diabetes mellitus (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "Tndm3" RELATED [OMIM:610582] +synonym: "Tndm3" RELATED [] synonym: "transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11" EXACT [] xref: GARD:15490 {source="MONDO:GARD"} xref: MEDGEN:351177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -284964,9 +285013,9 @@ subset: gard_rare {source="GARD:10403", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PRCD retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 36" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610599] +synonym: "retinitis pigmentosa 36" EXACT CLINGEN_LABEL [DOID:0110405, MONDO:Lexical, OMIM:610599] synonym: "retinitis pigmentosa caused by mutation in PRCD" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 36" EXACT [DOID:0110405, MONDORULE:2, OMIM:610599] +synonym: "retinitis pigmentosa type 36" EXACT [MONDORULE:2] synonym: "RP 36" RELATED [GARD:0010403] synonym: "RP36" EXACT ABBREVIATION [DOID:0110405, MONDO:Lexical, OMIM:610599] xref: DOID:0110405 {source="MONDO:equivalentTo"} @@ -284989,14 +285038,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "18-oxidase deficiency" RELATED [OMIM:610600] -synonym: "aldosterone deficiency 2" RELATED [OMIM:610600] -synonym: "aldosterone deficiency due to deficiency of steroid 18-oxidase" RELATED [OMIM:610600] -synonym: "Cmo 2 deficiency" RELATED [OMIM:610600] -synonym: "corticosterone methyloxidase type II deficiency" RELATED [OMIM:610600] -synonym: "hyperreninemic hypoaldosteronism, familial, 1" RELATED [OMIM:610600] -synonym: "hypoaldosteronism, congenital, due to CMO II deficiency" EXACT [OMIM:610600, OMIM:genemap2] -synonym: "steroid 18-oxidase deficiency" RELATED [OMIM:610600] +synonym: "18-oxidase deficiency" RELATED [] +synonym: "aldosterone deficiency 2" RELATED [] +synonym: "aldosterone deficiency due to deficiency of steroid 18-oxidase" RELATED [] +synonym: "Cmo 2 deficiency" RELATED [] +synonym: "corticosterone methyloxidase type II deficiency" RELATED [] +synonym: "hyperreninemic hypoaldosteronism, familial, 1" RELATED [] +synonym: "hypoaldosteronism, congenital, due to CMO II deficiency" EXACT [] +synonym: "steroid 18-oxidase deficiency" RELATED [] xref: MEDGEN:483046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610600 {source="MONDO:equivalentTo"} xref: Orphanet:427 {source="OMIM:610600"} @@ -285016,9 +285065,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "amaurosis congenita of Leber, type 12" RELATED [GARD:0010489] synonym: "LCA12" EXACT ABBREVIATION [DOID:0110080, MONDO:Lexical, OMIM:610612] -synonym: "Leber congenital amaurosis 12" EXACT [MONDO:Lexical, OMIM:610612] +synonym: "Leber congenital amaurosis 12" EXACT [DOID:0110080, MONDO:Lexical, OMIM:610612] synonym: "Leber congenital amaurosis caused by mutation in RD3" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 12" EXACT [DOID:0110080, MONDORULE:2, OMIM:610612] +synonym: "Leber congenital amaurosis type 12" EXACT [MONDORULE:2] synonym: "RD3 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110080 {source="MONDO:equivalentTo"} xref: GARD:10489 {source="MONDO:GARD"} @@ -285049,21 +285098,21 @@ subset: ordo_etiological_subtype {source="Orphanet:100054"} subset: ordo_subtype_of_a_disorder {source="Orphanet:100054"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "angioedema, hereditary, 3" EXACT [OMIM:610618, OMIM:genemap2] -synonym: "angioedema, hereditary, type 3" RELATED [OMIM:610618] -synonym: "angioedema, hereditary, type III" RELATED [MONDO:Lexical, OMIM:610618] -synonym: "angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function" RELATED [OMIM:610618] -synonym: "estrogen-related Hae" RELATED [OMIM:610618] -synonym: "estrogen-sensitive Hae" RELATED [OMIM:610618] +synonym: "angioedema, hereditary, 3" EXACT [OMIM:610618] +synonym: "angioedema, hereditary, type 3" RELATED [] +synonym: "angioedema, hereditary, type III" RELATED [MONDO:Lexical] +synonym: "angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function" RELATED [] +synonym: "estrogen-related Hae" RELATED [] +synonym: "estrogen-sensitive Hae" RELATED [] synonym: "F12 hereditary angioedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HAE 3" EXACT [Orphanet:100054] -synonym: "Hae 3" RELATED [OMIM:610618] -synonym: "Hae with normal C1 inhibitor concentration and function" RELATED [OMIM:610618] -synonym: "HAE-III" EXACT [Orphanet:100054] -synonym: "HAE3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610618] +synonym: "Hae 3" RELATED [] +synonym: "Hae with normal C1 inhibitor concentration and function" RELATED [] +synonym: "HAE-III" EXACT ABBREVIATION [Orphanet:100054] +synonym: "HAE3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hereditary angioedema caused by mutation in F12" EXACT [MONDO:design_pattern] -synonym: "hereditary angioedema type 3" EXACT CLINGEN_LABEL [] -synonym: "hereditary angioedema with normal C1 inhibitor activity" RELATED [OMIM:610618] +synonym: "hereditary angioedema type 3" EXACT CLINGEN_LABEL [Orphanet:100054] +synonym: "hereditary angioedema with normal C1 inhibitor activity" RELATED [] synonym: "hereditary angioneurotic edema type 3" EXACT [Orphanet:100054] synonym: "hereditary angioneurotic oedema type 3" EXACT OMO:0003005 [] synonym: "inherited estrogen-associated angioedema" EXACT [Orphanet:100054] @@ -285097,12 +285146,12 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 11 with microphthalmia and neurodevelopmental abnormalities" RELATED [OMIM:610623] -synonym: "cataract 11, multiple types" RELATED [MONDO:Lexical, OMIM:610623] -synonym: "cataract 11, syndromic, autosomal recessive" EXACT [OMIM:610623, OMIM:genemap2] -synonym: "cataract, posterior polar, 4" RELATED [OMIM:610623] +synonym: "cataract 11 with microphthalmia and neurodevelopmental abnormalities" RELATED [] +synonym: "cataract 11, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract 11, syndromic, autosomal recessive" EXACT [] +synonym: "cataract, posterior polar, 4" RELATED [] synonym: "CPP4" NARROW ABBREVIATION [DOID:0110249] -synonym: "Cpp4" RELATED [OMIM:610623] +synonym: "Cpp4" RELATED [] synonym: "CTPP4" NARROW ABBREVIATION [DOID:0110249] synonym: "CTRCT11" EXACT ABBREVIATION [DOID:0110249, MONDO:Lexical, OMIM:610623] synonym: "early-onset non-syndromic cataract caused by mutation in PITX3" EXACT [MONDO:design_pattern] @@ -285131,8 +285180,8 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:10772", source="MONDO:GARD"} subset: rare -synonym: "HH4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610628] -synonym: "hypogonadotropic hypogonadism 4 with or without anosmia" EXACT [MONDO:Lexical, OMIM:610628] +synonym: "HH4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 4 with or without anosmia" EXACT [DOID:0090077, MONDO:Lexical, OMIM:610628] synonym: "hypogonadotropic hypogonadism caused by mutation in PROK2" EXACT [MONDO:design_pattern] synonym: "KAL4" NARROW ABBREVIATION [GARD:0010772, https://github.com/monarch-initiative/mondo-build/issues/77] synonym: "Kallman syndrome 4" NARROW [GARD:0010772, https://github.com/monarch-initiative/mondo-build/issues/77] @@ -285163,12 +285212,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "anaemia Diamond-Blackfan 3" RELATED OMO:0003005 [] synonym: "anemia Diamond-Blackfan 3" RELATED [GARD:0010241] -synonym: "DBA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610629] +synonym: "DBA3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS24" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 3" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610629] +synonym: "Diamond-Blackfan anemia 3" EXACT CLINGEN_LABEL [DOID:0111887, MONDO:Lexical, NCIT:C176912, OMIM:610629] synonym: "Diamond-Blackfan anemia caused by mutation in RPS24" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 3" EXACT [MONDORULE:1, OMIM:610629] +synonym: "Diamond-Blackfan Anemia type 3" EXACT [MONDORULE:1] synonym: "RPS24 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS24 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111887 {source="MONDO:equivalentTo"} @@ -285195,9 +285244,9 @@ subset: ordo_disorder {source="Orphanet:85112"} subset: orphanet_rare {source="Orphanet:85112"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "palmoplantar hyperkeratosis and true hermaphroditism" RELATED [OMIM:610644] -synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal" RELATED [OMIM:610644] -synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal" EXACT [OMIM:610644, OMIM:genemap2] +synonym: "palmoplantar hyperkeratosis and true hermaphroditism" RELATED [] +synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal" RELATED [] +synonym: "palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal" EXACT [] synonym: "palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome" EXACT [Orphanet:85112] xref: GARD:16733 {source="MONDO:GARD"} xref: ICD10CM:Q56.0 {source="Orphanet:85112", source="Orphanet:85112/attributed", source="Orphanet:85112/ntbt"} @@ -285222,19 +285271,19 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ERCC3 xeroderma pigmentosum" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "xeroderma pigmentosum B/Cockayne syndrome" RELATED [OMIM:610651] +synonym: "xeroderma pigmentosum B/Cockayne syndrome" RELATED [] synonym: "xeroderma pigmentosum caused by mutation in ERCC3" EXACT [MONDO:design_pattern] -synonym: "xeroderma pigmentosum group B" EXACT CLINGEN_LABEL [] -synonym: "xeroderma pigmentosum group type B" EXACT [DOID:0110850, MONDORULE:1] -synonym: "xeroderma pigmentosum, complementation group B" RELATED [MONDO:Lexical, OMIM:610651] -synonym: "xeroderma pigmentosum, complementation group type B" EXACT [MONDORULE:1, OMIM:610651] -synonym: "xeroderma pigmentosum, group B" EXACT [OMIM:610651, OMIM:genemap2] +synonym: "xeroderma pigmentosum group B" EXACT CLINGEN_LABEL [DOID:0110850, NCIT:C3966] +synonym: "xeroderma pigmentosum group type B" EXACT [MONDORULE:1] +synonym: "xeroderma pigmentosum, complementation group B" RELATED [MONDO:Lexical] +synonym: "xeroderma pigmentosum, complementation group type B" EXACT [MONDORULE:1] +synonym: "xeroderma pigmentosum, group B" EXACT [] synonym: "xeroderma pigmentosum, type 2" RELATED [GARD:0005625] synonym: "XP group B" EXACT [DOID:0110850] synonym: "XP, Group B" EXACT [OMIM:610651] -synonym: "XP-B" EXACT [NCIT:C3966] +synonym: "XP-B" EXACT ABBREVIATION [NCIT:C3966] synonym: "XPB" EXACT ABBREVIATION [DOID:0110850, MONDO:Lexical, OMIM:610651] -synonym: "XPB/CS" RELATED [OMIM:610651] +synonym: "XPB/CS" RELATED [] synonym: "XPBC" EXACT ABBREVIATION [DOID:0110850] xref: DOID:0110850 {source="MONDO:equivalentTo"} xref: GARD:5625 {source="MONDO:GARD"} @@ -285262,8 +285311,8 @@ name: hereditary hemorrhagic telangiectasia type 4 subset: gard_rare {source="GARD:10615", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HHT4" RELATED ABBREVIATION [GARD:0010615, MONDO:Lexical, OMIM:610655] -synonym: "telangiectasia, hereditary hemorrhagic, type 4" RELATED [MONDO:Lexical, OMIM:610655] +synonym: "HHT4" RELATED ABBREVIATION [GARD:0010615, MONDO:Lexical] +synonym: "telangiectasia, hereditary hemorrhagic, type 4" RELATED [MONDO:Lexical] xref: GARD:10615 {source="MONDO:GARD"} xref: MEDGEN:341824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565691 {source="MONDO:equivalentTo"} @@ -285278,7 +285327,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10615/heredi id: MONDO:0012533 name: autism, susceptibility to, 7 subset: predisposition -synonym: "autism susceptibility 7" EXACT [OMIM:610676, OMIM:genemap2] +synonym: "autism susceptibility 7" EXACT [] synonym: "autism, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:610676] synonym: "AUTS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610676] xref: MEDGEN:410155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -285299,11 +285348,11 @@ subset: ordo_disorder {source="Orphanet:254925"} subset: orphanet_rare {source="Orphanet:254925"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation defect type 4" EXACT CLINGEN_LABEL [] -synonym: "combined oxidative phosphorylation deficiency 4" RELATED [MONDO:Lexical, OMIM:610678] +synonym: "combined oxidative phosphorylation defect type 4" EXACT CLINGEN_LABEL [Orphanet:254925] +synonym: "combined oxidative phosphorylation deficiency 4" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in TUFM" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 4" EXACT [MONDORULE:1, OMIM:610678] -synonym: "COXPD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610678, Orphanet:254925] +synonym: "combined oxidative phosphorylation deficiency type 4" EXACT [MONDORULE:1] +synonym: "COXPD4" EXACT ABBREVIATION [DOID:0111494, MONDO:Lexical, OMIM:610678, Orphanet:254925] synonym: "TUFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111494 {source="MONDO:equivalentTo"} xref: GARD:17233 {source="MONDO:GARD"} @@ -285341,15 +285390,15 @@ subset: rare synonym: "CRTAP osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OI type 7" RELATED [GARD:0008701] synonym: "OI type VII" RELATED [GARD:0008701] -synonym: "OI, type 7" RELATED [OMIM:610682] +synonym: "OI, type 7" RELATED [] synonym: "OI7" EXACT ABBREVIATION [DOID:0110337, MONDO:Lexical, OMIM:610682] synonym: "osteogenesis imperfecta caused by mutation in CRTAP" EXACT [MONDO:design_pattern] -synonym: "osteogenesis imperfecta type 7" EXACT CLINGEN_LABEL [] +synonym: "osteogenesis imperfecta type 7" EXACT CLINGEN_LABEL [DOID:0110337] synonym: "osteogenesis imperfecta type VII" EXACT [DOID:0110337] -synonym: "osteogenesis imperfecta, type 7" RELATED [OMIM:610682] -synonym: "osteogenesis imperfecta, type IIb" RELATED [OMIM:610682] -synonym: "osteogenesis imperfecta, type IIb, formerly" RELATED [OMIM:610682] -synonym: "osteogenesis imperfecta, type VII" RELATED [MONDO:Lexical, OMIM:610682] +synonym: "osteogenesis imperfecta, type 7" RELATED [] +synonym: "osteogenesis imperfecta, type IIb" RELATED [] +synonym: "osteogenesis imperfecta, type IIb, formerly" RELATED [] +synonym: "osteogenesis imperfecta, type VII" RELATED [MONDO:Lexical] xref: DOID:0110337 {source="MONDO:equivalentTo"} xref: GARD:8701 {source="MONDO:GARD"} xref: ICD10CM:Q78.0 {source="DOID:0110337"} @@ -285393,10 +285442,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CFL2 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM7" EXACT ABBREVIATION [DOID:0110934, MONDO:Lexical, OMIM:610687] -synonym: "nemaline myopathy 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610687] +synonym: "nemaline myopathy 7" EXACT CLINGEN_LABEL [DOID:0110934, MONDO:Lexical, OMIM:610687] synonym: "nemaline myopathy 7, autosomal recessive" EXACT [DOID:0110934] synonym: "nemaline myopathy caused by mutation in CFL2" EXACT [MONDO:design_pattern] -synonym: "nemaline myopathy type 7" EXACT [DOID:0110934, MONDORULE:1, OMIM:610687] +synonym: "nemaline myopathy type 7" EXACT [MONDORULE:1] xref: DOID:0110934 {source="MONDO:equivalentTo"} xref: GARD:15493 {source="MONDO:GARD"} xref: MEDGEN:343979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -285419,9 +285468,9 @@ subset: gard_rare {source="GARD:15494", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS6" EXACT ABBREVIATION [DOID:0111001, MONDO:Lexical, OMIM:610688] -synonym: "Joubert syndrome 6" EXACT [MONDO:Lexical, OMIM:610688] +synonym: "Joubert syndrome 6" EXACT [DOID:0111001, MONDO:Lexical, OMIM:610688] synonym: "Joubert syndrome caused by mutation in TMEM67" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 6" EXACT [DOID:0111001, MONDORULE:1, OMIM:610688] +synonym: "Joubert syndrome type 6" EXACT [MONDORULE:1] synonym: "TMEM67 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111001 {source="MONDO:equivalentTo"} xref: GARD:15494 {source="MONDO:GARD"} @@ -285442,12 +285491,12 @@ def: "Any age-related macular degeneration in which the cause of the disease is subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "age related macular degeneration type 4" EXACT [DOID:0110017, MONDORULE:1] +synonym: "age related macular degeneration type 4" EXACT [MONDORULE:1] synonym: "age-related macular degeneration caused by mutation in CFH" EXACT [MONDO:design_pattern] synonym: "ARMD4" EXACT ABBREVIATION [DOID:0110017, MONDO:Lexical, OMIM:610698] synonym: "CFH age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "macular degeneration, age-related, 4" RELATED [MONDO:Lexical, OMIM:610698] -synonym: "macular Degeneration, age-related, type 4" EXACT [MONDORULE:1, OMIM:610698] +synonym: "macular degeneration, age-related, 4" RELATED [MONDO:Lexical] +synonym: "macular Degeneration, age-related, type 4" EXACT [MONDORULE:1] xref: DOID:0110017 {source="MONDO:equivalentTo"} xref: MEDGEN:339914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565196 {source="MONDO:equivalentTo"} @@ -285474,11 +285523,11 @@ subset: rare synonym: "congenital deafness with inner ear agenesis microtia and microdontia" RELATED [GARD:0010707] synonym: "deafness congenital with inner ear agenesis microtia and microdontia" RELATED [GARD:0010707] synonym: "deafness with labyrinthine aplasia microtia and microdontia (LAMM)" RELATED [GARD:0010707] -synonym: "deafness with labyrinthine aplasia, microtia, and microdontia" EXACT CLINGEN_LABEL [] -synonym: "deafness with Lamm" RELATED [OMIM:610706] -synonym: "deafness, congenital with inner ear agenesis, microtia, and microdontia" EXACT [OMIM:610706, OMIM:genemap2] -synonym: "deafness, congenital, with inner EAR agenesis, microtia, and microdontia" RELATED [OMIM:610706] -synonym: "deafness, congenital, with labyrinthine aplasia, microtia, and microdontia" RELATED [OMIM:610706] +synonym: "deafness with labyrinthine aplasia, microtia, and microdontia" EXACT CLINGEN_LABEL [Orphanet:90024] +synonym: "deafness with Lamm" RELATED [] +synonym: "deafness, congenital with inner ear agenesis, microtia, and microdontia" EXACT [] +synonym: "deafness, congenital, with inner EAR agenesis, microtia, and microdontia" RELATED [] +synonym: "deafness, congenital, with labyrinthine aplasia, microtia, and microdontia" RELATED [] synonym: "LAMM syndrome" EXACT [Orphanet:90024] synonym: "microdontia-type I microtia-deafness syndrome" EXACT [Orphanet:90024] xref: GARD:10707 {source="MONDO:GARD"} @@ -285500,8 +285549,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012542 name: psoriasis 8, susceptibility to synonym: "psoriasis 8, susceptibility to" EXACT [MONDO:Lexical, OMIM:610707] -synonym: "psoriasis susceptibility 8" EXACT [OMIM:610707, OMIM:genemap2] -synonym: "PSORS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610707] +synonym: "psoriasis susceptibility 8" EXACT [] +synonym: "PSORS8" EXACT ABBREVIATION [DOID:0111288, MONDO:Lexical, OMIM:610707] xref: DOID:0111288 {source="MONDO:equivalentTo"} xref: MEDGEN:377839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610707 {source="MONDO:equivalentTo"} @@ -285518,8 +285567,8 @@ name: optic atrophy 5 subset: gard_rare {source="GARD:10201", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "OPA5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610708] -synonym: "optic atrophy 5" EXACT [MONDO:Lexical, OMIM:610708] +synonym: "OPA5" EXACT ABBREVIATION [DOID:0111438, MONDO:Lexical, OMIM:610708] +synonym: "optic atrophy 5" EXACT [DOID:0111438, MONDO:Lexical, OMIM:610708] xref: DOID:0111438 {source="MONDO:equivalentTo"} xref: GARD:10201 {source="MONDO:GARD"} xref: MEDGEN:377837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -285542,11 +285591,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:93409"} subset: orphanet_rare {source="Orphanet:93409"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BDSD" RELATED ABBREVIATION [OMIM:610713] -synonym: "Bdsd" RELATED [OMIM:610713] -synonym: "brachydactyly-syndactyly syndrome" EXACT [OMIM:610713] -synonym: "brachydactyly-syndactyly, Zhao type" RELATED [Orphanet:93409] -synonym: "brachydactyly-syndactyly-oligodactyly syndrome" RELATED [OMIM:610713] +synonym: "BDSD" RELATED ABBREVIATION [] +synonym: "Bdsd" RELATED [] +synonym: "brachydactyly-syndactyly syndrome" EXACT [DOID:0050689, OMIM:610713] +synonym: "brachydactyly-syndactyly, Zhao type" RELATED [] +synonym: "brachydactyly-syndactyly-oligodactyly syndrome" RELATED [] xref: DOID:0050689 {source="MONDO:equivalentTo"} xref: GARD:16821 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="Orphanet:93409/attributed", source="Orphanet:93409/ntbt", source="Orphanet:93409"} @@ -285569,11 +285618,11 @@ subset: ordo_disorder {source="Orphanet:98908"} subset: orphanet_rare {source="Orphanet:98908"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neutral lipid storage disease with myopathy" RELATED [MONDO:Lexical, OMIM:610717] +synonym: "neutral lipid storage disease with myopathy" RELATED [MONDO:Lexical] synonym: "neutral lipid storage disease with myopathy without ichthyosis" EXACT [Orphanet:98908] -synonym: "neutral lipid storage disease without ichthyosis" RELATED [OMIM:610717] +synonym: "neutral lipid storage disease without ichthyosis" RELATED [] synonym: "NLSDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610717, Orphanet:98908] -synonym: "triglyceride deposit cardiomyovasculopathy" RELATED [Orphanet:98908] +synonym: "triglyceride deposit cardiomyovasculopathy" RELATED [] xref: GARD:10288 {source="MONDO:GARD"} xref: ICD10CM:E75.5 {source="Orphanet:98908/attributed", source="Orphanet:98908/ntbt", source="Orphanet:98908"} xref: icd11.foundation:1512138529 {source="MONDO:equivalentTo"} @@ -285593,9 +285642,9 @@ def: "Any nephrotic syndrome in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:15495", source="MONDO:GARD"} subset: rare synonym: "nephrotic syndrome caused by mutation in PLCE1" EXACT [MONDO:design_pattern] -synonym: "nephrotic syndrome, early-onset, type 3" RELATED [OMIM:610725] +synonym: "nephrotic syndrome, early-onset, type 3" RELATED [] synonym: "nephrotic syndrome, type 3" EXACT [MONDO:Lexical, OMIM:610725] -synonym: "NPHS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610725] +synonym: "NPHS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PLCE1 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080382 {source="MONDO:equivalentTo"} xref: GARD:15495 {source="MONDO:GARD"} @@ -285616,10 +285665,10 @@ def: "Any Noonan syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:10699", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Noonan syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610733] +synonym: "Noonan syndrome 4" EXACT CLINGEN_LABEL [DOID:0060582, MONDO:Lexical, NCIT:C176932, OMIM:610733] synonym: "Noonan syndrome caused by mutation in SOS1" EXACT [MONDO:design_pattern] -synonym: "Noonan syndrome type 4" EXACT [DOID:0060582, MONDORULE:1, OMIM:610733] -synonym: "NS4" EXACT ABBREVIATION [DOID:0060582, MONDO:Lexical, OMIM:610733] +synonym: "Noonan syndrome type 4" EXACT [MONDORULE:1] +synonym: "NS4" EXACT ABBREVIATION [DOID:0060582, MONDO:Lexical, NCIT:C176932, OMIM:610733] synonym: "SOS1 gene related Noonan syndrome" RELATED [GARD:0010699] synonym: "SOS1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060582 {source="MONDO:equivalentTo"} @@ -285647,12 +285696,12 @@ subset: orphanet_rare {source="Orphanet:99749"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "agranulocytosis infantile" RELATED [GARD:0000302] -synonym: "agranulocytosis, infantile" RELATED [OMIM:610738] -synonym: "infantile agranulocytosis" EXACT [Orphanet:99749] -synonym: "Kostmann disease" RELATED [OMIM:610738] -synonym: "neutropenia, severe congenital 3, autosomal recessive" EXACT [OMIM:610738, OMIM:genemap2] -synonym: "neutropenia, severe congenital, 3, autosomal recessive" RELATED [MONDO:Lexical, OMIM:610738] -synonym: "SCN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610738] +synonym: "agranulocytosis, infantile" RELATED [] +synonym: "infantile agranulocytosis" EXACT [DOID:0112133, Orphanet:99749] +synonym: "Kostmann disease" RELATED [] +synonym: "neutropenia, severe congenital 3, autosomal recessive" EXACT [] +synonym: "neutropenia, severe congenital, 3, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "SCN3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "severe congenital neutropenia autosomal recessive 3" RELATED [GARD:0000302] synonym: "severe congenital neutropenia type 3" EXACT [Orphanet:99749] xref: DOID:0112133 {source="MONDO:equivalentTo"} @@ -285680,17 +285729,17 @@ subset: ordo_disorder {source="Orphanet:88644"} subset: orphanet_rare {source="Orphanet:88644"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ARCA1" EXACT ABBREVIATION [Orphanet:88644] -synonym: "ataxia, recessive, of Beauce" RELATED [OMIM:610743] +synonym: "ARCA1" EXACT ABBREVIATION [DOID:0111618, Orphanet:88644] +synonym: "ataxia, recessive, of Beauce" RELATED [] synonym: "autosomal recessive ataxia Beauce type" RELATED [GARD:0012234] -synonym: "autosomal recessive cerebellar ataxia type 1" EXACT [Orphanet:88644] +synonym: "autosomal recessive cerebellar ataxia type 1" EXACT [DOID:0111618, Orphanet:88644] synonym: "autosomal recessive spinocerebellar ataxia 8" RELATED [GARD:0012234] -synonym: "cerebellar ataxia, autosomal recessive, type 1" RELATED [OMIM:610743] +synonym: "cerebellar ataxia, autosomal recessive, type 1" RELATED [] synonym: "recessive ataxia of Beauce" RELATED [GARD:0012234] -synonym: "SCAR8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610743, Orphanet:88644] +synonym: "SCAR8" EXACT ABBREVIATION [DOID:0111618, MONDO:Lexical, OMIM:610743, Orphanet:88644] synonym: "spinocerebellar ataxia autosomal recessive 8" RELATED [GARD:0012234] -synonym: "spinocerebellar ataxia, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:610743] -synonym: "spinocerebellar ataxia, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:610743] +synonym: "spinocerebellar ataxia, autosomal recessive 8" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 8" EXACT [MONDORULE:1] synonym: "SYNE1-related autosomal recessive cerebellar ataxia" RELATED [GARD:0012234] xref: DOID:0111618 {source="MONDO:equivalentTo"} xref: GARD:12234 {source="MONDO:GARD"} @@ -285743,9 +285792,9 @@ subset: rare synonym: "CDKN1B multiple endocrine neoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MEN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610755, Orphanet:276152] synonym: "multiple endocrine neoplasia caused by mutation in CDKN1B" EXACT [MONDO:design_pattern] -synonym: "multiple endocrine neoplasia type 4" EXACT CLINGEN_LABEL [] -synonym: "multiple endocrine neoplasia, type 4" RELATED [OMIM:610755] -synonym: "multiple endocrine neoplasia, type IV" EXACT [DOID:0080137, MONDO:Lexical, OMIM:610755] +synonym: "multiple endocrine neoplasia type 4" EXACT CLINGEN_LABEL [DOID:0080137, icd11.foundation:157945677, NCIT:C157449, Orphanet:276152] +synonym: "multiple endocrine neoplasia, type 4" RELATED [] +synonym: "multiple endocrine neoplasia, type IV" EXACT [DOID:0080137, MONDO:Lexical] xref: DOID:0080137 {source="MONDO:equivalentTo"} xref: GARD:17275 {source="MONDO:GARD"} xref: ICD10CM:D44.8 {source="Orphanet:276152/attributed", source="Orphanet:276152/ntbt", source="Orphanet:276152"} @@ -285773,8 +285822,8 @@ def: "Any COFS syndrome in which the cause of the disease is a mutation in the E subset: gard_rare {source="GARD:15497", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cerebrooculofacioskeletal syndrome 2" EXACT [MONDO:Lexical, OMIM:610756] -synonym: "cerebrooculofacioskeletal syndrome type 2" EXACT [MONDORULE:1, OMIM:610756] +synonym: "cerebrooculofacioskeletal syndrome 2" EXACT [DOID:0080912, MONDO:Lexical, OMIM:610756] +synonym: "cerebrooculofacioskeletal syndrome type 2" EXACT [MONDORULE:1] synonym: "COFS syndrome caused by mutation in ERCC2" EXACT [MONDO:design_pattern] synonym: "COFS2" EXACT ABBREVIATION [OMIM:610756] synonym: "ERCC2 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -285799,10 +285848,10 @@ def: "Any COFS syndrome in which the cause of the disease is a mutation in the E subset: gard_rare {source="GARD:15498", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cerebrooculofacioskeletal syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610758] -synonym: "cerebrooculofacioskeletal syndrome type 4" EXACT [MONDORULE:1, OMIM:610758] +synonym: "cerebrooculofacioskeletal syndrome 4" EXACT CLINGEN_LABEL [DOID:0080914, MONDO:Lexical, NCIT:C173104, OMIM:610758] +synonym: "cerebrooculofacioskeletal syndrome type 4" EXACT [MONDORULE:1] synonym: "COFS syndrome caused by mutation in ERCC1" EXACT [MONDO:design_pattern] -synonym: "COFS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610758] +synonym: "COFS4" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C173104, OMIM:610758] synonym: "ERCC1 COFS syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080914 {source="MONDO:equivalentTo"} xref: GARD:15498 {source="MONDO:GARD"} @@ -285826,12 +285875,12 @@ def: "Any Cornelia de Lange syndrome in which the cause of the disease is a muta subset: gard_rare {source="GARD:15499", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CDLS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610759] -synonym: "Cornelia DE Lange syndrome 3" RELATED [OMIM:610759] -synonym: "Cornelia de Lange syndrome 3" EXACT [MONDO:Lexical, OMIM:610759] +synonym: "CDLS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Cornelia DE Lange syndrome 3" RELATED [] +synonym: "Cornelia de Lange syndrome 3" EXACT [DOID:0080507, MONDO:Lexical] synonym: "Cornelia de Lange syndrome caused by mutation in SMC3" EXACT [] synonym: "Cornelia de Lange syndrome caused by mutation in Smc3" EXACT [MONDO:design_pattern] -synonym: "Cornelia De Lange syndrome type 3" EXACT [MONDORULE:1, OMIM:610759] +synonym: "Cornelia De Lange syndrome type 3" EXACT [MONDORULE:1] synonym: "SMC3 Cornelia de Lange syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Smc3 Cornelia de Lange syndrome" EXACT [MONDO:design_pattern] xref: DOID:0080507 {source="MONDO:equivalentTo"} @@ -285858,18 +285907,18 @@ subset: orphanet_rare {source="Orphanet:91131"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carbohydrate deficient glycoprotein syndrome type Im" EXACT [Orphanet:91131] -synonym: "CDG Im" RELATED [OMIM:610768] +synonym: "CDG Im" RELATED [] synonym: "CDG syndrome type Im" EXACT [Orphanet:91131] synonym: "CDG-Im" EXACT [Orphanet:91131] synonym: "CDG1M" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610768, Orphanet:91131] synonym: "CDGIm" RELATED [GARD:0012393] synonym: "congenital disorder of glycosylation type 1m" EXACT [Orphanet:91131] synonym: "congenital disorder of glycosylation type Im" EXACT [Orphanet:91131] -synonym: "congenital disorder of glycosylation, type Im" RELATED [MONDO:Lexical, OMIM:610768] -synonym: "Dk1 deficiency" RELATED [OMIM:610768] +synonym: "congenital disorder of glycosylation, type Im" RELATED [MONDO:Lexical] +synonym: "Dk1 deficiency" RELATED [] synonym: "DK1-CDG" EXACT ABBREVIATION [Orphanet:91131] synonym: "DK1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] -synonym: "dolichol kinase deficiency" EXACT [OMIM:610768, Orphanet:91131] +synonym: "dolichol kinase deficiency" EXACT [DOID:0080565, OMIM:610768, Orphanet:91131] synonym: "DOLK-CDG (CDG-Im)" RELATED [GARD:0012393] synonym: "hypotonia and ichthyosis due to dolichol phosphate deficiency" EXACT [Orphanet:91131] xref: DOID:0080565 {source="MONDO:equivalentTo"} @@ -285903,8 +285952,8 @@ subset: orphanet_rare {source="Orphanet:91130"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome" EXACT [] -synonym: "mitochondrial phosphate carrier deficiency" RELATED [OMIM:610773] -synonym: "Mpcd" RELATED [OMIM:610773] +synonym: "mitochondrial phosphate carrier deficiency" RELATED [] +synonym: "Mpcd" RELATED [] xref: GARD:16795 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:91130/attributed", source="Orphanet:91130/ntbt", source="Orphanet:91130"} xref: MEDGEN:324373 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -285941,10 +285990,10 @@ subset: ordo_disorder {source="Orphanet:90023"} subset: orphanet_rare {source="Orphanet:90023"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "immunodeficiency due to defect in MAPBP-interacting PROTEIN" RELATED [OMIM:610798] -synonym: "immunodeficiency due to defect in Mapbp-interacting Protein" RELATED [OMIM:610798] +synonym: "immunodeficiency due to defect in MAPBP-interacting PROTEIN" RELATED [] +synonym: "immunodeficiency due to defect in Mapbp-interacting Protein" RELATED [] synonym: "primary immunodeficiency syndrome due to LAMTOR2 deficiency" EXACT [Orphanet:90023] -synonym: "primary immunodeficiency syndrome with short stature" EXACT [Orphanet:90023] +synonym: "primary immunodeficiency syndrome with short stature" EXACT [icd11.foundation:813140844] xref: GARD:16783 {source="MONDO:GARD"} xref: ICD10CM:D82.8 {source="Orphanet:90023", source="Orphanet:90023/attributed", source="Orphanet:90023/ntbt"} xref: icd11.foundation:813140844 {source="MONDO:equivalentTo"} @@ -285976,7 +286025,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "CAKUT1" EXACT ABBREVIATION [OMIM:610805] +synonym: "CAKUT1" EXACT ABBREVIATION [DOID:0080206, OMIM:610805] synonym: "congenital anomalies of kidney and urinary tract 1" EXACT [MONDO:Lexical, OMIM:610805] synonym: "congenital anomaly of kidney and urinary tract caused by mutation in DSTYK" EXACT [MONDO:design_pattern] synonym: "DSTYK congenital anomaly of kidney and urinary tract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -285999,9 +286048,9 @@ def: "Any holoprosencephaly in which the cause of the disease is a mutation in t subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "holoprosencephaly 7" EXACT [MONDO:Lexical, OMIM:610828] +synonym: "holoprosencephaly 7" EXACT [DOID:0110876, MONDO:Lexical, OMIM:610828] synonym: "holoprosencephaly caused by mutation in PTCH1" EXACT [MONDO:design_pattern] -synonym: "holoprosencephaly type 7" EXACT [DOID:0110876, MONDORULE:1, OMIM:610828] +synonym: "holoprosencephaly type 7" EXACT [MONDORULE:1] synonym: "HPE7" EXACT ABBREVIATION [DOID:0110876, MONDO:Lexical, OMIM:610828] synonym: "PTCH1 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110876 {source="MONDO:equivalentTo"} @@ -286023,11 +286072,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GLI2 holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "holoprosencephaly 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610829] +synonym: "holoprosencephaly 9" EXACT CLINGEN_LABEL [DOID:0110873, MONDO:Lexical, OMIM:610829] synonym: "holoprosencephaly caused by mutation in GLI2" EXACT [MONDO:design_pattern] -synonym: "holoprosencephaly type 9" EXACT [DOID:0110873, MONDORULE:1, OMIM:610829] -synonym: "holoprosencephaly with microphthalmia and first branchial Arch anomalies" RELATED [OMIM:610829] -synonym: "holoprosencephaly with microphthalmia and first branchial arch anomalies" EXACT [DOID:0110873] +synonym: "holoprosencephaly type 9" EXACT [MONDORULE:1] +synonym: "holoprosencephaly with microphthalmia and first branchial Arch anomalies" RELATED [] +synonym: "holoprosencephaly with microphthalmia and first branchial arch anomalies" EXACT [DOID:0110873, OMIM:610829] synonym: "HPE9" EXACT ABBREVIATION [DOID:0110873, MONDO:Lexical, OMIM:610829] synonym: "pituitary anomalies with holoprosencephaly-like features" EXACT [DOID:0110873, OMIM:610829] xref: DOID:0110873 {source="MONDO:equivalentTo"} @@ -286068,10 +286117,10 @@ synonym: "FANCN" EXACT ABBREVIATION [DOID:0111094, MONDO:Lexical, OMIM:610832] synonym: "Fanconi anaemia caused by mutation in PALB2" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type N" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in PALB2" EXACT [MONDO:design_pattern] -synonym: "Fanconi anemia complementation group N" EXACT CLINGEN_LABEL [] -synonym: "Fanconi anemia complementation group type N" EXACT [DOID:0111094, MONDORULE:1] -synonym: "Fanconi anemia, complementation group N" RELATED [MONDO:Lexical, OMIM:610832] -synonym: "Fanconi Anemia, complementation group type N" EXACT [MONDORULE:1, OMIM:610832] +synonym: "Fanconi anemia complementation group N" EXACT CLINGEN_LABEL [DOID:0111094] +synonym: "Fanconi anemia complementation group type N" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group N" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type N" EXACT [MONDORULE:1] synonym: "PALB2 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "PALB2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111094 {source="MONDO:equivalentTo"} @@ -286090,7 +286139,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012566 name: autism, susceptibility to, 11 subset: predisposition -synonym: "autism susceptibility 11" EXACT [OMIM:610836, OMIM:genemap2] +synonym: "autism susceptibility 11" EXACT [] synonym: "autism, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:610836] synonym: "AUTS11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610836] xref: MEDGEN:370932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -286105,7 +286154,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012567 name: autism, susceptibility to, 12 subset: predisposition -synonym: "autism susceptibility 12" EXACT [OMIM:610838, OMIM:genemap2] +synonym: "autism susceptibility 12" EXACT [] synonym: "autism, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:610838] synonym: "AUTS12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610838] xref: MEDGEN:410089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -286121,7 +286170,7 @@ id: MONDO:0012568 name: osteoarthritis susceptibility 4 synonym: "OS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610839] synonym: "osteoarthritis susceptibility 4" EXACT [MONDO:Lexical, OMIM:610839] -synonym: "osteoarthritis, generalized, without dysplasia" RELATED [OMIM:610839] +synonym: "osteoarthritis, generalized, without dysplasia" RELATED [] xref: MEDGEN:332068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610839 {source="MONDO:equivalentTo"} xref: UMLS:C1835815 {source="MEDGEN:332068", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -286135,11 +286184,11 @@ name: mitral valve prolapse, myxomatous 3 subset: gard_rare {source="GARD:15501", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "mitral valve prolapse 3" RELATED [OMIM:610840] +synonym: "mitral valve prolapse 3" RELATED [] synonym: "mitral valve prolapse, myxomatous 3" EXACT [MONDO:Lexical, OMIM:610840] -synonym: "MMVP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610840] -synonym: "MVP3" RELATED ABBREVIATION [OMIM:610840] -synonym: "myxomatous mitral valve prolapse 3" RELATED [OMIM:610840] +synonym: "MMVP3" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "MVP3" RELATED ABBREVIATION [] +synonym: "myxomatous mitral valve prolapse 3" RELATED [] xref: GARD:15501 {source="MONDO:GARD"} xref: MEDGEN:372132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563655 {source="MONDO:equivalentTo"} @@ -286157,9 +286206,9 @@ subset: ordo_disorder {source="Orphanet:91135"} subset: orphanet_rare {source="Orphanet:91135"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" RELATED [OMIM:610842] +synonym: "pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" RELATED [] synonym: "pseudoxanthoma elasticum-like syndrome" EXACT [Orphanet:91135] -synonym: "PXE-like disorder with multiple coagulation Factor deficiency" RELATED [OMIM:610842] +synonym: "PXE-like disorder with multiple coagulation Factor deficiency" RELATED [] synonym: "PXE-like syndrome" EXACT [Orphanet:91135] xref: GARD:16796 {source="MONDO:GARD"} xref: ICD10CM:D68.4 {source="Orphanet:91135", source="Orphanet:91135/attributed", source="Orphanet:91135/ntbt"} @@ -286184,11 +286233,11 @@ subset: gard_rare {source="GARD:15502", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD6" EXACT ABBREVIATION [DOID:0110606, MONDO:Lexical, OMIM:610852] -synonym: "ciliary dyskinesia, primary, 6" RELATED [MONDO:Lexical, OMIM:610852] -synonym: "ciliary dyskinesia, primary, type 6" EXACT [MONDORULE:1, OMIM:610852] +synonym: "ciliary dyskinesia, primary, 6" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, type 6" EXACT [MONDORULE:1] synonym: "NME8 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia caused by mutation in NME8" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 6" EXACT [DOID:0110606, MONDORULE:1] +synonym: "primary ciliary dyskinesia type 6" EXACT [MONDORULE:1] xref: DOID:0110606 {source="MONDO:equivalentTo"} xref: GARD:15502 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110606"} @@ -286206,9 +286255,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012572 name: Sakoda complex synonym: "Sakoda complex" EXACT [OMIM:610871] -synonym: "Sakoda spectrum" RELATED [OMIM:610871] +synonym: "Sakoda spectrum" RELATED [] synonym: "sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate" RELATED [GARD:0009695] -synonym: "sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate" RELATED [OMIM:610871] +synonym: "sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate" RELATED [] xref: MEDGEN:370271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567055 {source="MONDO:equivalentTo"} xref: OMIM:610871 {source="MONDO:equivalentTo"} @@ -286226,8 +286275,8 @@ subset: rare synonym: "ROBO2 vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "vesicoureteral reflux (disease) caused by mutation in ROBO2" EXACT [] synonym: "vesicoureteral reflux 2" EXACT [MONDO:Lexical, OMIM:610878] -synonym: "vesicoureteral reflux type 2" EXACT [MONDORULE:1, OMIM:610878] -synonym: "VUR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610878] +synonym: "vesicoureteral reflux type 2" EXACT [MONDORULE:1] +synonym: "VUR2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18419 {source="MONDO:GARD"} xref: MEDGEN:370270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567053 {source="MONDO:equivalentTo"} @@ -286251,15 +286300,15 @@ subset: orphanet_rare {source="Orphanet:1713"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "17p11.2 Duplication syndrome" EXACT [NCIT:C124846] -synonym: "17p11.2 microduplication syndrome" EXACT [DOID:0060853] -synonym: "chromosome 17P11.2 Duplication syndrome" RELATED [OMIM:610883] -synonym: "chromosome 17p11.2 duplication syndrome" EXACT [DOID:0060853] +synonym: "17p11.2 microduplication syndrome" EXACT [DOID:0060853, Orphanet:1713] +synonym: "chromosome 17P11.2 Duplication syndrome" RELATED [] +synonym: "chromosome 17p11.2 duplication syndrome" EXACT [DOID:0060853, OMIM:610883] synonym: "Duplication 17p11.2 syndrome" RELATED [GARD:0010145] -synonym: "Potocki-Lupski syndrome" EXACT [MONDO:Lexical, OMIM:610883, Orphanet:1713] +synonym: "Potocki-Lupski syndrome" EXACT [DOID:0060853, icd11.foundation:1720095972, MONDO:Lexical, NCIT:C124846, OMIM:610883, Orphanet:1713] synonym: "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))" RELATED [GARD:0010145] -synonym: "Potocki-Lupski syndrome, Isolated cases" EXACT [OMIM:610883, OMIM:genemap2] -synonym: "PTLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610883] -synonym: "trisomy 17p11.2" EXACT [DOID:0060853, Orphanet:1713] +synonym: "Potocki-Lupski syndrome, Isolated cases" EXACT [] +synonym: "PTLS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "trisomy 17p11.2" EXACT [DOID:0060853, icd11.foundation:1720095972, Orphanet:1713] xref: DECIPHER:19 {source="MONDO:equivalentTo"} xref: DOID:0060853 {source="MONDO:equivalentTo"} xref: GARD:10145 {source="MONDO:GARD"} @@ -286285,10 +286334,10 @@ name: branchiootorenal syndrome 2 def: "Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15503", source="MONDO:GARD"} subset: rare -synonym: "BOR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610896] +synonym: "BOR2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "branchio-oto-renal syndrome caused by mutation in SIX5" EXACT [MONDO:design_pattern] -synonym: "branchiootorenal syndrome 2" EXACT [MONDO:Lexical, OMIM:610896] -synonym: "branchiootorenal syndrome type 2" EXACT [MONDORULE:1, OMIM:610896] +synonym: "branchiootorenal syndrome 2" EXACT [DOID:0111424, MONDO:Lexical, OMIM:610896] +synonym: "branchiootorenal syndrome type 2" EXACT [MONDORULE:1] synonym: "SIX5 branchio-oto-renal syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111424 {source="MONDO:equivalentTo"} xref: GARD:15503 {source="MONDO:GARD"} @@ -286323,10 +286372,10 @@ is_a: MONDO:0019037 {source="OMIM:610898", source="Orphanet:240071/btnt"} ! prog id: MONDO:0012577 name: asthma-related traits, susceptibility to, 4 subset: predisposition -synonym: "ASRT4" RELATED ABBREVIATION [OMIM:610906] -synonym: "asthma and allergic rhinitis, susceptibility to" RELATED [OMIM:610906] +synonym: "ASRT4" RELATED ABBREVIATION [] +synonym: "asthma and allergic rhinitis, susceptibility to" RELATED [] synonym: "asthma-related traits, susceptibility to, 4" EXACT [OMIM:610906] -synonym: "asthma-related traits, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:610906] +synonym: "asthma-related traits, susceptibility to, type 4" EXACT [MONDORULE:1] xref: MEDGEN:370920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610906 {source="MONDO:equivalentTo"} xref: UMLS:C1970474 {source="MEDGEN:370920", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -286336,7 +286385,7 @@ is_a: MONDO:0010940 {source="https://orcid.org/0000-0002-6601-2165"} ! inherited id: MONDO:0012578 name: autism, susceptibility to, 13 subset: predisposition -synonym: "autism susceptibility 13" EXACT [OMIM:610908, OMIM:genemap2] +synonym: "autism susceptibility 13" EXACT [] synonym: "autism, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:610908] synonym: "AUTS13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610908] xref: MEDGEN:410080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -286359,19 +286408,19 @@ subset: rare synonym: "acquired pulmonary alveolar proteinosis" RELATED [GARD:0007499] synonym: "APAP" EXACT ABBREVIATION [Orphanet:747] synonym: "autoimmune PAP" EXACT [Orphanet:747] -synonym: "idiopathic PAP" EXACT [Orphanet:747] -synonym: "idiopathic pulmonary alveolar proteinosis" EXACT [Orphanet:747] -synonym: "iPAP" EXACT [Orphanet:747] +synonym: "idiopathic PAP" EXACT [] +synonym: "idiopathic pulmonary alveolar proteinosis" EXACT [icd11.foundation:676409940] +synonym: "iPAP" EXACT [] synonym: "PAP" RELATED ABBREVIATION [GARD:0007499] synonym: "PAP acquired" RELATED [GARD:0007499] -synonym: "Pap, acquired" RELATED [OMIM:610910] +synonym: "Pap, acquired" RELATED [] synonym: "pulmonary alveolar lipoproteinosis acquired" RELATED [GARD:0007499] -synonym: "pulmonary alveolar lipoproteinosis, acquired" RELATED [OMIM:610910] +synonym: "pulmonary alveolar lipoproteinosis, acquired" RELATED [] synonym: "Pulmonary Alveolar Proteinosis" EXACT [NORD:1633] synonym: "pulmonary alveolar proteinosis acquired" RELATED [GARD:0007499] synonym: "pulmonary alveolar proteinosis autoimmune" RELATED [GARD:0007499] -synonym: "pulmonary alveolar proteinosis, acquired" RELATED [OMIM:610910] -synonym: "pulmonary alveolar proteinosis, autoimmune" RELATED [OMIM:610910] +synonym: "pulmonary alveolar proteinosis, acquired" RELATED [] +synonym: "pulmonary alveolar proteinosis, autoimmune" RELATED [] xref: GARD:7499 {source="MONDO:GARD"} xref: ICD10CM:J84.0 {source="Orphanet:747", source="Orphanet:747/ntbt"} xref: icd11.foundation:676409940 {source="MONDO:equivalentTo"} @@ -286402,11 +286451,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital PAP" EXACT [GARD:0004582, Orphanet:264675] synonym: "congenital pulmonary alveolar proteinosis" EXACT [Orphanet:264675] -synonym: "hereditary pulmonary alveolar proteinosis" EXACT [MONDO:patterns/hereditary] +synonym: "hereditary pulmonary alveolar proteinosis" EXACT [MONDO:patterns/hereditary, Orphanet:264675] synonym: "inborn error of pulmonary surfactant metabolism" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "inborn error of surfactant metabolism" EXACT [https://orcid.org/0009-0007-1636-9645] synonym: "pulmonary alveolar proteinosis, congenital" RELATED [GARD:0004582] -synonym: "sufactant metabolism dysfunction, pulmonary" RELATED [OMIMPS:265120] +synonym: "sufactant metabolism dysfunction, pulmonary" RELATED [] xref: GARD:4582 {source="MONDO:GARD"} xref: ICD10CM:J84.0 {source="Orphanet:264675", source="Orphanet:264675/attributed", source="Orphanet:264675/ntbt"} xref: MEDGEN:777976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -286435,13 +286484,13 @@ subset: gard_rare {source="GARD:10152", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "OI type VIII" RELATED [GARD:0010152] -synonym: "OI, type 8" RELATED [OMIM:610915] +synonym: "OI, type 8" RELATED [] synonym: "OI8" EXACT ABBREVIATION [DOID:0110336, MONDO:Lexical, OMIM:610915] synonym: "osteogenesis imperfecta caused by mutation in P3H1" EXACT [MONDO:design_pattern] -synonym: "osteogenesis imperfecta type 8" EXACT CLINGEN_LABEL [] +synonym: "osteogenesis imperfecta type 8" EXACT CLINGEN_LABEL [DOID:0110336] synonym: "osteogenesis imperfecta type VIII" EXACT [DOID:0110336] -synonym: "osteogenesis imperfecta, type 8" RELATED [OMIM:610915] -synonym: "osteogenesis imperfecta, type VIII" RELATED [MONDO:Lexical, OMIM:610915] +synonym: "osteogenesis imperfecta, type 8" RELATED [] +synonym: "osteogenesis imperfecta, type VIII" RELATED [MONDO:Lexical] synonym: "P3H1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110336 {source="MONDO:equivalentTo"} xref: GARD:10152 {source="MONDO:GARD"} @@ -286469,12 +286518,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:440402"} subset: orphanet_rare {source="Orphanet:440402"} subset: rare -synonym: "interstitial lung disease due to ABCA3 deficiency" EXACT [OMIM:610921] +synonym: "interstitial lung disease due to ABCA3 deficiency" EXACT [OMIM:610921, Orphanet:440402] synonym: "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency" EXACT [Orphanet:440402] -synonym: "pulmonary alveolar proteinosis, congenital, 3" RELATED [OMIM:610921] -synonym: "SMDP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610921] -synonym: "surfactant metabolism dysfunction, pulmonary, 3" RELATED [MONDO:Lexical, OMIM:610921] -synonym: "surfactant metabolism dysfunction, pulmonary, type 3" EXACT [MONDORULE:1, OMIM:610921] +synonym: "pulmonary alveolar proteinosis, congenital, 3" RELATED [] +synonym: "SMDP3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "surfactant metabolism dysfunction, pulmonary, 3" RELATED [MONDO:Lexical] +synonym: "surfactant metabolism dysfunction, pulmonary, type 3" EXACT [MONDORULE:1] xref: GARD:17745 {source="MONDO:GARD"} xref: ICD10CM:J84.8 {source="Orphanet:440402", source="Orphanet:440402/attributed", source="Orphanet:440402/ntbt"} xref: MEDGEN:410074 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -286492,8 +286541,8 @@ id: MONDO:0012583 name: tooth agenesis, selective, 5 subset: gard_rare {source="GARD:18248", source="MONDO:GARD"} subset: rare -synonym: "he-Zhao deficiency" RELATED [OMIM:610926] -synonym: "hypodontia/oligodontia 5" RELATED [OMIM:610926] +synonym: "he-Zhao deficiency" RELATED [] +synonym: "hypodontia/oligodontia 5" RELATED [] synonym: "STHAG5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:610926] synonym: "tooth agenesis, selective, 5" EXACT [MONDO:Lexical, OMIM:610926] xref: GARD:18248 {source="MONDO:GARD"} @@ -286511,11 +286560,11 @@ name: systemic lupus erythematosus, susceptibility to, 9 def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "CR2 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "SLEB9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610927] -synonym: "susceptibility to systemic lupus erythematosus 9" RELATED [OMIM:610927] +synonym: "SLEB9" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to systemic lupus erythematosus 9" RELATED [] synonym: "systemic lupus erythematosus (disease) caused by mutation in CR2" EXACT [] synonym: "systemic lupus erythematosus, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:610927] -synonym: "systemic lupus erythematosus, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:610927] +synonym: "systemic lupus erythematosus, susceptibility to, type 9" EXACT [MONDORULE:1] xref: MEDGEN:369736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200801 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: OMIM:610927 {source="MONDO:equivalentTo"} @@ -286532,11 +286581,11 @@ name: coronary heart disease, susceptibility to, 7 def: "Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "CD36 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "CHDS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610938] +synonym: "CHDS7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "coronary artery disease caused by mutation in CD36" EXACT [MONDO:design_pattern] synonym: "coronary heart disease, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:610938] -synonym: "coronary heart disease, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:610938] -synonym: "susceptibility to coronary heart disease 7" RELATED [OMIM:610938] +synonym: "coronary heart disease, susceptibility to, type 7" EXACT [MONDORULE:1] +synonym: "susceptibility to coronary heart disease 7" RELATED [] xref: MEDGEN:370260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610938 {source="MONDO:equivalentTo"} xref: UMLS:C1970441 {source="MEDGEN:370260", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -286550,11 +286599,11 @@ id: MONDO:0012586 name: coronary artery disease, autosomal dominant 2 def: "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." [MONDO:patterns/disease_series_by_gene] subset: otar {source="MONDO:OTAR"} -synonym: "ADCAD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610947] +synonym: "ADCAD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "coronary artery disease caused by mutation in LRP6" EXACT [MONDO:design_pattern] synonym: "coronary artery disease, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:610947] -synonym: "coronary artery disease, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:610947] -synonym: "coronary artery disease, autosomal dominant, 2" EXACT [OMIM:610947, OMIM:genemap2] +synonym: "coronary artery disease, autosomal dominant type 2" EXACT [MONDORULE:1] +synonym: "coronary artery disease, autosomal dominant, 2" EXACT [] synonym: "LRP6 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:370259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567045 {source="MONDO:equivalentTo"} @@ -286573,8 +286622,8 @@ id: MONDO:0012587 name: hypertension, essential, susceptibility to, 7 subset: predisposition synonym: "hypertension, essential, susceptibility to, 7" EXACT [OMIM:610948] -synonym: "hypertension, essential, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:610948] -synonym: "Hyt7" RELATED [OMIM:610948] +synonym: "hypertension, essential, susceptibility to, type 7" EXACT [MONDORULE:1] +synonym: "Hyt7" RELATED [] xref: MEDGEN:370258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610948 {source="MONDO:equivalentTo"} xref: UMLS:C1970439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370258"} @@ -286595,15 +286644,15 @@ subset: ordo_etiological_subtype {source="Orphanet:228366"} subset: orphanet_rare {source="Orphanet:228366"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ceroid lipofuscinosis, neuronal, 7" RELATED [MONDO:Lexical, OMIM:610951] -synonym: "ceroid lipofuscinosis, neuronal, type 7" EXACT [MONDORULE:1, OMIM:610951] +synonym: "ceroid lipofuscinosis, neuronal, 7" RELATED [MONDO:Lexical] +synonym: "ceroid lipofuscinosis, neuronal, type 7" EXACT [MONDORULE:1] synonym: "CLN7" EXACT ABBREVIATION [DOID:0110722, MONDO:Lexical, OMIM:610951] synonym: "CLN7 disease" RELATED [GARD:0001220] synonym: "CLN7 disease, late infantile" RELATED [GARD:0001220] synonym: "MFSD8 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "neuronal ceroid lipofuscinosis 7" EXACT CLINGEN_LABEL [] +synonym: "neuronal ceroid lipofuscinosis 7" EXACT CLINGEN_LABEL [DOID:0110722] synonym: "neuronal ceroid lipofuscinosis caused by mutation in MFSD8" EXACT [MONDO:design_pattern] -synonym: "neuronal ceroid lipofuscinosis type 7" EXACT [DOID:0110722, MONDORULE:1] +synonym: "neuronal ceroid lipofuscinosis type 7" EXACT [MONDORULE:1] xref: DOID:0110722 {source="MONDO:equivalentTo"} xref: GARD:1220 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="DOID:0110722", source="Orphanet:228366/attributed", source="Orphanet:228366/ntbt", source="Orphanet:228366"} @@ -286632,13 +286681,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:2896"} subset: orphanet_rare {source="Orphanet:2896"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "encephalopathy, Severe epileptic, with autonomic dysfunction" RELATED [OMIM:610954] -synonym: "intellectual disability, Syndromal, with intermittent hyperventilation" RELATED [OMIM:610954] +synonym: "encephalopathy, Severe epileptic, with autonomic dysfunction" RELATED [] +synonym: "intellectual disability, Syndromal, with intermittent hyperventilation" RELATED [] synonym: "intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea" RELATED [GARD:0004372] -synonym: "mental retardation, Syndromal, with intermittent hyperventilation" RELATED DEPRECATED [OMIM:610954] +synonym: "mental retardation, Syndromal, with intermittent hyperventilation" RELATED DEPRECATED [] synonym: "Pitt Hopkins syndrome" RELATED [GARD:0004372] -synonym: "Pitt-Hopkins syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:610954] -synonym: "PTHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610954] +synonym: "Pitt-Hopkins syndrome" EXACT CLINGEN_LABEL [DOID:0060488, icd11.foundation:2040786134, MONDO:Lexical, NCIT:C129872, OMIM:610954, Orphanet:2896] +synonym: "PTHS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0060488 {source="MONDO:equivalentTo"} xref: GARD:4372 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:2896/attributed", source="Orphanet:2896/ntbt", source="Orphanet:2896"} @@ -286666,8 +286715,8 @@ id: MONDO:0012590 name: XFE progeroid syndrome def: "A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13." [DOID:0060590, PMID:17183314] subset: otar {source="MONDO:OTAR"} -synonym: "XFE progeroid syndrome" EXACT [MONDO:Lexical, OMIM:610965] -synonym: "XFEPS" EXACT ABBREVIATION [DOID:0060590, MONDO:Lexical, OMIM:610965] +synonym: "XFE progeroid syndrome" EXACT [DOID:0060590, MONDO:Lexical, NCIT:C173111, OMIM:610965] +synonym: "XFEPS" EXACT ABBREVIATION [DOID:0060590, MONDO:Lexical, NCIT:C173111, OMIM:610965] synonym: "XPF-ERCC1 progeroid syndrome" EXACT [DOID:0060590, OMIM:610965] xref: DOID:0060590 {source="MONDO:equivalentTo"} xref: MEDGEN:410064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -286693,12 +286742,12 @@ synonym: "IFITM5 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:pat synonym: "OI type 5" EXACT [Orphanet:216828] synonym: "OI type V" RELATED [GARD:0008699] synonym: "OI with calcification in interosseous membranes" RELATED [GARD:0008699] -synonym: "OI, type 5" RELATED [OMIM:610967] +synonym: "OI, type 5" RELATED [] synonym: "OI5" EXACT ABBREVIATION [DOID:0110344, MONDO:Lexical, OMIM:610967] synonym: "osteogenesis imperfecta caused by mutation in IFITM5" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type V" EXACT [DOID:0110344] -synonym: "osteogenesis imperfecta, type 5" RELATED [OMIM:610967] -synonym: "osteogenesis imperfecta, type V" RELATED [MONDO:Lexical, OMIM:610967] +synonym: "osteogenesis imperfecta, type 5" RELATED [] +synonym: "osteogenesis imperfecta, type V" RELATED [MONDO:Lexical] synonym: "type V OI" RELATED [GARD:0008699] xref: DOID:0110344 {source="MONDO:equivalentTo"} xref: GARD:8699 {source="MONDO:GARD"} @@ -286727,12 +286776,12 @@ subset: rare synonym: "FKBP10 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OI type 11" RELATED [GARD:0012875] synonym: "OI type XI" RELATED [GARD:0012875] -synonym: "OI, type 11" RELATED [OMIM:610968] +synonym: "OI, type 11" RELATED [] synonym: "OI11" EXACT ABBREVIATION [DOID:0110351, MONDO:Lexical, OMIM:610968] synonym: "osteogenesis imperfecta caused by mutation in FKBP10" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XI" EXACT [DOID:0110351] -synonym: "osteogenesis imperfecta, type 11" RELATED [OMIM:610968] -synonym: "osteogenesis imperfecta, type XI" RELATED [MONDO:Lexical, OMIM:610968] +synonym: "osteogenesis imperfecta, type 11" RELATED [] +synonym: "osteogenesis imperfecta, type XI" RELATED [MONDO:Lexical] xref: DOID:0110351 {source="MONDO:equivalentTo"} xref: GARD:12875 {source="MONDO:GARD"} xref: ICD10CM:Q78.0 {source="DOID:0110351"} @@ -286760,10 +286809,10 @@ subset: orphanet_rare {source="Orphanet:209905"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BLT syndrome" RELATED [GARD:0012163] -synonym: "brain-lung-thyroid syndrome" EXACT [OMIM:610978] -synonym: "CAHTP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610978] -synonym: "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" RELATED [GARD:0012163, MONDO:Lexical, OMIM:610978] -synonym: "choreoathetosis, hypothyroidism, and neonatal respiratory distress" EXACT [OMIM:610978, OMIM:genemap2] +synonym: "brain-lung-thyroid syndrome" EXACT [icd11.foundation:809856670, OMIM:610978, Orphanet:209905] +synonym: "CAHTP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" RELATED [GARD:0012163, MONDO:Lexical] +synonym: "choreoathetosis, hypothyroidism, and neonatal respiratory distress" EXACT [] synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress" RELATED [GARD:0012163] synonym: "choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome" EXACT [Orphanet:209905] xref: GARD:12163 {source="MONDO:GARD"} @@ -286798,12 +286847,12 @@ subset: ordo_disorder {source="Orphanet:200418"} subset: orphanet_rare {source="Orphanet:200418"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "C3 inactivator deficiency" EXACT [DOID:0050419] -synonym: "CFID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610984] +synonym: "C3 inactivator deficiency" EXACT [DOID:0050419, OMIM:610984] +synonym: "CFID" RELATED ABBREVIATION [MONDO:Lexical] synonym: "complement component 3 inactivator deficiency" EXACT [DOID:0050419, OMIM:610984] -synonym: "complement Factor 1 deficiency" RELATED [OMIM:610984] -synonym: "complement factor I deficiency" EXACT [MONDO:Lexical, OMIM:610984] -synonym: "immunodeficiency with factor I anomaly" RELATED [Orphanet:200418] +synonym: "complement Factor 1 deficiency" RELATED [] +synonym: "complement factor I deficiency" EXACT [DOID:0050419, MONDO:Lexical] +synonym: "immunodeficiency with factor I anomaly" RELATED [] xref: DOID:0050419 {source="MONDO:equivalentTo"} xref: GARD:17098 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="Orphanet:200418", source="Orphanet:200418/attributed", source="Orphanet:200418/ntbt"} @@ -286823,12 +286872,12 @@ name: leprosy, susceptibility to, 4 def: "Any leprosy in which the cause of the disease is a mutation in the LTA gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "leprosy caused by mutation in LTA" EXACT [MONDO:design_pattern] -synonym: "leprosy, early-onset, susceptibility to" RELATED [OMIM:610988] +synonym: "leprosy, early-onset, susceptibility to" RELATED [] synonym: "leprosy, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:610988] -synonym: "leprosy, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:610988] -synonym: "LPRS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610988] +synonym: "leprosy, susceptibility to, type 4" EXACT [MONDORULE:1] +synonym: "LPRS4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "LTA leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to leprosy 4" RELATED [OMIM:610988] +synonym: "susceptibility to leprosy 4" RELATED [] xref: MEDGEN:370866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610988 {source="MONDO:equivalentTo"} xref: Orphanet:548 {source="OMIM:610988"} @@ -286848,8 +286897,8 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:284417"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "phosphoserine aminotransferase deficiency" EXACT [DOID:0050723, MONDO:Lexical, OMIM:610992] -synonym: "PSAT deficiency" EXACT [OMIM:610992, Orphanet:284417] -synonym: "PSATD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:610992] +synonym: "PSAT deficiency" EXACT [DOID:0050723, OMIM:610992] +synonym: "PSATD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050723 {source="MONDO:equivalentTo"} xref: GARD:13273 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:284417/attributed", source="Orphanet:284417/ntbt", source="Orphanet:284417"} @@ -286868,9 +286917,9 @@ id: MONDO:0012597 name: prostate cancer, hereditary, 9 subset: gard_rare {source="GARD:15505", source="MONDO:GARD"} subset: rare -synonym: "HPC9" RELATED ABBREVIATION [OMIM:610997] +synonym: "HPC9" RELATED ABBREVIATION [] synonym: "prostate cancer, hereditary, 9" EXACT [OMIM:610997] -synonym: "prostate cancer, hereditary, type 9" EXACT [MONDORULE:1, OMIM:610997] +synonym: "prostate cancer, hereditary, type 9" EXACT [MONDORULE:1] xref: GARD:15505 {source="MONDO:GARD"} xref: MEDGEN:369689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567031 {source="MONDO:equivalentTo"} @@ -286887,8 +286936,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "fibromatosis gingival, hereditary, 4" RELATED [GARD:0002475] synonym: "fibromatosis, gingival, 4" EXACT [MONDO:Lexical, OMIM:611010] -synonym: "fibromatosis, gingival, hereditary, 4" RELATED [OMIM:611010] -synonym: "GGF4" RELATED ABBREVIATION [OMIM:611010] +synonym: "fibromatosis, gingival, hereditary, 4" RELATED [] +synonym: "GGF4" RELATED ABBREVIATION [] synonym: "GINGF4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611010] synonym: "gingival fibromatosis, 4" RELATED [GARD:0002475] synonym: "hereditary gingival fibromatosis, 4" RELATED [GARD:0002475] @@ -286949,14 +286998,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22626", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 24" NARROW [DOID:0110482] -synonym: "autosomal recessive nonsyndromic deafness 24" NARROW [OMIM:611022] +synonym: "autosomal recessive deafness 24" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 24" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in RDX" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 24" NARROW [DOID:0110482, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 24" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 24" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 24" NARROW [MONDO:Lexical, OMIM:611022, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 24" NARROW [MONDORULE:2, OMIM:611022] -synonym: "DFNB24" NARROW ABBREVIATION [DOID:0110482, MONDO:Lexical, OMIM:611022] +synonym: "deafness, autosomal recessive 24" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 24" NARROW [MONDORULE:2] +synonym: "DFNB24" NARROW ABBREVIATION [MONDO:Lexical] synonym: "RDX autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110482 {source="MONDO:equivalentTo"} xref: GARD:22626 {source="MONDO:GARD"} @@ -286979,10 +287028,10 @@ def: "A dystonia characterized by autosomal dominant inheritance of recurrent br subset: gard_rare {source="GARD:15506", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "dystonia 19" RELATED [OMIM:611031] -synonym: "EKD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611031] -synonym: "episodic kinesigenic dyskinesia 2" EXACT [MONDO:Lexical, OMIM:611031] -synonym: "episodic kinesigenic dyskinesia type 2" EXACT [DOID:0090054, MONDORULE:1] +synonym: "dystonia 19" RELATED [] +synonym: "EKD2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "episodic kinesigenic dyskinesia 2" EXACT [DOID:0090054, MONDO:Lexical, OMIM:611031] +synonym: "episodic kinesigenic dyskinesia type 2" EXACT [MONDORULE:1] xref: DOID:0090054 {source="MONDO:equivalentTo"} xref: GARD:15506 {source="MONDO:GARD"} xref: ICD10CM:G24.8 {source="DOID:0090054"} @@ -287002,13 +287051,13 @@ def: "Any isolated microphthalmia in which the cause of the disease is a mutatio subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "isolated microphthalmia 3" EXACT CLINGEN_LABEL [] +synonym: "isolated microphthalmia 3" EXACT CLINGEN_LABEL [DOID:0060842] synonym: "isolated microphthalmia caused by mutation in RAX" EXACT [] synonym: "isolated microphthalmia caused by mutation in rax" EXACT [MONDO:design_pattern] -synonym: "isolated microphthalmia type 3" EXACT [DOID:0060842, MONDORULE:1] -synonym: "MCOP3" EXACT ABBREVIATION [DOID:0060842, MONDO:Lexical, OMIM:611038] -synonym: "microphthalmia, isolated 3" RELATED [MONDO:Lexical, OMIM:611038] -synonym: "microphthalmia, isolated type 3" EXACT [MONDORULE:1, OMIM:611038] +synonym: "isolated microphthalmia type 3" EXACT [MONDORULE:1] +synonym: "MCOP3" EXACT ABBREVIATION [DOID:0060842, MONDO:Lexical] +synonym: "microphthalmia, isolated 3" RELATED [MONDO:Lexical] +synonym: "microphthalmia, isolated type 3" EXACT [MONDORULE:1] synonym: "RAX isolated microphthalmia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "rax isolated microphthalmia" EXACT [MONDO:design_pattern] xref: DOID:0060842 {source="MONDO:equivalentTo"} @@ -287034,20 +287083,20 @@ subset: ordo_disorder {source="Orphanet:251279"} subset: orphanet_rare {source="Orphanet:251279"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "isolated microphthalmia 5" EXACT CLINGEN_LABEL [] +synonym: "isolated microphthalmia 5" EXACT CLINGEN_LABEL [DOID:0060837] synonym: "isolated microphthalmia caused by mutation in MFRP" EXACT [MONDO:design_pattern] -synonym: "isolated microphthalmia type 5" EXACT [DOID:0060837, MONDORULE:1] +synonym: "isolated microphthalmia type 5" EXACT [MONDORULE:1] synonym: "MCOP5" EXACT ABBREVIATION [DOID:0060837, MONDO:Lexical, OMIM:611040] synonym: "MFRP isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "microphthalmia, isolated 5" RELATED [MONDO:Lexical, OMIM:611040] -synonym: "microphthalmia, isolated type 5" EXACT [MONDORULE:1, OMIM:611040] -synonym: "microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen" RELATED [OMIM:611040] -synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT OMO:0003005 [] -synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome" EXACT [DOID:0060837] +synonym: "microphthalmia, isolated 5" RELATED [MONDO:Lexical] +synonym: "microphthalmia, isolated type 5" EXACT [MONDORULE:1] +synonym: "microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen" RELATED [] +synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT OMO:0003005 [DOID:0060837, Orphanet:251279] +synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome" EXACT [] synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT OMO:0003005 [] -synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome" EXACT [Orphanet:251279] -synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT OMO:0003005 [] -synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen" EXACT [DOID:0060837] +synonym: "Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome" EXACT [] +synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT OMO:0003005 [DOID:0060837] +synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen" EXACT [] xref: DOID:0060837 {source="MONDO:equivalentTo"} xref: GARD:17205 {source="MONDO:GARD"} xref: ICD10CM:Q15.8 {source="Orphanet:251279", source="DOID:0060837", source="Orphanet:251279/attributed", source="Orphanet:251279/ntbt"} @@ -287065,8 +287114,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012606 name: Mycobacterium tuberculosis, susceptibility to, 2 subset: predisposition -synonym: "MTBS2" RELATED ABBREVIATION [OMIM:611046] -synonym: "Mycobacterium tuberculosis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:611046] +synonym: "MTBS2" RELATED ABBREVIATION [] +synonym: "Mycobacterium tuberculosis, susceptibility to, type 2" EXACT [MONDORULE:1] xref: MEDGEN:369686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611046 {source="MONDO:equivalentTo"} xref: UMLS:C1970235 {source="MEDGEN:369686", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -287078,10 +287127,10 @@ id: MONDO:0012607 name: asthma-related traits, susceptibility to, 5 def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "ASRT5" RELATED ABBREVIATION [OMIM:611064] -synonym: "asthma susceptibility 5" EXACT [OMIM:611064, OMIM:genemap2] +synonym: "ASRT5" RELATED ABBREVIATION [] +synonym: "asthma susceptibility 5" EXACT [] synonym: "asthma-related traits, susceptibility to, 5" EXACT [OMIM:611064] -synonym: "asthma-related traits, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:611064] +synonym: "asthma-related traits, susceptibility to, type 5" EXACT [MONDORULE:1] synonym: "inherited susceptibility to asthma caused by mutation in IRAK3" EXACT [MONDO:design_pattern] synonym: "IRAK3 inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:370858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -287103,14 +287152,14 @@ subset: ordo_disorder {source="Orphanet:206580"} subset: orphanet_rare {source="Orphanet:206580"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive distal spinal muscular atrophy type 4" EXACT [Orphanet:206580] -synonym: "autosomal recessive lower motor neuron disease with childhood onset" EXACT [Orphanet:206580] -synonym: "distal spinal muscular atrophy type 4" EXACT [Orphanet:206580] -synonym: "DSMA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611067] +synonym: "autosomal recessive distal spinal muscular atrophy type 4" EXACT [DOID:0111213, Orphanet:206580] +synonym: "autosomal recessive lower motor neuron disease with childhood onset" EXACT [DOID:0111213, Orphanet:206580] +synonym: "distal spinal muscular atrophy type 4" EXACT [DOID:0111213, Orphanet:206580] +synonym: "DSMA4" EXACT ABBREVIATION [DOID:0111213] synonym: "dSMA4" EXACT [Orphanet:206580] -synonym: "neuronopathy, distal hereditary motor, autosomal recessive 4" EXACT [Orphanet:206580] -synonym: "spinal muscular atrophy, distal, autosomal recessive, 4" RELATED [MONDO:Lexical, OMIM:611067] -synonym: "spinal muscular atrophy, distal, autosomal recessive, type 4" EXACT [MONDORULE:1, OMIM:611067] +synonym: "neuronopathy, distal hereditary motor, autosomal recessive 4" EXACT [OMIM:611067] +synonym: "spinal muscular atrophy, distal, autosomal recessive, 4" RELATED [MONDO:Lexical] +synonym: "spinal muscular atrophy, distal, autosomal recessive, type 4" EXACT [MONDORULE:1] xref: DOID:0111213 {source="MONDO:equivalentTo"} xref: GARD:17101 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:206580", source="Orphanet:206580/attributed", source="Orphanet:206580/ntbt"} @@ -287129,14 +287178,14 @@ name: Alzheimer disease 12 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22." [DOID:0110045, PMID:16825432] subset: gard_rare {source="GARD:16516", source="MONDO:GARD"} subset: rare -synonym: "AD12" EXACT ABBREVIATION [DOID:0110045] -synonym: "Ad12" RELATED [OMIM:611073] +synonym: "AD12" EXACT ABBREVIATION [DOID:0110045, OMIM:611073] +synonym: "Ad12" RELATED [] synonym: "Alzheimer disease 12" EXACT [DOID:0110045, OMIM:611073] synonym: "Alzheimer disease familial 12" EXACT [DOID:0110045] -synonym: "Alzheimer disease type 12" EXACT [MONDORULE:2, OMIM:611073] -synonym: "Alzheimer disease, familial, 12" RELATED [OMIM:611073] -synonym: "Alzheimer's disease 12" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 12" EXACT [DOID:0110045, MONDORULE:2] +synonym: "Alzheimer disease type 12" EXACT [MONDORULE:2] +synonym: "Alzheimer disease, familial, 12" RELATED [] +synonym: "Alzheimer's disease 12" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110045, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 12" EXACT [MONDORULE:2] xref: DOID:0110045 {source="MONDO:equivalentTo"} xref: GARD:16516 {source="MONDO:GARD"} xref: ICD10CM:G30 {source="DOID:0110045"} @@ -287154,10 +287203,10 @@ name: inflammatory bowel disease 10 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ATG16L1 inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "IBD10" EXACT ABBREVIATION [DOID:0110885, MONDO:Lexical, OMIM:611081] -synonym: "inflammatory bowel disease (Crohn disease) 10" EXACT [DOID:0110885] -synonym: "inflammatory bowel disease 10" EXACT [MONDO:Lexical, OMIM:611081] +synonym: "inflammatory bowel disease (Crohn disease) 10" EXACT [DOID:0110885, OMIM:611081] +synonym: "inflammatory bowel disease 10" EXACT [DOID:0110885, MONDO:Lexical] synonym: "inflammatory bowel disease caused by mutation in ATG16L1" EXACT [MONDO:design_pattern] -synonym: "inflammatory bowel disease type 10" EXACT [DOID:0110885, MONDORULE:2, OMIM:611081] +synonym: "inflammatory bowel disease type 10" EXACT [MONDORULE:2] xref: DOID:0110885 {source="MONDO:equivalentTo"} xref: MEDGEN:370205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567021 {source="MONDO:equivalentTo"} @@ -287180,11 +287229,11 @@ subset: ordo_disorder {source="Orphanet:500533"} subset: orphanet_rare {source="Orphanet:500533"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PMSE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611087] -synonym: "PMSE syndrome" EXACT [OMIM:611087, Orphanet:500533] -synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy" EXACT [MONDO:Lexical, OMIM:611087] +synonym: "PMSE" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PMSE syndrome" EXACT [DOID:0070511, OMIM:611087, Orphanet:500533] +synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy" EXACT [DOID:0070511, MONDO:Lexical, OMIM:611087] synonym: "polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome" RELATED [GARD:0012913] -synonym: "polyhydramnios-megalencephaly-symptomatic epilepsy syndrome" RELATED [Orphanet:500533] +synonym: "polyhydramnios-megalencephaly-symptomatic epilepsy syndrome" RELATED [] synonym: "pretzel syndrome" RELATED [GARD:0012913] xref: DOID:0070511 {source="MONDO:equivalentTo"} xref: GARD:12913 {source="MONDO:GARD"} @@ -287205,12 +287254,12 @@ name: intellectual disability, autosomal recessive 12 subset: gard_rare {source="GARD:22540", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, autosomal recessive 12" EXACT [OMIM:611090, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 12" EXACT [MONDO:Lexical, OMIM:611090] -synonym: "intellectual disability, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:611090] -synonym: "mental retardation, autosomal recessive 12" RELATED DEPRECATED [MONDO:Lexical, OMIM:611090] -synonym: "mental retardation, autosomal recessive type 12" EXACT DEPRECATED [MONDORULE:2, OMIM:611090] -synonym: "MRT12" RELATED DEPRECATED [MONDO:Lexical, OMIM:611090] +synonym: "intellectual developmental disorder, autosomal recessive 12" EXACT [OMIM:611090] +synonym: "intellectual disability, autosomal recessive 12" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 12" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 12" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 12" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT12" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081180 {source="MONDO:equivalentTo"} xref: GARD:22540 {source="MONDO:GARD"} xref: MEDGEN:370850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -287229,11 +287278,11 @@ subset: gard_rare {source="GARD:22541", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal recessive 5" EXACT [MONDO:Lexical, OMIM:611091] -synonym: "intellectual disability, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:611091] -synonym: "mental retardation, autosomal recessive 5" RELATED DEPRECATED [MONDO:Lexical, OMIM:611091] -synonym: "mental retardation, autosomal recessive type 5" EXACT DEPRECATED [MONDORULE:1, OMIM:611091] -synonym: "MRT5" RELATED DEPRECATED [MONDO:Lexical, OMIM:611091] +synonym: "intellectual disability, autosomal recessive 5" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 5" EXACT [MONDORULE:1] +synonym: "mental retardation, autosomal recessive 5" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 5" EXACT DEPRECATED [MONDORULE:1] +synonym: "MRT5" RELATED DEPRECATED [MONDO:Lexical] synonym: "NSUN2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081181 {source="MONDO:equivalentTo"} xref: GARD:22541 {source="MONDO:GARD"} @@ -287255,12 +287304,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2" EXACT [MONDO:design_pattern] synonym: "GRIK2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, autosomal recessive 6" EXACT [OMIM:611092, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:611092] -synonym: "intellectual disability, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:611092] -synonym: "mental retardation, autosomal recessive 6" RELATED DEPRECATED [MONDO:Lexical, OMIM:611092] -synonym: "mental retardation, autosomal recessive type 6" EXACT DEPRECATED [MONDORULE:1, OMIM:611092] -synonym: "MRT6" RELATED DEPRECATED [MONDO:Lexical, OMIM:611092] +synonym: "intellectual developmental disorder, autosomal recessive 6" EXACT [OMIM:611092] +synonym: "intellectual disability, autosomal recessive 6" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 6" EXACT [MONDORULE:1] +synonym: "mental retardation, autosomal recessive 6" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 6" EXACT DEPRECATED [MONDORULE:1] +synonym: "MRT6" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081182 {source="MONDO:equivalentTo"} xref: GARD:22542 {source="MONDO:GARD"} xref: MEDGEN:370848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -287281,13 +287330,13 @@ subset: gard_rare {source="GARD:22543", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal recessive 22" RELATED [OMIM:611093] -synonym: "intellectual disability, autosomal recessive 7" EXACT [MONDO:Lexical, OMIM:611093] -synonym: "intellectual disability, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:611093] -synonym: "mental retardation, autosomal recessive 22" RELATED DEPRECATED [OMIM:611093] -synonym: "mental retardation, autosomal recessive 7" RELATED DEPRECATED [MONDO:Lexical, OMIM:611093] -synonym: "mental retardation, autosomal recessive type 7" EXACT DEPRECATED [MONDORULE:1, OMIM:611093] -synonym: "MRT7" RELATED DEPRECATED [MONDO:Lexical, OMIM:611093] +synonym: "intellectual disability, autosomal recessive 22" RELATED [] +synonym: "intellectual disability, autosomal recessive 7" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 7" EXACT [MONDORULE:1] +synonym: "mental retardation, autosomal recessive 22" RELATED DEPRECATED [] +synonym: "mental retardation, autosomal recessive 7" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 7" EXACT DEPRECATED [MONDORULE:1] +synonym: "MRT7" RELATED DEPRECATED [MONDO:Lexical] synonym: "TUSC3 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081183 {source="MONDO:equivalentTo"} xref: GARD:22543 {source="MONDO:GARD"} @@ -287315,11 +287364,11 @@ name: intellectual disability, autosomal recessive 9 subset: gard_rare {source="GARD:22544", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 26" RELATED [OMIM:611095] -synonym: "intellectual disability, autosomal recessive 9" EXACT [MONDO:Lexical, OMIM:611095] -synonym: "mental retardation, autosomal recessive 26" RELATED DEPRECATED [OMIM:611095] -synonym: "mental retardation, autosomal recessive 9" RELATED DEPRECATED [MONDO:Lexical, OMIM:611095] -synonym: "mental retardation, autosomal recessive, 9/26" EXACT [OMIM:611095, OMIM:genemap2] +synonym: "intellectual disability, autosomal recessive 26" RELATED [] +synonym: "intellectual disability, autosomal recessive 9" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 26" RELATED DEPRECATED [] +synonym: "mental retardation, autosomal recessive 9" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive, 9/26" EXACT [] synonym: "MRT9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611095] xref: DOID:0081184 {source="MONDO:equivalentTo"} xref: GARD:22544 {source="MONDO:GARD"} @@ -287337,11 +287386,11 @@ name: intellectual disability, autosomal recessive 10 subset: gard_rare {source="GARD:22545", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 10" EXACT [MONDO:Lexical, OMIM:611096] -synonym: "intellectual disability, autosomal recessive 20" RELATED [OMIM:611096] -synonym: "mental retardation, autosomal recessive 10" RELATED DEPRECATED [MONDO:Lexical, OMIM:611096] -synonym: "mental retardation, autosomal recessive 10/20" EXACT [OMIM:611096, OMIM:genemap2] -synonym: "mental retardation, autosomal recessive 20" RELATED DEPRECATED [OMIM:611096] +synonym: "intellectual disability, autosomal recessive 10" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive 20" RELATED [] +synonym: "mental retardation, autosomal recessive 10" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 10/20" EXACT [] +synonym: "mental retardation, autosomal recessive 20" RELATED DEPRECATED [] synonym: "MRT10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611096] xref: DOID:0081185 {source="MONDO:equivalentTo"} xref: GARD:22545 {source="MONDO:GARD"} @@ -287359,9 +287408,9 @@ name: intellectual disability, autosomal recessive 11 subset: gard_rare {source="GARD:22546", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 11" EXACT [MONDO:Lexical, OMIM:611097] -synonym: "mental retardation, autosomal recessive 11" RELATED DEPRECATED [MONDO:Lexical, OMIM:611097] -synonym: "mental retardation, autosomal recessive, 11" EXACT [OMIM:611097, OMIM:genemap2] +synonym: "intellectual disability, autosomal recessive 11" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 11" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive, 11" EXACT [] synonym: "MRT11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611097] xref: DOID:0081186 {source="MONDO:equivalentTo"} xref: GARD:22546 {source="MONDO:GARD"} @@ -287399,11 +287448,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:94064"} subset: orphanet_rare {source="Orphanet:94064"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 15Q15.3 deletion syndrome" RELATED [OMIM:611102] -synonym: "deafness and male infertility" EXACT [OMIM:611102, OMIM:genemap2] -synonym: "deafness, sensorineural, and Male infertility" RELATED [OMIM:611102] -synonym: "deafness-infertility syndrome" EXACT [MONDO:Lexical, OMIM:611102] -synonym: "dis" EXACT [MONDO:Lexical, OMIM:611102, Orphanet:94064] +synonym: "chromosome 15Q15.3 deletion syndrome" RELATED [] +synonym: "deafness and male infertility" EXACT [] +synonym: "deafness, sensorineural, and Male infertility" RELATED [] +synonym: "deafness-infertility syndrome" EXACT [icd11.foundation:1430704280, MONDO:Lexical, OMIM:611102, Orphanet:94064] +synonym: "DIS" EXACT ABBREVIATION [OMIM:611102, Orphanet:94064] +synonym: "dis" EXACT [MONDO:Lexical] synonym: "sensorineural deafness and male infertility" RELATED [GARD:0011911] xref: GARD:11911 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:94064/attributed", source="Orphanet:94064/ntbt", source="Orphanet:94064"} @@ -287435,10 +287485,10 @@ synonym: "leukoencephalopathy with brain stem and spinal cord involvement - high synonym: "leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation" RELATED [GARD:0012652] synonym: "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation" EXACT [NORD:1941] synonym: "leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation" RELATED [GARD:0012652] -synonym: "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" EXACT CLINGEN_LABEL [] +synonym: "leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" EXACT CLINGEN_LABEL [Orphanet:137898] synonym: "leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome" EXACT [Orphanet:137898] -synonym: "leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation" RELATED [MONDO:Lexical, OMIM:611105] -synonym: "mitochondrial aspartyl-tRNA synthetase deficiency" RELATED [OMIM:611105] +synonym: "leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation" RELATED [MONDO:Lexical] +synonym: "mitochondrial aspartyl-tRNA synthetase deficiency" RELATED [] xref: GARD:12652 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:137898/attributed", source="Orphanet:137898/ntbt", source="Orphanet:137898"} xref: MEDGEN:370845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -287458,9 +287508,9 @@ name: intellectual disability, autosomal recessive 4 subset: gard_rare {source="GARD:22547", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 4" EXACT [MONDO:Lexical, OMIM:611107] -synonym: "mental retardation, autosomal recessive 4" RELATED DEPRECATED [MONDO:Lexical, OMIM:611107] -synonym: "mental retardation, autosomal recessive, 4" EXACT [OMIM:611107, OMIM:genemap2] +synonym: "intellectual disability, autosomal recessive 4" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 4" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive, 4" EXACT [] synonym: "MRT4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611107] xref: DOID:0081187 {source="MONDO:equivalentTo"} xref: GARD:22547 {source="MONDO:GARD"} @@ -287482,10 +287532,10 @@ subset: ordo_disorder {source="Orphanet:99901"} subset: orphanet_rare {source="Orphanet:99901"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ACAD9 deficiency" EXACT [OMIM:611126, Orphanet:99901] -synonym: "acyl-CoA dehydrogenase 9 deficiency" EXACT CLINGEN_LABEL [OMIM:611126] -synonym: "mitochondrial complex I deficiency due to ACAD9 deficiency" EXACT [OMIM:611126] -synonym: "mitochondrial complex I deficiency, nuclear type 20" EXACT [OMIM:611126, OMIM:genemap2] +synonym: "ACAD9 deficiency" EXACT [DOID:0112072, OMIM:611126, Orphanet:99901] +synonym: "acyl-CoA dehydrogenase 9 deficiency" EXACT CLINGEN_LABEL [DOID:0112072, OMIM:611126, Orphanet:99901] +synonym: "mitochondrial complex I deficiency due to ACAD9 deficiency" EXACT [] +synonym: "mitochondrial complex I deficiency, nuclear type 20" EXACT [] xref: DOID:0112072 {source="MONDO:equivalentTo"} xref: GARD:12986 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:99901", source="Orphanet:99901/attributed", source="Orphanet:99901/ntbt"} @@ -287508,9 +287558,9 @@ subset: gard_rare {source="GARD:15508", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "NR2E3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 37" EXACT [MONDO:Lexical, OMIM:611131] +synonym: "retinitis pigmentosa 37" EXACT [DOID:0110399, MONDO:Lexical, OMIM:611131] synonym: "retinitis pigmentosa caused by mutation in NR2E3" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 37" EXACT [DOID:0110399, MONDORULE:2, OMIM:611131] +synonym: "retinitis pigmentosa type 37" EXACT [MONDORULE:2] synonym: "RP37" EXACT ABBREVIATION [DOID:0110399, MONDO:Lexical, OMIM:611131] xref: DOID:0110399 {source="MONDO:equivalentTo"} xref: GARD:15508 {source="MONDO:GARD"} @@ -287533,11 +287583,11 @@ subset: gard_rare {source="GARD:15509", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEP290 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Meckel syndrome 4" RELATED [DOID:0070118] +synonym: "Meckel syndrome 4" RELATED [] synonym: "Meckel syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 4" EXACT [MONDO:Lexical, OMIM:611134] synonym: "Meckel-Gruber syndrome, type 4" EXACT [DOID:0070118, OMIM:611134] -synonym: "Meckel-like Cerebrorenodigital syndrome" RELATED [OMIM:611134] +synonym: "Meckel-like Cerebrorenodigital syndrome" RELATED [] synonym: "MKS4" EXACT ABBREVIATION [DOID:0070118, MONDO:Lexical, OMIM:611134] xref: DOID:0070118 {source="MONDO:equivalentTo"} xref: GARD:15509 {source="MONDO:GARD"} @@ -287559,15 +287609,15 @@ id: MONDO:0012627 name: epilepsy, idiopathic generalized, susceptibility to, 13 def: "An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] subset: predisposition -synonym: "EIG13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611136] -synonym: "epilepsy, childhood absence, susceptibility to, 4" RELATED [OMIM:611136] +synonym: "EIG13" EXACT ABBREVIATION [DOID:0111314, MONDO:Lexical, OMIM:611136] +synonym: "epilepsy, childhood absence, susceptibility to, 4" RELATED [] synonym: "epilepsy, idiopathic generalized, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:611136] -synonym: "epilepsy, idiopathic generalized, susceptibility to, type 13" EXACT [MONDORULE:2, OMIM:611136] -synonym: "epilepsy, juvenile myoclonic, susceptibility to, 5" RELATED [OMIM:611136] +synonym: "epilepsy, idiopathic generalized, susceptibility to, type 13" EXACT [MONDORULE:2] +synonym: "epilepsy, juvenile myoclonic, susceptibility to, 5" RELATED [] synonym: "GABRA1 juvenile myoclonic epilepsy" RELATED [MONDO:patterns/disease_series_by_gene] synonym: "juvenile myoclonic epilepsy caused by mutation in GABRA1" RELATED [MONDO:design_pattern] synonym: "susceptibility to idiopathic generalised epilepsy 13" EXACT OMO:0003005 [] -synonym: "susceptibility to idiopathic generalized epilepsy 13" EXACT [OMIM:611136] +synonym: "susceptibility to idiopathic generalized epilepsy 13" EXACT [] xref: DOID:0111314 {source="MONDO:equivalentTo"} xref: MEDGEN:861910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567002 {source="MONDO:equivalentTo"} @@ -287604,10 +287654,10 @@ def: "A dystonia characterized by autosomal dominant inheritance of attacks of d subset: gard_rare {source="GARD:15510", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "dystonia 20" RELATED [OMIM:611147] -synonym: "paroxysmal nonkinesigenic dyskinesia 2" EXACT [MONDO:Lexical, OMIM:611147] -synonym: "paroxysmal nonkinesigenic dyskinesia type 2" EXACT [DOID:0090047, MONDORULE:1] -synonym: "PNKD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611147] +synonym: "dystonia 20" RELATED [] +synonym: "paroxysmal nonkinesigenic dyskinesia 2" EXACT [DOID:0090047, MONDO:Lexical, OMIM:611147] +synonym: "paroxysmal nonkinesigenic dyskinesia type 2" EXACT [MONDORULE:1] +synonym: "PNKD2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0090047 {source="MONDO:equivalentTo"} xref: GARD:15510 {source="MONDO:GARD"} xref: ICD10CM:G24.8 {source="DOID:0090047"} @@ -287629,9 +287679,9 @@ subset: gard_rare {source="GARD:16517", source="MONDO:GARD"} subset: rare synonym: "AD13" EXACT ABBREVIATION [DOID:0110046, MONDO:Lexical, OMIM:611152] synonym: "Alzheimer disease 13" EXACT [DOID:0110046, MONDO:Lexical, OMIM:611152] -synonym: "Alzheimer disease-13" EXACT [OMIM:611152, OMIM:genemap2] -synonym: "Alzheimer's disease 13" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 13" EXACT [DOID:0110046, MONDORULE:2] +synonym: "Alzheimer disease-13" EXACT [] +synonym: "Alzheimer's disease 13" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110046, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 13" EXACT [MONDORULE:2] xref: DOID:0110046 {source="MONDO:equivalentTo"} xref: GARD:16517 {source="MONDO:GARD"} xref: ICD10CM:G30 {source="DOID:0110046"} @@ -287652,9 +287702,9 @@ subset: gard_rare {source="GARD:16518", source="MONDO:GARD"} subset: rare synonym: "AD14" EXACT ABBREVIATION [DOID:0110047, MONDO:Lexical, OMIM:611154] synonym: "Alzheimer disease 14" EXACT [DOID:0110047, MONDO:Lexical, OMIM:611154] -synonym: "Alzheimer disease-14" EXACT [OMIM:611154, OMIM:genemap2] -synonym: "Alzheimer's disease 14" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 14" EXACT [DOID:0110047, MONDORULE:2] +synonym: "Alzheimer disease-14" EXACT [] +synonym: "Alzheimer's disease 14" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110047, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 14" EXACT [MONDORULE:2] xref: DOID:0110047 {source="MONDO:equivalentTo"} xref: GARD:16518 {source="MONDO:GARD"} xref: ICD10CM:G30 {source="DOID:0110047"} @@ -287690,11 +287740,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:314555"} subset: orphanet_rare {source="Orphanet:314555"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HAMAMY syndrome" RELATED [MONDO:Lexical, OMIM:611174] -synonym: "Hamamy syndrome" EXACT [Orphanet:314555] -synonym: "HMMS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611174] -synonym: "hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility" RELATED [OMIM:611174] -synonym: "hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility" RELATED DEPRECATED [OMIM:611174] +synonym: "HAMAMY syndrome" RELATED [MONDO:Lexical] +synonym: "Hamamy syndrome" EXACT [OMIM:611174, Orphanet:314555] +synonym: "HMMS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility" RELATED [] +synonym: "hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility" RELATED DEPRECATED [] xref: GARD:17422 {source="MONDO:GARD"} xref: MEDGEN:370148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566988 {source="MONDO:equivalentTo"} @@ -287714,17 +287764,17 @@ subset: ordo_disorder {source="Orphanet:95428"} subset: orphanet_rare {source="Orphanet:95428"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carbohydrate deficient glycoprotein syndrome type IIh" EXACT [Orphanet:95428] -synonym: "CDG IIh" RELATED [OMIM:611182] +synonym: "carbohydrate deficient glycoprotein syndrome type IIh" EXACT [DOID:0070260, Orphanet:95428] +synonym: "CDG IIh" RELATED [] synonym: "CDG syndrome type IIh" EXACT [Orphanet:95428] synonym: "CDG-IIh" EXACT [Orphanet:95428] -synonym: "CDG2H" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611182, Orphanet:95428] -synonym: "COG8-CDG" EXACT ABBREVIATION [Orphanet:95428] +synonym: "CDG2H" EXACT ABBREVIATION [DOID:0070260, MONDO:Lexical, OMIM:611182, Orphanet:95428] +synonym: "COG8-CDG" EXACT ABBREVIATION [DOID:0070260, Orphanet:95428] synonym: "COG8-CDG (CDG-IIh)" RELATED [GARD:0012411] synonym: "COG8-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] -synonym: "congenital disorder of glycosylation type 2h" EXACT [Orphanet:95428] -synonym: "congenital disorder of glycosylation type IIh" EXACT [Orphanet:95428] -synonym: "congenital disorder of glycosylation, type IIh" RELATED [MONDO:Lexical, OMIM:611182] +synonym: "congenital disorder of glycosylation type 2h" EXACT [DOID:0070260, Orphanet:95428] +synonym: "congenital disorder of glycosylation type IIh" EXACT [DOID:0070260, Orphanet:95428] +synonym: "congenital disorder of glycosylation, type IIh" RELATED [MONDO:Lexical] xref: DOID:0070260 {source="MONDO:equivalentTo"} xref: GARD:12411 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:95428/attributed", source="Orphanet:95428/ntbt", source="Orphanet:95428"} @@ -287744,8 +287794,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012636 name: restless legs syndrome, susceptibility to, 6 subset: predisposition -synonym: "periodic limb movements in sleep" RELATED [GARD:0010273, OMIM:611185] -synonym: "restless legs syndrome 6" EXACT [OMIM:611185, OMIM:genemap2] +synonym: "periodic limb movements in sleep" RELATED [GARD:0010273] +synonym: "restless legs syndrome 6" EXACT [] synonym: "restless legs syndrome, susceptibility to, 6" EXACT [OMIM:611185] synonym: "RLS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611185] xref: MEDGEN:370810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -287767,19 +287817,19 @@ subset: ordo_disorder {source="Orphanet:263508"} subset: orphanet_rare {source="Orphanet:263508"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carbohydrate deficient glycoprotein syndrome type IIg" EXACT [Orphanet:263508] +synonym: "carbohydrate deficient glycoprotein syndrome type IIg" EXACT [DOID:0070259, Orphanet:263508] synonym: "CDG 2G" RELATED [GARD:0010226] -synonym: "CDG IIg" RELATED [OMIM:611209] +synonym: "CDG IIg" RELATED [] synonym: "CDG syndrome type IIg" EXACT [Orphanet:263508] synonym: "CDG-IIg" EXACT [Orphanet:263508] -synonym: "CDG2G" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611209, Orphanet:263508] -synonym: "Cdgii/Cog1 Cerebrocostomandibular-like syndrome" RELATED [OMIM:611209] +synonym: "CDG2G" EXACT ABBREVIATION [DOID:0070259, MONDO:Lexical, OMIM:611209, Orphanet:263508] +synonym: "Cdgii/Cog1 Cerebrocostomandibular-like syndrome" RELATED [] synonym: "COG1-CDG" EXACT ABBREVIATION [Orphanet:263508] synonym: "COG1-CDG (CDG-IIg)" RELATED [GARD:0010226] synonym: "COG1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] synonym: "congenital disorder of glycosylation type 2g" EXACT [Orphanet:263508] -synonym: "congenital disorder of glycosylation type IIg" EXACT [Orphanet:263508] -synonym: "congenital disorder of glycosylation, type IIg" RELATED [MONDO:Lexical, OMIM:611209] +synonym: "congenital disorder of glycosylation type IIg" EXACT [DOID:0070259, Orphanet:263508] +synonym: "congenital disorder of glycosylation, type IIg" RELATED [MONDO:Lexical] xref: DOID:0070259 {source="MONDO:equivalentTo"} xref: GARD:10226 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:263508", source="Orphanet:263508/attributed", source="Orphanet:263508/ntbt"} @@ -287809,10 +287859,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:77299"} subset: orphanet_rare {source="Orphanet:77299"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MCOPS10" EXACT ABBREVIATION [GARD:0009292, MONDO:Lexical, OMIM:611222, Orphanet:77299] -synonym: "microphthalmia and brain atrophy" RELATED [GARD:0009292, OMIM:611222] +synonym: "MCOPS10" EXACT ABBREVIATION [DOID:0111812, GARD:0009292, MONDO:Lexical, OMIM:611222, Orphanet:77299] +synonym: "microphthalmia and brain atrophy" RELATED [GARD:0009292] synonym: "microphthalmia syndromic 10" RELATED [GARD:0009292] -synonym: "microphthalmia, syndromic 10" RELATED [MONDO:Lexical, OMIM:611222] +synonym: "microphthalmia, syndromic 10" RELATED [MONDO:Lexical] synonym: "MOBA" RELATED ABBREVIATION [GARD:0009292] synonym: "MOBA syndrome" EXACT [Orphanet:77299] synonym: "syndromic microphthalmia type 10" EXACT [Orphanet:77299] @@ -287845,13 +287895,13 @@ synonym: "autosomal recessive complex spastic paraplegia caused by mutation in E synonym: "autosomal recessive spastic paraplegia 18" EXACT [DOID:0110771] synonym: "autosomal recessive spastic paraplegia type 18" EXACT [DOID:0110771] synonym: "ERLIN2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia type 18" EXACT [DOID:0110771, MONDORULE:2] -synonym: "IDMDC" RELATED EXCLUDE [DOID:0110771] +synonym: "hereditary spastic paraplegia type 18" EXACT [MONDORULE:2] +synonym: "IDMDC" RELATED EXCLUDE [] synonym: "intellectual disability, motor dysfunction and joint contractures" EXACT [DOID:0110771] -synonym: "intellectual disability, motor dysfunction, and Joint contractures" RELATED [OMIM:611225] +synonym: "intellectual disability, motor dysfunction, and Joint contractures" RELATED [] synonym: "spastic paraplegia 18" RELATED [GARD:0004922] -synonym: "spastic paraplegia 18, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611225] -synonym: "SPG18" EXACT ABBREVIATION [DOID:0110771, MONDO:Lexical, OMIM:611225, Orphanet:209951] +synonym: "spastic paraplegia 18, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "SPG18" EXACT ABBREVIATION [DOID:0110771, MONDO:Lexical, Orphanet:209951] xref: DOID:0110771 {source="MONDO:equivalentTo"} xref: GARD:4922 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="Orphanet:209951/attributed", source="Orphanet:209951/ntbt", source="DOID:0110771", source="Orphanet:209951"} @@ -287878,9 +287928,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4J" EXACT [DOID:0110184] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4J" RELATED [OMIM:611228] -synonym: "Charcot-Marie-Tooth disease, type 4J" RELATED [GARD:0012443, MONDO:Lexical, OMIM:611228] -synonym: "CMT4J" EXACT ABBREVIATION [DOID:0110184, MONDO:Lexical, OMIM:611228, Orphanet:139515] +synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4J" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 4J" RELATED [GARD:0012443, MONDO:Lexical] +synonym: "CMT4J" EXACT ABBREVIATION [DOID:0110184, MONDO:Lexical, NCIT:C134954, OMIM:611228, Orphanet:139515] synonym: "FIG4 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110184 {source="MONDO:equivalentTo"} xref: GARD:12443 {source="MONDO:GARD"} @@ -287904,7 +287954,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/12443/charco id: MONDO:0012641 name: restless legs syndrome, susceptibility to, 5 subset: predisposition -synonym: "restless legs syndrome 5" EXACT [OMIM:611242, OMIM:genemap2] +synonym: "restless legs syndrome 5" EXACT [] synonym: "restless legs syndrome, susceptibility to, 5" EXACT [OMIM:611242] synonym: "RLS 5" RELATED [GARD:0010272] synonym: "RLS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611242] @@ -287920,9 +287970,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012642 name: major affective disorder 4 -synonym: "bipolar affective disorder" RELATED [OMIM:611247] +synonym: "bipolar affective disorder" RELATED [] synonym: "MAFD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611247] -synonym: "MAJOR affective disorder 4" RELATED [OMIM:611247] +synonym: "MAJOR affective disorder 4" RELATED [] synonym: "major affective disorder 4" EXACT [OMIM:611247] xref: MEDGEN:372671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567073 {source="MONDO:equivalentTo"} @@ -287942,10 +287992,10 @@ subset: orphanet_rare {source="Orphanet:171622"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 32" EXACT [DOID:0110783] -synonym: "autosomal recessive spastic paraplegia type 32" EXACT [DOID:0110783] -synonym: "hereditary spastic paraplegia type 32" EXACT [DOID:0110783, MONDORULE:2] +synonym: "autosomal recessive spastic paraplegia type 32" EXACT [DOID:0110783, Orphanet:171622] +synonym: "hereditary spastic paraplegia type 32" EXACT [MONDORULE:2] synonym: "spastic paraplegia 32" RELATED [GARD:0012749] -synonym: "spastic paraplegia 32, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611252] +synonym: "spastic paraplegia 32, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG32" EXACT ABBREVIATION [DOID:0110783, MONDO:Lexical, OMIM:611252, Orphanet:171622] xref: DOID:0110783 {source="MONDO:equivalentTo"} xref: GARD:12749 {source="MONDO:GARD"} @@ -287967,8 +288017,8 @@ def: "Any Jeune syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:15511", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "asphyxiating thoracic dystrophy 2" EXACT [OMIM:611263] -synonym: "asphyxiating thoracic dystrophy type 2" EXACT [DOID:0110086, MONDORULE:1] +synonym: "asphyxiating thoracic dystrophy 2" EXACT [DOID:0110086, OMIM:611263] +synonym: "asphyxiating thoracic dystrophy type 2" EXACT [MONDORULE:1] synonym: "ATD2" EXACT ABBREVIATION [DOID:0110086] synonym: "IFT80 Jeune syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Jeune syndrome caused by mutation in IFT80" EXACT [MONDO:design_pattern] @@ -288006,8 +288056,8 @@ is_a: MONDO:0020367 {source="Orphanet:98977/btnt"} ! juvenile open angle glaucom [Term] id: MONDO:0012646 name: obsolete glaucoma 1, open angle, H -synonym: "glaucoma 1, open angle, H" EXACT [MONDO:Lexical, OMIM:611276] -synonym: "GLC1H" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611276] +synonym: "glaucoma 1, open angle, H" EXACT [MONDO:Lexical] +synonym: "GLC1H" EXACT ABBREVIATION [MONDO:Lexical] xref: MESH:C566976 {source="MONDO:obsoleteEquivalent"} xref: OMIM:611276 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGeneticCarrier"} @@ -288031,12 +288081,12 @@ subset: ordo_disorder {source="Orphanet:79159"} subset: orphanet_rare {source="Orphanet:79159"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Acad8 deficiency" RELATED [OMIM:611283] -synonym: "acyl-Coa dehydrogenase family, member 8, deficiency of" RELATED [OMIM:611283] +synonym: "Acad8 deficiency" RELATED [] +synonym: "acyl-Coa dehydrogenase family, member 8, deficiency of" RELATED [] synonym: "acyl-CoaA dehydrogenase family, member 8, deficiency of" RELATED [GARD:0010223] -synonym: "IBD deficiency" RELATED [OMIM:611283] +synonym: "IBD deficiency" RELATED [] synonym: "isobutyric aciduria" EXACT [Orphanet:79159] -synonym: "isobutyryl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [OMIM:611283] +synonym: "isobutyryl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [NCIT:C129975, OMIM:611283, Orphanet:79159] xref: GARD:10223 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:79159/attributed", source="Orphanet:79159/ntbt", source="Orphanet:79159"} xref: MEDGEN:370754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -288074,19 +288124,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cernunnos deficiency" EXACT [Orphanet:169079] synonym: "Cernunnos XLFD" EXACT [Orphanet:169079] -synonym: "Cernunnos-XLF deficiency" EXACT CLINGEN_LABEL [] +synonym: "Cernunnos-XLF deficiency" EXACT CLINGEN_LABEL [Orphanet:169079] synonym: "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome" EXACT OMO:0003005 [] synonym: "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome" EXACT [Orphanet:169079] synonym: "NHEJ1 deficiency" EXACT [Orphanet:169079] -synonym: "Nhej1 syndrome" RELATED [OMIM:611291] +synonym: "Nhej1 syndrome" RELATED [] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency" RELATED OMO:0003005 [] -synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291] +synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation" RELATED OMO:0003005 [] -synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291] +synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation" RELATED [] synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation" RELATED OMO:0003005 [] -synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" RELATED [OMIM:611291] +synonym: "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" RELATED [] synonym: "severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency" RELATED OMO:0003005 [] -synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [OMIM:611291] +synonym: "severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency" RELATED [] xref: GARD:17045 {source="MONDO:GARD"} xref: ICD10CM:D81.1 {source="Orphanet:169079", source="Orphanet:169079/attributed", source="Orphanet:169079/ntbt"} xref: MEDGEN:369590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -288111,13 +288161,13 @@ subset: ordo_disorder {source="Orphanet:397946"} subset: orphanet_rare {source="Orphanet:397946"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive spastic ataxia type 2" EXACT [Orphanet:397946] -synonym: "autosomal recessive spastic paraplegia type 58" RELATED [Orphanet:397946] +synonym: "autosomal recessive spastic ataxia type 2" EXACT [] +synonym: "autosomal recessive spastic paraplegia type 58" RELATED [] synonym: "KIF1C spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spastic ataxia 2" EXACT CLINGEN_LABEL [] -synonym: "spastic ataxia 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611302] +synonym: "spastic ataxia 2" EXACT CLINGEN_LABEL [DOID:0050941] +synonym: "spastic ataxia 2, autosomal recessive" RELATED [MONDO:Lexical] synonym: "spastic ataxia caused by mutation in KIF1C" EXACT [MONDO:design_pattern] -synonym: "spastic ataxia type 2" EXACT [DOID:0050941, MONDORULE:1] +synonym: "spastic ataxia type 2" EXACT [MONDORULE:1] synonym: "SPAX2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611302, Orphanet:397946] synonym: "SPG58" EXACT ABBREVIATION [Orphanet:397946] xref: DOID:0050941 {source="MONDO:equivalentTo"} @@ -288147,9 +288197,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ANO5 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5" EXACT [MONDO:design_pattern] -synonym: "LGMD2L" EXACT ABBREVIATION [DOID:0110284, MONDO:Lexical, OMIM:611307, Orphanet:206549] +synonym: "LGMD2L" EXACT ABBREVIATION [DOID:0110284, MONDO:Lexical, Orphanet:206549] synonym: "limb-girdle muscular dystrophy type 2L" RELATED [GARD:0012536] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 12" EXACT [OMIM:611307, OMIM:genemap2] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 12" EXACT [OMIM:611307] synonym: "muscular dystrophy, limb-girdle, type 2L" EXACT [DOID:0110284, MONDO:Lexical, OMIM:611307] xref: DOID:0110284 {source="MONDO:equivalentTo"} xref: GARD:12536 {source="MONDO:GARD"} @@ -288189,9 +288239,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ASD4" EXACT ABBREVIATION [DOID:0110109, MONDO:Lexical, OMIM:611363] synonym: "atrial heart septal defect caused by mutation in TBX20" EXACT [MONDO:design_pattern] -synonym: "atrial heart septal defect type 4" EXACT [DOID:0110109, MONDORULE:1] +synonym: "atrial heart septal defect type 4" EXACT [MONDORULE:1] synonym: "atrial septal defect 4" EXACT [DOID:0110109, MONDO:Lexical, OMIM:611363] -synonym: "atrial septal defect type 4" EXACT [MONDORULE:1, OMIM:611363] +synonym: "atrial septal defect type 4" EXACT [MONDORULE:1] synonym: "TBX20 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110109 {source="MONDO:equivalentTo"} xref: GARD:15512 {source="MONDO:GARD"} @@ -288210,8 +288260,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012655 name: myoclonic epilepsy, juvenile, susceptibility to, 4 subset: predisposition -synonym: "EJM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611364] -synonym: "myoclonic epilepsy, juvenile, 4" EXACT [OMIM:611364, OMIM:genemap2] +synonym: "EJM4" EXACT ABBREVIATION [DOID:0111327, MONDO:Lexical, OMIM:611364] +synonym: "myoclonic epilepsy, juvenile, 4" EXACT [] synonym: "myoclonic epilepsy, juvenile, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:611364] xref: DOID:0111327 {source="MONDO:equivalentTo"} xref: MEDGEN:370067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -288236,11 +288286,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Israeli Bedouin type B multiple contracture syndrome" EXACT [DOID:0060653] synonym: "LCCS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611369, Orphanet:137783] -synonym: "lethal congenital contractural syndrome 3" EXACT [OMIM:611369, OMIM:genemap2] -synonym: "lethal congenital contracture syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:611369] +synonym: "lethal congenital contractural syndrome 3" EXACT [] +synonym: "lethal congenital contracture syndrome 3" EXACT CLINGEN_LABEL [DOID:0060653, MONDO:Lexical, OMIM:611369] synonym: "lethal congenital contracture syndrome caused by mutation in PIP5K1C" EXACT [MONDO:design_pattern] -synonym: "lethal congenital contracture syndrome type 3" EXACT [DOID:0060653, MONDORULE:1, OMIM:611369] -synonym: "multiple contracture syndrome, Israeli Bedouin type B" RELATED [OMIM:611369] +synonym: "lethal congenital contracture syndrome type 3" EXACT [MONDORULE:1, Orphanet:137783] +synonym: "multiple contracture syndrome, Israeli Bedouin type B" RELATED [] synonym: "PIP5K1C lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060653 {source="MONDO:equivalentTo"} xref: GARD:12644 {source="MONDO:GARD"} @@ -288269,11 +288319,11 @@ synonym: "MGS" EXACT ABBREVIATION [OMIM:611376] synonym: "MUNGAN syndrome" EXACT [MONDO:Lexical, OMIM:611376] synonym: "pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities" RELATED [GARD:0010687] synonym: "pseudoobstruction chronic idiopathic intestinal with Barrett oesophagus and cardiac abnormalities" RELATED OMO:0003005 [] -synonym: "pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities" RELATED [OMIM:611376] +synonym: "pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities" RELATED [] synonym: "pseudoobstruction, chronic idiopathic intestinal, with Barrett oesophagus and Cardiac abnormalities" RELATED OMO:0003005 [] synonym: "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities" RELATED [GARD:0010687] synonym: "visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett oesophagus and cardiac abnormalities" RELATED OMO:0003005 [] -synonym: "visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities" RELATED [OMIM:611376] +synonym: "visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities" RELATED [] xref: MEDGEN:369554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C548078 {source="MONDO:equivalentTo"} xref: OMIM:611376 {source="MONDO:equivalentTo"} @@ -288291,7 +288341,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:140908"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDB2" EXACT ABBREVIATION [DOID:0110975, MONDO:Lexical, OMIM:611377] -synonym: "brachydactyly, type B2" RELATED [MONDO:Lexical, OMIM:611377] +synonym: "brachydactyly, type B2" RELATED [MONDO:Lexical] xref: DOID:0110975 {source="MONDO:equivalentTo"} xref: GARD:16963 {source="MONDO:GARD"} xref: ICD10CM:Q73.8 {source="DOID:0110975", source="Orphanet:140908", source="Orphanet:140908/attributed", source="Orphanet:140908/ntbt"} @@ -288318,12 +288368,12 @@ def: "Any age-related macular degeneration in which the cause of the disease is subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "age related macular degeneration type 9" EXACT [DOID:0110021, MONDORULE:1] +synonym: "age related macular degeneration type 9" EXACT [MONDORULE:1] synonym: "age-related macular degeneration caused by mutation in C3" EXACT [MONDO:design_pattern] synonym: "ARMD9" EXACT ABBREVIATION [DOID:0110021, MONDO:Lexical, OMIM:611378] synonym: "C3 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "macular degeneration, age-related, 9" RELATED [MONDO:Lexical, OMIM:611378] -synonym: "macular Degeneration, age-related, type 9" EXACT [MONDORULE:1, OMIM:611378] +synonym: "macular degeneration, age-related, 9" RELATED [MONDO:Lexical] +synonym: "macular Degeneration, age-related, type 9" EXACT [MONDORULE:1] xref: DOID:0110021 {source="MONDO:equivalentTo"} xref: MEDGEN:370717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566958 {source="MONDO:equivalentTo"} @@ -288339,9 +288389,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012660 name: susceptibility to visceral leishmaniasis, 2 subset: predisposition -synonym: "kala-AZAR, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:611381] -synonym: "KAZA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611381] -synonym: "leishmaniasis, visceral, susceptibility to, 2" RELATED [OMIM:611381] +synonym: "kala-AZAR, susceptibility to, 2" RELATED [MONDO:Lexical] +synonym: "KAZA2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "leishmaniasis, visceral, susceptibility to, 2" RELATED [] xref: MEDGEN:409879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611381 {source="MONDO:equivalentTo"} xref: UMLS:C1969649 {source="MEDGEN:409879", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -288353,9 +288403,9 @@ relationship: predisposes_towards MONDO:0005445 {source="OMIM:611381"} ! viscera id: MONDO:0012661 name: susceptibility to visceral leishmaniasis, 3 subset: predisposition -synonym: "kala-AZAR, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:611382] -synonym: "KAZA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611382] -synonym: "leishmaniasis, visceral, susceptibility to, 3" RELATED [OMIM:611382] +synonym: "kala-AZAR, susceptibility to, 3" RELATED [MONDO:Lexical] +synonym: "KAZA3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "leishmaniasis, visceral, susceptibility to, 3" RELATED [] xref: MEDGEN:370066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611382 {source="MONDO:equivalentTo"} xref: UMLS:C1969648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370066"} @@ -288374,10 +288424,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "USH2D" EXACT ABBREVIATION [DOID:0110840, MONDO:Lexical, OMIM:611383] synonym: "Usher syndrome caused by mutation in WHRN" EXACT [MONDO:design_pattern] -synonym: "Usher syndrome type 2D" EXACT CLINGEN_LABEL [] +synonym: "Usher syndrome type 2D" EXACT CLINGEN_LABEL [DOID:0110840] synonym: "Usher syndrome type IID" EXACT [DOID:0110840] -synonym: "Usher syndrome, type 2D" RELATED [OMIM:611383] -synonym: "USHER syndrome, type IID" RELATED [MONDO:Lexical, OMIM:611383] +synonym: "Usher syndrome, type 2D" RELATED [] +synonym: "USHER syndrome, type IID" RELATED [MONDO:Lexical] synonym: "WHRN Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110840 {source="MONDO:equivalentTo"} xref: GARD:15514 {source="MONDO:GARD"} @@ -288398,11 +288448,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012663 name: obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 -synonym: "malaria fever episodes quantitative trait locus 1" RELATED [OMIM:611384] -synonym: "Pffe1" RELATED [OMIM:611384] -synonym: "plasmodium falciparum fever episodes QTL1" EXACT [OMIM:611384, OMIM:genemap2] -synonym: "Plasmodium falciparum fever episodes quantitative trait locus 1" EXACT [OMIM:611384] -synonym: "Plasmodium falciparum fever episodes quantitative trait locus type 1" EXACT [MONDORULE:1, OMIM:611384] +synonym: "malaria fever episodes quantitative trait locus 1" RELATED [] +synonym: "Pffe1" RELATED [] +synonym: "plasmodium falciparum fever episodes QTL1" EXACT [] +synonym: "Plasmodium falciparum fever episodes quantitative trait locus 1" EXACT [] +synonym: "Plasmodium falciparum fever episodes quantitative trait locus type 1" EXACT [MONDORULE:1] xref: OMIM:611384 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeTrait"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3811" xsd:anyURI @@ -288422,10 +288472,10 @@ subset: rare synonym: "ARSAL" EXACT ABBREVIATION [Orphanet:314603] synonym: "autosomal recessive spastic ataxia caused by mutation in MARS2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic ataxia type 3" EXACT [Orphanet:314603] -synonym: "autosomal recessive spastic ataxia with leukoencephalopathy" RELATED [OMIM:611390] +synonym: "autosomal recessive spastic ataxia with leukoencephalopathy" RELATED [] synonym: "MARS2 autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spastic ataxia 3, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611390] -synonym: "spastic ataxia type 3" EXACT [DOID:0050942, MONDORULE:1] +synonym: "spastic ataxia 3, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "spastic ataxia type 3" EXACT [MONDORULE:1] synonym: "SPAX3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611390, Orphanet:314603] xref: DOID:0050942 {source="MONDO:equivalentTo"} xref: GARD:17425 {source="MONDO:GARD"} @@ -288451,10 +288501,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BFSP1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cataract 33" EXACT [MONDO:Lexical, OMIM:611391] -synonym: "cataract 33, cortical" RELATED [OMIM:611391] -synonym: "cataract 33, multiple types" RELATED [OMIM:611391] -synonym: "cataract type 33" EXACT [DOID:0110264, MONDORULE:2, OMIM:611391] +synonym: "cataract 33" EXACT [DOID:0110264, MONDO:Lexical] +synonym: "cataract 33, cortical" RELATED [] +synonym: "cataract 33, multiple types" RELATED [] +synonym: "cataract type 33" EXACT [MONDORULE:2] synonym: "cortical cataract 33" NARROW [DOID:0110264] synonym: "CTRCT33" EXACT ABBREVIATION [DOID:0110264, MONDO:Lexical, OMIM:611391] synonym: "early-onset non-syndromic cataract caused by mutation in BFSP1" EXACT [MONDO:design_pattern] @@ -288477,9 +288527,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012666 name: asthma-related traits, susceptibility to, 6 subset: predisposition -synonym: "ASRT6" RELATED ABBREVIATION [OMIM:611403] +synonym: "ASRT6" RELATED ABBREVIATION [] synonym: "asthma-related traits, susceptibility to, 6" EXACT [OMIM:611403] -synonym: "asthma-related traits, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:611403] +synonym: "asthma-related traits, susceptibility to, type 6" EXACT [MONDORULE:1] xref: MEDGEN:409877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611403 {source="MONDO:equivalentTo"} xref: UMLS:C1969640 {source="MEDGEN:409877", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -288492,10 +288542,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15515", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1W" RELATED [MONDO:Lexical, OMIM:611407] -synonym: "cardiomyopathy, dilated, type 1W" EXACT [MONDORULE:4, OMIM:611407] +synonym: "cardiomyopathy, dilated, 1W" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1W" EXACT [MONDORULE:4] synonym: "CMD1W" EXACT ABBREVIATION [DOID:0110446, MONDO:Lexical, OMIM:611407] -synonym: "dilated cardiomyopathy type 1W" EXACT [DOID:0110446, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1W" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in VCL" EXACT [MONDO:design_pattern] synonym: "VCL familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110446 {source="MONDO:equivalentTo"} @@ -288529,11 +288579,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:137605"} subset: orphanet_rare {source="Orphanet:137605"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Legius syndrome" EXACT CLINGEN_LABEL [OMIM:611431] -synonym: "neurofibromatosis 1-like syndrome" EXACT [Orphanet:137605] +synonym: "Legius syndrome" EXACT CLINGEN_LABEL [DOID:0070484, icd11.foundation:1025118245, NCIT:C176941, OMIM:611431, Orphanet:137605] +synonym: "neurofibromatosis 1-like syndrome" EXACT [icd11.foundation:1025118245, Orphanet:137605] synonym: "neurofibromatosis type 1 like syndrome" RELATED [GARD:0010714] -synonym: "neurofibromatosis type 1-like syndrome" RELATED [OMIM:611431] -synonym: "NF1-like syndrome" EXACT [Orphanet:137605] +synonym: "neurofibromatosis type 1-like syndrome" RELATED [] +synonym: "NF1-like syndrome" EXACT [DOID:0070484, icd11.foundation:1025118245, Orphanet:137605] xref: DOID:0070484 {source="MONDO:equivalentTo"} xref: GARD:10714 {source="MONDO:GARD"} xref: ICD10CM:Q85.0 {source="Orphanet:137605", source="Orphanet:137605/attributed", source="Orphanet:137605/ntbt"} @@ -288562,14 +288612,14 @@ subset: gard_rare {source="GARD:22627", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive deafness 63" NARROW [DOID:0110515] -synonym: "autosomal recessive nonsyndromic deafness 63" NARROW [OMIM:611451] +synonym: "autosomal recessive deafness 63" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 63" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 63" NARROW [DOID:0110515, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 63" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 63" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 63" NARROW [MONDO:Lexical, OMIM:611451, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 63" NARROW [MONDORULE:2, OMIM:611451] -synonym: "DFNB63" NARROW ABBREVIATION [DOID:0110515, MONDO:Lexical, OMIM:611451] +synonym: "deafness, autosomal recessive 63" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 63" NARROW [MONDORULE:2] +synonym: "DFNB63" NARROW ABBREVIATION [MONDO:Lexical] synonym: "LRTOMT autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110515 {source="MONDO:equivalentTo"} xref: GARD:22627 {source="MONDO:GARD"} @@ -288589,8 +288639,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012671 name: tremor, hereditary essential, 3 -synonym: "essential tremor, hereditary, 3" EXACT [OMIM:611456, OMIM:genemap2] -synonym: "ETM3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611456] +synonym: "essential tremor, hereditary, 3" EXACT [] +synonym: "ETM3" EXACT ABBREVIATION [DOID:0111430, MONDO:Lexical, OMIM:611456] synonym: "tremor, hereditary essential, 3" EXACT [MONDO:Lexical, OMIM:611456] xref: DOID:0111430 {source="MONDO:equivalentTo"} xref: MEDGEN:409870 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -288607,10 +288657,10 @@ id: MONDO:0012672 name: cholelithiasis def: "The presence of calculi in the gallbladder." [NCIT:C122822] subset: otar {source="MONDO:OTAR"} -synonym: "gallbladder disease 4" RELATED [MONDO:Lexical, OMIM:611465] -synonym: "gallbladder disease type 4" EXACT [MONDORULE:1, OMIM:611465] -synonym: "gallstones" BROAD [NCIT:C122822] -synonym: "GBD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611465] +synonym: "gallbladder disease 4" RELATED [MONDO:Lexical] +synonym: "gallbladder disease type 4" EXACT [MONDORULE:1] +synonym: "gallstones" BROAD [] +synonym: "GBD4" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:10211 {source="MONDO:equivalentTo", source="EFO:0004799"} xref: EFO:0004799 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1268183934 {source="MONDO:equivalentTo"} @@ -288639,7 +288689,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare synonym: "colorectal cancer, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:611469] -synonym: "colorectal cancer, susceptibility to, on chromosome 8Q24" RELATED [OMIM:611469] +synonym: "colorectal cancer, susceptibility to, on chromosome 8Q24" RELATED [] synonym: "CRCS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611469] xref: MEDGEN:369417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611469 {source="MONDO:equivalentTo"} @@ -288656,11 +288706,11 @@ def: "Any age-related macular degeneration in which the cause of the disease is subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "age related macular degeneration type 10" EXACT [DOID:0110022, MONDORULE:2] +synonym: "age related macular degeneration type 10" EXACT [MONDORULE:2] synonym: "age-related macular degeneration caused by mutation in TLR4" EXACT [MONDO:design_pattern] synonym: "ARMD10" EXACT ABBREVIATION [DOID:0110022, MONDO:Lexical, OMIM:611488] -synonym: "macular degeneration, age-related, 10" RELATED [MONDO:Lexical, OMIM:611488] -synonym: "macular Degeneration, age-related, type 10" EXACT [MONDORULE:2, OMIM:611488] +synonym: "macular degeneration, age-related, 10" RELATED [MONDO:Lexical] +synonym: "macular Degeneration, age-related, type 10" EXACT [MONDORULE:2] synonym: "TLR4 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110022 {source="MONDO:equivalentTo"} xref: MEDGEN:409758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -288683,12 +288733,12 @@ subset: ordo_disorder {source="Orphanet:199247"} subset: orphanet_rare {source="Orphanet:199247"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CBG deficiency" EXACT [DOID:0090030] -synonym: "Cbg deficiency" RELATED [OMIM:611489] -synonym: "corticosteroid-binding globulin deficiency" EXACT [OMIM:611489] -synonym: "corticosteroid-binding globulin, elevated" RELATED [OMIM:611489] -synonym: "Transcortin deficiency" EXACT [OMIM:611489, Orphanet:199247] -synonym: "transcortin deficiency" EXACT [DOID:0090030] +synonym: "CBG deficiency" EXACT [DOID:0090030, OMIM:611489] +synonym: "Cbg deficiency" RELATED [] +synonym: "corticosteroid-binding globulin deficiency" EXACT [DOID:0090030, OMIM:611489, Orphanet:199247] +synonym: "corticosteroid-binding globulin, elevated" RELATED [] +synonym: "Transcortin deficiency" EXACT [DOID:0090030, OMIM:611489, Orphanet:199247] +synonym: "transcortin deficiency" EXACT [DOID:0090030, OMIM:611489, Orphanet:199247] xref: DOID:0090030 {source="MONDO:equivalentTo"} xref: GARD:13101 {source="MONDO:GARD"} xref: ICD10CM:E27.8 {source="DOID:0090030", source="Orphanet:199247", source="Orphanet:199247/attributed", source="Orphanet:199247/ntbt"} @@ -288711,7 +288761,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive malignant osteopetrosis caused by mutation in CLCN7" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis caused by mutation in CLCN7" EXACT [] -synonym: "autosomal recessive osteopetrosis type 4" EXACT [DOID:0110944, MONDORULE:1] +synonym: "autosomal recessive osteopetrosis type 4" EXACT [MONDORULE:1] synonym: "CLCN7 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] synonym: "CLCN7 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "CLCN7-related osteopetrosis" EXACT [https://clinicalgenome.org/affiliation/40065/] @@ -288719,9 +288769,9 @@ synonym: "infantile malignant osteopetrosis 2" EXACT [DOID:0110944] synonym: "OPTB4" EXACT ABBREVIATION [DOID:0110944, MONDO:Lexical, OMIM:611490] synonym: "osteopetrosis autosomal recessive 4" RELATED [GARD:0005993] synonym: "osteopetrosis infantile malignant 2" RELATED [GARD:0005993] -synonym: "osteopetrosis, autosomal recessive 4" RELATED [MONDO:Lexical, OMIM:611490] -synonym: "osteopetrosis, autosomal recessive type 4" EXACT [MONDORULE:1, OMIM:611490] -synonym: "osteopetrosis, infantile malignant 2" RELATED [OMIM:611490] +synonym: "osteopetrosis, autosomal recessive 4" RELATED [MONDO:Lexical] +synonym: "osteopetrosis, autosomal recessive type 4" EXACT [MONDORULE:1] +synonym: "osteopetrosis, infantile malignant 2" RELATED [] xref: DOID:0110944 {source="MONDO:equivalentTo"} xref: GARD:5993 {source="MONDO:GARD"} xref: MEDGEN:370598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -288747,9 +288797,9 @@ def: "Any familial atrial fibrillation in which the cause of the disease is a mu subset: gard_rare {source="GARD:15516", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ATFB4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611493] +synonym: "ATFB4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrial fibrillation, familial, 4" EXACT [MONDO:Lexical, OMIM:611493] -synonym: "atrial fibrillation, familial, type 4" EXACT [MONDORULE:1, OMIM:611493] +synonym: "atrial fibrillation, familial, type 4" EXACT [MONDORULE:1] synonym: "familial atrial fibrillation caused by mutation in KCNE2" EXACT [MONDO:design_pattern] synonym: "KCNE2 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15516 {source="MONDO:GARD"} @@ -288791,15 +288841,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive intermediate osteopetrosis" EXACT [Orphanet:210110] synonym: "autosomal recessive osteopetrosis intermediate form" EXACT [DOID:0110945] -synonym: "autosomal recessive osteopetrosis type 6" EXACT [DOID:0110945, MONDORULE:1] -synonym: "intermediate osteopetrosis" RELATED [Orphanet:210110] +synonym: "autosomal recessive osteopetrosis type 6" EXACT [MONDORULE:1] +synonym: "intermediate osteopetrosis" RELATED [] synonym: "OPTB6" EXACT ABBREVIATION [DOID:0110945, MONDO:Lexical, OMIM:611497] synonym: "osteopetrosis (disease) caused by mutation in PLEKHM1" EXACT [] synonym: "osteopetrosis autosomal recessive 6" RELATED [GARD:0004156] synonym: "osteopetrosis autosomal recessive intermediate form" RELATED [GARD:0004156] -synonym: "osteopetrosis, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:611497] -synonym: "osteopetrosis, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:611497] -synonym: "osteopetrosis, autosomal recessive, Intermediate form" RELATED [OMIM:611497] +synonym: "osteopetrosis, autosomal recessive 6" RELATED [MONDO:Lexical] +synonym: "osteopetrosis, autosomal recessive type 6" EXACT [MONDORULE:1] +synonym: "osteopetrosis, autosomal recessive, Intermediate form" RELATED [] synonym: "PLEKHM1 osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110945 {source="MONDO:equivalentTo"} xref: GARD:4156 {source="MONDO:GARD"} @@ -288825,8 +288875,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GLIS2 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nephronophthisis (disease) caused by mutation in GLIS2" EXACT [] -synonym: "nephronophthisis 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:611498] -synonym: "nephronophthisis type 7" EXACT [DOID:0111116, MONDORULE:1, OMIM:611498] +synonym: "nephronophthisis 7" EXACT CLINGEN_LABEL [DOID:0111116, MONDO:Lexical, OMIM:611498] +synonym: "nephronophthisis type 7" EXACT [MONDORULE:1] synonym: "NPHP7" EXACT ABBREVIATION [DOID:0111116, MONDO:Lexical, OMIM:611498] xref: DOID:0111116 {source="MONDO:equivalentTo"} xref: MEDGEN:369409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -288844,8 +288894,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012681 name: febrile seizures, familial, 7 -synonym: "FEB7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611515] -synonym: "febrile convulsions, familial, 7" RELATED [OMIM:611515] +synonym: "FEB7" EXACT ABBREVIATION [DOID:0111311, MONDO:Lexical, OMIM:611515] +synonym: "febrile convulsions, familial, 7" RELATED [] synonym: "febrile seizures, familial, 7" EXACT [MONDO:Lexical, OMIM:611515] xref: DOID:0111311 {source="MONDO:equivalentTo"} xref: MEDGEN:369406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -288866,17 +288916,17 @@ subset: ordo_disorder {source="Orphanet:331226"} subset: orphanet_rare {source="Orphanet:331226"} subset: predisposition subset: rare -synonym: "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency" EXACT [Orphanet:331226] +synonym: "autosomal recessive hyper-IgE syndrome due to TYK2 deficiency" EXACT [] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "HIES with atypical Mycobacteriosis, autosomal recessive" EXACT [OMIM:611521] synonym: "hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive" EXACT [OMIM:611521] -synonym: "IMD35" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611521] -synonym: "immunodeficiency 35" EXACT [MONDO:Lexical, OMIM:611521] -synonym: "immunodeficiency type 35" EXACT [MONDORULE:2, OMIM:611521] -synonym: "susceptibility to infection due to TYK2 deficiency" EXACT [] +synonym: "IMD35" EXACT ABBREVIATION [DOID:0111989, MONDO:Lexical, OMIM:611521] +synonym: "immunodeficiency 35" EXACT [DOID:0111989, MONDO:Lexical, OMIM:611521] +synonym: "immunodeficiency type 35" EXACT [MONDORULE:2] +synonym: "susceptibility to infection due to TYK2 deficiency" EXACT [DOID:0111989, Orphanet:331226] synonym: "TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "TYK2 deficiency" EXACT [OMIM:611521] -synonym: "tyrosine kinase 2 deficiency" EXACT [OMIM:611521] +synonym: "TYK2 deficiency" EXACT [DOID:0111989, OMIM:611521] +synonym: "tyrosine kinase 2 deficiency" EXACT [DOID:0111989, OMIM:611521] xref: DOID:0111989 {source="MONDO:equivalentTo"} xref: GARD:17514 {source="MONDO:GARD"} xref: ICD10CM:D82.4 {source="Orphanet:331226", source="Orphanet:331226/attributed", source="Orphanet:331226/ntbt"} @@ -288901,12 +288951,12 @@ subset: orphanet_rare {source="Orphanet:166073"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "encephalopathy fatal infantile with mitochondrial respiratory chain defects" RELATED [GARD:0010710] -synonym: "encephalopathy, fatal infantile, with mitochondrial respiratory chain defects" RELATED [OMIM:611523] +synonym: "encephalopathy, fatal infantile, with mitochondrial respiratory chain defects" RELATED [] synonym: "fatal infantile encephalopathy with mitochondrial respiratory chain defects" EXACT [Orphanet:166073] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2" EXACT [MONDO:design_pattern] synonym: "PCH6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611523, Orphanet:166073] -synonym: "pontocerebellar hypoplasia type 6" EXACT CLINGEN_LABEL [] -synonym: "pontocerebellar hypoplasia, type 6" RELATED [MONDO:Lexical, OMIM:611523] +synonym: "pontocerebellar hypoplasia type 6" EXACT CLINGEN_LABEL [DOID:0060275, icd11.foundation:1612653027, Orphanet:166073] +synonym: "pontocerebellar hypoplasia, type 6" RELATED [MONDO:Lexical] synonym: "RARS2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060275 {source="MONDO:equivalentTo"} xref: GARD:10710 {source="MONDO:GARD"} @@ -288933,10 +288983,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arrhythmogenic right ventricular cardiomyopathy 12" EXACT [DOID:0110083, OMIM:611528] -synonym: "arrhythmogenic right ventricular dysplasia 12" EXACT CLINGEN_LABEL [] -synonym: "arrhythmogenic right ventricular dysplasia type 12" EXACT [DOID:0110083, MONDORULE:2] -synonym: "arrhythmogenic right ventricular dysplasia, familial, 12" RELATED [MONDO:Lexical, OMIM:611528] -synonym: "arrhythmogenic right ventricular dysplasia, familial, type 12" EXACT [MONDORULE:2, OMIM:611528] +synonym: "arrhythmogenic right ventricular dysplasia 12" EXACT CLINGEN_LABEL [DOID:0110083] +synonym: "arrhythmogenic right ventricular dysplasia type 12" EXACT [MONDORULE:2] +synonym: "arrhythmogenic right ventricular dysplasia, familial, 12" RELATED [MONDO:Lexical] +synonym: "arrhythmogenic right ventricular dysplasia, familial, type 12" EXACT [MONDORULE:2] synonym: "ARVC12" EXACT ABBREVIATION [DOID:0110083] synonym: "ARVD12" EXACT ABBREVIATION [DOID:0110083, MONDO:Lexical, OMIM:611528] synonym: "familial arrhythmogenic right ventricular dysplasia 12" EXACT [DOID:0110083] @@ -288957,9 +289007,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012685 name: major affective disorder 5 -synonym: "bipolar affective disorder" RELATED [OMIM:611535] +synonym: "bipolar affective disorder" RELATED [] synonym: "MAFD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611535] -synonym: "MAJOR affective disorder 5" RELATED [OMIM:611535] +synonym: "MAJOR affective disorder 5" RELATED [] synonym: "major affective disorder 5" EXACT [OMIM:611535] xref: MEDGEN:372672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567074 {source="MONDO:equivalentTo"} @@ -288971,9 +289021,9 @@ is_a: MONDO:0004985 {source="DC-OMIM:611535", source="MESH:C567074", source="htt [Term] id: MONDO:0012686 name: major affective disorder 6 -synonym: "bipolar affective disorder" RELATED [OMIM:611536] +synonym: "bipolar affective disorder" RELATED [] synonym: "MAFD6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611536] -synonym: "MAJOR affective disorder 6" RELATED [OMIM:611536] +synonym: "MAJOR affective disorder 6" RELATED [] synonym: "major affective disorder 6" EXACT [OMIM:611536] xref: MEDGEN:372673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567075 {source="MONDO:equivalentTo"} @@ -288991,8 +289041,8 @@ subset: ordo_disorder {source="Orphanet:464760"} subset: ordo_morphological_anomaly {source="Orphanet:464760"} subset: orphanet_rare {source="Orphanet:464760"} subset: rare -synonym: "cavitary optic DISC anomalies" RELATED [MONDO:Lexical, OMIM:611543] -synonym: "CODA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611543] +synonym: "cavitary optic DISC anomalies" RELATED [MONDO:Lexical] +synonym: "CODA" RELATED ABBREVIATION [MONDO:Lexical] synonym: "familial CODA" EXACT [Orphanet:464760] xref: GARD:17822 {source="MONDO:GARD"} xref: MEDGEN:370593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -289012,9 +289062,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive congenital nuclear cataract 3" NARROW [DOID:0110270] -synonym: "cataract 17, multiple types" RELATED [MONDO:Lexical, OMIM:611544] -synonym: "cataract 17, multiple types, with or without microcornea" RELATED [OMIM:611544] -synonym: "cataract, congenital nuclear, autosomal recessive 3" RELATED [OMIM:611544] +synonym: "cataract 17, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract 17, multiple types, with or without microcornea" RELATED [] +synonym: "cataract, congenital nuclear, autosomal recessive 3" RELATED [] synonym: "CATCN3" NARROW ABBREVIATION [DOID:0110270] synonym: "CRYBB1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CTRCT17" EXACT ABBREVIATION [DOID:0110270, MONDO:Lexical, OMIM:611544] @@ -289041,9 +289091,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "NOBOX primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Pof5" RELATED [MONDO:Lexical, OMIM:611548] +synonym: "Pof5" RELATED [MONDO:Lexical] synonym: "premature ovarian failure 5" EXACT [MONDO:Lexical, OMIM:611548] -synonym: "premature ovarian failure type 5" EXACT [MONDORULE:1, OMIM:611548] +synonym: "premature ovarian failure type 5" EXACT [MONDORULE:1] synonym: "primary ovarian failure caused by mutation in NOBOX" EXACT [MONDO:design_pattern] xref: DOID:0080862 {source="MONDO:equivalentTo"} xref: MEDGEN:409743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -289064,10 +289114,10 @@ def: "Any Noonan syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:10700", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Noonan syndrome 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:611553] +synonym: "Noonan syndrome 5" EXACT CLINGEN_LABEL [DOID:0060583, MONDO:Lexical, NCIT:C176933, OMIM:611553] synonym: "Noonan syndrome caused by mutation in RAF1" EXACT [MONDO:design_pattern] -synonym: "Noonan syndrome type 5" EXACT [DOID:0060583, MONDORULE:1, OMIM:611553] -synonym: "NS5" EXACT ABBREVIATION [DOID:0060583, MONDO:Lexical, OMIM:611553] +synonym: "Noonan syndrome type 5" EXACT [MONDORULE:1] +synonym: "NS5" EXACT ABBREVIATION [DOID:0060583, MONDO:Lexical, NCIT:C176933, OMIM:611553] synonym: "RAF1 gene related Noonan syndrome" RELATED [GARD:0010700] synonym: "RAF1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060583 {source="MONDO:equivalentTo"} @@ -289091,10 +289141,10 @@ def: "Any Noonan syndrome with multiple lentigines in which the cause of the dis subset: gard_rare {source="GARD:15518", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "LEOPARD syndrome 2" EXACT CLINGEN_LABEL [OMIM:611554] -synonym: "leopard syndrome 2" EXACT [MONDO:Lexical, OMIM:611554] -synonym: "Leopard syndrome type 2" EXACT [MONDORULE:1, OMIM:611554] -synonym: "LPRD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611554] +synonym: "LEOPARD syndrome 2" EXACT CLINGEN_LABEL [DOID:0080549, OMIM:611554] +synonym: "leopard syndrome 2" EXACT [DOID:0080549, MONDO:Lexical, OMIM:611554] +synonym: "Leopard syndrome type 2" EXACT [MONDORULE:1] +synonym: "LPRD2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080549 {source="MONDO:equivalentTo"} xref: GARD:15518 {source="MONDO:GARD"} xref: MEDGEN:370588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -289111,7 +289161,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0012692 name: renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies -synonym: "renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies" EXACT [OMIM:611555] +synonym: "renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies" EXACT [] synonym: "renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies" EXACT DEPRECATED [OMIM:611555] xref: MEDGEN:370587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566918 {source="MONDO:equivalentTo"} @@ -289129,19 +289179,19 @@ subset: ordo_disorder {source="Orphanet:137625"} subset: orphanet_rare {source="Orphanet:137625"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glycogen storage disease 0, muscle" RELATED [MONDO:Lexical, OMIM:611556] +synonym: "glycogen storage disease 0, muscle" RELATED [MONDO:Lexical] synonym: "glycogen storage disease due to glycogen synthase deficiency of heart" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease type 0, muscle" RELATED [GARD:0010760] synonym: "glycogen storage disease type 0b" EXACT [Orphanet:137625] synonym: "glycogenosis due to muscle and heart glycogen synthase deficiency" EXACT [Orphanet:137625] synonym: "glycogenosis type 0b" EXACT [Orphanet:137625] -synonym: "GSD 0B" RELATED [OMIM:611556] +synonym: "GSD 0B" RELATED [] synonym: "GSD due to muscle and heart glycogen synthase deficiency" EXACT [Orphanet:137625] synonym: "GSD type 0b" EXACT [Orphanet:137625] -synonym: "GSD0B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611556] +synonym: "GSD0B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "heart glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "muscle glycogen storage disease 0" RELATED [OMIM:611556] -synonym: "muscle glycogen synthase deficiency" RELATED [OMIM:611556] +synonym: "muscle glycogen storage disease 0" RELATED [] +synonym: "muscle glycogen synthase deficiency" RELATED [] xref: GARD:10760 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:137625", source="Orphanet:137625/attributed", source="Orphanet:137625/ntbt"} xref: MEDGEN:409741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -289162,10 +289212,10 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:15519", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "JBTS7" EXACT ABBREVIATION [DOID:0111002, MONDO:Lexical, OMIM:611560] -synonym: "Joubert syndrome 7" EXACT [MONDO:Lexical, OMIM:611560] +synonym: "JBTS7" EXACT ABBREVIATION [DOID:0111002, MONDO:Lexical, NCIT:C159653, OMIM:611560] +synonym: "Joubert syndrome 7" EXACT [DOID:0111002, MONDO:Lexical, NCIT:C159653, OMIM:611560] synonym: "Joubert syndrome caused by mutation in RPGRIP1L" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 7" EXACT [DOID:0111002, MONDORULE:1, OMIM:611560] +synonym: "Joubert syndrome type 7" EXACT [MONDORULE:1] synonym: "RPGRIP1L Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111002 {source="MONDO:equivalentTo"} xref: GARD:15519 {source="MONDO:GARD"} @@ -289187,7 +289237,7 @@ def: "Any Meckel syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:15520", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Meckel syndrome 5" RELATED [DOID:0070119] +synonym: "Meckel syndrome 5" RELATED [] synonym: "Meckel syndrome caused by mutation in RPGRIP1L" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 5" EXACT [MONDO:Lexical, OMIM:611561] synonym: "Meckel-Gruber syndrome, type 5" EXACT [DOID:0070119] @@ -289213,8 +289263,8 @@ id: MONDO:0012696 name: otosclerosis 4 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "otosclerosis 4" EXACT [MONDO:Lexical, OMIM:611571] -synonym: "OTSC4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611571] +synonym: "otosclerosis 4" EXACT [DOID:0060923, MONDO:Lexical, OMIM:611571] +synonym: "OTSC4" EXACT ABBREVIATION [DOID:0060923, MONDO:Lexical, OMIM:611571] xref: DOID:0060923 {source="MONDO:equivalentTo"} xref: MEDGEN:369916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566914 {source="MONDO:equivalentTo"} @@ -289229,8 +289279,8 @@ id: MONDO:0012697 name: otosclerosis 7 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "otosclerosis 7" EXACT [MONDO:Lexical, OMIM:611572] -synonym: "OTSC7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611572] +synonym: "otosclerosis 7" EXACT [DOID:0060925, MONDO:Lexical, OMIM:611572] +synonym: "OTSC7" EXACT ABBREVIATION [DOID:0060925, MONDO:Lexical, OMIM:611572] xref: DOID:0060925 {source="MONDO:equivalentTo"} xref: MEDGEN:409738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566913 {source="MONDO:equivalentTo"} @@ -289247,16 +289297,16 @@ def: "Any Waardenburg syndrome type 2 in which the cause of the disease is a mut subset: gard_rare {source="GARD:15521", source="MONDO:GARD"} subset: rare synonym: "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation" EXACT [DOID:0110956] -synonym: "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation" RELATED [OMIM:611584] +synonym: "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation" RELATED [] synonym: "SOX10 Waardenburg syndrome type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Waardenburg syndrome type 2 caused by mutation in SOX10" EXACT [MONDO:design_pattern] synonym: "Waardenburg syndrome type 2E with or without neurologic involvement" EXACT [DOID:0110956] synonym: "Waardenburg syndrome type IIE" EXACT [DOID:0110956] -synonym: "Waardenburg syndrome, type 2E" RELATED [MONDO:Lexical, OMIM:611584] -synonym: "Waardenburg syndrome, type 2E, with or without neurologic involvement" RELATED [OMIM:611584] +synonym: "Waardenburg syndrome, type 2E" RELATED [MONDO:Lexical] +synonym: "Waardenburg syndrome, type 2E, with or without neurologic involvement" RELATED [] synonym: "WS2E" EXACT ABBREVIATION [DOID:0110956, MONDO:Lexical, OMIM:611584] synonym: "WS2E with or without neurological involvement" EXACT [DOID:0110956] -synonym: "Ws2E, with or without neurologic involvement" RELATED [OMIM:611584] +synonym: "Ws2E, with or without neurologic involvement" RELATED [] xref: DOID:0110956 {source="MONDO:equivalentTo"} xref: GARD:15521 {source="MONDO:GARD"} xref: MEDGEN:398476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -289287,9 +289337,9 @@ synonym: "LGMD-FKTN related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/aff synonym: "LGMD2M" EXACT ABBREVIATION [DOID:0110296, Orphanet:206554] synonym: "limb-girdle muscular dystrophy type 2M" RELATED [GARD:0012538] synonym: "MDDGC4" EXACT ABBREVIATION [DOID:0110296, MONDO:Lexical, OMIM:611588] -synonym: "muscular dystrophy, limb-girdle, type 2M" RELATED [OMIM:611588] +synonym: "muscular dystrophy, limb-girdle, type 2M" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4" EXACT [DOID:0110296] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4" RELATED [MONDO:Lexical, OMIM:611588] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4" RELATED [MONDO:Lexical] xref: DOID:0110296 {source="MONDO:equivalentTo"} xref: GARD:12538 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:206554/attributed", source="Orphanet:206554/ntbt", source="DOID:0110296", source="Orphanet:206554"} @@ -289319,16 +289369,16 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93610"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal renal tubular acidosis 4 with hemolytic anaemia" EXACT OMO:0003005 [] -synonym: "distal renal tubular acidosis 4 with hemolytic anemia" EXACT [OMIM:611590, OMIM:genemap2] +synonym: "distal renal tubular acidosis 4 with hemolytic anemia" EXACT [] synonym: "distal renal tubular acidosis with anaemia" EXACT OMO:0003005 [] synonym: "distal renal tubular acidosis with anemia" EXACT [Orphanet:93610] synonym: "dRTA with anaemia" EXACT OMO:0003005 [] synonym: "dRTA with anemia" EXACT [Orphanet:93610] synonym: "renal tubular acidosis, distal, with hemolytic anaemia" RELATED OMO:0003005 [] -synonym: "renal tubular acidosis, distal, with hemolytic anemia" RELATED [OMIM:611590] -synonym: "renal tubular acidosis, distal, with normal Red cell morphology" RELATED [OMIM:611590] +synonym: "renal tubular acidosis, distal, with hemolytic anemia" RELATED [] +synonym: "renal tubular acidosis, distal, with normal Red cell morphology" RELATED [] synonym: "RTA, distal, autosomal recessive, with hemolytic Anaemia" RELATED OMO:0003005 [] -synonym: "RTA, distal, autosomal recessive, with hemolytic Anemia" RELATED [OMIM:611590] +synonym: "RTA, distal, autosomal recessive, with hemolytic Anemia" RELATED [] xref: GARD:12354 {source="MONDO:GARD"} xref: ICD10CM:N25.8 {source="Orphanet:93610", source="Orphanet:93610/attributed", source="Orphanet:93610/ntbt"} xref: MEDGEN:1771439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -289347,7 +289397,7 @@ id: MONDO:0012701 name: cataract 12 multiple types def: "A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22." [DOID:0110239, PMID:10729115] subset: otar {source="MONDO:OTAR"} -synonym: "cataract 12, multiple types" RELATED [MONDO:Lexical, OMIM:611597] +synonym: "cataract 12, multiple types" RELATED [MONDO:Lexical] synonym: "CTRCT12" EXACT ABBREVIATION [DOID:0110239, MONDO:Lexical, OMIM:611597] xref: DOID:0110239 {source="MONDO:equivalentTo"} xref: ICD10CM:Q12.0 {source="DOID:0110239"} @@ -289364,10 +289414,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012702 name: celiac disease, susceptibility to, 6 subset: predisposition -synonym: "autoimmune disease, susceptibility to, 5" RELATED [OMIM:611598] +synonym: "autoimmune disease, susceptibility to, 5" RELATED [] synonym: "celiac disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:611598] synonym: "CELIAC6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611598] -synonym: "gluten-sensitive enteropathy, susceptibility to, 6" RELATED [OMIM:611598] +synonym: "gluten-sensitive enteropathy, susceptibility to, 6" RELATED [] xref: MEDGEN:369397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611598 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:611598"} @@ -289388,8 +289438,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:171680"} subset: orphanet_rare {source="Orphanet:171680"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LIS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611603] -synonym: "lissencephaly 3" EXACT [MONDO:Lexical, OMIM:611603] +synonym: "LIS3" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C148461, OMIM:611603] +synonym: "lissencephaly 3" EXACT [MONDO:Lexical, NCIT:C148461, OMIM:611603] xref: GARD:17066 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:171680/attributed", source="Orphanet:171680/ntbt", source="Orphanet:171680"} xref: MEDGEN:930822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -289409,11 +289459,11 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15522", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1X" RELATED [MONDO:Lexical, OMIM:611615] -synonym: "cardiomyopathy, dilated, type 1X" EXACT [MONDORULE:4, OMIM:611615] -synonym: "cardiomyopathy, dilated, with mild or No proximal muscle weakness" RELATED [OMIM:611615] +synonym: "cardiomyopathy, dilated, 1X" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1X" EXACT [MONDORULE:4] +synonym: "cardiomyopathy, dilated, with mild or No proximal muscle weakness" RELATED [] synonym: "CMD1X" EXACT ABBREVIATION [DOID:0110444, MONDO:Lexical, OMIM:611615] -synonym: "dilated cardiomyopathy type 1X" EXACT [DOID:0110444, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1X" EXACT [MONDORULE:4] synonym: "dilated cardiomyopathy with mild or no proximal muscle weakness" EXACT [DOID:0110444] synonym: "familial isolated dilated cardiomyopathy caused by mutation in FKTN" EXACT [MONDO:design_pattern] synonym: "FKTN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -289434,11 +289484,11 @@ name: familial temporal lobe epilepsy 3 subset: gard_rare {source="GARD:18279", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "epilepsy, familial mesial temporal lobe" RELATED [OMIM:611630] -synonym: "epilepsy, familial temporal lobe, 3" RELATED [MONDO:Lexical, OMIM:611630] +synonym: "epilepsy, familial mesial temporal lobe" RELATED [] +synonym: "epilepsy, familial temporal lobe, 3" RELATED [MONDO:Lexical] synonym: "ETL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611630] synonym: "familial mesial temporal lobe epilepsy" EXACT [DOID:0060750] -synonym: "familial temporal lobe epilepsy type 3" EXACT [DOID:0060750, MONDORULE:1] +synonym: "familial temporal lobe epilepsy type 3" EXACT [MONDORULE:1] synonym: "FMTLE" EXACT ABBREVIATION [DOID:0060750] xref: DOID:0060750 {source="MONDO:equivalentTo"} xref: GARD:18279 {source="MONDO:GARD"} @@ -289456,12 +289506,12 @@ def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance o subset: gard_rare {source="GARD:15523", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "epilepsy, familial temporal lobe, 4" RELATED [MONDO:Lexical, OMIM:611631] -synonym: "epilepsy, occipitotemporal lobe, and migraine with aura" RELATED [OMIM:611631] -synonym: "EPOLM" RELATED ABBREVIATION [DOID:0060753] +synonym: "epilepsy, familial temporal lobe, 4" RELATED [MONDO:Lexical] +synonym: "epilepsy, occipitotemporal lobe, and migraine with aura" RELATED [] +synonym: "EPOLM" RELATED ABBREVIATION [] synonym: "ETL4" EXACT ABBREVIATION [DOID:0060753, MONDO:Lexical, OMIM:611631] -synonym: "familial temporal lobe epilepsy type 4" EXACT [DOID:0060753, MONDORULE:1] -synonym: "occipitotemporal lobe epilepsy and migraine with aura" RELATED [DOID:0060753] +synonym: "familial temporal lobe epilepsy type 4" EXACT [MONDORULE:1] +synonym: "occipitotemporal lobe epilepsy and migraine with aura" RELATED [] xref: DOID:0060753 {source="MONDO:equivalentTo"} xref: GARD:15523 {source="MONDO:GARD"} xref: MEDGEN:368897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -289474,9 +289524,9 @@ is_a: MONDO:0005115 {source="DOID:0060753", source="OMIM:611631"} ! temporal lob [Term] id: MONDO:0012707 name: familial febrile seizures 9 -synonym: "FEB9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611634] -synonym: "febrile convulsions, familial, 9" RELATED [OMIM:611634] -synonym: "febrile seizures, familial, 9" RELATED [MONDO:Lexical, OMIM:611634] +synonym: "FEB9" EXACT ABBREVIATION [DOID:0111303, MONDO:Lexical, OMIM:611634] +synonym: "febrile convulsions, familial, 9" RELATED [] +synonym: "febrile seizures, familial, 9" RELATED [MONDO:Lexical] xref: DOID:0111303 {source="MONDO:equivalentTo"} xref: MEDGEN:369868 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566901 {source="MONDO:equivalentTo"} @@ -289490,9 +289540,9 @@ id: MONDO:0012708 name: primary lateral sclerosis, adult, 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Pls, adult" RELATED [OMIM:611637] +synonym: "Pls, adult" RELATED [] synonym: "PLSA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611637] -synonym: "primary lateral sclerosis, ADULT, 1" RELATED [MONDO:Lexical, OMIM:611637] +synonym: "primary lateral sclerosis, ADULT, 1" RELATED [MONDO:Lexical] xref: MEDGEN:369357 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566900 {source="MONDO:equivalentTo"} xref: OMIM:611637 {source="MONDO:equivalentTo"} @@ -289507,12 +289557,12 @@ def: "Any microphthalmia, isolated, with coloboma in which the cause of the dise subset: gard_rare {source="GARD:15524", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCOPCB5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611638] -synonym: "microphthalmia with coloboma 5" EXACT [OMIM:611638, OMIM:genemap2] -synonym: "microphthalmia, isolated, with coloboma 5" EXACT [MONDO:Lexical, OMIM:611638] +synonym: "MCOPCB5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microphthalmia with coloboma 5" EXACT [] +synonym: "microphthalmia, isolated, with coloboma 5" EXACT [MONDO:Lexical] synonym: "microphthalmia, isolated, with coloboma caused by mutation in SHH" EXACT [] synonym: "microphthalmia, isolated, with coloboma caused by mutation in Shh" EXACT [MONDO:design_pattern] -synonym: "microphthalmia, isolated, with coloboma type 5" EXACT [MONDORULE:1, OMIM:611638] +synonym: "microphthalmia, isolated, with coloboma type 5" EXACT [MONDORULE:1] synonym: "SHH microphthalmia, isolated, with coloboma" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Shh microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern] xref: GARD:15524 {source="MONDO:GARD"} @@ -289543,11 +289593,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012711 name: peripapillary atrophy, beta type -synonym: "Beta-PPA" RELATED [OMIM:611650] -synonym: "peripapillary atrophy, BETA type" RELATED [OMIM:611650] +synonym: "Beta-PPA" RELATED [] +synonym: "peripapillary atrophy, BETA type" RELATED [] synonym: "peripapillary atrophy, beta type" EXACT [MONDO:Lexical, OMIM:611650] -synonym: "peripapillary chorioretinal atrophy, Beta type" RELATED [OMIM:611650] -synonym: "PPAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611650] +synonym: "peripapillary chorioretinal atrophy, Beta type" RELATED [] +synonym: "PPAB" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:409689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566898 {source="MONDO:equivalentTo"} xref: OMIM:611650 {source="MONDO:equivalentTo"} @@ -289591,10 +289641,10 @@ subset: ordo_disorder {source="Orphanet:289377"} subset: orphanet_rare {source="Orphanet:289377"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EOMFC" RELATED ABBREVIATION [OMIM:611705] -synonym: "myopathy, early-onset, with fatal cardiomyopathy" RELATED [OMIM:611705] -synonym: "Salih myopathy" EXACT [Orphanet:289377] -synonym: "SALMY" RELATED ABBREVIATION [OMIM:611705] +synonym: "EOMFC" RELATED ABBREVIATION [] +synonym: "myopathy, early-onset, with fatal cardiomyopathy" RELATED [] +synonym: "Salih myopathy" EXACT [DOID:0081341, OMIM:611705, Orphanet:289377] +synonym: "SALMY" RELATED ABBREVIATION [] xref: DOID:0081341 {source="MONDO:equivalentTo"} xref: GARD:17324 {source="MONDO:GARD"} xref: ICD10CM:G71.8 {source="Orphanet:289377/attributed", source="Orphanet:289377/ntbt", source="Orphanet:289377"} @@ -289616,7 +289666,7 @@ name: migraine with or without aura, susceptibility to, 12 subset: predisposition synonym: "MGR12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611706] synonym: "migraine with or without aura, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:611706] -synonym: "migraine, with or without aura, susceptibility to, 12" EXACT [OMIM:611706, OMIM:genemap2] +synonym: "migraine, with or without aura, susceptibility to, 12" EXACT [] xref: MEDGEN:388698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611706 {source="MONDO:equivalentTo"} xref: UMLS:C2673676 {source="MEDGEN:388698", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -289633,13 +289683,13 @@ subset: ordo_disorder {source="Orphanet:163654"} subset: orphanet_rare {source="Orphanet:163654"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fantasy Island syndrome" RELATED [OMIM:611717] -synonym: "SED-BDS" EXACT [Orphanet:163654] -synonym: "Sed-BDS" RELATED [OMIM:611717] -synonym: "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech" RELATED [OMIM:611717] +synonym: "fantasy Island syndrome" RELATED [] +synonym: "SED-BDS" EXACT ABBREVIATION [DOID:0112287, OMIM:611717, Orphanet:163654] +synonym: "Sed-BDS" RELATED [] +synonym: "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech" RELATED [] synonym: "spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome" EXACT [Orphanet:163654] -synonym: "Tatoo dysplasia" RELATED [OMIM:611717] -synonym: "tattoo dysplasia" EXACT [Orphanet:163654] +synonym: "Tatoo dysplasia" RELATED [] +synonym: "tattoo dysplasia" EXACT [DOID:0112287, Orphanet:163654] xref: DOID:0112287 {source="MONDO:equivalentTo"} xref: GARD:10629 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:163654", source="Orphanet:163654/attributed", source="Orphanet:163654/ntbt"} @@ -289663,10 +289713,10 @@ synonym: "EGF familial primary hypomagnesemia" EXACT [MONDO:patterns/disease_ser synonym: "EGF primary hypomagnesemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial primary hypomagnesemia caused by mutation in EGF" EXACT [] synonym: "HOMG4" EXACT ABBREVIATION [DOID:0060882, MONDO:Lexical, OMIM:611718] -synonym: "hypomagnesemia 4, renal" RELATED [MONDO:Lexical, OMIM:611718] -synonym: "hypomagnesemia, renal, Normocalciuric" RELATED [OMIM:611718] +synonym: "hypomagnesemia 4, renal" RELATED [MONDO:Lexical] +synonym: "hypomagnesemia, renal, Normocalciuric" RELATED [] synonym: "primary hypomagnesemia caused by mutation in EGF" EXACT [MONDO:design_pattern] -synonym: "renal hypomagnesemia type 4" EXACT [DOID:0060882, MONDORULE:1] +synonym: "renal hypomagnesemia type 4" EXACT [MONDORULE:1] xref: DOID:0060882 {source="MONDO:equivalentTo"} xref: ICD10CM:E83.4 {source="DOID:0060882"} xref: MEDGEN:388692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -289691,10 +289741,10 @@ subset: orphanet_rare {source="Orphanet:137908"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "combined oxidative phosphorylation defect type 5" EXACT [Orphanet:137908] -synonym: "combined oxidative phosphorylation deficiency 5" RELATED [MONDO:Lexical, OMIM:611719] +synonym: "combined oxidative phosphorylation deficiency 5" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPS22" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 5" EXACT [MONDORULE:1, OMIM:611719] -synonym: "COXPD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611719, Orphanet:137908] +synonym: "combined oxidative phosphorylation deficiency type 5" EXACT [MONDORULE:1] +synonym: "COXPD5" EXACT ABBREVIATION [DOID:0111473, MONDO:Lexical, OMIM:611719, Orphanet:137908] synonym: "MRPS22 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111473 {source="MONDO:equivalentTo"} xref: GARD:16950 {source="MONDO:GARD"} @@ -289724,10 +289774,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "combined prosaposin deficiency" EXACT [Orphanet:139406] synonym: "combined SAP deficiency" RELATED [GARD:0012505] -synonym: "combined Sap deficiency" RELATED [OMIM:611721] -synonym: "combined saposin deficiency" RELATED [GARD:0012505, OMIM:611721] -synonym: "encephalopathy due to prosaposin deficiency" EXACT [Orphanet:139406] -synonym: "prosaposin deficiency" RELATED [OMIM:611721] +synonym: "combined Sap deficiency" RELATED [] +synonym: "combined saposin deficiency" RELATED [GARD:0012505] +synonym: "encephalopathy due to prosaposin deficiency" EXACT [DOID:0111330, Orphanet:139406] +synonym: "prosaposin deficiency" RELATED [] synonym: "PSAPD" RELATED ABBREVIATION [GARD:0012505] xref: DOID:0111330 {source="MONDO:equivalentTo"} xref: GARD:12505 {source="MONDO:GARD"} @@ -289752,10 +289802,10 @@ subset: gard_rare {source="GARD:10289", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Krabbe disease, atypical" EXACT [OMIM:611722, OMIM:genemap2] +synonym: "Krabbe disease, atypical" EXACT [] synonym: "Krabbe disease, atypical due to saposin A deficiency" EXACT [GARD:0010289] synonym: "Krabbe disease, atypical, due to saposin A deficiency" EXACT [OMIM:611722] -synonym: "saposin A deficiency" RELATED [OMIM:611722] +synonym: "saposin A deficiency" RELATED [] xref: GARD:10289 {source="MONDO:GARD"} xref: MEDGEN:392873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567097 {source="MONDO:equivalentTo"} @@ -289780,19 +289830,19 @@ subset: ordo_disorder {source="Orphanet:263516"} subset: orphanet_rare {source="Orphanet:263516"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ceroid lipofuscinosis, neuronal, 14" RELATED [OMIM:611726] +synonym: "ceroid lipofuscinosis, neuronal, 14" RELATED [] synonym: "epilepsy progressive myoclonic type 3" RELATED [GARD:0002167] -synonym: "epilepsy, progressive myoclonic 3, with or without intracellular inclusions" EXACT [OMIM:611726, OMIM:genemap2] -synonym: "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions" RELATED [MONDO:Lexical, OMIM:611726] +synonym: "epilepsy, progressive myoclonic 3, with or without intracellular inclusions" EXACT [] +synonym: "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions" RELATED [MONDO:Lexical] synonym: "EPM 3" RELATED [GARD:0002167] -synonym: "EPM3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611726, Orphanet:263516] +synonym: "EPM3" EXACT ABBREVIATION [DOID:0111446, MONDO:Lexical, OMIM:611726, Orphanet:263516] synonym: "KCTD7 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PME type 3" EXACT [Orphanet:263516] +synonym: "PME type 3" EXACT [DOID:0111446, Orphanet:263516] synonym: "progressive myoclonic epilepsy 3" RELATED [GARD:0002167] synonym: "progressive myoclonic epilepsy caused by mutation in KCTD7" EXACT [MONDO:design_pattern] -synonym: "progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT [Orphanet:263516] -synonym: "progressive myoclonic epilepsy type 3" EXACT CLINGEN_LABEL [] -synonym: "progressive myoclonus epilepsy type 3" EXACT [Orphanet:263516] +synonym: "progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT [DOID:0111446, Orphanet:263516] +synonym: "progressive myoclonic epilepsy type 3" EXACT CLINGEN_LABEL [icd11.foundation:383417276, Orphanet:263516] +synonym: "progressive myoclonus epilepsy type 3" EXACT [DOID:0111446, Orphanet:263516] xref: DOID:0111446 {source="MONDO:equivalentTo"} xref: GARD:2167 {source="MONDO:GARD"} xref: ICD10CM:G40.3 {source="Orphanet:263516/attributed", source="Orphanet:263516/ntbt", source="Orphanet:263516"} @@ -289818,7 +289868,7 @@ id: MONDO:0012722 name: Dauwerse-Peters syndrome synonym: "Dauwerse-Peters syndrome" EXACT [OMIM:611733] synonym: "short stature, facial dysmorphism, severe brachydactyly and syndactyly" RELATED [GARD:0010568] -synonym: "short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly" RELATED [OMIM:611733] +synonym: "short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly" RELATED [] xref: MEDGEN:382037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567093 {source="MONDO:equivalentTo"} xref: OMIM:611733 {source="MONDO:equivalentTo"} @@ -289836,9 +289886,9 @@ subset: rare synonym: "amaurosis congenita of Leber, type 10" RELATED [GARD:0010487] synonym: "CEP290 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA10" EXACT ABBREVIATION [DOID:0110291, MONDO:Lexical, OMIM:611755] -synonym: "Leber congenital amaurosis 10" EXACT [MONDO:Lexical, OMIM:611755] +synonym: "Leber congenital amaurosis 10" EXACT [DOID:0110291, MONDO:Lexical, OMIM:611755] synonym: "Leber congenital amaurosis caused by mutation in CEP290" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 10" EXACT [DOID:0110291, MONDORULE:2, OMIM:611755] +synonym: "Leber congenital amaurosis type 10" EXACT [MONDORULE:2] xref: DOID:0110291 {source="MONDO:equivalentTo"} xref: GARD:10487 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110291"} @@ -289865,14 +289915,14 @@ subset: ordo_disorder {source="Orphanet:247868"} subset: orphanet_rare {source="Orphanet:247868"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial cold autoinflammatory syndrome 2" EXACT [MONDO:Lexical, OMIM:611762] +synonym: "familial cold autoinflammatory syndrome 2" EXACT [DOID:0090063, MONDO:Lexical, OMIM:611762] synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRP12" EXACT [MONDO:design_pattern] -synonym: "familial cold autoinflammatory syndrome type 2" EXACT [DOID:0090063, MONDORULE:1, OMIM:611762, Orphanet:247868] -synonym: "FCAS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611762, Orphanet:247868] +synonym: "familial cold autoinflammatory syndrome type 2" EXACT [MONDORULE:1, Orphanet:247868] +synonym: "FCAS2" EXACT ABBREVIATION [DOID:0090063, MONDO:Lexical, OMIM:611762, Orphanet:247868] synonym: "NALP12-associated hereditary periodic fever syndrome" EXACT [NCIT:C119043] synonym: "NAPS12" EXACT ABBREVIATION [Orphanet:247868] synonym: "NLRP12 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT [DOID:0090063] +synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT [DOID:0090063, NCIT:C119043, Orphanet:247868] xref: DOID:0090063 {source="MONDO:equivalentTo"} xref: GARD:17201 {source="MONDO:GARD"} xref: ICD10CM:E85.0 {source="DOID:0090063", source="Orphanet:247868", source="Orphanet:247868/attributed", source="Orphanet:247868/ntbt"} @@ -289899,7 +289949,7 @@ subset: ordo_disorder {source="Orphanet:329481"} subset: orphanet_rare {source="Orphanet:329481"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lipoprotein glomerulopathy" EXACT [MONDO:Lexical, OMIM:611771] +synonym: "lipoprotein glomerulopathy" EXACT [icd11.foundation:69778702, MONDO:Lexical, OMIM:611771, Orphanet:329481] synonym: "LPG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611771, Orphanet:329481] xref: GARD:17504 {source="MONDO:GARD"} xref: ICD10CM:N07.8 {source="Orphanet:329481/attributed", source="Orphanet:329481/ntbt", source="Orphanet:329481"} @@ -289959,16 +290009,16 @@ subset: orphanet_rare {source="Orphanet:2331"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute febrile MCLS" EXACT [DOID:13378] -synonym: "acute febrile mucocutaneous lymph node syndrome" EXACT [DOID:13378] -synonym: "acute febrile mucocutaneous lymph node syndrome [MCLS]" EXACT [DOID:13378, ICD9CM:446.1] -synonym: "infantile polyarteritis" RELATED [OMIM:611775] +synonym: "acute febrile mucocutaneous lymph node syndrome" EXACT [DOID:13378, icd11.foundation:540285662] +synonym: "acute febrile mucocutaneous lymph node syndrome [MCLS]" EXACT [ICD9CM:446.1] +synonym: "infantile polyarteritis" RELATED [] synonym: "infantile polyarteritis nodosa" EXACT [NCIT:C34825] -synonym: "Kawasaki disease" RELATED [OMIM:611775] +synonym: "Kawasaki disease" RELATED [] synonym: "Kawasaki syndrome" RELATED [GARD:0006816] synonym: "Kawasaki's disease" EXACT [DOID:13378] -synonym: "Kd" RELATED [OMIM:611775] +synonym: "Kd" RELATED [] synonym: "MLNS" EXACT ABBREVIATION [DOID:13378] -synonym: "mucocutaneous lymph node syndrome" EXACT [DOID:13378, OMIM:611775, Orphanet:2331] +synonym: "mucocutaneous lymph node syndrome" EXACT [DOID:13378, icd11.foundation:540285662, NCIT:C34825, OMIM:611775, Orphanet:2331] xref: DOID:13378 {source="EFO:0004246", source="MONDO:equivalentTo"} xref: EFO:0004246 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6816 {source="MONDO:GARD"} @@ -289997,9 +290047,9 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:15526", source="MONDO:GARD"} subset: rare synonym: "BRGDA2" EXACT ABBREVIATION [DOID:0110219, MONDO:Lexical, OMIM:611777] -synonym: "Brugada syndrome 2" EXACT [MONDO:Lexical, OMIM:611777] +synonym: "Brugada syndrome 2" EXACT [DOID:0110219, MONDO:Lexical, OMIM:611777] synonym: "Brugada syndrome caused by mutation in GPD1L" EXACT [MONDO:design_pattern] -synonym: "Brugada syndrome type 2" EXACT [DOID:0110219, MONDORULE:1, OMIM:611777] +synonym: "Brugada syndrome type 2" EXACT [MONDORULE:1] synonym: "GPD1L Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110219 {source="MONDO:equivalentTo"} xref: GARD:15526 {source="MONDO:GARD"} @@ -290021,10 +290071,10 @@ def: "Any familial polycythemia in which the cause of the disease is a mutation subset: gard_rare {source="GARD:18356", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECYT4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611783] +synonym: "ECYT4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "EPAS1 familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "erythrocytosis, familial, 4" EXACT [MONDO:Lexical, OMIM:611783] -synonym: "erythrocytosis, familial, type 4" EXACT [MONDORULE:1, OMIM:611783] +synonym: "erythrocytosis, familial, type 4" EXACT [MONDORULE:1] synonym: "familial polycythemia caused by mutation in EPAS1" EXACT [MONDO:design_pattern] xref: DOID:0080339 {source="MONDO:equivalentTo"} xref: GARD:18356 {source="MONDO:GARD"} @@ -290045,12 +290095,12 @@ def: "Any familial thoracic aortic aneurysm and aortic dissection in which the c subset: gard_rare {source="GARD:15527", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AAT6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611788] +synonym: "AAT6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ACTA2 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "aortic aneurysm, familial thoracic 6" EXACT [MONDO:Lexical, OMIM:611788] -synonym: "aortic aneurysm, familial thoracic type 6" EXACT [MONDORULE:1, OMIM:611788] +synonym: "aortic aneurysm, familial thoracic type 6" EXACT [MONDORULE:1] synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2" EXACT [MONDO:design_pattern] -synonym: "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi" RELATED [OMIM:611788] +synonym: "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi" RELATED [] xref: GARD:15527 {source="MONDO:GARD"} xref: MEDGEN:435866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567085 {source="MONDO:equivalentTo"} @@ -290069,16 +290119,16 @@ def: "Any hereditary elliptocytosis in which the cause of the disease is a mutat subset: gard_rare {source="GARD:15528", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "4.1- trait" RELATED [OMIM:611804] -synonym: "4.1-minus trait" RELATED [OMIM:611804] -synonym: "EL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611804] +synonym: "4.1- trait" RELATED [] +synonym: "4.1-minus trait" RELATED [] +synonym: "EL1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "elliptocytosis 1" EXACT [MONDO:Lexical, OMIM:611804] -synonym: "elliptocytosis type 1" EXACT [MONDORULE:1, OMIM:611804] -synonym: "elliptocytosis, Rhesus-linked type" RELATED [OMIM:611804] -synonym: "elliptocytosis-1" EXACT [OMIM:611804, OMIM:genemap2] +synonym: "elliptocytosis type 1" EXACT [MONDORULE:1] +synonym: "elliptocytosis, Rhesus-linked type" RELATED [] +synonym: "elliptocytosis-1" EXACT [] synonym: "EPB41 hereditary elliptocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary elliptocytosis caused by mutation in EPB41" EXACT [MONDO:design_pattern] -synonym: "Protein 4.1 of erythrocyte Membrane, defect of" RELATED [OMIM:611804] +synonym: "Protein 4.1 of erythrocyte Membrane, defect of" RELATED [] xref: GARD:15528 {source="MONDO:GARD"} xref: MEDGEN:394841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567520 {source="MONDO:equivalentTo"} @@ -290094,7 +290144,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012732 name: tremor, hereditary essential, and idiopathic normal pressure hydrocephalus -synonym: "ETINPH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611808] +synonym: "ETINPH" RELATED ABBREVIATION [MONDO:Lexical] synonym: "tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" EXACT [MONDO:Lexical, OMIM:611808] xref: MEDGEN:394839 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567519 {source="MONDO:equivalentTo"} @@ -290113,9 +290163,9 @@ subset: ordo_disorder {source="Orphanet:139455"} subset: orphanet_rare {source="Orphanet:139455"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ARB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611809] +synonym: "ARB" RELATED ABBREVIATION [MONDO:Lexical] synonym: "bestrophinopathy" EXACT [DOID:0050662] -synonym: "bestrophinopathy, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611809] +synonym: "bestrophinopathy, autosomal recessive" RELATED [MONDO:Lexical] synonym: "retinopathy, Burgess-Black type" EXACT [Orphanet:139455] xref: DOID:0050662 {source="MONDO:equivalentTo"} xref: GARD:10301 {source="MONDO:GARD"} @@ -290145,9 +290195,9 @@ subset: orphanet_rare {source="Orphanet:139466"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs" EXACT [NCIT:C123726] -synonym: "46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs" RELATED [MONDO:Lexical, OMIM:611812] -synonym: "SERKAL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611812] -synonym: "SERKAL syndrome" EXACT [OMIM:611812] +synonym: "46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs" RELATED [MONDO:Lexical] +synonym: "SERKAL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "SERKAL syndrome" EXACT [NCIT:C123726, OMIM:611812, Orphanet:139466] synonym: "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" EXACT [Orphanet:139466] xref: GARD:10302 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:139466/attributed", source="Orphanet:139466/ntbt", source="Orphanet:139466"} @@ -290170,12 +290220,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:420561"} subset: orphanet_rare {source="Orphanet:420561"} subset: rare -synonym: "intellectual disability, severe, and absent nails of hallux and pollex" RELATED [OMIM:611816] -synonym: "mental retardation, severe, and absent nails of hallux and pollex" RELATED DEPRECATED [OMIM:611816] +synonym: "intellectual disability, severe, and absent nails of hallux and pollex" RELATED [] +synonym: "mental retardation, severe, and absent nails of hallux and pollex" RELATED DEPRECATED [] synonym: "severe intellectual disability and absent nails of hallux and pollex" RELATED [GARD:0009441] synonym: "severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome" EXACT [Orphanet:420561] synonym: "severe mental retardation and absent nails of hallux and pollex" RELATED DEPRECATED [GARD:0009441] -synonym: "Temple-Baraitser syndrome" EXACT [MONDO:Lexical, OMIM:611816] +synonym: "Temple-Baraitser syndrome" EXACT [MONDO:Lexical, OMIM:611816, Orphanet:420561] synonym: "TMBTS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611816, Orphanet:420561] xref: GARD:9441 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:420561", source="Orphanet:420561/attributed", source="Orphanet:420561/ntbt"} @@ -290198,11 +290248,11 @@ def: "Any long QT syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:10435", source="MONDO:GARD"} subset: rare synonym: "CAV3 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "long QT syndrome 2/9, digenic" RELATED [OMIM:611818] -synonym: "long QT syndrome 9" EXACT [MONDO:Lexical, OMIM:611818] -synonym: "long QT syndrome 9, acquired, susceptibility to" RELATED [OMIM:611818] +synonym: "long QT syndrome 2/9, digenic" RELATED [] +synonym: "long QT syndrome 9" EXACT [DOID:0110650, MONDO:Lexical, OMIM:611818] +synonym: "long QT syndrome 9, acquired, susceptibility to" RELATED [] synonym: "long QT syndrome caused by mutation in CAV3" EXACT [MONDO:design_pattern] -synonym: "long QT syndrome type 9" EXACT [DOID:0110650, MONDORULE:1, OMIM:611818] +synonym: "long QT syndrome type 9" EXACT [MONDORULE:1] synonym: "LQT9" EXACT ABBREVIATION [DOID:0110650, MONDO:Lexical, OMIM:611818] xref: DOID:0110650 {source="MONDO:equivalentTo"} xref: GARD:10435 {source="MONDO:GARD"} @@ -290227,10 +290277,10 @@ def: "Any long QT syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:10436", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atrial fibrillation, familial, 17" RELATED [OMIM:611819] -synonym: "long QT syndrome 10" EXACT [MONDO:Lexical, OMIM:611819] +synonym: "atrial fibrillation, familial, 17" RELATED [] +synonym: "long QT syndrome 10" EXACT [DOID:0110651, MONDO:Lexical, OMIM:611819] synonym: "long QT syndrome caused by mutation in SCN4B" EXACT [MONDO:design_pattern] -synonym: "long QT syndrome type 10" EXACT [DOID:0110651, MONDORULE:2, OMIM:611819] +synonym: "long QT syndrome type 10" EXACT [MONDORULE:2] synonym: "LQT10" EXACT ABBREVIATION [DOID:0110651, MONDO:Lexical, OMIM:611819] synonym: "SCN4B long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110651 {source="MONDO:equivalentTo"} @@ -290258,9 +290308,9 @@ subset: gard_rare {source="GARD:10437", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AKAP9 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "long QT syndrome 11" EXACT [MONDO:Lexical, OMIM:611820] +synonym: "long QT syndrome 11" EXACT [DOID:0110652, MONDO:Lexical, OMIM:611820] synonym: "long QT syndrome caused by mutation in AKAP9" EXACT [MONDO:design_pattern] -synonym: "long QT syndrome type 11" EXACT [DOID:0110652, MONDORULE:2, OMIM:611820] +synonym: "long QT syndrome type 11" EXACT [MONDORULE:2] synonym: "LQT11" EXACT ABBREVIATION [DOID:0110652, MONDO:Lexical, OMIM:611820] xref: DOID:0110652 {source="MONDO:equivalentTo"} xref: GARD:10437 {source="MONDO:GARD"} @@ -290291,7 +290341,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Balikova-Vermeesch syndrome" EXACT [Orphanet:139450] synonym: "microtia eye coloboma and imperforation of the nasolacrimal duct" RELATED [GARD:0010300] -synonym: "microtia with nasolacrimal duct imperforation and eye coloboma" RELATED [OMIM:611863] +synonym: "microtia with nasolacrimal duct imperforation and eye coloboma" RELATED [] xref: GARD:10300 {source="MONDO:GARD"} xref: ICD10CM:Q15.8 {source="Orphanet:139450/attributed", source="Orphanet:139450/ntbt", source="Orphanet:139450"} xref: MEDGEN:394835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -290315,9 +290365,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:261330"} subset: orphanet_rare {source="Orphanet:261330"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 22q11.2 deletion syndrome, distal" EXACT [OMIM:611867] -synonym: "distal 22q11.2 microdeletion syndrome" EXACT [DOID:0060413] -synonym: "distal chromosome 22Q11.2 deletion syndrome" RELATED [OMIM:611867] +synonym: "chromosome 22q11.2 deletion syndrome, distal" EXACT [DOID:0060413, OMIM:611867] +synonym: "distal 22q11.2 microdeletion syndrome" EXACT [DOID:0060413, Orphanet:261330] +synonym: "distal chromosome 22Q11.2 deletion syndrome" RELATED [] synonym: "distal del(22)(q11.2)" EXACT [Orphanet:261330] synonym: "distal monosomy 22q11.2" EXACT [Orphanet:261330] xref: DECIPHER:72 {source="MONDO:equivalentTo"} @@ -290344,9 +290394,9 @@ subset: gard_rare {source="GARD:15529", source="MONDO:GARD"} subset: rare synonym: "EHBP1 familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial prostate cancer caused by mutation in EHBP1" EXACT [MONDO:design_pattern] -synonym: "HPC12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611868] +synonym: "HPC12" RELATED ABBREVIATION [MONDO:Lexical] synonym: "prostate cancer, hereditary, 12" EXACT [MONDO:Lexical, OMIM:611868] -synonym: "prostate cancer, hereditary, type 12" EXACT [MONDORULE:2, OMIM:611868] +synonym: "prostate cancer, hereditary, type 12" EXACT [MONDORULE:2] xref: GARD:15529 {source="MONDO:GARD"} xref: MEDGEN:437216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567510 {source="MONDO:equivalentTo"} @@ -290365,9 +290415,9 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:10361", source="MONDO:GARD"} subset: rare synonym: "BRGDA3" EXACT ABBREVIATION [DOID:0110220, MONDO:Lexical, OMIM:611875] -synonym: "Brugada syndrome 3" EXACT [MONDO:Lexical, OMIM:611875] +synonym: "Brugada syndrome 3" EXACT [DOID:0110220, MONDO:Lexical, OMIM:611875] synonym: "Brugada syndrome caused by mutation in CACNA1C" EXACT [MONDO:design_pattern] -synonym: "Brugada syndrome type 3" EXACT [DOID:0110220, MONDORULE:1, OMIM:611875] +synonym: "Brugada syndrome type 3" EXACT [MONDORULE:1] synonym: "CACNA1C Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110220 {source="MONDO:equivalentTo"} xref: GARD:10361 {source="MONDO:GARD"} @@ -290390,9 +290440,9 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:10362", source="MONDO:GARD"} subset: rare synonym: "BRGDA4" EXACT ABBREVIATION [DOID:0110221, MONDO:Lexical, OMIM:611876] -synonym: "Brugada syndrome 4" EXACT [MONDO:Lexical, OMIM:611876] +synonym: "Brugada syndrome 4" EXACT [DOID:0110221, MONDO:Lexical, OMIM:611876] synonym: "Brugada syndrome caused by mutation in CACNB2" EXACT [MONDO:design_pattern] -synonym: "Brugada syndrome type 4" EXACT [DOID:0110221, MONDORULE:1, OMIM:611876] +synonym: "Brugada syndrome type 4" EXACT [MONDORULE:1] synonym: "CACNB2 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110221 {source="MONDO:equivalentTo"} xref: GARD:10362 {source="MONDO:GARD"} @@ -290415,12 +290465,12 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15530", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1Y" RELATED [MONDO:Lexical, OMIM:611878] -synonym: "cardiomyopathy, dilated, type 1Y" EXACT [MONDORULE:4, OMIM:611878] +synonym: "cardiomyopathy, dilated, 1Y" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Y" EXACT [MONDORULE:4] synonym: "CMD1Y" EXACT ABBREVIATION [DOID:0110457, MONDO:Lexical, OMIM:611878] -synonym: "dilated cardiomyopathy type 1Y" EXACT [DOID:0110457, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1Y" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in TPM1" EXACT [MONDO:design_pattern] -synonym: "left ventricular noncompaction 9" RELATED [OMIM:611878] +synonym: "left ventricular noncompaction 9" RELATED [] synonym: "TPM1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110457 {source="MONDO:equivalentTo"} xref: GARD:15530 {source="MONDO:GARD"} @@ -290440,10 +290490,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15531", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1Z" RELATED [MONDO:Lexical, OMIM:611879] -synonym: "cardiomyopathy, dilated, type 1Z" EXACT [MONDORULE:4, OMIM:611879] +synonym: "cardiomyopathy, dilated, 1Z" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Z" EXACT [MONDORULE:4] synonym: "CMD1Z" EXACT ABBREVIATION [DOID:0110434, MONDO:Lexical, OMIM:611879] -synonym: "dilated cardiomyopathy type 1Z" EXACT [DOID:0110434, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1Z" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in TNNC1" EXACT [MONDO:design_pattern] synonym: "TNNC1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110434 {source="MONDO:equivalentTo"} @@ -290464,12 +290514,12 @@ def: "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 subset: gard_rare {source="GARD:15532", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, congestive, autosomal recessive" RELATED [OMIM:611880] -synonym: "cardiomyopathy, dilated, 2A" RELATED [MONDO:Lexical, OMIM:611880] -synonym: "cardiomyopathy, dilated, autosomal recessive" RELATED [OMIM:611880] -synonym: "cardiomyopathy, dilated, type 2A" EXACT [MONDORULE:4, OMIM:611880] +synonym: "cardiomyopathy, congestive, autosomal recessive" RELATED [] +synonym: "cardiomyopathy, dilated, 2A" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, autosomal recessive" RELATED [] +synonym: "cardiomyopathy, dilated, type 2A" EXACT [MONDORULE:4] synonym: "CMD2A" EXACT ABBREVIATION [DOID:0110460, MONDO:Lexical, OMIM:611880] -synonym: "dilated cardiomyopathy type 2A" EXACT [DOID:0110460, MONDORULE:4] +synonym: "dilated cardiomyopathy type 2A" EXACT [MONDORULE:4] xref: DOID:0110460 {source="MONDO:equivalentTo"} xref: GARD:15532 {source="MONDO:GARD"} xref: ICD10CM:I42.0 {source="DOID:0110460"} @@ -290489,24 +290539,24 @@ subset: ordo_disorder {source="Orphanet:57"} subset: orphanet_rare {source="Orphanet:57"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Aldoa deficiency" RELATED [OMIM:611881] -synonym: "aldolase a deficiency" RELATED [OMIM:611881] +synonym: "Aldoa deficiency" RELATED [] +synonym: "aldolase a deficiency" RELATED [] synonym: "aldolase deficiency red cell" RELATED [GARD:0000600] -synonym: "aldolase deficiency, Red cell" RELATED [OMIM:611881] -synonym: "glycogen storage disease 12" RELATED [GARD:0000600, OMIM:611881] -synonym: "glycogen storage disease due to aldolase A deficiency" EXACT CLINGEN_LABEL [] -synonym: "glycogen storage disease type 12" EXACT [MONDORULE:2, OMIM:611881, Orphanet:57] +synonym: "aldolase deficiency, Red cell" RELATED [] +synonym: "glycogen storage disease 12" RELATED [GARD:0000600] +synonym: "glycogen storage disease due to aldolase A deficiency" EXACT CLINGEN_LABEL [icd11.foundation:1020924235, Orphanet:57] +synonym: "glycogen storage disease type 12" EXACT [icd11.foundation:1020924235, MONDORULE:2, Orphanet:57] synonym: "glycogen storage disease type XII" EXACT [Orphanet:57] -synonym: "glycogen storage disease XII" RELATED [MONDO:Lexical, OMIM:611881] +synonym: "glycogen storage disease XII" RELATED [MONDO:Lexical] synonym: "glycogenosis due to aldolase A deficiency" EXACT [Orphanet:57] -synonym: "glycogenosis type 12" EXACT [Orphanet:57] +synonym: "glycogenosis type 12" EXACT [icd11.foundation:1020924235, Orphanet:57] synonym: "glycogenosis type XII" EXACT [Orphanet:57] -synonym: "GSD 12" RELATED [OMIM:611881] +synonym: "GSD 12" RELATED [] synonym: "GSD due to aldolase A deficiency" EXACT [Orphanet:57] -synonym: "GSD type 12" EXACT [Orphanet:57] +synonym: "GSD type 12" EXACT [icd11.foundation:1020924235, Orphanet:57] synonym: "GSD type XII" EXACT [Orphanet:57] -synonym: "GSD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611881] -synonym: "Red cell aldolase deficiency" RELATED [OMIM:611881] +synonym: "GSD12" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Red cell aldolase deficiency" RELATED [] xref: GARD:600 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:57/attributed", source="Orphanet:57/ntbt", source="Orphanet:57"} xref: icd11.foundation:1020924235 {source="MONDO:equivalentTo"} @@ -290534,14 +290584,14 @@ subset: gard_rare {source="GARD:15533", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD7" EXACT ABBREVIATION [DOID:0110605, MONDO:Lexical, OMIM:611884] -synonym: "ciliary dyskinesia, primary, 7" RELATED [MONDO:Lexical, OMIM:611884] -synonym: "ciliary dyskinesia, primary, 7, with or without situs inversus" RELATED [OMIM:611884] -synonym: "ciliary dyskinesia, primary, type 7" EXACT [MONDORULE:1, OMIM:611884] +synonym: "ciliary dyskinesia, primary, 7" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 7, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 7" EXACT [MONDORULE:1] synonym: "DNAH11 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "primary ciliary dyskinesia 7" EXACT CLINGEN_LABEL [] +synonym: "primary ciliary dyskinesia 7" EXACT CLINGEN_LABEL [DOID:0110605] synonym: "primary ciliary dyskinesia 7 with or without situs inversus" EXACT [DOID:0110605] synonym: "primary ciliary dyskinesia caused by mutation in DNAH11" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 7" EXACT [DOID:0110605, MONDORULE:1] +synonym: "primary ciliary dyskinesia type 7" EXACT [MONDORULE:1] xref: DOID:0110605 {source="MONDO:equivalentTo"} xref: GARD:15533 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110605"} @@ -290575,9 +290625,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:53696"} subset: orphanet_rare {source="Orphanet:53696"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital arthrogryposis with anterior horn cell disease" EXACT [OMIM:611890, OMIM:genemap2] -synonym: "LAAHD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611890, Orphanet:53696] -synonym: "lethal arthrogryposis with anterior horn cell disease" RELATED [MONDO:Lexical, OMIM:611890] +synonym: "congenital arthrogryposis with anterior horn cell disease" EXACT [OMIM:611890] +synonym: "LAAHD" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "lethal arthrogryposis with anterior horn cell disease" RELATED [MONDO:Lexical] synonym: "Vuopala disease" EXACT [Orphanet:53696] xref: GARD:16658 {source="MONDO:GARD"} xref: MEDGEN:1677784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -290597,7 +290647,7 @@ subset: gard_rare {source="GARD:16493", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AAA3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611891] -synonym: "aneurysm, familial abdominal 3" EXACT [OMIM:611891, OMIM:genemap2] +synonym: "aneurysm, familial abdominal 3" EXACT [] synonym: "aortic aneurysm, familial abdominal, 3" EXACT [MONDO:Lexical, OMIM:611891] xref: GARD:16493 {source="MONDO:GARD"} xref: MEDGEN:394525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -290614,7 +290664,7 @@ name: aneurysm, intracranial berry, 6 subset: gard_rare {source="GARD:18324", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, intracranial BERRY, 6" RELATED [MONDO:Lexical, OMIM:611892] +synonym: "aneurysm, intracranial BERRY, 6" RELATED [MONDO:Lexical] synonym: "ANIB6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611892] xref: DOID:0080969 {source="MONDO:equivalentTo"} xref: GARD:18324 {source="MONDO:GARD"} @@ -290635,7 +290685,7 @@ subset: rare synonym: "ALS9" EXACT ABBREVIATION [DOID:0060200, MONDO:Lexical, OMIM:611895] synonym: "amyotrophic lateral sclerosis 9" EXACT [DOID:0060200, MONDO:Lexical, OMIM:611895] synonym: "amyotrophic lateral sclerosis caused by mutation in ANG" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis type 9" EXACT [MONDORULE:1, OMIM:611895] +synonym: "amyotrophic lateral sclerosis type 9" EXACT [DOID:0060200, MONDORULE:1] synonym: "ANG amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060200 {source="MONDO:equivalentTo"} xref: GARD:10498 {source="MONDO:GARD"} @@ -290657,7 +290707,7 @@ name: nanophthalmos 3 subset: gard_rare {source="GARD:18627", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Nanophthalmia 3" RELATED [OMIM:611897] +synonym: "Nanophthalmia 3" RELATED [] synonym: "nanophthalmos 3" EXACT [MONDO:Lexical, OMIM:611897] synonym: "NNO3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611897] xref: GARD:18627 {source="MONDO:GARD"} @@ -290679,8 +290729,8 @@ subset: ordo_disorder {source="Orphanet:209970"} subset: orphanet_rare {source="Orphanet:209970"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611907] -synonym: "episodic ataxia, type 7" RELATED [MONDO:Lexical, OMIM:611907] +synonym: "EA7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "episodic ataxia, type 7" RELATED [MONDO:Lexical] xref: DOID:0050995 {source="MONDO:equivalentTo"} xref: GARD:17108 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:209970", source="Orphanet:209970/attributed", source="Orphanet:209970/ntbt"} @@ -290706,11 +290756,11 @@ subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare synonym: "16p11.2 deletion syndrome" RELATED [GARD:0010740] -synonym: "autism susceptibility 14A" EXACT [OMIM:611913, OMIM:genemap2] -synonym: "autism, susceptibility to, 14A" RELATED [OMIM:611913] +synonym: "autism susceptibility 14A" EXACT [] +synonym: "autism, susceptibility to, 14A" RELATED [] synonym: "chromosome 16p11.2 deletion syndrome" RELATED [GARD:0010740] -synonym: "chromosome 16p11.2 deletion syndrome, 593-KB" RELATED [OMIM:611913] -synonym: "chromosome 16p11.2 deletion syndrome, 593kb" EXACT [OMIM:611913, OMIM:genemap2] +synonym: "chromosome 16p11.2 deletion syndrome, 593-KB" RELATED [] +synonym: "chromosome 16p11.2 deletion syndrome, 593kb" EXACT [] synonym: "Del(16)(p11.2)" RELATED [GARD:0010740] synonym: "microdeletion 16p11.2" RELATED [GARD:0010740] synonym: "monosomy 16p11.2" RELATED [GARD:0010740] @@ -290748,7 +290798,7 @@ subset: ordo_disorder {source="Orphanet:137631"} subset: orphanet_rare {source="Orphanet:137631"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" RELATED [OMIM:611926] +synonym: "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis" RELATED [] xref: GARD:16947 {source="MONDO:GARD"} xref: ICD10CM:D82.8 {source="Orphanet:137631", source="Orphanet:137631/attributed", source="Orphanet:137631/ntbt"} xref: MEDGEN:461506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -290767,10 +290817,10 @@ def: "Any familial prostate cancer in which the cause of the disease is a mutati subset: gard_rare {source="GARD:15534", source="MONDO:GARD"} subset: rare synonym: "familial prostate cancer caused by mutation in MSMB" EXACT [MONDO:design_pattern] -synonym: "HPC13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611928] +synonym: "HPC13" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MSMB familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "prostate cancer, hereditary, 13" EXACT [MONDO:Lexical, OMIM:611928] -synonym: "prostate cancer, hereditary, type 13" EXACT [MONDORULE:2, OMIM:611928] +synonym: "prostate cancer, hereditary, type 13" EXACT [MONDORULE:2] xref: GARD:15534 {source="MONDO:GARD"} xref: MEDGEN:383198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567456 {source="MONDO:equivalentTo"} @@ -290793,8 +290843,8 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:488434"} subset: rare synonym: "camptodactyly syndrome Guadalajara type 3" RELATED [GARD:0010573] -synonym: "camptodactyly syndrome, Guadalajara, type 3" RELATED [OMIM:611929] -synonym: "camptodactyly syndrome, Guadalajara, type III" RELATED [OMIM:611929] +synonym: "camptodactyly syndrome, Guadalajara, type 3" RELATED [] +synonym: "camptodactyly syndrome, Guadalajara, type III" RELATED [] xref: GARD:10573 {source="MONDO:GARD"} xref: MEDGEN:394371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567455 {source="MONDO:equivalentTo"} @@ -290812,9 +290862,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10573/campto id: MONDO:0012760 name: epilepsy, idiopathic generalized, susceptibility to, 5 subset: predisposition -synonym: "EIG5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611934] +synonym: "EIG5" EXACT ABBREVIATION [DOID:0111320, MONDO:Lexical, OMIM:611934] synonym: "epilepsy, idiopathic generalized, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:611934] -synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [OMIM:611934] +synonym: "epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10" RELATED [] xref: DOID:0111320 {source="MONDO:equivalentTo"} xref: MEDGEN:393842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611934 {source="MONDO:equivalentTo"} @@ -290837,8 +290887,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "3q29 microduplication" EXACT [DOID:0060459] synonym: "3q29 microduplication syndrome" EXACT [DECIPHER:77, Orphanet:251038] -synonym: "chromosome 3q29 DUPLICATION syndrome" RELATED [OMIM:611936] -synonym: "microduplication 3Q29 syndrome" RELATED [OMIM:611936] +synonym: "chromosome 3q29 DUPLICATION syndrome" RELATED [] +synonym: "microduplication 3Q29 syndrome" RELATED [] synonym: "trisomy 3q29" EXACT [DOID:0060459, Orphanet:251038] xref: DECIPHER:77 {source="MONDO:equivalentTo"} xref: DOID:0060459 {source="MONDO:equivalentTo"} @@ -290863,14 +290913,14 @@ def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cau subset: gard_rare {source="GARD:15535", source="MONDO:GARD"} subset: rare synonym: "CASQ2 catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "catecholaminergic polymorphic ventricular tachycardia 2" EXACT CLINGEN_LABEL [] +synonym: "catecholaminergic polymorphic ventricular tachycardia 2" EXACT CLINGEN_LABEL [DOID:0060676] synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2" EXACT [MONDO:design_pattern] -synonym: "catecholaminergic polymorphic ventricular tachycardia type 2" EXACT [DOID:0060676, MONDORULE:1] -synonym: "CPVT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611938] +synonym: "catecholaminergic polymorphic ventricular tachycardia type 2" EXACT [MONDORULE:1, NCIT:C148368] +synonym: "CPVT2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CVPT2" EXACT ABBREVIATION [DOID:0060676] -synonym: "ventricular tachycardia, catecholaminergic polymorphic, 2" RELATED [MONDO:Lexical, OMIM:611938] -synonym: "ventricular tachycardia, catecholaminergic polymorphic, type 2" EXACT [MONDORULE:1, OMIM:611938] -synonym: "ventricular tachycardia, stress-induced polymorphic" RELATED [OMIM:611938] +synonym: "ventricular tachycardia, catecholaminergic polymorphic, 2" RELATED [MONDO:Lexical] +synonym: "ventricular tachycardia, catecholaminergic polymorphic, type 2" EXACT [MONDORULE:1] +synonym: "ventricular tachycardia, stress-induced polymorphic" RELATED [] xref: DOID:0060676 {source="MONDO:equivalentTo"} xref: GARD:15535 {source="MONDO:GARD"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060676"} @@ -290893,9 +290943,9 @@ synonym: "CACNA1H childhood absence epilepsy" RELATED [MONDO:design_pattern, MON synonym: "childhood absence epilepsy caused by mutation in CACNA1H" RELATED [MONDO:design_pattern] synonym: "ECA6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611942] synonym: "epilepsy, childhood absence, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:611942] -synonym: "epilepsy, childhood absence, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:611942] -synonym: "epilepsy, idiopathic generalized, susceptibility to, 6" RELATED [OMIM:611942] -synonym: "susceptibility to childhood absence epilepsy 6" EXACT [OMIM:611942] +synonym: "epilepsy, childhood absence, susceptibility to, type 6" EXACT [MONDORULE:1] +synonym: "epilepsy, idiopathic generalized, susceptibility to, 6" RELATED [] +synonym: "susceptibility to childhood absence epilepsy 6" EXACT [] xref: MEDGEN:440896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611942 {source="MONDO:equivalentTo"} xref: Orphanet:64280 {source="OMIM:611942"} @@ -290916,9 +290966,9 @@ subset: ordo_disorder {source="Orphanet:420741"} subset: ordo_malformation_syndrome {source="Orphanet:420741"} subset: orphanet_rare {source="Orphanet:420741"} subset: rare -synonym: "radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties" RELATED [OMIM:611943] +synonym: "radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties" RELATED [] synonym: "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" EXACT [DOID:0090113, Orphanet:420741] -synonym: "RIDDLE syndrome" EXACT CLINGEN_LABEL [OMIM:611943] +synonym: "RIDDLE syndrome" EXACT CLINGEN_LABEL [DOID:0090113, OMIM:611943, Orphanet:420741] synonym: "RNF168 deficiency" EXACT [DOID:0090113, Orphanet:420741] xref: DOID:0090113 {source="MONDO:equivalentTo"} xref: GARD:17701 {source="MONDO:GARD"} @@ -290940,8 +290990,8 @@ name: lymphatic malformation 2 subset: gard_rare {source="GARD:16453", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "LMPH1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:611944] -synonym: "lymphedema, hereditary, 1B" EXACT [MONDO:Lexical, OMIM:611944] +synonym: "LMPH1B" EXACT ABBREVIATION [DOID:0070211, MONDO:Lexical] +synonym: "lymphedema, hereditary, 1B" EXACT [MONDO:Lexical] xref: DOID:0070211 {source="MONDO:equivalentTo"} xref: GARD:16453 {source="MONDO:GARD"} xref: MEDGEN:1648459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -290962,9 +291012,9 @@ subset: orphanet_rare {source="Orphanet:171612"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 37" EXACT [DOID:0110788] -synonym: "autosomal dominant spastic paraplegia type 37" EXACT [DOID:0110788] -synonym: "hereditary spastic paraplegia type 37" EXACT [DOID:0110788, MONDORULE:2] -synonym: "spastic paraplegia 37, autosomal dominant" RELATED [MONDO:Lexical, OMIM:611945] +synonym: "autosomal dominant spastic paraplegia type 37" EXACT [DOID:0110788, Orphanet:171612] +synonym: "hereditary spastic paraplegia type 37" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 37, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG37" EXACT ABBREVIATION [DOID:0110788, MONDO:Lexical, OMIM:611945, Orphanet:171612] xref: DOID:0110788 {source="MONDO:equivalentTo"} xref: GARD:17064 {source="MONDO:GARD"} @@ -290986,12 +291036,12 @@ def: "Any age-related macular degeneration in which the cause of the disease is subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "age related macular degeneration type 11" EXACT [DOID:0110023, MONDORULE:2] +synonym: "age related macular degeneration type 11" EXACT [MONDORULE:2] synonym: "age-related macular degeneration caused by mutation in CST3" EXACT [MONDO:design_pattern] synonym: "ARMD11" EXACT ABBREVIATION [DOID:0110023, MONDO:Lexical, OMIM:611953] synonym: "CST3 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "macular degeneration, age-related, 11" RELATED [MONDO:Lexical, OMIM:611953] -synonym: "macular Degeneration, age-related, type 11" EXACT [MONDORULE:2, OMIM:611953] +synonym: "macular degeneration, age-related, 11" RELATED [MONDO:Lexical] +synonym: "macular Degeneration, age-related, type 11" EXACT [MONDORULE:2] xref: DOID:0110023 {source="MONDO:equivalentTo"} xref: MEDGEN:393833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567450 {source="MONDO:equivalentTo"} @@ -291055,10 +291105,10 @@ id: MONDO:0012771 name: asthma-related traits, susceptibility to, 7 def: "Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "ASRT7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:611960] -synonym: "asthma-RELATED traits, susceptibility to, 7" RELATED [OMIM:611960] +synonym: "ASRT7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "asthma-RELATED traits, susceptibility to, 7" RELATED [] synonym: "asthma-related traits, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:611960] -synonym: "asthma-related traits, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:611960] +synonym: "asthma-related traits, susceptibility to, type 7" EXACT [MONDORULE:1] synonym: "CHI3L1 inherited susceptibility to asthma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "inherited susceptibility to asthma caused by mutation in CHI3L1" EXACT [MONDO:design_pattern] xref: MEDGEN:394362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -291101,9 +291151,9 @@ subset: orphanet_rare {source="Orphanet:199318"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "15q13.3 microdeletion" RELATED [GARD:0010296] -synonym: "15q13.3 microdeletion syndrome" EXACT [DOID:0060394] -synonym: "chromosome 15q13.3 deletion syndrome" RELATED [OMIM:612001] -synonym: "chromosome 15q13.3 microdeletion syndrome" EXACT [OMIM:612001] +synonym: "15q13.3 microdeletion syndrome" EXACT [DOID:0060394, Orphanet:199318] +synonym: "chromosome 15q13.3 deletion syndrome" RELATED [] +synonym: "chromosome 15q13.3 microdeletion syndrome" EXACT [DOID:0060394, OMIM:612001] synonym: "Del(15)(q13.3)" EXACT [Orphanet:199318] synonym: "microdeletion 15q13.3 syndrome" RELATED [GARD:0010296] synonym: "monosomy 15q13.3" EXACT [Orphanet:199318] @@ -291137,11 +291187,11 @@ subset: gard_rare {source="GARD:18289", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CYCS thrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "THC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612004] +synonym: "THC4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "thrombocytopenia 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612004] synonym: "thrombocytopenia caused by mutation in CYCS" EXACT [MONDO:design_pattern] -synonym: "thrombocytopenia type 4" EXACT [MONDORULE:1, OMIM:612004] -synonym: "thrombocytopenia, autosomal dominant, 4" RELATED [OMIM:612004] +synonym: "thrombocytopenia type 4" EXACT [MONDORULE:1] +synonym: "thrombocytopenia, autosomal dominant, 4" RELATED [] xref: GARD:18289 {source="MONDO:GARD"} xref: MEDGEN:394329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567438 {source="MONDO:equivalentTo"} @@ -291161,7 +291211,7 @@ name: celiac disease, susceptibility to, 7 subset: predisposition synonym: "celiac disease, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:612005] synonym: "CELIAC7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612005] -synonym: "gluten-sensitive enteropathy, susceptibility to, 7" RELATED [OMIM:612005] +synonym: "gluten-sensitive enteropathy, susceptibility to, 7" RELATED [] xref: MEDGEN:394328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612005 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:612005"} @@ -291177,7 +291227,7 @@ name: celiac disease, susceptibility to, 8 subset: predisposition synonym: "celiac disease, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:612006] synonym: "CELIAC8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612006] -synonym: "gluten-sensitive enteropathy, susceptibility to, 8" RELATED [OMIM:612006] +synonym: "gluten-sensitive enteropathy, susceptibility to, 8" RELATED [] xref: MEDGEN:394327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612006 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:612006"} @@ -291193,7 +291243,7 @@ name: celiac disease, susceptibility to, 9 subset: predisposition synonym: "celiac disease, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:612007] synonym: "CELIAC9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612007] -synonym: "gluten-sensitive enteropathy, susceptibility to, 9" RELATED [OMIM:612007] +synonym: "gluten-sensitive enteropathy, susceptibility to, 9" RELATED [] xref: MEDGEN:393783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612007 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:612007"} @@ -291209,7 +291259,7 @@ name: celiac disease, susceptibility to, 10 subset: predisposition synonym: "celiac disease, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:612008] synonym: "CELIAC10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612008] -synonym: "gluten-sensitive enteropathy, susceptibility to, 10" RELATED [OMIM:612008] +synonym: "gluten-sensitive enteropathy, susceptibility to, 10" RELATED [] xref: MEDGEN:394326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612008 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:612008"} @@ -291225,7 +291275,7 @@ name: celiac disease, susceptibility to, 11 subset: predisposition synonym: "celiac disease, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:612009] synonym: "CELIAC11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612009] -synonym: "gluten-sensitive enteropathy, susceptibility to, 11" RELATED [OMIM:612009] +synonym: "gluten-sensitive enteropathy, susceptibility to, 11" RELATED [] xref: MEDGEN:393782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612009 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:612009"} @@ -291241,7 +291291,7 @@ name: celiac disease, susceptibility to, 12 subset: predisposition synonym: "celiac disease, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:612010] synonym: "CELIAC12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612010] -synonym: "gluten-sensitive enteropathy, susceptibility to, 12" RELATED [OMIM:612010] +synonym: "gluten-sensitive enteropathy, susceptibility to, 12" RELATED [] xref: MEDGEN:436989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612010 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:612010"} @@ -291257,7 +291307,7 @@ name: celiac disease, susceptibility to, 13 subset: predisposition synonym: "celiac disease, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:612011] synonym: "CELIAC13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612011] -synonym: "gluten-sensitive enteropathy, susceptibility to, 13" RELATED [OMIM:612011] +synonym: "gluten-sensitive enteropathy, susceptibility to, 13" RELATED [] xref: MEDGEN:383149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612011 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:612011"} @@ -291279,14 +291329,14 @@ subset: orphanet_rare {source="Orphanet:244310"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carbohydrate deficient glycoprotein syndrome type In" EXACT [Orphanet:244310] -synonym: "CDG in" RELATED [OMIM:612015] +synonym: "CDG in" RELATED [] synonym: "CDG syndrome type In" EXACT [Orphanet:244310] synonym: "CDG-In" EXACT [Orphanet:244310] synonym: "CDG1N" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612015, Orphanet:244310] synonym: "CDGIN" RELATED ABBREVIATION [GARD:0012394] synonym: "congenital disorder of glycosylation type 1n" EXACT [Orphanet:244310] synonym: "congenital disorder of glycosylation type In" EXACT [Orphanet:244310] -synonym: "congenital disorder of glycosylation, type In" RELATED [MONDO:Lexical, OMIM:612015] +synonym: "congenital disorder of glycosylation, type In" RELATED [MONDO:Lexical] synonym: "Man5GlcNAc2-PP-Dol flippase deficiency" EXACT [Orphanet:244310] synonym: "RFT1-CDG" EXACT ABBREVIATION [Orphanet:244310] synonym: "RFT1-CDG (CDG-In)" RELATED [GARD:0012394] @@ -291324,11 +291374,11 @@ synonym: "autosomal recessive ataxia due to coenzyme Q10 deficiency" EXACT [Orph synonym: "autosomal recessive cerebellar ataxia type 2" EXACT [Orphanet:139485] synonym: "autosomal recessive spinocerebellar ataxia 9" RELATED [GARD:0010294] synonym: "autosomal recessive spinocerebellar ataxia type 9" EXACT [Orphanet:139485] -synonym: "coenzyme Q10 deficiency, primary, 4" RELATED [MONDO:Lexical, OMIM:612016] -synonym: "coenzyme Q10 deficiency, primary, type 4" EXACT [MONDORULE:1, OMIM:612016] -synonym: "COQ10D4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612016] -synonym: "SCAR9" EXACT ABBREVIATION [Orphanet:139485] -synonym: "spinocerebellar ataxia, autosomal recessive 9" RELATED [OMIM:612016] +synonym: "coenzyme Q10 deficiency, primary, 4" RELATED [MONDO:Lexical] +synonym: "coenzyme Q10 deficiency, primary, type 4" EXACT [MONDORULE:1] +synonym: "COQ10D4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "SCAR9" EXACT ABBREVIATION [DOID:0070241, Orphanet:139485] +synonym: "spinocerebellar ataxia, autosomal recessive 9" RELATED [] xref: DOID:0070241 {source="MONDO:equivalentTo"} xref: GARD:10294 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:139485/attributed", source="Orphanet:139485/ntbt", source="Orphanet:139485"} @@ -291366,14 +291416,14 @@ subset: ordo_disorder {source="Orphanet:247794"} subset: orphanet_rare {source="Orphanet:247794"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cataract 47" RELATED [OMIM:612018] -synonym: "cataract 47, juvenile, with microcornea" EXACT [OMIM:612018, OMIM:genemap2] -synonym: "cataract, juvenile, with microcornea" RELATED [OMIM:612018] -synonym: "cataract, juvenile, with microcornea and glucosuria" RELATED [MONDO:Lexical, OMIM:612018] -synonym: "cataract, juvenile, with microcornea and glucosuria, formerly" RELATED [OMIM:612018] -synonym: "CJMG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612018] -synonym: "CTRCT47" RELATED ABBREVIATION [OMIM:612018] -synonym: "juvenile cataract-microcornea-renal glucosuria syndrome" EXACT CLINGEN_LABEL [] +synonym: "cataract 47" RELATED [] +synonym: "cataract 47, juvenile, with microcornea" EXACT [] +synonym: "cataract, juvenile, with microcornea" RELATED [] +synonym: "cataract, juvenile, with microcornea and glucosuria" RELATED [MONDO:Lexical] +synonym: "cataract, juvenile, with microcornea and glucosuria, formerly" RELATED [] +synonym: "CJMG" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "CTRCT47" RELATED ABBREVIATION [] +synonym: "juvenile cataract-microcornea-renal glucosuria syndrome" EXACT CLINGEN_LABEL [Orphanet:247794] xref: DOID:0070353 {source="MONDO:equivalentTo"} xref: GARD:17196 {source="MONDO:GARD"} xref: MEDGEN:934773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -291400,15 +291450,15 @@ subset: orphanet_rare {source="Orphanet:139480"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 39" EXACT [DOID:0110790] -synonym: "autosomal recessive spastic paraplegia type 39" EXACT [DOID:0110790] +synonym: "autosomal recessive spastic paraplegia type 39" EXACT [DOID:0110790, Orphanet:139480] synonym: "hereditary spastic paraplegia caused by mutation in PNPLA6" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 39" EXACT [DOID:0110790, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 39" EXACT [MONDORULE:2] synonym: "NTE related motor neuron disorder" RELATED [GARD:0004924] synonym: "NTE-related motor neuron disorder" EXACT [DOID:0110790, OMIM:612020] synonym: "NTEMND" EXACT ABBREVIATION [DOID:0110790] synonym: "PNPLA6 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 39" RELATED [GARD:0004924] -synonym: "spastic paraplegia 39, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612020] +synonym: "spastic paraplegia 39, autosomal recessive" RELATED [MONDO:Lexical] synonym: "spastic paraplegia due to neuropathy target esterase mutation" EXACT [DOID:0110790, Orphanet:139480] synonym: "spastic paraplegia due to NTE mutation" EXACT [DOID:0110790, Orphanet:139480] synonym: "SPG39" EXACT ABBREVIATION [DOID:0110790, MONDO:Lexical, OMIM:612020, Orphanet:139480] @@ -291454,11 +291504,11 @@ subset: ordo_disorder {source="Orphanet:210571"} subset: orphanet_rare {source="Orphanet:210571"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dystonia 16" EXACT [MONDO:Lexical, OMIM:612067] -synonym: "dystonia type 16" EXACT [DOID:0090048, MONDORULE:2, OMIM:612067, Orphanet:210571] +synonym: "dystonia 16" EXACT [DOID:0090048, icd11.foundation:548945828, MONDO:Lexical, NCIT:C168729, OMIM:612067, Orphanet:210571] +synonym: "dystonia type 16" EXACT [MONDORULE:2] synonym: "dystonic disorder caused by mutation in PRKRA" EXACT [MONDO:design_pattern] synonym: "DYT-PRKRA" EXACT [PMID:18243799] -synonym: "DYT16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612067, Orphanet:210571] +synonym: "DYT16" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C168729, OMIM:612067, Orphanet:210571] synonym: "early-onset dystonia parkinsonism" EXACT [Orphanet:210571] synonym: "PRKRA dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Young-onset dystonia-(parkinsonism)" RELATED [GARD:0010539] @@ -291493,18 +291543,18 @@ subset: gard_rare {source="GARD:15540", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ALS10" EXACT ABBREVIATION [DOID:0060201, MONDO:Lexical, OMIM:612069] -synonym: "amyotrophic lateral sclerosis 10" EXACT [DOID:0060201, OMIM:612069] -synonym: "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:612069] -synonym: "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia" EXACT [DOID:0060201, OMIM:612069] -synonym: "amyotrophic lateral sclerosis 10, with or without FTD" EXACT [OMIM:612069, OMIM:genemap2] +synonym: "amyotrophic lateral sclerosis 10" EXACT [DOID:0060201] +synonym: "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia" RELATED [MONDO:Lexical] +synonym: "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia" EXACT [DOID:0060201] +synonym: "amyotrophic lateral sclerosis 10, with or without FTD" EXACT [] synonym: "amyotrophic lateral sclerosis caused by mutation in TARDBP" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis type 10" EXACT CLINGEN_LABEL [] -synonym: "frontotemporal dementia with Tdp43 inclusions, Tardbp-related" RELATED [OMIM:612069] -synonym: "frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related" RELATED [OMIM:612069] -synonym: "frontotemporal lobar degeneration, TARDBP-related" EXACT [OMIM:612069, OMIM:genemap2] -synonym: "Ftld-TDP, Tardbp-related" RELATED [OMIM:612069] +synonym: "amyotrophic lateral sclerosis type 10" EXACT CLINGEN_LABEL [DOID:0060201] +synonym: "frontotemporal dementia with Tdp43 inclusions, Tardbp-related" RELATED [] +synonym: "frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related" RELATED [] +synonym: "frontotemporal lobar degeneration, TARDBP-related" EXACT [] +synonym: "Ftld-TDP, Tardbp-related" RELATED [] synonym: "TARDBP amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions" EXACT [DOID:0060201, OMIM:612069] +synonym: "TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions" EXACT [DOID:0060201] xref: DOID:0060201 {source="MONDO:equivalentTo"} xref: GARD:15540 {source="MONDO:GARD"} xref: MEDGEN:383137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -291534,15 +291584,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "booth-Haworth-Dilling syndrome" EXACT [Orphanet:1933] synonym: "encephalomyopathy" RELATED [GARD:0003681] -synonym: "mitochondrial DNA depletion syndrome 5" EXACT [DOID:0080124] -synonym: "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)" RELATED [MONDO:Lexical, OMIM:612073] -synonym: "mitochondrial DNA depletion syndrome type 5" EXACT [DOID:0080124, MONDORULE:1] +synonym: "mitochondrial DNA depletion syndrome 5" EXACT [DOID:0080124, OMIM:612073] +synonym: "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)" RELATED [MONDO:Lexical] +synonym: "mitochondrial DNA depletion syndrome type 5" EXACT [MONDORULE:1] synonym: "mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive" RELATED [GARD:0003681] -synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related" RELATED [OMIM:612073] +synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related" RELATED [] synonym: "mitochondrial encephalomyopathy aminoacidopathy" RELATED [GARD:0003681] synonym: "mitochondrial encephalomyopathy-aminoacidopathy syndrome" EXACT [Orphanet:1933] synonym: "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" EXACT [Orphanet:1933] -synonym: "MTDPS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612073] +synonym: "MTDPS5" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080124 {source="MONDO:equivalentTo"} xref: GARD:3681 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:1933/attributed", source="Orphanet:1933/ntbt", source="Orphanet:1933"} @@ -291569,16 +291619,16 @@ subset: orphanet_rare {source="Orphanet:255235"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "encephalomyopathic type with renal tubulopathy" RELATED [GARD:0013200] -synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)" RELATED [MONDO:Lexical, OMIM:612075] -synonym: "mitochondrial DNA depletion syndrome 8B (Mngie type)" RELATED [OMIM:612075] +synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)" RELATED [MONDO:Lexical] +synonym: "mitochondrial DNA depletion syndrome 8B (Mngie type)" RELATED [] synonym: "mitochondrial DNA depletion syndrome caused by mutation in RRM2B" EXACT [MONDO:design_pattern] -synonym: "mitochondrial DNA depletion syndrome type 8a" EXACT [DOID:0080127, MONDORULE:4] -synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" RELATED [Orphanet:255235] -synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive" RELATED [OMIM:612075] -synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related" RELATED [OMIM:612075] -synonym: "Mngie, Rrm2B-related" RELATED [OMIM:612075] +synonym: "mitochondrial DNA depletion syndrome type 8a" EXACT [MONDORULE:4] +synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" RELATED [] +synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive" RELATED [] +synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related" RELATED [] +synonym: "Mngie, Rrm2B-related" RELATED [] synonym: "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy" EXACT [Orphanet:255235] -synonym: "MTDPS8A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612075] +synonym: "MTDPS8A" RELATED ABBREVIATION [MONDO:Lexical] synonym: "RRM2B mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RRM2B-related mitochondrial DNA depletion syndrome" RELATED [GARD:0013200] xref: DOID:0070331 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -291605,12 +291655,12 @@ subset: gard_rare {source="GARD:15541", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gout susceptibility 2" RELATED [OMIM:612076] +synonym: "gout susceptibility 2" RELATED [] synonym: "hypouricemia, renal, 2" EXACT [MONDO:Lexical, OMIM:612076] -synonym: "hypouricemia, renal, type 2" EXACT [MONDORULE:1, OMIM:612076] -synonym: "RHUC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612076] -synonym: "uric acid concentration, serum, QTL 2" EXACT [OMIM:612076, OMIM:genemap2] -synonym: "uric acid concentration, serum, quantitative trait locus 2" RELATED [OMIM:612076] +synonym: "hypouricemia, renal, type 2" EXACT [MONDORULE:1] +synonym: "RHUC2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "uric acid concentration, serum, QTL 2" EXACT [] +synonym: "uric acid concentration, serum, quantitative trait locus 2" RELATED [] xref: GARD:15541 {source="MONDO:GARD"} xref: MEDGEN:436974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567426 {source="MONDO:equivalentTo"} @@ -291634,10 +291684,10 @@ subset: ordo_disorder {source="Orphanet:157954"} subset: orphanet_rare {source="Orphanet:157954"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alopecia, neurologic defects, and endocrinopathy syndrome" RELATED [MONDO:Lexical, OMIM:612079] -synonym: "alopecia-progressive neurological defect-endocrinopathy syndrome" EXACT [Orphanet:157954] -synonym: "ANE syndrome" EXACT [OMIM:612079] -synonym: "anes" RELATED [MONDO:Lexical, OMIM:612079] +synonym: "alopecia, neurologic defects, and endocrinopathy syndrome" RELATED [MONDO:Lexical] +synonym: "alopecia-progressive neurological defect-endocrinopathy syndrome" EXACT [DOID:0112244, Orphanet:157954] +synonym: "ANE syndrome" EXACT [DOID:0112244, OMIM:612079, Orphanet:157954] +synonym: "anes" RELATED [MONDO:Lexical] xref: DOID:0112244 {source="MONDO:equivalentTo"} xref: GARD:16987 {source="MONDO:GARD"} xref: MEDGEN:394313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -291672,10 +291722,10 @@ subset: gard_rare {source="GARD:10379", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PROM1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinal Degeneration, autosomal recessive, prominin-related" RELATED [OMIM:612095] -synonym: "retinitis pigmentosa 41" EXACT [MONDO:Lexical, OMIM:612095] +synonym: "retinal Degeneration, autosomal recessive, prominin-related" RELATED [] +synonym: "retinitis pigmentosa 41" EXACT [DOID:0110376, MONDO:Lexical, OMIM:612095] synonym: "retinitis pigmentosa caused by mutation in PROM1" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 41" EXACT [DOID:0110376, MONDORULE:2, OMIM:612095] +synonym: "retinitis pigmentosa type 41" EXACT [MONDORULE:2] synonym: "RP 41" RELATED [GARD:0010379] synonym: "RP41" EXACT ABBREVIATION [DOID:0110376, MONDO:Lexical, OMIM:612095] xref: DOID:0110376 {source="MONDO:equivalentTo"} @@ -291698,8 +291748,8 @@ id: MONDO:0012797 name: otosclerosis 8 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "otosclerosis 8" EXACT [MONDO:Lexical, OMIM:612096] -synonym: "OTSC8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612096] +synonym: "otosclerosis 8" EXACT [DOID:0060926, MONDO:Lexical, OMIM:612096] +synonym: "OTSC8" EXACT ABBREVIATION [DOID:0060926, MONDO:Lexical, OMIM:612096] xref: DOID:0060926 {source="MONDO:equivalentTo"} xref: MEDGEN:436965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567421 {source="MONDO:equivalentTo"} @@ -291729,13 +291779,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACTC1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy familial hypertrophic 11" EXACT [DOID:0110317] -synonym: "cardiomyopathy, familial hypertrophic, 11" RELATED [MONDO:Lexical, OMIM:612098] -synonym: "cardiomyopathy, familial hypertrophic, type 11" EXACT [MONDORULE:2, OMIM:612098] -synonym: "cardiomyopathy, hypertrophic, 11" EXACT [OMIM:612098, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 11" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 11" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, hypertrophic, 11" EXACT [] synonym: "CMH11" EXACT ABBREVIATION [DOID:0110317, MONDO:Lexical, OMIM:612098] -synonym: "hypertrophic cardiomyopathy 11" EXACT CLINGEN_LABEL [] +synonym: "hypertrophic cardiomyopathy 11" EXACT CLINGEN_LABEL [DOID:0110317] synonym: "hypertrophic cardiomyopathy caused by mutation in ACTC1" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 11" EXACT [DOID:0110317, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 11" EXACT [MONDORULE:2] xref: DOID:0110317 {source="MONDO:equivalentTo"} xref: MEDGEN:436962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567419 {source="MONDO:equivalentTo"} @@ -291755,11 +291805,11 @@ name: trichoepithelioma, multiple familial, 2 subset: gard_rare {source="GARD:10373", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Mft2" RELATED [OMIM:612099] +synonym: "Mft2" RELATED [] synonym: "multiple familial trichoepithelioma 2" RELATED [GARD:0010373] synonym: "trichoepithelioma multiple familial 2" RELATED [GARD:0010373] synonym: "trichoepithelioma, multiple familial, 2" EXACT [OMIM:612099] -synonym: "trichoepithelioma, multiple familial, type 2" EXACT [MONDORULE:1, OMIM:612099] +synonym: "trichoepithelioma, multiple familial, type 2" EXACT [MONDORULE:1] xref: GARD:10373 {source="MONDO:GARD"} xref: MEDGEN:394303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567418 {source="MONDO:equivalentTo"} @@ -291773,11 +291823,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10373/multip id: MONDO:0012801 name: autism, susceptibility to, 15 subset: predisposition -synonym: "autism susceptibility 15" EXACT [OMIM:612100, OMIM:genemap2] +synonym: "autism susceptibility 15" EXACT [] synonym: "autism, susceptibility to, 15" EXACT [MONDO:Lexical, OMIM:612100] -synonym: "autism, susceptibility to, type 15" EXACT [MONDORULE:2, OMIM:612100] -synonym: "AUTS15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612100] -synonym: "susceptibility to autism 15" RELATED [OMIM:612100] +synonym: "autism, susceptibility to, type 15" EXACT [MONDORULE:2] +synonym: "AUTS15" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to autism 15" RELATED [] xref: MEDGEN:394302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612100 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:612100"} @@ -291801,11 +291851,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:157962"} subset: orphanet_rare {source="Orphanet:157962"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear" RELATED [OMIM:612109] -synonym: "OCACS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612109] -synonym: "oculoauricular syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612109] -synonym: "oculoauricular syndrome, Schorderet type" RELATED [Orphanet:157962] -synonym: "Schorderet-Munier-Franceschetti syndrome" RELATED [OMIM:612109] +synonym: "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear" RELATED [] +synonym: "OCACS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "oculoauricular syndrome" EXACT CLINGEN_LABEL [DOID:0060482, MONDO:Lexical, OMIM:612109] +synonym: "oculoauricular syndrome, Schorderet type" RELATED [] +synonym: "Schorderet-Munier-Franceschetti syndrome" RELATED [] xref: DOID:0060482 {source="MONDO:equivalentTo"} xref: GARD:16988 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:157962/attributed", source="Orphanet:157962/ntbt", source="Orphanet:157962", source="DOID:0060482"} @@ -291829,8 +291879,8 @@ subset: orphanet_rare {source="Orphanet:103909"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "isolated trehalose intolerance" EXACT [Orphanet:103909] -synonym: "trehalase deficiency" RELATED [OMIM:612119] -synonym: "trehalose intolerance" RELATED [OMIM:612119] +synonym: "trehalase deficiency" RELATED [] +synonym: "trehalose intolerance" RELATED [] xref: GARD:10372 {source="MONDO:GARD"} xref: ICD10CM:E74.3 {source="Orphanet:103909", source="Orphanet:103909/attributed", source="Orphanet:103909/ntbt"} xref: icd11.foundation:2025219157 {source="Orphanet:103909", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"} @@ -291858,14 +291908,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathy familial hypertrophic 12" EXACT [DOID:0110318] -synonym: "cardiomyopathy, familial hypertrophic, 12" RELATED [MONDO:Lexical, OMIM:612124] -synonym: "cardiomyopathy, familial hypertrophic, type 12" EXACT [MONDORULE:2, OMIM:612124] -synonym: "cardiomyopathy, hypertrophic, 12" EXACT [OMIM:612124, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 12" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 12" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, hypertrophic, 12" EXACT [] synonym: "CMH12" EXACT ABBREVIATION [DOID:0110318, MONDO:Lexical, OMIM:612124] synonym: "CSRP3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hypertrophic cardiomyopathy 12" EXACT CLINGEN_LABEL [] +synonym: "hypertrophic cardiomyopathy 12" EXACT CLINGEN_LABEL [DOID:0110318] synonym: "hypertrophic cardiomyopathy caused by mutation in CSRP3" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 12" EXACT [DOID:0110318, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 12" EXACT [MONDORULE:2] xref: DOID:0110318 {source="MONDO:equivalentTo"} xref: MEDGEN:393755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612124 {source="DOID:0110318", source="MONDO:equivalentTo"} @@ -291889,23 +291939,24 @@ subset: orphanet_rare {source="Orphanet:98811"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "childhood onset GLUT1 deficiency syndrome 2" EXACT CLINGEN_LABEL [] -synonym: "childhood onset GLUT1 deficiency syndrome type 2" EXACT [DOID:0090045, MONDORULE:1] -synonym: "dystonia 18" EXACT [OMIM:612126, Orphanet:98811] +synonym: "childhood onset GLUT1 deficiency syndrome type 2" EXACT [MONDORULE:1] +synonym: "dystonia 18" EXACT [DOID:0090045, OMIM:612126, Orphanet:98811] synonym: "DYT-SLC2A1" RELATED [GARD:0010541] -synonym: "DYT18" EXACT ABBREVIATION [Orphanet:98811] -synonym: "GLUT1 deficiency syndrome 2" RELATED [MONDO:Lexical, OMIM:612126] -synonym: "GLUT1 deficiency syndrome 2, childhood onset" EXACT [OMIM:612126, OMIM:genemap2] -synonym: "GLUT1 deficiency syndrome type 2" EXACT [MONDORULE:1, OMIM:612126] -synonym: "GLUT1DS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612126] +synonym: "DYT18" EXACT ABBREVIATION [DOID:0090045, Orphanet:98811] +synonym: "GLUT1 deficiency syndrome 2" RELATED [MONDO:Lexical] +synonym: "GLUT1 deficiency syndrome 2, childhood onset" EXACT [] +synonym: "GLUT1 deficiency syndrome type 2" EXACT [MONDORULE:1] +synonym: "GLUT1DS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 [] -synonym: "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126] +synonym: "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia" RELATED [] synonym: "paroxysmal exercise-induced dystonia" EXACT [PMID:26598494] -synonym: "paroxysmal exertion-induced dyskinesia" RELATED [Orphanet:98811] +synonym: "paroxysmal exertion-induced dyskinesia" RELATED [] synonym: "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 [] -synonym: "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126] -synonym: "ped" EXACT [Orphanet:98811] +synonym: "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia" RELATED [] +synonym: "PED" EXACT ABBREVIATION [Orphanet:98811] +synonym: "ped" EXACT [] synonym: "ped with or without epilepsy and/or hemolytic Anaemia" RELATED OMO:0003005 [] -synonym: "ped with or without epilepsy and/or hemolytic Anemia" RELATED [OMIM:612126] +synonym: "ped with or without epilepsy and/or hemolytic Anemia" RELATED [] synonym: "PxMD-SLC2A1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] xref: DOID:0090045 {source="MONDO:equivalentTo"} xref: GARD:10541 {source="MONDO:GARD"} @@ -291931,8 +291982,8 @@ subset: gard_rare {source="GARD:15542", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant" EXACT [OMIM:612132] -synonym: "EPAID2" EXACT ABBREVIATION [OMIM:612132] +synonym: "ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant" EXACT [NCIT:C176826, OMIM:612132] +synonym: "EPAID2" EXACT ABBREVIATION [] xref: DOID:0081079 {source="MONDO:equivalentTo"} xref: GARD:15542 {source="MONDO:GARD"} xref: MEDGEN:394295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -291955,11 +292006,11 @@ subset: ordo_disorder {source="Orphanet:158684"} subset: orphanet_rare {source="Orphanet:158684"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EBS with pyloric atresia" RELATED [OMIM:612138] -synonym: "EBS-PA" EXACT [Orphanet:158684] -synonym: "EBSPA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612138] -synonym: "epidermolysis bullosa simplex 5C, with pyloric atresia" EXACT [OMIM:612138, OMIM:genemap2] -synonym: "epidermolysis bullosa simplex with pyloric atresia" EXACT [MONDO:Lexical, OMIM:612138] +synonym: "EBS with pyloric atresia" RELATED [] +synonym: "EBS-PA" EXACT ABBREVIATION [Orphanet:158684] +synonym: "EBSPA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "epidermolysis bullosa simplex 5C, with pyloric atresia" EXACT [OMIM:612138] +synonym: "epidermolysis bullosa simplex with pyloric atresia" EXACT [MONDO:Lexical, OMIM:612138, Orphanet:158684] xref: GARD:16991 {source="MONDO:GARD"} xref: ICD10CM:Q81.0 {source="Orphanet:158684", source="Orphanet:158684/attributed", source="Orphanet:158684/ntbt"} xref: MEDGEN:436922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -291981,13 +292032,13 @@ subset: gard_rare {source="GARD:15543", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ACTN2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction" RELATED [MONDO:Lexical, OMIM:612158] -synonym: "cardiomyopathy, dilated, 1AA, with or without LVNC" EXACT [OMIM:612158, OMIM:genemap2] -synonym: "cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction" RELATED [OMIM:612158] -synonym: "cardiomyopathy, hypertrophic, 23, with or without LVNC" EXACT [OMIM:612158, OMIM:genemap2] +synonym: "cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, 1AA, with or without LVNC" EXACT [] +synonym: "cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction" RELATED [] +synonym: "cardiomyopathy, hypertrophic, 23, with or without LVNC" EXACT [] synonym: "CMD1AA" EXACT ABBREVIATION [DOID:0110428, MONDO:Lexical, OMIM:612158] synonym: "dilated cardiomyopathy 1AA with or without left ventricular noncompaction" EXACT [DOID:0110428] -synonym: "dilated cardiomyopathy type 1AA" EXACT [DOID:0110428, MONDORULE:9] +synonym: "dilated cardiomyopathy type 1AA" EXACT [MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in ACTN2" EXACT [MONDO:design_pattern] xref: DOID:0110428 {source="MONDO:equivalentTo"} xref: GARD:15543 {source="MONDO:GARD"} @@ -292014,11 +292065,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:569164"} subset: orphanet_rare {source="Orphanet:569164"} subset: rare -synonym: "AFH" EXACT ABBREVIATION [NCIT:C6494] -synonym: "angiomatoid fibrous histiocytoma" EXACT [NCIT:C6494] +synonym: "AFH" EXACT ABBREVIATION [NCIT:C6494, Orphanet:569164] +synonym: "angiomatoid fibrous histiocytoma" EXACT [NCIT:C6494, Orphanet:569164] synonym: "angiomatoid malignant fibrous histiocytoma" EXACT [NCIT:C6494] synonym: "histiocytoma, Angiomatoid fibrous" EXACT [OMIM:612160] -synonym: "histiocytoma, angiomatoid fibrous, somatic" EXACT [OMIM:612160, OMIM:genemap2] +synonym: "histiocytoma, angiomatoid fibrous, somatic" EXACT [] xref: GARD:22303 {source="MONDO:GARD"} xref: ICDO:8836/1 {source="NCIT:C6494"} xref: MEDGEN:226845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -292039,7 +292090,7 @@ name: aneurysm, intracranial berry, 7 subset: gard_rare {source="GARD:18325", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, intracranial BERRY, 7" RELATED [MONDO:Lexical, OMIM:612161] +synonym: "aneurysm, intracranial BERRY, 7" RELATED [MONDO:Lexical] synonym: "ANIB7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612161] xref: DOID:0080970 {source="MONDO:equivalentTo"} xref: GARD:18325 {source="MONDO:GARD"} @@ -292055,7 +292106,7 @@ name: aneurysm, intracranial berry, 8 subset: gard_rare {source="GARD:18326", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, intracranial BERRY, 8" RELATED [MONDO:Lexical, OMIM:612162] +synonym: "aneurysm, intracranial BERRY, 8" RELATED [MONDO:Lexical] synonym: "ANIB8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612162] xref: DOID:0080971 {source="MONDO:equivalentTo"} xref: GARD:18326 {source="MONDO:GARD"} @@ -292075,14 +292126,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:599373"} subset: orphanet_rare {source="Orphanet:599373"} subset: rare -synonym: "DEE4" EXACT ABBREVIATION [OMIM:612164] -synonym: "developmental and epileptic encephalopathy 4" EXACT [OMIM:612164, OMIM:genemap2] +synonym: "DEE4" EXACT ABBREVIATION [DOID:0080436, NCIT:C162472, OMIM:612164] +synonym: "developmental and epileptic encephalopathy 4" EXACT [DOID:0080436, NCIT:C162472, OMIM:612164] synonym: "developmental and epileptic encephalopathy, 4" EXACT CLINGEN_LABEL [] -synonym: "early infantile epileptic encephalopathy 4" EXACT [GARD:0012900] +synonym: "early infantile epileptic encephalopathy 4" EXACT [DOID:0080436, GARD:0012900, NCIT:C162472] synonym: "early infantile epileptic encephalopathy caused by mutation in STXBP1" EXACT [MONDO:design_pattern] -synonym: "EIEE4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612164] +synonym: "EIEE4" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C162472] synonym: "epileptic encephalopathy, early infantile, 4" EXACT [MONDO:Lexical, OMIM:612164] -synonym: "epileptic encephalopathy, early infantile, type 4" EXACT [MONDORULE:1, OMIM:612164] +synonym: "epileptic encephalopathy, early infantile, type 4" EXACT [MONDORULE:1] synonym: "STXBP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "STXBP1-related early-onset encephalopathy" RELATED [GARD:0012900] synonym: "STXBP1-related encephalopathy" EXACT [Orphanet:599373] @@ -292111,8 +292162,8 @@ def: "A retinitis pigmentosa that has material basis in variation in the chromos subset: gard_rare {source="GARD:10378", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 29" EXACT [MONDO:Lexical, OMIM:612165] -synonym: "retinitis pigmentosa type 29" EXACT [DOID:0110378, MONDORULE:2] +synonym: "retinitis pigmentosa 29" EXACT [DOID:0110378, MONDO:Lexical, OMIM:612165] +synonym: "retinitis pigmentosa type 29" EXACT [MONDORULE:2] synonym: "RP 29" RELATED [GARD:0010378] synonym: "RP29" EXACT ABBREVIATION [DOID:0110378, MONDO:Lexical, OMIM:612165] xref: DOID:0110378 {source="MONDO:equivalentTo"} @@ -292147,8 +292198,8 @@ subset: orphanet_rare {source="Orphanet:313838"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebroretinal microangiopathy with calcfications and cysts" EXACT [OMIMPS:612199] -synonym: "cerebroretinal microangiopathy with calcifications and cysts" EXACT [MONDO:Lexical, OMIM:612199, Orphanet:313838] -synonym: "CRMCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612199, Orphanet:313838] +synonym: "cerebroretinal microangiopathy with calcifications and cysts" EXACT [MONDO:Lexical, Orphanet:313838] +synonym: "CRMCC" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:313838] xref: GARD:17412 {source="MONDO:GARD"} xref: ICD10CM:H35.0 {source="Orphanet:313838/attributed", source="Orphanet:313838/ntbt", source="Orphanet:313838"} xref: ICD9:348.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -292168,9 +292219,9 @@ name: atrial fibrillation, familial, 6 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15544", source="MONDO:GARD"} subset: rare -synonym: "ATFB6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612201] +synonym: "ATFB6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrial fibrillation, familial, 6" EXACT [MONDO:Lexical, OMIM:612201] -synonym: "atrial fibrillation, familial, type 6" EXACT [MONDORULE:1, OMIM:612201] +synonym: "atrial fibrillation, familial, type 6" EXACT [MONDORULE:1] synonym: "familial atrial fibrillation caused by mutation in NPPA" EXACT [MONDO:design_pattern] synonym: "NPPA familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15544 {source="MONDO:GARD"} @@ -292194,32 +292245,32 @@ subset: orphanet_rare {source="Orphanet:319"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ES" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C4817, OMIM:612219] -synonym: "Ewing sarcoma" EXACT [MONDO:Lexical, NCIT:C4817, OMIM:612219] +synonym: "Ewing sarcoma" EXACT [DOID:3369, MONDO:Lexical, NCIT:C4817, OMIM:612219] synonym: "Ewing tumor" RELATED [GARD:0006390] synonym: "Ewing tumour" RELATED OMO:0003005 [] synonym: "Ewing's family localised tumour" EXACT OMO:0003005 [] synonym: "Ewing's family localized tumor" EXACT [DOID:3369] synonym: "Ewing's sarcoma" EXACT [NCIT:C4817] -synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [DOID:3369] +synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] -synonym: "Ewing's tumor" EXACT [NCIT:C4817] +synonym: "Ewing's tumor" EXACT [DOID:3369, NCIT:C4817] synonym: "Ewing's tumour" EXACT OMO:0003005 [] synonym: "Ewings sarcoma" EXACT [DOID:3369] -synonym: "Ewings sarcoma-primitive neuroectodermal tumor" RELATED [DOID:3369] +synonym: "Ewings sarcoma-primitive neuroectodermal tumor" RELATED [] synonym: "Ewings sarcoma-primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "localised Ewing sarcoma" RELATED OMO:0003005 [] synonym: "localised Ewing's sarcoma" RELATED OMO:0003005 [] synonym: "localised Ewing's sarcoma/peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "localised Ewing's tumour" RELATED OMO:0003005 [] synonym: "localised peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] -synonym: "localized Ewing sarcoma" RELATED [DOID:3369] -synonym: "localized Ewing's sarcoma" RELATED [DOID:3369] -synonym: "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED [DOID:3369] -synonym: "localized Ewing's tumor" RELATED [DOID:3369] -synonym: "localized peripheral primitive neuroectodermal tumor" RELATED [DOID:3369] -synonym: "neuroepithelioma" RELATED [OMIM:612219, OMIM:genemap2] -synonym: "neuroepithelioma, peripheral" RELATED [OMIM:612219] -synonym: "peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [DOID:3369] +synonym: "localized Ewing sarcoma" RELATED [] +synonym: "localized Ewing's sarcoma" RELATED [] +synonym: "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED [] +synonym: "localized Ewing's tumor" RELATED [] +synonym: "localized peripheral primitive neuroectodermal tumor" RELATED [] +synonym: "neuroepithelioma" RELATED [] +synonym: "neuroepithelioma, peripheral" RELATED [] +synonym: "peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [] synonym: "peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "PNET of Thoracopulmonary region" EXACT [DOID:3369] synonym: "sarcoma, Ewing's" RELATED [GARD:0006390] @@ -292274,8 +292325,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "diabetes mellitus MODY type 9" RELATED [GARD:0010663] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in PAX4" EXACT [] -synonym: "maturity-onset diabetes of the young, type 9" RELATED [MONDO:Lexical, OMIM:612225] -synonym: "maturity-onset diabetes of the young, type IX" EXACT [OMIM:612225, OMIM:genemap2] +synonym: "maturity-onset diabetes of the young, type 9" RELATED [MONDO:Lexical] +synonym: "maturity-onset diabetes of the young, type IX" EXACT [] synonym: "MODY PAX4 related" RELATED [GARD:0010663] synonym: "MODY type 9" RELATED [GARD:0010663] synonym: "MODY9" EXACT ABBREVIATION [DOID:0111107, MONDO:Lexical, OMIM:612225] @@ -292302,7 +292353,7 @@ name: diabetic ketoacidosis def: "The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids." [NCIT:P378] subset: otar {source="MONDO:OTAR"} synonym: "ketosis-prone diabetes mellitus" EXACT [DOID:1837] -synonym: "KPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612227] +synonym: "KPD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:1837 {source="MONDO:equivalentTo", source="EFO:1000897"} xref: EFO:1000897 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:250.1 {source="DOID:1837"} @@ -292332,11 +292383,11 @@ subset: predisposition subset: rare synonym: "colorectal cancer caused by mutation in SMAD7" EXACT [MONDO:design_pattern] synonym: "colorectal cancer, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:612229] -synonym: "colorectal cancer, susceptibility to, on chromosome 18" RELATED [OMIM:612229] -synonym: "colorectal cancer, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612229] -synonym: "CRCS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612229] +synonym: "colorectal cancer, susceptibility to, on chromosome 18" RELATED [] +synonym: "colorectal cancer, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "CRCS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SMAD7 colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to colorectal cancer 3" RELATED [OMIM:612229] +synonym: "susceptibility to colorectal cancer 3" RELATED [] xref: MEDGEN:436866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612229 {source="MONDO:equivalentTo"} xref: UMLS:C2677123 {source="MONDO:equivalentTo", source="MEDGEN:436866", source="MONDO:MEDGEN"} @@ -292352,7 +292403,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare synonym: "colorectal cancer, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612230] -synonym: "colorectal cancer, susceptibility to, on chromosome 10" RELATED [OMIM:612230] +synonym: "colorectal cancer, susceptibility to, on chromosome 10" RELATED [] synonym: "CRCS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612230] xref: MEDGEN:393664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612230 {source="MONDO:equivalentTo"} @@ -292369,7 +292420,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare synonym: "colorectal cancer, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:612231] -synonym: "colorectal cancer, susceptibility to, on chromosome 8Q23" RELATED [OMIM:612231] +synonym: "colorectal cancer, susceptibility to, on chromosome 8Q23" RELATED [] synonym: "CRCS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612231] xref: MEDGEN:436865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612231 {source="MONDO:equivalentTo"} @@ -292386,7 +292437,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare synonym: "colorectal cancer, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:612232] -synonym: "colorectal cancer, susceptibility to, on chromosome 11" RELATED [OMIM:612232] +synonym: "colorectal cancer, susceptibility to, on chromosome 11" RELATED [] synonym: "CRCS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612232] xref: MEDGEN:394209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612232 {source="MONDO:equivalentTo"} @@ -292407,15 +292458,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HLD4" EXACT ABBREVIATION [DOID:0060789, MONDO:Lexical, OMIM:612233] synonym: "HSPD1 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hypomyelinating leukodystrophy type 4" EXACT [DOID:0060789, MONDORULE:1] +synonym: "hypomyelinating leukodystrophy type 4" EXACT [MONDORULE:1] synonym: "leukodystrophy caused by mutation in HSPD1" EXACT [MONDO:design_pattern] -synonym: "leukodystrophy, hypomyelinating, 4" RELATED [MONDO:Lexical, OMIM:612233] -synonym: "leukodystrophy, hypomyelinating, type 4" EXACT [MONDORULE:1, OMIM:612233] -synonym: "MitCHAP60 disease" EXACT [DOID:0060789] -synonym: "Mitchap60 disease" RELATED [OMIM:612233] -synonym: "mitochondrial HSP60 chaperonopathy" EXACT [DOID:0060789, Orphanet:280288] -synonym: "mitochondrial Hsp60 chaperonopathy" RELATED [OMIM:612233] -synonym: "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT [DOID:0060789] +synonym: "leukodystrophy, hypomyelinating, 4" RELATED [MONDO:Lexical] +synonym: "leukodystrophy, hypomyelinating, type 4" EXACT [MONDORULE:1] +synonym: "MitCHAP60 disease" EXACT [DOID:0060789, OMIM:612233] +synonym: "Mitchap60 disease" RELATED [] +synonym: "mitochondrial HSP60 chaperonopathy" EXACT [DOID:0060789, OMIM:612233, Orphanet:280288] +synonym: "mitochondrial Hsp60 chaperonopathy" RELATED [] +synonym: "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT [DOID:0060789, Orphanet:280288] xref: DOID:0060789 {source="MONDO:equivalentTo"} xref: GARD:17294 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="DOID:0060789", source="Orphanet:280288/attributed", source="Orphanet:280288/ntbt", source="Orphanet:280288"} @@ -292443,11 +292494,11 @@ subset: ordo_disorder {source="Orphanet:209916"} subset: orphanet_rare {source="Orphanet:209916"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chondrosarcoma, extraskeletal myxoid" RELATED [OMIM:612237] -synonym: "EMC" RELATED ABBREVIATION [OMIM:612237] +synonym: "chondrosarcoma, extraskeletal myxoid" RELATED [] +synonym: "EMC" RELATED ABBREVIATION [] synonym: "extraosseous chondrosarcoma" EXACT [NCIT:C27502] synonym: "extraskeletal chondrosarcoma" EXACT [NCIT:C27502] -synonym: "myxoid extraosseous chondrosarcoma" EXACT [DOID:6496, NCIT:C27502] +synonym: "myxoid extraosseous chondrosarcoma" EXACT [NCIT:C27502] synonym: "myxoid extraskeletal chondrosarcoma" EXACT [NCIT:C27502] xref: DOID:6496 {source="MONDO:equivalentObsolete"} xref: GARD:17105 {source="MONDO:GARD"} @@ -292468,7 +292519,7 @@ id: MONDO:0012826 name: scoliosis, isolated, susceptibility to, 4 subset: predisposition synonym: "IS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612238] -synonym: "scoliosis, idiopathic, susceptibility to, 4" EXACT [OMIM:612238, OMIM:genemap2] +synonym: "scoliosis, idiopathic, susceptibility to, 4" EXACT [] synonym: "scoliosis, isolated, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:612238] xref: MEDGEN:393659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612238 {source="MONDO:equivalentTo"} @@ -292482,7 +292533,7 @@ id: MONDO:0012827 name: scoliosis, isolated, susceptibility to, 5 subset: predisposition synonym: "IS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612239] -synonym: "scoliosis, idiopathic, susceptibility to, 5" EXACT [OMIM:612239, OMIM:genemap2] +synonym: "scoliosis, idiopathic, susceptibility to, 5" EXACT [] synonym: "scoliosis, isolated, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612239] xref: MEDGEN:436862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612239 {source="MONDO:equivalentTo"} @@ -292497,9 +292548,9 @@ name: atrial fibrillation, familial, 7 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15545", source="MONDO:GARD"} subset: rare -synonym: "ATFB7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612240] +synonym: "ATFB7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrial fibrillation, familial, 7" EXACT [MONDO:Lexical, OMIM:612240] -synonym: "atrial fibrillation, familial, type 7" EXACT [MONDORULE:1, OMIM:612240] +synonym: "atrial fibrillation, familial, type 7" EXACT [MONDORULE:1] synonym: "familial atrial fibrillation caused by mutation in KCNA5" EXACT [MONDO:design_pattern] synonym: "KCNA5 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15545 {source="MONDO:GARD"} @@ -292518,8 +292569,8 @@ id: MONDO:0012829 name: inflammatory bowel disease 12 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3" [DOID:0110887, PMID:17804789] synonym: "IBD12" EXACT ABBREVIATION [DOID:0110887, MONDO:Lexical, OMIM:612241] -synonym: "inflammatory bowel disease 12" EXACT [MONDO:Lexical, OMIM:612241] -synonym: "inflammatory bowel disease type 12" EXACT [DOID:0110887, MONDORULE:2] +synonym: "inflammatory bowel disease 12" EXACT [DOID:0110887, MONDO:Lexical, OMIM:612241] +synonym: "inflammatory bowel disease type 12" EXACT [MONDORULE:2] xref: DOID:0110887 {source="MONDO:equivalentTo"} xref: MEDGEN:436861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567388 {source="MONDO:equivalentTo"} @@ -292541,14 +292592,14 @@ subset: orphanet_rare {source="Orphanet:276413"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "10q22.3q23 microdeletion syndrome" RELATED [GARD:0013018] -synonym: "10q22.3q23.3 microdeletion syndrome" RELATED [Orphanet:276413] -synonym: "chromosome 10Q22.3-q23.2 deletion syndrome" RELATED [OMIM:612242] -synonym: "chromosome 10q22.3-q23.2 deletion syndrome" RELATED [OMIM:612242] -synonym: "chromosome 10q23 deletion syndrome" EXACT [OMIM:612242] +synonym: "10q22.3q23.3 microdeletion syndrome" RELATED [] +synonym: "chromosome 10Q22.3-q23.2 deletion syndrome" RELATED [] +synonym: "chromosome 10q22.3-q23.2 deletion syndrome" RELATED [] +synonym: "chromosome 10q23 deletion syndrome" EXACT [DOID:0060389] synonym: "Del(10)(q22.3q23.3)" EXACT [Orphanet:276413] synonym: "deletion 10q22.3q23.3" EXACT [Orphanet:276413] -synonym: "juvenile polyposis of infancy" RELATED [OMIM:612242] -synonym: "juvenile polyposis, infantile" RELATED [OMIM:612242] +synonym: "juvenile polyposis of infancy" RELATED [] +synonym: "juvenile polyposis, infantile" RELATED [] synonym: "monosomy 10q22.3q23.3" EXACT [GARD:0013018, Orphanet:276413] xref: DOID:0060389 {source="MONDO:equivalentTo"} xref: GARD:17280 {source="MONDO:GARD"} @@ -292572,9 +292623,9 @@ name: inflammatory bowel disease 13 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ABCB1 inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "IBD13" EXACT ABBREVIATION [DOID:0110893, MONDO:Lexical, OMIM:612244] -synonym: "inflammatory bowel disease 13" EXACT [MONDO:Lexical, OMIM:612244] +synonym: "inflammatory bowel disease 13" EXACT [DOID:0110893, MONDO:Lexical, OMIM:612244] synonym: "inflammatory bowel disease caused by mutation in ABCB1" EXACT [MONDO:design_pattern] -synonym: "inflammatory bowel disease type 13" EXACT [DOID:0110893, MONDORULE:2, OMIM:612244] +synonym: "inflammatory bowel disease type 13" EXACT [MONDORULE:2] xref: DOID:0110893 {source="MONDO:equivalentTo"} xref: MEDGEN:394202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567384 {source="MONDO:equivalentTo"} @@ -292592,9 +292643,9 @@ id: MONDO:0012832 name: inflammatory bowel disease 14 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "IBD14" EXACT ABBREVIATION [DOID:0110895, MONDO:Lexical, OMIM:612245] -synonym: "inflammatory bowel disease 14" EXACT [MONDO:Lexical, OMIM:612245] +synonym: "inflammatory bowel disease 14" EXACT [DOID:0110895, MONDO:Lexical, OMIM:612245] synonym: "inflammatory bowel disease caused by mutation in IRF5" EXACT [MONDO:design_pattern] -synonym: "inflammatory bowel disease type 14" EXACT [DOID:0110895, MONDORULE:2, OMIM:612245] +synonym: "inflammatory bowel disease type 14" EXACT [MONDORULE:2] synonym: "IRF5 inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110895 {source="MONDO:equivalentTo"} xref: MEDGEN:436860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -292620,11 +292671,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:93262"} subset: orphanet_rare {source="Orphanet:93262"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CAN" EXACT ABBREVIATION [DOID:0111161, MONDO:Lexical, OMIM:612247] -synonym: "can" RELATED [OMIM:612247] +synonym: "CAN" EXACT ABBREVIATION [DOID:0111161, MONDO:Lexical, NCIT:C38145, OMIM:612247] +synonym: "can" RELATED [] synonym: "chronic allograft nephropathy" EXACT [NCIT:C38145] synonym: "Chronic kidney allograft nephropathy" EXACT [NCIT:C38145] -synonym: "Crouzon syndrome with acanthosis nigricans" RELATED [MONDO:Lexical, OMIM:612247] +synonym: "Crouzon syndrome with acanthosis nigricans" RELATED [MONDO:Lexical] synonym: "Crouzon-dermoskeletal syndrome" EXACT [DOID:0111161, Orphanet:93262] synonym: "Crouzonodermoskeletal syndrome" EXACT [DOID:0111161, OMIM:612247] xref: DOID:0111161 {source="MONDO:equivalentTo"} @@ -292654,11 +292705,11 @@ name: systemic lupus erythematosus, susceptibility to, 10 def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "IRF5 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "SLEB10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612251] -synonym: "susceptibility to systemic lupus erythematosus 10" RELATED [OMIM:612251] +synonym: "SLEB10" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to systemic lupus erythematosus 10" RELATED [] synonym: "systemic lupus erythematosus (disease) caused by mutation in IRF5" EXACT [] synonym: "systemic lupus erythematosus, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:612251] -synonym: "systemic lupus erythematosus, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:612251] +synonym: "systemic lupus erythematosus, susceptibility to, type 10" EXACT [MONDORULE:2] xref: MEDGEN:436859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612251 {source="MONDO:equivalentTo"} xref: Orphanet:536 {source="OMIM:612251"} @@ -292674,12 +292725,12 @@ id: MONDO:0012835 name: systemic lupus erythematosus, susceptibility to, 11 def: "Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "SLEB11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612253] +synonym: "SLEB11" RELATED ABBREVIATION [MONDO:Lexical] synonym: "STAT4 systemic lupus erythematosus (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to systemic lupus erythematosus 11" RELATED [OMIM:612253] +synonym: "susceptibility to systemic lupus erythematosus 11" RELATED [] synonym: "systemic lupus erythematosus (disease) caused by mutation in STAT4" EXACT [] synonym: "systemic lupus erythematosus, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:612253] -synonym: "systemic lupus erythematosus, susceptibility to, type 11" EXACT [MONDORULE:2, OMIM:612253] +synonym: "systemic lupus erythematosus, susceptibility to, type 11" EXACT [MONDORULE:2] xref: MEDGEN:393656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612253 {source="MONDO:equivalentTo"} xref: Orphanet:536 {source="OMIM:612253"} @@ -292707,8 +292758,8 @@ id: MONDO:0012837 name: inflammatory bowel disease 15 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21." [DOID:0110897, PMID:18438406] synonym: "IBD15" EXACT ABBREVIATION [DOID:0110897, MONDO:Lexical, OMIM:612255] -synonym: "inflammatory bowel disease 15" EXACT [MONDO:Lexical, OMIM:612255] -synonym: "inflammatory bowel disease type 15" EXACT [DOID:0110897, MONDORULE:2] +synonym: "inflammatory bowel disease 15" EXACT [DOID:0110897, MONDO:Lexical, OMIM:612255] +synonym: "inflammatory bowel disease type 15" EXACT [MONDORULE:2] xref: DOID:0110897 {source="MONDO:equivalentTo"} xref: MEDGEN:383025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567381 {source="MONDO:equivalentTo"} @@ -292723,8 +292774,8 @@ id: MONDO:0012838 name: inflammatory bowel disease 16 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32." [DOID:0110896, PMID:18587394] synonym: "IBD16" EXACT ABBREVIATION [DOID:0110896, MONDO:Lexical, OMIM:612259] -synonym: "inflammatory bowel disease 16" EXACT [MONDO:Lexical, OMIM:612259] -synonym: "inflammatory bowel disease type 16" EXACT [DOID:0110896, MONDORULE:2] +synonym: "inflammatory bowel disease 16" EXACT [DOID:0110896, MONDO:Lexical, OMIM:612259] +synonym: "inflammatory bowel disease type 16" EXACT [MONDORULE:2] xref: DOID:0110896 {source="MONDO:equivalentTo"} xref: MEDGEN:383024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567380 {source="MONDO:equivalentTo"} @@ -292743,9 +292794,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:183713"} subset: orphanet_rare {source="Orphanet:183713"} subset: rare -synonym: "immunodeficiency 68" EXACT [OMIM:612260, OMIM:genemap2] -synonym: "MyD88 deficiency" EXACT [MONDO:Lexical, OMIM:612260, Orphanet:183713] -synonym: "MYD88D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612260] +synonym: "immunodeficiency 68" EXACT [OMIM:612260] +synonym: "MyD88 deficiency" EXACT [MONDO:Lexical, OMIM:612260] +synonym: "MYD88D" EXACT ABBREVIATION [MONDO:Lexical] synonym: "pyogenic bacterial infections, recurrent, due to MyD88 deficiency" EXACT [OMIM:612260] synonym: "recurrent pyogenic bacterial infections due to MyD88 deficiency" EXACT [OMIM:612260] xref: GARD:12638 {source="MONDO:GARD"} @@ -292768,10 +292819,10 @@ name: inflammatory bowel disease 17 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene." [MONDO:patterns/disease_series_by_gene] synonym: "IBD17" EXACT ABBREVIATION [DOID:0110883, MONDO:Lexical, OMIM:612261] synonym: "IL23R inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "inflammatory bowel disease 17" EXACT [MONDO:Lexical, OMIM:612261] -synonym: "inflammatory bowel disease 17, protection against" EXACT [OMIM:612261, OMIM:genemap2] +synonym: "inflammatory bowel disease 17" EXACT [DOID:0110883, MONDO:Lexical, OMIM:612261] +synonym: "inflammatory bowel disease 17, protection against" EXACT [] synonym: "inflammatory bowel disease caused by mutation in IL23R" EXACT [MONDO:design_pattern] -synonym: "inflammatory bowel disease type 17" EXACT [DOID:0110883, MONDORULE:2, OMIM:612261] +synonym: "inflammatory bowel disease type 17" EXACT [MONDORULE:2] xref: DOID:0110883 {source="MONDO:equivalentTo"} xref: MEDGEN:436857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567378 {source="MONDO:equivalentTo"} @@ -292790,8 +292841,8 @@ id: MONDO:0012841 name: inflammatory bowel disease 18 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1." [DOID:0110888, PMID:17447842] synonym: "IBD18" EXACT ABBREVIATION [DOID:0110888, MONDO:Lexical, OMIM:612262] -synonym: "inflammatory bowel disease 18" EXACT [MONDO:Lexical, OMIM:612262] -synonym: "inflammatory bowel disease type 18" EXACT [DOID:0110888, MONDORULE:2] +synonym: "inflammatory bowel disease 18" EXACT [DOID:0110888, MONDO:Lexical, OMIM:612262] +synonym: "inflammatory bowel disease type 18" EXACT [MONDORULE:2] xref: DOID:0110888 {source="MONDO:equivalentTo"} xref: MEDGEN:393655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567377 {source="MONDO:equivalentTo"} @@ -292808,7 +292859,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare synonym: "CMM7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612263] -synonym: "melanoma, cutaneous malignant, 7" EXACT [OMIM:612263, OMIM:genemap2] +synonym: "melanoma, cutaneous malignant, 7" EXACT [] synonym: "melanoma, cutaneous malignant, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:612263] xref: MEDGEN:394200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612263 {source="MONDO:equivalentTo"} @@ -292830,9 +292881,9 @@ subset: predisposition synonym: "childhood absence epilepsy caused by mutation in GABRB3" EXACT [MONDO:design_pattern] synonym: "ECA5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612269] synonym: "epilepsy, childhood absence, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612269] -synonym: "epilepsy, childhood absence, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612269] +synonym: "epilepsy, childhood absence, susceptibility to, type 5" EXACT [MONDORULE:1] synonym: "GABRB3 childhood absence epilepsy" RELATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to childhood absence epilepsy 5" EXACT [OMIM:612269] +synonym: "susceptibility to childhood absence epilepsy 5" EXACT [] xref: MEDGEN:393654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612269 {source="MONDO:equivalentTo"} xref: Orphanet:64280 {source="OMIM:612269"} @@ -292850,10 +292901,10 @@ subset: gard_rare {source="GARD:15546", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD8" EXACT ABBREVIATION [DOID:0110616, MONDO:Lexical, OMIM:612274] -synonym: "ciliary dyskinesia, primary, 8" RELATED [MONDO:Lexical, OMIM:612274] -synonym: "ciliary dyskinesia, primary, 8, with or without situs inversus" RELATED [OMIM:612274] +synonym: "ciliary dyskinesia, primary, 8" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 8, with or without situs inversus" RELATED [] synonym: "primary ciliary dyskinesia 8 with or without situs inversus" EXACT [DOID:0110616] -synonym: "primary ciliary dyskinesia type 8" EXACT [DOID:0110616, MONDORULE:1] +synonym: "primary ciliary dyskinesia type 8" EXACT [MONDORULE:1] xref: DOID:0110616 {source="MONDO:equivalentTo"} xref: GARD:15546 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110616"} @@ -292869,10 +292920,10 @@ id: MONDO:0012845 name: inflammatory bowel disease 19 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene." [MONDO:patterns/disease_series_by_gene] synonym: "IBD19" EXACT ABBREVIATION [DOID:0110890, MONDO:Lexical, OMIM:612278] -synonym: "inflammatory bowel disease (Crohn disease) 19" EXACT [DOID:0110890] -synonym: "inflammatory bowel disease 19" EXACT [MONDO:Lexical, OMIM:612278] +synonym: "inflammatory bowel disease (Crohn disease) 19" EXACT [DOID:0110890, OMIM:612278] +synonym: "inflammatory bowel disease 19" EXACT [DOID:0110890, MONDO:Lexical] synonym: "inflammatory bowel disease caused by mutation in IRGM" EXACT [MONDO:design_pattern] -synonym: "inflammatory bowel disease type 19" EXACT [DOID:0110890, MONDORULE:2, OMIM:612278] +synonym: "inflammatory bowel disease type 19" EXACT [MONDORULE:2] synonym: "IRGM inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110890 {source="MONDO:equivalentTo"} xref: MEDGEN:393652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -292891,8 +292942,8 @@ id: MONDO:0012846 name: generalized epilepsy with febrile seizures plus, type 6 subset: gard_rare {source="GARD:18663", source="MONDO:GARD"} subset: rare -synonym: "Gefs+, type 6" RELATED [OMIM:612279] -synonym: "GEFSP6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612279] +synonym: "Gefs+, type 6" RELATED [] +synonym: "GEFSP6" EXACT ABBREVIATION [DOID:0111300, MONDO:Lexical, OMIM:612279] synonym: "generalized epilepsy with febrile seizures plus, type 6" EXACT [MONDO:Lexical, OMIM:612279] xref: DOID:0111300 {source="MONDO:equivalentTo"} xref: GARD:18663 {source="MONDO:GARD"} @@ -292912,10 +292963,10 @@ subset: gard_rare {source="GARD:15547", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARCI6" EXACT ABBREVIATION [DOID:0060715, MONDO:Lexical, OMIM:612281] -synonym: "autosomal recessive congenital ichthyosis type 6" EXACT [DOID:0060715, MONDORULE:1] -synonym: "ichthyosis, congenital, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:612281] -synonym: "ichthyosis, congenital, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:612281] -synonym: "ichthyosis, congenital, autosomal recessive, Nipal4-related" RELATED [OMIM:612281] +synonym: "autosomal recessive congenital ichthyosis type 6" EXACT [MONDORULE:1] +synonym: "ichthyosis, congenital, autosomal recessive 6" RELATED [MONDO:Lexical] +synonym: "ichthyosis, congenital, autosomal recessive type 6" EXACT [MONDORULE:1] +synonym: "ichthyosis, congenital, autosomal recessive, Nipal4-related" RELATED [] xref: DOID:0060715 {source="MONDO:equivalentTo"} xref: GARD:15547 {source="MONDO:GARD"} xref: ICD10CM:Q80.2 {source="DOID:0060715"} @@ -292942,7 +292993,7 @@ subset: gard_rare {source="GARD:15548", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CC2D2A Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Meckel syndrome 6" RELATED [DOID:0070120] +synonym: "Meckel syndrome 6" RELATED [] synonym: "Meckel syndrome caused by mutation in CC2D2A" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 6" EXACT [MONDO:Lexical, OMIM:612284] synonym: "Meckel-Gruber syndrome, type 6" EXACT [DOID:0070120] @@ -292970,11 +293021,11 @@ subset: gard_rare {source="GARD:15549", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CC2D2A Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "JBTS9" EXACT ABBREVIATION [DOID:0111004, MONDO:Lexical, OMIM:612285] -synonym: "Joubert syndrome 9" EXACT [MONDO:Lexical, OMIM:612285] -synonym: "Joubert syndrome 9/15, digenic" RELATED [OMIM:612285] +synonym: "JBTS9" EXACT ABBREVIATION [DOID:0111004, MONDO:Lexical, NCIT:C181002, OMIM:612285] +synonym: "Joubert syndrome 9" EXACT [DOID:0111004, MONDO:Lexical, NCIT:C181002, OMIM:612285] +synonym: "Joubert syndrome 9/15, digenic" RELATED [] synonym: "Joubert syndrome caused by mutation in CC2D2A" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 9" EXACT [DOID:0111004, MONDORULE:1, OMIM:612285] +synonym: "Joubert syndrome type 9" EXACT [MONDORULE:1] xref: DOID:0111004 {source="MONDO:equivalentTo"} xref: GARD:15549 {source="MONDO:GARD"} xref: MEDGEN:382940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -292995,10 +293046,10 @@ name: hypophosphatemic nephrolithiasis/osteoporosis 1 subset: gard_rare {source="GARD:18346", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hypophosphatemic nephrolithiasis/osteoporosis type 1" EXACT [DOID:0080077, MONDORULE:1] -synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 1" RELATED [MONDO:Lexical, OMIM:612286] -synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, type 1" EXACT [MONDORULE:1, OMIM:612286] -synonym: "NPHLOP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612286] +synonym: "hypophosphatemic nephrolithiasis/osteoporosis type 1" EXACT [MONDORULE:1] +synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 1" RELATED [MONDO:Lexical] +synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, type 1" EXACT [MONDORULE:1] +synonym: "NPHLOP1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080077 {source="MONDO:equivalentTo"} xref: GARD:18346 {source="MONDO:GARD"} xref: MEDGEN:436776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -293020,10 +293071,10 @@ name: hypophosphatemic nephrolithiasis/osteoporosis 2 subset: gard_rare {source="GARD:18347", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hypophosphatemic nephrolithiasis/osteoporosis type 2" EXACT [DOID:0080078, MONDORULE:1] -synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 2" RELATED [MONDO:Lexical, OMIM:612287] -synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, type 2" EXACT [MONDORULE:1, OMIM:612287] -synonym: "NPHLOP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612287] +synonym: "hypophosphatemic nephrolithiasis/osteoporosis type 2" EXACT [MONDORULE:1] +synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, 2" RELATED [MONDO:Lexical] +synonym: "nephrolithiasis/osteoporosis, hypophosphatemic, type 2" EXACT [MONDORULE:1] +synonym: "NPHLOP2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080078 {source="MONDO:equivalentTo"} xref: GARD:18347 {source="MONDO:GARD"} xref: MEDGEN:394127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -293044,8 +293095,8 @@ id: MONDO:0012852 name: inflammatory bowel disease 20 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24." [DOID:0110898, PMID:10053016] synonym: "IBD20" EXACT ABBREVIATION [DOID:0110898, MONDO:Lexical, OMIM:612288] -synonym: "inflammatory bowel disease 20" EXACT [MONDO:Lexical, OMIM:612288] -synonym: "inflammatory bowel disease type 20" EXACT [DOID:0110898, MONDORULE:2] +synonym: "inflammatory bowel disease 20" EXACT [DOID:0110898, MONDO:Lexical, OMIM:612288] +synonym: "inflammatory bowel disease type 20" EXACT [MONDORULE:2] xref: DOID:0110898 {source="MONDO:equivalentTo"} xref: MEDGEN:394126 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567361 {source="MONDO:equivalentTo"} @@ -293066,27 +293117,27 @@ subset: ordo_malformation_syndrome {source="Orphanet:2963", source="Orphanet:209 subset: orphanet_rare {source="Orphanet:2963", source="Orphanet:2095"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora" EXACT [OMIM:233500] +synonym: "craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora" EXACT [] synonym: "craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence" EXACT [OMIM:612289] synonym: "craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies" RELATED [GARD:0000066] synonym: "craniofacial dysostosis-genital, dental, cardiac anomalies syndrome" EXACT [Orphanet:2095] synonym: "cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome" EXACT [Orphanet:2095] -synonym: "dental and eye anomalies, patent ductus arteriosus, and normal intelligence" EXACT [OMIM:233500] +synonym: "dental and eye anomalies, patent ductus arteriosus, and normal intelligence" EXACT [] synonym: "dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome" EXACT [Orphanet:2095] synonym: "Fontaine progeroid syndrome" EXACT [OMIM:612289, Orphanet:2963] synonym: "FPS" EXACT ABBREVIATION [OMIM:612289] synonym: "GCM syndrome" EXACT [Orphanet:2095] -synonym: "GCMS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:233500] +synonym: "GCMS" EXACT ABBREVIATION [MONDO:Lexical] synonym: "Gorlin Chaudhry Moss syndrome" EXACT [GARD:0000066] -synonym: "Gorlin-Chaudhry-Moss Syndrome" EXACT [NORD:1201] -synonym: "Gorlin-Chaudhry-Moss syndrome" EXACT [MONDO:0009304, MONDO:Lexical, OMIM:233500] +synonym: "Gorlin-Chaudhry-Moss Syndrome" EXACT [NORD:1201, OMIM:612289, Orphanet:2095] +synonym: "Gorlin-Chaudhry-Moss syndrome" EXACT [MONDO:0009304, MONDO:Lexical, OMIM:612289, Orphanet:2095] synonym: "Petty Laxova Wiedemann syndrome" RELATED [GARD:0004497] synonym: "Petty syndrome" EXACT [Orphanet:2963] synonym: "Petty-Laxova-Wiedemann syndrome" EXACT [Orphanet:2963] synonym: "progeroid syndrome congenital Petty type" EXACT [GARD:0004497] synonym: "progeroid syndrome Petty type" EXACT [GARD:0004497] -synonym: "progeroid syndrome, congenital, Petty type" NARROW [OMIM:612289] -synonym: "progeroid syndrome, Petty type" EXACT [GARD:0004497] +synonym: "progeroid syndrome, congenital, Petty type" NARROW [] +synonym: "progeroid syndrome, Petty type" EXACT [GARD:0004497, Orphanet:2963] xref: GARD:4497 {source="MONDO:GARD"} xref: ICD10CM:E34.8 {source="Orphanet:2963", source="MONDO:mondoSubClassOfSource", source="Orphanet:2963/attributed", source="Orphanet:2963/ntbt"} xref: ICD10CM:Q87.0 {source="Orphanet:2095/ntbt", source="Orphanet:2095", source="Orphanet:2095/index"} @@ -293118,10 +293169,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:140963"} subset: orphanet_rare {source="Orphanet:140963"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "microtia with or without hearing impairment" RELATED [OMIM:612290] -synonym: "microtia with or without hearing impairment (AD)" EXACT [OMIM:612290, OMIM:genemap2] -synonym: "microtia, hearing impairment, and cleft palate" RELATED [OMIM:612290] -synonym: "microtia, hearing impairment, and cleft palate (AR)" EXACT [OMIM:612290, OMIM:genemap2] +synonym: "microtia with or without hearing impairment" RELATED [] +synonym: "microtia with or without hearing impairment (AD)" EXACT [] +synonym: "microtia, hearing impairment, and cleft palate" RELATED [] +synonym: "microtia, hearing impairment, and cleft palate (AR)" EXACT [] xref: GARD:16966 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:140963", source="Orphanet:140963/attributed", source="Orphanet:140963/ntbt"} xref: MEDGEN:382936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -293142,9 +293193,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARL13B Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS8" EXACT ABBREVIATION [DOID:0111003, MONDO:Lexical, OMIM:612291] -synonym: "Joubert syndrome 8" EXACT [MONDO:Lexical, OMIM:612291] +synonym: "Joubert syndrome 8" EXACT [DOID:0111003, MONDO:Lexical, OMIM:612291] synonym: "Joubert syndrome caused by mutation in ARL13B" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 8" EXACT [DOID:0111003, MONDORULE:1, OMIM:612291] +synonym: "Joubert syndrome type 8" EXACT [MONDORULE:1] xref: DOID:0111003 {source="MONDO:equivalentTo"} xref: GARD:15550 {source="MONDO:GARD"} xref: MEDGEN:436772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -293169,14 +293220,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Birk Barel intellectual disability dysmorphism syndrome" RELATED [GARD:0010358] synonym: "Birk Barel mental retardation dysmorphism syndrome" RELATED DEPRECATED [GARD:0010358] -synonym: "BIRK-Barel intellectual disability dysmorphism syndrome" EXACT [DOID:0050675, OMIM:612292] +synonym: "BIRK-Barel intellectual disability dysmorphism syndrome" EXACT [] synonym: "BIRK-Barel mental retardation dysmorphism syndrome" EXACT DEPRECATED [DOID:0050675, OMIM:612292] -synonym: "Birk-Barel syndrome" EXACT CLINGEN_LABEL [OMIM:612292] -synonym: "intellectual disability with hypotonia and Facial Dysmorphism" RELATED [OMIM:612292] -synonym: "intellectual disability, Birk-Barel type" RELATED [Orphanet:166108] +synonym: "Birk-Barel syndrome" EXACT CLINGEN_LABEL [DOID:0050675, OMIM:612292] +synonym: "intellectual disability with hypotonia and Facial Dysmorphism" RELATED [] +synonym: "intellectual disability, Birk-Barel type" RELATED [] synonym: "intellectual disability-hypotonia-facial dysmorphism syndrome" EXACT [Orphanet:166108] synonym: "KCNK9 Imprinting Syndrome" EXACT [NORD:1896] -synonym: "mental retardation with hypotonia and Facial Dysmorphism" RELATED DEPRECATED [OMIM:612292] +synonym: "mental retardation with hypotonia and Facial Dysmorphism" RELATED DEPRECATED [] xref: DOID:0050675 {source="MONDO:equivalentTo"} xref: GARD:10358 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:166108/attributed", source="Orphanet:166108/ntbt", source="Orphanet:166108"} @@ -293201,9 +293252,9 @@ subset: gard_rare {source="GARD:15551", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "POROK5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612293] -synonym: "porokeratosis 5, disseminated superficial actinic" EXACT [OMIM:612293, OMIM:genemap2] +synonym: "porokeratosis 5, disseminated superficial actinic" EXACT [] synonym: "porokeratosis 5, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:612293] -synonym: "porokeratosis, disseminated superficial actinic, 3" RELATED [OMIM:612293] +synonym: "porokeratosis, disseminated superficial actinic, 3" RELATED [] xref: GARD:15551 {source="MONDO:GARD"} xref: MEDGEN:382935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567356 {source="MONDO:equivalentTo"} @@ -293223,10 +293274,10 @@ subset: ordo_disorder {source="Orphanet:169464"} subset: orphanet_rare {source="Orphanet:169464"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CD59 deficiency" RELATED [OMIM:612300] -synonym: "HACD59" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612300] -synonym: "hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy" RELATED [MONDO:Lexical, OMIM:612300] -synonym: "primary CD59 deficiency" EXACT CLINGEN_LABEL [] +synonym: "CD59 deficiency" RELATED [] +synonym: "HACD59" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy" RELATED [MONDO:Lexical] +synonym: "primary CD59 deficiency" EXACT CLINGEN_LABEL [Orphanet:169464] xref: GARD:17054 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="Orphanet:169464", source="Orphanet:169464/attributed", source="Orphanet:169464/ntbt"} xref: MEDGEN:393582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -293257,10 +293308,10 @@ synonym: "osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [DOID: synonym: "osteopetrosis (disease) caused by mutation in TNFRSF11A" EXACT [] synonym: "osteopetrosis autosomal recessive 7" RELATED [GARD:0010106] synonym: "osteopetrosis osteoclast-poor with hypogammaglobulinemia" RELATED [GARD:0010106] -synonym: "osteopetrosis, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:612301] -synonym: "osteopetrosis, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:612301] -synonym: "osteopetrosis, osteoclast-poor, with hypogammaglobulinemia" RELATED [OMIM:612301] -synonym: "osteopetrosis-hypogammaglobulinemia syndrome" EXACT [DOID:0110946] +synonym: "osteopetrosis, autosomal recessive 7" RELATED [MONDO:Lexical] +synonym: "osteopetrosis, autosomal recessive type 7" EXACT [MONDORULE:1] +synonym: "osteopetrosis, osteoclast-poor, with hypogammaglobulinemia" RELATED [] +synonym: "osteopetrosis-hypogammaglobulinemia syndrome" EXACT [DOID:0110946, Orphanet:178389] synonym: "TNFRSF11A osteopetrosis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110946 {source="MONDO:equivalentTo"} xref: GARD:10106 {source="MONDO:GARD"} @@ -293291,11 +293342,11 @@ synonym: "autosomal recessive hereditary thrombophilia due to protein C deficien synonym: "autosomal recessive protein C deficiency" RELATED [GARD:0013041] synonym: "hereditary thrombophilia due to congenital protein C deficiency" RELATED [GARD:0013041] synonym: "hereditary thrombophilia due to PC deficiency" RELATED [GARD:0013041] -synonym: "Proc deficiency, autosomal recessive" RELATED [OMIM:612304] -synonym: "Protein C deficiency, autosomal recessive" RELATED [OMIM:612304] -synonym: "THPH4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612304] -synonym: "thrombophilia 3 due to protein C deficiency, autosomal recessive" EXACT [OMIM:612304, OMIM:genemap2] -synonym: "thrombophilia due to PROTEIN C deficiency, autosomal recessive" RELATED [OMIM:612304] +synonym: "Proc deficiency, autosomal recessive" RELATED [] +synonym: "Protein C deficiency, autosomal recessive" RELATED [] +synonym: "THPH4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thrombophilia 3 due to protein C deficiency, autosomal recessive" EXACT [] +synonym: "thrombophilia due to PROTEIN C deficiency, autosomal recessive" RELATED [] synonym: "thrombophilia due to protein C deficiency, autosomal recessive" EXACT CLINGEN_LABEL [GARD:0013041, MONDO:Lexical, OMIM:612304] xref: DOID:0111904 {source="MONDO:equivalentTo"} xref: GARD:13041 {source="MONDO:GARD"} @@ -293317,9 +293368,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FIGLA primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Pof6" RELATED [MONDO:Lexical, OMIM:612310] +synonym: "Pof6" RELATED [MONDO:Lexical] synonym: "premature ovarian failure 6" EXACT [MONDO:Lexical, OMIM:612310] -synonym: "premature ovarian failure type 6" EXACT [MONDORULE:1, OMIM:612310] +synonym: "premature ovarian failure type 6" EXACT [MONDORULE:1] synonym: "primary ovarian failure caused by mutation in FIGLA" EXACT [MONDO:design_pattern] xref: DOID:0080863 {source="MONDO:equivalentTo"} xref: MEDGEN:394115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -293339,8 +293390,8 @@ name: attention deficit-hyperactivity disorder, susceptibility to, 5 subset: predisposition synonym: "ADHD5" EXACT ABBREVIATION [OMIM:612311] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 5" EXACT [OMIM:612311] -synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612311] -synonym: "motor timing quantitative trait locus" RELATED [OMIM:612311] +synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 5" EXACT [MONDORULE:1] +synonym: "motor timing quantitative trait locus" RELATED [] xref: MEDGEN:394114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612311 {source="MONDO:equivalentTo"} xref: UMLS:C2676741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394114"} @@ -293356,8 +293407,8 @@ name: attention deficit-hyperactivity disorder, susceptibility to, 6 subset: predisposition synonym: "ADHD6" EXACT ABBREVIATION [OMIM:612312] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 6" EXACT [OMIM:612312] -synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612312] -synonym: "digit span quantitative trait locus" RELATED [OMIM:612312] +synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 6" EXACT [MONDORULE:1] +synonym: "digit span quantitative trait locus" RELATED [] xref: MEDGEN:393577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612312 {source="MONDO:equivalentTo"} xref: UMLS:C2676740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:393577"} @@ -293379,16 +293430,16 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:576283"} subset: orphanet_rare {source="Orphanet:251019"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "2q32-q33 microdeletion syndrome" EXACT [DOID:0060428, Orphanet:251019] -synonym: "2q32q33 microdeletion syndrome" EXACT [DOID:0060428] +synonym: "2q32-q33 microdeletion syndrome" EXACT [DOID:0060428] +synonym: "2q32q33 microdeletion syndrome" EXACT [DOID:0060428, Orphanet:251019] synonym: "2q32q33 microdeletion syndromes" RELATED [GARD:0013206] -synonym: "chromosome 2q32-q33 deletion syndrome" EXACT [OMIM:612313] +synonym: "chromosome 2q32-q33 deletion syndrome" EXACT [DOID:0060428, OMIM:612313] synonym: "Del(2)(q32)" EXACT [Orphanet:251019] synonym: "Del(2)(q32q33)" EXACT [Orphanet:251019] -synonym: "glass" RELATED [MONDO:Lexical, OMIM:612313] +synonym: "glass" RELATED [MONDO:Lexical] synonym: "glass syndrome" EXACT [DOID:0060428, MONDO:Lexical, OMIM:612313] synonym: "monosomy 2q32" EXACT [DOID:0060428, Orphanet:251019] -synonym: "monosomy 2q32-q33" EXACT [DOID:0060428, GARD:0013206, Orphanet:251019] +synonym: "monosomy 2q32-q33" EXACT [DOID:0060428, GARD:0013206] synonym: "monosomy 2q32q33" EXACT [DOID:0060428, Orphanet:251019] synonym: "SAS" RELATED ABBREVIATION [GARD:0013206] synonym: "SATB2 syndrome" RELATED [GARD:0013206] @@ -293415,11 +293466,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012865 name: Pseudofolliculitis barbae -synonym: "ingrown hairs" RELATED [OMIM:612318] -synonym: "PFB" RELATED ABBREVIATION [OMIM:612318] -synonym: "pili Incarnati" RELATED [OMIM:612318] -synonym: "Pseudofolliculitis barbae" EXACT [OMIM:612318] -synonym: "pseudofolliculitis barbae, susceptibility to" RELATED [OMIM:612318, OMIM:genemap2] +synonym: "ingrown hairs" RELATED [] +synonym: "PFB" RELATED ABBREVIATION [] +synonym: "pili Incarnati" RELATED [] +synonym: "Pseudofolliculitis barbae" EXACT [ICD10CM:L73.1, icd11.foundation:336055701, OMIM:612318] +synonym: "pseudofolliculitis barbae, susceptibility to" RELATED [] xref: ICD10CM:L73.1 {source="MONDO:equivalentTo"} xref: icd11.foundation:336055701 {source="MONDO:equivalentTo"} xref: MEDGEN:107807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -293441,16 +293492,16 @@ subset: orphanet_rare {source="Orphanet:171629"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 35" EXACT [DOID:0110786] -synonym: "autosomal recessive spastic paraplegia type 35" EXACT [DOID:0110786] +synonym: "autosomal recessive spastic paraplegia type 35" EXACT [DOID:0110786, Orphanet:171629] synonym: "FA2H hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "FAHN" RELATED EXCLUDE [DOID:0110786] -synonym: "fatty acid hydroxylase-associated neurodegeneration" RELATED EXCLUDE [DOID:0110786] -synonym: "hereditary spastic paraplegia 35" EXACT CLINGEN_LABEL [] +synonym: "FAHN" RELATED EXCLUDE [] +synonym: "fatty acid hydroxylase-associated neurodegeneration" RELATED EXCLUDE [] +synonym: "hereditary spastic paraplegia 35" EXACT CLINGEN_LABEL [DOID:0110786] synonym: "hereditary spastic paraplegia caused by mutation in FA2H" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 35" EXACT [DOID:0110786, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 35" EXACT [MONDORULE:2] synonym: "leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia" EXACT [DOID:0110786] -synonym: "leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia" RELATED [OMIM:612319] -synonym: "spastic paraplegia 35, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612319] +synonym: "leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia" RELATED [] +synonym: "spastic paraplegia 35, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG35" EXACT ABBREVIATION [DOID:0110786, MONDO:Lexical, OMIM:612319, Orphanet:171629] xref: DOID:0110786 {source="MONDO:equivalentTo"} xref: GARD:10538 {source="MONDO:GARD"} @@ -293478,9 +293529,9 @@ subset: orphanet_rare {source="Orphanet:171617"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 38" EXACT [DOID:0110789] -synonym: "autosomal dominant spastic paraplegia type 38" EXACT [DOID:0110789] -synonym: "hereditary spastic paraplegia type 38" EXACT [DOID:0110789, MONDORULE:2] -synonym: "spastic paraplegia 38, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612335] +synonym: "autosomal dominant spastic paraplegia type 38" EXACT [DOID:0110789, Orphanet:171617] +synonym: "hereditary spastic paraplegia type 38" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 38, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG38" EXACT ABBREVIATION [DOID:0110789, MONDO:Lexical, OMIM:612335, Orphanet:171617] xref: DOID:0110789 {source="MONDO:equivalentTo"} xref: GARD:17065 {source="MONDO:GARD"} @@ -293506,9 +293557,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant hereditary thrombophilia due to congenital protein S deficiency" EXACT [MONDO:design_pattern] synonym: "hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/autosomal_dominant] -synonym: "protein S acquired deficiency" RELATED [Orphanet:26349] -synonym: "THPH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612336] -synonym: "thrombophilia 5 due to protein S deficiency, autosomal dominant" EXACT [OMIM:612336, OMIM:genemap2] +synonym: "protein S acquired deficiency" RELATED [] +synonym: "THPH5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thrombophilia 5 due to protein S deficiency, autosomal dominant" EXACT [] synonym: "thrombophilia due to protein S deficiency, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612336] xref: DOID:0111900 {source="MONDO:equivalentTo"} xref: GARD:18568 {source="MONDO:GARD"} @@ -293536,16 +293587,16 @@ def: "Any autosomal dominant non-syndromic intellectual disability in which the subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant intellectual disability 22" EXACT [DOID:0070052] +synonym: "autosomal dominant intellectual disability 22" EXACT [] synonym: "autosomal dominant mental retardation 22" EXACT DEPRECATED [DOID:0070052] -synonym: "autosomal dominant non-syndromic intellectual disability 22" RELATED [DOID:0070052] +synonym: "autosomal dominant non-syndromic intellectual disability 22" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18" EXACT [MONDO:design_pattern] -synonym: "chromosome 1Q43-q44 deletion syndrome" RELATED [OMIM:612337] -synonym: "chromosome 1Qter deletion syndrome" RELATED [OMIM:612337] -synonym: "intellectual disability, autosomal dominant 22" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612337] -synonym: "intellectual disability, autosomal dominant type 22" EXACT [MONDORULE:2, OMIM:612337] -synonym: "mental retardation, autosomal dominant 22" RELATED DEPRECATED [MONDO:Lexical, OMIM:612337] -synonym: "mental retardation, autosomal dominant type 22" EXACT DEPRECATED [MONDORULE:2, OMIM:612337] +synonym: "chromosome 1Q43-q44 deletion syndrome" RELATED [] +synonym: "chromosome 1Qter deletion syndrome" RELATED [] +synonym: "intellectual disability, autosomal dominant 22" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 22" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 22" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 22" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD22" EXACT ABBREVIATION [DOID:0070052, MONDO:Lexical, OMIM:612337] synonym: "ZBTB18 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070052 {source="MONDO:equivalentTo"} @@ -293564,7 +293615,7 @@ name: chromosome 2q31.2 deletion syndrome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "chromosome 2q31.2 deletion syndrome" EXACT [OMIM:612345] +synonym: "chromosome 2q31.2 deletion syndrome" EXACT [DOID:0060416, OMIM:612345] xref: DOID:0060416 {source="MONDO:equivalentTo"} xref: MEDGEN:394109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567344 {source="MONDO:equivalentTo"} @@ -293586,8 +293637,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Jervell and Lange-Nielsen syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612347] synonym: "Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1" EXACT [MONDO:design_pattern] -synonym: "Jervell and Lange-Nielsen syndrome type 2" EXACT [MONDORULE:1, OMIM:612347] -synonym: "JLNS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612347] +synonym: "Jervell and Lange-Nielsen syndrome type 2" EXACT [MONDORULE:1] +synonym: "JLNS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "KCNE1 Jervell and Lange-Nielsen syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:10364 {source="MONDO:GARD"} xref: MEDGEN:394108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -293610,10 +293661,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hyperfibrinolysis, familial, due to increased release of plat" EXACT [OMIM:612348, OMIM:genemap2] -synonym: "hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator" RELATED [OMIM:612348] -synonym: "THPH9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612348] -synonym: "thrombophilia, familial, due to decreased release of PLAT" EXACT [OMIM:612348, OMIM:genemap2] +synonym: "hyperfibrinolysis, familial, due to increased release of plat" EXACT [] +synonym: "hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator" RELATED [] +synonym: "THPH9" EXACT ABBREVIATION [DOID:0111906, MONDO:Lexical, OMIM:612348] +synonym: "thrombophilia, familial, due to decreased release of PLAT" EXACT [] synonym: "thrombophilia, familial, due to decreased release of tissue plasminogen activator" EXACT [MONDO:Lexical, OMIM:612348] xref: DOID:0111906 {source="MONDO:equivalentTo"} xref: MEDGEN:393574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -293635,11 +293686,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:157965"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EDS, spondylocheirodysplastic type" EXACT [Orphanet:157965] -synonym: "EDSSPD3" RELATED ABBREVIATION [OMIM:612350] -synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 3" RELATED [OMIM:612350] -synonym: "SCD-EDS" RELATED [OMIM:612350] -synonym: "spondylocheirodysplasia, Ehlers-Danlos syndrome-like" RELATED [OMIM:612350] +synonym: "EDS, spondylocheirodysplastic type" EXACT [] +synonym: "EDSSPD3" RELATED ABBREVIATION [] +synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 3" RELATED [] +synonym: "SCD-EDS" RELATED [] +synonym: "spondylocheirodysplasia, Ehlers-Danlos syndrome-like" RELATED [] xref: DOID:0080739 {source="MONDO:equivalentTo"} xref: GARD:12610 {source="MONDO:GARD"} xref: ICD10CM:Q79.6 {source="Orphanet:157965", source="Orphanet:157965/attributed", source="Orphanet:157965/ntbt"} @@ -293662,10 +293713,10 @@ subset: gard_rare {source="GARD:15552", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "POROK6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612353] -synonym: "porokeratosis 6, disseminated superficial" RELATED [OMIM:612353] -synonym: "porokeratosis 6, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:612353] -synonym: "porokeratosis 6, multiple types" RELATED [OMIM:612353] -synonym: "porokeratosis, disseminated superficial actinic, 4" RELATED [OMIM:612353] +synonym: "porokeratosis 6, disseminated superficial" RELATED [] +synonym: "porokeratosis 6, disseminated superficial actinic type" EXACT [MONDO:Lexical] +synonym: "porokeratosis 6, multiple types" RELATED [] +synonym: "porokeratosis, disseminated superficial actinic, 4" RELATED [] xref: GARD:15552 {source="MONDO:GARD"} xref: MEDGEN:394063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567339 {source="MONDO:equivalentTo"} @@ -293680,8 +293731,8 @@ id: MONDO:0012875 name: inflammatory bowel disease 21 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11." [DOID:0110906, PMID:17554261] synonym: "IBD21" EXACT ABBREVIATION [DOID:0110906, MONDO:Lexical, OMIM:612354] -synonym: "inflammatory bowel disease 21" EXACT [MONDO:Lexical, OMIM:612354] -synonym: "inflammatory bowel disease type 21" EXACT [DOID:0110906, MONDORULE:2] +synonym: "inflammatory bowel disease 21" EXACT [DOID:0110906, MONDO:Lexical, OMIM:612354] +synonym: "inflammatory bowel disease type 21" EXACT [MONDORULE:2] xref: DOID:0110906 {source="MONDO:equivalentTo"} xref: MEDGEN:436705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567338 {source="MONDO:equivalentTo"} @@ -293699,12 +293750,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Hcf 2 deficiency" RELATED [OMIM:612356] -synonym: "Hcf2 deficiency" RELATED [OMIM:612356] -synonym: "heparin cofactor 2 deficiency" EXACT CLINGEN_LABEL [] -synonym: "heparin cofactor II deficiency" RELATED [OMIM:612356] -synonym: "thrombophilia 10 due to heparin cofactor II deficiency" EXACT [OMIM:612356, OMIM:genemap2] -synonym: "thrombophilia due to heparin cofactor 2 deficiency" RELATED [OMIM:612356] +synonym: "Hcf 2 deficiency" RELATED [] +synonym: "Hcf2 deficiency" RELATED [] +synonym: "heparin cofactor 2 deficiency" EXACT CLINGEN_LABEL [OMIM:612356] +synonym: "heparin cofactor II deficiency" RELATED [] +synonym: "thrombophilia 10 due to heparin cofactor II deficiency" EXACT [] +synonym: "thrombophilia due to heparin cofactor 2 deficiency" RELATED [] xref: DOID:0111901 {source="MONDO:equivalentTo"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:96017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -293721,11 +293772,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012877 name: major affective disorder 8 -synonym: "bipolar affective disorder" RELATED [OMIM:612357] +synonym: "bipolar affective disorder" RELATED [] synonym: "MAFD8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612357] -synonym: "MAJOR affective disorder 8" RELATED [OMIM:612357] +synonym: "MAJOR affective disorder 8" RELATED [] synonym: "major affective disorder 8" EXACT [OMIM:612357] -synonym: "major affective disorder-8, susceptibility to" EXACT [OMIM:612357, OMIM:genemap2] +synonym: "major affective disorder-8, susceptibility to" EXACT [] xref: MEDGEN:397794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567530 {source="MONDO:equivalentTo"} xref: OMIM:612357 {source="MONDO:equivalentTo"} @@ -293741,9 +293792,9 @@ def: "Any Cowden disease in which the cause of the disease is a mutation in the subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Cowden disease caused by mutation in SDHB" EXACT [MONDO:design_pattern] -synonym: "Cowden syndrome 2" EXACT [MONDO:Lexical, OMIM:612359] -synonym: "Cowden syndrome type 2" EXACT [MONDORULE:1, OMIM:612359] -synonym: "CWS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612359] +synonym: "Cowden syndrome 2" EXACT [MONDO:Lexical] +synonym: "Cowden syndrome type 2" EXACT [MONDORULE:1] +synonym: "CWS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SDHB Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MESH:C567337 {source="MONDO:equivalentTo"} xref: OMIM:612359 {source="MONDO:equivalentObsolete"} @@ -293758,12 +293809,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012879 name: schizophrenia 14 def: "A schizophrenia that has material basis in a mutation on chromosome 2q32.1." [DOID:0070090] -synonym: "schizophrenia 14" EXACT [OMIM:612361] -synonym: "schizophrenia susceptibility locus, chromosome 2Q32-related" RELATED [OMIM:612361] -synonym: "schizophrenia type 14" EXACT [MONDORULE:2, OMIM:612361] -synonym: "schizophrenia, susceptibility to, 14" EXACT [OMIM:612361, OMIM:genemap2] -synonym: "SCZD14" EXACT ABBREVIATION [DOID:0070090] -synonym: "Sczd14" RELATED [OMIM:612361] +synonym: "schizophrenia 14" EXACT [DOID:0070090, OMIM:612361] +synonym: "schizophrenia susceptibility locus, chromosome 2Q32-related" RELATED [] +synonym: "schizophrenia type 14" EXACT [MONDORULE:2] +synonym: "schizophrenia, susceptibility to, 14" EXACT [] +synonym: "SCZD14" EXACT ABBREVIATION [DOID:0070090, OMIM:612361] +synonym: "Sczd14" RELATED [] xref: DOID:0070090 {source="MONDO:equivalentTo"} xref: MEDGEN:436991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612361 {source="MONDO:equivalentTo", source="DOID:0070090"} @@ -293782,8 +293833,8 @@ subset: gard_rare {source="GARD:10773", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CHD7 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HH5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612370] -synonym: "hypogonadotropic hypogonadism 5 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612370] +synonym: "HH5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 5 with or without anosmia" EXACT [DOID:0090084, MONDO:Lexical, OMIM:612370] synonym: "hypogonadotropic hypogonadism caused by mutation in CHD7" EXACT [MONDO:design_pattern] synonym: "KAL5" NARROW ABBREVIATION [GARD:0010773] synonym: "Kallmann syndrome 5" RELATED [GARD:0010773] @@ -293802,11 +293853,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10773/kallma [Term] id: MONDO:0012881 name: major affective disorder 7 -synonym: "bipolar affective disorder" RELATED [OMIM:612371] -synonym: "MAFD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612371] +synonym: "bipolar affective disorder" RELATED [] +synonym: "MAFD7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "major affective disorder 7" EXACT [MONDO:Lexical, OMIM:612371] -synonym: "major affective disorder type 7" EXACT [MONDORULE:1, OMIM:612371] -synonym: "major affective disorder-7, susceptibility to" EXACT [OMIM:612371, OMIM:genemap2] +synonym: "major affective disorder type 7" EXACT [MONDORULE:1] +synonym: "major affective disorder-7, susceptibility to" EXACT [] xref: MEDGEN:438008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567529 {source="MONDO:equivalentTo"} xref: OMIM:612371 {source="MONDO:equivalentTo"} @@ -293821,11 +293872,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012882 name: major affective disorder 9 -synonym: "bipolar affective disorder" RELATED [OMIM:612372] +synonym: "bipolar affective disorder" RELATED [] synonym: "MAFD9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612372] -synonym: "MAJOR affective disorder 9" RELATED [OMIM:612372] +synonym: "MAJOR affective disorder 9" RELATED [] synonym: "major affective disorder 9" EXACT [OMIM:612372] -synonym: "major affective disorder-9, susceptibility to" EXACT [OMIM:612372, OMIM:genemap2] +synonym: "major affective disorder-9, susceptibility to" EXACT [] xref: MEDGEN:398108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567531 {source="MONDO:equivalentTo"} xref: OMIM:612372 {source="MONDO:equivalentTo"} @@ -293845,30 +293896,30 @@ subset: orphanet_rare {source="Orphanet:520"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute myeloblastic leukaemia 3" EXACT OMO:0003005 [] -synonym: "acute myeloblastic leukaemia type 3" EXACT OMO:0003005 [] +synonym: "acute myeloblastic leukaemia type 3" EXACT OMO:0003005 [DOID:0060318] synonym: "acute myeloblastic leukemia 3" EXACT [Orphanet:520] synonym: "acute myeloblastic leukemia type 3" EXACT [DOID:0060318] -synonym: "acute myeloid leukaemia M3" EXACT OMO:0003005 [] +synonym: "acute myeloid leukaemia M3" EXACT OMO:0003005 [DOID:0060318] synonym: "acute myeloid leukaemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia M3" EXACT [DOID:0060318] synonym: "acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT [Orphanet:520] synonym: "acute promyelocytic leukaemia with PML-rara" EXACT OMO:0003005 [] synonym: "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-rara" EXACT OMO:0003005 [] synonym: "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML/rara" EXACT OMO:0003005 [] -synonym: "acute promyelocytic leukemia" EXACT [MONDO:Lexical, OMIM:612376] -synonym: "acute promyelocytic leukemia with PML-rara" EXACT [NCIT:C3182] +synonym: "acute promyelocytic leukemia" EXACT [DOID:0060318, MONDO:Lexical, NCIT:C3182, OMIM:612376, Orphanet:520] +synonym: "acute promyelocytic leukemia with PML-rara" EXACT [DOID:0081081, NCIT:C3182] synonym: "acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara" EXACT [NCIT:C3182] synonym: "acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara" EXACT [NCIT:C3182] synonym: "AML M3" EXACT [Orphanet:520] -synonym: "AML with t(15;17)(q22;q12)" EXACT [NCIT:C3182] +synonym: "AML with t(15;17)(q22;q12)" EXACT [] synonym: "AML with t(15;17)(q22;q12);(PML/RARalpha) and variants" EXACT [Orphanet:520] -synonym: "APL" EXACT ABBREVIATION [DOID:0060318, MONDO:Lexical, OMIM:612376] -synonym: "APML" EXACT ABBREVIATION [Orphanet:520] +synonym: "APL" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3182, OMIM:612376] +synonym: "APML" EXACT ABBREVIATION [NCIT:C3182, Orphanet:520] synonym: "APML - acute promyelocytic leukaemia" EXACT OMO:0003005 [] synonym: "APML - acute promyelocytic leukemia" EXACT [NCIT:C3182] synonym: "FAB M3" EXACT [NCIT:C3182] -synonym: "leukemia, acute promyelocytic" RELATED [OMIM:612376] -synonym: "leukemia, acute promyelocytic, somatic" EXACT [OMIM:612376, OMIM:genemap2] +synonym: "leukemia, acute promyelocytic" RELATED [] +synonym: "leukemia, acute promyelocytic, somatic" EXACT [] synonym: "promyelocytic leukaemia" EXACT OMO:0003005 [] synonym: "promyelocytic leukemia" EXACT [NCIT:C3182] xref: DOID:0060318 {source="EFO:0000224", source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -293918,16 +293969,16 @@ subset: ordo_disorder {source="Orphanet:324737"} subset: orphanet_rare {source="Orphanet:324737"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDG Iq" RELATED [OMIM:612379] +synonym: "CDG Iq" RELATED [] synonym: "CDG syndrome type Iq" EXACT [Orphanet:324737] synonym: "CDG-Iq" EXACT [Orphanet:324737] synonym: "CDG1Q" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612379, Orphanet:324737] synonym: "CDGIq" RELATED [GARD:0012397] -synonym: "coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities" RELATED [OMIM:612379] +synonym: "coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities" RELATED [] synonym: "congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency" RELATED [GARD:0012397] synonym: "congenital disorder of glycosylation type 1q" EXACT [Orphanet:324737] synonym: "congenital disorder of glycosylation type Iq" EXACT [Orphanet:324737] -synonym: "congenital disorder of glycosylation, type Iq" RELATED [MONDO:Lexical, OMIM:612379] +synonym: "congenital disorder of glycosylation, type Iq" RELATED [MONDO:Lexical] synonym: "SRD5A3-CDG" EXACT ABBREVIATION [Orphanet:324737] synonym: "SRD5A3-CDG (CDG-Iq)" RELATED [GARD:0012397] synonym: "SRD5A3-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] @@ -293955,8 +294006,8 @@ id: MONDO:0012886 name: inflammatory bowel disease 22 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2." [DOID:0110905, PMID:18438405] synonym: "IBD22" EXACT ABBREVIATION [DOID:0110905, MONDO:Lexical, OMIM:612380] -synonym: "inflammatory bowel disease 22" EXACT [MONDO:Lexical, OMIM:612380] -synonym: "inflammatory bowel disease type 22" EXACT [DOID:0110905, MONDORULE:2] +synonym: "inflammatory bowel disease 22" EXACT [DOID:0110905, MONDO:Lexical, OMIM:612380] +synonym: "inflammatory bowel disease type 22" EXACT [MONDORULE:2] xref: DOID:0110905 {source="MONDO:equivalentTo"} xref: MEDGEN:382862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567327 {source="MONDO:equivalentTo"} @@ -293971,8 +294022,8 @@ id: MONDO:0012887 name: inflammatory bowel disease 23 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1." [DOID:0110884, PMID:15937090, PMID:18587394] synonym: "IBD23" EXACT ABBREVIATION [DOID:0110884, MONDO:Lexical, OMIM:612381] -synonym: "inflammatory bowel disease 23" EXACT [MONDO:Lexical, OMIM:612381] -synonym: "inflammatory bowel disease type 23" EXACT [DOID:0110884, MONDORULE:2] +synonym: "inflammatory bowel disease 23" EXACT [DOID:0110884, MONDO:Lexical, OMIM:612381] +synonym: "inflammatory bowel disease type 23" EXACT [MONDORULE:2] xref: DOID:0110884 {source="MONDO:equivalentTo"} xref: MEDGEN:382861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567326 {source="MONDO:equivalentTo"} @@ -293990,9 +294041,9 @@ subset: predisposition synonym: "BTNL2 sarcoidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "sarcoidosis caused by mutation in BTNL2" EXACT [MONDO:design_pattern] synonym: "sarcoidosis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612387] -synonym: "sarcoidosis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612387] -synonym: "SS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612387] -synonym: "susceptibility to sarcoidosis 2" RELATED [OMIM:612387] +synonym: "sarcoidosis, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "SS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to sarcoidosis 2" RELATED [] xref: MEDGEN:436694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612387 {source="MONDO:equivalentTo"} xref: Orphanet:797 {source="OMIM:612387"} @@ -294024,9 +294075,9 @@ subset: gard_rare {source="GARD:15553", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2" EXACT [MONDO:design_pattern] -synonym: "PCH2B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612389] -synonym: "pontocerebellar hypoplasia type 2B" EXACT CLINGEN_LABEL [] -synonym: "pontocerebellar hypoplasia, type 2B" RELATED [MONDO:Lexical, OMIM:612389] +synonym: "PCH2B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pontocerebellar hypoplasia type 2B" EXACT CLINGEN_LABEL [DOID:0060268] +synonym: "pontocerebellar hypoplasia, type 2B" RELATED [MONDO:Lexical] synonym: "TSEN2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060268 {source="MONDO:equivalentTo"} xref: GARD:15553 {source="MONDO:GARD"} @@ -294049,8 +294100,8 @@ subset: gard_rare {source="GARD:15554", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34" EXACT [MONDO:design_pattern] -synonym: "PCH2C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612390] -synonym: "pontocerebellar hypoplasia, type 2C" RELATED [MONDO:Lexical, OMIM:612390] +synonym: "PCH2C" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pontocerebellar hypoplasia, type 2C" RELATED [MONDO:Lexical] synonym: "TSEN34 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060269 {source="MONDO:equivalentTo"} xref: GARD:15554 {source="MONDO:GARD"} @@ -294075,12 +294126,12 @@ subset: ordo_disorder {source="Orphanet:300284"} subset: orphanet_rare {source="Orphanet:300284"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone fragility with contractures, arterial rupture, and deafness" EXACT [OMIM:612394] +synonym: "bone fragility with contractures, arterial rupture, and deafness" EXACT [] synonym: "bone fragility-contractures-arterial rupture-deafness syndrome" EXACT [Orphanet:300284] synonym: "connective tissue disorder due to LH3 deficiency" EXACT [Orphanet:300284] synonym: "connective tissue disorder due to lysyl hydroxylase-3 deficiency" EXACT CLINGEN_LABEL [Orphanet:300284] -synonym: "LH3 deficiency" RELATED [OMIM:612394] -synonym: "lysyl Hydroxylase 3 deficiency" RELATED [OMIM:612394] +synonym: "LH3 deficiency" RELATED [] +synonym: "lysyl Hydroxylase 3 deficiency" RELATED [] xref: GARD:17362 {source="MONDO:GARD"} xref: MEDGEN:382811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567320 {source="MONDO:equivalentTo"} @@ -294098,12 +294149,12 @@ name: osteoarthritis susceptibility 5 def: "Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "GDF5 osteoarthritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "OS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612400] +synonym: "OS5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "osteoarthritis caused by mutation in GDF5" EXACT [MONDO:design_pattern] -synonym: "osteoarthritis of hip" RELATED [OMIM:612400] +synonym: "osteoarthritis of hip" RELATED [] synonym: "osteoarthritis susceptibility 5" EXACT [MONDO:Lexical, OMIM:612400] -synonym: "osteoarthritis susceptibility type 5" EXACT [MONDORULE:1, OMIM:612400] -synonym: "osteoarthritis-5" EXACT [OMIM:612400, OMIM:genemap2] +synonym: "osteoarthritis susceptibility type 5" EXACT [MONDORULE:1] +synonym: "osteoarthritis-5" EXACT [] xref: MEDGEN:1674605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612400 {source="MONDO:equivalentTo"} xref: SCTID:239872002 {source="MONDO:equivalentTo"} @@ -294118,7 +294169,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012894 name: osteoarthritis susceptibility 6 synonym: "OS6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612401] -synonym: "osteoarthritis of knee" RELATED [OMIM:612401] +synonym: "osteoarthritis of knee" RELATED [] synonym: "osteoarthritis susceptibility 6" EXACT [MONDO:Lexical, OMIM:612401] xref: ICD9:715.96 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: OMIM:612401 {source="MONDO:equivalentTo"} @@ -294137,11 +294188,11 @@ subset: ordo_disorder {source="Orphanet:370103"} subset: orphanet_rare {source="Orphanet:370103"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dystonia 17, torsion, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612406] -synonym: "dystonia-17, primary torsion" EXACT [OMIM:612406, OMIM:genemap2] -synonym: "DYT17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612406] -synonym: "primary dystonia, DYT17 type" RELATED [Orphanet:370103] -synonym: "torsion dystonia type 17" EXACT [DOID:0090042, MONDORULE:2] +synonym: "dystonia 17, torsion, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "dystonia-17, primary torsion" EXACT [] +synonym: "DYT17" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "primary dystonia, DYT17 type" RELATED [] +synonym: "torsion dystonia type 17" EXACT [MONDORULE:2] xref: DOID:0090042 {source="MONDO:equivalentTo"} xref: GARD:10536 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="DOID:0090042", source="Orphanet:370103/attributed", source="Orphanet:370103/ntbt", source="Orphanet:370103"} @@ -294159,8 +294210,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012896 name: psoriasis 10, susceptibility to synonym: "psoriasis 10, susceptibility to" EXACT [MONDO:Lexical, OMIM:612410] -synonym: "psoriasis susceptibility 10" EXACT [OMIM:612410, OMIM:genemap2] -synonym: "PSORS10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612410] +synonym: "psoriasis susceptibility 10" EXACT [] +synonym: "PSORS10" EXACT ABBREVIATION [DOID:0111289, MONDO:Lexical, OMIM:612410] xref: DOID:0111289 {source="MONDO:equivalentTo"} xref: MEDGEN:854730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612410 {source="MONDO:equivalentTo"} @@ -294182,21 +294233,21 @@ subset: ordo_disorder {source="Orphanet:329"} subset: orphanet_rare {source="Orphanet:329"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital factor XI deficiency" EXACT CLINGEN_LABEL [DOID:2229, ICD9CM:286.2] -synonym: "F11 deficiency" RELATED [OMIM:612416] -synonym: "factor 11 deficiency" RELATED [OMIM:612416] -synonym: "factor XI deficiency" RELATED [OMIM:612416] -synonym: "factor XI deficiency, autosomal dominant" EXACT [OMIM:612416, OMIM:genemap2] -synonym: "factor XI deficiency, autosomal recessive" EXACT [OMIM:612416, OMIM:genemap2] -synonym: "haemophilia C" EXACT OMO:0003005 [] -synonym: "hemophilia C" EXACT [DOID:2229, Orphanet:329] +synonym: "congenital factor XI deficiency" EXACT CLINGEN_LABEL [DOID:2229, icd11.foundation:413739466, ICD9CM:286.2, Orphanet:329] +synonym: "F11 deficiency" RELATED [] +synonym: "factor 11 deficiency" RELATED [] +synonym: "factor XI deficiency" RELATED [] +synonym: "factor XI deficiency, autosomal dominant" EXACT [] +synonym: "factor XI deficiency, autosomal recessive" EXACT [] +synonym: "haemophilia C" EXACT OMO:0003005 [icd11.foundation:413739466] +synonym: "hemophilia C" EXACT [DOID:2229, NCIT:C84705, Orphanet:329] synonym: "hereditary Factor XI deficiency" EXACT [NCIT:C84705] -synonym: "hereditary factor XI deficiency" EXACT [MONDO:patterns/hereditary] -synonym: "hereditary factor XI deficiency disease" EXACT [DOID:2229] -synonym: "plasma thromboplastin antecedent deficiency" EXACT [DOID:2229, Orphanet:329] +synonym: "hereditary factor XI deficiency" EXACT [MONDO:patterns/hereditary, NCIT:C84705] +synonym: "hereditary factor XI deficiency disease" EXACT [DOID:2229, icd11.foundation:413739466, NCIT:C84705] +synonym: "plasma thromboplastin antecedent deficiency" EXACT [DOID:2229, icd11.foundation:413739466, OMIM:612416, Orphanet:329] synonym: "PTA deficiency" EXACT [OMIM:612416, Orphanet:329] -synonym: "Rosenthal factor deficiency" EXACT [Orphanet:329] -synonym: "Rosenthal syndrome" EXACT [OMIM:612416, Orphanet:329] +synonym: "Rosenthal factor deficiency" EXACT [icd11.foundation:413739466, Orphanet:329] +synonym: "Rosenthal syndrome" EXACT [icd11.foundation:413739466, OMIM:612416, Orphanet:329] synonym: "Rosenthal's disease" EXACT [DOID:2229] xref: DOID:2229 {source="MONDO:equivalentTo"} xref: GARD:9670 {source="MONDO:GARD"} @@ -294228,7 +294279,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9670/factor- id: MONDO:0012898 name: narcolepsy 4, susceptibility to subset: predisposition -synonym: "narcolepsy 4" RELATED [OMIM:612417, OMIM:genemap2] +synonym: "narcolepsy 4" RELATED [] synonym: "narcolepsy 4, susceptibility to" EXACT [OMIM:612417] synonym: "NRCLP4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612417] xref: MEDGEN:391001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -294263,9 +294314,9 @@ subset: gard_rare {source="GARD:18072", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy, familial restrictive, 3" EXACT [MONDO:Lexical, OMIM:612422] -synonym: "cardiomyopathy, familial restrictive, type 3" EXACT [MONDORULE:1, OMIM:612422] +synonym: "cardiomyopathy, familial restrictive, type 3" EXACT [MONDORULE:1] synonym: "familial isolated restrictive cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern] -synonym: "RCM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612422] +synonym: "RCM3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TNNT2 familial isolated restrictive cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111427 {source="MONDO:equivalentTo"} xref: GARD:18072 {source="MONDO:GARD"} @@ -294289,11 +294340,11 @@ subset: orphanet_rare {source="Orphanet:749"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital prekallikrein deficiency" EXACT [Orphanet:749] -synonym: "fletcher factor (prekallikrein) deficiency" EXACT [OMIM:612423, OMIM:genemap2] -synonym: "Fletcher Factor deficiency" RELATED [OMIM:612423] +synonym: "fletcher factor (prekallikrein) deficiency" EXACT [] +synonym: "Fletcher Factor deficiency" RELATED [] synonym: "hereditary prekallikrein deficiency" EXACT [MONDO:patterns/hereditary] -synonym: "PKK deficiency" RELATED [OMIM:612423] -synonym: "prekallikrein deficiency" RELATED [OMIM:612423] +synonym: "PKK deficiency" RELATED [] +synonym: "prekallikrein deficiency" RELATED [] synonym: "prekallikrein deficiency, congenital" RELATED [GARD:0004477] xref: GARD:4477 {source="MONDO:GARD"} xref: ICD10CM:D68.8 {source="Orphanet:749", source="Orphanet:749/attributed", source="Orphanet:749/ntbt"} @@ -294318,11 +294369,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18128", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 27" NARROW [DOID:0110556] -synonym: "autosomal dominant nonsyndromic deafness 27" NARROW [OMIM:612431] -synonym: "autosomal dominant nonsyndromic deafness type 27" NARROW [DOID:0110556, MONDORULE:2] -synonym: "deafness, autosomal dominant 27" NARROW [MONDO:Lexical, OMIM:612431, OMIM:genemap2] -synonym: "DFNA27" NARROW ABBREVIATION [DOID:0110556, MONDO:Lexical, OMIM:612431] +synonym: "autosomal dominant deafness 27" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 27" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 27" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 27" NARROW [MONDO:Lexical] +synonym: "DFNA27" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110556 {source="MONDO:equivalentTo"} xref: GARD:18128 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110556"} @@ -294341,11 +294392,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22628", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 45" NARROW [DOID:0110502] -synonym: "autosomal recessive nonsyndromic deafness 45" NARROW [OMIM:612433] -synonym: "autosomal recessive nonsyndromic deafness type 45" NARROW [DOID:0110502, MONDORULE:2] -synonym: "deafness, autosomal recessive 45" NARROW [MONDO:Lexical, OMIM:612433, OMIM:genemap2] -synonym: "DFNB45" NARROW ABBREVIATION [DOID:0110502, MONDO:Lexical, OMIM:612433] +synonym: "autosomal recessive deafness 45" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 45" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 45" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 45" NARROW [MONDO:Lexical] +synonym: "DFNB45" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110502 {source="MONDO:equivalentTo"} xref: GARD:22628 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110502"} @@ -294363,10 +294414,10 @@ def: "Any progressive myoclonic epilepsy in which the cause of the disease is a subset: gard_rare {source="GARD:15556", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "epilepsy, progressive myoclonic 1B" EXACT [OMIM:612437, OMIM:genemap2] +synonym: "epilepsy, progressive myoclonic 1B" EXACT [] synonym: "epilepsy, progressive myoclonic, 1B" EXACT [MONDO:Lexical, OMIM:612437] -synonym: "epilepsy, progressive myoclonic, type 1B" EXACT [MONDORULE:4, OMIM:612437] -synonym: "EPM1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612437] +synonym: "epilepsy, progressive myoclonic, type 1B" EXACT [MONDORULE:4] +synonym: "EPM1B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PRICKLE1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "progressive myoclonic epilepsy caused by mutation in PRICKLE1" EXACT [MONDO:design_pattern] xref: DOID:0111448 {source="MONDO:equivalentTo"} @@ -294394,15 +294445,15 @@ subset: ordo_disorder {source="Orphanet:139441"} subset: orphanet_rare {source="Orphanet:139441"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "H-ABC" EXACT [DOID:0060798, Orphanet:139441] +synonym: "H-ABC" EXACT ABBREVIATION [DOID:0060798, Orphanet:139441] synonym: "HABC" EXACT ABBREVIATION [DOID:0060798] synonym: "HLD6" EXACT ABBREVIATION [DOID:0060798, MONDO:Lexical, OMIM:612438] -synonym: "hypomyelinating leukodystrophy type 6" EXACT [DOID:0060798, MONDORULE:1] +synonym: "hypomyelinating leukodystrophy type 6" EXACT [MONDORULE:1] synonym: "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum" EXACT [DOID:0060798] -synonym: "hypomyelination with atrophy of basal ganglia and cerebellum" EXACT [DOID:0060798] -synonym: "leukodystrophy, hypomyelinating, 6" RELATED [MONDO:Lexical, OMIM:612438] -synonym: "leukodystrophy, hypomyelinating, type 6" EXACT [MONDORULE:1, OMIM:612438] -synonym: "leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum" RELATED [OMIM:612438] +synonym: "hypomyelination with atrophy of basal ganglia and cerebellum" EXACT [DOID:0060798, Orphanet:139441] +synonym: "leukodystrophy, hypomyelinating, 6" RELATED [MONDO:Lexical] +synonym: "leukodystrophy, hypomyelinating, type 6" EXACT [MONDORULE:1] +synonym: "leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum" RELATED [] xref: DOID:0060798 {source="MONDO:equivalentTo"} xref: GARD:10917 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="DOID:0060798", source="Orphanet:139441/attributed", source="Orphanet:139441/ntbt", source="Orphanet:139441"} @@ -294428,14 +294479,14 @@ subset: gard_rare {source="GARD:15558", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD9" EXACT ABBREVIATION [DOID:0110622, MONDO:Lexical, OMIM:612444] -synonym: "ciliary dyskinesia, primary, 9" RELATED [MONDO:Lexical, OMIM:612444] -synonym: "ciliary dyskinesia, primary, 9, with or without situs inversus" RELATED [OMIM:612444] -synonym: "ciliary dyskinesia, primary, type 9" EXACT [MONDORULE:1, OMIM:612444] +synonym: "ciliary dyskinesia, primary, 9" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 9, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 9" EXACT [MONDORULE:1] synonym: "DNAI2 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "primary ciliary dyskinesia 9" EXACT CLINGEN_LABEL [] +synonym: "primary ciliary dyskinesia 9" EXACT CLINGEN_LABEL [DOID:0110622] synonym: "primary ciliary dyskinesia 9 with or without situs inversus" EXACT [DOID:0110622] synonym: "primary ciliary dyskinesia caused by mutation in DNAI2" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 9" EXACT [DOID:0110622, MONDORULE:1] +synonym: "primary ciliary dyskinesia type 9" EXACT [MONDORULE:1] xref: DOID:0110622 {source="MONDO:equivalentTo"} xref: GARD:15558 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110622"} @@ -294458,7 +294509,7 @@ subset: ordo_disorder {source="Orphanet:171844"} subset: ordo_malformation_syndrome {source="Orphanet:171844"} subset: orphanet_rare {source="Orphanet:171844"} subset: rare -synonym: "scoliosis, arachnodactyly, and blindness" RELATED [OMIM:612445] +synonym: "scoliosis, arachnodactyly, and blindness" RELATED [] xref: GARD:17070 {source="MONDO:GARD"} xref: MEDGEN:436640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567309 {source="MONDO:equivalentTo"} @@ -294476,12 +294527,12 @@ def: "Any classic complement early component deficiency in which the cause of th subset: gard_rare {source="GARD:18291", source="MONDO:GARD"} subset: rare synonym: "C6 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "C6 deficiency" RELATED [OMIM:612446] -synonym: "C6 deficiency, subtotal" RELATED [OMIM:612446] -synonym: "C6D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612446] +synonym: "C6 deficiency" RELATED [] +synonym: "C6 deficiency, subtotal" RELATED [] +synonym: "C6D" RELATED ABBREVIATION [MONDO:Lexical] synonym: "classic complement early component deficiency caused by mutation in C6" EXACT [MONDO:design_pattern] -synonym: "complement component 6 deficiency" EXACT [MONDO:Lexical, OMIM:612446] -synonym: "complement component 6 deficiency, subtotal" RELATED [OMIM:612446] +synonym: "complement component 6 deficiency" EXACT [DOID:0060299, MONDO:Lexical, OMIM:612446] +synonym: "complement component 6 deficiency, subtotal" RELATED [] xref: DOID:0060299 {source="MONDO:equivalentTo"} xref: GARD:18291 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="DOID:0060299"} @@ -294500,7 +294551,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012909 name: skeletal defects, genital hypoplasia, and intellectual disability subset: otar {source="MONDO:OTAR"} -synonym: "skeletal defects, genital hypoplasia, and intellectual disability" EXACT [OMIM:612447] +synonym: "skeletal defects, genital hypoplasia, and intellectual disability" EXACT [] synonym: "skeletal defects, genital hypoplasia, and mental retardation" EXACT DEPRECATED [OMIM:612447] xref: MEDGEN:382795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567306 {source="MONDO:equivalentTo"} @@ -294514,7 +294565,7 @@ id: MONDO:0012910 name: age-related hearing impairment 1 synonym: "age-related hearing impairment 1" EXACT [MONDO:Lexical, OMIM:612448] synonym: "ARHI1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612448] -synonym: "presbycusis 1" RELATED [OMIM:612448] +synonym: "presbycusis 1" RELATED [] xref: MEDGEN:382794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567305 {source="MONDO:equivalentTo"} xref: OMIM:612448 {source="MONDO:equivalentTo"} @@ -294532,11 +294583,11 @@ subset: ordo_disorder {source="Orphanet:79444"} subset: orphanet_rare {source="Orphanet:79444"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Php 1C" RELATED [OMIM:612462] -synonym: "PHP1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612462] -synonym: "pseudohypoparathyroidism Ic" EXACT [OMIM:612462, OMIM:genemap2] -synonym: "pseudohypoparathyroidism, type 1C" RELATED [OMIM:612462] -synonym: "pseudohypoparathyroidism, type IC" RELATED [MONDO:Lexical, OMIM:612462] +synonym: "Php 1C" RELATED [] +synonym: "PHP1C" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pseudohypoparathyroidism Ic" EXACT [] +synonym: "pseudohypoparathyroidism, type 1C" RELATED [] +synonym: "pseudohypoparathyroidism, type IC" RELATED [MONDO:Lexical] xref: GARD:10681 {source="MONDO:GARD"} xref: ICD10CM:E20.1 {source="Orphanet:79444/attributed", source="Orphanet:79444/ntbt", source="Orphanet:79444"} xref: icd11.foundation:1401673748 {source="MONDO:equivalentTo"} @@ -294573,14 +294624,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aho-PPHP syndrome" EXACT [Orphanet:79445] synonym: "Albright Hereditary osteodystrophy with multiple hormone resistance" EXACT [NCIT:C129722] -synonym: "Albright hereditary osteodystrophy without multiple hormone resistance" RELATED [OMIM:612463] +synonym: "Albright hereditary osteodystrophy without multiple hormone resistance" RELATED [] synonym: "Albright hereditary osteodystrophy-PPHP syndrome" EXACT [Orphanet:79445] synonym: "Normocalcemic pseudohypoparathyroidism" EXACT [DOID:4183] -synonym: "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]" EXACT [DOID:4183] -synonym: "PPHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612463] +synonym: "Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]" EXACT [] +synonym: "PPHP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pseudo-pseudohypoparathyroidism" RELATED [GARD:0007860] synonym: "Pseudopseudo-hypoparathyroidism" RELATED [GARD:0007860] -synonym: "pseudopseudohypoparathyroidism" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612463] +synonym: "pseudopseudohypoparathyroidism" EXACT CLINGEN_LABEL [DOID:4183, icd11.foundation:245649135, MONDO:Lexical, NCIT:C129722, OMIM:612463, Orphanet:79445] xref: DOID:4183 {source="MONDO:equivalentTo"} xref: GARD:7860 {source="MONDO:GARD"} xref: ICD10CM:E20.1 {source="Orphanet:79445/attributed", source="Orphanet:79445/ntbt", source="Orphanet:79445"} @@ -294615,13 +294666,13 @@ def: "A sub-phenotype of WAGR that includes obesity, and is associated with muta subset: gard_rare {source="GARD:15559", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "chromosome 11P13-p12 deletion syndrome" RELATED [OMIM:612469] -synonym: "WAGR syndrome with obesity" RELATED [OMIM:612469] -synonym: "WAGRO" RELATED DEPRECATED [MONDO:Lexical, OMIM:612469] -synonym: "Wagro syndrome" RELATED [OMIM:612469] -synonym: "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome" EXACT [MONDO:Lexical, OMIM:612469] -synonym: "Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome" EXACT DEPRECATED [MONDO:Lexical, OMIM:612469] -synonym: "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome" EXACT [NCIT:C122804] +synonym: "chromosome 11P13-p12 deletion syndrome" RELATED [] +synonym: "WAGR syndrome with obesity" RELATED [] +synonym: "WAGRO" RELATED DEPRECATED [MONDO:Lexical] +synonym: "Wagro syndrome" RELATED [] +synonym: "Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome" EXACT [MONDO:Lexical] +synonym: "Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome" EXACT DEPRECATED [MONDO:Lexical, NCIT:C122804, OMIM:612469] +synonym: "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome" EXACT [] synonym: "Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome" EXACT DEPRECATED [NCIT:C122804] xref: GARD:15559 {source="MONDO:GARD"} xref: MEDGEN:382718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -294645,13 +294696,13 @@ subset: orphanet_rare {source="Orphanet:250989"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "1q21.1 microdeletion" RELATED [GARD:0010813] -synonym: "1q21.1 microdeletion syndrome" EXACT [DOID:0060411] +synonym: "1q21.1 microdeletion syndrome" EXACT [DOID:0060411, Orphanet:250989] synonym: "1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders)" EXACT [DECIPHER:62] -synonym: "chromosome 1q21.1 deletion syndrome, 1.35-MB" RELATED [OMIM:612474] -synonym: "chromosome 1q21.1 deletion syndrome, isolated cases" EXACT [OMIM:612474, OMIM:genemap2] +synonym: "chromosome 1q21.1 deletion syndrome, 1.35-MB" RELATED [] +synonym: "chromosome 1q21.1 deletion syndrome, isolated cases" EXACT [] synonym: "chromosome 1q21.1 microdeletion syndrome" RELATED [GARD:0010813] synonym: "Del(1)(q21)" EXACT [Orphanet:250989] -synonym: "monosomy 1q21.1" EXACT [DOID:0060411, Orphanet:250989] +synonym: "monosomy 1q21.1" EXACT [Orphanet:250989] xref: DECIPHER:62 {source="MONDO:equivalentTo"} xref: DOID:0060411 {source="MONDO:equivalentTo"} xref: GARD:10813 {source="MONDO:GARD"} @@ -294680,10 +294731,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:250994"} subset: orphanet_rare {source="Orphanet:250994"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "1q21.1 microduplication syndrome" EXACT [DOID:0060435] +synonym: "1q21.1 microduplication syndrome" EXACT [DOID:0060435, Orphanet:250994] synonym: "1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders)" EXACT [DECIPHER:67] -synonym: "chromosome 1q21.1 duplication syndrome" EXACT [OMIM:612475] -synonym: "chromosome 1q21.1 duplication syndrome, isolated cases" EXACT [OMIM:612475, OMIM:genemap2] +synonym: "chromosome 1q21.1 duplication syndrome" EXACT [DOID:0060435, OMIM:612475] +synonym: "chromosome 1q21.1 duplication syndrome, isolated cases" EXACT [] synonym: "dup(1)(q21.1)" EXACT [Orphanet:250994] synonym: "trisomy 1q21.1" EXACT [DOID:0060435, Orphanet:250994] xref: DECIPHER:67 {source="MONDO:equivalentTo"} @@ -294713,12 +294764,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:261349"} subset: orphanet_rare {source="Orphanet:261349"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "2p15-p16.1 microdeletion syndrome" EXACT [DOID:0060415, Orphanet:261349] -synonym: "2p15p16.1 microdeletion syndrome" EXACT [DOID:0060415] -synonym: "chromosome 2p16.1-p15 deletion syndrome" EXACT [OMIM:612513] -synonym: "chromosome 2p16.1-p15 deletion syndrome, isolated cases" EXACT [OMIM:612513, OMIM:genemap2] +synonym: "2p15-p16.1 microdeletion syndrome" EXACT [] +synonym: "2p15p16.1 microdeletion syndrome" EXACT [DOID:0060415, Orphanet:261349] +synonym: "chromosome 2p16.1-p15 deletion syndrome" EXACT [DOID:0060415, OMIM:612513] +synonym: "chromosome 2p16.1-p15 deletion syndrome, isolated cases" EXACT [] synonym: "Del(2)(p15p16.1)" EXACT [Orphanet:261349] -synonym: "monosomy 2p15-p16.1" EXACT [Orphanet:261349] +synonym: "monosomy 2p15-p16.1" EXACT [] synonym: "monosomy 2p15p16.1" EXACT [Orphanet:261349] xref: DECIPHER:70 {source="MONDO:equivalentTo"} xref: DOID:0060415 {source="MONDO:equivalentTo"} @@ -294758,13 +294809,13 @@ subset: gard_rare {source="GARD:15560", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD10" EXACT ABBREVIATION [DOID:0110612, MONDO:Lexical, OMIM:612518] -synonym: "ciliary dyskinesia, primary, 10" RELATED [MONDO:Lexical, OMIM:612518] -synonym: "ciliary dyskinesia, primary, 10, with or without situs inversus" RELATED [OMIM:612518] -synonym: "ciliary dyskinesia, primary, type 10" EXACT [MONDORULE:2, OMIM:612518] +synonym: "ciliary dyskinesia, primary, 10" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 10, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 10" EXACT [MONDORULE:2] synonym: "DNAAF2 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia 10 with or without situs inversus" EXACT [DOID:0110612] synonym: "primary ciliary dyskinesia caused by mutation in DNAAF2" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 10" EXACT [DOID:0110612, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 10" EXACT [MONDORULE:2] xref: DOID:0110612 {source="MONDO:equivalentTo"} xref: GARD:15560 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110612"} @@ -294781,10 +294832,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012919 name: type 1 diabetes mellitus 20 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] -synonym: "diabetes mellitus, insulin-dependent, 20" RELATED [MONDO:Lexical, OMIM:612520] -synonym: "diabetes mellitus, insulin-dependent, type 20" EXACT [MONDORULE:2, OMIM:612520] +synonym: "diabetes mellitus, insulin-dependent, 20" RELATED [MONDO:Lexical] +synonym: "diabetes mellitus, insulin-dependent, type 20" EXACT [MONDORULE:2] synonym: "HNF1A type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "IDDM20" EXACT ABBREVIATION [DOID:0110757, MONDO:Lexical, OMIM:612520] +synonym: "IDDM20" EXACT ABBREVIATION [DOID:0110757, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 20" EXACT [DOID:0110757] synonym: "type 1 diabetes mellitus caused by mutation in HNF1A" EXACT [MONDO:design_pattern] xref: DOID:0110757 {source="MONDO:equivalentTo"} @@ -294806,8 +294857,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012920 name: type 1 diabetes mellitus 21 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25." [DOID:0110758, MONDO:patterns/inherited_susceptibility, PMID:19073967] -synonym: "diabetes mellitus, insulin-dependent, 21" RELATED [MONDO:Lexical, OMIM:612521] -synonym: "IDDM21" EXACT ABBREVIATION [DOID:0110758, MONDO:Lexical, OMIM:612521] +synonym: "diabetes mellitus, insulin-dependent, 21" RELATED [MONDO:Lexical] +synonym: "IDDM21" EXACT ABBREVIATION [DOID:0110758, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 21" EXACT [DOID:0110758] xref: DOID:0110758 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110758"} @@ -294826,9 +294877,9 @@ id: MONDO:0012921 name: type 1 diabetes mellitus 22 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] synonym: "CCR5 type 1 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "diabetes mellitus, insulin-dependent, 22" RELATED [MONDO:Lexical, OMIM:612522] -synonym: "diabetes mellitus, insulin-dependent, type 22" EXACT [MONDORULE:2, OMIM:612522] -synonym: "IDDM22" EXACT ABBREVIATION [DOID:0110759, MONDO:Lexical, OMIM:612522] +synonym: "diabetes mellitus, insulin-dependent, 22" RELATED [MONDO:Lexical] +synonym: "diabetes mellitus, insulin-dependent, type 22" EXACT [MONDORULE:2] +synonym: "IDDM22" EXACT ABBREVIATION [DOID:0110759, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 22" EXACT [DOID:0110759] synonym: "type 1 diabetes mellitus caused by mutation in CCR5" EXACT [MONDO:design_pattern] xref: DOID:0110759 {source="MONDO:equivalentTo"} @@ -294850,7 +294901,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012922 name: pyloric stenosis, infantile hypertrophic, 5 synonym: "IHPS5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612525] -synonym: "infantile hypertrophic pyloric stenosis type 5" EXACT [OMIM:612525] +synonym: "infantile hypertrophic pyloric stenosis type 5" EXACT [] synonym: "pyloric stenosis, infantile hypertrophic, 5" EXACT [MONDO:Lexical, OMIM:612525] xref: MEDGEN:390899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567283 {source="MONDO:equivalentTo"} @@ -294867,15 +294918,15 @@ subset: gard_rare {source="GARD:13389", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Berardinelli-Seip congenital lipodystrophy type 3" EXACT [DOID:0111137] -synonym: "Berardinelli-Seip congenital lipodystrophy, type 3" RELATED [OMIM:612526] -synonym: "BSCL3" EXACT ABBREVIATION [DOID:0111137] +synonym: "Berardinelli-Seip congenital lipodystrophy, type 3" RELATED [] +synonym: "BSCL3" EXACT ABBREVIATION [] synonym: "CAV1 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] synonym: "CAV1 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "CGL3" EXACT ABBREVIATION [DOID:0111137, MONDO:Lexical, OMIM:612526] +synonym: "CGL3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612526] synonym: "congenital generalised lipodystrophy (disease) caused by mutation in CAV1" EXACT OMO:0003005 [] synonym: "congenital generalized lipodystrophy (disease) caused by mutation in CAV1" EXACT [] -synonym: "lipodystrophy, Berardinelli-Seip congenital, type 3" RELATED [OMIM:612526] -synonym: "lipodystrophy, congenital generalized, type 3" RELATED [MONDO:Lexical, OMIM:612526] +synonym: "lipodystrophy, Berardinelli-Seip congenital, type 3" RELATED [] +synonym: "lipodystrophy, congenital generalized, type 3" RELATED [MONDO:Lexical] synonym: "type 3 Berardinelli-Seip congenital lipodystrophy" RELATED [GARD:0013389] xref: DOID:0111137 {source="MONDO:equivalentTo"} xref: GARD:13389 {source="MONDO:GARD"} @@ -294901,12 +294952,12 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15561", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612527] +synonym: "DBA4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS17" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 4" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612527] +synonym: "Diamond-Blackfan anemia 4" EXACT CLINGEN_LABEL [DOID:0111890, MONDO:Lexical, NCIT:C176913, OMIM:612527] synonym: "Diamond-Blackfan anemia caused by mutation in RPS17" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 4" EXACT [MONDORULE:1, OMIM:612527] +synonym: "Diamond-Blackfan Anemia type 4" EXACT [MONDORULE:1] synonym: "RPS17 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS17 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111890 {source="MONDO:equivalentTo"} @@ -294928,12 +294979,12 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15562", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612528] +synonym: "DBA5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPL35A" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 5" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 5" EXACT [MONDO:Lexical, OMIM:612528] +synonym: "Diamond-Blackfan anemia 5" EXACT [DOID:0111883, MONDO:Lexical, NCIT:C176914, OMIM:612528] synonym: "Diamond-Blackfan anemia caused by mutation in RPL35A" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 5" EXACT [MONDORULE:1, OMIM:612528] +synonym: "Diamond-Blackfan Anemia type 5" EXACT [MONDORULE:1] synonym: "RPL35A Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL35A Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111883 {source="MONDO:equivalentTo"} @@ -294960,9 +295011,9 @@ synonym: "amelogenesis imperfecta caused by mutation in MMP20" EXACT [MONDO:desi synonym: "amelogenesis imperfecta hypomaturation type IIA2" EXACT [DOID:0110060] synonym: "amelogenesis imperfecta pigmented hypomaturation type 2" EXACT [DOID:0110060] synonym: "amelogenesis imperfecta type IIA2" EXACT [DOID:0110060] -synonym: "amelogenesis imperfecta, hypomaturation type, IIA2" RELATED [MONDO:Lexical, OMIM:612529] -synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 2" RELATED [OMIM:612529] -synonym: "amelogenesis imperfecta, type IIA2" EXACT [OMIM:612529, OMIM:genemap2] +synonym: "amelogenesis imperfecta, hypomaturation type, IIA2" RELATED [MONDO:Lexical] +synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 2" RELATED [] +synonym: "amelogenesis imperfecta, type IIA2" EXACT [] synonym: "MMP20 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110060 {source="MONDO:equivalentTo"} xref: GARD:15563 {source="MONDO:GARD"} @@ -294992,14 +295043,14 @@ subset: orphanet_rare {source="Orphanet:250999"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "1q41-q42 deletion syndrome" RELATED [GARD:0003738] -synonym: "1q41-q42 microdeletion syndrome" EXACT [DOID:0060412, Orphanet:250999] -synonym: "1q41q42 microdeletion syndrome" EXACT [DOID:0060412] -synonym: "chromosome 1q41-q42 deletion syndrome" EXACT [OMIM:612530] -synonym: "chromosome 1q41-q42 deletion syndrome, isolated cases" EXACT [OMIM:612530, OMIM:genemap2] +synonym: "1q41-q42 microdeletion syndrome" EXACT [DOID:0060412] +synonym: "1q41q42 microdeletion syndrome" EXACT [DOID:0060412, Orphanet:250999] +synonym: "chromosome 1q41-q42 deletion syndrome" EXACT [DOID:0060412, OMIM:612530] +synonym: "chromosome 1q41-q42 deletion syndrome, isolated cases" EXACT [] synonym: "Del(1)(q41q42)" EXACT [Orphanet:250999] synonym: "deletion 1q41-q42" RELATED [GARD:0003738] -synonym: "holoprosencephaly 10" RELATED [OMIM:612530] -synonym: "monosomy 1q41-q42" EXACT [Orphanet:250999] +synonym: "holoprosencephaly 10" RELATED [] +synonym: "monosomy 1q41-q42" EXACT [] synonym: "monosomy 1q41q42" EXACT [Orphanet:250999] xref: DOID:0060412 {source="MONDO:equivalentTo"} xref: GARD:3738 {source="MONDO:GARD"} @@ -295032,10 +295083,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic paraplegia 42" EXACT [DOID:0110794] -synonym: "autosomal dominant spastic paraplegia type 42" EXACT [DOID:0110794] -synonym: "hereditary spastic paraplegia type 42" EXACT [DOID:0110794, MONDORULE:2] +synonym: "autosomal dominant spastic paraplegia type 42" EXACT [DOID:0110794, Orphanet:171863] +synonym: "hereditary spastic paraplegia type 42" EXACT [MONDORULE:2] synonym: "SLC33A1 autosomal dominant pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spastic paraplegia 42, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612539] +synonym: "spastic paraplegia 42, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG42" EXACT ABBREVIATION [DOID:0110794, MONDO:Lexical, OMIM:612539, Orphanet:171863] xref: DOID:0110794 {source="MONDO:equivalentTo"} xref: GARD:17073 {source="MONDO:GARD"} @@ -295060,10 +295111,10 @@ subset: ordo_disorder {source="Orphanet:210163"} subset: orphanet_rare {source="Orphanet:210163"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Compton-North congenital myopathy" EXACT CLINGEN_LABEL [] -synonym: "congenital lethal myopathy, Compton-North type" RELATED [Orphanet:210163] -synonym: "myopathy, congenital, Compton-NORTH" RELATED [MONDO:Lexical, OMIM:612540] -synonym: "MYPCN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612540] +synonym: "Compton-North congenital myopathy" EXACT CLINGEN_LABEL [DOID:0080101] +synonym: "congenital lethal myopathy, Compton-North type" RELATED [] +synonym: "myopathy, congenital, Compton-NORTH" RELATED [MONDO:Lexical] +synonym: "MYPCN" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080101 {source="MONDO:equivalentTo"} xref: GARD:17111 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:210163/attributed", source="Orphanet:210163/ntbt", source="Orphanet:210163"} @@ -295086,14 +295137,14 @@ subset: ordo_disorder {source="Orphanet:331176"} subset: orphanet_rare {source="Orphanet:331176"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" EXACT CLINGEN_LABEL [] -synonym: "Dursun syndrome" RELATED [OMIM:612541] -synonym: "neutropenia, severe congenital 4, autosomal recessive" EXACT [OMIM:612541, OMIM:genemap2] -synonym: "neutropenia, severe congenital, 4, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612541] -synonym: "pulmonary arterial hypertension, leukopenia, and atrial septal defect" RELATED [OMIM:612541] -synonym: "SCN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612541, Orphanet:331176] +synonym: "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" EXACT CLINGEN_LABEL [DOID:0112136] +synonym: "Dursun syndrome" RELATED [] +synonym: "neutropenia, severe congenital 4, autosomal recessive" EXACT [] +synonym: "neutropenia, severe congenital, 4, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "pulmonary arterial hypertension, leukopenia, and atrial septal defect" RELATED [] +synonym: "SCN4" EXACT ABBREVIATION [DOID:0112136, MONDO:Lexical, OMIM:612541, Orphanet:331176] synonym: "severe congenital neutropenia type 4" EXACT [Orphanet:331176] -synonym: "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT [Orphanet:331176] +synonym: "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT [DOID:0112136, Orphanet:331176] xref: DOID:0112136 {source="MONDO:equivalentTo"} xref: GARD:17511 {source="MONDO:GARD"} xref: ICD10CM:D70 {source="Orphanet:331176", source="Orphanet:331176/attributed", source="Orphanet:331176/ntbt"} @@ -295120,12 +295171,12 @@ def: "Any focal segmental glomerulosclerosis in which the cause of the disease i subset: clingen {source="MONDO:CLINGEN"} subset: predisposition synonym: "APOL1 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "end-stage renal disease, nondiabetic, susceptibility to" RELATED [OMIM:612551] +synonym: "end-stage renal disease, nondiabetic, susceptibility to" RELATED [] synonym: "focal segmental glomerulosclerosis 4, susceptibility to" EXACT [MONDO:Lexical, OMIM:612551] synonym: "focal segmental glomerulosclerosis caused by mutation in APOL1" EXACT [MONDO:design_pattern] -synonym: "FSGS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612551] -synonym: "glomerulosclerosis, focal segmental, 4, susceptibility to" EXACT [OMIM:612551, OMIM:genemap2] -synonym: "susceptibility to focal segmental glomerulosclerosis 4" RELATED [OMIM:612551] +synonym: "FSGS4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "glomerulosclerosis, focal segmental, 4, susceptibility to" EXACT [] +synonym: "susceptibility to focal segmental glomerulosclerosis 4" RELATED [] xref: MEDGEN:390820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612551 {source="MONDO:equivalentTo"} xref: UMLS:C2675525 {source="MEDGEN:390820", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -295139,7 +295190,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012932 name: myopia 16, autosomal dominant -synonym: "myopia 16" EXACT [OMIM:612554, OMIM:genemap2] +synonym: "myopia 16" EXACT [] synonym: "myopia 16, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612554] synonym: "MYP16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612554] xref: MEDGEN:390819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -295157,14 +295208,14 @@ def: "Any hereditary breast ovarian cancer syndrome in which the cause of the di subset: clingen {source="MONDO:CLINGEN"} subset: predisposition synonym: "BRCA2 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "breast cancer, familial, susceptibility to, 2" RELATED [OMIM:612555] -synonym: "breast-ovarian cancer, familial, 2" EXACT [OMIM:612555, OMIM:genemap2] +synonym: "breast cancer, familial, susceptibility to, 2" RELATED [] +synonym: "breast-ovarian cancer, familial, 2" EXACT [] synonym: "breast-ovarian cancer, familial, susceptibility to, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612555] -synonym: "breast-ovarian cancer, familial, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612555] -synonym: "BROVCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612555] +synonym: "breast-ovarian cancer, familial, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "BROVCA2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA2" EXACT [MONDO:design_pattern] -synonym: "ovarian cancer, familial, susceptibility to, 2" RELATED [OMIM:612555] -synonym: "susceptibility to familial breast-ovarian cancer 2" RELATED [OMIM:612555] +synonym: "ovarian cancer, familial, susceptibility to, 2" RELATED [] +synonym: "susceptibility to familial breast-ovarian cancer 2" RELATED [] xref: MEDGEN:382625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612555 {source="MONDO:equivalentTo"} xref: Orphanet:145 {source="OMIM:612555"} @@ -295186,9 +295237,9 @@ name: leukemia, chronic lymphocytic, susceptibility to, 3 subset: inferred_rare subset: predisposition subset: rare -synonym: "Clls3" RELATED [OMIM:612557] +synonym: "Clls3" RELATED [] synonym: "leukemia, chronic lymphocytic, susceptibility to, 3" EXACT [OMIM:612557] -synonym: "leukemia, chronic lymphocytic, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612557] +synonym: "leukemia, chronic lymphocytic, susceptibility to, type 3" EXACT [MONDORULE:1] xref: MEDGEN:382621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612557 {source="MONDO:equivalentTo"} xref: Orphanet:67038 {source="OMIM:612557"} @@ -295202,10 +295253,10 @@ name: leukemia, chronic lymphocytic, susceptibility to, 4 subset: inferred_rare subset: predisposition subset: rare -synonym: "Clls4" RELATED [OMIM:612558] -synonym: "leukemia, chronic lymphocytic susceptibility to, 4" EXACT [OMIM:612558, OMIM:genemap2] +synonym: "Clls4" RELATED [] +synonym: "leukemia, chronic lymphocytic susceptibility to, 4" EXACT [] synonym: "leukemia, chronic lymphocytic, susceptibility to, 4" EXACT [OMIM:612558] -synonym: "leukemia, chronic lymphocytic, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612558] +synonym: "leukemia, chronic lymphocytic, susceptibility to, type 4" EXACT [MONDORULE:1] xref: MEDGEN:382620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612558 {source="MONDO:equivalentTo"} xref: Orphanet:67038 {source="OMIM:612558"} @@ -295220,10 +295271,10 @@ name: leukemia, chronic lymphocytic, susceptibility to, 5 subset: inferred_rare subset: predisposition subset: rare -synonym: "Clls5" RELATED [OMIM:612559] -synonym: "leukemia, chronic lymphocytic susceptibility to, 5" EXACT [OMIM:612559, OMIM:genemap2] +synonym: "Clls5" RELATED [] +synonym: "leukemia, chronic lymphocytic susceptibility to, 5" EXACT [] synonym: "leukemia, chronic lymphocytic, susceptibility to, 5" EXACT [OMIM:612559] -synonym: "leukemia, chronic lymphocytic, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612559] +synonym: "leukemia, chronic lymphocytic, susceptibility to, type 5" EXACT [MONDORULE:1] xref: MEDGEN:436452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612559 {source="MONDO:equivalentTo"} xref: Orphanet:67038 {source="OMIM:612559"} @@ -295240,13 +295291,13 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15568", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Aase-Smith syndrome 2" RELATED [OMIM:612561] -synonym: "DBA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612561] +synonym: "Aase-Smith syndrome 2" RELATED [] +synonym: "DBA6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPL5" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 6" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 6" EXACT [MONDO:Lexical, OMIM:612561] +synonym: "Diamond-Blackfan anemia 6" EXACT [DOID:0111879, MONDO:Lexical, NCIT:C176915, OMIM:612561] synonym: "Diamond-Blackfan anemia caused by mutation in RPL5" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 6" EXACT [MONDORULE:1, OMIM:612561] +synonym: "Diamond-Blackfan Anemia type 6" EXACT [MONDORULE:1] synonym: "RPL5 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL5 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111879 {source="MONDO:equivalentTo"} @@ -295269,12 +295320,12 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15569", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612562] +synonym: "DBA7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPL11" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 7" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 7" EXACT [MONDO:Lexical, OMIM:612562] +synonym: "Diamond-Blackfan anemia 7" EXACT [DOID:0111878, MONDO:Lexical, NCIT:C176916, OMIM:612562] synonym: "Diamond-Blackfan anemia caused by mutation in RPL11" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 7" EXACT [MONDORULE:1, OMIM:612562] +synonym: "Diamond-Blackfan Anemia type 7" EXACT [MONDORULE:1] synonym: "RPL11 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL11 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111878 {source="MONDO:equivalentTo"} @@ -295296,12 +295347,12 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15570", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612563] +synonym: "DBA8" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS7" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 8" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 8" EXACT [MONDO:Lexical, OMIM:612563] +synonym: "Diamond-Blackfan anemia 8" EXACT [DOID:0111881, MONDO:Lexical, NCIT:C176917, OMIM:612563] synonym: "Diamond-Blackfan anemia caused by mutation in RPS7" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 8" EXACT [MONDORULE:1, OMIM:612563] +synonym: "Diamond-Blackfan Anemia type 8" EXACT [MONDORULE:1] synonym: "RPS7 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS7 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111881 {source="MONDO:equivalentTo"} @@ -295321,8 +295372,8 @@ id: MONDO:0012940 name: inflammatory bowel disease 24 def: "An inflammatory bowel disease that has material basis in variation in the chromosome 20q13." [DOID:0110908, PMID:18758464] synonym: "IBD24" EXACT ABBREVIATION [DOID:0110908, MONDO:Lexical, OMIM:612566] -synonym: "inflammatory bowel disease 24" EXACT [MONDO:Lexical, OMIM:612566] -synonym: "inflammatory bowel disease type 24" EXACT [DOID:0110908, MONDORULE:2] +synonym: "inflammatory bowel disease 24" EXACT [DOID:0110908, MONDO:Lexical, OMIM:612566] +synonym: "inflammatory bowel disease type 24" EXACT [MONDORULE:2] xref: DOID:0110908 {source="MONDO:equivalentTo"} xref: MEDGEN:393404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567252 {source="MONDO:equivalentTo"} @@ -295343,11 +295394,11 @@ subset: rare synonym: "early onset autosomal recessive inflammatory bowel disease 25" EXACT [DOID:0110909] synonym: "IBD25" EXACT ABBREVIATION [DOID:0110909, MONDO:Lexical, OMIM:612567] synonym: "IL10RB inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "inflammatory bowel disease 25, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612567] -synonym: "inflammatory bowel disease 25, early onset, autosomal recessive" EXACT [OMIM:612567, OMIM:genemap2] +synonym: "inflammatory bowel disease 25, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "inflammatory bowel disease 25, early onset, autosomal recessive" EXACT [] synonym: "inflammatory bowel disease caused by mutation in IL10RB" EXACT [MONDO:design_pattern] -synonym: "inflammatory bowel disease type 25" EXACT [DOID:0110909, MONDORULE:2] -synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED [OMIM:612567] +synonym: "inflammatory bowel disease type 25" EXACT [MONDORULE:2] +synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED [] xref: DOID:0110909 {source="MONDO:equivalentTo"} xref: GARD:18342 {source="MONDO:GARD"} xref: MEDGEN:393403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -295368,7 +295419,7 @@ id: MONDO:0012942 name: lung cancer susceptibility 3 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "adenocarcinoma of lung, susceptibility to" RELATED [OMIM:612571] +synonym: "adenocarcinoma of lung, susceptibility to" RELATED [] synonym: "LNCR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612571] synonym: "lung cancer susceptibility 3" EXACT [MONDO:Lexical, OMIM:612571] xref: MEDGEN:382615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -295387,10 +295438,10 @@ subset: gard_rare {source="GARD:15571", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "IDH3B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 46" EXACT [MONDO:Lexical, OMIM:612572] +synonym: "retinitis pigmentosa 46" EXACT [DOID:0110409, MONDO:Lexical, OMIM:612572] synonym: "retinitis pigmentosa caused by mutation in IDH3B" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 46" EXACT [DOID:0110409, MONDORULE:2, OMIM:612572] -synonym: "retinitis pigmentosa, autosomal recessive, Idh3B-related" RELATED [OMIM:612572] +synonym: "retinitis pigmentosa type 46" EXACT [MONDORULE:2] +synonym: "retinitis pigmentosa, autosomal recessive, Idh3B-related" RELATED [] synonym: "RP46" EXACT ABBREVIATION [DOID:0110409, MONDO:Lexical, OMIM:612572] xref: DOID:0110409 {source="MONDO:equivalentTo"} xref: GARD:15571 {source="MONDO:GARD"} @@ -295416,7 +295467,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chromosome 17P13.3, telomeric, duplication syndrome" EXACT [OMIM:612576] -synonym: "split-hand/foot malformation with long bone deficiency 3" RELATED [OMIM:612576] +synonym: "split-hand/foot malformation with long bone deficiency 3" RELATED [] xref: GARD:15572 {source="MONDO:GARD"} xref: MEDGEN:390813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567245 {source="MONDO:equivalentTo"} @@ -295438,7 +295489,7 @@ subset: rare synonym: "ALS11" EXACT ABBREVIATION [DOID:0060202, MONDO:Lexical, OMIM:612577] synonym: "amyotrophic lateral sclerosis 11" EXACT [DOID:0060202, MONDO:Lexical, OMIM:612577] synonym: "amyotrophic lateral sclerosis caused by mutation in FIG4" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis type 11" EXACT [MONDORULE:2, OMIM:612577] +synonym: "amyotrophic lateral sclerosis type 11" EXACT [DOID:0060202, MONDORULE:2] synonym: "FIG4 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060202 {source="MONDO:equivalentTo"} xref: GARD:10496 {source="MONDO:GARD"} @@ -295460,15 +295511,15 @@ name: intellectual disability, autosomal dominant 3 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16454", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant intellectual disability 3" EXACT [DOID:0070033] +synonym: "autosomal dominant intellectual disability 3" EXACT [] synonym: "autosomal dominant mental retardation 3" EXACT DEPRECATED [DOID:0070033] -synonym: "autosomal dominant non-syndromic intellectual disability 3" RELATED [DOID:0070033] +synonym: "autosomal dominant non-syndromic intellectual disability 3" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15" EXACT [MONDO:design_pattern] synonym: "CDH15 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal dominant 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612580] -synonym: "intellectual disability, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:612580] -synonym: "mental retardation, autosomal dominant 3" RELATED DEPRECATED [MONDO:Lexical, OMIM:612580] -synonym: "mental retardation, autosomal dominant type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:612580] +synonym: "intellectual disability, autosomal dominant 3" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 3" EXACT [MONDORULE:1] +synonym: "mental retardation, autosomal dominant 3" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 3" EXACT DEPRECATED [MONDORULE:1] synonym: "MRD3" EXACT ABBREVIATION [DOID:0070033, MONDO:Lexical, OMIM:612580] xref: DOID:0070033 {source="MONDO:equivalentTo"} xref: GARD:16454 {source="MONDO:GARD"} @@ -295489,15 +295540,15 @@ name: intellectual disability, autosomal dominant 4 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16455", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant intellectual disability 4" EXACT [DOID:0070034] +synonym: "autosomal dominant intellectual disability 4" EXACT [] synonym: "autosomal dominant mental retardation 4" EXACT DEPRECATED [DOID:0070034] -synonym: "autosomal dominant non-syndromic intellectual disability 4" RELATED [DOID:0070034] +synonym: "autosomal dominant non-syndromic intellectual disability 4" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal dominant 4" EXACT [MONDO:Lexical, OMIM:612581] -synonym: "intellectual disability, autosomal dominant type 4" EXACT [MONDORULE:1, OMIM:612581] +synonym: "intellectual disability, autosomal dominant 4" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 4" EXACT [MONDORULE:1] synonym: "KIRREL3 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mental retardation, autosomal dominant 4" RELATED DEPRECATED [MONDO:Lexical, OMIM:612581] -synonym: "mental retardation, autosomal dominant type 4" EXACT DEPRECATED [MONDORULE:1, OMIM:612581] +synonym: "mental retardation, autosomal dominant 4" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 4" EXACT DEPRECATED [MONDORULE:1] synonym: "MRD4" EXACT ABBREVIATION [DOID:0070034, MONDO:Lexical, OMIM:612581] xref: DOID:0070034 {source="MONDO:equivalentTo"} xref: GARD:16455 {source="MONDO:GARD"} @@ -295525,11 +295576,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "6p subtelomeric deletion syndrome" EXACT [DOID:0060422, Orphanet:96125] synonym: "6p25 microdeletion syndrome" EXACT [DOID:0060422, Orphanet:96125] -synonym: "chromosome 6pter-p24 deletion syndrome" EXACT [OMIM:612582] -synonym: "chromosome 6pter-p24 deletion syndrome, isolated cases" EXACT [OMIM:612582, OMIM:genemap2] +synonym: "chromosome 6pter-p24 deletion syndrome" EXACT [DOID:0060422, OMIM:612582] +synonym: "chromosome 6pter-p24 deletion syndrome, isolated cases" EXACT [] synonym: "distal deletion 6p" EXACT [Orphanet:96125] synonym: "distal monosomy 6p" EXACT [DOID:0060422] -synonym: "distal monosomy type 6p" EXACT [MONDORULE:4, Orphanet:96125] +synonym: "distal monosomy type 6p" EXACT [MONDORULE:4] synonym: "monosomy 6p25" EXACT [Orphanet:96125] xref: DOID:0060422 {source="MONDO:equivalentTo"} xref: GARD:16845 {source="MONDO:GARD"} @@ -295559,7 +295610,7 @@ name: aneurysm, intracranial berry, 9 subset: gard_rare {source="GARD:18327", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, intracranial BERRY, 9" RELATED [MONDO:Lexical, OMIM:612586] +synonym: "aneurysm, intracranial BERRY, 9" RELATED [MONDO:Lexical] synonym: "ANIB9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612586] xref: DOID:0080972 {source="MONDO:equivalentTo"} xref: GARD:18327 {source="MONDO:GARD"} @@ -295575,7 +295626,7 @@ name: aneurysm, intracranial berry, 10 subset: gard_rare {source="GARD:18328", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, intracranial BERRY, 10" RELATED [MONDO:Lexical, OMIM:612587] +synonym: "aneurysm, intracranial BERRY, 10" RELATED [MONDO:Lexical] synonym: "ANIB10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612587] xref: DOID:0080973 {source="MONDO:equivalentTo"} xref: GARD:18328 {source="MONDO:GARD"} @@ -295592,7 +295643,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare synonym: "colorectal cancer, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:612589] -synonym: "colorectal cancer, susceptibility to, on chromosome 14Q" RELATED [OMIM:612589] +synonym: "colorectal cancer, susceptibility to, on chromosome 14Q" RELATED [] synonym: "CRCS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612589] xref: MEDGEN:436446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612589 {source="MONDO:equivalentTo"} @@ -295609,7 +295660,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare synonym: "colorectal cancer, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:612590] -synonym: "colorectal cancer, susceptibility to, on chromosome 16Q" RELATED [OMIM:612590] +synonym: "colorectal cancer, susceptibility to, on chromosome 16Q" RELATED [] synonym: "CRCS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612590] xref: MEDGEN:390810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612590 {source="MONDO:equivalentTo"} @@ -295628,11 +295679,11 @@ subset: predisposition subset: rare synonym: "colorectal cancer caused by mutation in POLD1" EXACT [MONDO:design_pattern] synonym: "colorectal cancer, susceptibility to, 10" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612591] -synonym: "colorectal cancer, susceptibility to, on chromosome 19Q" RELATED [OMIM:612591] -synonym: "colorectal cancer, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:612591] -synonym: "CRCS10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612591] +synonym: "colorectal cancer, susceptibility to, on chromosome 19Q" RELATED [] +synonym: "colorectal cancer, susceptibility to, type 10" EXACT [MONDORULE:2] +synonym: "CRCS10" RELATED ABBREVIATION [MONDO:Lexical] synonym: "POLD1 colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to colorectal cancer 10" RELATED [OMIM:612591] +synonym: "susceptibility to colorectal cancer 10" RELATED [] xref: MEDGEN:436445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612591 {source="MONDO:equivalentTo"} xref: UMLS:C2675481 {source="MEDGEN:436445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -295648,7 +295699,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare synonym: "colorectal cancer, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:612592] -synonym: "colorectal cancer, susceptibility to, on chromosome 20P" RELATED [OMIM:612592] +synonym: "colorectal cancer, susceptibility to, on chromosome 20P" RELATED [] synonym: "CRCS11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612592] xref: MEDGEN:390809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612592 {source="MONDO:equivalentTo"} @@ -295721,8 +295772,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0012959 name: psoriasis 11, susceptibility to synonym: "psoriasis 11, susceptibility to" EXACT [MONDO:Lexical, OMIM:612599] -synonym: "psoriasis susceptibility 11" EXACT [OMIM:612599, OMIM:genemap2] -synonym: "PSORS11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612599] +synonym: "psoriasis susceptibility 11" EXACT [] +synonym: "PSORS11" EXACT ABBREVIATION [DOID:0111285, MONDO:Lexical, OMIM:612599] xref: DOID:0111285 {source="MONDO:equivalentTo"} xref: MEDGEN:382613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612599 {source="MONDO:equivalentTo"} @@ -295739,14 +295790,14 @@ name: intellectual disability, autosomal dominant 5 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:12558", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant intellectual disability 5" EXACT [DOID:0070035] +synonym: "autosomal dominant intellectual disability 5" EXACT [] synonym: "autosomal dominant mental retardation 5" EXACT DEPRECATED [DOID:0070035] -synonym: "autosomal dominant non-syndromic intellectual disability 5" RELATED [DOID:0070035] +synonym: "autosomal dominant non-syndromic intellectual disability 5" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal dominant 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612621] -synonym: "intellectual disability, autosomal dominant type 5" EXACT [MONDORULE:1, OMIM:612621] -synonym: "mental retardation, autosomal dominant 5" RELATED DEPRECATED [MONDO:Lexical, OMIM:612621] -synonym: "mental retardation, autosomal dominant type 5" EXACT DEPRECATED [MONDORULE:1, OMIM:612621] +synonym: "intellectual disability, autosomal dominant 5" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 5" EXACT [MONDORULE:1] +synonym: "mental retardation, autosomal dominant 5" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 5" EXACT DEPRECATED [MONDORULE:1] synonym: "MRD5" EXACT ABBREVIATION [DOID:0070035, MONDO:Lexical, OMIM:612621] synonym: "SYNGAP1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism" RELATED [GARD:0012558] @@ -295769,8 +295820,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0012961 name: type 1 diabetes mellitus 23 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27." [DOID:0110760, MONDO:patterns/inherited_susceptibility, PMID:8072542] -synonym: "diabetes mellitus, insulin-dependent, 23" RELATED [MONDO:Lexical, OMIM:612622] -synonym: "IDDM23" EXACT ABBREVIATION [DOID:0110760, MONDO:Lexical, OMIM:612622] +synonym: "diabetes mellitus, insulin-dependent, 23" RELATED [MONDO:Lexical] +synonym: "IDDM23" EXACT ABBREVIATION [DOID:0110760, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 23" EXACT [DOID:0110760] xref: DOID:0110760 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110760"} @@ -295789,14 +295840,14 @@ id: MONDO:0012962 name: microvascular complications of diabetes, susceptibility to, 2 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:612623] +synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [] synonym: "EPO microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "microvascular complications of diabetes 2" EXACT [OMIM:612623, OMIM:genemap2] +synonym: "microvascular complications of diabetes 2" EXACT [] synonym: "microvascular complications of diabetes, susceptibility caused by mutation in EPO" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612623] -synonym: "microvascular complications of diabetes, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612623] -synonym: "MVCD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612623] -synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:612623] +synonym: "microvascular complications of diabetes, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "MVCD2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [] xref: MEDGEN:436442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612623 {source="MONDO:equivalentTo"} xref: UMLS:C2675471 {source="MEDGEN:436442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -295812,13 +295863,13 @@ name: microvascular complications of diabetes, susceptibility to, 3 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "ACE microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:612624] -synonym: "microvascular complications of diabetes 3" EXACT [OMIM:612624, OMIM:genemap2] +synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [] +synonym: "microvascular complications of diabetes 3" EXACT [] synonym: "microvascular complications of diabetes, susceptibility caused by mutation in ACE" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:612624] -synonym: "microvascular complications of diabetes, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612624] -synonym: "MVCD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612624] -synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612624] +synonym: "microvascular complications of diabetes, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "MVCD3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nephropathy, diabetic, susceptibility to" RELATED [] xref: MEDGEN:390806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612624 {source="MONDO:equivalentTo"} xref: UMLS:C2675470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:390806"} @@ -295840,11 +295891,11 @@ subset: orphanet_rare {source="Orphanet:1596"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "15q26 deletion syndrome" EXACT [DOID:0060397, Orphanet:1596] -synonym: "chromosome 15q26-qter deletion syndrome" EXACT [OMIM:612626] -synonym: "chromosome 15q26-qter deletion syndrome, isolated cases" EXACT [OMIM:612626, OMIM:genemap2] -synonym: "distal 15q deletion syndrome" EXACT [DOID:0060397, Orphanet:1596] -synonym: "distal monosomy 15q" EXACT [DOID:0060397] -synonym: "distal monosomy type 15q" EXACT [MONDORULE:4, Orphanet:1596] +synonym: "chromosome 15q26-qter deletion syndrome" EXACT [DOID:0060397, OMIM:612626] +synonym: "chromosome 15q26-qter deletion syndrome, isolated cases" EXACT [] +synonym: "distal 15q deletion syndrome" EXACT [DOID:0060397] +synonym: "distal monosomy 15q" EXACT [DOID:0060397, Orphanet:1596] +synonym: "distal monosomy type 15q" EXACT [MONDORULE:4] synonym: "Drayer syndrome" EXACT [DOID:0060397, OMIM:612626] synonym: "monosomy 15q26" EXACT [Orphanet:1596] synonym: "telomeric 15q deletion syndrome" EXACT [DOID:0060397, Orphanet:1596] @@ -295872,7 +295923,7 @@ subset: gard_rare {source="GARD:16505", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BFIS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612627] -synonym: "convulsions, benign familial infantile, 4" RELATED [OMIM:612627] +synonym: "convulsions, benign familial infantile, 4" RELATED [] synonym: "seizures, benign familial infantile, 4" EXACT [MONDO:Lexical, OMIM:612627] xref: DOID:0081117 {source="MONDO:equivalentTo"} xref: GARD:16505 {source="MONDO:GARD"} @@ -295889,12 +295940,12 @@ name: microvascular complications of diabetes, susceptibility to, 4 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "IL1RN microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "microvascular complications of diabetes 4" EXACT [OMIM:612628, OMIM:genemap2] +synonym: "microvascular complications of diabetes 4" EXACT [] synonym: "microvascular complications of diabetes, susceptibility caused by mutation in IL1RN" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:612628] -synonym: "microvascular complications of diabetes, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612628] -synonym: "MVCD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612628] -synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612628] +synonym: "microvascular complications of diabetes, susceptibility to, type 4" EXACT [MONDORULE:1] +synonym: "MVCD4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nephropathy, diabetic, susceptibility to" RELATED [] xref: MEDGEN:382527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612628 {source="MONDO:equivalentTo"} xref: UMLS:C2675112 {source="MEDGEN:382527", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -295915,7 +295966,7 @@ subset: orphanet_rare {source="Orphanet:86817"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ADENYLATE KINASE deficiency, hemolytic anaemia due to" RELATED OMO:0003005 [] -synonym: "ADENYLATE KINASE deficiency, hemolytic anemia due to" RELATED [OMIM:612631] +synonym: "ADENYLATE KINASE deficiency, hemolytic anemia due to" RELATED [] xref: GARD:16760 {source="MONDO:GARD"} xref: ICD10CM:D55.3 {source="Orphanet:86817/attributed", source="Orphanet:86817/ntbt", source="Orphanet:86817"} xref: MEDGEN:390802 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -295936,8 +295987,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "USH1H" EXACT ABBREVIATION [DOID:0110835, MONDO:Lexical, OMIM:612632] synonym: "Usher syndrome type IH" EXACT [DOID:0110835] -synonym: "Usher syndrome, type 1H" EXACT [OMIM:612632, OMIM:genemap2] -synonym: "USHER syndrome, type IH" RELATED [MONDO:Lexical, OMIM:612632] +synonym: "Usher syndrome, type 1H" EXACT [OMIM:612632] +synonym: "USHER syndrome, type IH" RELATED [MONDO:Lexical] xref: DOID:0110835 {source="MONDO:equivalentTo"} xref: GARD:15573 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110835"} @@ -295956,13 +296007,13 @@ id: MONDO:0012969 name: microvascular complications of diabetes, susceptibility to, 5 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "microvascular complications of diabetes 5" EXACT [OMIM:612633, OMIM:genemap2] +synonym: "microvascular complications of diabetes 5" EXACT [] synonym: "microvascular complications of diabetes, susceptibility caused by mutation in PON1" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612633] -synonym: "microvascular complications of diabetes, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612633] -synonym: "MVCD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612633] +synonym: "microvascular complications of diabetes, susceptibility to, type 5" EXACT [MONDORULE:1] +synonym: "MVCD5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PON1 microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinopathy, diabetic, susceptibility to" RELATED [OMIM:612633] +synonym: "retinopathy, diabetic, susceptibility to" RELATED [] xref: MEDGEN:436225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612633 {source="MONDO:equivalentTo"} xref: UMLS:C2674665 {source="MEDGEN:436225", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -295977,12 +296028,12 @@ id: MONDO:0012970 name: microvascular complications of diabetes, susceptibility to, 6 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "microvascular complications of diabetes 6" EXACT [OMIM:612634, OMIM:genemap2] +synonym: "microvascular complications of diabetes 6" EXACT [] synonym: "microvascular complications of diabetes, susceptibility caused by mutation in SOD2" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:612634] -synonym: "microvascular complications of diabetes, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612634] -synonym: "MVCD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612634] -synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612634] +synonym: "microvascular complications of diabetes, susceptibility to, type 6" EXACT [MONDORULE:1] +synonym: "MVCD6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nephropathy, diabetic, susceptibility to" RELATED [] synonym: "SOD2 microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:382533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612634 {source="MONDO:equivalentTo"} @@ -295999,14 +296050,14 @@ name: microvascular complications of diabetes, susceptibility to, 7 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "HFE microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "microvascular complications of diabetes 7" EXACT [OMIM:612635, OMIM:genemap2] +synonym: "microvascular complications of diabetes 7" EXACT [] synonym: "microvascular complications of diabetes, susceptibility caused by mutation in HFE" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:612635] -synonym: "microvascular complications of diabetes, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:612635] -synonym: "MVCD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612635] -synonym: "nephropathy, diabetic, susceptibility to" RELATED [OMIM:612635] -synonym: "nonproliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:612635] -synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:612635] +synonym: "microvascular complications of diabetes, susceptibility to, type 7" EXACT [MONDORULE:1] +synonym: "MVCD7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nephropathy, diabetic, susceptibility to" RELATED [] +synonym: "nonproliferative retinopathy, diabetic, susceptibility to" RELATED [] +synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [] xref: MEDGEN:382123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612635 {source="MONDO:equivalentTo"} xref: UMLS:C2673520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382123"} @@ -296019,8 +296070,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0012972 name: febrile seizures, familial, 10 -synonym: "convulsions, familial febrile, 10" RELATED [OMIM:612637] -synonym: "FEB10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612637] +synonym: "convulsions, familial febrile, 10" RELATED [] +synonym: "FEB10" EXACT ABBREVIATION [DOID:0111304, MONDO:Lexical, OMIM:612637] synonym: "febrile seizures, familial, 10" EXACT [MONDO:Lexical, OMIM:612637] xref: DOID:0111304 {source="MONDO:equivalentTo"} xref: MEDGEN:390747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -296035,8 +296086,8 @@ id: MONDO:0012973 name: inflammatory bowel disease 26 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15." [DOID:0110901, PMID:19122664] synonym: "IBD26" EXACT ABBREVIATION [DOID:0110901, MONDO:Lexical, OMIM:612639] -synonym: "inflammatory bowel disease 26" EXACT [MONDO:Lexical, OMIM:612639] -synonym: "inflammatory bowel disease type 26" EXACT [DOID:0110901, MONDORULE:2] +synonym: "inflammatory bowel disease 26" EXACT [DOID:0110901, MONDO:Lexical, OMIM:612639] +synonym: "inflammatory bowel disease type 26" EXACT [MONDORULE:2] xref: DOID:0110901 {source="MONDO:equivalentTo"} xref: MEDGEN:382561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567217 {source="MONDO:equivalentTo"} @@ -296053,11 +296104,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18129", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 59" NARROW [DOID:0110583] -synonym: "autosomal dominant nonsyndromic deafness 59" NARROW [OMIM:612642] -synonym: "autosomal dominant nonsyndromic deafness type 59" NARROW [DOID:0110583, MONDORULE:2] -synonym: "deafness, autosomal dominant 59" NARROW [MONDO:Lexical, OMIM:612642, OMIM:genemap2] -synonym: "DFNA59" NARROW ABBREVIATION [DOID:0110583, MONDO:Lexical, OMIM:612642] +synonym: "autosomal dominant deafness 59" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 59" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 59" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 59" NARROW [MONDO:Lexical] +synonym: "DFNA59" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110583 {source="MONDO:equivalentTo"} xref: GARD:18129 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110583"} @@ -296076,14 +296127,14 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18130", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 3B" NARROW [DOID:0110565] -synonym: "autosomal dominant nonsyndromic deafness 3B" NARROW [OMIM:612643] +synonym: "autosomal dominant deafness 3B" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 3B" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB6" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 3B" NARROW [DOID:0110565, MONDORULE:4] -synonym: "deafness, autosomal dominant 3B" NARROW [MONDO:Lexical, OMIM:612643] -synonym: "deafness, autosomal dominant 3b" NARROW [OMIM:612643, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 3B" NARROW [MONDORULE:4, OMIM:612643] -synonym: "DFNA3B" NARROW ABBREVIATION [DOID:0110565, MONDO:Lexical, OMIM:612643] +synonym: "autosomal dominant nonsyndromic deafness type 3B" NARROW [MONDORULE:4] +synonym: "deafness, autosomal dominant 3B" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant 3b" NARROW [] +synonym: "deafness, autosomal dominant type 3B" NARROW [MONDORULE:4] +synonym: "DFNA3B" NARROW ABBREVIATION [MONDO:Lexical] synonym: "GJB6 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110565 {source="MONDO:equivalentTo"} xref: GARD:18130 {source="MONDO:GARD"} @@ -296106,14 +296157,14 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18131", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 2B" NARROW [DOID:0110559] -synonym: "autosomal dominant nonsyndromic deafness 2B" NARROW [OMIM:612644] +synonym: "autosomal dominant deafness 2B" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 2B" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB3" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 2B" NARROW [DOID:0110559, MONDORULE:4] -synonym: "deafness, autosomal dominant 2B" NARROW [MONDO:Lexical, OMIM:612644] -synonym: "deafness, autosomal dominant 2b" NARROW [OMIM:612644, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 2B" NARROW [MONDORULE:4, OMIM:612644] -synonym: "DFNA2B" NARROW ABBREVIATION [DOID:0110559, MONDO:Lexical, OMIM:612644] +synonym: "autosomal dominant nonsyndromic deafness type 2B" NARROW [MONDORULE:4] +synonym: "deafness, autosomal dominant 2B" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant 2b" NARROW [] +synonym: "deafness, autosomal dominant type 2B" NARROW [MONDORULE:4] +synonym: "DFNA2B" NARROW ABBREVIATION [MONDO:Lexical] synonym: "GJB3 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110559 {source="MONDO:equivalentTo"} xref: GARD:18131 {source="MONDO:GARD"} @@ -296136,15 +296187,15 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22629", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 1B" NARROW [DOID:0110476] +synonym: "autosomal recessive deafness 1B" NARROW [] synonym: "Autosomal recessive deafness type 1B" NARROW [GTR:AN1075764] -synonym: "autosomal recessive nonsyndromic deafness 1B" NARROW [OMIM:612645] +synonym: "autosomal recessive nonsyndromic deafness 1B" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GJB6" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 1B" NARROW [DOID:0110476, MONDORULE:4] -synonym: "deafness, autosomal recessive 1B" NARROW [MONDO:Lexical, OMIM:612645] -synonym: "deafness, autosomal recessive 1b" NARROW [OMIM:612645, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 1B" NARROW [MONDORULE:4, OMIM:612645] -synonym: "DFNB1B" NARROW ABBREVIATION [DOID:0110476, MONDO:Lexical, OMIM:612645] +synonym: "autosomal recessive nonsyndromic deafness type 1B" NARROW [MONDORULE:4] +synonym: "deafness, autosomal recessive 1B" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive 1b" NARROW [] +synonym: "deafness, autosomal recessive type 1B" NARROW [MONDORULE:4] +synonym: "DFNB1B" NARROW ABBREVIATION [MONDO:Lexical] synonym: "GJB6 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110476 {source="MONDO:equivalentTo"} xref: GARD:22629 {source="MONDO:GARD"} @@ -296170,13 +296221,13 @@ subset: gard_rare {source="GARD:15574", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD11" EXACT ABBREVIATION [DOID:0110602, MONDO:Lexical, OMIM:612649] -synonym: "ciliary dyskinesia, primary, 11" RELATED [MONDO:Lexical, OMIM:612649] -synonym: "ciliary dyskinesia, primary, 11, without situs inversus" RELATED [OMIM:612649] -synonym: "ciliary dyskinesia, primary, type 11" EXACT [MONDORULE:2, OMIM:612649] -synonym: "primary ciliary dyskinesia 11" EXACT CLINGEN_LABEL [] +synonym: "ciliary dyskinesia, primary, 11" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 11, without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 11" EXACT [MONDORULE:2] +synonym: "primary ciliary dyskinesia 11" EXACT CLINGEN_LABEL [DOID:0110602] synonym: "primary ciliary dyskinesia 11 without situs inversus" EXACT [DOID:0110602] synonym: "primary ciliary dyskinesia caused by mutation in RSPH4A" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 11" EXACT [DOID:0110602, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 11" EXACT [MONDORULE:2] synonym: "RSPH4A primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110602 {source="MONDO:equivalentTo"} xref: GARD:15574 {source="MONDO:GARD"} @@ -296200,12 +296251,12 @@ subset: gard_rare {source="GARD:15575", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD12" EXACT ABBREVIATION [DOID:0110601, MONDO:Lexical, OMIM:612650] -synonym: "ciliary dyskinesia, primary, 12" RELATED [MONDO:Lexical, OMIM:612650] -synonym: "ciliary dyskinesia, primary, 12, without situs inversus" RELATED [OMIM:612650] -synonym: "ciliary dyskinesia, primary, type 12" EXACT [MONDORULE:2, OMIM:612650] +synonym: "ciliary dyskinesia, primary, 12" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 12, without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 12" EXACT [MONDORULE:2] synonym: "primary ciliary dyskinesia 12 without situs inversus" EXACT [DOID:0110601] synonym: "primary ciliary dyskinesia caused by mutation in RSPH9" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 12" EXACT [DOID:0110601, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 12" EXACT [MONDORULE:2] synonym: "RSPH9 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110601 {source="MONDO:equivalentTo"} xref: GARD:15575 {source="MONDO:GARD"} @@ -296231,9 +296282,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:199332"} subset: orphanet_rare {source="Orphanet:199332"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ECO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612651] +synonym: "ECO" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ECO syndrome" EXACT [DOID:0060641, Orphanet:199332] -synonym: "endocrine-CEREBROOSTEODYSPLASIA" RELATED [MONDO:Lexical, OMIM:612651] +synonym: "endocrine-CEREBROOSTEODYSPLASIA" RELATED [MONDO:Lexical] xref: DOID:0060641 {source="MONDO:equivalentTo"} xref: GARD:17094 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:199332", source="Orphanet:199332/attributed", source="Orphanet:199332/ntbt", source="DOID:0060641"} @@ -296263,8 +296314,8 @@ synonym: "hereditary spherocytosis caused by mutation in SLC4A1" EXACT [MONDO:de synonym: "HS4" EXACT ABBREVIATION [DOID:0110919] synonym: "SLC4A1 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SPH4" EXACT ABBREVIATION [DOID:0110919, MONDO:Lexical, OMIM:612653] -synonym: "spherocytosis, hereditary, 4" RELATED [OMIM:612653] -synonym: "spherocytosis, type 4" RELATED [MONDO:Lexical, OMIM:612653] +synonym: "spherocytosis, hereditary, 4" RELATED [] +synonym: "spherocytosis, type 4" RELATED [MONDO:Lexical] xref: DOID:0110919 {source="MONDO:equivalentTo"} xref: GARD:15576 {source="MONDO:GARD"} xref: MEDGEN:436375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -296288,9 +296339,9 @@ subset: ordo_disorder {source="Orphanet:209967"} subset: orphanet_rare {source="Orphanet:209967"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612656] -synonym: "episodic ataxia type 6" EXACT CLINGEN_LABEL [] -synonym: "episodic ataxia, type 6" RELATED [MONDO:Lexical, OMIM:612656] +synonym: "EA6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "episodic ataxia type 6" EXACT CLINGEN_LABEL [DOID:0050994, icd11.foundation:1493336901, Orphanet:209967] +synonym: "episodic ataxia, type 6" RELATED [MONDO:Lexical] synonym: "hereditary episodic ataxia caused by mutation in SLC1A3" EXACT [MONDO:design_pattern] synonym: "SLC1A3 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0050994 {source="MONDO:equivalentTo"} @@ -296318,9 +296369,9 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:15577", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 12" EXACT [MONDO:Lexical, OMIM:612657] +synonym: "cone-rod dystrophy 12" EXACT [DOID:0111019, MONDO:Lexical, OMIM:612657] synonym: "cone-rod dystrophy caused by mutation in PROM1" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 12" EXACT [DOID:0111019, MONDORULE:2, OMIM:612657] +synonym: "cone-rod dystrophy type 12" EXACT [MONDORULE:2] synonym: "CORD12" EXACT ABBREVIATION [DOID:0111019, MONDO:Lexical, OMIM:612657] synonym: "PROM1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111019 {source="MONDO:equivalentTo"} @@ -296347,10 +296398,10 @@ subset: orphanet_rare {source="Orphanet:171848"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "peripheral neuropathy, Fiskerstrand type" EXACT [Orphanet:171848] -synonym: "PHARC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612674] -synonym: "PHARC syndrome" EXACT CLINGEN_LABEL [Orphanet:171848] -synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" RELATED [MONDO:Lexical, OMIM:612674] -synonym: "polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome" RELATED [Orphanet:171848] +synonym: "PHARC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PHARC syndrome" EXACT CLINGEN_LABEL [DOID:0080181, Orphanet:171848] +synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" RELATED [MONDO:Lexical] +synonym: "polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome" RELATED [] synonym: "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT [DOID:0080181] xref: DOID:0080181 {source="MONDO:equivalentTo"} xref: GARD:17071 {source="MONDO:GARD"} @@ -296379,11 +296430,11 @@ subset: rare synonym: "EPB42 hereditary spherocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spherocytosis 5" EXACT [DOID:0110920] synonym: "hereditary spherocytosis caused by mutation in EPB42" EXACT [MONDO:design_pattern] -synonym: "hereditary spherocytosis type 5" EXACT CLINGEN_LABEL [] +synonym: "hereditary spherocytosis type 5" EXACT CLINGEN_LABEL [DOID:0110920] synonym: "HS5" EXACT ABBREVIATION [DOID:0110920] synonym: "SPH5" EXACT ABBREVIATION [DOID:0110920, MONDO:Lexical, OMIM:612690] -synonym: "spherocytosis, hereditary, 5" RELATED [OMIM:612690] -synonym: "spherocytosis, type 5" RELATED [MONDO:Lexical, OMIM:612690] +synonym: "spherocytosis, hereditary, 5" RELATED [] +synonym: "spherocytosis, type 5" RELATED [MONDO:Lexical] xref: DOID:0110920 {source="MONDO:equivalentTo"} xref: GARD:15578 {source="MONDO:GARD"} xref: MEDGEN:436371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -296404,8 +296455,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:208441"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BTOP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612691] -synonym: "polymicrogyria, bilateral temporooccipital" RELATED [MONDO:Lexical, OMIM:612691] +synonym: "BTOP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "polymicrogyria, bilateral temporooccipital" RELATED [MONDO:Lexical] xref: DOID:0080923 {source="MONDO:equivalentTo"} xref: GARD:10785 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:208441", source="Orphanet:208441/attributed", source="Orphanet:208441/ntbt"} @@ -296429,8 +296480,8 @@ subset: gard_rare {source="GARD:15579", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "agammaglobulinemia 6, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612692] -synonym: "agammaglobulinemia, autosomal recessive, due to Cd79B defect" RELATED [OMIM:612692] -synonym: "AGM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612692] +synonym: "agammaglobulinemia, autosomal recessive, due to Cd79B defect" RELATED [] +synonym: "AGM6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "autosomal agammaglobulinemia caused by mutation in CD79B" EXACT [MONDO:design_pattern] synonym: "CD79B autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081138 {source="MONDO:equivalentTo"} @@ -296455,8 +296506,8 @@ subset: gard_rare {source="GARD:10774", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FGF8 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612702] -synonym: "hypogonadotropic hypogonadism 6 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612702] +synonym: "HH6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 6 with or without anosmia" EXACT [DOID:0090086, MONDO:Lexical, OMIM:612702] synonym: "hypogonadotropic hypogonadism caused by mutation in FGF8" EXACT [MONDO:design_pattern] synonym: "KAL6" NARROW ABBREVIATION [GARD:0010774] synonym: "Kallmann syndrome 6" RELATED [GARD:0010774] @@ -296482,7 +296533,7 @@ subset: gard_rare {source="GARD:15580", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive primary microcephaly caused by mutation in STIL" EXACT [MONDO:design_pattern] -synonym: "MCPH7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612703] +synonym: "MCPH7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 7, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612703] synonym: "STIL autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070278 {source="MONDO:equivalentTo"} @@ -296505,11 +296556,11 @@ subset: gard_rare {source="GARD:10882", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "LCA13" EXACT ABBREVIATION [DOID:0110330, MONDO:Lexical, OMIM:612712] -synonym: "Leber congenital amaurosis 13" EXACT [MONDO:Lexical, OMIM:612712] +synonym: "Leber congenital amaurosis 13" EXACT [DOID:0110330, MONDO:Lexical, OMIM:612712] synonym: "Leber congenital amaurosis caused by mutation in RDH12" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 13" EXACT [DOID:0110330, MONDORULE:2, OMIM:612712] +synonym: "Leber congenital amaurosis type 13" EXACT [MONDORULE:2] synonym: "RDH12 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 53" RELATED [OMIM:612712] +synonym: "retinitis pigmentosa 53" RELATED [] xref: DOID:0110330 {source="MONDO:equivalentTo"} xref: GARD:10882 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110330"} @@ -296533,10 +296584,10 @@ id: MONDO:0012991 name: Kahrizi syndrome def: "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene." [DOID:0050807, OMIM:612713, Orphanet:168972] subset: otar {source="MONDO:OTAR"} -synonym: "intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive" RELATED [OMIM:612713] -synonym: "Kahrizi syndrome" EXACT [MONDO:Lexical, OMIM:612713] -synonym: "KHRZ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612713] -synonym: "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive" RELATED DEPRECATED [OMIM:612713] +synonym: "intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive" RELATED [] +synonym: "Kahrizi syndrome" EXACT [DOID:0050807, MONDO:Lexical, OMIM:612713] +synonym: "KHRZ" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive" RELATED DEPRECATED [] xref: DOID:0050807 {source="MONDO:equivalentTo"} xref: MEDGEN:382543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567196 {source="MONDO:equivalentTo"} @@ -296557,7 +296608,7 @@ subset: ordo_disorder {source="Orphanet:199337"} subset: orphanet_rare {source="Orphanet:199337"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" RELATED [OMIM:612714] +synonym: "exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" RELATED [] synonym: "pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome" EXACT [] xref: GARD:17095 {source="MONDO:GARD"} xref: MEDGEN:436369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -296579,7 +296630,7 @@ id: MONDO:0012993 name: dyschromatosis universalis hereditaria 2 subset: gard_rare {source="GARD:15581", source="MONDO:GARD"} subset: rare -synonym: "DUH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612715] +synonym: "DUH2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "dyschromatosis universalis hereditaria 2" EXACT [MONDO:Lexical, OMIM:612715] xref: GARD:15581 {source="MONDO:GARD"} xref: MEDGEN:382542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -296601,12 +296652,12 @@ subset: orphanet_rare {source="Orphanet:70594"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive sepiapterin reductase-deficient DRD" EXACT [Orphanet:70594] -synonym: "dopa-responsive dystonia due to sepiapterin reductase deficiency" EXACT CLINGEN_LABEL [DOID:0111168] +synonym: "dopa-responsive dystonia due to sepiapterin reductase deficiency" EXACT CLINGEN_LABEL [DOID:0111168, Orphanet:70594] synonym: "DRD due to SRD" EXACT [DOID:0111168, Orphanet:70594] -synonym: "dystonia, DOPA-responsive, due to sepiapterin reductase deficiency" RELATED [OMIM:612716] +synonym: "dystonia, DOPA-responsive, due to sepiapterin reductase deficiency" RELATED [] synonym: "DYT-SPR" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK304122/] -synonym: "Sepiapterin Reductase Deficiency" EXACT [NORD:1885] -synonym: "sepiapterin reductase deficiency" EXACT [Orphanet:70594] +synonym: "Sepiapterin Reductase Deficiency" EXACT [DOID:0111168, NORD:1885, OMIM:612716, Orphanet:70594] +synonym: "sepiapterin reductase deficiency" EXACT [DOID:0111168, OMIM:612716, Orphanet:70594] synonym: "SPR deficiency" EXACT [DOID:0111168, OMIM:612716, Orphanet:70594] synonym: "SRD" EXACT ABBREVIATION [DOID:0111168] xref: DOID:0111168 {source="MONDO:equivalentTo"} @@ -296651,11 +296702,11 @@ subset: ordo_disorder {source="Orphanet:35704"} subset: orphanet_rare {source="Orphanet:35704"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AGAT deficiency" EXACT CLINGEN_LABEL [OMIM:612718, Orphanet:35704] -synonym: "arginine:glycine amidinotransferase deficiency" EXACT [DOID:0050712, OMIM:612718] +synonym: "AGAT deficiency" EXACT CLINGEN_LABEL [DOID:0050712, OMIM:612718, Orphanet:35704] +synonym: "arginine:glycine amidinotransferase deficiency" EXACT [OMIM:612718] synonym: "CCDS3" EXACT ABBREVIATION [OMIM:612718] synonym: "cerebral creatine deficiency syndrome 3" EXACT [DOID:0050712, MONDO:Lexical, OMIM:612718] -synonym: "cerebral creatine deficiency syndrome type 3" EXACT [MONDORULE:1, OMIM:612718] +synonym: "cerebral creatine deficiency syndrome type 3" EXACT [MONDORULE:1] synonym: "creatine deficiency syndrome due to AGAT deficiency" EXACT [OMIM:612718] synonym: "disorder of glycine amidinotransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "GATM deficiency" EXACT [OMIM:612718] @@ -296689,8 +296740,8 @@ subset: ordo_disorder {source="Orphanet:1415"} subset: ordo_malformation_syndrome {source="Orphanet:1415"} subset: orphanet_rare {source="Orphanet:1415"} subset: rare -synonym: "HARDIKAR syndrome" RELATED [OMIM:612726] -synonym: "Hardikar syndrome" EXACT [Orphanet:1415] +synonym: "HARDIKAR syndrome" RELATED [] +synonym: "Hardikar syndrome" EXACT [OMIM:301068, Orphanet:1415] xref: GARD:9280 {source="MONDO:GARD"} xref: MEDGEN:208652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535632 {source="MONDO:equivalentTo"} @@ -296723,13 +296774,13 @@ subset: ordo_disorder {source="Orphanet:382"} subset: orphanet_rare {source="Orphanet:382"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CCDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612736] +synonym: "CCDS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "cerebral creatine deficiency syndrome 2" EXACT [DOID:0050799, MONDO:Lexical, OMIM:612736] -synonym: "cerebral creatine deficiency syndrome type 2" EXACT [MONDORULE:1, OMIM:612736] -synonym: "creatine deficiency syndrome due to GAMT deficiency" RELATED [OMIM:612736] +synonym: "cerebral creatine deficiency syndrome type 2" EXACT [MONDORULE:1] +synonym: "creatine deficiency syndrome due to GAMT deficiency" RELATED [] synonym: "disorder of guanidinoacetate N-methyltransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "GAMT deficiency" EXACT [DOID:0050799, OMIM:612736, Orphanet:382] -synonym: "guanidinoacetate methyltransferase deficiency" EXACT CLINGEN_LABEL [OMIM:612736] +synonym: "guanidinoacetate methyltransferase deficiency" EXACT CLINGEN_LABEL [DOID:0050799, icd11.foundation:1811642217, OMIM:612736, Orphanet:382] synonym: "guanidinoacetate N-methyltransferase activity disease" EXACT [MONDO:design_pattern] xref: DOID:0050799 {source="MONDO:equivalentTo"} xref: GARD:2578 {source="MONDO:GARD"} @@ -296765,22 +296816,22 @@ subset: orphanet_rare {source="Orphanet:100924"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "5-aminolevulinic acid dehydratase deficiency porphyria" RELATED [GARD:0004445] -synonym: "acute hepatic porphyria" EXACT [NCIT:C133887, OMIM:612740] +synonym: "acute hepatic porphyria" EXACT [NCIT:C133887] synonym: "ALA dehydratase deficiency pophyria" RELATED [GARD:0004445] -synonym: "ALAD deficiency" RELATED [OMIM:612740] -synonym: "ALAD Porphyria" EXACT [NORD:747] +synonym: "ALAD deficiency" RELATED [] +synonym: "ALAD Porphyria" EXACT [NORD:747, Orphanet:100924] synonym: "ALAD porphyria" EXACT [Orphanet:100924] synonym: "ALAD-related porphyria" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40097/] synonym: "aminolevulinate dehydratase deficiency porphyria" RELATED [GARD:0004445] -synonym: "Delta-aminolevulinate dehydratase deficiency" RELATED [OMIM:612740] -synonym: "Doss porphyria" RELATED [OMIM:612740] -synonym: "Lead poisoning, susceptibility to" RELATED [OMIM:612740] -synonym: "porphobilinogen synthase deficiency" RELATED [OMIM:612740] +synonym: "Delta-aminolevulinate dehydratase deficiency" RELATED [] +synonym: "Doss porphyria" RELATED [] +synonym: "Lead poisoning, susceptibility to" RELATED [] +synonym: "porphobilinogen synthase deficiency" RELATED [] synonym: "porphyria due to ALAD deficiency" EXACT [Orphanet:100924] synonym: "porphyria due to delta-aminolevulinate dehydratase deficiency" EXACT [Orphanet:100924] synonym: "porphyria of Doss" EXACT [Orphanet:100924] -synonym: "porphyria, acute hepatic" RELATED [OMIM:612740] -synonym: "porphyria, ALAD" RELATED [OMIM:612740] +synonym: "porphyria, acute hepatic" RELATED [] +synonym: "porphyria, ALAD" RELATED [] xref: GARD:16937 {source="MONDO:GARD"} xref: ICD10CM:E80.2 {source="Orphanet:100924/attributed", source="Orphanet:100924/ntbt", source="Orphanet:100924"} xref: MEDGEN:78659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -296800,8 +296851,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4445/aminole id: MONDO:0013001 name: obsolete synesthesia comment: This is not a disease, and may be obsoleted or moved to another hierarchy -synonym: "synesthesia" EXACT [OMIM:612759] -synonym: "Synsth" RELATED [OMIM:612759] +synonym: "synesthesia" EXACT [] +synonym: "Synsth" RELATED [] xref: MESH:C562460 {source="MONDO:obsoleteEquivalent"} xref: OMIM:612759 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1688" xsd:anyURI @@ -296815,9 +296866,9 @@ subset: gard_rare {source="GARD:15582", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADAM9 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cone-rod dystrophy 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:612775] +synonym: "cone-rod dystrophy 9" EXACT CLINGEN_LABEL [DOID:0111020, MONDO:Lexical, OMIM:612775] synonym: "cone-rod dystrophy caused by mutation in ADAM9" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 9" EXACT [DOID:0111020, MONDORULE:1, OMIM:612775] +synonym: "cone-rod dystrophy type 9" EXACT [MONDORULE:1] synonym: "CORD9" EXACT ABBREVIATION [DOID:0111020, MONDO:Lexical, OMIM:612775] xref: DOID:0111020 {source="MONDO:equivalentTo"} xref: GARD:15582 {source="MONDO:GARD"} @@ -296843,8 +296894,8 @@ subset: ordo_morphological_anomaly {source="Orphanet:141152"} subset: orphanet_rare {source="Orphanet:141152"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypoglossia with situs inversus" RELATED [OMIM:612776] -synonym: "hypoglossia, isolated" RELATED [OMIM:612776] +synonym: "hypoglossia with situs inversus" RELATED [] +synonym: "hypoglossia, isolated" RELATED [] xref: GARD:16972 {source="MONDO:GARD"} xref: ICD10CM:Q38.3 {source="Orphanet:141152/attributed", source="Orphanet:141152/ntbt", source="Orphanet:141152"} xref: MEDGEN:411249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -296880,17 +296931,17 @@ subset: ordo_disorder {source="Orphanet:199343"} subset: orphanet_rare {source="Orphanet:199343"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EAST syndrome" EXACT [OMIM:612780] +synonym: "EAST syndrome" EXACT [DOID:0060484, OMIM:612780, Orphanet:199343] synonym: "epilepsy, ataxia, sensorineural deafness and tubulopathy" EXACT [DOID:0060484] -synonym: "epilepsy, ataxia, sensorineural deafness, and tubulopathy" RELATED [OMIM:612780] +synonym: "epilepsy, ataxia, sensorineural deafness, and tubulopathy" RELATED [] synonym: "seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance" RELATED [GARD:0010514] -synonym: "seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance" EXACT [DOID:0060484] -synonym: "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance" RELATED [MONDO:Lexical, OMIM:612780] +synonym: "seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance" EXACT [] +synonym: "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance" RELATED [MONDO:Lexical] synonym: "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance" EXACT DEPRECATED [DOID:0060484] -synonym: "seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance" RELATED DEPRECATED [MONDO:Lexical, OMIM:612780] +synonym: "seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance" RELATED DEPRECATED [MONDO:Lexical] synonym: "seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome" EXACT [Orphanet:199343] synonym: "sesame syndrome" EXACT [DOID:0060484, OMIM:612780, Orphanet:199343] -synonym: "SESAMES" RELATED DEPRECATED [MONDO:Lexical, OMIM:612780] +synonym: "SESAMES" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0060484 {source="MONDO:equivalentTo"} xref: GARD:10514 {source="MONDO:GARD"} xref: MEDGEN:411243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -296919,14 +296970,14 @@ subset: rare synonym: "congenital IGHD type IB" EXACT [DOID:0060874, Orphanet:231671] synonym: "congenital isolated GH deficiency type IB" EXACT [DOID:0060874, Orphanet:231671] synonym: "congenital isolated growth hormone deficiency type IB" EXACT [DOID:0060874, Orphanet:231671] -synonym: "dwarfism of Sindh" EXACT [DOID:0060874, GARD:0003919, OMIM:612781] -synonym: "growth hormone deficiency, isolated, type IB" EXACT [OMIM:612781, OMIM:genemap2] -synonym: "IGHD 1B" RELATED [GARD:0003919, OMIM:612781] -synonym: "IGHD IB" EXACT [DOID:0060874] -synonym: "IGHD1B" RELATED ABBREVIATION [GARD:0003919, MONDO:Lexical, OMIM:612781] +synonym: "dwarfism of Sindh" EXACT [DOID:0060874, GARD:0003919] +synonym: "growth hormone deficiency, isolated, type IB" EXACT [] +synonym: "IGHD 1B" RELATED [GARD:0003919] +synonym: "IGHD IB" EXACT ABBREVIATION [DOID:0060874] +synonym: "IGHD1B" RELATED ABBREVIATION [GARD:0003919, MONDO:Lexical] synonym: "isolated growth hormone deficiency type 1B" RELATED [GARD:0003919] -synonym: "isolated Growth hormone deficiency, type 1B" RELATED [OMIM:612781] -synonym: "isolated growth hormone deficiency, type IB" RELATED [MONDO:Lexical, OMIM:612781] +synonym: "isolated Growth hormone deficiency, type 1B" RELATED [] +synonym: "isolated growth hormone deficiency, type IB" RELATED [MONDO:Lexical] xref: DOID:0060874 {source="MONDO:equivalentTo"} xref: GARD:3919 {source="MONDO:GARD"} xref: ICD10CM:E23.0 {source="Orphanet:231671/attributed", source="Orphanet:231671/ntbt", source="Orphanet:231671", source="DOID:0060874"} @@ -296950,11 +297001,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:317428"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CID due to ORAI1 deficiency" EXACT [Orphanet:317428] -synonym: "IMD9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612782] -synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 1" RELATED [OMIM:612782] -synonym: "immunodeficiency 9" RELATED [MONDO:Lexical, OMIM:612782] -synonym: "immunodeficiency type 9" EXACT [MONDORULE:1, OMIM:612782] +synonym: "CID due to ORAI1 deficiency" EXACT [DOID:0111976, Orphanet:317428] +synonym: "IMD9" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 1" RELATED [] +synonym: "immunodeficiency 9" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 9" EXACT [MONDORULE:1] xref: DOID:0111976 {source="MONDO:equivalentTo"} xref: GARD:10524 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:317428", source="Orphanet:317428/attributed", source="Orphanet:317428/ntbt"} @@ -296977,12 +297028,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:317430"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CID due to STIM1 deficiency" EXACT [Orphanet:317430] -synonym: "IMD10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612783] -synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 2" RELATED [OMIM:612783] -synonym: "immunodeficiency 10" RELATED [MONDO:Lexical, OMIM:612783] -synonym: "immunodeficiency type 10" EXACT [MONDORULE:2, OMIM:612783] -synonym: "STIM1 deficiency" RELATED [OMIM:612783] +synonym: "CID due to STIM1 deficiency" EXACT [DOID:0111970, Orphanet:317430] +synonym: "IMD10" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 2" RELATED [] +synonym: "immunodeficiency 10" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 10" EXACT [MONDORULE:2] +synonym: "STIM1 deficiency" RELATED [] xref: DOID:0111970 {source="MONDO:equivalentTo"} xref: GARD:10523 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:317430/attributed", source="Orphanet:317430/ntbt", source="Orphanet:317430"} @@ -297000,7 +297051,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013009 name: Megarbane-Jalkh syndrome synonym: "developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure" RELATED [GARD:0010689] -synonym: "developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure" RELATED [OMIM:612785] +synonym: "developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure" RELATED [] synonym: "Megarbane Jalkh syndrome" RELATED [GARD:0010689] synonym: "Megarbane-Jalkh syndrome" EXACT [OMIM:612785] xref: MEDGEN:412581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297017,11 +297068,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22630", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 71" NARROW [DOID:0110522] -synonym: "autosomal recessive nonsyndromic deafness 71" NARROW [OMIM:612789] -synonym: "autosomal recessive nonsyndromic deafness type 71" NARROW [DOID:0110522, MONDORULE:2] -synonym: "deafness, autosomal recessive 71" NARROW [MONDO:Lexical, OMIM:612789, OMIM:genemap2] -synonym: "DFNB71" NARROW ABBREVIATION [DOID:0110522, MONDO:Lexical, OMIM:612789] +synonym: "autosomal recessive deafness 71" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 71" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 71" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 71" NARROW [MONDO:Lexical] +synonym: "DFNB71" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110522 {source="MONDO:equivalentTo"} xref: GARD:22630 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110522"} @@ -297043,9 +297094,9 @@ subset: rare synonym: "ACTC1 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ASD5" EXACT ABBREVIATION [DOID:0110110, MONDO:Lexical, OMIM:612794] synonym: "atrial heart septal defect caused by mutation in ACTC1" EXACT [MONDO:design_pattern] -synonym: "atrial heart septal defect type 5" EXACT [DOID:0110110, MONDORULE:1] +synonym: "atrial heart septal defect type 5" EXACT [MONDORULE:1] synonym: "atrial septal defect 5" EXACT [DOID:0110110, MONDO:Lexical, OMIM:612794] -synonym: "atrial septal defect type 5" EXACT [MONDORULE:1, OMIM:612794] +synonym: "atrial septal defect type 5" EXACT [MONDORULE:1] xref: DOID:0110110 {source="MONDO:equivalentTo"} xref: ICD10CM:Q21.1 {source="DOID:0110110"} xref: MEDGEN:412580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297063,8 +297114,8 @@ id: MONDO:0013012 name: inflammatory bowel disease 27 def: "An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3" [DOID:0110902, PMID:18246054] synonym: "IBD27" EXACT ABBREVIATION [DOID:0110902, MONDO:Lexical, OMIM:612796] -synonym: "inflammatory bowel disease 27" EXACT [MONDO:Lexical, OMIM:612796] -synonym: "inflammatory bowel disease type 27" EXACT [DOID:0110902, MONDORULE:2] +synonym: "inflammatory bowel disease 27" EXACT [DOID:0110902, MONDO:Lexical, OMIM:612796] +synonym: "inflammatory bowel disease type 27" EXACT [MONDORULE:2] xref: DOID:0110902 {source="MONDO:equivalentTo"} xref: MEDGEN:412579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567559 {source="MONDO:equivalentTo"} @@ -297080,11 +297131,11 @@ name: question mark ears, isolated subset: gard_rare {source="GARD:15583", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "auricular cleft, congenital" RELATED [OMIM:612798] -synonym: "Cosman deformity of the auricle" RELATED [OMIM:612798] -synonym: "ears, prominent and constricted" RELATED [OMIM:612798] -synonym: "QME" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612798] -synonym: "question MARK ears, isolated" RELATED [OMIM:612798] +synonym: "auricular cleft, congenital" RELATED [] +synonym: "Cosman deformity of the auricle" RELATED [] +synonym: "ears, prominent and constricted" RELATED [] +synonym: "QME" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "question MARK ears, isolated" RELATED [] synonym: "question mark ears, isolated" EXACT [MONDO:Lexical, OMIM:612798] xref: GARD:15583 {source="MONDO:GARD"} xref: MEDGEN:411238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297105,8 +297156,8 @@ subset: orphanet_rare {source="Orphanet:171866"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SEMD, aggrecan type" EXACT [OMIM:612813, Orphanet:171866] -synonym: "SEMDAG" RELATED ABBREVIATION [OMIM:612813] -synonym: "spondyloepimetaphyseal dysplasia, aggrecan type" EXACT [OMIM:612813] +synonym: "SEMDAG" RELATED ABBREVIATION [] +synonym: "spondyloepimetaphyseal dysplasia, aggrecan type" EXACT [icd11.foundation:1133152894, OMIM:612813, Orphanet:171866] xref: GARD:10513 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:171866/attributed", source="Orphanet:171866/ntbt", source="Orphanet:171866"} xref: icd11.foundation:1133152894 {source="MONDO:equivalentTo"} @@ -297130,10 +297181,10 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:15584", source="MONDO:GARD"} subset: rare synonym: "BRGDA5" EXACT ABBREVIATION [DOID:0110222, MONDO:Lexical, OMIM:612838] -synonym: "Brugada syndrome 5" EXACT [MONDO:Lexical, OMIM:612838] +synonym: "Brugada syndrome 5" EXACT [DOID:0110222, MONDO:Lexical, OMIM:612838] synonym: "Brugada syndrome caused by mutation in SCN1B" EXACT [MONDO:design_pattern] -synonym: "Brugada syndrome type 5" EXACT [DOID:0110222, MONDORULE:1, OMIM:612838] -synonym: "Cardiac conduction defect, nonspecific" RELATED [OMIM:612838] +synonym: "Brugada syndrome type 5" EXACT [MONDORULE:1] +synonym: "Cardiac conduction defect, nonspecific" RELATED [] synonym: "SCN1B Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110222 {source="MONDO:equivalentTo"} xref: GARD:15584 {source="MONDO:GARD"} @@ -297160,20 +297211,21 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FERMT3 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "IADD" EXACT ABBREVIATION [DOID:0110912] -synonym: "integrin Activation deficiency disease" RELATED [OMIM:612840] -synonym: "integrin activation deficiency disease" EXACT [DOID:0110912] +synonym: "integrin Activation deficiency disease" RELATED [] +synonym: "integrin activation deficiency disease" EXACT [DOID:0110912, OMIM:612840] synonym: "lad-1 variant" EXACT [Orphanet:99844] -synonym: "lad-III" EXACT [Orphanet:99844] +synonym: "LAD-III" EXACT ABBREVIATION [Orphanet:99844] +synonym: "lad-III" EXACT [] synonym: "LAD1 variant" EXACT [DOID:0110912] synonym: "LAD1V" EXACT ABBREVIATION [DOID:0110912] synonym: "LAD3" EXACT ABBREVIATION [DOID:0110912, MONDO:Lexical, OMIM:612840] synonym: "leukocyte adhesion deficiency 1 variant" EXACT [DOID:0110912, OMIM:612840] -synonym: "leukocyte adhesion deficiency 3" EXACT CLINGEN_LABEL [OMIM:612840] +synonym: "leukocyte adhesion deficiency 3" EXACT CLINGEN_LABEL [DOID:0110912, OMIM:612840] synonym: "leukocyte adhesion deficiency caused by mutation in FERMT3" EXACT [MONDO:design_pattern] -synonym: "leukocyte adhesion deficiency type 3" EXACT [DOID:0110912, MONDORULE:1] -synonym: "leukocyte adhesion deficiency type III" EXACT [DOID:0110912] -synonym: "leukocyte adhesion deficiency, type 3" RELATED [OMIM:612840] -synonym: "leukocyte adhesion deficiency, type III" RELATED [MONDO:Lexical, OMIM:612840] +synonym: "leukocyte adhesion deficiency type 3" EXACT [MONDORULE:1] +synonym: "leukocyte adhesion deficiency type III" EXACT [DOID:0110912, Orphanet:99844] +synonym: "leukocyte adhesion deficiency, type 3" RELATED [] +synonym: "leukocyte adhesion deficiency, type III" RELATED [MONDO:Lexical] synonym: "leukocyte adhesion deficiency-1 variant" EXACT [Orphanet:99844] xref: DOID:0110912 {source="MONDO:equivalentTo"} xref: GARD:16915 {source="MONDO:GARD"} @@ -297200,12 +297252,13 @@ def: "A hypotrichosis that has material basis in a mutation on chromosome 1p21.1 subset: gard_rare {source="GARD:15585", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypotrichosis 5" EXACT [MONDO:Lexical, OMIM:612841] -synonym: "hypotrichosis type 5" EXACT [DOID:0110702, MONDORULE:1] -synonym: "HYPT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612841] -synonym: "hypt5" EXACT [DOID:0110702] +synonym: "hypotrichosis 5" EXACT [DOID:0110702, MONDO:Lexical, OMIM:612841] +synonym: "hypotrichosis type 5" EXACT [MONDORULE:1] +synonym: "HYPT5" EXACT ABBREVIATION [DOID:0110702, OMIM:612841] +synonym: "hypt5" EXACT [] synonym: "Marie Unna hereditary hypotrichosis 2" EXACT [DOID:0110702, OMIM:612841] -synonym: "Muhh2" EXACT [DOID:0110702] +synonym: "MUHH2" EXACT ABBREVIATION [DOID:0110702] +synonym: "Muhh2" EXACT [] xref: DOID:0110702 {source="MONDO:equivalentTo"} xref: GARD:15585 {source="MONDO:GARD"} xref: MEDGEN:440568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297224,9 +297277,9 @@ name: keratosis follicularis spinulosa decalvans, autosomal dominant subset: gard_rare {source="GARD:15586", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "keratosis follicularis SPINULOSA decalvans, autosomal dominant" RELATED [OMIM:612843] +synonym: "keratosis follicularis SPINULOSA decalvans, autosomal dominant" RELATED [] synonym: "keratosis follicularis spinulosa decalvans, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612843] -synonym: "KFSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612843] +synonym: "KFSD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080755 {source="MONDO:equivalentTo"} xref: GARD:15586 {source="MONDO:GARD"} xref: MEDGEN:412573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297246,7 +297299,7 @@ replaced_by: MONDO:0019666 id: MONDO:0013020 name: narcolepsy 5, susceptibility to subset: predisposition -synonym: "narcolepsy 5" RELATED [OMIM:612851, OMIM:genemap2] +synonym: "narcolepsy 5" RELATED [] synonym: "narcolepsy 5, susceptibility to" EXACT [OMIM:612851] synonym: "NRCLP5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612851] xref: MEDGEN:440562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297268,14 +297321,14 @@ subset: ordo_disorder {source="Orphanet:210115"} subset: orphanet_rare {source="Orphanet:210115"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autoinflammatory disease due to interleukin-1 receptor antagonist deficiency" EXACT [Orphanet:210115] +synonym: "autoinflammatory disease due to interleukin-1 receptor antagonist deficiency" EXACT [NCIT:C119056, Orphanet:210115] synonym: "deficiency of interleukin-1 receptor antagonist" RELATED [GARD:0010516] synonym: "deficiency of the Interleukin-1 receptor antagonist" EXACT [NCIT:C119056] -synonym: "DIRA" EXACT ABBREVIATION [Orphanet:210115] -synonym: "Interleukin 1 receptor antagonist deficiency" RELATED [OMIM:612852] +synonym: "DIRA" EXACT ABBREVIATION [NCIT:C119056, Orphanet:210115] +synonym: "Interleukin 1 receptor antagonist deficiency" RELATED [] synonym: "Interleukin-1 receptor antagonist deficiency" EXACT [Orphanet:210115] -synonym: "OMPP" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612852, Orphanet:210115] -synonym: "osteomyelitis, STERILE multifocal, with periostitis and pustulosis" RELATED [MONDO:Lexical, OMIM:612852] +synonym: "OMPP" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:210115] +synonym: "osteomyelitis, STERILE multifocal, with periostitis and pustulosis" RELATED [MONDO:Lexical] xref: GARD:10516 {source="MONDO:GARD"} xref: MEDGEN:411230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C557815 {source="MONDO:equivalentTo"} @@ -297294,7 +297347,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013022 name: restless legs syndrome, susceptibility to, 7 subset: predisposition -synonym: "restless legs syndrome 7" EXACT [OMIM:612853, OMIM:genemap2] +synonym: "restless legs syndrome 7" EXACT [] synonym: "restless legs syndrome, susceptibility to, 7" EXACT [OMIM:612853] synonym: "RLS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612853] xref: MEDGEN:440561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297309,9 +297362,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013023 name: orofacial cleft 12 -synonym: "cleft lip with or without cleft palate, nonsyndromic, 12" RELATED [OMIM:612858] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 12" RELATED [] synonym: "OFC12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612858] -synonym: "orofacial cleft 12" EXACT [MONDO:Lexical, OMIM:612858] +synonym: "orofacial cleft 12" EXACT [DOID:0080405, MONDO:Lexical, OMIM:612858] xref: DOID:0080405 {source="MONDO:equivalentTo"} xref: MEDGEN:411596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567548 {source="MONDO:equivalentTo"} @@ -297331,8 +297384,8 @@ subset: ordo_disorder {source="Orphanet:70591"} subset: orphanet_rare {source="Orphanet:70591"} subset: rare synonym: "CTEPH" EXACT ABBREVIATION [Orphanet:70591] -synonym: "Cteph, Dvt-negative, susceptibility to" RELATED [OMIM:612862] -synonym: "pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to" RELATED [OMIM:612862] +synonym: "Cteph, Dvt-negative, susceptibility to" RELATED [] +synonym: "pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to" RELATED [] xref: GARD:13124 {source="MONDO:GARD"} xref: icd11.foundation:1567490107 {source="Orphanet:70591", source="MONDO:equivalentTo"} xref: ICD9:415.19 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -297359,11 +297412,11 @@ subset: orphanet_rare {source="Orphanet:251056"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "6q25 microdeletion syndrome" EXACT [DOID:0060424] -synonym: "chromosome 6q24-q25 deletion syndrome" EXACT [OMIM:612863] +synonym: "chromosome 6q24-q25 deletion syndrome" EXACT [DOID:0060424, OMIM:612863] synonym: "chromosome 6q25 microdeletion syndrome" RELATED [GARD:0003764] -synonym: "chromosome 6q25-q25 deletion syndrome" EXACT [OMIM:612863, OMIM:genemap2] +synonym: "chromosome 6q25-q25 deletion syndrome" EXACT [] synonym: "Del(6)(q25)" EXACT [Orphanet:251056] -synonym: "del(6q25)" RELATED [NCIT:C36470] +synonym: "del(6q25)" RELATED [] synonym: "deletion 6q25" RELATED [GARD:0003764] synonym: "monosomy 6q25" EXACT [DOID:0060424, Orphanet:251056] xref: DOID:0060424 {source="MONDO:equivalentTo"} @@ -297393,9 +297446,9 @@ subset: ordo_disorder {source="Orphanet:98959"} subset: orphanet_rare {source="Orphanet:98959"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "corneal dystrophy, subepithelial mucinous" RELATED [MONDO:Lexical, OMIM:612867] +synonym: "corneal dystrophy, subepithelial mucinous" RELATED [MONDO:Lexical] synonym: "SMCD" EXACT ABBREVIATION [DOID:0060454, MONDO:Lexical, OMIM:612867, Orphanet:98959] -synonym: "subepithelial mucinous corneal dystrophy" EXACT [OMIM:612867] +synonym: "subepithelial mucinous corneal dystrophy" EXACT [DOID:0060454, icd11.foundation:943706174, OMIM:612867, Orphanet:98959] xref: DOID:0060454 {source="MONDO:equivalentTo"} xref: GARD:16878 {source="MONDO:GARD"} xref: ICD10CM:H18.5 {source="DOID:0060454", source="Orphanet:98959/attributed", source="Orphanet:98959/ntbt", source="Orphanet:98959"} @@ -297419,10 +297472,10 @@ subset: ordo_disorder {source="Orphanet:98971"} subset: orphanet_rare {source="Orphanet:98971"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 12Q21.33 deletion syndrome" RELATED [OMIM:612868] -synonym: "corneal dystrophy, POSTERIOR amorphous" RELATED [MONDO:Lexical, OMIM:612868] +synonym: "chromosome 12Q21.33 deletion syndrome" RELATED [] +synonym: "corneal dystrophy, POSTERIOR amorphous" RELATED [MONDO:Lexical] synonym: "PACD" EXACT ABBREVIATION [DOID:0060452, MONDO:Lexical, OMIM:612868, Orphanet:98971] -synonym: "posterior amorphous corneal dystrophy" EXACT [OMIM:612868] +synonym: "posterior amorphous corneal dystrophy" EXACT [DOID:0060452, icd11.foundation:347556972, OMIM:612868, Orphanet:98971] synonym: "posterior amorphous stromal dystrophy" EXACT [Orphanet:98971] xref: DOID:0060452 {source="MONDO:equivalentTo"} xref: GARD:16880 {source="MONDO:GARD"} @@ -297445,7 +297498,7 @@ subset: ordo_disorder {source="Orphanet:45"} subset: orphanet_rare {source="Orphanet:45"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AMP deaminase deficiency" EXACT [Orphanet:45] +synonym: "AMP deaminase deficiency" EXACT [icd11.foundation:550341491, Orphanet:45] synonym: "myoadenylate deaminase deficiency" EXACT [Orphanet:45] xref: GARD:547 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:45", source="Orphanet:45/attributed", source="Orphanet:45/ntbt"} @@ -297465,9 +297518,9 @@ name: cerebellar ataxia type 9 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cerebellar ataxia type 9" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "SCA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612876] -synonym: "spinocerebellar ataxia 9" RELATED [MONDO:Lexical, OMIM:612876] +synonym: "cerebellar ataxia type 9" EXACT [DOID:0111747, https://orcid.org/0000-0002-6601-2165] +synonym: "SCA9" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spinocerebellar ataxia 9" RELATED [MONDO:Lexical] synonym: "spinocerebellar ataxia type 9" RELATED [GARD:0010481] xref: DOID:0111747 {source="MONDO:equivalentTo"} xref: MEDGEN:854704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297482,10 +297535,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15588", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1BB" RELATED [MONDO:Lexical, OMIM:612877] -synonym: "cardiomyopathy, dilated, type 1Bb" EXACT [MONDORULE:9, OMIM:612877] +synonym: "cardiomyopathy, dilated, 1BB" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Bb" EXACT [MONDORULE:9] synonym: "CMD1BB" EXACT ABBREVIATION [DOID:0110458, MONDO:Lexical, OMIM:612877] -synonym: "dilated cardiomyopathy type 1BB" EXACT [DOID:0110458, MONDORULE:9] +synonym: "dilated cardiomyopathy type 1BB" EXACT [MONDORULE:9] synonym: "DSG2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial isolated dilated cardiomyopathy caused by mutation in DSG2" EXACT [MONDO:design_pattern] xref: DOID:0110458 {source="MONDO:equivalentTo"} @@ -297505,8 +297558,8 @@ subset: gard_rare {source="GARD:15589", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "chromosome 5Q14.3 deletion syndrome, distal" EXACT [OMIM:612881] -synonym: "heterotopia, periventricular, associated with chromosome 5Q deletion" RELATED [OMIM:612881] -synonym: "periventricular nodular heterotopia 5" RELATED [OMIM:612881] +synonym: "heterotopia, periventricular, associated with chromosome 5Q deletion" RELATED [] +synonym: "periventricular nodular heterotopia 5" RELATED [] xref: GARD:15589 {source="MONDO:GARD"} xref: MEDGEN:442882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567876 {source="MONDO:equivalentTo"} @@ -297523,14 +297576,14 @@ def: "Any generalized epilepsy in which the cause of the disease is a mutation i subset: predisposition synonym: "CASR generalised epilepsy" EXACT OMO:0003005 [] synonym: "CASR generalized epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "EIG8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612899] -synonym: "epilepsy idiopathic generalized, susceptibility to, 8" EXACT [OMIM:612899, OMIM:genemap2] +synonym: "EIG8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "epilepsy idiopathic generalized, susceptibility to, 8" EXACT [] synonym: "epilepsy, idiopathic generalized, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:612899] -synonym: "epilepsy, idiopathic generalized, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:612899] +synonym: "epilepsy, idiopathic generalized, susceptibility to, type 8" EXACT [MONDORULE:1] synonym: "generalised epilepsy caused by mutation in CASR" EXACT OMO:0003005 [] synonym: "generalized epilepsy caused by mutation in CASR" EXACT [MONDO:design_pattern] synonym: "susceptibility to idiopathic generalised epilepsy 8" RELATED OMO:0003005 [] -synonym: "susceptibility to idiopathic generalized epilepsy 8" RELATED [OMIM:612899] +synonym: "susceptibility to idiopathic generalized epilepsy 8" RELATED [] xref: DOID:0111322 {source="MONDO:equivalentTo"} xref: MEDGEN:414549 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612899 {source="MONDO:equivalentTo"} @@ -297551,8 +297604,8 @@ def: "Any spastic quadriplegia in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:18309", source="MONDO:GARD"} subset: rare synonym: "cerebral palsy, spastic quadriplegic, 2" EXACT [MONDO:Lexical, OMIM:612900] -synonym: "cerebral palsy, spastic quadriplegic, type 2" EXACT [MONDORULE:1, OMIM:612900] -synonym: "CPSQ2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612900] +synonym: "cerebral palsy, spastic quadriplegic, type 2" EXACT [MONDORULE:1] +synonym: "CPSQ2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "KANK1 spastic quadriplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic quadriplegia caused by mutation in KANK1" EXACT [MONDO:design_pattern] xref: DOID:0081360 {source="MONDO:equivalentTo"} @@ -297578,11 +297631,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DSP striate palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "keratoderma, palmoplantar, striate form 2" RELATED [OMIM:612908] -synonym: "keratosis palmoplantaris striata II" RELATED [MONDO:Lexical, OMIM:612908] -synonym: "keratosis palmoplantaris striata type 2" EXACT [MONDORULE:1, OMIM:612908] -synonym: "PPKS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612908] -synonym: "striate palmoplantar keratoderma 2" RELATED [OMIM:612908] +synonym: "keratoderma, palmoplantar, striate form 2" RELATED [] +synonym: "keratosis palmoplantaris striata II" RELATED [MONDO:Lexical] +synonym: "keratosis palmoplantaris striata type 2" EXACT [MONDORULE:1] +synonym: "PPKS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "striate palmoplantar keratoderma 2" RELATED [] synonym: "striate palmoplantar keratoderma caused by mutation in DSP" EXACT [MONDO:design_pattern] xref: DOID:0081109 {source="MONDO:equivalentTo"} xref: GARD:15590 {source="MONDO:GARD"} @@ -297607,20 +297660,20 @@ subset: ordo_malformation_syndrome {source="Orphanet:141000"} subset: orphanet_rare {source="Orphanet:141000"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Gabrielli syndrome" RELATED [OMIM:612913] +synonym: "Gabrielli syndrome" RELATED [] synonym: "OFD syndrome 11" RELATED [GARD:0004118] synonym: "OFD11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612913, Orphanet:141000] -synonym: "Ofds 11" RELATED [OMIM:612913] +synonym: "Ofds 11" RELATED [] synonym: "oral facial digital syndrome 11" RELATED [GARD:0004118] synonym: "oral facial digital syndrome type 11" RELATED [GARD:0004118] synonym: "oral-facial-digital syndrome type 11" EXACT [Orphanet:141000] -synonym: "oral-Facial-digital syndrome with skeletal anomalies" RELATED [OMIM:612913] +synonym: "oral-Facial-digital syndrome with skeletal anomalies" RELATED [] synonym: "oral-facial-digital syndrome, Gabrielli type" EXACT [Orphanet:141000] -synonym: "oral-Facial-digital syndrome, type 11" RELATED [OMIM:612913] +synonym: "oral-Facial-digital syndrome, type 11" RELATED [] synonym: "orofaciodigital syndrome 11" RELATED [GARD:0004118] -synonym: "orofaciodigital syndrome type 11" RELATED [Orphanet:141000] -synonym: "orofaciodigital syndrome type XI" EXACT [DOID:0060381, MONDORULE:3] -synonym: "orofaciodigital syndrome XI" EXACT [MONDO:Lexical, OMIM:612913] +synonym: "orofaciodigital syndrome type 11" RELATED [] +synonym: "orofaciodigital syndrome type XI" EXACT [MONDORULE:3] +synonym: "orofaciodigital syndrome XI" EXACT [DOID:0060381, MONDO:Lexical] synonym: "orofaciodigital syndrome, Gabrielli type" EXACT [Orphanet:141000] xref: DOID:0060381 {source="MONDO:equivalentTo"} xref: GARD:4118 {source="MONDO:GARD"} @@ -297644,10 +297697,10 @@ subset: orphanet_rare {source="Orphanet:217017"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "occipital atretic cephalocele, unusual facies and large feet" RELATED [GARD:0010582] -synonym: "occipital atretic cephalocele, unusual facies, and large feet" RELATED [OMIM:612916] +synonym: "occipital atretic cephalocele, unusual facies, and large feet" RELATED [] synonym: "occipital atretic cephalocele-unusual facies-large feet syndrome" EXACT [Orphanet:217017] synonym: "Zechi Ceide syndrome" RELATED [GARD:0010582] -synonym: "Zechi-Ceide syndrome" EXACT [OMIM:612916] +synonym: "Zechi-Ceide syndrome" EXACT [OMIM:612916, Orphanet:217017] xref: GARD:10582 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:217017", source="Orphanet:217017/attributed", source="Orphanet:217017/ntbt"} xref: MEDGEN:416693 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297664,7 +297717,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10582/zechi- id: MONDO:0013037 name: Giacheti syndrome synonym: "Giacheti syndrome" EXACT [OMIM:612917] -synonym: "Marfanoid habitus and specific language and learning disabilities" RELATED [OMIM:612917] +synonym: "Marfanoid habitus and specific language and learning disabilities" RELATED [] xref: MEDGEN:414543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567864 {source="MONDO:equivalentTo"} xref: OMIM:612917 {source="MONDO:equivalentTo"} @@ -297682,13 +297735,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:140944"} subset: orphanet_rare {source="Orphanet:140944"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CLOVE syndrome" RELATED [OMIM:612918] -synonym: "CLOVE syndrome, somatic" EXACT [OMIM:612918, OMIM:genemap2] -synonym: "CLOVES syndrome" EXACT [OMIM:612918] +synonym: "CLOVE syndrome" RELATED [] +synonym: "CLOVE syndrome, somatic" EXACT [] +synonym: "CLOVES syndrome" EXACT [DOID:0080351, OMIM:612918, Orphanet:140944] synonym: "congenital lipomatous overgrowth - vascular malformation - epidermal nevi" RELATED [GARD:0010939] -synonym: "congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi" RELATED [OMIM:612918] -synonym: "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" EXACT [DOID:0080351] -synonym: "congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities" RELATED [OMIM:612918] +synonym: "congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi" RELATED [] +synonym: "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" EXACT [DOID:0080351, OMIM:612918] +synonym: "congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities" RELATED [] synonym: "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome" EXACT [Orphanet:140944] synonym: "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome" EXACT [Orphanet:140944] xref: DOID:0080351 {source="MONDO:equivalentTo"} @@ -297717,13 +297770,13 @@ def: "Any 3-M syndrome in which the cause of the disease is a mutation in the OB subset: gard_rare {source="GARD:15591", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "3-M syndrome 2" EXACT [OMIM:612921, OMIM:genemap2] +synonym: "3-M syndrome 2" EXACT [] synonym: "3-M syndrome caused by mutation in OBSL1" EXACT [MONDO:design_pattern] synonym: "3M syndrome 2" EXACT CLINGEN_LABEL [OMIM:612921] -synonym: "3M2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612921] +synonym: "3M2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "OBSL1 3-M syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "three M syndrome 2" EXACT [MONDO:Lexical, OMIM:612921] -synonym: "three M syndrome type 2" EXACT [MONDORULE:1, OMIM:612921] +synonym: "three M syndrome type 2" EXACT [MONDORULE:1] xref: GARD:15591 {source="MONDO:GARD"} xref: MEDGEN:414168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567862 {source="MONDO:equivalentTo"} @@ -297748,17 +297801,17 @@ subset: ordo_etiological_subtype {source="Orphanet:93576"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "aHUS with MCP/CD46 anomaly" EXACT [Orphanet:93576] -synonym: "AHUS, susceptibility to, 2" RELATED [OMIM:612922] -synonym: "AHUS2" RELATED ABBREVIATION [OMIM:612922] -synonym: "aHUS2" RELATED [MONDO:Lexical, OMIM:612922] -synonym: "atypical HUS with MCP/CD46 anomaly" EXACT [Orphanet:93576] -synonym: "D-HUS with MCP/CD46 anomaly" EXACT [Orphanet:93576] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:612922] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612922] -synonym: "hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly" EXACT [Orphanet:93576] +synonym: "aHUS with MCP/CD46 anomaly" EXACT [] +synonym: "AHUS, susceptibility to, 2" RELATED [] +synonym: "AHUS2" RELATED ABBREVIATION [] +synonym: "aHUS2" RELATED [MONDO:Lexical] +synonym: "atypical HUS with MCP/CD46 anomaly" EXACT [] +synonym: "D-HUS with MCP/CD46 anomaly" EXACT [] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 2" RELATED [MONDO:Lexical] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly" EXACT [] synonym: "hemolytic-uremic syndrome without diarrhoea with MCP/CD46 anomaly" EXACT OMO:0003005 [] -synonym: "susceptibility to atypical hemolytic uremic syndrome 2" RELATED [OMIM:612922] +synonym: "susceptibility to atypical hemolytic uremic syndrome 2" RELATED [] xref: GARD:18552 {source="MONDO:GARD"} xref: ICD10CM:D58.8 {source="Orphanet:93576", source="Orphanet:93576/attributed", source="Orphanet:93576/ntbt"} xref: MEDGEN:414167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297781,17 +297834,17 @@ subset: ordo_etiological_subtype {source="Orphanet:93580"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "aHUS with I factor anomaly" EXACT [Orphanet:93580] -synonym: "aHUS, susceptibility to, 3" RELATED [OMIM:612923] -synonym: "AHUS3" RELATED ABBREVIATION [OMIM:612923] -synonym: "aHUS3" RELATED [MONDO:Lexical, OMIM:612923] -synonym: "atypical HUS with I factor anomaly" EXACT [Orphanet:93580] -synonym: "D-HUS with I factor anomaly" EXACT [Orphanet:93580] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 3" RELATED [MONDO:Lexical, OMIM:612923] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612923] -synonym: "hemolytic-uremic syndrome without diarrhea with I factor anomaly" EXACT [Orphanet:93580] +synonym: "aHUS with I factor anomaly" EXACT [] +synonym: "aHUS, susceptibility to, 3" RELATED [] +synonym: "AHUS3" RELATED ABBREVIATION [] +synonym: "aHUS3" RELATED [MONDO:Lexical] +synonym: "atypical HUS with I factor anomaly" EXACT [] +synonym: "D-HUS with I factor anomaly" EXACT [] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 3" RELATED [MONDO:Lexical] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "hemolytic-uremic syndrome without diarrhea with I factor anomaly" EXACT [] synonym: "hemolytic-uremic syndrome without diarrhoea with I factor anomaly" EXACT OMO:0003005 [] -synonym: "susceptibility to atypical hemolytic uremic syndrome 3" RELATED [OMIM:612923] +synonym: "susceptibility to atypical hemolytic uremic syndrome 3" RELATED [] xref: GARD:18553 {source="MONDO:GARD"} xref: ICD10CM:D58.8 {source="Orphanet:93580/attributed", source="Orphanet:93580/ntbt", source="Orphanet:93580"} xref: MEDGEN:414542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297814,17 +297867,17 @@ subset: ordo_etiological_subtype {source="Orphanet:93578"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "aHUS with B factor anomaly" EXACT [Orphanet:93578] -synonym: "aHUS, susceptibility to, 4" RELATED [OMIM:612924] -synonym: "AHUS4" RELATED ABBREVIATION [OMIM:612924] -synonym: "aHUS4" RELATED [MONDO:Lexical, OMIM:612924] -synonym: "atypical HUS with B factor anomaly" EXACT [Orphanet:93578] -synonym: "D-HUS with B factor anomaly" EXACT [Orphanet:93578] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 4" RELATED [MONDO:Lexical, OMIM:612924] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612924] -synonym: "hemolytic-uremic syndrome without diarrhea with B factor anomaly" EXACT [Orphanet:93578] +synonym: "aHUS with B factor anomaly" EXACT [] +synonym: "aHUS, susceptibility to, 4" RELATED [] +synonym: "AHUS4" RELATED ABBREVIATION [] +synonym: "aHUS4" RELATED [MONDO:Lexical] +synonym: "atypical HUS with B factor anomaly" EXACT [] +synonym: "D-HUS with B factor anomaly" EXACT [] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 4" RELATED [MONDO:Lexical] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 4" EXACT [MONDORULE:1] +synonym: "hemolytic-uremic syndrome without diarrhea with B factor anomaly" EXACT [] synonym: "hemolytic-uremic syndrome without diarrhoea with B factor anomaly" EXACT OMO:0003005 [] -synonym: "susceptibility to atypical hemolytic uremic syndrome 4" RELATED [OMIM:612924] +synonym: "susceptibility to atypical hemolytic uremic syndrome 4" RELATED [] xref: GARD:18554 {source="MONDO:GARD"} xref: ICD10CM:D58.8 {source="Orphanet:93578", source="Orphanet:93578/attributed", source="Orphanet:93578/ntbt"} xref: MEDGEN:416691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297847,16 +297900,16 @@ subset: ordo_etiological_subtype {source="Orphanet:93575"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "aHUS with C3 anomaly" EXACT [Orphanet:93575] -synonym: "Ahus, susceptibility to, 5" RELATED [OMIM:612925] -synonym: "AHUS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612925] -synonym: "atypical HUS with C3 anomaly" EXACT [Orphanet:93575] -synonym: "D-HUS with C3 anomaly" EXACT [Orphanet:93575] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 5" RELATED [MONDO:Lexical, OMIM:612925] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612925] -synonym: "hemolytic-uremic syndrome without diarrhea with C3 anomaly" EXACT [Orphanet:93575] +synonym: "aHUS with C3 anomaly" EXACT [] +synonym: "Ahus, susceptibility to, 5" RELATED [] +synonym: "AHUS5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "atypical HUS with C3 anomaly" EXACT [] +synonym: "D-HUS with C3 anomaly" EXACT [] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 5" RELATED [MONDO:Lexical] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 5" EXACT [MONDORULE:1] +synonym: "hemolytic-uremic syndrome without diarrhea with C3 anomaly" EXACT [] synonym: "hemolytic-uremic syndrome without diarrhoea with C3 anomaly" EXACT OMO:0003005 [] -synonym: "susceptibility to atypical hemolytic uremic syndrome 5" RELATED [OMIM:612925] +synonym: "susceptibility to atypical hemolytic uremic syndrome 5" RELATED [] xref: GARD:18555 {source="MONDO:GARD"} xref: ICD10CM:D58.8 {source="Orphanet:93575/attributed", source="Orphanet:93575/ntbt", source="Orphanet:93575"} xref: MEDGEN:442875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297879,16 +297932,16 @@ subset: ordo_etiological_subtype {source="Orphanet:217023"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "aHUS with thrombomodulin anomaly" EXACT [Orphanet:217023] -synonym: "Ahus, susceptibility to, 6" RELATED [OMIM:612926] -synonym: "AHUS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612926] -synonym: "atypical HUS with thrombomodulin anomaly" EXACT [Orphanet:217023] -synonym: "D-HUS with thrombomodulin anomaly" EXACT [Orphanet:217023] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 6" RELATED [MONDO:Lexical, OMIM:612926] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612926] -synonym: "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly" EXACT [Orphanet:217023] +synonym: "aHUS with thrombomodulin anomaly" EXACT [] +synonym: "Ahus, susceptibility to, 6" RELATED [] +synonym: "AHUS6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "atypical HUS with thrombomodulin anomaly" EXACT [] +synonym: "D-HUS with thrombomodulin anomaly" EXACT [] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 6" RELATED [MONDO:Lexical] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, type 6" EXACT [MONDORULE:1] +synonym: "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly" EXACT [] synonym: "hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly" EXACT OMO:0003005 [] -synonym: "susceptibility to atypical hemolytic uremic syndrome 6" RELATED [OMIM:612926] +synonym: "susceptibility to atypical hemolytic uremic syndrome 6" RELATED [] xref: GARD:18556 {source="MONDO:GARD"} xref: ICD10CM:D58.8 {source="Orphanet:217023", source="Orphanet:217023/attributed", source="Orphanet:217023/ntbt"} xref: MEDGEN:414541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -297904,8 +297957,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013045 name: Mycobacterium tuberculosis, susceptibility to, 3 subset: predisposition -synonym: "MTBS3" RELATED ABBREVIATION [OMIM:612929] -synonym: "Mycobacterium tuberculosis, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612929] +synonym: "MTBS3" RELATED ABBREVIATION [] +synonym: "Mycobacterium tuberculosis, susceptibility to, type 3" EXACT [MONDORULE:1] xref: MEDGEN:416690 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612929 {source="MONDO:equivalentTo"} xref: UMLS:C2752035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416690"} @@ -297922,17 +297975,17 @@ subset: ordo_disorder {source="Orphanet:99849"} subset: orphanet_rare {source="Orphanet:99849"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "enolase 3 deficiency" RELATED [OMIM:612932] -synonym: "enolase-Beta deficiency" RELATED [OMIM:612932] -synonym: "glycogen storage disease 13" RELATED [GARD:0002125, OMIM:612932] -synonym: "glycogen storage disease due to muscle beta-enolase deficiency" EXACT CLINGEN_LABEL [] -synonym: "glycogen storage disease type 13" EXACT [MONDORULE:2, OMIM:612932] -synonym: "glycogen storage disease XIII" RELATED [MONDO:Lexical, OMIM:612932] +synonym: "enolase 3 deficiency" RELATED [] +synonym: "enolase-Beta deficiency" RELATED [] +synonym: "glycogen storage disease 13" RELATED [GARD:0002125] +synonym: "glycogen storage disease due to muscle beta-enolase deficiency" EXACT CLINGEN_LABEL [icd11.foundation:821809975, Orphanet:99849] +synonym: "glycogen storage disease type 13" EXACT [icd11.foundation:821809975, MONDORULE:2] +synonym: "glycogen storage disease XIII" RELATED [MONDO:Lexical] synonym: "glycogenosis due to muscle beta-enolase deficiency" EXACT [Orphanet:99849] -synonym: "glycogenosis type 13" EXACT [Orphanet:99849] -synonym: "GSD 13" RELATED [OMIM:612932] +synonym: "glycogenosis type 13" EXACT [icd11.foundation:821809975, Orphanet:99849] +synonym: "GSD 13" RELATED [] synonym: "GSD due to muscle beta-enolase deficiency" EXACT [Orphanet:99849] -synonym: "GSD13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612932] +synonym: "GSD13" RELATED ABBREVIATION [MONDO:Lexical] synonym: "GSDXIII" EXACT ABBREVIATION [Orphanet:99849] synonym: "muscle enolase deficiency" EXACT [Orphanet:99849] synonym: "muscular enolase deficiency" EXACT [Orphanet:99849] @@ -297961,15 +298014,15 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:284426"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glycogen storage disease caused by mutation in LDHA" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [MONDORULE:2, OMIM:612933, Orphanet:284426] -synonym: "glycogen storage disease XI" RELATED AMBIGUOUS [GARD:0003160, MESH:C538133, OMIM:612933] +synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [MONDORULE:2] +synonym: "glycogen storage disease XI" RELATED AMBIGUOUS [GARD:0003160, MESH:C538133] synonym: "glycogenosis due to lactate dehydrogenase M-subunit deficiency" EXACT [Orphanet:284426] -synonym: "glycogenosis type 11" RELATED AMBIGUOUS [Orphanet:284426] -synonym: "GSD 11" RELATED AMBIGUOUS [OMIM:612933] +synonym: "glycogenosis type 11" RELATED AMBIGUOUS [] +synonym: "GSD 11" RELATED AMBIGUOUS [] synonym: "GSD due to lactate dehydrogenase M-subunit deficiency" EXACT [Orphanet:284426] -synonym: "GSD type 11" RELATED AMBIGUOUS [Orphanet:284426] +synonym: "GSD type 11" RELATED AMBIGUOUS [] synonym: "GSD XI" RELATED [MESH:C538133] -synonym: "GSD11" RELATED AMBIGUOUS [MESH:C538133, OMIM:612933] +synonym: "GSD11" RELATED AMBIGUOUS [MESH:C538133] synonym: "lactate dehydrogenase A deficiency" EXACT [MESH:C538133, OMIM:612933, Orphanet:284426] synonym: "lactate dehydrogenase deficiency type A" RELATED [GARD:0003160] synonym: "LDH-M subunit deficiency" EXACT [Orphanet:284426] @@ -298006,13 +298059,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AP4M1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 50" EXACT [DOID:0110802] -synonym: "cerebral palsy, spastic quadriplegic, 3" RELATED [OMIM:612936] -synonym: "cerebral palsy, spastic quadriplegic, 3, formerly" RELATED [OMIM:612936] -synonym: "CPSQ3" RELATED EXCLUDE [DOID:0110802] +synonym: "cerebral palsy, spastic quadriplegic, 3" RELATED [] +synonym: "cerebral palsy, spastic quadriplegic, 3, formerly" RELATED [] +synonym: "CPSQ3" RELATED EXCLUDE [] synonym: "hereditary spastic paraplegia caused by mutation in AP4M1" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 50" EXACT [DOID:0110802, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 50" EXACT [MONDORULE:2] synonym: "Spastic Paraplegia 50" EXACT [NORD:1989] -synonym: "spastic paraplegia 50, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612936] +synonym: "spastic paraplegia 50, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG50" EXACT ABBREVIATION [DOID:0110802, MONDO:Lexical, OMIM:612936] xref: DOID:0110802 {source="MONDO:equivalentTo"} xref: GARD:15592 {source="MONDO:GARD"} @@ -298038,20 +298091,20 @@ subset: orphanet_rare {source="Orphanet:263494"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carbohydrate deficient glycoprotein syndrome type Io" EXACT [Orphanet:263494] -synonym: "CDG Io" RELATED [OMIM:612937] +synonym: "CDG Io" RELATED [] synonym: "CDG syndrome type Io" EXACT [Orphanet:263494] synonym: "CDG-Io" EXACT [Orphanet:263494] -synonym: "Cdg1(Dpm3)" RELATED [OMIM:612937] -synonym: "CDG1O" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612937, Orphanet:263494] +synonym: "Cdg1(Dpm3)" RELATED [] +synonym: "CDG1O" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:263494] synonym: "CDGIo" RELATED [GARD:0012395] synonym: "congenital disorder of glycosylation type 1o" EXACT [Orphanet:263494] synonym: "congenital disorder of glycosylation type Io" EXACT [Orphanet:263494] -synonym: "congenital disorder of glycosylation, type Io" RELATED [MONDO:Lexical, OMIM:612937] +synonym: "congenital disorder of glycosylation, type Io" RELATED [MONDO:Lexical] synonym: "DG1O" RELATED ABBREVIATION [GARD:0012395] synonym: "DPM3-CDG" EXACT ABBREVIATION [Orphanet:263494] synonym: "DPM3-CDG (CDG-Io)" RELATED [GARD:0012395] synonym: "DPM3-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" EXACT [OMIM:612937, OMIM:genemap2] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" EXACT [OMIM:612937] xref: GARD:12395 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:263494/attributed", source="Orphanet:263494/ntbt", source="Orphanet:263494"} xref: MEDGEN:414534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -298079,9 +298132,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:210144"} subset: orphanet_rare {source="Orphanet:210144"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GDFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612938] -synonym: "growth retardation, developmental delay, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:612938] -synonym: "growth retardation, developmental delay, facial dysmorphism" EXACT [OMIM:612938, OMIM:genemap2] +synonym: "GDFD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "growth retardation, developmental delay, and facial dysmorphism" RELATED [MONDO:Lexical] +synonym: "growth retardation, developmental delay, facial dysmorphism" EXACT [] xref: GARD:17110 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:210144/attributed", source="Orphanet:210144/ntbt", source="Orphanet:210144"} xref: MEDGEN:414158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -298109,12 +298162,12 @@ synonym: "ARCL2, progeroid type" EXACT [DOID:0070137, Orphanet:357064] synonym: "ARCL2B" EXACT ABBREVIATION [DOID:0070137, MONDO:Lexical, OMIM:612940, Orphanet:357064] synonym: "autosomal recessive cutis laxa type 2 caused by mutation in PYCR1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive cutis laxa type 2, progeroid type" EXACT [Orphanet:357064] -synonym: "autosomal recessive cutis laxa type 2B" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive cutis laxa type IIB" RELATED [DOID:0070137] -synonym: "cutis laxa with progeroid features" RELATED [OMIM:612940] +synonym: "autosomal recessive cutis laxa type 2B" EXACT CLINGEN_LABEL [Orphanet:357064] +synonym: "autosomal recessive cutis laxa type IIB" RELATED [] +synonym: "cutis laxa with progeroid features" RELATED [] synonym: "cutis laxa, autosomal recessive type 2B" RELATED [GARD:0001641] -synonym: "cutis laxa, autosomal recessive, type 2B" RELATED [OMIM:612940] -synonym: "cutis laxa, autosomal recessive, type IIB" RELATED [MONDO:Lexical, OMIM:612940] +synonym: "cutis laxa, autosomal recessive, type 2B" RELATED [] +synonym: "cutis laxa, autosomal recessive, type IIB" RELATED [MONDO:Lexical] synonym: "PYCR1 autosomal recessive cutis laxa type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070137 {source="MONDO:equivalentTo"} xref: GARD:1641 {source="MONDO:GARD"} @@ -298142,9 +298195,9 @@ subset: gard_rare {source="GARD:15593", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "KLHL7 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 42" EXACT [MONDO:Lexical, OMIM:612943] +synonym: "retinitis pigmentosa 42" EXACT [DOID:0110386, MONDO:Lexical, OMIM:612943] synonym: "retinitis pigmentosa caused by mutation in KLHL7" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 42" EXACT [DOID:0110386, MONDORULE:2, OMIM:612943] +synonym: "retinitis pigmentosa type 42" EXACT [MONDORULE:2] synonym: "RP42" EXACT ABBREVIATION [DOID:0110386, MONDO:Lexical, OMIM:612943] xref: DOID:0110386 {source="MONDO:equivalentTo"} xref: GARD:15593 {source="MONDO:GARD"} @@ -298198,8 +298251,8 @@ id: MONDO:0013055 name: Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features synonym: "Stargardt macular degeneration absent or hypoplastic corpus callosum intellectual disability and dysmorphic features" RELATED [GARD:0010683] synonym: "Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features" RELATED DEPRECATED [GARD:0010683] -synonym: "Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features" EXACT [OMIM:612948] -synonym: "Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features" EXACT DEPRECATED [OMIM:612948] +synonym: "Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features" EXACT [] +synonym: "Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features" EXACT DEPRECATED [] xref: MEDGEN:1680314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C548086 {source="MONDO:equivalentTo"} xref: OMIM:612948 {source="MONDO:equivalentTo"} @@ -298217,16 +298270,16 @@ subset: ordo_disorder {source="Orphanet:353217"} subset: orphanet_rare {source="Orphanet:353217"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AGC1 deficiency" EXACT [DOID:0080349] -synonym: "aspartate-glutamate carrier 1 deficiency" RELATED [OMIM:612949] +synonym: "AGC1 deficiency" EXACT [DOID:0080349, OMIM:612949, Orphanet:353217] +synonym: "aspartate-glutamate carrier 1 deficiency" RELATED [] synonym: "DEE39" EXACT ABBREVIATION [OMIM:612949] -synonym: "developmental and epileptic encephalopathy 39" EXACT [OMIM:612949, OMIM:genemap2] -synonym: "early infantile epileptic encephalopathy caused by mutation in SLC25A12" EXACT [Orphanet:353217] -synonym: "EIEE39" EXACT ABBREVIATION [OMIM:612949] -synonym: "epileptic encephalopathy with global cerebral demyelination" EXACT [DOID:0080349] +synonym: "developmental and epileptic encephalopathy 39" EXACT [DOID:0080349] +synonym: "early infantile epileptic encephalopathy caused by mutation in SLC25A12" EXACT [] +synonym: "EIEE39" EXACT ABBREVIATION [] +synonym: "epileptic encephalopathy with global cerebral demyelination" EXACT [DOID:0080349, Orphanet:353217] synonym: "epileptic encephalopathy, early infantile, 39" EXACT [OMIM:612949] -synonym: "hypomyelination, global cerebral" RELATED [OMIM:612949] -synonym: "mitochondrial aspartate-glutamate carrier 1 deficiency" EXACT [DOID:0080349, Orphanet:353217] +synonym: "hypomyelination, global cerebral" RELATED [] +synonym: "mitochondrial aspartate-glutamate carrier 1 deficiency" EXACT [Orphanet:353217] synonym: "SLC25A12 early infantile epileptic encephalopathy" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0080349 {source="MONDO:equivalentTo"} xref: GARD:17532 {source="MONDO:GARD"} @@ -298250,8 +298303,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013057 name: psoriasis 12, susceptibility to synonym: "psoriasis 12, susceptibility to" EXACT [MONDO:Lexical, OMIM:612950] -synonym: "psoriasis susceptibility 12" EXACT [OMIM:612950, OMIM:genemap2] -synonym: "PSORS12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612950] +synonym: "psoriasis susceptibility 12" EXACT [] +synonym: "PSORS12" EXACT ABBREVIATION [DOID:0111291, MONDO:Lexical, OMIM:612950] xref: DOID:0111291 {source="MONDO:equivalentTo"} xref: MEDGEN:414124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612950 {source="MONDO:equivalentTo"} @@ -298273,7 +298326,7 @@ subset: orphanet_rare {source="Orphanet:85136"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CLWM" EXACT ABBREVIATION [Orphanet:85136] -synonym: "leukoencephalopathy, cystic, without megalencephaly" RELATED [OMIM:612951] +synonym: "leukoencephalopathy, cystic, without megalencephaly" RELATED [] synonym: "RNAse T2-deficient leukoencephalopathy" RELATED [GARD:0013199] xref: DOID:0081007 {source="MONDO:equivalentTo"} xref: GARD:13199 {source="MONDO:GARD"} @@ -298295,10 +298348,10 @@ def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a muta subset: gard_rare {source="GARD:10151", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AGS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612952] -synonym: "Aicardi-Goutieres syndrome 5" EXACT [MONDO:Lexical, OMIM:612952] +synonym: "AGS5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Aicardi-Goutieres syndrome 5" EXACT [MONDO:Lexical, NCIT:C168564, OMIM:612952] synonym: "Aicardi-Goutieres syndrome caused by mutation in SAMHD1" EXACT [MONDO:design_pattern] -synonym: "Aicardi-Goutieres syndrome type 5" EXACT [MONDORULE:1, OMIM:612952] +synonym: "Aicardi-Goutieres syndrome type 5" EXACT [MONDORULE:1] synonym: "SAMHD1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SAMHD1-related Aicardi-Goutieres syndrome" RELATED [GARD:0010151] xref: GARD:10151 {source="MONDO:GARD"} @@ -298327,15 +298380,15 @@ subset: ordo_disorder {source="Orphanet:199351"} subset: orphanet_rare {source="Orphanet:199351"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult-onset dystonia - parkinsonism" RELATED [Orphanet:199351] -synonym: "autosomal recessive Parkinson disease type 14" EXACT [DOID:0060900, MONDORULE:2] -synonym: "autosomal recessive Parkinson's disease 14" RELATED [DOID:0060900] +synonym: "adult-onset dystonia - parkinsonism" RELATED [] +synonym: "autosomal recessive Parkinson disease type 14" EXACT [MONDORULE:2] +synonym: "autosomal recessive Parkinson's disease 14" RELATED [] synonym: "dystonia-Parkinsonism Adult-onset" EXACT [DOID:0060900] -synonym: "dystonia-Parkinsonism, adult-onset" RELATED [OMIM:612953] +synonym: "dystonia-Parkinsonism, adult-onset" RELATED [] synonym: "dystonia-parkinsonism, Paisan-Ruiz type" EXACT [Orphanet:199351] synonym: "hereditary late onset Parkinson disease caused by mutation in PLA2G6" EXACT [MONDO:design_pattern] synonym: "PARK14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612953, Orphanet:199351] -synonym: "Parkinson disease 14, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612953] +synonym: "Parkinson disease 14, autosomal recessive" RELATED [MONDO:Lexical] synonym: "PLA2G6 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PLA2G6-related dystonia-parkinsonism" EXACT [Orphanet:199351] xref: DOID:0060900 {source="MONDO:equivalentTo"} @@ -298368,14 +298421,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BAG3 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "BAG3-related myofibrillar myopathy" RELATED [DOID:0080097] -synonym: "MFM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612954] -synonym: "muscular dystrophy, Selcen type" RELATED [Orphanet:199340] +synonym: "MFM6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "muscular dystrophy, Selcen type" RELATED [] synonym: "myofibrillar myopathy (disease) caused by mutation in BAG3" EXACT [] -synonym: "myofibrillar myopathy 6" EXACT CLINGEN_LABEL [] -synonym: "myofibrillar myopathy type 6" EXACT [DOID:0080097, MONDORULE:1] -synonym: "myopathy, myofibrillar, 6" RELATED [MONDO:Lexical, OMIM:612954] -synonym: "myopathy, myofibrillar, Bag3-related" RELATED [OMIM:612954] -synonym: "myopathy, myofibrillar, type 6" EXACT [MONDORULE:1, OMIM:612954] +synonym: "myofibrillar myopathy 6" EXACT CLINGEN_LABEL [DOID:0080097] +synonym: "myofibrillar myopathy type 6" EXACT [MONDORULE:1] +synonym: "myopathy, myofibrillar, 6" RELATED [MONDO:Lexical] +synonym: "myopathy, myofibrillar, Bag3-related" RELATED [] +synonym: "myopathy, myofibrillar, type 6" EXACT [MONDORULE:1] xref: DOID:0080097 {source="MONDO:equivalentTo"} xref: GARD:17096 {source="MONDO:GARD"} xref: ICD10CM:G71.8 {source="Orphanet:199340", source="Orphanet:199340/attributed", source="Orphanet:199340/ntbt"} @@ -298398,9 +298451,9 @@ subset: gard_rare {source="GARD:15595", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "long QT syndrome 12" EXACT [MONDO:Lexical, OMIM:612955] +synonym: "long QT syndrome 12" EXACT [DOID:0110653, MONDO:Lexical, OMIM:612955] synonym: "long QT syndrome caused by mutation in SNTA1" EXACT [MONDO:design_pattern] -synonym: "long QT syndrome type 12" EXACT [DOID:0110653, MONDORULE:2, OMIM:612955] +synonym: "long QT syndrome type 12" EXACT [MONDORULE:2] synonym: "LQT12" EXACT ABBREVIATION [DOID:0110653, MONDO:Lexical, OMIM:612955] synonym: "SNTA1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110653 {source="MONDO:equivalentTo"} @@ -298427,8 +298480,8 @@ subset: rare synonym: "DPP6 ventricular fibrillation (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ventricular fibrillation (disease) caused by mutation in DPP6" EXACT [] synonym: "ventricular fibrillation, paroxysmal familial, 2" EXACT [MONDO:Lexical, OMIM:612956] -synonym: "ventricular fibrillation, paroxysmal familial, type 2" EXACT [MONDORULE:1, OMIM:612956] -synonym: "VF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612956] +synonym: "ventricular fibrillation, paroxysmal familial, type 2" EXACT [MONDORULE:1] +synonym: "VF2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15596 {source="MONDO:GARD"} xref: MEDGEN:442823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567841 {source="MONDO:equivalentTo"} @@ -298448,10 +298501,10 @@ subset: gard_rare {source="GARD:15597", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FGF9 multiple synostoses syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "multiple synostoses syndrome 3" EXACT [MONDO:Lexical, OMIM:612961] +synonym: "multiple synostoses syndrome 3" EXACT [DOID:0081319, MONDO:Lexical, OMIM:612961] synonym: "multiple synostoses syndrome caused by mutation in FGF9" EXACT [MONDO:design_pattern] -synonym: "multiple synostoses syndrome type 3" EXACT [MONDORULE:1, OMIM:612961] -synonym: "SYNS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612961] +synonym: "multiple synostoses syndrome type 3" EXACT [MONDORULE:1] +synonym: "SYNS3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081319 {source="MONDO:equivalentTo"} xref: GARD:15597 {source="MONDO:GARD"} xref: MEDGEN:414116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -298472,12 +298525,12 @@ def: "Any primary ovarian failure in which the cause of the disease is a mutatio subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "adrenal insufficiency, Nr5A1-related" RELATED [OMIM:612964] -synonym: "adrenocortical insufficiency" BROAD [OMIM:612964, OMIM:genemap2] +synonym: "adrenal insufficiency, Nr5A1-related" RELATED [] +synonym: "adrenocortical insufficiency" BROAD [] synonym: "NR5A1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Pof7" RELATED [MONDO:Lexical, OMIM:612964] +synonym: "Pof7" RELATED [MONDO:Lexical] synonym: "premature ovarian failure 7" EXACT [MONDO:Lexical, OMIM:612964] -synonym: "premature ovarian failure type 7" EXACT [MONDORULE:1, OMIM:612964] +synonym: "premature ovarian failure type 7" EXACT [MONDORULE:1] synonym: "primary ovarian failure caused by mutation in NR5A1" EXACT [MONDO:design_pattern] xref: DOID:0080864 {source="MONDO:equivalentTo"} xref: MEDGEN:414115 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -298498,15 +298551,15 @@ name: 46,XY sex reversal 3 subset: gard_rare {source="GARD:15598", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure" RELATED [OMIM:612965] -synonym: "46,XY SEX reversal 3" RELATED [OMIM:612965] -synonym: "46,XY sex reversal 3" EXACT [MONDO:Lexical, OMIM:612965] -synonym: "46,XY Sex reversal type 3" EXACT [MONDORULE:1, OMIM:612965] -synonym: "46,XY Sex reversal, partial or complete, Nr5A1-related" RELATED [OMIM:612965] -synonym: "46XY sex reversal 3" EXACT [OMIM:612965, OMIM:genemap2] -synonym: "disorder of Sex development, 46,XY, Nr5A1-related" RELATED [OMIM:612965] -synonym: "Sex reversal, XY, with or without adrenal failure" RELATED [OMIM:612965] -synonym: "SRXY3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612965] +synonym: "46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure" RELATED [] +synonym: "46,XY SEX reversal 3" RELATED [] +synonym: "46,XY sex reversal 3" EXACT [DOID:0111772, MONDO:Lexical, OMIM:612965] +synonym: "46,XY Sex reversal type 3" EXACT [MONDORULE:1] +synonym: "46,XY Sex reversal, partial or complete, Nr5A1-related" RELATED [] +synonym: "46XY sex reversal 3" EXACT [] +synonym: "disorder of Sex development, 46,XY, Nr5A1-related" RELATED [] +synonym: "Sex reversal, XY, with or without adrenal failure" RELATED [] +synonym: "SRXY3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111772 {source="MONDO:equivalentTo"} xref: GARD:15598 {source="MONDO:GARD"} xref: MEDGEN:483746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -298529,9 +298582,9 @@ subset: rare synonym: "autosomal recessive congenital cataract 3" EXACT [DOID:0110230] synonym: "cataract (disease) caused by mutation in FOXE3" EXACT [] synonym: "cataract 34 multiple types with or without microcornea" EXACT [DOID:0110230] -synonym: "cataract 34, multiple types" RELATED [MONDO:Lexical, OMIM:612968] -synonym: "cataract 34, multiple types, with or without microcornea" RELATED [OMIM:612968] -synonym: "cataract, autosomal recessive congenital 3" RELATED [OMIM:612968] +synonym: "cataract 34, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract 34, multiple types, with or without microcornea" RELATED [] +synonym: "cataract, autosomal recessive congenital 3" RELATED [] synonym: "CATC3" EXACT ABBREVIATION [DOID:0110230] synonym: "CTRCT34" EXACT ABBREVIATION [DOID:0110230, MONDO:Lexical, OMIM:612968] synonym: "FOXE3 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] @@ -298554,7 +298607,7 @@ id: MONDO:0013068 name: age-related hearing impairment 2 synonym: "age-related hearing impairment 2" EXACT [MONDO:Lexical, OMIM:612976] synonym: "ARHI2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612976] -synonym: "presbycusis 2" RELATED [OMIM:612976] +synonym: "presbycusis 2" RELATED [] xref: MEDGEN:416639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567834 {source="MONDO:equivalentTo"} xref: OMIM:612976 {source="MONDO:equivalentTo"} @@ -298572,9 +298625,9 @@ subset: ordo_disorder {source="Orphanet:227976"} subset: orphanet_rare {source="Orphanet:227976"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OPA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612989] -synonym: "optic atrophy 7" EXACT [OMIM:612989, OMIM:genemap2] -synonym: "optic atrophy 7 with or without auditory neuropathy" RELATED [MONDO:Lexical, OMIM:612989] +synonym: "OPA7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "optic atrophy 7" EXACT [DOID:0111437] +synonym: "optic atrophy 7 with or without auditory neuropathy" RELATED [MONDO:Lexical] synonym: "TMEM126A-related optic atrophy with or without extraocular features" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40077/, https://orcid.org/0009-0007-1636-9645] xref: DOID:0111437 {source="MONDO:equivalentTo"} xref: GARD:17143 {source="MONDO:GARD"} @@ -298595,10 +298648,10 @@ id: MONDO:0013070 name: spermatogenic failure 7 subset: gard_rare {source="GARD:18400", source="MONDO:GARD"} subset: rare -synonym: "Male infertility, nonsyndromic, autosomal recessive" RELATED [OMIM:612997] -synonym: "spermatogenic failure 7" EXACT [MONDO:Lexical, OMIM:612997] -synonym: "spermatogenic failure type 7" EXACT [MONDORULE:1, OMIM:612997] -synonym: "SPGF7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612997] +synonym: "Male infertility, nonsyndromic, autosomal recessive" RELATED [] +synonym: "spermatogenic failure 7" EXACT [DOID:0070173, MONDO:Lexical, OMIM:612997] +synonym: "spermatogenic failure type 7" EXACT [MONDORULE:1] +synonym: "SPGF7" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070173 {source="MONDO:equivalentTo"} xref: GARD:18400 {source="MONDO:GARD"} xref: MEDGEN:414478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -298617,10 +298670,10 @@ subset: gard_rare {source="GARD:18206", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1" EXACT [MONDO:design_pattern] -synonym: "EDMD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612998] -synonym: "Emery-Dreifuss muscular dystrophy 4 with variable features" RELATED [OMIM:612998] -synonym: "EMERY-Dreifuss muscular dystrophy 4, autosomal dominant" RELATED [OMIM:612998] -synonym: "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612998] +synonym: "EDMD4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Emery-Dreifuss muscular dystrophy 4 with variable features" RELATED [] +synonym: "EMERY-Dreifuss muscular dystrophy 4, autosomal dominant" RELATED [] +synonym: "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" EXACT [DOID:0070249, MONDO:Lexical, OMIM:612998] synonym: "SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070249 {source="MONDO:equivalentTo"} xref: GARD:18206 {source="MONDO:GARD"} @@ -298644,9 +298697,9 @@ subset: gard_rare {source="GARD:18207", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2" EXACT [MONDO:design_pattern] -synonym: "EDMD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612999] -synonym: "EMERY-Dreifuss muscular dystrophy 5, autosomal dominant" RELATED [OMIM:612999] -synonym: "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612999] +synonym: "EDMD5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "EMERY-Dreifuss muscular dystrophy 5, autosomal dominant" RELATED [] +synonym: "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" EXACT [DOID:0070250, MONDO:Lexical, OMIM:612999] synonym: "SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070250 {source="MONDO:equivalentTo"} xref: GARD:18207 {source="MONDO:GARD"} @@ -298668,15 +298721,15 @@ def: "Any nonepidermolytic palmoplantar keratoderma in which the cause of the di subset: gard_rare {source="GARD:18487", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "FNEPPK1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613000] -synonym: "focal nonepidermolytic palmoplantar keratoderma" RELATED [OMIM:613000] -synonym: "keratoderma, focal nonepidermolytic palmoplantar" RELATED [OMIM:613000] +synonym: "FNEPPK1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "focal nonepidermolytic palmoplantar keratoderma" RELATED [] +synonym: "keratoderma, focal nonepidermolytic palmoplantar" RELATED [] synonym: "KRT16 nonepidermolytic palmoplantar keratoderma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16" EXACT [MONDO:design_pattern] -synonym: "palmoplantar keratoderma, nonepidermolytic, focal" EXACT [OMIM:613000, OMIM:genemap2] +synonym: "palmoplantar keratoderma, nonepidermolytic, focal" EXACT [] synonym: "palmoplantar keratoderma, nonepidermolytic, focal 1" EXACT [MONDO:Lexical, OMIM:613000] -synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 1" EXACT [MONDORULE:1, OMIM:613000] -synonym: "Ppkfne" RELATED [OMIM:613000] +synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 1" EXACT [MONDORULE:1] +synonym: "Ppkfne" RELATED [] xref: DOID:0111709 {source="MONDO:equivalentTo"} xref: GARD:18487 {source="MONDO:GARD"} xref: MEDGEN:1644485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -298703,10 +298756,10 @@ subset: orphanet_rare {source="Orphanet:2396"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ECCL" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C4701, OMIM:613001] -synonym: "encephalocraniocutaneous lipomatosis" EXACT [MONDO:Lexical, NCIT:C4701, OMIM:613001] -synonym: "encephalocraniocutaneous lipomatosis, somatic mosaic" EXACT [OMIM:613001, OMIM:genemap2] -synonym: "Fishman syndrome" EXACT [GARD:0002108, NCIT:C4701] -synonym: "Haberland syndrome" EXACT [Orphanet:2396] +synonym: "encephalocraniocutaneous lipomatosis" EXACT [icd11.foundation:1084215843, MONDO:Lexical, NCIT:C4701, OMIM:613001, Orphanet:2396] +synonym: "encephalocraniocutaneous lipomatosis, somatic mosaic" EXACT [] +synonym: "Fishman syndrome" EXACT [GARD:0002108, icd11.foundation:1084215843, NCIT:C4701] +synonym: "Haberland syndrome" EXACT [icd11.foundation:1084215843, Orphanet:2396] xref: GARD:2108 {source="MONDO:GARD"} xref: ICD10CM:E88.2 {source="Orphanet:2396", source="Orphanet:2396/attributed", source="Orphanet:2396/ntbt"} xref: icd11.foundation:1084215843 {source="MONDO:equivalentTo"} @@ -298729,12 +298782,12 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2108/encepha id: MONDO:0013075 name: herpes simplex encephalitis, susceptibility to, 2 subset: predisposition -synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2" RELATED [OMIM:613002] -synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2" RELATED [OMIM:613002] -synonym: "encephalopathy, acute, infection-induced, susceptibility to, 2" RELATED [OMIM:613002] -synonym: "herpes simplex encephalitis, susceptibility to, 2" EXACT [OMIM:613002] -synonym: "Herpes simplex encephalitis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613002] -synonym: "IIAE2" RELATED ABBREVIATION [OMIM:613002] +synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2" RELATED [] +synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2" RELATED [] +synonym: "encephalopathy, acute, infection-induced, susceptibility to, 2" RELATED [] +synonym: "herpes simplex encephalitis, susceptibility to, 2" EXACT [] +synonym: "Herpes simplex encephalitis, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "IIAE2" RELATED ABBREVIATION [] xref: Orphanet:1930 {source="OMIM:613002"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: excluded_subClassOf MONDO:0000166 {source="OMIM:613002", source="https://orcid.org/0000-0001-5208-3432"} ! encephalopathy, acute, infection-induced @@ -298749,8 +298802,8 @@ name: attention deficit-hyperactivity disorder, susceptibility to, 7 subset: predisposition synonym: "ADHD7" EXACT ABBREVIATION [OMIM:613003] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 7" EXACT [OMIM:613003] -synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:613003] -synonym: "susceptibility to attention deficit-hyperactivity disorder 7" RELATED [OMIM:613003] +synonym: "attention Deficit-hyperactivity disorder, susceptibility to, type 7" EXACT [MONDORULE:1] +synonym: "susceptibility to attention deficit-hyperactivity disorder 7" RELATED [] xref: MEDGEN:416637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613003 {source="MONDO:equivalentTo"} xref: UMLS:C2751802 {source="MONDO:equivalentTo", source="MEDGEN:416637", source="MONDO:MEDGEN"} @@ -298762,7 +298815,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013077 name: Santos syndrome -synonym: "fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome" RELATED [OMIM:613005] +synonym: "fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome" RELATED [] synonym: "Santos syndrome" EXACT [OMIM:613005] xref: MEDGEN:414444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567819 {source="MONDO:equivalentTo"} @@ -298774,8 +298827,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0013078 name: type 1 diabetes mellitus 24 def: "An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31." [DOID:0110761, MONDO:patterns/inherited_susceptibility, PMID:19430480] -synonym: "diabetes mellitus, insulin-dependent, 24" RELATED [MONDO:Lexical, OMIM:613006] -synonym: "IDDM24" EXACT ABBREVIATION [DOID:0110761, MONDO:Lexical, OMIM:613006] +synonym: "diabetes mellitus, insulin-dependent, 24" RELATED [MONDO:Lexical] +synonym: "IDDM24" EXACT ABBREVIATION [DOID:0110761, MONDO:Lexical] synonym: "insulin-dependent diabetes mellitus 24" EXACT [DOID:0110761] xref: DOID:0110761 {source="MONDO:equivalentTo"} xref: ICD10CM:E10 {source="DOID:0110761"} @@ -298795,8 +298848,8 @@ name: primary biliary cholangitis 2 subset: gard_rare {source="GARD:15601", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "biliary cirrhosis, primary, 2" RELATED [MONDO:Lexical, OMIM:613007] -synonym: "PBC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613007] +synonym: "biliary cirrhosis, primary, 2" RELATED [MONDO:Lexical] +synonym: "PBC2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070359 {source="MONDO:equivalentTo"} xref: GARD:15601 {source="MONDO:GARD"} xref: MEDGEN:442791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -298812,8 +298865,8 @@ name: primary biliary cholangitis 3 subset: gard_rare {source="GARD:15602", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "biliary cirrhosis, primary, 3" RELATED [MONDO:Lexical, OMIM:613008] -synonym: "PBC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613008] +synonym: "biliary cirrhosis, primary, 3" RELATED [MONDO:Lexical] +synonym: "PBC3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070360 {source="MONDO:equivalentTo"} xref: GARD:15602 {source="MONDO:GARD"} xref: MEDGEN:414443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -298834,12 +298887,12 @@ subset: ordo_disorder {source="Orphanet:538963"} subset: orphanet_rare {source="Orphanet:538963"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ITK deficiency" EXACT [NCIT:C126344] +synonym: "ITK deficiency" EXACT [NCIT:C126344, Orphanet:538963] synonym: "ITK lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LPFS1" EXACT ABBREVIATION [DOID:0060707, MONDO:Lexical, OMIM:613011] -synonym: "lymphoproliferative syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613011] +synonym: "LPFS1" EXACT ABBREVIATION [DOID:0060707, MONDO:Lexical, NCIT:C126344, OMIM:613011] +synonym: "lymphoproliferative syndrome 1" EXACT CLINGEN_LABEL [DOID:0060707, MONDO:Lexical, NCIT:C126344, OMIM:613011] synonym: "lymphoproliferative syndrome caused by mutation in ITK" EXACT [MONDO:design_pattern] -synonym: "lymphoproliferative syndrome type 1" EXACT [DOID:0060707, MONDORULE:1, OMIM:613011] +synonym: "lymphoproliferative syndrome type 1" EXACT [MONDORULE:1] xref: DOID:0060707 {source="MONDO:equivalentTo"} xref: GARD:17979 {source="MONDO:GARD"} xref: ICD10CM:D47.9 {source="DOID:0060707"} @@ -298874,7 +298927,7 @@ subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare synonym: "Hirschsprung disease ganglioneuroblastoma" RELATED [GARD:0002695] -synonym: "neuroblastoma with Hirschsprung disease" RELATED [OMIM:613013] +synonym: "neuroblastoma with Hirschsprung disease" RELATED [] xref: GARD:2695 {source="MONDO:GARD"} xref: ICD10CM:Q43.1 {source="Orphanet:2151/attributed", source="Orphanet:2151/ntbt", source="Orphanet:2151"} xref: MEDGEN:1683967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -298895,11 +298948,11 @@ subset: inferred_rare subset: predisposition subset: rare synonym: "ALK neuroblastoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "NBLST3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613014] +synonym: "NBLST3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "neuroblastoma caused by mutation in ALK" EXACT [MONDO:design_pattern] synonym: "neuroblastoma, susceptibility to, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613014] -synonym: "neuroblastoma, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613014] -synonym: "susceptibility to neuroblastoma 3" RELATED [OMIM:613014] +synonym: "neuroblastoma, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "susceptibility to neuroblastoma 3" RELATED [] xref: MEDGEN:414083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613014 {source="MONDO:equivalentTo"} xref: Orphanet:635 {source="MONDO:relatedTo", source="OMIM:613014"} @@ -298965,11 +299018,11 @@ def: "Any bronchiectasis in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:18055", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BESC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613021] +synonym: "BESC2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "bronchiectasis caused by mutation in SCNN1A" EXACT [MONDO:design_pattern] synonym: "bronchiectasis with or without elevated sweat chloride 2" EXACT [MONDO:Lexical, OMIM:613021] -synonym: "bronchiectasis with or without elevated sweat chloride type 2" EXACT [MONDORULE:1, OMIM:613021] -synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:613021] +synonym: "bronchiectasis with or without elevated sweat chloride type 2" EXACT [MONDORULE:1] +synonym: "cystic fibrosis-like syndrome" RELATED [] synonym: "SCNN1A bronchiectasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080527 {source="MONDO:equivalentTo"} xref: GARD:18055 {source="MONDO:GARD"} @@ -299009,10 +299062,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013089 name: schizophrenia 13 def: "A schizophrenia that has material basis in a mutation on chromosome 15q13." [DOID:0070089] -synonym: "schizophrenia 13" EXACT [MONDO:Lexical, OMIM:613025] +synonym: "schizophrenia 13" EXACT [DOID:0070089, MONDO:Lexical, OMIM:613025] synonym: "schizophrenia susceptibility locus, chromosome 15Q13-q14-related" EXACT [OMIM:613025] -synonym: "schizophrenia, Neurophysiologic defect 1N" RELATED [OMIM:613025] -synonym: "schizophrenia, susceptibility to, 13" EXACT [OMIM:613025, OMIM:genemap2] +synonym: "schizophrenia, Neurophysiologic defect 1N" RELATED [] +synonym: "schizophrenia, susceptibility to, 13" EXACT [] synonym: "SCZD13" EXACT ABBREVIATION [DOID:0070089, MONDO:Lexical, OMIM:613025] xref: DOID:0070089 {source="MONDO:equivalentTo"} xref: MEDGEN:416605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -299035,9 +299088,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:217346"} subset: orphanet_rare {source="Orphanet:217346"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "19q13.11 microdeletion syndrome" EXACT [DOID:0060408] -synonym: "chromosome 19Q13.11 deletion syndrome, distal" RELATED [OMIM:613026] -synonym: "chromosome 19q13.11 deletion syndrome, distal" RELATED [OMIM:613026] +synonym: "19q13.11 microdeletion syndrome" EXACT [DOID:0060408, Orphanet:217346] +synonym: "chromosome 19Q13.11 deletion syndrome, distal" RELATED [] +synonym: "chromosome 19q13.11 deletion syndrome, distal" RELATED [] synonym: "Del(19)(q13.11)" EXACT [Orphanet:217346] synonym: "monosomy 19q13.11" EXACT [DOID:0060408, Orphanet:217346] xref: DOID:0060408 {source="MONDO:equivalentTo"} @@ -299067,11 +299120,11 @@ subset: gard_rare {source="GARD:18387", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "glycogen storage disease caused by mutation in PHKG2" EXACT [MONDO:design_pattern] -synonym: "glycogen storage disease IXc" EXACT CLINGEN_LABEL [https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:Lexical, OMIM:613027] -synonym: "glycogen storage disease type 9C" RELATED EXCLUDE [DOID:0111043] -synonym: "glycogen storage disease type IXc" EXACT [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDORULE:5, OMIM:613027] -synonym: "glycogenosis type 9C" RELATED EXCLUDE [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/] -synonym: "GSD IXc" RELATED [OMIM:613027] +synonym: "glycogen storage disease IXc" EXACT CLINGEN_LABEL [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:Lexical, OMIM:613027] +synonym: "glycogen storage disease type 9C" RELATED EXCLUDE [] +synonym: "glycogen storage disease type IXc" EXACT [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDORULE:5] +synonym: "glycogenosis type 9C" RELATED EXCLUDE [https://www.ncbi.nlm.nih.gov/books/NBK55061/] +synonym: "GSD IXc" RELATED [] synonym: "GSD type 9C" EXACT [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/] synonym: "GSD type IXc" EXACT [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/] synonym: "GSD9C" EXACT ABBREVIATION [DOID:0111043, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDO:Lexical, OMIM:613027] @@ -299099,8 +299152,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare synonym: "glioma susceptibility 2" EXACT [MONDO:Lexical, OMIM:613028] -synonym: "glioma susceptibility type 2" EXACT [MONDORULE:1, OMIM:613028] -synonym: "GLM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613028] +synonym: "glioma susceptibility type 2" EXACT [MONDORULE:1] +synonym: "GLM2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "malignant glioma caused by mutation in PTEN" EXACT [MONDO:design_pattern] synonym: "PTEN malignant glioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:414431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -299121,10 +299174,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare synonym: "BRCA2 malignant glioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "glioblastoma 3" EXACT [OMIM:613029, OMIM:genemap2] +synonym: "glioblastoma 3" EXACT [] synonym: "glioma susceptibility 3" EXACT [MONDO:Lexical, OMIM:613029] -synonym: "glioma susceptibility type 3" EXACT [MONDORULE:1, OMIM:613029] -synonym: "GLM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613029] +synonym: "glioma susceptibility type 3" EXACT [MONDORULE:1] +synonym: "GLM3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "malignant glioma caused by mutation in BRCA2" EXACT [MONDO:design_pattern] xref: MEDGEN:442777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613029 {source="MONDO:equivalentTo"} @@ -299199,8 +299252,8 @@ id: MONDO:0013098 name: noise induced hearing loss def: "A condition in which a person loses the ability to hear due to exposure to high intensity sound." [NCIT:C34664] subset: otar {source="MONDO:OTAR"} -synonym: "hearing loss, noise-induced, susceptibility to" RELATED [MONDO:Lexical, OMIM:613035] -synonym: "NIHL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613035] +synonym: "hearing loss, noise-induced, susceptibility to" RELATED [MONDO:Lexical] +synonym: "NIHL" RELATED ABBREVIATION [MONDO:Lexical] synonym: "noise-induced hearing loss" EXACT [NCIT:C34664] xref: EFO:1001254 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:388.12 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -299224,7 +299277,7 @@ subset: ordo_disorder {source="Orphanet:95494"} subset: orphanet_rare {source="Orphanet:95494"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined pituitary hormone deficiencies, genetic forms" RELATED [Orphanet:95494] +synonym: "combined pituitary hormone deficiencies, genetic forms" RELATED [] synonym: "familial congenital hypopituitarism" EXACT [Orphanet:95494] synonym: "familial hypopituitarism" RELATED [GARD:0002252] synonym: "genetic hypopituitarism" EXACT [MONDO:patterns/genetic] @@ -299293,19 +299346,19 @@ id: MONDO:0013103 name: epilepsy, idiopathic generalized, susceptibility to, 10 def: "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] subset: predisposition -synonym: "EIG10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613060] -synonym: "epilepsy, idiopathic generalized, 10" EXACT [OMIM:613060, OMIM:genemap2] +synonym: "EIG10" EXACT ABBREVIATION [DOID:0111292, MONDO:Lexical, OMIM:613060] +synonym: "epilepsy, idiopathic generalized, 10" EXACT [] synonym: "epilepsy, idiopathic generalized, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:613060] -synonym: "epilepsy, idiopathic generalized, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:613060] -synonym: "epilepsy, juvenile myoclonic, susceptibility to" EXACT [OMIM:613060, OMIM:genemap2] -synonym: "epilepsy, juvenile myoclonic, susceptibility to, 7" RELATED [OMIM:613060] -synonym: "GEFS+, type 5, susceptibility to" RELATED [OMIM:613060] -synonym: "GEFS+5, susceptibility to" RELATED [OMIM:613060] -synonym: "GEFSP5, susceptibility to" RELATED [OMIM:613060] +synonym: "epilepsy, idiopathic generalized, susceptibility to, type 10" EXACT [MONDORULE:2] +synonym: "epilepsy, juvenile myoclonic, susceptibility to" EXACT [] +synonym: "epilepsy, juvenile myoclonic, susceptibility to, 7" RELATED [] +synonym: "GEFS+, type 5, susceptibility to" RELATED [] +synonym: "GEFS+5, susceptibility to" RELATED [] +synonym: "GEFSP5, susceptibility to" RELATED [] synonym: "generalised epilepsy with febrile seizures plus, type 5, susceptibility to" RELATED OMO:0003005 [] -synonym: "generalized epilepsy with febrile seizures plus, type 5, susceptibility to" RELATED [OMIM:613060] +synonym: "generalized epilepsy with febrile seizures plus, type 5, susceptibility to" RELATED [] synonym: "susceptibility to idiopathic generalised epilepsy 10" EXACT OMO:0003005 [] -synonym: "susceptibility to idiopathic generalized epilepsy 10" EXACT [OMIM:613060] +synonym: "susceptibility to idiopathic generalized epilepsy 10" EXACT [] xref: DOID:0111292 {source="MONDO:equivalentTo"} xref: MEDGEN:414062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613060 {source="MONDO:equivalentTo"} @@ -299365,10 +299418,10 @@ id: MONDO:0013107 name: dermatitis, atopic, 7 def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 11q13.5." [DOID:0110103, MONDO:patterns/inherited_susceptibility, PMID:19349984] synonym: "ATOD7" EXACT ABBREVIATION [DOID:0110103, MONDO:Lexical, OMIM:613064] -synonym: "atopic dermatitis 7" EXACT [] -synonym: "atopic dermatitis type 7" EXACT [DOID:0110103, MONDORULE:1] -synonym: "dermatitis, ATOPIC, 7" RELATED [MONDO:Lexical, OMIM:613064] -synonym: "dermatitis, atopic, susceptibility to, 7" EXACT [OMIM:613064, OMIM:genemap2] +synonym: "atopic dermatitis 7" EXACT [DOID:0110103] +synonym: "atopic dermatitis type 7" EXACT [MONDORULE:1] +synonym: "dermatitis, ATOPIC, 7" RELATED [MONDO:Lexical] +synonym: "dermatitis, atopic, susceptibility to, 7" EXACT [] xref: DOID:0110103 {source="MONDO:equivalentTo"} xref: MEDGEN:414058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567796 {source="MONDO:equivalentTo"} @@ -299385,19 +299438,19 @@ name: leukemia, acute lymphocytic, susceptibility to, 1 subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare -synonym: "ALL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613065] -synonym: "All1" RELATED [OMIM:613065] -synonym: "leukemia, acute lymphoblastic" RELATED [MONDO:Lexical, OMIM:613065] -synonym: "leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to" RELATED [OMIM:613065] -synonym: "leukemia, acute lymphoblastic, somatic" EXACT [OMIM:613065, OMIM:genemap2] -synonym: "leukemia, acute lymphoblastic, susceptibility to, 1" RELATED [OMIM:613065] -synonym: "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic" EXACT [OMIM:613065, OMIM:genemap2] -synonym: "leukemia, acute lymphocytic, susceptibility to, 1" EXACT [OMIM:613065] -synonym: "leukemia, B-cell acute lymphoblastic, susceptibility to" RELATED [OMIM:613065] -synonym: "leukemia, T-cell acute lymphoblastic, somatic" EXACT [OMIM:613065, OMIM:genemap2] -synonym: "leukemia, T-cell acute lymphoblastic, susceptibility to" RELATED [OMIM:613065] -synonym: "leukemia, T-cell acute lymphocytic, somatic" EXACT [OMIM:613065, OMIM:genemap2] -synonym: "T-cell acute lymphoblastic leukemia, somatic" EXACT [OMIM:613065, OMIM:genemap2] +synonym: "ALL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "All1" RELATED [] +synonym: "leukemia, acute lymphoblastic" RELATED [MONDO:Lexical] +synonym: "leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to" RELATED [] +synonym: "leukemia, acute lymphoblastic, somatic" EXACT [] +synonym: "leukemia, acute lymphoblastic, susceptibility to, 1" RELATED [] +synonym: "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic" EXACT [] +synonym: "leukemia, acute lymphocytic, susceptibility to, 1" EXACT [] +synonym: "leukemia, B-cell acute lymphoblastic, susceptibility to" RELATED [] +synonym: "leukemia, T-cell acute lymphoblastic, somatic" EXACT [] +synonym: "leukemia, T-cell acute lymphoblastic, susceptibility to" RELATED [] +synonym: "leukemia, T-cell acute lymphocytic, somatic" EXACT [] +synonym: "T-cell acute lymphoblastic leukemia, somatic" EXACT [] xref: MEDGEN:442767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613065 {source="MONDO:equivalentTo"} xref: Orphanet:513 {source="OMIM:613065"} @@ -299415,8 +299468,8 @@ name: leukemia, acute lymphocytic, susceptibility to, 2 subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare -synonym: "ALL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613067] -synonym: "leukemia, acute lymphoblastic, susceptibility to, 2" RELATED [MONDO:Lexical, OMIM:613067] +synonym: "ALL2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "leukemia, acute lymphoblastic, susceptibility to, 2" RELATED [MONDO:Lexical] synonym: "leukemia, acute lymphocytic, susceptibility to, 2" EXACT [OMIM:613067] xref: MEDGEN:442766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613067 {source="MONDO:equivalentTo"} @@ -299439,10 +299492,10 @@ subset: orphanet_rare {source="Orphanet:217382"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebral folate deficiency syndrome" RELATED [GARD:0010594] -synonym: "cerebral folate receptor alpha deficiency" EXACT [] +synonym: "cerebral folate receptor alpha deficiency" EXACT [DOID:0050719] synonym: "cerebral folate transport deficiency" RELATED [GARD:0010594] -synonym: "neurodegeneration due to cerebral folate TRANSPORT deficiency" RELATED [OMIM:613068] -synonym: "neurodegenerative syndrome due to cerebral folate transport deficiency" EXACT CLINGEN_LABEL [] +synonym: "neurodegeneration due to cerebral folate TRANSPORT deficiency" RELATED [] +synonym: "neurodegenerative syndrome due to cerebral folate transport deficiency" EXACT CLINGEN_LABEL [icd11.foundation:1158040363, Orphanet:217382] xref: DOID:0050719 {source="MONDO:equivalentTo"} xref: GARD:10594 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:217382", source="Orphanet:217382/attributed", source="Orphanet:217382/ntbt"} @@ -299473,12 +299526,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute infantile liver failure" BROAD [GARD:0010593] synonym: "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" EXACT [Orphanet:217371] -synonym: "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" EXACT CLINGEN_LABEL [] +synonym: "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" EXACT CLINGEN_LABEL [Orphanet:217371] synonym: "infantile liver failure caused by mutation in TRMU" EXACT [MONDO:design_pattern] synonym: "LFIT" EXACT ABBREVIATION [OMIM:613070] synonym: "liver failure, infantile, transient" EXACT [MONDO:Lexical, OMIM:613070] -synonym: "liver failure, transient infantile" EXACT [OMIM:613070, OMIM:genemap2] -synonym: "transient infantile liver failure" EXACT [GARD:0010593] +synonym: "liver failure, transient infantile" EXACT [] +synonym: "transient infantile liver failure" EXACT [DOID:0080778, GARD:0010593] synonym: "TRMU infantile liver failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080778 {source="MONDO:equivalentTo"} xref: GARD:10593 {source="MONDO:GARD"} @@ -299504,11 +299557,11 @@ def: "Any bronchiectasis in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:18056", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BESC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613071] +synonym: "BESC3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "bronchiectasis caused by mutation in SCNN1G" EXACT [MONDO:design_pattern] synonym: "bronchiectasis with or without elevated sweat chloride 3" EXACT [MONDO:Lexical, OMIM:613071] -synonym: "bronchiectasis with or without elevated sweat chloride type 3" EXACT [MONDORULE:1, OMIM:613071] -synonym: "cystic fibrosis-like syndrome" RELATED [OMIM:613071] +synonym: "bronchiectasis with or without elevated sweat chloride type 3" EXACT [MONDORULE:1] +synonym: "cystic fibrosis-like syndrome" RELATED [] synonym: "SCNN1G bronchiectasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080528 {source="MONDO:equivalentTo"} xref: GARD:18056 {source="MONDO:GARD"} @@ -299530,10 +299583,10 @@ def: "Any metaphyseal anadysplasia in which the cause of the disease is a mutati subset: gard_rare {source="GARD:15610", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MANDP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613073] +synonym: "MANDP2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "metaphyseal anadysplasia 2" EXACT [MONDO:Lexical, OMIM:613073] synonym: "metaphyseal anadysplasia caused by mutation in MMP9" EXACT [MONDO:design_pattern] -synonym: "metaphyseal anadysplasia type 2" EXACT [MONDORULE:1, OMIM:613073] +synonym: "metaphyseal anadysplasia type 2" EXACT [MONDORULE:1] synonym: "MMP9 metaphyseal anadysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15610 {source="MONDO:GARD"} xref: MEDGEN:414350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -299554,12 +299607,12 @@ def: "An autosomal dominant nonsyndromic deafness that is characterized postling subset: gard_rare {source="GARD:18132", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 50" NARROW [DOID:0110576] -synonym: "autosomal dominant nonsyndromic deafness 50" NARROW [OMIM:613074] -synonym: "autosomal dominant nonsyndromic deafness type 50" NARROW [DOID:0110576, MONDORULE:2] -synonym: "deafness, autosomal dominant 50" RELATED [MONDO:Lexical, OMIM:613074] -synonym: "deafness, autosomal dominant type 50" NARROW [MONDORULE:2, OMIM:613074] -synonym: "DFNA50" NARROW ABBREVIATION [DOID:0110576, MONDO:Lexical, OMIM:613074] +synonym: "autosomal dominant deafness 50" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 50" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 50" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 50" RELATED [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 50" NARROW [MONDORULE:2] +synonym: "DFNA50" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110576 {source="MONDO:equivalentTo"} xref: GARD:18132 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110576"} @@ -299584,12 +299637,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:217335"} subset: orphanet_rare {source="Orphanet:217335"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "macrocephaly, alopecia, cutis laxa, and scoliosis" RELATED [OMIM:613075] +synonym: "macrocephaly, alopecia, cutis laxa, and scoliosis" RELATED [] synonym: "macrocephaly-alopecia-cutis laxa-scoliosis syndrome" EXACT [Orphanet:217335] synonym: "MACS syndrome" EXACT [OMIM:613075, Orphanet:217335] synonym: "RIN2 deficiency" EXACT [Orphanet:217335] -synonym: "RIN2 syndrome" EXACT CLINGEN_LABEL [] -synonym: "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" RELATED [OMIM:613075] +synonym: "RIN2 syndrome" EXACT CLINGEN_LABEL [Orphanet:217335] +synonym: "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" RELATED [] synonym: "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome" EXACT [Orphanet:217335] xref: GARD:17120 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:217335/attributed", source="Orphanet:217335/ntbt", source="Orphanet:217335"} @@ -299613,12 +299666,12 @@ subset: orphanet_rare {source="Orphanet:330054"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome" EXACT [Orphanet:330054] -synonym: "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" EXACT CLINGEN_LABEL [] -synonym: "mitochondrial Complex deficiency, combined" RELATED [OMIM:613076] -synonym: "myopathy with cataract and combined respiratory chain deficiency" RELATED [OMIM:613076] +synonym: "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" EXACT CLINGEN_LABEL [Orphanet:330054] +synonym: "mitochondrial Complex deficiency, combined" RELATED [] +synonym: "myopathy with cataract and combined respiratory chain deficiency" RELATED [] synonym: "myopathy with cataract and combined respiratory-chain deficiency" RELATED [GARD:0010522] -synonym: "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" EXACT [OMIM:613076, OMIM:genemap2] -synonym: "myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" RELATED [OMIM:613076] +synonym: "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" EXACT [OMIM:613076] +synonym: "myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" RELATED [] xref: GARD:10522 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:330054", source="Orphanet:330054/attributed", source="Orphanet:330054/ntbt"} xref: MEDGEN:416525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -299640,11 +299693,11 @@ def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions subset: gard_rare {source="GARD:16501", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PEOA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613077] +synonym: "PEOA5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" EXACT [MONDO:Lexical, OMIM:613077] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5" EXACT [MONDORULE:1, OMIM:613077] -synonym: "progressive external ophthalmoplegia, autosomal dominant 5" RELATED [OMIM:613077] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5" EXACT [MONDORULE:1] +synonym: "progressive external ophthalmoplegia, autosomal dominant 5" RELATED [] synonym: "RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111518 {source="MONDO:equivalentTo"} xref: GARD:16501 {source="MONDO:GARD"} @@ -299671,12 +299724,12 @@ subset: orphanet_rare {source="Orphanet:240760"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "microcephaly and chromosomal instability without immunodeficiency" EXACT [Orphanet:240760] -synonym: "microcephaly and spontaneous chromosome instability without immunodeficiency" RELATED [OMIM:613078] -synonym: "NBs-like disorder" EXACT [OMIM:613078, Orphanet:240760] -synonym: "NBSLD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613078, Orphanet:240760] -synonym: "Nijmegen breakage syndrome-like disorder" EXACT [MONDO:Lexical, OMIM:613078] -synonym: "RAD50 deficiency" EXACT [Orphanet:240760] -synonym: "Rad50 deficiency" RELATED [OMIM:613078] +synonym: "microcephaly and spontaneous chromosome instability without immunodeficiency" RELATED [] +synonym: "NBs-like disorder" EXACT [icd11.foundation:1014526672, OMIM:613078, Orphanet:240760] +synonym: "NBSLD" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C153178, OMIM:613078, Orphanet:240760] +synonym: "Nijmegen breakage syndrome-like disorder" EXACT [icd11.foundation:1014526672, MONDO:Lexical, NCIT:C153178, OMIM:613078, Orphanet:240760] +synonym: "RAD50 deficiency" EXACT [NCIT:C153178, OMIM:613078, Orphanet:240760] +synonym: "Rad50 deficiency" RELATED [] xref: GARD:17184 {source="MONDO:GARD"} xref: icd11.foundation:1014526672 {source="MONDO:equivalentTo"} xref: MEDGEN:442700 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -299699,14 +299752,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22631", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 77" NARROW [DOID:0110525] -synonym: "autosomal recessive nonsyndromic deafness 77" NARROW [OMIM:613079] +synonym: "autosomal recessive deafness 77" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 77" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 77" NARROW [DOID:0110525, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 77" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 77" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 77" NARROW [MONDO:Lexical, OMIM:613079, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 77" NARROW [MONDORULE:2, OMIM:613079] -synonym: "DFNB77" NARROW ABBREVIATION [DOID:0110525, MONDO:Lexical, OMIM:613079] +synonym: "deafness, autosomal recessive 77" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 77" NARROW [MONDORULE:2] +synonym: "DFNB77" NARROW ABBREVIATION [MONDO:Lexical] synonym: "LOXHD1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110525 {source="MONDO:equivalentTo"} xref: GARD:22631 {source="MONDO:GARD"} @@ -299728,15 +299781,15 @@ name: 46,XY sex reversal 5 subset: gard_rare {source="GARD:15611", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "46,XY gonadal dysgenesis, complete, Cbx2-related" RELATED [OMIM:613080] -synonym: "46,XY SEX reversal 5" RELATED [OMIM:613080] -synonym: "46,XY sex reversal 5" EXACT [MONDO:Lexical, OMIM:613080] -synonym: "46,XY Sex reversal type 5" EXACT [MONDORULE:1, OMIM:613080] -synonym: "46,XY Sex reversal, Cbx2-related" RELATED [OMIM:613080] -synonym: "46XY sex reversal 5" EXACT [OMIM:613080, OMIM:genemap2] -synonym: "disorder of Sex development, 46,XY, Cbx2-related" RELATED [OMIM:613080] -synonym: "Sex reversal, XY, Cbx2-related" RELATED [OMIM:613080] -synonym: "SRXY5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613080] +synonym: "46,XY gonadal dysgenesis, complete, Cbx2-related" RELATED [] +synonym: "46,XY SEX reversal 5" RELATED [] +synonym: "46,XY sex reversal 5" EXACT [DOID:0111776, MONDO:Lexical, OMIM:613080] +synonym: "46,XY Sex reversal type 5" EXACT [MONDORULE:1] +synonym: "46,XY Sex reversal, Cbx2-related" RELATED [] +synonym: "46XY sex reversal 5" EXACT [] +synonym: "disorder of Sex development, 46,XY, Cbx2-related" RELATED [] +synonym: "Sex reversal, XY, Cbx2-related" RELATED [] +synonym: "SRXY5" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111776 {source="MONDO:equivalentTo"} xref: GARD:15611 {source="MONDO:GARD"} xref: MEDGEN:414349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -299770,8 +299823,8 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18226", source="MONDO:GARD"} subset: rare synonym: "glaucoma 3, primary congenital, D" EXACT [MONDO:Lexical, OMIM:613086] -synonym: "glaucoma 3, primary congenital, type D" EXACT [MONDORULE:1, OMIM:613086] -synonym: "GLC3D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613086] +synonym: "glaucoma 3, primary congenital, type D" EXACT [MONDORULE:1] +synonym: "GLC3D" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18226 {source="MONDO:GARD"} xref: MEDGEN:416524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567765 {source="MONDO:equivalentTo"} @@ -299794,9 +299847,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ASD6" EXACT ABBREVIATION [DOID:0110111, MONDO:Lexical, OMIM:613087] synonym: "atrial heart septal defect caused by mutation in TLL1" EXACT [MONDO:design_pattern] -synonym: "atrial heart septal defect type 6" EXACT [DOID:0110111, MONDORULE:1] +synonym: "atrial heart septal defect type 6" EXACT [MONDORULE:1] synonym: "atrial septal defect 6" EXACT [DOID:0110111, MONDO:Lexical, OMIM:613087] -synonym: "atrial septal defect type 6" EXACT [MONDORULE:1, OMIM:613087] +synonym: "atrial septal defect type 6" EXACT [MONDORULE:1] synonym: "TLL1 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110111 {source="MONDO:equivalentTo"} xref: ICD10CM:Q21.1 {source="DOID:0110111"} @@ -299815,8 +299868,8 @@ id: MONDO:0013124 name: pelvic organ prolapse, susceptibility to, 2 subset: predisposition synonym: "pelvic organ prolapse, susceptibility to, 2" EXACT [OMIM:613088] -synonym: "pelvic organ prolapse, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613088] -synonym: "Pvop2" RELATED [OMIM:613088] +synonym: "pelvic organ prolapse, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "Pvop2" RELATED [] xref: MEDGEN:416523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613088 {source="MONDO:equivalentTo"} xref: UMLS:C2751314 {source="MEDGEN:416523", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -299837,10 +299890,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:168984"} subset: orphanet_rare {source="Orphanet:168984"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" RELATED [OMIM:613089] -synonym: "Clapo" RELATED [OMIM:613089] -synonym: "CLAPO syndrome, somatic" EXACT [OMIM:613089, OMIM:genemap2] -synonym: "Lopez-Gutierrez syndrome" RELATED [OMIM:613089] +synonym: "capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" RELATED [] +synonym: "Clapo" RELATED [] +synonym: "CLAPO syndrome, somatic" EXACT [] +synonym: "Lopez-Gutierrez syndrome" RELATED [] xref: GARD:17044 {source="MONDO:GARD"} xref: ICD10CM:Q87.3 {source="Orphanet:168984/attributed", source="Orphanet:168984/ntbt", source="Orphanet:168984"} xref: icd11.foundation:415642712 {source="MONDO:equivalentTo"} @@ -299871,29 +299924,29 @@ subset: ordo_malformation_syndrome {source="Orphanet:93270", source="Orphanet:93 subset: orphanet_rare {source="Orphanet:93270", source="Orphanet:93271"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "asphyxiating thoracic dystrophy 3" EXACT CLINGEN_LABEL [OMIM:613091] -synonym: "asphyxiating thoracic dystrophy type 3" EXACT [DOID:0110087, MONDORULE:1] +synonym: "asphyxiating thoracic dystrophy 3" EXACT CLINGEN_LABEL [DOID:0110087, OMIM:613091] +synonym: "asphyxiating thoracic dystrophy type 3" EXACT [MONDORULE:1] synonym: "ATD3" EXACT ABBREVIATION [DOID:0110087] -synonym: "polydactyly with neonatal chondrodystrophy type 1" EXACT [GARD:0004834, OMIM:613091] -synonym: "polydactyly with neonatal chondrodystrophy type III" EXACT [DOID:0110087, GARD:0004835] +synonym: "polydactyly with neonatal chondrodystrophy type 1" EXACT [GARD:0004834] +synonym: "polydactyly with neonatal chondrodystrophy type III" EXACT [GARD:0004835] synonym: "polydactyly with neonatal chondrodystrophy, type 3" EXACT [OMIM:613091] synonym: "polydactyly with neonatal chondrodystrophy, type I" EXACT [DOID:0110087] synonym: "Saldino-Noonan syndrome" EXACT [DOID:0110087, OMIM:613091] synonym: "short rib polydactyly syndrome Verma Naumoff type" EXACT [GARD:0004835, MONDO:0019664] synonym: "short rib-polydactyly syndrome Saldino-Noonan type" EXACT [GARD:0004834, MONDO:0019663] -synonym: "short rib-polydactyly syndrome type 1" EXACT [DOID:0110087, OMIM:613091, Orphanet:93270] -synonym: "short rib-polydactyly syndrome type 3" EXACT [GARD:0004835, OMIM:613091, Orphanet:93271] +synonym: "short rib-polydactyly syndrome type 1" EXACT [Orphanet:93270] +synonym: "short rib-polydactyly syndrome type 3" EXACT [GARD:0004835, Orphanet:93271] synonym: "short rib-polydactyly syndrome type III" EXACT [GARD:0004835] synonym: "short rib-polydactyly syndrome, type 2B" EXACT [OMIM:613091] synonym: "short rib-polydactyly syndrome, type IIB" EXACT [DOID:0110087] -synonym: "short-rib thoracic dysplasia 3 with or without polydactyly" EXACT [DOID:0110087, MONDO:Lexical, OMIM:613091] +synonym: "short-rib thoracic dysplasia 3 with or without polydactyly" EXACT [DOID:0110087, MONDO:Lexical, NCIT:C163755, OMIM:613091] synonym: "SRPS type 1" EXACT [GARD:0004834] synonym: "SRPS type 3" EXACT [GARD:0004835] synonym: "SRPS1" EXACT ABBREVIATION [DOID:0110087] synonym: "SRPS2B" EXACT ABBREVIATION [DOID:0110087] synonym: "SRPS3" EXACT ABBREVIATION [DOID:0110087] -synonym: "SRTD3" EXACT ABBREVIATION [DOID:0110087, MONDO:Lexical, OMIM:613091] -synonym: "type I short rib polydactyly syndrome" EXACT [DOID:0050549] +synonym: "SRTD3" EXACT ABBREVIATION [DOID:0110087, MONDO:Lexical, NCIT:C163755, OMIM:613091] +synonym: "type I short rib polydactyly syndrome" EXACT [] synonym: "Verma-Naumoff syndrome" EXACT [DOID:0110087, GARD:0004835, OMIM:613091] xref: DOID:0050549 {source="MONDO:equivalentObsolete"} xref: DOID:0110087 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -299928,21 +299981,21 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:217330"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADTKD-REN" EXACT [Orphanet:217330] +synonym: "ADTKD-REN" EXACT ABBREVIATION [Orphanet:217330] synonym: "autosomal dominant tubulointerstitial kidney disease due to mutations in REN" EXACT [PMID:25738250] -synonym: "early-onset hyperuricemia, Anemia, and progressive kidney failure" RELATED [OMIM:613092] +synonym: "early-onset hyperuricemia, Anemia, and progressive kidney failure" RELATED [] synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in REN" EXACT [MONDO:design_pattern] synonym: "familial juvenile hyperuricemic nephropathy type 2" EXACT [Orphanet:217330] synonym: "FJHN type 2" EXACT [Orphanet:217330] -synonym: "HNFJ2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613092] -synonym: "hyperuricemic nephropathy, familial juvenile, 2" RELATED [MONDO:Lexical, OMIM:613092] -synonym: "hyperuricemic nephropathy, familial juvenile, type 2" EXACT [MONDORULE:1, OMIM:613092] +synonym: "HNFJ2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperuricemic nephropathy, familial juvenile, 2" RELATED [MONDO:Lexical] +synonym: "hyperuricemic nephropathy, familial juvenile, type 2" EXACT [MONDORULE:1] synonym: "REN familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "REN-associated familial juvenile hyperuricemic nephropathy" EXACT [Orphanet:217330] synonym: "REN-associated FJHN" EXACT [Orphanet:217330] synonym: "REN-associated kidney disease" EXACT [Orphanet:217330] -synonym: "REN-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:217330] -synonym: "tubulointerstitial kidney disease, autosomal dominant, 4" EXACT [OMIM:613092, OMIM:genemap2] +synonym: "REN-related autosomal dominant tubulointerstitial kidney disease" RELATED [] +synonym: "tubulointerstitial kidney disease, autosomal dominant, 4" EXACT [OMIM:613092] xref: GARD:13461 {source="MONDO:GARD"} xref: MEDGEN:414347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567760 {source="MONDO:equivalentTo"} @@ -299966,11 +300019,11 @@ def: "Any cone dystrophy in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:16449", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "achromatopsia 5" RELATED [OMIM:613093] -synonym: "COD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613093] +synonym: "achromatopsia 5" RELATED [] +synonym: "COD4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "cone dystrophy 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613093] synonym: "cone dystrophy caused by mutation in PDE6C" EXACT [MONDO:design_pattern] -synonym: "cone dystrophy type 4" EXACT [MONDORULE:1, OMIM:613093] +synonym: "cone dystrophy type 4" EXACT [MONDORULE:1] synonym: "PDE6C cone dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16449 {source="MONDO:GARD"} xref: MEDGEN:416518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -299995,10 +300048,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GDF6 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated microphthalmia caused by mutation in GDF6" EXACT [MONDO:design_pattern] -synonym: "isolated microphthalmia type 4" EXACT [DOID:0060836, MONDORULE:1] +synonym: "isolated microphthalmia type 4" EXACT [MONDORULE:1] synonym: "MCOP4" EXACT ABBREVIATION [DOID:0060836, MONDO:Lexical, OMIM:613094] -synonym: "microphthalmia, isolated 4" RELATED [MONDO:Lexical, OMIM:613094] -synonym: "microphthalmia, isolated type 4" EXACT [MONDORULE:1, OMIM:613094] +synonym: "microphthalmia, isolated 4" RELATED [MONDO:Lexical] +synonym: "microphthalmia, isolated type 4" EXACT [MONDORULE:1] xref: DOID:0060836 {source="MONDO:equivalentTo"} xref: ICD10CM:Q11.0 {source="DOID:0060836"} xref: MEDGEN:414346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -300025,10 +300078,10 @@ synonym: "autosomal dominant polycystic kidney disease caused by mutation in PKD synonym: "Autosomal dominant polycystic kidney disease type 2" EXACT [NCIT:C123166] synonym: "PKD2" EXACT ABBREVIATION [DOID:0110859, MONDO:Lexical, OMIM:613095] synonym: "PKD2 autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "polycystic kidney disease 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613095] -synonym: "polycystic kidney disease 2 with or without polycystic liver disease" RELATED [OMIM:613095] -synonym: "polycystic kidney disease type 2" EXACT [DOID:0110859, MONDORULE:1, OMIM:613095] -synonym: "polycystic kidney disease, adult, type 2" RELATED [OMIM:613095] +synonym: "polycystic kidney disease 2" EXACT CLINGEN_LABEL [DOID:0110859, MONDO:Lexical] +synonym: "polycystic kidney disease 2 with or without polycystic liver disease" RELATED [] +synonym: "polycystic kidney disease type 2" EXACT [MONDORULE:1] +synonym: "polycystic kidney disease, adult, type 2" RELATED [] synonym: "polycystic kidney disease, adult, type II" EXACT [DOID:0110859] xref: DOID:0110859 {source="MONDO:equivalentTo"} xref: GARD:18599 {source="MONDO:GARD"} @@ -300054,9 +300107,9 @@ subset: orphanet_rare {source="Orphanet:320365"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 36" EXACT [DOID:0110787] -synonym: "autosomal dominant spastic paraplegia type 36" EXACT [DOID:0110787] -synonym: "hereditary spastic paraplegia type 36" EXACT [DOID:0110787, MONDORULE:2] -synonym: "spastic paraplegia 36, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613096] +synonym: "autosomal dominant spastic paraplegia type 36" EXACT [DOID:0110787, Orphanet:320365] +synonym: "hereditary spastic paraplegia type 36" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 36, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG36" EXACT ABBREVIATION [DOID:0110787, MONDO:Lexical, OMIM:613096, Orphanet:320365] xref: DOID:0110787 {source="MONDO:equivalentTo"} xref: GARD:17472 {source="MONDO:GARD"} @@ -300076,11 +300129,11 @@ name: melanoma, cutaneous malignant, susceptibility to, 5 subset: inferred_rare subset: predisposition subset: rare -synonym: "CMM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613099] -synonym: "melanoma, cutaneous malignant, 5" EXACT [OMIM:613099, OMIM:genemap2] +synonym: "CMM5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "melanoma, cutaneous malignant, 5" EXACT [] synonym: "melanoma, cutaneous malignant, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:613099] -synonym: "melanoma, cutaneous malignant, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:613099] -synonym: "susceptibility to cutaneous malignant melanoma 5" RELATED [OMIM:613099] +synonym: "melanoma, cutaneous malignant, susceptibility to, type 5" EXACT [MONDORULE:1] +synonym: "susceptibility to cutaneous malignant melanoma 5" RELATED [] xref: MEDGEN:416516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613099 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:613099"} @@ -300103,10 +300156,10 @@ def: "Any open-angle glaucoma in which the cause of the disease is a mutation in subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glaucoma 1, open angle, 1O" EXACT [OMIM:613100, OMIM:genemap2] +synonym: "glaucoma 1, open angle, 1O" EXACT [] synonym: "glaucoma 1, open angle, O" EXACT [MONDO:Lexical, OMIM:613100] -synonym: "glaucoma 1, open angle, type O" EXACT [MONDORULE:1, OMIM:613100] -synonym: "GLC1O" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613100] +synonym: "glaucoma 1, open angle, type O" EXACT [MONDORULE:1] +synonym: "GLC1O" RELATED ABBREVIATION [MONDO:Lexical] synonym: "NTF4 open-angle glaucoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "open-angle glaucoma caused by mutation in NTF4" EXACT [MONDO:design_pattern] xref: MEDGEN:416515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -300129,12 +300182,12 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15614", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "familial hemophagocytic lymphohistiocytosis type 5" EXACT [DOID:0110925, MONDORULE:1] +synonym: "familial hemophagocytic lymphohistiocytosis type 5" EXACT [MONDORULE:1] synonym: "FHL5" EXACT ABBREVIATION [DOID:0110925, MONDO:Lexical, OMIM:613101] synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2" EXACT [MONDO:design_pattern] -synonym: "hemophagocytic lymphohistiocytosis, familial, 5" RELATED [MONDO:Lexical, OMIM:613101] -synonym: "hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease" EXACT [OMIM:613101, OMIM:genemap2] -synonym: "hemophagocytic lymphohistiocytosis, familial, type 5" EXACT [MONDORULE:1, OMIM:613101] +synonym: "hemophagocytic lymphohistiocytosis, familial, 5" RELATED [MONDO:Lexical] +synonym: "hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease" EXACT [OMIM:613101] +synonym: "hemophagocytic lymphohistiocytosis, familial, type 5" EXACT [MONDORULE:1] synonym: "HLH5" EXACT ABBREVIATION [DOID:0110925] synonym: "HPLH5" EXACT ABBREVIATION [DOID:0110925] synonym: "STXBP2 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -300163,8 +300216,8 @@ subset: ordo_disorder {source="Orphanet:217407"} subset: orphanet_rare {source="Orphanet:217407"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary hypotrichosis with recurrent skin vesicles" EXACT CLINGEN_LABEL [] -synonym: "hypotrichosis and recurrent skin vesicles" RELATED [OMIM:613102] +synonym: "hereditary hypotrichosis with recurrent skin vesicles" EXACT CLINGEN_LABEL [Orphanet:217407] +synonym: "hypotrichosis and recurrent skin vesicles" RELATED [] xref: GARD:17124 {source="MONDO:GARD"} xref: MEDGEN:442697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567751 {source="MONDO:equivalentTo"} @@ -300181,11 +300234,11 @@ name: choroidal dystrophy, central areolar 2 def: "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15615", source="MONDO:GARD"} subset: rare -synonym: "CACD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613105] +synonym: "CACD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "central areolar choroidal dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern] synonym: "choroidal dystrophy, central areolar 2" EXACT [MONDO:Lexical, OMIM:613105] -synonym: "choroidal dystrophy, central areolar type 2" EXACT [MONDORULE:1, OMIM:613105] -synonym: "macular dystrophy, progressive" RELATED [OMIM:613105] +synonym: "choroidal dystrophy, central areolar type 2" EXACT [MONDORULE:1] +synonym: "macular dystrophy, progressive" RELATED [] synonym: "PRPH2 central areolar choroidal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15615 {source="MONDO:GARD"} xref: MEDGEN:442696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -300222,9 +300275,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant severe congenital neutropenia caused by mutation in GFI1" EXACT [MONDO:design_pattern] synonym: "GFI1 autosomal dominant severe congenital neutropenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "neutropenia, severe congenital 2, autosomal dominant" EXACT [OMIM:613107, OMIM:genemap2] +synonym: "neutropenia, severe congenital 2, autosomal dominant" EXACT [] synonym: "neutropenia, severe congenital, 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613107] -synonym: "SCN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613107] +synonym: "SCN2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0112131 {source="MONDO:equivalentTo"} xref: GARD:15616 {source="MONDO:GARD"} xref: MEDGEN:413975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -300246,11 +300299,11 @@ def: "Any familial chronic mucocutaneous candidiasis in which the cause of the d subset: gard_rare {source="GARD:15617", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CANDF4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613108] -synonym: "candidiasis, familial chronic mucocutaneous" RELATED [OMIM:613108] +synonym: "CANDF4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "candidiasis, familial chronic mucocutaneous" RELATED [] synonym: "candidiasis, familial, 4" EXACT [MONDO:Lexical, OMIM:613108] -synonym: "candidiasis, familial, 4, autosomal recessive" EXACT [OMIM:613108, OMIM:genemap2] -synonym: "candidiasis, familial, type 4" EXACT [MONDORULE:1, OMIM:613108] +synonym: "candidiasis, familial, 4, autosomal recessive" EXACT [] +synonym: "candidiasis, familial, type 4" EXACT [MONDORULE:1] synonym: "CLEC7A familial chronic mucocutaneous candidiasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A" EXACT [MONDO:design_pattern] xref: GARD:15617 {source="MONDO:GARD"} @@ -300282,11 +300335,11 @@ subset: gard_rare {source="GARD:15618", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1" EXACT [MONDO:design_pattern] -synonym: "hereditary sensory and autonomic neuropathy type 2B" RELATED [DOID:0070150] +synonym: "hereditary sensory and autonomic neuropathy type 2B" RELATED [] synonym: "hereditary sensory and autonomic neuropathy type IIB" EXACT [DOID:0070150] synonym: "HSAN2B" EXACT ABBREVIATION [DOID:0070150, MONDO:Lexical, OMIM:613115] -synonym: "neuropathy, hereditary sensory and autonomic, type 2B" EXACT CLINGEN_LABEL [] -synonym: "neuropathy, hereditary sensory and autonomic, type IIB" RELATED [MONDO:Lexical, OMIM:613115] +synonym: "neuropathy, hereditary sensory and autonomic, type 2B" EXACT CLINGEN_LABEL [OMIM:613115] +synonym: "neuropathy, hereditary sensory and autonomic, type IIB" RELATED [MONDO:Lexical] synonym: "RETREG1 hereditary sensory and autonomic neuropathy type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070150 {source="MONDO:equivalentTo"} xref: GARD:15618 {source="MONDO:GARD"} @@ -300309,11 +300362,11 @@ subset: ordo_disorder {source="Orphanet:217467"} subset: orphanet_rare {source="Orphanet:217467"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary thrombophilia due to congenital HRG deficiency" EXACT [Orphanet:217467] -synonym: "THPH11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613116] -synonym: "thrombophilia 11 due to HRG deficiency" EXACT [OMIM:613116, OMIM:genemap2] -synonym: "thrombophilia due to elevated histidine-rich glycoprotein" RELATED [OMIM:613116] -synonym: "thrombophilia due to histidine-rich glycoprotein deficiency" RELATED [MONDO:Lexical, OMIM:613116] +synonym: "hereditary thrombophilia due to congenital HRG deficiency" EXACT [DOID:0111903, Orphanet:217467] +synonym: "THPH11" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thrombophilia 11 due to HRG deficiency" EXACT [] +synonym: "thrombophilia due to elevated histidine-rich glycoprotein" RELATED [] +synonym: "thrombophilia due to histidine-rich glycoprotein deficiency" RELATED [MONDO:Lexical] xref: DOID:0111903 {source="MONDO:equivalentTo"} xref: GARD:17125 {source="MONDO:GARD"} xref: ICD10CM:D68.5 {source="Orphanet:217467/attributed", source="Orphanet:217467/ntbt", source="Orphanet:217467"} @@ -300343,16 +300396,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "antithrombin 3 deficiency" EXACT [OMIM:613118] synonym: "Antithrombin Deficiency" EXACT [NORD:791] -synonym: "antithrombin III deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613118] +synonym: "antithrombin III deficiency" EXACT CLINGEN_LABEL [DOID:3755, MONDO:Lexical] synonym: "AT III deficiency" EXACT [DOID:3755] synonym: "AT3D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613118] synonym: "congenital antithrombin III deficiency" EXACT [GARD:0006148] synonym: "congenital AT-III deficiency" EXACT [GARD:0006148] synonym: "hereditary antithrombin deficiency" EXACT [GARD:0006148] synonym: "hereditary thrombophilia due to congenital antithrombin 3 deficiency" EXACT [Orphanet:82] -synonym: "hereditary thrombophilia due to congenital antithrombin deficiency" EXACT [DOID:3755] +synonym: "hereditary thrombophilia due to congenital antithrombin deficiency" EXACT [DOID:3755, Orphanet:82] synonym: "inherited antithrombin deficiency" EXACT [GARD:0006148] -synonym: "thrombophilia 7 due to antithrombin III deficiency" EXACT [OMIM:613118, OMIM:genemap2] +synonym: "thrombophilia 7 due to antithrombin III deficiency" EXACT [] synonym: "thrombophilia due to antithrombin 3 deficiency" EXACT [OMIM:613118] synonym: "thrombophilia due to antithrombin III deficiency" EXACT [GARD:0006148] xref: DOID:3755 {source="MONDO:equivalentTo"} @@ -300384,9 +300437,9 @@ subset: gard_rare {source="GARD:15619", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BRGDA6" EXACT ABBREVIATION [DOID:0110223, MONDO:Lexical, OMIM:613119] -synonym: "Brugada syndrome 6" EXACT [MONDO:Lexical, OMIM:613119] +synonym: "Brugada syndrome 6" EXACT [DOID:0110223, MONDO:Lexical, OMIM:613119] synonym: "Brugada syndrome caused by mutation in KCNE3" EXACT [MONDO:design_pattern] -synonym: "Brugada syndrome type 6" EXACT [DOID:0110223, MONDORULE:1, OMIM:613119] +synonym: "Brugada syndrome type 6" EXACT [MONDORULE:1] synonym: "KCNE3 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110223 {source="MONDO:equivalentTo"} xref: GARD:15619 {source="MONDO:GARD"} @@ -300407,11 +300460,11 @@ name: Brugada syndrome 7 def: "Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15620", source="MONDO:GARD"} subset: rare -synonym: "atrial fibrillation, familial, 16" RELATED [OMIM:613120] +synonym: "atrial fibrillation, familial, 16" RELATED [] synonym: "BRGDA7" EXACT ABBREVIATION [DOID:0110224, MONDO:Lexical, OMIM:613120] -synonym: "Brugada syndrome 7" EXACT [MONDO:Lexical, OMIM:613120] +synonym: "Brugada syndrome 7" EXACT [DOID:0110224, MONDO:Lexical, OMIM:613120] synonym: "Brugada syndrome caused by mutation in SCN3B" EXACT [MONDO:design_pattern] -synonym: "Brugada syndrome type 7" EXACT [DOID:0110224, MONDORULE:1, OMIM:613120] +synonym: "Brugada syndrome type 7" EXACT [MONDORULE:1] synonym: "SCN3B Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110224 {source="MONDO:equivalentTo"} xref: GARD:15620 {source="MONDO:GARD"} @@ -300434,10 +300487,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15621", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1CC" RELATED [MONDO:Lexical, OMIM:613122] -synonym: "cardiomyopathy, dilated, type 1Cc" EXACT [MONDORULE:9, OMIM:613122] +synonym: "cardiomyopathy, dilated, 1CC" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Cc" EXACT [MONDORULE:9] synonym: "CMD1CC" EXACT ABBREVIATION [DOID:0110424, MONDO:Lexical, OMIM:613122] -synonym: "dilated cardiomyopathy type 1CC" EXACT [DOID:0110424, MONDORULE:9] +synonym: "dilated cardiomyopathy type 1CC" EXACT [MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in NEXN" EXACT [MONDO:design_pattern] synonym: "NEXN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110424 {source="MONDO:equivalentTo"} @@ -300458,9 +300511,9 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:15622", source="MONDO:GARD"} subset: rare synonym: "BRGDA8" EXACT ABBREVIATION [DOID:0110225, MONDO:Lexical, OMIM:613123] -synonym: "Brugada syndrome 8" EXACT [MONDO:Lexical, OMIM:613123] +synonym: "Brugada syndrome 8" EXACT [DOID:0110225, MONDO:Lexical, OMIM:613123] synonym: "Brugada syndrome caused by mutation in HCN4" EXACT [MONDO:design_pattern] -synonym: "Brugada syndrome type 8" EXACT [DOID:0110225, MONDORULE:1, OMIM:613123] +synonym: "Brugada syndrome type 8" EXACT [MONDORULE:1] synonym: "HCN4 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110225 {source="MONDO:equivalentTo"} xref: GARD:15622 {source="MONDO:GARD"} @@ -300478,7 +300531,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013149 name: hydrops fetalis, nonimmune, with gracile bones and dysmorphic features -synonym: "hydrops fetalis, nonimmune, with gracile bones and dysmorphic features" EXACT [OMIM:613124] +synonym: "hydrops fetalis, nonimmune, with gracile bones and dysmorphic features" EXACT [] xref: MEDGEN:1677588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567731 {source="MONDO:equivalentTo"} xref: OMIM:613124 {source="MONDO:equivalentTo"} @@ -300495,13 +300548,13 @@ subset: ordo_disorder {source="Orphanet:238455"} subset: orphanet_rare {source="Orphanet:238455"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dopamine transporter deficiency syndrome" EXACT [OMIM:613135] -synonym: "infantile Parkinsonism-dystonia" EXACT [OMIMPS:613135] +synonym: "dopamine transporter deficiency syndrome" EXACT [Orphanet:238455] +synonym: "infantile Parkinsonism-dystonia" EXACT [] synonym: "IPD" EXACT ABBREVIATION [Orphanet:238455] -synonym: "Parkinsonism-dystonia infantile" EXACT [OMIMPS:613135] +synonym: "Parkinsonism-dystonia infantile" EXACT [] synonym: "PARKINSONISM-dystonia, infantile" EXACT [MONDO:Lexical, OMIMPS:613135] -synonym: "parkinsonism-dystonia, infantile" EXACT CLINGEN_LABEL [] -synonym: "PKDYS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613135, Orphanet:238455] +synonym: "parkinsonism-dystonia, infantile" EXACT CLINGEN_LABEL [OMIMPS:613135] +synonym: "PKDYS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:238455] xref: GARD:10484 {source="MONDO:GARD"} xref: MEDGEN:413468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567730 {source="MONDO:equivalentTo"} @@ -300523,7 +300576,7 @@ subset: gard_rare {source="GARD:15623", source="MONDO:GARD"} subset: rare synonym: "CACD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613144] synonym: "choroidal dystrophy, central areolar, 3" EXACT [MONDO:Lexical, OMIM:613144] -synonym: "choroidal dystrophy, central areolar, with or without drusen" RELATED [OMIM:613144] +synonym: "choroidal dystrophy, central areolar, with or without drusen" RELATED [] xref: GARD:15623 {source="MONDO:GARD"} xref: MEDGEN:442631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567729 {source="MONDO:equivalentTo"} @@ -300553,13 +300606,13 @@ subset: gard_rare {source="GARD:18343", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "early onset autosomal recessive inflammatory bowel disease 28" EXACT [DOID:0110899] -synonym: "IBD28" EXACT ABBREVIATION [DOID:0110899, MONDO:Lexical, OMIM:613148] +synonym: "IBD28" EXACT ABBREVIATION [DOID:0110899, MONDO:Lexical, NCIT:C164676, OMIM:613148] synonym: "IL10RA inflammatory bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "inflammatory bowel disease 28" EXACT CLINGEN_LABEL [] +synonym: "inflammatory bowel disease 28" EXACT CLINGEN_LABEL [DOID:0110899, NCIT:C164676] synonym: "inflammatory bowel disease 28, autosomal recessive" EXACT [MONDO:Lexical, OMIM:613148] -synonym: "inflammatory bowel disease 28, early onset, autosomal recessive" EXACT [OMIM:613148, OMIM:genemap2] +synonym: "inflammatory bowel disease 28, early onset, autosomal recessive" EXACT [] synonym: "inflammatory bowel disease caused by mutation in IL10RA" EXACT [MONDO:design_pattern] -synonym: "inflammatory bowel disease type 28" EXACT [DOID:0110899, MONDORULE:2] +synonym: "inflammatory bowel disease type 28" EXACT [MONDORULE:2] synonym: "inflammatory bowel disease, early-onset, autosomal recessive" EXACT [OMIM:613148] xref: DOID:0110899 {source="MONDO:equivalentTo"} xref: GARD:18343 {source="MONDO:GARD"} @@ -300585,11 +300638,11 @@ subset: gard_rare {source="GARD:15624", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDDGA2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613150] +synonym: "MDDGA2" EXACT ABBREVIATION [DOID:0111240, MONDO:Lexical, NCIT:C126742, OMIM:613150] synonym: "muscle-eye-brain-POMT2 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2" EXACT [NCIT:C126742] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2" EXACT [MONDO:Lexical, OMIM:613150] -synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related" EXACT [OMIM:613150] +synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related" EXACT [DOID:0111240, OMIM:613150] xref: DOID:0111240 {source="MONDO:equivalentTo"} xref: GARD:15624 {source="MONDO:GARD"} xref: MEDGEN:461761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -300613,10 +300666,10 @@ subset: gard_rare {source="GARD:18455", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital muscular dystrophy-POMGNT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] -synonym: "MDDGB3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613151] -synonym: "muscular dystrophy, congenital, POMGNT1-related" RELATED [OMIM:613151] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3" RELATED [MONDO:Lexical, OMIM:613151] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613151] +synonym: "MDDGB3" RELATED DEPRECATED [MONDO:Lexical] +synonym: "muscular dystrophy, congenital, POMGNT1-related" RELATED [] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0112378 {source="MONDO:equivalentTo"} xref: GARD:18455 {source="MONDO:GARD"} xref: MEDGEN:461762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -300636,10 +300689,10 @@ subset: gard_rare {source="GARD:18456", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital muscular dystrophy-FKTN related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] -synonym: "MDDGB4" RELATED DEPRECATED [MONDO:Lexical, OMIM:613152] -synonym: "muscular dystrophy, congenital, Fktn-related" RELATED [OMIM:613152] -synonym: "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4" RELATED [MONDO:Lexical, OMIM:613152] -synonym: "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4" RELATED DEPRECATED [MONDO:Lexical, OMIM:613152] +synonym: "MDDGB4" RELATED DEPRECATED [MONDO:Lexical] +synonym: "muscular dystrophy, congenital, Fktn-related" RELATED [] +synonym: "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0112379 {source="MONDO:equivalentTo"} xref: GARD:18456 {source="MONDO:GARD"} xref: MEDGEN:413465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -300659,10 +300712,10 @@ subset: gard_rare {source="GARD:15625", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDDGA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613153] +synonym: "MDDGA5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "muscle-eye-brain-FKRP related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" RELATED [MONDO:Lexical, OMIM:613153] -synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related" RELATED [OMIM:613153] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" RELATED [MONDO:Lexical] +synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related" RELATED [] xref: DOID:0111241 {source="MONDO:equivalentTo"} xref: GARD:15625 {source="MONDO:GARD"} xref: MEDGEN:461763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -300685,10 +300738,10 @@ subset: gard_rare {source="GARD:15626", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDDGA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613154] +synonym: "MDDGA6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6" EXACT [NCIT:C126743] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" RELATED [MONDO:Lexical, OMIM:613154] -synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, large-related" RELATED [OMIM:613154] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" RELATED [MONDO:Lexical] +synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, large-related" RELATED [] xref: DOID:0111242 {source="MONDO:equivalentTo"} xref: GARD:15626 {source="MONDO:GARD"} xref: MEDGEN:461764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -300711,10 +300764,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital muscular dystrophy-POMT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] -synonym: "MDDGB1" RELATED DEPRECATED [MONDO:Lexical, OMIM:613155] -synonym: "muscular dystrophy, congenital, Pomt1-related" RELATED [OMIM:613155] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1" RELATED [MONDO:Lexical, OMIM:613155] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1" RELATED DEPRECATED [MONDO:Lexical, OMIM:613155] +synonym: "MDDGB1" RELATED DEPRECATED [MONDO:Lexical] +synonym: "muscular dystrophy, congenital, Pomt1-related" RELATED [] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0050588 {source="MONDO:equivalentTo"} xref: MEDGEN:1774807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613155 {source="MONDO:equivalentTo"} @@ -300734,13 +300787,13 @@ def: "An autosomal recessive inherited congenital muscular dystrophy caused by m subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2" EXACT [NCIT:C126690] +synonym: "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2" EXACT DEPRECATED [NCIT:C126690] synonym: "congenital muscular dystrophy-POMT2 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] -synonym: "MDDGB2" RELATED DEPRECATED [MONDO:Lexical, OMIM:613156] -synonym: "muscular dystrophy, congenital, Pomt2-related" RELATED [OMIM:613156] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2" RELATED [MONDO:Lexical, OMIM:613156] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:613156] +synonym: "MDDGB2" RELATED DEPRECATED [MONDO:Lexical] +synonym: "muscular dystrophy, congenital, Pomt2-related" RELATED [] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0112380 {source="MONDO:equivalentTo"} xref: MEDGEN:461766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C126690 {source="MONDO:equivalentTo"} @@ -300768,11 +300821,11 @@ synonym: "LGMD-POMGNT1 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/ synonym: "LGMD2O" EXACT ABBREVIATION [DOID:0110292, Orphanet:206564] synonym: "limb-girdle muscular dystrophy type 2O" RELATED [GARD:0012540] synonym: "MDDGC3" EXACT ABBREVIATION [DOID:0110292, MONDO:Lexical, OMIM:613157] -synonym: "muscular dystrophy, limb-girdle, type 2O" RELATED [OMIM:613157] +synonym: "muscular dystrophy, limb-girdle, type 2O" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3" EXACT [DOID:0110292] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3" RELATED [MONDO:Lexical, OMIM:613157] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3" RELATED [MONDO:Lexical] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related" EXACT [DOID:0110292] -synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related" RELATED [OMIM:613157] +synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related" RELATED [] synonym: "POMGNT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110292 {source="MONDO:equivalentTo"} xref: GARD:12540 {source="MONDO:GARD"} @@ -300804,12 +300857,12 @@ synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation synonym: "LGMD-POMT2 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] synonym: "LGMD2N" EXACT ABBREVIATION [DOID:0110298, Orphanet:206559] synonym: "limb-girdle muscular dystrophy type 2N" RELATED [GARD:0012539] -synonym: "MDDGC2" EXACT ABBREVIATION [DOID:0110298, MONDO:Lexical, OMIM:613158] -synonym: "muscular dystrophy, limb-girdle, type 2N" RELATED [OMIM:613158] +synonym: "MDDGC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613158] +synonym: "muscular dystrophy, limb-girdle, type 2N" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2" EXACT [DOID:0110298] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2" RELATED [MONDO:Lexical, OMIM:613158] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2" RELATED [MONDO:Lexical] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related" EXACT [DOID:0110298] -synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related" RELATED [OMIM:613158] +synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related" RELATED [] synonym: "POMT2 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110298 {source="MONDO:equivalentTo"} xref: GARD:12539 {source="MONDO:GARD"} @@ -300837,8 +300890,8 @@ subset: gard_rare {source="GARD:18180", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "nephronophthisis (disease) caused by mutation in XPNPEP3" EXACT [] -synonym: "nephronophthisis-like nephropathy 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613159] -synonym: "nephronophthisis-like nephropathy type 1" EXACT [DOID:0111117, MONDORULE:1, OMIM:613159] +synonym: "nephronophthisis-like nephropathy 1" EXACT CLINGEN_LABEL [DOID:0111117, MONDO:Lexical, OMIM:613159] +synonym: "nephronophthisis-like nephropathy type 1" EXACT [MONDORULE:1] synonym: "NPHP-XPNPEP3" EXACT [PMID:32660933] synonym: "NPHPL1" EXACT ABBREVIATION [DOID:0111117, MONDO:Lexical, OMIM:613159] synonym: "XPNPEP3 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] @@ -300865,10 +300918,10 @@ subset: ordo_disorder {source="Orphanet:65287"} subset: orphanet_rare {source="Orphanet:65287"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Beta-alanine synthase deficiency" EXACT [Orphanet:65287] -synonym: "BETA-ureidopropionase deficiency" RELATED [OMIM:613161] -synonym: "beta-ureidopropionase deficiency" EXACT CLINGEN_LABEL [OMIM:613161] -synonym: "UPB1D" RELATED ABBREVIATION [OMIM:613161] +synonym: "Beta-alanine synthase deficiency" EXACT [icd11.foundation:1227425060, Orphanet:65287] +synonym: "BETA-ureidopropionase deficiency" RELATED [] +synonym: "beta-ureidopropionase deficiency" EXACT CLINGEN_LABEL [icd11.foundation:1227425060, OMIM:613161, Orphanet:65287] +synonym: "UPB1D" RELATED ABBREVIATION [] xref: GARD:16669 {source="MONDO:GARD"} xref: ICD10CM:E79.8 {source="Orphanet:65287/attributed", source="Orphanet:65287/ntbt", source="Orphanet:65287"} xref: icd11.foundation:1227425060 {source="MONDO:equivalentTo"} @@ -300894,11 +300947,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive complex spastic paraplegia caused by mutation in NT5C2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 45" EXACT [DOID:0110797] -synonym: "autosomal recessive spastic paraplegia type 45" EXACT [DOID:0110797] +synonym: "autosomal recessive spastic paraplegia type 45" EXACT [DOID:0110797, Orphanet:320396] synonym: "autosomal recessive spastic paraplegia type 65" EXACT [DOID:0110797, Orphanet:320396] -synonym: "hereditary spastic paraplegia type 45" EXACT [DOID:0110797, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 45" EXACT [MONDORULE:2] synonym: "NT5C2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spastic paraplegia 45, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613162] +synonym: "spastic paraplegia 45, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG45" EXACT ABBREVIATION [DOID:0110797, MONDO:Lexical, OMIM:613162, Orphanet:320396] synonym: "SPG65" EXACT ABBREVIATION [DOID:0110797, Orphanet:320396] xref: DOID:0110797 {source="MONDO:equivalentTo"} @@ -300926,14 +300979,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "4 alpha aminobutyrate transaminase deficiency" RELATED [GARD:0000194] synonym: "ABAT" RELATED ABBREVIATION [GARD:0000194] -synonym: "GABA aminotransferase deficiency" EXACT CLINGEN_LABEL [] +synonym: "GABA aminotransferase deficiency" EXACT CLINGEN_LABEL [DOID:0060174] synonym: "GABA transaminase deficiency" EXACT [GARD:0000194, Orphanet:2066] -synonym: "GABA-transaminase deficiency" RELATED [OMIM:613163] +synonym: "GABA-transaminase deficiency" RELATED [] synonym: "GABAT" RELATED ABBREVIATION [GARD:0000194] synonym: "gamma aminobutyrate transaminase deficiency" RELATED [GARD:0000194] synonym: "gamma aminobutyric acid transaminase deficiency" RELATED [GARD:0000194] synonym: "gamma-amino butyric acid transaminase deficiency" EXACT [DOID:0060174] -synonym: "gamma-aminobutyric acid transaminase deficiency" EXACT [DOID:0060174] +synonym: "gamma-aminobutyric acid transaminase deficiency" EXACT [DOID:0060174, Orphanet:2066] xref: DOID:0060174 {source="MONDO:equivalentTo"} xref: GARD:194 {source="MONDO:GARD"} xref: HGNC:23 {source="GARD:0000194"} @@ -300955,7 +301008,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013167 name: parkinson disease 16 synonym: "PARK16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613164] -synonym: "Parkinson disease 16" RELATED [MONDO:Lexical, OMIM:613164] +synonym: "Parkinson disease 16" RELATED [MONDO:Lexical] xref: MEDGEN:442620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567726 {source="MONDO:equivalentTo"} xref: OMIM:613164 {source="MONDO:equivalentTo"} @@ -300969,10 +301022,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15627", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1DD" RELATED [MONDO:Lexical, OMIM:613172] -synonym: "cardiomyopathy, dilated, type 1Dd" EXACT [MONDORULE:9, OMIM:613172] +synonym: "cardiomyopathy, dilated, 1DD" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Dd" EXACT [MONDORULE:9] synonym: "CMD1DD" EXACT ABBREVIATION [DOID:0110447, MONDO:Lexical, OMIM:613172] -synonym: "dilated cardiomyopathy type 1DD" EXACT [DOID:0110447, MONDORULE:9] +synonym: "dilated cardiomyopathy type 1DD" EXACT [MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in RBM20" EXACT [MONDO:design_pattern] synonym: "RBM20 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110447 {source="MONDO:equivalentTo"} @@ -300996,9 +301049,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:329802"} subset: orphanet_rare {source="Orphanet:329802"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "5p13 microduplication syndrome" EXACT [DOID:0060460] -synonym: "chromosome 5p13 duplication syndrome" EXACT [OMIM:613174] -synonym: "chromosome 5p13 duplication syndrome, isolated cases" EXACT [OMIM:613174, OMIM:genemap2] +synonym: "5p13 microduplication syndrome" EXACT [DOID:0060460, Orphanet:329802] +synonym: "chromosome 5p13 duplication syndrome" EXACT [DOID:0060460, OMIM:613174] +synonym: "chromosome 5p13 duplication syndrome, isolated cases" EXACT [] synonym: "dup(5)(p13)" EXACT [Orphanet:329802] synonym: "trisomy 5p13" EXACT [DOID:0060460, Orphanet:329802] xref: DOID:0060460 {source="MONDO:equivalentTo"} @@ -301029,13 +301082,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:221145"} subset: orphanet_rare {source="Orphanet:221145"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ARCL1C" EXACT ABBREVIATION [DOID:0070139, MONDO:Lexical, OMIM:613177] +synonym: "ARCL1C" EXACT ABBREVIATION [DOID:0070139, MONDO:Lexical, OMIM:613177, Orphanet:221145] synonym: "autosomal recessive cutis laxa type 1C" EXACT [DOID:0070139, Orphanet:221145] -synonym: "autosomal recessive cutis laxa type IC" RELATED [DOID:0070139] -synonym: "cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities" RELATED [OMIM:613177] -synonym: "cutis laxa, autosomal recessive, type 1C" RELATED [OMIM:613177] -synonym: "cutis laxa, autosomal recessive, type IC" RELATED [MONDO:Lexical, OMIM:613177] -synonym: "Urban-Rifkin-Davis syndrome" EXACT [OMIM:613177, Orphanet:221145] +synonym: "autosomal recessive cutis laxa type IC" RELATED [] +synonym: "cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities" RELATED [] +synonym: "cutis laxa, autosomal recessive, type 1C" RELATED [] +synonym: "cutis laxa, autosomal recessive, type IC" RELATED [MONDO:Lexical] +synonym: "Urban-Rifkin-Davis syndrome" EXACT [icd11.foundation:424903269, OMIM:613177, Orphanet:221145] xref: DOID:0070139 {source="MONDO:equivalentTo"} xref: GARD:17140 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:221145", source="Orphanet:221145/attributed", source="Orphanet:221145/ntbt"} @@ -301063,12 +301116,12 @@ subset: orphanet_rare {source="Orphanet:760"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "deficiency of inosine phosphorylase" EXACT [DOID:5813] -synonym: "immunodeficiency due to purine nucleoside phosphorylase deficiency" EXACT [OMIM:613179, OMIM:genemap2] -synonym: "nucleoside phosphorylase deficiency" RELATED [OMIM:613179] -synonym: "PNP deficiency" EXACT [DOID:5813, Orphanet:760] +synonym: "immunodeficiency due to purine nucleoside phosphorylase deficiency" EXACT [] +synonym: "nucleoside phosphorylase deficiency" RELATED [] +synonym: "PNP deficiency" EXACT [DOID:5813, NCIT:C176817, Orphanet:760] synonym: "PNPase deficiency" EXACT [Orphanet:760] -synonym: "purine nucleoside phosphorylase deficiency" EXACT CLINGEN_LABEL [DOID:5813, OMIM:613179] -synonym: "purine-nucleoside phosphorylase deficiency" EXACT [DOID:5813, NCIT:C3963] +synonym: "purine nucleoside phosphorylase deficiency" EXACT CLINGEN_LABEL [DOID:5813, NCIT:C176817, OMIM:613179, Orphanet:760] +synonym: "purine-nucleoside phosphorylase deficiency" EXACT [DOID:5813, NCIT:C176817] xref: DOID:5813 {source="MONDO:equivalentTo"} xref: GARD:4606 {source="MONDO:GARD"} xref: HGNC:7892 {source="GARD:0004606"} @@ -301104,10 +301157,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:250972"} subset: orphanet_rare {source="Orphanet:250972"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDCBM8" RELATED ABBREVIATION [OMIM:613180] -synonym: "cortical dysplasia, Complex, with Other brain malformations 8" RELATED [OMIM:613180] -synonym: "cortical dysplasia, complex, with other brain malformations 8" RELATED [OMIM:613180] -synonym: "polymicrogyria with optic nerve hypoplasia" EXACT [OMIM:613180] +synonym: "CDCBM8" RELATED ABBREVIATION [] +synonym: "cortical dysplasia, Complex, with Other brain malformations 8" RELATED [] +synonym: "cortical dysplasia, complex, with other brain malformations 8" RELATED [] +synonym: "polymicrogyria with optic nerve hypoplasia" EXACT [Orphanet:250972] xref: GARD:20687 {source="MONDO:GARD"} xref: MEDGEN:442565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567715 {source="MONDO:equivalentTo"} @@ -301131,11 +301184,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal recessive 13" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613192] -synonym: "intellectual disability, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:613192] -synonym: "mental retardation, autosomal recessive 13" RELATED DEPRECATED [MONDO:Lexical, OMIM:613192] -synonym: "mental retardation, autosomal recessive type 13" EXACT DEPRECATED [MONDORULE:2, OMIM:613192] -synonym: "MRT13" RELATED DEPRECATED [MONDO:Lexical, OMIM:613192] +synonym: "intellectual disability, autosomal recessive 13" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 13" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 13" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 13" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT13" RELATED DEPRECATED [MONDO:Lexical] synonym: "TRAPPC9 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081098 {source="MONDO:equivalentTo"} xref: GARD:22548 {source="MONDO:GARD"} @@ -301157,14 +301210,14 @@ subset: gard_rare {source="GARD:15628", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD13" EXACT ABBREVIATION [DOID:0110618, MONDO:Lexical, OMIM:613193] -synonym: "ciliary dyskinesia, primary, 13" RELATED [MONDO:Lexical, OMIM:613193] -synonym: "ciliary dyskinesia, primary, 13, with or without situs inversus" RELATED [OMIM:613193] -synonym: "ciliary dyskinesia, primary, type 13" EXACT [MONDORULE:2, OMIM:613193] +synonym: "ciliary dyskinesia, primary, 13" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 13, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 13" EXACT [MONDORULE:2] synonym: "DNAAF1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "primary ciliary dyskinesia 13" EXACT CLINGEN_LABEL [] +synonym: "primary ciliary dyskinesia 13" EXACT CLINGEN_LABEL [DOID:0110618] synonym: "primary ciliary dyskinesia 13 with or without situs inversus" EXACT [DOID:0110618] synonym: "primary ciliary dyskinesia caused by mutation in DNAAF1" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 13" EXACT [DOID:0110618, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 13" EXACT [MONDORULE:2] xref: DOID:0110618 {source="MONDO:equivalentTo"} xref: GARD:15628 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110618"} @@ -301187,11 +301240,11 @@ subset: gard_rare {source="GARD:15629", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BEST1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 50" EXACT [MONDO:Lexical, OMIM:613194] +synonym: "retinitis pigmentosa 50" EXACT [DOID:0110396, MONDO:Lexical, OMIM:613194] synonym: "retinitis pigmentosa caused by mutation in BEST1" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 50" EXACT [DOID:0110396, MONDORULE:2, OMIM:613194] -synonym: "retinitis pigmentosa, concentric" RELATED [OMIM:613194] -synonym: "retinitis pigmentosa-50" EXACT [OMIM:613194, OMIM:genemap2] +synonym: "retinitis pigmentosa type 50" EXACT [MONDORULE:2] +synonym: "retinitis pigmentosa, concentric" RELATED [] +synonym: "retinitis pigmentosa-50" EXACT [] synonym: "RP50" EXACT ABBREVIATION [DOID:0110396, MONDO:Lexical, OMIM:613194] xref: DOID:0110396 {source="MONDO:equivalentTo"} xref: GARD:15629 {source="MONDO:GARD"} @@ -301245,13 +301298,13 @@ subset: orphanet_rare {source="Orphanet:34520"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital muscular dystrophy caused by mutation in ITGA7" EXACT [MONDO:design_pattern] -synonym: "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT [DOID:0110639] +synonym: "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT [DOID:0110639, Orphanet:34520] synonym: "congenital muscular dystrophy with ITGA7 deficiency" EXACT [DOID:0110639, Orphanet:34520] synonym: "congenital myopathy due to integrin alpha-7 deficiency" EXACT [DOID:0110639] synonym: "ITGA7 congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency" RELATED [OMIM:613204] +synonym: "muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency" RELATED [] synonym: "muscular dystrophy, congenital, due to ITGA7 deficiency" RELATED [GARD:0012587] -synonym: "myopathy, congenital, due to integrin Alpha-7 deficiency" RELATED [OMIM:613204] +synonym: "myopathy, congenital, due to integrin Alpha-7 deficiency" RELATED [] xref: DOID:0110639 {source="MONDO:equivalentTo"} xref: GARD:12587 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="DOID:0110639", source="Orphanet:34520/attributed", source="Orphanet:34520/ntbt", source="Orphanet:34520"} @@ -301279,13 +301332,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "congenital muscular dystrophy LMNA-related" EXACT [DOID:0110640] -synonym: "L-CMD" EXACT [DOID:0110640, Orphanet:157973] +synonym: "L-CMD" EXACT ABBREVIATION [DOID:0110640, Orphanet:157973] synonym: "LMNA congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LMNA-related congenital muscular dystrophy" EXACT [DOID:0110640, Orphanet:157973] -synonym: "MDCL" RELATED ABBREVIATION [OMIM:613205] +synonym: "MDCL" RELATED ABBREVIATION [] synonym: "muscular dystrophy Congenital, LMNA-related" EXACT [NCIT:C148369] -synonym: "muscular dystrophy, congenital" EXACT [OMIM:613205, OMIM:genemap2] -synonym: "muscular dystrophy, congenital, LMNA-related" RELATED [GARD:0012585, OMIM:613205] +synonym: "muscular dystrophy, congenital" EXACT [] +synonym: "muscular dystrophy, congenital, LMNA-related" RELATED [GARD:0012585] xref: DOID:0110640 {source="MONDO:equivalentTo"} xref: GARD:12585 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:157973/attributed", source="Orphanet:157973/ntbt", source="Orphanet:157973", source="DOID:0110640"} @@ -301317,10 +301370,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GJC2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 44" EXACT [DOID:0110796] -synonym: "autosomal recessive spastic paraplegia type 44" RELATED [Orphanet:320401] +synonym: "autosomal recessive spastic paraplegia type 44" RELATED [] synonym: "GJC2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia type 44" EXACT [DOID:0110796, MONDORULE:2] -synonym: "spastic paraplegia 44, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613206] +synonym: "hereditary spastic paraplegia type 44" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 44, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG44" EXACT ABBREVIATION [DOID:0110796, MONDO:Lexical, OMIM:613206, Orphanet:320401] xref: DOID:0110796 {source="MONDO:equivalentTo"} xref: GARD:17478 {source="MONDO:GARD"} @@ -301340,10 +301393,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013180 name: asthma-related traits, susceptibility to, 8 subset: predisposition -synonym: "ASRT8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613207] -synonym: "asthma-RELATED traits, susceptibility to, 8" RELATED [OMIM:613207] +synonym: "ASRT8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "asthma-RELATED traits, susceptibility to, 8" RELATED [] synonym: "asthma-related traits, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:613207] -synonym: "Rhinoconjunctivitis, susceptibility to" RELATED [OMIM:613207] +synonym: "Rhinoconjunctivitis, susceptibility to" RELATED [] xref: MEDGEN:442562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613207 {source="MONDO:equivalentTo"} xref: UMLS:C2750782 {source="MEDGEN:442562", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -301357,11 +301410,11 @@ subset: gard_rare {source="GARD:15630", source="MONDO:GARD"} subset: rare synonym: "AI2A3" EXACT ABBREVIATION [DOID:0110061, MONDO:Lexical, OMIM:613211] synonym: "amelogenesis imperfecta caused by mutation in WDR72" EXACT [MONDO:design_pattern] -synonym: "amelogenesis imperfecta hypomaturation type 2A3" EXACT CLINGEN_LABEL [] +synonym: "amelogenesis imperfecta hypomaturation type 2A3" EXACT CLINGEN_LABEL [DOID:0110061] synonym: "amelogenesis imperfecta hypomaturation type IIA3" EXACT [DOID:0110061] synonym: "amelogenesis imperfecta type IIA3" EXACT [DOID:0110061] -synonym: "amelogenesis imperfecta, hypomaturation type, IIA3" RELATED [MONDO:Lexical, OMIM:613211] -synonym: "amelogenesis imperfecta, type IIA3" EXACT [OMIM:613211, OMIM:genemap2] +synonym: "amelogenesis imperfecta, hypomaturation type, IIA3" RELATED [MONDO:Lexical] +synonym: "amelogenesis imperfecta, type IIA3" EXACT [] synonym: "WDR72 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110061 {source="MONDO:equivalentTo"} xref: GARD:15630 {source="MONDO:GARD"} @@ -301390,9 +301443,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:217385"} subset: orphanet_rare {source="Orphanet:217385"} subset: rare synonym: "17p13.3 duplication syndrome" EXACT [DOID:0060432, Orphanet:217385] -synonym: "17p13.3 microduplication syndrome" EXACT [DOID:0060432] +synonym: "17p13.3 microduplication syndrome" EXACT [DOID:0060432, Orphanet:217385] synonym: "chromosome 17p13.3 centromeric duplication syndrome" EXACT [DOID:0060432] -synonym: "chromosome 17p13.3, centromeric, DUPLICATION syndrome" RELATED [OMIM:613215] +synonym: "chromosome 17p13.3, centromeric, DUPLICATION syndrome" RELATED [] synonym: "dup(17)(p13.3)" EXACT [Orphanet:217385] synonym: "trisomy 17p13.3" EXACT [DOID:0060432, Orphanet:217385] xref: DOID:0060432 {source="MONDO:equivalentTo"} @@ -301418,14 +301471,14 @@ name: congenital stationary night blindness 1C def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15631", source="MONDO:GARD"} subset: rare -synonym: "congenital stationary night blindness 1C" EXACT CLINGEN_LABEL [] +synonym: "congenital stationary night blindness 1C" EXACT CLINGEN_LABEL [DOID:0110867] synonym: "congenital stationary night blindness 1C autosomal recessive" EXACT [DOID:0110867] synonym: "congenital stationary night blindness caused by mutation in TRPM1" EXACT [MONDO:design_pattern] -synonym: "congenital stationary night blindness type 1C" EXACT [DOID:0110867, MONDORULE:4] -synonym: "CSNB, complete, autosomal recessive" RELATED [OMIM:613216] +synonym: "congenital stationary night blindness type 1C" EXACT [MONDORULE:4] +synonym: "CSNB, complete, autosomal recessive" RELATED [] synonym: "CSNB1C" EXACT ABBREVIATION [DOID:0110867, MONDO:Lexical, OMIM:613216] -synonym: "night blindness, congenital stationary (complete), 1C, autosomal recessive" EXACT [OMIM:613216, OMIM:genemap2] -synonym: "night blindness, congenital stationary, type 1C" RELATED [MONDO:Lexical, OMIM:613216] +synonym: "night blindness, congenital stationary (complete), 1C, autosomal recessive" EXACT [] +synonym: "night blindness, congenital stationary, type 1C" RELATED [MONDO:Lexical] synonym: "TRPM1 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110867 {source="MONDO:equivalentTo"} xref: GARD:15631 {source="MONDO:GARD"} @@ -301452,21 +301505,21 @@ subset: ordo_disorder {source="Orphanet:92050"} subset: orphanet_rare {source="Orphanet:92050"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital diarrhea 5 with tufting enteropathy" EXACT CLINGEN_LABEL [] +synonym: "congenital diarrhea 5 with tufting enteropathy" EXACT CLINGEN_LABEL [DOID:0060776] synonym: "congenital enteropathy" RELATED [GARD:0010630] synonym: "congenital familial intractable diarrhea with enterocytes assembly abnormalities" RELATED [GARD:0010630] synonym: "congenital familial intractable diarrhea with epithelial or epithelium abnormalities" EXACT [DOID:0060776] synonym: "congenital familial intractable diarrhoea with enterocytes assembly abnormalities" RELATED OMO:0003005 [] -synonym: "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities" EXACT OMO:0003005 [] -synonym: "congenital tufting enteropathy" EXACT [DOID:0060776] +synonym: "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities" EXACT OMO:0003005 [DOID:0060776] +synonym: "congenital tufting enteropathy" EXACT [DOID:0060776, Orphanet:92050] synonym: "DIAR5" EXACT ABBREVIATION [DOID:0060776, MONDO:Lexical, OMIM:613217] -synonym: "diarrhea 5, with tufting enteropathy, congenital" RELATED [MONDO:Lexical, OMIM:613217] +synonym: "diarrhea 5, with tufting enteropathy, congenital" RELATED [MONDO:Lexical] synonym: "diarrhoea 5, with tufting enteropathy, congenital" RELATED OMO:0003005 [] -synonym: "enteropathy, congenital tufting" RELATED [OMIM:613217] +synonym: "enteropathy, congenital tufting" RELATED [] synonym: "EPCAM secretory diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EPCAM secretory diarrhoea" EXACT OMO:0003005 [] synonym: "IED" EXACT ABBREVIATION [Orphanet:92050] -synonym: "intestinal epithelial cell dysplasia" RELATED [OMIM:613217] +synonym: "intestinal epithelial cell dysplasia" RELATED [] synonym: "intestinal epithelial dysplasia" EXACT [Orphanet:92050] synonym: "secretory diarrhea caused by mutation in EPCAM" EXACT [MONDO:design_pattern] synonym: "secretory diarrhoea caused by mutation in EPCAM" EXACT OMO:0003005 [] @@ -301493,11 +301546,11 @@ name: leprosy, susceptibility to, 5 def: "Any leprosy in which the cause of the disease is a mutation in the TLR1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "leprosy caused by mutation in TLR1" EXACT [MONDO:design_pattern] -synonym: "leprosy, protection against" RELATED [OMIM:613223] +synonym: "leprosy, protection against" RELATED [] synonym: "leprosy, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:613223] -synonym: "leprosy, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:613223] -synonym: "LPRS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613223] -synonym: "susceptibility to leprosy 5" RELATED [OMIM:613223] +synonym: "leprosy, susceptibility to, type 5" EXACT [MONDORULE:1] +synonym: "LPRS5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to leprosy 5" RELATED [] synonym: "TLR1 leprosy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:442551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613223 {source="MONDO:equivalentTo"} @@ -301515,12 +301568,12 @@ def: "Any Noonan syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:10701", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Noonan syndrome 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613224] +synonym: "Noonan syndrome 6" EXACT CLINGEN_LABEL [DOID:0060584, MONDO:Lexical, NCIT:C176934, OMIM:613224] synonym: "Noonan syndrome caused by mutation in NRAS" EXACT [MONDO:design_pattern] -synonym: "Noonan syndrome type 6" EXACT [DOID:0060584, MONDORULE:1, OMIM:613224] +synonym: "Noonan syndrome type 6" EXACT [MONDORULE:1] synonym: "NRAS gene related Noonan syndrome" RELATED [GARD:0010701] synonym: "NRAS Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "NS6" EXACT ABBREVIATION [DOID:0060584, MONDO:Lexical, OMIM:613224] +synonym: "NS6" EXACT ABBREVIATION [DOID:0060584, MONDO:Lexical, NCIT:C176934, OMIM:613224] xref: DOID:0060584 {source="MONDO:equivalentTo"} xref: GARD:10701 {source="MONDO:GARD"} xref: MEDGEN:413028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -301544,7 +301597,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "factor XIII, A subunit, deficiency of" EXACT CLINGEN_LABEL [OMIM:613225] -synonym: "factor XIIIA deficiency" EXACT [OMIM:613225, OMIM:genemap2] +synonym: "factor XIIIA deficiency" EXACT [] synonym: "hereditary factor XIII A subunit deficiency" EXACT [] synonym: "hereditary factor XIII alpha subunit deficiency" EXACT [] synonym: "hereditary factor XIII type II deficiency" EXACT [] @@ -301568,13 +301621,13 @@ subset: gard_rare {source="GARD:15634", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CA8 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "CAMRQ3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613227] -synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3" RELATED [OMIM:613227] -synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" RELATED DEPRECATED [OMIM:613227] -synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613227] -synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3" EXACT [MONDORULE:1, OMIM:613227] -synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" EXACT DEPRECATED [MONDO:Lexical, OMIM:613227] -synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:613227] +synonym: "CAMRQ3" RELATED DEPRECATED [MONDO:Lexical] +synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3" RELATED [] +synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" RELATED DEPRECATED [] +synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3" EXACT [MONDORULE:1] +synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" EXACT DEPRECATED [DOID:0070558, MONDO:Lexical, OMIM:613227] +synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3" EXACT DEPRECATED [MONDORULE:1] synonym: "dysequilibrium syndrome caused by mutation in CA8" EXACT [MONDO:design_pattern] xref: DOID:0070558 {source="MONDO:equivalentTo"} xref: GARD:15634 {source="MONDO:GARD"} @@ -301592,9 +301645,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013189 name: trichotillomania def: "A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair." [NCIT:C94336] -synonym: "trichotillomania" EXACT [MONDO:Lexical, OMIM:613229] -synonym: "trichotillomania, multifactorial" EXACT [OMIM:613229, OMIM:genemap2] -synonym: "TTM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613229] +synonym: "trichotillomania" EXACT [DOID:0050587, ICD10CM:F63.3, icd11.foundation:1253999657, MONDO:Lexical, NCIT:C94336, OMIM:613229] +synonym: "trichotillomania, multifactorial" EXACT [] +synonym: "TTM" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0050587 {source="MONDO:equivalentTo"} xref: ICD10CM:F63.3 {source="MONDO:equivalentTo"} xref: icd11.foundation:1253999657 {source="MONDO:equivalentTo"} @@ -301618,7 +301671,7 @@ subset: gard_rare {source="GARD:15635", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "factor XIII, b subunit, deficiency of" EXACT CLINGEN_LABEL [OMIM:613235] -synonym: "factor XIIIB deficiency" EXACT [OMIM:613235, OMIM:genemap2] +synonym: "factor XIIIB deficiency" EXACT [] xref: GARD:15635 {source="MONDO:GARD"} xref: MEDGEN:442490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567688 {source="MONDO:equivalentTo"} @@ -301637,11 +301690,11 @@ def: "Any focal segmental glomerulosclerosis in which the cause of the disease i subset: gard_rare {source="GARD:15636", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "focal segmental glomerulosclerosis 5" EXACT [MONDO:Lexical, OMIM:613237] +synonym: "focal segmental glomerulosclerosis 5" EXACT [DOID:0111130, MONDO:Lexical, OMIM:613237] synonym: "focal segmental glomerulosclerosis caused by mutation in INF2" EXACT [MONDO:design_pattern] -synonym: "focal segmental glomerulosclerosis type 5" EXACT [DOID:0111130, MONDORULE:1, OMIM:613237] +synonym: "focal segmental glomerulosclerosis type 5" EXACT [MONDORULE:1] synonym: "FSGS5" EXACT ABBREVIATION [DOID:0111130, MONDO:Lexical, OMIM:613237] -synonym: "glomerulosclerosis, focal segmental, 5" RELATED [OMIM:613237] +synonym: "glomerulosclerosis, focal segmental, 5" RELATED [] synonym: "INF2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111130 {source="MONDO:equivalentTo"} xref: GARD:15636 {source="MONDO:GARD"} @@ -301659,7 +301712,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013192 name: spondyloarthropathy, susceptibility to, 3 subset: predisposition -synonym: "SPDA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613238] +synonym: "SPDA3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "spondyloarthropathy, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613238] xref: DOID:0080605 {source="MONDO:equivalentTo"} xref: MEDGEN:413852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -301675,8 +301728,8 @@ subset: predisposition synonym: "KCNJ18 thyrotoxic periodic paralysis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "thyrotoxic periodic paralysis caused by mutation in KCNJ18" EXACT [MONDO:design_pattern] synonym: "thyrotoxic periodic paralysis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:613239] -synonym: "thyrotoxic periodic paralysis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613239] -synonym: "TTPP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613239] +synonym: "thyrotoxic periodic paralysis, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "TTPP2" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:413851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613239 {source="MONDO:equivalentTo"} xref: Orphanet:79102 {source="OMIM:613239"} @@ -301708,12 +301761,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathy familial hypertrophic 13" EXACT [DOID:0110319] -synonym: "cardiomyopathy, familial hypertrophic, 13" RELATED [MONDO:Lexical, OMIM:613243] -synonym: "cardiomyopathy, familial hypertrophic, type 13" EXACT [MONDORULE:2, OMIM:613243] -synonym: "cardiomyopathy, hypertrophic, 13" EXACT [OMIM:613243, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 13" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 13" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, hypertrophic, 13" EXACT [] synonym: "CMH13" EXACT ABBREVIATION [DOID:0110319, MONDO:Lexical, OMIM:613243] synonym: "hypertrophic cardiomyopathy caused by mutation in TNNC1" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 13" EXACT [DOID:0110319, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 13" EXACT [MONDORULE:2] synonym: "TNNC1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110319 {source="MONDO:equivalentTo"} xref: MEDGEN:442487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -301739,7 +301792,7 @@ subset: rare synonym: "colorectal cancer, hereditary nonpolyposis, type 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613244] synonym: "EPCAM hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary nonpolyposis colon cancer caused by mutation in EPCAM" EXACT [MONDO:design_pattern] -synonym: "HNPCC8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613244] +synonym: "HNPCC8" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070270 {source="MONDO:equivalentTo"} xref: GARD:15638 {source="MONDO:GARD"} xref: MEDGEN:412966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -301762,12 +301815,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy familial hypertrophic 14" EXACT [DOID:0110320] -synonym: "cardiomyopathy, familial hypertrophic, 14" RELATED [MONDO:Lexical, OMIM:613251] -synonym: "cardiomyopathy, familial hypertrophic, type 14" EXACT [MONDORULE:2, OMIM:613251] -synonym: "cardiomyopathy, hypertrophic, 14" EXACT [OMIM:613251, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 14" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 14" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, hypertrophic, 14" EXACT [] synonym: "CMH14" EXACT ABBREVIATION [DOID:0110320, MONDO:Lexical, OMIM:613251] synonym: "hypertrophic cardiomyopathy caused by mutation in MYH6" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 14" EXACT [DOID:0110320, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 14" EXACT [MONDORULE:2] synonym: "MYH6 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110320 {source="MONDO:equivalentTo"} xref: MEDGEN:442484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -301789,10 +301842,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15639", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1EE" RELATED [MONDO:Lexical, OMIM:613252] -synonym: "cardiomyopathy, dilated, type 1Ee" EXACT [MONDORULE:9, OMIM:613252] +synonym: "cardiomyopathy, dilated, 1EE" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Ee" EXACT [MONDORULE:9] synonym: "CMD1EE" EXACT ABBREVIATION [DOID:0110453, MONDO:Lexical, OMIM:613252] -synonym: "dilated cardiomyopathy type 1EE" EXACT [DOID:0110453, MONDORULE:9] +synonym: "dilated cardiomyopathy type 1EE" EXACT [MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in MYH6" EXACT [MONDO:design_pattern] synonym: "MYH6 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110453 {source="MONDO:equivalentTo"} @@ -301813,12 +301866,12 @@ def: "Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene)." [NCIT:C75331 subset: gard_rare {source="GARD:15640", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "TSC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613254] -synonym: "TSC2 Angiomyolipomas, renal, modifier of" RELATED [OMIM:613254] -synonym: "tuberous sclerosis 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613254] -synonym: "tuberous sclerosis type 2" EXACT [MONDORULE:1, OMIM:613254] +synonym: "TSC2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "TSC2 Angiomyolipomas, renal, modifier of" RELATED [] +synonym: "tuberous sclerosis 2" EXACT CLINGEN_LABEL [DOID:0080325, MONDO:Lexical, NCIT:C75331, OMIM:613254] +synonym: "tuberous sclerosis type 2" EXACT [MONDORULE:1] synonym: "tuberous sclerosis, type 2" RELATED [GARD:0005381] -synonym: "tuberous sclerosis-2" EXACT [OMIM:613254, OMIM:genemap2] +synonym: "tuberous sclerosis-2" EXACT [] xref: DOID:0080325 {source="MONDO:equivalentTo"} xref: GARD:15640 {source="MONDO:GARD"} xref: MEDGEN:348170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -301840,12 +301893,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy familial hypertrophic 15" EXACT [DOID:0110321] -synonym: "cardiomyopathy, familial hypertrophic, 15" RELATED [MONDO:Lexical, OMIM:613255] -synonym: "cardiomyopathy, familial hypertrophic, type 15" EXACT [MONDORULE:2, OMIM:613255] -synonym: "cardiomyopathy, hypertrophic, 15" EXACT [OMIM:613255, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 15" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 15" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, hypertrophic, 15" EXACT [] synonym: "CMH15" EXACT ABBREVIATION [DOID:0110321, MONDO:Lexical, OMIM:613255] synonym: "hypertrophic cardiomyopathy caused by mutation in VCL" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 15" EXACT [DOID:0110321, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 15" EXACT [MONDORULE:2] synonym: "VCL hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110321 {source="MONDO:equivalentTo"} xref: MEDGEN:413312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -301870,11 +301923,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "EDN3 Waardenburg syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Waardenburg syndrome caused by mutation in EDN3" EXACT [MONDO:design_pattern] -synonym: "Waardenburg syndrome type 4B" EXACT CLINGEN_LABEL [] +synonym: "Waardenburg syndrome type 4B" EXACT CLINGEN_LABEL [DOID:0110954] synonym: "Waardenburg syndrome type IVB" EXACT [DOID:0110954] synonym: "Waardenburg syndrome with Hirschsprung disease type 4B" EXACT [DOID:0110954] -synonym: "Waardenburg syndrome, type 4B" RELATED [MONDO:Lexical, OMIM:613265] -synonym: "Waardenburg syndrome, type 4B, with Hirschsprung disease" RELATED [OMIM:613265] +synonym: "Waardenburg syndrome, type 4B" RELATED [MONDO:Lexical] +synonym: "Waardenburg syndrome, type 4B, with Hirschsprung disease" RELATED [] synonym: "WS4B" EXACT ABBREVIATION [DOID:0110954, MONDO:Lexical, OMIM:613265] xref: DOID:0110954 {source="MONDO:equivalentTo"} xref: GARD:15641 {source="MONDO:GARD"} @@ -301899,11 +301952,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15642", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Waardenburg syndrome type 4C" EXACT CLINGEN_LABEL [] +synonym: "Waardenburg syndrome type 4C" EXACT CLINGEN_LABEL [DOID:0110955] synonym: "Waardenburg syndrome type IVC" EXACT [DOID:0110955] synonym: "Waardenburg syndrome with Hirschsprung disease type 4C" EXACT [DOID:0110955] -synonym: "Waardenburg syndrome with Hirschsprung disease, type 4C" RELATED [OMIM:613266] -synonym: "Waardenburg syndrome, type 4C" RELATED [MONDO:Lexical, OMIM:613266] +synonym: "Waardenburg syndrome with Hirschsprung disease, type 4C" RELATED [] +synonym: "Waardenburg syndrome, type 4C" RELATED [MONDO:Lexical] synonym: "WS4C" EXACT ABBREVIATION [DOID:0110955, MONDO:Lexical, OMIM:613266] xref: DOID:0110955 {source="MONDO:equivalentTo"} xref: GARD:15642 {source="MONDO:GARD"} @@ -301926,10 +301979,10 @@ subset: gard_rare {source="GARD:18218", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "corneal dystrophy, Fuchs endothelial, 3" EXACT [MONDO:Lexical, OMIM:613267] -synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613267] -synonym: "corneal dystrophy, Fuchs endothelial, type 3" EXACT [MONDORULE:1, OMIM:613267] -synonym: "Fcd2 locus" RELATED [OMIM:613267] -synonym: "FECD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613267] +synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [] +synonym: "corneal dystrophy, Fuchs endothelial, type 3" EXACT [MONDORULE:1] +synonym: "Fcd2 locus" RELATED [] +synonym: "FECD3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Fuchs' endothelial dystrophy caused by mutation in TCF4" EXACT [MONDO:design_pattern] synonym: "TCF4 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18218 {source="MONDO:GARD"} @@ -301951,9 +302004,9 @@ subset: gard_rare {source="GARD:18219", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "corneal dystrophy, Fuchs endothelial, 4" EXACT [MONDO:Lexical, OMIM:613268] -synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613268] -synonym: "corneal dystrophy, Fuchs endothelial, type 4" EXACT [MONDORULE:1, OMIM:613268] -synonym: "FECD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613268] +synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [] +synonym: "corneal dystrophy, Fuchs endothelial, type 4" EXACT [MONDORULE:1] +synonym: "FECD4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Fuchs' endothelial dystrophy caused by mutation in SLC4A11" EXACT [MONDO:design_pattern] synonym: "SLC4A11 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18219 {source="MONDO:GARD"} @@ -301973,9 +302026,9 @@ name: corneal dystrophy, fuchs endothelial, 5 subset: gard_rare {source="GARD:18220", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "corneal dystrophy, Fuchs endothelial, 5" RELATED [MONDO:Lexical, OMIM:613269] -synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613269] -synonym: "Fcd3 locus" RELATED [OMIM:613269] +synonym: "corneal dystrophy, Fuchs endothelial, 5" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [] +synonym: "Fcd3 locus" RELATED [] synonym: "FECD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613269] xref: GARD:18220 {source="MONDO:GARD"} xref: MEDGEN:413308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -301993,9 +302046,9 @@ subset: gard_rare {source="GARD:18221", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "corneal dystrophy, Fuchs endothelial, 6" EXACT [MONDO:Lexical, OMIM:613270] -synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613270] -synonym: "corneal dystrophy, Fuchs endothelial, type 6" EXACT [MONDORULE:1, OMIM:613270] -synonym: "FECD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613270] +synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [] +synonym: "corneal dystrophy, Fuchs endothelial, type 6" EXACT [MONDORULE:1] +synonym: "FECD6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Fuchs' endothelial dystrophy caused by mutation in ZEB1" EXACT [MONDO:design_pattern] synonym: "ZEB1 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18221 {source="MONDO:GARD"} @@ -302015,9 +302068,9 @@ name: corneal dystrophy, fuchs endothelial, 7 subset: gard_rare {source="GARD:18222", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "corneal dystrophy, Fuchs endothelial, 7" RELATED [MONDO:Lexical, OMIM:613271] -synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613271] -synonym: "Fcd4 locus" RELATED [OMIM:613271] +synonym: "corneal dystrophy, Fuchs endothelial, 7" RELATED [MONDO:Lexical] +synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [] +synonym: "Fcd4 locus" RELATED [] synonym: "FECD7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613271] xref: GARD:18222 {source="MONDO:GARD"} xref: MEDGEN:413849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -302037,11 +302090,11 @@ subset: orphanet_rare {source="Orphanet:309854"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome" EXACT CLINGEN_LABEL [] -synonym: "HMDPC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613280] -synonym: "HMNDYT1" RELATED ABBREVIATION [OMIM:613280] -synonym: "hypermanganesemia with dystonia 1" RELATED [OMIM:613280] +synonym: "HMDPC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "HMNDYT1" RELATED ABBREVIATION [] +synonym: "hypermanganesemia with dystonia 1" RELATED [] synonym: "hypermanganesemia with dystonia polycythemia and cirrhosis" RELATED [GARD:0010706] -synonym: "hypermanganesemia with dystonia, polycythemia, and cirrhosis" RELATED [MONDO:Lexical, OMIM:613280] +synonym: "hypermanganesemia with dystonia, polycythemia, and cirrhosis" RELATED [MONDO:Lexical] xref: DOID:0080536 {source="MONDO:equivalentTo"} xref: GARD:10706 {source="MONDO:GARD"} xref: ICD9:277.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -302064,15 +302117,15 @@ def: "Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly subset: otar {source="MONDO:OTAR"} subset: predisposition synonym: "fatty liver disease, nonalcoholic" EXACT [MONDO:0000031] -synonym: "fatty liver disease, nonalcoholic, susceptibility to, 1" RELATED [MONDO:Lexical, OMIM:613282] -synonym: "liver disease, alcoholic, susceptibility to, 1" RELATED [OMIM:613282] -synonym: "MASLD" EXACT ABBREVIATION [https://www.verywellhealth.com/how-dangerous-is-non-alcoholic-fatty-liver-disease-2223390] -synonym: "NAFLD" EXACT ABBREVIATION [Orphanet:33271] +synonym: "fatty liver disease, nonalcoholic, susceptibility to, 1" RELATED [MONDO:Lexical] +synonym: "liver disease, alcoholic, susceptibility to, 1" RELATED [] +synonym: "MASLD" EXACT ABBREVIATION [DOID:0080208, https://www.verywellhealth.com/how-dangerous-is-non-alcoholic-fatty-liver-disease-2223390] +synonym: "NAFLD" EXACT ABBREVIATION [DOID:0080208] synonym: "NAFLD - nonalcoholic fatty liver disease" EXACT [NCIT:C84444] -synonym: "NAFLD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613282] -synonym: "non-alcoholic fatty liver" EXACT [MONDO:0007026] -synonym: "non-alcoholic fatty liver disease" EXACT [DOID:0080208] -synonym: "nonalcoholic fatty liver disease" EXACT [NCIT:C84444] +synonym: "NAFLD1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "non-alcoholic fatty liver" EXACT [DOID:0080546, MONDO:0007026] +synonym: "non-alcoholic fatty liver disease" EXACT [DOID:0080208, NCIT:C84444] +synonym: "nonalcoholic fatty liver disease" EXACT [DOID:0080208, NCIT:C84444] xref: DOID:0080208 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0080546 {source="MONDO:equivalentTo"} xref: EFO:0003095 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -302094,14 +302147,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22632", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 25" NARROW [DOID:0110483] -synonym: "autosomal recessive nonsyndromic deafness 25" NARROW [OMIM:613285] +synonym: "autosomal recessive deafness 25" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 25" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 25" NARROW [DOID:0110483, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 25" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 25" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 25" NARROW [MONDO:Lexical, OMIM:613285, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 25" NARROW [MONDORULE:2, OMIM:613285] -synonym: "DFNB25" NARROW ABBREVIATION [DOID:0110483, MONDO:Lexical, OMIM:613285] +synonym: "deafness, autosomal recessive 25" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 25" NARROW [MONDORULE:2] +synonym: "DFNB25" NARROW ABBREVIATION [MONDO:Lexical] synonym: "GRXCR1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110483 {source="MONDO:equivalentTo"} xref: GARD:22632 {source="MONDO:GARD"} @@ -302124,10 +302177,10 @@ def: "A dilated cardiomyopathy that has material basis in mutation in the TNNI3 subset: gard_rare {source="GARD:15643", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1FF" RELATED [MONDO:Lexical, OMIM:613286] -synonym: "cardiomyopathy, dilated, type 1Ff" EXACT [MONDORULE:9, OMIM:613286] +synonym: "cardiomyopathy, dilated, 1FF" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Ff" EXACT [MONDORULE:9] synonym: "CMD1FF" EXACT ABBREVIATION [DOID:0110459, MONDO:Lexical, OMIM:613286] -synonym: "dilated cardiomyopathy type 1FF" EXACT [DOID:0110459, MONDORULE:9] +synonym: "dilated cardiomyopathy type 1FF" EXACT [MONDORULE:9] xref: DOID:0110459 {source="MONDO:equivalentTo"} xref: GARD:15643 {source="MONDO:GARD"} xref: ICD10CM:I42.0 {source="DOID:0110459"} @@ -302151,13 +302204,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177, Orphanet:228174] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in AARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2N" RELATED [GARD:0012429] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N" RELATED [OMIM:613287] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2N" RELATED [MONDO:Lexical, OMIM:613287] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2N" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2N" EXACT [DOID:0110177] -synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2N" RELATED [OMIM:613287] +synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2N" RELATED [] synonym: "CMT2N" EXACT ABBREVIATION [DOID:0110177, MONDO:Lexical, OMIM:613287, Orphanet:228174] xref: DOID:0110177 {source="MONDO:equivalentTo"} xref: GARD:12429 {source="MONDO:GARD"} @@ -302190,9 +302243,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013214 name: bile acid malabsorption, primary, 1 -synonym: "bile acid malabsorption, primary" EXACT [MONDO:Lexical, OMIM:613291] -synonym: "Bile acid malabsorption, primary, 1" EXACT [OMIM:613291, OMIM:genemap2] -synonym: "PBAM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613291] +synonym: "bile acid malabsorption, primary" EXACT [MONDO:Lexical] +synonym: "Bile acid malabsorption, primary, 1" EXACT [OMIM:613291] +synonym: "PBAM" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:1794144 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567652 {source="MONDO:equivalentTo"} xref: OMIM:613291 {source="MONDO:equivalentTo"} @@ -302209,14 +302262,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22633", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 79" NARROW [DOID:0110526] -synonym: "autosomal recessive nonsyndromic deafness 79" NARROW [OMIM:613307] +synonym: "autosomal recessive deafness 79" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 79" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TPRN" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 79" NARROW [DOID:0110526, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 79" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 79" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 79" NARROW [MONDO:Lexical, OMIM:613307, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 79" NARROW [MONDORULE:2, OMIM:613307] -synonym: "DFNB79" NARROW ABBREVIATION [DOID:0110526, MONDO:Lexical, OMIM:613307] +synonym: "deafness, autosomal recessive 79" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 79" NARROW [MONDORULE:2] +synonym: "DFNB79" NARROW ABBREVIATION [MONDO:Lexical] synonym: "TPRN autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110526 {source="MONDO:equivalentTo"} xref: GARD:22633 {source="MONDO:GARD"} @@ -302239,12 +302292,12 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15644", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613308] +synonym: "DBA9" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS10" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 9" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 9" EXACT [MONDO:Lexical, OMIM:613308] +synonym: "Diamond-Blackfan anemia 9" EXACT [DOID:0111884, MONDO:Lexical, NCIT:C176918, OMIM:613308] synonym: "Diamond-Blackfan anemia caused by mutation in RPS10" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 9" EXACT [MONDORULE:1, OMIM:613308] +synonym: "Diamond-Blackfan Anemia type 9" EXACT [MONDORULE:1] synonym: "RPS10 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS10 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111884 {source="MONDO:equivalentTo"} @@ -302267,12 +302320,12 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15645", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613309] +synonym: "DBA10" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS26" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 10" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 10" EXACT [MONDO:Lexical, OMIM:613309] +synonym: "Diamond-Blackfan anemia 10" EXACT [DOID:0111888, MONDO:Lexical, NCIT:C176919, OMIM:613309] synonym: "Diamond-Blackfan anemia caused by mutation in RPS26" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 10" EXACT [MONDORULE:2, OMIM:613309] +synonym: "Diamond-Blackfan Anemia type 10" EXACT [MONDORULE:2] synonym: "RPS26 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111888 {source="MONDO:equivalentTo"} @@ -302294,10 +302347,10 @@ def: "Any exudative vitreoretinopathy in which the cause of the disease is a mut subset: gard_rare {source="GARD:15646", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EVR5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613310] -synonym: "exudative vitreoretinopathy 5" EXACT [MONDO:Lexical, OMIM:613310] +synonym: "EVR5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "exudative vitreoretinopathy 5" EXACT [DOID:0111408, MONDO:Lexical, OMIM:613310] synonym: "exudative vitreoretinopathy caused by mutation in TSPAN12" EXACT [MONDO:design_pattern] -synonym: "exudative vitreoretinopathy type 5" EXACT [MONDORULE:1, OMIM:613310] +synonym: "exudative vitreoretinopathy type 5" EXACT [MONDORULE:1] synonym: "TSPAN12 exudative vitreoretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111408 {source="MONDO:equivalentTo"} xref: GARD:15646 {source="MONDO:GARD"} @@ -302320,12 +302373,12 @@ def: "Any autosomal recessive hypophosphatemic rickets in which the cause of the subset: gard_rare {source="GARD:18417", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:2000"} subset: rare -synonym: "ARHR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613312] +synonym: "ARHR2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1" EXACT [MONDO:design_pattern] synonym: "Autosomal Recessive Hypophosphatemic Rickets Type 2" EXACT [NORD:2000] synonym: "ENPP1 autosomal recessive hypophosphatemic rickets" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypophosphatemic rickets, autosomal recessive, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613312] -synonym: "hypophosphatemic rickets, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:613312] +synonym: "hypophosphatemic rickets, autosomal recessive, type 2" EXACT [MONDORULE:1] xref: GARD:18417 {source="MONDO:GARD"} xref: MEDGEN:442380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567647 {source="MONDO:equivalentTo"} @@ -302352,7 +302405,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HAMP hemochromatosis type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hemochromatosis type 2 caused by mutation in HAMP" EXACT [MONDO:design_pattern] -synonym: "hemochromatosis, type 2B" RELATED [MONDO:Lexical, OMIM:613313] +synonym: "hemochromatosis, type 2B" RELATED [MONDO:Lexical] synonym: "HFE2B" EXACT ABBREVIATION [DOID:0111032, MONDO:Lexical, OMIM:613313] xref: DOID:0111032 {source="MONDO:equivalentTo"} xref: GARD:15647 {source="MONDO:GARD"} @@ -302372,10 +302425,10 @@ id: MONDO:0013221 name: Miyoshi muscular dystrophy 2 subset: gard_rare {source="GARD:15648", source="MONDO:GARD"} subset: rare -synonym: "MIYOSHI muscular dystrophy 2" RELATED [OMIM:613318] -synonym: "Miyoshi muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:613318] -synonym: "Miyoshi myopathy 2" RELATED [OMIM:613318] -synonym: "MMD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613318] +synonym: "MIYOSHI muscular dystrophy 2" RELATED [] +synonym: "Miyoshi muscular dystrophy 2" EXACT [DOID:0070200, MONDO:Lexical, OMIM:613318] +synonym: "Miyoshi myopathy 2" RELATED [] +synonym: "MMD2" EXACT ABBREVIATION [DOID:0070200, MONDO:Lexical, OMIM:613318] xref: DOID:0070200 {source="MONDO:equivalentTo"} xref: GARD:15648 {source="MONDO:GARD"} xref: MEDGEN:413751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -302396,10 +302449,10 @@ subset: orphanet_rare {source="Orphanet:399096"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal anoctaminopathy" EXACT [Orphanet:399096] -synonym: "Miyoshi muscular dystrophy 3" EXACT [MONDO:Lexical, OMIM:613319] -synonym: "Miyoshi muscular dystrophy type 3" EXACT [MONDORULE:1, OMIM:613319, Orphanet:399096] -synonym: "Miyoshi myopathy 3" RELATED [OMIM:613319] -synonym: "MMD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613319, Orphanet:399096] +synonym: "Miyoshi muscular dystrophy 3" EXACT [DOID:0070201, MONDO:Lexical, OMIM:613319] +synonym: "Miyoshi muscular dystrophy type 3" EXACT [MONDORULE:1, Orphanet:399096] +synonym: "Miyoshi myopathy 3" RELATED [] +synonym: "MMD3" EXACT ABBREVIATION [DOID:0070201, MONDO:Lexical, OMIM:613319, Orphanet:399096] xref: DOID:0070201 {source="MONDO:equivalentTo"} xref: GARD:17653 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:399096/attributed", source="Orphanet:399096/ntbt", source="Orphanet:399096"} @@ -302423,13 +302476,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:401979"} subset: orphanet_rare {source="Orphanet:401979"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive spondylometaphyseal dysplasia, Mégarbané type" RELATED [Orphanet:401979] -synonym: "chondrodysplasia, Megarbane-Dagher-Melki type" RELATED [OMIM:613320] +synonym: "autosomal recessive spondylometaphyseal dysplasia, Mégarbané type" RELATED [] +synonym: "chondrodysplasia, Megarbane-Dagher-Melki type" RELATED [] synonym: "PAM16 spondylodysplastic dysplasia" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "SMDMDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613320] +synonym: "SMDMDM" RELATED ABBREVIATION [MONDO:Lexical] synonym: "spondylodysplastic dysplasia caused by mutation in PAM16" EXACT [] -synonym: "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type" EXACT [OMIM:613320, OMIM:genemap2] -synonym: "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type" RELATED [MONDO:Lexical, OMIM:613320] +synonym: "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type" EXACT [] +synonym: "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type" RELATED [MONDO:Lexical] xref: DOID:0112304 {source="MONDO:equivalentTo"} xref: GARD:17667 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:401979", source="Orphanet:401979/attributed", source="Orphanet:401979/ntbt"} @@ -302457,10 +302510,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "familial rhabdoid tumor caused by mutation in SMARCA4" EXACT [MONDO:design_pattern] synonym: "familial rhabdoid tumour caused by mutation in SMARCA4" EXACT OMO:0003005 [] -synonym: "rhabdoid tumor predisposition syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613325] -synonym: "rhabdoid tumor predisposition syndrome type 2" EXACT [MONDORULE:1, OMIM:613325] +synonym: "rhabdoid tumor predisposition syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C178394, OMIM:613325] +synonym: "rhabdoid tumor predisposition syndrome type 2" EXACT [MONDORULE:1] synonym: "rhabdoid tumour predisposition syndrome type 2" EXACT OMO:0003005 [] -synonym: "RTPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613325] +synonym: "RTPS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SMARCA4 familial rhabdoid tumor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SMARCA4 familial rhabdoid tumour" EXACT OMO:0003005 [] xref: GARD:18319 {source="MONDO:GARD"} @@ -302487,21 +302540,21 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy" EXACT [DOID:0111138] -synonym: "Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy" RELATED [OMIM:613327] -synonym: "Brunzell syndrome AGPAT2-related" RELATED EXCLUDE [DOID:0111138] -synonym: "BSCL4" EXACT ABBREVIATION [DOID:0111138] +synonym: "Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy" RELATED [] +synonym: "Brunzell syndrome AGPAT2-related" RELATED EXCLUDE [] +synonym: "BSCL4" EXACT ABBREVIATION [] synonym: "CAVIN1 congenital generalised lipodystrophy (disease)" EXACT OMO:0003005 [] synonym: "CAVIN1 congenital generalized lipodystrophy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "CGL4" EXACT ABBREVIATION [DOID:0111138, MONDO:Lexical, OMIM:613327] +synonym: "CGL4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613327] synonym: "congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1" EXACT OMO:0003005 [] synonym: "congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1" EXACT [] -synonym: "GCL4" EXACT ABBREVIATION [DOID:0111138, Orphanet:228429] -synonym: "generalised congenital lipodystrophy type 4" EXACT OMO:0003005 [] -synonym: "generalised congenital lipodystrophy with myopathy" EXACT OMO:0003005 [] -synonym: "generalized congenital lipodystrophy type 4" EXACT [DOID:0111138, Orphanet:228429] +synonym: "GCL4" EXACT ABBREVIATION [] +synonym: "generalised congenital lipodystrophy type 4" EXACT OMO:0003005 [DOID:0111138] +synonym: "generalised congenital lipodystrophy with myopathy" EXACT OMO:0003005 [DOID:0111138] +synonym: "generalized congenital lipodystrophy type 4" EXACT [DOID:0111138] synonym: "generalized congenital lipodystrophy with myopathy" EXACT [DOID:0111138] -synonym: "lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy" RELATED [OMIM:613327] -synonym: "lipodystrophy, congenital generalized, type 4" RELATED [MONDO:Lexical, OMIM:613327] +synonym: "lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy" RELATED [] +synonym: "lipodystrophy, congenital generalized, type 4" RELATED [MONDO:Lexical] xref: DOID:0111138 {source="MONDO:equivalentTo"} xref: GARD:10937 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="DOID:0111138", source="Orphanet:228429/attributed", source="Orphanet:228429/ntbt", source="Orphanet:228429"} @@ -302531,10 +302584,10 @@ subset: ordo_disorder {source="Orphanet:221139"} subset: orphanet_rare {source="Orphanet:221139"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay" RELATED [OMIM:613328] -synonym: "ROIFMAN-Chitayat syndrome" RELATED [OMIM:613328] -synonym: "Roifman-Chitayat syndrome" EXACT [Orphanet:221139] -synonym: "Roifman-Chitayat syndrome, digenic" EXACT [OMIM:613328, OMIM:genemap2] +synonym: "combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay" RELATED [] +synonym: "ROIFMAN-Chitayat syndrome" RELATED [] +synonym: "Roifman-Chitayat syndrome" EXACT [OMIM:613328, Orphanet:221139] +synonym: "Roifman-Chitayat syndrome, digenic" EXACT [] xref: GARD:17139 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:221139", source="Orphanet:221139/attributed", source="Orphanet:221139/ntbt"} xref: MEDGEN:442377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -302563,10 +302616,10 @@ subset: orphanet_rare {source="Orphanet:465"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital PAI-1 deficiency" EXACT [Orphanet:465] -synonym: "congenital plasminogen activator inhibitor type 1 deficiency" EXACT CLINGEN_LABEL [] -synonym: "hyperfibrinolysis due to Pai1 deficiency" RELATED [OMIM:613329] +synonym: "congenital plasminogen activator inhibitor type 1 deficiency" EXACT CLINGEN_LABEL [icd11.foundation:428643962, Orphanet:465] +synonym: "hyperfibrinolysis due to Pai1 deficiency" RELATED [] synonym: "plasminogen activator inhibitor type 1 deficiency" RELATED [GARD:0004381] -synonym: "plasminogen activator INHIBITOR-1 deficiency" RELATED [OMIM:613329] +synonym: "plasminogen activator INHIBITOR-1 deficiency" RELATED [] xref: GARD:4381 {source="MONDO:GARD"} xref: ICD10CM:D68.8 {source="Orphanet:465/attributed", source="Orphanet:465/ntbt", source="Orphanet:465"} xref: icd11.foundation:428643962 {source="MONDO:equivalentTo", source="Orphanet:465"} @@ -302595,8 +302648,8 @@ subset: ordo_disorder {source="Orphanet:228387"} subset: orphanet_rare {source="Orphanet:228387"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SMMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613330] -synonym: "spondylo-megaepiphyseal-metaphyseal dysplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613330] +synonym: "SMMD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spondylo-megaepiphyseal-metaphyseal dysplasia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613330, Orphanet:228387] xref: GARD:17154 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:228387/attributed", source="Orphanet:228387/ntbt", source="Orphanet:228387"} xref: MEDGEN:412869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -302617,10 +302670,10 @@ subset: gard_rare {source="GARD:17028", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:166412"} subset: orphanet_rare {source="Orphanet:166412"} subset: rare -synonym: "bathing epilepsy" RELATED [OMIM:613339] +synonym: "bathing epilepsy" RELATED [] synonym: "epilepsy, hot water" EXACT [MONDO:0000028] -synonym: "hot water epilepsy" EXACT [OMIMPS:613339] -synonym: "water immersion epilepsy" RELATED [OMIM:613339] +synonym: "hot water epilepsy" EXACT [DOID:0081104, OMIMPS:613339] +synonym: "water immersion epilepsy" RELATED [] xref: DOID:0081104 {source="MONDO:equivalentTo"} xref: GARD:17028 {source="MONDO:GARD"} xref: ICD10CM:G40.8 {source="Orphanet:166412", source="Orphanet:166412/ntbt"} @@ -302639,7 +302692,7 @@ name: epilepsy, hot water, 2 subset: gard_rare {source="GARD:18287", source="MONDO:GARD"} subset: rare synonym: "epilepsy, hot water, 2" EXACT [MONDO:Lexical, OMIM:613340] -synonym: "HWE2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613340] +synonym: "HWE2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081107 {source="MONDO:equivalentTo"} xref: GARD:18287 {source="MONDO:GARD"} xref: MEDGEN:461886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -302656,14 +302709,14 @@ subset: gard_rare {source="GARD:10883", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "LCA14" EXACT ABBREVIATION [DOID:0110188, MONDO:Lexical, OMIM:613341] -synonym: "Leber congenital amaurosis 14" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613341] +synonym: "Leber congenital amaurosis 14" EXACT CLINGEN_LABEL [DOID:0110188, MONDO:Lexical, OMIM:613341] synonym: "Leber congenital amaurosis caused by mutation in LRAT" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 14" EXACT [DOID:0110188, MONDORULE:2, OMIM:613341] +synonym: "Leber congenital amaurosis type 14" EXACT [MONDORULE:2] synonym: "LRAT Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinal dystrophy, early-onset severe" EXACT [OMIM:613341, OMIM:genemap2] -synonym: "retinal dystrophy, early-onset Severe, LRAT-related" RELATED [OMIM:613341] -synonym: "retinitis pigmentosa, juvenile" RELATED [OMIM:613341, OMIM:genemap2] -synonym: "retinitis pigmentosa, juvenile, LRAT-related" RELATED [OMIM:613341] +synonym: "retinal dystrophy, early-onset severe" EXACT [] +synonym: "retinal dystrophy, early-onset Severe, LRAT-related" RELATED [] +synonym: "retinitis pigmentosa, juvenile" RELATED [] +synonym: "retinitis pigmentosa, juvenile, LRAT-related" RELATED [] xref: DOID:0110188 {source="MONDO:equivalentTo"} xref: GARD:10883 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110188"} @@ -302692,8 +302745,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "brachydactylous dwarfism Mseleni type" RELATED [GARD:0000960] synonym: "brachydactylous dwarfs of Mseleni" RELATED [GARD:0000960] -synonym: "Mseleni JOINT disease" RELATED [OMIM:613342] -synonym: "Mseleni joint disease" EXACT [Orphanet:2619] +synonym: "Mseleni JOINT disease" RELATED [] +synonym: "Mseleni joint disease" EXACT [OMIM:613342, Orphanet:2619] xref: GARD:960 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:2619/attributed", source="Orphanet:2619/ntbt", source="Orphanet:2619"} xref: icd11.foundation:419953164 {source="MONDO:equivalentTo"} @@ -302715,9 +302768,9 @@ subset: ordo_disorder {source="Orphanet:99642"} subset: orphanet_rare {source="Orphanet:99642"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Handigodu JOINT disease" RELATED [OMIM:613343] -synonym: "Hjd" RELATED [OMIM:613343] -synonym: "spondyloepimetaphyseal dysplasia, Handigodu type" EXACT [OMIM:613343] +synonym: "Handigodu JOINT disease" RELATED [] +synonym: "Hjd" RELATED [] +synonym: "spondyloepimetaphyseal dysplasia, Handigodu type" EXACT [icd11.foundation:2048058677, OMIM:613343, Orphanet:99642] xref: GARD:10741 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:99642", source="Orphanet:99642/attributed", source="Orphanet:99642/ntbt"} xref: icd11.foundation:2048058677 {source="MONDO:equivalentTo"} @@ -302734,7 +302787,7 @@ id: MONDO:0013234 name: hypokalemic periodic paralysis, type 2 subset: gard_rare {source="GARD:15649", source="MONDO:GARD"} subset: rare -synonym: "HOKPP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613345] +synonym: "HOKPP2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hypokalemic periodic paralysis, type 2" EXACT [MONDO:Lexical, OMIM:613345] xref: GARD:15649 {source="MONDO:GARD"} xref: MEDGEN:413748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -302756,11 +302809,11 @@ subset: predisposition subset: rare synonym: "BRCA2 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial pancreatic carcinoma caused by mutation in BRCA2" EXACT [MONDO:design_pattern] -synonym: "pancreatic cancer 2" EXACT [OMIM:613347, OMIM:genemap2] +synonym: "pancreatic cancer 2" EXACT [] synonym: "pancreatic cancer, susceptibility to, 2" EXACT [OMIM:613347] -synonym: "pancreatic cancer, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613347] -synonym: "Pnca2" RELATED [OMIM:613347] -synonym: "susceptibility to pancreatic cancer 2" RELATED [OMIM:613347] +synonym: "pancreatic cancer, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "Pnca2" RELATED [] +synonym: "susceptibility to pancreatic cancer 2" RELATED [] xref: MEDGEN:461896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613347 {source="MONDO:equivalentTo"} xref: Orphanet:1333 {source="OMIM:613347"} @@ -302781,9 +302834,9 @@ subset: rare synonym: "familial pancreatic carcinoma caused by mutation in PALB2" EXACT [MONDO:design_pattern] synonym: "PALB2 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pancreatic cancer, susceptibility to, 3" EXACT [OMIM:613348] -synonym: "pancreatic cancer, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613348] -synonym: "Pnca3" RELATED [OMIM:613348] -synonym: "susceptibility to pancreatic cancer 3" RELATED [OMIM:613348] +synonym: "pancreatic cancer, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "Pnca3" RELATED [] +synonym: "susceptibility to pancreatic cancer 3" RELATED [] xref: MEDGEN:461897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613348 {source="MONDO:equivalentTo"} xref: Orphanet:1333 {source="OMIM:613348"} @@ -302797,8 +302850,8 @@ relationship: predisposes_towards MONDO:0009831 ! malignant pancreatic neoplasm [Term] id: MONDO:0013237 name: susceptibility to mononeuropathy of the median nerve, mild -synonym: "carpal tunnel syndrome, susceptibility to" RELATED [OMIM:613353] -synonym: "MNMN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613353] +synonym: "carpal tunnel syndrome, susceptibility to" RELATED [] +synonym: "MNMN" RELATED ABBREVIATION [MONDO:Lexical] synonym: "mononeuropathy of the median nerve, mild" EXACT [MONDO:Lexical, OMIM:613353] xref: MEDGEN:461946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613353 {source="MONDO:equivalentTo"} @@ -302818,12 +302871,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:261279"} subset: orphanet_rare {source="Orphanet:261279"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "17q23.1-q23.2 microdeletion syndrome" EXACT [DOID:0060405, Orphanet:261279] -synonym: "17q23.1q23.2 microdeletion syndrome" EXACT [DOID:0060405] -synonym: "chromosome 17q23.1-q23.2 deletion syndrome" EXACT [OMIM:613355] -synonym: "chromosome 17q23.1-q23.2 deletion syndrome, isolated cases" EXACT [OMIM:613355, OMIM:genemap2] +synonym: "17q23.1-q23.2 microdeletion syndrome" EXACT [DOID:0060405] +synonym: "17q23.1q23.2 microdeletion syndrome" EXACT [DOID:0060405, Orphanet:261279] +synonym: "chromosome 17q23.1-q23.2 deletion syndrome" EXACT [DOID:0060405, OMIM:613355] +synonym: "chromosome 17q23.1-q23.2 deletion syndrome, isolated cases" EXACT [] synonym: "Del(17)(q23.1q23.2)" EXACT [Orphanet:261279] -synonym: "monosomy 17q23.1-q23.2" EXACT [Orphanet:261279] +synonym: "monosomy 17q23.1-q23.2" EXACT [] synonym: "monosomy 17q23.1q23.2" EXACT [Orphanet:261279] xref: DOID:0060405 {source="MONDO:equivalentTo"} xref: GARD:10936 {source="MONDO:GARD"} @@ -302851,9 +302904,9 @@ subset: orphanet_rare {source="Orphanet:320355"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spastic paraplegia 41" EXACT [DOID:0110793] -synonym: "autosomal dominant spastic paraplegia type 41" EXACT [DOID:0110793] -synonym: "hereditary spastic paraplegia type 41" EXACT [DOID:0110793, MONDORULE:2] -synonym: "spastic paraplegia 41, autosomal dominant" RELATED [MONDO:Lexical, OMIM:613364] +synonym: "autosomal dominant spastic paraplegia type 41" EXACT [DOID:0110793, Orphanet:320355] +synonym: "hereditary spastic paraplegia type 41" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 41, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG41" EXACT ABBREVIATION [DOID:0110793, MONDO:Lexical, OMIM:613364, Orphanet:320355] xref: DOID:0110793 {source="MONDO:equivalentTo"} xref: GARD:17471 {source="MONDO:GARD"} @@ -302876,7 +302929,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "INS maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in INS" EXACT [] -synonym: "maturity-onset diabetes of the young, type 10" RELATED [MONDO:Lexical, OMIM:613370] +synonym: "maturity-onset diabetes of the young, type 10" RELATED [MONDO:Lexical] synonym: "MODY10" EXACT ABBREVIATION [DOID:0111108, MONDO:Lexical, OMIM:613370] xref: DOID:0111108 {source="MONDO:equivalentTo"} xref: GARD:15652 {source="MONDO:GARD"} @@ -302900,8 +302953,8 @@ subset: orphanet_rare {source="Orphanet:211017"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA30" EXACT ABBREVIATION [GARD:0004950, MONDO:Lexical, OMIM:613371, Orphanet:211017] -synonym: "spinocerebellar ataxia 30" RELATED [MONDO:Lexical, OMIM:613371] -synonym: "spinocerebellar ataxia type 30" EXACT [GARD:0004950] +synonym: "spinocerebellar ataxia 30" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 30" EXACT [DOID:0050979, GARD:0004950, icd11.foundation:716324960, Orphanet:211017] xref: DOID:0050979 {source="MONDO:equivalentTo"} xref: GARD:4950 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:211017", source="Orphanet:211017/attributed", source="Orphanet:211017/ntbt"} @@ -302924,7 +302977,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BLK maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in BLK" EXACT [] -synonym: "maturity-onset diabetes of the young, type 11" RELATED [MONDO:Lexical, OMIM:613375] +synonym: "maturity-onset diabetes of the young, type 11" RELATED [MONDO:Lexical] synonym: "MODY11" EXACT ABBREVIATION [DOID:0111109, MONDO:Lexical, OMIM:613375] xref: DOID:0111109 {source="MONDO:equivalentTo"} xref: GARD:15653 {source="MONDO:GARD"} @@ -302945,12 +302998,12 @@ def: "Any neuronopathy, distal hereditary motor in which the cause of the diseas subset: gard_rare {source="GARD:18264", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HMN 2C" RELATED [OMIM:613376] -synonym: "HMN2C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613376] +synonym: "HMN 2C" RELATED [] +synonym: "HMN2C" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HSPB3 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB3" EXACT [MONDO:design_pattern] -synonym: "neuronopathy, distal hereditary motor, type IIC" RELATED [MONDO:Lexical, OMIM:613376] -synonym: "neuropathy, distal hereditary motor, type 2C" RELATED [OMIM:613376] +synonym: "neuronopathy, distal hereditary motor, type IIC" RELATED [MONDO:Lexical] +synonym: "neuropathy, distal hereditary motor, type 2C" RELATED [] xref: DOID:0111209 {source="MONDO:equivalentTo"} xref: GARD:18264 {source="MONDO:GARD"} xref: MEDGEN:461969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -302972,8 +303025,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BDE2" EXACT ABBREVIATION [DOID:0110976, MONDO:Lexical, OMIM:613382] synonym: "brachydactyly type E caused by mutation in PTHLH" EXACT [MONDO:design_pattern] -synonym: "brachydactyly type E2" EXACT CLINGEN_LABEL [] -synonym: "brachydactyly, type E2" RELATED [MONDO:Lexical, OMIM:613382] +synonym: "brachydactyly type E2" EXACT CLINGEN_LABEL [DOID:0110976] +synonym: "brachydactyly, type E2" RELATED [MONDO:Lexical] synonym: "PTHLH brachydactyly type E" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110976 {source="MONDO:equivalentTo"} xref: GARD:15654 {source="MONDO:GARD"} @@ -302996,12 +303049,12 @@ subset: ordo_disorder {source="Orphanet:228426"} subset: orphanet_rare {source="Orphanet:228426"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADMFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613385] -synonym: "autoimmune disease, multisystem, with facial dysmorphism" RELATED [MONDO:Lexical, OMIM:613385] +synonym: "ADMFD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "autoimmune disease, multisystem, with facial dysmorphism" RELATED [MONDO:Lexical] synonym: "autoimmune disease, syndromic multisystem" RELATED [GARD:0010775] synonym: "ITCH E3 ubiquitin ligase deficiency" RELATED [GARD:0010775] synonym: "syndromic multisystem autoimmune disease" RELATED [GARD:0010775] -synonym: "syndromic multisystem autoimmune disease due to ITCH deficiency" EXACT CLINGEN_LABEL [] +synonym: "syndromic multisystem autoimmune disease due to ITCH deficiency" EXACT CLINGEN_LABEL [icd11.foundation:1970749000, Orphanet:228426] xref: GARD:10775 {source="MONDO:GARD"} xref: icd11.foundation:1970749000 {source="MONDO:equivalentTo"} xref: MEDGEN:461999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -303023,8 +303076,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10775/itch-e id: MONDO:0013246 name: fatty liver disease, nonalcoholic, susceptibility to, 2 subset: predisposition -synonym: "fatty liver disease, nonalcoholic, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:613387] -synonym: "NAFLD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613387] +synonym: "fatty liver disease, nonalcoholic, susceptibility to, 2" EXACT [MONDO:Lexical] +synonym: "NAFLD2" EXACT ABBREVIATION [MONDO:Lexical] xref: MEDGEN:462001 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613387 {source="MONDO:equivalentTo"} xref: Orphanet:33271 {source="OMIM:613387"} @@ -303041,10 +303094,10 @@ def: "Any Fanconi syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:15655", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Fanconi renotubular syndrome 2" EXACT [MONDO:Lexical, OMIM:613388] -synonym: "Fanconi renotubular syndrome type 2" EXACT [MONDORULE:1, OMIM:613388] +synonym: "Fanconi renotubular syndrome 2" EXACT [DOID:0080758, MONDO:Lexical, OMIM:613388] +synonym: "Fanconi renotubular syndrome type 2" EXACT [MONDORULE:1] synonym: "Fanconi syndrome caused by mutation in SLC34A1" EXACT [MONDO:design_pattern] -synonym: "FRTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613388] +synonym: "FRTS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SLC34A1 Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080758 {source="MONDO:equivalentTo"} xref: GARD:15655 {source="MONDO:GARD"} @@ -303071,9 +303124,9 @@ synonym: "Fanconi anaemia caused by mutation in Rad51C" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type O" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in RAD51C" EXACT [] synonym: "Fanconi anemia caused by mutation in Rad51C" EXACT [MONDO:design_pattern] -synonym: "Fanconi anemia complementation group type O" EXACT [DOID:0111096, MONDORULE:1] -synonym: "Fanconi anemia, complementation group O" RELATED [MONDO:Lexical, OMIM:613390] -synonym: "Fanconi Anemia, complementation group type O" EXACT [MONDORULE:1, OMIM:613390] +synonym: "Fanconi anemia complementation group type O" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group O" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type O" EXACT [MONDORULE:1] synonym: "RAD51C Fanconi anaemia" EXACT OMO:0003005 [] synonym: "Rad51C Fanconi anaemia" EXACT OMO:0003005 [] synonym: "RAD51C Fanconi anemia" EXACT [MONDO:patterns/disease_series_by_gene] @@ -303095,18 +303148,18 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22634", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 84A" NARROW [DOID:0110529] -synonym: "autosomal recessive deafness 84A with vestibular dysfunction" NARROW [DOID:0110529] -synonym: "autosomal recessive nonsyndromic deafness 84A" NARROW [OMIM:613391] +synonym: "autosomal recessive deafness 84A" NARROW [] +synonym: "autosomal recessive deafness 84A with vestibular dysfunction" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 84A" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 84A" NARROW [DOID:0110529, MONDORULE:4] +synonym: "autosomal recessive nonsyndromic deafness type 84A" NARROW [MONDORULE:4] synonym: "autosomal recessive nonsyndromic hearing loss 84A" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 84" NARROW [OMIM:613391] -synonym: "deafness, autosomal recessive 84A" NARROW [MONDO:Lexical, OMIM:613391] -synonym: "deafness, autosomal recessive 84a" NARROW [OMIM:613391, OMIM:genemap2] -synonym: "deafness, autosomal recessive 84A, with vestibular dysfunction" NARROW [OMIM:613391] -synonym: "deafness, autosomal recessive type 84A" NARROW [MONDORULE:4, OMIM:613391] -synonym: "DFNB84A" NARROW ABBREVIATION [DOID:0110529, MONDO:Lexical, OMIM:613391] +synonym: "deafness, autosomal recessive 84" NARROW [] +synonym: "deafness, autosomal recessive 84A" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive 84a" NARROW [] +synonym: "deafness, autosomal recessive 84A, with vestibular dysfunction" NARROW [] +synonym: "deafness, autosomal recessive type 84A" NARROW [MONDORULE:4] +synonym: "DFNB84A" NARROW ABBREVIATION [MONDO:Lexical] synonym: "PTPRQ autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110529 {source="MONDO:equivalentTo"} xref: GARD:22634 {source="MONDO:GARD"} @@ -303129,11 +303182,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22635", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 85" NARROW [DOID:0110531] -synonym: "autosomal recessive nonsyndromic deafness 85" NARROW [OMIM:613392] -synonym: "autosomal recessive nonsyndromic deafness type 85" NARROW [DOID:0110531, MONDORULE:2] -synonym: "deafness, autosomal recessive 85" NARROW [MONDO:Lexical, OMIM:613392, OMIM:genemap2] -synonym: "DFNB85" NARROW ABBREVIATION [DOID:0110531, MONDO:Lexical, OMIM:613392] +synonym: "autosomal recessive deafness 85" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 85" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 85" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 85" NARROW [MONDO:Lexical] +synonym: "DFNB85" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110531 {source="MONDO:equivalentTo"} xref: GARD:22635 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110531"} @@ -303148,8 +303201,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013251 name: Birbeck granule deficiency subset: otar {source="MONDO:OTAR"} -synonym: "Birbeck granule deficiency" EXACT [OMIM:613393, OMIM:genemap2] -synonym: "Birbeck granules, absence of" RELATED [OMIM:613393] +synonym: "Birbeck granule deficiency" EXACT [OMIM:613393] +synonym: "Birbeck granules, absence of" RELATED [] xref: MEDGEN:462007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613393 {source="MONDO:equivalentTo"} xref: UMLS:C3150657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462007"} @@ -303169,8 +303222,8 @@ subset: orphanet_rare {source="Orphanet:280558"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "WABS" EXACT ABBREVIATION [DOID:0060535, MONDO:Lexical, OMIM:613398, Orphanet:280558] -synonym: "WARSAW breakage syndrome" RELATED [OMIM:613398] -synonym: "Warsaw breakage syndrome" EXACT [MONDO:Lexical, OMIM:613398] +synonym: "WARSAW breakage syndrome" RELATED [] +synonym: "Warsaw breakage syndrome" EXACT [DOID:0060535, icd11.foundation:833375162, MONDO:Lexical, NCIT:C164675, OMIM:613398, Orphanet:280558] xref: DOID:0060535 {source="MONDO:equivalentTo"} xref: GARD:13708 {source="MONDO:GARD"} xref: icd11.foundation:833375162 {source="MONDO:equivalentTo"} @@ -303192,16 +303245,16 @@ id: MONDO:0013253 name: breast-ovarian cancer, familial, susceptibility to, 3 def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "breast cancer, familial, susceptibility to, 3" RELATED [OMIM:613399] +synonym: "breast cancer, familial, susceptibility to, 3" RELATED [] synonym: "breast-ovarian cancer, familial, susceptibility to, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613399] -synonym: "breast-ovarian cancer, familial, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613399] -synonym: "BROVCA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613399] +synonym: "breast-ovarian cancer, familial, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "BROVCA3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hereditary breast ovarian cancer syndrome caused by mutation in RAD51C" EXACT [] synonym: "hereditary breast ovarian cancer syndrome caused by mutation in Rad51C" EXACT [MONDO:design_pattern] -synonym: "ovarian cancer, familial, susceptibility to, 3" RELATED [OMIM:613399] +synonym: "ovarian cancer, familial, susceptibility to, 3" RELATED [] synonym: "RAD51C hereditary breast ovarian cancer syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Rad51C hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern] -synonym: "susceptibility to familial breast-ovarian cancer 3" RELATED [OMIM:613399] +synonym: "susceptibility to familial breast-ovarian cancer 3" RELATED [] xref: MEDGEN:462009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613399 {source="MONDO:equivalentTo"} xref: Orphanet:145 {source="OMIM:613399"} @@ -303226,10 +303279,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "early infantile epileptic encephalopathy-10" RELATED [GARD:0010933] synonym: "EIEE10" RELATED ABBREVIATION [GARD:0010933] -synonym: "epileptic encephalopathy, early infantile, 10" RELATED [OMIM:613402] -synonym: "MCSZ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613402] +synonym: "epileptic encephalopathy, early infantile, 10" RELATED [] +synonym: "MCSZ" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly - seizures - developmental delay" RELATED [GARD:0010933] -synonym: "microcephaly, seizures, and developmental delay" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613402] +synonym: "microcephaly, seizures, and developmental delay" EXACT CLINGEN_LABEL [DOID:0080457, MONDO:Lexical, OMIM:613402] xref: DOID:0080457 {source="MONDO:equivalentTo"} xref: GARD:10933 {source="MONDO:GARD"} xref: MEDGEN:462017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -303251,9 +303304,9 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15658", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ARCS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613404] -synonym: "arthrogryposis, renal dysfunction, and cholestasis 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613404] -synonym: "arthrogryposis, renal dysfunction, and cholestasis type 2" EXACT [MONDORULE:1, OMIM:613404] +synonym: "ARCS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "arthrogryposis, renal dysfunction, and cholestasis 2" EXACT CLINGEN_LABEL [DOID:0111354, MONDO:Lexical, OMIM:613404] +synonym: "arthrogryposis, renal dysfunction, and cholestasis type 2" EXACT [MONDORULE:1] synonym: "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39" EXACT [MONDO:design_pattern] synonym: "VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111354 {source="MONDO:equivalentTo"} @@ -303278,14 +303331,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:94065"} subset: ordo_subtype_of_a_disorder {source="Orphanet:94065"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "15q24 microdeletion syndrome" EXACT [DOID:0060395, MONDO:0019785] +synonym: "15q24 microdeletion syndrome" EXACT [DOID:0060395, MONDO:0019785, Orphanet:94065] synonym: "15q24 recurrent microdeletion syndrome" EXACT [DECIPHER:66] -synonym: "chromosome 15q24 deletion syndrome" EXACT CLINGEN_LABEL [OMIM:613406] -synonym: "chromosome 15Q24 Duplication syndrome" RELATED [OMIM:613406] +synonym: "chromosome 15q24 deletion syndrome" EXACT CLINGEN_LABEL [DOID:0060395] +synonym: "chromosome 15Q24 Duplication syndrome" RELATED [] synonym: "Del(15)(q24)" EXACT [Orphanet:94065] synonym: "monosomy 15q24" EXACT [Orphanet:94065] -synonym: "WITKOS" RELATED ABBREVIATION [OMIM:613406] -synonym: "Witteveen-Kolk syndrome" RELATED [OMIM:613406] +synonym: "WITKOS" RELATED ABBREVIATION [] +synonym: "Witteveen-Kolk syndrome" RELATED [] xref: DECIPHER:66 {source="MONDO:equivalentTo"} xref: DOID:0060395 {source="MONDO:equivalentTo"} xref: GARD:12219 {source="MONDO:GARD"} @@ -303325,12 +303378,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013258 name: autism, susceptibility to, 16 subset: predisposition -synonym: "autism susceptibility 16" EXACT [OMIM:613410, OMIM:genemap2] -synonym: "autism with or without seizures" RELATED [OMIM:613410] +synonym: "autism susceptibility 16" EXACT [] +synonym: "autism with or without seizures" RELATED [] synonym: "autism, susceptibility to, 16" EXACT [MONDO:Lexical, OMIM:613410] -synonym: "autism, susceptibility to, type 16" EXACT [MONDORULE:2, OMIM:613410] -synonym: "AUTS16" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613410] -synonym: "susceptibility to autism 16" RELATED [OMIM:613410] +synonym: "autism, susceptibility to, type 16" EXACT [MONDORULE:2] +synonym: "AUTS16" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to autism 16" RELATED [] xref: MEDGEN:462027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613410 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:613410"} @@ -303353,10 +303406,10 @@ subset: rare synonym: "congenital stationary night blindness Oguchi type 2" EXACT [DOID:0110713] synonym: "CSNBO2" EXACT ABBREVIATION [DOID:0110713] synonym: "GRK1 Oguchi disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "night blindness, congenital stationary, Oguchi type 2" RELATED [OMIM:613411] -synonym: "Oguchi disease 2" RELATED [OMIM:613411] +synonym: "night blindness, congenital stationary, Oguchi type 2" RELATED [] +synonym: "Oguchi disease 2" RELATED [] synonym: "Oguchi disease caused by mutation in GRK1" EXACT [MONDO:design_pattern] -synonym: "Oguchi disease type 2" EXACT [MONDORULE:1, OMIM:613411] +synonym: "Oguchi disease type 2" EXACT [MONDORULE:1] xref: DOID:0110713 {source="MONDO:equivalentTo"} xref: GARD:15660 {source="MONDO:GARD"} xref: MEDGEN:462028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -303393,12 +303446,12 @@ subset: gard_rare {source="GARD:15661", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ACTC1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cardiomyopathy, dilated, 1R" RELATED [MONDO:Lexical, OMIM:613424] -synonym: "cardiomyopathy, dilated, type 1R" EXACT [MONDORULE:4, OMIM:613424] +synonym: "cardiomyopathy, dilated, 1R" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1R" EXACT [MONDORULE:4] synonym: "CMD1R" EXACT ABBREVIATION [DOID:0110456, MONDO:Lexical, OMIM:613424] -synonym: "dilated cardiomyopathy type 1R" EXACT [DOID:0110456, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1R" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in ACTC1" EXACT [MONDO:design_pattern] -synonym: "left ventricular noncompaction 4" RELATED [OMIM:613424] +synonym: "left ventricular noncompaction 4" RELATED [] xref: DOID:0110456 {source="MONDO:equivalentTo"} xref: GARD:15661 {source="MONDO:GARD"} xref: ICD10CM:I42.0 {source="DOID:0110456"} @@ -303416,13 +303469,13 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:12832", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1S" RELATED [GARD:0012832, MONDO:Lexical, OMIM:613426] -synonym: "cardiomyopathy, dilated, type 1S" EXACT [MONDORULE:4, OMIM:613426] +synonym: "cardiomyopathy, dilated, 1S" RELATED [GARD:0012832, MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1S" EXACT [MONDORULE:4] synonym: "CMD1S" EXACT ABBREVIATION [DOID:0110454, MONDO:Lexical, OMIM:613426] -synonym: "dilated cardiomyopathy type 1S" EXACT [DOID:0110454, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1S" EXACT [MONDORULE:4] synonym: "dilated cardiomyopathy-1S" RELATED [GARD:0012832] synonym: "familial isolated dilated cardiomyopathy caused by mutation in MYH7" EXACT [MONDO:design_pattern] -synonym: "left ventricular noncompaction 5" RELATED [GARD:0012832, OMIM:613426] +synonym: "left ventricular noncompaction 5" RELATED [GARD:0012832] synonym: "MYH7 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110454 {source="MONDO:equivalentTo"} xref: GARD:12832 {source="MONDO:GARD"} @@ -303444,9 +303497,9 @@ subset: gard_rare {source="GARD:15662", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PCARE retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 54" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613428] +synonym: "retinitis pigmentosa 54" EXACT CLINGEN_LABEL [DOID:0110364, MONDO:Lexical, OMIM:613428] synonym: "retinitis pigmentosa caused by mutation in PCARE" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 54" EXACT [DOID:0110364, MONDORULE:2, OMIM:613428] +synonym: "retinitis pigmentosa type 54" EXACT [MONDORULE:2] synonym: "RP54" EXACT ABBREVIATION [DOID:0110364, MONDO:Lexical, OMIM:613428] xref: DOID:0110364 {source="MONDO:equivalentTo"} xref: GARD:15662 {source="MONDO:GARD"} @@ -303471,10 +303524,10 @@ subset: gard_rare {source="GARD:15663", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ALS12" EXACT ABBREVIATION [DOID:0060203, MONDO:Lexical, OMIM:613435] -synonym: "amyotrophic lateral sclerosis 12" EXACT [DOID:0060203, MONDO:Lexical, OMIM:613435] -synonym: "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia" EXACT [OMIM:613435, OMIM:genemap2] +synonym: "amyotrophic lateral sclerosis 12" EXACT [DOID:0060203, MONDO:Lexical] +synonym: "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia" EXACT [OMIM:613435] synonym: "amyotrophic lateral sclerosis caused by mutation in OPTN" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis type 12" EXACT [MONDORULE:2, OMIM:613435] +synonym: "amyotrophic lateral sclerosis type 12" EXACT [DOID:0060203, MONDORULE:2] synonym: "OPTN amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060203 {source="MONDO:equivalentTo"} xref: GARD:15663 {source="MONDO:GARD"} @@ -303493,11 +303546,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013265 name: autism, susceptibility to, 17 subset: predisposition -synonym: "autism susceptibility 17" EXACT [OMIM:613436, OMIM:genemap2] +synonym: "autism susceptibility 17" EXACT [] synonym: "autism, susceptibility to, 17" EXACT [MONDO:Lexical, OMIM:613436] -synonym: "autism, susceptibility to, type 17" EXACT [MONDORULE:2, OMIM:613436] -synonym: "AUTS17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613436] -synonym: "susceptibility to autism 17" RELATED [OMIM:613436] +synonym: "autism, susceptibility to, type 17" EXACT [MONDORULE:2] +synonym: "AUTS17" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to autism 17" RELATED [] xref: MEDGEN:462043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613436 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:613436"} @@ -303518,21 +303571,21 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:2013"} subset: ordo_disorder {source="Orphanet:664410"} subset: orphanet_rare {source="Orphanet:664410"} subset: rare -synonym: "autosomal dominant intellectual disability 20" RELATED [DOID:0070050] -synonym: "autosomal dominant mental retardation 20" RELATED DEPRECATED [DOID:0070050] +synonym: "autosomal dominant intellectual disability 20" RELATED [] +synonym: "autosomal dominant mental retardation 20" RELATED DEPRECATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C" EXACT [MONDO:design_pattern] -synonym: "chromosome 5q14.3 deletion syndrome" EXACT [OMIM:613443, OMIM:genemap2] -synonym: "chromosome 5Q14.3 deletion syndrome, proximal" RELATED [OMIM:613443] -synonym: "intellectual disability, autosomal dominant 20" EXACT CLINGEN_LABEL [DOID:0070050, MONDO:Lexical, OMIM:613443] -synonym: "intellectual disability, autosomal dominant type 20" EXACT [MONDORULE:2, OMIM:613443] -synonym: "intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations" RELATED [OMIM:613443] +synonym: "chromosome 5q14.3 deletion syndrome" EXACT [] +synonym: "chromosome 5Q14.3 deletion syndrome, proximal" RELATED [] +synonym: "intellectual disability, autosomal dominant 20" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 20" EXACT [MONDORULE:2] +synonym: "intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations" RELATED [] synonym: "MEF2C autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MEF2C Deficiency" EXACT [NORD:2013] -synonym: "mental retardation, autosomal dominant 20" EXACT DEPRECATED [DOID:0070050, MONDO:Lexical, OMIM:613443] -synonym: "mental retardation, autosomal dominant type 20" EXACT DEPRECATED [MONDORULE:2, OMIM:613443] -synonym: "mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations" RELATED DEPRECATED [OMIM:613443] -synonym: "MRD20" EXACT ABBREVIATION [DOID:0070050, MONDO:Lexical, OMIM:613443] -synonym: "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language" EXACT [OMIM:613443, OMIM:genemap2] +synonym: "mental retardation, autosomal dominant 20" EXACT DEPRECATED [DOID:0070050, MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 20" EXACT DEPRECATED [MONDORULE:2] +synonym: "mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations" RELATED DEPRECATED [] +synonym: "MRD20" EXACT ABBREVIATION [DOID:0070050, MONDO:Lexical] +synonym: "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language" EXACT [DOID:0070050, OMIM:613443] xref: DOID:0070050 {source="MONDO:equivalentTo"} xref: MEDGEN:462050 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NORD:2013 {source="MONDO:NORD"} @@ -303558,15 +303611,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:261222"} subset: orphanet_rare {source="Orphanet:261222"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "body mass index QTL16" EXACT [OMIM:613444, OMIM:genemap2] -synonym: "body Mass index quantitative trait locus 16" RELATED [OMIM:613444] -synonym: "chromosome 16p11.2 deletion syndrome, 220-KB" RELATED [OMIM:613444] -synonym: "chromosome 16p11.2 deletion syndrome, 220kb" RELATED [DOID:0060398] -synonym: "chromosome 16p11.2 deletion syndrome, type 220kb" EXACT [DOID:0060398, MONDORULE:9] -synonym: "distal 16p11.2 microdeletion syndrome" EXACT [DOID:0060398] +synonym: "body mass index QTL16" EXACT [] +synonym: "body Mass index quantitative trait locus 16" RELATED [] +synonym: "chromosome 16p11.2 deletion syndrome, 220-KB" RELATED [] +synonym: "chromosome 16p11.2 deletion syndrome, 220kb" RELATED [] +synonym: "chromosome 16p11.2 deletion syndrome, type 220kb" EXACT [MONDORULE:9] +synonym: "distal 16p11.2 microdeletion syndrome" EXACT [DOID:0060398, Orphanet:261222] synonym: "distal del(16)(p11.2)" EXACT [Orphanet:261222] synonym: "distal monosomy 16p11.2" EXACT [Orphanet:261222] -synonym: "obesity, susceptibility to" RELATED [OMIM:613444] +synonym: "obesity, susceptibility to" RELATED [] xref: DOID:0060398 {source="MONDO:equivalentTo"} xref: GARD:17244 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="DOID:0060398", source="Orphanet:261222", source="Orphanet:261222/attributed", source="Orphanet:261222/ntbt"} @@ -303595,9 +303648,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ALX4-related FNDAG" EXACT [Orphanet:228390] synonym: "craniofrontonasal dysplasia with alopecia and hypogonadism" EXACT [Orphanet:228390] -synonym: "FND2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613451] -synonym: "frontonasal dysplasia 2" RELATED [MONDO:Lexical, OMIM:613451] -synonym: "frontonasal dysplasia type 2" EXACT [MONDORULE:1, OMIM:613451] +synonym: "FND2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "frontonasal dysplasia 2" RELATED [MONDO:Lexical] +synonym: "frontonasal dysplasia type 2" EXACT [MONDORULE:1, Orphanet:228390] synonym: "frontonasal dysplasia with alopecia and genital abnomality" EXACT [Orphanet:228390] xref: DOID:0081046 {source="MONDO:equivalentTo"} xref: GARD:12641 {source="MONDO:GARD"} @@ -303621,14 +303674,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22636", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 91" NARROW [DOID:0110536] -synonym: "autosomal recessive nonsyndromic deafness 91" NARROW [OMIM:613453] +synonym: "autosomal recessive deafness 91" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 91" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 91" NARROW [DOID:0110536, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 91" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 91" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 91" NARROW [MONDO:Lexical, OMIM:613453, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 91" NARROW [MONDORULE:2, OMIM:613453] -synonym: "DFNB91" NARROW ABBREVIATION [DOID:0110536, MONDO:Lexical, OMIM:613453] +synonym: "deafness, autosomal recessive 91" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 91" NARROW [MONDORULE:2] +synonym: "DFNB91" NARROW ABBREVIATION [MONDO:Lexical] synonym: "SERPINB6 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110536 {source="MONDO:equivalentTo"} xref: GARD:22636 {source="MONDO:GARD"} @@ -303651,7 +303704,7 @@ subset: gard_rare {source="GARD:15664", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: rare -synonym: "Rett syndrome, congenital variant" EXACT [OMIM:613454] +synonym: "Rett syndrome, congenital variant" EXACT [NCIT:C176903, OMIM:613454] xref: GARD:15664 {source="MONDO:GARD"} xref: MEDGEN:462055 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C176903 {source="MONDO:equivalentTo"} @@ -303677,9 +303730,9 @@ subset: orphanet_rare {source="Orphanet:306542"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ALX1-related frontonasal dysplasia" EXACT [Orphanet:306542] -synonym: "FND3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613456] -synonym: "frontonasal dysplasia 3" RELATED [GARD:0012640, MONDO:Lexical, OMIM:613456] -synonym: "frontonasal dysplasia type 3" EXACT [MONDORULE:1, OMIM:613456] +synonym: "FND3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "frontonasal dysplasia 3" RELATED [GARD:0012640, MONDO:Lexical] +synonym: "frontonasal dysplasia type 3" EXACT [MONDORULE:1, Orphanet:306542] xref: DOID:0081047 {source="MONDO:equivalentTo"} xref: GARD:12640 {source="MONDO:GARD"} xref: MEDGEN:462056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -303703,9 +303756,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:261120"} subset: orphanet_rare {source="Orphanet:261120"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "14q11.2 microdeletion syndrome" EXACT [DOID:0060392] -synonym: "chromosome 14q11-q22 deletion syndrome" EXACT [OMIM:613457] -synonym: "chromosome 14q11-q22 deletion syndrome, isolated cases" EXACT [OMIM:613457, OMIM:genemap2] +synonym: "14q11.2 microdeletion syndrome" EXACT [DOID:0060392, Orphanet:261120] +synonym: "chromosome 14q11-q22 deletion syndrome" EXACT [DOID:0060392, OMIM:613457] +synonym: "chromosome 14q11-q22 deletion syndrome, isolated cases" EXACT [] synonym: "Del(14)(q11.2)" EXACT [Orphanet:261120] synonym: "monosomy 14q11.2" EXACT [Orphanet:261120] xref: DOID:0060392 {source="MONDO:equivalentTo"} @@ -303736,10 +303789,10 @@ subset: orphanet_rare {source="Orphanet:96078"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "16p13.3 duplication" RELATED [GARD:0010755] -synonym: "16p13.3 microduplication syndrome" EXACT [DOID:0060431] +synonym: "16p13.3 microduplication syndrome" EXACT [DOID:0060431, Orphanet:96078] synonym: "chromosome 16p13.3 duplication" RELATED [GARD:0010755] -synonym: "chromosome 16p13.3 duplication syndrome" EXACT [OMIM:613458] -synonym: "chromosome 16p13.3 duplication syndrome, isolated cases" EXACT [OMIM:613458, OMIM:genemap2] +synonym: "chromosome 16p13.3 duplication syndrome" EXACT [DOID:0060431, OMIM:613458] +synonym: "chromosome 16p13.3 duplication syndrome, isolated cases" EXACT [] synonym: "distal duplication 16p" EXACT [DOID:0060431, Orphanet:96078] synonym: "distal trisomy 16p" EXACT [DOID:0060431, Orphanet:96078] synonym: "dup(16)(p13.3)" EXACT [Orphanet:96078] @@ -303768,9 +303821,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:15665", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 51" EXACT [MONDO:Lexical, OMIM:613464] +synonym: "retinitis pigmentosa 51" EXACT [DOID:0110398, MONDO:Lexical, OMIM:613464] synonym: "retinitis pigmentosa caused by mutation in TTC8" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 51" EXACT [DOID:0110398, MONDORULE:2, OMIM:613464] +synonym: "retinitis pigmentosa type 51" EXACT [MONDORULE:2] synonym: "RP51" EXACT ABBREVIATION [DOID:0110398, MONDO:Lexical, OMIM:613464] synonym: "TTC8 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110398 {source="MONDO:equivalentTo"} @@ -303794,7 +303847,7 @@ subset: orphanet_rare {source="Orphanet:712"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glucosephosphate isomerase deficiency" EXACT [GARD:0002502] -synonym: "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" RELATED [OMIM:613470] +synonym: "hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" RELATED [] xref: GARD:16541 {source="MONDO:GARD"} xref: ICD10CM:D55.2 {source="Orphanet:712/attributed", source="Orphanet:712/ntbt", source="Orphanet:712"} xref: MEDGEN:462080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -303819,8 +303872,8 @@ subset: orphanet_rare {source="Orphanet:779"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "primary biliary cirrhosis and systemic scleroderma" EXACT [Orphanet:779] -synonym: "primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia" RELATED [OMIM:613471] -synonym: "Reynolds syndrome" EXACT [OMIM:613471] +synonym: "primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia" RELATED [] +synonym: "Reynolds syndrome" EXACT [icd11.foundation:1409844299, OMIM:613471, Orphanet:779] xref: GARD:4697 {source="MONDO:GARD"} xref: ICD10CM:K74.3 {source="Orphanet:779", source="Orphanet:779/nd"} xref: ICD10CM:L94.0 {source="Orphanet:779", source="Orphanet:779/nd"} @@ -303843,12 +303896,12 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:12949", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE5" EXACT ABBREVIATION [OMIM:613477] -synonym: "developmental and epileptic encephalopathy 5" EXACT [OMIM:613477, OMIM:genemap2] +synonym: "DEE5" EXACT ABBREVIATION [DOID:0080438, OMIM:613477] +synonym: "developmental and epileptic encephalopathy 5" EXACT [DOID:0080438, OMIM:613477] synonym: "early infantile epileptic encephalopathy caused by mutation in SPTAN1" EXACT [MONDO:design_pattern] -synonym: "EIEE5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613477] +synonym: "EIEE5" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 5" EXACT [MONDO:Lexical, OMIM:613477] -synonym: "epileptic encephalopathy, early infantile, type 5" EXACT [MONDORULE:1, OMIM:613477] +synonym: "epileptic encephalopathy, early infantile, type 5" EXACT [MONDORULE:1] synonym: "SPTAN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080438 {source="MONDO:equivalentTo"} xref: GARD:12949 {source="MONDO:GARD"} @@ -303872,10 +303925,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GJC2 hereditary lymphedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary lymphedema caused by mutation in GJC2" EXACT [MONDO:design_pattern] -synonym: "LMPH1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613480] -synonym: "lymphedema, hereditary, 1C" EXACT [OMIM:613480] -synonym: "lymphedema, hereditary, IC" RELATED [MONDO:Lexical, OMIM:613480] -synonym: "lymphedema, hereditary, type 1C" EXACT [MONDORULE:4, OMIM:613480] +synonym: "LMPH1C" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lymphedema, hereditary, 1C" EXACT [] +synonym: "lymphedema, hereditary, IC" RELATED [MONDO:Lexical] +synonym: "lymphedema, hereditary, type 1C" EXACT [MONDORULE:4] xref: DOID:0070208 {source="MONDO:equivalentTo"} xref: GARD:16456 {source="MONDO:GARD"} xref: MEDGEN:1652857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -303896,9 +303949,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "KCNJ5 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "long QT syndrome 13" EXACT [MONDO:Lexical, OMIM:613485] +synonym: "long QT syndrome 13" EXACT [DOID:0110654, MONDO:Lexical, OMIM:613485] synonym: "long QT syndrome caused by mutation in KCNJ5" EXACT [MONDO:design_pattern] -synonym: "long QT syndrome type 13" EXACT [DOID:0110654, MONDORULE:2, OMIM:613485] +synonym: "long QT syndrome type 13" EXACT [MONDORULE:2] synonym: "LQT13" EXACT ABBREVIATION [DOID:0110654, MONDO:Lexical, OMIM:613485] xref: DOID:0110654 {source="MONDO:equivalentTo"} xref: GARD:15666 {source="MONDO:GARD"} @@ -303922,10 +303975,10 @@ subset: gard_rare {source="GARD:15667", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mixed-type liposarcoma" RELATED [DOID:5709] -synonym: "myxoid liposarcoma" EXACT [DOID:5363, NCIT:C27781, NCIT:C3735, OMIM:613488] -synonym: "myxoid liposarcoma (morphologic abnormality)" EXACT [DOID:5363] -synonym: "myxoid/round cell liposarcoma" BROAD [NCIT:C27781] +synonym: "mixed-type liposarcoma" RELATED [] +synonym: "myxoid liposarcoma" EXACT [DOID:5363, NCIT:C27781, OMIM:613488] +synonym: "myxoid liposarcoma (morphologic abnormality)" EXACT [] +synonym: "myxoid/round cell liposarcoma" BROAD [] synonym: "Myxoliposarcoma" RELATED [GARD:0007157] xref: DOID:5363 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:0000613"} xref: DOID:5709 {source="MONDO:equivalentTo"} @@ -303958,17 +304011,17 @@ subset: ordo_disorder {source="Orphanet:263501"} subset: orphanet_rare {source="Orphanet:263501"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carbohydrate deficient glycoprotein syndrome type IIj" EXACT [Orphanet:263501] -synonym: "CDG IIj" RELATED [OMIM:613489] -synonym: "CDG syndrome type IIj" EXACT [Orphanet:263501] +synonym: "carbohydrate deficient glycoprotein syndrome type IIj" EXACT [DOID:0070262, Orphanet:263501] +synonym: "CDG IIj" RELATED [] +synonym: "CDG syndrome type IIj" EXACT [DOID:0070262, Orphanet:263501] synonym: "CDG-IIj" EXACT [Orphanet:263501] -synonym: "CDG2J" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613489, Orphanet:263501] -synonym: "COG4-CDG" EXACT ABBREVIATION [Orphanet:263501] +synonym: "CDG2J" EXACT ABBREVIATION [DOID:0070262, MONDO:Lexical, OMIM:613489, Orphanet:263501] +synonym: "COG4-CDG" EXACT ABBREVIATION [DOID:0070262, Orphanet:263501] synonym: "COG4-CDG (CDG-IIj)" RELATED [GARD:0012412] synonym: "COG4-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] -synonym: "congenital disorder of glycosylation type 2j" EXACT [Orphanet:263501] -synonym: "congenital disorder of glycosylation type IIj" EXACT [Orphanet:263501] -synonym: "congenital disorder of glycosylation, type IIj" RELATED [MONDO:Lexical, OMIM:613489] +synonym: "congenital disorder of glycosylation type 2j" EXACT [DOID:0070262, Orphanet:263501] +synonym: "congenital disorder of glycosylation type IIj" EXACT [DOID:0070262, Orphanet:263501] +synonym: "congenital disorder of glycosylation, type IIj" RELATED [MONDO:Lexical] xref: DOID:0070262 {source="MONDO:equivalentTo"} xref: GARD:12412 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:263501", source="Orphanet:263501/attributed", source="Orphanet:263501/ntbt"} @@ -303995,22 +304048,22 @@ subset: ordo_disorder {source="Orphanet:60"} subset: orphanet_rare {source="Orphanet:60"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "A-1ATD" EXACT [NCIT:C84397] +synonym: "A-1ATD" EXACT ABBREVIATION [NCIT:C84397] synonym: "A1AD" EXACT ABBREVIATION [NCIT:C84397] synonym: "A1AT deficiency" RELATED [GARD:0005784] -synonym: "A1ATD" RELATED ABBREVIATION [OMIM:613490] -synonym: "AAT deficiency" EXACT [DOID:13372] +synonym: "A1ATD" RELATED ABBREVIATION [] +synonym: "AAT deficiency" EXACT [DOID:13372, ICD10CM:E88.01] synonym: "AATD" RELATED ABBREVIATION [GARD:0005784] synonym: "Alpha 1 antitrypsin deficiency" RELATED [GARD:0005784] -synonym: "alpha 1-antitrypsin deficiency" EXACT CLINGEN_LABEL [] -synonym: "Alpha-1 Antitrypsin Deficiency" EXACT [NORD:754] +synonym: "alpha 1-antitrypsin deficiency" EXACT CLINGEN_LABEL [DOID:13372] +synonym: "Alpha-1 Antitrypsin Deficiency" EXACT [NCIT:C84397, NORD:754] synonym: "Alpha-1 antitrypsin deficiency" RELATED [GARD:0005784] -synonym: "ALPHA-1-antitrypsin deficiency" RELATED [OMIM:613490] -synonym: "alpha-1-antitrypsin deficiency" RELATED [OMIM:613490] -synonym: "deficiency in Alpa-1-proteinase inhibitor" EXACT [Orphanet:60] -synonym: "emphysema due to AAT deficiency" EXACT [OMIM:613490, OMIM:genemap2] -synonym: "emphysema-cirrhosis, due to AAT deficiency" EXACT [OMIM:613490, OMIM:genemap2] -synonym: "hemorrhagic diathesis due to antithrombin pittsburgh" EXACT [OMIM:613490, OMIM:genemap2] +synonym: "ALPHA-1-antitrypsin deficiency" RELATED [] +synonym: "alpha-1-antitrypsin deficiency" RELATED [] +synonym: "deficiency in Alpa-1-proteinase inhibitor" EXACT [] +synonym: "emphysema due to AAT deficiency" EXACT [] +synonym: "emphysema-cirrhosis, due to AAT deficiency" EXACT [] +synonym: "hemorrhagic diathesis due to antithrombin pittsburgh" EXACT [] xref: DOID:13372 {source="MONDO:equivalentTo"} xref: GARD:5784 {source="MONDO:GARD"} xref: ICD10CM:E88.0 {source="Orphanet:60/inclusion", source="Orphanet:60/ntbt", source="Orphanet:60"} @@ -304048,10 +304101,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15668", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "antibody deficiency due to CD19 defect" RELATED [OMIM:613493] -synonym: "CVID3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613493] +synonym: "antibody deficiency due to CD19 defect" RELATED [] +synonym: "CVID3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "immunodeficiency, common variable, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613493] -synonym: "immunodeficiency, common variable, type 3" EXACT [MONDORULE:1, OMIM:613493] +synonym: "immunodeficiency, common variable, type 3" EXACT [MONDORULE:1] xref: DOID:0081146 {source="MONDO:equivalentTo"} xref: GARD:15668 {source="MONDO:GARD"} xref: MEDGEN:462088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -304070,10 +304123,10 @@ subset: gard_rare {source="GARD:15669", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "antibody deficiency due to Baffr defect" RELATED [OMIM:613494] -synonym: "CVID4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613494] +synonym: "antibody deficiency due to Baffr defect" RELATED [] +synonym: "CVID4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "immunodeficiency, common variable, 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613494] -synonym: "immunodeficiency, common variable, type 4" EXACT [MONDORULE:1, OMIM:613494] +synonym: "immunodeficiency, common variable, type 4" EXACT [MONDORULE:1] xref: DOID:0081147 {source="MONDO:equivalentTo"} xref: GARD:15669 {source="MONDO:GARD"} xref: MEDGEN:462089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -304092,11 +304145,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15670", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "antibody deficiency due to CD20 defect" RELATED [OMIM:613495] +synonym: "antibody deficiency due to CD20 defect" RELATED [] synonym: "common variable immunodeficiency caused by mutation in MS4A1" EXACT [MONDO:design_pattern] -synonym: "CVID5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613495] +synonym: "CVID5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "immunodeficiency, common variable, 5" EXACT [MONDO:Lexical, OMIM:613495] -synonym: "immunodeficiency, common variable, type 5" EXACT [MONDORULE:1, OMIM:613495] +synonym: "immunodeficiency, common variable, type 5" EXACT [MONDORULE:1] synonym: "MS4A1 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081148 {source="MONDO:equivalentTo"} xref: GARD:15670 {source="MONDO:GARD"} @@ -304119,12 +304172,12 @@ subset: gard_rare {source="GARD:15671", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "antibody deficiency due to CD81 defect" RELATED [OMIM:613496] +synonym: "antibody deficiency due to CD81 defect" RELATED [] synonym: "CD81 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "common variable immunodeficiency caused by mutation in CD81" EXACT [MONDO:design_pattern] -synonym: "CVID6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613496] +synonym: "CVID6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "immunodeficiency, common variable, 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613496] -synonym: "immunodeficiency, common variable, type 6" EXACT [MONDORULE:1, OMIM:613496] +synonym: "immunodeficiency, common variable, type 6" EXACT [MONDORULE:1] xref: DOID:0081149 {source="MONDO:equivalentTo"} xref: GARD:15671 {source="MONDO:GARD"} xref: MEDGEN:462091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -304150,7 +304203,7 @@ synonym: "agammaglobulinemia, autosomal recessive, due to IGLL1 defect" EXACT [O synonym: "AGM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613500] synonym: "autosomal agammaglobulinemia caused by mutation in IGLL1" EXACT [MONDO:design_pattern] synonym: "IGLL1 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "lambda 5 deficiency" EXACT [MONDO:0000581] +synonym: "lambda 5 deficiency" EXACT [DOID:0060024, MONDO:0000581] xref: DOID:0060024 {source="MONDO:equivalentTo"} xref: DOID:0081135 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:15672 {source="MONDO:GARD"} @@ -304176,8 +304229,8 @@ subset: gard_rare {source="GARD:15673", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "agammaglobulinemia 3, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613501] -synonym: "agammaglobulinemia, autosomal recessive, due to Cd79A defect" RELATED [OMIM:613501] -synonym: "AGM3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613501] +synonym: "agammaglobulinemia, autosomal recessive, due to Cd79A defect" RELATED [] +synonym: "AGM3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "autosomal agammaglobulinemia caused by mutation in CD79A" EXACT [MONDO:design_pattern] synonym: "CD79A autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081137 {source="MONDO:equivalentTo"} @@ -304202,12 +304255,12 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15674", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "agammaglobulinemia 4" EXACT [OMIM:613502, OMIM:genemap2] +synonym: "agammaglobulinemia 4" EXACT [DOID:0060027] synonym: "agammaglobulinemia 4, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613502] synonym: "agammaglobulinemia, autosomal recessive, due to Blnk defect" EXACT [OMIM:613502] synonym: "AGM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613502] synonym: "autosomal agammaglobulinemia caused by mutation in BLNK" EXACT [MONDO:design_pattern] -synonym: "B cell linker protein deficiency" EXACT [MONDO:0000584] +synonym: "B cell linker protein deficiency" EXACT [DOID:0060027, MONDO:0000584] synonym: "B-cell linker protein deficiency" EXACT [DOID:0060027] synonym: "BLNK autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "BLNK deficiency" EXACT [DOID:0060027] @@ -304234,10 +304287,10 @@ def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mu subset: gard_rare {source="GARD:15675", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "agammaglobulinemia 5" EXACT [OMIM:613506, OMIM:genemap2] +synonym: "agammaglobulinemia 5" EXACT [DOID:0080588] synonym: "agammaglobulinemia 5, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613506] -synonym: "agammaglobulinemia, autosomal dominant, due to Lrrc8A defect" RELATED [OMIM:613506] -synonym: "AGM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613506] +synonym: "agammaglobulinemia, autosomal dominant, due to Lrrc8A defect" RELATED [] +synonym: "AGM5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "autosomal agammaglobulinemia caused by mutation in LRRC8A" EXACT [MONDO:design_pattern] synonym: "LRRC8A autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080588 {source="MONDO:equivalentTo"} @@ -304264,21 +304317,21 @@ subset: ordo_disorder {source="Orphanet:263297"} subset: orphanet_rare {source="Orphanet:263297"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glycogen storage disease 15" RELATED [OMIM:613507] -synonym: "glycogen storage disease type 15" EXACT [MONDORULE:2, OMIM:613507, Orphanet:263297] +synonym: "glycogen storage disease 15" RELATED [] +synonym: "glycogen storage disease type 15" EXACT [MONDORULE:2, Orphanet:263297] synonym: "glycogen storage disease type XV" EXACT [DOID:0050579, MONDORULE:3, Orphanet:263297] -synonym: "glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" RELATED [Orphanet:263297] -synonym: "glycogen storage disease XV" EXACT [MONDO:Lexical, OMIM:613507] -synonym: "glycogenin deficiency" RELATED [OMIM:613507] +synonym: "glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" RELATED [] +synonym: "glycogen storage disease XV" EXACT [DOID:0050579, MONDO:Lexical] +synonym: "glycogenin deficiency" RELATED [] synonym: "glycogenosis type 15" EXACT [Orphanet:263297] synonym: "glycogenosis type XV" EXACT [Orphanet:263297] synonym: "glycogenosis with severe cardiomyopathy due to glycogenin deficiency" EXACT [Orphanet:263297] -synonym: "GSD 15" RELATED [OMIM:613507] +synonym: "GSD 15" RELATED [] synonym: "GSD type 15" EXACT [Orphanet:263297] synonym: "GSD type XV" EXACT [Orphanet:263297] synonym: "GSD with severe cardiomyopathy due to glycogenin deficiency" EXACT [Orphanet:263297] -synonym: "GSD15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613507] -synonym: "Gyg1 deficiency" RELATED [OMIM:613507] +synonym: "GSD15" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Gyg1 deficiency" RELATED [] xref: DOID:0050579 {source="MONDO:equivalentTo"} xref: GARD:17254 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:263297", source="Orphanet:263297/attributed", source="Orphanet:263297/ntbt"} @@ -304304,9 +304357,9 @@ subset: ordo_disorder {source="Orphanet:238750"} subset: ordo_malformation_syndrome {source="Orphanet:238750"} subset: orphanet_rare {source="Orphanet:238750"} subset: rare -synonym: "4q21 microdeletion syndrome" EXACT [DOID:0060420] -synonym: "chromosome 4q21 deletion syndrome" EXACT [OMIM:613509] -synonym: "chromosome 4q21 deletion syndrome, isolated cases" EXACT [OMIM:613509, OMIM:genemap2] +synonym: "4q21 microdeletion syndrome" EXACT [DOID:0060420, Orphanet:238750] +synonym: "chromosome 4q21 deletion syndrome" EXACT [DOID:0060420, OMIM:613509] +synonym: "chromosome 4q21 deletion syndrome, isolated cases" EXACT [] synonym: "Del(4)(q21)" EXACT [Orphanet:238750] synonym: "monosomy 4q21" EXACT [DOID:0060420, Orphanet:238750] xref: DOID:0060420 {source="MONDO:equivalentTo"} @@ -304332,11 +304385,11 @@ subset: gard_rare {source="GARD:18628", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "isolated microphthalmia caused by mutation in PRSS56" EXACT [MONDO:design_pattern] -synonym: "isolated microphthalmia type 6" EXACT [DOID:0060835, MONDORULE:1] +synonym: "isolated microphthalmia type 6" EXACT [MONDORULE:1] synonym: "MCOP6" EXACT ABBREVIATION [DOID:0060835, MONDO:Lexical, OMIM:613517] -synonym: "microphthalmia, isolated 6" RELATED [MONDO:Lexical, OMIM:613517] -synonym: "microphthalmia, isolated type 6" EXACT [MONDORULE:1, OMIM:613517] -synonym: "microphthalmia, posterior nonsyndromic" RELATED [OMIM:613517] +synonym: "microphthalmia, isolated 6" RELATED [MONDO:Lexical] +synonym: "microphthalmia, isolated type 6" EXACT [MONDORULE:1] +synonym: "microphthalmia, posterior nonsyndromic" RELATED [] synonym: "posterior nonsyndromic microphthalmia" EXACT [DOID:0060835] synonym: "PRSS56 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060835 {source="MONDO:equivalentTo"} @@ -304357,10 +304410,10 @@ id: MONDO:0013294 name: dermatitis, atopic, 8 def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 4q22.1." [DOID:0110104, MONDO:patterns/inherited_susceptibility, PMID:19517137] synonym: "ATOD8" EXACT ABBREVIATION [DOID:0110104, MONDO:Lexical, OMIM:613518] -synonym: "atopic dermatitis type 8" EXACT [DOID:0110104, MONDORULE:1] +synonym: "atopic dermatitis type 8" EXACT [MONDORULE:1] synonym: "dermatitis, atopic, 8" EXACT [MONDO:Lexical, OMIM:613518] -synonym: "dermatitis, atopic, severity of" RELATED [OMIM:613518] -synonym: "dermatitis, atopic, susceptibility to, 8" EXACT [OMIM:613518, OMIM:genemap2] +synonym: "dermatitis, atopic, severity of" RELATED [] +synonym: "dermatitis, atopic, susceptibility to, 8" EXACT [] xref: DOID:0110104 {source="MONDO:equivalentTo"} xref: MEDGEN:462113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613518 {source="DOID:0110104", source="MONDO:equivalentTo"} @@ -304375,10 +304428,10 @@ id: MONDO:0013295 name: dermatitis, atopic, 9 def: "An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 3p24." [DOID:0110105, MONDO:patterns/inherited_susceptibility, PMID:19517137] synonym: "ATOD9" EXACT ABBREVIATION [DOID:0110105, MONDO:Lexical, OMIM:613519] -synonym: "atopic dermatitis 9" EXACT [] -synonym: "atopic dermatitis type 9" EXACT [DOID:0110105, MONDORULE:1] -synonym: "dermatitis, ATOPIC, 9" RELATED [MONDO:Lexical, OMIM:613519] -synonym: "dermatitis, atopic, susceptibility to, 9" EXACT [OMIM:613519, OMIM:genemap2] +synonym: "atopic dermatitis 9" EXACT [DOID:0110105] +synonym: "atopic dermatitis type 9" EXACT [MONDORULE:1] +synonym: "dermatitis, ATOPIC, 9" RELATED [MONDO:Lexical] +synonym: "dermatitis, atopic, susceptibility to, 9" EXACT [] xref: DOID:0110105 {source="MONDO:equivalentTo"} xref: MEDGEN:462114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613519 {source="DOID:0110105", source="MONDO:equivalentTo"} @@ -304401,7 +304454,7 @@ synonym: "8p11 myeloproliferative syndrome" EXACT [NCIT:C84277, Orphanet:168953] synonym: "8p11 stem cell leukemia/lymphoma syndrome" EXACT [NCIT:C84277] synonym: "8p11 stem cell syndrome" EXACT [NCIT:C84277] synonym: "chromosome 8p11 myeloproliferative syndrome" EXACT [OMIM:613523] -synonym: "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities" EXACT [MONDO:0000884] +synonym: "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities" EXACT [DOID:0080167, MONDO:0000884] synonym: "myeloid and lymphoid neoplasms with FGFR1 rearrangement" EXACT [NCIT:C84277] synonym: "myeloid/lymphoid neoplasm associated with FGFR1 rearrangement" EXACT [Orphanet:168953] synonym: "myeloid/lymphoid neoplasms with FGFR1 rearrangement" EXACT [NCIT:C84277] @@ -304428,10 +304481,10 @@ subset: gard_rare {source="GARD:12532", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LGMD1H" EXACT ABBREVIATION [DOID:0110303, MONDO:Lexical, OMIM:613530, Orphanet:238755] +synonym: "LGMD1H" EXACT ABBREVIATION [DOID:0110303, MONDO:Lexical, OMIM:613530] synonym: "limb-girdle muscular dystrophy type 1H" RELATED [GARD:0012532] synonym: "muscular dystrophy limb-girdle type 1H" EXACT [DOID:0110303] -synonym: "muscular dystrophy, limb-girdle, type 1H" RELATED [MONDO:Lexical, OMIM:613530] +synonym: "muscular dystrophy, limb-girdle, type 1H" RELATED [MONDO:Lexical] xref: DOID:0110303 {source="MONDO:equivalentTo"} xref: GARD:12532 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="DOID:0110303", source="Orphanet:238755/attributed", source="Orphanet:238755/ntbt", source="Orphanet:238755"} @@ -304453,7 +304506,7 @@ subset: orphanet_rare {source="Orphanet:217340"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "17q21.31 microduplication syndrome" EXACT [DOID:0060434, Orphanet:217340] -synonym: "chromosome 17q21.31 duplication syndrome" EXACT [OMIM:613533] +synonym: "chromosome 17q21.31 duplication syndrome" EXACT [DOID:0060434, OMIM:613533] synonym: "dup(17)(q21.31)" EXACT [Orphanet:217340] synonym: "trisomy 17q21.31" EXACT [DOID:0060434, Orphanet:217340] xref: DOID:0060434 {source="MONDO:equivalentTo"} @@ -304478,9 +304531,9 @@ name: chromosome 6q11-q14 deletion syndrome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "chromosome 6q11-q14 deletion syndrome" EXACT [OMIM:613544] -synonym: "chromosome 6q11-q14 deletion syndrome, isolated cases" EXACT [OMIM:613544, OMIM:genemap2] -synonym: "chromosome 6Q13-q14 deletion syndrome" RELATED [OMIM:613544] +synonym: "chromosome 6q11-q14 deletion syndrome" EXACT [DOID:0060423, OMIM:613544] +synonym: "chromosome 6q11-q14 deletion syndrome, isolated cases" EXACT [] +synonym: "chromosome 6Q13-q14 deletion syndrome" RELATED [] xref: DOID:0060423 {source="MONDO:equivalentTo"} xref: MEDGEN:462140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613544 {source="MONDO:equivalentTo", source="DOID:0060423"} @@ -304504,11 +304557,11 @@ subset: ordo_morphological_anomaly {source="Orphanet:141276"} subset: orphanet_rare {source="Orphanet:141276"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "commissural cleft, isolated" RELATED [OMIM:613545] -synonym: "lateral cleft, isolated" RELATED [OMIM:613545] -synonym: "macrostomia" EXACT [Orphanet:141276] -synonym: "macrostomia, isolated" RELATED [OMIM:613545] -synonym: "transverse cleft, isolated" RELATED [OMIM:613545] +synonym: "commissural cleft, isolated" RELATED [] +synonym: "lateral cleft, isolated" RELATED [] +synonym: "macrostomia" EXACT [] +synonym: "macrostomia, isolated" RELATED [] +synonym: "transverse cleft, isolated" RELATED [] xref: GARD:16975 {source="MONDO:GARD"} xref: ICD10CM:Q18.4 {source="Orphanet:141276/attributed", source="Orphanet:141276/ntbt", source="Orphanet:141276"} xref: icd11.foundation:1460924303 {source="MONDO:equivalentTo"} @@ -304534,10 +304587,10 @@ subset: ordo_disorder {source="Orphanet:91"} subset: orphanet_rare {source="Orphanet:91"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aromatase deficiency" EXACT [OMIM:613546] +synonym: "aromatase deficiency" EXACT [icd11.foundation:260189446, NCIT:C120144, OMIM:613546, Orphanet:91] synonym: "congenital estrogen deficiency" EXACT [Orphanet:91] synonym: "congenital oestrogen deficiency" EXACT OMO:0003005 [] -synonym: "pseudohermaphroditism, female, due to placental aromatase deficiency" RELATED [OMIM:613546] +synonym: "pseudohermaphroditism, female, due to placental aromatase deficiency" RELATED [] xref: GARD:365 {source="MONDO:GARD"} xref: ICD10CM:E25.8 {source="Orphanet:91/attributed", source="Orphanet:91/ntbt", source="Orphanet:91"} xref: icd11.foundation:260189446 {source="MONDO:equivalentTo"} @@ -304561,8 +304614,8 @@ subset: gard_rare {source="GARD:18080", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "nephronophthisis 11" EXACT [MONDO:Lexical, OMIM:613550] -synonym: "nephronophthisis type 11" EXACT [DOID:0111118, MONDORULE:2, OMIM:613550] +synonym: "nephronophthisis 11" EXACT [DOID:0111118, MONDO:Lexical, OMIM:613550] +synonym: "nephronophthisis type 11" EXACT [MONDORULE:2] synonym: "NPHP11" EXACT ABBREVIATION [DOID:0111118, MONDO:Lexical, OMIM:613550] xref: DOID:0111118 {source="MONDO:equivalentTo"} xref: GARD:18080 {source="MONDO:GARD"} @@ -304583,12 +304636,12 @@ id: MONDO:0013303 name: autoimmune disease, susceptibility to, 6 def: "Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "AIS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613551] +synonym: "AIS6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "autoimmune disease caused by mutation in SIAE" EXACT [MONDO:design_pattern] synonym: "autoimmune disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613551] -synonym: "autoimmune disease, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:613551] +synonym: "autoimmune disease, susceptibility to, type 6" EXACT [MONDORULE:1] synonym: "SIAE autoimmune disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to autoimmune disease 6" RELATED [OMIM:613551] +synonym: "susceptibility to autoimmune disease 6" RELATED [] xref: MEDGEN:462147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613551 {source="MONDO:equivalentTo"} xref: UMLS:C3150797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462147"} @@ -304607,19 +304660,19 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:166081"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "von Willebrand disease 2" EXACT CLINGEN_LABEL [] -synonym: "von Willebrand disease type 2" EXACT [DOID:0060574] +synonym: "von Willebrand disease type 2" EXACT [DOID:0060574, Orphanet:166081] synonym: "von Willebrand disease type II" EXACT [DOID:0060574] -synonym: "VON WILLEBRAND disease, type 2" RELATED [MONDO:Lexical, OMIM:613554] -synonym: "Von Willebrand disease, type 2" RELATED [OMIM:613554] -synonym: "Von Willebrand disease, type 2A" RELATED [OMIM:613554] -synonym: "Von Willebrand disease, type 2B" RELATED [OMIM:613554] -synonym: "Von Willebrand disease, type 2M" RELATED [OMIM:613554] -synonym: "Von Willebrand disease, type 2N" RELATED [OMIM:613554] -synonym: "von Willebrand disease, types 2A, 2B, 2M, and 2N" EXACT [OMIM:613554, OMIM:genemap2] -synonym: "von willebrand's disease 2" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "von Willebrand's disease type 2" EXACT [DOID:0060574, MONDORULE:1] +synonym: "VON WILLEBRAND disease, type 2" RELATED [MONDO:Lexical] +synonym: "Von Willebrand disease, type 2" RELATED [] +synonym: "Von Willebrand disease, type 2A" RELATED [] +synonym: "Von Willebrand disease, type 2B" RELATED [] +synonym: "Von Willebrand disease, type 2M" RELATED [] +synonym: "Von Willebrand disease, type 2N" RELATED [] +synonym: "von Willebrand disease, types 2A, 2B, 2M, and 2N" EXACT [] +synonym: "von willebrand's disease 2" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0060574, MONDO:LexicalVariant] +synonym: "von Willebrand's disease type 2" EXACT [MONDORULE:1] synonym: "VWD type 2" EXACT [DOID:0060574] -synonym: "VWD, type 2" RELATED [OMIM:613554] +synonym: "VWD, type 2" RELATED [] synonym: "VWD2" EXACT ABBREVIATION [DOID:0060574, MONDO:Lexical, OMIM:613554] xref: DOID:0060574 {source="MONDO:equivalentTo"} xref: GARD:17020 {source="MONDO:GARD"} @@ -304646,14 +304699,14 @@ def: "An autosomal dominant nonsyndromic deafness that is characterized by postl subset: gard_rare {source="GARD:18133", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 51" NARROW [DOID:0110577] -synonym: "autosomal dominant nonsyndromic deafness 51" NARROW [OMIM:613558] -synonym: "autosomal dominant nonsyndromic deafness type 51" NARROW [DOID:0110577, MONDORULE:2] -synonym: "chromosome 9Q21.11 Duplication syndrome" NARROW [OMIM:613558] -synonym: "chromosome 9q21.11 duplication syndrome" EXACT [DOID:0110577] -synonym: "deafness, autosomal dominant 51" NARROW [MONDO:Lexical, OMIM:613558, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 51" NARROW [MONDORULE:2, OMIM:613558] -synonym: "DFNA51" NARROW ABBREVIATION [DOID:0110577, MONDO:Lexical, OMIM:613558] +synonym: "autosomal dominant deafness 51" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 51" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 51" NARROW [MONDORULE:2] +synonym: "chromosome 9Q21.11 Duplication syndrome" NARROW [] +synonym: "chromosome 9q21.11 duplication syndrome" EXACT [DOID:0110577, OMIM:613558] +synonym: "deafness, autosomal dominant 51" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 51" NARROW [MONDORULE:2] +synonym: "DFNA51" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110577 {source="MONDO:equivalentTo"} xref: GARD:18133 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110577"} @@ -304676,13 +304729,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "C12ORF65 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] synonym: "C12orf65 combined oxidative phosphorylation deficiency" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "combined oxidative phosphorylation deficiency 7" RELATED [MONDO:Lexical, OMIM:613559] +synonym: "combined oxidative phosphorylation deficiency 7" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in C12ORF65" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency caused by mutation in C12orf65" EXACT [] -synonym: "combined oxidative phosphorylation deficiency type 7" EXACT [MONDORULE:1, OMIM:613559] -synonym: "COXPD7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613559, Orphanet:254930] -synonym: "severe C12ORF65-related combined oxidative phosphorylation defect" EXACT [Orphanet:254930] -synonym: "severe C12ORF65-related COXPD" EXACT [Orphanet:254930] +synonym: "combined oxidative phosphorylation deficiency type 7" EXACT [MONDORULE:1] +synonym: "COXPD7" EXACT ABBREVIATION [DOID:0111487, MONDO:Lexical, OMIM:613559, Orphanet:254930] +synonym: "severe C12ORF65-related combined oxidative phosphorylation defect" EXACT [DOID:0111487, Orphanet:254930] +synonym: "severe C12ORF65-related COXPD" EXACT [DOID:0111487, Orphanet:254930] xref: DOID:0111487 {source="MONDO:equivalentTo"} xref: GARD:17234 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:254930", source="Orphanet:254930/attributed", source="Orphanet:254930/ntbt"} @@ -304704,10 +304757,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "mitochondrial myopathy and sideroblastic anaemia caused by mutation in YARS2" EXACT OMO:0003005 [] synonym: "mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2" EXACT [MONDO:design_pattern] -synonym: "MLASA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613561] +synonym: "MLASA2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "myopathy, lactic acidosis, and sideroblastic Anaemia type 2" EXACT OMO:0003005 [] -synonym: "myopathy, lactic acidosis, and sideroblastic anemia 2" EXACT [MONDO:Lexical, OMIM:613561] -synonym: "myopathy, lactic acidosis, and sideroblastic Anemia type 2" EXACT [MONDORULE:1, OMIM:613561] +synonym: "myopathy, lactic acidosis, and sideroblastic anemia 2" EXACT [DOID:0111186, MONDO:Lexical, OMIM:613561] +synonym: "myopathy, lactic acidosis, and sideroblastic Anemia type 2" EXACT [MONDORULE:1] synonym: "YARS2 mitochondrial myopathy and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "YARS2 mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111186 {source="MONDO:equivalentTo"} @@ -304733,16 +304786,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:363972"} subset: orphanet_rare {source="Orphanet:363972"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cbl mutation-associated syndrome" RELATED [OMIM:613563] +synonym: "Cbl mutation-associated syndrome" RELATED [] synonym: "Cbl syndrome" EXACT [OMIM:613563, Orphanet:363972] synonym: "CBL-related disorder" EXACT CLINGEN_LABEL [] synonym: "Noonan syndrome-like disorder with JMML" EXACT [Orphanet:363972] synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia" EXACT OMO:0003005 [] -synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" EXACT [] +synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" EXACT [Orphanet:363972] synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia" RELATED OMO:0003005 [] -synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" RELATED [MONDO:Lexical, OMIM:613563] +synonym: "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" RELATED [MONDO:Lexical] synonym: "Noonan-like syndrome" EXACT [] -synonym: "NSLL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613563] +synonym: "NSLL" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17577 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:363972", source="Orphanet:363972/attributed", source="Orphanet:363972/ntbt"} xref: MEDGEN:462153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -304759,7 +304812,7 @@ name: chromosome 2p12-p11.2 deletion syndrome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "chromosome 2p12-p11.2 deletion syndrome" EXACT [OMIM:613564] +synonym: "chromosome 2p12-p11.2 deletion syndrome" EXACT [DOID:0060414, OMIM:613564] xref: DOID:0060414 {source="MONDO:equivalentTo"} xref: MEDGEN:462154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613564 {source="MONDO:equivalentTo", source="DOID:0060414"} @@ -304781,11 +304834,11 @@ subset: ordo_disorder {source="Orphanet:95699"} subset: orphanet_rare {source="Orphanet:95699"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency" RELATED [OMIM:613571] -synonym: "congenital adrenal hyperplasia due to cytochrome POR deficiency" EXACT [Orphanet:95699] +synonym: "adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency" RELATED [] +synonym: "congenital adrenal hyperplasia due to cytochrome POR deficiency" EXACT [icd11.foundation:497412536, Orphanet:95699] synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase" RELATED [GARD:0012664] -synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency" RELATED [OMIM:613571] -synonym: "disordered steroidogenesis due to POR deficiency" RELATED [OMIM:613571] +synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency" RELATED [] +synonym: "disordered steroidogenesis due to POR deficiency" RELATED [] synonym: "POR deficiency" EXACT [Orphanet:95699] synonym: "PORD" EXACT ABBREVIATION [Orphanet:95699] xref: DOID:0080925 {source="MONDO:equivalentTo"} @@ -304822,10 +304875,10 @@ subset: orphanet_rare {source="Orphanet:247820"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "ectodermal dysplasia-syndactyly syndrome 1" RELATED [MONDO:Lexical, OMIM:613573] -synonym: "ectodermal dysplasia-syndactyly syndrome type 1" EXACT [MONDORULE:1, OMIM:613573] -synonym: "EDSS" EXACT ABBREVIATION [Orphanet:247820] -synonym: "EDSS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613573, Orphanet:247820] +synonym: "ectodermal dysplasia-syndactyly syndrome 1" RELATED [MONDO:Lexical] +synonym: "ectodermal dysplasia-syndactyly syndrome type 1" EXACT [MONDORULE:1] +synonym: "EDSS" EXACT ABBREVIATION [] +synonym: "EDSS1" EXACT ABBREVIATION [MONDO:Lexical] xref: GARD:17198 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:247820", source="Orphanet:247820/attributed", source="Orphanet:247820/ntbt"} xref: MEDGEN:1648397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -304844,9 +304897,9 @@ subset: gard_rare {source="GARD:15677", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARL6 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 55" EXACT [MONDO:Lexical, OMIM:613575] +synonym: "retinitis pigmentosa 55" EXACT [DOID:0110370, MONDO:Lexical, OMIM:613575] synonym: "retinitis pigmentosa caused by mutation in ARL6" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 55" EXACT [DOID:0110370, MONDORULE:2, OMIM:613575] +synonym: "retinitis pigmentosa type 55" EXACT [MONDORULE:2] synonym: "RP55" EXACT ABBREVIATION [DOID:0110370, MONDO:Lexical, OMIM:613575] xref: DOID:0110370 {source="MONDO:equivalentTo"} xref: GARD:15677 {source="MONDO:GARD"} @@ -304867,9 +304920,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:247827"} subset: orphanet_rare {source="Orphanet:247827"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectodermal dysplasia-syndactyly syndrome 2" RELATED [MONDO:Lexical, OMIM:613576] -synonym: "EDCS" EXACT ABBREVIATION [Orphanet:247827] -synonym: "EDSS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613576, Orphanet:247827] +synonym: "ectodermal dysplasia-syndactyly syndrome 2" RELATED [MONDO:Lexical] +synonym: "EDCS" EXACT ABBREVIATION [] +synonym: "EDSS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613576] xref: GARD:17199 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:247827/attributed", source="Orphanet:247827/ntbt", source="Orphanet:247827"} xref: MEDGEN:462159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -304886,10 +304939,10 @@ subset: gard_rare {source="GARD:15678", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "IMPG2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "maculopathy, Impg2-related" RELATED [OMIM:613581] -synonym: "retinitis pigmentosa 56" EXACT [MONDO:Lexical, OMIM:613581] +synonym: "maculopathy, Impg2-related" RELATED [] +synonym: "retinitis pigmentosa 56" EXACT [DOID:0110371, MONDO:Lexical, OMIM:613581] synonym: "retinitis pigmentosa caused by mutation in IMPG2" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 56" EXACT [DOID:0110371, MONDORULE:2, OMIM:613581] +synonym: "retinitis pigmentosa type 56" EXACT [MONDORULE:2] synonym: "RP56" EXACT ABBREVIATION [DOID:0110371, MONDO:Lexical, OMIM:613581] xref: DOID:0110371 {source="MONDO:equivalentTo"} xref: GARD:15678 {source="MONDO:GARD"} @@ -304914,9 +304967,9 @@ subset: gard_rare {source="GARD:15679", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PDE6G retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 57" EXACT [MONDO:Lexical, OMIM:613582] +synonym: "retinitis pigmentosa 57" EXACT [DOID:0110407, MONDO:Lexical, OMIM:613582] synonym: "retinitis pigmentosa caused by mutation in PDE6G" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 57" EXACT [DOID:0110407, MONDORULE:2, OMIM:613582] +synonym: "retinitis pigmentosa type 57" EXACT [MONDORULE:2] synonym: "RP57" EXACT ABBREVIATION [DOID:0110407, MONDO:Lexical, OMIM:613582] xref: DOID:0110407 {source="MONDO:equivalentTo"} xref: GARD:15679 {source="MONDO:GARD"} @@ -304942,10 +304995,10 @@ subset: ordo_disorder {source="Orphanet:247834"} subset: orphanet_rare {source="Orphanet:247834"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "occult macular dystrophy" EXACT [MONDO:Lexical, OMIM:613587] +synonym: "occult macular dystrophy" EXACT [DOID:0050578, icd11.foundation:863463706, MONDO:Lexical, OMIM:613587, Orphanet:247834] synonym: "OCMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613587, Orphanet:247834] -synonym: "OMD" EXACT ABBREVIATION [Orphanet:247834] -synonym: "Omd" RELATED [OMIM:613587] +synonym: "OMD" EXACT ABBREVIATION [OMIM:613587, Orphanet:247834] +synonym: "Omd" RELATED [] xref: DOID:0050578 {source="MONDO:equivalentTo"} xref: GARD:17200 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:247834", source="Orphanet:247834/attributed", source="Orphanet:247834/ntbt"} @@ -304970,7 +305023,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:51084"} subset: orphanet_rare {source="Orphanet:51084"} subset: rare -synonym: "torsade DE pointes, short-coupled variant" RELATED [OMIM:613600] +synonym: "torsade DE pointes, short-coupled variant" RELATED [] xref: GARD:16651 {source="MONDO:GARD"} xref: ICD10CM:I49.8 {source="Orphanet:51084/attributed", source="Orphanet:51084/ntbt", source="Orphanet:51084"} xref: MEDGEN:462201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -304984,7 +305037,7 @@ is_a: MONDO:0007263 {source="https://orcid.org/0000-0001-5208-3432"} ! cardiac r id: MONDO:0013318 name: early repolarization associated with ventricular fibrillation synonym: "early repolarization associated with ventricular fibrillation" EXACT [OMIM:613601] -synonym: "early repolarization syndrome" RELATED [OMIM:613601] +synonym: "early repolarization syndrome" RELATED [] xref: MEDGEN:462202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613601 {source="MONDO:equivalentTo"} xref: UMLS:C3150852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462202"} @@ -305014,12 +305067,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:261211"} subset: orphanet_rare {source="Orphanet:261211"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT [DECIPHER:68, DOID:0060400, Orphanet:261211] -synonym: "16p11.2p12.2 microdeletion syndrome" EXACT [DOID:0060400] -synonym: "chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB" RELATED [OMIM:613604] -synonym: "chromosome 16p12.2-p11.2 deletion syndrome, isolated cases" EXACT [OMIM:613604, OMIM:genemap2] +synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT [DECIPHER:68, DOID:0060400] +synonym: "16p11.2p12.2 microdeletion syndrome" EXACT [DOID:0060400, Orphanet:261211] +synonym: "chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB" RELATED [] +synonym: "chromosome 16p12.2-p11.2 deletion syndrome, isolated cases" EXACT [] synonym: "Del(16)(p11.2p12.2)" EXACT [Orphanet:261211] -synonym: "monosomy 16p11.2-p12.2" EXACT [Orphanet:261211] +synonym: "monosomy 16p11.2-p12.2" EXACT [] synonym: "monosomy 16p11.2p12.2" EXACT [Orphanet:261211] xref: DECIPHER:68 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"} xref: DOID:0060400 {source="MONDO:equivalentTo"} @@ -305042,9 +305095,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013321 name: forsythe-wakeling syndrome -synonym: "FORSYTHE-WAKELING syndrome" RELATED [MONDO:Lexical, OMIM:613606] +synonym: "FORSYTHE-WAKELING syndrome" RELATED [MONDO:Lexical] synonym: "FWS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613606] -synonym: "microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia" RELATED [OMIM:613606] +synonym: "microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia" RELATED [] xref: MEDGEN:462209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613606 {source="MONDO:equivalentTo"} xref: UMLS:C3150859 {source="MEDGEN:462209", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -305056,9 +305109,9 @@ name: epilepsy, familial adult myoclonic, 3 subset: gard_rare {source="GARD:18084", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cortical myoclonic tremor with epilepsy, familial, 3" RELATED [OMIM:613608] -synonym: "epilepsy, familial ADULT myoclonic, 3" RELATED [MONDO:Lexical, OMIM:613608] -synonym: "FAME3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613608] +synonym: "cortical myoclonic tremor with epilepsy, familial, 3" RELATED [] +synonym: "epilepsy, familial ADULT myoclonic, 3" RELATED [MONDO:Lexical] +synonym: "FAME3" EXACT ABBREVIATION [DOID:0111695, MONDO:Lexical, OMIM:613608] xref: DOID:0111695 {source="MONDO:equivalentTo"} xref: GARD:18084 {source="MONDO:GARD"} xref: MEDGEN:462210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -305078,11 +305131,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15680", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CED2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613610] -synonym: "CRANIOECTODERMAL dysplasia 2" RELATED [OMIM:613610] -synonym: "cranioectodermal dysplasia 2" EXACT [MONDO:Lexical, OMIM:613610] +synonym: "CED2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "CRANIOECTODERMAL dysplasia 2" RELATED [] +synonym: "cranioectodermal dysplasia 2" EXACT [DOID:0080804, MONDO:Lexical, OMIM:613610] synonym: "cranioectodermal dysplasia caused by mutation in WDR35" EXACT [MONDO:design_pattern] -synonym: "Cranioectodermal dysplasia type 2" EXACT [MONDORULE:1, OMIM:613610] +synonym: "Cranioectodermal dysplasia type 2" EXACT [MONDORULE:1] synonym: "WDR35 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WDR35-related cranioectodermal dysplasia" EXACT [https://clinicalgenome.org/affiliation/40065/] xref: DOID:0080804 {source="MONDO:equivalentTo"} @@ -305109,8 +305162,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:99141"} subset: orphanet_rare {source="Orphanet:99141"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CATLPH" RELATED ABBREVIATION [OMIM:613611] -synonym: "choanal atresia and lymphedema" RELATED [OMIM:613611] +synonym: "CATLPH" RELATED ABBREVIATION [] +synonym: "choanal atresia and lymphedema" RELATED [] xref: GARD:16898 {source="MONDO:GARD"} xref: ICD10CM:Q82.0 {source="Orphanet:99141/ntbt", source="Orphanet:99141", source="MONDO:directSiblingOf"} xref: MEDGEN:462225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -305132,18 +305185,18 @@ subset: ordo_disorder {source="Orphanet:263487"} subset: orphanet_rare {source="Orphanet:263487"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carbohydrate deficient glycoprotein syndrome type III" EXACT [Orphanet:263487] -synonym: "CDG III" RELATED [OMIM:613612] +synonym: "carbohydrate deficient glycoprotein syndrome type III" EXACT [DOID:0070261, Orphanet:263487] +synonym: "CDG III" RELATED [] synonym: "CDG syndrome type 3" RELATED [GARD:0001173] -synonym: "CDG syndrome type III" EXACT [Orphanet:263487] +synonym: "CDG syndrome type III" EXACT [DOID:0070261, Orphanet:263487] synonym: "CDG-III" EXACT [Orphanet:263487] -synonym: "CDG2I" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613612, Orphanet:263487] -synonym: "COG5-CDG" EXACT ABBREVIATION [Orphanet:263487] +synonym: "CDG2I" EXACT ABBREVIATION [DOID:0070261, MONDO:Lexical, OMIM:613612, Orphanet:263487] +synonym: "COG5-CDG" EXACT ABBREVIATION [DOID:0070261, Orphanet:263487] synonym: "COG5-CDG (CDG-III)" RELATED [GARD:0012348] synonym: "COG5-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] -synonym: "congenital disorder of glycosylation type 2i" EXACT [Orphanet:263487] -synonym: "congenital disorder of glycosylation type III" EXACT [Orphanet:263487] -synonym: "congenital disorder of glycosylation, type III" RELATED [MONDO:Lexical, OMIM:613612] +synonym: "congenital disorder of glycosylation type 2i" EXACT [DOID:0070261, Orphanet:263487] +synonym: "congenital disorder of glycosylation type III" EXACT [DOID:0070261, Orphanet:263487] +synonym: "congenital disorder of glycosylation, type III" RELATED [MONDO:Lexical] xref: DOID:0070261 {source="MONDO:equivalentTo"} xref: GARD:12348 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:263487", source="Orphanet:263487/attributed", source="Orphanet:263487/ntbt"} @@ -305168,11 +305221,11 @@ subset: gard_rare {source="GARD:15681", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "SDCCAG8 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SENIOR-Loken syndrome 7" RELATED [OMIM:613615] +synonym: "SENIOR-Loken syndrome 7" RELATED [] synonym: "Senior-Loken syndrome 7" EXACT [MONDO:Lexical, OMIM:613615] synonym: "Senior-Loken syndrome caused by mutation in SDCCAG8" EXACT [MONDO:design_pattern] -synonym: "Senior-Loken syndrome type 7" EXACT [MONDORULE:1, OMIM:613615] -synonym: "SLSN7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613615] +synonym: "Senior-Loken syndrome type 7" EXACT [MONDORULE:1] +synonym: "SLSN7" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15681 {source="MONDO:GARD"} xref: MEDGEN:462227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613615 {source="MONDO:equivalentTo"} @@ -305194,12 +305247,12 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93600"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HOGA1 primary hyperoxaluria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613616] -synonym: "hyperoxaluria, primary, type 3" RELATED [OMIM:613616] -synonym: "hyperoxaluria, primary, type III" RELATED [MONDO:Lexical, OMIM:613616] +synonym: "HP3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperoxaluria, primary, type 3" RELATED [] +synonym: "hyperoxaluria, primary, type III" RELATED [MONDO:Lexical] synonym: "PH III" RELATED [GARD:0010738] synonym: "primary hyperoxaluria caused by mutation in HOGA1" EXACT [MONDO:design_pattern] -synonym: "primary hyperoxaluria type III" EXACT [NCIT:C123214] +synonym: "primary hyperoxaluria type III" EXACT [DOID:0111672, NCIT:C123214] xref: DOID:0111672 {source="MONDO:equivalentTo"} xref: GARD:10738 {source="MONDO:GARD"} xref: ICD10CM:E74.8 {source="Orphanet:93600", source="Orphanet:93600/attributed", source="Orphanet:93600/ntbt"} @@ -305223,9 +305276,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:15682", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 58" EXACT [MONDO:Lexical, OMIM:613617] +synonym: "retinitis pigmentosa 58" EXACT [DOID:0110362, MONDO:Lexical, OMIM:613617] synonym: "retinitis pigmentosa caused by mutation in ZNF513" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 58" EXACT [DOID:0110362, MONDORULE:2, OMIM:613617] +synonym: "retinitis pigmentosa type 58" EXACT [MONDORULE:2] synonym: "RP58" EXACT ABBREVIATION [DOID:0110362, MONDO:Lexical, OMIM:613617] synonym: "ZNF513 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110362 {source="MONDO:equivalentTo"} @@ -305249,7 +305302,7 @@ subset: ordo_etiological_subtype {source="Orphanet:238578"} subset: ordo_subtype_of_a_disorder {source="Orphanet:238578"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 17q23.1-q23.2 DUPLICATION syndrome" RELATED [OMIM:613618] +synonym: "chromosome 17q23.1-q23.2 DUPLICATION syndrome" RELATED [] synonym: "hereditary clubfoot due to 17q23.1-q23.2 microduplication" EXACT [Orphanet:238578] xref: GARD:17177 {source="MONDO:GARD"} xref: ICD10CM:Q66.8 {source="Orphanet:238578", source="Orphanet:238578/attributed", source="Orphanet:238578/ntbt"} @@ -305282,11 +305335,11 @@ subset: gard_rare {source="GARD:18632", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "combined deficiency of factor V and factor VIII caused by mutation in MCFD2" EXACT [MONDO:design_pattern] -synonym: "F5F8D2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613625] -synonym: "factor 5 and Factor VIII, combined deficiency of, 2" EXACT CLINGEN_LABEL [] -synonym: "factor 5 and Factor VIII, combined deficiency of, type 2" EXACT [MONDORULE:1, OMIM:613625] -synonym: "factor V and factor VIII, combined deficiency of" EXACT [OMIM:613625, OMIM:genemap2] -synonym: "factor V and factor VIII, combined deficiency of, 2" RELATED [MONDO:Lexical, OMIM:613625] +synonym: "F5F8D2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "factor 5 and Factor VIII, combined deficiency of, 2" EXACT CLINGEN_LABEL [OMIM:613625] +synonym: "factor 5 and Factor VIII, combined deficiency of, type 2" EXACT [MONDORULE:1] +synonym: "factor V and factor VIII, combined deficiency of" EXACT [] +synonym: "factor V and factor VIII, combined deficiency of, 2" RELATED [MONDO:Lexical] synonym: "MCFD2 combined deficiency of factor V and factor VIII" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18632 {source="MONDO:GARD"} xref: MEDGEN:462239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -305303,9 +305356,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013332 name: brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability -synonym: "brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability" EXACT [OMIM:613627] +synonym: "brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability" EXACT [] synonym: "brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation" EXACT DEPRECATED [OMIM:613627] -synonym: "Tsukahara syndrome" RELATED [OMIM:613627] +synonym: "Tsukahara syndrome" RELATED [] xref: MEDGEN:462240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613627 {source="MONDO:equivalentTo"} xref: SCTID:719162001 {source="MONDO:equivalentTo"} @@ -305319,7 +305372,7 @@ def: "An often asymptomatic developmental abnormality of the cervical spine. It subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "odontoid hypoplasia" EXACT [OMIM:613628] +synonym: "odontoid hypoplasia" EXACT [NCIT:C86969, OMIM:613628] xref: MEDGEN:339524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C86969 {source="MONDO:equivalentTo"} xref: OMIM:613628 {source="MONDO:equivalentTo"} @@ -305338,8 +305391,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:465824"} subset: orphanet_rare {source="Orphanet:465824"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cocoon syndrome" EXACT [OMIM:613630] -synonym: "fetal encasement syndrome" EXACT [DOID:0060647, OMIM:613630] +synonym: "cocoon syndrome" EXACT [DOID:0060647, OMIM:613630] +synonym: "fetal encasement syndrome" EXACT [DOID:0060647, OMIM:613630, Orphanet:465824] synonym: "foetal encasement syndrome" EXACT OMO:0003005 [] xref: DOID:0060647 {source="MONDO:equivalentTo"} xref: GARD:17823 {source="MONDO:GARD"} @@ -305354,9 +305407,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013335 name: tuberculin skin test reactivity, absence of -synonym: "tst reactivity, absence of" RELATED [OMIM:613636] -synonym: "Tst1" RELATED [OMIM:613636] -synonym: "tuberculin skin test reactivity, absence of" EXACT [OMIM:613636, OMIM:genemap2] +synonym: "tst reactivity, absence of" RELATED [] +synonym: "Tst1" RELATED [] +synonym: "tuberculin skin test reactivity, absence of" EXACT [OMIM:613636] xref: MEDGEN:462242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613636 {source="MONDO:equivalentTo"} xref: UMLS:C3150892 {source="MEDGEN:462242", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -305373,9 +305426,9 @@ subset: ordo_disorder {source="Orphanet:357001"} subset: ordo_malformation_syndrome {source="Orphanet:357001"} subset: orphanet_rare {source="Orphanet:357001"} subset: rare -synonym: "19p13.13 microdeletion syndrome" RELATED [Orphanet:357001] -synonym: "chromosome 19p13.13 deletion syndrome" EXACT [OMIM:613638] -synonym: "chromosome 19P13.13 Duplication syndrome" RELATED [OMIM:613638] +synonym: "19p13.13 microdeletion syndrome" RELATED [] +synonym: "chromosome 19p13.13 deletion syndrome" EXACT [DOID:0060426, OMIM:613638] +synonym: "chromosome 19P13.13 Duplication syndrome" RELATED [] synonym: "Del(19)(p13.13)" EXACT [Orphanet:357001] synonym: "monosomy 19p13.13" EXACT [Orphanet:357001] xref: DOID:0060426 {source="MONDO:equivalentTo"} @@ -305403,13 +305456,13 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15683", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hereditary sensory and autonomic neuropathy type 1C" RELATED [DOID:0070157] +synonym: "hereditary sensory and autonomic neuropathy type 1C" RELATED [] synonym: "hereditary sensory and autonomic neuropathy type IC" EXACT [DOID:0070157] -synonym: "HSAN 1C" RELATED [OMIM:613640] +synonym: "HSAN 1C" RELATED [] synonym: "HSAN1C" EXACT ABBREVIATION [DOID:0070157, MONDO:Lexical, OMIM:613640] -synonym: "HSN 1C" RELATED [OMIM:613640] -synonym: "neuropathy, hereditary sensory and autonomic, type IC" RELATED [MONDO:Lexical, OMIM:613640] -synonym: "neuropathy, hereditary sensory, type 1C" RELATED [OMIM:613640] +synonym: "HSN 1C" RELATED [] +synonym: "neuropathy, hereditary sensory and autonomic, type IC" RELATED [MONDO:Lexical] +synonym: "neuropathy, hereditary sensory, type 1C" RELATED [] xref: DOID:0070157 {source="MONDO:equivalentTo"} xref: GARD:15683 {source="MONDO:GARD"} xref: MEDGEN:462246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -305430,18 +305483,18 @@ subset: ordo_disorder {source="Orphanet:254334"} subset: orphanet_rare {source="Orphanet:254334"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type B" EXACT [DOID:0110204] +synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type B" EXACT [DOID:0110204, Orphanet:254334] synonym: "Charcot-Marie-Tooth disease caused by mutation in KARS" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease recessive intermediate type B" EXACT [DOID:0110204, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, recessive intermediate B" RELATED [MONDO:Lexical, OMIM:613641] -synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type B" EXACT [MONDORULE:1, OMIM:613641] +synonym: "Charcot-Marie-Tooth disease recessive intermediate type B" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, recessive intermediate B" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type B" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, recessive intermediate, B" RELATED [GARD:0012454] synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate B" EXACT [DOID:0110204] -synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate B" RELATED [OMIM:613641] +synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate B" RELATED [] synonym: "CMTRIB" EXACT ABBREVIATION [DOID:0110204, MONDO:Lexical, OMIM:613641] synonym: "KARS Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RI-CMT type B" EXACT [Orphanet:254334] -synonym: "RI-CMTB" EXACT [DOID:0110204] +synonym: "RI-CMTB" EXACT ABBREVIATION [DOID:0110204] xref: DOID:0110204 {source="MONDO:equivalentTo"} xref: GARD:12454 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="DOID:0110204", source="Orphanet:254334/attributed", source="Orphanet:254334/ntbt", source="Orphanet:254334"} @@ -305462,10 +305515,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15684", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1GG" RELATED [MONDO:Lexical, OMIM:613642] -synonym: "cardiomyopathy, dilated, type 1Gg" EXACT [MONDORULE:9, OMIM:613642] +synonym: "cardiomyopathy, dilated, 1GG" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Gg" EXACT [MONDORULE:9] synonym: "CMD1GG" EXACT ABBREVIATION [DOID:0110435, MONDO:Lexical, OMIM:613642] -synonym: "dilated cardiomyopathy type 1GG" EXACT [DOID:0110435, MONDORULE:9] +synonym: "dilated cardiomyopathy type 1GG" EXACT [MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in SDHA" EXACT [MONDO:design_pattern] synonym: "SDHA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110435 {source="MONDO:equivalentTo"} @@ -305482,10 +305535,10 @@ id: MONDO:0013340 name: Parkinson disease 5, autosomal dominant, susceptibility to def: "An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] subset: predisposition -synonym: "PARK5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613643] +synonym: "PARK5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Parkinson disease 5, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:613643] -synonym: "Parkinson disease 5, susceptibility to" EXACT [OMIM:613643, OMIM:genemap2] -synonym: "susceptibility to autosomal dominant Parkinson disease 5" RELATED [OMIM:613643] +synonym: "Parkinson disease 5, susceptibility to" EXACT [] +synonym: "susceptibility to autosomal dominant Parkinson disease 5" RELATED [] synonym: "UCHL1 young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "young-onset Parkinson disease caused by mutation in UCHL1" EXACT [MONDO:design_pattern] xref: MEDGEN:462249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -305514,11 +305567,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CD320 methylmalonic acidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "methylmalonic acidemia caused by mutation in CD320" EXACT [MONDO:design_pattern] -synonym: "methylmalonic acidemia, TCb1R type" EXACT [DOID:0060741, Orphanet:280183] -synonym: "methylmalonic acidemia, TCbIR type" EXACT [DOID:0060741, Orphanet:280183] -synonym: "methylmalonic acidemia, Tcblr type" RELATED [OMIM:613646] -synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT [DOID:0060741, OMIM:613646] -synonym: "methylmalonic aciduria, transient, due to transcobalamin receptor defect" RELATED [OMIM:613646] +synonym: "methylmalonic acidemia, TCb1R type" EXACT [Orphanet:280183] +synonym: "methylmalonic acidemia, TCbIR type" EXACT [Orphanet:280183] +synonym: "methylmalonic acidemia, Tcblr type" RELATED [] +synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT [DOID:0060741, Orphanet:280183] +synonym: "methylmalonic aciduria, transient, due to transcobalamin receptor defect" RELATED [] xref: DOID:0060741 {source="MONDO:equivalentTo"} xref: GARD:16481 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:280183/attributed", source="Orphanet:280183/ntbt", source="DOID:0060741", source="Orphanet:280183"} @@ -305545,10 +305598,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AP5Z1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 48" EXACT [DOID:0110800] -synonym: "autosomal recessive spastic paraplegia type 48" EXACT [DOID:0110800] +synonym: "autosomal recessive spastic paraplegia type 48" EXACT [DOID:0110800, Orphanet:306511] synonym: "hereditary spastic paraplegia caused by mutation in AP5Z1" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 48" EXACT [DOID:0110800, MONDORULE:2] -synonym: "spastic paraplegia 48, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613647] +synonym: "hereditary spastic paraplegia type 48" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 48, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG48" EXACT ABBREVIATION [DOID:0110800, MONDO:Lexical, OMIM:613647, Orphanet:306511] xref: DOID:0110800 {source="MONDO:equivalentTo"} xref: GARD:17378 {source="MONDO:GARD"} @@ -305572,9 +305625,9 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:12958", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "C1Q deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613652] -synonym: "C1q deficiency" EXACT [OMIM:613652] -synonym: "C1QD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613652] +synonym: "C1Q deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C119990, OMIMPS:613652] +synonym: "C1q deficiency" EXACT [NCIT:C119990, OMIMPS:613652] +synonym: "C1QD" EXACT ABBREVIATION [MONDO:Lexical] xref: GARD:12958 {source="MONDO:GARD"} xref: MEDGEN:462252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200777 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -305594,12 +305647,12 @@ name: migraine, with or without aura, susceptibility to, 13 def: "Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "KCNK18 migraine disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MGR13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613656] +synonym: "MGR13" RELATED ABBREVIATION [MONDO:Lexical] synonym: "migraine disorder caused by mutation in KCNK18" EXACT [MONDO:design_pattern] -synonym: "migraine with or without aura, susceptibility to, 13" RELATED [OMIM:613656] -synonym: "migraine, with or without aura, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:613656] -synonym: "migraine, with or without aura, susceptibility to, type 13" EXACT [MONDORULE:2, OMIM:613656] -synonym: "susceptibility to migraine with or without aura 13" RELATED [OMIM:613656] +synonym: "migraine with or without aura, susceptibility to, 13" RELATED [] +synonym: "migraine, with or without aura, susceptibility to, 13" EXACT [MONDO:Lexical] +synonym: "migraine, with or without aura, susceptibility to, type 13" EXACT [MONDORULE:2] +synonym: "susceptibility to migraine with or without aura 13" RELATED [] xref: MEDGEN:900808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613656 {source="MONDO:equivalentTo"} xref: UMLS:C4225479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:900808"} @@ -305615,11 +305668,11 @@ name: d-2-hydroxyglutaric aciduria 2 def: "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15685", source="MONDO:GARD"} subset: rare -synonym: "D-2-hydroxyglutaric aciduria 2" RELATED [OMIM:613657] -synonym: "d-2-hydroxyglutaric aciduria 2" EXACT [MONDO:Lexical, OMIM:613657] +synonym: "D-2-hydroxyglutaric aciduria 2" RELATED [] +synonym: "d-2-hydroxyglutaric aciduria 2" EXACT [DOID:0111352, MONDO:Lexical, OMIM:613657] synonym: "D-2-hydroxyglutaric aciduria caused by mutation in IDH2" EXACT [MONDO:design_pattern] -synonym: "D-2-hydroxyglutaric aciduria type 2" EXACT [MONDORULE:1, OMIM:613657] -synonym: "D2HGA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613657] +synonym: "D-2-hydroxyglutaric aciduria type 2" EXACT [MONDORULE:1] +synonym: "D2HGA2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "IDH2 D-2-hydroxyglutaric aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111352 {source="MONDO:equivalentTo"} xref: GARD:15685 {source="MONDO:GARD"} @@ -305653,11 +305706,11 @@ subset: gard_rare {source="GARD:15686", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CDHR1 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cone-rod dystrophy 15" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613660] +synonym: "cone-rod dystrophy 15" EXACT CLINGEN_LABEL [DOID:0111021, MONDO:Lexical, OMIM:613660] synonym: "cone-rod dystrophy caused by mutation in CDHR1" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 15" EXACT [DOID:0111021, MONDORULE:2, OMIM:613660] +synonym: "cone-rod dystrophy type 15" EXACT [MONDORULE:2] synonym: "CORD15" EXACT ABBREVIATION [DOID:0111021, MONDO:Lexical, OMIM:613660] -synonym: "retinitis pigmentosa 65" RELATED [OMIM:613660] +synonym: "retinitis pigmentosa 65" RELATED [] xref: DOID:0111021 {source="MONDO:equivalentTo"} xref: GARD:15686 {source="MONDO:GARD"} xref: MEDGEN:462262 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -305691,7 +305744,7 @@ synonym: "CDG-Ip" EXACT [Orphanet:280071] synonym: "CDG1P" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613661, Orphanet:280071] synonym: "congenital disorder of glycosylation type 1p" EXACT [Orphanet:280071] synonym: "congenital disorder of glycosylation type Ip" EXACT [Orphanet:280071] -synonym: "congenital disorder of glycosylation, type Ip" RELATED [MONDO:Lexical, OMIM:613661] +synonym: "congenital disorder of glycosylation, type Ip" RELATED [MONDO:Lexical] xref: DOID:0080567 {source="MONDO:equivalentTo"} xref: GARD:12396 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:280071/attributed", source="Orphanet:280071/ntbt", source="Orphanet:280071"} @@ -305712,11 +305765,11 @@ id: MONDO:0013350 name: mitochondrial DNA depletion syndrome 4b subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mitochondrial DNA depletion syndrome 4B (MNGIE type)" RELATED [MONDO:Lexical, OMIM:613662] -synonym: "mitochondrial DNA depletion syndrome type 4b" EXACT [DOID:0080123, MONDORULE:4] -synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related" RELATED [OMIM:613662] -synonym: "Mngie, Polg-related" RELATED [OMIM:613662] -synonym: "MTDPS4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613662] +synonym: "mitochondrial DNA depletion syndrome 4B (MNGIE type)" RELATED [MONDO:Lexical] +synonym: "mitochondrial DNA depletion syndrome type 4b" EXACT [MONDORULE:4] +synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related" RELATED [] +synonym: "Mngie, Polg-related" RELATED [] +synonym: "MTDPS4B" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080123 {source="MONDO:equivalentTo"} xref: MEDGEN:462264 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613662 {source="DOID:0080123", source="MONDO:equivalentTo"} @@ -305736,7 +305789,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:402364"} subset: orphanet_rare {source="Orphanet:402364"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "microcephaly, postnatal progressive, with seizures and brain atrophy" RELATED [OMIM:613668] +synonym: "microcephaly, postnatal progressive, with seizures and brain atrophy" RELATED [] synonym: "postnatal progressive microcephaly, seizures, and brain atrophy" RELATED [GARD:0010995] xref: DOID:0111262 {source="MONDO:equivalentTo"} xref: GARD:10995 {source="MONDO:GARD"} @@ -305761,9 +305814,9 @@ subset: orphanet_rare {source="Orphanet:391372"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FOXP1 related global developmental delay, intellectual disability and speech defects" RELATED [GARD:0012501] -synonym: "intellectual disability with language impairment and with or without autistic features" RELATED [GARD:0012501, OMIM:613670] -synonym: "intellectual disability-severe speech delay-mild dysmorphism syndrome" EXACT CLINGEN_LABEL [] -synonym: "mental retardation with language impairment and with or without autistic features" RELATED DEPRECATED [OMIM:613670] +synonym: "intellectual disability with language impairment and with or without autistic features" RELATED [GARD:0012501] +synonym: "intellectual disability-severe speech delay-mild dysmorphism syndrome" EXACT CLINGEN_LABEL [DOID:0111331] +synonym: "mental retardation with language impairment and with or without autistic features" RELATED DEPRECATED [] xref: DOID:0111331 {source="MONDO:equivalentTo"} xref: GARD:12501 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:391372/attributed", source="Orphanet:391372/ntbt", source="Orphanet:391372"} @@ -305785,9 +305838,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:562559"} subset: orphanet_rare {source="Orphanet:562559"} subset: rare -synonym: "intellectual disability, anterior maxillary protrusion, and strabismus" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613671] -synonym: "mental retardation, anterior maxillary protrusion, and strabismus" RELATED DEPRECATED [MONDO:Lexical, OMIM:613671] -synonym: "MRAMS" RELATED DEPRECATED [MONDO:Lexical, OMIM:613671] +synonym: "intellectual disability, anterior maxillary protrusion, and strabismus" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "mental retardation, anterior maxillary protrusion, and strabismus" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRAMS" RELATED DEPRECATED [MONDO:Lexical] xref: GARD:17997 {source="MONDO:GARD"} xref: MEDGEN:462274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613671 {source="MONDO:equivalentTo"} @@ -305810,10 +305863,10 @@ synonym: "autosomal recessive spastic ataxia - optic atrophy - dysarthria" RELAT synonym: "autosomal recessive spastic ataxia 4" RELATED [GARD:0010992] synonym: "autosomal recessive spastic ataxia caused by mutation in MTPAP" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic ataxia type 4" EXACT [Orphanet:254343] -synonym: "autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome" RELATED [Orphanet:254343] +synonym: "autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome" RELATED [] synonym: "MTPAP autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spastic ataxia 4, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613672] -synonym: "spastic ataxia type 4" EXACT [DOID:0050943, MONDORULE:1] +synonym: "spastic ataxia 4, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "spastic ataxia type 4" EXACT [MONDORULE:1] synonym: "SPAX4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613672, Orphanet:254343] xref: DOID:0050943 {source="MONDO:equivalentTo"} xref: GARD:10992 {source="MONDO:GARD"} @@ -305839,18 +305892,18 @@ subset: ordo_disorder {source="Orphanet:293825"} subset: orphanet_rare {source="Orphanet:293825"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anemia, congenital dyserythropoietic, type 4" RELATED [OMIM:613673] -synonym: "anemia, congenital dyserythropoietic, type IV" RELATED [MONDO:Lexical, OMIM:613673] -synonym: "CDA due to KLF1 mutation" EXACT [Orphanet:293825] -synonym: "CDA IV" EXACT [Orphanet:293825] -synonym: "CDA type 4" EXACT [Orphanet:293825] -synonym: "CDA type IV" EXACT [Orphanet:293825] -synonym: "CDA, type 4" RELATED [OMIM:613673] -synonym: "CDAN4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613673, Orphanet:293825] -synonym: "congenital dyserythropoietic anaemia due to KLF1 mutation" EXACT OMO:0003005 [] -synonym: "congenital dyserythropoietic anemia due to KLF1 mutation" EXACT [Orphanet:293825] -synonym: "congenital dyserythropoietic anemia type 4" EXACT [Orphanet:293825] -synonym: "dyserythropoietic anemia, congenital, type IV" EXACT [OMIM:613673, OMIM:genemap2] +synonym: "anemia, congenital dyserythropoietic, type 4" RELATED [] +synonym: "anemia, congenital dyserythropoietic, type IV" RELATED [MONDO:Lexical] +synonym: "CDA due to KLF1 mutation" EXACT [DOID:0111400, Orphanet:293825] +synonym: "CDA IV" EXACT ABBREVIATION [DOID:0111400, Orphanet:293825] +synonym: "CDA type 4" EXACT [DOID:0111400, Orphanet:293825] +synonym: "CDA type IV" EXACT [DOID:0111400, Orphanet:293825] +synonym: "CDA, type 4" RELATED [] +synonym: "CDAN4" EXACT ABBREVIATION [DOID:0111400, MONDO:Lexical, Orphanet:293825] +synonym: "congenital dyserythropoietic anaemia due to KLF1 mutation" EXACT OMO:0003005 [DOID:0111400] +synonym: "congenital dyserythropoietic anemia due to KLF1 mutation" EXACT [DOID:0111400, Orphanet:293825] +synonym: "congenital dyserythropoietic anemia type 4" EXACT [DOID:0111400, Orphanet:293825] +synonym: "dyserythropoietic anemia, congenital, type IV" EXACT [] xref: DOID:0111400 {source="MONDO:equivalentTo"} xref: GARD:17344 {source="MONDO:GARD"} xref: ICD10CM:D64.4 {source="Orphanet:293825", source="Orphanet:293825/attributed", source="Orphanet:293825/ntbt"} @@ -305875,8 +305928,8 @@ subset: rare synonym: "SOX17 vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "vesicoureteral reflux (disease) caused by mutation in SOX17" EXACT [] synonym: "vesicoureteral reflux 3" EXACT [MONDO:Lexical, OMIM:613674] -synonym: "vesicoureteral reflux type 3" EXACT [MONDORULE:1, OMIM:613674] -synonym: "VUR3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613674] +synonym: "vesicoureteral reflux type 3" EXACT [MONDORULE:1] +synonym: "VUR3" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18420 {source="MONDO:GARD"} xref: MEDGEN:462277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613674 {source="MONDO:equivalentTo"} @@ -305899,19 +305952,19 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:97685"} subset: orphanet_rare {source="Orphanet:137634"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "17q11 microdeletion syndrome" EXACT [DOID:0060403] -synonym: "chromosome 17q11.2 deletion syndrome" EXACT [GARD:0005408] +synonym: "17q11 microdeletion syndrome" EXACT [DOID:0060403, Orphanet:97685] +synonym: "chromosome 17q11.2 deletion syndrome" EXACT [DOID:0060403, GARD:0005408] synonym: "chromosome 17q11.2 deletion syndrome, 1.4-MB" EXACT [OMIM:613675] synonym: "Del(17)(q11)" EXACT [Orphanet:97685] -synonym: "macrocephaly, macrosomia, and facial dysmorphism syndrome" EXACT [MONDO:Lexical, OMIM:614192] -synonym: "MMFD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614192] +synonym: "macrocephaly, macrosomia, and facial dysmorphism syndrome" EXACT [MONDO:Lexical] +synonym: "MMFD" EXACT ABBREVIATION [MONDO:Lexical] synonym: "monosomy 17q11" EXACT [Orphanet:97685] synonym: "neurofibromatosis 1 microdeletion syndrome" EXACT [OMIM:613675] synonym: "neurofibromatosis type 1 microdeletion syndrome" EXACT [DOID:0060403, Orphanet:97685] synonym: "NF1 microdeletion syndrome" EXACT [DOID:0060403, OMIM:613675, Orphanet:97685] -synonym: "NF1 microduplication syndrome" EXACT [OMIM:613675] -synonym: "overgrowth-macrocephaly-facial dysmorphism syndrome" EXACT [MONDO:0013617] -synonym: "RNF135-related overgrowth syndrome" EXACT [Orphanet:137634] +synonym: "NF1 microduplication syndrome" EXACT [] +synonym: "overgrowth-macrocephaly-facial dysmorphism syndrome" EXACT [MONDO:0013617, Orphanet:137634] +synonym: "RNF135-related overgrowth syndrome" EXACT [] synonym: "Van Asperen syndrome" EXACT [DOID:0060403, OMIM:613675] xref: DOID:0060403 {source="MONDO:equivalentTo"} xref: GARD:5408 {source="MONDO:GARD"} @@ -305943,9 +305996,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CENPJ Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL4" EXACT ABBREVIATION [DOID:0070010, MONDO:Lexical, OMIM:613676] -synonym: "Seckel syndrome 4" EXACT [MONDO:Lexical, OMIM:613676] +synonym: "Seckel syndrome 4" EXACT [DOID:0070010, MONDO:Lexical, OMIM:613676] synonym: "Seckel syndrome caused by mutation in CENPJ" EXACT [MONDO:design_pattern] -synonym: "Seckel syndrome type 4" EXACT [MONDORULE:1, OMIM:613676] +synonym: "Seckel syndrome type 4" EXACT [MONDORULE:1] xref: DOID:0070010 {source="MONDO:equivalentTo"} xref: GARD:15687 {source="MONDO:GARD"} xref: MEDGEN:854819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -305970,13 +306023,13 @@ subset: orphanet_rare {source="Orphanet:251274"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial hyperaldosteronism type 3" EXACT [Orphanet:251274] -synonym: "FH 3" RELATED [OMIM:613677] +synonym: "FH 3" RELATED [] synonym: "FH III" RELATED [GARD:0012362] -synonym: "FH-III" EXACT [Orphanet:251274] +synonym: "FH-III" EXACT ABBREVIATION [Orphanet:251274] synonym: "FH3" EXACT ABBREVIATION [Orphanet:251274] -synonym: "HALD3" RELATED ABBREVIATION [OMIM:613677] -synonym: "hyperaldosteronism, familial, type 3" RELATED [OMIM:613677] -synonym: "hyperaldosteronism, familial, type III" RELATED [OMIM:613677] +synonym: "HALD3" RELATED ABBREVIATION [] +synonym: "hyperaldosteronism, familial, type 3" RELATED [] +synonym: "hyperaldosteronism, familial, type III" RELATED [] xref: GARD:12362 {source="MONDO:GARD"} xref: ICD10CM:E26.0 {source="Orphanet:251274", source="Orphanet:251274/attributed", source="Orphanet:251274/ntbt"} xref: MEDGEN:824604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -305998,9 +306051,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:93302"} subset: orphanet_rare {source="Orphanet:93302"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BCYM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613678] +synonym: "BCYM2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "brachyolmia type 2" EXACT [MONDO:Lexical, OMIM:613678, Orphanet:93302] -synonym: "brachyolmia, Maroteaux type" EXACT [OMIM:613678] +synonym: "brachyolmia, Maroteaux type" EXACT [OMIM:613678, Orphanet:93302] xref: GARD:16816 {source="MONDO:GARD"} xref: ICD10CM:Q76.3 {source="Orphanet:93302", source="Orphanet:93302/attributed", source="Orphanet:93302/ntbt"} xref: MEDGEN:1777254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -306021,15 +306074,15 @@ subset: ordo_disorder {source="Orphanet:325"} subset: orphanet_rare {source="Orphanet:325"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital factor II deficiency" RELATED [Orphanet:325] +synonym: "congenital factor II deficiency" RELATED [] synonym: "congenital prothrombin deficiency" EXACT CLINGEN_LABEL [] -synonym: "Dysprothrombinemia" EXACT [OMIM:613679, Orphanet:325] +synonym: "Dysprothrombinemia" EXACT [Orphanet:325] synonym: "factor 2 deficiency" BROAD [GARD:0002235] -synonym: "factor II deficiency" BROAD [DOID:2235, NCIT:C26799] +synonym: "factor II deficiency" BROAD [] synonym: "hereditary prothrombin deficiency" EXACT [MONDO:patterns/hereditary] -synonym: "hypoprothrombinemia" BROAD [DOID:2235, OMIM:613679, Orphanet:325] -synonym: "prothrombin deficiency" BROAD [OMIM:613679, OMIM:genemap2, Orphanet:325] -synonym: "prothrombin deficiency, congenital" RELATED [OMIM:613679] +synonym: "hypoprothrombinemia" BROAD [] +synonym: "prothrombin deficiency" BROAD [] +synonym: "prothrombin deficiency, congenital" RELATED [] xref: DOID:2235 {source="MONDO:equivalentTo"} xref: GARD:2926 {source="MONDO:GARD"} xref: ICD10CM:D68.2 {source="Orphanet:325/attributed", source="Orphanet:325/ntbt", source="Orphanet:325"} @@ -306066,10 +306119,10 @@ subset: orphanet_rare {source="Orphanet:363444"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BBIS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613680, Orphanet:363444] -synonym: "BEAULIEU-BOYCOTT-Innes syndrome" RELATED [MONDO:Lexical, OMIM:613680] -synonym: "Beaulieu-Boycott-Innes syndrome" EXACT [Orphanet:363444] -synonym: "microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations" RELATED [OMIM:613680] -synonym: "microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations" RELATED DEPRECATED [OMIM:613680] +synonym: "BEAULIEU-BOYCOTT-Innes syndrome" RELATED [MONDO:Lexical] +synonym: "Beaulieu-Boycott-Innes syndrome" EXACT [OMIM:613680, Orphanet:363444] +synonym: "microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations" RELATED [] +synonym: "microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations" RELATED DEPRECATED [] xref: GARD:17558 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:363444", source="Orphanet:363444/attributed", source="Orphanet:363444/ntbt"} xref: MEDGEN:462289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -306091,10 +306144,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:294026"} subset: orphanet_rare {source="Orphanet:294026"} subset: rare synonym: "2q31.1 microduplication syndrome" EXACT [MONDO:0017412] -synonym: "chromosome 2q31.1 duplication syndrome" EXACT [OMIM:613681] -synonym: "dup(2)(q31.1)" EXACT [Orphanet:294026] -synonym: "mesomelic dysplasia, 2Q31.1 Duplication-related" RELATED [OMIM:613681] -synonym: "trisomy 2q31.1" EXACT [Orphanet:294026] +synonym: "chromosome 2q31.1 duplication syndrome" EXACT [DOID:0060458, OMIM:613681] +synonym: "dup(2)(q31.1)" EXACT [] +synonym: "mesomelic dysplasia, 2Q31.1 Duplication-related" RELATED [] +synonym: "trisomy 2q31.1" EXACT [] xref: DOID:0060458 {source="MONDO:equivalentTo"} xref: GARD:15688 {source="MONDO:GARD"} xref: MEDGEN:462290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -306121,11 +306174,11 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:353284"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "EP300 Rubinstein-Taybi syndrome" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "RSTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613684] -synonym: "Rubinstein-Taybi syndrome 2" RELATED [MONDO:Lexical, OMIM:613684] +synonym: "RSTS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Rubinstein-Taybi syndrome 2" RELATED [MONDO:Lexical] synonym: "Rubinstein-Taybi syndrome caused by mutation in EP300" EXACT [] -synonym: "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" EXACT CLINGEN_LABEL [] -synonym: "Rubinstein-Taybi syndrome type 2" EXACT [MONDORULE:1, OMIM:613684] +synonym: "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" EXACT CLINGEN_LABEL [Orphanet:353284] +synonym: "Rubinstein-Taybi syndrome type 2" EXACT [MONDORULE:1, NCIT:C153291] xref: GARD:17535 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:353284/attributed", source="Orphanet:353284/ntbt", source="Orphanet:353284"} xref: MEDGEN:462291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -306149,11 +306202,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22637", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 83" NARROW [DOID:0110528] -synonym: "autosomal recessive nonsyndromic deafness 83" NARROW [OMIM:613685] -synonym: "autosomal recessive nonsyndromic deafness type 83" NARROW [DOID:0110528, MONDORULE:2] -synonym: "deafness, autosomal recessive 83" NARROW [MONDO:Lexical, OMIM:613685, OMIM:genemap2] -synonym: "DFNB83" NARROW ABBREVIATION [DOID:0110528, MONDO:Lexical, OMIM:613685] +synonym: "autosomal recessive deafness 83" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 83" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 83" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 83" NARROW [MONDO:Lexical] +synonym: "DFNB83" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110528 {source="MONDO:equivalentTo"} xref: GARD:22637 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110528"} @@ -306175,7 +306228,7 @@ synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in HE synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in Hes7" EXACT [MONDO:design_pattern] synonym: "HES7 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Hes7 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:design_pattern] -synonym: "SCDO4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613686] +synonym: "SCDO4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "spondylocostal dysostosis 4" RELATED [GARD:0004976] synonym: "spondylocostal dysostosis 4, autosomal recessive" EXACT [MONDO:Lexical, OMIM:613686] xref: DOID:0112364 {source="MONDO:equivalentTo"} @@ -306198,15 +306251,15 @@ name: long QT syndrome 2 def: "An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death." [NCIT:C137957] subset: gard_rare {source="GARD:3285", source="MONDO:GARD"} subset: rare -synonym: "long QT syndrome 1/2, digenic" RELATED [OMIM:613688] -synonym: "long QT syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613688] -synonym: "long QT syndrome 2, acquired, susceptibility to" RELATED [OMIM:613688] -synonym: "long QT syndrome 2/3, digenic" RELATED [OMIM:613688] -synonym: "long QT syndrome 2/5, digenic" RELATED [OMIM:613688] -synonym: "long QT syndrome 2/9, digenic" RELATED [OMIM:613688] -synonym: "long QT syndrome type 2" EXACT [DOID:0110645, MONDORULE:1, OMIM:613688] -synonym: "Long QT syndrome, acquired, reduced susceptibility to" EXACT [OMIM:613688, OMIM:genemap2] -synonym: "LQT2" EXACT ABBREVIATION [DOID:0110645, MONDO:Lexical, OMIM:613688] +synonym: "long QT syndrome 1/2, digenic" RELATED [] +synonym: "long QT syndrome 2" EXACT CLINGEN_LABEL [DOID:0110645, MONDO:Lexical, NCIT:C137957, OMIM:613688] +synonym: "long QT syndrome 2, acquired, susceptibility to" RELATED [] +synonym: "long QT syndrome 2/3, digenic" RELATED [] +synonym: "long QT syndrome 2/5, digenic" RELATED [] +synonym: "long QT syndrome 2/9, digenic" RELATED [] +synonym: "long QT syndrome type 2" EXACT [MONDORULE:1] +synonym: "Long QT syndrome, acquired, reduced susceptibility to" EXACT [] +synonym: "LQT2" EXACT ABBREVIATION [DOID:0110645, MONDO:Lexical, NCIT:C137957, OMIM:613688] xref: DOID:0110645 {source="MONDO:equivalentTo"} xref: GARD:3285 {source="MONDO:GARD"} xref: HGNC:6251 {source="GARD:0003285"} @@ -306236,9 +306289,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:238744"} subset: orphanet_rare {source="Orphanet:238744"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mammary-digital-nail syndrome" EXACT [MONDO:Lexical, OMIM:613689] +synonym: "mammary-digital-nail syndrome" EXACT [MONDO:Lexical, OMIM:613689, Orphanet:238744] synonym: "MDN syndrome" EXACT [Orphanet:238744] -synonym: "MDNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613689] +synonym: "MDNS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "onycho-digito-mammary syndrome" EXACT [Orphanet:238744] xref: GARD:17180 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:238744/attributed", source="Orphanet:238744/ntbt", source="Orphanet:238744"} @@ -306261,13 +306314,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy, familial hypertrophic 7" EXACT [DOID:0110313] -synonym: "cardiomyopathy, familial hypertrophic, 7" RELATED [MONDO:Lexical, OMIM:613690] -synonym: "cardiomyopathy, familial hypertrophic, type 7" EXACT [MONDORULE:1, OMIM:613690] -synonym: "cardiomyopathy, hypertrophic, 7" EXACT [OMIM:613690, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 7" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 7" EXACT [MONDORULE:1] +synonym: "cardiomyopathy, hypertrophic, 7" EXACT [] synonym: "CMH7" EXACT ABBREVIATION [DOID:0110313, MONDO:Lexical, OMIM:613690] -synonym: "hypertrophic cardiomyopathy 7" EXACT CLINGEN_LABEL [] +synonym: "hypertrophic cardiomyopathy 7" EXACT CLINGEN_LABEL [DOID:0110313] synonym: "hypertrophic cardiomyopathy caused by mutation in TNNI3" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 7" EXACT [DOID:0110313, MONDORULE:1] +synonym: "hypertrophic cardiomyopathy type 7" EXACT [MONDORULE:1] synonym: "TNNI3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110313 {source="MONDO:equivalentTo"} xref: MEDGEN:348695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -306288,11 +306341,11 @@ def: "Any long QT syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:10434", source="MONDO:GARD"} subset: rare synonym: "KCNE2 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "long QT syndrome 3/6, digenic" RELATED [OMIM:613693] -synonym: "long QT syndrome 6" EXACT [MONDO:Lexical, OMIM:613693] -synonym: "long QT syndrome 6, acquired, susceptibility to" RELATED [OMIM:613693] +synonym: "long QT syndrome 3/6, digenic" RELATED [] +synonym: "long QT syndrome 6" EXACT [DOID:0110648, MONDO:Lexical, OMIM:613693] +synonym: "long QT syndrome 6, acquired, susceptibility to" RELATED [] synonym: "long QT syndrome caused by mutation in KCNE2" EXACT [MONDO:design_pattern] -synonym: "long QT syndrome type 6" EXACT [DOID:0110648, MONDORULE:1, OMIM:613693] +synonym: "long QT syndrome type 6" EXACT [MONDORULE:1] synonym: "LQT6" EXACT ABBREVIATION [DOID:0110648, MONDO:Lexical, OMIM:613693] xref: DOID:0110648 {source="MONDO:equivalentTo"} xref: GARD:10434 {source="MONDO:GARD"} @@ -306318,10 +306371,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15689", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1U" RELATED [MONDO:Lexical, OMIM:613694] -synonym: "cardiomyopathy, dilated, type 1U" EXACT [MONDORULE:4, OMIM:613694] +synonym: "cardiomyopathy, dilated, 1U" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1U" EXACT [MONDORULE:4] synonym: "CMD1U" EXACT ABBREVIATION [DOID:0110455, MONDO:Lexical, OMIM:613694] -synonym: "dilated cardiomyopathy type 1U" EXACT [DOID:0110455, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1U" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in PSEN1" EXACT [MONDO:design_pattern] synonym: "PSEN1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110455 {source="MONDO:equivalentTo"} @@ -306345,12 +306398,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "KCNE1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "long QT syndrome 2/5, digenic" RELATED [OMIM:613695] -synonym: "long QT syndrome 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613695] -synonym: "long QT syndrome 5, acquired, susceptibility to" RELATED [OMIM:613695] +synonym: "long QT syndrome 2/5, digenic" RELATED [] +synonym: "long QT syndrome 5" EXACT CLINGEN_LABEL [DOID:0110647, MONDO:Lexical, NCIT:C172094, OMIM:613695] +synonym: "long QT syndrome 5, acquired, susceptibility to" RELATED [] synonym: "long QT syndrome caused by mutation in KCNE1" EXACT [MONDO:design_pattern] -synonym: "long QT syndrome type 5" EXACT [DOID:0110647, MONDORULE:1, OMIM:613695] -synonym: "LQT5" EXACT ABBREVIATION [DOID:0110647, MONDO:Lexical, OMIM:613695] +synonym: "long QT syndrome type 5" EXACT [MONDORULE:1] +synonym: "LQT5" EXACT ABBREVIATION [DOID:0110647, MONDO:Lexical, NCIT:C172094, OMIM:613695] xref: DOID:0110647 {source="MONDO:equivalentTo"} xref: GARD:10433 {source="MONDO:GARD"} xref: HGNC:6240 {source="GARD:0010433"} @@ -306377,10 +306430,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15690", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1V" RELATED [MONDO:Lexical, OMIM:613697] -synonym: "cardiomyopathy, dilated, type 1V" EXACT [MONDORULE:4, OMIM:613697] +synonym: "cardiomyopathy, dilated, 1V" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1V" EXACT [MONDORULE:4] synonym: "CMD1V" EXACT ABBREVIATION [DOID:0110427, MONDO:Lexical, OMIM:613697] -synonym: "dilated cardiomyopathy type 1V" EXACT [DOID:0110427, MONDORULE:4] +synonym: "dilated cardiomyopathy type 1V" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in PSEN2" EXACT [MONDO:design_pattern] synonym: "PSEN2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110427 {source="MONDO:equivalentTo"} @@ -306396,8 +306449,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013374 name: supernumerary der(22)t(8;22) syndrome -synonym: "supernumerary der(22)t(8-22) syndrome" EXACT [OMIM:613700, OMIM:genemap2] -synonym: "supernumerary der(22)t(8;22) syndrome" EXACT [OMIM:613700] +synonym: "supernumerary der(22)t(8-22) syndrome" EXACT [] +synonym: "supernumerary der(22)t(8;22) syndrome" EXACT [] xref: OMIM:613700 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -306411,8 +306464,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GDF3 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated Klippel-Feil syndrome caused by mutation in GDF3" EXACT [MONDO:design_pattern] -synonym: "KFS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613702] -synonym: "Klippel-FEIL syndrome 3, autosomal dominant" RELATED [OMIM:613702] +synonym: "KFS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Klippel-FEIL syndrome 3, autosomal dominant" RELATED [] synonym: "Klippel-Feil syndrome 3, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613702] xref: DOID:0080591 {source="MONDO:equivalentTo"} xref: GARD:15691 {source="MONDO:GARD"} @@ -306430,11 +306483,11 @@ name: microphthalmia, isolated, with coloboma 6 subset: gard_rare {source="GARD:15692", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCOPCB6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613703] -synonym: "microphthalmia with coloboma 6" EXACT [OMIM:613703, OMIM:genemap2] -synonym: "microphthalmia with coloboma 6, digenic" EXACT [OMIM:613703, OMIM:genemap2] -synonym: "microphthalmia, isolated, with coloboma 6" EXACT [MONDO:Lexical, OMIM:613703] -synonym: "microphthalmia, isolated, with coloboma type 6" EXACT [MONDORULE:1, OMIM:613703] +synonym: "MCOPCB6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microphthalmia with coloboma 6" EXACT [] +synonym: "microphthalmia with coloboma 6, digenic" EXACT [] +synonym: "microphthalmia, isolated, with coloboma 6" EXACT [MONDO:Lexical] +synonym: "microphthalmia, isolated, with coloboma type 6" EXACT [MONDORULE:1] xref: GARD:15692 {source="MONDO:GARD"} xref: MEDGEN:462318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613703 {source="MONDO:equivalentTo"} @@ -306452,10 +306505,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GDF3 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated microphthalmia caused by mutation in GDF3" EXACT [MONDO:design_pattern] -synonym: "isolated microphthalmia type 7" EXACT [DOID:0060838, MONDORULE:1] +synonym: "isolated microphthalmia type 7" EXACT [MONDORULE:1] synonym: "MCOP7" EXACT ABBREVIATION [DOID:0060838, MONDO:Lexical, OMIM:613704] -synonym: "microphthalmia, isolated 7" RELATED [MONDO:Lexical, OMIM:613704] -synonym: "microphthalmia, isolated type 7" EXACT [MONDORULE:1, OMIM:613704] +synonym: "microphthalmia, isolated 7" RELATED [MONDO:Lexical] +synonym: "microphthalmia, isolated type 7" EXACT [MONDORULE:1] xref: DOID:0060838 {source="MONDO:equivalentTo"} xref: ICD10CM:Q11.0 {source="DOID:0060838"} xref: MEDGEN:462319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -306474,12 +306527,12 @@ name: orofacial cleft 10 def: "Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18306", source="MONDO:GARD"} subset: rare -synonym: "cleft lip with or without cleft palate, nonsyndromic, 10" RELATED [OMIM:613705] -synonym: "OFC10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613705] -synonym: "orofacial cleft 10" EXACT [MONDO:Lexical, OMIM:613705] -synonym: "orofacial cleft 10, isolated cases" EXACT [OMIM:613705, OMIM:genemap2] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 10" RELATED [] +synonym: "OFC10" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "orofacial cleft 10" EXACT [DOID:0080403, MONDO:Lexical, OMIM:613705] +synonym: "orofacial cleft 10, isolated cases" EXACT [] synonym: "orofacial cleft caused by mutation in SUMO1" EXACT [MONDO:design_pattern] -synonym: "orofacial cleft type 10" EXACT [MONDORULE:2, OMIM:613705] +synonym: "orofacial cleft type 10" EXACT [MONDORULE:2] synonym: "SUMO1 orofacial cleft" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080403 {source="MONDO:equivalentTo"} xref: GARD:18306 {source="MONDO:GARD"} @@ -306504,10 +306557,10 @@ subset: gard_rare {source="GARD:15693", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BRAF Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Noonan syndrome 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613706] +synonym: "Noonan syndrome 7" EXACT CLINGEN_LABEL [DOID:0060585, MONDO:Lexical, NCIT:C176935, OMIM:613706] synonym: "Noonan syndrome caused by mutation in BRAF" EXACT [MONDO:design_pattern] -synonym: "Noonan syndrome type 7" EXACT [DOID:0060585, MONDORULE:1, OMIM:613706] -synonym: "NS7" EXACT ABBREVIATION [DOID:0060585, MONDO:Lexical, OMIM:613706] +synonym: "Noonan syndrome type 7" EXACT [MONDORULE:1] +synonym: "NS7" EXACT ABBREVIATION [DOID:0060585, MONDO:Lexical, NCIT:C176935, OMIM:613706] xref: DOID:0060585 {source="MONDO:equivalentTo"} xref: GARD:15693 {source="MONDO:GARD"} xref: MEDGEN:462320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -306528,10 +306581,10 @@ subset: gard_rare {source="GARD:15694", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BRAF Noonan syndrome with multiple lentigines" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LEOPARD syndrome 3" EXACT CLINGEN_LABEL [OMIM:613707] -synonym: "leopard syndrome 3" EXACT [MONDO:Lexical, OMIM:613707] -synonym: "Leopard syndrome type 3" EXACT [MONDORULE:1, OMIM:613707] -synonym: "LPRD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613707] +synonym: "LEOPARD syndrome 3" EXACT CLINGEN_LABEL [DOID:0080550, OMIM:613707] +synonym: "leopard syndrome 3" EXACT [DOID:0080550, MONDO:Lexical, OMIM:613707] +synonym: "Leopard syndrome type 3" EXACT [MONDORULE:1] +synonym: "LPRD3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Noonan syndrome with multiple lentigines caused by mutation in BRAF" EXACT [MONDO:design_pattern] xref: DOID:0080550 {source="MONDO:equivalentTo"} xref: GARD:15694 {source="MONDO:GARD"} @@ -306553,10 +306606,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15695", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hereditary sensory neuropathy type 1D" RELATED [DOID:0070156] -synonym: "hereditary sensory neuropathy type ID" RELATED [DOID:0070156] +synonym: "hereditary sensory neuropathy type 1D" RELATED [] +synonym: "hereditary sensory neuropathy type ID" RELATED [] synonym: "HSN1D" EXACT ABBREVIATION [DOID:0070156, MONDO:Lexical, OMIM:613708] -synonym: "neuropathy, hereditary sensory, type ID" RELATED [MONDO:Lexical, OMIM:613708] +synonym: "neuropathy, hereditary sensory, type ID" RELATED [MONDO:Lexical] xref: DOID:0070156 {source="MONDO:equivalentTo"} xref: GARD:15695 {source="MONDO:GARD"} xref: MEDGEN:462322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -306577,12 +306630,12 @@ subset: ordo_disorder {source="Orphanet:217396"} subset: orphanet_rare {source="Orphanet:217396"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bilateral striatal Degeneration and progressive polyneuropathy" RELATED [OMIM:613710] -synonym: "progressive polyneuropathy with bilateral striatal necrosis" RELATED [Orphanet:217396] -synonym: "striatal Necrosis, bilateral, and progressive polyneuropathy" RELATED [OMIM:613710] -synonym: "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)" RELATED [MONDO:Lexical, OMIM:613710] -synonym: "thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)" EXACT [OMIM:613710, OMIM:genemap2] -synonym: "THMD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613710] +synonym: "bilateral striatal Degeneration and progressive polyneuropathy" RELATED [] +synonym: "progressive polyneuropathy with bilateral striatal necrosis" RELATED [] +synonym: "striatal Necrosis, bilateral, and progressive polyneuropathy" RELATED [] +synonym: "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)" RELATED [MONDO:Lexical] +synonym: "thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)" EXACT [] +synonym: "THMD4" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17123 {source="MONDO:GARD"} xref: MEDGEN:462323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613710 {source="Orphanet:217396/e", source="MONDO:equivalentTo", source="Orphanet:217396"} @@ -306602,9 +306655,9 @@ synonym: "Hirschsprung disease caused by mutation in GDNF" EXACT [MONDO:design_p synonym: "Hirschsprung disease modifier" RELATED [GARD:0002699] synonym: "Hirschsprung disease type 3" RELATED [GARD:0002699] synonym: "Hirschsprung disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613711] -synonym: "Hirschsprung disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613711] -synonym: "HSCR3" RELATED ABBREVIATION [GARD:0002699, MONDO:Lexical, OMIM:613711] -synonym: "susceptibility to Hirschsprung disease 3" RELATED [OMIM:613711] +synonym: "Hirschsprung disease, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "HSCR3" RELATED ABBREVIATION [GARD:0002699, MONDO:Lexical] +synonym: "susceptibility to Hirschsprung disease 3" RELATED [] xref: MEDGEN:462324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538121 {source="MONDO:equivalentTo"} xref: OMIM:613711 {source="MONDO:equivalentTo"} @@ -306624,9 +306677,9 @@ subset: predisposition synonym: "EDN3 Hirschsprung disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hirschsprung disease caused by mutation in EDN3" EXACT [MONDO:design_pattern] synonym: "Hirschsprung disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:613712] -synonym: "Hirschsprung disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:613712] -synonym: "HSCR4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613712] -synonym: "susceptibility to Hirschsprung disease 4" RELATED [OMIM:613712] +synonym: "Hirschsprung disease, susceptibility to, type 4" EXACT [MONDORULE:1] +synonym: "HSCR4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to Hirschsprung disease 4" RELATED [] xref: MEDGEN:462325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613712 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:613712"} @@ -306644,10 +306697,10 @@ subset: gard_rare {source="GARD:15698", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "POLR1D Treacher-Collins syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "TCS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613717] -synonym: "TREACHER COLLINS syndrome 2" RELATED [OMIM:613717] -synonym: "Treacher Collins syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613717] -synonym: "Treacher Collins syndrome type 2" EXACT [MONDORULE:1, OMIM:613717] +synonym: "TCS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "TREACHER COLLINS syndrome 2" RELATED [] +synonym: "Treacher Collins syndrome 2" EXACT CLINGEN_LABEL [DOID:0080790, MONDO:Lexical, OMIM:613717] +synonym: "Treacher Collins syndrome type 2" EXACT [MONDORULE:1] synonym: "Treacher-Collins syndrome caused by mutation in POLR1D" EXACT [MONDO:design_pattern] xref: DOID:0080790 {source="MONDO:equivalentTo"} xref: GARD:15698 {source="MONDO:GARD"} @@ -306669,13 +306722,13 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22638", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 74" NARROW [DOID:0110523] -synonym: "autosomal recessive nonsyndromic deafness 74" NARROW [OMIM:613718] +synonym: "autosomal recessive deafness 74" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 74" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MSRB3" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 74" NARROW [DOID:0110523, MONDORULE:2] -synonym: "deafness, autosomal recessive 74" NARROW [MONDO:Lexical, OMIM:613718, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 74" NARROW [MONDORULE:2, OMIM:613718] -synonym: "DFNB74" NARROW ABBREVIATION [DOID:0110523, MONDO:Lexical, OMIM:613718] +synonym: "autosomal recessive nonsyndromic deafness type 74" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 74" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 74" NARROW [MONDORULE:2] +synonym: "DFNB74" NARROW ABBREVIATION [MONDO:Lexical] synonym: "MSRB3 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110523 {source="MONDO:equivalentTo"} xref: GARD:22638 {source="MONDO:GARD"} @@ -306701,14 +306754,14 @@ subset: ordo_disorder {source="Orphanet:439218"} subset: orphanet_rare {source="Orphanet:439218"} subset: rare synonym: "DEE7" EXACT ABBREVIATION [OMIM:613720] -synonym: "developmental and epileptic encephalopathy 7" EXACT [OMIM:613720, OMIM:genemap2] -synonym: "EIEE7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613720] +synonym: "developmental and epileptic encephalopathy 7" EXACT [DOID:0080462, OMIM:613720] +synonym: "EIEE7" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 7" EXACT [MONDO:Lexical, OMIM:613720] -synonym: "epileptic encephalopathy, early infantile, type 7" EXACT [MONDORULE:1, OMIM:613720] -synonym: "KCNQ2-NEE" EXACT [Orphanet:439218] +synonym: "epileptic encephalopathy, early infantile, type 7" EXACT [MONDORULE:1] +synonym: "KCNQ2-NEE" EXACT ABBREVIATION [Orphanet:439218] synonym: "KCNQ2-related disorders" RELATED [GARD:0013060] -synonym: "KCNQ2-related epileptic encephalopathy" EXACT [Orphanet:439218] -synonym: "KCNQ2-related neonatal epileptic encephalopathy" EXACT [Orphanet:439218] +synonym: "KCNQ2-related epileptic encephalopathy" EXACT [DOID:0080462, Orphanet:439218] +synonym: "KCNQ2-related neonatal epileptic encephalopathy" EXACT [DOID:0080462, Orphanet:439218] xref: DOID:0080462 {source="MONDO:equivalentTo"} xref: GARD:13060 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:439218", source="Orphanet:439218/attributed", source="Orphanet:439218/ntbt"} @@ -306727,12 +306780,12 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:15699", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE11" EXACT ABBREVIATION [OMIM:613721] -synonym: "developmental and epileptic encephalopathy 11" EXACT [OMIM:613721, OMIM:genemap2] +synonym: "DEE11" EXACT ABBREVIATION [DOID:0080421, OMIM:613721] +synonym: "developmental and epileptic encephalopathy 11" EXACT [DOID:0080421, OMIM:613721] synonym: "early infantile epileptic encephalopathy caused by mutation in SCN2A" EXACT [MONDO:design_pattern] -synonym: "EIEE11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613721] +synonym: "EIEE11" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 11" EXACT [MONDO:Lexical, OMIM:613721] -synonym: "epileptic encephalopathy, early infantile, type 11" EXACT [MONDORULE:2, OMIM:613721] +synonym: "epileptic encephalopathy, early infantile, type 11" EXACT [MONDORULE:2] synonym: "SCN2A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080421 {source="MONDO:equivalentTo"} xref: GARD:15699 {source="MONDO:GARD"} @@ -306753,14 +306806,14 @@ subset: gard_rare {source="GARD:13318", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE12" EXACT ABBREVIATION [OMIM:613722] -synonym: "developmental and epileptic encephalopathy 12" EXACT [OMIM:613722, OMIM:genemap2] +synonym: "DEE12" EXACT ABBREVIATION [DOID:0080459, OMIM:613722] +synonym: "developmental and epileptic encephalopathy 12" EXACT [DOID:0080459, OMIM:613722] synonym: "developmental and epileptic encephalopathy, 12" EXACT CLINGEN_LABEL [] -synonym: "early infantile epileptic encephalopathy 12" EXACT [GARD:0013318] +synonym: "early infantile epileptic encephalopathy 12" EXACT [DOID:0080459, GARD:0013318] synonym: "early infantile epileptic encephalopathy caused by mutation in PLCB1" EXACT [MONDO:design_pattern] -synonym: "EIEE12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613722] +synonym: "EIEE12" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 12" EXACT [MONDO:Lexical, OMIM:613722] -synonym: "epileptic encephalopathy, early infantile, type 12" EXACT [MONDORULE:2, OMIM:613722] +synonym: "epileptic encephalopathy, early infantile, type 12" EXACT [MONDORULE:2] synonym: "PLCB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080459 {source="MONDO:equivalentTo"} xref: GARD:13318 {source="MONDO:GARD"} @@ -306788,10 +306841,10 @@ subset: ordo_disorder {source="Orphanet:254361"} subset: orphanet_rare {source="Orphanet:254361"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" EXACT [DOID:0110285, Orphanet:254361] -synonym: "LGMD2Q" EXACT ABBREVIATION [DOID:0110285, MONDO:Lexical, OMIM:613723, Orphanet:254361] +synonym: "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" EXACT [DOID:0110285] +synonym: "LGMD2Q" EXACT ABBREVIATION [DOID:0110285, MONDO:Lexical, Orphanet:254361] synonym: "limb-girdle muscular dystrophy type 2Q" RELATED [GARD:0012542] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 17" EXACT [OMIM:613723, OMIM:genemap2] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 17" EXACT [OMIM:613723] synonym: "muscular dystrophy, limb-girdle, type 2Q" EXACT [DOID:0110285, MONDO:Lexical, OMIM:613723] xref: DOID:0110285 {source="MONDO:equivalentTo"} xref: GARD:12542 {source="MONDO:GARD"} @@ -306817,11 +306870,11 @@ subset: orphanet_rare {source="Orphanet:163684"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "leukoencephalopathy - dystonia - motor neuropathy" RELATED [GARD:0012471] -synonym: "leukoencephalopathy with dystonia and motor neuropathy" RELATED [OMIM:613724] +synonym: "leukoencephalopathy with dystonia and motor neuropathy" RELATED [] synonym: "leukoencephalopathy-dystonia-motor neuropathy syndrome" EXACT [Orphanet:163684] -synonym: "LKDMN" RELATED ABBREVIATION [OMIM:613724] -synonym: "SCP2 deficiency" EXACT [OMIM:613724] -synonym: "sterol carrier protein 2 deficiency" EXACT CLINGEN_LABEL [Orphanet:163684] +synonym: "LKDMN" RELATED ABBREVIATION [] +synonym: "SCP2 deficiency" EXACT [] +synonym: "sterol carrier protein 2 deficiency" EXACT CLINGEN_LABEL [OMIM:613724] xref: GARD:12471 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:163684", source="Orphanet:163684/attributed", source="Orphanet:163684/ntbt"} xref: MEDGEN:462340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -306844,13 +306897,13 @@ subset: ordo_disorder {source="Orphanet:284289"} subset: orphanet_rare {source="Orphanet:284289"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult-onset autosomal recessive cerebellar ataxia" RELATED [Orphanet:284289] +synonym: "adult-onset autosomal recessive cerebellar ataxia" RELATED [] synonym: "ANO10 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive cerebellar ataxia caused by mutation in ANO10" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive spinocerebellar ataxia type 10" EXACT [DOID:0050999, MONDORULE:2, Orphanet:284289] +synonym: "autosomal recessive spinocerebellar ataxia type 10" EXACT [MONDORULE:2, Orphanet:284289] synonym: "SCAR10" EXACT ABBREVIATION [DOID:0050999, MONDO:Lexical, OMIM:613728, Orphanet:284289] -synonym: "spinocerebellar ataxia, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:613728] -synonym: "spinocerebellar ataxia, autosomal recessive type 10" EXACT [MONDORULE:2, OMIM:613728] +synonym: "spinocerebellar ataxia, autosomal recessive 10" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 10" EXACT [MONDORULE:2] xref: DOID:0050999 {source="MONDO:equivalentTo"} xref: GARD:17314 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:284289", source="Orphanet:284289/attributed", source="Orphanet:284289/ntbt"} @@ -306874,9 +306927,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:254351"} subset: orphanet_rare {source="Orphanet:254351"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2-MB" RELATED [OMIM:613729] -synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2mb" EXACT [OMIM:613729, OMIM:genemap2] -synonym: "distal chromosome 7Q11.23 deletion syndrome" RELATED [OMIM:613729] +synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2-MB" RELATED [] +synonym: "chromosome 7q11.23 deletion syndrome, distal, 1.2mb" EXACT [] +synonym: "distal chromosome 7Q11.23 deletion syndrome" RELATED [] synonym: "distal del(7)(q11.23)" EXACT [Orphanet:254351] synonym: "distal monosomy 7q11.23" EXACT [Orphanet:254351] xref: GARD:17218 {source="MONDO:GARD"} @@ -306902,9 +306955,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:306547"} subset: orphanet_rare {source="Orphanet:306547"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HDBSCC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613730] -synonym: "hemorrhagic destruction of the brain, subependymal calcification, and cataracts" RELATED [MONDO:Lexical, OMIM:613730] -synonym: "porencephaly-microcephaly-bilateral congenital cataract syndrome" EXACT CLINGEN_LABEL [] +synonym: "HDBSCC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hemorrhagic destruction of the brain, subependymal calcification, and cataracts" RELATED [MONDO:Lexical] +synonym: "porencephaly-microcephaly-bilateral congenital cataract syndrome" EXACT CLINGEN_LABEL [Orphanet:306547] xref: GARD:17380 {source="MONDO:GARD"} xref: MEDGEN:462350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613730 {source="Orphanet:306547", source="MONDO:equivalentTo", source="Orphanet:306547/e"} @@ -306920,11 +306973,11 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:10405", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 4" EXACT [MONDO:Lexical, OMIM:613731] -synonym: "retinitis pigmentosa 4, autosomal dominant or recessive" EXACT [OMIM:613731, OMIM:genemap2] +synonym: "retinitis pigmentosa 4" EXACT [DOID:0110372, MONDO:Lexical, OMIM:613731] +synonym: "retinitis pigmentosa 4, autosomal dominant or recessive" EXACT [] synonym: "retinitis pigmentosa caused by mutation in RHO" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 4" EXACT [DOID:0110372, MONDORULE:1, OMIM:613731] -synonym: "retinitis pigmentosa, rhodopsin-related" RELATED [OMIM:613731] +synonym: "retinitis pigmentosa type 4" EXACT [MONDORULE:1] +synonym: "retinitis pigmentosa, rhodopsin-related" RELATED [] synonym: "RHO retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RP 4" RELATED [GARD:0010405] synonym: "RP4" EXACT ABBREVIATION [DOID:0110372, MONDO:Lexical, OMIM:613731] @@ -306954,10 +307007,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:401986"} subset: orphanet_rare {source="Orphanet:401986"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "1p31p32 microdeletion syndrome" EXACT [DOID:0060409] -synonym: "brain malformations with or without urinary tract defects" RELATED [OMIM:613735] -synonym: "BRMUTD" RELATED ABBREVIATION [OMIM:613735] -synonym: "chromosome 1p32-p31 deletion syndrome" EXACT CLINGEN_LABEL [OMIM:613735] +synonym: "1p31p32 microdeletion syndrome" EXACT [DOID:0060409, Orphanet:401986] +synonym: "brain malformations with or without urinary tract defects" RELATED [] +synonym: "BRMUTD" RELATED ABBREVIATION [] +synonym: "chromosome 1p32-p31 deletion syndrome" EXACT CLINGEN_LABEL [DOID:0060409] synonym: "Del(1)(p31p32)" EXACT [Orphanet:401986] synonym: "monosomy 1p31p32" EXACT [Orphanet:401986] xref: DOID:0060409 {source="MONDO:equivalentTo"} @@ -306982,10 +307035,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013397 name: acne inversa, familial, 2 def: "Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene." [MONDO:patterns/disease_series_by_gene] -synonym: "acne inversa, familial, 2" EXACT [MONDO:Lexical, OMIM:613736] -synonym: "acne inversa, familial, 2, with or without Dowling-Degos disease" RELATED [OMIM:613736] -synonym: "acne inversa, familial, type 2" EXACT [MONDORULE:1, OMIM:613736] -synonym: "ACNINV2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613736] +synonym: "acne inversa, familial, 2" EXACT [MONDO:Lexical] +synonym: "acne inversa, familial, 2, with or without Dowling-Degos disease" RELATED [] +synonym: "acne inversa, familial, type 2" EXACT [MONDORULE:1] +synonym: "ACNINV2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "familial acne inversa caused by mutation in PSENEN" EXACT [MONDO:design_pattern] synonym: "PSENEN familial acne inversa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:462387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -307002,8 +307055,8 @@ id: MONDO:0013398 name: acne inversa, familial, 3 def: "Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "acne inversa, familial, 3" EXACT [MONDO:Lexical, OMIM:613737] -synonym: "acne inversa, familial, type 3" EXACT [MONDORULE:1, OMIM:613737] -synonym: "ACNINV3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613737] +synonym: "acne inversa, familial, type 3" EXACT [MONDORULE:1] +synonym: "ACNINV3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "familial acne inversa caused by mutation in PSEN1" EXACT [MONDO:design_pattern] synonym: "PSEN1 familial acne inversa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:462388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -307031,14 +307084,14 @@ subset: ordo_disorder {source="Orphanet:168558"} subset: orphanet_rare {source="Orphanet:168558"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency" RELATED [Orphanet:168558] -synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome" RELATED [Orphanet:168558] +synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency" RELATED [] +synonym: "46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome" RELATED [] synonym: "adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete" EXACT [DOID:0050546, OMIM:613743] -synonym: "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete" EXACT [OMIM:613743, OMIM:genemap2] +synonym: "adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete" EXACT [] synonym: "cholesterol side-chain cleavage deficiency" EXACT [NCIT:C131422] -synonym: "p450scc deficiency" EXACT [DOID:0050546, OMIM:613743] +synonym: "p450scc deficiency" EXACT [DOID:0050546, NCIT:C131422, OMIM:613743] synonym: "XY sex reversal-adrenal failure" EXACT [Orphanet:168558] -synonym: "XY sex reversal-adrenal failure syndrome" EXACT [Orphanet:168558] +synonym: "XY sex reversal-adrenal failure syndrome" EXACT [] xref: DOID:0050546 {source="MONDO:equivalentTo"} xref: GARD:17033 {source="MONDO:GARD"} xref: ICD10CM:Q56.1 {source="Orphanet:168558", source="Orphanet:168558/attributed", source="Orphanet:168558/ntbt"} @@ -307068,13 +307121,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AP4E1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant spastic paraplegia 51" EXACT [DOID:0110803] -synonym: "cerebral palsy, spastic quadriplegic, 4" RELATED [OMIM:613744] -synonym: "cerebral palsy, spastic quadriplegic, 4, formerly" RELATED [OMIM:613744] +synonym: "cerebral palsy, spastic quadriplegic, 4" RELATED [] +synonym: "cerebral palsy, spastic quadriplegic, 4, formerly" RELATED [] synonym: "CPSQ4" EXACT ABBREVIATION [DOID:0110803] synonym: "hereditary spastic paraplegia caused by mutation in AP4E1" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 51" EXACT [DOID:0110803, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 51" EXACT [MONDORULE:2] synonym: "Spastic Paraplegia 51" EXACT [NORD:1990] -synonym: "spastic paraplegia 51, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613744] +synonym: "spastic paraplegia 51, autosomal recessive" RELATED [MONDO:Lexical] synonym: "spastic quadriplegic cerebral palsy 4" EXACT [DOID:0110803] synonym: "SPG51" EXACT ABBREVIATION [DOID:0110803, MONDO:Lexical, OMIM:613744] xref: DOID:0110803 {source="MONDO:equivalentTo"} @@ -307097,10 +307150,10 @@ subset: gard_rare {source="GARD:15700", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "NRL retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinal Degeneration, autosomal recessive, Clumped pigment type" RELATED [OMIM:613750] -synonym: "retinitis pigmentosa 27" EXACT [MONDO:Lexical, OMIM:613750] +synonym: "retinal Degeneration, autosomal recessive, Clumped pigment type" RELATED [] +synonym: "retinitis pigmentosa 27" EXACT [DOID:0110397, MONDO:Lexical, OMIM:613750] synonym: "retinitis pigmentosa caused by mutation in NRL" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 27" EXACT [DOID:0110397, MONDORULE:2, OMIM:613750] +synonym: "retinitis pigmentosa type 27" EXACT [MONDORULE:2] synonym: "RP27" EXACT ABBREVIATION [DOID:0110397, MONDO:Lexical, OMIM:613750] xref: DOID:0110397 {source="MONDO:equivalentTo"} xref: GARD:15700 {source="MONDO:GARD"} @@ -307123,7 +307176,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ACVR2B visceral heterotaxy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "heterotaxy, visceral, 4, autosomal" EXACT [MONDO:Lexical, OMIM:613751] -synonym: "HTX4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613751] +synonym: "HTX4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "visceral heterotaxy caused by mutation in ACVR2B" EXACT [MONDO:design_pattern] xref: MEDGEN:462407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613751 {source="MONDO:equivalentTo"} @@ -307146,9 +307199,9 @@ subset: ordo_disorder {source="Orphanet:88618"} subset: orphanet_rare {source="Orphanet:88618"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039, Orphanet:88618] -synonym: "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase" EXACT CLINGEN_LABEL [] -synonym: "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency" RELATED [OMIM:613752] +synonym: "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039] +synonym: "hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase" EXACT CLINGEN_LABEL [DOID:0111039] +synonym: "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency" RELATED [] synonym: "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" EXACT [DOID:0111039] xref: DOID:0111039 {source="MONDO:equivalentTo"} xref: GARD:13177 {source="MONDO:GARD"} @@ -307173,9 +307226,9 @@ subset: gard_rare {source="GARD:15701", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CNGA1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 49" EXACT [MONDO:Lexical, OMIM:613756] +synonym: "retinitis pigmentosa 49" EXACT [DOID:0110377, MONDO:Lexical, OMIM:613756] synonym: "retinitis pigmentosa caused by mutation in CNGA1" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 49" EXACT [DOID:0110377, MONDORULE:2, OMIM:613756] +synonym: "retinitis pigmentosa type 49" EXACT [MONDORULE:2] synonym: "RP49" EXACT ABBREVIATION [DOID:0110377, MONDO:Lexical, OMIM:613756] xref: DOID:0110377 {source="MONDO:equivalentTo"} xref: GARD:15701 {source="MONDO:GARD"} @@ -307198,11 +307251,11 @@ def: "Any age-related macular degeneration in which the cause of the disease is subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "age related macular degeneration type 6" EXACT [DOID:0110018, MONDORULE:1] +synonym: "age related macular degeneration type 6" EXACT [MONDORULE:1] synonym: "age-related macular degeneration caused by mutation in RAX2" EXACT [MONDO:design_pattern] synonym: "ARMD6" EXACT ABBREVIATION [DOID:0110018, MONDO:Lexical, OMIM:613757] -synonym: "macular degeneration, age-related, 6" RELATED [MONDO:Lexical, OMIM:613757] -synonym: "macular Degeneration, age-related, type 6" EXACT [MONDORULE:1, OMIM:613757] +synonym: "macular degeneration, age-related, 6" RELATED [MONDO:Lexical] +synonym: "macular Degeneration, age-related, type 6" EXACT [MONDORULE:1] synonym: "RAX2 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110018 {source="MONDO:equivalentTo"} xref: MEDGEN:462410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -307222,9 +307275,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:15702", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 47" EXACT [MONDO:Lexical, OMIM:613758] +synonym: "retinitis pigmentosa 47" EXACT [DOID:0110369, MONDO:Lexical, OMIM:613758] synonym: "retinitis pigmentosa caused by mutation in SAG" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 47" EXACT [DOID:0110369, MONDORULE:2, OMIM:613758] +synonym: "retinitis pigmentosa type 47" EXACT [MONDORULE:2] synonym: "RP47" EXACT ABBREVIATION [DOID:0110369, MONDO:Lexical, OMIM:613758] synonym: "SAG retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110369 {source="MONDO:equivalentTo"} @@ -307246,10 +307299,10 @@ subset: ordo_disorder {source="Orphanet:306550"} subset: orphanet_rare {source="Orphanet:306550"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fadd deficiency" RELATED [OMIM:613759] -synonym: "FADD-related immunodeficiency" EXACT CLINGEN_LABEL [] -synonym: "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" EXACT [OMIM:613759, OMIM:genemap2] -synonym: "infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" RELATED [OMIM:613759] +synonym: "Fadd deficiency" RELATED [] +synonym: "FADD-related immunodeficiency" EXACT CLINGEN_LABEL [icd11.foundation:440676168, Orphanet:306550] +synonym: "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" EXACT [OMIM:613759] +synonym: "infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" RELATED [] xref: GARD:15004 {source="MONDO:GARD"} xref: icd11.foundation:440676168 {source="MONDO:equivalentTo"} xref: MEDGEN:462412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -307266,13 +307319,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013409 name: age related macular degeneration 5 def: "An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] -synonym: "age related macular degeneration type 5" EXACT [DOID:0110028, MONDORULE:1] +synonym: "age related macular degeneration type 5" EXACT [MONDORULE:1] synonym: "age-related macular degeneration caused by mutation in ERCC6" EXACT [MONDO:design_pattern] synonym: "ARMD5" EXACT ABBREVIATION [DOID:0110028, MONDO:Lexical, OMIM:613761] synonym: "ERCC6 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "macular degeneration, age-related, 5" RELATED [MONDO:Lexical, OMIM:613761] -synonym: "macular degeneration, age-related, susceptibility to, 5" EXACT [OMIM:613761, OMIM:genemap2] -synonym: "macular Degeneration, age-related, type 5" EXACT [MONDORULE:1, OMIM:613761] +synonym: "macular degeneration, age-related, 5" RELATED [MONDO:Lexical] +synonym: "macular degeneration, age-related, susceptibility to, 5" EXACT [] +synonym: "macular Degeneration, age-related, type 5" EXACT [MONDORULE:1] xref: DOID:0110028 {source="MONDO:equivalentTo"} xref: MEDGEN:462413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613761 {source="DOID:0110028", source="MONDO:equivalentTo"} @@ -307293,13 +307346,13 @@ subset: gard_rare {source="GARD:15703", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "46,XY gonadal dysgenesis, partial or complete, Map3K1-related" RELATED [OMIM:613762] -synonym: "46,XY SEX reversal 6" RELATED [OMIM:613762] -synonym: "46,XY sex reversal 6" EXACT [MONDO:Lexical, OMIM:613762] -synonym: "46,XY Sex reversal type 6" EXACT [MONDORULE:1, OMIM:613762] -synonym: "46,XY Sex reversal, partial or complete, Map3K1-related" RELATED [OMIM:613762] -synonym: "46XY sex reversal 6" EXACT [OMIM:613762, OMIM:genemap2] -synonym: "SRXY6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613762] +synonym: "46,XY gonadal dysgenesis, partial or complete, Map3K1-related" RELATED [] +synonym: "46,XY SEX reversal 6" RELATED [] +synonym: "46,XY sex reversal 6" EXACT [DOID:0111769, MONDO:Lexical, OMIM:613762] +synonym: "46,XY Sex reversal type 6" EXACT [MONDORULE:1] +synonym: "46,XY Sex reversal, partial or complete, Map3K1-related" RELATED [] +synonym: "46XY sex reversal 6" EXACT [] +synonym: "SRXY6" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111769 {source="MONDO:equivalentTo"} xref: GARD:15703 {source="MONDO:GARD"} xref: MEDGEN:462414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -307320,9 +307373,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cataract 16, multiple types" RELATED [MONDO:Lexical, OMIM:613763] -synonym: "cataract, congenital lamellar" RELATED [OMIM:613763] -synonym: "cataract, posterior polar, 2" RELATED [OMIM:613763] +synonym: "cataract 16, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract, congenital lamellar" RELATED [] +synonym: "cataract, posterior polar, 2" RELATED [] synonym: "CRYAB early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CTPP2" NARROW ABBREVIATION [DOID:0110250] synonym: "CTRCT16" EXACT ABBREVIATION [DOID:0110250, MONDO:Lexical, OMIM:613763] @@ -307353,10 +307406,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy, familial hypertrophic, 9" EXACT [DOID:0110315, MONDO:Lexical, OMIM:613765] -synonym: "cardiomyopathy, familial hypertrophic, type 9" EXACT [MONDORULE:1, OMIM:613765] +synonym: "cardiomyopathy, familial hypertrophic, type 9" EXACT [MONDORULE:1] synonym: "CMH9" EXACT ABBREVIATION [DOID:0110315, MONDO:Lexical, OMIM:613765] synonym: "hypertrophic cardiomyopathy caused by mutation in TTN" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 9" EXACT [DOID:0110315, MONDORULE:1] +synonym: "hypertrophic cardiomyopathy type 9" EXACT [MONDORULE:1] synonym: "TTN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110315 {source="MONDO:equivalentTo"} xref: MEDGEN:348780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -307381,9 +307434,9 @@ subset: gard_rare {source="GARD:15704", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CNGB1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 45" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613767] +synonym: "retinitis pigmentosa 45" EXACT CLINGEN_LABEL [DOID:0110402, MONDO:Lexical, OMIM:613767] synonym: "retinitis pigmentosa caused by mutation in CNGB1" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 45" EXACT [DOID:0110402, MONDORULE:2, OMIM:613767] +synonym: "retinitis pigmentosa type 45" EXACT [MONDORULE:2] synonym: "RP45" EXACT ABBREVIATION [DOID:0110402, MONDO:Lexical, OMIM:613767] xref: DOID:0110402 {source="MONDO:equivalentTo"} xref: GARD:15704 {source="MONDO:GARD"} @@ -307406,9 +307459,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:15705", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 44" EXACT [MONDO:Lexical, OMIM:613769] +synonym: "retinitis pigmentosa 44" EXACT [DOID:0110394, MONDO:Lexical, OMIM:613769] synonym: "retinitis pigmentosa caused by mutation in RGR" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 44" EXACT [DOID:0110394, MONDORULE:2, OMIM:613769] +synonym: "retinitis pigmentosa type 44" EXACT [MONDORULE:2] synonym: "RGR retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RP44" EXACT ABBREVIATION [DOID:0110394, MONDO:Lexical, OMIM:613769] xref: DOID:0110394 {source="MONDO:equivalentTo"} @@ -307430,7 +307483,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "17p13.1 deletion syndrome" RELATED [GARD:0010996] -synonym: "chromosome 17p13.1 deletion syndrome" EXACT [OMIM:613776] +synonym: "chromosome 17p13.1 deletion syndrome" EXACT [DOID:0060402, OMIM:613776] xref: DOID:0060402 {source="MONDO:equivalentTo"} xref: MEDGEN:462419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D054221 {source="DOID:0060402"} @@ -307449,12 +307502,12 @@ def: "Any age-related macular degeneration in which the cause of the disease is subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "age related macular degeneration type 8" EXACT [DOID:0110020, MONDORULE:1] +synonym: "age related macular degeneration type 8" EXACT [MONDORULE:1] synonym: "age-related macular degeneration caused by mutation in ARMS2" EXACT [MONDO:design_pattern] synonym: "ARMD8" EXACT ABBREVIATION [DOID:0110020, MONDO:Lexical, OMIM:613778] synonym: "ARMS2 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "macular degeneration, age-related, 8" RELATED [MONDO:Lexical, OMIM:613778] -synonym: "macular Degeneration, age-related, type 8" EXACT [MONDORULE:1, OMIM:613778] +synonym: "macular degeneration, age-related, 8" RELATED [MONDO:Lexical] +synonym: "macular Degeneration, age-related, type 8" EXACT [MONDORULE:1] xref: DOID:0110020 {source="MONDO:equivalentTo"} xref: MEDGEN:462420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613778 {source="MONDO:equivalentTo", source="DOID:0110020"} @@ -307476,11 +307529,11 @@ subset: orphanet_rare {source="Orphanet:280133"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "C3 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "C3 deficiency" EXACT [DOID:8354, Orphanet:280133] -synonym: "C3 deficiency, autosomal recessive" RELATED [OMIM:613779] -synonym: "C3d" RELATED [MONDO:Lexical, OMIM:613779] +synonym: "C3 deficiency" EXACT [DOID:8354, NCIT:C9468, Orphanet:280133] +synonym: "C3 deficiency, autosomal recessive" RELATED [] +synonym: "C3d" RELATED [MONDO:Lexical] synonym: "classic complement early component deficiency caused by mutation in C3" EXACT [MONDO:design_pattern] -synonym: "complement component 3 deficiency, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613779] +synonym: "complement component 3 deficiency, autosomal recessive" RELATED [MONDO:Lexical] xref: DOID:8354 {source="MONDO:equivalentTo"} xref: GARD:16489 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="Orphanet:280133", source="Orphanet:280133/attributed", source="Orphanet:280133/ntbt"} @@ -307503,10 +307556,10 @@ name: aortic aneurysm, familial thoracic 7 subset: gard_rare {source="GARD:15706", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AAT7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613780] +synonym: "AAT7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "aortic aneurysm, familial thoracic 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613780] -synonym: "aortic aneurysm, familial thoracic type 7" EXACT [MONDORULE:1, OMIM:613780] -synonym: "aortic dissection, familial, with or without aortic aneurysm" RELATED [OMIM:613780] +synonym: "aortic aneurysm, familial thoracic type 7" EXACT [MONDORULE:1] +synonym: "aortic dissection, familial, with or without aortic aneurysm" RELATED [] xref: GARD:15706 {source="MONDO:GARD"} xref: MEDGEN:462427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613780 {source="MONDO:equivalentTo"} @@ -307524,8 +307577,8 @@ def: "A rare defect resulting in C1 deficiency and impaired activation of the co subset: gard_rare {source="GARD:15707", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "C1s deficiency" RELATED [OMIM:613783] -synonym: "C1SD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613783] +synonym: "C1s deficiency" RELATED [] +synonym: "C1SD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "complement component C1s deficiency" EXACT [MONDO:Lexical, OMIM:613783] xref: GARD:15707 {source="MONDO:GARD"} xref: MEDGEN:462428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -307545,12 +307598,12 @@ def: "Any age-related macular degeneration in which the cause of the disease is subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "age related macular degeneration type 12" EXACT [DOID:0110024, MONDORULE:2] +synonym: "age related macular degeneration type 12" EXACT [MONDORULE:2] synonym: "age-related macular degeneration caused by mutation in CX3CR1" EXACT [MONDO:design_pattern] synonym: "ARMD12" EXACT ABBREVIATION [DOID:0110024, MONDO:Lexical, OMIM:613784] synonym: "CX3CR1 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "macular degeneration, age-related, 12" RELATED [MONDO:Lexical, OMIM:613784] -synonym: "macular Degeneration, age-related, type 12" EXACT [MONDORULE:2, OMIM:613784] +synonym: "macular degeneration, age-related, 12" RELATED [MONDO:Lexical] +synonym: "macular Degeneration, age-related, type 12" EXACT [MONDORULE:2] xref: DOID:0110024 {source="MONDO:equivalentTo"} xref: MEDGEN:462429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613784 {source="MONDO:equivalentTo", source="DOID:0110024"} @@ -307568,19 +307621,19 @@ def: "Any classic complement early component deficiency in which the cause of th subset: gard_rare {source="GARD:10625", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "C8 Beta deficiency" RELATED [OMIM:613789] +synonym: "C8 Beta deficiency" RELATED [] synonym: "C8 deficiency type II" RELATED [GARD:0010625] -synonym: "C8 deficiency, type 2" RELATED [OMIM:613789] -synonym: "C8 deficiency, type II" EXACT [OMIM:613789, OMIM:genemap2] +synonym: "C8 deficiency, type 2" RELATED [] +synonym: "C8 deficiency, type II" EXACT [] synonym: "C8B classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "C8B deficiency" RELATED [OMIM:613789] -synonym: "C8D2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613789] +synonym: "C8B deficiency" RELATED [] +synonym: "C8D2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "classic complement early component deficiency caused by mutation in C8B" EXACT [MONDO:design_pattern] synonym: "complement component 8 deficiency type 2" RELATED [GARD:0010625] synonym: "complement component 8 deficiency type II" RELATED [GARD:0010625] -synonym: "complement component 8 deficiency, type 2" RELATED [OMIM:613789] -synonym: "complement component 8 deficiency, type II" RELATED [MONDO:Lexical, OMIM:613789] -synonym: "complement component 8B deficiency" RELATED [OMIM:613789] +synonym: "complement component 8 deficiency, type 2" RELATED [] +synonym: "complement component 8 deficiency, type II" RELATED [MONDO:Lexical] +synonym: "complement component 8B deficiency" RELATED [] synonym: "Human complement C8-beta deficiency" RELATED [GARD:0010625] xref: DOID:0060302 {source="MONDO:equivalentTo"} xref: GARD:10625 {source="MONDO:GARD"} @@ -307604,19 +307657,19 @@ name: type I complement component 8 deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:10626", source="MONDO:GARD"} subset: rare -synonym: "C8 Alpha-gamma deficiency" RELATED [OMIM:613790] +synonym: "C8 Alpha-gamma deficiency" RELATED [] synonym: "C8 deficiency type I" RELATED [GARD:0010626] -synonym: "C8 deficiency, type 1" RELATED [OMIM:613790] -synonym: "C8 deficiency, type I" EXACT [OMIM:613790, OMIM:genemap2] +synonym: "C8 deficiency, type 1" RELATED [] +synonym: "C8 deficiency, type I" EXACT [] synonym: "C81 deficiency" RELATED [GARD:0010626] synonym: "C8A classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "C8Ag deficiency" RELATED [OMIM:613790] -synonym: "C8D1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613790] +synonym: "C8Ag deficiency" RELATED [] +synonym: "C8D1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "classic complement early component deficiency caused by mutation in C8A" EXACT [MONDO:design_pattern] synonym: "complement component 8 deficiency type 1" RELATED [GARD:0010626] synonym: "complement component 8 deficiency type I" RELATED [GARD:0010626] -synonym: "complement component 8 deficiency, type 1" RELATED [OMIM:613790] -synonym: "complement component 8 deficiency, type I" RELATED [MONDO:Lexical, OMIM:613790] +synonym: "complement component 8 deficiency, type 1" RELATED [] +synonym: "complement component 8 deficiency, type I" RELATED [MONDO:Lexical] xref: DOID:0060301 {source="MONDO:equivalentTo"} xref: GARD:10626 {source="MONDO:GARD"} xref: HGNC:1352 {source="GARD:0010626"} @@ -307643,9 +307696,9 @@ subset: ordo_disorder {source="Orphanet:331187"} subset: orphanet_rare {source="Orphanet:331187"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "immunodeficiency due to MASP-2 deficiency" EXACT CLINGEN_LABEL [] -synonym: "lectin complement activation pathway, defect in, 2" RELATED [OMIM:613791] -synonym: "MASP2 deficiency" RELATED [OMIM:613791] +synonym: "immunodeficiency due to MASP-2 deficiency" EXACT CLINGEN_LABEL [Orphanet:331187] +synonym: "lectin complement activation pathway, defect in, 2" RELATED [] +synonym: "MASP2 deficiency" RELATED [] xref: GARD:17512 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="Orphanet:331187", source="Orphanet:331187/attributed", source="Orphanet:331187/ntbt"} xref: MEDGEN:462435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -307678,12 +307731,12 @@ synonym: "chromosome 3p deletion" RELATED [GARD:0000037] synonym: "chromosome 3p- syndrome" RELATED [GARD:0003750] synonym: "chromosome 3pter-p25 deletion syndrome" EXACT [DOID:0060417, OMIM:613792] synonym: "Del(3p) syndrome" RELATED [GARD:0003750] -synonym: "del(3p25)" RELATED [NCIT:C41377] +synonym: "del(3p25)" RELATED [] synonym: "deletion 3p" RELATED [GARD:0000037] synonym: "deletion 3p25" RELATED [GARD:0003750] -synonym: "distal 3p deletion" EXACT [Orphanet:1620] -synonym: "distal monosomy 3p" EXACT [DOID:0060417] -synonym: "distal monosomy type 3p" EXACT [MONDORULE:4, Orphanet:1620] +synonym: "distal 3p deletion" EXACT [] +synonym: "distal monosomy 3p" EXACT [DOID:0060417, Orphanet:1620] +synonym: "distal monosomy type 3p" EXACT [MONDORULE:4] synonym: "monosomy 3p" RELATED [GARD:0000037] synonym: "monosomy 3pter" EXACT [Orphanet:1620] synonym: "partial monosomy 3p" RELATED [GARD:0000037] @@ -307713,9 +307766,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:10404", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 20" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613794] +synonym: "retinitis pigmentosa 20" EXACT CLINGEN_LABEL [DOID:0110353, MONDO:Lexical, OMIM:613794] synonym: "retinitis pigmentosa caused by mutation in RPE65" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 20" EXACT [DOID:0110353, MONDORULE:2, OMIM:613794] +synonym: "retinitis pigmentosa type 20" EXACT [MONDORULE:2] synonym: "RP 20" RELATED [GARD:0010404] synonym: "RP20" EXACT ABBREVIATION [DOID:0110353, MONDO:Lexical, OMIM:613794] synonym: "RPE65 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -307743,15 +307796,15 @@ subset: orphanet_rare {source="Orphanet:284984"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aneurysm - osteoarthritis syndrome" RELATED [GARD:0010997] -synonym: "aneurysm-osteoarthritis syndrome" EXACT CLINGEN_LABEL [] -synonym: "aneurysms-osteoarthritis syndrome" RELATED [OMIM:613795] -synonym: "LDS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613795] -synonym: "Loeys-Dietz syndrome 3" RELATED [MONDO:Lexical, OMIM:613795] -synonym: "Loeys-Dietz syndrome type 3" EXACT [MONDORULE:1, OMIM:613795] -synonym: "Loeys-Dietz syndrome with osteoarthritis" RELATED [OMIM:613795] -synonym: "Loeys-Dietz syndrome, type 1C" RELATED DEPRECATED [OMIM:613795] +synonym: "aneurysm-osteoarthritis syndrome" EXACT CLINGEN_LABEL [Orphanet:284984] +synonym: "aneurysms-osteoarthritis syndrome" RELATED [] +synonym: "LDS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Loeys-Dietz syndrome 3" RELATED [MONDO:Lexical] +synonym: "Loeys-Dietz syndrome type 3" EXACT [MONDORULE:1] +synonym: "Loeys-Dietz syndrome with osteoarthritis" RELATED [] +synonym: "Loeys-Dietz syndrome, type 1C" RELATED DEPRECATED [] synonym: "Loeys-Dietz syndrome, type 1C (formerly)" RELATED DEPRECATED [GARD:0010997] -synonym: "Loeys-Dietz syndrome, type 1C, formerly" RELATED DEPRECATED [OMIM:613795] +synonym: "Loeys-Dietz syndrome, type 1C, formerly" RELATED DEPRECATED [] synonym: "Loeys-Dietz syndrome, type 3" RELATED [GARD:0010997] xref: DOID:0070237 {source="MONDO:equivalentTo"} xref: GARD:10997 {source="MONDO:GARD"} @@ -307775,13 +307828,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:391311"} subset: orphanet_rare {source="Orphanet:391311"} subset: rare -synonym: "IMD31B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613796] -synonym: "immunodeficiency 31B" EXACT [MONDO:Lexical, OMIM:613796] -synonym: "immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive" RELATED [OMIM:613796] -synonym: "immunodeficiency type 31B" EXACT [MONDORULE:4, OMIM:613796] +synonym: "IMD31B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 31B" EXACT [DOID:0111944, MONDO:Lexical, OMIM:613796] +synonym: "immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive" RELATED [] +synonym: "immunodeficiency type 31B" EXACT [MONDORULE:4] synonym: "STAT1 deficiency" EXACT [Orphanet:391311] -synonym: "Stat1 deficiency, autosomal recessive" RELATED [OMIM:613796] -synonym: "susceptibility to viral and mycobacterial infections" BROAD [Orphanet:391311] +synonym: "Stat1 deficiency, autosomal recessive" RELATED [] +synonym: "susceptibility to viral and mycobacterial infections" BROAD [] xref: DOID:0111944 {source="MONDO:equivalentTo"} xref: GARD:17612 {source="MONDO:GARD"} xref: ICD10CM:D84.8 {source="Orphanet:391311/attributed", source="Orphanet:391311/ntbt", source="Orphanet:391311"} @@ -307802,11 +307855,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15708", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Meier-GORLIN syndrome 2" RELATED [OMIM:613800] -synonym: "Meier-Gorlin syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613800] +synonym: "Meier-GORLIN syndrome 2" RELATED [] +synonym: "Meier-Gorlin syndrome 2" EXACT CLINGEN_LABEL [DOID:0080513, MONDO:Lexical, OMIM:613800] synonym: "Meier-Gorlin syndrome caused by mutation in ORC4" EXACT [MONDO:design_pattern] -synonym: "Meier-Gorlin syndrome type 2" EXACT [MONDORULE:1, OMIM:613800] -synonym: "MGORS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613800] +synonym: "Meier-Gorlin syndrome type 2" EXACT [MONDORULE:1] +synonym: "MGORS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ORC4 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080513 {source="MONDO:equivalentTo"} xref: GARD:15708 {source="MONDO:GARD"} @@ -307830,10 +307883,10 @@ subset: gard_rare {source="GARD:15709", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PDE6B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 40" EXACT [MONDO:Lexical, OMIM:613801] +synonym: "retinitis pigmentosa 40" EXACT [DOID:0110375, MONDO:Lexical, OMIM:613801] synonym: "retinitis pigmentosa caused by mutation in PDE6B" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 40" EXACT [DOID:0110375, MONDORULE:2, OMIM:613801] -synonym: "retinitis pigmentosa-40" EXACT [OMIM:613801, OMIM:genemap2] +synonym: "retinitis pigmentosa type 40" EXACT [MONDORULE:2] +synonym: "retinitis pigmentosa-40" EXACT [] synonym: "RP40" EXACT ABBREVIATION [DOID:0110375, MONDO:Lexical, OMIM:613801] xref: DOID:0110375 {source="MONDO:equivalentTo"} xref: GARD:15709 {source="MONDO:GARD"} @@ -307854,11 +307907,11 @@ def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:15710", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Meier-GORLIN syndrome 3" RELATED [OMIM:613803] -synonym: "Meier-Gorlin syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613803] +synonym: "Meier-GORLIN syndrome 3" RELATED [] +synonym: "Meier-Gorlin syndrome 3" EXACT CLINGEN_LABEL [DOID:0080514, MONDO:Lexical, OMIM:613803] synonym: "Meier-Gorlin syndrome caused by mutation in ORC6" EXACT [MONDO:design_pattern] -synonym: "Meier-Gorlin syndrome type 3" EXACT [MONDORULE:1, OMIM:613803] -synonym: "MGORS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613803] +synonym: "Meier-Gorlin syndrome type 3" EXACT [MONDORULE:1] +synonym: "MGORS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ORC6 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080514 {source="MONDO:equivalentTo"} xref: GARD:15710 {source="MONDO:GARD"} @@ -307882,11 +307935,11 @@ subset: gard_rare {source="GARD:15711", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CDT1 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Meier-GORLIN syndrome 4" RELATED [OMIM:613804] -synonym: "Meier-Gorlin syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613804] +synonym: "Meier-GORLIN syndrome 4" RELATED [] +synonym: "Meier-Gorlin syndrome 4" EXACT CLINGEN_LABEL [DOID:0080515, MONDO:Lexical, OMIM:613804] synonym: "Meier-Gorlin syndrome caused by mutation in CDT1" EXACT [MONDO:design_pattern] -synonym: "Meier-Gorlin syndrome type 4" EXACT [MONDORULE:1, OMIM:613804] -synonym: "MGORS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613804] +synonym: "Meier-Gorlin syndrome type 4" EXACT [MONDORULE:1] +synonym: "MGORS4" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080515 {source="MONDO:equivalentTo"} xref: GARD:15711 {source="MONDO:GARD"} xref: MEDGEN:462470 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -307909,11 +307962,11 @@ subset: gard_rare {source="GARD:15712", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CDC6 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Meier-GORLIN syndrome 5" RELATED [OMIM:613805] -synonym: "Meier-Gorlin syndrome 5" EXACT [MONDO:Lexical, OMIM:613805] +synonym: "Meier-GORLIN syndrome 5" RELATED [] +synonym: "Meier-Gorlin syndrome 5" EXACT [DOID:0080516, MONDO:Lexical, OMIM:613805] synonym: "Meier-Gorlin syndrome caused by mutation in CDC6" EXACT [MONDO:design_pattern] -synonym: "Meier-Gorlin syndrome type 5" EXACT [MONDORULE:1, OMIM:613805] -synonym: "MGORS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613805] +synonym: "Meier-Gorlin syndrome type 5" EXACT [MONDORULE:1] +synonym: "MGORS5" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080516 {source="MONDO:equivalentTo"} xref: GARD:15712 {source="MONDO:GARD"} xref: MEDGEN:462476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -307936,7 +307989,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1613"} subset: ordo_disorder {source="Orphanet:171"} subset: orphanet_rare {source="Orphanet:171"} subset: rare -synonym: "cholangitis, primary sclerosing" RELATED [MONDO:Lexical, OMIM:613806] +synonym: "cholangitis, primary sclerosing" RELATED [MONDO:Lexical] synonym: "PSC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613806, Orphanet:171] xref: DOID:0060643 {source="MONDO:equivalentTo"} xref: GARD:1280 {source="MONDO:GARD"} @@ -307963,14 +308016,14 @@ subset: gard_rare {source="GARD:15713", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CCDC39 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "CILD14" EXACT ABBREVIATION [DOID:0110598, MONDO:Lexical, OMIM:613807] -synonym: "ciliary dyskinesia, primary, 14" RELATED [MONDO:Lexical, OMIM:613807] -synonym: "ciliary dyskinesia, primary, 14, with or without situs inversus" RELATED [OMIM:613807] -synonym: "ciliary dyskinesia, primary, type 14" EXACT [MONDORULE:2, OMIM:613807] -synonym: "primary ciliary dyskinesia 14" EXACT CLINGEN_LABEL [] +synonym: "CILD14" EXACT ABBREVIATION [DOID:0110598, MONDO:Lexical, NCIT:C148370, OMIM:613807] +synonym: "ciliary dyskinesia, primary, 14" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 14, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 14" EXACT [MONDORULE:2] +synonym: "primary ciliary dyskinesia 14" EXACT CLINGEN_LABEL [DOID:0110598, NCIT:C148370] synonym: "primary ciliary dyskinesia 14 with or without situs inversus" EXACT [DOID:0110598] synonym: "primary ciliary dyskinesia caused by mutation in CCDC39" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 14" EXACT [DOID:0110598, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 14" EXACT [MONDORULE:2] xref: DOID:0110598 {source="MONDO:equivalentTo"} xref: GARD:15713 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110598"} @@ -307994,14 +308047,14 @@ subset: gard_rare {source="GARD:15714", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CCDC40 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "CILD15" EXACT ABBREVIATION [DOID:0110623, MONDO:Lexical, OMIM:613808] -synonym: "ciliary dyskinesia, primary, 15" RELATED [MONDO:Lexical, OMIM:613808] -synonym: "ciliary dyskinesia, primary, 15, with or without situs inversus" RELATED [OMIM:613808] -synonym: "ciliary dyskinesia, primary, type 15" EXACT [MONDORULE:2, OMIM:613808] -synonym: "primary ciliary dyskinesia 15" EXACT CLINGEN_LABEL [] +synonym: "CILD15" EXACT ABBREVIATION [DOID:0110623, MONDO:Lexical, NCIT:C155999, OMIM:613808] +synonym: "ciliary dyskinesia, primary, 15" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 15, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 15" EXACT [MONDORULE:2] +synonym: "primary ciliary dyskinesia 15" EXACT CLINGEN_LABEL [DOID:0110623, NCIT:C155999] synonym: "primary ciliary dyskinesia 15 with or without situs inversus" EXACT [DOID:0110623] synonym: "primary ciliary dyskinesia caused by mutation in CCDC40" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 15" EXACT [DOID:0110623, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 15" EXACT [MONDORULE:2] xref: DOID:0110623 {source="MONDO:equivalentTo"} xref: GARD:15714 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110623"} @@ -308023,9 +308076,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:15715", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 39" EXACT [MONDO:Lexical, OMIM:613809] +synonym: "retinitis pigmentosa 39" EXACT [DOID:0110360, MONDO:Lexical, OMIM:613809] synonym: "retinitis pigmentosa caused by mutation in USH2A" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 39" EXACT [DOID:0110360, MONDORULE:2, OMIM:613809] +synonym: "retinitis pigmentosa type 39" EXACT [MONDORULE:2] synonym: "RP39" EXACT ABBREVIATION [DOID:0110360, MONDO:Lexical, OMIM:613809] synonym: "USH2A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110360 {source="MONDO:equivalentTo"} @@ -308046,9 +308099,9 @@ subset: gard_rare {source="GARD:15716", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PDE6A retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 43" EXACT [MONDO:Lexical, OMIM:613810] +synonym: "retinitis pigmentosa 43" EXACT [DOID:0110379, MONDO:Lexical, OMIM:613810] synonym: "retinitis pigmentosa caused by mutation in PDE6A" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 43" EXACT [DOID:0110379, MONDORULE:2, OMIM:613810] +synonym: "retinitis pigmentosa type 43" EXACT [MONDORULE:2] synonym: "RP43" EXACT ABBREVIATION [DOID:0110379, MONDO:Lexical, OMIM:613810] xref: DOID:0110379 {source="MONDO:equivalentTo"} xref: GARD:15716 {source="MONDO:GARD"} @@ -308071,12 +308124,12 @@ def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the dis subset: gard_rare {source="GARD:15717", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cerebello-cerebral atrophy, progressive" RELATED [OMIM:613811] -synonym: "Cerebellocerebral atrophy, progressive" RELATED [OMIM:613811] +synonym: "cerebello-cerebral atrophy, progressive" RELATED [] +synonym: "Cerebellocerebral atrophy, progressive" RELATED [] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS" EXACT [MONDO:design_pattern] -synonym: "PCH2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613811] -synonym: "pontocerebellar hypoplasia type 2D" EXACT CLINGEN_LABEL [] -synonym: "pontocerebellar hypoplasia, type 2D" RELATED [MONDO:Lexical, OMIM:613811] +synonym: "PCH2D" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pontocerebellar hypoplasia type 2D" EXACT CLINGEN_LABEL [DOID:0060270] +synonym: "pontocerebellar hypoplasia, type 2D" RELATED [MONDO:Lexical] synonym: "SEPSECS non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060270 {source="MONDO:equivalentTo"} xref: GARD:15717 {source="MONDO:GARD"} @@ -308102,11 +308155,11 @@ subset: orphanet_rare {source="Orphanet:79302"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BASD3" EXACT ABBREVIATION [Orphanet:79302] -synonym: "bile acid synthesis defect, congenital, 3" RELATED [MONDO:Lexical, OMIM:613812] -synonym: "bile acid synthesis defect, congenital, type 3" EXACT [MONDORULE:1, OMIM:613812] +synonym: "bile acid synthesis defect, congenital, 3" RELATED [MONDO:Lexical] +synonym: "bile acid synthesis defect, congenital, type 3" EXACT [MONDORULE:1] synonym: "CBAS3" EXACT ABBREVIATION [DOID:0111070, MONDO:Lexical, OMIM:613812] synonym: "congenital bile acid synthesis defect caused by mutation in CYP7B1" EXACT [MONDO:design_pattern] -synonym: "congenital bile acid synthesis defect type 3" EXACT [DOID:0111070, MONDORULE:1] +synonym: "congenital bile acid synthesis defect type 3" EXACT [MONDORULE:1, Orphanet:79302] synonym: "CYP7B1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "oxysterol 7-alpha-hydroxylase deficiency" EXACT [DOID:0111070, Orphanet:79302] xref: DOID:0111070 {source="MONDO:equivalentTo"} @@ -308140,11 +308193,11 @@ synonym: "DAG1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO: synonym: "LGMD2P" EXACT ABBREVIATION [DOID:0110293, Orphanet:280333] synonym: "limb-girdle muscular dystrophy type 2P" RELATED [GARD:0012541] synonym: "MDDGC9" EXACT ABBREVIATION [DOID:0110293, MONDO:Lexical, OMIM:613818] -synonym: "muscular dystrophy, limb-girdle, type 2P" RELATED [OMIM:613818] +synonym: "muscular dystrophy, limb-girdle, type 2P" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9" EXACT [DOID:0110293] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9" RELATED [MONDO:Lexical, OMIM:613818] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9" RELATED [MONDO:Lexical] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related" EXACT [DOID:0110293] -synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related" RELATED [OMIM:613818] +synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related" RELATED [] xref: DOID:0110293 {source="MONDO:equivalentTo"} xref: GARD:12541 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="DOID:0110293", source="Orphanet:280333", source="Orphanet:280333/attributed", source="Orphanet:280333/ntbt"} @@ -308167,8 +308220,8 @@ def: "An asphyxiating thoracic dystrophy has material basis in compound heterozy subset: gard_rare {source="GARD:15718", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "asphyxiating thoracic dystrophy 4" EXACT [OMIM:613819] -synonym: "asphyxiating thoracic dystrophy type 4" EXACT [DOID:0110088, MONDORULE:1] +synonym: "asphyxiating thoracic dystrophy 4" EXACT [DOID:0110088, OMIM:613819] +synonym: "asphyxiating thoracic dystrophy type 4" EXACT [MONDORULE:1] synonym: "ATD4" EXACT ABBREVIATION [DOID:0110088] synonym: "short-rib thoracic dysplasia 4 with or without polydactyly" EXACT [DOID:0110088, MONDO:Lexical, OMIM:613819] synonym: "SRTD4" EXACT ABBREVIATION [DOID:0110088, MONDO:Lexical, OMIM:613819] @@ -308190,10 +308243,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Joubert syndrome 11" RELATED [OMIM:613820] +synonym: "Joubert syndrome 11" RELATED [] synonym: "nephronophthisis (disease) caused by mutation in TTC21B" EXACT [] -synonym: "nephronophthisis 12" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613820] -synonym: "nephronophthisis type 12" EXACT [DOID:0111119, MONDORULE:2, OMIM:613820] +synonym: "nephronophthisis 12" EXACT CLINGEN_LABEL [DOID:0111119, MONDO:Lexical, OMIM:613820] +synonym: "nephronophthisis type 12" EXACT [MONDORULE:2] synonym: "NPHP12" EXACT ABBREVIATION [DOID:0111119, MONDO:Lexical, OMIM:613820] synonym: "TTC21B nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0111119 {source="MONDO:equivalentTo"} @@ -308217,9 +308270,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEP152 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL5" EXACT ABBREVIATION [DOID:0070012, MONDO:Lexical, OMIM:613823] -synonym: "Seckel syndrome 5" EXACT [MONDO:Lexical, OMIM:613823] +synonym: "Seckel syndrome 5" EXACT [DOID:0070012, MONDO:Lexical, OMIM:613823] synonym: "Seckel syndrome caused by mutation in CEP152" EXACT [MONDO:design_pattern] -synonym: "Seckel syndrome type 5" EXACT [MONDORULE:1, OMIM:613823] +synonym: "Seckel syndrome type 5" EXACT [MONDORULE:1] xref: DOID:0070012 {source="MONDO:equivalentTo"} xref: GARD:15719 {source="MONDO:GARD"} xref: MEDGEN:462537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -308243,8 +308296,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "NEK8 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nephronophthisis (disease) caused by mutation in NEK8" EXACT [] -synonym: "nephronophthisis 9" EXACT [MONDO:Lexical, OMIM:613824] -synonym: "nephronophthisis type 9" EXACT [DOID:0111120, MONDORULE:1, OMIM:613824] +synonym: "nephronophthisis 9" EXACT [DOID:0111120, MONDO:Lexical, OMIM:613824] +synonym: "nephronophthisis type 9" EXACT [MONDORULE:1] synonym: "NPHP9" EXACT ABBREVIATION [DOID:0111120, MONDO:Lexical, OMIM:613824] xref: DOID:0111120 {source="MONDO:equivalentTo"} xref: MEDGEN:462538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -308264,10 +308317,10 @@ def: "Any classic complement early component deficiency in which the cause of th subset: gard_rare {source="GARD:18292", source="MONDO:GARD"} subset: rare synonym: "C9 classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "C9 deficiency" RELATED [OMIM:613825] -synonym: "C9D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613825] +synonym: "C9 deficiency" RELATED [] +synonym: "C9D" RELATED ABBREVIATION [MONDO:Lexical] synonym: "classic complement early component deficiency caused by mutation in C9" EXACT [MONDO:design_pattern] -synonym: "complement component 9 deficiency" EXACT [MONDO:Lexical, OMIM:613825] +synonym: "complement component 9 deficiency" EXACT [DOID:0060303, MONDO:Lexical, OMIM:613825] xref: DOID:0060303 {source="MONDO:equivalentTo"} xref: GARD:18292 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="DOID:0060303"} @@ -308291,9 +308344,9 @@ subset: gard_rare {source="GARD:10490", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "LCA6" EXACT ABBREVIATION [DOID:0110329, MONDO:Lexical, OMIM:613826] -synonym: "Leber congenital amaurosis 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613826] +synonym: "Leber congenital amaurosis 6" EXACT CLINGEN_LABEL [DOID:0110329, MONDO:Lexical, OMIM:613826] synonym: "Leber congenital amaurosis caused by mutation in RPGRIP1" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 6" EXACT [DOID:0110329, MONDORULE:1, OMIM:613826] +synonym: "Leber congenital amaurosis type 6" EXACT [MONDORULE:1] synonym: "RPGRIP1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110329 {source="MONDO:equivalentTo"} xref: GARD:10490 {source="MONDO:GARD"} @@ -308317,9 +308370,9 @@ subset: gard_rare {source="GARD:15720", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GUCA1B retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 48" EXACT [MONDO:Lexical, OMIM:613827] +synonym: "retinitis pigmentosa 48" EXACT [DOID:0110382, MONDO:Lexical, OMIM:613827] synonym: "retinitis pigmentosa caused by mutation in GUCA1B" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 48" EXACT [DOID:0110382, MONDORULE:2, OMIM:613827] +synonym: "retinitis pigmentosa type 48" EXACT [MONDORULE:2] synonym: "RP48" EXACT ABBREVIATION [DOID:0110382, MONDO:Lexical, OMIM:613827] xref: DOID:0110382 {source="MONDO:equivalentTo"} xref: GARD:15720 {source="MONDO:GARD"} @@ -308337,8 +308390,8 @@ id: MONDO:0013448 name: generalized epilepsy with febrile seizures plus, type 8 subset: gard_rare {source="GARD:18664", source="MONDO:GARD"} subset: rare -synonym: "Gefs+, type 8" RELATED [OMIM:613828] -synonym: "GEFSP8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613828] +synonym: "Gefs+, type 8" RELATED [] +synonym: "GEFSP8" EXACT ABBREVIATION [DOID:0111299, MONDO:Lexical, OMIM:613828] synonym: "generalized epilepsy with febrile seizures plus, type 8" EXACT [MONDO:Lexical, OMIM:613828] xref: DOID:0111299 {source="MONDO:equivalentTo"} xref: GARD:18664 {source="MONDO:GARD"} @@ -308357,9 +308410,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CRX Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA7" EXACT ABBREVIATION [DOID:0110333, MONDO:Lexical, OMIM:613829] -synonym: "Leber congenital amaurosis 7" EXACT [MONDO:Lexical, OMIM:613829] +synonym: "Leber congenital amaurosis 7" EXACT [DOID:0110333, MONDO:Lexical, OMIM:613829] synonym: "Leber congenital amaurosis caused by mutation in CRX" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 7" EXACT [DOID:0110333, MONDORULE:1, OMIM:613829] +synonym: "Leber congenital amaurosis type 7" EXACT [MONDORULE:1] xref: DOID:0110333 {source="MONDO:equivalentTo"} xref: GARD:10880 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110333"} @@ -308379,14 +308432,14 @@ name: congenital stationary night blindness 1D def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15721", source="MONDO:GARD"} subset: rare -synonym: "congenital stationary night blindness 1D" EXACT CLINGEN_LABEL [] +synonym: "congenital stationary night blindness 1D" EXACT CLINGEN_LABEL [DOID:0110868] synonym: "congenital stationary night blindness 1D autosomal recessive" EXACT [DOID:0110868] synonym: "congenital stationary night blindness caused by mutation in SLC24A1" EXACT [MONDO:design_pattern] -synonym: "congenital stationary night blindness type 1D" EXACT [DOID:0110868, MONDORULE:4] -synonym: "Csnb, complete, autosomal recessive" RELATED [OMIM:613830] +synonym: "congenital stationary night blindness type 1D" EXACT [MONDORULE:4] +synonym: "Csnb, complete, autosomal recessive" RELATED [] synonym: "CSNB1D" EXACT ABBREVIATION [DOID:0110868, MONDO:Lexical, OMIM:613830] -synonym: "night blindness, congenital stationary (complete), 1D, autosomal recessive" EXACT [OMIM:613830, OMIM:genemap2] -synonym: "night blindness, congenital stationary, type 1D" RELATED [MONDO:Lexical, OMIM:613830] +synonym: "night blindness, congenital stationary (complete), 1D, autosomal recessive" EXACT [] +synonym: "night blindness, congenital stationary, type 1D" RELATED [MONDO:Lexical] synonym: "SLC24A1 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110868 {source="MONDO:equivalentTo"} xref: GARD:15721 {source="MONDO:GARD"} @@ -308420,8 +308473,8 @@ subset: orphanet_rare {source="Orphanet:404463"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [GARD:0012811] -synonym: "multisystemic smooth muscle dysfunction syndrome" EXACT [OMIM:613834] -synonym: "mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [OMIM:613834] +synonym: "multisystemic smooth muscle dysfunction syndrome" EXACT [OMIM:613834, Orphanet:404463] +synonym: "mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" RELATED [] xref: GARD:12811 {source="MONDO:GARD"} xref: ICD10CM:I73.8 {source="Orphanet:404463", source="Orphanet:404463/attributed", source="Orphanet:404463/ntbt"} xref: MEDGEN:462551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -308442,9 +308495,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CRB1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA8" EXACT ABBREVIATION [DOID:0110079, MONDO:Lexical, OMIM:613835] -synonym: "Leber congenital amaurosis 8" EXACT [MONDO:Lexical, OMIM:613835] +synonym: "Leber congenital amaurosis 8" EXACT [DOID:0110079, MONDO:Lexical, OMIM:613835] synonym: "Leber congenital amaurosis caused by mutation in CRB1" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 8" EXACT [DOID:0110079, MONDORULE:1, OMIM:613835] +synonym: "Leber congenital amaurosis type 8" EXACT [MONDORULE:1] xref: DOID:0110079 {source="MONDO:equivalentTo"} xref: GARD:10881 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110079"} @@ -308469,9 +308522,9 @@ subset: rare synonym: "amaurosis congenita of Leber, type 11" RELATED [GARD:0010488] synonym: "IMPDH1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA11" EXACT ABBREVIATION [DOID:0110216, MONDO:Lexical, OMIM:613837] -synonym: "Leber congenital amaurosis 11" EXACT [MONDO:Lexical, OMIM:613837] +synonym: "Leber congenital amaurosis 11" EXACT [DOID:0110216, MONDO:Lexical, OMIM:613837] synonym: "Leber congenital amaurosis caused by mutation in IMPDH1" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 11" EXACT [DOID:0110216, MONDORULE:2, OMIM:613837] +synonym: "Leber congenital amaurosis type 11" EXACT [MONDORULE:2] xref: DOID:0110216 {source="MONDO:equivalentTo"} xref: GARD:10488 {source="MONDO:GARD"} xref: HGNC:6052 {source="GARD:0010488"} @@ -308497,12 +308550,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy familial hypertrophic 16" EXACT [DOID:0110322] -synonym: "cardiomyopathy, familial hypertrophic, 16" RELATED [MONDO:Lexical, OMIM:613838] -synonym: "cardiomyopathy, familial hypertrophic, type 16" EXACT [MONDORULE:2, OMIM:613838] -synonym: "cardiomyopathy, hypertrophic, 16" EXACT [OMIM:613838, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 16" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 16" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, hypertrophic, 16" EXACT [] synonym: "CMH16" EXACT ABBREVIATION [DOID:0110322, MONDO:Lexical, OMIM:613838] synonym: "hypertrophic cardiomyopathy caused by mutation in MYOZ2" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 16" EXACT [DOID:0110322, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 16" EXACT [MONDORULE:2] synonym: "MYOZ2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110322 {source="MONDO:equivalentTo"} xref: MEDGEN:462554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -308528,7 +308581,7 @@ subset: rare synonym: "DHFR deficiency" EXACT [OMIM:613839, Orphanet:319651] synonym: "dihydrofolate reductase deficiency" EXACT [Orphanet:319651] synonym: "megaloblastic anaemia due to dihydrofolate reductase deficiency" RELATED OMO:0003005 [] -synonym: "megaloblastic anemia due to dihydrofolate reductase deficiency" RELATED [OMIM:613839] +synonym: "megaloblastic anemia due to dihydrofolate reductase deficiency" RELATED [] xref: GARD:11000 {source="MONDO:GARD"} xref: ICD10CM:D52.8 {source="Orphanet:319651", source="Orphanet:319651/attributed", source="Orphanet:319651/ntbt"} xref: MEDGEN:462555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -308550,10 +308603,10 @@ subset: gard_rare {source="GARD:10884", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "LCA15" EXACT ABBREVIATION [DOID:0110189, MONDO:Lexical, OMIM:613843] -synonym: "Leber congenital amaurosis 15" EXACT [MONDO:Lexical, OMIM:613843] +synonym: "Leber congenital amaurosis 15" EXACT [DOID:0110189, MONDO:Lexical, OMIM:613843] synonym: "Leber congenital amaurosis caused by mutation in TULP1" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 15" EXACT [DOID:0110189, MONDORULE:2, OMIM:613843] -synonym: "retinitis pigmentosa, juvenile, Tulp1-related" RELATED [OMIM:613843] +synonym: "Leber congenital amaurosis type 15" EXACT [MONDORULE:2] +synonym: "retinitis pigmentosa, juvenile, Tulp1-related" RELATED [] synonym: "TULP1 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110189 {source="MONDO:equivalentTo"} xref: GARD:10884 {source="MONDO:GARD"} @@ -308576,11 +308629,11 @@ subset: ordo_disorder {source="Orphanet:363694"} subset: orphanet_rare {source="Orphanet:363694"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HUPRA syndrome" EXACT [Orphanet:363694] -synonym: "Hupra syndrome" RELATED [OMIM:613845] -synonym: "HUPRAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613845] -synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis" EXACT [OMIM:613845, OMIM:genemap2] -synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" RELATED [MONDO:Lexical, OMIM:613845] +synonym: "HUPRA syndrome" EXACT [OMIM:613845, Orphanet:363694] +synonym: "Hupra syndrome" RELATED [] +synonym: "HUPRAS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis" EXACT [] +synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" RELATED [MONDO:Lexical] xref: GARD:17569 {source="MONDO:GARD"} xref: ICD10CM:N15.8 {source="Orphanet:363694", source="Orphanet:363694/attributed", source="Orphanet:363694/ntbt"} xref: MEDGEN:462559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -308603,12 +308656,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "OI type 10" RELATED [GARD:0012874] synonym: "OI type X" RELATED [GARD:0012874] -synonym: "OI, type 10" RELATED [OMIM:613848] +synonym: "OI, type 10" RELATED [] synonym: "OI10" EXACT ABBREVIATION [DOID:0110346, MONDO:Lexical, OMIM:613848] synonym: "osteogenesis imperfecta caused by mutation in SERPINH1" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type X" EXACT [DOID:0110346] -synonym: "osteogenesis imperfecta, type 10" RELATED [OMIM:613848] -synonym: "osteogenesis imperfecta, type X" RELATED [MONDO:Lexical, OMIM:613848] +synonym: "osteogenesis imperfecta, type 10" RELATED [] +synonym: "osteogenesis imperfecta, type X" RELATED [MONDO:Lexical] synonym: "SERPINH1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110346 {source="MONDO:equivalentTo"} xref: GARD:12874 {source="MONDO:GARD"} @@ -308631,12 +308684,12 @@ def: "Any osteogenesis imperfecta in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15722", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "OI, type 12" RELATED [OMIM:613849] +synonym: "OI, type 12" RELATED [] synonym: "OI12" EXACT ABBREVIATION [DOID:0110348, MONDO:Lexical, OMIM:613849] synonym: "osteogenesis imperfecta caused by mutation in SP7" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XII" EXACT [DOID:0110348] -synonym: "osteogenesis imperfecta, type 12" RELATED [OMIM:613849] -synonym: "osteogenesis imperfecta, type XII" RELATED [MONDO:Lexical, OMIM:613849] +synonym: "osteogenesis imperfecta, type 12" RELATED [] +synonym: "osteogenesis imperfecta, type XII" RELATED [MONDO:Lexical] synonym: "SP7 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110348 {source="MONDO:equivalentTo"} xref: GARD:15722 {source="MONDO:GARD"} @@ -308657,8 +308710,8 @@ id: MONDO:0013461 name: inosine triphosphatase deficiency def: "An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes." [NCIT:C129974] subset: otar {source="MONDO:OTAR"} -synonym: "inosine triphosphatase deficiency" EXACT [OMIM:613850, OMIM:genemap2] -synonym: "inosine triphosphate pyrophosphohydrolase deficiency" RELATED [OMIM:613850] +synonym: "inosine triphosphatase deficiency" EXACT [NCIT:C129974, OMIM:613850] +synonym: "inosine triphosphate pyrophosphohydrolase deficiency" RELATED [] xref: ICD9:277.2 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:452450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564127 {source="MONDO:equivalentTo"} @@ -308675,7 +308728,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013462 name: fucosyltransferase 6 deficiency subset: otar {source="MONDO:OTAR"} -synonym: "fucosyltransferase 6 deficiency" EXACT [OMIM:613852, OMIM:genemap2] +synonym: "fucosyltransferase 6 deficiency" EXACT [OMIM:613852] xref: MEDGEN:462569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613852 {source="MONDO:equivalentTo"} xref: UMLS:C3151219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462569"} @@ -308690,16 +308743,16 @@ def: "Any dextro-looped transposition of the great arteries in which the cause o subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CHTD6" RELATED ABBREVIATION [OMIM:613854] +synonym: "CHTD6" RELATED ABBREVIATION [] synonym: "congenital heart defects, multiple types, 6" EXACT [OMIM:613854] -synonym: "dextro-looped transposition of the great arteries 3" EXACT [OMIM:613854] +synonym: "dextro-looped transposition of the great arteries 3" EXACT [DOID:0060772] synonym: "dextro-looped transposition of the great arteries caused by mutation in GDF1" EXACT [MONDO:design_pattern] -synonym: "dextro-looped transposition of the great arteries type 3" EXACT [DOID:0060772, MONDORULE:1] -synonym: "DTGA3" EXACT ABBREVIATION [DOID:0060772, MONDO:Lexical, OMIM:613854] +synonym: "dextro-looped transposition of the great arteries type 3" EXACT [MONDORULE:1] +synonym: "DTGA3" EXACT ABBREVIATION [DOID:0060772, MONDO:Lexical] synonym: "GDF1 dextro-looped transposition of the great arteries" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "transposition of the great arteries, dextro-looped 3" RELATED [MONDO:Lexical, OMIM:613854] -synonym: "transposition of the great arteries, dextro-looped 3, formerly" RELATED [OMIM:613854] -synonym: "transposition of the great arteries, dextro-looped type 3" EXACT [MONDORULE:1, OMIM:613854] +synonym: "transposition of the great arteries, dextro-looped 3" RELATED [MONDO:Lexical] +synonym: "transposition of the great arteries, dextro-looped 3, formerly" RELATED [] +synonym: "transposition of the great arteries, dextro-looped type 3" EXACT [MONDORULE:1] xref: DOID:0060772 {source="MONDO:equivalentTo"} xref: ICD10CM:Q20.3 {source="DOID:0060772"} xref: MEDGEN:462571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -308724,8 +308777,8 @@ subset: orphanet_rare {source="Orphanet:211067"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CACNB4 hereditary episodic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "EA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613855] -synonym: "episodic ataxia, type 5" RELATED [MONDO:Lexical, OMIM:613855] +synonym: "EA5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "episodic ataxia, type 5" RELATED [MONDO:Lexical] synonym: "hereditary episodic ataxia caused by mutation in CACNB4" EXACT [MONDO:design_pattern] xref: DOID:0050993 {source="MONDO:equivalentTo"} xref: GARD:17113 {source="MONDO:GARD"} @@ -308748,9 +308801,9 @@ def: "Any achromatopsia in which the cause of the disease is a mutation in the G subset: gard_rare {source="GARD:15723", source="MONDO:GARD"} subset: rare synonym: "ACHM4" EXACT ABBREVIATION [DOID:0110010, MONDO:Lexical, OMIM:613856] -synonym: "achromatopsia 4" EXACT [MONDO:Lexical, OMIM:613856] +synonym: "achromatopsia 4" EXACT [DOID:0110010, MONDO:Lexical, OMIM:613856] synonym: "achromatopsia caused by mutation in GNAT2" EXACT [MONDO:design_pattern] -synonym: "achromatopsia type 4" EXACT [DOID:0110010, MONDORULE:1, OMIM:613856] +synonym: "achromatopsia type 4" EXACT [MONDORULE:1] synonym: "GNAT2 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110010 {source="MONDO:equivalentTo"} xref: GARD:15723 {source="MONDO:GARD"} @@ -308771,7 +308824,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013466 name: orofacial cleft 13 synonym: "OFC13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613857] -synonym: "orofacial cleft 13" EXACT [MONDO:Lexical, OMIM:613857] +synonym: "orofacial cleft 13" EXACT [DOID:0080406, MONDO:Lexical, OMIM:613857] xref: DOID:0080406 {source="MONDO:equivalentTo"} xref: MEDGEN:462572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613857 {source="MONDO:equivalentTo"} @@ -308789,10 +308842,10 @@ subset: ordo_disorder {source="Orphanet:331190"} subset: orphanet_rare {source="Orphanet:331190"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fcn3 deficiency" RELATED [OMIM:613860] -synonym: "ficolin 3 deficiency" RELATED [OMIM:613860] -synonym: "immunodeficiency due to ficolin 3 deficiency" RELATED [OMIM:613860] -synonym: "lectin complement activation pathway, defect in, 3" RELATED [OMIM:613860] +synonym: "Fcn3 deficiency" RELATED [] +synonym: "ficolin 3 deficiency" RELATED [] +synonym: "immunodeficiency due to ficolin 3 deficiency" RELATED [] +synonym: "lectin complement activation pathway, defect in, 3" RELATED [] xref: GARD:17513 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="Orphanet:331190", source="Orphanet:331190/attributed", source="Orphanet:331190/ntbt"} xref: MEDGEN:462576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -308812,12 +308865,12 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:15724", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "congenital disorder of glycosylation, type 1bb" EXACT [OMIM:613861, OMIM:genemap2] -synonym: "congenital disorder of glycosylation, type Ibb" RELATED [OMIM:613861] +synonym: "congenital disorder of glycosylation, type 1bb" EXACT [] +synonym: "congenital disorder of glycosylation, type Ibb" RELATED [] synonym: "DHDDS retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 59" EXACT [MONDO:Lexical, OMIM:613861] +synonym: "retinitis pigmentosa 59" EXACT [DOID:0110352, MONDO:Lexical, OMIM:613861] synonym: "retinitis pigmentosa caused by mutation in DHDDS" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 59" EXACT [DOID:0110352, MONDORULE:2, OMIM:613861] +synonym: "retinitis pigmentosa type 59" EXACT [MONDORULE:2] synonym: "RP59" EXACT ABBREVIATION [DOID:0110352, MONDO:Lexical, OMIM:613861] xref: DOID:0110352 {source="MONDO:equivalentTo"} xref: GARD:15724 {source="MONDO:GARD"} @@ -308841,10 +308894,10 @@ subset: gard_rare {source="GARD:15725", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "MERTK retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 38" EXACT [MONDO:Lexical, OMIM:613862] +synonym: "retinitis pigmentosa 38" EXACT [DOID:0110367, MONDO:Lexical, OMIM:613862] synonym: "retinitis pigmentosa caused by mutation in MERTK" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 38" EXACT [DOID:0110367, MONDORULE:2, OMIM:613862] -synonym: "Rod-cone dystrophy, childhood-onset" RELATED [OMIM:613862] +synonym: "retinitis pigmentosa type 38" EXACT [MONDORULE:2] +synonym: "Rod-cone dystrophy, childhood-onset" RELATED [] synonym: "RP38" EXACT ABBREVIATION [DOID:0110367, MONDO:Lexical, OMIM:613862] xref: DOID:0110367 {source="MONDO:equivalentTo"} xref: GARD:15725 {source="MONDO:GARD"} @@ -308866,9 +308919,9 @@ name: generalized epilepsy with febrile seizures plus, type 7 def: "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18665", source="MONDO:GARD"} subset: rare -synonym: "febrile seizures, familial, 3B" RELATED [OMIM:613863] -synonym: "Gefs+, type 7" RELATED [OMIM:613863] -synonym: "GEFSP7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613863] +synonym: "febrile seizures, familial, 3B" RELATED [] +synonym: "Gefs+, type 7" RELATED [] +synonym: "GEFSP7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "generalised epilepsy with febrile seizures plus caused by mutation in SCN9A" EXACT OMO:0003005 [] synonym: "generalized epilepsy with febrile seizures plus caused by mutation in SCN9A" EXACT [MONDO:design_pattern] synonym: "generalized epilepsy with febrile seizures plus, type 7" EXACT [MONDO:Lexical, OMIM:613863] @@ -308893,13 +308946,13 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22639", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 61" NARROW [DOID:0110513] -synonym: "autosomal recessive nonsyndromic deafness 61" NARROW [OMIM:613865] +synonym: "autosomal recessive deafness 61" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 61" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 61" NARROW [DOID:0110513, MONDORULE:2] -synonym: "deafness, autosomal recessive 61" NARROW [MONDO:Lexical, OMIM:613865, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 61" NARROW [MONDORULE:2, OMIM:613865] -synonym: "DFNB61" NARROW ABBREVIATION [DOID:0110513, MONDO:Lexical, OMIM:613865] +synonym: "autosomal recessive nonsyndromic deafness type 61" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 61" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 61" NARROW [MONDORULE:2] +synonym: "DFNB61" NARROW ABBREVIATION [MONDO:Lexical] synonym: "SLC26A5 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110513 {source="MONDO:equivalentTo"} xref: GARD:22639 {source="MONDO:GARD"} @@ -308923,11 +308976,11 @@ subset: ordo_disorder {source="Orphanet:280553"} subset: orphanet_rare {source="Orphanet:280553"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [DOID:0080098, OMIM:613869] -synonym: "fatal infantile hypertonic myofibrillar myopathy" EXACT [Orphanet:280553] -synonym: "MFM, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [OMIM:613869] -synonym: "myofibrillar myopathy type 7" RELATED [DOID:0080098] -synonym: "myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [OMIM:613869] +synonym: "alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [] +synonym: "fatal infantile hypertonic myofibrillar myopathy" EXACT [DOID:0080309, Orphanet:280553] +synonym: "MFM, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [] +synonym: "myofibrillar myopathy type 7" RELATED [] +synonym: "myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related" RELATED [] xref: DOID:0080309 {source="MONDO:equivalentTo"} xref: GARD:17296 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:280553", source="Orphanet:280553/attributed", source="Orphanet:280553/ntbt"} @@ -308945,8 +308998,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013473 name: Hirschsprung disease, cardiac defects, and autonomic dysfunction -synonym: "HCAD" RELATED ABBREVIATION [OMIM:613870] -synonym: "Hirschsprung disease, CARDIAC defects, and autonomic dysfunction" RELATED [OMIM:613870] +synonym: "HCAD" RELATED ABBREVIATION [] +synonym: "Hirschsprung disease, CARDIAC defects, and autonomic dysfunction" RELATED [] synonym: "Hirschsprung disease, cardiac defects, and autonomic dysfunction" EXACT [OMIM:613870] xref: MEDGEN:462587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563939 {source="MONDO:equivalentTo"} @@ -308964,12 +309017,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathy familial hypertrophic 17" EXACT [DOID:0110323] -synonym: "cardiomyopathy, familial hypertrophic, 17" RELATED [MONDO:Lexical, OMIM:613873] -synonym: "cardiomyopathy, familial hypertrophic, type 17" EXACT [MONDORULE:2, OMIM:613873] -synonym: "cardiomyopathy, hypertrophic, 17" EXACT [OMIM:613873, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 17" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 17" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, hypertrophic, 17" EXACT [] synonym: "CMH17" EXACT ABBREVIATION [DOID:0110323, MONDO:Lexical, OMIM:613873] synonym: "hypertrophic cardiomyopathy caused by mutation in JPH2" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 17" EXACT [DOID:0110323, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 17" EXACT [MONDORULE:2] synonym: "JPH2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110323 {source="MONDO:equivalentTo"} xref: MEDGEN:462614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -308991,12 +309044,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy familial hypertrophic 18" EXACT [DOID:0110324] -synonym: "cardiomyopathy, familial hypertrophic, 18" RELATED [MONDO:Lexical, OMIM:613874] -synonym: "cardiomyopathy, familial hypertrophic, type 18" EXACT [MONDORULE:2, OMIM:613874] -synonym: "cardiomyopathy, hypertrophic, 18" EXACT [OMIM:613874, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 18" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 18" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, hypertrophic, 18" EXACT [] synonym: "CMH18" EXACT ABBREVIATION [DOID:0110324, MONDO:Lexical, OMIM:613874] synonym: "hypertrophic cardiomyopathy caused by mutation in PLN" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 18" EXACT [DOID:0110324, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 18" EXACT [MONDORULE:2] synonym: "PLN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110324 {source="MONDO:equivalentTo"} xref: MEDGEN:462615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -309018,12 +309071,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CALR3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cardiomyopathy familial hypertrophic 19" EXACT [DOID:0110325] -synonym: "cardiomyopathy, familial hypertrophic, 19" RELATED [MONDO:Lexical, OMIM:613875] -synonym: "cardiomyopathy, familial hypertrophic, type 19" EXACT [MONDORULE:2, OMIM:613875] -synonym: "CMH19" EXACT ABBREVIATION [DOID:0110325, MONDO:Lexical, OMIM:613875] +synonym: "cardiomyopathy familial hypertrophic 19" EXACT [] +synonym: "cardiomyopathy, familial hypertrophic, 19" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 19" EXACT [MONDORULE:2] +synonym: "CMH19" EXACT ABBREVIATION [MONDO:Lexical] synonym: "hypertrophic cardiomyopathy caused by mutation in CALR3" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 19" EXACT [DOID:0110325, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 19" EXACT [MONDORULE:2] xref: DOID:0110325 {source="MONDO:equivalentObsolete"} xref: OMIM:613875 {source="DOID:0110325", source="MONDO:equivalentObsolete"} xref: Orphanet:155 {source="OMIM:613875"} @@ -309042,12 +309095,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathy familial hypertrophic 20" EXACT [DOID:0110326] -synonym: "cardiomyopathy, familial hypertrophic, 20" RELATED [MONDO:Lexical, OMIM:613876] -synonym: "cardiomyopathy, familial hypertrophic, type 20" EXACT [MONDORULE:2, OMIM:613876] -synonym: "cardiomyopathy, hypertrophic, 20" EXACT [OMIM:613876, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 20" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, familial hypertrophic, type 20" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, hypertrophic, 20" EXACT [] synonym: "CMH20" EXACT ABBREVIATION [DOID:0110326, MONDO:Lexical, OMIM:613876] synonym: "hypertrophic cardiomyopathy caused by mutation in NEXN" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 20" EXACT [DOID:0110326, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 20" EXACT [MONDORULE:2] synonym: "NEXN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110326 {source="MONDO:equivalentTo"} xref: MEDGEN:462617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -309073,10 +309126,10 @@ subset: rare synonym: "familial partial lipodystrophy associated with PLIN1 mutations" RELATED [GARD:0012601] synonym: "familial partial lipodystrophy type 4" RELATED [GARD:0012601] synonym: "FPLD due to PLIN1 mutations" RELATED [GARD:0012601] -synonym: "FPLD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613877, Orphanet:280356] -synonym: "lipodystrophy, familial partial, associated with Plin1 mutations" RELATED [OMIM:613877] -synonym: "lipodystrophy, familial partial, type 4" RELATED [MONDO:Lexical, OMIM:613877] -synonym: "PLIN1-related FPLD" EXACT [Orphanet:280356] +synonym: "FPLD4" EXACT ABBREVIATION [DOID:0070205, MONDO:Lexical, OMIM:613877, Orphanet:280356] +synonym: "lipodystrophy, familial partial, associated with Plin1 mutations" RELATED [] +synonym: "lipodystrophy, familial partial, type 4" RELATED [MONDO:Lexical] +synonym: "PLIN1-related FPLD" EXACT [DOID:0070205, Orphanet:280356] xref: DOID:0070205 {source="MONDO:equivalentTo"} xref: GARD:12601 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="Orphanet:280356/attributed", source="Orphanet:280356/ntbt", source="Orphanet:280356"} @@ -309097,10 +309150,10 @@ subset: gard_rare {source="GARD:15726", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BAG3 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cardiomyopathy, dilated, 1HH" RELATED [MONDO:Lexical, OMIM:613881] -synonym: "cardiomyopathy, dilated, type 1Hh" EXACT [MONDORULE:9, OMIM:613881] +synonym: "cardiomyopathy, dilated, 1HH" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Hh" EXACT [MONDORULE:9] synonym: "CMD1HH" EXACT ABBREVIATION [DOID:0110448, MONDO:Lexical, OMIM:613881] -synonym: "dilated cardiomyopathy type 1HH" EXACT [DOID:0110448, MONDORULE:9] +synonym: "dilated cardiomyopathy type 1HH" EXACT [MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in BAG3" EXACT [MONDO:design_pattern] xref: DOID:0110448 {source="MONDO:equivalentTo"} xref: GARD:15726 {source="MONDO:GARD"} @@ -309119,8 +309172,8 @@ subset: gard_rare {source="GARD:12155", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "HOMG6" EXACT ABBREVIATION [DOID:0060884, MONDO:Lexical, OMIM:613882] -synonym: "hypomagnesemia 6, renal" RELATED [MONDO:Lexical, OMIM:613882] -synonym: "renal hypomagnesemia type 6" EXACT [DOID:0060884, MONDORULE:1] +synonym: "hypomagnesemia 6, renal" RELATED [MONDO:Lexical] +synonym: "renal hypomagnesemia type 6" EXACT [MONDORULE:1] synonym: "renal hypomagnesemia-6" RELATED [GARD:0012155] xref: DOID:0060884 {source="MONDO:equivalentTo"} xref: GARD:12155 {source="MONDO:GARD"} @@ -309145,14 +309198,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:1587"} subset: orphanet_rare {source="Orphanet:1587"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 13Q deletion syndrome" RELATED [OMIM:613884] -synonym: "chromosome 13q14 deletion syndrome" EXACT [OMIM:613884] -synonym: "chromosome 13q14 deletion syndrome, isolated cases" EXACT [OMIM:613884, OMIM:genemap2] -synonym: "Del(13)(q14)" EXACT [Orphanet:1587] +synonym: "chromosome 13Q deletion syndrome" RELATED [] +synonym: "chromosome 13q14 deletion syndrome" EXACT [DOID:0060391, OMIM:613884] +synonym: "chromosome 13q14 deletion syndrome, isolated cases" EXACT [] +synonym: "Del(13)(q14)" EXACT [NCIT:C36421, Orphanet:1587] synonym: "del(13q14)" EXACT [NCIT:C36421] synonym: "deletion 13q14" EXACT [DOID:0060391, Orphanet:1587] -synonym: "monosomy 13q14" RELATED [Orphanet:1587] -synonym: "monosomy type 13q14" EXACT [MONDORULE:7, Orphanet:1587] +synonym: "monosomy 13q14" RELATED [] +synonym: "monosomy type 13q14" EXACT [MONDORULE:7] xref: DOID:0060391 {source="MONDO:equivalentTo"} xref: GARD:16570 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:1587/attributed", source="Orphanet:1587/ntbt", source="Orphanet:1587", source="DOID:0060391"} @@ -309179,7 +309232,7 @@ name: Meckel syndrome, type 8 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15727", source="MONDO:GARD"} subset: rare -synonym: "Meckel syndrome 8" RELATED [DOID:0070122] +synonym: "Meckel syndrome 8" RELATED [] synonym: "Meckel syndrome caused by mutation in TCTN2" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613885] synonym: "Meckel-Gruber syndrome, type 8" EXACT [DOID:0070122] @@ -309203,7 +309256,7 @@ id: MONDO:0013483 name: obesity, hyperphagia, and developmental delay subset: otar {source="MONDO:OTAR"} synonym: "obesity, hyperphagia, and developmental delay" EXACT [MONDO:Lexical, OMIM:613886] -synonym: "OBHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613886] +synonym: "OBHD" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:462653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563938 {source="MONDO:equivalentTo"} xref: OMIM:613886 {source="MONDO:equivalentTo"} @@ -309217,9 +309270,9 @@ name: cataract 36 def: "Any cataract in which the cause of the disease is a mutation in the TDRD7 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive congenital cataract 4" EXACT [DOID:0110247] synonym: "cataract (disease) caused by mutation in TDRD7" EXACT [] -synonym: "cataract 36" EXACT [MONDO:Lexical, OMIM:613887] -synonym: "cataract type 36" EXACT [DOID:0110247, MONDORULE:2, OMIM:613887] -synonym: "cataract, autosomal recessive congenital 4" RELATED [OMIM:613887] +synonym: "cataract 36" EXACT [DOID:0110247, MONDO:Lexical, OMIM:613887] +synonym: "cataract type 36" EXACT [MONDORULE:2] +synonym: "cataract, autosomal recessive congenital 4" RELATED [] synonym: "CATC4" EXACT ABBREVIATION [DOID:0110247] synonym: "CTRCT36" EXACT ABBREVIATION [DOID:0110247, MONDO:Lexical, OMIM:613887] synonym: "TDRD7 cataract (disease)" EXACT [MONDO:patterns/disease_series_by_gene] @@ -309244,8 +309297,8 @@ subset: orphanet_rare {source="Orphanet:276193"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA35" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613908, Orphanet:276193] -synonym: "spinocerebellar ataxia 35" RELATED [MONDO:Lexical, OMIM:613908] -synonym: "spinocerebellar ataxia type 35" EXACT [MONDORULE:2, OMIM:613908] +synonym: "spinocerebellar ataxia 35" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 35" EXACT [DOID:0050982, icd11.foundation:1674449075, MONDORULE:2, Orphanet:276193] xref: DOID:0050982 {source="MONDO:equivalentTo"} xref: GARD:12366 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:276193/attributed", source="Orphanet:276193/ntbt", source="Orphanet:276193"} @@ -309270,7 +309323,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebellar ataxia with azoospermia and intellectual disability" EXACT [Orphanet:276183] synonym: "SCA32" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613909, Orphanet:276183] -synonym: "spinocerebellar ataxia 32" RELATED [MONDO:Lexical, OMIM:613909] +synonym: "spinocerebellar ataxia 32" RELATED [MONDO:Lexical] xref: GARD:17276 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:276183/attributed", source="Orphanet:276183/ntbt", source="Orphanet:276183"} xref: icd11.foundation:1372046516 {source="MONDO:equivalentTo"} @@ -309290,10 +309343,10 @@ subset: ordo_disorder {source="Orphanet:169467"} subset: orphanet_rare {source="Orphanet:169467"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CFDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613912] -synonym: "complement factor D deficiency" RELATED [MONDO:Lexical, OMIM:613912] -synonym: "factor D deficiency" RELATED [OMIM:613912] -synonym: "recurrent Neisseria infections due to factor D deficiency" EXACT CLINGEN_LABEL [] +synonym: "CFDD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "complement factor D deficiency" RELATED [MONDO:Lexical] +synonym: "factor D deficiency" RELATED [] +synonym: "recurrent Neisseria infections due to factor D deficiency" EXACT CLINGEN_LABEL [icd11.foundation:528757185, Orphanet:169467] xref: GARD:17055 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="Orphanet:169467", source="Orphanet:169467/attributed", source="Orphanet:169467/ntbt"} xref: icd11.foundation:528757185 {source="MONDO:equivalentTo"} @@ -309312,8 +309365,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013488 name: lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis synonym: "APLDC3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613913] -synonym: "lipodystrophy, partial, acquired, associated with C3 nephritic Factor" RELATED [OMIM:613913] -synonym: "lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis" RELATED [MONDO:Lexical, OMIM:613913] +synonym: "lipodystrophy, partial, acquired, associated with C3 nephritic Factor" RELATED [] +synonym: "lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis" RELATED [MONDO:Lexical] xref: MEDGEN:462697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613913 {source="MONDO:equivalentTo"} xref: UMLS:C3151347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462697"} @@ -309326,14 +309379,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22640", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 89" NARROW [DOID:0110534] -synonym: "autosomal recessive nonsyndromic deafness 89" NARROW [OMIM:613916] +synonym: "autosomal recessive deafness 89" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 89" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in KARS" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 89" NARROW [DOID:0110534, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 89" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 89" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 89" NARROW [MONDO:Lexical, OMIM:613916, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 89" NARROW [MONDORULE:2, OMIM:613916] -synonym: "DFNB89" NARROW ABBREVIATION [DOID:0110534, MONDO:Lexical, OMIM:613916] +synonym: "deafness, autosomal recessive 89" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 89" NARROW [MONDORULE:2] +synonym: "DFNB89" NARROW ABBREVIATION [MONDO:Lexical] synonym: "KARS autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110534 {source="MONDO:equivalentTo"} xref: GARD:22640 {source="MONDO:GARD"} @@ -309356,9 +309409,9 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15728", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2A" EXACT [MONDO:Lexical, OMIM:613925] -synonym: "megalencephalic leukoencephalopathy with subcortical cysts type 2A" EXACT [MONDORULE:4, OMIM:613925] -synonym: "MLC2A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613925] +synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2A" EXACT [DOID:0080318, MONDO:Lexical, OMIM:613925] +synonym: "megalencephalic leukoencephalopathy with subcortical cysts type 2A" EXACT [MONDORULE:4] +synonym: "MLC2A" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080318 {source="MONDO:equivalentTo"} xref: GARD:15728 {source="MONDO:GARD"} xref: MEDGEN:462705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -309377,9 +309430,9 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15729", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability" EXACT [MONDO:Lexical, OMIM:613926] -synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:613926] -synonym: "MLC2B" RELATED DEPRECATED [MONDO:Lexical, OMIM:613926] +synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability" EXACT [MONDO:Lexical] +synonym: "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" EXACT DEPRECATED [DOID:0080317, MONDO:Lexical] +synonym: "MLC2B" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0080317 {source="MONDO:equivalentTo"} xref: GARD:15729 {source="MONDO:GARD"} xref: MEDGEN:462706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -309398,7 +309451,7 @@ subset: gard_rare {source="GARD:15730", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "alopecia-intellectual disability syndrome 3" EXACT [MONDO:Lexical, OMIM:613930] -synonym: "alopecia-mental retardation syndrome 3" RELATED DEPRECATED [MONDO:Lexical, OMIM:613930] +synonym: "alopecia-mental retardation syndrome 3" RELATED DEPRECATED [MONDO:Lexical] synonym: "APMR3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613930] xref: DOID:0080951 {source="MONDO:equivalentTo"} xref: GARD:15730 {source="MONDO:GARD"} @@ -309411,10 +309464,10 @@ is_a: MONDO:0008756 {source="DOID:0080951", source="OMIM:613930"} ! alopecia - i [Term] id: MONDO:0013493 name: acetyl-coa carboxylase deficiency -synonym: "Acaca deficiency" RELATED [OMIM:613933] +synonym: "Acaca deficiency" RELATED [] synonym: "ACACAD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613933] -synonym: "Acc1 deficiency" RELATED [OMIM:613933] -synonym: "ACETYL-CoA carboxylase deficiency" RELATED [MONDO:Lexical, OMIM:613933] +synonym: "Acc1 deficiency" RELATED [] +synonym: "ACETYL-CoA carboxylase deficiency" RELATED [MONDO:Lexical] xref: MEDGEN:124338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562678 {source="MONDO:equivalentTo"} xref: OMIM:613933 {source="MONDO:equivalentTo"} @@ -309438,13 +309491,13 @@ subset: gard_rare {source="GARD:16457", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARCI8" EXACT ABBREVIATION [DOID:0060717, MONDO:Lexical, OMIM:613943] -synonym: "autosomal recessive congenital ichthyosis type 8" EXACT [DOID:0060717, MONDORULE:1] -synonym: "ichthyosis, congenital, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:613943] -synonym: "ichthyosis, congenital, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:613943] -synonym: "ichthyosis, lamellar, 4" RELATED [OMIM:613943] -synonym: "ichthyosis, lamellar, 4, formerly" RELATED [OMIM:613943] +synonym: "autosomal recessive congenital ichthyosis type 8" EXACT [MONDORULE:1] +synonym: "ichthyosis, congenital, autosomal recessive 8" RELATED [MONDO:Lexical] +synonym: "ichthyosis, congenital, autosomal recessive type 8" EXACT [MONDORULE:1] +synonym: "ichthyosis, lamellar, 4" RELATED [] +synonym: "ichthyosis, lamellar, 4, formerly" RELATED [] synonym: "lamellar ichthyosis 4" EXACT [DOID:0060717] -synonym: "lamellar ichthyosis, late-onset" RELATED [OMIM:613943] +synonym: "lamellar ichthyosis, late-onset" RELATED [] synonym: "late-onset lamellar ichthyosis" EXACT [DOID:0060717] xref: DOID:0060717 {source="MONDO:equivalentTo"} xref: GARD:16457 {source="MONDO:GARD"} @@ -309482,7 +309535,7 @@ id: MONDO:0013497 name: Okt4 epitope deficiency subset: otar {source="MONDO:OTAR"} synonym: "Okt4 epitope deficiency" EXACT [OMIM:613949] -synonym: "T4 epitope deficiency" RELATED [OMIM:613949] +synonym: "T4 epitope deficiency" RELATED [] xref: MEDGEN:462729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613949 {source="MONDO:equivalentTo"} xref: UMLS:C3151379 {source="MEDGEN:462729", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -309493,10 +309546,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013498 name: schizophrenia 15 def: "A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33." [DOID:0070091] -synonym: "schizophrenia 15" EXACT [MONDO:Lexical, OMIM:613950] -synonym: "schizophrenia 15 with or without an affective disorder" RELATED [OMIM:613950] -synonym: "schizophrenia susceptibility locus, chromosome 22Q13-related" RELATED [OMIM:613950] -synonym: "schizophrenia type 15" EXACT [MONDORULE:2, OMIM:613950] +synonym: "schizophrenia 15" EXACT [DOID:0070091, MONDO:Lexical, OMIM:613950] +synonym: "schizophrenia 15 with or without an affective disorder" RELATED [] +synonym: "schizophrenia susceptibility locus, chromosome 22Q13-related" RELATED [] +synonym: "schizophrenia type 15" EXACT [MONDORULE:2] synonym: "SCZD15" EXACT ABBREVIATION [DOID:0070091, MONDO:Lexical, OMIM:613950] xref: DOID:0070091 {source="MONDO:equivalentTo"} xref: MEDGEN:462730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -309520,9 +309573,9 @@ synonym: "Fanconi anaemia caused by mutation in Slx4" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type P" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in SLX4" EXACT [] synonym: "Fanconi anemia caused by mutation in Slx4" EXACT [MONDO:design_pattern] -synonym: "Fanconi anemia complementation group type P" EXACT [DOID:0111092, MONDORULE:1] -synonym: "Fanconi anemia, complementation group P" RELATED [MONDO:Lexical, OMIM:613951] -synonym: "Fanconi Anemia, complementation group type P" EXACT [MONDORULE:1, OMIM:613951] +synonym: "Fanconi anemia complementation group type P" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group P" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type P" EXACT [MONDORULE:1] synonym: "FANCP" EXACT ABBREVIATION [DOID:0111092, MONDO:Lexical, OMIM:613951] synonym: "SLX4 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "Slx4 Fanconi anaemia" EXACT OMO:0003005 [] @@ -309545,13 +309598,13 @@ subset: gard_rare {source="GARD:15732", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CANDF5" RELATED DEPRECATED [MONDO:Lexical, OMIM:613953] -synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED DEPRECATED [OMIM:613953] -synonym: "candidiasis, familial, 5" RELATED DEPRECATED [MONDO:Lexical, OMIM:613953] -synonym: "candidiasis, familial, 5, formerly" RELATED [OMIM:613953] -synonym: "candidiasis, familial, type 5" RELATED DEPRECATED [MONDORULE:1, OMIM:613953] -synonym: "IMD51" RELATED ABBREVIATION [OMIM:613953] -synonym: "immunodeficiency 51" EXACT CLINGEN_LABEL [OMIM:613953] +synonym: "CANDF5" RELATED DEPRECATED [MONDO:Lexical] +synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED DEPRECATED [] +synonym: "candidiasis, familial, 5" RELATED DEPRECATED [MONDO:Lexical] +synonym: "candidiasis, familial, 5, formerly" RELATED [] +synonym: "candidiasis, familial, type 5" RELATED DEPRECATED [MONDORULE:1] +synonym: "IMD51" RELATED ABBREVIATION [] +synonym: "immunodeficiency 51" EXACT CLINGEN_LABEL [DOID:0111996, OMIM:613953] xref: DOID:0111996 {source="MONDO:equivalentTo"} xref: GARD:15732 {source="MONDO:GARD"} xref: MEDGEN:934770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -309569,11 +309622,11 @@ def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a m subset: gard_rare {source="GARD:15733", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ALS14" RELATED EXCLUDE [DOID:0060205, MONDO:Lexical, OMIM:613954] -synonym: "amyotrophic lateral sclerosis 14" RELATED EXCLUDE [DOID:0060205, OMIM:613954] -synonym: "amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, formerly" RELATED EXCLUDE [MONDO:Lexical, OMIM:613954] +synonym: "ALS14" RELATED EXCLUDE [MONDO:Lexical] +synonym: "amyotrophic lateral sclerosis 14" RELATED EXCLUDE [] +synonym: "amyotrophic lateral sclerosis 14 with or without frontotemporal dementia, formerly" RELATED EXCLUDE [MONDO:Lexical] synonym: "amyotrophic lateral sclerosis caused by mutation in VCP" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT [DOID:0060205, OMIM:613954] +synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT [DOID:0060205] synonym: "VCP amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060205 {source="MONDO:equivalentTo"} xref: GARD:15733 {source="MONDO:GARD"} @@ -309596,8 +309649,8 @@ subset: gard_rare {source="GARD:18638", source="MONDO:GARD"} subset: rare synonym: "amyloidosis, primary localised cutaneous, type 2" EXACT OMO:0003005 [] synonym: "amyloidosis, primary localized cutaneous, 2" EXACT [MONDO:Lexical, OMIM:613955] -synonym: "amyloidosis, primary localized cutaneous, type 2" EXACT [MONDORULE:1, OMIM:613955] -synonym: "PLCA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613955] +synonym: "amyloidosis, primary localized cutaneous, type 2" EXACT [MONDORULE:1] +synonym: "PLCA2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080931 {source="MONDO:equivalentTo"} xref: GARD:18638 {source="MONDO:GARD"} xref: MEDGEN:462754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -309616,11 +309669,11 @@ def: "Any familial chronic mucocutaneous candidiasis in which the cause of the d subset: gard_rare {source="GARD:15093", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CANDF6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613956] -synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant" RELATED [OMIM:613956] +synonym: "CANDF6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant" RELATED [] synonym: "candidiasis, familial, 6" EXACT [MONDO:Lexical, OMIM:613956] -synonym: "candidiasis, familial, 6, autosomal dominant" EXACT [OMIM:613956, OMIM:genemap2] -synonym: "candidiasis, familial, type 6" EXACT [MONDORULE:1, OMIM:613956] +synonym: "candidiasis, familial, 6, autosomal dominant" EXACT [] +synonym: "candidiasis, familial, type 6" EXACT [MONDORULE:1] synonym: "familial chronic mucocutaneous candidiasis caused by mutation in IL17F" EXACT [MONDO:design_pattern] synonym: "IL17F familial chronic mucocutaneous candidiasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15093 {source="MONDO:GARD"} @@ -309641,9 +309694,9 @@ subset: gard_rare {source="GARD:15734", source="MONDO:GARD"} subset: rare synonym: "azoospermia caused by mutation in NR5A1" EXACT [MONDO:design_pattern] synonym: "NR5A1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spermatogenic failure 8" EXACT [MONDO:Lexical, OMIM:613957] -synonym: "spermatogenic failure type 8" EXACT [MONDORULE:1, OMIM:613957] -synonym: "SPGF8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613957] +synonym: "spermatogenic failure 8" EXACT [DOID:0070169, MONDO:Lexical, OMIM:613957] +synonym: "spermatogenic failure type 8" EXACT [MONDORULE:1] +synonym: "SPGF8" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070169 {source="MONDO:equivalentTo"} xref: GARD:15734 {source="MONDO:GARD"} xref: MEDGEN:462756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -309665,11 +309718,11 @@ subset: gard_rare {source="GARD:15735", source="MONDO:GARD"} subset: rare synonym: "azoospermia caused by mutation in DPY19L2" EXACT [MONDO:design_pattern] synonym: "DPY19L2 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "globozoospermia, complete" RELATED [OMIM:613958] -synonym: "globozoospermia, total" RELATED [OMIM:613958] -synonym: "spermatogenic failure 9" EXACT [MONDO:Lexical, OMIM:613958] -synonym: "spermatogenic failure type 9" EXACT [MONDORULE:1, OMIM:613958] -synonym: "SPGF9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613958] +synonym: "globozoospermia, complete" RELATED [] +synonym: "globozoospermia, total" RELATED [] +synonym: "spermatogenic failure 9" EXACT [DOID:0111156, MONDO:Lexical, OMIM:613958] +synonym: "spermatogenic failure type 9" EXACT [MONDORULE:1] +synonym: "SPGF9" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070175 {source="MONDO:equivalentObsolete"} xref: DOID:0111156 {source="MONDO:equivalentTo"} xref: GARD:15735 {source="MONDO:GARD"} @@ -309690,10 +309743,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013506 name: schizophrenia 16 def: "A schizophrenia that has material basis in a mutation on chromosome 7q36.3." [DOID:0070092] -synonym: "chromosome 7Q36.3 Duplication syndrome, 362-Kb" RELATED [OMIM:613959] -synonym: "schizophrenia 16" EXACT [MONDO:Lexical, OMIM:613959] -synonym: "schizophrenia susceptibility locus, chromosome 7Q36.3-related" RELATED [OMIM:613959] -synonym: "schizophrenia type 16" EXACT [MONDORULE:2, OMIM:613959] +synonym: "chromosome 7Q36.3 Duplication syndrome, 362-Kb" RELATED [] +synonym: "schizophrenia 16" EXACT [DOID:0070092, MONDO:Lexical, OMIM:613959] +synonym: "schizophrenia susceptibility locus, chromosome 7Q36.3-related" RELATED [] +synonym: "schizophrenia type 16" EXACT [MONDORULE:2] synonym: "SCZD16" EXACT ABBREVIATION [DOID:0070092, MONDO:Lexical, OMIM:613959] xref: DOID:0070092 {source="MONDO:equivalentTo"} xref: MEDGEN:462758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -309708,12 +309761,12 @@ name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive subset: gard_rare {source="GARD:15736", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CDG3" RELATED ABBREVIATION [OMIM:613960] -synonym: "CGD, autosomal recessive cytochrome B-positive, type 3" RELATED [OMIM:613960] -synonym: "chronic granulomatous disease 3, autosomal recessive" EXACT [OMIM:613960, OMIM:genemap2] -synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3" EXACT CLINGEN_LABEL [] -synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III" RELATED [OMIM:613960] -synonym: "granulomatous disease, chronic, due to Ncf4 deficiency" RELATED [OMIM:613960] +synonym: "CDG3" RELATED ABBREVIATION [] +synonym: "CGD, autosomal recessive cytochrome B-positive, type 3" RELATED [] +synonym: "chronic granulomatous disease 3, autosomal recessive" EXACT [] +synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3" EXACT CLINGEN_LABEL [OMIM:613960] +synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III" RELATED [] +synonym: "granulomatous disease, chronic, due to Ncf4 deficiency" RELATED [] xref: DOID:0070194 {source="MONDO:equivalentTo"} xref: GARD:15736 {source="MONDO:GARD"} xref: MEDGEN:462759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -309742,18 +309795,18 @@ name: intellectual disability, autosomal dominant 6 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:12851", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant intellectual disability 6" EXACT [DOID:0070036] +synonym: "autosomal dominant intellectual disability 6" EXACT [] synonym: "autosomal dominant mental retardation 6" EXACT DEPRECATED [DOID:0070036] -synonym: "autosomal dominant non-syndromic intellectual disability 6" RELATED [DOID:0070036] +synonym: "autosomal dominant non-syndromic intellectual disability 6" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B" EXACT [MONDO:design_pattern] synonym: "GRIN2B autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, autosomal dominant 6, with or without seizures" EXACT [OMIM:613970, OMIM:genemap2] -synonym: "intellectual disability, autosomal dominant 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613970] -synonym: "intellectual disability, autosomal dominant 6, with or without seizures" RELATED [OMIM:613970] -synonym: "intellectual disability, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:613970] -synonym: "mental retardation, autosomal dominant 6" RELATED DEPRECATED [MONDO:Lexical, OMIM:613970] -synonym: "mental retardation, autosomal dominant 6, with or without seizures" RELATED DEPRECATED [OMIM:613970] -synonym: "mental retardation, autosomal dominant type 6" EXACT DEPRECATED [MONDORULE:1, OMIM:613970] +synonym: "intellectual developmental disorder, autosomal dominant 6, with or without seizures" EXACT [OMIM:613970] +synonym: "intellectual disability, autosomal dominant 6" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant 6, with or without seizures" RELATED [] +synonym: "intellectual disability, autosomal dominant type 6" EXACT [MONDORULE:1] +synonym: "mental retardation, autosomal dominant 6" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant 6, with or without seizures" RELATED DEPRECATED [] +synonym: "mental retardation, autosomal dominant type 6" EXACT DEPRECATED [MONDORULE:1] synonym: "MRD6" EXACT ABBREVIATION [DOID:0070036, MONDO:Lexical, OMIM:613970] xref: DOID:0070036 {source="MONDO:equivalentTo"} xref: GARD:12851 {source="MONDO:GARD"} @@ -309773,11 +309826,11 @@ name: melanoma, cutaneous malignant, susceptibility to, 6 subset: inferred_rare subset: predisposition subset: rare -synonym: "CMM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613972] -synonym: "melanoma, cutaneous malignant, 6" EXACT [OMIM:613972, OMIM:genemap2] +synonym: "CMM6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "melanoma, cutaneous malignant, 6" EXACT [] synonym: "melanoma, cutaneous malignant, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613972] -synonym: "melanoma, cutaneous malignant, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:613972] -synonym: "susceptibility to cutaneous malignant melanoma 6" RELATED [OMIM:613972] +synonym: "melanoma, cutaneous malignant, susceptibility to, type 6" EXACT [MONDORULE:1] +synonym: "susceptibility to cutaneous malignant melanoma 6" RELATED [] xref: MEDGEN:462767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613972 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:613972"} @@ -309798,7 +309851,7 @@ id: MONDO:0013511 name: cyanosis, transient neonatal subset: otar {source="MONDO:OTAR"} synonym: "cyanosis, transient neonatal" EXACT [MONDO:Lexical, OMIM:613977] -synonym: "TNCY" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613977] +synonym: "TNCY" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:462771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613977 {source="MONDO:equivalentTo"} xref: Orphanet:280615 {source="OMIM:613977"} @@ -309815,27 +309868,28 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93616"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alpha thalassemia, haemoglobin H type" EXACT OMO:0003005 [] +synonym: "alpha thalassemia, haemoglobin H type" EXACT OMO:0003005 [DOID:0110031] synonym: "alpha thalassemia, hemoglobin H type" EXACT [DOID:0110031] -synonym: "Alpha-thalassemia intermedia" EXACT [Orphanet:93616] -synonym: "alpha-thalassemia intermedia" EXACT [DOID:0110031] +synonym: "Alpha-thalassemia intermedia" EXACT [DOID:0110031, Orphanet:93616] +synonym: "alpha-thalassemia intermedia" EXACT [DOID:0110031, Orphanet:93616] synonym: "Alpha-thalassemia, Haemoglobin H type" RELATED OMO:0003005 [] -synonym: "Alpha-thalassemia, Hemoglobin H type" RELATED [OMIM:613978] +synonym: "Alpha-thalassemia, Hemoglobin H type" RELATED [] synonym: "Haemoglobin H disease, Deletional" RELATED OMO:0003005 [] -synonym: "haemoglobin H disease, deletional" EXACT OMO:0003005 [] +synonym: "haemoglobin H disease, deletional" EXACT OMO:0003005 [DOID:0110031] synonym: "haemoglobin H disease, deletional and nondeletional" EXACT OMO:0003005 [] synonym: "Haemoglobin H disease, Nondeletional" RELATED OMO:0003005 [] synonym: "HBA1;HBA2 digenic triallelic hemoglobin H disease" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/] -synonym: "HbH" EXACT [DOID:0110031, MONDO:Lexical, OMIM:613978] +synonym: "HBH" EXACT ABBREVIATION [DOID:0110031, OMIM:613978] +synonym: "HbH" EXACT [MONDO:Lexical] synonym: "HbH disease" EXACT [Orphanet:93616] -synonym: "HEMOGLOBIN H disease" RELATED [OMIM:613978] -synonym: "hemoglobin H disease" EXACT [MONDO:Lexical, OMIM:613978] +synonym: "HEMOGLOBIN H disease" RELATED [] +synonym: "hemoglobin H disease" EXACT [DOID:0110031, MONDO:Lexical, NCIT:C95504, OMIM:613978, Orphanet:93616] synonym: "hemoglobin H disease caused by triallelic variation in HBA1;HBA2" EXACT [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/] synonym: "hemoglobin H disease related to triallelic variation in HBA1 and HBA2" EXACT [https://www.clinicalgenome.org/affiliation/40026/, https://www.clinicalgenome.org/affiliation/50052/, https://www.clinicalgenome.org/working-groups/disease-naming-advisory-committee/] -synonym: "Hemoglobin H disease, Deletional" RELATED [OMIM:613978] -synonym: "hemoglobin H disease, deletional" EXACT [DOID:0110031] -synonym: "hemoglobin H disease, deletional and nondeletional" EXACT [OMIM:613978, OMIM:genemap2] -synonym: "Hemoglobin H disease, Nondeletional" RELATED [OMIM:613978] +synonym: "Hemoglobin H disease, Deletional" RELATED [] +synonym: "hemoglobin H disease, deletional" EXACT [DOID:0110031, OMIM:613978] +synonym: "hemoglobin H disease, deletional and nondeletional" EXACT [] +synonym: "Hemoglobin H disease, Nondeletional" RELATED [] xref: DOID:0110031 {source="MONDO:equivalentTo"} xref: GARD:16829 {source="MONDO:GARD"} xref: ICD10CM:D56.0 {source="DOID:0110031", source="Orphanet:93616/attributed", source="Orphanet:93616/ntbt", source="Orphanet:93616"} @@ -309859,9 +309913,9 @@ name: atrial fibrillation, familial, 9 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15737", source="MONDO:GARD"} subset: rare -synonym: "ATFB9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613980] +synonym: "ATFB9" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrial fibrillation, familial, 9" EXACT [MONDO:Lexical, OMIM:613980] -synonym: "atrial fibrillation, familial, type 9" EXACT [MONDORULE:1, OMIM:613980] +synonym: "atrial fibrillation, familial, type 9" EXACT [MONDORULE:1] synonym: "familial atrial fibrillation caused by mutation in KCNJ2" EXACT [MONDO:design_pattern] synonym: "KCNJ2 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15737 {source="MONDO:GARD"} @@ -309880,13 +309934,14 @@ name: hypotrichosis 3 def: "Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18094", source="MONDO:GARD"} subset: rare -synonym: "Htss2" EXACT [DOID:0110700] -synonym: "hypotrichosis 3" EXACT [MONDO:Lexical, OMIM:613981] +synonym: "HTSS2" EXACT ABBREVIATION [DOID:0110700] +synonym: "Htss2" EXACT [] +synonym: "hypotrichosis 3" EXACT [DOID:0110700, MONDO:Lexical, OMIM:613981] synonym: "hypotrichosis caused by mutation in KRT74" EXACT [MONDO:design_pattern] synonym: "hypotrichosis simplex of the scalp 2" EXACT [DOID:0110700, OMIM:613981] -synonym: "hypotrichosis type 3" EXACT [DOID:0110700, MONDORULE:1, OMIM:613981] -synonym: "HYPT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613981] -synonym: "hypt3" EXACT [DOID:0110700] +synonym: "hypotrichosis type 3" EXACT [MONDORULE:1] +synonym: "HYPT3" EXACT ABBREVIATION [DOID:0110700, OMIM:613981] +synonym: "hypt3" EXACT [] synonym: "KRT74 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110700 {source="MONDO:equivalentTo"} xref: GARD:18094 {source="MONDO:GARD"} @@ -309913,8 +309968,8 @@ synonym: "OI6" EXACT ABBREVIATION [DOID:0110350, MONDO:Lexical, OMIM:613982] synonym: "osteogenesis imperfecta caused by mutation in SERPINF1" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type" RELATED [GARD:0008700] synonym: "osteogenesis imperfecta type VI" EXACT [DOID:0110350] -synonym: "osteogenesis imperfecta, type 6" RELATED [OMIM:613982] -synonym: "osteogenesis imperfecta, type VI" RELATED [MONDO:Lexical, OMIM:613982] +synonym: "osteogenesis imperfecta, type 6" RELATED [] +synonym: "osteogenesis imperfecta, type VI" RELATED [MONDO:Lexical] synonym: "SERPINF1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SERPINFI- related osteogenesis imperfecta" RELATED [GARD:0008700] xref: DOID:0110350 {source="MONDO:equivalentTo"} @@ -309941,9 +309996,9 @@ subset: gard_rare {source="GARD:15738", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PRPF6 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 60" EXACT [MONDO:Lexical, OMIM:613983] +synonym: "retinitis pigmentosa 60" EXACT [DOID:0110411, MONDO:Lexical, OMIM:613983] synonym: "retinitis pigmentosa caused by mutation in PRPF6" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 60" EXACT [DOID:0110411, MONDORULE:2, OMIM:613983] +synonym: "retinitis pigmentosa type 60" EXACT [MONDORULE:2] synonym: "RP60" EXACT ABBREVIATION [DOID:0110411, MONDO:Lexical, OMIM:613983] xref: DOID:0110411 {source="MONDO:equivalentTo"} xref: GARD:15738 {source="MONDO:GARD"} @@ -309966,9 +310021,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "beta-thalassemia" RELATED [OMIM:613985] -synonym: "thalassemia, beta" EXACT [OMIM:613985, OMIM:genemap2] -synonym: "thalassemia, hispanic gamma-delta-beta" EXACT [OMIM:613985, OMIM:genemap2] +synonym: "beta-thalassemia" RELATED [] +synonym: "thalassemia, beta" EXACT [] +synonym: "thalassemia, hispanic gamma-delta-beta" EXACT [] xref: OMIM:613985 {source="MONDO:equivalentTo"} xref: Orphanet:231214 {source="OMIM:613985"} xref: Orphanet:231222 {source="OMIM:613985"} @@ -309987,10 +310042,10 @@ subset: gard_rare {source="GARD:16520", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2" EXACT [MONDO:design_pattern] -synonym: "CPHD6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:613986] +synonym: "CPHD6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "OTX2 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pituitary hormone deficiency, combined, 6" EXACT [MONDO:Lexical, OMIM:613986] -synonym: "pituitary hormone deficiency, combined, type 6" EXACT [MONDORULE:1, OMIM:613986] +synonym: "pituitary hormone deficiency, combined, type 6" EXACT [MONDORULE:1] xref: GARD:16520 {source="MONDO:GARD"} xref: MEDGEN:462790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613986 {source="MONDO:equivalentTo"} @@ -310008,10 +310063,10 @@ def: "A dyskeratosis congenita that has material basis in an autosomal recessive subset: gard_rare {source="GARD:15739", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive dyskeratosis congenita 2" RELATED [DOID:0070017] -synonym: "DKCB2" EXACT ABBREVIATION [DOID:0070017, MONDO:Lexical, OMIM:613987] -synonym: "dyskeratosis congenita, autosomal recessive 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613987] -synonym: "dyskeratosis congenita, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:613987] +synonym: "autosomal recessive dyskeratosis congenita 2" RELATED [] +synonym: "DKCB2" EXACT ABBREVIATION [DOID:0070017, MONDO:Lexical, NCIT:C176926, OMIM:613987] +synonym: "dyskeratosis congenita, autosomal recessive 2" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C176926, OMIM:613987] +synonym: "dyskeratosis congenita, autosomal recessive type 2" EXACT [MONDORULE:1] xref: DOID:0070017 {source="MONDO:equivalentTo"} xref: GARD:15739 {source="MONDO:GARD"} xref: MEDGEN:462791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310033,10 +310088,10 @@ def: "A dyskeratosis congenita that has material basis in an autosomal recessive subset: gard_rare {source="GARD:15740", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive dyskeratosis congenita 3" RELATED [DOID:0070019] -synonym: "DKCB3" EXACT ABBREVIATION [DOID:0070019, MONDO:Lexical, OMIM:613988] -synonym: "dyskeratosis congenita, autosomal recessive 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613988] -synonym: "dyskeratosis congenita, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:613988] +synonym: "autosomal recessive dyskeratosis congenita 3" RELATED [] +synonym: "DKCB3" EXACT ABBREVIATION [DOID:0070019, MONDO:Lexical, NCIT:C176927, OMIM:613988] +synonym: "dyskeratosis congenita, autosomal recessive 3" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C176927, OMIM:613988] +synonym: "dyskeratosis congenita, autosomal recessive type 3" EXACT [MONDORULE:1] xref: DOID:0070019 {source="MONDO:equivalentTo"} xref: GARD:15740 {source="MONDO:GARD"} xref: MEDGEN:462792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310060,11 +310115,11 @@ subset: gard_rare {source="GARD:15741", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant dyskeratosis congenita 2" RELATED [DOID:0070016] -synonym: "DKCA2" EXACT ABBREVIATION [DOID:0070016, MONDO:Lexical, OMIM:613989] -synonym: "dyskeratosis congenita, autosomal dominant 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:613989] -synonym: "dyskeratosis congenita, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:613989] -synonym: "dyskeratosis congenita, autosomal recessive 4" RELATED [OMIM:613989] +synonym: "autosomal dominant dyskeratosis congenita 2" RELATED [] +synonym: "DKCA2" EXACT ABBREVIATION [DOID:0070016, MONDO:Lexical, NCIT:C176922, OMIM:613989] +synonym: "dyskeratosis congenita, autosomal dominant 2" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C176922, OMIM:613989] +synonym: "dyskeratosis congenita, autosomal dominant type 2" EXACT [MONDORULE:1] +synonym: "dyskeratosis congenita, autosomal recessive 4" RELATED [] xref: DOID:0070016 {source="MONDO:equivalentTo"} xref: GARD:15741 {source="MONDO:GARD"} xref: MEDGEN:462793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310089,10 +310144,10 @@ subset: gard_rare {source="GARD:15742", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant dyskeratosis congenita 3" RELATED [DOID:0070018] -synonym: "DKCA3" EXACT ABBREVIATION [DOID:0070018, MONDO:Lexical, OMIM:613990] -synonym: "dyskeratosis congenita, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:613990] -synonym: "dyskeratosis congenita, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:613990] +synonym: "autosomal dominant dyskeratosis congenita 3" RELATED [] +synonym: "DKCA3" EXACT ABBREVIATION [DOID:0070018, MONDO:Lexical, NCIT:C176923, OMIM:613990] +synonym: "dyskeratosis congenita, autosomal dominant 3" EXACT [MONDO:Lexical, NCIT:C176923, OMIM:613990] +synonym: "dyskeratosis congenita, autosomal dominant type 3" EXACT [MONDORULE:1] xref: DOID:0070018 {source="MONDO:equivalentTo"} xref: GARD:15742 {source="MONDO:GARD"} xref: MEDGEN:462795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310120,9 +310175,9 @@ subset: orphanet_rare {source="Orphanet:280576"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BANF1-related neurodevelopmental syndrome" EXACT CLINGEN_LABEL [] -synonym: "Nestor-Guillermo progeria syndrome" EXACT [MONDO:Lexical, OMIM:614008] +synonym: "Nestor-Guillermo progeria syndrome" EXACT [DOID:0081334, MONDO:Lexical, OMIM:614008, Orphanet:280576] synonym: "NGPS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614008, Orphanet:280576] -synonym: "progeria syndrome, childhood-onset, with osteolysis" RELATED [OMIM:614008] +synonym: "progeria syndrome, childhood-onset, with osteolysis" RELATED [] synonym: "PSCOO" RELATED ABBREVIATION [GARD:0011008] xref: DOID:0081334 {source="MONDO:equivalentTo"} xref: GARD:11008 {source="MONDO:GARD"} @@ -310159,13 +310214,13 @@ subset: gard_rare {source="GARD:15743", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD16" EXACT ABBREVIATION [DOID:0110613, MONDO:Lexical, OMIM:614017] -synonym: "ciliary dyskinesia, primary, 16" RELATED [MONDO:Lexical, OMIM:614017] -synonym: "ciliary dyskinesia, primary, 16, with or without situs inversus" RELATED [OMIM:614017] -synonym: "ciliary dyskinesia, primary, type 16" EXACT [MONDORULE:2, OMIM:614017] +synonym: "ciliary dyskinesia, primary, 16" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 16, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 16" EXACT [MONDORULE:2] synonym: "DNAL1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia 16 with or without situs inversus" EXACT [DOID:0110613] synonym: "primary ciliary dyskinesia caused by mutation in DNAL1" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 16" EXACT [DOID:0110613, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 16" EXACT [MONDORULE:2] xref: DOID:0110613 {source="MONDO:equivalentTo"} xref: GARD:15743 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110613"} @@ -310187,16 +310242,16 @@ subset: ordo_disorder {source="Orphanet:280620"} subset: orphanet_rare {source="Orphanet:280620"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epilepsy, progressive myoclonic 6" EXACT [OMIM:614018, OMIM:genemap2] -synonym: "epilepsy, progressive myoclonic, 6" RELATED [MONDO:Lexical, OMIM:614018] -synonym: "epilepsy, progressive myoclonic, type 6" EXACT [MONDORULE:1, OMIM:614018] -synonym: "EPM6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614018, Orphanet:280620] +synonym: "epilepsy, progressive myoclonic 6" EXACT [] +synonym: "epilepsy, progressive myoclonic, 6" RELATED [MONDO:Lexical] +synonym: "epilepsy, progressive myoclonic, type 6" EXACT [MONDORULE:1] +synonym: "EPM6" EXACT ABBREVIATION [DOID:0111449, MONDO:Lexical, OMIM:614018, Orphanet:280620] synonym: "GOSR2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "GOSR2-related progressive myoclonus ataxia" EXACT [Orphanet:280620] -synonym: "North Sea progressive myoclonus epilepsy" EXACT [Orphanet:280620] -synonym: "PME type 6" EXACT [Orphanet:280620] +synonym: "GOSR2-related progressive myoclonus ataxia" EXACT [DOID:0111449, Orphanet:280620] +synonym: "North Sea progressive myoclonus epilepsy" EXACT [DOID:0111449, Orphanet:280620] +synonym: "PME type 6" EXACT [DOID:0111449, Orphanet:280620] synonym: "progressive myoclonic epilepsy caused by mutation in GOSR2" EXACT [MONDO:design_pattern] -synonym: "progressive myoclonus epilepsy type 6" EXACT [Orphanet:280620] +synonym: "progressive myoclonus epilepsy type 6" EXACT [DOID:0111449, Orphanet:280620] xref: DOID:0111449 {source="MONDO:equivalentTo"} xref: GARD:3872 {source="MONDO:GARD"} xref: ICD10CM:G40.3 {source="Orphanet:280620/attributed", source="Orphanet:280620/ntbt", source="Orphanet:280620"} @@ -310218,13 +310273,13 @@ def: "Any lissencephaly in which the cause of the disease is a mutation in the N subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "LIS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614019] +synonym: "LIS4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "lissencephaly (disease) caused by mutation in NDE1" EXACT [] -synonym: "lissencephaly 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614019] -synonym: "lissencephaly 4 (with microcephaly)" EXACT [OMIM:614019, OMIM:genemap2] -synonym: "lissencephaly 4 with microcephaly" RELATED [OMIM:614019] -synonym: "lissencephaly 4, with microcephaly" RELATED [OMIM:614019] -synonym: "lissencephaly type 4" EXACT [MONDORULE:1, OMIM:614019] +synonym: "lissencephaly 4" EXACT CLINGEN_LABEL [DOID:0112235, MONDO:Lexical] +synonym: "lissencephaly 4 (with microcephaly)" EXACT [] +synonym: "lissencephaly 4 with microcephaly" RELATED [] +synonym: "lissencephaly 4, with microcephaly" RELATED [] +synonym: "lissencephaly type 4" EXACT [MONDORULE:1] synonym: "NDE1 lissencephaly (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0112235 {source="MONDO:equivalentTo"} xref: MEDGEN:462811 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310247,11 +310302,11 @@ subset: gard_rare {source="GARD:22549", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TECR" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal recessive 14" EXACT [MONDO:Lexical, OMIM:614020] -synonym: "intellectual disability, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:614020] -synonym: "mental retardation, autosomal recessive 14" RELATED DEPRECATED [MONDO:Lexical, OMIM:614020] -synonym: "mental retardation, autosomal recessive type 14" EXACT DEPRECATED [MONDORULE:2, OMIM:614020] -synonym: "MRT14" RELATED DEPRECATED [MONDO:Lexical, OMIM:614020] +synonym: "intellectual disability, autosomal recessive 14" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 14" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 14" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 14" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT14" RELATED DEPRECATED [MONDO:Lexical] synonym: "TECR autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081188 {source="MONDO:equivalentTo"} xref: GARD:22549 {source="MONDO:GARD"} @@ -310270,13 +310325,13 @@ def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cau subset: gard_rare {source="GARD:15744", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "catecholaminergic polymorphic ventricular tachycardia 3" EXACT CLINGEN_LABEL [] +synonym: "catecholaminergic polymorphic ventricular tachycardia 3" EXACT CLINGEN_LABEL [DOID:0060677] synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL" EXACT [MONDO:design_pattern] -synonym: "catecholaminergic polymorphic ventricular tachycardia type 3" EXACT [DOID:0060677, MONDORULE:1] -synonym: "CPVT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614021] +synonym: "catecholaminergic polymorphic ventricular tachycardia type 3" EXACT [MONDORULE:1] +synonym: "CPVT3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CVPT3" EXACT ABBREVIATION [DOID:0060677] synonym: "TECRL catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ventricular tachycardia, catecholaminergic polymorphic, 3" RELATED [MONDO:Lexical, OMIM:614021] +synonym: "ventricular tachycardia, catecholaminergic polymorphic, 3" RELATED [MONDO:Lexical] xref: DOID:0060677 {source="MONDO:equivalentTo"} xref: GARD:15744 {source="MONDO:GARD"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060677"} @@ -310296,9 +310351,9 @@ def: "Any familial atrial fibrillation in which the cause of the disease is a mu subset: gard_rare {source="GARD:15745", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ATFB10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614022] +synonym: "ATFB10" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrial fibrillation, familial, 10" EXACT [MONDO:Lexical, OMIM:614022] -synonym: "atrial fibrillation, familial, type 10" EXACT [MONDORULE:2, OMIM:614022] +synonym: "atrial fibrillation, familial, type 10" EXACT [MONDORULE:2] synonym: "familial atrial fibrillation caused by mutation in SCN5A" EXACT [MONDO:design_pattern] synonym: "SCN5A familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15745 {source="MONDO:GARD"} @@ -310320,9 +310375,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79350"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3-phosphoserine phosphatase deficiency" RELATED [Orphanet:79350] +synonym: "3-phosphoserine phosphatase deficiency" RELATED [] synonym: "phosphoserine phosphatase deficiency" EXACT [DOID:0050724, MONDO:Lexical, OMIM:614023] -synonym: "PSPH deficiency" EXACT CLINGEN_LABEL [] +synonym: "PSPH deficiency" EXACT CLINGEN_LABEL [DOID:0050724] synonym: "PSPHD" EXACT ABBREVIATION [DOID:0050724, MONDO:Lexical, OMIM:614023] xref: DOID:0050724 {source="MONDO:equivalentTo"} xref: GARD:16717 {source="MONDO:GARD"} @@ -310342,7 +310397,7 @@ id: MONDO:0013532 name: protein Z deficiency subset: otar {source="MONDO:OTAR"} synonym: "protein Z deficiency" EXACT [OMIM:614024] -synonym: "protein z deficiency" EXACT [OMIM:614024, OMIM:genemap2] +synonym: "protein z deficiency" EXACT [OMIM:614024] xref: MEDGEN:462815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614024 {source="MONDO:equivalentTo"} xref: UMLS:C3151465 {source="MEDGEN:462815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310360,13 +310415,13 @@ subset: ordo_disorder {source="Orphanet:140905"} subset: orphanet_rare {source="Orphanet:140905"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hepatic lipase deficiency" RELATED [OMIM:614025] -synonym: "HL deficiency" RELATED [OMIM:614025] +synonym: "hepatic lipase deficiency" RELATED [] +synonym: "HL deficiency" RELATED [] synonym: "hyperlipidemia due to hepatic lipase deficiency" EXACT [Orphanet:140905] -synonym: "hyperlipidemia due to hepatic triacylglycerol lipase deficiency" RELATED [Orphanet:140905] +synonym: "hyperlipidemia due to hepatic triacylglycerol lipase deficiency" RELATED [] synonym: "hyperlipidemia due to HL deficiency" EXACT [Orphanet:140905] synonym: "hyperlipidemia due to HTGL deficiency" EXACT [Orphanet:140905] -synonym: "lipc deficiency" RELATED [OMIM:614025] +synonym: "lipc deficiency" RELATED [] xref: GARD:12864 {source="MONDO:GARD"} xref: ICD10CM:E78.4 {source="Orphanet:140905", source="Orphanet:140905/attributed", source="Orphanet:140905/ntbt"} xref: MEDGEN:462816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310382,8 +310437,8 @@ id: MONDO:0013534 name: apolipoprotein c-III deficiency subset: gard_rare {source="GARD:18076", source="MONDO:GARD"} subset: rare -synonym: "apolipoprotein c-III deficiency" EXACT [OMIM:614028] -synonym: "hyperalphalipoproteinemia 2" RELATED [OMIM:614028] +synonym: "apolipoprotein c-III deficiency" EXACT [DOID:0111370, OMIM:614028] +synonym: "hyperalphalipoproteinemia 2" RELATED [] xref: DOID:0111370 {source="MONDO:equivalentTo"} xref: GARD:18076 {source="MONDO:GARD"} xref: MEDGEN:462817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310397,8 +310452,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013535 name: hydroxyacyl glutathione hydrolase deficiency -synonym: "glyoxalase 2 deficiency" RELATED [OMIM:614033] -synonym: "glyoxalase II deficiency" EXACT [OMIM:614033, OMIM:genemap2] +synonym: "glyoxalase 2 deficiency" RELATED [] +synonym: "glyoxalase II deficiency" EXACT [] synonym: "hydroxyacyl glutathione hydrolase deficiency" EXACT [OMIM:614033] xref: MEDGEN:481287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564215 {source="MONDO:equivalentTo"} @@ -310418,8 +310473,8 @@ subset: orphanet_rare {source="Orphanet:562509"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "heme oxygenase 1 deficiency" EXACT [MONDO:Lexical, OMIM:614034] -synonym: "heme oxygenase-1 deficiency" EXACT [OMIM:614034, OMIM:genemap2] -synonym: "HMOX1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614034] +synonym: "heme oxygenase-1 deficiency" EXACT [Orphanet:562509] +synonym: "HMOX1D" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17995 {source="MONDO:GARD"} xref: MEDGEN:333882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564200 {source="MONDO:equivalentTo"} @@ -310438,15 +310493,15 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22641", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 29" NARROW [DOID:0110487] -synonym: "autosomal recessive nonsyndromic deafness 29" NARROW [OMIM:614035] +synonym: "autosomal recessive deafness 29" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 29" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLDN14" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 29" NARROW [DOID:0110487, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 29" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 29" EXACT CLINGEN_LABEL [] synonym: "CLDN14 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 29" NARROW [MONDO:Lexical, OMIM:614035, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 29" NARROW [MONDORULE:2, OMIM:614035] -synonym: "DFNB29" NARROW ABBREVIATION [DOID:0110487, MONDO:Lexical, OMIM:614035] +synonym: "deafness, autosomal recessive 29" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 29" NARROW [MONDORULE:2] +synonym: "DFNB29" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110487 {source="MONDO:equivalentTo"} xref: GARD:22641 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110487"} @@ -310465,9 +310520,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013538 name: obsolete alpha-2-macroglobulin deficiency comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "A2MD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614036] -synonym: "ALPHA-2-macroglobulin deficiency" RELATED [OMIM:614036] -synonym: "alpha-2-macroglobulin deficiency" EXACT [MONDO:Lexical, OMIM:614036] +synonym: "A2MD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ALPHA-2-macroglobulin deficiency" RELATED [] +synonym: "alpha-2-macroglobulin deficiency" EXACT [MONDO:Lexical] xref: MESH:C566304 {source="MONDO:obsoleteEquivalent"} xref: OMIM:614036 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -310505,8 +310560,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:3226"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "deafness-lymphedema-leukemia syndrome" EXACT CLINGEN_LABEL [] -synonym: "Emberger syndrome" EXACT [OMIM:614038, Orphanet:3226] -synonym: "lymphedema, primary, with myelodysplasia" RELATED [OMIM:614038] +synonym: "Emberger syndrome" EXACT [OMIM:614038] +synonym: "lymphedema, primary, with myelodysplasia" RELATED [] xref: GARD:13030 {source="MONDO:GARD"} xref: ICD9:757.0 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:481294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310535,10 +310590,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CDCBM1" EXACT ABBREVIATION [DOID:0090137, MONDO:Lexical, OMIM:614039] synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3" EXACT [MONDO:design_pattern] -synonym: "complex cortical dysplasia with other brain malformations type 1" EXACT [DOID:0090137, MONDORULE:1] -synonym: "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" EXACT [DOID:0090137] -synonym: "cortical dysplasia, complex, with other brain malformations 1" RELATED [MONDO:Lexical, OMIM:614039] -synonym: "cortical dysplasia, Complex, with Other brain malformations type 1" EXACT [MONDORULE:1, OMIM:614039] +synonym: "complex cortical dysplasia with other brain malformations type 1" EXACT [MONDORULE:1] +synonym: "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" EXACT [DOID:0090137, Orphanet:300570] +synonym: "cortical dysplasia, complex, with other brain malformations 1" RELATED [MONDO:Lexical] +synonym: "cortical dysplasia, Complex, with Other brain malformations type 1" EXACT [MONDORULE:1] synonym: "TUBB3 complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090137 {source="MONDO:equivalentTo"} xref: GARD:13032 {source="MONDO:GARD"} @@ -310562,8 +310617,8 @@ subset: rare synonym: "ACTA2 Moyamoya disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Moyamoya disease 5" EXACT [MONDO:Lexical, OMIM:614042] synonym: "Moyamoya disease caused by mutation in ACTA2" EXACT [MONDO:design_pattern] -synonym: "Moyamoya disease type 5" EXACT [MONDORULE:1, OMIM:614042] -synonym: "MYMY5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614042] +synonym: "Moyamoya disease type 5" EXACT [MONDORULE:1] +synonym: "MYMY5" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15746 {source="MONDO:GARD"} xref: MEDGEN:481320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614042 {source="MONDO:equivalentTo"} @@ -310593,9 +310648,9 @@ name: atrial fibrillation, familial, 11 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15747", source="MONDO:GARD"} subset: rare -synonym: "ATFB11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614049] +synonym: "ATFB11" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrial fibrillation, familial, 11" EXACT [MONDO:Lexical, OMIM:614049] -synonym: "atrial fibrillation, familial, type 11" EXACT [MONDORULE:2, OMIM:614049] +synonym: "atrial fibrillation, familial, type 11" EXACT [MONDORULE:2] synonym: "familial atrial fibrillation caused by mutation in GJA5" EXACT [MONDO:design_pattern] synonym: "GJA5 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15747 {source="MONDO:GARD"} @@ -310615,9 +310670,9 @@ def: "Any familial atrial fibrillation in which the cause of the disease is a mu subset: gard_rare {source="GARD:15748", source="MONDO:GARD"} subset: rare synonym: "ABCC9 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ATFB12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614050] +synonym: "ATFB12" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrial fibrillation, familial, 12" EXACT [MONDO:Lexical, OMIM:614050] -synonym: "atrial fibrillation, familial, type 12" EXACT [MONDORULE:2, OMIM:614050] +synonym: "atrial fibrillation, familial, type 12" EXACT [MONDORULE:2] synonym: "familial atrial fibrillation caused by mutation in ABCC9" EXACT [MONDO:design_pattern] xref: GARD:15748 {source="MONDO:GARD"} xref: MEDGEN:481325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310640,17 +310695,17 @@ subset: orphanet_rare {source="Orphanet:1194"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "3-MGCA type IV (3-MGCA-4) (formerly)" RELATED [GARD:0012965] -synonym: "encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency" RELATED [OMIM:614052] +synonym: "encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency" RELATED [] synonym: "MC5DN2" EXACT ABBREVIATION [DOID:0060331, MONDO:Lexical, OMIM:614052] -synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2" RELATED [OMIM:614052] -synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type" RELATED [OMIM:614052] -synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2" RELATED [MONDO:Lexical, OMIM:614052] +synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2" RELATED [] +synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type" RELATED [] +synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2" RELATED [MONDO:Lexical] synonym: "mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency" EXACT [Orphanet:1194] synonym: "mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency" EXACT [Orphanet:1194] synonym: "mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency" EXACT [Orphanet:1194] synonym: "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency" EXACT [DOID:0060331] synonym: "TMEM70 defect" RELATED [GARD:0012965] -synonym: "TMEM70-related mitochondrial encephalo-cardio-myopathy" RELATED [Orphanet:1194] +synonym: "TMEM70-related mitochondrial encephalo-cardio-myopathy" RELATED [] xref: DOID:0060331 {source="MONDO:equivalentTo"} xref: GARD:16561 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="DOID:0060331", source="Orphanet:1194/attributed", source="Orphanet:1194/ntbt", source="Orphanet:1194"} @@ -310672,9 +310727,9 @@ subset: gard_rare {source="GARD:18666", source="MONDO:GARD"} subset: rare synonym: "ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MC5DN3" EXACT ABBREVIATION [DOID:0060332, MONDO:Lexical, OMIM:614053] -synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type" RELATED [OMIM:614053] -synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3" RELATED [OMIM:614053] -synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3" RELATED [MONDO:Lexical, OMIM:614053] +synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type" RELATED [] +synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3" RELATED [] +synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3" RELATED [MONDO:Lexical] synonym: "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E" EXACT [MONDO:design_pattern] xref: DOID:0060332 {source="MONDO:equivalentTo"} xref: GARD:18666 {source="MONDO:GARD"} @@ -310695,13 +310750,13 @@ name: acetyl-CoA acetyltransferase-2 deficiency subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} synonym: "ACAT2" RELATED ABBREVIATION [GARD:0009154] -synonym: "Acat2 deficiency" RELATED [OMIM:614055] -synonym: "ACAT2 deficiency, Isolated cases" EXACT [OMIM:614055, OMIM:genemap2] -synonym: "ACAT2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614055] +synonym: "Acat2 deficiency" RELATED [] +synonym: "ACAT2 deficiency, Isolated cases" EXACT [] +synonym: "ACAT2D" RELATED ABBREVIATION [MONDO:Lexical] synonym: "acetoacetyl CoA thiolase, cytosolic" RELATED [GARD:0009154] synonym: "Acetocoenzyme A acetyltransferase 2" RELATED [GARD:0009154] synonym: "Acetyl CoA acetyltransferase 2 deficiency" RELATED [GARD:0009154] -synonym: "ACETYL-CoA acetyltransferase-2 deficiency" RELATED [OMIM:614055] +synonym: "ACETYL-CoA acetyltransferase-2 deficiency" RELATED [] synonym: "acetyl-CoA acetyltransferase-2 deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614055] xref: MEDGEN:90995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536005 {source="MONDO:equivalentTo"} @@ -310718,10 +310773,10 @@ id: MONDO:0013549 name: N-acetylaspartate deficiency subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "hypoacetylaspartia" RELATED [OMIM:614063] +synonym: "hypoacetylaspartia" RELATED [] synonym: "N-acetylaspartate deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614063] -synonym: "naa deficiency" RELATED [OMIM:614063] -synonym: "NACED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614063] +synonym: "naa deficiency" RELATED [] +synonym: "NACED" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:481346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614063 {source="MONDO:equivalentTo"} xref: UMLS:C3279716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481346"} @@ -310739,11 +310794,11 @@ subset: ordo_disorder {source="Orphanet:63273"} subset: orphanet_rare {source="Orphanet:63273"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "distal ABD-filaminopathy" EXACT [Orphanet:63273] -synonym: "MPD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614065] -synonym: "myopathy, distal, 4" RELATED [MONDO:Lexical, OMIM:614065] -synonym: "myopathy, distal, type 4" EXACT [MONDORULE:1, OMIM:614065] -synonym: "Williams distal myopathy" RELATED [OMIM:614065] +synonym: "distal ABD-filaminopathy" EXACT [DOID:0111190, Orphanet:63273] +synonym: "MPD4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myopathy, distal, 4" RELATED [MONDO:Lexical] +synonym: "myopathy, distal, type 4" EXACT [MONDORULE:1] +synonym: "Williams distal myopathy" RELATED [] xref: DOID:0111190 {source="MONDO:equivalentTo"} xref: GARD:16666 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:63273/attributed", source="Orphanet:63273/ntbt", source="Orphanet:63273"} @@ -310766,16 +310821,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AP4B1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 47" EXACT [DOID:0110799] -synonym: "cerebral palsy, spastic quadriplegic, 5" RELATED [OMIM:614066] -synonym: "cerebral palsy, spastic quadriplegic, 5, formerly" RELATED [OMIM:614066] +synonym: "cerebral palsy, spastic quadriplegic, 5" RELATED [] +synonym: "cerebral palsy, spastic quadriplegic, 5, formerly" RELATED [] synonym: "CPSQ5" EXACT ABBREVIATION [DOID:0110799] -synonym: "hereditary spastic paraplegia 47" EXACT CLINGEN_LABEL [] +synonym: "hereditary spastic paraplegia 47" EXACT CLINGEN_LABEL [DOID:0110799] synonym: "hereditary spastic paraplegia caused by mutation in AP4B1" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 47" EXACT [DOID:0110799, MONDORULE:2] -synonym: "Spastic Paraplegia 47" EXACT [NORD:1993] -synonym: "spastic paraplegia 47, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614066] +synonym: "hereditary spastic paraplegia type 47" EXACT [MONDORULE:2] +synonym: "Spastic Paraplegia 47" EXACT [NCIT:C164224, NORD:1993] +synonym: "spastic paraplegia 47, autosomal recessive" RELATED [MONDO:Lexical] synonym: "spastic quadriplegic cerebral palsy 5" EXACT [DOID:0110799] -synonym: "SPG47" EXACT ABBREVIATION [DOID:0110799, MONDO:Lexical, OMIM:614066] +synonym: "SPG47" EXACT ABBREVIATION [DOID:0110799, MONDO:Lexical, NCIT:C164224, OMIM:614066] xref: DOID:0110799 {source="MONDO:equivalentTo"} xref: GARD:15749 {source="MONDO:GARD"} xref: MEDGEN:481368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310799,14 +310854,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AP4S1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive spastic paraplegia 52" EXACT [DOID:0110804] -synonym: "cerebral palsy, spastic quadriplegic, 6" RELATED [OMIM:614067] -synonym: "cerebral palsy, spastic quadriplegic, 6, formerly" RELATED [OMIM:614067] +synonym: "cerebral palsy, spastic quadriplegic, 6" RELATED [] +synonym: "cerebral palsy, spastic quadriplegic, 6, formerly" RELATED [] synonym: "CPSQ6" EXACT ABBREVIATION [DOID:0110804] -synonym: "hereditary spastic paraplegia 52" EXACT CLINGEN_LABEL [] +synonym: "hereditary spastic paraplegia 52" EXACT CLINGEN_LABEL [DOID:0110804] synonym: "hereditary spastic paraplegia caused by mutation in AP4S1" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 52" EXACT [DOID:0110804, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 52" EXACT [MONDORULE:2] synonym: "Spastic Paraplegia 52" EXACT [NORD:1991] -synonym: "spastic paraplegia 52, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614067] +synonym: "spastic paraplegia 52, autosomal recessive" RELATED [MONDO:Lexical] synonym: "spastic quadriplegic cerebral palsy 6" EXACT [DOID:0110804] synonym: "SPG52" EXACT ABBREVIATION [DOID:0110804, MONDO:Lexical, OMIM:614067] xref: DOID:0110804 {source="MONDO:equivalentTo"} @@ -310829,11 +310884,11 @@ subset: gard_rare {source="GARD:15751", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ICF syndrome 2" EXACT [DOID:0090009] -synonym: "ICF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614069] -synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614069] +synonym: "ICF2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 2" EXACT CLINGEN_LABEL [DOID:0090009, MONDO:Lexical, OMIM:614069] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24" EXACT [MONDO:design_pattern] -synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 2" EXACT [MONDORULE:1, OMIM:614069] -synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 2" EXACT [DOID:0090009, MONDORULE:1] +synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 2" EXACT [MONDORULE:1] +synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 2" EXACT [MONDORULE:1] synonym: "ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090009 {source="MONDO:equivalentTo"} xref: GARD:15751 {source="MONDO:GARD"} @@ -310855,9 +310910,9 @@ def: "Any psoriasis in which the cause of the disease is a mutation in the TRAF3 subset: predisposition synonym: "psoriasis 13, susceptibility to" EXACT [MONDO:Lexical, OMIM:614070] synonym: "psoriasis caused by mutation in TRAF3IP2" EXACT [MONDO:design_pattern] -synonym: "psoriasis susceptibility 13" EXACT [OMIM:614070, OMIM:genemap2] -synonym: "PSORS13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614070] -synonym: "susceptibility to psoriasis 13" RELATED [OMIM:614070] +synonym: "psoriasis susceptibility 13" EXACT [] +synonym: "PSORS13" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to psoriasis 13" RELATED [] synonym: "TRAF3IP2 psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111287 {source="MONDO:equivalentTo"} xref: MEDGEN:481384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -310879,10 +310934,10 @@ subset: gard_rare {source="GARD:18333", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Hermansky-Pudlak syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614072] +synonym: "Hermansky-Pudlak syndrome 3" EXACT CLINGEN_LABEL [DOID:0060541, MONDO:Lexical, OMIM:614072] synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS3" EXACT [MONDO:design_pattern] -synonym: "Hermansky-Pudlak syndrome type 3" EXACT [DOID:0060541, MONDORULE:1, OMIM:614072] -synonym: "HPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614072] +synonym: "Hermansky-Pudlak syndrome type 3" EXACT [MONDORULE:1] +synonym: "HPS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HPS3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060541 {source="MONDO:equivalentTo"} xref: GARD:18333 {source="MONDO:GARD"} @@ -310906,10 +310961,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18332", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Hermansky-Pudlak syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614073] +synonym: "Hermansky-Pudlak syndrome 4" EXACT CLINGEN_LABEL [DOID:0060542, MONDO:Lexical, OMIM:614073] synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS4" EXACT [MONDO:design_pattern] -synonym: "Hermansky-Pudlak syndrome type 4" EXACT [DOID:0060542, MONDORULE:1, OMIM:614073] -synonym: "HPS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614073] +synonym: "Hermansky-Pudlak syndrome type 4" EXACT [MONDORULE:1] +synonym: "HPS4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HPS4 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060542 {source="MONDO:equivalentTo"} xref: GARD:18332 {source="MONDO:GARD"} @@ -310933,10 +310988,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18334", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Hermansky-Pudlak syndrome 5" EXACT [MONDO:Lexical, OMIM:614074] +synonym: "Hermansky-Pudlak syndrome 5" EXACT [DOID:0060543, MONDO:Lexical, OMIM:614074] synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS5" EXACT [MONDO:design_pattern] -synonym: "Hermansky-Pudlak syndrome type 5" EXACT [DOID:0060543, MONDORULE:1, OMIM:614074] -synonym: "HPS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614074] +synonym: "Hermansky-Pudlak syndrome type 5" EXACT [MONDORULE:1] +synonym: "HPS5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HPS5 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060543 {source="MONDO:equivalentTo"} xref: GARD:18334 {source="MONDO:GARD"} @@ -310960,10 +311015,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18335", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Hermansky-Pudlak syndrome 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614075] +synonym: "Hermansky-Pudlak syndrome 6" EXACT CLINGEN_LABEL [DOID:0060544, MONDO:Lexical, NCIT:C150369, OMIM:614075] synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS6" EXACT [MONDO:design_pattern] -synonym: "Hermansky-Pudlak syndrome type 6" EXACT [DOID:0060544, MONDORULE:1, OMIM:614075] -synonym: "HPS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614075] +synonym: "Hermansky-Pudlak syndrome type 6" EXACT [MONDORULE:1] +synonym: "HPS6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HPS6 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060544 {source="MONDO:equivalentTo"} xref: GARD:18335 {source="MONDO:GARD"} @@ -310991,10 +311046,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:231531"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DTNBP1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Hermansky-Pudlak syndrome 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614076] +synonym: "Hermansky-Pudlak syndrome 7" EXACT CLINGEN_LABEL [DOID:0060545, MONDO:Lexical, OMIM:614076] synonym: "Hermansky-Pudlak syndrome caused by mutation in DTNBP1" EXACT [MONDO:design_pattern] -synonym: "Hermansky-Pudlak syndrome type 7" EXACT [DOID:0060545, MONDORULE:1, OMIM:614076] -synonym: "HPS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614076, Orphanet:231531] +synonym: "Hermansky-Pudlak syndrome type 7" EXACT [MONDORULE:1] +synonym: "HPS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614076] xref: DOID:0060545 {source="MONDO:equivalentTo"} xref: GARD:18336 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="Orphanet:231531/attributed", source="Orphanet:231531/ntbt", source="MONDO:relatedTo", source="Orphanet:231531"} @@ -311019,10 +311074,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BLOC1S3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Hermansky-Pudlak syndrome 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614077] +synonym: "Hermansky-Pudlak syndrome 8" EXACT CLINGEN_LABEL [DOID:0060546, MONDO:Lexical, OMIM:614077] synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3" EXACT [MONDO:design_pattern] -synonym: "Hermansky-Pudlak syndrome type 8" EXACT [DOID:0060546, MONDORULE:1, OMIM:614077] -synonym: "HPS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614077, Orphanet:231537] +synonym: "Hermansky-Pudlak syndrome type 8" EXACT [MONDORULE:1] +synonym: "HPS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614077] xref: DOID:0060546 {source="MONDO:equivalentTo"} xref: GARD:18337 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:231537", source="Orphanet:231537/attributed", source="Orphanet:231537/ntbt"} @@ -311047,8 +311102,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:280586"} subset: orphanet_rare {source="Orphanet:280586"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chondrodysplasia with joint dislocations, gPAPP type" EXACT CLINGEN_LABEL [OMIM:614078] -synonym: "gPAPP deficiency" EXACT [OMIM:614078, Orphanet:280586] +synonym: "chondrodysplasia with joint dislocations, gPAPP type" EXACT CLINGEN_LABEL [OMIM:614078, Orphanet:280586] +synonym: "gPAPP deficiency" EXACT [DOID:0112224, OMIM:614078, Orphanet:280586] xref: DOID:0112224 {source="MONDO:equivalentTo"} xref: GARD:11009 {source="MONDO:GARD"} xref: MEDGEN:481387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311069,7 +311124,7 @@ id: MONDO:0013562 name: aspergillosis, susceptibility to subset: predisposition synonym: "aspergillosis, susceptibility to" EXACT [OMIM:614079] -synonym: "susceptibility to aspergillosis" RELATED [OMIM:614079] +synonym: "susceptibility to aspergillosis" RELATED [] xref: MEDGEN:481404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614079 {source="MONDO:equivalentTo"} xref: Orphanet:1163 {source="OMIM:614079"} @@ -311091,16 +311146,16 @@ subset: orphanet_rare {source="Orphanet:280633"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital disorder of glycosylation due to PIGN deficiency" EXACT [Orphanet:280633] -synonym: "glycosylphosphatidylinositol biosynthesis defect 3" RELATED [OMIM:614080] +synonym: "glycosylphosphatidylinositol biosynthesis defect 3" RELATED [] synonym: "inherited GPI anchor-deficiency" EXACT [PMID:31127708] -synonym: "MCAHS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614080] +synonym: "MCAHS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "multiple congenital anomalies - hypotonia - seizures syndrome" RELATED [GARD:0012781] -synonym: "multiple congenital anomalies-hypotonia-seizures syndrome" RELATED [Orphanet:280633] -synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614080] -synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 1" EXACT [DOID:0080138, MONDORULE:1, OMIM:614080] +synonym: "multiple congenital anomalies-hypotonia-seizures syndrome" RELATED [] +synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 1" EXACT CLINGEN_LABEL [DOID:0080138, MONDO:Lexical, NCIT:C176896, OMIM:614080] +synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 1" EXACT [MONDORULE:1] synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN" EXACT [MONDO:design_pattern] synonym: "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PIGN-CDG" EXACT [Orphanet:280633] +synonym: "PIGN-CDG" EXACT ABBREVIATION [Orphanet:280633] synonym: "PIGN-related inherited GPI deficiency" NARROW [https://clinicalgenome.org/affiliation/40006/] xref: DOID:0080138 {source="MONDO:equivalentTo"} xref: GARD:12781 {source="MONDO:GARD"} @@ -311127,11 +311182,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013564 name: anhaptoglobinemia subset: otar {source="MONDO:OTAR"} -synonym: "Ahaptoglobinemia" RELATED [OMIM:614081] -synonym: "AHP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614081] -synonym: "ANHAPTOGLOBINEMIA" RELATED ABBREVIATION [OMIM:614081] -synonym: "anhaptoglobinemia" EXACT [MONDO:Lexical, OMIM:614081, OMIM:genemap2] -synonym: "hypohaptoglobinemia" EXACT [OMIM:614081, OMIM:genemap2] +synonym: "Ahaptoglobinemia" RELATED [] +synonym: "AHP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ANHAPTOGLOBINEMIA" RELATED ABBREVIATION [] +synonym: "anhaptoglobinemia" EXACT [MONDO:Lexical, OMIM:614081] +synonym: "hypohaptoglobinemia" EXACT [] xref: MEDGEN:481416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614081 {source="MONDO:equivalentTo"} xref: UMLS:C3279786 {source="MEDGEN:481416", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311149,10 +311204,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FANCG" EXACT ABBREVIATION [DOID:0111086, MONDO:Lexical, OMIM:614082] synonym: "Fanconi anaemia complementation group type G" EXACT OMO:0003005 [] -synonym: "Fanconi anemia complementation group G" EXACT CLINGEN_LABEL [] -synonym: "Fanconi anemia complementation group type G" EXACT [DOID:0111086, MONDORULE:1] -synonym: "Fanconi anemia, complementation group G" RELATED [MONDO:Lexical, OMIM:614082] -synonym: "Fanconi Anemia, complementation group type G" EXACT [MONDORULE:1, OMIM:614082] +synonym: "Fanconi anemia complementation group G" EXACT CLINGEN_LABEL [DOID:0111086] +synonym: "Fanconi anemia complementation group type G" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group G" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type G" EXACT [MONDORULE:1] xref: DOID:0111086 {source="MONDO:equivalentTo"} xref: GARD:15753 {source="MONDO:GARD"} xref: MEDGEN:854017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311178,11 +311233,11 @@ synonym: "FANCL Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/dise synonym: "Fanconi anaemia caused by mutation in FANCL" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type L" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in FANCL" EXACT [MONDO:design_pattern] -synonym: "Fanconi anemia complementation group L" EXACT CLINGEN_LABEL [] -synonym: "Fanconi anemia complementation group type L" EXACT [DOID:0111082, MONDORULE:1] -synonym: "Fanconi Anemia, complementation Group 50" RELATED [OMIM:614083] -synonym: "Fanconi anemia, complementation group L" RELATED [MONDO:Lexical, OMIM:614083] -synonym: "Fanconi Anemia, complementation group type 50" EXACT [MONDORULE:2, OMIM:614083] +synonym: "Fanconi anemia complementation group L" EXACT CLINGEN_LABEL [DOID:0111082] +synonym: "Fanconi anemia complementation group type L" EXACT [MONDORULE:1] +synonym: "Fanconi Anemia, complementation Group 50" RELATED [] +synonym: "Fanconi anemia, complementation group L" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type 50" EXACT [MONDORULE:2] xref: DOID:0111082 {source="MONDO:equivalentTo"} xref: GARD:15754 {source="MONDO:GARD"} xref: MEDGEN:854018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311203,9 +311258,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ASD3" EXACT ABBREVIATION [DOID:0110108, MONDO:Lexical, OMIM:614089] synonym: "atrial heart septal defect caused by mutation in MYH6" EXACT [MONDO:design_pattern] -synonym: "atrial heart septal defect type 3" EXACT [DOID:0110108, MONDORULE:1] +synonym: "atrial heart septal defect type 3" EXACT [MONDORULE:1] synonym: "atrial septal defect 3" EXACT [DOID:0110108, MONDO:Lexical, OMIM:614089] -synonym: "atrial septal defect type 3" EXACT [MONDORULE:1, OMIM:614089] +synonym: "atrial septal defect type 3" EXACT [MONDORULE:1] synonym: "MYH6 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110108 {source="MONDO:equivalentTo"} xref: GARD:15755 {source="MONDO:GARD"} @@ -311227,10 +311282,10 @@ def: "Any familial sick sinus syndrome in which the cause of the disease is a mu subset: predisposition synonym: "familial sick sinus syndrome caused by mutation in MYH6" EXACT [MONDO:design_pattern] synonym: "MYH6 familial sick sinus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "sick sinus syndrome 3" EXACT [OMIM:614090, OMIM:genemap2] +synonym: "sick sinus syndrome 3" EXACT [] synonym: "sick sinus syndrome 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:614090] -synonym: "SSS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614090] -synonym: "susceptibility to sick sinus syndrome 3" RELATED [OMIM:614090] +synonym: "SSS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to sick sinus syndrome 3" RELATED [] xref: MEDGEN:481421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614090 {source="MONDO:equivalentTo"} xref: Orphanet:166282 {source="OMIM:614090"} @@ -311255,7 +311310,7 @@ subset: rare synonym: "short rib-polydactyly syndrome type 5" EXACT [Orphanet:498497] synonym: "short rib-polydactyly syndrome type V" EXACT [DOID:0110090] synonym: "short rib-polydactyly syndrome, type 5" EXACT [OMIM:614091] -synonym: "short-rib thoracic dysplasia 7 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:614091] +synonym: "short-rib thoracic dysplasia 7 with or without polydactyly" EXACT [DOID:0110090, MONDO:Lexical, OMIM:614091] synonym: "SRPS5" EXACT ABBREVIATION [DOID:0110090] synonym: "SRTD7" EXACT ABBREVIATION [DOID:0110090, MONDO:Lexical, OMIM:614091] xref: DOID:0110090 {source="MONDO:equivalentTo"} @@ -311285,11 +311340,11 @@ subset: orphanet_rare {source="Orphanet:319504"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cardiomyopathy, hypertrophic mitochondrial, fatal infantile" RELATED [OMIM:614096] -synonym: "combined oxidative phosphorylation deficiency 8" RELATED [MONDO:Lexical, OMIM:614096] +synonym: "cardiomyopathy, hypertrophic mitochondrial, fatal infantile" RELATED [] +synonym: "combined oxidative phosphorylation deficiency 8" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in AARS2" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 8" EXACT [MONDORULE:1, OMIM:614096] -synonym: "COXPD8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614096, Orphanet:319504] +synonym: "combined oxidative phosphorylation deficiency type 8" EXACT [MONDORULE:1] +synonym: "COXPD8" EXACT ABBREVIATION [DOID:0111479, MONDO:Lexical, OMIM:614096, Orphanet:319504] xref: DOID:0111479 {source="MONDO:equivalentTo"} xref: GARD:17452 {source="MONDO:GARD"} xref: MEDGEN:1377817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311313,8 +311368,8 @@ subset: ordo_disorder {source="Orphanet:926"} subset: orphanet_rare {source="Orphanet:926"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acatalasemia" EXACT [OMIM:614097] -synonym: "acatalasia" EXACT CLINGEN_LABEL [OMIM:614097] +synonym: "acatalasemia" EXACT [DOID:2582, NCIT:C84526, OMIM:614097, Orphanet:926] +synonym: "acatalasia" EXACT CLINGEN_LABEL [DOID:2582, NCIT:C84526, OMIM:614097] synonym: "catalase deficiency" EXACT [OMIM:614097, Orphanet:926] synonym: "deficiency of catalase" EXACT [DOID:2582] xref: DOID:2582 {source="EFO:0004144", source="MONDO:equivalentTo"} @@ -311352,9 +311407,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome" EXACT OMO:0003005 [] synonym: "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" EXACT [Orphanet:435628] -synonym: "KEPPEN-Lubinsky syndrome" RELATED [OMIM:614098] -synonym: "Keppen-Lubinsky syndrome" EXACT [MONDO:Lexical, OMIM:614098] -synonym: "KPLBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614098] +synonym: "KEPPEN-Lubinsky syndrome" RELATED [] +synonym: "Keppen-Lubinsky syndrome" EXACT [MONDO:Lexical, OMIM:614098, Orphanet:435628] +synonym: "KPLBS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17716 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="Orphanet:435628", source="Orphanet:435628/attributed", source="Orphanet:435628/ntbt"} xref: MEDGEN:481430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311371,11 +311426,11 @@ def: "Any cranioectodermal dysplasia in which the cause of the disease is a muta subset: gard_rare {source="GARD:15757", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CED3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614099] -synonym: "CRANIOECTODERMAL dysplasia 3" RELATED [OMIM:614099] -synonym: "cranioectodermal dysplasia 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614099] +synonym: "CED3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "CRANIOECTODERMAL dysplasia 3" RELATED [] +synonym: "cranioectodermal dysplasia 3" EXACT CLINGEN_LABEL [DOID:0080805, MONDO:Lexical, OMIM:614099] synonym: "cranioectodermal dysplasia caused by mutation in IFT43" EXACT [MONDO:design_pattern] -synonym: "Cranioectodermal dysplasia type 3" EXACT [MONDORULE:1, OMIM:614099] +synonym: "Cranioectodermal dysplasia type 3" EXACT [MONDORULE:1] synonym: "IFT43 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080805 {source="MONDO:equivalentTo"} xref: GARD:15757 {source="MONDO:GARD"} @@ -311399,8 +311454,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:171719"} subset: orphanet_rare {source="Orphanet:171719"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cutis laxa - Marfanoid syndrome" EXACT [OMIM:614100] -synonym: "cutis laxa, neonatal, with MARFANOID phenotype" RELATED [OMIM:614100] +synonym: "cutis laxa - Marfanoid syndrome" EXACT [icd11.foundation:467492754] +synonym: "cutis laxa, neonatal, with MARFANOID phenotype" RELATED [] xref: GARD:17069 {source="MONDO:GARD"} xref: icd11.foundation:467492754 {source="MONDO:equivalentTo"} xref: MEDGEN:96594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311433,14 +311488,14 @@ subset: orphanet_rare {source="Orphanet:183675"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "IgG subclass deficiency with IgA subclass deficiency" EXACT [Orphanet:183675] -synonym: "IGKCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614102] -synonym: "IMMUNOGLOBULIN kappa LIGHT chain deficiency" RELATED [MONDO:Lexical, OMIM:614102] +synonym: "IGKCD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "IMMUNOGLOBULIN kappa LIGHT chain deficiency" RELATED [MONDO:Lexical] synonym: "isolated IgG subclass deficiency" EXACT [Orphanet:183675] -synonym: "kappa chain deficiency" RELATED [OMIM:614102] -synonym: "kappa light chain deficiency" EXACT [OMIM:614102, OMIM:genemap2] +synonym: "kappa chain deficiency" RELATED [] +synonym: "kappa light chain deficiency" EXACT [] synonym: "kappa-chain deficiency" EXACT [Orphanet:183675] -synonym: "recurrent infections associated with rare immunoglobulin isotypes deficiency" EXACT CLINGEN_LABEL [] -synonym: "selective IgG subclass deficiency" RELATED [Orphanet:183675] +synonym: "recurrent infections associated with rare immunoglobulin isotypes deficiency" EXACT CLINGEN_LABEL [Orphanet:183675] +synonym: "selective IgG subclass deficiency" RELATED [] xref: GARD:17086 {source="MONDO:GARD"} xref: MEDGEN:481454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564131 {source="MONDO:equivalentTo"} @@ -311462,7 +311517,7 @@ id: MONDO:0013577 name: Lipedema def: "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema." [MESH:D065134] subset: otar {source="MONDO:OTAR"} -synonym: "lipedema" EXACT [MONDO:ambiguous] +synonym: "lipedema" EXACT [MONDO:ambiguous, OMIM:614103] synonym: "Lipedema (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0100695 {source="MONDO:otherHierarchy"} xref: ICD10CM:E65 {source="Orphanet:77243/attributed", source="Orphanet:77243/ntbt", source="Orphanet:77243"} @@ -311487,13 +311542,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:464306"} subset: orphanet_rare {source="Orphanet:464306"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 7" EXACT [DOID:0070037] +synonym: "autosomal dominant intellectual disability 7" EXACT [] synonym: "autosomal dominant mental retardation 7" EXACT DEPRECATED [DOID:0070037] -synonym: "autosomal dominant non-syndromic intellectual disability 7" RELATED [DOID:0070037] -synonym: "intellectual disability, autosomal dominant 7" RELATED [MONDO:Lexical, OMIM:614104] -synonym: "intellectual disability, autosomal dominant type 7" EXACT [MONDORULE:1, OMIM:614104] -synonym: "mental retardation, autosomal dominant 7" RELATED DEPRECATED [MONDO:Lexical, OMIM:614104] -synonym: "mental retardation, autosomal dominant type 7" EXACT DEPRECATED [MONDORULE:1, OMIM:614104] +synonym: "autosomal dominant non-syndromic intellectual disability 7" RELATED [] +synonym: "intellectual disability, autosomal dominant 7" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 7" EXACT [MONDORULE:1] +synonym: "mental retardation, autosomal dominant 7" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 7" EXACT DEPRECATED [MONDORULE:1] synonym: "MRD7" EXACT ABBREVIATION [DOID:0070037, MONDO:Lexical, OMIM:614104] xref: DOID:0070037 {source="MONDO:equivalentTo"} xref: GARD:13527 {source="MONDO:GARD"} @@ -311520,11 +311575,11 @@ subset: orphanet_rare {source="Orphanet:289307"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "developmental delay due to ALDH6A1 deficiency" EXACT [Orphanet:289307] -synonym: "developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] +synonym: "developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589, Orphanet:289307] synonym: "developmental delay due to MMSDH deficiency" EXACT [Orphanet:289307] -synonym: "methylmalonate semialdehyde dehydrogenase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614105] -synonym: "MMSDH deficiency" RELATED [OMIM:614105] -synonym: "MMSDHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614105] +synonym: "methylmalonate semialdehyde dehydrogenase deficiency" EXACT CLINGEN_LABEL [icd11.foundation:1700759193, MONDO:Lexical, OMIM:614105] +synonym: "MMSDH deficiency" RELATED [] +synonym: "MMSDHD" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17322 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:289307", source="Orphanet:289307/attributed", source="Orphanet:289307/ntbt"} xref: icd11.foundation:1700759193 {source="MONDO:equivalentTo"} @@ -311550,8 +311605,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "PDHBD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614111, Orphanet:255138] synonym: "pyruvate dehydrogenase complex E1 component subunit beta deficiency" EXACT [Orphanet:255138] -synonym: "pyruvate dehydrogenase E1-BETA deficiency" RELATED [OMIM:614111] -synonym: "pyruvate dehydrogenase E1-beta deficiency" EXACT [MONDO:Lexical, OMIM:614111] +synonym: "pyruvate dehydrogenase E1-BETA deficiency" RELATED [] +synonym: "pyruvate dehydrogenase E1-beta deficiency" EXACT [MONDO:Lexical, OMIM:614111, Orphanet:255138] xref: GARD:17236 {source="MONDO:GARD"} xref: ICD10CM:E74.4 {source="Orphanet:255138", source="Orphanet:255138/attributed", source="Orphanet:255138/ntbt"} xref: MEDGEN:481471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311569,15 +311624,15 @@ name: intellectual disability, autosomal dominant 2 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16458", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant intellectual disability 2" EXACT [DOID:0070032] +synonym: "autosomal dominant intellectual disability 2" EXACT [] synonym: "autosomal dominant mental retardation 2" EXACT DEPRECATED [DOID:0070032] -synonym: "autosomal dominant non-syndromic intellectual disability 2" RELATED [DOID:0070032] +synonym: "autosomal dominant non-syndromic intellectual disability 2" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8" EXACT [MONDO:design_pattern] synonym: "DOCK8 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:614113] -synonym: "intellectual disability, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:614113] -synonym: "mental retardation, autosomal dominant 2" RELATED DEPRECATED [MONDO:Lexical, OMIM:614113] -synonym: "mental retardation, autosomal dominant type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:614113] +synonym: "intellectual disability, autosomal dominant 2" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 2" EXACT [MONDORULE:1] +synonym: "mental retardation, autosomal dominant 2" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 2" EXACT DEPRECATED [MONDORULE:1] synonym: "MRD2" EXACT ABBREVIATION [DOID:0070032, MONDO:Lexical, OMIM:614113] xref: DOID:0070032 {source="MONDO:equivalentTo"} xref: GARD:16458 {source="MONDO:GARD"} @@ -311599,12 +311654,12 @@ subset: gard_rare {source="GARD:15758", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEP57 mosaic variegated aneuploidy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MOSAIC variegated aneuploidy syndrome 2" RELATED [OMIM:614114] -synonym: "mosaic variegated aneuploidy syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614114] +synonym: "MOSAIC variegated aneuploidy syndrome 2" RELATED [] +synonym: "mosaic variegated aneuploidy syndrome 2" EXACT CLINGEN_LABEL [DOID:0080142, MONDO:Lexical, NCIT:C168989, OMIM:614114] synonym: "mosaic variegated aneuploidy syndrome caused by mutation in CEP57" EXACT [MONDO:design_pattern] -synonym: "Mosaic variegated aneuploidy syndrome type 2" EXACT [MONDORULE:1, OMIM:614114] -synonym: "mosaic variegated aneuploidy syndrome type 2" EXACT [DOID:0080142, MONDORULE:1] -synonym: "MVA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614114] +synonym: "Mosaic variegated aneuploidy syndrome type 2" EXACT [MONDORULE:1] +synonym: "mosaic variegated aneuploidy syndrome type 2" EXACT [MONDORULE:1] +synonym: "MVA2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080142 {source="MONDO:equivalentTo"} xref: GARD:15758 {source="MONDO:GARD"} xref: MEDGEN:481473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311630,10 +311685,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:280640"} subset: orphanet_rare {source="Orphanet:280640"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cortical malformations, occipital" RELATED [MONDO:Lexical, OMIM:614115] +synonym: "cortical malformations, occipital" RELATED [MONDO:Lexical] synonym: "occipital malformations of cortical development" EXACT [Orphanet:280640] synonym: "occipital MCD" EXACT [Orphanet:280640] -synonym: "OCCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614115] +synonym: "OCCM" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17299 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:280640/attributed", source="Orphanet:280640/ntbt", source="Orphanet:280640"} xref: MEDGEN:481505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311656,17 +311711,17 @@ subset: rare synonym: "DNMT1-related dementia, deafness, and sensory neuropathy" RELATED [GARD:0011927] synonym: "Hereditary Sensory and Autonomic Neuropathy Type 1E" EXACT [NORD:1903] synonym: "hereditary sensory and autonomic neuropathy type 1E" RELATED [GARD:0011927] -synonym: "hereditary sensory neuropathy type 1E" RELATED [DOID:0070158] +synonym: "hereditary sensory neuropathy type 1E" RELATED [] synonym: "hereditary sensory neuropathy type IE" EXACT [DOID:0070158] synonym: "hereditary sensory neuropathy with hearing loss and dementia" RELATED [GARD:0011927] synonym: "hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome" EXACT [Orphanet:456318] synonym: "HSAN1E" EXACT ABBREVIATION [Orphanet:456318] -synonym: "HSN 1E" RELATED [OMIM:614116] +synonym: "HSN 1E" RELATED [] synonym: "HSN1E" EXACT ABBREVIATION [DOID:0070158, MONDO:Lexical, OMIM:614116, Orphanet:456318] synonym: "HSNIE" RELATED ABBREVIATION [GARD:0011927] -synonym: "neuropathy, hereditary sensory, type 1E" RELATED [OMIM:614116] -synonym: "neuropathy, hereditary sensory, type IE" RELATED [MONDO:Lexical, OMIM:614116] -synonym: "neuropathy, hereditary sensory, with hearing loss and dementia" RELATED [OMIM:614116] +synonym: "neuropathy, hereditary sensory, type 1E" RELATED [] +synonym: "neuropathy, hereditary sensory, type IE" RELATED [MONDO:Lexical] +synonym: "neuropathy, hereditary sensory, with hearing loss and dementia" RELATED [] xref: DOID:0070158 {source="MONDO:equivalentTo"} xref: GARD:11927 {source="MONDO:GARD"} xref: ICD10CM:G60.8 {source="Orphanet:456318", source="DOID:0070158", source="Orphanet:456318/attributed", source="Orphanet:456318/ntbt"} @@ -311691,10 +311746,10 @@ subset: gard_rare {source="GARD:15759", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614120] -synonym: "hydrolethalus syndrome 2" EXACT [MONDO:Lexical, OMIM:614120] +synonym: "HLS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hydrolethalus syndrome 2" EXACT [DOID:0111356, MONDO:Lexical, OMIM:614120] synonym: "hydrolethalus syndrome caused by mutation in KIF7" EXACT [MONDO:design_pattern] -synonym: "hydrolethalus syndrome type 2" EXACT [MONDORULE:1, OMIM:614120] +synonym: "hydrolethalus syndrome type 2" EXACT [MONDORULE:1] synonym: "KIF7 hydrolethalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111356 {source="MONDO:equivalentTo"} xref: GARD:15759 {source="MONDO:GARD"} @@ -311714,10 +311769,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013586 name: obsolete Chitotriosidase deficiency comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "CHITD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614122] -synonym: "CHITOTRIOSIDASE deficiency" RELATED [OMIM:614122] -synonym: "Chitotriosidase deficiency" EXACT [MONDO:Lexical, OMIM:614122] -synonym: "chitotriosidase deficiency" EXACT [OMIM:614122, OMIM:genemap2] +synonym: "CHITD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "CHITOTRIOSIDASE deficiency" RELATED [] +synonym: "Chitotriosidase deficiency" EXACT [MONDO:Lexical] +synonym: "chitotriosidase deficiency" EXACT [] xref: OMIM:614122 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -311737,10 +311792,10 @@ synonym: "glycogenosis due to lactate dehydrogenase H-subunit deficiency" EXACT synonym: "GSD due to lactate dehydrogenase H-subunit deficiency" EXACT [Orphanet:284435] synonym: "lactate dehydrogenase B deficiency" EXACT [MONDO:Lexical, OMIM:614128, Orphanet:284435] synonym: "lactate dehydrogenase deficiency type B" RELATED [GARD:0003161] -synonym: "lactate dehydrogenase-B deficiency" EXACT [OMIM:614128, OMIM:genemap2] +synonym: "lactate dehydrogenase-B deficiency" EXACT [] synonym: "LDH deficiency B" RELATED [GARD:0003161] synonym: "LDH-H subunit deficiency" EXACT [Orphanet:284435] -synonym: "LDHBD" RELATED ABBREVIATION [GARD:0003161, MONDO:Lexical, OMIM:614128] +synonym: "LDHBD" RELATED ABBREVIATION [GARD:0003161, MONDO:Lexical] xref: GARD:3161 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:284435/attributed", source="Orphanet:284435/ntbt", source="Orphanet:284435"} xref: MEDGEN:481534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311767,12 +311822,12 @@ subset: gard_rare {source="GARD:15760", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CLPP Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 81" RELATED [OMIM:614129] -synonym: "deafness, autosomal recessive 81, formerly" RELATED [OMIM:614129] +synonym: "deafness, autosomal recessive 81" RELATED [] +synonym: "deafness, autosomal recessive 81, formerly" RELATED [] synonym: "Perrault syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614129] synonym: "Perrault syndrome caused by mutation in CLPP" EXACT [MONDO:design_pattern] -synonym: "Perrault syndrome type 3" EXACT [MONDORULE:1, OMIM:614129] -synonym: "PRLTS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614129] +synonym: "Perrault syndrome type 3" EXACT [MONDORULE:1] +synonym: "PRLTS3" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15760 {source="MONDO:GARD"} xref: MEDGEN:814744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614129 {source="MONDO:equivalentTo"} @@ -311792,11 +311847,11 @@ def: "Any focal segmental glomerulosclerosis in which the cause of the disease i subset: gard_rare {source="GARD:15761", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "focal segmental glomerulosclerosis 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614131] +synonym: "focal segmental glomerulosclerosis 6" EXACT CLINGEN_LABEL [DOID:0111131, MONDO:Lexical, OMIM:614131] synonym: "focal segmental glomerulosclerosis caused by mutation in MYO1E" EXACT [MONDO:design_pattern] -synonym: "focal segmental glomerulosclerosis type 6" EXACT [DOID:0111131, MONDORULE:1, OMIM:614131] +synonym: "focal segmental glomerulosclerosis type 6" EXACT [MONDORULE:1] synonym: "FSGS6" EXACT ABBREVIATION [DOID:0111131, MONDO:Lexical, OMIM:614131] -synonym: "glomerulosclerosis, focal segmental, 6" RELATED [OMIM:614131] +synonym: "glomerulosclerosis, focal segmental, 6" RELATED [] synonym: "MYO1E focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111131 {source="MONDO:equivalentTo"} xref: GARD:15761 {source="MONDO:GARD"} @@ -311819,8 +311874,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive Stickler syndrome caused by mutation in COL9A1" EXACT [MONDO:design_pattern] synonym: "COL9A1 autosomal recessive Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "STICKLER syndrome, type IV" RELATED [MONDO:Lexical, OMIM:614134] -synonym: "STL4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614134] +synonym: "STICKLER syndrome, type IV" RELATED [MONDO:Lexical] +synonym: "STL4" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18358 {source="MONDO:GARD"} xref: MEDGEN:481571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614134 {source="MONDO:equivalentTo"} @@ -311839,9 +311894,9 @@ subset: gard_rare {source="GARD:13376", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "COL9A1 multiple epiphyseal dysplasia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "EDM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614135] +synonym: "EDM6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "epiphyseal dysplasia, multiple, 6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614135] -synonym: "epiphyseal dysplasia, multiple, type 6" EXACT [MONDORULE:1, OMIM:614135] +synonym: "epiphyseal dysplasia, multiple, type 6" EXACT [MONDORULE:1] synonym: "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1" EXACT [] synonym: "multiple epiphyseal dysplasia 6" RELATED [GARD:0013376] xref: DOID:0070301 {source="MONDO:equivalentTo"} @@ -311863,12 +311918,12 @@ id: MONDO:0013592 name: nonsyndromic congenital nail disorder 9 subset: gard_rare {source="GARD:15762", source="MONDO:GARD"} subset: rare -synonym: "anonychia-onycholysis, isolated" RELATED [OMIM:614149] -synonym: "nail disorder, nonsyndromic congenital, 9" RELATED [MONDO:Lexical, OMIM:614149] -synonym: "nail dysplasia" RELATED [OMIM:614149] -synonym: "NDNC9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614149] -synonym: "nonsyndromic congenital nail disorder type 9" EXACT [DOID:0080087, MONDORULE:1] -synonym: "onychodystrophy" RELATED [OMIM:614149] +synonym: "anonychia-onycholysis, isolated" RELATED [] +synonym: "nail disorder, nonsyndromic congenital, 9" RELATED [MONDO:Lexical] +synonym: "nail dysplasia" RELATED [] +synonym: "NDNC9" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "nonsyndromic congenital nail disorder type 9" EXACT [MONDORULE:1] +synonym: "onychodystrophy" RELATED [] xref: DOID:0080087 {source="MONDO:equivalentTo"} xref: GARD:15762 {source="MONDO:GARD"} xref: ICD9:703.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -311891,13 +311946,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18134", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 64" NARROW [DOID:0110585] -synonym: "autosomal dominant nonsyndromic deafness 64" NARROW [OMIM:614152] +synonym: "autosomal dominant deafness 64" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 64" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIABLO" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 64" NARROW [DOID:0110585, MONDORULE:2] -synonym: "deafness, autosomal dominant 64" NARROW [MONDO:Lexical, OMIM:614152, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 64" NARROW [MONDORULE:2, OMIM:614152] -synonym: "DFNA64" NARROW ABBREVIATION [DOID:0110585, MONDO:Lexical, OMIM:614152] +synonym: "autosomal dominant nonsyndromic deafness type 64" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 64" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 64" NARROW [MONDORULE:2] +synonym: "DFNA64" NARROW ABBREVIATION [MONDO:Lexical] synonym: "DIABLO autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110585 {source="MONDO:equivalentTo"} xref: GARD:18134 {source="MONDO:GARD"} @@ -311923,9 +311978,9 @@ subset: orphanet_rare {source="Orphanet:276198"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Asidan" EXACT [Orphanet:276198] -synonym: "SCA36" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614153, Orphanet:276198] -synonym: "spinocerebellar ataxia 36" RELATED [MONDO:Lexical, OMIM:614153] -synonym: "spinocerebellar ataxia type 36" EXACT [MONDORULE:2, OMIM:614153] +synonym: "SCA36" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C148316, OMIM:614153, Orphanet:276198] +synonym: "spinocerebellar ataxia 36" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 36" EXACT [DOID:0050983, icd11.foundation:1544814018, MONDORULE:2, NCIT:C148316, Orphanet:276198] xref: DOID:0050983 {source="MONDO:equivalentTo"} xref: GARD:12367 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:276198", source="Orphanet:276198/attributed", source="Orphanet:276198/ntbt"} @@ -311951,8 +312006,8 @@ subset: orphanet_rare {source="Orphanet:276405"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "green jaundice" EXACT [OMIM:614156, Orphanet:276405] -synonym: "HBLVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614156] -synonym: "hyperbiliverdinemia" EXACT [MONDO:Lexical, OMIM:614156] +synonym: "HBLVD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperbiliverdinemia" EXACT [MONDO:Lexical, OMIM:614156, Orphanet:276405] xref: GARD:17279 {source="MONDO:GARD"} xref: ICD10CM:K76.8 {source="Orphanet:276405/attributed", source="Orphanet:276405/ntbt", source="Orphanet:276405"} xref: MEDGEN:481594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -311978,11 +312033,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BDPLT14" EXACT ABBREVIATION [DOID:0111047, MONDO:Lexical, OMIM:614158] -synonym: "bleeding disorder, platelet-type, 14" RELATED [MONDO:Lexical, OMIM:614158] +synonym: "bleeding disorder, platelet-type, 14" RELATED [MONDO:Lexical] synonym: "inherited bleeding disorder, platelet-type caused by mutation in TBXAS1" EXACT [MONDO:design_pattern] synonym: "TBXAS1 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "thromboxane synthase deficiency" EXACT [DOID:0111047] -synonym: "thromboxane synthetase deficiency" RELATED [OMIM:614158] +synonym: "thromboxane synthetase deficiency" RELATED [] xref: DOID:0111047 {source="MONDO:equivalentTo"} xref: MEDGEN:98307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562866 {source="MONDO:equivalentTo"} @@ -312002,7 +312057,7 @@ name: myostatin-related muscle hypertrophy def: "Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance." [https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy] subset: otar {source="MONDO:OTAR"} synonym: "MSLHP" EXACT ABBREVIATION [DOID:0111072, MONDO:Lexical, OMIM:614160] -synonym: "muscle hypertrophy" RELATED [MONDO:Lexical, OMIM:614160] +synonym: "muscle hypertrophy" RELATED [MONDO:Lexical] xref: DOID:0111072 {source="MONDO:equivalentTo"} xref: HGNC:4223 {source="GARD:0010238"} xref: ICD9:756.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -312031,13 +312086,13 @@ subset: rare synonym: "CANDF7" RELATED ABBREVIATION [GARD:0012314] synonym: "candidiasis familial chronic mucocutaneous, autosomal dominant" RELATED [GARD:0012314] synonym: "candidiasis familial, 7" RELATED [GARD:0012314] -synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant" RELATED [OMIM:614162] -synonym: "candidiasis, familial, 7" RELATED [OMIM:614162] +synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant" RELATED [] +synonym: "candidiasis, familial, 7" RELATED [] synonym: "familial chronic mucocutaneous, autosomal dominant" RELATED [GARD:0012314] -synonym: "IMD31C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614162] -synonym: "immunodeficiency 31C" RELATED [MONDO:Lexical, OMIM:614162] -synonym: "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant" EXACT [OMIM:614162, OMIM:genemap2] -synonym: "immunodeficiency type 31C" EXACT [MONDORULE:4, OMIM:614162] +synonym: "IMD31C" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 31C" RELATED [MONDO:Lexical] +synonym: "immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant" EXACT [] +synonym: "immunodeficiency type 31C" EXACT [MONDORULE:4] xref: DOID:0111946 {source="MONDO:equivalentTo"} xref: GARD:12314 {source="MONDO:GARD"} xref: ICD10CM:K63.9 {source="Orphanet:391487/attributed", source="Orphanet:391487/ntbt", source="Orphanet:391487"} @@ -312058,11 +312113,11 @@ id: MONDO:0013600 name: insomnia def: "A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep." [NCIT:P378] subset: otar {source="MONDO:OTAR"} -synonym: "delayed sleep phase disorder, susceptibility to" RELATED [OMIM:614163] -synonym: "delayed sleep phase syndrome, susceptibility to" RELATED [MONDO:Lexical, OMIM:614163] -synonym: "DSPD" RELATED ABBREVIATION [OMIM:614163] -synonym: "DSPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614163] -synonym: "insomnia" EXACT [MONDO:ambiguous] +synonym: "delayed sleep phase disorder, susceptibility to" RELATED [] +synonym: "delayed sleep phase syndrome, susceptibility to" RELATED [MONDO:Lexical] +synonym: "DSPD" RELATED ABBREVIATION [] +synonym: "DSPS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "insomnia" EXACT [ICD10CM:G47.0, MONDO:ambiguous, NCIT:C28286] synonym: "insomnia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:0004698 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0100785 {source="EFO:0004698", source="MONDO:otherHierarchy"} @@ -312085,11 +312140,11 @@ id: MONDO:0013601 name: gluthathione peroxidase deficiency subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glutathione peroxidase deficiency" RELATED [MONDO:Lexical, OMIM:614164] +synonym: "glutathione peroxidase deficiency" RELATED [MONDO:Lexical] synonym: "gluthathione peroxidase deficiency" EXACT [] -synonym: "GPXD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614164] +synonym: "GPXD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hemolytic anaemia due to glutathione peroxidase deficiency" EXACT OMO:0003005 [] -synonym: "hemolytic anemia due to glutathione peroxidase deficiency" EXACT [OMIM:614164, OMIM:genemap2] +synonym: "hemolytic anemia due to glutathione peroxidase deficiency" EXACT [] xref: MEDGEN:473098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614164 {source="MONDO:equivalentTo"} xref: SCTID:234590006 {source="MONDO:equivalentTo"} @@ -312109,8 +312164,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "paraganglioma caused by mutation in SDHA" EXACT [MONDO:design_pattern] synonym: "paragangliomas 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614165] -synonym: "paragangliomas type 5" EXACT [MONDORULE:1, OMIM:614165] -synonym: "PGL5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614165] +synonym: "paragangliomas type 5" EXACT [MONDORULE:1] +synonym: "PGL5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SDHA paraganglioma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15763 {source="MONDO:GARD"} xref: MEDGEN:481622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -312141,7 +312196,7 @@ name: myopia 21, autosomal dominant def: "Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene." [MONDO:patterns/disease_series_by_gene] synonym: "myopia (disease) caused by mutation in ZNF644" EXACT [] synonym: "myopia 21, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614167] -synonym: "MYP21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614167] +synonym: "MYP21" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ZNF644 myopia (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: MEDGEN:481627 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614167 {source="MONDO:equivalentTo"} @@ -312159,10 +312214,10 @@ def: "Any brittle cornea syndrome in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15764", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BCS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614170] -synonym: "brittle cornea syndrome 2" EXACT [MONDO:Lexical, OMIM:614170] +synonym: "BCS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "brittle cornea syndrome 2" EXACT [DOID:0080729, MONDO:Lexical, OMIM:614170] synonym: "brittle cornea syndrome caused by mutation in PRDM5" EXACT [MONDO:design_pattern] -synonym: "brittle cornea syndrome type 2" EXACT [MONDORULE:1, OMIM:614170] +synonym: "brittle cornea syndrome type 2" EXACT [MONDORULE:1] synonym: "PRDM5 brittle cornea syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080729 {source="MONDO:equivalentTo"} xref: GARD:15764 {source="MONDO:GARD"} @@ -312186,10 +312241,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BLOC1S6 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Hermansky-Pudlak syndrome 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614171] +synonym: "Hermansky-Pudlak syndrome 9" EXACT CLINGEN_LABEL [DOID:0060547, MONDO:Lexical, OMIM:614171] synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S6" EXACT [MONDO:design_pattern] -synonym: "Hermansky-Pudlak syndrome type 9" EXACT [DOID:0060547, MONDORULE:1, OMIM:614171] -synonym: "HPS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614171, Orphanet:280663] +synonym: "Hermansky-Pudlak syndrome type 9" EXACT [MONDORULE:1] +synonym: "HPS9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614171] xref: DOID:0060547 {source="MONDO:equivalentTo"} xref: GARD:18338 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:280663", source="Orphanet:280663/attributed", source="Orphanet:280663/ntbt"} @@ -312215,20 +312270,20 @@ subset: orphanet_rare {source="Orphanet:228423"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections" EXACT [Orphanet:228423] -synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections" RELATED [OMIM:614172] +synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections" EXACT [DOID:0111947] +synonym: "combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections" RELATED [] synonym: "DCML" RELATED ABBREVIATION [GARD:0010934] -synonym: "Dendritic cell, monocyte, B and NK lymphoid deficiency" EXACT [Orphanet:228423] -synonym: "Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency" RELATED [OMIM:614172] -synonym: "GATA2 deficiency" RELATED [OMIM:614172] -synonym: "IMD21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614172] -synonym: "immunodeficiency 21" RELATED [MONDO:Lexical, OMIM:614172] -synonym: "immunodeficiency type 21" EXACT [MONDORULE:2, OMIM:614172] +synonym: "Dendritic cell, monocyte, B and NK lymphoid deficiency" EXACT [DOID:0111947] +synonym: "Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency" RELATED [] +synonym: "GATA2 deficiency" RELATED [] +synonym: "IMD21" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 21" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 21" EXACT [MONDORULE:2] synonym: "monocyte - B - natural killer - dendritic cell deficiency" RELATED [GARD:0010934] -synonym: "monocyte-B-natural killer-dendritic cell deficiency syndrome" EXACT [Orphanet:228423] -synonym: "monocytopenia and mycobacterial infection syndrome" EXACT [OMIM:614172, Orphanet:228423] -synonym: "monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia" RELATED [OMIM:614172] -synonym: "MonoMAC" EXACT [Orphanet:228423] +synonym: "monocyte-B-natural killer-dendritic cell deficiency syndrome" EXACT [DOID:0111947] +synonym: "monocytopenia and mycobacterial infection syndrome" EXACT [DOID:0111947, OMIM:614172] +synonym: "monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia" RELATED [] +synonym: "MonoMAC" EXACT ABBREVIATION [DOID:0111947] xref: DOID:0111947 {source="MONDO:equivalentTo"} xref: GARD:10934 {source="MONDO:GARD"} xref: ICD10CM:D72.8 {source="Orphanet:228423/attributed", source="Orphanet:228423/ntbt", source="Orphanet:228423"} @@ -312248,9 +312303,9 @@ subset: gard_rare {source="GARD:15765", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS13" EXACT ABBREVIATION [DOID:0110982, MONDO:Lexical, OMIM:614173] -synonym: "Joubert syndrome 13" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614173] +synonym: "Joubert syndrome 13" EXACT CLINGEN_LABEL [DOID:0110982, MONDO:Lexical, OMIM:614173] synonym: "Joubert syndrome caused by mutation in TCTN1" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 13" EXACT [DOID:0110982, MONDORULE:2, OMIM:614173] +synonym: "Joubert syndrome type 13" EXACT [MONDORULE:2] synonym: "TCTN1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110982 {source="MONDO:equivalentTo"} xref: GARD:15765 {source="MONDO:GARD"} @@ -312271,11 +312326,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "B9D2 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS34" RELATED ABBREVIATION [GTR:AN1012610] -synonym: "Joubert syndrome 34" RELATED [GTR:AN1012156, OMIM:614175] -synonym: "meckel syndrome 10" EXACT [OMIM:614175, OMIM:genemap2] +synonym: "Joubert syndrome 34" RELATED [GTR:AN1012156] +synonym: "meckel syndrome 10" EXACT [] synonym: "Meckel syndrome caused by mutation in B9D2" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 10" EXACT [MONDO:Lexical, OMIM:614175] -synonym: "MKS10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614175] +synonym: "MKS10" RELATED ABBREVIATION [MONDO:Lexical] xref: GTR:AN1012156 xref: GTR:AN1012610 xref: MEDGEN:481666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -312296,9 +312351,9 @@ subset: gard_rare {source="GARD:15766", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CLRN1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 61" EXACT [MONDO:Lexical, OMIM:614180] +synonym: "retinitis pigmentosa 61" EXACT [DOID:0110373, MONDO:Lexical, OMIM:614180] synonym: "retinitis pigmentosa caused by mutation in CLRN1" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 61" EXACT [DOID:0110373, MONDORULE:2, OMIM:614180] +synonym: "retinitis pigmentosa type 61" EXACT [MONDORULE:2] synonym: "RP61" EXACT ABBREVIATION [DOID:0110373, MONDO:Lexical, OMIM:614180] xref: DOID:0110373 {source="MONDO:equivalentTo"} xref: GARD:15766 {source="MONDO:GARD"} @@ -312317,9 +312372,9 @@ subset: gard_rare {source="GARD:15767", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "MAK retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 62" EXACT [MONDO:Lexical, OMIM:614181] +synonym: "retinitis pigmentosa 62" EXACT [DOID:0110380, MONDO:Lexical, OMIM:614181] synonym: "retinitis pigmentosa caused by mutation in MAK" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 62" EXACT [DOID:0110380, MONDORULE:2, OMIM:614181] +synonym: "retinitis pigmentosa type 62" EXACT [MONDORULE:2] synonym: "RP62" EXACT ABBREVIATION [DOID:0110380, MONDO:Lexical, OMIM:614181] xref: DOID:0110380 {source="MONDO:equivalentTo"} xref: GARD:15767 {source="MONDO:GARD"} @@ -312343,11 +312398,11 @@ subset: gard_rare {source="GARD:15768", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FBN1 geleophysic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "GELEOPHYSIC dysplasia 2" RELATED [OMIM:614185] -synonym: "Geleophysic dysplasia 2" EXACT [MONDO:Lexical, OMIM:614185] +synonym: "GELEOPHYSIC dysplasia 2" RELATED [] +synonym: "Geleophysic dysplasia 2" EXACT [DOID:0111726, MONDO:Lexical, OMIM:614185] synonym: "geleophysic dysplasia caused by mutation in FBN1" EXACT [MONDO:design_pattern] -synonym: "Geleophysic dysplasia type 2" EXACT [MONDORULE:1, OMIM:614185] -synonym: "GPHYSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614185] +synonym: "Geleophysic dysplasia type 2" EXACT [MONDORULE:1] +synonym: "GPHYSD2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111726 {source="MONDO:equivalentTo"} xref: GARD:15768 {source="MONDO:GARD"} xref: MEDGEN:481684 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -312370,9 +312425,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "KCNJ13 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA16" EXACT ABBREVIATION [DOID:0110118, MONDO:Lexical, OMIM:614186] -synonym: "Leber congenital amaurosis 16" EXACT [MONDO:Lexical, OMIM:614186] +synonym: "Leber congenital amaurosis 16" EXACT [DOID:0110118, MONDO:Lexical, OMIM:614186] synonym: "Leber congenital amaurosis caused by mutation in KCNJ13" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 16" EXACT [DOID:0110118, MONDORULE:2, OMIM:614186] +synonym: "Leber congenital amaurosis type 16" EXACT [MONDORULE:2] xref: DOID:0110118 {source="MONDO:equivalentTo"} xref: GARD:10885 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="DOID:0110118", source="MONDO:relatedTo"} @@ -312396,7 +312451,7 @@ subset: orphanet_rare {source="Orphanet:293958"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HPPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614187, Orphanet:293958] -synonym: "hypertelorism, preauricular sinus, punctal pits, and deafness" RELATED [MONDO:Lexical, OMIM:614187] +synonym: "hypertelorism, preauricular sinus, punctal pits, and deafness" RELATED [MONDO:Lexical] synonym: "hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome" EXACT [Orphanet:293958] xref: GARD:17351 {source="MONDO:GARD"} xref: MEDGEN:1659106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -312416,8 +312471,8 @@ subset: orphanet_rare {source="Orphanet:284149"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "craniosynostosis and dental anomalies" EXACT [MONDO:Lexical, OMIM:614188] -synonym: "craniosynostosis-dental anomalies" RELATED [Orphanet:284149] -synonym: "CRSDA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614188] +synonym: "craniosynostosis-dental anomalies" RELATED [] +synonym: "CRSDA" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Kreiborg-Pakistani syndrome" EXACT [OMIM:614188, Orphanet:284149] xref: GARD:17309 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:284149/attributed", source="Orphanet:284149/ntbt", source="Orphanet:284149"} @@ -312437,11 +312492,11 @@ def: "Any primary pigmented nodular adrenocortical disease in which the cause of subset: gard_rare {source="GARD:15769", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Cushing syndrome, adrenal, due to PPNAD3" RELATED [OMIM:614190] +synonym: "Cushing syndrome, adrenal, due to PPNAD3" RELATED [] synonym: "PDE8B primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pigmented nodular adrenocortical disease, primary, 3" EXACT [MONDO:Lexical, OMIM:614190] -synonym: "pigmented nodular adrenocortical disease, primary, type 3" EXACT [MONDORULE:1, OMIM:614190] -synonym: "PPNAD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614190] +synonym: "pigmented nodular adrenocortical disease, primary, type 3" EXACT [MONDORULE:1] +synonym: "PPNAD3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PDE8B" EXACT [MONDO:design_pattern] xref: DOID:0070548 {source="MONDO:equivalentTo"} xref: GARD:15769 {source="MONDO:GARD"} @@ -312467,7 +312522,7 @@ replaced_by: MONDO:0013357 id: MONDO:0013618 name: craniofacial anomalies and anterior segment dysgenesis syndrome subset: otar {source="MONDO:OTAR"} -synonym: "CAASDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614195] +synonym: "CAASDS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "craniofacial anomalies and anterior segment dysgenesis syndrome" EXACT [MONDO:Lexical, OMIM:614195] xref: MEDGEN:481729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614195 {source="MONDO:equivalentTo"} @@ -312483,7 +312538,7 @@ subset: gard_rare {source="GARD:15770", source="MONDO:GARD"} subset: rare synonym: "nephrotic syndrome caused by mutation in PTPRO" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 6" EXACT [MONDO:Lexical, OMIM:614196] -synonym: "NPHS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614196] +synonym: "NPHS6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PTPRO nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080384 {source="MONDO:equivalentTo"} xref: GARD:15770 {source="MONDO:GARD"} @@ -312507,10 +312562,10 @@ subset: rare synonym: "CMS16" EXACT ABBREVIATION [DOID:0110682, MONDO:Lexical, OMIM:614198] synonym: "congenital myasthenic syndrome acetazolamide-responsive" EXACT [DOID:0110682] synonym: "congenital myasthenic syndrome caused by mutation in SCN4A" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 16" EXACT [DOID:0110682, MONDORULE:2] -synonym: "myasthenic syndrome, congenital, 16" RELATED [MONDO:Lexical, OMIM:614198] -synonym: "myasthenic syndrome, congenital, Acetazolamide-responsive" RELATED [OMIM:614198] -synonym: "myasthenic syndrome, congenital, type 16" EXACT [MONDORULE:2, OMIM:614198] +synonym: "congenital myasthenic syndrome type 16" EXACT [MONDORULE:2] +synonym: "myasthenic syndrome, congenital, 16" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, Acetazolamide-responsive" RELATED [] +synonym: "myasthenic syndrome, congenital, type 16" EXACT [MONDORULE:2] synonym: "SCN4A congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110682 {source="MONDO:equivalentTo"} xref: GARD:15771 {source="MONDO:GARD"} @@ -312533,9 +312588,9 @@ id: MONDO:0013621 name: LAMB2-related infantile-onset nephrotic syndrome def: "LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal." [Orphanet:306507] subset: otar {source="MONDO:OTAR"} -synonym: "mesangial sclerosis, diffuse renal, with ocular abnormalities" EXACT [MONDO:0009586, OMIM:249660] -synonym: "nephrotic syndrome, type 5, with or without ocular abnormalities" RELATED [MONDO:Lexical, OMIM:614199] -synonym: "NPHS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614199] +synonym: "mesangial sclerosis, diffuse renal, with ocular abnormalities" EXACT [MONDO:0009586, OMIM:614199] +synonym: "nephrotic syndrome, type 5, with or without ocular abnormalities" RELATED [MONDO:Lexical] +synonym: "NPHS5" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080380 {source="MONDO:equivalentTo"} xref: ICD10CM:N04.8 {source="Orphanet:306507/attributed", source="Orphanet:306507/ntbt", source="Orphanet:306507"} xref: MEDGEN:481743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -312563,10 +312618,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:98886"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDPLT9" EXACT ABBREVIATION [DOID:0111045, MONDO:Lexical, OMIM:614200] -synonym: "bleeding diathesis due to integrin alpha2-beta1 deficiency" RELATED [Orphanet:98886] -synonym: "bleeding disorder, platelet-type, 9" RELATED [MONDO:Lexical, OMIM:614200] -synonym: "collagen platelet receptor deficiency" EXACT [DOID:0111045] -synonym: "glycoprotein Ia deficiency" EXACT [DOID:0111045] +synonym: "bleeding diathesis due to integrin alpha2-beta1 deficiency" RELATED [] +synonym: "bleeding disorder, platelet-type, 9" RELATED [MONDO:Lexical] +synonym: "collagen platelet receptor deficiency" EXACT [DOID:0111045, OMIM:614200] +synonym: "glycoprotein Ia deficiency" EXACT [DOID:0111045, OMIM:614200] synonym: "GP Ia deficiency" EXACT [DOID:0111045, OMIM:614200] synonym: "inherited bleeding disorder, platelet-type caused by mutation in ITGA2" EXACT [MONDO:design_pattern] synonym: "ITGA2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -312596,15 +312651,15 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:98885"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDPLT11" EXACT ABBREVIATION [DOID:0111057, MONDO:Lexical, OMIM:614201] -synonym: "bleeding diathesis due to glycoprotein VI deficiency" RELATED [Orphanet:98885] -synonym: "bleeding disorder, platelet-type, 11" RELATED [MONDO:Lexical, OMIM:614201] -synonym: "glycoprotein 6 deficiency" RELATED [OMIM:614201] +synonym: "bleeding diathesis due to glycoprotein VI deficiency" RELATED [] +synonym: "bleeding disorder, platelet-type, 11" RELATED [MONDO:Lexical] +synonym: "glycoprotein 6 deficiency" RELATED [] synonym: "glycoprotein VI deficiency" EXACT [DOID:0111057] -synonym: "GP 6 deficiency" RELATED [OMIM:614201] +synonym: "GP 6 deficiency" RELATED [] synonym: "GP VI deficiency" EXACT [DOID:0111057] synonym: "GP6 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "inherited bleeding disorder, platelet-type caused by mutation in GP6" EXACT [MONDO:design_pattern] -synonym: "platelet-type bleeding disorder 11" EXACT CLINGEN_LABEL [] +synonym: "platelet-type bleeding disorder 11" EXACT CLINGEN_LABEL [DOID:0111057] synonym: "platelet-type bleeding disorder-11" RELATED [GARD:0013293] xref: DOID:0111057 {source="MONDO:equivalentTo"} xref: GARD:13293 {source="MONDO:GARD"} @@ -312631,11 +312686,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1" EXACT [MONDO:design_pattern] synonym: "CDG2U" EXACT [OMIM:614202] -synonym: "intellectual disability, autosomal recessive 15" EXACT [OMIM:614202] +synonym: "intellectual disability, autosomal recessive 15" EXACT [] synonym: "MAN1B1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mental retardation, autosomal recessive 15" EXACT DEPRECATED [DOID:1059, MONDO:Lexical, OMIM:614202] -synonym: "mental retardation, autosomal recessive type 15" EXACT DEPRECATED [MONDORULE:2, OMIM:614202] -synonym: "MRT15" RELATED DEPRECATED [MONDO:Lexical, OMIM:614202] +synonym: "mental retardation, autosomal recessive 15" EXACT DEPRECATED [DOID:0081097, MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 15" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT15" RELATED DEPRECATED [MONDO:Lexical] synonym: "RAFQS" EXACT ABBREVIATION [OMIM:614202] xref: DOID:0081097 {source="MONDO:equivalentTo"} xref: GARD:22550 {source="MONDO:GARD"} @@ -312657,11 +312712,11 @@ subset: gard_rare {source="GARD:18478", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant Parkinson disease 17" EXACT [DOID:0060897] -synonym: "PARK17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614203] -synonym: "Parkinson disease 17" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614203] +synonym: "PARK17" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Parkinson disease 17" EXACT CLINGEN_LABEL [DOID:0060897, MONDO:Lexical, OMIM:614203] synonym: "Parkinson disease caused by mutation in VPS35" EXACT [MONDO:design_pattern] -synonym: "Parkinson disease type 17" EXACT [DOID:0060897, MONDORULE:2, OMIM:614203] -synonym: "Parkinson's disease 17" RELATED [DOID:0060897] +synonym: "Parkinson disease type 17" EXACT [MONDORULE:2] +synonym: "Parkinson's disease 17" RELATED [] synonym: "VPS35 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060897 {source="MONDO:equivalentTo"} xref: GARD:18478 {source="MONDO:GARD"} @@ -312685,23 +312740,23 @@ subset: ordo_disorder {source="Orphanet:404546", source="Orphanet:163931"} subset: orphanet_rare {source="Orphanet:404546", source="Orphanet:163931"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrodermatitis continua of Hallopeau" EXACT [OMIM:614204] -synonym: "acrodermatitis continua suppurativa of Hallopeau" EXACT [OMIM:614204] -synonym: "deficiency of IL-36R antagonist" EXACT [Orphanet:404546] +synonym: "acrodermatitis continua of Hallopeau" EXACT [DOID:0080474, OMIM:614204, Orphanet:163931] +synonym: "acrodermatitis continua suppurativa of Hallopeau" EXACT [] +synonym: "deficiency of IL-36R antagonist" EXACT [DOID:0080474, Orphanet:404546] synonym: "deficiency of IL-36Ra" EXACT [Orphanet:404546] synonym: "deficiency of the interleukin-36 receptor antagonist" EXACT [NCIT:C119057] -synonym: "DITRA" EXACT ABBREVIATION [NCIT:C119057, OMIM:614204] +synonym: "DITRA" EXACT ABBREVIATION [Orphanet:404546] synonym: "familial generalised pustular psoriasis" EXACT OMO:0003005 [] -synonym: "familial generalized pustular psoriasis" EXACT [NCIT:C119057] +synonym: "familial generalized pustular psoriasis" EXACT [] synonym: "generalised pustular psoriasis" RELATED OMO:0003005 [] -synonym: "generalized pustular psoriasis" RELATED [OMIM:614204] -synonym: "GPP" RELATED ABBREVIATION [OMIM:614204, Orphanet:247353] +synonym: "generalized pustular psoriasis" RELATED [] +synonym: "GPP" RELATED ABBREVIATION [] synonym: "IL36RN psoriasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Interleukin 36 receptor antagonist deficiency" EXACT [OMIM:614204] -synonym: "palmoplantar pustulosis" BROAD [OMIM:614204] +synonym: "palmoplantar pustulosis" BROAD [] synonym: "psoriasis 14, pustular" EXACT [MONDO:Lexical, OMIM:614204] synonym: "psoriasis caused by mutation in IL36RN" EXACT [MONDO:design_pattern] -synonym: "PSORP" EXACT ABBREVIATION [NCIT:C119057, OMIM:614204] +synonym: "PSORP" EXACT ABBREVIATION [OMIM:614204] synonym: "PSORS14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614204] xref: DOID:0080474 {source="MONDO:equivalentTo"} xref: GARD:17679 {source="MONDO:GARD"} @@ -312737,13 +312792,13 @@ def: "Any 3-M syndrome in which the cause of the disease is a mutation in the CC subset: gard_rare {source="GARD:15772", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "3-M syndrome 3" EXACT [OMIM:614205, OMIM:genemap2] +synonym: "3-M syndrome 3" EXACT [] synonym: "3-M syndrome caused by mutation in CCDC8" EXACT [MONDO:design_pattern] synonym: "3M syndrome 3" EXACT CLINGEN_LABEL [OMIM:614205] -synonym: "3M3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614205] +synonym: "3M3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CCDC8 3-M syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "three M syndrome 3" EXACT [MONDO:Lexical, OMIM:614205] -synonym: "three M syndrome type 3" EXACT [MONDORULE:1, OMIM:614205] +synonym: "three M syndrome type 3" EXACT [MONDORULE:1] xref: GARD:15772 {source="MONDO:GARD"} xref: MEDGEN:481776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614205 {source="MONDO:equivalentTo"} @@ -312765,17 +312820,17 @@ def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause subset: gard_rare {source="GARD:18350", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "glycosylphosphatidylinositol biosynthesis defect 8" RELATED [OMIM:614207] -synonym: "HPMRS3" RELATED DEPRECATED [MONDO:Lexical, OMIM:614207] -synonym: "hyperphosphatasia with intellectual disability syndrome 3" EXACT [MONDO:Lexical, OMIM:614207] -synonym: "hyperphosphatasia with intellectual disability syndrome type 3" EXACT [MONDORULE:1, OMIM:614207] -synonym: "hyperphosphatasia with mental retardation syndrome 3" EXACT DEPRECATED [MONDO:Lexical, OMIM:614207] -synonym: "hyperphosphatasia with mental retardation syndrome type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:614207] +synonym: "glycosylphosphatidylinositol biosynthesis defect 8" RELATED [] +synonym: "HPMRS3" RELATED DEPRECATED [MONDO:Lexical] +synonym: "hyperphosphatasia with intellectual disability syndrome 3" EXACT [MONDO:Lexical] +synonym: "hyperphosphatasia with intellectual disability syndrome type 3" EXACT [MONDORULE:1] +synonym: "hyperphosphatasia with mental retardation syndrome 3" EXACT DEPRECATED [DOID:0070435, MONDO:Lexical] +synonym: "hyperphosphatasia with mental retardation syndrome type 3" EXACT DEPRECATED [MONDORULE:1] synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal recessive 17" RELATED [OMIM:614207] -synonym: "intellectual disability, autosomal recessive 21" RELATED [OMIM:614207] -synonym: "mental retardation, autosomal recessive 17" RELATED DEPRECATED [OMIM:614207] -synonym: "mental retardation, autosomal recessive 21" RELATED DEPRECATED [OMIM:614207] +synonym: "intellectual disability, autosomal recessive 17" RELATED [] +synonym: "intellectual disability, autosomal recessive 21" RELATED [] +synonym: "mental retardation, autosomal recessive 17" RELATED DEPRECATED [] +synonym: "mental retardation, autosomal recessive 21" RELATED DEPRECATED [] synonym: "PGAP2 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070435 {source="MONDO:equivalentTo"} xref: GARD:18350 {source="MONDO:GARD"} @@ -312794,8 +312849,8 @@ name: intellectual disability, autosomal recessive 16 subset: gard_rare {source="GARD:22551", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 16" EXACT [MONDO:Lexical, OMIM:614208] -synonym: "mental retardation, autosomal recessive 16" RELATED DEPRECATED [MONDO:Lexical, OMIM:614208] +synonym: "intellectual disability, autosomal recessive 16" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 16" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRT16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614208] xref: DOID:0081189 {source="MONDO:equivalentTo"} xref: GARD:22551 {source="MONDO:GARD"} @@ -312811,10 +312866,10 @@ def: "Any Meckel syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:15773", source="MONDO:GARD"} subset: rare synonym: "B9D1 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "meckel syndrome 9" EXACT [OMIM:614209, OMIM:genemap2] +synonym: "meckel syndrome 9" EXACT [] synonym: "Meckel syndrome caused by mutation in B9D1" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 9" EXACT [MONDO:Lexical, OMIM:614209] -synonym: "MKS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614209] +synonym: "MKS9" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15773 {source="MONDO:GARD"} xref: MEDGEN:481785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614209 {source="MONDO:equivalentTo"} @@ -312848,11 +312903,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18135", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 33" NARROW [DOID:0110562] -synonym: "autosomal dominant nonsyndromic deafness 33" NARROW [OMIM:614211] -synonym: "autosomal dominant nonsyndromic deafness type 33" NARROW [DOID:0110562, MONDORULE:2] -synonym: "deafness, autosomal dominant 33" NARROW [MONDO:Lexical, OMIM:614211, OMIM:genemap2] -synonym: "DFNA33" NARROW ABBREVIATION [DOID:0110562, MONDO:Lexical, OMIM:614211] +synonym: "autosomal dominant deafness 33" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 33" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 33" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 33" NARROW [MONDO:Lexical] +synonym: "DFNA33" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110562 {source="MONDO:equivalentTo"} xref: GARD:18135 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110562"} @@ -312871,10 +312926,10 @@ def: "Any encephalopathy, acute, infection-induced in which the cause of the dis subset: predisposition synonym: "CPT2 encephalopathy, acute, infection-induced" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "encephalopathy, acute, infection-induced caused by mutation in CPT2" EXACT [MONDO:design_pattern] -synonym: "encephalopathy, acute, infection-induced, 4, susceptibility to" EXACT [OMIM:614212, OMIM:genemap2] +synonym: "encephalopathy, acute, infection-induced, 4, susceptibility to" EXACT [] synonym: "encephalopathy, acute, infection-induced, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:614212] -synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614212] -synonym: "IIAE4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614212] +synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 4" EXACT [MONDORULE:1] +synonym: "IIAE4" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:481790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614212 {source="MONDO:equivalentTo"} xref: Orphanet:263524 {source="OMIM:614212"} @@ -312897,11 +312952,11 @@ subset: gard_rare {source="GARD:15774", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A" EXACT [MONDO:design_pattern] -synonym: "hereditary sensory neuropathy type 2C" RELATED [DOID:0070147] +synonym: "hereditary sensory neuropathy type 2C" RELATED [] synonym: "hereditary sensory neuropathy type IIC" EXACT [DOID:0070147] synonym: "HSN2C" EXACT ABBREVIATION [DOID:0070147, MONDO:Lexical, OMIM:614213] synonym: "KIF1A hereditary sensory and autonomic neuropathy type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "neuropathy, hereditary sensory, type IIC" RELATED [MONDO:Lexical, OMIM:614213] +synonym: "neuropathy, hereditary sensory, type IIC" RELATED [MONDO:Lexical] xref: DOID:0070147 {source="MONDO:equivalentTo"} xref: GARD:15774 {source="MONDO:GARD"} xref: MEDGEN:481798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -312923,8 +312978,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Adams-Oliver syndrome 2" EXACT [MONDO:Lexical, OMIM:614219] synonym: "Adams-Oliver syndrome caused by mutation in DOCK6" EXACT [MONDO:design_pattern] -synonym: "Adams-Oliver syndrome type 2" EXACT [MONDORULE:1, OMIM:614219] -synonym: "AOS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614219] +synonym: "Adams-Oliver syndrome type 2" EXACT [MONDORULE:1] +synonym: "AOS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "DOCK6 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15775 {source="MONDO:GARD"} xref: MEDGEN:481812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -312944,8 +312999,8 @@ name: primary biliary cholangitis 4 subset: gard_rare {source="GARD:15776", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "biliary cirrhosis, primary, 4" RELATED [MONDO:Lexical, OMIM:614220] -synonym: "PBC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614220] +synonym: "biliary cirrhosis, primary, 4" RELATED [MONDO:Lexical] +synonym: "PBC4" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070361 {source="MONDO:equivalentTo"} xref: GARD:15776 {source="MONDO:GARD"} xref: MEDGEN:481831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -312960,8 +313015,8 @@ name: primary biliary cholangitis 5 subset: gard_rare {source="GARD:15777", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "biliary cirrhosis, primary, 5" RELATED [MONDO:Lexical, OMIM:614221] -synonym: "PBC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614221] +synonym: "biliary cirrhosis, primary, 5" RELATED [MONDO:Lexical] +synonym: "PBC5" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070362 {source="MONDO:equivalentTo"} xref: GARD:15777 {source="MONDO:GARD"} xref: MEDGEN:481832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -312980,10 +313035,10 @@ subset: rare synonym: "micro syndrome 3" EXACT [DOID:0110718, OMIM:614222] synonym: "RAB18 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WARBM3" EXACT ABBREVIATION [DOID:0110718, MONDO:Lexical, OMIM:614222] -synonym: "WARBURG micro syndrome 3" RELATED [OMIM:614222] -synonym: "Warburg micro syndrome 3" EXACT [MONDO:Lexical, OMIM:614222] +synonym: "WARBURG micro syndrome 3" RELATED [] +synonym: "Warburg micro syndrome 3" EXACT [DOID:0110718, MONDO:Lexical, OMIM:614222] synonym: "Warburg micro syndrome caused by mutation in RAB18" EXACT [MONDO:design_pattern] -synonym: "Warburg micro syndrome type 3" EXACT [DOID:0110718, MONDORULE:1, OMIM:614222] +synonym: "Warburg micro syndrome type 3" EXACT [MONDORULE:1] xref: DOID:0110718 {source="MONDO:equivalentTo"} xref: GARD:15778 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="DOID:0110718"} @@ -313001,7 +313056,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013639 name: narcolepsy 6, susceptibility to subset: predisposition -synonym: "narcolepsy 6" RELATED [OMIM:614223, OMIM:genemap2] +synonym: "narcolepsy 6" RELATED [] synonym: "narcolepsy 6, susceptibility to" EXACT [OMIM:614223] synonym: "NRCLP6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614223] xref: MEDGEN:481834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313023,10 +313078,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:284247"} subset: orphanet_rare {source="Orphanet:284247"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fram" EXACT [Orphanet:284247] -synonym: "RAMSVPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614224] +synonym: "FRAM" EXACT ABBREVIATION [Orphanet:284247] +synonym: "Fram" EXACT [] +synonym: "RAMSVPS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "retinal arterial macroaneurysm and supravalvular pulmonic stenosis" EXACT [Orphanet:284247] -synonym: "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" RELATED [MONDO:Lexical, OMIM:614224] +synonym: "retinal arterial macroaneurysm with supravalvular pulmonic stenosis" RELATED [MONDO:Lexical] xref: GARD:12779 {source="MONDO:GARD"} xref: icd11.foundation:800928909 {source="MONDO:equivalentTo"} xref: MEDGEN:481835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313053,10 +313109,10 @@ subset: rare synonym: "micro syndrome 2" EXACT [DOID:0110717, OMIM:614225] synonym: "RAB3GAP2 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WARBM2" EXACT ABBREVIATION [DOID:0110717, MONDO:Lexical, OMIM:614225] -synonym: "WARBURG micro syndrome 2" RELATED [OMIM:614225] -synonym: "Warburg micro syndrome 2" EXACT [MONDO:Lexical, OMIM:614225] +synonym: "WARBURG micro syndrome 2" RELATED [] +synonym: "Warburg micro syndrome 2" EXACT [DOID:0110717, MONDO:Lexical, OMIM:614225] synonym: "Warburg micro syndrome caused by mutation in RAB3GAP2" EXACT [MONDO:design_pattern] -synonym: "Warburg micro syndrome type 2" EXACT [DOID:0110717, MONDORULE:1, OMIM:614225] +synonym: "Warburg micro syndrome type 2" EXACT [MONDORULE:1] xref: DOID:0110717 {source="MONDO:equivalentTo"} xref: GARD:15780 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="DOID:0110717"} @@ -313078,9 +313134,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CDON holoprosencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "holoprosencephaly 11" EXACT [MONDO:Lexical, OMIM:614226] +synonym: "holoprosencephaly 11" EXACT [DOID:0110877, MONDO:Lexical, OMIM:614226] synonym: "holoprosencephaly caused by mutation in CDON" EXACT [MONDO:design_pattern] -synonym: "holoprosencephaly type 11" EXACT [DOID:0110877, MONDORULE:2, OMIM:614226] +synonym: "holoprosencephaly type 11" EXACT [MONDORULE:2] synonym: "HPE11" EXACT ABBREVIATION [DOID:0110877, MONDO:Lexical, OMIM:614226] xref: DOID:0110877 {source="MONDO:equivalentTo"} xref: MEDGEN:481845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313096,7 +313152,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013643 name: hyperuricemic nephropathy, familial juvenile type 3 synonym: "HNFJ3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614227] -synonym: "hyperuricemic nephropathy, familial juvenile, 3" RELATED [MONDO:Lexical, OMIM:614227] +synonym: "hyperuricemic nephropathy, familial juvenile, 3" RELATED [MONDO:Lexical] xref: MEDGEN:481846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614227 {source="MONDO:equivalentTo"} xref: UMLS:C3280216 {source="MEDGEN:481846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313114,14 +313170,14 @@ subset: orphanet_rare {source="Orphanet:284232"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175, Orphanet:284232] synonym: "Charcot-Marie-Tooth disease caused by mutation in DYNC1H1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2O" RELATED [GARD:0012434] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O" RELATED [OMIM:614228] -synonym: "Charcot-Marie-Tooth disease, axonal, type 20" EXACT [OMIM:614228, OMIM:genemap2] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2O" RELATED [MONDO:Lexical, OMIM:614228] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 20" EXACT [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2O" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy axonal type 2O" EXACT [DOID:0110175] -synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2O" RELATED [OMIM:614228] +synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2O" RELATED [] synonym: "CMT2O" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614228, Orphanet:284232] synonym: "DYNC1H1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110175 {source="MONDO:equivalentTo"} @@ -313149,13 +313205,13 @@ subset: ordo_disorder {source="Orphanet:284271"} subset: orphanet_rare {source="Orphanet:284271"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive cerebellar ataxia-psychomotor retardation syndrome" RELATED [Orphanet:284271] -synonym: "autosomal recessive spinocerebellar ataxia 11" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive spinocerebellar ataxia type 11" EXACT [DOID:0080063, MONDORULE:2, Orphanet:284271] +synonym: "autosomal recessive cerebellar ataxia-psychomotor retardation syndrome" RELATED [] +synonym: "autosomal recessive spinocerebellar ataxia 11" EXACT CLINGEN_LABEL [DOID:0080063] +synonym: "autosomal recessive spinocerebellar ataxia type 11" EXACT [MONDORULE:2, Orphanet:284271] synonym: "autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14" EXACT [MONDO:design_pattern] -synonym: "SCAR11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614229, Orphanet:284271] -synonym: "spinocerebellar ataxia, autosomal recessive 11" RELATED [MONDO:Lexical, OMIM:614229] -synonym: "spinocerebellar ataxia, autosomal recessive type 11" EXACT [MONDORULE:2, OMIM:614229] +synonym: "SCAR11" EXACT ABBREVIATION [DOID:0080063, MONDO:Lexical, OMIM:614229, Orphanet:284271] +synonym: "spinocerebellar ataxia, autosomal recessive 11" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 11" EXACT [MONDORULE:2] synonym: "SYT14 autosomal recessive syndromic cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080063 {source="MONDO:equivalentTo"} xref: GARD:17312 {source="MONDO:GARD"} @@ -313180,9 +313236,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:284160"} subset: orphanet_rare {source="Orphanet:284160"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "8q21.11 microdeletion syndrome" EXACT [DECIPHER:86, DOID:0060425] -synonym: "chromosome 8q21.11 deletion syndrome" EXACT [OMIM:614230] -synonym: "chromosome 8q21.11 deletion syndrome, isolated cases" EXACT [OMIM:614230, OMIM:genemap2] +synonym: "8q21.11 microdeletion syndrome" EXACT [DECIPHER:86, DOID:0060425, Orphanet:284160] +synonym: "chromosome 8q21.11 deletion syndrome" EXACT [DOID:0060425, OMIM:614230] +synonym: "chromosome 8q21.11 deletion syndrome, isolated cases" EXACT [] synonym: "Del(8)(q21.11)" EXACT [Orphanet:284160] synonym: "deletion 8q21.11" EXACT [Orphanet:284160] synonym: "monosomy 8q21.11" EXACT [Orphanet:284160] @@ -313224,9 +313280,9 @@ subset: ordo_disorder {source="Orphanet:79146"} subset: orphanet_rare {source="Orphanet:79146"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fph" RELATED [OMIM:614233] -synonym: "FPH1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614233] -synonym: "hyperpigmentation, familial progressive, 1" RELATED [MONDO:Lexical, OMIM:614233] +synonym: "Fph" RELATED [] +synonym: "FPH1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperpigmentation, familial progressive, 1" RELATED [MONDO:Lexical] synonym: "melanosis diffusa congenita" EXACT [Orphanet:79146] synonym: "melanosis universalis hereditaria" EXACT [Orphanet:79146] synonym: "universal melanosis" EXACT [Orphanet:79146] @@ -313245,10 +313301,10 @@ def: "A hypotrichosis that has material basis in an autosomal recessive mutation subset: gard_rare {source="GARD:15781", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hypotrichosis 9" EXACT [MONDO:Lexical, OMIM:614237] -synonym: "hypotrichosis type 9" EXACT [DOID:0110706, MONDORULE:1] -synonym: "HYPT9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614237] -synonym: "hypt9" EXACT [DOID:0110706] +synonym: "hypotrichosis 9" EXACT [DOID:0110706, MONDO:Lexical, OMIM:614237] +synonym: "hypotrichosis type 9" EXACT [MONDORULE:1] +synonym: "HYPT9" EXACT ABBREVIATION [DOID:0110706, OMIM:614237] +synonym: "hypt9" EXACT [] xref: DOID:0110706 {source="MONDO:equivalentTo"} xref: GARD:15781 {source="MONDO:GARD"} xref: MEDGEN:481882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313265,10 +313321,10 @@ def: "A hypotrichosis that has material basis in an autosomal recessive mutation subset: gard_rare {source="GARD:15782", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hypotrichosis 10" EXACT [MONDO:Lexical, OMIM:614238] -synonym: "hypotrichosis type 10" EXACT [DOID:0110707, MONDORULE:2] -synonym: "HYPT10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614238] -synonym: "hypt10" EXACT [DOID:0110707] +synonym: "hypotrichosis 10" EXACT [DOID:0110707, MONDO:Lexical, OMIM:614238] +synonym: "hypotrichosis type 10" EXACT [MONDORULE:2] +synonym: "HYPT10" EXACT ABBREVIATION [DOID:0110707, OMIM:614238] +synonym: "hypt10" EXACT [] xref: DOID:0110707 {source="MONDO:equivalentTo"} xref: GARD:15782 {source="MONDO:GARD"} xref: MEDGEN:481883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313288,14 +313344,14 @@ subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MED23" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic intellectual disability-18" RELATED [GARD:0012233] synonym: "autosomal recessive nonsyndromic mental retardation-18" RELATED DEPRECATED [GARD:0012233] -synonym: "intellectual developmental disorder, autosomal recessive 18, with or without epilepsy" EXACT [OMIM:614249, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 18" EXACT [MONDO:Lexical, OMIM:614249] -synonym: "intellectual disability, autosomal recessive type 18" EXACT [MONDORULE:2, OMIM:614249] +synonym: "intellectual developmental disorder, autosomal recessive 18, with or without epilepsy" EXACT [OMIM:614249] +synonym: "intellectual disability, autosomal recessive 18" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 18" EXACT [MONDORULE:2] synonym: "MED23" RELATED ABBREVIATION [GARD:0012233] synonym: "MED23 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mental retardation, autosomal recessive 18" RELATED DEPRECATED [MONDO:Lexical, OMIM:614249] -synonym: "mental retardation, autosomal recessive type 18" EXACT DEPRECATED [MONDORULE:2, OMIM:614249] -synonym: "MRT18" RELATED DEPRECATED [MONDO:Lexical, OMIM:614249] +synonym: "mental retardation, autosomal recessive 18" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 18" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT18" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081190 {source="MONDO:equivalentTo"} xref: GARD:22552 {source="MONDO:GARD"} xref: MEDGEN:481895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313317,8 +313373,8 @@ subset: rare synonym: "MOG narcolepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "narcolepsy 7" EXACT [MONDO:Lexical, OMIM:614250] synonym: "narcolepsy caused by mutation in MOG" EXACT [MONDO:design_pattern] -synonym: "narcolepsy type 7" EXACT [MONDORULE:1, OMIM:614250] -synonym: "NRCLP7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614250] +synonym: "narcolepsy type 7" EXACT [MONDORULE:1] +synonym: "NRCLP7" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15783 {source="MONDO:GARD"} xref: MEDGEN:481896 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614250 {source="MONDO:equivalentTo"} @@ -313337,10 +313393,10 @@ def: "Any hereditary late onset Parkinson disease in which the cause of the dise subset: predisposition synonym: "EIF4G1 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary late onset Parkinson disease caused by mutation in EIF4G1" EXACT [MONDO:design_pattern] -synonym: "PARK18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614251] -synonym: "Parkinson disease 18" EXACT [OMIM:614251, OMIM:genemap2] +synonym: "PARK18" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Parkinson disease 18" EXACT [] synonym: "Parkinson disease 18, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:614251] -synonym: "susceptibility to autosomal dominant Parkinson disease 18" RELATED [OMIM:614251] +synonym: "susceptibility to autosomal dominant Parkinson disease 18" RELATED [] xref: MEDGEN:481901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614251 {source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="OMIM:614251"} @@ -313359,7 +313415,7 @@ name: aneurysm, intracranial berry, 11 subset: gard_rare {source="GARD:18329", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, intracranial BERRY, 11" RELATED [MONDO:Lexical, OMIM:614252] +synonym: "aneurysm, intracranial BERRY, 11" RELATED [MONDO:Lexical] synonym: "ANIB11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614252] xref: DOID:0080974 {source="MONDO:equivalentTo"} xref: GARD:18329 {source="MONDO:GARD"} @@ -313376,20 +313432,20 @@ def: "Any autosomal dominant non-syndromic intellectual disability in which the subset: gard_rare {source="GARD:13686", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 8" EXACT [DOID:0070038] +synonym: "autosomal dominant intellectual disability 8" EXACT [] synonym: "autosomal dominant mental retardation 8" EXACT DEPRECATED [DOID:0070038] -synonym: "autosomal dominant non-syndromic intellectual disability 8" RELATED [DOID:0070038] +synonym: "autosomal dominant non-syndromic intellectual disability 8" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1" EXACT [MONDO:design_pattern] synonym: "GRIN1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal dominant 8" EXACT [MONDO:Lexical, OMIM:614254] -synonym: "intellectual disability, autosomal dominant 8, formerly" RELATED [OMIM:614254] -synonym: "intellectual disability, autosomal dominant type 8" EXACT [MONDORULE:1, OMIM:614254] -synonym: "mental retardation, autosomal dominant 8" RELATED DEPRECATED [MONDO:Lexical, OMIM:614254] -synonym: "mental retardation, autosomal dominant 8, formerly" RELATED DEPRECATED [OMIM:614254] -synonym: "mental retardation, autosomal dominant type 8" EXACT DEPRECATED [MONDORULE:1, OMIM:614254] -synonym: "MRD8" EXACT ABBREVIATION [DOID:0070038, MONDO:Lexical, OMIM:614254] -synonym: "NDHMSD" RELATED ABBREVIATION [OMIM:614254] -synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" RELATED [OMIM:614254] +synonym: "intellectual disability, autosomal dominant 8" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant 8, formerly" RELATED [] +synonym: "intellectual disability, autosomal dominant type 8" EXACT [MONDORULE:1] +synonym: "mental retardation, autosomal dominant 8" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant 8, formerly" RELATED DEPRECATED [] +synonym: "mental retardation, autosomal dominant type 8" EXACT DEPRECATED [MONDORULE:1] +synonym: "MRD8" EXACT ABBREVIATION [DOID:0070038, MONDO:Lexical] +synonym: "NDHMSD" RELATED ABBREVIATION [] +synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" RELATED [] xref: DOID:0070038 {source="MONDO:equivalentTo"} xref: GARD:13686 {source="MONDO:GARD"} xref: MEDGEN:481912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313413,15 +313469,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant intellectual disability 9" EXACT [DOID:0070039] synonym: "autosomal dominant mental retardation 9" EXACT DEPRECATED [DOID:0070039] -synonym: "autosomal dominant non-syndromic intellectual disability 9" RELATED [DOID:0070039] +synonym: "autosomal dominant non-syndromic intellectual disability 9" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal dominant 9" EXACT [MONDO:Lexical, OMIM:614255] -synonym: "intellectual disability, autosomal dominant type 9" EXACT [MONDORULE:1, OMIM:614255] +synonym: "intellectual disability, autosomal dominant 9" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 9" EXACT [MONDORULE:1] synonym: "KIF1A autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mental retardation, autosomal dominant 9" RELATED DEPRECATED [MONDO:Lexical, OMIM:614255] -synonym: "mental retardation, autosomal dominant type 9" EXACT DEPRECATED [MONDORULE:1, OMIM:614255] -synonym: "MRD9" EXACT ABBREVIATION [DOID:0070039, MONDO:Lexical, OMIM:614255] -synonym: "NESCAV syndrome" EXACT [OMIM:614255, OMIM:genemap2] +synonym: "mental retardation, autosomal dominant 9" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 9" EXACT DEPRECATED [MONDORULE:1] +synonym: "MRD9" EXACT ABBREVIATION [DOID:0070039, MONDO:Lexical, NCIT:C133742] +synonym: "NESCAV syndrome" EXACT [DOID:0070039, NCIT:C133742, OMIM:614255, Orphanet:662367] xref: DOID:0070039 {source="MONDO:equivalentTo"} xref: GARD:16459 {source="MONDO:GARD"} xref: MEDGEN:1714250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313444,15 +313500,15 @@ name: intellectual disability, autosomal dominant 10 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16460", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant intellectual disability 10" EXACT [DOID:0070040] +synonym: "autosomal dominant intellectual disability 10" EXACT [] synonym: "autosomal dominant mental retardation 10" EXACT DEPRECATED [DOID:0070040] -synonym: "autosomal dominant non-syndromic intellectual disability 10" RELATED [DOID:0070040] +synonym: "autosomal dominant non-syndromic intellectual disability 10" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2" EXACT [MONDO:design_pattern] synonym: "CACNG2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal dominant 10" EXACT [MONDO:Lexical, OMIM:614256] -synonym: "intellectual disability, autosomal dominant type 10" EXACT [MONDORULE:2, OMIM:614256] -synonym: "mental retardation, autosomal dominant 10" RELATED DEPRECATED [MONDO:Lexical, OMIM:614256] -synonym: "mental retardation, autosomal dominant type 10" EXACT DEPRECATED [MONDORULE:2, OMIM:614256] +synonym: "intellectual disability, autosomal dominant 10" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 10" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 10" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 10" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD10" EXACT ABBREVIATION [DOID:0070040, MONDO:Lexical, OMIM:614256] xref: DOID:0070040 {source="MONDO:equivalentTo"} xref: GARD:16460 {source="MONDO:GARD"} @@ -313471,17 +313527,17 @@ name: intellectual disability, autosomal dominant 11 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16461", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant intellectual disability 11" EXACT [DOID:0070041] +synonym: "autosomal dominant intellectual disability 11" EXACT [] synonym: "autosomal dominant mental retardation 11" EXACT DEPRECATED [DOID:0070041] -synonym: "autosomal dominant non-syndromic intellectual disability 11" RELATED [DOID:0070041] +synonym: "autosomal dominant non-syndromic intellectual disability 11" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1" EXACT [MONDO:design_pattern] synonym: "EPB41L1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, autosomal dominant 11" EXACT [OMIM:614257, OMIM:genemap2] -synonym: "intellectual disability, autosomal dominant 11" EXACT [MONDO:Lexical, OMIM:614257] -synonym: "intellectual disability, autosomal dominant type 11" EXACT [MONDORULE:2, OMIM:614257] -synonym: "mental retardation, autosomal dominant 11" RELATED DEPRECATED [MONDO:Lexical, OMIM:614257] -synonym: "mental retardation, autosomal dominant type 11" EXACT DEPRECATED [MONDORULE:2, OMIM:614257] -synonym: "MRD11" EXACT ABBREVIATION [DOID:0070041, MONDO:Lexical, OMIM:614257] +synonym: "intellectual developmental disorder, autosomal dominant 11" EXACT [] +synonym: "intellectual disability, autosomal dominant 11" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 11" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 11" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 11" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD11" EXACT ABBREVIATION [DOID:0070041, MONDO:Lexical] xref: DOID:0070041 {source="MONDO:equivalentTo"} xref: GARD:16461 {source="MONDO:GARD"} xref: MEDGEN:481915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313506,8 +313562,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MIC-CAP syndrome" EXACT [Orphanet:294016] synonym: "MIC-CM syndrome" EXACT [Orphanet:294016] -synonym: "MICCAP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614261] -synonym: "microcephaly-capillary malformation syndrome" EXACT [MONDO:Lexical, OMIM:614261] +synonym: "MICCAP" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microcephaly-capillary malformation syndrome" EXACT [MONDO:Lexical, OMIM:614261, Orphanet:294016] synonym: "microcephaly-cutaneous capillary malformation syndrome" EXACT [Orphanet:294016] xref: GARD:17354 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:294016/attributed", source="Orphanet:294016/ntbt", source="Orphanet:294016"} @@ -313526,7 +313582,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013660 name: arthrogryposis, Perthes disease, and upward gaze palsy subset: otar {source="MONDO:OTAR"} -synonym: "APUG" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614262] +synonym: "APUG" RELATED ABBREVIATION [MONDO:Lexical] synonym: "arthrogryposis, Perthes disease, and upward gaze palsy" EXACT [MONDO:Lexical, OMIM:614262] xref: MEDGEN:481939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614262 {source="MONDO:equivalentTo"} @@ -313545,9 +313601,9 @@ subset: ordo_disorder {source="Orphanet:289504"} subset: orphanet_rare {source="Orphanet:289504"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CMAMMA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614265, Orphanet:289504] -synonym: "combined malonic and methylmalonic acidemia" EXACT CLINGEN_LABEL [] -synonym: "combined malonic and methylmalonic aciduria" EXACT [MONDO:Lexical, OMIM:614265, Orphanet:289504] +synonym: "CMAMMA" EXACT ABBREVIATION [DOID:0111263, MONDO:Lexical, OMIM:614265, Orphanet:289504] +synonym: "combined malonic and methylmalonic acidemia" EXACT CLINGEN_LABEL [DOID:0111263, Orphanet:289504] +synonym: "combined malonic and methylmalonic aciduria" EXACT [DOID:0111263, MONDO:Lexical, OMIM:614265, Orphanet:289504] xref: DOID:0111263 {source="MONDO:equivalentTo"} xref: GARD:10818 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:289504", source="Orphanet:289504/attributed", source="Orphanet:289504/ntbt"} @@ -313567,21 +313623,22 @@ id: MONDO:0013662 name: Barrett esophagus def: "Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)" [NCIT:C2891] subset: otar {source="MONDO:OTAR"} -synonym: "adenocarcinoma of esophagus" RELATED [OMIM:614266] +synonym: "adenocarcinoma of esophagus" RELATED [] synonym: "adenocarcinoma of oesophagus" RELATED OMO:0003005 [] synonym: "Barrett esophagus" EXACT [DOID:9206, MTH:NOCODE, NCIT:C2891, OMIM:614266] -synonym: "Barrett esophagus/esophageal adenocarcinoma" EXACT [OMIM:614266, OMIM:genemap2] -synonym: "Barrett metaplasia" RELATED [OMIM:614266] +synonym: "Barrett esophagus/esophageal adenocarcinoma" EXACT [] +synonym: "Barrett metaplasia" RELATED [] synonym: "Barrett's esophagus" EXACT [DOID:9206, NCIT:C2891] synonym: "Barrett's esophagus with esophagitis" EXACT [DOID:9206] -synonym: "Barrett's oesophagus" EXACT OMO:0003005 [] +synonym: "Barrett's oesophagus" EXACT OMO:0003005 [DOID:9206] synonym: "Barrett's oesophagus with esophagitis" EXACT OMO:0003005 [] synonym: "Barrett's ulcer of esophagus" EXACT [DOID:9206] synonym: "Barrett's ulcer of oesophagus" EXACT OMO:0003005 [] synonym: "Barretts syndrome" EXACT [DOID:9206] synonym: "BE" EXACT ABBREVIATION [NCIT:C2891] -synonym: "cello" EXACT [NCIT:C2891] -synonym: "CLE" EXACT ABBREVIATION [DOID:9206, NCIT:C2891] +synonym: "CELLO" EXACT ABBREVIATION [NCIT:C2891] +synonym: "cello" EXACT [] +synonym: "CLE" EXACT ABBREVIATION [NCIT:C2891] synonym: "columnar epithelial-lined Lower esophagus" EXACT [NCIT:C2891] synonym: "columnar epithelial-lined Lower oesophagus" EXACT OMO:0003005 [] synonym: "columnar-lined esophagus" EXACT [NCIT:C2891] @@ -313612,7 +313669,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013663 name: platelet-activating factor acetylhydrolase deficiency -synonym: "PAFAD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614278] +synonym: "PAFAD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "platelet-activating factor acetylhydrolase deficiency" EXACT [MONDO:ambiguous, MONDO:Lexical, OMIM:614278] synonym: "platelet-activating factor acetylhydrolase deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0040175 {source="MONDO:otherHierarchy"} @@ -313633,12 +313690,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:443087"} subset: orphanet_rare {source="Orphanet:443087"} subset: rare -synonym: "46,XY sex reversal 8" RELATED [MONDO:Lexical, OMIM:614279] -synonym: "46,XY sex reversal type 8" EXACT [MONDORULE:1, OMIM:614279] -synonym: "46XY sex reversal 8" EXACT [OMIM:614279, OMIM:genemap2] -synonym: "46XY sex reversal 8, modifier of" EXACT [OMIM:614279, OMIM:genemap2] -synonym: "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" RELATED [OMIM:614279] -synonym: "SRXY8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614279] +synonym: "46,XY sex reversal 8" RELATED [MONDO:Lexical] +synonym: "46,XY sex reversal type 8" EXACT [MONDORULE:1] +synonym: "46XY sex reversal 8" EXACT [] +synonym: "46XY sex reversal 8, modifier of" EXACT [] +synonym: "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" RELATED [] +synonym: "SRXY8" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111773 {source="MONDO:equivalentTo"} xref: GARD:17752 {source="MONDO:GARD"} xref: ICD10CM:E29.1 {source="Orphanet:443087/attributed", source="Orphanet:443087/ntbt", source="Orphanet:443087"} @@ -313658,7 +313715,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013665 name: epilepsy, juvenile myoclonic, susceptibility to, 9 subset: predisposition -synonym: "EJM9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614280] +synonym: "EJM9" EXACT ABBREVIATION [DOID:0111328, MONDO:Lexical, OMIM:614280] synonym: "epilepsy, juvenile myoclonic, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:614280] xref: DOID:0111328 {source="MONDO:equivalentTo"} xref: MEDGEN:481962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313678,8 +313735,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive Stickler syndrome caused by mutation in COL9A2" EXACT [MONDO:design_pattern] synonym: "COL9A2 autosomal recessive Stickler syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "STICKLER syndrome, type V" RELATED [MONDO:Lexical, OMIM:614284] -synonym: "STL5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614284] +synonym: "STICKLER syndrome, type V" RELATED [MONDO:Lexical] +synonym: "STL5" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18359 {source="MONDO:GARD"} xref: MEDGEN:481972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614284 {source="MONDO:equivalentTo"} @@ -313708,11 +313765,11 @@ subset: orphanet_rare {source="Orphanet:3307"} subset: rare synonym: "chromosome 18p tetrasomy" RELATED [GARD:0000035] synonym: "Isochromosome 18p" EXACT [GARD:0000035, Orphanet:3307] -synonym: "Isochromosome 18P syndrome" RELATED [OMIM:614290] -synonym: "tetrasomy 18p" EXACT [GARD:0000035, OMIM:614290] +synonym: "Isochromosome 18P syndrome" RELATED [] +synonym: "tetrasomy 18p" EXACT [GARD:0000035, icd11.foundation:1182006735, OMIM:614290, Orphanet:3307] synonym: "tetrasomy chromosome 18p" RELATED [GARD:0000035] -synonym: "tetrasomy type 18P" EXACT [MONDORULE:4, OMIM:614290] -synonym: "tetrasomy type 18p" EXACT [MONDORULE:4, Orphanet:3307] +synonym: "tetrasomy type 18P" EXACT [MONDORULE:4] +synonym: "tetrasomy type 18p" EXACT [MONDORULE:4] xref: GARD:35 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:3307", source="Orphanet:3307/attributed", source="Orphanet:3307/ntbt"} xref: icd11.foundation:1182006735 {source="MONDO:equivalentTo"} @@ -313734,11 +313791,11 @@ name: breast-ovarian cancer, familial, susceptibility to, 4 def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "breast-ovarian cancer, familial, susceptibility to, 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614291] -synonym: "breast-ovarian cancer, familial, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614291] -synonym: "BROVCA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614291] +synonym: "breast-ovarian cancer, familial, susceptibility to, type 4" EXACT [MONDORULE:1] +synonym: "BROVCA4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hereditary breast ovarian cancer syndrome caused by mutation in RAD51D" EXACT [MONDO:design_pattern] synonym: "RAD51D hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to familial breast-ovarian cancer 4" RELATED [OMIM:614291] +synonym: "susceptibility to familial breast-ovarian cancer 4" RELATED [] xref: MEDGEN:481975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614291 {source="MONDO:equivalentTo"} xref: Orphanet:145 {source="OMIM:614291"} @@ -313756,7 +313813,7 @@ name: myopia, high, with cataract and vitreoretinal degeneration subset: gard_rare {source="GARD:18197", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCVD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614292] +synonym: "MCVD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "myopia, high, with cataract and vitreoretinal degeneration" EXACT [MONDO:Lexical, OMIM:614292] xref: GARD:18197 {source="MONDO:GARD"} xref: MEDGEN:481976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313773,11 +313830,11 @@ def: "Any complete hydatidiform mole in which the cause of the disease is a muta subset: gard_rare {source="GARD:18366", source="MONDO:GARD"} subset: rare synonym: "complete hydatidiform mole caused by mutation in KHDC3L" EXACT [MONDO:design_pattern] -synonym: "hydatidiform Mole, complete" RELATED [OMIM:614293] -synonym: "hydatidiform MOLE, recurrent, 2" RELATED [OMIM:614293] +synonym: "hydatidiform Mole, complete" RELATED [] +synonym: "hydatidiform MOLE, recurrent, 2" RELATED [] synonym: "hydatidiform mole, recurrent, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614293] -synonym: "hydatidiform Mole, recurrent, type 2" EXACT [MONDORULE:1, OMIM:614293] -synonym: "HYDM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614293] +synonym: "hydatidiform Mole, recurrent, type 2" EXACT [MONDORULE:1] +synonym: "HYDM2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "KHDC3L complete hydatidiform mole" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18366 {source="MONDO:GARD"} xref: MEDGEN:481982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313798,7 +313855,7 @@ name: chromosome 15q25 deletion syndrome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "chromosome 15q25 deletion syndrome" EXACT [OMIM:614294] +synonym: "chromosome 15q25 deletion syndrome" EXACT [DOID:0060396, OMIM:614294] xref: DOID:0060396 {source="MONDO:equivalentTo"} xref: MEDGEN:481985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614294 {source="DOID:0060396", source="MONDO:equivalentTo"} @@ -313819,10 +313876,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:411590"} subset: orphanet_rare {source="Orphanet:411590"} subset: rare -synonym: "hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation" RELATED [OMIM:614296] -synonym: "WFSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614296] -synonym: "Wolfram-like syndrome" EXACT CLINGEN_LABEL [] -synonym: "Wolfram-like syndrome, autosomal dominant" RELATED [MONDO:Lexical, OMIM:614296] +synonym: "hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation" RELATED [] +synonym: "WFSL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Wolfram-like syndrome" EXACT CLINGEN_LABEL [Orphanet:411590] +synonym: "Wolfram-like syndrome, autosomal dominant" RELATED [MONDO:Lexical] xref: DOID:0080584 {source="MONDO:equivalentTo"} xref: GARD:17683 {source="MONDO:GARD"} xref: ICD10CM:E13.8 {source="Orphanet:411590/attributed", source="Orphanet:411590/ntbt", source="Orphanet:411590"} @@ -313848,15 +313905,15 @@ subset: orphanet_rare {source="Orphanet:289560"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "C19orf12 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mitochondrial membrane protein-associated neurodegeneration" RELATED [Orphanet:289560] +synonym: "mitochondrial membrane protein-associated neurodegeneration" RELATED [] synonym: "mitochondrial Protein-associated neurodegeneration" EXACT [DOID:0110738, OMIM:614298] synonym: "MPAN" EXACT ABBREVIATION [DOID:0110738, Orphanet:289560] synonym: "NBIA due to C19orf12 mutation" EXACT [DOID:0110738, Orphanet:289560] -synonym: "NBIA4" EXACT ABBREVIATION [DOID:0110738, MONDO:Lexical, OMIM:614298, Orphanet:289560] -synonym: "neurodegeneration with brain iron accumulation 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614298] +synonym: "NBIA4" EXACT ABBREVIATION [DOID:0110738, MONDO:Lexical, NCIT:C175707, OMIM:614298, Orphanet:289560] +synonym: "neurodegeneration with brain iron accumulation 4" EXACT CLINGEN_LABEL [DOID:0110738, MONDO:Lexical, NCIT:C175707, OMIM:614298] synonym: "neurodegeneration with brain iron accumulation caused by mutation in C19orf12" EXACT [MONDO:design_pattern] synonym: "neurodegeneration with brain iron accumulation due to C19orf12 mutation" EXACT [DOID:0110738, Orphanet:289560] -synonym: "neurodegeneration with brain iron accumulation type 4" EXACT [DOID:0110738, MONDORULE:1, OMIM:614298, Orphanet:289560] +synonym: "neurodegeneration with brain iron accumulation type 4" EXACT [DOID:0110738, MONDORULE:1, Orphanet:289560] xref: DOID:0110738 {source="MONDO:equivalentTo"} xref: GARD:12569 {source="MONDO:GARD"} xref: ICD10CM:G23.0 {source="DOID:0110738", source="Orphanet:289560/attributed", source="Orphanet:289560/ntbt", source="Orphanet:289560"} @@ -313883,13 +313940,13 @@ subset: ordo_disorder {source="Orphanet:401874"} subset: orphanet_rare {source="Orphanet:401874"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BOLA3 deficiency" EXACT [Orphanet:401874] +synonym: "BOLA3 deficiency" EXACT [DOID:0080134, Orphanet:401874] synonym: "BOLA3 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3" EXACT [MONDO:design_pattern] -synonym: "MMDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614299] -synonym: "multiple mitochondrial dysfunctions syndrome 2" EXACT [MONDO:Lexical, OMIM:614299] -synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" RELATED [OMIM:614299] -synonym: "multiple mitochondrial dysfunctions syndrome type 2" EXACT [DOID:0080134, MONDORULE:1, OMIM:614299] +synonym: "MMDS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "multiple mitochondrial dysfunctions syndrome 2" EXACT [DOID:0080134, MONDO:Lexical] +synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" RELATED [] +synonym: "multiple mitochondrial dysfunctions syndrome type 2" EXACT [MONDORULE:1, Orphanet:401874] xref: DOID:0080134 {source="MONDO:equivalentTo"} xref: GARD:17662 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:401874/attributed", source="Orphanet:401874/ntbt", source="Orphanet:401874"} @@ -313919,10 +313976,10 @@ subset: gard_rare {source="GARD:18208", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43" EXACT [MONDO:design_pattern] -synonym: "EDMD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614302] -synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:614302, OMIM:genemap2] -synonym: "EMERY-Dreifuss muscular dystrophy 7, autosomal dominant" RELATED [OMIM:614302] -synonym: "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614302] +synonym: "EDMD7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [] +synonym: "EMERY-Dreifuss muscular dystrophy 7, autosomal dominant" RELATED [] +synonym: "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" EXACT [DOID:0070252, MONDO:Lexical, OMIM:614302] synonym: "TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070252 {source="MONDO:equivalentTo"} xref: GARD:18208 {source="MONDO:GARD"} @@ -313949,13 +314006,13 @@ subset: orphanet_rare {source="Orphanet:293936"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant keratoconus with early-onset anterior polar cataracts" EXACT [Orphanet:293936] -synonym: "EDICT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614303] -synonym: "EDICT syndrome" EXACT [MONDO:Lexical, OMIM:614303] -synonym: "endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome" RELATED [OMIM:614303] +synonym: "EDICT" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "EDICT syndrome" EXACT [MONDO:Lexical, OMIM:614303, Orphanet:293936] +synonym: "endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome" RELATED [] synonym: "endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome" EXACT [Orphanet:293936] synonym: "familial keratoconus with cataract" EXACT [Orphanet:293936] -synonym: "keratoconus with cataract" RELATED [OMIM:614303] -synonym: "keratoconus, familial, with early-onset anterior polar cataract" RELATED [OMIM:614303] +synonym: "keratoconus with cataract" RELATED [] +synonym: "keratoconus, familial, with early-onset anterior polar cataract" RELATED [] synonym: "KTCNCT" EXACT ABBREVIATION [Orphanet:293936] xref: GARD:17349 {source="MONDO:GARD"} xref: MEDGEN:482022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -313977,9 +314034,9 @@ subset: gard_rare {source="GARD:15786", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "LRP4 sclerosteosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "sclerosteosis 2" EXACT [MONDO:Lexical, OMIM:614305] +synonym: "sclerosteosis 2" EXACT [DOID:0060757, MONDO:Lexical, OMIM:614305] synonym: "sclerosteosis caused by mutation in LRP4" EXACT [MONDO:design_pattern] -synonym: "sclerosteosis type 2" EXACT [DOID:0060757, MONDORULE:1, OMIM:614305] +synonym: "sclerosteosis type 2" EXACT [MONDORULE:1] synonym: "SOST2" EXACT ABBREVIATION [DOID:0060757, MONDO:Lexical, OMIM:614305] xref: DOID:0060757 {source="MONDO:equivalentTo"} xref: GARD:15786 {source="MONDO:GARD"} @@ -313998,7 +314055,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013680 name: cognitive impairment with or without cerebellar ataxia subset: otar {source="MONDO:OTAR"} -synonym: "CIAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614306] +synonym: "CIAT" RELATED ABBREVIATION [MONDO:Lexical] synonym: "cognitive impairment with or without cerebellar ataxia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614306] xref: MEDGEN:482045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614306 {source="MONDO:equivalentTo"} @@ -314014,10 +314071,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15787", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alpha-methylacyl-CoA racemase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614307] +synonym: "alpha-methylacyl-CoA racemase deficiency" EXACT CLINGEN_LABEL [DOID:0060602, MONDO:Lexical, NCIT:C119677, OMIM:614307] synonym: "AMACR" EXACT ABBREVIATION [NCIT:C119677] synonym: "AMACR deficiency" EXACT [DOID:0060602, https://www.clinicalgenome.org/affiliation/40049/, OMIM:614307] -synonym: "AMACRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614307] +synonym: "AMACRD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0060602 {source="MONDO:equivalentTo"} xref: EFO:1001980 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:15787 {source="MONDO:GARD"} @@ -314088,9 +314145,9 @@ subset: rare synonym: "BRCA1 familial pancreatic carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial pancreatic carcinoma caused by mutation in BRCA1" EXACT [MONDO:design_pattern] synonym: "pancreatic cancer, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:614320] -synonym: "pancreatic cancer, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614320] -synonym: "PNCA4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614320] -synonym: "susceptibility to pancreatic cancer 4" RELATED [OMIM:614320] +synonym: "pancreatic cancer, susceptibility to, type 4" EXACT [MONDORULE:1] +synonym: "PNCA4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to pancreatic cancer 4" RELATED [] xref: MEDGEN:482072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614320 {source="MONDO:equivalentTo"} xref: Orphanet:1333 {source="OMIM:614320"} @@ -314111,8 +314168,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:488650"} subset: orphanet_rare {source="Orphanet:488650"} subset: rare -synonym: "MPDT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614321] -synonym: "myopathy, distal, Tateyama type" RELATED [MONDO:Lexical, OMIM:614321] +synonym: "MPDT" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myopathy, distal, Tateyama type" RELATED [MONDO:Lexical] xref: DOID:0111191 {source="MONDO:equivalentTo"} xref: GARD:17900 {source="MONDO:GARD"} xref: MEDGEN:482073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -314135,15 +314192,15 @@ subset: orphanet_rare {source="Orphanet:284282"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" EXACT [] -synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency" RELATED [Orphanet:284282] +synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency" RELATED [] synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive spinocerebellar ataxia 12" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive spinocerebellar ataxia type 12" EXACT [DOID:0080060, MONDORULE:2, Orphanet:284282] -synonym: "SCAR12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614322, Orphanet:284282] -synonym: "spinocerebellar ataxia with intellectual disability and epilepsy" RELATED [OMIM:614322] -synonym: "spinocerebellar ataxia with mental retardation and epilepsy" RELATED DEPRECATED [OMIM:614322] -synonym: "spinocerebellar ataxia, autosomal recessive 12" RELATED [MONDO:Lexical, OMIM:614322] -synonym: "spinocerebellar ataxia, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:614322] +synonym: "autosomal recessive spinocerebellar ataxia 12" EXACT CLINGEN_LABEL [DOID:0080060] +synonym: "autosomal recessive spinocerebellar ataxia type 12" EXACT [MONDORULE:2, Orphanet:284282] +synonym: "SCAR12" EXACT ABBREVIATION [DOID:0080060, MONDO:Lexical, OMIM:614322, Orphanet:284282] +synonym: "spinocerebellar ataxia with intellectual disability and epilepsy" RELATED [] +synonym: "spinocerebellar ataxia with mental retardation and epilepsy" RELATED DEPRECATED [] +synonym: "spinocerebellar ataxia, autosomal recessive 12" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 12" EXACT [MONDORULE:2] synonym: "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080060 {source="MONDO:equivalentTo"} @@ -314170,12 +314227,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Becker Nevus" EXACT [NCIT:C3924] synonym: "Becker's Nevus" EXACT [NCIT:C3924] -synonym: "hyperpigmentation, progressive cribriform and zosteriform" RELATED [OMIM:614323] +synonym: "hyperpigmentation, progressive cribriform and zosteriform" RELATED [] synonym: "linear and whorled hypermelanosis" RELATED [GARD:0011004] synonym: "linear papular ectodermal-mesodermal hamartoma" EXACT [NCIT:C3924] -synonym: "LWNH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614323] +synonym: "LWNH" RELATED ABBREVIATION [MONDO:Lexical] synonym: "melanosis Neviformis" EXACT [NCIT:C3924] -synonym: "nevoid hypermelanosis, linear and whorled" RELATED [GARD:0011004, MONDO:Lexical, OMIM:614323] +synonym: "nevoid hypermelanosis, linear and whorled" RELATED [GARD:0011004, MONDO:Lexical] synonym: "pigmented hairy Epidermal Nevus" EXACT [NCIT:C3924] synonym: "pigmented hairy Nevus of Becker" EXACT [NCIT:C3924] synonym: "progressive cribriform and zosteriform hyperpigmentation" EXACT [NCIT:C3924] @@ -314204,9 +314261,9 @@ subset: gard_rare {source="GARD:18041", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "46 XX gonadal dysgenesis caused by mutation in PSMC3IP" EXACT [MONDO:design_pattern] -synonym: "ODG3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614324] -synonym: "ovarian dysgenesis 3" EXACT [MONDO:Lexical, OMIM:614324] -synonym: "ovarian dysgenesis type 3" EXACT [MONDORULE:1, OMIM:614324] +synonym: "ODG3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ovarian dysgenesis 3" EXACT [DOID:0080495, MONDO:Lexical, OMIM:614324] +synonym: "ovarian dysgenesis type 3" EXACT [MONDORULE:1] synonym: "PSMC3IP 46 XX gonadal dysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080495 {source="MONDO:equivalentTo"} xref: GARD:18041 {source="MONDO:GARD"} @@ -314227,10 +314284,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "NRXN1 Pitt-Hopkins-like syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Pitt-Hopkins-like syndrome 2" EXACT [MONDO:Lexical, OMIM:614325] +synonym: "Pitt-Hopkins-like syndrome 2" EXACT [DOID:0111332, MONDO:Lexical, OMIM:614325] synonym: "Pitt-Hopkins-like syndrome caused by mutation in NRXN1" EXACT [MONDO:design_pattern] -synonym: "Pitt-Hopkins-like syndrome type 2" EXACT [MONDORULE:1, OMIM:614325] -synonym: "PTHSL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614325] +synonym: "Pitt-Hopkins-like syndrome type 2" EXACT [MONDORULE:1] +synonym: "PTHSL2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111332 {source="MONDO:equivalentTo"} xref: MEDGEN:482109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614325 {source="MONDO:equivalentTo"} @@ -314250,11 +314307,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:391646"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brachydactyly with short stature and microcephaly" RELATED [OMIM:614326] +synonym: "brachydactyly with short stature and microcephaly" RELATED [] synonym: "brachydactyly-short stature-microcephaly syndrome" EXACT [Orphanet:391646] synonym: "Brunner-Winter syndrome type 2" EXACT [Orphanet:391646] -synonym: "Feingold syndrome 2" RELATED [MONDO:Lexical, OMIM:614326] -synonym: "Feingold syndrome type 2" EXACT [MONDORULE:1, OMIM:614326] +synonym: "Feingold syndrome 2" RELATED [MONDO:Lexical] +synonym: "Feingold syndrome type 2" EXACT [MONDORULE:1, Orphanet:391646] synonym: "FGLDS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614326, Orphanet:391646] synonym: "FS2" EXACT ABBREVIATION [Orphanet:391646] synonym: "microcephaly-digital anomalies-normal intelligence syndrome type 2" EXACT [Orphanet:391646] @@ -314286,9 +314343,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BAP1 tumor predisposition syndrome" RELATED [GARD:0013219] synonym: "BAP1 tumour predisposition syndrome" RELATED OMO:0003005 [] -synonym: "BAP1-related tumor predisposition syndrome" EXACT CLINGEN_LABEL [] -synonym: "TPDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614327] -synonym: "tumor predisposition syndrome" RELATED [MONDO:Lexical, OMIM:614327] +synonym: "BAP1-related tumor predisposition syndrome" EXACT CLINGEN_LABEL [Orphanet:289539] +synonym: "TPDS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "tumor predisposition syndrome" RELATED [MONDO:Lexical] synonym: "tumor susceptibility linked to germline BAP1 mutations" EXACT [Orphanet:289539] synonym: "tumour predisposition syndrome" RELATED OMO:0003005 [] synonym: "tumour susceptibility linked to germline BAP1 mutations" EXACT OMO:0003005 [] @@ -314311,9 +314368,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADAM17 neonatal inflammatory skin and bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "inflammatory skin and bowel disease, neonatal, 1" EXACT [MONDO:Lexical, OMIM:614328] -synonym: "inflammatory skin and bowel disease, neonatal, type 1" EXACT [MONDORULE:1, OMIM:614328] +synonym: "inflammatory skin and bowel disease, neonatal, type 1" EXACT [MONDORULE:1] synonym: "neonatal inflammatory skin and bowel disease caused by mutation in ADAM17" EXACT [MONDO:design_pattern] -synonym: "NISBD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614328] +synonym: "NISBD1" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18429 {source="MONDO:GARD"} xref: MEDGEN:482131 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614328 {source="MONDO:equivalentTo"} @@ -314330,8 +314387,8 @@ name: intellectual disability, autosomal recessive 31 subset: gard_rare {source="GARD:22553", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 31" EXACT [MONDO:Lexical, OMIM:614329] -synonym: "mental retardation, autosomal recessive 31" RELATED DEPRECATED [MONDO:Lexical, OMIM:614329] +synonym: "intellectual disability, autosomal recessive 31" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 31" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRT31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614329] xref: DOID:0081191 {source="MONDO:equivalentTo"} xref: GARD:22553 {source="MONDO:GARD"} @@ -314347,10 +314404,10 @@ def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease subset: gard_rare {source="GARD:15789", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "colon cancer, hereditary nonpolyposis, type 6" RELATED [OMIM:614331] +synonym: "colon cancer, hereditary nonpolyposis, type 6" RELATED [] synonym: "colorectal cancer, hereditary nonpolyposis, type 6" EXACT [MONDO:Lexical, OMIM:614331] synonym: "hereditary nonpolyposis colon cancer caused by mutation in TGFBR2" EXACT [MONDO:design_pattern] -synonym: "HNPCC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614331] +synonym: "HNPCC6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TGFBR2 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070273 {source="MONDO:equivalentTo"} xref: GARD:15789 {source="MONDO:GARD"} @@ -314374,7 +314431,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chromosome 2P16.3 deletion syndrome" EXACT [OMIM:614332] -synonym: "schizophrenia, susceptibility to, 17" EXACT [OMIM:614332, OMIM:genemap2] +synonym: "schizophrenia, susceptibility to, 17" EXACT [] xref: MEDGEN:814824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614332 {source="MONDO:equivalentTo"} xref: UMLS:C3808494 {source="MEDGEN:814824", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -314393,8 +314450,8 @@ name: intellectual disability, autosomal recessive 29 subset: gard_rare {source="GARD:22554", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 29" EXACT [MONDO:Lexical, OMIM:614333] -synonym: "mental retardation, autosomal recessive 29" RELATED DEPRECATED [MONDO:Lexical, OMIM:614333] +synonym: "intellectual disability, autosomal recessive 29" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 29" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRT29" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614333] xref: DOID:0081192 {source="MONDO:equivalentTo"} xref: GARD:22554 {source="MONDO:GARD"} @@ -314410,7 +314467,7 @@ subset: gard_rare {source="GARD:15790", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arthrogryposis, distal, type 1B" EXACT [MONDO:Lexical, OMIM:614335] -synonym: "DA1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614335] +synonym: "DA1B" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111598 {source="MONDO:equivalentTo"} xref: GARD:15790 {source="MONDO:GARD"} xref: MEDGEN:482156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -314430,7 +314487,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "colorectal cancer, hereditary nonpolyposis, type 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614337] synonym: "hereditary nonpolyposis colon cancer caused by mutation in PMS2" EXACT [MONDO:design_pattern] -synonym: "HNPCC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614337] +synonym: "HNPCC4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PMS2 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070275 {source="MONDO:equivalentTo"} xref: GARD:15791 {source="MONDO:GARD"} @@ -314458,15 +314515,15 @@ subset: ordo_disorder {source="Orphanet:309031"} subset: orphanet_rare {source="Orphanet:309031"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "colipase, congenital absence of pancreatic" RELATED [OMIM:614338] -synonym: "lipase and colipase, congenital absence of pancreatic" RELATED [OMIM:614338] -synonym: "lipase and colipase, deficiency of" RELATED [OMIM:614338] -synonym: "lipase, congenital absence of pancreatic" RELATED [OMIM:614338] -synonym: "pancreatic colipase deficiency" RELATED [OMIM:614338] -synonym: "pancreatic lipase deficiency" RELATED [MONDO:Lexical, OMIM:614338] -synonym: "pancreatic triglyceride lipase deficiency" EXACT [Orphanet:309031] -synonym: "PL deficiency" RELATED [OMIM:614338] -synonym: "PNLIPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614338] +synonym: "colipase, congenital absence of pancreatic" RELATED [] +synonym: "lipase and colipase, congenital absence of pancreatic" RELATED [] +synonym: "lipase and colipase, deficiency of" RELATED [] +synonym: "lipase, congenital absence of pancreatic" RELATED [] +synonym: "pancreatic colipase deficiency" RELATED [] +synonym: "pancreatic lipase deficiency" RELATED [MONDO:Lexical] +synonym: "pancreatic triglyceride lipase deficiency" EXACT [icd11.foundation:349070670, Orphanet:309031] +synonym: "PL deficiency" RELATED [] +synonym: "PNLIPD" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17401 {source="MONDO:GARD"} xref: ICD10CM:K90.3 {source="Orphanet:309031/attributed", source="Orphanet:309031/ntbt", source="MONDO:relatedTo", source="Orphanet:309031"} xref: icd11.foundation:349070670 {source="MONDO:equivalentTo"} @@ -314510,13 +314567,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1" EXACT [MONDO:design_pattern] -synonym: "intellectual developmental disorder, autosomal recessive 27" EXACT [OMIM:614340, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 27" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614340] -synonym: "intellectual disability, autosomal recessive type 27" EXACT [MONDORULE:2, OMIM:614340] +synonym: "intellectual developmental disorder, autosomal recessive 27" EXACT [OMIM:614340] +synonym: "intellectual disability, autosomal recessive 27" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 27" EXACT [MONDORULE:2] synonym: "LINS1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mental retardation, autosomal recessive 27" RELATED DEPRECATED [MONDO:Lexical, OMIM:614340] -synonym: "mental retardation, autosomal recessive type 27" EXACT DEPRECATED [MONDORULE:2, OMIM:614340] -synonym: "MRT27" RELATED DEPRECATED [MONDO:Lexical, OMIM:614340] +synonym: "mental retardation, autosomal recessive 27" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 27" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT27" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081193 {source="MONDO:equivalentTo"} xref: GARD:22555 {source="MONDO:GARD"} xref: MEDGEN:482168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -314535,8 +314592,8 @@ name: intellectual disability, autosomal recessive 33 subset: gard_rare {source="GARD:22556", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 33" EXACT [MONDO:Lexical, OMIM:614341] -synonym: "mental retardation, autosomal recessive 33" RELATED DEPRECATED [MONDO:Lexical, OMIM:614341] +synonym: "intellectual disability, autosomal recessive 33" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 33" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRT33" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614341] xref: DOID:0081194 {source="MONDO:equivalentTo"} xref: GARD:22556 {source="MONDO:GARD"} @@ -314552,8 +314609,8 @@ name: intellectual disability, autosomal recessive 30 subset: gard_rare {source="GARD:22557", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 30" EXACT [MONDO:Lexical, OMIM:614342] -synonym: "mental retardation, autosomal recessive 30" RELATED DEPRECATED [MONDO:Lexical, OMIM:614342] +synonym: "intellectual disability, autosomal recessive 30" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 30" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRT30" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614342] xref: DOID:0081195 {source="MONDO:equivalentTo"} xref: GARD:22557 {source="MONDO:GARD"} @@ -314569,8 +314626,8 @@ name: intellectual disability, autosomal recessive 19 subset: gard_rare {source="GARD:22558", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 19" EXACT [MONDO:Lexical, OMIM:614343] -synonym: "mental retardation, autosomal recessive 19" RELATED DEPRECATED [MONDO:Lexical, OMIM:614343] +synonym: "intellectual disability, autosomal recessive 19" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 19" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRT19" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614343] xref: GARD:22558 {source="MONDO:GARD"} xref: MEDGEN:482171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -314585,8 +314642,8 @@ name: intellectual disability, autosomal recessive 23 subset: gard_rare {source="GARD:22559", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 23" EXACT [MONDO:Lexical, OMIM:614344] -synonym: "mental retardation, autosomal recessive 23" RELATED DEPRECATED [MONDO:Lexical, OMIM:614344] +synonym: "intellectual disability, autosomal recessive 23" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 23" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRT23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614344] xref: DOID:0081196 {source="MONDO:equivalentTo"} xref: GARD:22559 {source="MONDO:GARD"} @@ -314601,8 +314658,8 @@ name: intellectual disability, autosomal recessive 24 subset: gard_rare {source="GARD:22560", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 24" EXACT [MONDO:Lexical, OMIM:614345] -synonym: "mental retardation, autosomal recessive 24" RELATED DEPRECATED [MONDO:Lexical, OMIM:614345] +synonym: "intellectual disability, autosomal recessive 24" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 24" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRT24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614345] xref: DOID:0081197 {source="MONDO:equivalentTo"} xref: GARD:22560 {source="MONDO:GARD"} @@ -314617,8 +314674,8 @@ name: intellectual disability, autosomal recessive 25 subset: gard_rare {source="GARD:22561", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 25" EXACT [MONDO:Lexical, OMIM:614346] -synonym: "mental retardation, autosomal recessive 25" RELATED DEPRECATED [MONDO:Lexical, OMIM:614346] +synonym: "intellectual disability, autosomal recessive 25" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 25" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRT25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614346] xref: DOID:0081198 {source="MONDO:equivalentTo"} xref: GARD:22561 {source="MONDO:GARD"} @@ -314633,8 +314690,8 @@ name: intellectual disability, autosomal recessive 28 subset: gard_rare {source="GARD:22562", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 28" EXACT [MONDO:Lexical, OMIM:614347] -synonym: "mental retardation, autosomal recessive 28" RELATED DEPRECATED [MONDO:Lexical, OMIM:614347] +synonym: "intellectual disability, autosomal recessive 28" EXACT [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 28" RELATED DEPRECATED [MONDO:Lexical] synonym: "MRT28" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614347] xref: DOID:0081199 {source="MONDO:equivalentTo"} xref: GARD:22562 {source="MONDO:GARD"} @@ -314652,7 +314709,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "colorectal cancer, hereditary nonpolyposis, type 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614350] synonym: "hereditary nonpolyposis colon cancer caused by mutation in MSH6" EXACT [MONDO:design_pattern] -synonym: "HNPCC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614350] +synonym: "HNPCC5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MSH6 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070272 {source="MONDO:equivalentTo"} xref: GARD:15792 {source="MONDO:GARD"} @@ -314678,7 +314735,7 @@ subset: ordo_disorder {source="Orphanet:397744"} subset: orphanet_rare {source="Orphanet:397744"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "peripheral neuropathy, myopathy, hoarseness, and hearing loss" RELATED [MONDO:Lexical, OMIM:614369] +synonym: "peripheral neuropathy, myopathy, hoarseness, and hearing loss" RELATED [MONDO:Lexical] synonym: "peripheral neuropathy-myopathy-hoarseness-deafness syndrome" EXACT [Orphanet:397744] synonym: "PNMHH" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614369] xref: GARD:17639 {source="MONDO:GARD"} @@ -314700,14 +314757,14 @@ def: "Any hereditary pulmonary alveolar proteinosis in which the cause of the di subset: gard_rare {source="GARD:15793", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Csf2Rb deficiency" RELATED [OMIM:614370] +synonym: "Csf2Rb deficiency" RELATED [] synonym: "CSF2RB hereditary pulmonary alveolar proteinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB" EXACT [MONDO:design_pattern] -synonym: "Pap due to Csf2Rb deficiency" RELATED [OMIM:614370] -synonym: "pulmonary alveolar proteinosis 5" RELATED [OMIM:614370] -synonym: "SMDP5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614370] +synonym: "Pap due to Csf2Rb deficiency" RELATED [] +synonym: "pulmonary alveolar proteinosis 5" RELATED [] +synonym: "SMDP5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "surfactant metabolism dysfunction, pulmonary, 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614370] -synonym: "surfactant metabolism dysfunction, pulmonary, type 5" EXACT [MONDORULE:1, OMIM:614370] +synonym: "surfactant metabolism dysfunction, pulmonary, type 5" EXACT [MONDORULE:1] xref: GARD:15793 {source="MONDO:GARD"} xref: MEDGEN:482204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614370 {source="MONDO:equivalentTo"} @@ -314722,12 +314779,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013713 name: dengue virus, susceptibility to subset: predisposition -synonym: "Dengue fever, protection against" RELATED [OMIM:614371] -synonym: "Dengue fever, susceptibility to" RELATED [OMIM:614371] -synonym: "Dengue hemorrhagic fever, susceptibility to" RELATED [OMIM:614371] -synonym: "Dengue shock syndrome, susceptibility to" RELATED [OMIM:614371] +synonym: "Dengue fever, protection against" RELATED [] +synonym: "Dengue fever, susceptibility to" RELATED [] +synonym: "Dengue hemorrhagic fever, susceptibility to" RELATED [] +synonym: "Dengue shock syndrome, susceptibility to" RELATED [] synonym: "dengue virus, susceptibility to" EXACT [OMIM:614371] -synonym: "susceptibility to dengue virus" RELATED [OMIM:614371] +synonym: "susceptibility to dengue virus" RELATED [] xref: MEDGEN:482212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614371 {source="MONDO:equivalentTo"} xref: Orphanet:99828 {source="MONDO:relatedTo", source="OMIM:614371"} @@ -314743,13 +314800,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lectin complement activation pathway, defect in, 1" RELATED [OMIM:614372] +synonym: "lectin complement activation pathway, defect in, 1" RELATED [] synonym: "mannose-binding lectin deficiency" EXACT [OMIM:614372] synonym: "mannose-binding protein deficiency" EXACT [OMIM:614372] -synonym: "MBL deficiency" RELATED [OMIM:614372] -synonym: "MBL2 deficiency" RELATED [OMIM:614372] -synonym: "MBLD" RELATED ABBREVIATION [OMIM:614372] -synonym: "MBP deficiency" RELATED [OMIM:614372] +synonym: "MBL deficiency" RELATED [] +synonym: "MBL2 deficiency" RELATED [] +synonym: "MBLD" RELATED ABBREVIATION [] +synonym: "MBP deficiency" RELATED [] xref: ICD9:279.19 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:482216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563602 {source="MONDO:equivalentTo"} @@ -314770,8 +314827,8 @@ subset: gard_rare {source="GARD:15794", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ALS16" EXACT ABBREVIATION [DOID:0060207, MONDO:Lexical, OMIM:614373] -synonym: "amyotrophic lateral sclerosis 16" EXACT [DOID:0060207, OMIM:614373] -synonym: "amyotrophic lateral sclerosis 16, juvenile" RELATED [DOID:0060207, MONDO:Lexical, OMIM:614373] +synonym: "amyotrophic lateral sclerosis 16" EXACT [DOID:0060207] +synonym: "amyotrophic lateral sclerosis 16, juvenile" RELATED [MONDO:Lexical] synonym: "amyotrophic lateral sclerosis caused by mutation in SIGMAR1" EXACT [MONDO:design_pattern] synonym: "SIGMAR1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060207 {source="MONDO:equivalentTo"} @@ -314809,8 +314866,8 @@ def: "Any Jeune syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:15795", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "asphyxiating thoracic dystrophy 5" EXACT [OMIM:614376] -synonym: "asphyxiating thoracic dystrophy type 5" EXACT [DOID:0110089, MONDORULE:1] +synonym: "asphyxiating thoracic dystrophy 5" EXACT [DOID:0110089, OMIM:614376] +synonym: "asphyxiating thoracic dystrophy type 5" EXACT [MONDORULE:1] synonym: "ATD5" EXACT ABBREVIATION [DOID:0110089] synonym: "Jeune syndrome caused by mutation in WDR19" EXACT [MONDO:design_pattern] synonym: "short-rib thoracic dysplasia 5 with or without polydactyly" EXACT [DOID:0110089, MONDO:Lexical, OMIM:614376] @@ -314835,8 +314892,8 @@ def: "A nephronophthisis that has material basis in homozygous or compound heter subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "nephronophthisis 13" EXACT [MONDO:Lexical, OMIM:614377] -synonym: "nephronophthisis type 13" EXACT [DOID:0111121, MONDORULE:2, OMIM:614377] +synonym: "nephronophthisis 13" EXACT [DOID:0111121, MONDO:Lexical, OMIM:614377] +synonym: "nephronophthisis type 13" EXACT [MONDORULE:2] synonym: "NPHP13" EXACT ABBREVIATION [DOID:0111121, MONDO:Lexical, OMIM:614377] xref: DOID:0111121 {source="MONDO:equivalentTo"} xref: MEDGEN:482242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -314853,9 +314910,9 @@ name: cranioectodermal dysplasia 4 subset: gard_rare {source="GARD:15796", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CED4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614378] -synonym: "cranioectodermal dysplasia 4" EXACT [MONDO:Lexical, OMIM:614378] -synonym: "cranioectodermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614378] +synonym: "CED4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "cranioectodermal dysplasia 4" EXACT [DOID:0080806, MONDO:Lexical, OMIM:614378] +synonym: "cranioectodermal dysplasia type 4" EXACT [MONDORULE:1] xref: DOID:0080806 {source="MONDO:equivalentTo"} xref: GARD:15796 {source="MONDO:GARD"} xref: MEDGEN:482246 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -314873,11 +314930,11 @@ def: "Any classic complement early component deficiency in which the cause of th subset: gard_rare {source="GARD:15797", source="MONDO:GARD"} subset: rare synonym: "C4B classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "C4B deficiency" RELATED [OMIM:614379] -synonym: "C4BD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614379] +synonym: "C4B deficiency" RELATED [] +synonym: "C4BD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "classic complement early component deficiency caused by mutation in C4B" EXACT [MONDO:design_pattern] -synonym: "complement component 4B deficiency" RELATED [OMIM:614379] -synonym: "complement component 4b deficiency" EXACT [MONDO:Lexical, OMIM:614379] +synonym: "complement component 4B deficiency" RELATED [] +synonym: "complement component 4b deficiency" EXACT [DOID:0060298, MONDO:Lexical, OMIM:614379] xref: DOID:0060298 {source="MONDO:equivalentTo"} xref: GARD:15797 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="DOID:0060298"} @@ -314898,11 +314955,11 @@ def: "Any classic complement early component deficiency in which the cause of th subset: gard_rare {source="GARD:15798", source="MONDO:GARD"} subset: rare synonym: "C4A classic complement early component deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "C4A deficiency" RELATED [OMIM:614380] -synonym: "C4AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614380] +synonym: "C4A deficiency" RELATED [] +synonym: "C4AD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "classic complement early component deficiency caused by mutation in C4A" EXACT [MONDO:design_pattern] -synonym: "complement component 4A deficiency" RELATED [OMIM:614380] -synonym: "complement component 4a deficiency" EXACT [MONDO:Lexical, OMIM:614380] +synonym: "complement component 4A deficiency" RELATED [] +synonym: "complement component 4a deficiency" EXACT [DOID:0060297, MONDO:Lexical, OMIM:614380] xref: DOID:0060297 {source="MONDO:equivalentTo"} xref: GARD:15798 {source="MONDO:GARD"} xref: ICD10CM:D84.1 {source="DOID:0060297"} @@ -314928,11 +314985,11 @@ subset: ordo_disorder {source="Orphanet:85186"} subset: ordo_malformation_syndrome {source="Orphanet:85186"} subset: orphanet_rare {source="Orphanet:85186"} subset: rare -synonym: "cerebellar hypoplasia with endosteal sclerosis" RELATED [OMIM:213002] -synonym: "endosteal sclerosis-cerebellar hypoplasia syndrome" EXACT [MONDO:0008940] +synonym: "cerebellar hypoplasia with endosteal sclerosis" RELATED [] +synonym: "endosteal sclerosis-cerebellar hypoplasia syndrome" EXACT [MONDO:0008940, Orphanet:85186] synonym: "HLD8" EXACT ABBREVIATION [DOID:0060797, MONDO:Lexical, OMIM:614381] synonym: "leukodystrophy caused by mutation in POLR3B" EXACT [MONDO:design_pattern] -synonym: "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" RELATED [MONDO:Lexical, OMIM:614381] +synonym: "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" RELATED [MONDO:Lexical] synonym: "POLR3B leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060797 {source="MONDO:equivalentTo"} xref: GARD:18624 {source="MONDO:GARD"} @@ -314969,12 +315026,12 @@ id: MONDO:0013723 name: bacteremia, susceptibility to, 1 def: "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "bacteremia, protection against" EXACT [OMIM:614382, OMIM:genemap2] -synonym: "bacteremia, resistance to" RELATED [OMIM:614382] +synonym: "bacteremia, protection against" EXACT [] +synonym: "bacteremia, resistance to" RELATED [] synonym: "bacteremia, susceptibility caused by mutation in TIRAP" EXACT [MONDO:design_pattern] synonym: "bacteremia, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:614382] -synonym: "bacteremia, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:614382] -synonym: "BACTS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614382] +synonym: "bacteremia, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "BACTS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TIRAP bacteremia, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:482275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614382 {source="MONDO:equivalentTo"} @@ -314991,10 +315048,10 @@ name: bacteremia, susceptibility to, 2 def: "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition synonym: "bacteremia, susceptibility caused by mutation in CISH" EXACT [MONDO:design_pattern] -synonym: "bacteremia, susceptibility to" EXACT [OMIM:614383, OMIM:genemap2] +synonym: "bacteremia, susceptibility to" EXACT [] synonym: "bacteremia, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:614383] -synonym: "bacteremia, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:614383] -synonym: "BACTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614383] +synonym: "bacteremia, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "BACTS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CISH bacteremia, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:482277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614383 {source="MONDO:equivalentTo"} @@ -315015,7 +315072,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "colorectal cancer, hereditary nonpolyposis, type 7" EXACT [MONDO:Lexical, OMIM:614385] synonym: "hereditary nonpolyposis colon cancer caused by mutation in MLH3" EXACT [MONDO:design_pattern] -synonym: "HNPCC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614385] +synonym: "HNPCC7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MLH3 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070276 {source="MONDO:equivalentTo"} xref: GARD:15799 {source="MONDO:GARD"} @@ -315041,10 +315098,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:330050"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] -synonym: "EMPF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614388] -synonym: "EMPF1" RELATED ABBREVIATION [OMIM:614388] -synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission 1" RELATED [OMIM:614388] -synonym: "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission" RELATED [MONDO:Lexical, OMIM:614388] +synonym: "EMPF" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "EMPF1" RELATED ABBREVIATION [] +synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission 1" RELATED [] +synonym: "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission" RELATED [MONDO:Lexical] synonym: "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" EXACT [] synonym: "lethal encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT [UMLS:C3280660] xref: DOID:0070347 {source="MONDO:equivalentTo"} @@ -315066,19 +315123,19 @@ id: MONDO:0013727 name: pregnancy loss, recurrent, susceptibility to, 1 def: "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "abortion, spontaneous, recurrent" RELATED [OMIM:614389] -synonym: "embryonic loss, recurrent" RELATED [OMIM:614389] +synonym: "abortion, spontaneous, recurrent" RELATED [] +synonym: "embryonic loss, recurrent" RELATED [] synonym: "F5 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "fetal loss, recurrent, susceptibility to" RELATED [OMIM:614389] +synonym: "fetal loss, recurrent, susceptibility to" RELATED [] synonym: "foetal loss, recurrent, susceptibility to" RELATED OMO:0003005 [] -synonym: "miscarriage, recurrent" RELATED [OMIM:614389] +synonym: "miscarriage, recurrent" RELATED [] synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in F5" EXACT [MONDO:design_pattern] synonym: "pregnancy loss, recurrent, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:614389] -synonym: "pregnancy loss, recurrent, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:614389] -synonym: "Rpl" RELATED [OMIM:614389] -synonym: "Rprgl" RELATED [OMIM:614389] -synonym: "RPRGL1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614389] -synonym: "stillbirth, recurrent" RELATED [OMIM:614389] +synonym: "pregnancy loss, recurrent, susceptibility to, type 1" EXACT [MONDORULE:1] +synonym: "Rpl" RELATED [] +synonym: "Rprgl" RELATED [] +synonym: "RPRGL1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "stillbirth, recurrent" RELATED [] xref: MEDGEN:482300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614389 {source="MONDO:equivalentTo"} xref: UMLS:C3280670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482300"} @@ -315095,8 +315152,8 @@ subset: predisposition synonym: "F2 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in F2" EXACT [MONDO:design_pattern] synonym: "pregnancy loss, recurrent, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:614390] -synonym: "pregnancy loss, recurrent, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:614390] -synonym: "RPRGL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614390] +synonym: "pregnancy loss, recurrent, susceptibility to, type 2" EXACT [MONDORULE:1] +synonym: "RPRGL2" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:482302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614390 {source="MONDO:equivalentTo"} xref: UMLS:C3280672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482302"} @@ -315113,8 +315170,8 @@ subset: predisposition synonym: "ANXA5 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5" EXACT [MONDO:design_pattern] synonym: "pregnancy loss, recurrent, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:614391] -synonym: "pregnancy loss, recurrent, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:614391] -synonym: "RPRGL3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614391] +synonym: "pregnancy loss, recurrent, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "RPRGL3" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:482304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614391 {source="MONDO:equivalentTo"} xref: UMLS:C3280674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482304"} @@ -315139,18 +315196,19 @@ synonym: "disease, homologous wasting" RELATED [MESH:D006086] synonym: "disease, runt" RELATED [MESH:D006086] synonym: "diseases, graft-versus-host" EXACT [MESH:D006086] synonym: "diseases, graft-vs-host" EXACT [MESH:D006086] -synonym: "graft versus host disease" EXACT [MESH:D006086] +synonym: "graft versus host disease" EXACT [DOID:0081267, MESH:D006086, NCIT:C3063, Orphanet:39812] synonym: "graft vs host disease" EXACT [NCIT:C3063] synonym: "graft vs. host disease" EXACT [NCIT:C3063] -synonym: "graft-versus-host disease" EXACT [MESH:D006086, NCIT:C3063] -synonym: "graft-versus-host disease, resistance to" RELATED [OMIM:614395] -synonym: "graft-versus-host disease, susceptibility to" RELATED [MONDO:Lexical, OMIM:614395] +synonym: "graft-versus-host disease" EXACT [DOID:0081267, icd11.foundation:437372167, MESH:D006086] +synonym: "graft-versus-host disease, resistance to" RELATED [] +synonym: "graft-versus-host disease, susceptibility to" RELATED [MONDO:Lexical] synonym: "graft-versus-host diseases" RELATED [MESH:D006086] synonym: "graft-versus-host-disease" EXACT [NCIT:C3063] synonym: "graft-vs-host disease" EXACT [MESH:D006086] synonym: "graft-VS-host diseases" RELATED [MESH:D006086] -synonym: "GVH" EXACT ABBREVIATION [Orphanet:39812] -synonym: "GVHD" EXACT ABBREVIATION [NCIT:C3063] +synonym: "GVH" EXACT ABBREVIATION [] +synonym: "GVHD" EXACT ABBREVIATION [NCIT:C3063, Orphanet:39812] +synonym: "GvHD" EXACT ABBREVIATION [DOID:0081267] synonym: "homologous wasting disease" RELATED [MESH:D006086] synonym: "runt disease" EXACT [MESH:D006086, NCIT:C3063] xref: DOID:0081267 {source="MONDO:equivalentTo"} @@ -315186,11 +315244,11 @@ synonym: "A congenital myopathy caused by mutations in the multiple epidermal gr synonym: "congenital myopathy 10A, severe variant" EXACT [OMIM:614399] synonym: "early-onset myopathy, areflexia, respiratory distress and dysphagia" RELATED [GARD:0012199] synonym: "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome" RELATED [https://github.com/monarch-initiative/mondo/issues/1112] -synonym: "EMARDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614399, Orphanet:439212] +synonym: "EMARDD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MEGF10 myopathy" EXACT [https://github.com/monarch-initiative/mondo/issues/1112] synonym: "MEGF10-related myopathy" EXACT CLINGEN_LABEL [] -synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset" RELATED [MONDO:Lexical, OMIM:614399] -synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" RELATED [OMIM:614399] +synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset" RELATED [MONDO:Lexical] +synonym: "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" RELATED [] xref: DOID:0111333 {source="MONDO:equivalentTo"} xref: GARD:12199 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:439212", source="Orphanet:439212/attributed", source="Orphanet:439212/ntbt"} @@ -315207,7 +315265,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013732 name: glucocorticoid therapy, response to -synonym: "GCTR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614400] +synonym: "GCTR" RELATED ABBREVIATION [MONDO:Lexical] synonym: "glucocorticoid therapy, response to" EXACT [MONDO:Lexical, OMIM:614400] xref: MEDGEN:482319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614400 {source="MONDO:equivalentTo"} @@ -315219,8 +315277,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0013733 name: obsolete accelerated tumor formation, susceptibility to comment: Reason: out of scope. Term to consider: None -synonym: "accelerated tumor formation, susceptibility to" EXACT [MONDO:Lexical, OMIM:614401] -synonym: "ACTFS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614401] +synonym: "accelerated tumor formation, susceptibility to" EXACT [MONDO:Lexical] +synonym: "ACTFS" RELATED ABBREVIATION [MONDO:Lexical] xref: OMIM:614401 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease property_value: IAO:0000231 OMO:0001000 @@ -315234,9 +315292,9 @@ def: "Any syndromic microphthalmia in which the cause of the disease is a mutati subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCOPS11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614402] +synonym: "MCOPS11" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microphthalmia, syndromic 11" EXACT [MONDO:Lexical, OMIM:614402] -synonym: "microphthalmia, syndromic type 11" EXACT [MONDORULE:2, OMIM:614402] +synonym: "microphthalmia, syndromic type 11" EXACT [MONDORULE:2] synonym: "syndromic microphthalmia caused by mutation in VAX1" EXACT [MONDO:design_pattern] synonym: "VAX1 syndromic microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111804 {source="MONDO:equivalentTo"} @@ -315258,10 +315316,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:329332"} subset: orphanet_rare {source="Orphanet:329332"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MCHCCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614407] -synonym: "microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome" RELATED [MONDO:Lexical, OMIM:614407] +synonym: "MCHCCD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome" RELATED [MONDO:Lexical] synonym: "microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome" EXACT [Orphanet:329332] -synonym: "Zaki-Gleeson syndrome" RELATED [OMIM:614407] +synonym: "Zaki-Gleeson syndrome" RELATED [] xref: GARD:17502 {source="MONDO:GARD"} xref: MEDGEN:482322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614407 {source="Orphanet:329332/e", source="MONDO:equivalentTo", source="Orphanet:329332"} @@ -315291,11 +315349,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GBA2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 46" EXACT [DOID:0110798] -synonym: "autosomal recessive spastic paraplegia type 46" EXACT [DOID:0110798] +synonym: "autosomal recessive spastic paraplegia type 46" EXACT [DOID:0110798, Orphanet:320391] synonym: "GBA2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia 46" EXACT CLINGEN_LABEL [] -synonym: "hereditary spastic paraplegia type 46" EXACT [DOID:0110798, MONDORULE:2] -synonym: "spastic paraplegia 46, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614409] +synonym: "hereditary spastic paraplegia 46" EXACT CLINGEN_LABEL [DOID:0110798] +synonym: "hereditary spastic paraplegia type 46" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 46, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG46" EXACT ABBREVIATION [DOID:0110798, MONDO:Lexical, OMIM:614409, Orphanet:320391] xref: DOID:0110798 {source="MONDO:equivalentTo"} xref: GARD:17476 {source="MONDO:GARD"} @@ -315317,11 +315375,11 @@ def: "An autosomal recessive nonsyndromic deafness that has material basis in va subset: gard_rare {source="GARD:22642", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 96" NARROW [DOID:0110538] -synonym: "autosomal recessive nonsyndromic deafness 96" NARROW [OMIM:614414] -synonym: "autosomal recessive nonsyndromic deafness type 96" NARROW [DOID:0110538, MONDORULE:2] -synonym: "deafness, autosomal recessive 96" NARROW [MONDO:Lexical, OMIM:614414, OMIM:genemap2] -synonym: "DFNB96" NARROW ABBREVIATION [DOID:0110538, MONDO:Lexical, OMIM:614414] +synonym: "autosomal recessive deafness 96" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 96" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness type 96" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 96" NARROW [MONDO:Lexical] +synonym: "DFNB96" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110538 {source="MONDO:equivalentTo"} xref: GARD:22642 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110538"} @@ -315339,10 +315397,10 @@ def: "Any chilblain lupus in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:18494", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CHBL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614415] +synonym: "CHBL2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "chilblain lupus 2" EXACT [MONDO:Lexical, OMIM:614415] synonym: "chilblain lupus caused by mutation in SAMHD1" EXACT [MONDO:design_pattern] -synonym: "Chilblain lupus type 2" EXACT [MONDORULE:1, OMIM:614415] +synonym: "Chilblain lupus type 2" EXACT [MONDORULE:1] synonym: "SAMHD1 chilblain lupus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18494 {source="MONDO:GARD"} xref: MEDGEN:482351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -315368,9 +315426,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:293925"} subset: orphanet_rare {source="Orphanet:293925"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies" EXACT [OMIM:614416, OMIM:genemap2] -synonym: "radiohumeral fusions with other skeletal and craniofacial anomalies" RELATED [MONDO:Lexical, OMIM:614416] -synonym: "RHFCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614416] +synonym: "craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies" EXACT [] +synonym: "radiohumeral fusions with other skeletal and craniofacial anomalies" RELATED [MONDO:Lexical] +synonym: "RHFCA" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17348 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:293925/attributed", source="Orphanet:293925/ntbt", source="Orphanet:293925"} xref: MEDGEN:482359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -315390,10 +315448,10 @@ def: "A temporal lobe epilepsy that has material basis in heterozygous mutation subset: gard_rare {source="GARD:18280", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "epilepsy, familial temporal lobe, 5" RELATED [MONDO:Lexical, OMIM:614417] -synonym: "epilepsy, familial temporal lobe, type 5" EXACT [MONDORULE:1, OMIM:614417] +synonym: "epilepsy, familial temporal lobe, 5" RELATED [MONDO:Lexical] +synonym: "epilepsy, familial temporal lobe, type 5" EXACT [MONDORULE:1] synonym: "ETL5" EXACT ABBREVIATION [DOID:0060752, MONDO:Lexical, OMIM:614417] -synonym: "familial temporal lobe epilepsy type 5" EXACT [DOID:0060752, MONDORULE:1] +synonym: "familial temporal lobe epilepsy type 5" EXACT [MONDORULE:1] xref: DOID:0060752 {source="MONDO:equivalentTo"} xref: GARD:18280 {source="MONDO:GARD"} xref: MEDGEN:482360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -315409,9 +315467,9 @@ id: MONDO:0013742 name: obsolete familial mesial temporal lobe epilepsy with febrile seizures subset: ordo_disorder {source="Orphanet:165805"} subset: otar {source="MONDO:OTAR"} -synonym: "FEB11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614418] -synonym: "febrile seizures, familial, 11" RELATED [MONDO:Lexical, OMIM:614418] -synonym: "febrile seizures, familial, type 11" EXACT [MONDORULE:2, OMIM:614418] +synonym: "FEB11" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "febrile seizures, familial, 11" RELATED [MONDO:Lexical] +synonym: "febrile seizures, familial, type 11" EXACT [MONDORULE:2] xref: Orphanet:165805 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -315430,12 +315488,12 @@ subset: ordo_disorder {source="Orphanet:300345"} subset: orphanet_rare {source="Orphanet:300345"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal SLE" BROAD [Orphanet:300345] -synonym: "familial SLE" BROAD [Orphanet:300345] -synonym: "familial systemic lupus erythematosus" BROAD [Orphanet:300345] +synonym: "autosomal SLE" BROAD [] +synonym: "familial SLE" BROAD [] +synonym: "familial systemic lupus erythematosus" BROAD [] synonym: "SLEB16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614420] synonym: "systemic lupus erythematosus 16" EXACT [OMIM:614420] -synonym: "systemic lupus erythematosus type 16" EXACT [MONDORULE:2, OMIM:614420] +synonym: "systemic lupus erythematosus type 16" EXACT [MONDORULE:2] xref: GARD:17368 {source="MONDO:GARD"} xref: ICD10CM:M32.8 {source="Orphanet:300345", source="Orphanet:300345/attributed", source="Orphanet:300345/ntbt"} xref: MEDGEN:482372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -315455,10 +315513,10 @@ def: "A cataract that has material basis in variation in the region 12q24.2-q24. subset: gard_rare {source="GARD:15800", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 37" EXACT [MONDO:Lexical, OMIM:614422] -synonym: "cataract 37, autosomal dominant" EXACT [OMIM:614422, OMIM:genemap2] -synonym: "cataract type 37" EXACT [DOID:0110252, MONDORULE:2] -synonym: "cataract, congenital, cerulean type, 5" RELATED [OMIM:614422] +synonym: "cataract 37" EXACT [DOID:0110252, MONDO:Lexical, OMIM:614422] +synonym: "cataract 37, autosomal dominant" EXACT [] +synonym: "cataract type 37" EXACT [MONDORULE:2] +synonym: "cataract, congenital, cerulean type, 5" RELATED [] synonym: "CCA5" NARROW ABBREVIATION [DOID:0110252] synonym: "congenital cataract cerulean type 5" NARROW [DOID:0110252] synonym: "CTRCT37" EXACT ABBREVIATION [DOID:0110252, MONDO:Lexical, OMIM:614422] @@ -315485,9 +315543,9 @@ subset: gard_rare {source="GARD:15801", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS14" EXACT ABBREVIATION [DOID:0110983, MONDO:Lexical, OMIM:614424] -synonym: "Joubert syndrome 14" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614424] +synonym: "Joubert syndrome 14" EXACT CLINGEN_LABEL [DOID:0110983, MONDO:Lexical, OMIM:614424] synonym: "Joubert syndrome caused by mutation in TMEM237" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 14" EXACT [DOID:0110983, MONDORULE:2, OMIM:614424] +synonym: "Joubert syndrome type 14" EXACT [MONDORULE:2] synonym: "TMEM237 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110983 {source="MONDO:equivalentTo"} xref: GARD:15801 {source="MONDO:GARD"} @@ -315514,8 +315572,8 @@ subset: otar {source="MONDO:OTAR"} synonym: "GATA4 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ventricular septal defect (disease) caused by mutation in GATA4" EXACT [] synonym: "ventricular septal defect 1" EXACT [MONDO:Lexical, OMIM:614429] -synonym: "ventricular septal defect type 1" EXACT [MONDORULE:1, OMIM:614429] -synonym: "VSD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614429] +synonym: "ventricular septal defect type 1" EXACT [MONDORULE:1] +synonym: "VSD1" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:482407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614429 {source="MONDO:equivalentTo"} xref: Orphanet:1480 {source="OMIM:614429"} @@ -315536,8 +315594,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atrioventricular septal defect 4" EXACT [MONDO:Lexical, OMIM:614430] synonym: "atrioventricular septal defect caused by mutation in GATA4" EXACT [MONDO:design_pattern] -synonym: "atrioventricular septal defect type 4" EXACT [MONDORULE:1, OMIM:614430] -synonym: "AVSD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614430] +synonym: "atrioventricular septal defect type 4" EXACT [MONDORULE:1] +synonym: "AVSD4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "GATA4 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:482411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614430 {source="MONDO:equivalentTo"} @@ -315557,8 +315615,8 @@ subset: otar {source="MONDO:OTAR"} synonym: "CITED2 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ventricular septal defect (disease) caused by mutation in CITED2" EXACT [] synonym: "ventricular septal defect 2" EXACT [MONDO:Lexical, OMIM:614431] -synonym: "ventricular septal defect type 2" EXACT [MONDORULE:1, OMIM:614431] -synonym: "VSD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614431] +synonym: "ventricular septal defect type 2" EXACT [MONDORULE:1] +synonym: "VSD2" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:482413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614431 {source="MONDO:equivalentTo"} xref: Orphanet:1480 {source="OMIM:614431"} @@ -315577,8 +315635,8 @@ subset: otar {source="MONDO:OTAR"} synonym: "NKX2-5 ventricular septal defect (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "ventricular septal defect (disease) caused by mutation in NKX2-5" EXACT [] synonym: "ventricular septal defect 3" EXACT [MONDO:Lexical, OMIM:614432] -synonym: "ventricular septal defect type 3" EXACT [MONDORULE:1, OMIM:614432] -synonym: "VSD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614432] +synonym: "ventricular septal defect type 3" EXACT [MONDORULE:1] +synonym: "VSD3" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:482415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614432 {source="MONDO:equivalentTo"} xref: Orphanet:1480 {source="OMIM:614432"} @@ -315598,9 +315656,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ASD8" EXACT ABBREVIATION [DOID:0110113, MONDO:Lexical, OMIM:614433] synonym: "atrial heart septal defect caused by mutation in CITED2" EXACT [MONDO:design_pattern] -synonym: "atrial heart septal defect type 8" EXACT [DOID:0110113, MONDORULE:1] +synonym: "atrial heart septal defect type 8" EXACT [MONDORULE:1] synonym: "atrial septal defect 8" EXACT [DOID:0110113, MONDO:Lexical, OMIM:614433] -synonym: "atrial septal defect type 8" EXACT [MONDORULE:1, OMIM:614433] +synonym: "atrial septal defect type 8" EXACT [MONDORULE:1] synonym: "CITED2 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110113 {source="MONDO:equivalentTo"} xref: ICD10CM:Q21.1 {source="DOID:0110113"} @@ -315620,11 +315678,11 @@ def: "Any autosomal dominant cutis laxa in which the cause of the disease is a m subset: gard_rare {source="GARD:15802", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ADCL2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614434] +synonym: "ADCL2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "autosomal dominant cutis laxa 2" EXACT [DOID:0070136] synonym: "autosomal dominant cutis laxa caused by mutation in FBLN5" EXACT [MONDO:design_pattern] synonym: "cutis laxa, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:614434] -synonym: "cutis laxa, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:614434] +synonym: "cutis laxa, autosomal dominant type 2" EXACT [MONDORULE:1] synonym: "FBLN5 autosomal dominant cutis laxa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070136 {source="MONDO:equivalentTo"} xref: GARD:15802 {source="MONDO:GARD"} @@ -315646,10 +315704,10 @@ def: "Any hypoplastic left heart syndrome in which the cause of the disease is a subset: gard_rare {source="GARD:15803", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HLHS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614435] +synonym: "HLHS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hypoplastic left heart syndrome 2" EXACT [MONDO:Lexical, OMIM:614435] synonym: "hypoplastic left heart syndrome caused by mutation in NKX2-5" EXACT [MONDO:design_pattern] -synonym: "hypoplastic left heart syndrome type 2" EXACT [MONDORULE:1, OMIM:614435] +synonym: "hypoplastic left heart syndrome type 2" EXACT [MONDORULE:1] synonym: "NKX2-5 hypoplastic left heart syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15803 {source="MONDO:GARD"} xref: ICD10CM:Q23.4 {source="Orphanet:2248"} @@ -315675,22 +315733,22 @@ subset: ordo_disorder {source="Orphanet:99941", source="Orphanet:300319"} subset: orphanet_rare {source="Orphanet:99941", source="Orphanet:300319"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2G" EXACT [MONDO:0012070] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2G" EXACT [MONDO:0012070, Orphanet:99941] synonym: "Charcot Marie Tooth disease type 2G" RELATED [GARD:0009195] synonym: "Charcot-Marie-Tooth disease caused by mutation in LRSAM1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2G" RELATED [GARD:0009195] -synonym: "Charcot-Marie-Tooth disease type 2P" EXACT [DOID:0110169] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2G" RELATED [GARD:0009195, MONDO:Lexical, OMIM:608591] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2G, formerly" RELATED [OMIM:614436] +synonym: "Charcot-Marie-Tooth disease type 2P" EXACT [DOID:0110169, Orphanet:300319] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2G" RELATED [GARD:0009195, MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2G, formerly" RELATED [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2P" EXACT [MONDO:Lexical, OMIM:614436] synonym: "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" RELATED [GARD:0009195] synonym: "Charcot-Marie-Tooth disease, type 4A, axonal form" RELATED [GARD:0009195] synonym: "Charcot-Marie-Tooth neuropathy type 2P" EXACT [DOID:0110169] -synonym: "Charcot-Marie-Tooth neuropathy, type 2G" RELATED [OMIM:608591] +synonym: "Charcot-Marie-Tooth neuropathy, type 2G" RELATED [] synonym: "Charcot-Marie-Tooth neuropathy, type 2P" EXACT [OMIM:614436] synonym: "Charcot-Marie-Toothe disease, axonal, type 2P" EXACT [GARD:0012435] synonym: "CMT 2G" RELATED [GARD:0009195] -synonym: "CMT2G" RELATED ABBREVIATION [MONDO:Lexical, OMIM:608591, Orphanet:99941] +synonym: "CMT2G" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CMT2P" EXACT ABBREVIATION [DOID:0110169, MONDO:Lexical, OMIM:614436, Orphanet:300319] synonym: "LRSAM1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110169 {source="MONDO:equivalentTo"} @@ -315719,8 +315777,8 @@ subset: gard_rare {source="GARD:15804", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARCL1B" EXACT ABBREVIATION [DOID:0070133, MONDO:Lexical, OMIM:614437] -synonym: "autosomal recessive cutis laxa type IB" RELATED [DOID:0070133] -synonym: "cutis laxa, autosomal recessive, type IB" RELATED [MONDO:Lexical, OMIM:614437] +synonym: "autosomal recessive cutis laxa type IB" RELATED [] +synonym: "cutis laxa, autosomal recessive, type IB" RELATED [MONDO:Lexical] xref: DOID:0070133 {source="MONDO:equivalentTo"} xref: GARD:15804 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="DOID:0070133"} @@ -315746,10 +315804,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:293633"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ARCL3B" EXACT ABBREVIATION [DOID:0070138, MONDO:Lexical, OMIM:614438] -synonym: "autosomal recessive cutis laxa type IIIB" RELATED [DOID:0070138] -synonym: "cutis laxa, autosomal recessive, type 3B" RELATED [OMIM:614438] -synonym: "cutis laxa, autosomal recessive, type IIIB" RELATED [MONDO:Lexical, OMIM:614438] -synonym: "De Barsy syndrome B" EXACT [DOID:0070138, OMIM:614438] +synonym: "autosomal recessive cutis laxa type IIIB" RELATED [] +synonym: "cutis laxa, autosomal recessive, type 3B" RELATED [] +synonym: "cutis laxa, autosomal recessive, type IIIB" RELATED [MONDO:Lexical] +synonym: "De Barsy syndrome B" EXACT [DOID:0070138] synonym: "de Barsy syndrome caused by mutation in PYCR1" EXACT [MONDO:design_pattern] synonym: "PYCR1 de Barsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PYCR1 deficiency" EXACT [Orphanet:293633] @@ -315776,12 +315834,12 @@ def: "Any primary hypertrophic osteoarthropathy in which the cause of the diseas subset: gard_rare {source="GARD:15805", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive 2" EXACT [OMIM:614441, OMIM:genemap2] +synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive 2" EXACT [] synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 2" EXACT [MONDO:Lexical, OMIM:614441] -synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:614441] -synonym: "pachydermoperiostosis, autosomal recessive" RELATED [OMIM:614441] -synonym: "PDP, autosomal recessive" RELATED [OMIM:614441] -synonym: "PHOAR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614441] +synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, type 2" EXACT [MONDORULE:1] +synonym: "pachydermoperiostosis, autosomal recessive" RELATED [] +synonym: "PDP, autosomal recessive" RELATED [] +synonym: "PHOAR2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1" EXACT [MONDO:design_pattern] synonym: "SLCO2A1 primary hypertrophic osteoarthropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15805 {source="MONDO:GARD"} @@ -315805,7 +315863,7 @@ synonym: "CHNG6" EXACT ABBREVIATION [DOID:0070128, MONDO:Lexical, OMIM:614450] synonym: "congenital nongoitrous hypothyroidism 6" EXACT [DOID:0070128] synonym: "hypothyroidism, congenital, nongoitrous caused by mutation in THRA" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, nongoitrous, 6" EXACT [MONDO:Lexical, OMIM:614450] -synonym: "hypothyroidism, congenital, nongoitrous, type 6" EXACT [MONDORULE:1, OMIM:614450] +synonym: "hypothyroidism, congenital, nongoitrous, type 6" EXACT [MONDORULE:1] synonym: "THRA hypothyroidism, congenital, nongoitrous" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070128 {source="MONDO:equivalentTo"} xref: ICD10CM:E03.1 {source="DOID:0070128"} @@ -315834,12 +315892,12 @@ subset: ordo_disorder {source="Orphanet:93114"} subset: orphanet_rare {source="Orphanet:93114"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type E" EXACT [DOID:0110205] +synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type E" EXACT [DOID:0110205, Orphanet:93114] synonym: "Charcot-Marie-Tooth disease - nephropathy" RELATED [GARD:0012011] -synonym: "Charcot-Marie-Tooth disease dominant intermediate E" EXACT CLINGEN_LABEL [] -synonym: "Charcot-Marie-Tooth disease dominant intermediate type E" EXACT [DOID:0110205, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, dominant intermediate E" RELATED [MONDO:Lexical, OMIM:614455] -synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type E" EXACT [MONDORULE:1, OMIM:614455] +synonym: "Charcot-Marie-Tooth disease dominant intermediate E" EXACT CLINGEN_LABEL [DOID:0110205] +synonym: "Charcot-Marie-Tooth disease dominant intermediate type E" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, dominant intermediate E" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type E" EXACT [MONDORULE:1] synonym: "Charcot-Marie-Tooth disease-nephropathy syndrome" EXACT [DOID:0110205, Orphanet:93114] synonym: "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis" EXACT [DOID:0110205, OMIM:614455] synonym: "CMTDIE" EXACT ABBREVIATION [DOID:0110205, MONDO:Lexical, OMIM:614455, Orphanet:93114] @@ -315863,12 +315921,12 @@ subset: ordo_disorder {source="Orphanet:293822"} subset: orphanet_rare {source="Orphanet:293822"} subset: predisposition subset: rare -synonym: "CMM8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614456] -synonym: "melanoma and renal cell carcinoma, susceptibility to" RELATED [OMIM:614456] +synonym: "CMM8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "melanoma and renal cell carcinoma, susceptibility to" RELATED [] synonym: "melanoma, cutaneous malignant, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:614456] -synonym: "melanoma, cutaneous malignant, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:614456] +synonym: "melanoma, cutaneous malignant, susceptibility to, type 8" EXACT [MONDORULE:1] synonym: "MITF-related melanoma and renal cell carcinoma predisposition syndrome" EXACT [Orphanet:293822] -synonym: "susceptibility to cutaneous malignant melanoma 8" RELATED [OMIM:614456] +synonym: "susceptibility to cutaneous malignant melanoma 8" RELATED [] xref: MEDGEN:463554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614456 {source="Orphanet:293822/e", source="MONDO:equivalentTo", source="Orphanet:293822"} xref: Orphanet:293822 {source="OMIM:614456", source="MONDO:equivalentTo"} @@ -315893,9 +315951,9 @@ subset: orphanet_rare {source="Orphanet:352333"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome" EXACT [Orphanet:352333] -synonym: "ichthyosis, spastic quadriplegia, and intellectual disability" RELATED [MONDO:Lexical, OMIM:614457] -synonym: "ichthyosis, spastic quadriplegia, and mental retardation" RELATED DEPRECATED [MONDO:Lexical, OMIM:614457] -synonym: "ISQMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:614457] +synonym: "ichthyosis, spastic quadriplegia, and intellectual disability" RELATED [MONDO:Lexical] +synonym: "ichthyosis, spastic quadriplegia, and mental retardation" RELATED DEPRECATED [MONDO:Lexical] +synonym: "ISQMR" RELATED DEPRECATED [MONDO:Lexical] xref: GARD:17515 {source="MONDO:GARD"} xref: ICD10CM:Q80.8 {source="Orphanet:352333/attributed", source="Orphanet:352333/ntbt", source="Orphanet:352333"} xref: MEDGEN:482486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -315917,10 +315975,10 @@ subset: ordo_disorder {source="Orphanet:293955"} subset: orphanet_rare {source="Orphanet:293955"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "childhood encephalopathy due to thiamine pyrophosphokinase deficiency" EXACT CLINGEN_LABEL [] -synonym: "encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency" RELATED [OMIM:614458] -synonym: "thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" RELATED [MONDO:Lexical, OMIM:614458] -synonym: "THMD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614458] +synonym: "childhood encephalopathy due to thiamine pyrophosphokinase deficiency" EXACT CLINGEN_LABEL [Orphanet:293955] +synonym: "encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency" RELATED [] +synonym: "thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" RELATED [MONDO:Lexical] +synonym: "THMD5" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:13571 {source="MONDO:GARD"} xref: MEDGEN:482496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614458 {source="Orphanet:293955/e", source="MONDO:equivalentTo", source="Orphanet:293955"} @@ -315939,10 +315997,10 @@ subset: ordo_disorder {source="Orphanet:401859"} subset: orphanet_rare {source="Orphanet:401859"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HGCLAS" RELATED ABBREVIATION [OMIM:614462] -synonym: "hyperglycinemia, lactic acidosis, and seizures" RELATED [OMIM:614462] -synonym: "PDHLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614462] -synonym: "pyruvate dehydrogenase lipoic acid synthetase deficiency" RELATED [GARD:0012678, MONDO:Lexical, OMIM:614462] +synonym: "HGCLAS" RELATED ABBREVIATION [] +synonym: "hyperglycinemia, lactic acidosis, and seizures" RELATED [] +synonym: "PDHLD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pyruvate dehydrogenase lipoic acid synthetase deficiency" RELATED [GARD:0012678, MONDO:Lexical] xref: GARD:12678 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:401859", source="Orphanet:401859/attributed", source="Orphanet:401859/ntbt"} xref: MEDGEN:482517 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -315964,11 +316022,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEP41 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS15" EXACT ABBREVIATION [DOID:0110984, MONDO:Lexical, OMIM:614464] -synonym: "Joubert syndrome 12/15, digenic" RELATED [OMIM:614464] -synonym: "Joubert syndrome 15" EXACT [MONDO:Lexical, OMIM:614464] -synonym: "Joubert syndrome 9/15, digenic" RELATED [OMIM:614464] +synonym: "Joubert syndrome 12/15, digenic" RELATED [] +synonym: "Joubert syndrome 15" EXACT [DOID:0110984, MONDO:Lexical, OMIM:614464] +synonym: "Joubert syndrome 9/15, digenic" RELATED [] synonym: "Joubert syndrome caused by mutation in CEP41" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 15" EXACT [DOID:0110984, MONDORULE:2, OMIM:614464] +synonym: "Joubert syndrome type 15" EXACT [MONDORULE:2] xref: DOID:0110984 {source="MONDO:equivalentTo"} xref: GARD:15806 {source="MONDO:GARD"} xref: MEDGEN:482527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -315990,9 +316048,9 @@ subset: gard_rare {source="GARD:15807", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS16" EXACT ABBREVIATION [DOID:0110985, MONDO:Lexical, OMIM:614465] -synonym: "Joubert syndrome 16" EXACT [MONDO:Lexical, OMIM:614465] +synonym: "Joubert syndrome 16" EXACT [DOID:0110985, MONDO:Lexical, OMIM:614465] synonym: "Joubert syndrome caused by mutation in TMEM138" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 16" EXACT [DOID:0110985, MONDORULE:2, OMIM:614465] +synonym: "Joubert syndrome type 16" EXACT [MONDORULE:2] synonym: "TMEM138 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110985 {source="MONDO:equivalentTo"} xref: GARD:15807 {source="MONDO:GARD"} @@ -316011,12 +316069,12 @@ id: MONDO:0013765 name: coronary heart disease, susceptibility to, 6 def: "Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "CHDS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614466] +synonym: "CHDS6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "coronary artery disease caused by mutation in MMP3" EXACT [MONDO:design_pattern] synonym: "coronary heart disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:614466] -synonym: "coronary heart disease, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:614466] +synonym: "coronary heart disease, susceptibility to, type 6" EXACT [MONDORULE:1] synonym: "MMP3 coronary artery disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to coronary heart disease 6" RELATED [OMIM:614466] +synonym: "susceptibility to coronary heart disease 6" RELATED [] xref: MEDGEN:482543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614466 {source="MONDO:equivalentTo"} xref: UMLS:C3280913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482543"} @@ -316034,17 +316092,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:300359"} subset: orphanet_rare {source="Orphanet:300359"} subset: rare -synonym: "antibody deficiency and immune dysregulation, PLCG2-associated" RELATED [OMIM:614468] -synonym: "FACU" EXACT ABBREVIATION [Orphanet:300359] -synonym: "familial atypical cold urticaria" EXACT [OMIM:614468, Orphanet:300359] -synonym: "familial cold autoinflammatory syndrome 3" EXACT [MONDO:Lexical, OMIM:614468] +synonym: "antibody deficiency and immune dysregulation, PLCG2-associated" RELATED [] +synonym: "FACU" EXACT ABBREVIATION [DOID:0090064, Orphanet:300359] +synonym: "familial atypical cold urticaria" EXACT [DOID:0090064, OMIM:614468, Orphanet:300359] +synonym: "familial cold autoinflammatory syndrome 3" EXACT [DOID:0090064, MONDO:Lexical, OMIM:614468] synonym: "familial cold autoinflammatory syndrome caused by mutation in PLCG2" EXACT [MONDO:design_pattern] -synonym: "familial cold autoinflammatory syndrome type 3" EXACT [DOID:0090064, MONDORULE:1, OMIM:614468] +synonym: "familial cold autoinflammatory syndrome type 3" EXACT [MONDORULE:1] synonym: "familial cold urticaria with common variable immunodeficiency" EXACT [Orphanet:300359] -synonym: "FCAS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614468] -synonym: "plaid" EXACT [Orphanet:300359] +synonym: "FCAS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PLAID" EXACT ABBREVIATION [DOID:0090064, Orphanet:300359] +synonym: "plaid" EXACT [] synonym: "PLCG2 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PLCG2-associated antibody deficiency and immune dysregulation" RELATED [Orphanet:300359] +synonym: "PLCG2-associated antibody deficiency and immune dysregulation" RELATED [] xref: DOID:0090064 {source="MONDO:equivalentTo"} xref: GARD:17369 {source="MONDO:GARD"} xref: ICD10CM:L50.2 {source="DOID:0090064", source="Orphanet:300359", source="Orphanet:300359/attributed", source="Orphanet:300359/ntbt"} @@ -316070,18 +316129,18 @@ subset: ordo_disorder {source="Orphanet:268114"} subset: orphanet_rare {source="Orphanet:268114"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALPS type 4" EXACT [DOID:0110117, Orphanet:268114] -synonym: "ALPS type IV" EXACT [DOID:0110117, Orphanet:268114] +synonym: "ALPS type 4" EXACT [DOID:0110117] +synonym: "ALPS type IV" EXACT [DOID:0110117] synonym: "ALPS4" EXACT ABBREVIATION [DOID:0110117] synonym: "autoimmune lymphoproliferative syndrome caused by mutation in NRAS" EXACT [MONDO:design_pattern] -synonym: "autoimmune lymphoproliferative syndrome type 4" EXACT [Orphanet:268114] -synonym: "autoimmune lymphoproliferative syndrome type IV" EXACT [DOID:0110117, Orphanet:268114] -synonym: "autoimmune lymphoproliferative syndrome, type 4" RELATED [OMIM:614470] +synonym: "autoimmune lymphoproliferative syndrome type 4" EXACT [DOID:0110117] +synonym: "autoimmune lymphoproliferative syndrome type IV" EXACT [DOID:0110117] +synonym: "autoimmune lymphoproliferative syndrome, type 4" RELATED [] synonym: "NRAS autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RALD" EXACT ABBREVIATION [DOID:0110117, MONDO:Lexical, OMIM:614470, Orphanet:268114] -synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT [DOID:0110117] +synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT [DOID:0110117, Orphanet:268114] synonym: "RAS-associated autoimmune leukoproliferative disorder" EXACT [DOID:0110117, MONDO:Lexical, OMIM:614470] -synonym: "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" EXACT [OMIM:614470, OMIM:genemap2] +synonym: "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" EXACT [] xref: DOID:0110117 {source="MONDO:equivalentTo"} xref: GARD:17262 {source="MONDO:GARD"} xref: ICD10CM:D72.8 {source="Orphanet:268114/attributed", source="Orphanet:268114/ntbt", source="DOID:0110117", source="Orphanet:268114"} @@ -316106,8 +316165,8 @@ subset: rare synonym: "ABCC6 arterial calcification of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "arterial calcification of infancy caused by mutation in ABCC6" EXACT [MONDO:design_pattern] synonym: "arterial calcification, generalized, of infancy, 2" EXACT [MONDO:Lexical, OMIM:614473] -synonym: "arterial calcification, generalized, of infancy, type 2" EXACT [MONDORULE:1, OMIM:614473] -synonym: "GACI2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614473] +synonym: "arterial calcification, generalized, of infancy, type 2" EXACT [MONDORULE:1] +synonym: "GACI2" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:477791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614473 {source="MONDO:equivalentTo"} xref: Orphanet:51608 {source="OMIM:614473"} @@ -316127,8 +316186,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "atrioventricular septal defect 5" EXACT [MONDO:Lexical, OMIM:614474] synonym: "atrioventricular septal defect caused by mutation in GATA6" EXACT [MONDO:design_pattern] -synonym: "atrioventricular septal defect type 5" EXACT [MONDORULE:1, OMIM:614474] -synonym: "AVSD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614474] +synonym: "atrioventricular septal defect type 5" EXACT [MONDORULE:1] +synonym: "AVSD5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "GATA6 atrioventricular septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:482569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614474 {source="MONDO:equivalentTo"} @@ -316151,9 +316210,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ASD9" EXACT ABBREVIATION [DOID:0110114, MONDO:Lexical, OMIM:614475] synonym: "atrial heart septal defect caused by mutation in GATA6" EXACT [MONDO:design_pattern] -synonym: "atrial heart septal defect type 9" EXACT [DOID:0110114, MONDORULE:1] +synonym: "atrial heart septal defect type 9" EXACT [MONDORULE:1] synonym: "atrial septal defect 9" EXACT [DOID:0110114, MONDO:Lexical, OMIM:614475] -synonym: "atrial septal defect type 9" EXACT [MONDORULE:1, OMIM:614475] +synonym: "atrial septal defect type 9" EXACT [MONDORULE:1] synonym: "GATA6 atrial heart septal defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110114 {source="MONDO:equivalentTo"} xref: ICD10CM:Q21.1 {source="DOID:0110114"} @@ -316177,10 +316236,10 @@ subset: ordo_disorder {source="Orphanet:300293"} subset: orphanet_rare {source="Orphanet:300293"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HTGTI" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614480] -synonym: "hypertriglyceridemia, transient infantile" RELATED [MONDO:Lexical, OMIM:614480] +synonym: "HTGTI" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypertriglyceridemia, transient infantile" RELATED [MONDO:Lexical] synonym: "transient infantile hypertriglyceridemia and fatty liver" EXACT [Orphanet:300293] -synonym: "transient infantile hypertriglyceridemia and hepatosteatosis" EXACT CLINGEN_LABEL [] +synonym: "transient infantile hypertriglyceridemia and hepatosteatosis" EXACT CLINGEN_LABEL [Orphanet:300293] xref: GARD:17363 {source="MONDO:GARD"} xref: MEDGEN:482583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614480 {source="Orphanet:300293/e", source="MONDO:equivalentTo", source="Orphanet:300293"} @@ -316203,10 +316262,10 @@ subset: orphanet_rare {source="Orphanet:300313"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acetyl CoA transporter deficiency" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40097/] -synonym: "CCHLND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614482] +synonym: "CCHLND" RELATED ABBREVIATION [MONDO:Lexical] synonym: "congenital cataract-deafness-severe developmental delay syndrome" EXACT [Orphanet:300313] synonym: "congenital cataracts, hearing loss, and neurodegeneration" EXACT [MONDO:Lexical, OMIM:614482] -synonym: "Huppke-Brendel syndrome" EXACT [OMIM:614482] +synonym: "Huppke-Brendel syndrome" EXACT [OMIM:614482, Orphanet:300313] synonym: "lethal neurodegenerative disorder due to copper transport defect" EXACT [Orphanet:300313] xref: GARD:17365 {source="MONDO:GARD"} xref: MEDGEN:1659966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -316226,12 +316285,12 @@ def: "Any porencephaly in which the cause of the disease is a mutation in the CO subset: gard_rare {source="GARD:15808", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "brain small vessel disease 2" EXACT [OMIM:614483, OMIM:genemap2] +synonym: "brain small vessel disease 2" EXACT [DOID:0112314, OMIM:614483] synonym: "COL4A2 porencephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "POREN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614483] -synonym: "porencephaly 2" EXACT [MONDO:Lexical, OMIM:614483] +synonym: "POREN2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "porencephaly 2" EXACT [DOID:0112314, MONDO:Lexical] synonym: "porencephaly caused by mutation in COL4A2" EXACT [MONDO:design_pattern] -synonym: "porencephaly type 2" EXACT [MONDORULE:1, OMIM:614483] +synonym: "porencephaly type 2" EXACT [MONDORULE:1] xref: DOID:0112314 {source="MONDO:equivalentTo"} xref: GARD:15808 {source="MONDO:GARD"} xref: MEDGEN:482600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -316252,12 +316311,12 @@ def: "Any isolated trigonocephaly in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:18559", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "craniosynostosis, metopic" RELATED [OMIM:614485] +synonym: "craniosynostosis, metopic" RELATED [] synonym: "FREM1 isolated trigonocephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "isolated trigonocephaly caused by mutation in FREM1" EXACT [MONDO:design_pattern] -synonym: "TRIGNO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614485] +synonym: "TRIGNO2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "trigonocephaly 2" EXACT [MONDO:Lexical, OMIM:614485] -synonym: "trigonocephaly type 2" EXACT [MONDORULE:1, OMIM:614485] +synonym: "trigonocephaly type 2" EXACT [MONDORULE:1] xref: GARD:18559 {source="MONDO:GARD"} xref: MEDGEN:482604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614485 {source="MONDO:equivalentTo"} @@ -316279,12 +316338,12 @@ subset: ordo_disorder {source="Orphanet:436169"} subset: orphanet_rare {source="Orphanet:436169"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "THBD-related bleeding disorder" EXACT [Orphanet:436169] -synonym: "THBD-related coagulopathy" EXACT [Orphanet:436169] -synonym: "THPH12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614486] -synonym: "thrombomodulin-related coagulopathy" EXACT [Orphanet:436169] -synonym: "thrombophilia 12 due to thrombomodulin defect" EXACT [OMIM:614486, OMIM:genemap2] -synonym: "thrombophilia due to thrombomodulin defect" RELATED [MONDO:Lexical, OMIM:614486] +synonym: "THBD-related bleeding disorder" EXACT [DOID:0111908, Orphanet:436169] +synonym: "THBD-related coagulopathy" EXACT [DOID:0111908, Orphanet:436169] +synonym: "THPH12" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thrombomodulin-related coagulopathy" EXACT [DOID:0111908, Orphanet:436169] +synonym: "thrombophilia 12 due to thrombomodulin defect" EXACT [] +synonym: "thrombophilia due to thrombomodulin defect" RELATED [MONDO:Lexical] xref: DOID:0111908 {source="MONDO:equivalentTo"} xref: GARD:17726 {source="MONDO:GARD"} xref: ICD10CM:D68.3 {source="Orphanet:436169/attributed", source="Orphanet:436169/ntbt", source="Orphanet:436169"} @@ -316312,12 +316371,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AFG3L2 autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome" EXACT [Orphanet:313772] -synonym: "AFG3L2-related spastic ataxia-neuropathy syndrome" EXACT [Orphanet:313772] +synonym: "AFG3L2-related spastic ataxia-neuropathy syndrome" EXACT [] synonym: "autosomal recessive spastic ataxia caused by mutation in AFG3L2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic ataxia type 5" EXACT [Orphanet:313772] -synonym: "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" RELATED [Orphanet:313772] -synonym: "spastic ataxia 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614487] -synonym: "spastic ataxia type 5" EXACT [DOID:0050944, MONDORULE:1] +synonym: "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" RELATED [] +synonym: "spastic ataxia 5, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "spastic ataxia type 5" EXACT [MONDORULE:1] synonym: "SPAX5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614487, Orphanet:313772] xref: DOID:0050944 {source="MONDO:equivalentTo"} xref: GARD:17409 {source="MONDO:GARD"} @@ -316345,8 +316404,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "PHA2B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614491, Orphanet:88939] synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK4" EXACT [MONDO:design_pattern] -synonym: "pseudohypoaldosteronism, type 2B" RELATED [OMIM:614491] -synonym: "pseudohypoaldosteronism, type IIB" RELATED [MONDO:Lexical, OMIM:614491] +synonym: "pseudohypoaldosteronism, type 2B" RELATED [] +synonym: "pseudohypoaldosteronism, type IIB" RELATED [MONDO:Lexical] synonym: "WNK4 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16776 {source="MONDO:GARD"} xref: ICD10CM:I15.1 {source="Orphanet:88939", source="Orphanet:88939/attributed", source="Orphanet:88939/ntbt"} @@ -316374,8 +316433,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "PHA2C" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614492, Orphanet:88940] synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK1" EXACT [MONDO:design_pattern] -synonym: "pseudohypoaldosteronism, type 2C" RELATED [OMIM:614492] -synonym: "pseudohypoaldosteronism, type IIC" RELATED [MONDO:Lexical, OMIM:614492] +synonym: "pseudohypoaldosteronism, type 2C" RELATED [] +synonym: "pseudohypoaldosteronism, type IIC" RELATED [MONDO:Lexical] synonym: "WNK1 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16777 {source="MONDO:GARD"} xref: ICD10CM:I15.1 {source="Orphanet:88940", source="Orphanet:88940/attributed", source="Orphanet:88940/ntbt"} @@ -316398,12 +316457,12 @@ def: "Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutati subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15809", source="MONDO:GARD"} subset: rare -synonym: "WAS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614493] -synonym: "Wipf1 deficiency" RELATED [OMIM:614493] +synonym: "WAS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Wipf1 deficiency" RELATED [] synonym: "WIPF1 Wiskott-Aldrich syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Wiskott-Aldrich syndrome 2" EXACT [MONDO:Lexical, OMIM:614493] +synonym: "Wiskott-Aldrich syndrome 2" EXACT [MONDO:Lexical, NCIT:C176820, OMIM:614493] synonym: "Wiskott-Aldrich syndrome caused by mutation in WIPF1" EXACT [MONDO:design_pattern] -synonym: "Wiskott-Aldrich syndrome type 2" EXACT [MONDORULE:1, OMIM:614493] +synonym: "Wiskott-Aldrich syndrome type 2" EXACT [MONDORULE:1] xref: GARD:15809 {source="MONDO:GARD"} xref: MEDGEN:482631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C176820 {source="MONDO:equivalentTo"} @@ -316422,8 +316481,8 @@ def: "A retinitis pigmentosa that has material basis in variation in the chromos subset: gard_rare {source="GARD:15810", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 63" EXACT [MONDO:Lexical, OMIM:614494] -synonym: "retinitis pigmentosa type 63" EXACT [DOID:0110385, MONDORULE:2] +synonym: "retinitis pigmentosa 63" EXACT [DOID:0110385, MONDO:Lexical, OMIM:614494] +synonym: "retinitis pigmentosa type 63" EXACT [MONDORULE:2] synonym: "RP63" EXACT ABBREVIATION [DOID:0110385, MONDO:Lexical, OMIM:614494] xref: DOID:0110385 {source="MONDO:equivalentTo"} xref: GARD:15810 {source="MONDO:GARD"} @@ -316444,12 +316503,12 @@ subset: ordo_etiological_subtype {source="Orphanet:300525"} subset: ordo_subtype_of_a_disorder {source="Orphanet:300525"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial hyperkalemic hypertension" RELATED [OMIM:614495] +synonym: "familial hyperkalemic hypertension" RELATED [] synonym: "KLHL3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PHA2D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614495, Orphanet:300525] synonym: "pseudohypoaldosteronism type 2 caused by mutation in KLHL3" EXACT [MONDO:design_pattern] -synonym: "pseudohypoaldosteronism, type 2D" RELATED [OMIM:614495] -synonym: "pseudohypoaldosteronism, type IID" RELATED [MONDO:Lexical, OMIM:614495] +synonym: "pseudohypoaldosteronism, type 2D" RELATED [] +synonym: "pseudohypoaldosteronism, type IID" RELATED [MONDO:Lexical] xref: GARD:17372 {source="MONDO:GARD"} xref: ICD10CM:I15.1 {source="Orphanet:300525", source="Orphanet:300525/attributed", source="Orphanet:300525/ntbt"} xref: icd11.foundation:1679339588 {source="MONDO:equivalentTo"} @@ -316479,8 +316538,8 @@ synonym: "Cul3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern] synonym: "PHA2E" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614496, Orphanet:300530] synonym: "pseudohypoaldosteronism type 2 caused by mutation in CUL3" EXACT [] synonym: "pseudohypoaldosteronism type 2 caused by mutation in Cul3" EXACT [MONDO:design_pattern] -synonym: "pseudohypoaldosteronism, type 2E" RELATED [OMIM:614496] -synonym: "pseudohypoaldosteronism, type IIE" RELATED [MONDO:Lexical, OMIM:614496] +synonym: "pseudohypoaldosteronism, type 2E" RELATED [] +synonym: "pseudohypoaldosteronism, type IIE" RELATED [MONDO:Lexical] xref: GARD:17373 {source="MONDO:GARD"} xref: ICD10CM:I15.1 {source="Orphanet:300530", source="Orphanet:300530/attributed", source="Orphanet:300530/ntbt"} xref: icd11.foundation:1263491925 {source="MONDO:equivalentTo"} @@ -316503,10 +316562,10 @@ subset: gard_rare {source="GARD:15811", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ABCB6 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MCOPCB7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614497] -synonym: "microphthalmia, isolated, with coloboma 7" EXACT [MONDO:Lexical, OMIM:614497] +synonym: "MCOPCB7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microphthalmia, isolated, with coloboma 7" EXACT [MONDO:Lexical] synonym: "microphthalmia, isolated, with coloboma caused by mutation in ABCB6" EXACT [MONDO:design_pattern] -synonym: "microphthalmia, isolated, with coloboma type 7" EXACT [MONDORULE:1, OMIM:614497] +synonym: "microphthalmia, isolated, with coloboma type 7" EXACT [MONDORULE:1] xref: GARD:15811 {source="MONDO:GARD"} xref: MEDGEN:482657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614497 {source="MONDO:equivalentTo"} @@ -316532,8 +316591,8 @@ subset: rare synonym: "lethal neonatal rigidity-multifocal seizure syndrome" EXACT [Orphanet:435845] synonym: "lethal neonatal spasticity-epileptic encephalopathy syndrome" EXACT [Orphanet:435845] synonym: "neonatal-onset encephalopathy with rigidity and seizures" EXACT CLINGEN_LABEL [] -synonym: "rigidity and multifocal seizure syndrome, lethal neonatal" RELATED [MONDO:Lexical, OMIM:614498] -synonym: "RMFSL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614498] +synonym: "rigidity and multifocal seizure syndrome, lethal neonatal" RELATED [MONDO:Lexical] +synonym: "RMFSL" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17718 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:435845/attributed", source="Orphanet:435845/ntbt", source="Orphanet:435845"} xref: MEDGEN:482659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -316555,14 +316614,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD" EXACT [MONDO:design_pattern] synonym: "CRADD autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly" EXACT [OMIM:614499, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 34" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614499] -synonym: "intellectual disability, autosomal recessive 34, with variant lissencephaly" RELATED [OMIM:614499] -synonym: "intellectual disability, autosomal recessive type 34" EXACT [MONDORULE:2, OMIM:614499] -synonym: "mental retardation, autosomal recessive 34" RELATED DEPRECATED [MONDO:Lexical, OMIM:614499] -synonym: "mental retardation, autosomal recessive 34, with variant lissencephaly" RELATED DEPRECATED [OMIM:614499] -synonym: "mental retardation, autosomal recessive type 34" EXACT DEPRECATED [MONDORULE:2, OMIM:614499] -synonym: "MRT34" RELATED DEPRECATED [MONDO:Lexical, OMIM:614499] +synonym: "intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly" EXACT [OMIM:614499] +synonym: "intellectual disability, autosomal recessive 34" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive 34, with variant lissencephaly" RELATED [] +synonym: "intellectual disability, autosomal recessive type 34" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 34" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 34, with variant lissencephaly" RELATED DEPRECATED [] +synonym: "mental retardation, autosomal recessive type 34" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT34" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081200 {source="MONDO:equivalentTo"} xref: GARD:22563 {source="MONDO:GARD"} xref: MEDGEN:482674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -316583,12 +316642,12 @@ subset: gard_rare {source="GARD:15812", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "C8orf37 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cone-rod dystrophy 16" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614500] +synonym: "cone-rod dystrophy 16" EXACT CLINGEN_LABEL [DOID:0111022, MONDO:Lexical, OMIM:614500] synonym: "cone-rod dystrophy caused by mutation in C8orf37" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 16" EXACT [DOID:0111022, MONDORULE:2, OMIM:614500] +synonym: "cone-rod dystrophy type 16" EXACT [MONDORULE:2] synonym: "CORD16" EXACT ABBREVIATION [DOID:0111022, MONDO:Lexical, OMIM:614500] -synonym: "retinal dystrophy with early macular involvement" EXACT [DOID:0111022] -synonym: "retinitis pigmentosa 64" RELATED [OMIM:614500] +synonym: "retinal dystrophy with early macular involvement" EXACT [DOID:0111022, OMIM:614500] +synonym: "retinitis pigmentosa 64" RELATED [] xref: DOID:0111022 {source="MONDO:equivalentTo"} xref: GARD:15812 {source="MONDO:GARD"} xref: MEDGEN:482675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -316603,8 +316662,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013787 name: psychomotor retardation, epilepsy, and craniofacial dysmorphism -synonym: "neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures" EXACT [OMIM:614501, OMIM:genemap2] -synonym: "PMRED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614501] +synonym: "neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures" EXACT [OMIM:614501] +synonym: "PMRED" RELATED ABBREVIATION [MONDO:Lexical] synonym: "psychomotor retardation, epilepsy, and craniofacial dysmorphism" EXACT [MONDO:Lexical, OMIM:614501] xref: MEDGEN:482685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614501 {source="MONDO:equivalentTo"} @@ -316624,8 +316683,8 @@ synonym: "HARS Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disea synonym: "USH3B" EXACT ABBREVIATION [DOID:0110842, MONDO:Lexical, OMIM:614504] synonym: "Usher syndrome caused by mutation in HARS" EXACT [MONDO:design_pattern] synonym: "Usher syndrome type IIIB" EXACT [DOID:0110842] -synonym: "Usher syndrome, type 3B" RELATED [OMIM:614504] -synonym: "USHER syndrome, type IIIB" RELATED [MONDO:Lexical, OMIM:614504] +synonym: "Usher syndrome, type 3B" RELATED [] +synonym: "USHER syndrome, type IIIB" RELATED [MONDO:Lexical] xref: DOID:0110842 {source="MONDO:equivalentTo"} xref: GARD:15813 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="DOID:0110842", source="MONDO:relatedTo"} @@ -316658,7 +316717,7 @@ synonym: "CDG-Ir" EXACT [Orphanet:300536] synonym: "CDG1R" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614507, Orphanet:300536] synonym: "congenital disorder of glycosylation type 1r" EXACT [Orphanet:300536] synonym: "congenital disorder of glycosylation type Ir" EXACT [Orphanet:300536] -synonym: "congenital disorder of glycosylation, type Ir" RELATED [MONDO:Lexical, OMIM:614507] +synonym: "congenital disorder of glycosylation, type Ir" RELATED [MONDO:Lexical] synonym: "DDOST-CDG" EXACT ABBREVIATION [Orphanet:300536] synonym: "DDOST-CDG (CDG-Ir)" RELATED [GARD:0012398] synonym: "DDOST-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] @@ -316686,8 +316745,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "familial congenital mirror movements caused by mutation in RAD51" EXACT [MONDO:design_pattern] synonym: "mirror movements 2" EXACT [MONDO:Lexical, OMIM:614508] -synonym: "mirror movements type 2" EXACT [MONDORULE:1, OMIM:614508] -synonym: "MRMV2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614508] +synonym: "mirror movements type 2" EXACT [MONDORULE:1] +synonym: "MRMV2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "RAD51 familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15814 {source="MONDO:GARD"} xref: MEDGEN:482719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -316705,9 +316764,9 @@ name: thrombophilia due to protein S deficiency, autosomal recessive subset: gard_rare {source="GARD:18569", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "THPH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614514] -synonym: "thrombophilia 5 due to protein S deficiency, autosomal recessive" EXACT [OMIM:614514, OMIM:genemap2] -synonym: "thrombophilia due to PROTEIN S deficiency, autosomal recessive" RELATED [OMIM:614514] +synonym: "THPH6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "thrombophilia 5 due to protein S deficiency, autosomal recessive" EXACT [] +synonym: "thrombophilia due to PROTEIN S deficiency, autosomal recessive" RELATED [] synonym: "thrombophilia due to protein S deficiency, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614514] xref: GARD:18569 {source="MONDO:GARD"} xref: MEDGEN:482722 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -316724,7 +316783,7 @@ id: MONDO:0013792 name: intracerebral hemorrhage def: "Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma." [MESH:D002543] subset: otar {source="MONDO:OTAR"} -synonym: "stroke, hemorrhagic" EXACT [OMIM:614519, OMIM:genemap2] +synonym: "stroke, hemorrhagic" EXACT [] xref: EFO:0005669 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD9:431 {source="EFO:0005669"} xref: MEDGEN:423648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -316754,11 +316813,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "familial thrombocytosis caused by mutation in JAK2" EXACT [MONDO:design_pattern] synonym: "JAK2 familial thrombocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "THCYT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614521] +synonym: "THCYT3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "thrombocythemia 3" EXACT [MONDO:Lexical, OMIM:614521] -synonym: "thrombocythemia 3, autosomal dominant, somatic mutation" EXACT [OMIM:614521, OMIM:genemap2] -synonym: "thrombocythemia type 3" EXACT [MONDORULE:1, OMIM:614521] -synonym: "thrombocytosis 3" RELATED [OMIM:614521] +synonym: "thrombocythemia 3, autosomal dominant, somatic mutation" EXACT [] +synonym: "thrombocythemia type 3" EXACT [MONDORULE:1] +synonym: "thrombocytosis 3" RELATED [] xref: MEDGEN:482755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614521 {source="MONDO:equivalentTo"} xref: Orphanet:3318 {source="OMIM:614521"} @@ -316779,10 +316838,10 @@ subset: gard_rare {source="GARD:15815", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "COL11A2 fibrochondrogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "FBCG2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614524] -synonym: "fibrochondrogenesis 2" EXACT [MONDO:Lexical, OMIM:614524] +synonym: "FBCG2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "fibrochondrogenesis 2" EXACT [DOID:0080673, MONDO:Lexical, OMIM:614524] synonym: "fibrochondrogenesis caused by mutation in COL11A2" EXACT [MONDO:design_pattern] -synonym: "fibrochondrogenesis type 2" EXACT [MONDORULE:1, OMIM:614524] +synonym: "fibrochondrogenesis type 2" EXACT [MONDORULE:1] xref: DOID:0080673 {source="MONDO:equivalentTo"} xref: GARD:15815 {source="MONDO:GARD"} xref: MEDGEN:482758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -316808,8 +316867,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "17q12 duplication" RELATED [GARD:0013296] synonym: "17q12 microduplication" RELATED [GARD:0013296] -synonym: "17q12 microduplication syndrome" EXACT [DOID:0060433] -synonym: "chromosome 17q12 duplication syndrome" EXACT [OMIM:614526] +synonym: "17q12 microduplication syndrome" EXACT [DOID:0060433, Orphanet:261272] +synonym: "chromosome 17q12 duplication syndrome" EXACT [DOID:0060433, OMIM:614526] synonym: "dup(17)(q12)" EXACT [Orphanet:261272] synonym: "recurrent duplication of 17q12" RELATED [GARD:0013296] synonym: "trisomy 17q12" EXACT [DOID:0060433, Orphanet:261272] @@ -316838,9 +316897,9 @@ subset: orphanet_rare {source="Orphanet:261265"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "17q12 deletion syndrome" RELATED [GARD:0013297] -synonym: "17q12 microdeletion syndrome" EXACT [DOID:0060404] +synonym: "17q12 microdeletion syndrome" EXACT [DOID:0060404, Orphanet:261265] synonym: "17q12 recurrent deletion syndrome" RELATED [GARD:0013297] -synonym: "chromosome 17q12 deletion syndrome" EXACT [OMIM:614527] +synonym: "chromosome 17q12 deletion syndrome" EXACT [DOID:0060404, OMIM:614527] synonym: "Del(17)(q12)" EXACT [Orphanet:261265] synonym: "monosomy 17q12" EXACT [Orphanet:261265] xref: DOID:0060404 {source="MONDO:equivalentTo"} @@ -316865,8 +316924,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:658540"} subset: orphanet_rare {source="Orphanet:658540"} subset: rare -synonym: "chromosome 16q22 deletion syndrome" EXACT [OMIM:614541] -synonym: "chromosome 16q22 deletion syndrome, isolated cases" EXACT [OMIM:614541, OMIM:genemap2] +synonym: "chromosome 16q22 deletion syndrome" EXACT [DOID:0060401, OMIM:614541] +synonym: "chromosome 16q22 deletion syndrome, isolated cases" EXACT [] xref: DOID:0060401 {source="MONDO:equivalentTo"} xref: MEDGEN:482782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614541 {source="MONDO:equivalentTo", source="DOID:0060401"} @@ -316884,8 +316943,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013799 name: obsolete efavirenz, poor metabolism of comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "efavirenz central nervous system toxicity, susceptibility to" RELATED [OMIM:614546] -synonym: "efavirenz, poor metabolism of" EXACT [OMIM:614546] +synonym: "efavirenz central nervous system toxicity, susceptibility to" RELATED [] +synonym: "efavirenz, poor metabolism of" EXACT [] xref: OMIM:614546 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:240869 {source="OMIM:614546"} property_value: IAO:0000231 OMO:0001000 @@ -316901,15 +316960,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:300179"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EDS with progressive kyphoscoliosis, myopathy, and deafness" EXACT [Orphanet:300179] -synonym: "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [Orphanet:300179] -synonym: "EDS, kyphoscoliotic and hearing loss type" EXACT [Orphanet:300179] -synonym: "EDSKMH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614557] -synonym: "EDSKSCL2" RELATED ABBREVIATION [OMIM:614557] -synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" EXACT [Orphanet:300179] -synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [MONDO:Lexical, OMIM:614557, Orphanet:300179] +synonym: "EDS with progressive kyphoscoliosis, myopathy, and deafness" EXACT [] +synonym: "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [] +synonym: "EDS, kyphoscoliotic and hearing loss type" EXACT [] +synonym: "EDSKMH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "EDSKSCL2" RELATED ABBREVIATION [] +synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" EXACT [] +synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [MONDO:Lexical, OMIM:614557] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" EXACT CLINGEN_LABEL [] -synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" EXACT [Orphanet:300179] +synonym: "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" EXACT [] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 2" EXACT [OMIM:614557] xref: GARD:17361 {source="MONDO:GARD"} xref: ICD10CM:Q79.6 {source="Orphanet:300179/attributed", source="Orphanet:300179/ntbt", source="Orphanet:300179"} @@ -316931,13 +316990,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:13085", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE13" EXACT ABBREVIATION [OMIM:614558] -synonym: "developmental and epileptic encephalopathy 13" EXACT [OMIM:614558, OMIM:genemap2] +synonym: "DEE13" EXACT ABBREVIATION [DOID:0080445, OMIM:614558] +synonym: "developmental and epileptic encephalopathy 13" EXACT [DOID:0080445, OMIM:614558] synonym: "early infantile epileptic encephalopathy caused by mutation in SCN8A" EXACT [MONDO:design_pattern] synonym: "early infantile epileptic encephalopathy-13" EXACT [GARD:0013085] -synonym: "EIEE13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614558] +synonym: "EIEE13" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 13" EXACT [MONDO:Lexical, OMIM:614558] -synonym: "epileptic encephalopathy, early infantile, type 13" EXACT [MONDORULE:2, OMIM:614558] +synonym: "epileptic encephalopathy, early infantile, type 13" EXACT [MONDORULE:2] synonym: "SCN8A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCN8A encephalopathy" RELATED [GARD:0013085] synonym: "SCN8A epilepsy" RELATED [GARD:0013085] @@ -316964,9 +317023,9 @@ subset: ordo_disorder {source="Orphanet:313850"} subset: orphanet_rare {source="Orphanet:313850"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ICRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614559] +synonym: "ICRD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "infantile cerebellar retinal degeneration" RELATED [GARD:0013264] -synonym: "infantile cerebellar-retinal degeneration" EXACT [MONDO:Lexical, OMIM:614559] +synonym: "infantile cerebellar-retinal degeneration" EXACT [DOID:0050883, MONDO:Lexical, OMIM:614559, Orphanet:313850] xref: DOID:0050883 {source="MONDO:equivalentTo"} xref: GARD:13264 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:313850", source="Orphanet:313850/attributed", source="Orphanet:313850/ntbt"} @@ -316988,8 +317047,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:542310"} subset: orphanet_rare {source="Orphanet:542310"} subset: rare -synonym: "Labrune syndrome" RELATED [OMIM:614561] -synonym: "LCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614561] +synonym: "Labrune syndrome" RELATED [] +synonym: "LCC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614561, Orphanet:542310] synonym: "leukoencephalopathy, brain calcifications, and cysts" EXACT [MONDO:Lexical, OMIM:614561] xref: GARD:10732 {source="MONDO:GARD"} xref: MEDGEN:482830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -317016,20 +317075,20 @@ def: "Any autosomal dominant non-syndromic intellectual disability in which the subset: gard_rare {source="GARD:16462", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 13" EXACT [DOID:0070043] +synonym: "autosomal dominant intellectual disability 13" EXACT [] synonym: "autosomal dominant mental retardation 13" EXACT DEPRECATED [DOID:0070043] -synonym: "autosomal dominant non-syndromic intellectual disability 13" RELATED [DOID:0070043] +synonym: "autosomal dominant non-syndromic intellectual disability 13" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1" EXACT [MONDO:design_pattern] synonym: "DYNC1H1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal dominant 13" EXACT [MONDO:Lexical, OMIM:614563] -synonym: "intellectual disability, autosomal dominant 13, with neuronal migration defects" EXACT [DOID:0070043] -synonym: "intellectual disability, autosomal dominant type 13" EXACT [MONDORULE:2, OMIM:614563] -synonym: "intellectual disability, autosomal dominant, 13, with neuronal migration defects" RELATED [OMIM:614563] -synonym: "mental retardation, autosomal dominant 13" RELATED DEPRECATED [MONDO:Lexical, OMIM:614563] +synonym: "intellectual disability, autosomal dominant 13" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant 13, with neuronal migration defects" EXACT [] +synonym: "intellectual disability, autosomal dominant type 13" EXACT [MONDORULE:2] +synonym: "intellectual disability, autosomal dominant, 13, with neuronal migration defects" RELATED [] +synonym: "mental retardation, autosomal dominant 13" RELATED DEPRECATED [MONDO:Lexical] synonym: "mental retardation, autosomal dominant 13, with neuronal migration defects" EXACT DEPRECATED [DOID:0070043] -synonym: "mental retardation, autosomal dominant type 13" EXACT DEPRECATED [MONDORULE:2, OMIM:614563] -synonym: "mental retardation, autosomal dominant, 13, with neuronal migration defects" RELATED DEPRECATED [OMIM:614563] -synonym: "MRD13" EXACT ABBREVIATION [DOID:0070043, MONDO:Lexical, OMIM:614563] +synonym: "mental retardation, autosomal dominant type 13" EXACT DEPRECATED [MONDORULE:2] +synonym: "mental retardation, autosomal dominant, 13, with neuronal migration defects" RELATED DEPRECATED [] +synonym: "MRD13" EXACT ABBREVIATION [DOID:0070043, MONDO:Lexical] xref: DOID:0070043 {source="MONDO:equivalentTo"} xref: GARD:16462 {source="MONDO:GARD"} xref: MEDGEN:482832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -317052,11 +317111,11 @@ subset: ordo_disorder {source="Orphanet:313846"} subset: orphanet_rare {source="Orphanet:313846"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cutaneous telangiectasia and cancer syndrome, familial" RELATED [MONDO:Lexical, OMIM:614564] -synonym: "familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome" RELATED [Orphanet:313846] +synonym: "cutaneous telangiectasia and cancer syndrome, familial" RELATED [MONDO:Lexical] +synonym: "familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome" RELATED [] synonym: "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" EXACT CLINGEN_LABEL [] -synonym: "FCTCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614564] -synonym: "telangiectasia, cutaneous, and cancer syndrome, familial" RELATED [OMIM:614564] +synonym: "FCTCS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "telangiectasia, cutaneous, and cancer syndrome, familial" RELATED [] xref: GARD:17413 {source="MONDO:GARD"} xref: MEDGEN:482833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614564 {source="MONDO:equivalentTo", source="Orphanet:313846", source="Orphanet:313846/e"} @@ -317072,15 +317131,15 @@ name: congenital stationary night blindness 1E def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15816", source="MONDO:GARD"} subset: rare -synonym: "congenital stationary night blindness 1E" EXACT CLINGEN_LABEL [] +synonym: "congenital stationary night blindness 1E" EXACT CLINGEN_LABEL [DOID:0110869] synonym: "congenital stationary night blindness 1E autosomal recessive" EXACT [DOID:0110869] synonym: "congenital stationary night blindness caused by mutation in GPR179" EXACT [MONDO:design_pattern] -synonym: "congenital stationary night blindness type 1E" EXACT [DOID:0110869, MONDORULE:4] -synonym: "Csnb, complete, autosomal recessive" RELATED [OMIM:614565] +synonym: "congenital stationary night blindness type 1E" EXACT [MONDORULE:4] +synonym: "Csnb, complete, autosomal recessive" RELATED [] synonym: "CSNB1E" EXACT ABBREVIATION [DOID:0110869, MONDO:Lexical, OMIM:614565] synonym: "GPR179 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "night blindness, congenital stationary (complete), 1E, autosomal recessive" EXACT [OMIM:614565, OMIM:genemap2] -synonym: "night blindness, congenital stationary, type 1E" RELATED [MONDO:Lexical, OMIM:614565] +synonym: "night blindness, congenital stationary (complete), 1E, autosomal recessive" EXACT [] +synonym: "night blindness, congenital stationary, type 1E" RELATED [MONDO:Lexical] xref: DOID:0110869 {source="MONDO:equivalentTo"} xref: GARD:15816 {source="MONDO:GARD"} xref: MEDGEN:482845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -317114,11 +317173,11 @@ synonym: "enchondromatosis with multiple cavernous hemangiomas" RELATED [GARD:00 synonym: "hemangiomata with Dyschondroplasia" EXACT [NCIT:C3213] synonym: "hemangiomatosis Chondrodystrophica" RELATED [GARD:0006958] synonym: "Kast syndrome" RELATED [GARD:0006958] -synonym: "Maffucci syndrome" EXACT [OMIM:614569] +synonym: "Maffucci syndrome" EXACT [DOID:0060221, icd11.foundation:548780091, NCIT:C3213, OMIM:614569, Orphanet:163634] synonym: "Maffucci type enchondromatosis" EXACT [https://orcid.org/0000-0002-3302-4610] synonym: "Maffucci's anomalad" EXACT [NCIT:C3213] synonym: "multiple Angiomas and Endochondromas" RELATED [GARD:0006958] -synonym: "multiple enchondromatosis, Maffucci type" RELATED [OMIM:614569] +synonym: "multiple enchondromatosis, Maffucci type" RELATED [] xref: DOID:0060221 {source="MONDO:equivalentTo"} xref: GARD:6958 {source="MONDO:GARD"} xref: ICD10CM:Q78.4 {source="DOID:0060221", source="Orphanet:163634/inclusion", source="Orphanet:163634", source="Orphanet:163634/ntbt"} @@ -317156,17 +317215,17 @@ subset: ordo_disorder {source="Orphanet:464443"} subset: orphanet_rare {source="Orphanet:464443"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDG IIL" RELATED [OMIM:614576] -synonym: "CDG syndrome type IIL" EXACT [Orphanet:464443] -synonym: "CDG-IIL" EXACT [Orphanet:464443] -synonym: "CDG2L" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614576, Orphanet:464443] +synonym: "CDG IIL" RELATED [] +synonym: "CDG syndrome type IIL" EXACT [DOID:0070264, Orphanet:464443] +synonym: "CDG-IIL" EXACT ABBREVIATION [Orphanet:464443] +synonym: "CDG2L" EXACT ABBREVIATION [DOID:0070264, MONDO:Lexical, OMIM:614576, Orphanet:464443] synonym: "CDGIIl" RELATED [GARD:0010944] -synonym: "COG6-CDG" EXACT ABBREVIATION [Orphanet:464443] +synonym: "COG6-CDG" EXACT ABBREVIATION [] synonym: "COG6-CDG (CDG-IIL)" RELATED [GARD:0010944] synonym: "COG6-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] -synonym: "congenital disorder of glycosylation type 2l" EXACT [Orphanet:464443] -synonym: "congenital disorder of glycosylation type IIL" EXACT [Orphanet:464443] -synonym: "congenital disorder of glycosylation, type IIL" RELATED [MONDO:Lexical, OMIM:614576] +synonym: "congenital disorder of glycosylation type 2l" EXACT [DOID:0070264, Orphanet:464443] +synonym: "congenital disorder of glycosylation type IIL" EXACT [DOID:0070264, Orphanet:464443] +synonym: "congenital disorder of glycosylation, type IIL" RELATED [MONDO:Lexical] xref: DOID:0070264 {source="MONDO:equivalentTo"} xref: GARD:10944 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:464443", source="Orphanet:464443/attributed", source="Orphanet:464443/ntbt"} @@ -317191,10 +317250,10 @@ subset: ordo_disorder {source="Orphanet:319509"} subset: orphanet_rare {source="Orphanet:319509"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 9" RELATED [MONDO:Lexical, OMIM:614582] +synonym: "combined oxidative phosphorylation deficiency 9" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPL3" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 9" EXACT [MONDORULE:1, OMIM:614582] -synonym: "COXPD9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614582, Orphanet:319509] +synonym: "combined oxidative phosphorylation deficiency type 9" EXACT [MONDORULE:1] +synonym: "COXPD9" EXACT ABBREVIATION [DOID:0111472, MONDO:Lexical, OMIM:614582, Orphanet:319509] synonym: "MRPL3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111472 {source="MONDO:equivalentTo"} xref: GARD:17453 {source="MONDO:GARD"} @@ -317219,10 +317278,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ACTG1 Baraitser-Winter cerebrofrontofacial syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1" EXACT [MONDO:design_pattern] -synonym: "Baraitser-WINTER syndrome 2" RELATED [OMIM:614583] -synonym: "Baraitser-winter syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614583] -synonym: "Baraitser-Winter syndrome type 2" EXACT [MONDORULE:1, OMIM:614583] -synonym: "BRWS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614583] +synonym: "Baraitser-WINTER syndrome 2" RELATED [] +synonym: "Baraitser-winter syndrome 2" EXACT CLINGEN_LABEL [DOID:0081113, MONDO:Lexical, OMIM:614583] +synonym: "Baraitser-Winter syndrome type 2" EXACT [MONDORULE:1] +synonym: "BRWS2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081113 {source="MONDO:equivalentTo"} xref: GARD:15817 {source="MONDO:GARD"} xref: MEDGEN:482865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -317245,10 +317304,10 @@ subset: ordo_disorder {source="Orphanet:306734"} subset: orphanet_rare {source="Orphanet:306734"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dystonia 21" EXACT [MONDO:Lexical, OMIM:614588] -synonym: "dystonia type 21" EXACT [DOID:0090046, MONDORULE:2] +synonym: "dystonia 21" EXACT [DOID:0090046, MONDO:Lexical, OMIM:614588] +synonym: "dystonia type 21" EXACT [MONDORULE:2] synonym: "DYT21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614588, Orphanet:306734] -synonym: "primary dystonia, DYT21 type" RELATED [Orphanet:306734] +synonym: "primary dystonia, DYT21 type" RELATED [] xref: DOID:0090046 {source="MONDO:equivalentTo"} xref: GARD:17383 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="Orphanet:306734", source="Orphanet:306734/attributed", source="Orphanet:306734/ntbt", source="DOID:0090046"} @@ -317262,9 +317321,9 @@ is_a: MONDO:0044807 {source="DOID:0090046", source="MONDO:Redundant", source="OM [Term] id: MONDO:0013814 name: podoconiosis, susceptibility to -synonym: "endemic Nonfilarial elephantiasis, susceptibility to" RELATED [OMIM:614590] -synonym: "lymphostatic verrucosis, susceptibility to" RELATED [OMIM:614590] -synonym: "Nonfilarial elephantiasis of Lower legs, susceptibility to" RELATED [OMIM:614590] +synonym: "endemic Nonfilarial elephantiasis, susceptibility to" RELATED [] +synonym: "lymphostatic verrucosis, susceptibility to" RELATED [] +synonym: "Nonfilarial elephantiasis of Lower legs, susceptibility to" RELATED [] synonym: "PDCOS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614590] synonym: "podoconiosis, susceptibility to" EXACT [MONDO:Lexical, OMIM:614590] xref: MEDGEN:482875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -317284,10 +317343,10 @@ subset: ordo_disorder {source="Orphanet:313855"} subset: orphanet_rare {source="Orphanet:313855"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BBDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614592] +synonym: "BBDS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "bent bone dysplasia (BBD)-FGFR2 type" RELATED [GARD:0010965] -synonym: "bent bone dysplasia syndrome" RELATED [MONDO:Lexical, OMIM:614592] -synonym: "FGFR2-related bent bone dysplasia" EXACT [PMID:31633310] +synonym: "bent bone dysplasia syndrome" RELATED [MONDO:Lexical] +synonym: "FGFR2-related bent bone dysplasia" EXACT [Orphanet:313855, PMID:31633310] synonym: "perinatal lethal bent bone dysplasia" EXACT [Orphanet:313855] xref: GARD:10965 {source="MONDO:GARD"} xref: MEDGEN:482877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -317316,12 +317375,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CORIN preeclampsia" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Corin preeclampsia" EXACT [MONDO:design_pattern] -synonym: "PEE5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614595] +synonym: "PEE5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "preeclampsia caused by mutation in CORIN" EXACT [] synonym: "preeclampsia caused by mutation in Corin" EXACT [MONDO:design_pattern] -synonym: "PREECLAMPSIA/eclampsia 5" RELATED [OMIM:614595] +synonym: "PREECLAMPSIA/eclampsia 5" RELATED [] synonym: "preeclampsia/eclampsia 5" EXACT [MONDO:Lexical, OMIM:614595] -synonym: "Preeclampsia/eclampsia type 5" EXACT [MONDORULE:1, OMIM:614595] +synonym: "Preeclampsia/eclampsia type 5" EXACT [MONDORULE:1] xref: GARD:18393 {source="MONDO:GARD"} xref: MEDGEN:482918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614595 {source="MONDO:equivalentTo"} @@ -317340,11 +317399,11 @@ subset: gard_rare {source="GARD:15819", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "SKIV2L tricho-hepato-enteric syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "THES2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614602] +synonym: "THES2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "tricho-hepato-enteric syndrome caused by mutation in SKIV2L" EXACT [MONDO:design_pattern] -synonym: "TRICHOHEPATOENTERIC syndrome 2" RELATED [OMIM:614602] -synonym: "Trichohepatoenteric syndrome 2" EXACT [MONDO:Lexical, OMIM:614602] -synonym: "Trichohepatoenteric syndrome type 2" EXACT [MONDORULE:1, OMIM:614602] +synonym: "TRICHOHEPATOENTERIC syndrome 2" RELATED [] +synonym: "Trichohepatoenteric syndrome 2" EXACT [DOID:0111416, MONDO:Lexical, OMIM:614602] +synonym: "Trichohepatoenteric syndrome type 2" EXACT [MONDORULE:1] xref: DOID:0111416 {source="MONDO:equivalentTo"} xref: GARD:15819 {source="MONDO:GARD"} xref: MEDGEN:482919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -317365,17 +317424,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARID1A Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ARID1A-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] -synonym: "autosomal dominant intellectual disability 14" EXACT [DOID:0070044] +synonym: "autosomal dominant intellectual disability 14" EXACT [] synonym: "autosomal dominant mental retardation 14" EXACT DEPRECATED [DOID:0070044] -synonym: "COFFIN-SIRIS syndrome 2" RELATED [OMIM:614607] -synonym: "Coffin-Siris syndrome 2" RELATED [DOID:0070044, OMIM:614607] +synonym: "COFFIN-SIRIS syndrome 2" RELATED [] +synonym: "Coffin-Siris syndrome 2" RELATED [] synonym: "Coffin-Siris syndrome caused by mutation in ARID1A" EXACT [MONDO:design_pattern] synonym: "CSS2" EXACT ABBREVIATION [DOID:0070044, OMIM:614607] -synonym: "intellectual disability, autosomal dominant 14" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614607] -synonym: "intellectual disability, autosomal dominant type 14" EXACT [MONDORULE:2, OMIM:614607] -synonym: "mental retardation, autosomal dominant 14" RELATED DEPRECATED [MONDO:Lexical, OMIM:614607] -synonym: "mental retardation, autosomal dominant type 14" EXACT DEPRECATED [MONDORULE:2, OMIM:614607] -synonym: "MRD14" EXACT ABBREVIATION [DOID:0070044, MONDO:Lexical, OMIM:614607] +synonym: "intellectual disability, autosomal dominant 14" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 14" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 14" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 14" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD14" EXACT ABBREVIATION [DOID:0070044, MONDO:Lexical] xref: DOID:0070044 {source="MONDO:equivalentTo"} xref: GARD:15820 {source="MONDO:GARD"} xref: MEDGEN:766161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -317398,16 +317457,16 @@ def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:15821", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant intellectual disability 15" EXACT [DOID:0070045] +synonym: "autosomal dominant intellectual disability 15" EXACT [] synonym: "autosomal dominant mental retardation 15" EXACT DEPRECATED [DOID:0070045] -synonym: "COFFIN-SIRIS syndrome 3" EXACT [OMIM:614608] +synonym: "COFFIN-SIRIS syndrome 3" EXACT [DOID:0070045, OMIM:614608] synonym: "Coffin-Siris syndrome caused by mutation in SMARCB1" EXACT [MONDO:design_pattern] synonym: "CSS3" EXACT ABBREVIATION [DOID:0070045, OMIM:614608] -synonym: "intellectual disability, autosomal dominant 15" EXACT [MONDO:Lexical, OMIM:614608] -synonym: "intellectual disability, autosomal dominant type 15" EXACT [MONDORULE:2, OMIM:614608] -synonym: "mental retardation, autosomal dominant 15" RELATED DEPRECATED [MONDO:Lexical, OMIM:614608] -synonym: "mental retardation, autosomal dominant type 15" EXACT DEPRECATED [MONDORULE:2, OMIM:614608] -synonym: "MRD15" EXACT ABBREVIATION [DOID:0070045, MONDO:Lexical, OMIM:614608] +synonym: "intellectual disability, autosomal dominant 15" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 15" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 15" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 15" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD15" EXACT ABBREVIATION [DOID:0070045, MONDO:Lexical] synonym: "SMARCB1 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SMARCB1-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] xref: DOID:0070045 {source="MONDO:equivalentTo"} @@ -317433,16 +317492,16 @@ def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:15822", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant intellectual disability 16" EXACT [DOID:0070046] +synonym: "autosomal dominant intellectual disability 16" EXACT [] synonym: "autosomal dominant mental retardation 16" EXACT DEPRECATED [DOID:0070046] -synonym: "COFFIN-SIRIS syndrome 4" EXACT [OMIM:614609] +synonym: "COFFIN-SIRIS syndrome 4" EXACT [DOID:0070046, OMIM:614609] synonym: "Coffin-Siris syndrome caused by mutation in SMARCA4" EXACT [MONDO:design_pattern] synonym: "CSS4" EXACT ABBREVIATION [DOID:0070046, OMIM:614609] -synonym: "intellectual disability, autosomal dominant 16" EXACT [MONDO:Lexical, OMIM:614609] -synonym: "intellectual disability, autosomal dominant type 16" EXACT [MONDORULE:2, OMIM:614609] -synonym: "mental retardation, autosomal dominant 16" RELATED DEPRECATED [MONDO:Lexical, OMIM:614609] -synonym: "mental retardation, autosomal dominant type 16" EXACT DEPRECATED [MONDORULE:2, OMIM:614609] -synonym: "MRD16" EXACT ABBREVIATION [DOID:0070046, MONDO:Lexical, OMIM:614609] +synonym: "intellectual disability, autosomal dominant 16" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 16" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 16" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 16" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD16" EXACT ABBREVIATION [DOID:0070046, MONDO:Lexical] synonym: "SMARCA4 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SMARCA4-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] xref: DOID:0070046 {source="MONDO:equivalentTo"} @@ -317468,9 +317527,9 @@ def: "Any acrodysostosis in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:15823", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ACRDYS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614613] +synonym: "ACRDYS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "acrodysostosis 2 with or without hormone resistance" EXACT [MONDO:Lexical, OMIM:614613] -synonym: "acrodysostosis 2, with or without hormone resistance" EXACT [OMIM:614613, OMIM:genemap2] +synonym: "acrodysostosis 2, with or without hormone resistance" EXACT [] synonym: "acrodysostosis caused by mutation in PDE4D" EXACT [MONDO:design_pattern] synonym: "PDE4D acrodysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15823 {source="MONDO:GARD"} @@ -317494,15 +317553,15 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18136", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 4B" NARROW [DOID:0110574] -synonym: "autosomal dominant nonsyndromic deafness 4B" NARROW [OMIM:614614] +synonym: "autosomal dominant deafness 4B" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 4B" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 4B" NARROW [DOID:0110574, MONDORULE:4] +synonym: "autosomal dominant nonsyndromic deafness type 4B" NARROW [MONDORULE:4] synonym: "CEACAM16 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal dominant 4B" NARROW [MONDO:Lexical, OMIM:614614] -synonym: "deafness, autosomal dominant 4b" NARROW [OMIM:614614, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 4B" NARROW [MONDORULE:4, OMIM:614614] -synonym: "DFNA4B" NARROW ABBREVIATION [DOID:0110574, MONDO:Lexical, OMIM:614614] +synonym: "deafness, autosomal dominant 4B" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant 4b" NARROW [] +synonym: "deafness, autosomal dominant type 4B" NARROW [MONDORULE:4] +synonym: "DFNA4B" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110574 {source="MONDO:equivalentTo"} xref: GARD:18136 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110574"} @@ -317526,10 +317585,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CPLANE1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "JBTS17" EXACT ABBREVIATION [DOID:0110986, MONDO:Lexical, OMIM:614615] -synonym: "Joubert syndrome 17" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614615] +synonym: "JBTS17" EXACT ABBREVIATION [DOID:0110986, MONDO:Lexical, NCIT:C175702, OMIM:614615] +synonym: "Joubert syndrome 17" EXACT CLINGEN_LABEL [DOID:0110986, MONDO:Lexical, NCIT:C175702, OMIM:614615] synonym: "Joubert syndrome caused by mutation in CPLANE1" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 17" EXACT [DOID:0110986, MONDORULE:2, OMIM:614615] +synonym: "Joubert syndrome type 17" EXACT [MONDORULE:2] xref: DOID:0110986 {source="MONDO:equivalentTo"} xref: GARD:15824 {source="MONDO:GARD"} xref: MEDGEN:766178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -317554,14 +317613,14 @@ subset: orphanet_rare {source="Orphanet:314373"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chronic diarrhea due to guanylate cyclase 2C overactivity" EXACT [DOID:0060780] -synonym: "chronic diarrhoea due to guanylate cyclase 2C overactivity" EXACT OMO:0003005 [] +synonym: "chronic diarrhoea due to guanylate cyclase 2C overactivity" EXACT OMO:0003005 [DOID:0060780] synonym: "congenital diarrhea caused by mutation in GUCY2C" EXACT [MONDO:design_pattern] -synonym: "congenital diarrhea type 6" EXACT [DOID:0060780, MONDORULE:1] +synonym: "congenital diarrhea type 6" EXACT [MONDORULE:1] synonym: "congenital diarrhoea caused by mutation in GUCY2C" EXACT OMO:0003005 [] synonym: "congenital diarrhoea type 6" EXACT OMO:0003005 [] -synonym: "DIAR6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614616] -synonym: "diarrhea 6" RELATED [MONDO:Lexical, OMIM:614616] -synonym: "diarrhea type 6" EXACT [MONDORULE:1, OMIM:614616] +synonym: "DIAR6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "diarrhea 6" RELATED [MONDO:Lexical] +synonym: "diarrhea type 6" EXACT [MONDORULE:1] synonym: "diarrhoea 6" RELATED OMO:0003005 [] synonym: "diarrhoea type 6" EXACT OMO:0003005 [] synonym: "GUCY2C congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -317588,13 +317647,13 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22643", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 86" NARROW [DOID:0110532] -synonym: "autosomal recessive nonsyndromic deafness 86" NARROW [OMIM:614617] +synonym: "autosomal recessive deafness 86" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 86" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 86" NARROW [DOID:0110532, MONDORULE:2] -synonym: "deafness, autosomal recessive 86" NARROW [MONDO:Lexical, OMIM:614617, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 86" NARROW [MONDORULE:2, OMIM:614617] -synonym: "DFNB86" NARROW ABBREVIATION [DOID:0110532, MONDO:Lexical, OMIM:614617] +synonym: "autosomal recessive nonsyndromic deafness type 86" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 86" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 86" NARROW [MONDORULE:2] +synonym: "DFNB86" NARROW ABBREVIATION [MONDO:Lexical] synonym: "TBC1D24 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110532 {source="MONDO:equivalentTo"} xref: GARD:22643 {source="MONDO:GARD"} @@ -317619,8 +317678,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hereditary hyperekplexia caused by mutation in SLC6A5" EXACT [MONDO:design_pattern] synonym: "HKPX3" EXACT ABBREVIATION [DOID:0060698, MONDO:Lexical, OMIM:614618] -synonym: "hyperekplexia 3" EXACT [MONDO:Lexical, OMIM:614618] -synonym: "hyperekplexia type 3" EXACT [DOID:0060698, MONDORULE:1, OMIM:614618] +synonym: "hyperekplexia 3" EXACT [DOID:0060698, MONDO:Lexical, OMIM:614618] +synonym: "hyperekplexia type 3" EXACT [MONDORULE:1] synonym: "SLC6A5 hereditary hyperekplexia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060698 {source="MONDO:equivalentTo"} xref: GARD:15825 {source="MONDO:GARD"} @@ -317644,8 +317703,8 @@ subset: rare synonym: "GLRB hereditary hyperekplexia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary hyperekplexia caused by mutation in GLRB" EXACT [MONDO:design_pattern] synonym: "HKPX2" EXACT ABBREVIATION [DOID:0060697, MONDO:Lexical, OMIM:614619] -synonym: "hyperekplexia 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614619] -synonym: "hyperekplexia type 2" EXACT [DOID:0060697, MONDORULE:1, OMIM:614619] +synonym: "hyperekplexia 2" EXACT CLINGEN_LABEL [DOID:0060697, MONDO:Lexical, OMIM:614619] +synonym: "hyperekplexia type 2" EXACT [MONDORULE:1] xref: DOID:0060697 {source="MONDO:equivalentTo"} xref: GARD:15826 {source="MONDO:GARD"} xref: ICD10CM:G25.8 {source="DOID:0060697"} @@ -317666,10 +317725,10 @@ subset: gard_rare {source="GARD:15827", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ERCC8 UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "UV-sensitive syndrome 2" EXACT [MONDO:Lexical, OMIM:614621] +synonym: "UV-sensitive syndrome 2" EXACT [MONDO:Lexical, NCIT:C173110, OMIM:614621] synonym: "UV-sensitive syndrome caused by mutation in ERCC8" EXACT [MONDO:design_pattern] -synonym: "UV-sensitive syndrome type 2" EXACT [MONDORULE:1, OMIM:614621] -synonym: "UVSS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614621] +synonym: "UV-sensitive syndrome type 2" EXACT [MONDORULE:1] +synonym: "UVSS2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15827 {source="MONDO:GARD"} xref: MEDGEN:766212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C173110 {source="MONDO:equivalentTo"} @@ -317741,10 +317800,10 @@ def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:15828", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "UV-sensitive syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614640] +synonym: "UV-sensitive syndrome 3" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C173107, OMIM:614640] synonym: "UV-sensitive syndrome caused by mutation in UVSSA" EXACT [MONDO:design_pattern] -synonym: "UV-sensitive syndrome type 3" EXACT [MONDORULE:1, OMIM:614640] -synonym: "UVSS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614640] +synonym: "UV-sensitive syndrome type 3" EXACT [MONDORULE:1] +synonym: "UVSS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "UVSSA UV-sensitive syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15828 {source="MONDO:GARD"} xref: MEDGEN:766242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -317767,7 +317826,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ISPD muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MDDGA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614643] +synonym: "MDDGA7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" EXACT [MONDO:Lexical, OMIM:614643] synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD" EXACT [MONDO:design_pattern] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related" EXACT [OMIM:614643] @@ -317791,9 +317850,9 @@ subset: ordo_disorder {source="Orphanet:280406"} subset: orphanet_rare {source="Orphanet:280406"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "coenzyme Q10 deficiency, primary, 6" RELATED [MONDO:Lexical, OMIM:614650] -synonym: "coenzyme Q10 deficiency, primary, type 6" EXACT [MONDORULE:1, OMIM:614650] -synonym: "COQ10D6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614650] +synonym: "coenzyme Q10 deficiency, primary, 6" RELATED [MONDO:Lexical] +synonym: "coenzyme Q10 deficiency, primary, type 6" EXACT [MONDORULE:1] +synonym: "COQ10D6" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070243 {source="MONDO:equivalentTo"} xref: GARD:17295 {source="MONDO:GARD"} xref: ICD10CM:N04.8 {source="Orphanet:280406/attributed", source="Orphanet:280406/ntbt", source="Orphanet:280406"} @@ -317815,10 +317874,10 @@ subset: ordo_disorder {source="Orphanet:254898"} subset: orphanet_rare {source="Orphanet:254898"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "coenzyme Q10 deficiency, primary, 2" RELATED [MONDO:Lexical, OMIM:614651] -synonym: "coenzyme Q10 deficiency, primary, type 2" EXACT [MONDORULE:1, OMIM:614651] -synonym: "COQ10D2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614651] -synonym: "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [Orphanet:254898] +synonym: "coenzyme Q10 deficiency, primary, 2" RELATED [MONDO:Lexical] +synonym: "coenzyme Q10 deficiency, primary, type 2" EXACT [MONDORULE:1] +synonym: "COQ10D2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [DOID:0070239, Orphanet:254898] xref: DOID:0070239 {source="MONDO:equivalentTo"} xref: GARD:17230 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:254898", source="Orphanet:254898/attributed", source="Orphanet:254898/ntbt"} @@ -317837,9 +317896,9 @@ subset: gard_rare {source="GARD:18379", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "coenzyme Q10 deficiency caused by mutation in PDSS2" EXACT [MONDO:design_pattern] -synonym: "coenzyme Q10 deficiency, primary, 3" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614652] -synonym: "coenzyme Q10 deficiency, primary, type 3" EXACT [MONDORULE:1, OMIM:614652] -synonym: "COQ10D3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614652] +synonym: "coenzyme Q10 deficiency, primary, 3" EXACT CLINGEN_LABEL [DOID:0070240, MONDO:Lexical, OMIM:614652] +synonym: "coenzyme Q10 deficiency, primary, type 3" EXACT [MONDORULE:1] +synonym: "COQ10D3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PDSS2 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070240 {source="MONDO:equivalentTo"} xref: GARD:18379 {source="MONDO:GARD"} @@ -317867,10 +317926,10 @@ synonym: "DST hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_p synonym: "familial dysautonomia with contractures" EXACT [Orphanet:314381] synonym: "hereditary sensory and autonomic neuropathy caused by mutation in DST" EXACT [MONDO:design_pattern] synonym: "hereditary sensory and autonomic neuropathy type VI" EXACT [DOID:0070151, Orphanet:314381] -synonym: "HSAN 6" RELATED [OMIM:614653] +synonym: "HSAN 6" RELATED [] synonym: "HSAN6" EXACT ABBREVIATION [DOID:0070151, MONDO:Lexical, OMIM:614653, Orphanet:314381] -synonym: "neuropathy, hereditary sensory and autonomic, type 6" RELATED [OMIM:614653] -synonym: "neuropathy, hereditary sensory and autonomic, type VI" RELATED [MONDO:Lexical, OMIM:614653] +synonym: "neuropathy, hereditary sensory and autonomic, type 6" RELATED [] +synonym: "neuropathy, hereditary sensory and autonomic, type VI" RELATED [MONDO:Lexical] xref: DOID:0070151 {source="MONDO:equivalentTo"} xref: GARD:12987 {source="MONDO:GARD"} xref: ICD10CM:G60.8 {source="Orphanet:314381", source="Orphanet:314381/attributed", source="Orphanet:314381/ntbt", source="DOID:0070151"} @@ -317894,9 +317953,9 @@ subset: ordo_disorder {source="Orphanet:319678"} subset: orphanet_rare {source="Orphanet:319678"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "coenzyme Q10 deficiency, primary, 5" RELATED [MONDO:Lexical, OMIM:614654] -synonym: "coenzyme Q10 deficiency, primary, type 5" EXACT [MONDORULE:1, OMIM:614654] -synonym: "COQ10D5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614654] +synonym: "coenzyme Q10 deficiency, primary, 5" RELATED [MONDO:Lexical] +synonym: "coenzyme Q10 deficiency, primary, type 5" EXACT [MONDORULE:1] +synonym: "COQ10D5" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070242 {source="MONDO:equivalentTo"} xref: GARD:17470 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:319678/attributed", source="Orphanet:319678/ntbt", source="Orphanet:319678"} @@ -317926,9 +317985,9 @@ subset: gard_rare {source="GARD:15830", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "11-beta-hydroxysteroid dehydrogenase type 1 deficiency" EXACT [NCIT:C131084] -synonym: "cortisone reductase deficiency 2" EXACT [MONDO:Lexical, OMIM:614662] +synonym: "cortisone reductase deficiency 2" EXACT [DOID:0090140, MONDO:Lexical, OMIM:614662] synonym: "cortisone reductase deficiency caused by mutation in HSD11B1" EXACT [MONDO:design_pattern] -synonym: "cortisone reductase deficiency type 2" EXACT [DOID:0090140, MONDORULE:1, NCIT:C131084, OMIM:614662] +synonym: "cortisone reductase deficiency type 2" EXACT [MONDORULE:1, NCIT:C131084] synonym: "CORTRD2" EXACT ABBREVIATION [DOID:0090140, MONDO:Lexical, OMIM:614662] synonym: "HSD11B1 cortisone reductase deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090140 {source="MONDO:equivalentTo"} @@ -317955,7 +318014,7 @@ subset: orphanet_rare {source="Orphanet:314376"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "GUCY2C meconium ileus" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "meconium ileus" BROAD [OMIM:614665, OMIM:genemap2] +synonym: "meconium ileus" BROAD [] synonym: "meconium ileus caused by mutation in GUCY2C" EXACT [] synonym: "meconium ileus due to guanylate cyclase 2C deficiency" EXACT [Orphanet:314376] xref: GARD:17418 {source="MONDO:GARD"} @@ -317989,11 +318048,11 @@ name: auriculocondylar syndrome 2 def: "Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15831", source="MONDO:GARD"} subset: rare -synonym: "ARCND2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614669] -synonym: "AURICULOCONDYLAR syndrome 2" RELATED [OMIM:614669] -synonym: "Auriculocondylar syndrome 2" EXACT [MONDO:Lexical, OMIM:614669] +synonym: "ARCND2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "AURICULOCONDYLAR syndrome 2" RELATED [] +synonym: "Auriculocondylar syndrome 2" EXACT [MONDO:Lexical] synonym: "auriculocondylar syndrome caused by mutation in PLCB4" EXACT [MONDO:design_pattern] -synonym: "Auriculocondylar syndrome type 2" EXACT [MONDORULE:1, OMIM:614669] +synonym: "Auriculocondylar syndrome type 2" EXACT [MONDORULE:1] synonym: "PLCB4 auriculocondylar syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15831 {source="MONDO:GARD"} xref: MEDGEN:766318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -318009,7 +318068,7 @@ id: MONDO:0013846 name: peripartum cardiomyopathy, susceptibility to subset: predisposition synonym: "peripartum cardiomyopathy, susceptibility to" EXACT [OMIM:614670] -synonym: "Ppcm, susceptibility to" RELATED [OMIM:614670] +synonym: "Ppcm, susceptibility to" RELATED [] xref: MEDGEN:766320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614670 {source="MONDO:equivalentTo"} xref: UMLS:C3553406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766320"} @@ -318032,10 +318091,10 @@ subset: rare synonym: "16p11.2 duplication" RELATED [GARD:0012388] synonym: "16p11.2 duplication syndrome" RELATED [GARD:0012388] synonym: "16p11.2 microduplication" RELATED [GARD:0012388] -synonym: "autism, susceptibility to, 14B" RELATED [OMIM:614671] +synonym: "autism, susceptibility to, 14B" RELATED [] synonym: "AUTS14B" RELATED ABBREVIATION [GARD:0012388] -synonym: "chromosome 16p11.2 duplication syndrome" EXACT [OMIM:614671] -synonym: "proximal 16p11.2 microduplication syndrome" EXACT [DOID:0060430] +synonym: "chromosome 16p11.2 duplication syndrome" EXACT [DOID:0060430, OMIM:614671] +synonym: "proximal 16p11.2 microduplication syndrome" EXACT [DOID:0060430, Orphanet:370079] synonym: "proximal dup(16)(p11.2)" EXACT [DOID:0060430, Orphanet:370079] synonym: "proximal trisomy 16p11.2" EXACT [DOID:0060430, Orphanet:370079] synonym: "susceptibility to autism, 14B" RELATED [GARD:0012388] @@ -318061,11 +318120,11 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15832", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 2B" RELATED [MONDO:Lexical, OMIM:614672] -synonym: "cardiomyopathy, dilated, type 2B" EXACT [MONDORULE:4, OMIM:614672] +synonym: "cardiomyopathy, dilated, 2B" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 2B" EXACT [MONDORULE:4] synonym: "CMD2B" EXACT ABBREVIATION [DOID:0110441, MONDO:Lexical, OMIM:614672] -synonym: "dilated cardiomyopathy 2B" EXACT CLINGEN_LABEL [] -synonym: "dilated cardiomyopathy type 2B" EXACT [DOID:0110441, MONDORULE:4] +synonym: "dilated cardiomyopathy 2B" EXACT CLINGEN_LABEL [DOID:0110441] +synonym: "dilated cardiomyopathy type 2B" EXACT [MONDORULE:4] synonym: "familial isolated dilated cardiomyopathy caused by mutation in GATAD1" EXACT [MONDO:design_pattern] synonym: "GATAD1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110441 {source="MONDO:equivalentTo"} @@ -318087,7 +318146,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive primary microcephaly caused by mutation in CEP135" EXACT [MONDO:design_pattern] synonym: "CEP135 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MCPH8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614673] +synonym: "MCPH8" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 8, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614673] xref: DOID:0070282 {source="MONDO:equivalentTo"} xref: GARD:15833 {source="MONDO:GARD"} @@ -318119,9 +318178,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant aplastic anaemia and myelodysplasia" EXACT OMO:0003005 [] synonym: "autosomal dominant aplastic anemia and myelodysplasia" EXACT [Orphanet:314399] -synonym: "BMFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614675] -synonym: "bone marrow failure syndrome 1" RELATED [MONDO:Lexical, OMIM:614675] -synonym: "bone marrow failure syndrome type 1" EXACT [MONDORULE:1, OMIM:614675] +synonym: "BMFS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "bone marrow failure syndrome 1" RELATED [MONDO:Lexical] +synonym: "bone marrow failure syndrome type 1" EXACT [MONDORULE:1] xref: GARD:17420 {source="MONDO:GARD"} xref: ICD10CM:D61.0 {source="Orphanet:314399/attributed", source="Orphanet:314399/ntbt", source="Orphanet:314399"} xref: MEDGEN:814883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -318141,10 +318200,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardiomyopathy familial hypertrophic 21" EXACT [DOID:0110311] -synonym: "cardiomyopathy, familial hypertrophic, 21" RELATED [MONDO:Lexical, OMIM:614676] -synonym: "cardiomyopathy, hypertrophic, 21" EXACT [OMIM:614676, OMIM:genemap2] +synonym: "cardiomyopathy, familial hypertrophic, 21" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, hypertrophic, 21" EXACT [] synonym: "CMH21" EXACT ABBREVIATION [DOID:0110311, MONDO:Lexical, OMIM:614676] -synonym: "hypertrophic cardiomyopathy type 21" EXACT [DOID:0110311, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 21" EXACT [MONDORULE:2] xref: DOID:0110311 {source="MONDO:equivalentTo"} xref: MEDGEN:766356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614676 {source="MONDO:equivalentTo", source="DOID:0110311"} @@ -318163,9 +318222,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "EXOSC3 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3" EXACT [MONDO:design_pattern] -synonym: "PCH1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614678] -synonym: "pontocerebellar hypoplasia type 1B" EXACT CLINGEN_LABEL [] -synonym: "pontocerebellar hypoplasia, type 1B" RELATED [MONDO:Lexical, OMIM:614678] +synonym: "PCH1B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pontocerebellar hypoplasia type 1B" EXACT CLINGEN_LABEL [DOID:0060266] +synonym: "pontocerebellar hypoplasia, type 1B" RELATED [MONDO:Lexical] xref: DOID:0060266 {source="MONDO:equivalentTo"} xref: GARD:15834 {source="MONDO:GARD"} xref: MEDGEN:766363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -318188,13 +318247,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CCDC103 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD17" EXACT ABBREVIATION [DOID:0110621, MONDO:Lexical, OMIM:614679] -synonym: "ciliary dyskinesia, primary, 17" RELATED [MONDO:Lexical, OMIM:614679] -synonym: "ciliary dyskinesia, primary, 17, with or without situs inversus" RELATED [OMIM:614679] -synonym: "ciliary dyskinesia, primary, type 17" EXACT [MONDORULE:2, OMIM:614679] -synonym: "primary ciliary dyskinesia 17" EXACT CLINGEN_LABEL [] +synonym: "ciliary dyskinesia, primary, 17" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 17, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 17" EXACT [MONDORULE:2] +synonym: "primary ciliary dyskinesia 17" EXACT CLINGEN_LABEL [DOID:0110621] synonym: "primary ciliary dyskinesia 17 with or without situs inversus" EXACT [DOID:0110621] synonym: "primary ciliary dyskinesia caused by mutation in CCDC103" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 17" EXACT [DOID:0110621, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 17" EXACT [MONDORULE:2] xref: DOID:0110621 {source="MONDO:equivalentTo"} xref: GARD:15835 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110621"} @@ -318212,7 +318271,7 @@ id: MONDO:0013855 name: influenza, severe, susceptibility to subset: predisposition synonym: "influenza, severe, susceptibility to" EXACT [OMIM:614680] -synonym: "susceptibility to severe influenza" RELATED [OMIM:614680] +synonym: "susceptibility to severe influenza" RELATED [] xref: MEDGEN:766376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614680 {source="MONDO:equivalentTo"} xref: UMLS:C3553462 {source="MEDGEN:766376", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -318223,7 +318282,7 @@ relationship: predisposes_towards MONDO:0005812 ! influenza [Term] id: MONDO:0013856 name: hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes -synonym: "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes" EXACT [OMIM:614684] +synonym: "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes" EXACT [] synonym: "hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes" EXACT DEPRECATED [OMIM:614684] xref: MEDGEN:766379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614684 {source="MONDO:equivalentTo"} @@ -318249,8 +318308,8 @@ subset: ordo_disorder {source="Orphanet:269229"} subset: ordo_morphological_anomaly {source="Orphanet:269229"} subset: orphanet_rare {source="Orphanet:269229"} subset: rare -synonym: "PONTINE tegmental CAP dysplasia" RELATED [OMIM:614688] -synonym: "pontine tegmental cap dysplasia" EXACT [MONDO:Lexical, OMIM:614688] +synonym: "PONTINE tegmental CAP dysplasia" RELATED [] +synonym: "pontine tegmental cap dysplasia" EXACT [MONDO:Lexical, OMIM:614688, Orphanet:269229] synonym: "PTCD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614688, Orphanet:269229] xref: GARD:10919 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:269229", source="Orphanet:269229/ntbt"} @@ -318273,10 +318332,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AGK early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive congenital cataract 5" EXACT [DOID:0110245] -synonym: "cataract 38" EXACT [MONDO:Lexical, OMIM:614691] -synonym: "cataract 38, autosomal recessive" EXACT [OMIM:614691, OMIM:genemap2] -synonym: "cataract type 38" EXACT [DOID:0110245, MONDORULE:2, OMIM:614691] -synonym: "cataract, autosomal recessive congenital 5" RELATED [OMIM:614691] +synonym: "cataract 38" EXACT [DOID:0110245, MONDO:Lexical, OMIM:614691] +synonym: "cataract 38, autosomal recessive" EXACT [] +synonym: "cataract type 38" EXACT [MONDORULE:2] +synonym: "cataract, autosomal recessive congenital 5" RELATED [] synonym: "CATC5" EXACT ABBREVIATION [DOID:0110245] synonym: "CTRCT38" EXACT ABBREVIATION [DOID:0110245, MONDO:Lexical, OMIM:614691] synonym: "early-onset non-syndromic cataract caused by mutation in AGK" EXACT [MONDO:design_pattern] @@ -318305,12 +318364,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Extramembranous glomerulonephritis" RELATED [GARD:0009180] synonym: "glomerulonephritis, membranous" RELATED [GARD:0009180] -synonym: "Idiopathic membranous glomerulopathy" RELATED [NCIT:C123060] +synonym: "Idiopathic membranous glomerulopathy" RELATED [] synonym: "idiopathic membranous nephropathy" RELATED [GARD:0009180] -synonym: "MBNP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614692] +synonym: "MBNP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "membranous GN" RELATED [GARD:0009180] synonym: "membranous nephropathy - Idiopathic" EXACT [NCIT:C123060] -synonym: "membranous nephropathy, susceptibility to" RELATED [MONDO:Lexical, OMIM:614692] +synonym: "membranous nephropathy, susceptibility to" RELATED [MONDO:Lexical] synonym: "MGN" RELATED ABBREVIATION [GARD:0009180] xref: GARD:9180 {source="MONDO:GARD"} xref: ICD10CM:N04.2 {source="Orphanet:97560/ntbt", source="Orphanet:97560"} @@ -318340,9 +318399,9 @@ subset: gard_rare {source="GARD:15836", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CVID7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614699] +synonym: "CVID7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "immunodeficiency, common variable, 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614699] -synonym: "immunodeficiency, common variable, type 7" EXACT [MONDORULE:1, OMIM:614699] +synonym: "immunodeficiency, common variable, type 7" EXACT [MONDORULE:1] xref: DOID:0081150 {source="MONDO:equivalentTo"} xref: GARD:15836 {source="MONDO:GARD"} xref: MEDGEN:762276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -318365,9 +318424,9 @@ subset: orphanet_rare {source="Orphanet:445018"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CID due to LRBA deficiency" EXACT [Orphanet:445018] -synonym: "combined immunodeficiency due to LRBA deficiency" EXACT CLINGEN_LABEL [] -synonym: "CVID8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614700] -synonym: "immunodeficiency, common variable, 8, with autoimmunity" RELATED [MONDO:Lexical, OMIM:614700] +synonym: "combined immunodeficiency due to LRBA deficiency" EXACT CLINGEN_LABEL [Orphanet:445018] +synonym: "CVID8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency, common variable, 8, with autoimmunity" RELATED [MONDO:Lexical] xref: DOID:0081151 {source="MONDO:equivalentTo"} xref: GARD:13565 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:445018/attributed", source="Orphanet:445018/ntbt", source="Orphanet:445018"} @@ -318394,11 +318453,11 @@ def: "Any Cornelia de Lange syndrome in which the cause of the disease is a muta subset: gard_rare {source="GARD:15837", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CDLS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614701] -synonym: "Cornelia DE Lange syndrome 4" RELATED [OMIM:614701] -synonym: "Cornelia de Lange syndrome 4" EXACT [MONDO:Lexical, OMIM:614701] +synonym: "CDLS4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Cornelia DE Lange syndrome 4" RELATED [] +synonym: "Cornelia de Lange syndrome 4" EXACT [DOID:0080508, MONDO:Lexical] synonym: "Cornelia de Lange syndrome caused by mutation in RAD21" EXACT [MONDO:design_pattern] -synonym: "Cornelia De Lange syndrome type 4" EXACT [MONDORULE:1, OMIM:614701] +synonym: "Cornelia De Lange syndrome type 4" EXACT [MONDORULE:1] synonym: "RAD21 Cornelia de Lange syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080508 {source="MONDO:equivalentTo"} xref: GARD:15837 {source="MONDO:GARD"} @@ -318423,13 +318482,13 @@ subset: ordo_disorder {source="Orphanet:314637"} subset: orphanet_rare {source="Orphanet:314637"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis" RELATED [OMIM:614702] +synonym: "cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis" RELATED [] synonym: "combined oxidative phosphorylation defect type 10" EXACT [Orphanet:314637] -synonym: "combined oxidative phosphorylation deficiency 10" RELATED [MONDO:Lexical, OMIM:614702] +synonym: "combined oxidative phosphorylation deficiency 10" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MTO1" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 10" EXACT [MONDORULE:2, OMIM:614702] -synonym: "COXPD10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614702, Orphanet:314637] -synonym: "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" EXACT CLINGEN_LABEL [] +synonym: "combined oxidative phosphorylation deficiency type 10" EXACT [MONDORULE:2] +synonym: "COXPD10" EXACT ABBREVIATION [DOID:0111480, MONDO:Lexical, OMIM:614702, Orphanet:314637] +synonym: "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" EXACT CLINGEN_LABEL [DOID:0111480, Orphanet:314637] synonym: "MTO1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111480 {source="MONDO:equivalentTo"} xref: GARD:17428 {source="MONDO:GARD"} @@ -318455,15 +318514,15 @@ subset: ordo_etiological_subtype {source="Orphanet:314629"} subset: orphanet_rare {source="Orphanet:314629"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ceroid lipofuscinosis, neuronal, 11" RELATED [MONDO:Lexical, OMIM:614706] -synonym: "ceroid lipofuscinosis, neuronal, type 11" EXACT [MONDORULE:2, OMIM:614706] +synonym: "ceroid lipofuscinosis, neuronal, 11" RELATED [MONDO:Lexical] +synonym: "ceroid lipofuscinosis, neuronal, type 11" EXACT [MONDORULE:2] synonym: "CLN11" EXACT ABBREVIATION [DOID:0110732, MONDO:Lexical, OMIM:614706] -synonym: "CLN11 disease" RELATED [Orphanet:314629] +synonym: "CLN11 disease" RELATED [] synonym: "GRN neuronal ceroid lipofuscinosis" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Grn neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis caused by mutation in GRN" EXACT [] synonym: "neuronal ceroid lipofuscinosis caused by mutation in Grn" EXACT [MONDO:design_pattern] -synonym: "neuronal ceroid lipofuscinosis type 11" EXACT [DOID:0110732, MONDORULE:2] +synonym: "neuronal ceroid lipofuscinosis type 11" EXACT [MONDORULE:2] xref: DOID:0110732 {source="MONDO:equivalentTo"} xref: GARD:17426 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="DOID:0110732", source="Orphanet:314629", source="Orphanet:314629/attributed", source="Orphanet:314629/ntbt"} @@ -318487,10 +318546,10 @@ subset: gard_rare {source="GARD:12861", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:572550"} subset: rare -synonym: "Brown-Vialetto-van Laere syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614707] +synonym: "Brown-Vialetto-van Laere syndrome 2" EXACT CLINGEN_LABEL [DOID:0080786, MONDO:Lexical, NCIT:C183529, OMIM:614707] synonym: "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2" EXACT [MONDO:design_pattern] -synonym: "Brown-Vialetto-Van Laere syndrome type 2" EXACT [MONDORULE:1, OMIM:614707] -synonym: "BVVLS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614707] +synonym: "Brown-Vialetto-Van Laere syndrome type 2" EXACT [MONDORULE:1] +synonym: "BVVLS2" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C183529, OMIM:614707] synonym: "SLC52A2 Brown-Vialetto-van Laere syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080786 {source="MONDO:equivalentTo"} xref: GARD:12861 {source="MONDO:GARD"} @@ -318515,7 +318574,7 @@ subset: gard_rare {source="GARD:15838", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "POROK7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614714] -synonym: "porokeratosis 7, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:614714] +synonym: "porokeratosis 7, disseminated superficial actinic type" EXACT [MONDO:Lexical] synonym: "porokeratosis 7, multiple types" EXACT [OMIM:614714] xref: GARD:15838 {source="MONDO:GARD"} xref: MEDGEN:766463 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -318538,13 +318597,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "2,8-dihydroxyadenine urolithiasis" EXACT [DOID:0060350, Orphanet:976] synonym: "2,8-dihydroxyadeninuria disease" EXACT [https://orcid.org/0000-0002-6601-2165, PMID:23064195] -synonym: "adenine phosphoribosyltransferase deficiency" EXACT [MONDO:Lexical, OMIM:614723] +synonym: "adenine phosphoribosyltransferase deficiency" EXACT [DOID:0060350, icd11.foundation:753682703, MONDO:Lexical, NCIT:C121564, OMIM:614723, Orphanet:976] synonym: "APRT deficiency" EXACT [DOID:0060350, GARD:0010666, OMIM:614723, Orphanet:976] -synonym: "APRTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614723] +synonym: "APRTD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Dihydroxyadeninuria" RELATED [GARD:0010666] -synonym: "nephrolithiasis, Dha" RELATED [OMIM:614723] -synonym: "urolithiasis, 2,8-dihydroxyadenine" RELATED [OMIM:614723] -synonym: "urolithiasis, Dha" RELATED [OMIM:614723] +synonym: "nephrolithiasis, Dha" RELATED [] +synonym: "urolithiasis, 2,8-dihydroxyadenine" RELATED [] +synonym: "urolithiasis, Dha" RELATED [] xref: DOID:0060350 {source="MONDO:equivalentTo"} xref: GARD:546 {source="MONDO:GARD"} xref: ICD10CM:E79.8 {source="Orphanet:976/attributed", source="Orphanet:976/ntbt", source="Orphanet:976"} @@ -318574,15 +318633,15 @@ subset: ordo_disorder {source="Orphanet:314667"} subset: orphanet_rare {source="Orphanet:314667"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carbohydrate deficient glycoprotein syndrome type IIk" EXACT [Orphanet:314667] -synonym: "CDG IIk" RELATED [OMIM:614727] -synonym: "CDG syndrome type IIk" EXACT [Orphanet:314667] +synonym: "carbohydrate deficient glycoprotein syndrome type IIk" EXACT [DOID:0070263, Orphanet:314667] +synonym: "CDG IIk" RELATED [] +synonym: "CDG syndrome type IIk" EXACT [DOID:0070263, Orphanet:314667] synonym: "CDG-IIk" EXACT [Orphanet:314667] -synonym: "CDG2K" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614727, Orphanet:314667] -synonym: "congenital disorder of glycosylation type 2k" EXACT [Orphanet:314667] -synonym: "congenital disorder of glycosylation type IIk" EXACT [Orphanet:314667] -synonym: "congenital disorder of glycosylation, type IIk" RELATED [MONDO:Lexical, OMIM:614727] -synonym: "TMEM165-CDG" EXACT ABBREVIATION [Orphanet:314667] +synonym: "CDG2K" EXACT ABBREVIATION [DOID:0070263, MONDO:Lexical, OMIM:614727, Orphanet:314667] +synonym: "congenital disorder of glycosylation type 2k" EXACT [DOID:0070263, Orphanet:314667] +synonym: "congenital disorder of glycosylation type IIk" EXACT [DOID:0070263, Orphanet:314667] +synonym: "congenital disorder of glycosylation, type IIk" RELATED [MONDO:Lexical] +synonym: "TMEM165-CDG" EXACT ABBREVIATION [DOID:0070263, Orphanet:314667] synonym: "TMEM165-CDG (CDG-IIk)" RELATED [GARD:0012413] synonym: "TMEM165-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] xref: DOID:0070263 {source="MONDO:equivalentTo"} @@ -318613,9 +318672,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEP63 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL6" EXACT ABBREVIATION [DOID:0070006, MONDO:Lexical, OMIM:614728] -synonym: "Seckel syndrome 6" EXACT [MONDO:Lexical, OMIM:614728] +synonym: "Seckel syndrome 6" EXACT [DOID:0070006, MONDO:Lexical, OMIM:614728] synonym: "Seckel syndrome caused by mutation in CEP63" EXACT [MONDO:design_pattern] -synonym: "Seckel syndrome type 6" EXACT [MONDORULE:1, OMIM:614728] +synonym: "Seckel syndrome type 6" EXACT [MONDORULE:1] xref: DOID:0070006 {source="MONDO:equivalentTo"} xref: MEDGEN:766496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614728 {source="MONDO:equivalentTo", source="DOID:0070006"} @@ -318634,10 +318693,10 @@ subset: gard_rare {source="GARD:15839", source="MONDO:GARD"} subset: rare synonym: "ELAC2 familial prostate cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial prostate cancer caused by mutation in ELAC2" EXACT [MONDO:design_pattern] -synonym: "HPC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614731] +synonym: "HPC2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "prostate cancer, hereditary, 2" EXACT [MONDO:Lexical, OMIM:614731] -synonym: "prostate cancer, hereditary, 2, susceptibility to" EXACT [OMIM:614731, OMIM:genemap2] -synonym: "prostate cancer, hereditary, type 2" EXACT [MONDORULE:1, OMIM:614731] +synonym: "prostate cancer, hereditary, 2, susceptibility to" EXACT [] +synonym: "prostate cancer, hereditary, type 2" EXACT [MONDORULE:1] xref: GARD:15839 {source="MONDO:GARD"} xref: MEDGEN:761328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614731 {source="MONDO:equivalentTo"} @@ -318659,10 +318718,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:85173"} subset: orphanet_rare {source="Orphanet:85173"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMAGe syndrome" EXACT [OMIM:614732] +synonym: "IMAGe syndrome" EXACT [DOID:0050885, icd11.foundation:1064803315, NCIT:C130988, OMIM:614732, Orphanet:85173] synonym: "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT [DOID:0050885] synonym: "intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies" RELATED [GARD:0012312] -synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" RELATED [OMIM:614732] +synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" RELATED [] synonym: "intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome" EXACT [Orphanet:85173] xref: DOID:0050885 {source="MONDO:equivalentTo"} xref: GARD:12312 {source="MONDO:GARD"} @@ -318694,11 +318753,11 @@ subset: gard_rare {source="GARD:15840", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "familial glucocorticoid deficiency caused by mutation in NNT" EXACT [MONDO:design_pattern] -synonym: "GCCD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614736] -synonym: "glucocorticoid deficiency 4" EXACT [MONDO:Lexical, OMIM:614736] -synonym: "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" RELATED [OMIM:614736] -synonym: "glucocorticoid deficiency 4, with or without mineralocorticoid deficiency" EXACT [OMIM:614736, OMIM:genemap2] -synonym: "glucocorticoid deficiency type 4" EXACT [MONDORULE:1, OMIM:614736] +synonym: "GCCD4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "glucocorticoid deficiency 4" EXACT [MONDO:Lexical] +synonym: "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" RELATED [] +synonym: "glucocorticoid deficiency 4, with or without mineralocorticoid deficiency" EXACT [] +synonym: "glucocorticoid deficiency type 4" EXACT [MONDORULE:1] synonym: "NNT familial glucocorticoid deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15840 {source="MONDO:GARD"} xref: MEDGEN:766501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -318726,14 +318785,14 @@ subset: rare synonym: "3-methylglutaconic aciduria caused by mutation in SERAC1" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type 6" EXACT [DOID:0110001] synonym: "3-methylglutaconic aciduria type VI" RELATED [GARD:0012963] -synonym: "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614739] +synonym: "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" EXACT CLINGEN_LABEL [DOID:0110001, MONDO:Lexical, OMIM:614739] synonym: "3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome" EXACT [Orphanet:352328] -synonym: "3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome" RELATED [OMIM:614739] -synonym: "3-Methylglutaconic aciduria, type 6" RELATED [OMIM:614739] +synonym: "3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome" RELATED [] +synonym: "3-Methylglutaconic aciduria, type 6" RELATED [] synonym: "3-MGCA type IV (formerly)" RELATED [GARD:0012963] synonym: "3-MGCA-4 (formerly)" RELATED [GARD:0012963] synonym: "MEGDEL" EXACT ABBREVIATION [DOID:0110001, MONDO:Lexical, OMIM:614739] -synonym: "MEGDEL syndrome" EXACT [DOID:0110001] +synonym: "MEGDEL syndrome" EXACT [DOID:0110001, Orphanet:352328] synonym: "MGCA6" EXACT ABBREVIATION [DOID:0110001] synonym: "SERAC1 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SERAC1 defect" RELATED [GARD:0012963] @@ -318762,12 +318821,12 @@ def: "Any skin basal cell carcinoma in which the cause of the disease is a mutat subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare -synonym: "basal cell carcinoma 7" EXACT [OMIM:614740, OMIM:genemap2] +synonym: "basal cell carcinoma 7" EXACT [] synonym: "basal cell carcinoma, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:614740] -synonym: "basal cell carcinoma, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:614740] -synonym: "BCC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614740] +synonym: "basal cell carcinoma, susceptibility to, type 7" EXACT [MONDORULE:1] +synonym: "BCC7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "skin basal cell carcinoma caused by mutation in TP53" EXACT [MONDO:design_pattern] -synonym: "susceptibility to basal cell carcinoma 7" RELATED [OMIM:614740] +synonym: "susceptibility to basal cell carcinoma 7" RELATED [] synonym: "TP53 skin basal cell carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:766520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614740 {source="MONDO:equivalentTo"} @@ -318790,8 +318849,8 @@ subset: ordo_disorder {source="Orphanet:447784"} subset: orphanet_rare {source="Orphanet:447784"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mitochondrial pyruvate carrier deficiency" EXACT [MONDO:Lexical, OMIM:614741] -synonym: "MPYCD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614741] +synonym: "mitochondrial pyruvate carrier deficiency" EXACT [DOID:0080363, MONDO:Lexical, OMIM:614741, Orphanet:447784] +synonym: "MPYCD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080363 {source="MONDO:equivalentTo"} xref: GARD:17771 {source="MONDO:GARD"} xref: ICD10CM:E74.4 {source="Orphanet:447784/attributed", source="Orphanet:447784/ntbt", source="Orphanet:447784"} @@ -318813,11 +318872,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PFBMFT1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614742] +synonym: "PFBMFT1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT" EXACT [MONDO:design_pattern] -synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1" RELATED [OMIM:614742] -synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" EXACT [MONDO:Lexical, OMIM:614742] -synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1" EXACT [MONDORULE:1, OMIM:614742] +synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1" RELATED [] +synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" EXACT [MONDO:Lexical] +synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1" EXACT [MONDORULE:1] synonym: "TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: EFO:1001501 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:766531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -318837,12 +318896,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "aplastic anaemia" BROAD OMO:0003005 [] -synonym: "aplastic anemia" BROAD [OMIM:614743, OMIM:genemap2] -synonym: "PFBMFT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614743] -synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2" RELATED [OMIM:614743] -synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2" EXACT [MONDO:Lexical, OMIM:614743] -synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2" EXACT [MONDORULE:1, OMIM:614743] -synonym: "pulmonary fibrosis, idiopathic, susceptibility to" RELATED [OMIM:614743, OMIM:genemap2] +synonym: "aplastic anemia" BROAD [] +synonym: "PFBMFT2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2" RELATED [] +synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2" EXACT [MONDO:Lexical] +synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2" EXACT [MONDORULE:1] +synonym: "pulmonary fibrosis, idiopathic, susceptibility to" RELATED [] xref: MEDGEN:766536 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614743 {source="MONDO:equivalentTo"} xref: Orphanet:88 {source="MONDO:relatedTo", source="OMIM:614743"} @@ -318863,8 +318922,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1" EXACT [MONDO:design_pattern] synonym: "facial paresis, hereditary congenital, 3" EXACT [MONDO:Lexical, OMIM:614744] -synonym: "facial paresis, hereditary congenital, type 3" EXACT [MONDORULE:1, OMIM:614744] -synonym: "HCFP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614744] +synonym: "facial paresis, hereditary congenital, type 3" EXACT [MONDORULE:1] +synonym: "HCFP3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18437 {source="MONDO:GARD"} xref: MEDGEN:766539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -318888,16 +318947,16 @@ subset: ordo_disorder {source="Orphanet:306504"} subset: orphanet_rare {source="Orphanet:306504"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital ILNEB syndrome" EXACT [Orphanet:306504] -synonym: "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" EXACT [Orphanet:306504] -synonym: "congenital NEP syndrome" EXACT [Orphanet:306504] -synonym: "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" EXACT CLINGEN_LABEL [Orphanet:306504] -synonym: "congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome" EXACT [Orphanet:306504] -synonym: "ILNEB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614748] -synonym: "interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital" RELATED [MONDO:Lexical, OMIM:614748] -synonym: "JEB with respiratory and renal involvement" EXACT [Orphanet:306504] -synonym: "JEB-RR" EXACT [Orphanet:306504] -synonym: "junctional epidermolysis bullosa with respiratory and renal involvement" RELATED [Orphanet:306504] +synonym: "congenital ILNEB syndrome" EXACT [] +synonym: "congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome" EXACT [] +synonym: "congenital NEP syndrome" EXACT [] +synonym: "congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome" EXACT CLINGEN_LABEL [] +synonym: "congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome" EXACT [] +synonym: "ILNEB" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital" RELATED [MONDO:Lexical] +synonym: "JEB with respiratory and renal involvement" EXACT [] +synonym: "JEB-RR" EXACT [] +synonym: "junctional epidermolysis bullosa with respiratory and renal involvement" RELATED [] xref: GARD:17377 {source="MONDO:GARD"} xref: MEDGEN:1388385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614748 {source="Orphanet:306504", source="MONDO:equivalentTo", source="Orphanet:306504/e"} @@ -318919,12 +318978,12 @@ def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause subset: gard_rare {source="GARD:18351", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "glycosylphosphatidylinositol biosynthesis defect 6" RELATED [OMIM:614749] -synonym: "HPMRS2" RELATED DEPRECATED [MONDO:Lexical, OMIM:614749] -synonym: "hyperphosphatasia with intellectual disability syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614749] -synonym: "hyperphosphatasia with intellectual disability syndrome type 2" EXACT [MONDORULE:1, OMIM:614749] -synonym: "hyperphosphatasia with mental retardation syndrome 2" EXACT DEPRECATED [MONDO:Lexical, OMIM:614749] -synonym: "hyperphosphatasia with mental retardation syndrome type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:614749] +synonym: "glycosylphosphatidylinositol biosynthesis defect 6" RELATED [] +synonym: "HPMRS2" RELATED DEPRECATED [MONDO:Lexical] +synonym: "hyperphosphatasia with intellectual disability syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "hyperphosphatasia with intellectual disability syndrome type 2" EXACT [MONDORULE:1] +synonym: "hyperphosphatasia with mental retardation syndrome 2" EXACT DEPRECATED [DOID:0070434, MONDO:Lexical] +synonym: "hyperphosphatasia with mental retardation syndrome type 2" EXACT DEPRECATED [MONDORULE:1] synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO" EXACT [MONDO:design_pattern] synonym: "PIGO hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070434 {source="MONDO:equivalentTo"} @@ -318948,14 +319007,14 @@ subset: rare synonym: "CMS13" EXACT ABBREVIATION [DOID:0110676, MONDO:Lexical, OMIM:614750] synonym: "CMSTA2" EXACT ABBREVIATION [DOID:0110676] synonym: "congenital myasthenic syndrome 13 with tubular aggregates" EXACT [DOID:0110676] -synonym: "congenital myasthenic syndrome type 13" EXACT [DOID:0110676, MONDORULE:2] +synonym: "congenital myasthenic syndrome type 13" EXACT [MONDORULE:2] synonym: "congenital myasthenic syndrome with tubular aggregates 2" EXACT [DOID:0110676] synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1" EXACT [MONDO:design_pattern] synonym: "DPAGT1 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "myasthenic syndrome, congenital, 13" RELATED [MONDO:Lexical, OMIM:614750] -synonym: "myasthenic syndrome, congenital, 13, with tubular aggregates" EXACT [OMIM:614750, OMIM:genemap2] -synonym: "myasthenic syndrome, congenital, type 13" EXACT [MONDORULE:2, OMIM:614750] -synonym: "myasthenic syndrome, congenital, with tubular aggregates 2" RELATED [OMIM:614750] +synonym: "myasthenic syndrome, congenital, 13" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, 13, with tubular aggregates" EXACT [] +synonym: "myasthenic syndrome, congenital, type 13" EXACT [MONDORULE:2] +synonym: "myasthenic syndrome, congenital, with tubular aggregates 2" RELATED [] xref: DOID:0110676 {source="MONDO:equivalentTo"} xref: GARD:18452 {source="MONDO:GARD"} xref: MEDGEN:766559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -318975,14 +319034,14 @@ name: neuronopathy, distal hereditary motor, type 5B def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18267", source="MONDO:GARD"} subset: rare -synonym: "dHMN 5B" RELATED [OMIM:614751] -synonym: "HMN 5B" RELATED [OMIM:614751] -synonym: "HMN5B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614751] +synonym: "dHMN 5B" RELATED [] +synonym: "HMN 5B" RELATED [] +synonym: "HMN5B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "neuronopathy, distal hereditary motor caused by mutation in REEP1" EXACT [MONDO:design_pattern] -synonym: "neuronopathy, distal hereditary motor, type VB" RELATED [MONDO:Lexical, OMIM:614751] -synonym: "neuropathy, distal hereditary motor, type 5B" RELATED [OMIM:614751] +synonym: "neuronopathy, distal hereditary motor, type VB" RELATED [MONDO:Lexical] +synonym: "neuropathy, distal hereditary motor, type 5B" RELATED [] synonym: "REEP1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spinal muscular atrophy, distal, type 5B" RELATED [OMIM:614751] +synonym: "spinal muscular atrophy, distal, type 5B" RELATED [] xref: DOID:0111205 {source="MONDO:equivalentTo"} xref: GARD:18267 {source="MONDO:GARD"} xref: MEDGEN:766570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -319008,10 +319067,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:420179"} subset: orphanet_rare {source="Orphanet:420179"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Malan syndrome" RELATED [OMIM:614753] -synonym: "Sotos syndrome 2" EXACT DEPRECATED [MONDO:Lexical, OMIM:614753, Orphanet:420179] -synonym: "Sotos syndrome type 2" EXACT DEPRECATED [MONDORULE:1, OMIM:614753] -synonym: "SOTOS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614753] +synonym: "Malan syndrome" RELATED [] +synonym: "Sotos syndrome 2" EXACT DEPRECATED [DOID:0112102, MONDO:Lexical, Orphanet:420179] +synonym: "Sotos syndrome type 2" EXACT DEPRECATED [MONDORULE:1] +synonym: "SOTOS2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0112102 {source="MONDO:equivalentTo"} xref: GARD:13811 {source="MONDO:GARD"} xref: ICD10CM:Q87.3 {source="Orphanet:420179", source="Orphanet:420179/attributed", source="Orphanet:420179/ntbt"} @@ -319042,12 +319101,12 @@ subset: orphanet_rare {source="Orphanet:314647"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CAMTA1-related disorder" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:38044714] -synonym: "CANPMR" EXACT DEPRECATED [MONDO:Lexical, OMIM:614756] -synonym: "cerebellar ataxia, nonprogressive, with intellectual disability" EXACT [MONDO:Lexical, OMIM:614756] +synonym: "CANPMR" EXACT DEPRECATED [MONDO:Lexical] +synonym: "cerebellar ataxia, nonprogressive, with intellectual disability" EXACT [MONDO:Lexical] synonym: "cerebellar ataxia, nonprogressive, with mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:614756] -synonym: "cerebellar dysfunction with variable cognitive and behavioral abnormalities" EXACT [OMIM:614756, OMIM:genemap2] +synonym: "cerebellar dysfunction with variable cognitive and behavioral abnormalities" EXACT [OMIM:614756] synonym: "non-progressive cerebellar ataxia with intellectual disability" EXACT [Orphanet:314647] -synonym: "nonprogressive cerebellar ataxia with intellectual disability" EXACT CLINGEN_LABEL [DOID:0050998] +synonym: "nonprogressive cerebellar ataxia with intellectual disability" EXACT CLINGEN_LABEL [] synonym: "nonprogressive cerebellar ataxia with mental retardation" EXACT DEPRECATED [DOID:0050998] xref: DOID:0050998 {source="MONDO:equivalentTo"} xref: GARD:17429 {source="MONDO:GARD"} @@ -319070,8 +319129,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "heterotaxy, visceral, 6, autosomal" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614779] -synonym: "heterotaxy, visceral, 6, autosomal recessive" EXACT [OMIM:614779, OMIM:genemap2] -synonym: "HTX6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614779] +synonym: "heterotaxy, visceral, 6, autosomal recessive" EXACT [] +synonym: "HTX6" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:766590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614779 {source="MONDO:equivalentTo"} xref: Orphanet:450 {source="OMIM:614779"} @@ -319086,11 +319145,11 @@ id: MONDO:0013888 name: tremor, hereditary essential, 4 def: "Any essential tremor in which the cause of the disease is a mutation in the FUS gene." [MONDO:patterns/disease_series_by_gene] synonym: "essential tremor caused by mutation in FUS" EXACT [MONDO:design_pattern] -synonym: "essential tremor, hereditary, 4" EXACT [OMIM:614782, OMIM:genemap2] -synonym: "ETM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614782] +synonym: "essential tremor, hereditary, 4" EXACT [] +synonym: "ETM4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "FUS essential tremor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "tremor, hereditary essential, 4" EXACT [MONDO:Lexical, OMIM:614782] -synonym: "tremor, hereditary essential, type 4" EXACT [MONDORULE:1, OMIM:614782] +synonym: "tremor, hereditary essential, type 4" EXACT [MONDORULE:1] xref: DOID:0111431 {source="MONDO:equivalentTo"} xref: MEDGEN:761337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614782 {source="MONDO:equivalentTo"} @@ -319114,11 +319173,11 @@ subset: orphanet_rare {source="Orphanet:391677"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "short stature with optic atrophy and Pelger-Huët anomaly syndrome" RELATED [GARD:0010945] -synonym: "short stature, optic nerve atrophy, and Pelger-Huet anomaly" RELATED [MONDO:Lexical, OMIM:614800] +synonym: "short stature, optic nerve atrophy, and Pelger-Huet anomaly" RELATED [MONDO:Lexical] synonym: "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome" EXACT CLINGEN_LABEL [] -synonym: "short stature-optic atrophy-Pelger-Huët anomaly syndrome" RELATED [Orphanet:391677] -synonym: "soph" RELATED [MONDO:Lexical, OMIM:614800] -synonym: "soph syndrome" EXACT [Orphanet:391677] +synonym: "short stature-optic atrophy-Pelger-Huët anomaly syndrome" RELATED [] +synonym: "soph" RELATED [MONDO:Lexical] +synonym: "soph syndrome" EXACT [OMIM:614800, Orphanet:391677] xref: GARD:10945 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:391677/attributed", source="Orphanet:391677/ntbt", source="Orphanet:391677"} xref: MEDGEN:762020 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -319140,11 +319199,11 @@ subset: ordo_disorder {source="Orphanet:319160"} subset: orphanet_rare {source="Orphanet:319160"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "centronuclear myopathy 4" EXACT [OMIM:614807, OMIM:genemap2] +synonym: "centronuclear myopathy 4" EXACT [DOID:0111224] synonym: "centronuclear myopathy type 4" EXACT [Orphanet:319160] -synonym: "CNM4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614807, Orphanet:319160] -synonym: "myopathy, centronuclear, 4" RELATED [MONDO:Lexical, OMIM:614807] -synonym: "myopathy, centronuclear, type 4" EXACT [MONDORULE:1, OMIM:614807] +synonym: "CNM4" EXACT ABBREVIATION [DOID:0111224, MONDO:Lexical, OMIM:614807, Orphanet:319160] +synonym: "myopathy, centronuclear, 4" RELATED [MONDO:Lexical] +synonym: "myopathy, centronuclear, type 4" EXACT [MONDORULE:1] xref: DOID:0111224 {source="MONDO:equivalentTo"} xref: GARD:17443 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:319160/attributed", source="Orphanet:319160/ntbt", source="Orphanet:319160"} @@ -319169,7 +319228,7 @@ subset: rare synonym: "ALS18" EXACT ABBREVIATION [DOID:0060209, MONDO:Lexical, OMIM:614808] synonym: "amyotrophic lateral sclerosis 18" EXACT [DOID:0060209, MONDO:Lexical, OMIM:614808] synonym: "amyotrophic lateral sclerosis caused by mutation in PFN1" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis type 18" EXACT CLINGEN_LABEL [MONDORULE:2, OMIM:614808] +synonym: "amyotrophic lateral sclerosis type 18" EXACT CLINGEN_LABEL [DOID:0060209, MONDORULE:2] synonym: "PFN1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060209 {source="MONDO:equivalentTo"} xref: GARD:15841 {source="MONDO:GARD"} @@ -319193,9 +319252,9 @@ subset: ordo_histopathological_subtype {source="Orphanet:329931"} subset: ordo_subtype_of_a_disorder {source="Orphanet:329931"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CFHR5 deficiency" RELATED [OMIM:614809] +synonym: "CFHR5 deficiency" RELATED [] synonym: "complement-mediated membranoproliferative glomerulonephritis" EXACT [NCIT:C123043] -synonym: "nephropathy due to CFHR5 deficiency" EXACT [OMIM:614809, OMIM:genemap2] +synonym: "nephropathy due to CFHR5 deficiency" EXACT [] xref: GARD:16487 {source="MONDO:GARD"} xref: ICD10CM:N00.5 {source="Orphanet:329931/attributed", source="Orphanet:329931/ntbt", source="Orphanet:329931"} xref: MEDGEN:884569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -319215,11 +319274,11 @@ id: MONDO:0013893 name: multiple sclerosis, susceptibility to, 5 def: "Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "MS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614810] +synonym: "MS5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A" EXACT [MONDO:design_pattern] synonym: "multiple sclerosis, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:614810] -synonym: "multiple sclerosis, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:614810] -synonym: "susceptibility to multiple sclerosis 5" RELATED [OMIM:614810] +synonym: "multiple sclerosis, susceptibility to, type 5" EXACT [MONDORULE:1] +synonym: "susceptibility to multiple sclerosis 5" RELATED [] synonym: "TNFRSF1A multiple sclerosis, susceptibility to" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:766642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614810 {source="MONDO:equivalentTo"} @@ -319242,8 +319301,8 @@ subset: ordo_disorder {source="Orphanet:314394"} subset: orphanet_rare {source="Orphanet:314394"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" RELATED [MONDO:Lexical, OMIM:614813] -synonym: "soft" RELATED [MONDO:Lexical, OMIM:614813] +synonym: "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" RELATED [MONDO:Lexical] +synonym: "soft" RELATED [MONDO:Lexical] synonym: "soft syndrome" EXACT [OMIM:614813, Orphanet:314394] xref: GARD:17419 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:314394/attributed", source="Orphanet:314394/ntbt", source="Orphanet:314394"} @@ -319268,8 +319327,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Adams-Oliver syndrome 3" EXACT [MONDO:Lexical, OMIM:614814] synonym: "Adams-Oliver syndrome caused by mutation in RBPJ" EXACT [MONDO:design_pattern] -synonym: "Adams-Oliver syndrome type 3" EXACT [MONDORULE:1, OMIM:614814] -synonym: "AOS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614814] +synonym: "Adams-Oliver syndrome type 3" EXACT [MONDORULE:1] +synonym: "AOS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "RBPJ Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15842 {source="MONDO:GARD"} xref: MEDGEN:766662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -319291,9 +319350,9 @@ subset: gard_rare {source="GARD:15843", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS18" EXACT ABBREVIATION [DOID:0110987, MONDO:Lexical, OMIM:614815] -synonym: "Joubert syndrome 18" EXACT [MONDO:Lexical, OMIM:614815] +synonym: "Joubert syndrome 18" EXACT [DOID:0110987, MONDO:Lexical, OMIM:614815] synonym: "Joubert syndrome caused by mutation in TCTN3" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 18" EXACT [DOID:0110987, MONDORULE:2, OMIM:614815] +synonym: "Joubert syndrome type 18" EXACT [MONDORULE:2] synonym: "TCTN3 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110987 {source="MONDO:equivalentTo"} xref: GARD:15843 {source="MONDO:GARD"} @@ -319313,11 +319372,11 @@ def: "Any Loeys-Dietz syndrome in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:10588", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations" RELATED [OMIM:614816] -synonym: "LDS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614816] -synonym: "Loeys-Dietz syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614816] +synonym: "aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations" RELATED [] +synonym: "LDS4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Loeys-Dietz syndrome 4" EXACT CLINGEN_LABEL [DOID:0070233, MONDO:Lexical, OMIM:614816] synonym: "Loeys-Dietz syndrome caused by mutation in TGFB2" EXACT [MONDO:design_pattern] -synonym: "Loeys-Dietz syndrome type 4" EXACT [MONDORULE:1, OMIM:614816] +synonym: "Loeys-Dietz syndrome type 4" EXACT [MONDORULE:1] synonym: "TGFB2 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070233 {source="MONDO:equivalentTo"} xref: GARD:10588 {source="MONDO:GARD"} @@ -319344,10 +319403,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FAN1 interstitial nephritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "interstitial nephritis caused by mutation in FAN1" EXACT [MONDO:design_pattern] -synonym: "interstitial nephritis, karyomegalic" RELATED [MONDO:Lexical, OMIM:614817] -synonym: "karyomegalic interstitial nephritis" EXACT CLINGEN_LABEL [] -synonym: "kin" EXACT [DOID:0060911, Orphanet:401996] -synonym: "KMIN" EXACT ABBREVIATION [DOID:0060911, MONDO:Lexical, OMIM:614817] +synonym: "interstitial nephritis, karyomegalic" RELATED [MONDO:Lexical] +synonym: "karyomegalic interstitial nephritis" EXACT CLINGEN_LABEL [DOID:0060911, NCIT:C173626, Orphanet:401996] +synonym: "KIN" EXACT ABBREVIATION [DOID:0060911, NCIT:C173626, Orphanet:401996] +synonym: "kin" EXACT [] +synonym: "KMIN" EXACT ABBREVIATION [DOID:0060911, MONDO:Lexical, NCIT:C173626, OMIM:614817] synonym: "systemic karyomegaly" EXACT [Orphanet:401996] xref: DOID:0060911 {source="MONDO:equivalentTo"} xref: GARD:11003 {source="MONDO:GARD"} @@ -319375,10 +319435,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "LTBP2 Weill-Marchesani syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Weill-Marchesani syndrome 3" EXACT [MONDO:Lexical, OMIM:614819] -synonym: "Weill-Marchesani syndrome 3, recessive" EXACT [OMIM:614819, OMIM:genemap2] +synonym: "Weill-Marchesani syndrome 3, recessive" EXACT [] synonym: "Weill-Marchesani syndrome caused by mutation in LTBP2" EXACT [MONDO:design_pattern] -synonym: "Weill-Marchesani syndrome type 3" EXACT [MONDORULE:1, OMIM:614819] -synonym: "WMS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614819] +synonym: "Weill-Marchesani syndrome type 3" EXACT [MONDORULE:1] +synonym: "WMS3" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15844 {source="MONDO:GARD"} xref: MEDGEN:766699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614819 {source="MONDO:equivalentTo"} @@ -319400,10 +319460,10 @@ name: alternating hemiplegia of childhood 2 def: "Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15845", source="MONDO:GARD"} subset: rare -synonym: "AHC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614820] +synonym: "AHC2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "alternating hemiplegia of childhood 2" EXACT [MONDO:Lexical, OMIM:614820] synonym: "alternating hemiplegia of childhood caused by mutation in ATP1A3" EXACT [MONDO:design_pattern] -synonym: "alternating hemiplegia of childhood type 2" EXACT [MONDORULE:1, OMIM:614820] +synonym: "alternating hemiplegia of childhood type 2" EXACT [MONDORULE:1] synonym: "ATP1A3 alternating hemiplegia of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15845 {source="MONDO:GARD"} xref: MEDGEN:766702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -319423,10 +319483,10 @@ subset: gard_rare {source="GARD:18401", source="MONDO:GARD"} subset: rare synonym: "azoospermia caused by mutation in SEPT12" EXACT [MONDO:design_pattern] synonym: "SEPT12 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spermatogenic failure 10" EXACT [MONDO:Lexical, OMIM:614822] -synonym: "spermatogenic failure type 10" EXACT [MONDORULE:2, OMIM:614822] -synonym: "spermatogenic failure with defective sperm annulus" RELATED [OMIM:614822] -synonym: "SPGF10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614822] +synonym: "spermatogenic failure 10" EXACT [DOID:0070178, MONDO:Lexical, OMIM:614822] +synonym: "spermatogenic failure type 10" EXACT [MONDORULE:2] +synonym: "spermatogenic failure with defective sperm annulus" RELATED [] +synonym: "SPGF10" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070178 {source="MONDO:equivalentTo"} xref: GARD:18401 {source="MONDO:GARD"} xref: MEDGEN:766707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -319447,12 +319507,12 @@ def: "Any aortic valve disease in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:18471", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aortic valve disease 2" EXACT [MONDO:Lexical, OMIM:614823] +synonym: "aortic valve disease 2" EXACT [DOID:0080334, MONDO:Lexical, OMIM:614823] synonym: "aortic valve disease caused by mutation in SMAD6" EXACT [MONDO:design_pattern] -synonym: "aortic valve disease type 2" EXACT [MONDORULE:1, OMIM:614823] -synonym: "aortic valve stenosis" RELATED [OMIM:614823] -synonym: "AOVD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614823] -synonym: "bicuspid aortic valve" RELATED [OMIM:614823] +synonym: "aortic valve disease type 2" EXACT [MONDORULE:1] +synonym: "aortic valve stenosis" RELATED [] +synonym: "AOVD2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "bicuspid aortic valve" RELATED [] synonym: "SMAD6 aortic valve disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080334 {source="MONDO:equivalentTo"} xref: GARD:18471 {source="MONDO:GARD"} @@ -319469,8 +319529,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0013903 name: nystagmus 7, congenital, autosomal dominant -synonym: "NYS7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614826] -synonym: "NYSTAGMUS 7, congenital, autosomal dominant" RELATED [MONDO:Lexical, OMIM:614826] +synonym: "NYS7" EXACT ABBREVIATION [DOID:0111791, MONDO:Lexical, OMIM:614826] +synonym: "NYSTAGMUS 7, congenital, autosomal dominant" RELATED [MONDO:Lexical] xref: DOID:0111791 {source="MONDO:equivalentTo"} xref: MEDGEN:766715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614826 {source="MONDO:equivalentTo"} @@ -319486,14 +319546,14 @@ subset: gard_rare {source="GARD:15846", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDDGA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614830] +synonym: "MDDGA8" RELATED ABBREVIATION [MONDO:Lexical] synonym: "muscle-eye-brain-POMGNT2 related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8" RELATED [OMIM:614830] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8" EXACT [MONDO:Lexical, OMIM:614830] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8" EXACT [OMIM:614830, OMIM:genemap2] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2" EXACT [MONDO:design_pattern] synonym: "POMGNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related" RELATED [OMIM:614830] +synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related" RELATED [] xref: DOID:0111231 {source="MONDO:equivalentTo"} xref: GARD:15846 {source="MONDO:GARD"} xref: MEDGEN:766727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -319519,14 +319579,14 @@ subset: rare synonym: "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1" EXACT [] synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" EXACT [Orphanet:324262] -synonym: "autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" RELATED [Orphanet:324262] -synonym: "autosomal recessive spinocerebellar ataxia 13" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive spinocerebellar ataxia type 13" EXACT [DOID:0080062, MONDORULE:2, Orphanet:324262] +synonym: "autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" RELATED [] +synonym: "autosomal recessive spinocerebellar ataxia 13" EXACT CLINGEN_LABEL [DOID:0080062] +synonym: "autosomal recessive spinocerebellar ataxia type 13" EXACT [MONDORULE:2, Orphanet:324262] synonym: "GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SCAR13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614831, Orphanet:324262] -synonym: "spinocerebellar ataxia, autosomal recessive 13" RELATED [MONDO:Lexical, OMIM:614831] -synonym: "spinocerebellar ataxia, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:614831] +synonym: "SCAR13" EXACT ABBREVIATION [DOID:0080062, MONDO:Lexical, OMIM:614831, Orphanet:324262] +synonym: "spinocerebellar ataxia, autosomal recessive 13" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 13" EXACT [MONDORULE:2] xref: DOID:0080062 {source="MONDO:equivalentTo"} xref: GARD:17481 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:324262", source="Orphanet:324262/attributed", source="Orphanet:324262/ntbt"} @@ -319551,8 +319611,8 @@ synonym: "AI2A4" EXACT ABBREVIATION [DOID:0110062, MONDO:Lexical, OMIM:614832] synonym: "amelogenesis imperfecta caused by mutation in ODAPH" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation type IIA4" EXACT [DOID:0110062] synonym: "amelogenesis imperfecta type IIA4" EXACT [DOID:0110062] -synonym: "amelogenesis imperfecta, hypomaturation type, IIA4" RELATED [MONDO:Lexical, OMIM:614832] -synonym: "amelogenesis imperfecta, type IIA4" EXACT [OMIM:614832, OMIM:genemap2] +synonym: "amelogenesis imperfecta, hypomaturation type, IIA4" RELATED [MONDO:Lexical] +synonym: "amelogenesis imperfecta, type IIA4" EXACT [] synonym: "ODAPH amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110062 {source="MONDO:equivalentTo"} xref: GARD:15847 {source="MONDO:GARD"} @@ -319578,12 +319638,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:208447"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bilateral generalized polymicrogyria" EXACT CLINGEN_LABEL [GARD:0010786] -synonym: "microcephaly, short stature, and polymicrogyria with or without seizures" RELATED [OMIM:614833] -synonym: "microcephaly, short stature, and polymicrogyria with seizures" EXACT [OMIM:614833, OMIM:genemap2] -synonym: "MSSP" RELATED ABBREVIATION [OMIM:614833] -synonym: "PMGYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614833] -synonym: "polymicrogyria with seizures" RELATED [MONDO:Lexical, OMIM:614833] +synonym: "bilateral generalized polymicrogyria" EXACT CLINGEN_LABEL [DOID:0080920, GARD:0010786, Orphanet:208447] +synonym: "microcephaly, short stature, and polymicrogyria with or without seizures" RELATED [] +synonym: "microcephaly, short stature, and polymicrogyria with seizures" EXACT [] +synonym: "MSSP" RELATED ABBREVIATION [] +synonym: "PMGYS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "polymicrogyria with seizures" RELATED [MONDO:Lexical] xref: DOID:0080920 {source="MONDO:equivalentTo"} xref: GARD:10786 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:208447/attributed", source="Orphanet:208447/ntbt", source="Orphanet:208447"} @@ -319615,9 +319675,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0013909 name: human herpesvirus 8, susceptibility to -synonym: "HHV-8, susceptibility to" RELATED [OMIM:614836] +synonym: "HHV-8, susceptibility to" RELATED [] synonym: "HHV8S" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614836] -synonym: "HUMAN HERPESVIRUS 8, susceptibility to" RELATED [MONDO:Lexical, OMIM:614836] +synonym: "HUMAN HERPESVIRUS 8, susceptibility to" RELATED [MONDO:Lexical] xref: MEDGEN:766754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614836 {source="MONDO:equivalentTo"} xref: UMLS:C3553840 {source="MEDGEN:766754", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -319632,8 +319692,8 @@ name: hypogonadotropic hypogonadism 8 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15849", source="MONDO:GARD"} subset: rare -synonym: "HH8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614837] -synonym: "hypogonadotropic hypogonadism 8 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614837] +synonym: "HH8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 8 with or without anosmia" EXACT [DOID:0090074, MONDO:Lexical, OMIM:614837] synonym: "hypogonadotropic hypogonadism caused by mutation in KISS1R" EXACT [MONDO:design_pattern] synonym: "KISS1R hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090074 {source="MONDO:equivalentTo"} @@ -319655,8 +319715,8 @@ name: hypogonadotropic hypogonadism 9 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15850", source="MONDO:GARD"} subset: rare -synonym: "HH9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614838] -synonym: "hypogonadotropic hypogonadism 9 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614838] +synonym: "HH9" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 9 with or without anosmia" EXACT [DOID:0090085, MONDO:Lexical, OMIM:614838] synonym: "hypogonadotropic hypogonadism caused by mutation in NSMF" EXACT [MONDO:design_pattern] synonym: "NSMF hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090085 {source="MONDO:equivalentTo"} @@ -319677,8 +319737,8 @@ name: hypogonadotropic hypogonadism 10 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18600", source="MONDO:GARD"} subset: rare -synonym: "HH10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614839] -synonym: "hypogonadotropic hypogonadism 10 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614839] +synonym: "HH10" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 10 with or without anosmia" EXACT [DOID:0090089, MONDO:Lexical, OMIM:614839] synonym: "hypogonadotropic hypogonadism caused by mutation in TAC3" EXACT [MONDO:design_pattern] synonym: "TAC3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090089 {source="MONDO:equivalentTo"} @@ -319698,8 +319758,8 @@ name: hypogonadotropic hypogonadism 11 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15851", source="MONDO:GARD"} subset: rare -synonym: "HH11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614840] -synonym: "hypogonadotropic hypogonadism 11 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614840] +synonym: "HH11" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 11 with or without anosmia" EXACT [DOID:0090071, MONDO:Lexical, OMIM:614840] synonym: "hypogonadotropic hypogonadism caused by mutation in TACR3" EXACT [MONDO:design_pattern] synonym: "TACR3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090071 {source="MONDO:equivalentTo"} @@ -319727,9 +319787,9 @@ synonym: "familial hypogonadotropic eunuchoidism" RELATED [GARD:0000276] synonym: "familial idiopathic gonadotrpin deficiency" EXACT [DOID:0090072] synonym: "FIGD" RELATED ABBREVIATION [GARD:0000276] synonym: "gonadotropin deficiency familial idiopathic" RELATED [GARD:0000276] -synonym: "gonadotropin deficiency, familial idiopathic" RELATED [OMIM:614841] -synonym: "HH12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614841] -synonym: "hypogonadotropic hypogonadism 12 with or without anosmia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614841] +synonym: "gonadotropin deficiency, familial idiopathic" RELATED [] +synonym: "HH12" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 12 with or without anosmia" EXACT CLINGEN_LABEL [DOID:0090072, MONDO:Lexical, OMIM:614841] xref: DOID:0090072 {source="MONDO:equivalentTo"} xref: GARD:276 {source="MONDO:GARD"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="DOID:0090072"} @@ -319748,8 +319808,8 @@ name: hypogonadotropic hypogonadism 13 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18601", source="MONDO:GARD"} subset: rare -synonym: "HH13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614842] -synonym: "hypogonadotropic hypogonadism 13 with or without anosmia" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614842] +synonym: "HH13" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 13 with or without anosmia" EXACT CLINGEN_LABEL [DOID:0090073, MONDO:Lexical, OMIM:614842] synonym: "hypogonadotropic hypogonadism caused by mutation in KISS1" EXACT [MONDO:design_pattern] synonym: "KISS1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090073 {source="MONDO:equivalentTo"} @@ -319770,10 +319830,10 @@ def: "Any nephronophthisis in which the cause of the disease is a mutation in th subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Joubert syndrome 19" RELATED [OMIM:614844] +synonym: "Joubert syndrome 19" RELATED [] synonym: "nephronophthisis (disease) caused by mutation in ZNF423" EXACT [] -synonym: "nephronophthisis 14" EXACT [MONDO:Lexical, OMIM:614844] -synonym: "nephronophthisis type 14" EXACT [DOID:0111122, MONDORULE:2, OMIM:614844] +synonym: "nephronophthisis 14" EXACT [DOID:0111122, MONDO:Lexical, OMIM:614844] +synonym: "nephronophthisis type 14" EXACT [MONDORULE:2] synonym: "NPHP14" EXACT ABBREVIATION [DOID:0111122, MONDO:Lexical, OMIM:614844] synonym: "ZNF423 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0111122 {source="MONDO:equivalentTo"} @@ -319796,8 +319856,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEP164 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nephronophthisis (disease) caused by mutation in CEP164" EXACT [] -synonym: "nephronophthisis 15" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614845] -synonym: "nephronophthisis type 15" EXACT [DOID:0111123, MONDORULE:2, OMIM:614845] +synonym: "nephronophthisis 15" EXACT CLINGEN_LABEL [DOID:0111123, MONDO:Lexical, OMIM:614845] +synonym: "nephronophthisis type 15" EXACT [MONDORULE:2] synonym: "NPHP15" EXACT ABBREVIATION [DOID:0111123, MONDO:Lexical, OMIM:614845] xref: DOID:0111123 {source="MONDO:equivalentTo"} xref: GARD:15852 {source="MONDO:GARD"} @@ -319821,11 +319881,11 @@ subset: ordo_etiological_subtype {source="Orphanet:314588"} subset: ordo_subtype_of_a_disorder {source="Orphanet:314588"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "distal tetrasomy type 15q" EXACT [MONDORULE:4, Orphanet:314588] -synonym: "levy-Shanske syndrome" RELATED [OMIM:614846] +synonym: "distal tetrasomy type 15q" EXACT [MONDORULE:4] +synonym: "levy-Shanske syndrome" RELATED [] synonym: "tetrasomy 15(q25-qter)" EXACT [Orphanet:314588] synonym: "tetrasomy 15q26" EXACT [OMIM:614846, Orphanet:314588] -synonym: "tetrasomy type 15Q26" EXACT [MONDORULE:7, OMIM:614846] +synonym: "tetrasomy type 15Q26" EXACT [MONDORULE:7] xref: GARD:17424 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:314588", source="Orphanet:314588/attributed", source="Orphanet:314588/ntbt"} xref: MEDGEN:766772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -319841,11 +319901,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0013919 name: epilepsy, idiopathic generalized, susceptibility to, 12 subset: predisposition -synonym: "EIG12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614847] +synonym: "EIG12" EXACT ABBREVIATION [DOID:0111313, MONDO:Lexical, OMIM:614847] synonym: "epilepsy, idiopathic generalized, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:614847] -synonym: "epilepsy, idiopathic generalized, susceptibility to, type 12" EXACT [MONDORULE:2, OMIM:614847] +synonym: "epilepsy, idiopathic generalized, susceptibility to, type 12" EXACT [MONDORULE:2] synonym: "susceptibility to idiopathic generalised epilepsy 12" RELATED OMO:0003005 [] -synonym: "susceptibility to idiopathic generalized epilepsy 12" RELATED [OMIM:614847] +synonym: "susceptibility to idiopathic generalized epilepsy 12" RELATED [] xref: DOID:0111313 {source="MONDO:equivalentTo"} xref: MEDGEN:766773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614847 {source="MONDO:equivalentTo"} @@ -319860,13 +319920,13 @@ id: MONDO:0013920 name: herpes simplex encephalitis, susceptibility to, 3 def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5" RELATED [OMIM:614849] -synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5" RELATED [OMIM:614849] -synonym: "encephalopathy, acute, infection-induced, susceptibility to, 5" RELATED [OMIM:614849] +synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5" RELATED [] +synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5" RELATED [] +synonym: "encephalopathy, acute, infection-induced, susceptibility to, 5" RELATED [] synonym: "herpes simplex encephalitis caused by mutation in TRAF3" EXACT [MONDO:design_pattern] synonym: "herpes simplex encephalitis, susceptibility to, 3" EXACT [OMIM:614849] -synonym: "Herpes simplex encephalitis, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:614849] -synonym: "IIAE5" RELATED ABBREVIATION [OMIM:614849] +synonym: "Herpes simplex encephalitis, susceptibility to, type 3" EXACT [MONDORULE:1] +synonym: "IIAE5" RELATED ABBREVIATION [] synonym: "TRAF3 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:766782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614849 {source="MONDO:equivalentTo"} @@ -319886,13 +319946,13 @@ id: MONDO:0013921 name: herpes simplex encephalitis, susceptibility to, 4 def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6" RELATED [OMIM:614850] -synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6" RELATED [OMIM:614850] -synonym: "encephalopathy, acute, infection-induced, susceptibility to, 6" RELATED [OMIM:614850] +synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6" RELATED [] +synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6" RELATED [] +synonym: "encephalopathy, acute, infection-induced, susceptibility to, 6" RELATED [] synonym: "herpes simplex encephalitis caused by mutation in TICAM1" EXACT [MONDO:design_pattern] synonym: "herpes simplex encephalitis, susceptibility to, 4" EXACT [OMIM:614850] -synonym: "Herpes simplex encephalitis, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614850] -synonym: "IIAE6" RELATED ABBREVIATION [OMIM:614850] +synonym: "Herpes simplex encephalitis, susceptibility to, type 4" EXACT [MONDORULE:1] +synonym: "IIAE6" RELATED ABBREVIATION [] synonym: "TICAM1 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:766783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614850 {source="MONDO:equivalentTo"} @@ -319923,9 +319983,9 @@ subset: rare synonym: "microcephalic primordial dwarfism, Dauber type" EXACT [Orphanet:319675] synonym: "NIN Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL7" EXACT ABBREVIATION [DOID:0070011, MONDO:Lexical, OMIM:614851] -synonym: "Seckel syndrome 7" EXACT [MONDO:Lexical, OMIM:614851] +synonym: "Seckel syndrome 7" EXACT [DOID:0070011, MONDO:Lexical, OMIM:614851] synonym: "Seckel syndrome caused by mutation in NIN" EXACT [MONDO:design_pattern] -synonym: "Seckel syndrome type 7" EXACT [MONDORULE:1, OMIM:614851] +synonym: "Seckel syndrome type 7" EXACT [MONDORULE:1] xref: DOID:0070011 {source="MONDO:equivalentTo"} xref: GARD:17469 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:319675", source="Orphanet:319675/attributed", source="Orphanet:319675/ntbt"} @@ -319948,7 +320008,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive primary microcephaly caused by mutation in CEP152" EXACT [MONDO:design_pattern] synonym: "CEP152 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MCPH9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614852] +synonym: "MCPH9" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 9, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614852] xref: DOID:0070292 {source="MONDO:equivalentTo"} xref: GARD:15855 {source="MONDO:GARD"} @@ -319967,12 +320027,12 @@ def: "Any osteogenesis imperfecta in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15856", source="MONDO:GARD"} subset: rare synonym: "BMP1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "OI, type 13" RELATED [OMIM:614856] +synonym: "OI, type 13" RELATED [] synonym: "OI13" EXACT ABBREVIATION [DOID:0110342, MONDO:Lexical, OMIM:614856] synonym: "osteogenesis imperfecta caused by mutation in BMP1" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XIII" EXACT [DOID:0110342] -synonym: "osteogenesis imperfecta, type 13" RELATED [OMIM:614856] -synonym: "osteogenesis imperfecta, type XIII" RELATED [MONDO:Lexical, OMIM:614856] +synonym: "osteogenesis imperfecta, type 13" RELATED [] +synonym: "osteogenesis imperfecta, type XIII" RELATED [MONDO:Lexical] xref: DOID:0110342 {source="MONDO:equivalentTo"} xref: GARD:15856 {source="MONDO:GARD"} xref: ICD10CM:Q78.0 {source="DOID:0110342"} @@ -319996,9 +320056,9 @@ subset: rare synonym: "cblJ defects" EXACT [Orphanet:369955] synonym: "cobalamin J defect" EXACT [Orphanet:369955] synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ" EXACT [Orphanet:369955] -synonym: "MAHCJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614857] +synonym: "MAHCJ" RELATED ABBREVIATION [MONDO:Lexical] synonym: "methylmalonic acidemia with homocystinuria type cblJ" RELATED [GARD:0012621] -synonym: "methylmalonic aciduria and homocystinuria, cblJ type" RELATED [GARD:0012621, MONDO:Lexical, OMIM:614857] +synonym: "methylmalonic aciduria and homocystinuria, cblJ type" RELATED [GARD:0012621, MONDO:Lexical] synonym: "methylmalonic aciduria with homocystinuria, type cblJ" EXACT [Orphanet:369955] xref: GARD:12621 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:369955/attributed", source="Orphanet:369955/ntbt", source="Orphanet:369955"} @@ -320018,8 +320078,8 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m subset: gard_rare {source="GARD:15857", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HH14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614858] -synonym: "hypogonadotropic hypogonadism 14 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614858] +synonym: "HH14" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 14 with or without anosmia" EXACT [DOID:0090087, MONDO:Lexical, OMIM:614858] synonym: "hypogonadotropic hypogonadism caused by mutation in WDR11" EXACT [MONDO:design_pattern] synonym: "WDR11 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090087 {source="MONDO:equivalentTo"} @@ -320041,9 +320101,9 @@ subset: gard_rare {source="GARD:15858", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PBD3A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614859] -synonym: "peroxisome biogenesis disorder 3A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614859] -synonym: "peroxisome biogenesis disorder, complementation group 3" RELATED [OMIM:614859] +synonym: "PBD3A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 3A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080478, MONDO:Lexical, OMIM:614859] +synonym: "peroxisome biogenesis disorder, complementation group 3" RELATED [] xref: DOID:0080478 {source="MONDO:equivalentTo"} xref: GARD:15858 {source="MONDO:GARD"} xref: MEDGEN:766843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320068,10 +320128,10 @@ subset: ordo_disorder {source="Orphanet:420492"} subset: orphanet_rare {source="Orphanet:420492"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult-onset cervical dystonia, DYT23 type" RELATED [Orphanet:420492] +synonym: "adult-onset cervical dystonia, DYT23 type" RELATED [] synonym: "CACNA1B dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "dystonia 23" EXACT [MONDO:Lexical, OMIM:614860, Orphanet:420492] -synonym: "dystonia type 23" EXACT [DOID:0090051, MONDORULE:2, OMIM:614860] +synonym: "dystonia 23" EXACT [DOID:0090051, MONDO:Lexical, OMIM:614860, Orphanet:420492] +synonym: "dystonia type 23" EXACT [MONDORULE:2] synonym: "dystonic disorder caused by mutation in CACNA1B" EXACT [MONDO:design_pattern] synonym: "DYT23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614860, Orphanet:420492] xref: DOID:0090051 {source="MONDO:equivalentTo"} @@ -320095,14 +320155,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22644", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 98" NARROW [DOID:0110540] -synonym: "autosomal recessive nonsyndromic deafness 98" NARROW [OMIM:614861] +synonym: "autosomal recessive deafness 98" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 98" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 98" NARROW [DOID:0110540, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 98" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 98" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 98" NARROW [MONDO:Lexical, OMIM:614861, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 98" NARROW [MONDORULE:2, OMIM:614861] -synonym: "DFNB98" NARROW ABBREVIATION [DOID:0110540, MONDO:Lexical, OMIM:614861] +synonym: "deafness, autosomal recessive 98" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 98" NARROW [MONDORULE:2] +synonym: "DFNB98" NARROW ABBREVIATION [MONDO:Lexical] synonym: "TSPEAR autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110540 {source="MONDO:equivalentTo"} xref: GARD:22644 {source="MONDO:GARD"} @@ -320125,11 +320185,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "classic peroxisome biogenesis disorder" EXACT [https://www.clinicalgenome.org/affiliation/40049/] -synonym: "PBD4A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614862] -synonym: "peroxisome biogenesis disorder 4A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614862] -synonym: "peroxisome biogenesis disorder, complementation group 4" RELATED [OMIM:614862] -synonym: "peroxisome biogenesis disorder, complementation group 6" RELATED [OMIM:614862] -synonym: "peroxisome biogenesis disorder, complementation group C" RELATED [OMIM:614862] +synonym: "PBD4A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 4A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080479, MONDO:Lexical, OMIM:614862] +synonym: "peroxisome biogenesis disorder, complementation group 4" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group 6" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group C" RELATED [] xref: DOID:0080479 {source="MONDO:equivalentTo"} xref: GARD:15859 {source="MONDO:GARD"} xref: MEDGEN:766850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320152,9 +320212,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "non-classic peroxisome biogenesis disorder" BROAD [https://www.clinicalgenome.org/affiliation/40049/] -synonym: "PBD4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614863] -synonym: "peroxisome biogenesis disorder 4B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614863] -synonym: "peroxisome biogenesis disorder type 4B" EXACT [MONDORULE:4, OMIM:614863] +synonym: "PBD4B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 4B" EXACT CLINGEN_LABEL [DOID:0081433, MONDO:Lexical, NCIT:C155755, OMIM:614863] +synonym: "peroxisome biogenesis disorder type 4B" EXACT [MONDORULE:4] xref: DOID:0081433 {source="MONDO:equivalentTo"} xref: GARD:15860 {source="MONDO:GARD"} xref: MEDGEN:766851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320177,11 +320237,11 @@ subset: gard_rare {source="GARD:15861", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PBD5A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614866] -synonym: "peroxisome biogenesis disorder 5A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614866] -synonym: "peroxisome biogenesis disorder, complementation group 10" RELATED [OMIM:614866] -synonym: "peroxisome biogenesis disorder, complementation group 5" RELATED [OMIM:614866] -synonym: "peroxisome biogenesis disorder, complementation group F" RELATED [OMIM:614866] +synonym: "PBD5A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 5A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080480, MONDO:Lexical, OMIM:614866] +synonym: "peroxisome biogenesis disorder, complementation group 10" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group 5" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group F" RELATED [] xref: DOID:0080480 {source="MONDO:equivalentTo"} xref: GARD:15861 {source="MONDO:GARD"} xref: MEDGEN:766854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320200,9 +320260,9 @@ name: peroxisome biogenesis disorder 5B subset: gard_rare {source="GARD:15862", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PBD5B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614867] -synonym: "peroxisome biogenesis disorder 5B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614867] -synonym: "peroxisome biogenesis disorder type 5B" EXACT [MONDORULE:4, OMIM:614867] +synonym: "PBD5B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 5B" EXACT CLINGEN_LABEL [DOID:0081434, MONDO:Lexical, NCIT:C155757, OMIM:614867] +synonym: "peroxisome biogenesis disorder type 5B" EXACT [MONDORULE:4] xref: DOID:0081434 {source="MONDO:equivalentTo"} xref: GARD:15862 {source="MONDO:GARD"} xref: MEDGEN:762202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320231,9 +320291,9 @@ subset: rare synonym: "CID due to STK4 deficiency" EXACT [Orphanet:314689] synonym: "MST1 deficiency" EXACT [OMIM:614868] synonym: "STK4 deficiency" EXACT [OMIM:614868] -synonym: "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations" RELATED [MONDO:Lexical, OMIM:614868] -synonym: "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations" EXACT [OMIM:614868, OMIM:genemap2] -synonym: "TIIAC" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614868] +synonym: "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations" RELATED [MONDO:Lexical] +synonym: "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations" EXACT [] +synonym: "TIIAC" EXACT ABBREVIATION [MONDO:Lexical] xref: GARD:17430 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:314689", source="Orphanet:314689/attributed", source="Orphanet:314689/ntbt"} xref: MEDGEN:766857 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320257,8 +320317,8 @@ synonym: "CIB2 Usher syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disea synonym: "USH1J" EXACT ABBREVIATION [DOID:0110836, MONDO:Lexical, OMIM:614869] synonym: "Usher syndrome caused by mutation in CIB2" EXACT [MONDO:design_pattern] synonym: "Usher syndrome type Ij" EXACT [DOID:0110836] -synonym: "Usher syndrome, type 1J" RELATED [OMIM:614869] -synonym: "USHER syndrome, type Ij" RELATED [MONDO:Lexical, OMIM:614869] +synonym: "Usher syndrome, type 1J" RELATED [] +synonym: "USHER syndrome, type Ij" RELATED [MONDO:Lexical] xref: DOID:0110836 {source="MONDO:equivalentTo"} xref: GARD:15863 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110836"} @@ -320281,10 +320341,10 @@ subset: gard_rare {source="GARD:15864", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PBD6A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614870] -synonym: "peroxisome biogenesis disorder 6A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614870] -synonym: "peroxisome biogenesis disorder, complementation group 7" RELATED [OMIM:614870] -synonym: "peroxisome biogenesis disorder, complementation group B" RELATED [OMIM:614870] +synonym: "PBD6A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 6A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080481, MONDO:Lexical, OMIM:614870] +synonym: "peroxisome biogenesis disorder, complementation group 7" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group B" RELATED [] xref: DOID:0080481 {source="MONDO:equivalentTo"} xref: GARD:15864 {source="MONDO:GARD"} xref: MEDGEN:766861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320306,9 +320366,9 @@ subset: gard_rare {source="GARD:15865", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PBD6B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614871] -synonym: "peroxisome biogenesis disorder 6B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614871] -synonym: "peroxisome biogenesis disorder type 6B" EXACT [MONDORULE:4, OMIM:614871] +synonym: "PBD6B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 6B" EXACT CLINGEN_LABEL [DOID:0081435, MONDO:Lexical, NCIT:C155759, OMIM:614871] +synonym: "peroxisome biogenesis disorder type 6B" EXACT [MONDORULE:4] xref: DOID:0081435 {source="MONDO:equivalentTo"} xref: GARD:15865 {source="MONDO:GARD"} xref: MEDGEN:766862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320330,10 +320390,10 @@ subset: gard_rare {source="GARD:15866", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PBD7A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614872] -synonym: "peroxisome biogenesis disorder 7A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614872] -synonym: "peroxisome biogenesis disorder, complementation group 8" RELATED [OMIM:614872] -synonym: "peroxisome biogenesis disorder, complementation group A" RELATED [OMIM:614872] +synonym: "PBD7A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 7A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080482, MONDO:Lexical, OMIM:614872] +synonym: "peroxisome biogenesis disorder, complementation group 8" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group A" RELATED [] xref: DOID:0080482 {source="MONDO:equivalentTo"} xref: GARD:15866 {source="MONDO:GARD"} xref: MEDGEN:854881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320352,9 +320412,9 @@ name: peroxisome biogenesis disorder 7B subset: gard_rare {source="GARD:15867", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PBD7B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614873] -synonym: "peroxisome biogenesis disorder 7B" EXACT [MONDO:Lexical, OMIM:614873] -synonym: "peroxisome biogenesis disorder type 7B" EXACT [MONDORULE:4, OMIM:614873] +synonym: "PBD7B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 7B" EXACT [DOID:0081436, MONDO:Lexical, NCIT:C155761, OMIM:614873] +synonym: "peroxisome biogenesis disorder type 7B" EXACT [MONDORULE:4] xref: DOID:0081436 {source="MONDO:equivalentTo"} xref: GARD:15867 {source="MONDO:GARD"} xref: MEDGEN:766865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320376,13 +320436,13 @@ subset: gard_rare {source="GARD:15868", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD18" EXACT ABBREVIATION [DOID:0110604, MONDO:Lexical, OMIM:614874] -synonym: "ciliary dyskinesia, primary, 18" RELATED [MONDO:Lexical, OMIM:614874] -synonym: "ciliary dyskinesia, primary, 18, with or without situs inversus" RELATED [OMIM:614874] -synonym: "ciliary dyskinesia, primary, type 18" EXACT [MONDORULE:2, OMIM:614874] +synonym: "ciliary dyskinesia, primary, 18" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 18, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 18" EXACT [MONDORULE:2] synonym: "DNAAF5 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia 18 with or without situs inversus" EXACT [DOID:0110604] synonym: "primary ciliary dyskinesia caused by mutation in DNAAF5" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 18" EXACT [DOID:0110604, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 18" EXACT [MONDORULE:2] xref: DOID:0110604 {source="MONDO:equivalentTo"} xref: GARD:15868 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110604"} @@ -320404,10 +320464,10 @@ subset: ordo_disorder {source="Orphanet:99646"} subset: orphanet_rare {source="Orphanet:99646"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" EXACT [OMIM:614875] -synonym: "metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria" RELATED [OMIM:614875] -synonym: "metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875] -synonym: "spondyloenchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [OMIM:614875] +synonym: "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" EXACT [icd11.foundation:1777127218, OMIM:614875, Orphanet:99646] +synonym: "metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria" RELATED [] +synonym: "metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [] +synonym: "spondyloenchondromatosis with D-2-hydroxyglutaric aciduria" RELATED [] xref: GARD:16902 {source="MONDO:GARD"} xref: icd11.foundation:1777127218 {source="MONDO:equivalentTo"} xref: MEDGEN:766872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320427,10 +320487,10 @@ subset: gard_rare {source="GARD:15869", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PBD8A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614876] -synonym: "peroxisome biogenesis disorder 8A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614876] -synonym: "peroxisome biogenesis disorder, complementation group 9" RELATED [OMIM:614876] -synonym: "peroxisome biogenesis disorder, complementation group D" RELATED [OMIM:614876] +synonym: "PBD8A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 8A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080483, MONDO:Lexical, OMIM:614876] +synonym: "peroxisome biogenesis disorder, complementation group 9" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group D" RELATED [] xref: DOID:0080483 {source="MONDO:equivalentTo"} xref: GARD:15869 {source="MONDO:GARD"} xref: MEDGEN:766873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320448,9 +320508,9 @@ name: peroxisome biogenesis disorder 8B subset: gard_rare {source="GARD:15870", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PBD8B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614877] -synonym: "peroxisome biogenesis disorder 8B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614877] -synonym: "peroxisome biogenesis disorder type 8B" EXACT [MONDORULE:4, OMIM:614877] +synonym: "PBD8B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 8B" EXACT CLINGEN_LABEL [DOID:0081437, MONDO:Lexical, NCIT:C155763, OMIM:614877] +synonym: "peroxisome biogenesis disorder type 8B" EXACT [MONDORULE:4] xref: DOID:0081437 {source="MONDO:equivalentTo"} xref: GARD:15870 {source="MONDO:GARD"} xref: MEDGEN:766874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320475,8 +320535,8 @@ subset: orphanet_rare {source="Orphanet:324530"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "APLAID" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614878, Orphanet:324530] -synonym: "autoinflammation, antibody deficiency, and immune dysregulation syndrome" EXACT [OMIM:614878, OMIM:genemap2] -synonym: "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated" RELATED [MONDO:Lexical, OMIM:614878] +synonym: "autoinflammation, antibody deficiency, and immune dysregulation syndrome" EXACT [] +synonym: "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated" RELATED [MONDO:Lexical] xref: GARD:17486 {source="MONDO:GARD"} xref: MEDGEN:766875 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200442 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -320494,13 +320554,13 @@ name: peroxisome biogenesis disorder 9B subset: gard_rare {source="GARD:15871", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PBD9B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614879] -synonym: "peroxisome biogenesis disorder 9B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614879] -synonym: "peroxisome biogenesis disorder type 9B" EXACT [MONDORULE:4, OMIM:614879] -synonym: "peroxisome biogenesis disorder, complementation group 11" RELATED [OMIM:614879] -synonym: "peroxisome biogenesis disorder, complementation group R" RELATED [OMIM:614879] -synonym: "peroxisome biogenesis disorder, PEX7-related, atypical" RELATED [OMIM:614879] -synonym: "Refsum disease, adult, 2" RELATED [OMIM:614879] +synonym: "PBD9B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 9B" EXACT CLINGEN_LABEL [DOID:0081438, MONDO:Lexical, OMIM:614879] +synonym: "peroxisome biogenesis disorder type 9B" EXACT [MONDORULE:4] +synonym: "peroxisome biogenesis disorder, complementation group 11" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group R" RELATED [] +synonym: "peroxisome biogenesis disorder, PEX7-related, atypical" RELATED [] +synonym: "Refsum disease, adult, 2" RELATED [] xref: DOID:0081438 {source="MONDO:equivalentTo"} xref: GARD:15871 {source="MONDO:GARD"} xref: MEDGEN:440765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320520,9 +320580,9 @@ name: hypogonadotropic hypogonadism 15 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15872", source="MONDO:GARD"} subset: rare -synonym: "HH15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614880] +synonym: "HH15" RELATED ABBREVIATION [MONDO:Lexical] synonym: "HS6ST1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hypogonadotropic hypogonadism 15 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614880] +synonym: "hypogonadotropic hypogonadism 15 with or without anosmia" EXACT [DOID:0090075, MONDO:Lexical, OMIM:614880] synonym: "hypogonadotropic hypogonadism caused by mutation in HS6ST1" EXACT [MONDO:design_pattern] xref: DOID:0090075 {source="MONDO:equivalentTo"} xref: GARD:15872 {source="MONDO:GARD"} @@ -320546,13 +320606,13 @@ subset: ordo_disorder {source="Orphanet:314485"} subset: orphanet_rare {source="Orphanet:314485"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive distal spinal muscular atrophy type 5" EXACT [Orphanet:314485] -synonym: "DSMA5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614881] +synonym: "autosomal recessive distal spinal muscular atrophy type 5" EXACT [DOID:0111214, Orphanet:314485] +synonym: "DSMA5" EXACT ABBREVIATION [DOID:0111214] synonym: "dSMA5" EXACT [Orphanet:314485] -synonym: "spinal muscular atrophy, distal, autosomal recessive, 5" RELATED [MONDO:Lexical, OMIM:614881] -synonym: "spinal muscular atrophy, distal, autosomal recessive, type 5" EXACT [MONDORULE:1, OMIM:614881] -synonym: "Young adult-onset dHMN" EXACT [Orphanet:314485] -synonym: "young adult-onset distal hereditary motor neuropathy" EXACT [Orphanet:314485] +synonym: "spinal muscular atrophy, distal, autosomal recessive, 5" RELATED [MONDO:Lexical] +synonym: "spinal muscular atrophy, distal, autosomal recessive, type 5" EXACT [MONDORULE:1] +synonym: "Young adult-onset dHMN" EXACT [DOID:0111214, Orphanet:314485] +synonym: "young adult-onset distal hereditary motor neuropathy" EXACT [DOID:0111214, Orphanet:314485] xref: DOID:0111214 {source="MONDO:equivalentTo"} xref: GARD:17421 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:314485/attributed", source="Orphanet:314485/ntbt", source="Orphanet:314485"} @@ -320571,10 +320631,10 @@ subset: gard_rare {source="GARD:15873", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PBD10A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614882] -synonym: "peroxisome biogenesis disorder 10A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614882] -synonym: "peroxisome biogenesis disorder, complementation group 12" RELATED [OMIM:614882] -synonym: "peroxisome biogenesis disorder, complementation group G" RELATED [OMIM:614882] +synonym: "PBD10A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 10A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080484, MONDO:Lexical, OMIM:614882] +synonym: "peroxisome biogenesis disorder, complementation group 12" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group G" RELATED [] xref: DOID:0080484 {source="MONDO:equivalentTo"} xref: GARD:15873 {source="MONDO:GARD"} xref: MEDGEN:766913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320594,10 +320654,10 @@ subset: gard_rare {source="GARD:15874", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PBD11A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614883] -synonym: "peroxisome biogenesis disorder 11A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614883] -synonym: "peroxisome biogenesis disorder, complementation group 13" RELATED [OMIM:614883] -synonym: "peroxisome biogenesis disorder, complementation group H" RELATED [OMIM:614883] +synonym: "PBD11A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 11A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080485, MONDO:Lexical, OMIM:614883] +synonym: "peroxisome biogenesis disorder, complementation group 13" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group H" RELATED [] xref: DOID:0080485 {source="MONDO:equivalentTo"} xref: GARD:15874 {source="MONDO:GARD"} xref: MEDGEN:766914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320616,9 +320676,9 @@ subset: gard_rare {source="GARD:15875", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PBD11B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614885] -synonym: "peroxisome biogenesis disorder 11B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614885] -synonym: "peroxisome biogenesis disorder type 11B" EXACT [MONDORULE:4, OMIM:614885] +synonym: "PBD11B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 11B" EXACT CLINGEN_LABEL [DOID:0081439, MONDO:Lexical, OMIM:614885] +synonym: "peroxisome biogenesis disorder type 11B" EXACT [MONDORULE:4] xref: DOID:0081439 {source="MONDO:equivalentTo"} xref: GARD:15875 {source="MONDO:GARD"} xref: MEDGEN:766915 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320639,12 +320699,12 @@ subset: gard_rare {source="GARD:15876", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cg14" RELATED [OMIM:614886] -synonym: "Cgj" RELATED [OMIM:614886] -synonym: "PBD12A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614886] -synonym: "peroxisome biogenesis disorder 12A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614886] -synonym: "peroxisome biogenesis disorder, complementation group 14" RELATED [OMIM:614886] -synonym: "peroxisome biogenesis disorder, complementation group J" RELATED [OMIM:614886] +synonym: "Cg14" RELATED [] +synonym: "Cgj" RELATED [] +synonym: "PBD12A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 12A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080486, MONDO:Lexical, OMIM:614886] +synonym: "peroxisome biogenesis disorder, complementation group 14" RELATED [] +synonym: "peroxisome biogenesis disorder, complementation group J" RELATED [] xref: DOID:0080486 {source="MONDO:equivalentTo"} xref: GARD:15876 {source="MONDO:GARD"} xref: MEDGEN:766916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320664,9 +320724,9 @@ subset: gard_rare {source="GARD:15877", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PBD13A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614887] -synonym: "peroxisome biogenesis disorder 13A (Zellweger)" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614887] -synonym: "peroxisome biogenesis disorder, complementation group K" RELATED [OMIM:614887] +synonym: "PBD13A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 13A (Zellweger)" EXACT CLINGEN_LABEL [DOID:0080487, MONDO:Lexical, OMIM:614887] +synonym: "peroxisome biogenesis disorder, complementation group K" RELATED [] xref: DOID:0080487 {source="MONDO:equivalentTo"} xref: GARD:15877 {source="MONDO:GARD"} xref: MEDGEN:766918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320686,12 +320746,12 @@ name: immunodeficiency 28 def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Ifngr2 deficiency" RELATED [OMIM:614889] +synonym: "Ifngr2 deficiency" RELATED [] synonym: "IFNGR2 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "IMD28" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614889] -synonym: "immunodeficiency 28" EXACT [MONDO:Lexical, OMIM:614889] -synonym: "immunodeficiency 28, Mycobacteriosis" RELATED [OMIM:614889] -synonym: "immunodeficiency type 28" EXACT [MONDORULE:2, OMIM:614889] +synonym: "IMD28" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 28" EXACT [DOID:0111995, MONDO:Lexical, OMIM:614889] +synonym: "immunodeficiency 28, Mycobacteriosis" RELATED [] +synonym: "immunodeficiency type 28" EXACT [MONDORULE:2] synonym: "primary immunodeficiency disease caused by mutation in IFNGR2" EXACT [MONDO:design_pattern] xref: DOID:0111995 {source="MONDO:equivalentTo"} xref: MEDGEN:862384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320716,14 +320776,14 @@ subset: predisposition subset: rare synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B" EXACT [] synonym: "IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "IL12B deficiency" RELATED [OMIM:614890] -synonym: "IMD29" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614890] -synonym: "immunodeficiency 29" RELATED [MONDO:Lexical, OMIM:614890] -synonym: "immunodeficiency 29, mycobacteriosis" EXACT [OMIM:614890, OMIM:genemap2] -synonym: "immunodeficiency type 29" EXACT [MONDORULE:2, OMIM:614890] -synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT [Orphanet:319558] -synonym: "MSMD due to complete IL12B deficiency" EXACT [Orphanet:319558] -synonym: "MSMD due to complete interleukin 12B deficiency" EXACT [Orphanet:319558] +synonym: "IL12B deficiency" RELATED [] +synonym: "IMD29" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 29" RELATED [MONDO:Lexical] +synonym: "immunodeficiency 29, mycobacteriosis" EXACT [DOID:0111950] +synonym: "immunodeficiency type 29" EXACT [MONDORULE:2] +synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT [DOID:0111950, Orphanet:319558] +synonym: "MSMD due to complete IL12B deficiency" EXACT [DOID:0111950, Orphanet:319558] +synonym: "MSMD due to complete interleukin 12B deficiency" EXACT [DOID:0111950, Orphanet:319558] xref: DOID:0111950 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.8 {source="Orphanet:319558/attributed", source="Orphanet:319558/ntbt", source="Orphanet:319558"} xref: MEDGEN:862385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320746,14 +320806,14 @@ subset: rare synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1" EXACT [] synonym: "IL-12Râ1 deficiency" RELATED [GARD:0010984] synonym: "IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "IL12RB1 deficiency" RELATED [OMIM:614891] -synonym: "IMD30" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614891] -synonym: "immunodeficiency 30" RELATED [MONDO:Lexical, OMIM:614891] -synonym: "immunodeficiency type 30" EXACT [MONDORULE:2, OMIM:614891] -synonym: "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" EXACT [Orphanet:319552] +synonym: "IL12RB1 deficiency" RELATED [] +synonym: "IMD30" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 30" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 30" EXACT [MONDORULE:2] +synonym: "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" EXACT [DOID:0111990, Orphanet:319552] synonym: "Mendelian susceptibility to mycobacterial infections due to IL12 deficiency" RELATED [GARD:0010984] -synonym: "MSMD due to complete IL12RB1 deficiency" EXACT [Orphanet:319552] -synonym: "MSMD due to complete interleukin 12 receptor beta 1 deficiency" EXACT [Orphanet:319552] +synonym: "MSMD due to complete IL12RB1 deficiency" EXACT [DOID:0111990, Orphanet:319552] +synonym: "MSMD due to complete interleukin 12 receptor beta 1 deficiency" EXACT [DOID:0111990, Orphanet:319552] xref: DOID:0111990 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.8 {source="Orphanet:319552", source="Orphanet:319552/attributed", source="Orphanet:319552/ntbt"} xref: MEDGEN:862386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320773,15 +320833,15 @@ subset: orphanet_rare {source="Orphanet:319595"} subset: predisposition subset: rare synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1" EXACT [] -synonym: "IMD31A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614892] -synonym: "immunodeficiency 31A" RELATED [MONDO:Lexical, OMIM:614892] -synonym: "immunodeficiency 31A, Mycobacteriosis, autosomal dominant" RELATED [OMIM:614892] -synonym: "immunodeficiency type 31A" EXACT [MONDORULE:4, OMIM:614892] -synonym: "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" EXACT [Orphanet:319595] -synonym: "MSMD due to partial signal transducer and activator of transcription 1 deficiency" EXACT [Orphanet:319595] -synonym: "MSMD due to partial STAT1 deficiency" EXACT [Orphanet:319595] +synonym: "IMD31A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 31A" RELATED [MONDO:Lexical] +synonym: "immunodeficiency 31A, Mycobacteriosis, autosomal dominant" RELATED [] +synonym: "immunodeficiency type 31A" EXACT [MONDORULE:4] +synonym: "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" EXACT [DOID:0111945, Orphanet:319595] +synonym: "MSMD due to partial signal transducer and activator of transcription 1 deficiency" EXACT [DOID:0111945, Orphanet:319595] +synonym: "MSMD due to partial STAT1 deficiency" EXACT [DOID:0111945, Orphanet:319595] synonym: "STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "Stat1 deficiency, autosomal dominant" RELATED [OMIM:614892] +synonym: "Stat1 deficiency, autosomal dominant" RELATED [] xref: DOID:0111945 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.8 {source="Orphanet:319595", source="Orphanet:319595/attributed", source="Orphanet:319595/ntbt"} xref: MEDGEN:862387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320802,16 +320862,16 @@ subset: orphanet_rare {source="Orphanet:319600"} subset: predisposition subset: rare synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8" EXACT [] -synonym: "CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant" RELATED [OMIM:614893] -synonym: "IMD32A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614893] -synonym: "immunodeficiency 32A" RELATED [MONDO:Lexical, OMIM:614893] -synonym: "immunodeficiency 32A, Mycobacteriosis, autosomal dominant" RELATED [OMIM:614893] -synonym: "immunodeficiency type 32A" EXACT [MONDORULE:4, OMIM:614893] +synonym: "CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant" RELATED [] +synonym: "IMD32A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 32A" RELATED [MONDO:Lexical] +synonym: "immunodeficiency 32A, Mycobacteriosis, autosomal dominant" RELATED [] +synonym: "immunodeficiency type 32A" EXACT [MONDORULE:4] synonym: "IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "IRF8 deficiency, autosomal dominant" RELATED [OMIM:614893] -synonym: "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT [Orphanet:319600] -synonym: "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT [Orphanet:319600] -synonym: "MSMD due to partial IRF8 deficiency" EXACT [Orphanet:319600] +synonym: "IRF8 deficiency, autosomal dominant" RELATED [] +synonym: "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT [DOID:0111986, Orphanet:319600] +synonym: "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT [DOID:0111986, Orphanet:319600] +synonym: "MSMD due to partial IRF8 deficiency" EXACT [DOID:0111986, Orphanet:319600] xref: DOID:0111986 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.8 {source="Orphanet:319600/attributed", source="Orphanet:319600/ntbt", source="Orphanet:319600"} xref: MEDGEN:814919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -320841,8 +320901,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in PRX" EXACT [] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in Prx" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4F" RELATED [MONDO:Lexical, OMIM:614895] -synonym: "Charcot-Marie-Tooth disease, type 4F" EXACT [OMIM:614895, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4F" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, type 4F" EXACT [] synonym: "CMT4F" EXACT ABBREVIATION [DOID:0110193, MONDO:Lexical, OMIM:614895, Orphanet:99952] synonym: "PRX Charcot-Marie-Tooth disease type 4" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Prx Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern] @@ -320874,8 +320934,8 @@ subset: ordo_disorder {source="Orphanet:324321"} subset: orphanet_rare {source="Orphanet:324321"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SANDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614896] -synonym: "sinoatrial node dysfunction and deafness" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614896] +synonym: "SANDD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "sinoatrial node dysfunction and deafness" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614896, Orphanet:324321] xref: GARD:17484 {source="MONDO:GARD"} xref: MEDGEN:766932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614896 {source="Orphanet:324321/e", source="MONDO:equivalentTo", source="Orphanet:324321"} @@ -320892,8 +320952,8 @@ name: hypogonadotropic hypogonadism 16 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15878", source="MONDO:GARD"} subset: rare -synonym: "HH16" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614897] -synonym: "hypogonadotropic hypogonadism 16 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614897] +synonym: "HH16" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 16 with or without anosmia" EXACT [DOID:0090080, MONDO:Lexical, OMIM:614897] synonym: "hypogonadotropic hypogonadism caused by mutation in SEMA3A" EXACT [MONDO:design_pattern] synonym: "SEMA3A hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090080 {source="MONDO:equivalentTo"} @@ -320920,10 +320980,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive complex spastic paraplegia caused by mutation in VPS37A" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 53" EXACT [DOID:0110805] -synonym: "autosomal recessive spastic paraplegia type 53" EXACT [DOID:0110805] -synonym: "hereditary spastic paraplegia 53" EXACT CLINGEN_LABEL [] -synonym: "hereditary spastic paraplegia type 53" EXACT [DOID:0110805, MONDORULE:2] -synonym: "spastic paraplegia 53, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614898] +synonym: "autosomal recessive spastic paraplegia type 53" EXACT [DOID:0110805, Orphanet:319199] +synonym: "hereditary spastic paraplegia 53" EXACT CLINGEN_LABEL [DOID:0110805] +synonym: "hereditary spastic paraplegia type 53" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 53, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG53" EXACT ABBREVIATION [DOID:0110805, MONDO:Lexical, OMIM:614898, Orphanet:319199] synonym: "VPS37A autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110805 {source="MONDO:equivalentTo"} @@ -320946,15 +321006,15 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22645", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 93" NARROW [DOID:0110537] -synonym: "autosomal recessive nonsyndromic deafness 93" NARROW [OMIM:614899] +synonym: "autosomal recessive deafness 93" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 93" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CABP2" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 93" NARROW [DOID:0110537, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 93" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 93" EXACT CLINGEN_LABEL [] synonym: "CABP2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 93" NARROW [MONDO:Lexical, OMIM:614899, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 93" NARROW [MONDORULE:2, OMIM:614899] -synonym: "DFNB93" NARROW ABBREVIATION [DOID:0110537, MONDO:Lexical, OMIM:614899] +synonym: "deafness, autosomal recessive 93" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 93" NARROW [MONDORULE:2] +synonym: "DFNB93" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110537 {source="MONDO:equivalentTo"} xref: GARD:22645 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110537"} @@ -320975,12 +321035,12 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15879", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614900] +synonym: "DBA11" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPL26" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 11" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 11" EXACT [MONDO:Lexical, OMIM:614900] +synonym: "Diamond-Blackfan anemia 11" EXACT [DOID:0111892, MONDO:Lexical, NCIT:C176920, OMIM:614900] synonym: "Diamond-Blackfan anemia caused by mutation in RPL26" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 11" EXACT [MONDORULE:2, OMIM:614900] +synonym: "Diamond-Blackfan Anemia type 11" EXACT [MONDORULE:2] synonym: "RPL26 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111892 {source="MONDO:equivalentTo"} @@ -321001,10 +321061,10 @@ def: "Any lethal congenital contracture syndrome in which the cause of the disea subset: gard_rare {source="GARD:12645", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "LCCS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614915] -synonym: "lethal congenital contracture syndrome 4" EXACT [MONDO:Lexical, OMIM:614915] +synonym: "LCCS4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lethal congenital contracture syndrome 4" EXACT [DOID:0060654, MONDO:Lexical, OMIM:614915] synonym: "lethal congenital contracture syndrome caused by mutation in MYBPC1" EXACT [MONDO:design_pattern] -synonym: "lethal congenital contracture syndrome type 4" EXACT [DOID:0060654, MONDORULE:1, OMIM:614915] +synonym: "lethal congenital contracture syndrome type 4" EXACT [MONDORULE:1] synonym: "MYBPC1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060654 {source="MONDO:equivalentTo"} xref: GARD:12645 {source="MONDO:GARD"} @@ -321025,13 +321085,13 @@ def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cau subset: gard_rare {source="GARD:15880", source="MONDO:GARD"} subset: rare synonym: "CALM1 catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "catecholaminergic polymorphic ventricular tachycardia 4" EXACT CLINGEN_LABEL [] +synonym: "catecholaminergic polymorphic ventricular tachycardia 4" EXACT CLINGEN_LABEL [DOID:0060678] synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1" EXACT [MONDO:design_pattern] -synonym: "catecholaminergic polymorphic ventricular tachycardia type 4" EXACT [DOID:0060678, MONDORULE:1] -synonym: "CPVT4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614916] +synonym: "catecholaminergic polymorphic ventricular tachycardia type 4" EXACT [MONDORULE:1] +synonym: "CPVT4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CVPT4" EXACT ABBREVIATION [DOID:0060678] -synonym: "ventricular tachycardia, catecholaminergic polymorphic, 4" RELATED [MONDO:Lexical, OMIM:614916] -synonym: "ventricular tachycardia, catecholaminergic polymorphic, type 4" EXACT [MONDORULE:1, OMIM:614916] +synonym: "ventricular tachycardia, catecholaminergic polymorphic, 4" RELATED [MONDO:Lexical] +synonym: "ventricular tachycardia, catecholaminergic polymorphic, type 4" EXACT [MONDORULE:1] xref: DOID:0060678 {source="MONDO:equivalentTo"} xref: GARD:15880 {source="MONDO:GARD"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060678"} @@ -321051,10 +321111,10 @@ subset: gard_rare {source="GARD:15881", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "peroxisome biogenesis disorder 14B" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614920] -synonym: "peroxisome biogenesis disorder type 14B" EXACT [MONDORULE:4, OMIM:614920] +synonym: "peroxisome biogenesis disorder 14B" EXACT CLINGEN_LABEL [DOID:0081274, MONDO:Lexical, OMIM:614920] +synonym: "peroxisome biogenesis disorder type 14B" EXACT [MONDORULE:4] synonym: "PEX11B peroxisome biogenesis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PEX14B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614920] +synonym: "PEX14B" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081274 {source="MONDO:equivalentTo"} xref: GARD:15881 {source="MONDO:GARD"} xref: MEDGEN:766969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -321078,22 +321138,22 @@ subset: ordo_disorder {source="Orphanet:319646"} subset: orphanet_rare {source="Orphanet:319646"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDG it" RELATED [OMIM:614921] +synonym: "CDG it" RELATED [] synonym: "CDG syndrome type It" EXACT [Orphanet:319646] synonym: "CDG-It" EXACT [Orphanet:319646] synonym: "CDG1T" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614921, Orphanet:319646] synonym: "congenital disorder of glycosylation type 1t" EXACT [Orphanet:319646] synonym: "congenital disorder of glycosylation type It" EXACT [Orphanet:319646] -synonym: "congenital disorder of glycosylation, type It" RELATED [MONDO:Lexical, OMIM:614921] -synonym: "glycogen storage disease 14" RELATED [OMIM:614921] +synonym: "congenital disorder of glycosylation, type It" RELATED [MONDO:Lexical] +synonym: "glycogen storage disease 14" RELATED [] synonym: "glycogen storage disease due to phosphoglucomutase deficiency" RELATED [GARD:0004329] -synonym: "GSD 14" RELATED [OMIM:614921] +synonym: "GSD 14" RELATED [] synonym: "GSD type 14" RELATED [GARD:0004329] synonym: "GSDXIV" RELATED ABBREVIATION [GARD:0004329] -synonym: "Pgm1 deficiency" RELATED [OMIM:614921] +synonym: "Pgm1 deficiency" RELATED [] synonym: "PGM1-CDG" EXACT ABBREVIATION [Orphanet:319646] synonym: "PGM1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] -synonym: "phosphoglucomutase 1 deficiency" RELATED [OMIM:614921] +synonym: "phosphoglucomutase 1 deficiency" RELATED [] synonym: "phosphoglucomutase deficiency type 1" RELATED [GARD:0004329] synonym: "phosphoglucomutase-1 deficiency" EXACT [Orphanet:319646] synonym: "type 14 glycogenosis" RELATED [GARD:0004329] @@ -321124,12 +321184,12 @@ subset: ordo_disorder {source="Orphanet:324535"} subset: orphanet_rare {source="Orphanet:324535"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation defect type 11" EXACT CLINGEN_LABEL [] -synonym: "combined oxidative phosphorylation deficiency 11" RELATED [MONDO:Lexical, OMIM:614922] +synonym: "combined oxidative phosphorylation defect type 11" EXACT CLINGEN_LABEL [Orphanet:324535] +synonym: "combined oxidative phosphorylation deficiency 11" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in RMND1" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 11" EXACT [MONDORULE:2, OMIM:614922] -synonym: "COXPD11" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614922, Orphanet:324535] -synonym: "Encephaloneuromyopathy, infantile, due to mitochondrial translation defect" RELATED [OMIM:614922] +synonym: "combined oxidative phosphorylation deficiency type 11" EXACT [MONDORULE:2] +synonym: "COXPD11" EXACT ABBREVIATION [DOID:0111481, MONDO:Lexical, OMIM:614922, Orphanet:324535] +synonym: "Encephaloneuromyopathy, infantile, due to mitochondrial translation defect" RELATED [] synonym: "RMND1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111481 {source="MONDO:equivalentTo"} xref: GARD:17487 {source="MONDO:GARD"} @@ -321155,12 +321215,12 @@ subset: ordo_disorder {source="Orphanet:308410"} subset: orphanet_rare {source="Orphanet:308410"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" EXACT [DOID:0090126] -synonym: "BCKDK deficiency" EXACT [DOID:0090126] -synonym: "Bckdk deficiency" RELATED [OMIM:614923] +synonym: "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" EXACT [] +synonym: "BCKDK deficiency" EXACT [DOID:0090126, OMIM:614923] +synonym: "Bckdk deficiency" RELATED [] synonym: "BCKDKD" EXACT ABBREVIATION [DOID:0090126, MONDO:Lexical, OMIM:614923] -synonym: "branched-chain KETO acid dehydrogenase KINASE deficiency" RELATED [OMIM:614923] -synonym: "branched-chain keto acid dehydrogenase kinase deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614923] +synonym: "branched-chain KETO acid dehydrogenase KINASE deficiency" RELATED [] +synonym: "branched-chain keto acid dehydrogenase kinase deficiency" EXACT CLINGEN_LABEL [DOID:0090126, MONDO:Lexical, OMIM:614923] xref: DOID:0090126 {source="MONDO:equivalentTo"} xref: GARD:17389 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="DOID:0090126", source="Orphanet:308410/attributed", source="Orphanet:308410/ntbt", source="Orphanet:308410"} @@ -321186,14 +321246,14 @@ subset: orphanet_rare {source="Orphanet:314051"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "combined oxidative phosphorylation defect type 12" EXACT [Orphanet:314051] -synonym: "combined oxidative phosphorylation deficiency 12" RELATED [MONDO:Lexical, OMIM:614924] +synonym: "combined oxidative phosphorylation deficiency 12" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in EARS2" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 12" EXACT [MONDORULE:2, OMIM:614924] -synonym: "COXPD12" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614924, Orphanet:314051] +synonym: "combined oxidative phosphorylation deficiency type 12" EXACT [MONDORULE:2] +synonym: "COXPD12" EXACT ABBREVIATION [DOID:0111493, MONDO:Lexical, OMIM:614924, Orphanet:314051] synonym: "EARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "leukoencephalopathy with thalamus and brainstem involvement and high lactate" RELATED [OMIM:614924] -synonym: "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" EXACT CLINGEN_LABEL [] -synonym: "LTBL" EXACT ABBREVIATION [Orphanet:314051] +synonym: "leukoencephalopathy with thalamus and brainstem involvement and high lactate" RELATED [] +synonym: "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" EXACT CLINGEN_LABEL [DOID:0111493, Orphanet:314051] +synonym: "LTBL" EXACT ABBREVIATION [DOID:0111493, Orphanet:314051] xref: DOID:0111493 {source="MONDO:equivalentTo"} xref: GARD:12893 {source="MONDO:GARD"} xref: MEDGEN:1645614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -321221,8 +321281,8 @@ subset: rare synonym: "HARS2 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Perrault syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614926] synonym: "Perrault syndrome caused by mutation in HARS2" EXACT [MONDO:design_pattern] -synonym: "Perrault syndrome type 2" EXACT [MONDORULE:1, OMIM:614926, Orphanet:642976] -synonym: "PRLTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614926] +synonym: "Perrault syndrome type 2" EXACT [MONDORULE:1, Orphanet:642976] +synonym: "PRLTS2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15882 {source="MONDO:GARD"} xref: MEDGEN:767019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614926 {source="MONDO:equivalentTo"} @@ -321242,8 +321302,8 @@ name: ectodermal dysplasia 5, hair/nail type subset: gard_rare {source="GARD:18063", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614927] -synonym: "ectodermal dysplasia 5, hair/nail type" EXACT [MONDO:Lexical, OMIM:614927] +synonym: "ECTD5" EXACT ABBREVIATION [DOID:0111657, MONDO:Lexical, OMIM:614927] +synonym: "ectodermal dysplasia 5, hair/nail type" EXACT [DOID:0111657, MONDO:Lexical, OMIM:614927] xref: DOID:0111657 {source="MONDO:equivalentTo"} xref: GARD:18063 {source="MONDO:GARD"} xref: MEDGEN:767022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -321257,8 +321317,8 @@ name: ectodermal dysplasia 6, hair/nail type subset: gard_rare {source="GARD:18064", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614928] -synonym: "ectodermal dysplasia 6, hair/nail type" EXACT [MONDO:Lexical, OMIM:614928] +synonym: "ECTD6" EXACT ABBREVIATION [DOID:0111659, MONDO:Lexical, OMIM:614928] +synonym: "ectodermal dysplasia 6, hair/nail type" EXACT [DOID:0111659, MONDO:Lexical, OMIM:614928] xref: DOID:0111659 {source="MONDO:equivalentTo"} xref: GARD:18064 {source="MONDO:GARD"} xref: MEDGEN:767025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -321275,8 +321335,8 @@ def: "Any pure hair and nail ectodermal dysplasia in which the cause of the dise subset: gard_rare {source="GARD:18065", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614929] -synonym: "ectodermal dysplasia 7, hair/nail type" EXACT [MONDO:Lexical, OMIM:614929] +synonym: "ECTD7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ectodermal dysplasia 7, hair/nail type" EXACT [DOID:0111660, MONDO:Lexical, OMIM:614929] synonym: "KRT74 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pure hair and nail ectodermal dysplasia caused by mutation in KRT74" EXACT [MONDO:design_pattern] xref: DOID:0111660 {source="MONDO:equivalentTo"} @@ -321298,8 +321358,8 @@ def: "Any pure hair and nail ectodermal dysplasia in which the cause of the dise subset: gard_rare {source="GARD:18066", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614931] -synonym: "ectodermal dysplasia 9, hair/nail type" EXACT [MONDO:Lexical, OMIM:614931] +synonym: "ECTD9" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ectodermal dysplasia 9, hair/nail type" EXACT [DOID:0111656, MONDO:Lexical, OMIM:614931] synonym: "HOXC13 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pure hair and nail ectodermal dysplasia caused by mutation in HOXC13" EXACT [MONDO:design_pattern] xref: DOID:0111656 {source="MONDO:equivalentTo"} @@ -321324,10 +321384,10 @@ subset: ordo_disorder {source="Orphanet:319514"} subset: orphanet_rare {source="Orphanet:319514"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 13" RELATED [MONDO:Lexical, OMIM:614932] +synonym: "combined oxidative phosphorylation deficiency 13" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in PNPT1" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 13" EXACT [MONDORULE:2, OMIM:614932] -synonym: "COXPD13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614932, Orphanet:319514] +synonym: "combined oxidative phosphorylation deficiency type 13" EXACT [MONDORULE:2] +synonym: "COXPD13" EXACT ABBREVIATION [DOID:0111467, MONDO:Lexical, OMIM:614932, Orphanet:319514] synonym: "PNPT1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111467 {source="MONDO:equivalentTo"} xref: GARD:17454 {source="MONDO:GARD"} @@ -321350,13 +321410,13 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22646", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 70" NARROW [DOID:0110521] -synonym: "autosomal recessive nonsyndromic deafness 70" NARROW [OMIM:614934] +synonym: "autosomal recessive deafness 70" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 70" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PNPT1" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 70" NARROW [DOID:0110521, MONDORULE:2] -synonym: "deafness, autosomal recessive 70" NARROW [MONDO:Lexical, OMIM:614934, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 70" NARROW [MONDORULE:2, OMIM:614934] -synonym: "DFNB70" NARROW ABBREVIATION [DOID:0110521, MONDO:Lexical, OMIM:614934] +synonym: "autosomal recessive nonsyndromic deafness type 70" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 70" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 70" NARROW [MONDORULE:2] +synonym: "DFNB70" NARROW ABBREVIATION [MONDO:Lexical] synonym: "PNPT1 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110521 {source="MONDO:equivalentTo"} xref: GARD:22646 {source="MONDO:GARD"} @@ -321380,14 +321440,14 @@ subset: gard_rare {source="GARD:15883", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD19" EXACT ABBREVIATION [DOID:0110608, MONDO:Lexical, OMIM:614935] -synonym: "ciliary dyskinesia, primary, 19" RELATED [MONDO:Lexical, OMIM:614935] -synonym: "ciliary dyskinesia, primary, 19, with or without situs inversus" RELATED [OMIM:614935] -synonym: "ciliary dyskinesia, primary, type 19" EXACT [MONDORULE:2, OMIM:614935] +synonym: "ciliary dyskinesia, primary, 19" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 19, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 19" EXACT [MONDORULE:2] synonym: "LRRC6 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "primary ciliary dyskinesia 19" EXACT CLINGEN_LABEL [] +synonym: "primary ciliary dyskinesia 19" EXACT CLINGEN_LABEL [DOID:0110608] synonym: "primary ciliary dyskinesia 19 with or without situs inversus" EXACT [DOID:0110608] synonym: "primary ciliary dyskinesia caused by mutation in LRRC6" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 19" EXACT [DOID:0110608, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 19" EXACT [MONDORULE:2] xref: DOID:0110608 {source="MONDO:equivalentTo"} xref: GARD:15883 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110608"} @@ -321406,8 +321466,8 @@ name: palmoplantar keratoderma, punctate type ib subset: gard_rare {source="GARD:15884", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "keratoderma, palmoplantar, punctate type IB" EXACT [OMIM:614936, OMIM:genemap2] -synonym: "palmoplantar keratoderma, punctate type IB" RELATED [MONDO:Lexical, OMIM:614936] +synonym: "keratoderma, palmoplantar, punctate type IB" EXACT [] +synonym: "palmoplantar keratoderma, punctate type IB" RELATED [MONDO:Lexical] synonym: "PPKP1B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614936] xref: GARD:15884 {source="MONDO:GARD"} xref: MEDGEN:767059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -321427,10 +321487,10 @@ subset: ordo_disorder {source="Orphanet:319189"} subset: orphanet_rare {source="Orphanet:319189"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial cortical myoclonus" EXACT [OMIM:614937] -synonym: "familial myoclonus" EXACT [OMIMPS:614937] -synonym: "FCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614937] -synonym: "myoclonus, familial cortical" EXACT [MONDO:Lexical, OMIM:614937] +synonym: "familial cortical myoclonus" EXACT [Orphanet:319189] +synonym: "familial myoclonus" EXACT [] +synonym: "FCM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myoclonus, familial cortical" EXACT [MONDO:Lexical] xref: GARD:17444 {source="MONDO:GARD"} xref: ICD10CM:G25.3 {source="Orphanet:319189", source="Orphanet:319189/attributed", source="Orphanet:319189/ntbt"} xref: OMIMPS:614937 {source="MONDO:equivalentTo", source="Orphanet:319189", source="Orphanet:319189/e"} @@ -321446,9 +321506,9 @@ name: ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant subset: gard_rare {source="GARD:18592", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD11A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614940] -synonym: "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614940] -synonym: "ectodermal dysplasia, hypohidrotic, autosomal dominant" RELATED [OMIM:614940] +synonym: "ECTD11A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" EXACT [DOID:0111653, MONDO:Lexical, OMIM:614940] +synonym: "ectodermal dysplasia, hypohidrotic, autosomal dominant" RELATED [] xref: DOID:0111653 {source="MONDO:equivalentTo"} xref: GARD:18592 {source="MONDO:GARD"} xref: MEDGEN:762105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -321466,10 +321526,10 @@ name: ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessiv subset: gard_rare {source="GARD:15885", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD11B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614941] -synonym: "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614941] -synonym: "ectodermal dysplasia, anhidrotic" RELATED [OMIM:614941] -synonym: "ectodermal dysplasia, hypohidrotic" RELATED [OMIM:614941] +synonym: "ECTD11B" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [DOID:0111654, MONDO:Lexical, OMIM:614941] +synonym: "ectodermal dysplasia, anhidrotic" RELATED [] +synonym: "ectodermal dysplasia, hypohidrotic" RELATED [] xref: DOID:0111654 {source="MONDO:equivalentTo"} xref: GARD:15885 {source="MONDO:GARD"} xref: MEDGEN:761671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -321488,15 +321548,15 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22647", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 84B" NARROW [DOID:0110530] -synonym: "autosomal recessive nonsyndromic deafness 84B" NARROW [OMIM:614944] +synonym: "autosomal recessive deafness 84B" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 84B" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOGL" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 84B" NARROW [DOID:0110530, MONDORULE:4] +synonym: "autosomal recessive nonsyndromic deafness type 84B" NARROW [MONDORULE:4] synonym: "autosomal recessive nonsyndromic hearing loss 84B" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 84B" NARROW [MONDO:Lexical, OMIM:614944] -synonym: "deafness, autosomal recessive 84b" NARROW [OMIM:614944, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 84B" NARROW [MONDORULE:4, OMIM:614944] -synonym: "DFNB84B" NARROW ABBREVIATION [DOID:0110530, MONDO:Lexical, OMIM:614944] +synonym: "deafness, autosomal recessive 84B" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive 84b" NARROW [] +synonym: "deafness, autosomal recessive type 84B" NARROW [MONDORULE:4] +synonym: "DFNB84B" NARROW ABBREVIATION [MONDO:Lexical] synonym: "OTOGL autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110530 {source="MONDO:equivalentTo"} xref: GARD:22647 {source="MONDO:GARD"} @@ -321518,15 +321578,15 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22648", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 18B" NARROW [DOID:0110474] -synonym: "autosomal recessive nonsyndromic deafness 18B" NARROW [OMIM:614945] +synonym: "autosomal recessive deafness 18B" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 18B" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOG" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 18B" NARROW [DOID:0110474, MONDORULE:4] +synonym: "autosomal recessive nonsyndromic deafness type 18B" NARROW [MONDORULE:4] synonym: "autosomal recessive nonsyndromic hearing loss 18B" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 18B" NARROW [MONDO:Lexical, OMIM:614945] -synonym: "deafness, autosomal recessive 18b" NARROW [OMIM:614945, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 18B" NARROW [MONDORULE:4, OMIM:614945] -synonym: "DFNB18B" NARROW ABBREVIATION [DOID:0110474, MONDO:Lexical, OMIM:614945] +synonym: "deafness, autosomal recessive 18B" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive 18b" NARROW [] +synonym: "deafness, autosomal recessive type 18B" NARROW [MONDORULE:4] +synonym: "DFNB18B" NARROW ABBREVIATION [MONDO:Lexical] synonym: "OTOG autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110474 {source="MONDO:equivalentTo"} xref: GARD:22648 {source="MONDO:GARD"} @@ -321551,10 +321611,10 @@ subset: ordo_disorder {source="Orphanet:319519"} subset: orphanet_rare {source="Orphanet:319519"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 14" RELATED [MONDO:Lexical, OMIM:614946] +synonym: "combined oxidative phosphorylation deficiency 14" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in FARS2" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 14" EXACT [MONDORULE:2, OMIM:614946] -synonym: "COXPD14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614946, Orphanet:319519] +synonym: "combined oxidative phosphorylation deficiency type 14" EXACT [MONDORULE:2] +synonym: "COXPD14" EXACT ABBREVIATION [DOID:0111477, MONDO:Lexical, OMIM:614946, Orphanet:319519] synonym: "FARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111477 {source="MONDO:equivalentTo"} xref: GARD:17455 {source="MONDO:GARD"} @@ -321579,11 +321639,11 @@ subset: ordo_disorder {source="Orphanet:319524"} subset: orphanet_rare {source="Orphanet:319524"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation defect type 15" EXACT CLINGEN_LABEL [] -synonym: "combined oxidative phosphorylation deficiency 15" RELATED [MONDO:Lexical, OMIM:614947] +synonym: "combined oxidative phosphorylation defect type 15" EXACT CLINGEN_LABEL [Orphanet:319524] +synonym: "combined oxidative phosphorylation deficiency 15" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MTFMT" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 15" EXACT [MONDORULE:2, OMIM:614947] -synonym: "COXPD15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614947, Orphanet:319524] +synonym: "combined oxidative phosphorylation deficiency type 15" EXACT [MONDORULE:2] +synonym: "COXPD15" EXACT ABBREVIATION [DOID:0111491, MONDO:Lexical, OMIM:614947, Orphanet:319524] synonym: "MTFMT combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111491 {source="MONDO:equivalentTo"} xref: GARD:17456 {source="MONDO:GARD"} @@ -321604,7 +321664,7 @@ id: MONDO:0013988 name: congenital heart defects, multiple types, 3 synonym: "CHTD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614954] synonym: "congenital heart defects, multiple types, 3" EXACT [MONDO:Lexical, OMIM:614954] -synonym: "congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances" RELATED [OMIM:614954] +synonym: "congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances" RELATED [] xref: MEDGEN:767108 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614954 {source="MONDO:equivalentTo"} xref: UMLS:C3554194 {source="MONDO:equivalentTo", source="MEDGEN:767108", source="MONDO:MEDGEN"} @@ -321621,12 +321681,12 @@ subset: gard_rare {source="GARD:15886", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE14" EXACT ABBREVIATION [OMIM:614959] -synonym: "developmental and epileptic encephalopathy 14" EXACT [OMIM:614959, OMIM:genemap2] +synonym: "DEE14" EXACT ABBREVIATION [DOID:0080439, OMIM:614959] +synonym: "developmental and epileptic encephalopathy 14" EXACT [DOID:0080439, OMIM:614959] synonym: "early infantile epileptic encephalopathy caused by mutation in KCNT1" EXACT [MONDO:design_pattern] -synonym: "EIEE14" EXACT ABBREVIATION [OMIM:614959] +synonym: "EIEE14" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 14" EXACT [MONDO:Lexical, OMIM:614959] -synonym: "epileptic encephalopathy, early infantile, type 14" EXACT [MONDORULE:2, OMIM:614959] +synonym: "epileptic encephalopathy, early infantile, type 14" EXACT [MONDORULE:2] synonym: "KCNT1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080439 {source="MONDO:equivalentTo"} xref: GARD:15886 {source="MONDO:GARD"} @@ -321655,8 +321715,8 @@ synonym: "CHMP1A non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_p synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A" EXACT [MONDO:design_pattern] synonym: "PCH8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614961, Orphanet:324569] synonym: "pontocerebellar hypoplasia due to CHMP1A mutation" EXACT [Orphanet:324569] -synonym: "pontocerebellar hypoplasia type 8" EXACT CLINGEN_LABEL [] -synonym: "pontocerebellar hypoplasia, type 8" RELATED [MONDO:Lexical, OMIM:614961] +synonym: "pontocerebellar hypoplasia type 8" EXACT CLINGEN_LABEL [DOID:0060277, Orphanet:324569] +synonym: "pontocerebellar hypoplasia, type 8" RELATED [MONDO:Lexical] xref: DOID:0060277 {source="MONDO:equivalentTo"} xref: GARD:17488 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:324569/attributed", source="Orphanet:324569/ntbt", source="DOID:0060277", source="Orphanet:324569"} @@ -321679,11 +321739,11 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:110641"} subset: ordo_subtype_of_a_disorder {source="Orphanet:66628"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Congenital Leptin Deficiency" EXACT [NORD:110641] -synonym: "LEPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614962] -synonym: "leptin deficiency or dysfunction" RELATED [GARD:0013015, MONDO:Lexical, OMIM:614962] -synonym: "obesity, morbid, due to leptin deficiency" EXACT [OMIM:614962, OMIM:genemap2] -synonym: "obesity, morbid, nonsyndromic 1" RELATED [OMIM:614962] +synonym: "Congenital Leptin Deficiency" EXACT [DOID:0111334, NORD:110641] +synonym: "LEPD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "leptin deficiency or dysfunction" RELATED [GARD:0013015, MONDO:Lexical] +synonym: "obesity, morbid, due to leptin deficiency" EXACT [] +synonym: "obesity, morbid, nonsyndromic 1" RELATED [] xref: DOID:0111334 {source="MONDO:equivalentTo"} xref: GARD:13015 {source="MONDO:GARD"} xref: ICD10CM:E66.8 {source="Orphanet:66628", source="Orphanet:66628/attributed", source="Orphanet:66628/ntbt"} @@ -321710,10 +321770,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:179494"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "LEPR Deficiency" EXACT [NORD:109401] -synonym: "leptin receptor deficiency" RELATED [OMIM:614963] -synonym: "obesity due to leptin receptor gene deficiency" EXACT CLINGEN_LABEL [] -synonym: "obesity, morbid, due to leptin receptor deficiency" EXACT [OMIM:614963, OMIM:genemap2] -synonym: "obesity, morbid, nonsyndromic 2" RELATED [OMIM:614963] +synonym: "leptin receptor deficiency" RELATED [] +synonym: "obesity due to leptin receptor gene deficiency" EXACT CLINGEN_LABEL [icd11.foundation:997823205, Orphanet:179494] +synonym: "obesity, morbid, due to leptin receptor deficiency" EXACT [] +synonym: "obesity, morbid, nonsyndromic 2" RELATED [] xref: GARD:17083 {source="MONDO:GARD"} xref: ICD10CM:E66.8 {source="Orphanet:179494/attributed", source="Orphanet:179494/ntbt", source="Orphanet:179494"} xref: icd11.foundation:997823205 {source="MONDO:equivalentTo"} @@ -321743,7 +321803,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1" EXACT [MONDO:design_pattern] synonym: "PCH7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614969, Orphanet:284339] -synonym: "pontocerebellar hypoplasia, type 7" RELATED [MONDO:Lexical, OMIM:614969] +synonym: "pontocerebellar hypoplasia, type 7" RELATED [MONDO:Lexical] synonym: "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome" EXACT [Orphanet:284339] synonym: "TOE1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060276 {source="MONDO:equivalentTo"} @@ -321767,9 +321827,9 @@ subset: gard_rare {source="GARD:15887", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS20" EXACT ABBREVIATION [DOID:0110989, MONDO:Lexical, OMIM:614970] -synonym: "Joubert syndrome 20" EXACT [MONDO:Lexical, OMIM:614970] +synonym: "Joubert syndrome 20" EXACT [DOID:0110989, MONDO:Lexical, OMIM:614970] synonym: "Joubert syndrome caused by mutation in TMEM231" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 20" EXACT [DOID:0110989, MONDORULE:2, OMIM:614970] +synonym: "Joubert syndrome type 20" EXACT [MONDORULE:2] synonym: "TMEM231 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110989 {source="MONDO:equivalentTo"} xref: GARD:15887 {source="MONDO:GARD"} @@ -321791,8 +321851,8 @@ subset: gard_rare {source="GARD:15888", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cholestasis, intrahepatic, of pregnancy 3" EXACT [MONDO:Lexical, OMIM:614972] -synonym: "cholestasis, intrahepatic, of pregnancy type 3" EXACT [MONDORULE:1, OMIM:614972] -synonym: "ICP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614972] +synonym: "cholestasis, intrahepatic, of pregnancy type 3" EXACT [MONDORULE:1] +synonym: "ICP3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070229 {source="MONDO:equivalentTo"} xref: GARD:15888 {source="MONDO:GARD"} xref: MEDGEN:767155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -321813,7 +321873,7 @@ subset: nord_rare {source="NORD:1704", source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:398173"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Brauer-Setleis syndrome" RELATED [OMIM:614973] +synonym: "Brauer-Setleis syndrome" RELATED [] synonym: "FFDD type II" EXACT [Orphanet:398173] synonym: "FFDD2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614973, Orphanet:398173] synonym: "focal facial dermal dysplasia 2, Brauer-Setleis type" EXACT [MONDO:Lexical, OMIM:614973, Orphanet:398173] @@ -321841,7 +321901,7 @@ subset: rare synonym: "FFDD type IV" EXACT [Orphanet:398189] synonym: "FFDD4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614974, Orphanet:398189] synonym: "focal facial dermal dysplasia 4" EXACT [MONDO:Lexical, OMIM:614974, Orphanet:398189] -synonym: "focal Facial dermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614974] +synonym: "focal Facial dermal dysplasia type 4" EXACT [MONDORULE:1] synonym: "focal facial preauricular dysplasia" EXACT [Orphanet:398189] xref: GARD:17650 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:398189/attributed", source="Orphanet:398189/ntbt", source="Orphanet:398189"} @@ -321861,11 +321921,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15889", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CARPENTER syndrome 2" RELATED [OMIM:614976] +synonym: "CARPENTER syndrome 2" RELATED [] synonym: "Carpenter syndrome 2" EXACT [MONDO:Lexical, OMIM:614976] synonym: "Carpenter syndrome caused by mutation in MEGF8" EXACT [MONDO:design_pattern] -synonym: "Carpenter syndrome type 2" EXACT [MONDORULE:1, OMIM:614976] -synonym: "CRPT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614976] +synonym: "Carpenter syndrome type 2" EXACT [MONDORULE:1] +synonym: "CRPT2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MEGF8 Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15889 {source="MONDO:GARD"} xref: MEDGEN:767161 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -321892,9 +321952,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "optic nerve edema-splenomegaly syndrome" EXACT [Orphanet:313800] synonym: "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache" EXACT CLINGEN_LABEL [https://orcid.org/0000-0002-0146-1162] -synonym: "ROSAH" EXACT ABBREVIATION [https://orcid.org/0000-0002-0146-1162] -synonym: "ROSAH syndrome" EXACT [OMIM:614979, OMIM:genemap2] -synonym: "splenomegaly, cytopenia, and vision loss" RELATED [OMIM:614979] +synonym: "ROSAH" EXACT ABBREVIATION [https://orcid.org/0000-0002-0146-1162, OMIM:614979] +synonym: "ROSAH syndrome" EXACT [Orphanet:313800] +synonym: "splenomegaly, cytopenia, and vision loss" RELATED [] xref: GARD:17411 {source="MONDO:GARD"} xref: MEDGEN:1662266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614979 {source="Orphanet:313800", source="MONDO:equivalentTo", source="Orphanet:313800/e"} @@ -321912,9 +321972,9 @@ def: "Any congenital heart malformation in which the cause of the disease is a m subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CHTD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614980] +synonym: "CHTD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "congenital heart defects, multiple types, 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:614980] -synonym: "congenital heart defects, nonsyndromic, 2" EXACT [OMIM:614980, OMIM:genemap2] +synonym: "congenital heart defects, nonsyndromic, 2" EXACT [] synonym: "congenital heart malformation caused by mutation in TAB2" EXACT [MONDO:design_pattern] synonym: "TAB2 congenital heart malformation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:767193 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -321938,7 +321998,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "USH1K" EXACT ABBREVIATION [DOID:0110837, MONDO:Lexical, OMIM:614990] synonym: "Usher syndrome type IK" EXACT [DOID:0110837] -synonym: "USHER syndrome, type IK" RELATED [MONDO:Lexical, OMIM:614990] +synonym: "USHER syndrome, type IK" RELATED [MONDO:Lexical] xref: DOID:0110837 {source="MONDO:equivalentTo"} xref: GARD:15890 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110837"} @@ -321960,11 +322020,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 5" EXACT [DOID:0060686, MONDORULE:1] +synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 5" EXACT [MONDORULE:1] synonym: "ENFL5" EXACT ABBREVIATION [DOID:0060686, MONDO:Lexical, OMIM:615005] -synonym: "epilepsy nocturnal frontal lobe, 5" EXACT [OMIM:615005, OMIM:genemap2] -synonym: "epilepsy, nocturnal frontal lobe, 5" RELATED [MONDO:Lexical, OMIM:615005] -synonym: "epilepsy, nocturnal frontal lobe, type 5" EXACT [MONDORULE:1, OMIM:615005] +synonym: "epilepsy nocturnal frontal lobe, 5" EXACT [] +synonym: "epilepsy, nocturnal frontal lobe, 5" RELATED [MONDO:Lexical] +synonym: "epilepsy, nocturnal frontal lobe, type 5" EXACT [MONDORULE:1] synonym: "KCNT1 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nocturnal frontal lobe epilepsy 5" EXACT [DOID:0060686] xref: DOID:0060686 {source="MONDO:equivalentTo"} @@ -321986,11 +322046,11 @@ name: developmental and epileptic encephalopathy, 15 subset: gard_rare {source="GARD:15892", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE15" EXACT ABBREVIATION [OMIM:615006] -synonym: "developmental and epileptic encephalopathy 15" EXACT [OMIM:615006, OMIM:genemap2] -synonym: "EIEE15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615006] +synonym: "DEE15" EXACT ABBREVIATION [DOID:0080414, OMIM:615006] +synonym: "developmental and epileptic encephalopathy 15" EXACT [DOID:0080414, OMIM:615006] +synonym: "EIEE15" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 15" EXACT [MONDO:Lexical, OMIM:615006] -synonym: "epileptic encephalopathy, early infantile, type 15" EXACT [MONDORULE:2, OMIM:615006] +synonym: "epileptic encephalopathy, early infantile, type 15" EXACT [MONDORULE:2] xref: DOID:0080414 {source="MONDO:equivalentTo"} xref: GARD:15892 {source="MONDO:GARD"} xref: MEDGEN:767230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -322008,8 +322068,8 @@ name: basal ganglia calcification, idiopathic, 4 subset: gard_rare {source="GARD:15893", source="MONDO:GARD"} subset: rare synonym: "basal ganglia calcification, idiopathic, 4" EXACT [MONDO:Lexical, OMIM:615007] -synonym: "basal ganglia calcification, idiopathic, type 4" EXACT [MONDORULE:1, OMIM:615007] -synonym: "IBGC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615007] +synonym: "basal ganglia calcification, idiopathic, type 4" EXACT [MONDORULE:1] +synonym: "IBGC4" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15893 {source="MONDO:GARD"} xref: MEDGEN:767235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615007 {source="MONDO:equivalentTo"} @@ -322029,18 +322089,18 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:329903"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "Ahus, susceptibility to, 7" RELATED [OMIM:615008] -synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 7" RELATED [OMIM:615008] +synonym: "Ahus, susceptibility to, 7" RELATED [] +synonym: "hemolytic uremic syndrome, atypical, susceptibility to, 7" RELATED [] synonym: "Ig-mediated membranoproliferative glomerulonephritis" EXACT [Orphanet:329903] synonym: "Ig-mediated MPGN" EXACT [Orphanet:329903] synonym: "immune Complex mediated membranoproliferative glomerulonephritis" EXACT [NCIT:C123055] -synonym: "immunoglobulin-mediated membranoproliferative glomerulonephritis" EXACT CLINGEN_LABEL [] +synonym: "immunoglobulin-mediated membranoproliferative glomerulonephritis" EXACT CLINGEN_LABEL [Orphanet:329903] synonym: "Immunoglobulin-mediated MPGN" EXACT [Orphanet:329903] synonym: "membranoproliferative glomerulonephritis type I" EXACT [NCIT:C123055] synonym: "Mesangiocapillary glomerulonephritis type 1" EXACT [NCIT:C123055] -synonym: "nephrotic syndrome, type 7" RELATED [MONDO:Lexical, OMIM:615008] -synonym: "nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis" RELATED [OMIM:615008] -synonym: "NPHS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615008] +synonym: "nephrotic syndrome, type 7" RELATED [MONDO:Lexical] +synonym: "nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis" RELATED [] +synonym: "NPHS7" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17506 {source="MONDO:GARD"} xref: ICD10CM:N00.5 {source="Orphanet:329903/attributed", source="Orphanet:329903/ntbt", source="Orphanet:329903"} xref: MEDGEN:767244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -322070,18 +322130,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:329224"} subset: orphanet_rare {source="Orphanet:329224"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 17" EXACT [DOID:0070047] +synonym: "autosomal dominant intellectual disability 17" EXACT [] synonym: "autosomal dominant intellectual disability-17" RELATED [GARD:0013043] synonym: "autosomal dominant mental retardation 17" EXACT DEPRECATED [DOID:0070047] -synonym: "intellectual disability, autosomal dominant 17" RELATED [MONDO:Lexical, OMIM:615009] -synonym: "intellectual disability, autosomal dominant type 17" EXACT [MONDORULE:2, OMIM:615009] +synonym: "intellectual disability, autosomal dominant 17" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 17" EXACT [MONDORULE:2] synonym: "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/1443, PMID:23159249, PMID:25522177, PMID:26842493, PMID:28111752, PMID:28975623, PMID:30113927] -synonym: "mental retardation, autosomal dominant 17" RELATED DEPRECATED [MONDO:Lexical, OMIM:615009] -synonym: "mental retardation, autosomal dominant type 17" EXACT DEPRECATED [MONDORULE:2, OMIM:615009] -synonym: "MRD17" EXACT ABBREVIATION [DOID:0070047, MONDO:Lexical, OMIM:615009] +synonym: "mental retardation, autosomal dominant 17" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 17" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD17" EXACT ABBREVIATION [DOID:0070047, MONDO:Lexical] synonym: "PACS1-related syndrome" RELATED [GARD:0013043] -synonym: "Schuurs-Hoeijmakers syndrome" EXACT CLINGEN_LABEL [OMIM:615009] -synonym: "SHMS" EXACT ABBREVIATION [DOID:0070047] +synonym: "Schuurs-Hoeijmakers syndrome" EXACT CLINGEN_LABEL [DOID:0070047, NCIT:C150555, OMIM:615009, Orphanet:329224] +synonym: "SHMS" EXACT ABBREVIATION [DOID:0070047, OMIM:615009] xref: DOID:0070047 {source="MONDO:equivalentTo"} xref: GARD:13043 {source="MONDO:GARD"} xref: MEDGEN:767257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -322107,11 +322167,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADAR Aicardi-Goutieres syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Adar Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern] -synonym: "AGS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615010] +synonym: "AGS6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Aicardi-Goutieres syndrome 6" EXACT [MONDO:Lexical, OMIM:615010] synonym: "Aicardi-Goutieres syndrome caused by mutation in ADAR" EXACT [] synonym: "Aicardi-Goutieres syndrome caused by mutation in Adar" EXACT [MONDO:design_pattern] -synonym: "Aicardi-Goutieres syndrome type 6" EXACT [MONDORULE:1, OMIM:615010] +synonym: "Aicardi-Goutieres syndrome type 6" EXACT [MONDORULE:1] xref: GARD:15894 {source="MONDO:GARD"} xref: MEDGEN:761287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200898 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -322131,10 +322191,10 @@ id: MONDO:0014008 name: phosphohydroxylysinuria subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "PHLU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615011] -synonym: "PHOSPHOHYDROXYLYSINURIA" RELATED ABBREVIATION [OMIM:615011] +synonym: "PHLU" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PHOSPHOHYDROXYLYSINURIA" RELATED ABBREVIATION [] synonym: "Phosphohydroxylysinuria" EXACT [MONDO:Lexical, OMIM:615011] -synonym: "phosphohydroxylysinuria" EXACT CLINGEN_LABEL [OMIM:615011, OMIM:genemap2] +synonym: "phosphohydroxylysinuria" EXACT CLINGEN_LABEL [OMIM:615011] xref: MEDGEN:767258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615011 {source="MONDO:equivalentTo"} xref: UMLS:C3554344 {source="MEDGEN:767258", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -322151,8 +322211,8 @@ subset: gard_rare {source="GARD:15895", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARCI7" EXACT ABBREVIATION [DOID:0060716, MONDO:Lexical, OMIM:615022] -synonym: "autosomal recessive congenital ichthyosis type 7" EXACT [DOID:0060716, MONDORULE:1] -synonym: "ichthyosis, congenital, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:615022] +synonym: "autosomal recessive congenital ichthyosis type 7" EXACT [MONDORULE:1] +synonym: "ichthyosis, congenital, autosomal recessive 7" RELATED [MONDO:Lexical] xref: DOID:0060716 {source="MONDO:equivalentTo"} xref: GARD:15895 {source="MONDO:GARD"} xref: ICD10CM:Q80.2 {source="DOID:0060716"} @@ -322172,10 +322232,10 @@ subset: gard_rare {source="GARD:15896", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARCI9" EXACT ABBREVIATION [DOID:0060718, MONDO:Lexical, OMIM:615023] -synonym: "autosomal recessive congenital ichthyosis 9" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive congenital ichthyosis type 9" EXACT [DOID:0060718, MONDORULE:1] -synonym: "ichthyosis, congenital, autosomal recessive 9" RELATED [MONDO:Lexical, OMIM:615023] -synonym: "ichthyosis, congenital, autosomal recessive type 9" EXACT [MONDORULE:1, OMIM:615023] +synonym: "autosomal recessive congenital ichthyosis 9" EXACT CLINGEN_LABEL [DOID:0060718] +synonym: "autosomal recessive congenital ichthyosis type 9" EXACT [MONDORULE:1] +synonym: "ichthyosis, congenital, autosomal recessive 9" RELATED [MONDO:Lexical] +synonym: "ichthyosis, congenital, autosomal recessive type 9" EXACT [MONDORULE:1] xref: DOID:0060718 {source="MONDO:equivalentTo"} xref: GARD:15896 {source="MONDO:GARD"} xref: ICD10CM:Q80.2 {source="DOID:0060718"} @@ -322200,9 +322260,9 @@ subset: gard_rare {source="GARD:15897", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARCI10" EXACT ABBREVIATION [DOID:0060719, MONDO:Lexical, OMIM:615024] -synonym: "autosomal recessive congenital ichthyosis type 10" EXACT [DOID:0060719, MONDORULE:2] -synonym: "ichthyosis, congenital, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:615024] -synonym: "ichthyosis, congenital, autosomal recessive type 10" EXACT [MONDORULE:2, OMIM:615024] +synonym: "autosomal recessive congenital ichthyosis type 10" EXACT [MONDORULE:2] +synonym: "ichthyosis, congenital, autosomal recessive 10" RELATED [MONDO:Lexical] +synonym: "ichthyosis, congenital, autosomal recessive type 10" EXACT [MONDORULE:2] xref: DOID:0060719 {source="MONDO:equivalentTo"} xref: GARD:15897 {source="MONDO:GARD"} xref: ICD10CM:Q80.2 {source="DOID:0060719"} @@ -322230,13 +322290,13 @@ subset: orphanet_rare {source="Orphanet:329258"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170, Orphanet:329258] synonym: "Charcot-Marie-Tooth disease caused by mutation in DHTKD1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2Q" RELATED [GARD:0012446] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q" RELATED [OMIM:615025] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2Q" RELATED [MONDO:Lexical, OMIM:615025] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2Q" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy type 2Q" EXACT [DOID:0110170] -synonym: "Charcot-Marie-Tooth neuropathy, type 2Q" RELATED [OMIM:615025] +synonym: "Charcot-Marie-Tooth neuropathy, type 2Q" RELATED [] synonym: "CMT2Q" EXACT ABBREVIATION [DOID:0110170, MONDO:Lexical, OMIM:615025, Orphanet:329258] synonym: "DHTKD1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110170 {source="MONDO:equivalentTo"} @@ -322262,9 +322322,9 @@ subset: ordo_disorder {source="Orphanet:411712"} subset: orphanet_rare {source="Orphanet:411712"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "maternal riboflavin deficiency" EXACT CLINGEN_LABEL [] -synonym: "RBFVD" BROAD ABBREVIATION [MONDO:Lexical, OMIM:615026] -synonym: "riboflavin deficiency" BROAD [MONDO:Lexical, OMIM:615026] +synonym: "maternal riboflavin deficiency" EXACT CLINGEN_LABEL [Orphanet:411712] +synonym: "RBFVD" BROAD ABBREVIATION [MONDO:Lexical] +synonym: "riboflavin deficiency" BROAD [MONDO:Lexical] xref: GARD:17686 {source="MONDO:GARD"} xref: ICD10CM:P00.4 {source="Orphanet:411712", source="Orphanet:411712/attributed", source="Orphanet:411712/ntbt"} xref: MEDGEN:1657395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -322285,11 +322345,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:412189"} subset: orphanet_rare {source="Orphanet:412189"} subset: rare -synonym: "EBNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615028] -synonym: "EBS-AR exophilin 5" EXACT [Orphanet:412189] -synonym: "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" EXACT [OMIM:615028, OMIM:genemap2] +synonym: "EBNS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "EBS-AR exophilin 5" EXACT [] +synonym: "epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive" EXACT [OMIM:615028] synonym: "epidermolysis bullosa simplex due to exophilin 5 deficiency" EXACT CLINGEN_LABEL [Orphanet:412189] -synonym: "epidermolysis bullosa, nonspecific, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615028] +synonym: "epidermolysis bullosa, nonspecific, autosomal recessive" RELATED [MONDO:Lexical] xref: GARD:17691 {source="MONDO:GARD"} xref: ICD10CM:Q81.0 {source="Orphanet:412189/attributed", source="Orphanet:412189/ntbt", source="Orphanet:412189"} xref: MEDGEN:767281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -322314,11 +322374,11 @@ subset: orphanet_rare {source="Orphanet:320411"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 56" EXACT [DOID:0110808] -synonym: "autosomal recessive spastic paraplegia type 56" EXACT [DOID:0110808] +synonym: "autosomal recessive spastic paraplegia type 56" EXACT [DOID:0110808, Orphanet:320411] synonym: "CYP2U1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia caused by mutation in CYP2U1" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 56" EXACT [DOID:0110808, MONDORULE:2] -synonym: "spastic paraplegia 56, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615030] +synonym: "hereditary spastic paraplegia type 56" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 56, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG56" EXACT ABBREVIATION [DOID:0110808, MONDO:Lexical, OMIM:615030, Orphanet:320411] xref: DOID:0110808 {source="MONDO:equivalentTo"} xref: GARD:17480 {source="MONDO:GARD"} @@ -322343,13 +322403,13 @@ subset: orphanet_rare {source="Orphanet:320385"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 49" EXACT [DOID:0110801] -synonym: "autosomal recessive spastic paraplegia type 49" EXACT [DOID:0110801] -synonym: "hereditary spastic paraplegia 49" EXACT CLINGEN_LABEL [] +synonym: "autosomal recessive spastic paraplegia type 49" EXACT [DOID:0110801, Orphanet:320385] +synonym: "hereditary spastic paraplegia 49" EXACT CLINGEN_LABEL [DOID:0110801] synonym: "hereditary spastic paraplegia caused by mutation in TECPR2" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 49" EXACT [DOID:0110801, MONDORULE:2] -synonym: "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay" EXACT [OMIM:615031, OMIM:genemap2] -synonym: "spastic paraplegia 49, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615031] -synonym: "SPG49" EXACT ABBREVIATION [DOID:0110801, MONDO:Lexical, OMIM:615031, Orphanet:320385] +synonym: "hereditary spastic paraplegia type 49" EXACT [MONDORULE:2] +synonym: "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay" EXACT [OMIM:615031] +synonym: "spastic paraplegia 49, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "SPG49" EXACT ABBREVIATION [DOID:0110801, MONDO:Lexical, Orphanet:320385] synonym: "TECPR2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110801 {source="MONDO:equivalentTo"} xref: GARD:13568 {source="MONDO:GARD"} @@ -322374,11 +322434,11 @@ subset: ordo_disorder {source="Orphanet:642675"} subset: orphanet_rare {source="Orphanet:642675"} subset: predisposition subset: rare -synonym: "autism, susceptibility to, 18" EXACT DEPRECATED [MONDO:Lexical, OMIM:615032] -synonym: "autism, susceptibility to, type 18" EXACT DEPRECATED [MONDORULE:2, OMIM:615032] -synonym: "AUTS18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615032] +synonym: "autism, susceptibility to, 18" EXACT DEPRECATED [MONDO:Lexical] +synonym: "autism, susceptibility to, type 18" EXACT DEPRECATED [MONDORULE:2] +synonym: "AUTS18" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CHD8 overgrowth syndrome" EXACT [Orphanet:642675] -synonym: "susceptibility to autism 18" RELATED DEPRECATED [OMIM:615032] +synonym: "susceptibility to autism 18" RELATED DEPRECATED [] xref: MEDGEN:767287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615032 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:615032"} @@ -322403,10 +322463,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 54" EXACT [DOID:0110806] -synonym: "autosomal recessive spastic paraplegia type 54" EXACT [DOID:0110806] +synonym: "autosomal recessive spastic paraplegia type 54" EXACT [DOID:0110806, Orphanet:320380] synonym: "DDHD2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia type 54" EXACT [DOID:0110806, MONDORULE:2] -synonym: "spastic paraplegia 54, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615033] +synonym: "hereditary spastic paraplegia type 54" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 54, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG54" EXACT ABBREVIATION [DOID:0110806, MONDO:Lexical, OMIM:615033, Orphanet:320380] xref: DOID:0110806 {source="MONDO:equivalentTo"} xref: GARD:17475 {source="MONDO:GARD"} @@ -322432,9 +322492,9 @@ subset: ordo_disorder {source="Orphanet:420485"} subset: orphanet_rare {source="Orphanet:420485"} subset: rare synonym: "ANO3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cranio-cervical dystonia with laryngeal and upper-limb involvement" RELATED [Orphanet:420485] -synonym: "dystonia 24" EXACT [MONDO:Lexical, OMIM:615034, Orphanet:420485] -synonym: "dystonia type 24" EXACT [DOID:0090052, MONDORULE:2, OMIM:615034] +synonym: "cranio-cervical dystonia with laryngeal and upper-limb involvement" RELATED [] +synonym: "dystonia 24" EXACT [DOID:0090052, MONDO:Lexical, OMIM:615034, Orphanet:420485] +synonym: "dystonia type 24" EXACT [MONDORULE:2] synonym: "dystonic disorder caused by mutation in ANO3" EXACT [MONDO:design_pattern] synonym: "DYT-ANO3" EXACT [https://orcid.org/0000-0002-6601-2165, https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "DYT24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615034, Orphanet:420485] @@ -322461,9 +322521,9 @@ subset: orphanet_rare {source="Orphanet:320375"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 55" EXACT [DOID:0110807] -synonym: "autosomal recessive spastic paraplegia type 55" EXACT [DOID:0110807] -synonym: "hereditary spastic paraplegia type 55" EXACT [DOID:0110807, MONDORULE:2] -synonym: "spastic paraplegia 55, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615035] +synonym: "autosomal recessive spastic paraplegia type 55" EXACT [DOID:0110807, Orphanet:320375] +synonym: "hereditary spastic paraplegia type 55" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 55, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG55" EXACT ABBREVIATION [DOID:0110807, MONDO:Lexical, OMIM:615035, Orphanet:320375] xref: DOID:0110807 {source="MONDO:equivalentTo"} xref: GARD:17474 {source="MONDO:GARD"} @@ -322490,9 +322550,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:391389"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "episodic pain syndrome, familial, 1" RELATED [MONDO:Lexical, OMIM:615040] -synonym: "episodic pain syndrome, familial, type 1" EXACT [MONDORULE:1, OMIM:615040] -synonym: "FEPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615040] +synonym: "episodic pain syndrome, familial, 1" RELATED [MONDO:Lexical] +synonym: "episodic pain syndrome, familial, type 1" EXACT [MONDORULE:1] +synonym: "FEPS1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111729 {source="MONDO:equivalentTo"} xref: GARD:17618 {source="MONDO:GARD"} xref: ICD10CM:M79.6 {source="Orphanet:391389", source="Orphanet:391389/attributed", source="Orphanet:391389/ntbt"} @@ -322512,12 +322572,12 @@ subset: gard_rare {source="GARD:15898", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDDGA10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615041] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10" RELATED [OMIM:615041] +synonym: "MDDGA10" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" EXACT [MONDO:Lexical, OMIM:615041] synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1" EXACT [MONDO:design_pattern] synonym: "RXYLT1 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related" RELATED [OMIM:615041] +synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related" RELATED [] xref: DOID:0111239 {source="MONDO:equivalentTo"} xref: GARD:15898 {source="MONDO:GARD"} xref: MEDGEN:767295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -322541,15 +322601,15 @@ subset: orphanet_rare {source="Orphanet:329178"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carbohydrate deficient glycoprotein syndrome type Iu" EXACT [Orphanet:329178] -synonym: "CDG Iu" RELATED [OMIM:615042] +synonym: "CDG Iu" RELATED [] synonym: "CDG syndrome type Iu" EXACT [Orphanet:329178] synonym: "CDG-Iu" EXACT [Orphanet:329178] synonym: "CDG1U" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615042, Orphanet:329178] synonym: "CMD with intellectual disability and severe epilepsy" EXACT [Orphanet:329178] synonym: "congenital disorder of glycosylation type 1u" EXACT [Orphanet:329178] synonym: "congenital disorder of glycosylation type Iu" EXACT [Orphanet:329178] -synonym: "congenital disorder of glycosylation, type Iu" RELATED [MONDO:Lexical, OMIM:615042] -synonym: "DPM2-CDG" EXACT [Orphanet:329178] +synonym: "congenital disorder of glycosylation, type Iu" RELATED [MONDO:Lexical] +synonym: "DPM2-CDG" EXACT ABBREVIATION [Orphanet:329178] xref: DOID:0080571 {source="MONDO:equivalentTo"} xref: GARD:12416 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:329178/attributed", source="Orphanet:329178/ntbt", source="Orphanet:329178"} @@ -322577,10 +322637,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive complex spastic paraplegia caused by mutation in C19orf12" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 43" EXACT [DOID:0110795] -synonym: "autosomal recessive spastic paraplegia type 43" EXACT [DOID:0110795] +synonym: "autosomal recessive spastic paraplegia type 43" EXACT [DOID:0110795, Orphanet:320370] synonym: "C19orf12 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia type 43" EXACT [DOID:0110795, MONDORULE:2] -synonym: "spastic paraplegia 43, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615043] +synonym: "hereditary spastic paraplegia type 43" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 43, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG43" EXACT ABBREVIATION [DOID:0110795, MONDO:Lexical, OMIM:615043, Orphanet:320370] xref: DOID:0110795 {source="MONDO:equivalentTo"} xref: GARD:17473 {source="MONDO:GARD"} @@ -322604,8 +322664,8 @@ subset: ordo_disorder {source="Orphanet:276435"} subset: orphanet_rare {source="Orphanet:276435"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SMAJ" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615048] -synonym: "spinal muscular atrophy, Jokela type" RELATED [MONDO:Lexical, OMIM:615048] +synonym: "SMAJ" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spinal muscular atrophy, Jokela type" RELATED [MONDO:Lexical] xref: DOID:0081356 {source="MONDO:equivalentTo"} xref: GARD:17282 {source="MONDO:GARD"} xref: ICD10CM:G12.1 {source="Orphanet:276435", source="Orphanet:276435/attributed", source="Orphanet:276435/ntbt"} @@ -322627,11 +322687,11 @@ subset: gard_rare {source="GARD:15899", source="MONDO:GARD"} subset: rare synonym: "congenital stationary night blindness 1F autosomal recessive" EXACT [DOID:0110864] synonym: "congenital stationary night blindness caused by mutation in LRIT3" EXACT [MONDO:design_pattern] -synonym: "congenital stationary night blindness type 1F" EXACT [DOID:0110864, MONDORULE:4] +synonym: "congenital stationary night blindness type 1F" EXACT [MONDORULE:4] synonym: "CSNB1F" EXACT ABBREVIATION [DOID:0110864, MONDO:Lexical, OMIM:615058] synonym: "LRIT3 congenital stationary night blindness" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "night blindness, congenital stationary (complete), 1F, autosomal recessive" EXACT [OMIM:615058, OMIM:genemap2] -synonym: "night blindness, congenital stationary, type 1F" RELATED [MONDO:Lexical, OMIM:615058] +synonym: "night blindness, congenital stationary (complete), 1F, autosomal recessive" EXACT [] +synonym: "night blindness, congenital stationary, type 1F" RELATED [MONDO:Lexical] xref: DOID:0110864 {source="MONDO:equivalentTo"} xref: GARD:15899 {source="MONDO:GARD"} xref: MEDGEN:767313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -322653,11 +322713,11 @@ def: "Any hypotrichosis in which the cause of the disease is a mutation in the S subset: gard_rare {source="GARD:15900", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hypotrichosis 11" EXACT [MONDO:Lexical, OMIM:615059] +synonym: "hypotrichosis 11" EXACT [DOID:0110708, MONDO:Lexical, OMIM:615059] synonym: "hypotrichosis caused by mutation in SNRPE" EXACT [MONDO:design_pattern] -synonym: "hypotrichosis type 11" EXACT [DOID:0110708, MONDORULE:2, OMIM:615059] -synonym: "HYPT11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615059] -synonym: "hypt11" EXACT [DOID:0110708] +synonym: "hypotrichosis type 11" EXACT [MONDORULE:2] +synonym: "HYPT11" EXACT ABBREVIATION [DOID:0110708, OMIM:615059] +synonym: "hypt11" EXACT [] synonym: "SNRPE hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110708 {source="MONDO:equivalentTo"} xref: GARD:15900 {source="MONDO:GARD"} @@ -322681,11 +322741,11 @@ subset: ordo_disorder {source="Orphanet:329457"} subset: orphanet_rare {source="Orphanet:329457"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis, distal, type 5D" RELATED [MONDO:Lexical, OMIM:615065] -synonym: "DA5D" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615065, Orphanet:329457] +synonym: "arthrogryposis, distal, type 5D" RELATED [MONDO:Lexical] +synonym: "DA5D" EXACT ABBREVIATION [DOID:0111594, MONDO:Lexical, OMIM:615065, Orphanet:329457] synonym: "distal arthrogryposis caused by mutation in ECEL1" EXACT [MONDO:design_pattern] -synonym: "distal arthrogryposis type 5 without ophthalmoparesis" EXACT [Orphanet:329457] -synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT [Orphanet:329457] +synonym: "distal arthrogryposis type 5 without ophthalmoparesis" EXACT [DOID:0111594, Orphanet:329457] +synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT [DOID:0111594, Orphanet:329457] synonym: "ECEL1 distal arthrogryposis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111594 {source="MONDO:equivalentTo"} xref: GARD:13059 {source="MONDO:GARD"} @@ -322707,12 +322767,12 @@ def: "Any osteogenesis imperfecta in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15901", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "OI, type 14" RELATED [OMIM:615066] +synonym: "OI, type 14" RELATED [] synonym: "OI14" EXACT ABBREVIATION [DOID:0110343, MONDO:Lexical, OMIM:615066] synonym: "osteogenesis imperfecta caused by mutation in TMEM38B" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XIV" EXACT [DOID:0110343] -synonym: "osteogenesis imperfecta, type 14" RELATED [OMIM:615066] -synonym: "osteogenesis imperfecta, type XIV" RELATED [MONDO:Lexical, OMIM:615066] +synonym: "osteogenesis imperfecta, type 14" RELATED [] +synonym: "osteogenesis imperfecta, type XIV" RELATED [MONDO:Lexical] synonym: "TMEM38B osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110343 {source="MONDO:equivalentTo"} xref: GARD:15901 {source="MONDO:GARD"} @@ -322739,12 +322799,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CCDC114 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD20" EXACT ABBREVIATION [DOID:0110625, MONDO:Lexical, OMIM:615067] -synonym: "ciliary dyskinesia, primary, 20" RELATED [MONDO:Lexical, OMIM:615067] -synonym: "ciliary dyskinesia, primary, 20, with or without situs inversus" RELATED [OMIM:615067] -synonym: "ciliary dyskinesia, primary, type 20" EXACT [MONDORULE:2, OMIM:615067] +synonym: "ciliary dyskinesia, primary, 20" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 20, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 20" EXACT [MONDORULE:2] synonym: "primary ciliary dyskinesia 20 with or without situs inversus" EXACT [DOID:0110625] synonym: "primary ciliary dyskinesia caused by mutation in CCDC114" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 20" EXACT [DOID:0110625, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 20" EXACT [MONDORULE:2] xref: DOID:0110625 {source="MONDO:equivalentTo"} xref: GARD:15902 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110625"} @@ -322770,8 +322830,8 @@ subset: orphanet_rare {source="Orphanet:319671"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Alazami syndrome" EXACT [MONDO:Lexical, OMIM:615071, Orphanet:319671] -synonym: "ALAZS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615071] -synonym: "facial dysmorphism, intellectual disability, and primordial dwarfism" RELATED [OMIM:615071] +synonym: "ALAZS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "facial dysmorphism, intellectual disability, and primordial dwarfism" RELATED [] xref: GARD:17468 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:319671", source="Orphanet:319671/attributed", source="Orphanet:319671/ntbt"} xref: MEDGEN:767353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -322795,7 +322855,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BDA1C" EXACT ABBREVIATION [DOID:0110977, MONDO:Lexical, OMIM:615072] synonym: "brachydactyly type A1 caused by mutation in GDF5" EXACT [MONDO:design_pattern] -synonym: "brachydactyly, type A1, C" RELATED [MONDO:Lexical, OMIM:615072] +synonym: "brachydactyly, type A1, C" RELATED [MONDO:Lexical] synonym: "GDF5 brachydactyly type A1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110977 {source="MONDO:equivalentTo"} xref: GARD:15903 {source="MONDO:GARD"} @@ -322817,11 +322877,11 @@ subset: ordo_disorder {source="Orphanet:329466"} subset: orphanet_rare {source="Orphanet:329466"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant focal dystonia, DYT25 type" RELATED [Orphanet:329466] -synonym: "dystonia 25" EXACT [MONDO:Lexical, OMIM:615073] -synonym: "dystonia type 25" EXACT [DOID:0090055, MONDORULE:2, OMIM:615073] +synonym: "autosomal dominant focal dystonia, DYT25 type" RELATED [] +synonym: "dystonia 25" EXACT [DOID:0090055, MONDO:Lexical, OMIM:615073, Orphanet:329466] +synonym: "dystonia type 25" EXACT [MONDORULE:2] synonym: "dystonic disorder caused by mutation in GNAL" EXACT [MONDO:design_pattern] -synonym: "DYT25" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615073] +synonym: "DYT25" RELATED ABBREVIATION [MONDO:Lexical] synonym: "GNAL dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090055 {source="MONDO:equivalentTo"} xref: GARD:10667 {source="MONDO:GARD"} @@ -322848,17 +322908,17 @@ subset: ordo_disorder {source="Orphanet:363686"} subset: orphanet_rare {source="Orphanet:363686"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 18" EXACT [DOID:0070048] +synonym: "autosomal dominant intellectual disability 18" EXACT [] synonym: "autosomal dominant mental retardation 18" EXACT DEPRECATED [DOID:0070048] -synonym: "autosomal dominant non-syndromic intellectual disability 18" RELATED [DOID:0070048] -synonym: "GAND syndrome" EXACT [OMIM:615074, OMIM:genemap2] +synonym: "autosomal dominant non-syndromic intellectual disability 18" RELATED [] +synonym: "GAND syndrome" EXACT [DOID:0070048, OMIM:615074] synonym: "GATAD2B-associated neurodevelopmental disorder" RELATED [GARD:0012815] -synonym: "intellectual disability, autosomal dominant 18" RELATED [MONDO:Lexical, OMIM:615074] -synonym: "intellectual disability, autosomal dominant type 18" EXACT [MONDORULE:2, OMIM:615074] -synonym: "mental retardation, autosomal dominant 18" RELATED DEPRECATED [MONDO:Lexical, OMIM:615074] -synonym: "mental retardation, autosomal dominant type 18" EXACT DEPRECATED [MONDORULE:2, OMIM:615074] -synonym: "MRD18" EXACT ABBREVIATION [DOID:0070048, MONDO:Lexical, OMIM:615074] -synonym: "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" EXACT CLINGEN_LABEL [] +synonym: "intellectual disability, autosomal dominant 18" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 18" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 18" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 18" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD18" EXACT ABBREVIATION [DOID:0070048, MONDO:Lexical] +synonym: "severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" EXACT CLINGEN_LABEL [Orphanet:363686] xref: DOID:0070048 {source="MONDO:equivalentTo"} xref: GARD:12815 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:363686", source="Orphanet:363686/attributed", source="Orphanet:363686/ntbt"} @@ -322888,17 +322948,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:404473"} subset: orphanet_rare {source="Orphanet:404473"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 19" EXACT [DOID:0070049] +synonym: "autosomal dominant intellectual disability 19" EXACT [] synonym: "autosomal dominant mental retardation 19" EXACT DEPRECATED [DOID:0070049] -synonym: "autosomal dominant non-syndromic intellectual disability 19" RELATED [DOID:0070049] +synonym: "autosomal dominant non-syndromic intellectual disability 19" RELATED [] synonym: "CTNNB1-related intellectual disability" RELATED [GARD:0003505] -synonym: "intellectual disability, autosomal dominant 19" RELATED [GARD:0003505, MONDO:Lexical, OMIM:615075] -synonym: "intellectual disability, autosomal dominant type 19" EXACT [MONDORULE:2, OMIM:615075] -synonym: "mental retardation, autosomal dominant 19" RELATED DEPRECATED [MONDO:Lexical, OMIM:615075] -synonym: "mental retardation, autosomal dominant type 19" EXACT DEPRECATED [MONDORULE:2, OMIM:615075] -synonym: "MRD19" EXACT ABBREVIATION [DOID:0070049, MONDO:Lexical, OMIM:615075] -synonym: "neurodevelopmental disorder with spastic diplegia and visual defects" EXACT [OMIM:615075, OMIM:genemap2] -synonym: "severe intellectual disability-progressive spastic diplegia syndrome" EXACT CLINGEN_LABEL [] +synonym: "intellectual disability, autosomal dominant 19" RELATED [GARD:0003505, MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 19" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 19" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 19" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD19" EXACT ABBREVIATION [DOID:0070049, MONDO:Lexical] +synonym: "neurodevelopmental disorder with spastic diplegia and visual defects" EXACT [OMIM:615075] +synonym: "severe intellectual disability-progressive spastic diplegia syndrome" EXACT CLINGEN_LABEL [Orphanet:404473] xref: DOID:0070049 {source="MONDO:equivalentTo"} xref: GARD:3505 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:404473/attributed", source="Orphanet:404473/ntbt", source="Orphanet:404473"} @@ -322925,9 +322985,9 @@ def: "An Alzheimer's disease that is characterized by an associated with mutatio synonym: "AD17" EXACT ABBREVIATION [DOID:0110049, MONDO:Lexical, OMIM:615080] synonym: "Alzheimer disease 17" EXACT [DOID:0110049, MONDO:Lexical, OMIM:615080] synonym: "Alzheimer disease 17, late onset" EXACT [DOID:0110049] -synonym: "Alzheimer disease 17, late-onset" RELATED [OMIM:615080] -synonym: "Alzheimer's disease 17" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 17" EXACT [DOID:0110049, MONDORULE:2] +synonym: "Alzheimer disease 17, late-onset" RELATED [] +synonym: "Alzheimer's disease 17" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110049, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 17" EXACT [MONDORULE:2] xref: DOID:0110049 {source="MONDO:equivalentTo"} xref: MEDGEN:767366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615080 {source="DOID:0110049", source="MONDO:equivalentTo"} @@ -322944,9 +323004,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "azoospermia caused by mutation in KLHL10" EXACT [MONDO:design_pattern] synonym: "KLHL10 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spermatogenic failure 11" EXACT [MONDO:Lexical, OMIM:615081] -synonym: "spermatogenic failure type 11" EXACT [MONDORULE:2, OMIM:615081] -synonym: "SPGF11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615081] +synonym: "spermatogenic failure 11" EXACT [DOID:0070180, MONDO:Lexical, OMIM:615081] +synonym: "spermatogenic failure type 11" EXACT [MONDORULE:2] +synonym: "SPGF11" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070180 {source="MONDO:equivalentTo"} xref: GARD:15904 {source="MONDO:GARD"} xref: MEDGEN:767367 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -322968,11 +323028,11 @@ subset: predisposition subset: rare synonym: "colorectal cancer caused by mutation in POLE" EXACT [MONDO:design_pattern] synonym: "colorectal cancer, susceptibility to, 12" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615083] -synonym: "colorectal cancer, susceptibility to, on chromosome 12Q24" RELATED [OMIM:615083] -synonym: "colorectal cancer, susceptibility to, type 12" EXACT [MONDORULE:2, OMIM:615083] -synonym: "CRCS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615083] +synonym: "colorectal cancer, susceptibility to, on chromosome 12Q24" RELATED [] +synonym: "colorectal cancer, susceptibility to, type 12" EXACT [MONDORULE:2] +synonym: "CRCS12" RELATED ABBREVIATION [MONDO:Lexical] synonym: "POLE colorectal cancer" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to colorectal cancer 12" RELATED [OMIM:615083] +synonym: "susceptibility to colorectal cancer 12" RELATED [] xref: MEDGEN:767374 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615083 {source="MONDO:equivalentTo"} xref: UMLS:C3554460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:767374"} @@ -322992,14 +323052,14 @@ subset: orphanet_rare {source="Orphanet:352447"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MGME1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mitochondrial DNA depletion syndrome 11" EXACT [MONDO:Lexical, OMIM:615084] +synonym: "mitochondrial DNA depletion syndrome 11" EXACT [DOID:0080129, MONDO:Lexical, OMIM:615084] synonym: "mitochondrial DNA depletion syndrome caused by mutation in MGME1" EXACT [MONDO:design_pattern] -synonym: "mitochondrial DNA depletion syndrome type 11" EXACT [DOID:0080129, MONDORULE:2, OMIM:615084] +synonym: "mitochondrial DNA depletion syndrome type 11" EXACT [MONDORULE:2] synonym: "mitochondrial DNA maintenance syndrome due to MGME1 deficiency" EXACT [Orphanet:352447] synonym: "mtDNA maintenance syndrome due to MGME1 deficiency" EXACT [Orphanet:352447] -synonym: "MTDPS11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615084] +synonym: "MTDPS11" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PEO-myopathy-emaciation syndrome" EXACT [Orphanet:352447] -synonym: "progressive external ophthalmoplegia-myopathy-emaciation syndrome" RELATED [Orphanet:352447] +synonym: "progressive external ophthalmoplegia-myopathy-emaciation syndrome" RELATED [] xref: DOID:0080129 {source="MONDO:equivalentTo"} xref: GARD:17517 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:352447", source="Orphanet:352447/attributed", source="Orphanet:352447/ntbt"} @@ -323021,10 +323081,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive malignant osteopetrosis caused by mutation in SNX10" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis caused by mutation in SNX10" EXACT [] -synonym: "autosomal recessive osteopetrosis type 8" EXACT [DOID:0110940, MONDORULE:1] -synonym: "OPTB8" EXACT ABBREVIATION [DOID:0110940, MONDO:Lexical, OMIM:615085] -synonym: "osteopetrosis, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:615085] -synonym: "osteopetrosis, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:615085] +synonym: "autosomal recessive osteopetrosis type 8" EXACT [MONDORULE:1] +synonym: "OPTB8" EXACT ABBREVIATION [DOID:0110940, MONDO:Lexical, NCIT:C150556, OMIM:615085] +synonym: "osteopetrosis, autosomal recessive 8" RELATED [MONDO:Lexical] +synonym: "osteopetrosis, autosomal recessive type 8" EXACT [MONDORULE:1] synonym: "SNX10 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] synonym: "SNX10 autosomal recessive osteopetrosis" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0110940 {source="MONDO:equivalentTo"} @@ -323048,9 +323108,9 @@ name: autism, susceptibility to, 19 comment: Not listed in the OMIM series but the page directs you to 209850 for the full details. {source="OMIM:615091"} subset: predisposition synonym: "autism, susceptibility to, 19" EXACT [MONDO:Lexical, OMIM:615091] -synonym: "autism, susceptibility to, type 19" EXACT [MONDORULE:2, OMIM:615091] -synonym: "AUTS19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615091] -synonym: "susceptibility to autism 19" RELATED [OMIM:615091] +synonym: "autism, susceptibility to, type 19" EXACT [MONDORULE:2] +synonym: "AUTS19" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to autism 19" RELATED [] xref: MEDGEN:767409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615091 {source="MONDO:equivalentTo"} xref: Orphanet:106 {source="OMIM:615091"} @@ -323068,10 +323128,10 @@ def: "Any left ventricular noncompaction in which the cause of the disease is a subset: gard_rare {source="GARD:15906", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "left ventricular noncompaction 7" EXACT [MONDO:Lexical, OMIM:615092] +synonym: "left ventricular noncompaction 7" EXACT [MONDO:Lexical, NCIT:C157266, OMIM:615092] synonym: "left ventricular noncompaction caused by mutation in MIB1" EXACT [MONDO:design_pattern] -synonym: "left ventricular noncompaction type 7" EXACT [MONDORULE:1, OMIM:615092] -synonym: "LVNC7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615092] +synonym: "left ventricular noncompaction type 7" EXACT [MONDORULE:1] +synonym: "LVNC7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MIB1 left ventricular noncompaction" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15906 {source="MONDO:GARD"} xref: MEDGEN:767410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323095,10 +323155,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:329228"} subset: orphanet_rare {source="Orphanet:329228"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MCPH10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615095] +synonym: "MCPH10" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephalic primordial dwarfism, Walsh type" EXACT [Orphanet:329228] -synonym: "microcephaly 10, primary, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615095] -synonym: "primary autosomal recessive microcephaly 10" RELATED [DOID:0070294] +synonym: "microcephaly 10, primary, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "primary autosomal recessive microcephaly 10" RELATED [] xref: DOID:0070294 {source="MONDO:equivalentTo"} xref: GARD:17498 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:329228", source="Orphanet:329228/attributed", source="Orphanet:329228/ntbt"} @@ -323124,7 +323184,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:289553"} subset: orphanet_rare {source="Orphanet:289553"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "TYSHCHENKO syndrome" RELATED [OMIM:615102] +synonym: "TYSHCHENKO syndrome" RELATED [] xref: GARD:17328 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:289553/attributed", source="Orphanet:289553/ntbt", source="Orphanet:289553"} xref: MEDGEN:767688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323142,9 +323202,9 @@ def: "Any Cowden disease in which the cause of the disease is a mutation in the subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Cowden disease caused by mutation in SDHD" EXACT [MONDO:design_pattern] -synonym: "Cowden syndrome 3" EXACT [MONDO:Lexical, OMIM:615106] -synonym: "Cowden syndrome type 3" EXACT [MONDORULE:1, OMIM:615106] -synonym: "CWS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615106] +synonym: "Cowden syndrome 3" EXACT [MONDO:Lexical] +synonym: "Cowden syndrome type 3" EXACT [MONDORULE:1] +synonym: "CWS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SDHD Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:615106 {source="MONDO:equivalentObsolete"} xref: Orphanet:201 {source="OMIM:615106"} @@ -323160,9 +323220,9 @@ def: "Any Cowden disease in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:16463", source="MONDO:GARD"} subset: rare synonym: "Cowden disease caused by mutation in KLLN" EXACT [MONDO:design_pattern] -synonym: "Cowden syndrome 4" EXACT [MONDO:Lexical, OMIM:615107] -synonym: "Cowden syndrome type 4" EXACT [MONDORULE:1, OMIM:615107] -synonym: "CWS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615107] +synonym: "Cowden syndrome 4" EXACT [DOID:0081000, MONDO:Lexical, OMIM:615107] +synonym: "Cowden syndrome type 4" EXACT [MONDORULE:1] +synonym: "CWS4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "KLLN Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081000 {source="MONDO:equivalentTo"} xref: GARD:16463 {source="MONDO:GARD"} @@ -323182,9 +323242,9 @@ def: "Any Cowden disease in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:16464", source="MONDO:GARD"} subset: rare synonym: "Cowden disease caused by mutation in PIK3CA" EXACT [MONDO:design_pattern] -synonym: "Cowden syndrome 5" EXACT [MONDO:Lexical, OMIM:615108] -synonym: "Cowden syndrome type 5" EXACT [MONDORULE:1, OMIM:615108] -synonym: "CWS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615108] +synonym: "Cowden syndrome 5" EXACT [DOID:0081001, MONDO:Lexical, OMIM:615108] +synonym: "Cowden syndrome type 5" EXACT [MONDORULE:1] +synonym: "CWS5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PIK3CA Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081001 {source="MONDO:equivalentTo"} xref: GARD:16464 {source="MONDO:GARD"} @@ -323207,9 +323267,9 @@ subset: gard_rare {source="GARD:16465", source="MONDO:GARD"} subset: rare synonym: "AKT1 Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Cowden disease caused by mutation in AKT1" EXACT [MONDO:design_pattern] -synonym: "Cowden syndrome 6" EXACT [MONDO:Lexical, OMIM:615109] -synonym: "Cowden syndrome type 6" EXACT [MONDORULE:1, OMIM:615109] -synonym: "CWS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615109] +synonym: "Cowden syndrome 6" EXACT [DOID:0081002, MONDO:Lexical, OMIM:615109] +synonym: "Cowden syndrome type 6" EXACT [MONDORULE:1] +synonym: "CWS6" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081002 {source="MONDO:equivalentTo"} xref: GARD:16465 {source="MONDO:GARD"} xref: MEDGEN:767433 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323230,9 +323290,9 @@ subset: gard_rare {source="GARD:15907", source="MONDO:GARD"} subset: rare synonym: "LRIG2 Ochoa syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Ochoa syndrome caused by mutation in LRIG2" EXACT [MONDO:design_pattern] -synonym: "UFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615112] +synonym: "UFS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "urofacial syndrome 2" EXACT [MONDO:Lexical, OMIM:615112] -synonym: "urofacial syndrome type 2" EXACT [MONDORULE:1, OMIM:615112] +synonym: "urofacial syndrome type 2" EXACT [MONDORULE:1] xref: GARD:15907 {source="MONDO:GARD"} xref: MEDGEN:767434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615112 {source="MONDO:equivalentTo"} @@ -323251,12 +323311,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ALDH1A3 isolated microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "isolated microphthalmia 8" EXACT CLINGEN_LABEL [] +synonym: "isolated microphthalmia 8" EXACT CLINGEN_LABEL [DOID:0060841] synonym: "isolated microphthalmia caused by mutation in ALDH1A3" EXACT [MONDO:design_pattern] -synonym: "isolated microphthalmia type 8" EXACT [DOID:0060841, MONDORULE:1] +synonym: "isolated microphthalmia type 8" EXACT [MONDORULE:1] synonym: "MCOP8" EXACT ABBREVIATION [DOID:0060841, MONDO:Lexical, OMIM:615113] -synonym: "microphthalmia, isolated 8" RELATED [MONDO:Lexical, OMIM:615113] -synonym: "microphthalmia, isolated type 8" EXACT [MONDORULE:1, OMIM:615113] +synonym: "microphthalmia, isolated 8" RELATED [MONDO:Lexical] +synonym: "microphthalmia, isolated type 8" EXACT [MONDORULE:1] xref: DOID:0060841 {source="MONDO:equivalentTo"} xref: ICD10CM:Q11.0 {source="DOID:0060841"} xref: MEDGEN:767438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323277,11 +323337,11 @@ subset: gard_rare {source="GARD:18571", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615119] -synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2" EXACT [MONDORULE:1, OMIM:615119] -synonym: "CEMCOX2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615119] +synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2" EXACT [MONDORULE:1] +synonym: "CEMCOX2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "COX15 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COX15" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex IV deficiency, nuclear type 6" EXACT [OMIM:615119, OMIM:genemap2] +synonym: "mitochondrial complex IV deficiency, nuclear type 6" EXACT [] xref: DOID:0080358 {source="MONDO:equivalentTo"} xref: GARD:18571 {source="MONDO:GARD"} xref: MEDGEN:767448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323304,16 +323364,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AGRN congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CMS8" EXACT ABBREVIATION [DOID:0110657, MONDO:Lexical, OMIM:615120] -synonym: "congenital myasthenic syndrome 8" EXACT CLINGEN_LABEL [] +synonym: "congenital myasthenic syndrome 8" EXACT CLINGEN_LABEL [DOID:0110657] synonym: "congenital myasthenic syndrome 8 with pre- and postsynaptic defects" EXACT [DOID:0110657] synonym: "congenital myasthenic syndrome caused by mutation in AGRN" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome due to agrin deficiency" EXACT [DOID:0110657] -synonym: "congenital myasthenic syndrome type 8" EXACT [DOID:0110657, MONDORULE:1] -synonym: "myasthenic syndrome, congenital, 8" RELATED [MONDO:Lexical, OMIM:615120] -synonym: "myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects" EXACT [OMIM:615120, OMIM:genemap2] -synonym: "myasthenic syndrome, congenital, due to agrin deficiency" RELATED [OMIM:615120] -synonym: "myasthenic syndrome, congenital, type 8" EXACT [MONDORULE:1, OMIM:615120] -synonym: "myasthenic syndrome, congenital, with Pre- and postsynaptic defects" RELATED [OMIM:615120] +synonym: "congenital myasthenic syndrome type 8" EXACT [MONDORULE:1] +synonym: "myasthenic syndrome, congenital, 8" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects" EXACT [] +synonym: "myasthenic syndrome, congenital, due to agrin deficiency" RELATED [] +synonym: "myasthenic syndrome, congenital, type 8" EXACT [MONDORULE:1] +synonym: "myasthenic syndrome, congenital, with Pre- and postsynaptic defects" RELATED [] xref: DOID:0110657 {source="MONDO:equivalentTo"} xref: GARD:15908 {source="MONDO:GARD"} xref: MEDGEN:815069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323332,8 +323392,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014053 name: obsolete stomatin-like protein-2, hyperphosphorylation of comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "hyperphosphorylated Paratarg-7" RELATED [OMIM:615121] -synonym: "stomatin-like protein-2, hyperphosphorylation of" EXACT [OMIM:615121] +synonym: "hyperphosphorylated Paratarg-7" RELATED [] +synonym: "stomatin-like protein-2, hyperphosphorylation of" EXACT [] xref: OMIM:615121 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -323345,12 +323405,12 @@ name: lymphoproliferative syndrome 2 def: "Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CD27 deficiency" RELATED EXCLUDE [DOID:0060708] +synonym: "CD27 deficiency" RELATED EXCLUDE [] synonym: "CD27 lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LPFS2" EXACT ABBREVIATION [DOID:0060708, MONDO:Lexical, OMIM:615122] -synonym: "lymphoproliferative syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615122] +synonym: "lymphoproliferative syndrome 2" EXACT CLINGEN_LABEL [DOID:0060708, MONDO:Lexical, OMIM:615122] synonym: "lymphoproliferative syndrome caused by mutation in CD27" EXACT [MONDO:design_pattern] -synonym: "lymphoproliferative syndrome type 2" EXACT [DOID:0060708, MONDORULE:1, OMIM:615122] +synonym: "lymphoproliferative syndrome type 2" EXACT [MONDORULE:1] xref: DOID:0060708 {source="MONDO:equivalentTo"} xref: ICD10CM:D47.9 {source="DOID:0060708"} xref: MEDGEN:767454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323369,10 +323429,10 @@ name: epilepsy, familial adult myoclonic, 4 subset: gard_rare {source="GARD:18085", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cortical myoclonic tremor with epilepsy, familial, 4" RELATED [OMIM:615127] -synonym: "epilepsy, familial ADULT myoclonic, 4" RELATED [MONDO:Lexical, OMIM:615127] -synonym: "epilepsy, myoclonic, familial adult, 4" EXACT [OMIM:615127, OMIM:genemap2] -synonym: "FAME4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615127] +synonym: "cortical myoclonic tremor with epilepsy, familial, 4" RELATED [] +synonym: "epilepsy, familial ADULT myoclonic, 4" RELATED [MONDO:Lexical] +synonym: "epilepsy, myoclonic, familial adult, 4" EXACT [] +synonym: "FAME4" EXACT ABBREVIATION [DOID:0111693, MONDO:Lexical, OMIM:615127] xref: DOID:0111693 {source="MONDO:equivalentTo"} xref: GARD:18085 {source="MONDO:GARD"} xref: MEDGEN:767474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323389,11 +323449,11 @@ name: melanoma, cutaneous malignant, susceptibility to, 9 subset: inferred_rare subset: predisposition subset: rare -synonym: "CMM9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615134] -synonym: "melanoma, cutaneous malignant, 9" EXACT [OMIM:615134, OMIM:genemap2] +synonym: "CMM9" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "melanoma, cutaneous malignant, 9" EXACT [] synonym: "melanoma, cutaneous malignant, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:615134] -synonym: "melanoma, cutaneous malignant, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:615134] -synonym: "susceptibility to cutaneous malignant melanoma 9" RELATED [OMIM:615134] +synonym: "melanoma, cutaneous malignant, susceptibility to, type 9" EXACT [MONDORULE:1] +synonym: "susceptibility to cutaneous malignant melanoma 9" RELATED [] xref: MEDGEN:767488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615134 {source="MONDO:equivalentTo"} xref: Orphanet:618 {source="OMIM:615134"} @@ -323414,7 +323474,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18388", source="MONDO:GARD"} subset: rare synonym: "maple syrup urine disease, mild variant" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615135] -synonym: "MSUDMV" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615135] +synonym: "MSUDMV" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18388 {source="MONDO:GARD"} xref: MEDGEN:767489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615135 {source="MONDO:equivalentTo"} @@ -323436,8 +323496,8 @@ subset: ordo_disorder {source="Orphanet:352712"} subset: orphanet_rare {source="Orphanet:352712"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "facial dysmorphism, immunodeficiency, livedo, and short stature" RELATED [MONDO:Lexical, OMIM:615139] -synonym: "fils" RELATED [MONDO:Lexical, OMIM:615139] +synonym: "facial dysmorphism, immunodeficiency, livedo, and short stature" RELATED [MONDO:Lexical] +synonym: "fils" RELATED [MONDO:Lexical] synonym: "fils syndrome" EXACT [Orphanet:352712] xref: GARD:17528 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:352712/attributed", source="Orphanet:352712/ntbt", source="Orphanet:352712"} @@ -323455,11 +323515,11 @@ def: "Any microphthalmia, isolated, with coloboma in which the cause of the dise subset: gard_rare {source="GARD:15909", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCOPCB9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615145] -synonym: "microphthalmia, isolated, with coloboma 9" EXACT [MONDO:Lexical, OMIM:615145] +synonym: "MCOPCB9" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microphthalmia, isolated, with coloboma 9" EXACT [MONDO:Lexical] synonym: "microphthalmia, isolated, with coloboma caused by mutation in TENM3" EXACT [MONDO:design_pattern] -synonym: "microphthalmia, isolated, with coloboma type 9" EXACT [MONDORULE:1, OMIM:615145] -synonym: "microphthalmia, syndromic 15" EXACT [OMIM:615145, OMIM:genemap2] +synonym: "microphthalmia, isolated, with coloboma type 9" EXACT [MONDORULE:1] +synonym: "microphthalmia, syndromic 15" EXACT [] synonym: "TENM3 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15909 {source="MONDO:GARD"} xref: MEDGEN:767506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323482,8 +323542,8 @@ subset: ordo_disorder {source="Orphanet:352718"} subset: orphanet_rare {source="Orphanet:352718"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "RDCCAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615147] -synonym: "retinal dystrophy, iris coloboma, and comedogenic acne syndrome" RELATED [MONDO:Lexical, OMIM:615147] +synonym: "RDCCAS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "retinal dystrophy, iris coloboma, and comedogenic acne syndrome" RELATED [MONDO:Lexical] synonym: "retinol dystrophy-iris coloboma-comedogenic acne syndrome" EXACT [Orphanet:352718] xref: GARD:17529 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:352718", source="Orphanet:352718/attributed", source="Orphanet:352718/ntbt", source="MONDO:directSiblingOf"} @@ -323506,9 +323566,9 @@ subset: orphanet_rare {source="Orphanet:438117"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome" EXACT [Orphanet:438117] -synonym: "dislocated hips and radial heads, carpal coalition, scoliosis, and short stature" RELATED [OMIM:615155] -synonym: "steel syndrome" EXACT [MONDO:Lexical, OMIM:615155] -synonym: "STLS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615155] +synonym: "dislocated hips and radial heads, carpal coalition, scoliosis, and short stature" RELATED [] +synonym: "steel syndrome" EXACT [MONDO:Lexical, OMIM:615155, Orphanet:438117] +synonym: "STLS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17735 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:438117", source="Orphanet:438117/attributed", source="Orphanet:438117/ntbt"} xref: MEDGEN:767508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323531,13 +323591,13 @@ subset: ordo_disorder {source="Orphanet:352470"} subset: orphanet_rare {source="Orphanet:352470"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mitochondrial DNA deletion syndrome with limb-girdle weakness" EXACT [Orphanet:352470] -synonym: "mtDNA deletion syndrome with limb-girdle weakness" EXACT [Orphanet:352470] -synonym: "mtDNA deletion syndrome with progressive myopathy" EXACT [Orphanet:352470] -synonym: "PEOA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615156] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6" RELATED [MONDO:Lexical, OMIM:615156] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:615156] -synonym: "progressive external ophthalmoplegia, autosomal dominant 6" RELATED [OMIM:615156] +synonym: "mitochondrial DNA deletion syndrome with limb-girdle weakness" EXACT [DOID:0111519, Orphanet:352470] +synonym: "mtDNA deletion syndrome with limb-girdle weakness" EXACT [DOID:0111519, Orphanet:352470] +synonym: "mtDNA deletion syndrome with progressive myopathy" EXACT [DOID:0111519, Orphanet:352470] +synonym: "PEOA6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6" RELATED [MONDO:Lexical] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6" EXACT [MONDORULE:1] +synonym: "progressive external ophthalmoplegia, autosomal dominant 6" RELATED [] xref: DOID:0111519 {source="MONDO:equivalentTo"} xref: GARD:17518 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:352470/attributed", source="Orphanet:352470/ntbt", source="Orphanet:352470"} @@ -323556,10 +323616,10 @@ def: "Any mitochondrial complex III deficiency in which the cause of the disease subset: gard_rare {source="GARD:15910", source="MONDO:GARD"} subset: rare synonym: "MC3DN2" EXACT ABBREVIATION [DOID:0060351, MONDO:Lexical, OMIM:615157] -synonym: "mitochondrial Complex 3 deficiency, nuclear type 2" RELATED [OMIM:615157] +synonym: "mitochondrial Complex 3 deficiency, nuclear type 2" RELATED [] synonym: "mitochondrial complex III deficiency caused by mutation in TTC19" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex III deficiency nuclear type 2" EXACT CLINGEN_LABEL [] -synonym: "mitochondrial complex III deficiency, nuclear type 2" RELATED [MONDO:Lexical, OMIM:615157] +synonym: "mitochondrial complex III deficiency nuclear type 2" EXACT CLINGEN_LABEL [DOID:0060351] +synonym: "mitochondrial complex III deficiency, nuclear type 2" RELATED [MONDO:Lexical] synonym: "TTC19 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060351 {source="MONDO:equivalentTo"} xref: GARD:15910 {source="MONDO:GARD"} @@ -323580,10 +323640,10 @@ name: mitochondrial complex III deficiency nuclear type 3 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15911", source="MONDO:GARD"} subset: rare -synonym: "MC3DN3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615158] -synonym: "mitochondrial Complex 3 deficiency, nuclear type 3" RELATED [OMIM:615158] +synonym: "MC3DN3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mitochondrial Complex 3 deficiency, nuclear type 3" RELATED [] synonym: "mitochondrial complex III deficiency caused by mutation in UQCRB" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex III deficiency, nuclear type 3" RELATED [MONDO:Lexical, OMIM:615158] +synonym: "mitochondrial complex III deficiency, nuclear type 3" RELATED [MONDO:Lexical] synonym: "UQCRB mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080112 {source="MONDO:equivalentTo"} xref: GARD:15911 {source="MONDO:GARD"} @@ -323604,10 +323664,10 @@ name: mitochondrial complex III deficiency nuclear type 4 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15912", source="MONDO:GARD"} subset: rare -synonym: "MC3DN4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615159] -synonym: "mitochondrial Complex 3 deficiency, nuclear type 4" RELATED [OMIM:615159] +synonym: "MC3DN4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mitochondrial Complex 3 deficiency, nuclear type 4" RELATED [] synonym: "mitochondrial complex III deficiency caused by mutation in UQCRQ" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex III deficiency, nuclear type 4" RELATED [MONDO:Lexical, OMIM:615159] +synonym: "mitochondrial complex III deficiency, nuclear type 4" RELATED [MONDO:Lexical] synonym: "UQCRQ mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080113 {source="MONDO:equivalentTo"} xref: GARD:15912 {source="MONDO:GARD"} @@ -323628,10 +323688,10 @@ name: mitochondrial complex III deficiency nuclear type 5 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15913", source="MONDO:GARD"} subset: rare -synonym: "MC3DN5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615160] -synonym: "mitochondrial Complex 3 deficiency, nuclear type 5" RELATED [OMIM:615160] +synonym: "MC3DN5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mitochondrial Complex 3 deficiency, nuclear type 5" RELATED [] synonym: "mitochondrial complex III deficiency caused by mutation in UQCRC2" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex III deficiency, nuclear type 5" RELATED [MONDO:Lexical, OMIM:615160] +synonym: "mitochondrial complex III deficiency, nuclear type 5" RELATED [MONDO:Lexical] synonym: "UQCRC2 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080114 {source="MONDO:equivalentTo"} xref: GARD:15913 {source="MONDO:GARD"} @@ -323656,9 +323716,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:357175"} subset: orphanet_rare {source="Orphanet:357175"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, autosomal recessive 35" RELATED [MONDO:Lexical, OMIM:615162] -synonym: "mental retardation, autosomal recessive 35" RELATED DEPRECATED [MONDO:Lexical, OMIM:615162] -synonym: "MRT35" RELATED DEPRECATED [MONDO:Lexical, OMIM:615162] +synonym: "intellectual disability, autosomal recessive 35" RELATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 35" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRT35" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081201 {source="MONDO:equivalentTo"} xref: GARD:17548 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:357175/attributed", source="Orphanet:357175/ntbt", source="Orphanet:357175"} @@ -323677,8 +323737,8 @@ def: "A cone-rod dystrophy that has material basis in variation in the chromosom subset: gard_rare {source="GARD:15914", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 17" EXACT [MONDO:Lexical, OMIM:615163] -synonym: "cone-rod dystrophy type 17" EXACT [DOID:0111023, MONDORULE:2] +synonym: "cone-rod dystrophy 17" EXACT [DOID:0111023, MONDO:Lexical, OMIM:615163] +synonym: "cone-rod dystrophy type 17" EXACT [MONDORULE:2] synonym: "CORD17" EXACT ABBREVIATION [DOID:0111023, MONDO:Lexical, OMIM:615163] xref: DOID:0111023 {source="MONDO:equivalentTo"} xref: GARD:15914 {source="MONDO:GARD"} @@ -323697,10 +323757,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:357332"} subset: orphanet_rare {source="Orphanet:357332"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome" RELATED [OMIM:615170] +synonym: "camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome" RELATED [] synonym: "Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome" EXACT [Orphanet:357332] -synonym: "WAHAB syndrome" RELATED [OMIM:615170] -synonym: "Wahab syndrome" EXACT [Orphanet:357332] +synonym: "WAHAB syndrome" RELATED [] +synonym: "Wahab syndrome" EXACT [OMIM:615170, Orphanet:357332] xref: GARD:17551 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:357332/attributed", source="Orphanet:357332/ntbt", source="Orphanet:357332"} xref: MEDGEN:767525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323719,12 +323779,12 @@ subset: ordo_disorder {source="Orphanet:352745"} subset: orphanet_rare {source="Orphanet:352745"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "albinism, oculocutaneous, type 7" RELATED [OMIM:615179] -synonym: "albinism, oculocutaneous, type VII" RELATED [MONDO:Lexical, OMIM:615179] +synonym: "albinism, oculocutaneous, type 7" RELATED [] +synonym: "albinism, oculocutaneous, type VII" RELATED [MONDO:Lexical] synonym: "LRMDA oculocutaneous albinism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OCA7" EXACT ABBREVIATION [DOID:0070100, MONDO:Lexical, OMIM:615179, Orphanet:352745] synonym: "oculocutaneous albinism caused by mutation in LRMDA" EXACT [MONDO:design_pattern] -synonym: "oculocutaneous albinism type VII" RELATED [DOID:0070100] +synonym: "oculocutaneous albinism type VII" RELATED [] xref: DOID:0070100 {source="MONDO:equivalentTo"} xref: GARD:17531 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="Orphanet:352745/attributed", source="Orphanet:352745/ntbt", source="Orphanet:352745"} @@ -323747,12 +323807,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "B3GALNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MDDGA11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615181] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11" RELATED [OMIM:615181] +synonym: "MDDGA11" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615181] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11" EXACT [OMIM:615181, OMIM:genemap2] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2" EXACT [MONDO:design_pattern] -synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related" RELATED [OMIM:615181] +synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related" RELATED [] xref: DOID:0111230 {source="MONDO:equivalentTo"} xref: GARD:15915 {source="MONDO:GARD"} xref: MEDGEN:767552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323777,13 +323837,13 @@ subset: ordo_disorder {source="Orphanet:356978"} subset: orphanet_rare {source="Orphanet:356978"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined D-2- and L-2-hydroxyglutaric aciduria" RELATED [MONDO:Lexical, OMIM:615182] -synonym: "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" EXACT [Orphanet:356978] -synonym: "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" EXACT [Orphanet:356978] -synonym: "D,L-2-HGA" EXACT [Orphanet:356978] -synonym: "D,L-2-hydroxyglutaric acidemia" EXACT [Orphanet:356978] -synonym: "D,L-2-hydroxyglutaric aciduria" EXACT CLINGEN_LABEL [] -synonym: "D2L2AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615182] +synonym: "combined D-2- and L-2-hydroxyglutaric aciduria" RELATED [MONDO:Lexical] +synonym: "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" EXACT [DOID:0111619, Orphanet:356978] +synonym: "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" EXACT [DOID:0111619, Orphanet:356978] +synonym: "D,L-2-HGA" EXACT ABBREVIATION [DOID:0111619, Orphanet:356978] +synonym: "D,L-2-hydroxyglutaric acidemia" EXACT [DOID:0111619, Orphanet:356978] +synonym: "D,L-2-hydroxyglutaric aciduria" EXACT CLINGEN_LABEL [DOID:0111619, Orphanet:356978] +synonym: "D2L2AD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111619 {source="MONDO:equivalentTo"} xref: GARD:17540 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:356978", source="Orphanet:356978/attributed", source="Orphanet:356978/ntbt"} @@ -323803,11 +323863,11 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15916", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1II" RELATED [MONDO:Lexical, OMIM:615184] -synonym: "cardiomyopathy, dilated, type 1II" EXACT [MONDORULE:6, OMIM:615184] +synonym: "cardiomyopathy, dilated, 1II" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1II" EXACT [MONDORULE:6] synonym: "CMD1II" EXACT ABBREVIATION [DOID:0110450, MONDO:Lexical, OMIM:615184] synonym: "CRYAB familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "dilated cardiomyopathy type 1II" EXACT [DOID:0110450, MONDORULE:6] +synonym: "dilated cardiomyopathy type 1II" EXACT [MONDORULE:6] synonym: "familial isolated dilated cardiomyopathy caused by mutation in CRYAB" EXACT [MONDO:design_pattern] xref: DOID:0110450 {source="MONDO:equivalentTo"} xref: GARD:15916 {source="MONDO:GARD"} @@ -323829,10 +323889,10 @@ subset: ordo_disorder {source="Orphanet:352670"} subset: orphanet_rare {source="Orphanet:352670"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" EXACT [DOID:0110206] -synonym: "Charcot-Marie-Tooth disease dominant intermediate type F" EXACT [DOID:0110206, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, dominant intermediate F" RELATED [MONDO:Lexical, OMIM:615185] -synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type F" EXACT [MONDORULE:1, OMIM:615185] +synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" EXACT [DOID:0110206, Orphanet:352670] +synonym: "Charcot-Marie-Tooth disease dominant intermediate type F" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, dominant intermediate F" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, dominant Intermediate type F" EXACT [MONDORULE:1] synonym: "CMTDIF" EXACT ABBREVIATION [DOID:0110206, MONDO:Lexical, OMIM:615185, Orphanet:352670] synonym: "DI-CMTF" RELATED [GARD:0009206] synonym: "GNB4-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009206] @@ -323854,8 +323914,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant cataract 39 multiple types" EXACT [DOID:0110236] -synonym: "cataract 39, multiple types" RELATED [MONDO:Lexical, OMIM:615188] -synonym: "cataract 39, multiple types, autosomal dominant" EXACT [OMIM:615188, OMIM:genemap2] +synonym: "cataract 39, multiple types" RELATED [MONDO:Lexical] +synonym: "cataract 39, multiple types, autosomal dominant" EXACT [] synonym: "CRYGB early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CTRCT39" EXACT ABBREVIATION [DOID:0110236, MONDO:Lexical, OMIM:615188] synonym: "early-onset non-syndromic cataract caused by mutation in CRYGB" EXACT [MONDO:design_pattern] @@ -323883,11 +323943,11 @@ subset: gard_rare {source="GARD:15917", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive dyskeratosis congenita 5" RELATED [DOID:0070022] -synonym: "DKCB5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615190] -synonym: "dyskeratosis congenita, autosomal dominant 4" RELATED [OMIM:615190] -synonym: "dyskeratosis congenita, autosomal recessive 5" EXACT [MONDO:Lexical, OMIM:615190] -synonym: "dyskeratosis congenita, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:615190] +synonym: "autosomal recessive dyskeratosis congenita 5" RELATED [] +synonym: "DKCB5" EXACT ABBREVIATION [DOID:0070022, MONDO:Lexical, NCIT:C176928, OMIM:615190] +synonym: "dyskeratosis congenita, autosomal dominant 4" RELATED [] +synonym: "dyskeratosis congenita, autosomal recessive 5" EXACT [MONDO:Lexical, NCIT:C176928, OMIM:615190] +synonym: "dyskeratosis congenita, autosomal recessive type 5" EXACT [MONDORULE:1] xref: DOID:0070020 {source="MONDO:relatedTo"} xref: DOID:0070022 {source="MONDO:equivalentTo"} xref: GARD:15917 {source="MONDO:GARD"} @@ -323918,12 +323978,12 @@ subset: orphanet_rare {source="Orphanet:352682"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cobblestone lissencephaly without muscular or eye involvement" EXACT [Orphanet:352682] -synonym: "cobblestone lissencephaly without muscular or ocular involvement" EXACT CLINGEN_LABEL [] -synonym: "LIS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615191] -synonym: "lissencephaly 5" RELATED [MONDO:Lexical, OMIM:615191] +synonym: "cobblestone lissencephaly without muscular or ocular involvement" EXACT CLINGEN_LABEL [Orphanet:352682] +synonym: "LIS5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lissencephaly 5" RELATED [MONDO:Lexical] synonym: "lissencephaly type 2 without muscular or eye involvement" EXACT [Orphanet:352682] synonym: "lissencephaly type 2 without muscular or ocular involvement" EXACT [Orphanet:352682] -synonym: "lissencephaly type 5" EXACT [MONDORULE:1, OMIM:615191] +synonym: "lissencephaly type 5" EXACT [MONDORULE:1] xref: DOID:0112230 {source="MONDO:equivalentTo"} xref: GARD:17526 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:352682/attributed", source="Orphanet:352682/ntbt", source="Orphanet:352682"} @@ -323948,10 +324008,10 @@ subset: rare synonym: "ACTN1 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant macrothrombocytopenia ACTN1-related" EXACT [DOID:0111053] synonym: "BDPLT15" EXACT ABBREVIATION [DOID:0111053, MONDO:Lexical, OMIM:615193] -synonym: "bleeding disorder, platelet-type, 15" RELATED [MONDO:Lexical, OMIM:615193] +synonym: "bleeding disorder, platelet-type, 15" RELATED [MONDO:Lexical] synonym: "inherited bleeding disorder, platelet-type caused by mutation in ACTN1" EXACT [MONDO:design_pattern] -synonym: "macrothrombocytopenia, autosomal dominant, ACTN1-related" RELATED [OMIM:615193] -synonym: "platelet-type bleeding disorder 15" EXACT CLINGEN_LABEL [] +synonym: "macrothrombocytopenia, autosomal dominant, ACTN1-related" RELATED [] +synonym: "platelet-type bleeding disorder 15" EXACT CLINGEN_LABEL [DOID:0111053] xref: DOID:0111053 {source="MONDO:equivalentTo"} xref: GARD:18272 {source="MONDO:GARD"} xref: MEDGEN:767577 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323970,7 +324030,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014079 name: restless legs syndrome, susceptibility to, 8 subset: predisposition -synonym: "restless legs syndrome 8" EXACT [OMIM:615197, OMIM:genemap2] +synonym: "restless legs syndrome 8" EXACT [] synonym: "restless legs syndrome, susceptibility to, 8" EXACT [OMIM:615197] synonym: "RLS8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615197] xref: MEDGEN:767578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -323993,7 +324053,7 @@ subset: orphanet_rare {source="Orphanet:500548"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "OSMD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615198] -synonym: "osteosclerotic metaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:615198] +synonym: "osteosclerotic metaphyseal dysplasia" EXACT [DOID:0081111, MONDO:Lexical, OMIM:615198, Orphanet:500548] xref: DOID:0081111 {source="MONDO:equivalentTo"} xref: GARD:17931 {source="MONDO:GARD"} xref: MEDGEN:767579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -324016,13 +324076,13 @@ subset: ordo_disorder {source="Orphanet:357237"} subset: orphanet_rare {source="Orphanet:357237"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CARD11 immunodeficiency" RELATED [OMIM:615206] -synonym: "IMD11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615206] -synonym: "IMD11A" RELATED ABBREVIATION [OMIM:615206] -synonym: "immunodeficiency 11" RELATED [MONDO:Lexical, OMIM:615206] -synonym: "immunodeficiency 11A" EXACT [OMIM:615206, OMIM:genemap2] -synonym: "immunodeficiency type 11" EXACT [MONDORULE:2, OMIM:615206] -synonym: "SCID due to CARD11 deficiency" EXACT [Orphanet:357237] +synonym: "CARD11 immunodeficiency" RELATED [] +synonym: "IMD11" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "IMD11A" RELATED ABBREVIATION [] +synonym: "immunodeficiency 11" RELATED [MONDO:Lexical] +synonym: "immunodeficiency 11A" EXACT [DOID:0111957, OMIM:615206] +synonym: "immunodeficiency type 11" EXACT [MONDORULE:2] +synonym: "SCID due to CARD11 deficiency" EXACT [DOID:0111957] xref: DOID:0111957 {source="MONDO:equivalentTo"} xref: GARD:17549 {source="MONDO:GARD"} xref: ICD10CM:D81.2 {source="Orphanet:357237", source="Orphanet:357237/attributed", source="Orphanet:357237/ntbt"} @@ -324045,9 +324105,9 @@ subset: orphanet_rare {source="Orphanet:357329"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cryptosporidiosis-chronic cholangitis-liver disease syndrome" EXACT CLINGEN_LABEL [] -synonym: "IL21R immunodeficiency" RELATED [OMIM:615207] -synonym: "IMD56" RELATED ABBREVIATION [OMIM:615207] -synonym: "immunodeficiency 56" RELATED [OMIM:615207] +synonym: "IL21R immunodeficiency" RELATED [] +synonym: "IMD56" RELATED ABBREVIATION [] +synonym: "immunodeficiency 56" RELATED [] xref: DOID:0111982 {source="MONDO:equivalentTo"} xref: GARD:17550 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:357329", source="Orphanet:357329/attributed", source="Orphanet:357329/ntbt"} @@ -324068,8 +324128,8 @@ subset: gard_rare {source="GARD:15918", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "agammaglobulinemia 7, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615214] -synonym: "agammaglobulinemia, autosomal recessive, due to PIK3R1 defect" RELATED [OMIM:615214] -synonym: "AGM7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615214] +synonym: "agammaglobulinemia, autosomal recessive, due to PIK3R1 defect" RELATED [] +synonym: "AGM7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "autosomal agammaglobulinemia caused by mutation in PIK3R1" EXACT [MONDO:design_pattern] synonym: "PIK3R1 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081139 {source="MONDO:equivalentTo"} @@ -324092,9 +324152,9 @@ name: ataxia with oculomotor apraxia type 3 subset: gard_rare {source="GARD:13112", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AOA3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615217] +synonym: "AOA3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ataxia-oculomotor apraxia 3" EXACT [DOID:0060557, MONDO:Lexical, OMIM:615217] -synonym: "ataxia-oculomotor apraxia type 3" EXACT [MONDORULE:1, OMIM:615217] +synonym: "ataxia-oculomotor apraxia type 3" EXACT [MONDORULE:1] synonym: "ataxia-oculomotor apraxia-3" RELATED [GARD:0013112] xref: DOID:0060557 {source="MONDO:equivalentTo"} xref: GARD:13112 {source="MONDO:GARD"} @@ -324113,10 +324173,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "congenital hydrocephalus caused by mutation in MPDZ" EXACT [MONDO:design_pattern] -synonym: "HYC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615219] -synonym: "hydrocephalus, congenital, 2, with or without brain or eye anomalies" EXACT [OMIM:615219, OMIM:genemap2] -synonym: "hydrocephalus, nonsyndromic, autosomal recessive 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615219] -synonym: "hydrocephalus, nonsyndromic, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:615219] +synonym: "HYC2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hydrocephalus, congenital, 2, with or without brain or eye anomalies" EXACT [OMIM:615219] +synonym: "hydrocephalus, nonsyndromic, autosomal recessive 2" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "hydrocephalus, nonsyndromic, autosomal recessive type 2" EXACT [MONDORULE:1] synonym: "MPDZ congenital hydrocephalus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:767605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615219 {source="MONDO:equivalentTo"} @@ -324135,12 +324195,12 @@ def: "Any osteogenesis imperfecta in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15919", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "OI, type 15" RELATED [OMIM:615220] +synonym: "OI, type 15" RELATED [] synonym: "OI15" EXACT ABBREVIATION [DOID:0110347, MONDO:Lexical, OMIM:615220] synonym: "osteogenesis imperfecta caused by mutation in WNT1" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XV" EXACT [DOID:0110347] -synonym: "osteogenesis imperfecta, type 15" RELATED [OMIM:615220] -synonym: "osteogenesis imperfecta, type XV" RELATED [MONDO:Lexical, OMIM:615220] +synonym: "osteogenesis imperfecta, type 15" RELATED [] +synonym: "osteogenesis imperfecta, type XV" RELATED [MONDO:Lexical] synonym: "WNT1 osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110347 {source="MONDO:equivalentTo"} xref: GARD:15919 {source="MONDO:GARD"} @@ -324166,11 +324226,11 @@ subset: gard_rare {source="GARD:15921", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "RAB33B Smith-McCort dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Smc2" RELATED [MONDO:Lexical, OMIM:615222] -synonym: "SMITH-McCort dysplasia 2" RELATED [OMIM:615222] -synonym: "Smith-McCort dysplasia 2" EXACT [MONDO:Lexical, OMIM:615222] +synonym: "Smc2" RELATED [MONDO:Lexical] +synonym: "SMITH-McCort dysplasia 2" RELATED [] +synonym: "Smith-McCort dysplasia 2" EXACT [DOID:0081271, MONDO:Lexical, OMIM:615222] synonym: "Smith-McCort dysplasia caused by mutation in RAB33B" EXACT [MONDO:design_pattern] -synonym: "Smith-McCort dysplasia type 2" EXACT [MONDORULE:1, OMIM:615222] +synonym: "Smith-McCort dysplasia type 2" EXACT [MONDORULE:1] xref: DOID:0081271 {source="MONDO:equivalentTo"} xref: GARD:15921 {source="MONDO:GARD"} xref: MEDGEN:811489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -324192,10 +324252,10 @@ subset: gard_rare {source="GARD:15922", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "advanced sleep phase syndrome caused by mutation in CSNK1D" EXACT [MONDO:design_pattern] -synonym: "advanced sleep phase syndrome type 2" EXACT [DOID:0110012, MONDORULE:1] -synonym: "advanced sleep phase syndrome, familial, 2" RELATED [MONDO:Lexical, OMIM:615224] -synonym: "advanced sleep phase syndrome, familial, type 2" EXACT [MONDORULE:1, OMIM:615224] -synonym: "advanced sleep-phase syndrome, familial, 2" EXACT [OMIM:615224, OMIM:genemap2] +synonym: "advanced sleep phase syndrome type 2" EXACT [MONDORULE:1] +synonym: "advanced sleep phase syndrome, familial, 2" RELATED [MONDO:Lexical] +synonym: "advanced sleep phase syndrome, familial, type 2" EXACT [MONDORULE:1] +synonym: "advanced sleep-phase syndrome, familial, 2" EXACT [] synonym: "CSNK1D advanced sleep phase syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial advanced sleep phase syndrome 2" EXACT [DOID:0110012] synonym: "FASPS2" EXACT ABBREVIATION [DOID:0110012, MONDO:Lexical, OMIM:615224] @@ -324220,11 +324280,11 @@ subset: ordo_disorder {source="Orphanet:352662"} subset: orphanet_rare {source="Orphanet:352662"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CIDED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615225] -synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia" RELATED [MONDO:Lexical, OMIM:615225] -synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly" RELATED [OMIM:615225] -synonym: "MSPC" EXACT ABBREVIATION [OMIM:616964] -synonym: "palmoplantar carcinoma, multiple self-healing" EXACT [OMIM:616964] +synonym: "CIDED" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia" RELATED [MONDO:Lexical] +synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly" RELATED [] +synonym: "MSPC" EXACT ABBREVIATION [OMIM:615225] +synonym: "palmoplantar carcinoma, multiple self-healing" EXACT [OMIM:615225] synonym: "palmoplantar carcinoma, multiple self-healing; MSPC" EXACT [] xref: GARD:17525 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:352662/attributed", source="Orphanet:352662/ntbt", source="Orphanet:352662"} @@ -324244,7 +324304,7 @@ name: polydactyly, postaxial, type A6 subset: gard_rare {source="GARD:18176", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PAPA6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615226] +synonym: "PAPA6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "polydactyly, postaxial, type A6" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615226] xref: GARD:18176 {source="MONDO:GARD"} xref: MEDGEN:815219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -324261,11 +324321,11 @@ def: "Any mitochondrial complex deficiency in which the cause of the disease is subset: gard_rare {source="GARD:18667", source="MONDO:GARD"} subset: rare synonym: "ATP5F1A mitochondrial complex deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MC5DN4B" EXACT ABBREVIATION [DOID:0060333, MONDO:Lexical, OMIM:615228] -synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type" RELATED [OMIM:615228] -synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4" RELATED [OMIM:615228] +synonym: "MC5DN4B" EXACT ABBREVIATION [DOID:0070462, MONDO:Lexical, OMIM:615228] +synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type" RELATED [] +synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4" RELATED [] synonym: "mitochondrial complex deficiency caused by mutation in ATP5F1A" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4" RELATED [MONDO:Lexical, OMIM:615228] +synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4" RELATED [MONDO:Lexical] xref: DOID:0070462 {source="MONDO:equivalentTo"} xref: GARD:18667 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="DOID:0060333"} @@ -324284,11 +324344,11 @@ id: MONDO:0014092 name: schizophrenia 18 def: "A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2." [DOID:0070093] synonym: "chromosome 7q36.3 Duplication syndrome, 362-Kb" EXACT [DOID:0070093] -synonym: "schizoaffective disorder" RELATED [OMIM:615232] -synonym: "schizophrenia 18" EXACT [MONDO:Lexical, OMIM:615232] -synonym: "schizophrenia 18 with or without an affective disorder" RELATED [OMIM:615232] -synonym: "schizophrenia susceptibility 18" EXACT [OMIM:615232, OMIM:genemap2] -synonym: "schizophrenia type 18" EXACT [MONDORULE:2, OMIM:615232] +synonym: "schizoaffective disorder" RELATED [] +synonym: "schizophrenia 18" EXACT [DOID:0070093, MONDO:Lexical, OMIM:615232] +synonym: "schizophrenia 18 with or without an affective disorder" RELATED [] +synonym: "schizophrenia susceptibility 18" EXACT [] +synonym: "schizophrenia type 18" EXACT [MONDORULE:2] synonym: "SCZD18" EXACT ABBREVIATION [DOID:0070093, MONDO:Lexical, OMIM:615232] xref: DOID:0070093 {source="MONDO:equivalentTo"} xref: MEDGEN:815243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -324311,9 +324371,9 @@ subset: gard_rare {source="GARD:15923", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "RBP3 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 66" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615233] +synonym: "retinitis pigmentosa 66" EXACT CLINGEN_LABEL [DOID:0110393, MONDO:Lexical, OMIM:615233] synonym: "retinitis pigmentosa caused by mutation in RBP3" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 66" EXACT [DOID:0110393, MONDORULE:2, OMIM:615233] +synonym: "retinitis pigmentosa type 66" EXACT [MONDORULE:2] synonym: "RP66" EXACT ABBREVIATION [DOID:0110393, MONDO:Lexical, OMIM:615233] xref: DOID:0110393 {source="MONDO:equivalentTo"} xref: GARD:15923 {source="MONDO:GARD"} @@ -324337,9 +324397,9 @@ subset: ordo_disorder {source="Orphanet:300298"} subset: orphanet_rare {source="Orphanet:300298"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AHMIO2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615234] -synonym: "anemia, hypochromic microcytic, with iron overload 2" RELATED [MONDO:Lexical, OMIM:615234] -synonym: "anemia, hypochromic microcytic, with iron overload type 2" EXACT [MONDORULE:1, OMIM:615234] +synonym: "AHMIO2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "anemia, hypochromic microcytic, with iron overload 2" RELATED [MONDO:Lexical] +synonym: "anemia, hypochromic microcytic, with iron overload type 2" EXACT [MONDORULE:1] synonym: "severe congenital hypochromic sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "severe congenital hypochromic sideroblastic anemia" EXACT [Orphanet:300298] xref: GARD:17364 {source="MONDO:GARD"} @@ -324364,10 +324424,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:15924", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1JJ" RELATED [MONDO:Lexical, OMIM:615235] -synonym: "cardiomyopathy, dilated, type 1Jj" EXACT [MONDORULE:9, OMIM:615235] +synonym: "cardiomyopathy, dilated, 1JJ" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Jj" EXACT [MONDORULE:9] synonym: "CMD1JJ" EXACT ABBREVIATION [DOID:0110438, MONDO:Lexical, OMIM:615235] -synonym: "dilated cardiomyopathy type 1JJ" EXACT [DOID:0110438, MONDORULE:9] +synonym: "dilated cardiomyopathy type 1JJ" EXACT [MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in LAMA4" EXACT [MONDO:design_pattern] synonym: "LAMA4 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110438 {source="MONDO:equivalentTo"} @@ -324387,8 +324447,8 @@ subset: gard_rare {source="GARD:3498", source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:137658"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "WOODS syndrome" RELATED [OMIM:615236] -synonym: "Woods-Crouchman-Huson syndrome" EXACT [Orphanet:137658] +synonym: "WOODS syndrome" RELATED [] +synonym: "Woods-Crouchman-Huson syndrome" EXACT [] xref: GARD:3498 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:137658", source="Orphanet:137658/attributed", source="Orphanet:137658/ntbt"} xref: MEDGEN:490089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -324411,8 +324471,8 @@ subset: ordo_morphological_anomaly {source="Orphanet:2301"} subset: orphanet_rare {source="Orphanet:2301"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital short bowel syndrome" EXACT [MONDO:Lexical, OMIM:615237] -synonym: "CSBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615237] +synonym: "congenital short bowel syndrome" EXACT [MONDO:Lexical, Orphanet:2301] +synonym: "CSBS" EXACT ABBREVIATION [MONDO:Lexical] xref: GARD:16592 {source="MONDO:GARD"} xref: ICD10CM:Q43.8 {source="Orphanet:2301/attributed", source="Orphanet:2301/ntbt", source="Orphanet:2301"} xref: icd11.foundation:1672462112 {source="Orphanet:2301", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -324434,11 +324494,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:435651"} subset: orphanet_rare {source="Orphanet:435651"} subset: rare -synonym: "CIDEC-related familial partial lipodystrophy" EXACT CLINGEN_LABEL [] -synonym: "CIDEC-related FPLD" EXACT [Orphanet:435651] -synonym: "FPLD5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615238, Orphanet:435651] -synonym: "lipodystrophy, familial partial, associated with Cidec mutations" RELATED [OMIM:615238] -synonym: "lipodystrophy, familial partial, type 5" RELATED [MONDO:Lexical, OMIM:615238] +synonym: "CIDEC-related familial partial lipodystrophy" EXACT CLINGEN_LABEL [Orphanet:435651] +synonym: "CIDEC-related FPLD" EXACT [DOID:0070203, Orphanet:435651] +synonym: "FPLD5" EXACT ABBREVIATION [DOID:0070203, MONDO:Lexical, OMIM:615238, Orphanet:435651] +synonym: "lipodystrophy, familial partial, associated with Cidec mutations" RELATED [] +synonym: "lipodystrophy, familial partial, type 5" RELATED [MONDO:Lexical] xref: DOID:0070203 {source="MONDO:equivalentTo"} xref: GARD:13125 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="Orphanet:435651/attributed", source="Orphanet:435651/ntbt", source="Orphanet:435651"} @@ -324458,7 +324518,7 @@ subset: rare synonym: "ARHGDIA nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nephrotic syndrome caused by mutation in ARHGDIA" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 8" EXACT [MONDO:Lexical, OMIM:615244] -synonym: "NPHS8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615244] +synonym: "NPHS8" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080389 {source="MONDO:equivalentTo"} xref: GARD:15925 {source="MONDO:GARD"} xref: MEDGEN:815283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -324479,14 +324539,14 @@ def: "Any dilated cardiomyopathy in which the cause of the disease is a mutation subset: gard_rare {source="GARD:15926", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1KK" RELATED [MONDO:Lexical, OMIM:615248] -synonym: "cardiomyopathy, dilated, type 1Kk" EXACT [MONDORULE:9, OMIM:615248] -synonym: "cardiomyopathy, familial hypertrophic, 22" RELATED [OMIM:615248] -synonym: "cardiomyopathy, familial restrictive, 4" RELATED [OMIM:615248] -synonym: "cardiomyopathy, hypertrophic, 22" EXACT [OMIM:615248, OMIM:genemap2] +synonym: "cardiomyopathy, dilated, 1KK" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Kk" EXACT [MONDORULE:9] +synonym: "cardiomyopathy, familial hypertrophic, 22" RELATED [] +synonym: "cardiomyopathy, familial restrictive, 4" RELATED [] +synonym: "cardiomyopathy, hypertrophic, 22" EXACT [] synonym: "CMD1KK" EXACT ABBREVIATION [DOID:0110445, MONDO:Lexical, OMIM:615248] synonym: "dilated cardiomyopathy caused by mutation in MYPN" EXACT [MONDO:design_pattern] -synonym: "dilated cardiomyopathy type 1KK" EXACT [DOID:0110445, MONDORULE:9] +synonym: "dilated cardiomyopathy type 1KK" EXACT [MONDORULE:9] synonym: "MYPN dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110445 {source="MONDO:equivalentTo"} xref: GARD:15926 {source="MONDO:GARD"} @@ -324516,12 +324576,12 @@ subset: gard_rare {source="GARD:15927", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDDGA12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615249] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12" RELATED [OMIM:615249] +synonym: "MDDGA12" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" EXACT [MONDO:Lexical, OMIM:615249] synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK" EXACT [MONDO:design_pattern] synonym: "POMK muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related" RELATED [OMIM:615249] +synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related" RELATED [] xref: DOID:0111235 {source="MONDO:equivalentTo"} xref: GARD:15927 {source="MONDO:GARD"} xref: MEDGEN:815294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -324542,8 +324602,8 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m subset: gard_rare {source="GARD:15928", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HH17" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615266] -synonym: "hypogonadotropic hypogonadism 17 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615266] +synonym: "HH17" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 17 with or without anosmia" EXACT [DOID:0090079, MONDO:Lexical, OMIM:615266] synonym: "hypogonadotropic hypogonadism caused by mutation in SPRY4" EXACT [MONDO:design_pattern] synonym: "SPRY4 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090079 {source="MONDO:equivalentTo"} @@ -324566,9 +324626,9 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m subset: gard_rare {source="GARD:15929", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HH18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615267] -synonym: "hypogonadotropic hypogonadism 18 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615267] -synonym: "hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal recessive, Autosomal dominant, Digenic dominant" EXACT [OMIM:615267, OMIM:genemap2] +synonym: "HH18" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 18 with or without anosmia" EXACT [DOID:0090076, MONDO:Lexical, OMIM:615267] +synonym: "hypogonadotropic hypogonadism 18 with or without anosmia, Autosomal recessive, Autosomal dominant, Digenic dominant" EXACT [] synonym: "hypogonadotropic hypogonadism caused by mutation in IL17RD" EXACT [MONDO:design_pattern] synonym: "IL17RD hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090076 {source="MONDO:equivalentTo"} @@ -324593,13 +324653,13 @@ subset: gard_rare {source="GARD:15930", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ATP8A2 dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "CAMRQ4" RELATED DEPRECATED [MONDO:Lexical, OMIM:615268] -synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4" RELATED [OMIM:615268] -synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4" RELATED DEPRECATED [OMIM:615268] -synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4" EXACT [MONDO:Lexical, OMIM:615268] -synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4" EXACT [MONDORULE:1, OMIM:615268] -synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" EXACT DEPRECATED [MONDO:Lexical, OMIM:615268] -synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4" EXACT DEPRECATED [MONDORULE:1, OMIM:615268] +synonym: "CAMRQ4" RELATED DEPRECATED [MONDO:Lexical] +synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4" RELATED [] +synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4" RELATED DEPRECATED [] +synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4" EXACT [MONDO:Lexical] +synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4" EXACT [MONDORULE:1] +synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" EXACT DEPRECATED [DOID:0070559, MONDO:Lexical, OMIM:615268] +synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4" EXACT DEPRECATED [MONDORULE:1] synonym: "dysequilibrium syndrome caused by mutation in ATP8A2" EXACT [MONDO:design_pattern] xref: DOID:0070559 {source="MONDO:equivalentTo"} xref: GARD:15930 {source="MONDO:GARD"} @@ -324620,8 +324680,8 @@ subset: gard_rare {source="GARD:15931", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DUSP6 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HH19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615269] -synonym: "hypogonadotropic hypogonadism 19 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615269] +synonym: "HH19" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 19 with or without anosmia" EXACT [DOID:0090090, MONDO:Lexical, OMIM:615269] synonym: "hypogonadotropic hypogonadism caused by mutation in DUSP6" EXACT [MONDO:design_pattern] xref: DOID:0090090 {source="MONDO:equivalentTo"} xref: GARD:15931 {source="MONDO:GARD"} @@ -324643,8 +324703,8 @@ subset: gard_rare {source="GARD:15932", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FGF17 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HH20" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615270] -synonym: "hypogonadotropic hypogonadism 20 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615270] +synonym: "HH20" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 20 with or without anosmia" EXACT [DOID:0090082, MONDO:Lexical, OMIM:615270] synonym: "hypogonadotropic hypogonadism caused by mutation in FGF17" EXACT [MONDO:design_pattern] xref: DOID:0090082 {source="MONDO:equivalentTo"} xref: GARD:15932 {source="MONDO:GARD"} @@ -324666,9 +324726,9 @@ subset: gard_rare {source="GARD:15933", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FLRT3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HH21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615271] -synonym: "hypogonadotropic hypogonadism 21 with anosmia" EXACT [OMIM:615271, OMIM:genemap2] -synonym: "hypogonadotropic hypogonadism 21 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615271] +synonym: "HH21" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 21 with anosmia" EXACT [] +synonym: "hypogonadotropic hypogonadism 21 with or without anosmia" EXACT [DOID:0090093, MONDO:Lexical, OMIM:615271] synonym: "hypogonadotropic hypogonadism caused by mutation in FLRT3" EXACT [MONDO:design_pattern] xref: DOID:0090093 {source="MONDO:equivalentTo"} xref: GARD:15933 {source="MONDO:GARD"} @@ -324696,9 +324756,9 @@ synonym: "ERCC4 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/dise synonym: "Fanconi anaemia caused by mutation in ERCC4" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type Q" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in ERCC4" EXACT [MONDO:design_pattern] -synonym: "Fanconi anemia complementation group type Q" EXACT [DOID:0111093, MONDORULE:1] -synonym: "Fanconi anemia, complementation group Q" RELATED [MONDO:Lexical, OMIM:615272] -synonym: "Fanconi Anemia, complementation group type Q" EXACT [MONDORULE:1, OMIM:615272] +synonym: "Fanconi anemia complementation group type Q" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group Q" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type Q" EXACT [MONDORULE:1] synonym: "FANCQ" EXACT ABBREVIATION [DOID:0111093, MONDO:Lexical, OMIM:615272] xref: DOID:0111093 {source="MONDO:equivalentTo"} xref: GARD:15934 {source="MONDO:GARD"} @@ -324725,7 +324785,7 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 15, multiple types" RELATED [MONDO:Lexical, OMIM:615274] +synonym: "cataract 15, multiple types" RELATED [MONDO:Lexical] synonym: "CTRCT15" EXACT ABBREVIATION [DOID:0110251, MONDO:Lexical, OMIM:615274] synonym: "early-onset non-syndromic cataract caused by mutation in MIP" EXACT [MONDO:design_pattern] synonym: "MIP early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -324754,9 +324814,9 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 19" RELATED [MONDO:Lexical, OMIM:615277] -synonym: "cataract 19, multiple types" RELATED [OMIM:615277] -synonym: "cataract type 19" EXACT [MONDORULE:2, OMIM:615277] +synonym: "cataract 19" RELATED [MONDO:Lexical] +synonym: "cataract 19, multiple types" RELATED [] +synonym: "cataract type 19" EXACT [MONDORULE:2] synonym: "CTRCT19" EXACT ABBREVIATION [DOID:0110263, MONDO:Lexical, OMIM:615277] synonym: "early-onset non-syndromic cataract caused by mutation in LIM2" EXACT [MONDO:design_pattern] synonym: "LIM2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -324780,11 +324840,11 @@ def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a m subset: gard_rare {source="GARD:15935", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiofaciocutaneous syndrome 2" EXACT [MONDO:Lexical, OMIM:615278] +synonym: "cardiofaciocutaneous syndrome 2" EXACT [DOID:0111461, MONDO:Lexical, OMIM:615278] synonym: "cardiofaciocutaneous syndrome caused by mutation in KRAS" EXACT [] synonym: "cardiofaciocutaneous syndrome caused by mutation in kras" EXACT [MONDO:design_pattern] -synonym: "cardiofaciocutaneous syndrome type 2" EXACT [MONDORULE:1, OMIM:615278] -synonym: "CFC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615278] +synonym: "cardiofaciocutaneous syndrome type 2" EXACT [MONDORULE:1] +synonym: "CFC2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "KRAS cardiofaciocutaneous syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "kras cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern] xref: DOID:0111461 {source="MONDO:equivalentTo"} @@ -324805,10 +324865,10 @@ def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a m subset: gard_rare {source="GARD:15936", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiofaciocutaneous syndrome 3" EXACT [MONDO:Lexical, OMIM:615279] +synonym: "cardiofaciocutaneous syndrome 3" EXACT [DOID:0111462, MONDO:Lexical, OMIM:615279] synonym: "cardiofaciocutaneous syndrome caused by mutation in MAP2K1" EXACT [MONDO:design_pattern] -synonym: "cardiofaciocutaneous syndrome type 3" EXACT [MONDORULE:1, OMIM:615279] -synonym: "CFC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615279] +synonym: "cardiofaciocutaneous syndrome type 3" EXACT [MONDORULE:1] +synonym: "CFC3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MAP2K1 cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111462 {source="MONDO:equivalentTo"} xref: GARD:15936 {source="MONDO:GARD"} @@ -324828,10 +324888,10 @@ def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a m subset: gard_rare {source="GARD:15937", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiofaciocutaneous syndrome 4" EXACT [MONDO:Lexical, OMIM:615280] +synonym: "cardiofaciocutaneous syndrome 4" EXACT [DOID:0111463, MONDO:Lexical, OMIM:615280] synonym: "cardiofaciocutaneous syndrome caused by mutation in MAP2K2" EXACT [MONDO:design_pattern] -synonym: "cardiofaciocutaneous syndrome type 4" EXACT [MONDORULE:1, OMIM:615280] -synonym: "CFC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615280] +synonym: "cardiofaciocutaneous syndrome type 4" EXACT [MONDORULE:1] +synonym: "CFC4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MAP2K2 cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111463 {source="MONDO:equivalentTo"} xref: GARD:15937 {source="MONDO:GARD"} @@ -324853,9 +324913,9 @@ subset: ordo_disorder {source="Orphanet:363412"} subset: orphanet_rare {source="Orphanet:363412"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aspartyl-tRNA synthetase deficiency" RELATED [OMIM:615281] +synonym: "aspartyl-tRNA synthetase deficiency" RELATED [] synonym: "HBSL" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615281, Orphanet:363412] -synonym: "hypomyelination with brainstem and spinal cord involvement and leg spasticity" RELATED [MONDO:Lexical, OMIM:615281] +synonym: "hypomyelination with brainstem and spinal cord involvement and leg spasticity" RELATED [MONDO:Lexical] xref: GARD:17554 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:363412", source="Orphanet:363412/attributed", source="Orphanet:363412/ntbt"} xref: MEDGEN:1667792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -324872,9 +324932,9 @@ def: "Any complex cortical dysplasia with other brain malformations in which the subset: clingen {source="MONDO:CLINGEN"} synonym: "CDCBM2" EXACT ABBREVIATION [DOID:0090133, MONDO:Lexical, OMIM:615282] synonym: "complex cortical dysplasia with other brain malformations caused by mutation in KIF5C" EXACT [MONDO:design_pattern] -synonym: "complex cortical dysplasia with other brain malformations type 2" EXACT [DOID:0090133, MONDORULE:1] -synonym: "cortical dysplasia, complex, with other brain malformations 2" RELATED [MONDO:Lexical, OMIM:615282] -synonym: "cortical dysplasia, Complex, with Other brain malformations type 2" EXACT [MONDORULE:1, OMIM:615282] +synonym: "complex cortical dysplasia with other brain malformations type 2" EXACT [MONDORULE:1] +synonym: "cortical dysplasia, complex, with other brain malformations 2" RELATED [MONDO:Lexical] +synonym: "cortical dysplasia, Complex, with Other brain malformations type 2" EXACT [MONDORULE:1] synonym: "KIF5C complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090133 {source="MONDO:equivalentTo"} xref: MEDGEN:815343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -324900,7 +324960,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease with focally folded myelin" EXACT [Orphanet:363981] -synonym: "Charcot-Marie-Tooth disease, type 4B3" RELATED [MONDO:Lexical, OMIM:615284] +synonym: "Charcot-Marie-Tooth disease, type 4B3" RELATED [MONDO:Lexical] synonym: "CMT4B3" EXACT ABBREVIATION [DOID:0110194, MONDO:Lexical, OMIM:615284, Orphanet:363981] synonym: "SBF1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110194 {source="MONDO:equivalentTo"} @@ -324927,10 +324987,10 @@ subset: ordo_disorder {source="Orphanet:369852"} subset: orphanet_rare {source="Orphanet:369852"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXACT [Orphanet:369852] -synonym: "neutropenia, severe congenital, 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615285] -synonym: "SCN5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615285] -synonym: "vps45 deficiency" EXACT [Orphanet:369852] +synonym: "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXACT [DOID:0112132, Orphanet:369852] +synonym: "neutropenia, severe congenital, 5, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "SCN5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "vps45 deficiency" EXACT [DOID:0112132, Orphanet:369852] xref: DOID:0112132 {source="MONDO:equivalentTo"} xref: GARD:17585 {source="MONDO:GARD"} xref: ICD10CM:D70 {source="Orphanet:369852", source="Orphanet:369852/attributed", source="Orphanet:369852/ntbt"} @@ -324957,12 +325017,12 @@ subset: ordo_disorder {source="Orphanet:363528"} subset: orphanet_rare {source="Orphanet:363528"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, autosomal recessive 36" RELATED [MONDO:Lexical, OMIM:615286] -synonym: "intellectual disability, autosomal recessive type 36" EXACT [MONDORULE:2, OMIM:615286] -synonym: "mental retardation, autosomal recessive 36" RELATED DEPRECATED [MONDO:Lexical, OMIM:615286] -synonym: "mental retardation, autosomal recessive type 36" EXACT DEPRECATED [MONDORULE:2, OMIM:615286] -synonym: "MRT36" RELATED DEPRECATED [MONDO:Lexical, OMIM:615286] -synonym: "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies" EXACT [OMIM:615286, OMIM:genemap2] +synonym: "intellectual disability, autosomal recessive 36" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 36" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 36" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 36" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT36" RELATED DEPRECATED [MONDO:Lexical] +synonym: "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies" EXACT [DOID:0081099, OMIM:615286] xref: DOID:0081099 {source="MONDO:equivalentTo"} xref: GARD:17563 {source="MONDO:GARD"} xref: ICD10CM:H50.8 {source="Orphanet:363528/attributed", source="Orphanet:363528/ntbt", source="Orphanet:363528"} @@ -324988,9 +325048,9 @@ subset: gard_rare {source="GARD:15938", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDDGA13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615287] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13" RELATED [MONDO:Lexical, OMIM:615287] -synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related" RELATED [OMIM:615287] +synonym: "MDDGA13" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13" RELATED [MONDO:Lexical] +synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related" RELATED [] xref: DOID:0111238 {source="MONDO:equivalentTo"} xref: GARD:15938 {source="MONDO:GARD"} xref: MEDGEN:815372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325012,11 +325072,11 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:363454"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant spinal muscular atrophy, lower extremity-predominant 2" RELATED [GARD:0013222] -synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures" EXACT [Orphanet:363454] -synonym: "SMALED2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615290, Orphanet:363454] +synonym: "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures" EXACT [] +synonym: "SMALED2" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:363454] synonym: "spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant" RELATED [GARD:0013222] -synonym: "spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:615290] -synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" EXACT [OMIM:615290, OMIM:genemap2] +synonym: "spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant" RELATED [MONDO:Lexical] +synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" EXACT [] xref: DOID:0070349 {source="MONDO:equivalentTo"} xref: GARD:13222 {source="MONDO:GARD"} xref: ICD10CM:G12.1 {source="Orphanet:363454/attributed", source="Orphanet:363454/ntbt", source="Orphanet:363454"} @@ -325037,11 +325097,11 @@ def: "Any myofibromatosis in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:15939", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "IMF2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615293] +synonym: "IMF2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "myofibromatosis caused by mutation in NOTCH3" EXACT [MONDO:design_pattern] -synonym: "myofibromatosis, infantile 2" EXACT [OMIM:615293, OMIM:genemap2] +synonym: "myofibromatosis, infantile 2" EXACT [] synonym: "myofibromatosis, infantile, 2" EXACT [MONDO:Lexical, OMIM:615293] -synonym: "myofibromatosis, infantile, type 2" EXACT [MONDORULE:1, OMIM:615293] +synonym: "myofibromatosis, infantile, type 2" EXACT [MONDORULE:1] synonym: "NOTCH3 myofibromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15939 {source="MONDO:GARD"} xref: MEDGEN:815414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325062,13 +325122,13 @@ subset: gard_rare {source="GARD:15940", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD21" EXACT ABBREVIATION [DOID:0110596, MONDO:Lexical, OMIM:615294] -synonym: "ciliary dyskinesia, primary, 21" RELATED [MONDO:Lexical, OMIM:615294] -synonym: "ciliary dyskinesia, primary, 21, without situs inversus" RELATED [OMIM:615294] -synonym: "ciliary dyskinesia, primary, type 21" EXACT [MONDORULE:2, OMIM:615294] +synonym: "ciliary dyskinesia, primary, 21" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 21, without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 21" EXACT [MONDORULE:2] synonym: "DRC1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia 21 without situs inversus" EXACT [DOID:0110596] synonym: "primary ciliary dyskinesia caused by mutation in DRC1" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 21" EXACT [DOID:0110596, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 21" EXACT [MONDORULE:2] xref: DOID:0110596 {source="MONDO:equivalentTo"} xref: GARD:15940 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110596"} @@ -325089,8 +325149,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Adams-Oliver syndrome 4" EXACT [MONDO:Lexical, OMIM:615297] synonym: "Adams-Oliver syndrome caused by mutation in EOGT" EXACT [MONDO:design_pattern] -synonym: "Adams-Oliver syndrome type 4" EXACT [MONDORULE:1, OMIM:615297] -synonym: "AOS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615297] +synonym: "Adams-Oliver syndrome type 4" EXACT [MONDORULE:1] +synonym: "AOS4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "EOGT Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15941 {source="MONDO:GARD"} xref: MEDGEN:815422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325113,9 +325173,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GDF5 proximal symphalangism (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "proximal symphalangism (disease) caused by mutation in GDF5" EXACT [] -synonym: "SYM1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615298] +synonym: "SYM1B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "symphalangism, proximal, 1B" EXACT [MONDO:Lexical, OMIM:615298] -synonym: "symphalangism, proximal, type 1B" EXACT [MONDORULE:4, OMIM:615298] +synonym: "symphalangism, proximal, type 1B" EXACT [MONDORULE:4] xref: DOID:0080788 {source="MONDO:equivalentTo"} xref: GARD:15942 {source="MONDO:GARD"} xref: MEDGEN:815434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325137,8 +325197,8 @@ subset: rare synonym: "LARS2 Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Perrault syndrome 4" EXACT [MONDO:Lexical, OMIM:615300] synonym: "Perrault syndrome caused by mutation in LARS2" EXACT [MONDO:design_pattern] -synonym: "Perrault syndrome type 4" EXACT [MONDORULE:1, OMIM:615300] -synonym: "PRLTS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615300] +synonym: "Perrault syndrome type 4" EXACT [MONDORULE:1] +synonym: "PRLTS4" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15943 {source="MONDO:GARD"} xref: MEDGEN:815435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615300 {source="MONDO:equivalentTo"} @@ -325160,9 +325220,9 @@ subset: ordo_disorder {source="Orphanet:370091"} subset: orphanet_rare {source="Orphanet:370091"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "albinism, oculocutaneous, type V" RELATED [MONDO:Lexical, OMIM:615312] +synonym: "albinism, oculocutaneous, type V" RELATED [MONDO:Lexical] synonym: "OCA5" EXACT ABBREVIATION [DOID:0070099, MONDO:Lexical, OMIM:615312, Orphanet:370091] -synonym: "oculocutaneous albinism type V" RELATED [DOID:0070099] +synonym: "oculocutaneous albinism type V" RELATED [] xref: DOID:0070099 {source="MONDO:equivalentTo"} xref: GARD:17598 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="Orphanet:370091/attributed", source="Orphanet:370091/ntbt", source="Orphanet:370091"} @@ -325186,8 +325246,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "craniosynostosis 3" EXACT [MONDO:Lexical, OMIM:615314] synonym: "craniosynostosis caused by mutation in TCF12" EXACT [MONDO:design_pattern] -synonym: "craniosynostosis type 3" EXACT [MONDORULE:1, OMIM:615314] -synonym: "CRS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615314] +synonym: "craniosynostosis type 3" EXACT [MONDORULE:1] +synonym: "CRS3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TCF12 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "TCF12-related craniosynostosis" EXACT CLINGEN_LABEL [] xref: GARD:18047 {source="MONDO:GARD"} @@ -325223,10 +325283,10 @@ def: "Any Dowling-Degos disease in which the cause of the disease is a mutation subset: gard_rare {source="GARD:15944", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DDD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615327] +synonym: "DDD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Dowling-Degos disease 2" EXACT [MONDO:Lexical, OMIM:615327] synonym: "Dowling-Degos disease caused by mutation in POFUT1" EXACT [MONDO:design_pattern] -synonym: "Dowling-Degos disease type 2" EXACT [MONDORULE:1, OMIM:615327] +synonym: "Dowling-Degos disease type 2" EXACT [MONDORULE:1] synonym: "POFUT1 Dowling-Degos disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15944 {source="MONDO:GARD"} xref: MEDGEN:815477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325248,8 +325308,8 @@ subset: ordo_disorder {source="Orphanet:363523"} subset: orphanet_rare {source="Orphanet:363523"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SHAHEEN syndrome" RELATED [MONDO:Lexical, OMIM:615328] -synonym: "SHNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615328] +synonym: "SHAHEEN syndrome" RELATED [MONDO:Lexical] +synonym: "SHNS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17562 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:363523", source="Orphanet:363523/attributed", source="Orphanet:363523/ntbt"} xref: MEDGEN:815490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325273,11 +325333,11 @@ subset: orphanet_rare {source="Orphanet:363424"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57" EXACT [MONDO:design_pattern] -synonym: "IBA57 deficiency" EXACT [Orphanet:363424] +synonym: "IBA57 deficiency" EXACT [DOID:0080135, Orphanet:363424] synonym: "IBA57 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MMDS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615330] -synonym: "multiple mitochondrial dysfunctions syndrome 3" EXACT [MONDO:Lexical, OMIM:615330] -synonym: "multiple mitochondrial dysfunctions syndrome type 3" EXACT [DOID:0080135, MONDORULE:1, OMIM:615330] +synonym: "MMDS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "multiple mitochondrial dysfunctions syndrome 3" EXACT [DOID:0080135, MONDO:Lexical, OMIM:615330] +synonym: "multiple mitochondrial dysfunctions syndrome type 3" EXACT [MONDORULE:1, Orphanet:363424] xref: DOID:0080135 {source="MONDO:equivalentTo"} xref: GARD:17555 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:363424", source="Orphanet:363424/attributed", source="Orphanet:363424/ntbt"} @@ -325298,11 +325358,11 @@ def: "A developmental and epileptic encephalopathy characterized by seizure onse subset: gard_rare {source="GARD:15945", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE16" EXACT ABBREVIATION [OMIM:615338] -synonym: "developmental and epileptic encephalopathy 16" EXACT [OMIM:615338, OMIM:genemap2] -synonym: "EIEE16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615338] +synonym: "DEE16" EXACT ABBREVIATION [DOID:0080449, OMIM:615338] +synonym: "developmental and epileptic encephalopathy 16" EXACT [DOID:0080449, OMIM:615338] +synonym: "EIEE16" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 16" EXACT [MONDO:Lexical, OMIM:615338] -synonym: "epileptic encephalopathy, early infantile, type 16" EXACT [MONDORULE:2, OMIM:615338] +synonym: "epileptic encephalopathy, early infantile, type 16" EXACT [MONDORULE:2] xref: DOID:0080449 {source="MONDO:equivalentTo"} xref: GARD:15945 {source="MONDO:GARD"} xref: MEDGEN:815503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325322,10 +325382,10 @@ def: "Any primary pulmonary hypertension in which the cause of the disease is a subset: gard_rare {source="GARD:18394", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615342] +synonym: "PPH2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "primary pulmonary hypertension caused by mutation in SMAD9" EXACT [MONDO:design_pattern] synonym: "pulmonary hypertension, primary, 2" EXACT [MONDO:Lexical, OMIM:615342] -synonym: "pulmonary hypertension, primary, type 2" EXACT [MONDORULE:1, OMIM:615342] +synonym: "pulmonary hypertension, primary, type 2" EXACT [MONDORULE:1] synonym: "SMAD9 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18394 {source="MONDO:GARD"} xref: MEDGEN:854709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325345,10 +325405,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CAV1 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PPH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615343] +synonym: "PPH3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "primary pulmonary hypertension caused by mutation in CAV1" EXACT [MONDO:design_pattern] synonym: "pulmonary hypertension, primary, 3" EXACT [MONDO:Lexical, OMIM:615343] -synonym: "pulmonary hypertension, primary, type 3" EXACT [MONDORULE:1, OMIM:615343] +synonym: "pulmonary hypertension, primary, type 3" EXACT [MONDORULE:1] xref: MEDGEN:815522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615343 {source="MONDO:equivalentTo"} xref: Orphanet:422 {source="OMIM:615343"} @@ -325366,10 +325426,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "KCNK3 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PPH4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615344] +synonym: "PPH4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "primary pulmonary hypertension caused by mutation in KCNK3" EXACT [MONDO:design_pattern] synonym: "pulmonary hypertension, primary, 4" EXACT [MONDO:Lexical, OMIM:615344] -synonym: "pulmonary hypertension, primary, type 4" EXACT [MONDORULE:1, OMIM:615344] +synonym: "pulmonary hypertension, primary, type 4" EXACT [MONDORULE:1] xref: MEDGEN:815528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615344 {source="MONDO:equivalentTo"} xref: Orphanet:422 {source="OMIM:615344"} @@ -325387,10 +325447,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "central precocious puberty caused by mutation in MKRN3" EXACT [MONDO:design_pattern] -synonym: "CPPB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615346] +synonym: "CPPB2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MKRN3 central precocious puberty" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "precocious puberty, central, 2" EXACT [MONDO:Lexical, OMIM:615346] -synonym: "precocious puberty, central, type 2" EXACT [MONDORULE:1, OMIM:615346] +synonym: "precocious puberty, central, type 2" EXACT [MONDORULE:1] xref: DOID:0112309 {source="MONDO:equivalentTo"} xref: MEDGEN:815529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615346 {source="MONDO:equivalentTo"} @@ -325410,11 +325470,11 @@ subset: gard_rare {source="GARD:15946", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "KLHL40 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "NEM8" EXACT ABBREVIATION [DOID:0110930, MONDO:Lexical, OMIM:615348] -synonym: "nemaline myopathy 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615348] +synonym: "NEM8" EXACT ABBREVIATION [DOID:0110930, MONDO:Lexical, NCIT:C129871, OMIM:615348] +synonym: "nemaline myopathy 8" EXACT CLINGEN_LABEL [DOID:0110930, MONDO:Lexical, NCIT:C129871, OMIM:615348] synonym: "nemaline myopathy 8, autosomal recessive" EXACT [DOID:0110930] synonym: "nemaline myopathy caused by mutation in KLHL40" EXACT [MONDO:design_pattern] -synonym: "nemaline myopathy type 8" EXACT [DOID:0110930, MONDORULE:1, OMIM:615348] +synonym: "nemaline myopathy type 8" EXACT [MONDORULE:1] xref: DOID:0110930 {source="MONDO:equivalentTo"} xref: GARD:15946 {source="MONDO:GARD"} xref: MEDGEN:815539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325442,12 +325502,12 @@ synonym: "B3GALT6 Ehlers-Danlos syndrome progeroid type" EXACT [MONDO:design_pat synonym: "B3GALT6-related spEDS" EXACT [Orphanet:536467] synonym: "B3GALT6-related spondylodysplastic EDS" EXACT [Orphanet:536467] synonym: "Beta3GalT6-deficient EDS" EXACT [Orphanet:536467] -synonym: "EDSP2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615349] +synonym: "EDSP2" EXACT ABBREVIATION [MONDO:Lexical] synonym: "EDSSPD2" EXACT ABBREVIATION [OMIM:615349] synonym: "Ehlers-Danlos syndrome progeroid type 2" EXACT [Orphanet:536467] synonym: "Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6" EXACT [MONDO:design_pattern] -synonym: "Ehlers-Danlos syndrome, progeroid type, 2" EXACT [MONDO:Lexical, OMIM:615349] -synonym: "Ehlers-Danlos syndrome, progeroid type, 2, formerly" RELATED [OMIM:615349] +synonym: "Ehlers-Danlos syndrome, progeroid type, 2" EXACT [MONDO:Lexical] +synonym: "Ehlers-Danlos syndrome, progeroid type, 2, formerly" RELATED [] synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 2" EXACT [OMIM:615349] synonym: "spEDS-B3GALT6" EXACT [Orphanet:536467] xref: GARD:15947 {source="MONDO:GARD"} @@ -325469,10 +325529,10 @@ subset: gard_rare {source="GARD:15948", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDDGA14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615350] +synonym: "MDDGA14" RELATED ABBREVIATION [MONDO:Lexical] synonym: "muscle-eye-brain-GMPPB related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14" RELATED [MONDO:Lexical, OMIM:615350] -synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related" RELATED [OMIM:615350] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14" RELATED [MONDO:Lexical] +synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related" RELATED [] xref: DOID:0111233 {source="MONDO:equivalentTo"} xref: GARD:15948 {source="MONDO:GARD"} xref: MEDGEN:815546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325493,10 +325553,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital muscular dystrophy-GMPPB related" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] -synonym: "MDDGB14" RELATED DEPRECATED [MONDO:Lexical, OMIM:615351] -synonym: "muscular dystrophy, congenital, GMPPB-related" RELATED [OMIM:615351] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14" RELATED [MONDO:Lexical, OMIM:615351] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14" RELATED DEPRECATED [MONDO:Lexical, OMIM:615351] +synonym: "MDDGB14" RELATED DEPRECATED [MONDO:Lexical] +synonym: "muscular dystrophy, congenital, GMPPB-related" RELATED [] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0112377 {source="MONDO:equivalentTo"} xref: MEDGEN:815551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615351 {source="MONDO:equivalentTo"} @@ -325526,11 +325586,11 @@ synonym: "LGMD2T" EXACT ABBREVIATION [DOID:0110294, Orphanet:363623] synonym: "limb-girdle muscular dystrophy type 2T" RELATED [GARD:0012544] synonym: "MDDGC14" EXACT ABBREVIATION [DOID:0110294, MONDO:Lexical, OMIM:615352] synonym: "muscular dystrophy limb-girdle type 2T" EXACT [DOID:0110294] -synonym: "muscular dystrophy, limb-girdle, type 2T" RELATED [OMIM:615352] +synonym: "muscular dystrophy, limb-girdle, type 2T" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14" EXACT [DOID:0110294] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14" RELATED [MONDO:Lexical, OMIM:615352] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14" RELATED [MONDO:Lexical] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" EXACT [DOID:0110294] -synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related" RELATED [OMIM:615352] +synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related" RELATED [] xref: DOID:0110294 {source="MONDO:equivalentTo"} xref: GARD:12544 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="DOID:0110294"} @@ -325555,10 +325615,10 @@ def: "Any Noonan syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:15949", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Noonan syndrome 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615355] +synonym: "Noonan syndrome 8" EXACT CLINGEN_LABEL [DOID:0060586, MONDO:Lexical, NCIT:C176936, OMIM:615355] synonym: "Noonan syndrome caused by mutation in RIT1" EXACT [MONDO:design_pattern] -synonym: "Noonan syndrome type 8" EXACT [DOID:0060586, MONDORULE:1, OMIM:615355] -synonym: "NS8" EXACT ABBREVIATION [DOID:0060586, MONDO:Lexical, OMIM:615355] +synonym: "Noonan syndrome type 8" EXACT [MONDORULE:1] +synonym: "NS8" EXACT ABBREVIATION [DOID:0060586, MONDO:Lexical, NCIT:C176936, OMIM:615355] synonym: "RIT1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060586 {source="MONDO:equivalentTo"} xref: GARD:15949 {source="MONDO:GARD"} @@ -325583,10 +325643,10 @@ subset: orphanet_rare {source="Orphanet:369840"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive limb-girdle muscular dystrophy type 2S" EXACT [Orphanet:369840] -synonym: "LGMD2S" EXACT ABBREVIATION [DOID:0110287, MONDO:Lexical, OMIM:615356, Orphanet:369840] +synonym: "autosomal recessive limb-girdle muscular dystrophy type 2S" EXACT [DOID:0110287, Orphanet:369840] +synonym: "LGMD2S" EXACT ABBREVIATION [DOID:0110287, MONDO:Lexical, Orphanet:369840] synonym: "limb-girdle muscular dystrophy type 2S" RELATED [GARD:0012543] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 18" EXACT [OMIM:615356, OMIM:genemap2] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 18" EXACT [OMIM:615356] synonym: "muscular dystrophy, limb-girdle, type 2S" EXACT [DOID:0110287, MONDO:Lexical, OMIM:615356] synonym: "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110287 {source="MONDO:equivalentTo"} @@ -325613,9 +325673,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GDF6 Leber congenital amaurosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA17" EXACT ABBREVIATION [DOID:0110217, MONDO:Lexical, OMIM:615360] -synonym: "Leber congenital amaurosis 17" EXACT [MONDO:Lexical, OMIM:615360] +synonym: "Leber congenital amaurosis 17" EXACT [DOID:0110217, MONDO:Lexical, OMIM:615360] synonym: "Leber congenital amaurosis caused by mutation in GDF6" EXACT [MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 17" EXACT [DOID:0110217, MONDORULE:2, OMIM:615360] +synonym: "Leber congenital amaurosis type 17" EXACT [MONDORULE:2] xref: DOID:0110217 {source="MONDO:equivalentTo"} xref: GARD:15950 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="DOID:0110217", source="MONDO:relatedTo"} @@ -325635,10 +325695,10 @@ name: autosomal dominant hypocalcemia 2 def: "An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13." [DOID:0090108] subset: gard_rare {source="GARD:15951", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant hypocalcemia type 2" EXACT [DOID:0090108, MONDORULE:1] +synonym: "autosomal dominant hypocalcemia type 2" EXACT [MONDORULE:1] synonym: "HYPOC2" EXACT ABBREVIATION [DOID:0090108, MONDO:Lexical, OMIM:615361] -synonym: "hypocalcemia, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:615361] -synonym: "hypocalcemia, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:615361] +synonym: "hypocalcemia, autosomal dominant 2" RELATED [MONDO:Lexical] +synonym: "hypocalcemia, autosomal dominant type 2" EXACT [MONDORULE:1] xref: DOID:0090108 {source="MONDO:equivalentTo"} xref: GARD:15951 {source="MONDO:GARD"} xref: MEDGEN:815573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325660,16 +325720,16 @@ subset: ordo_etiological_subtype {source="Orphanet:352709"} subset: orphanet_rare {source="Orphanet:352709"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ceroid lipofuscinosis, neuronal, 13" RELATED [MONDO:Lexical, OMIM:615362] -synonym: "ceroid lipofuscinosis, neuronal, 13 (Kufs type)" EXACT [OMIM:615362, OMIM:genemap2] -synonym: "ceroid lipofuscinosis, neuronal, 13, Kufs type" RELATED [OMIM:615362] -synonym: "ceroid lipofuscinosis, neuronal, type 13" EXACT [MONDORULE:2, OMIM:615362] +synonym: "ceroid lipofuscinosis, neuronal, 13" RELATED [MONDO:Lexical] +synonym: "ceroid lipofuscinosis, neuronal, 13 (Kufs type)" EXACT [OMIM:615362] +synonym: "ceroid lipofuscinosis, neuronal, 13, Kufs type" RELATED [] +synonym: "ceroid lipofuscinosis, neuronal, type 13" EXACT [MONDORULE:2] synonym: "CLN13" EXACT ABBREVIATION [DOID:0110727, MONDO:Lexical, OMIM:615362] -synonym: "CLN13 disease" RELATED [Orphanet:352709] +synonym: "CLN13 disease" RELATED [] synonym: "CTSF neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT [DOID:0110727] synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSF" EXACT [MONDO:design_pattern] -synonym: "neuronal ceroid lipofuscinosis type 13" EXACT [DOID:0110727, MONDORULE:2] +synonym: "neuronal ceroid lipofuscinosis type 13" EXACT [MONDORULE:2] xref: DOID:0110727 {source="MONDO:equivalentTo"} xref: GARD:17527 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="Orphanet:352709/attributed", source="Orphanet:352709/ntbt", source="Orphanet:352709", source="DOID:0110727"} @@ -325694,9 +325754,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:785"} subset: orphanet_rare {source="Orphanet:785"} subset: rare -synonym: "estrogen insensitivity" RELATED [OMIM:615363] -synonym: "estrogen resistance" RELATED [MONDO:Lexical, OMIM:615363] -synonym: "ESTRR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615363] +synonym: "estrogen insensitivity" RELATED [] +synonym: "estrogen resistance" RELATED [MONDO:Lexical] +synonym: "ESTRR" RELATED ABBREVIATION [MONDO:Lexical] synonym: "oestrogen insensitivity" RELATED OMO:0003005 [] synonym: "oestrogen resistance" RELATED OMO:0003005 [] xref: GARD:16548 {source="MONDO:GARD"} @@ -325724,10 +325784,10 @@ subset: ordo_disorder {source="Orphanet:363409"} subset: orphanet_rare {source="Orphanet:363409"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LCCS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615368] -synonym: "lethal congenital contracture syndrome 5" RELATED [MONDO:Lexical, OMIM:615368] -synonym: "lethal congenital contracture syndrome type 5" EXACT [MONDORULE:1, OMIM:615368] -synonym: "myopathy, centronuclear, lethal, autosomal recessive" RELATED [OMIM:615368] +synonym: "LCCS5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lethal congenital contracture syndrome 5" RELATED [MONDO:Lexical] +synonym: "lethal congenital contracture syndrome type 5" EXACT [MONDORULE:1, Orphanet:363409] +synonym: "myopathy, centronuclear, lethal, autosomal recessive" RELATED [] xref: GARD:17553 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:363409/attributed", source="Orphanet:363409/ntbt", source="Orphanet:363409"} xref: MEDGEN:1631944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325748,12 +325808,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CHCHD10-related disorders" RELATED [GARD:0013197] synonym: "CHD2 myoclonic encephalopathy" RELATED [GARD:0013197] -synonym: "childhood onset epileptic encephalopathy" EXACT CLINGEN_LABEL [DOID:0060475] +synonym: "childhood onset epileptic encephalopathy" EXACT CLINGEN_LABEL [] synonym: "childhood-onset epileptic encephalopathy" RELATED [GARD:0013197] synonym: "DEE94" EXACT ABBREVIATION [OMIM:615369] -synonym: "developmental and epileptic encephalopathy 94" EXACT [OMIM:615369] -synonym: "EEOC" EXACT ABBREVIATION [DOID:0060475, MONDO:Lexical, OMIM:615369] -synonym: "epileptic encephalopathy, childhood-onset" RELATED [MONDO:Lexical, OMIM:615369] +synonym: "developmental and epileptic encephalopathy 94" EXACT [DOID:0081325, OMIM:615369] +synonym: "EEOC" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "epileptic encephalopathy, childhood-onset" RELATED [MONDO:Lexical] xref: DOID:0081325 {source="MONDO:equivalentTo"} xref: GARD:13197 {source="MONDO:GARD"} xref: MEDGEN:815608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325771,9 +325831,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014151 name: pulmonary hypertension, neonatal, susceptibility to subset: predisposition -synonym: "PHN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615371] +synonym: "PHN" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pulmonary hypertension, neonatal, susceptibility to" EXACT [MONDO:Lexical, OMIM:615371] -synonym: "susceptibility to neonatal pulmonary hypertension" RELATED [OMIM:615371] +synonym: "susceptibility to neonatal pulmonary hypertension" RELATED [] xref: MEDGEN:811528 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615371 {source="MONDO:equivalentTo"} xref: UMLS:C3714958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:811528"} @@ -325790,11 +325850,11 @@ comment: This appears in the series 115200 because of an included entity. {sourc subset: gard_rare {source="GARD:15952", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1Ll" RELATED [OMIM:615373] +synonym: "cardiomyopathy, dilated, 1Ll" RELATED [] synonym: "familial isolated dilated cardiomyopathy caused by mutation in PRDM16" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction 8" EXACT [MONDO:Lexical, OMIM:615373] -synonym: "left ventricular noncompaction type 8" EXACT [MONDORULE:1, OMIM:615373] -synonym: "LVNC8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615373] +synonym: "left ventricular noncompaction type 8" EXACT [MONDORULE:1] +synonym: "LVNC8" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PRDM16 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081157 {source="MONDO:equivalentTo"} xref: GARD:15952 {source="MONDO:GARD"} @@ -325812,9 +325872,9 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:15953", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 18" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615374] +synonym: "cone-rod dystrophy 18" EXACT CLINGEN_LABEL [DOID:0111024, MONDO:Lexical, OMIM:615374] synonym: "cone-rod dystrophy caused by mutation in RAB28" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 18" EXACT [DOID:0111024, MONDORULE:2, OMIM:615374] +synonym: "cone-rod dystrophy type 18" EXACT [MONDORULE:2] synonym: "CORD18" EXACT ABBREVIATION [DOID:0111024, MONDO:Lexical, OMIM:615374] synonym: "RAB28 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111024 {source="MONDO:equivalentTo"} @@ -325840,16 +325900,16 @@ subset: ordo_disorder {source="Orphanet:369867"} subset: orphanet_rare {source="Orphanet:369867"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110198] +synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110198, Orphanet:369867] synonym: "Charcot-Marie-Tooth disease caused by mutation in PLEKHG5" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease recessive intermediate type C" EXACT [DOID:0110198, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, recessive intermediate C" RELATED [MONDO:Lexical, OMIM:615376] -synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type C" EXACT [MONDORULE:1, OMIM:615376] -synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate C" RELATED [OMIM:615376] +synonym: "Charcot-Marie-Tooth disease recessive intermediate type C" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, recessive intermediate C" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type C" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate C" RELATED [] synonym: "CMTRIC" EXACT ABBREVIATION [DOID:0110198, MONDO:Lexical, OMIM:615376] synonym: "PLEKHG5 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RI-CMT type C" EXACT [DOID:0110198, Orphanet:369867] -synonym: "RI-CMTC" EXACT [DOID:0110198] +synonym: "RI-CMTC" EXACT ABBREVIATION [DOID:0110198] xref: DOID:0110198 {source="MONDO:equivalentTo"} xref: GARD:17587 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:369867/attributed", source="Orphanet:369867/ntbt", source="Orphanet:369867", source="DOID:0110198"} @@ -325869,9 +325929,9 @@ name: atrial fibrillation, familial, 13 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15954", source="MONDO:GARD"} subset: rare -synonym: "ATFB13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615377] +synonym: "ATFB13" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrial fibrillation, familial, 13" EXACT [MONDO:Lexical, OMIM:615377] -synonym: "atrial fibrillation, familial, type 13" EXACT [MONDORULE:2, OMIM:615377] +synonym: "atrial fibrillation, familial, type 13" EXACT [MONDORULE:2] synonym: "familial atrial fibrillation caused by mutation in SCN1B" EXACT [MONDO:design_pattern] synonym: "SCN1B familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15954 {source="MONDO:GARD"} @@ -325890,9 +325950,9 @@ name: atrial fibrillation, familial, 14 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15955", source="MONDO:GARD"} subset: rare -synonym: "ATFB14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615378] +synonym: "ATFB14" RELATED ABBREVIATION [MONDO:Lexical] synonym: "atrial fibrillation, familial, 14" EXACT [MONDO:Lexical, OMIM:615378] -synonym: "atrial fibrillation, familial, type 14" EXACT [MONDORULE:2, OMIM:615378] +synonym: "atrial fibrillation, familial, type 14" EXACT [MONDORULE:2] synonym: "familial atrial fibrillation caused by mutation in SCN2B" EXACT [MONDO:design_pattern] synonym: "SCN2B familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15955 {source="MONDO:GARD"} @@ -325915,10 +325975,10 @@ subset: orphanet_rare {source="Orphanet:363649"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mandibular hypoplasia, deafness, progeroid features" RELATED [GARD:0010989] -synonym: "mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" RELATED [MONDO:Lexical, OMIM:615381] +synonym: "mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" RELATED [MONDO:Lexical] synonym: "mandibular hypoplasia-hearing loss-progeroid syndrome" EXACT [Orphanet:363649] synonym: "MDP syndrome" EXACT [Orphanet:363649] -synonym: "MDPL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615381] +synonym: "MDPL" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:10989 {source="MONDO:GARD"} xref: ICD10CM:E34.8 {source="Orphanet:363649/attributed", source="Orphanet:363649/ntbt", source="Orphanet:363649"} xref: MEDGEN:811623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -325940,12 +326000,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ANKS6 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "autosomal recessive infantile nephronophthisis" RELATED [Orphanet:93591] -synonym: "autosomal recessive infantile NPHP" RELATED [Orphanet:93591] -synonym: "infantile nephronophthisis" RELATED [Orphanet:93591] +synonym: "autosomal recessive infantile nephronophthisis" RELATED [] +synonym: "autosomal recessive infantile NPHP" RELATED [] +synonym: "infantile nephronophthisis" RELATED [] synonym: "nephronophthisis (disease) caused by mutation in ANKS6" EXACT [] -synonym: "nephronophthisis 16" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615382] -synonym: "nephronophthisis type 16" EXACT [DOID:0111124, MONDORULE:2, OMIM:615382] +synonym: "nephronophthisis 16" EXACT CLINGEN_LABEL [DOID:0111124, MONDO:Lexical, OMIM:615382] +synonym: "nephronophthisis type 16" EXACT [MONDORULE:2] synonym: "NPHP16" EXACT ABBREVIATION [DOID:0111124, MONDO:Lexical, OMIM:615382] xref: DOID:0111124 {source="MONDO:equivalentTo"} xref: GARD:18183 {source="MONDO:GARD"} @@ -325973,19 +326033,19 @@ subset: ordo_disorder {source="Orphanet:352403"} subset: orphanet_rare {source="Orphanet:352403"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Ataxie spinocérébelleuse à début infantile avec retard psychomoteur" EXACT [Orphanet:352403] +synonym: "Ataxie spinocérébelleuse à début infantile avec retard psychomoteur" EXACT [] synonym: "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive cerebellar ataxia-cognitive defect syndrome" EXACT [Orphanet:352403] -synonym: "autosomal recessive spinocerebellar ataxia type 14" EXACT [DOID:0080058, MONDORULE:2, Orphanet:352403] -synonym: "cerebellar ataxia, autosomal recessive, spectrin-associated, 1" RELATED [OMIM:615386] +synonym: "autosomal recessive cerebellar ataxia-cognitive defect syndrome" EXACT [] +synonym: "autosomal recessive spinocerebellar ataxia type 14" EXACT [MONDORULE:2, Orphanet:352403] +synonym: "cerebellar ataxia, autosomal recessive, spectrin-associated, 1" RELATED [] synonym: "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome" EXACT [Orphanet:352403] -synonym: "SCAR14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615386, Orphanet:352403] +synonym: "SCAR14" EXACT ABBREVIATION [DOID:0080058, MONDO:Lexical, OMIM:615386, Orphanet:352403] synonym: "SPARCA" EXACT ABBREVIATION [Orphanet:352403] synonym: "SPARCA1" EXACT ABBREVIATION [Orphanet:352403] -synonym: "spectrin-associated autosomal recessive cerebellar ataxia" RELATED [Orphanet:352403] +synonym: "spectrin-associated autosomal recessive cerebellar ataxia" RELATED [] synonym: "spectrin-associated autosomal recessive cerebellar ataxia type 1" EXACT [Orphanet:352403] -synonym: "spinocerebellar ataxia, autosomal recessive 14" RELATED [MONDO:Lexical, OMIM:615386] -synonym: "spinocerebellar ataxia, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:615386] +synonym: "spinocerebellar ataxia, autosomal recessive 14" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 14" EXACT [MONDORULE:2] synonym: "SPTBN2 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080058 {source="MONDO:equivalentTo"} xref: GARD:17516 {source="MONDO:GARD"} @@ -326012,11 +326072,11 @@ subset: orphanet_rare {source="Orphanet:397959"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "IMD7" EXACT ABBREVIATION [DOID:0111977, OMIM:615387] -synonym: "immunodeficiency 7" RELATED [OMIM:615387] -synonym: "immunodeficiency 7, TCR-alpha/beta deficient" EXACT [DOID:0111977, OMIM:615387] -synonym: "T-cell receptor-ALPHA/BETA deficiency" RELATED [OMIM:615387] +synonym: "immunodeficiency 7" RELATED [] +synonym: "immunodeficiency 7, TCR-alpha/beta deficient" EXACT [DOID:0111977] +synonym: "T-cell receptor-ALPHA/BETA deficiency" RELATED [] synonym: "TCR-alpha-beta+ T-cell deficiency" EXACT [Orphanet:397959] -synonym: "TCR-Alpha/Beta deficiency" RELATED [OMIM:615387] +synonym: "TCR-Alpha/Beta deficiency" RELATED [] xref: DOID:0111977 {source="MONDO:equivalentTo"} xref: GARD:17646 {source="MONDO:GARD"} xref: ICD10CM:D84.8 {source="Orphanet:397959/attributed", source="Orphanet:397959/ntbt", source="Orphanet:397959"} @@ -326054,10 +326114,10 @@ subset: orphanet_rare {source="Orphanet:352563"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "combined oxidative phosphorylation defect type 16" EXACT [Orphanet:352563] -synonym: "combined oxidative phosphorylation deficiency 16" RELATED [MONDO:Lexical, OMIM:615395] +synonym: "combined oxidative phosphorylation deficiency 16" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPL44" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 16" EXACT [MONDORULE:2, OMIM:615395] -synonym: "COXPD16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615395, Orphanet:352563] +synonym: "combined oxidative phosphorylation deficiency type 16" EXACT [MONDORULE:2] +synonym: "COXPD16" EXACT ABBREVIATION [DOID:0111469, MONDO:Lexical, OMIM:615395, Orphanet:352563] synonym: "MRPL44 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111469 {source="MONDO:equivalentTo"} xref: GARD:12892 {source="MONDO:GARD"} @@ -326079,11 +326139,11 @@ def: "Any left ventricular noncompaction in which the cause of the disease is a subset: gard_rare {source="GARD:15956", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1Mm" RELATED [OMIM:615396] +synonym: "cardiomyopathy, dilated, 1Mm" RELATED [] synonym: "left ventricular noncompaction 10" EXACT [MONDO:Lexical, OMIM:615396] synonym: "left ventricular noncompaction caused by mutation in MYBPC3" EXACT [MONDO:design_pattern] -synonym: "left ventricular noncompaction type 10" EXACT [MONDORULE:2, OMIM:615396] -synonym: "LVNC10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615396] +synonym: "left ventricular noncompaction type 10" EXACT [MONDORULE:2] +synonym: "LVNC10" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MYBPC3 left ventricular noncompaction" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15956 {source="MONDO:GARD"} xref: MEDGEN:811617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326102,10 +326162,10 @@ name: Meckel syndrome, type 11 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:15957", source="MONDO:GARD"} subset: rare -synonym: "meckel syndrome 11" EXACT [OMIM:615397, OMIM:genemap2] +synonym: "meckel syndrome 11" EXACT [] synonym: "Meckel syndrome caused by mutation in TMEM231" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 11" EXACT [MONDO:Lexical, OMIM:615397] -synonym: "MKS11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615397] +synonym: "MKS11" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TMEM231 Meckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15957 {source="MONDO:GARD"} xref: MEDGEN:815682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326130,18 +326190,18 @@ subset: orphanet_rare {source="Orphanet:369837"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital disorder of glycosylation due to PIGT deficiency" EXACT [Orphanet:369837] -synonym: "glycosylphosphatidylinositol biosynthesis defect 7" RELATED [OMIM:615398] -synonym: "intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome" RELATED [Orphanet:369837] -synonym: "LFSS" EXACT ABBREVIATION [OMIM:603530] -synonym: "light fixation seizure syndrome" EXACT [OMIM:603530] -synonym: "M syndrome" RELATED [OMIM:603530] +synonym: "glycosylphosphatidylinositol biosynthesis defect 7" RELATED [] +synonym: "intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome" RELATED [] +synonym: "LFSS" EXACT ABBREVIATION [] +synonym: "light fixation seizure syndrome" EXACT [DOID:0080140] +synonym: "M syndrome" RELATED [] synonym: "MCAHS type 3" EXACT [Orphanet:369837] -synonym: "MCAHS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615398] -synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 3" EXACT [MONDO:Lexical, OMIM:615398] -synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 3" EXACT [DOID:0080140, MONDORULE:1, OMIM:615398] +synonym: "MCAHS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 3" EXACT [DOID:0080140, MONDO:Lexical, OMIM:615398] +synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 3" EXACT [MONDORULE:1, Orphanet:369837] synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT" EXACT [MONDO:design_pattern] synonym: "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PIGT-CDG" EXACT [Orphanet:369837] +synonym: "PIGT-CDG" EXACT ABBREVIATION [Orphanet:369837] xref: DOID:0080140 {source="MONDO:equivalentTo"} xref: GARD:17584 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:369837", source="Orphanet:369837/attributed", source="Orphanet:369837/ntbt"} @@ -326173,11 +326233,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "paroxysmal nocturnal hemoglobinuria 2" EXACT [MONDO:Lexical, OMIM:615399] -synonym: "paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation" EXACT [OMIM:615399, OMIM:genemap2] +synonym: "paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutation" EXACT [] synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT" EXACT [MONDO:design_pattern] -synonym: "paroxysmal nocturnal hemoglobinuria type 2" EXACT [MONDORULE:1, OMIM:615399] +synonym: "paroxysmal nocturnal hemoglobinuria type 2" EXACT [MONDORULE:1] synonym: "PIGT paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PNH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615399] +synonym: "PNH2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15958 {source="MONDO:GARD"} xref: MEDGEN:815699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615399 {source="MONDO:equivalentTo"} @@ -326197,13 +326257,13 @@ subset: gard_rare {source="GARD:18086", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CNTN2 epilepsy, familial adult myoclonic" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "cortical myoclonic tremor with epilepsy, familial, 5" RELATED [OMIM:615400] +synonym: "cortical myoclonic tremor with epilepsy, familial, 5" RELATED [] synonym: "epilepsy, familial adult myoclonic caused by mutation in CNTN2" EXACT [MONDO:design_pattern] -synonym: "epilepsy, familial ADULT myoclonic, 5" RELATED [OMIM:615400] -synonym: "epilepsy, familial adult myoclonic, 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615400] -synonym: "epilepsy, familial adult myoclonic, type 5" EXACT [MONDORULE:1, OMIM:615400] -synonym: "epilepsy, myoclonic, familial adult, 5" EXACT [OMIM:615400, OMIM:genemap2] -synonym: "FAME5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615400] +synonym: "epilepsy, familial ADULT myoclonic, 5" RELATED [] +synonym: "epilepsy, familial adult myoclonic, 5" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "epilepsy, familial adult myoclonic, type 5" EXACT [MONDORULE:1] +synonym: "epilepsy, myoclonic, familial adult, 5" EXACT [] +synonym: "FAME5" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111691 {source="MONDO:equivalentTo"} xref: GARD:18086 {source="MONDO:GARD"} xref: MEDGEN:815704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326227,13 +326287,13 @@ subset: ordo_disorder {source="Orphanet:228003"} subset: orphanet_rare {source="Orphanet:228003"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "coronin-1A deficiency" EXACT [MONDO:0000579] -synonym: "IMD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615401] -synonym: "immunodeficiency 8" RELATED [MONDO:Lexical, OMIM:615401] -synonym: "immunodeficiency type 8" EXACT [MONDORULE:1, OMIM:615401] +synonym: "coronin-1A deficiency" EXACT [DOID:0060019, MONDO:0000579] +synonym: "IMD8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 8" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 8" EXACT [MONDORULE:1] synonym: "SCID due to CORO1A deficiency" EXACT [Orphanet:228003] synonym: "SCID due to coronin-1A deficiency" EXACT [Orphanet:228003] -synonym: "severe combined immunodeficiency due to CORO1A deficiency" EXACT CLINGEN_LABEL [] +synonym: "severe combined immunodeficiency due to CORO1A deficiency" EXACT CLINGEN_LABEL [icd11.foundation:575769539, Orphanet:228003] synonym: "severe combined immunodeficiency due to coronin-1A deficiency" EXACT [Orphanet:228003] xref: DOID:0060019 {source="MONDO:equivalentTo"} xref: GARD:17144 {source="MONDO:GARD"} @@ -326255,10 +326315,10 @@ def: "Any dyschromatosis universalis hereditaria in which the cause of the disea subset: gard_rare {source="GARD:15959", source="MONDO:GARD"} subset: rare synonym: "ABCB6 dyschromatosis universalis hereditaria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DUH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615402] +synonym: "DUH3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "dyschromatosis universalis hereditaria 3" EXACT [MONDO:Lexical, OMIM:615402] synonym: "dyschromatosis universalis hereditaria caused by mutation in ABCB6" EXACT [MONDO:design_pattern] -synonym: "dyschromatosis universalis hereditaria type 3" EXACT [MONDORULE:1, OMIM:615402] +synonym: "dyschromatosis universalis hereditaria type 3" EXACT [MONDORULE:1] xref: GARD:15959 {source="MONDO:GARD"} xref: MEDGEN:815724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615402 {source="MONDO:equivalentTo"} @@ -326275,9 +326335,9 @@ name: complex cortical dysplasia with other brain malformations 3 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene." [MONDO:patterns/disease_series_by_gene] synonym: "CDCBM3" EXACT ABBREVIATION [DOID:0090134, MONDO:Lexical, OMIM:615411] synonym: "complex cortical dysplasia with other brain malformations caused by mutation in KIF2A" EXACT [MONDO:design_pattern] -synonym: "complex cortical dysplasia with other brain malformations type 3" EXACT [DOID:0090134, MONDORULE:1] -synonym: "cortical dysplasia, complex, with other brain malformations 3" RELATED [MONDO:Lexical, OMIM:615411] -synonym: "cortical dysplasia, Complex, with Other brain malformations type 3" EXACT [MONDORULE:1, OMIM:615411] +synonym: "complex cortical dysplasia with other brain malformations type 3" EXACT [MONDORULE:1] +synonym: "cortical dysplasia, complex, with other brain malformations 3" RELATED [MONDO:Lexical] +synonym: "cortical dysplasia, Complex, with Other brain malformations type 3" EXACT [MONDORULE:1] synonym: "KIF2A complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090134 {source="MONDO:equivalentTo"} xref: MEDGEN:815744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326295,9 +326355,9 @@ name: complex cortical dysplasia with other brain malformations 4 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CDCBM4" EXACT ABBREVIATION [DOID:0090138, MONDO:Lexical, OMIM:615412] synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBG1" EXACT [MONDO:design_pattern] -synonym: "complex cortical dysplasia with other brain malformations type 4" EXACT [DOID:0090138, MONDORULE:1] -synonym: "cortical dysplasia, complex, with other brain malformations 4" RELATED [MONDO:Lexical, OMIM:615412] -synonym: "cortical dysplasia, Complex, with Other brain malformations type 4" EXACT [MONDORULE:1, OMIM:615412] +synonym: "complex cortical dysplasia with other brain malformations type 4" EXACT [MONDORULE:1] +synonym: "cortical dysplasia, complex, with other brain malformations 4" RELATED [MONDO:Lexical] +synonym: "cortical dysplasia, Complex, with Other brain malformations type 4" EXACT [MONDORULE:1] synonym: "TUBG1 complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090138 {source="MONDO:equivalentTo"} xref: MEDGEN:815750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326317,9 +326377,9 @@ subset: gard_rare {source="GARD:15960", source="MONDO:GARD"} subset: rare synonym: "azoospermia caused by mutation in NANOS1" EXACT [MONDO:design_pattern] synonym: "NANOS1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spermatogenic failure 12" EXACT [MONDO:Lexical, OMIM:615413] -synonym: "spermatogenic failure type 12" EXACT [MONDORULE:2, OMIM:615413] -synonym: "SPGF12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615413] +synonym: "spermatogenic failure 12" EXACT [DOID:0070171, MONDO:Lexical, OMIM:615413] +synonym: "spermatogenic failure type 12" EXACT [MONDORULE:2] +synonym: "SPGF12" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070171 {source="MONDO:equivalentTo"} xref: GARD:15960 {source="MONDO:GARD"} xref: MEDGEN:815757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326343,7 +326403,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive primary microcephaly caused by mutation in PHC1" EXACT [MONDO:design_pattern] -synonym: "MCPH11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615414] +synonym: "MCPH11" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 11, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615414] synonym: "PHC1 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070287 {source="MONDO:equivalentTo"} @@ -326365,8 +326425,8 @@ subset: rare synonym: "NEK8 renal-hepatic-pancreatic dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "renal-hepatic-pancreatic dysplasia 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615415] synonym: "renal-hepatic-pancreatic dysplasia caused by mutation in NEK8" EXACT [MONDO:design_pattern] -synonym: "renal-hepatic-pancreatic dysplasia type 2" EXACT [MONDORULE:1, OMIM:615415] -synonym: "RHPD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615415] +synonym: "renal-hepatic-pancreatic dysplasia type 2" EXACT [MONDORULE:1] +synonym: "RHPD2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18432 {source="MONDO:GARD"} xref: MEDGEN:815764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615415 {source="MONDO:equivalentTo"} @@ -326386,13 +326446,13 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15961", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mitochondrial DNA depletion syndrome 12" EXACT CLINGEN_LABEL [] -synonym: "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)" RELATED [MONDO:Lexical, OMIM:615418] -synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR" EXACT [OMIM:615418, OMIM:genemap2] -synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR" EXACT [OMIM:615418] +synonym: "mitochondrial DNA depletion syndrome 12" EXACT CLINGEN_LABEL [NCIT:C129977] +synonym: "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)" RELATED [MONDO:Lexical] +synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR" EXACT [] +synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" EXACT [OMIM:615418] -synonym: "mitochondrial DNA depletion syndrome type 12" RELATED [DOID:0080130, MONDORULE:2] -synonym: "MTDPS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615418] +synonym: "mitochondrial DNA depletion syndrome type 12" RELATED [MONDORULE:2] +synonym: "MTDPS12" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MTDPS12B" EXACT ABBREVIATION [OMIM:615418] xref: DOID:0080130 {source="MONDO:directSiblingOf"} xref: DOID:0080335 {source="MONDO:equivalentTo"} @@ -326419,9 +326479,9 @@ subset: orphanet_rare {source="Orphanet:371364"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:Lexical, OMIM:615419] -synonym: "hypotonia-speech impairment-severe cognitive delay syndrome" EXACT [MONDO:0018297] -synonym: "IHPRF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615419] +synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:Lexical, OMIMPS:615419] +synonym: "hypotonia-speech impairment-severe cognitive delay syndrome" EXACT [MONDO:0018297, Orphanet:371364] +synonym: "IHPRF" EXACT ABBREVIATION [MONDO:Lexical] synonym: "IHPRF syndrome" EXACT [Orphanet:371364] synonym: "infantile hypotonia-psychomotor retardation-characteristic facies syndrome" EXACT [Orphanet:371364] xref: GARD:17609 {source="MONDO:GARD"} @@ -326441,7 +326501,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014177 name: myopia 22, autosomal dominant synonym: "myopia 22, autosomal dominant" EXACT [MONDO:Lexical, OMIM:615420] -synonym: "MYP22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615420] +synonym: "MYP22" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:815794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615420 {source="MONDO:equivalentTo"} xref: UMLS:C3809464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:815794"} @@ -326456,11 +326516,11 @@ def: "Any inclusion body myopathy with Paget disease of bone and frontotemporal subset: gard_rare {source="GARD:15962", source="MONDO:GARD"} subset: rare synonym: "HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "IBMPFD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615422] +synonym: "IBMPFD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2" EXACT [MONDO:Lexical, OMIM:615422] -synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2" EXACT [MONDORULE:1, OMIM:615422] +synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2" EXACT [MONDORULE:1] synonym: "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1" EXACT [MONDO:design_pattern] -synonym: "multisystem Proteinopathy 2" RELATED [OMIM:615422] +synonym: "multisystem Proteinopathy 2" RELATED [] xref: DOID:0111384 {source="MONDO:equivalentTo"} xref: GARD:15962 {source="MONDO:GARD"} xref: MEDGEN:815798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326479,12 +326539,12 @@ def: "Any inclusion body myopathy with Paget disease of bone and frontotemporal subset: gard_rare {source="GARD:15963", source="MONDO:GARD"} subset: rare synonym: "HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "IBMPFD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615424] +synonym: "IBMPFD3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3" EXACT [MONDO:Lexical, OMIM:615424] -synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3" EXACT [MONDORULE:1, OMIM:615424] -synonym: "inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3" EXACT [OMIM:615424, OMIM:genemap2] +synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3" EXACT [MONDORULE:1] +synonym: "inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3" EXACT [] synonym: "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1" EXACT [MONDO:design_pattern] -synonym: "multisystem Proteinopathy 3" RELATED [OMIM:615424] +synonym: "multisystem Proteinopathy 3" RELATED [] xref: DOID:0111386 {source="MONDO:equivalentTo"} xref: GARD:15963 {source="MONDO:GARD"} xref: MEDGEN:815799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326507,13 +326567,13 @@ subset: orphanet_rare {source="Orphanet:412181"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DST-related epidermolysis bullosa simplex" EXACT [Orphanet:412181] -synonym: "EBS-AR BP230" EXACT [Orphanet:412181] -synonym: "EBSB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615425] +synonym: "EBS-AR BP230" EXACT [] +synonym: "EBSB2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency" EXACT OMO:0003005 [] -synonym: "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency" EXACT [OMIM:615425, OMIM:genemap2] +synonym: "epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency" EXACT [OMIM:615425] synonym: "epidermolysis bullosa simplex due to BP230 deficiency" EXACT [Orphanet:412181] -synonym: "epidermolysis bullosa simplex, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:615425] -synonym: "epidermolysis bullosa simplex, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:615425] +synonym: "epidermolysis bullosa simplex, autosomal recessive 2" RELATED [MONDO:Lexical] +synonym: "epidermolysis bullosa simplex, autosomal recessive type 2" EXACT [MONDORULE:1] xref: GARD:17690 {source="MONDO:GARD"} xref: ICD10CM:Q81.0 {source="Orphanet:412181", source="Orphanet:412181/attributed", source="Orphanet:412181/ntbt"} xref: MEDGEN:815800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326535,7 +326595,7 @@ subset: rare synonym: "ALS20" EXACT ABBREVIATION [DOID:0060211, MONDO:Lexical, OMIM:615426] synonym: "amyotrophic lateral sclerosis 20" EXACT [DOID:0060211, MONDO:Lexical, OMIM:615426] synonym: "amyotrophic lateral sclerosis caused by mutation in HNRNPA1" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis type 20" EXACT [MONDORULE:2, OMIM:615426] +synonym: "amyotrophic lateral sclerosis type 20" EXACT [DOID:0060211, MONDORULE:2] synonym: "HNRNPA1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060211 {source="MONDO:equivalentTo"} xref: GARD:15964 {source="MONDO:GARD"} @@ -326555,13 +326615,13 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22649", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 88" NARROW [DOID:0110533] -synonym: "autosomal recessive nonsyndromic deafness 88" NARROW [OMIM:615429] +synonym: "autosomal recessive deafness 88" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 88" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 88" NARROW [DOID:0110533, MONDORULE:2] -synonym: "deafness, autosomal recessive 88" NARROW [MONDO:Lexical, OMIM:615429, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 88" NARROW [MONDORULE:2, OMIM:615429] -synonym: "DFNB88" NARROW ABBREVIATION [DOID:0110533, MONDO:Lexical, OMIM:615429] +synonym: "autosomal recessive nonsyndromic deafness type 88" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 88" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 88" NARROW [MONDORULE:2] +synonym: "DFNB88" NARROW ABBREVIATION [MONDO:Lexical] synonym: "ELMOD3 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110533 {source="MONDO:equivalentTo"} xref: GARD:22649 {source="MONDO:GARD"} @@ -326583,7 +326643,7 @@ subset: gard_rare {source="GARD:18198", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "myopia 23, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615431] -synonym: "MYP23" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615431] +synonym: "MYP23" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18198 {source="MONDO:GARD"} xref: MEDGEN:815812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615431 {source="MONDO:equivalentTo"} @@ -326599,7 +326659,7 @@ def: "A communication disorder that involves the processing of linguistic inform subset: otar {source="MONDO:OTAR"} synonym: "SLI5" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615432] synonym: "specific language impairment 5" EXACT [OMIM:615432] -synonym: "specific language impairment type 5" EXACT [MONDORULE:1, OMIM:615432] +synonym: "specific language impairment type 5" EXACT [MONDORULE:1] xref: EFO:0005425 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:815813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615432 {source="EFO:0005425", source="MONDO:equivalentTo"} @@ -326619,8 +326679,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1621"} subset: orphanet_rare {source="Orphanet:1621"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3q13 microdeletion syndrome" EXACT [DOID:0060418] -synonym: "chromosome 3q13.31 deletion syndrome" EXACT [OMIM:615433] +synonym: "3q13 microdeletion syndrome" EXACT [DOID:0060418, Orphanet:1621] +synonym: "chromosome 3q13.31 deletion syndrome" EXACT [DOID:0060418, OMIM:615433] synonym: "Del(3)(q13)" EXACT [Orphanet:1621] synonym: "monosomy 3q13" EXACT [DOID:0060418, Orphanet:1621] xref: DOID:0060418 {source="MONDO:equivalentTo"} @@ -326648,7 +326708,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARL2BP retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa caused by mutation in ARL2BP" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa with or without situs inversus" EXACT CLINGEN_LABEL [OMIM:615434] +synonym: "retinitis pigmentosa with or without situs inversus" EXACT CLINGEN_LABEL [DOID:0110419] xref: DOID:0110419 {source="MONDO:equivalentTo"} xref: GARD:15965 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="DOID:0110419"} @@ -326668,9 +326728,9 @@ def: "Any familial thoracic aortic aneurysm and aortic dissection in which the c subset: gard_rare {source="GARD:15966", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AAT8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615436] +synonym: "AAT8" RELATED ABBREVIATION [MONDO:Lexical] synonym: "aortic aneurysm, familial thoracic 8" EXACT [MONDO:Lexical, OMIM:615436] -synonym: "aortic aneurysm, familial thoracic type 8" EXACT [MONDORULE:1, OMIM:615436] +synonym: "aortic aneurysm, familial thoracic type 8" EXACT [MONDORULE:1] synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1" EXACT [MONDO:design_pattern] synonym: "PRKG1 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15966 {source="MONDO:GARD"} @@ -326694,13 +326754,13 @@ replaced_by: MONDO:0024568 id: MONDO:0014189 name: age related macular degeneration 13 def: "An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] -synonym: "age related macular degeneration type 13" EXACT [DOID:0110025, MONDORULE:2] +synonym: "age related macular degeneration type 13" EXACT [MONDORULE:2] synonym: "age-related macular degeneration caused by mutation in CFI" EXACT [MONDO:design_pattern] synonym: "ARMD13" EXACT ABBREVIATION [DOID:0110025, MONDO:Lexical, OMIM:615439] synonym: "CFI age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "macular degeneration, age-related, 13" RELATED [MONDO:Lexical, OMIM:615439] -synonym: "macular degeneration, age-related, 13, susceptibility to" EXACT [OMIM:615439, OMIM:genemap2] -synonym: "macular degeneration, age-related, type 13" EXACT [MONDORULE:2, OMIM:615439] +synonym: "macular degeneration, age-related, 13" RELATED [MONDO:Lexical] +synonym: "macular degeneration, age-related, 13, susceptibility to" EXACT [] +synonym: "macular degeneration, age-related, type 13" EXACT [MONDORULE:2] xref: DOID:0110025 {source="MONDO:equivalentTo"} xref: MEDGEN:815853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615439 {source="MONDO:equivalentTo", source="DOID:0110025"} @@ -326724,10 +326784,10 @@ subset: ordo_disorder {source="Orphanet:369913"} subset: orphanet_rare {source="Orphanet:369913"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 17" RELATED [MONDO:Lexical, OMIM:615440] +synonym: "combined oxidative phosphorylation deficiency 17" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in ELAC2" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 17" EXACT [MONDORULE:2, OMIM:615440] -synonym: "COXPD17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615440, Orphanet:369913] +synonym: "combined oxidative phosphorylation deficiency type 17" EXACT [MONDORULE:2] +synonym: "COXPD17" EXACT ABBREVIATION [DOID:0111496, MONDO:Lexical, OMIM:615440, Orphanet:369913] synonym: "ELAC2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111496 {source="MONDO:equivalentTo"} xref: GARD:17589 {source="MONDO:GARD"} @@ -326749,14 +326809,14 @@ def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cau subset: gard_rare {source="GARD:15967", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiac arrhythmia syndrome, with or without skeletal muscle weakness" EXACT [OMIM:615441, OMIM:genemap2] -synonym: "catecholaminergic polymorphic ventricular tachycardia 5" EXACT CLINGEN_LABEL [] +synonym: "cardiac arrhythmia syndrome, with or without skeletal muscle weakness" EXACT [OMIM:615441] +synonym: "catecholaminergic polymorphic ventricular tachycardia 5" EXACT CLINGEN_LABEL [DOID:0060679] synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN" EXACT [MONDO:design_pattern] -synonym: "catecholaminergic polymorphic ventricular tachycardia type 5" EXACT [DOID:0060679, MONDORULE:1] -synonym: "CPVT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615441] +synonym: "catecholaminergic polymorphic ventricular tachycardia type 5" EXACT [MONDORULE:1] +synonym: "CPVT5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CVPT5" EXACT ABBREVIATION [DOID:0060679] synonym: "TRDN catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" RELATED [MONDO:Lexical, OMIM:615441] +synonym: "ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" RELATED [MONDO:Lexical] xref: DOID:0060679 {source="MONDO:equivalentTo"} xref: GARD:15967 {source="MONDO:GARD"} xref: ICD10CM:I47.2 {source="MONDO:relatedTo", source="DOID:0060679"} @@ -326779,12 +326839,12 @@ subset: gard_rare {source="GARD:15968", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD22" EXACT ABBREVIATION [DOID:0110597, MONDO:Lexical, OMIM:615444] -synonym: "ciliary dyskinesia, primary, 22" RELATED [MONDO:Lexical, OMIM:615444] -synonym: "ciliary dyskinesia, primary, 22, with or without situs inversus" RELATED [OMIM:615444] -synonym: "ciliary dyskinesia, primary, type 22" EXACT [MONDORULE:2, OMIM:615444] +synonym: "ciliary dyskinesia, primary, 22" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 22, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 22" EXACT [MONDORULE:2] synonym: "primary ciliary dyskinesia 22 with or without situs inversus" EXACT [DOID:0110597] synonym: "primary ciliary dyskinesia caused by mutation in ZMYND10" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 22" EXACT [DOID:0110597, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 22" EXACT [MONDORULE:2] synonym: "ZMYND10 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110597 {source="MONDO:equivalentTo"} xref: GARD:15968 {source="MONDO:GARD"} @@ -326808,12 +326868,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARMC4 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD23" EXACT ABBREVIATION [DOID:0110609, MONDO:Lexical, OMIM:615451] -synonym: "ciliary dyskinesia, primary, 23" RELATED [MONDO:Lexical, OMIM:615451] -synonym: "ciliary dyskinesia, primary, 23, with or without situs inversus" RELATED [OMIM:615451] -synonym: "ciliary dyskinesia, primary, type 23" EXACT [MONDORULE:2, OMIM:615451] +synonym: "ciliary dyskinesia, primary, 23" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 23, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 23" EXACT [MONDORULE:2] synonym: "primary ciliary dyskinesia 23 with or without situs inversus" EXACT [DOID:0110609] synonym: "primary ciliary dyskinesia caused by mutation in ARMC4" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 23" EXACT [DOID:0110609, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 23" EXACT [MONDORULE:2] xref: DOID:0110609 {source="MONDO:equivalentTo"} xref: GARD:15969 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110609"} @@ -326834,10 +326894,10 @@ def: "Any mitochondrial complex III deficiency in which the cause of the disease subset: gard_rare {source="GARD:15970", source="MONDO:GARD"} subset: rare synonym: "CYC1 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MC3DN6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615453] -synonym: "mitochondrial Complex 3 deficiency, nuclear type 6" RELATED [OMIM:615453] +synonym: "MC3DN6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mitochondrial Complex 3 deficiency, nuclear type 6" RELATED [] synonym: "mitochondrial complex III deficiency caused by mutation in CYC1" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex III deficiency, nuclear type 6" RELATED [MONDO:Lexical, OMIM:615453] +synonym: "mitochondrial complex III deficiency, nuclear type 6" RELATED [MONDO:Lexical] xref: DOID:0080115 {source="MONDO:equivalentTo"} xref: GARD:15970 {source="MONDO:GARD"} xref: MEDGEN:815883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326861,10 +326921,10 @@ subset: ordo_disorder {source="Orphanet:369970"} subset: orphanet_rare {source="Orphanet:369970"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "microcornea, myopic chorioretinal atrophy, and telecanthus" RELATED [MONDO:Lexical, OMIM:615458] +synonym: "microcornea, myopic chorioretinal atrophy, and telecanthus" RELATED [MONDO:Lexical] synonym: "microcornea-myopic chorioretinal atrophy" EXACT CLINGEN_LABEL [] -synonym: "microcornea-myopic chorioretinal atrophy-telecanthus syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/2900, https://orcid.org/0000-0002-5655-9589] -synonym: "MMCAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615458] +synonym: "microcornea-myopic chorioretinal atrophy-telecanthus syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/2900, https://orcid.org/0000-0002-5655-9589, Orphanet:369970] +synonym: "MMCAT" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MMCAT syndrome" EXACT [Orphanet:369970] xref: GARD:17593 {source="MONDO:GARD"} xref: ICD10CM:Q15.8 {source="Orphanet:369970/attributed", source="Orphanet:369970/ntbt", source="Orphanet:369970"} @@ -326887,12 +326947,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2117"} subset: orphanet_rare {source="Orphanet:2117"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HARTSFIELD syndrome" RELATED [MONDO:Lexical, OMIM:615465] +synonym: "HARTSFIELD syndrome" RELATED [MONDO:Lexical] synonym: "Hartsfield-Bixler-Demyer syndrome" EXACT CLINGEN_LABEL [] -synonym: "holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate" RELATED [OMIM:615465] -synonym: "holoprosencephaly-ectrodactyly-cleft lip palate syndrome" EXACT [Orphanet:2117] +synonym: "holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate" RELATED [] +synonym: "holoprosencephaly-ectrodactyly-cleft lip palate syndrome" EXACT [] synonym: "holoprosencephaly-ectrodactyly-cleft lip/palate syndrome" EXACT [Orphanet:2117] -synonym: "HRTFDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615465] +synonym: "HRTFDS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:2725 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2117", source="Orphanet:2117/attributed", source="Orphanet:2117/ntbt"} xref: MEDGEN:335111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -326923,10 +326983,10 @@ subset: ordo_disorder {source="Orphanet:397964"} subset: orphanet_rare {source="Orphanet:397964"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined immunodeficiency due to MALT1 deficiency" EXACT CLINGEN_LABEL [] -synonym: "IMD12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615468] -synonym: "immunodeficiency 12" RELATED [MONDO:Lexical, OMIM:615468] -synonym: "immunodeficiency type 12" EXACT [MONDORULE:2, OMIM:615468] +synonym: "combined immunodeficiency due to MALT1 deficiency" EXACT CLINGEN_LABEL [DOID:0111988, Orphanet:397964] +synonym: "IMD12" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 12" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 12" EXACT [MONDORULE:2] xref: DOID:0111988 {source="MONDO:equivalentTo"} xref: GARD:17647 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:397964", source="Orphanet:397964/attributed", source="Orphanet:397964/ntbt"} @@ -326955,12 +327015,12 @@ synonym: "encephalomyopathic mitochondrial DNA depletion syndrome-13" RELATED [G synonym: "FBXL4 deficiency" RELATED [GARD:0013298] synonym: "FBXL4 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" RELATED [GARD:0013298] -synonym: "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" RELATED [MONDO:Lexical, OMIM:615471] +synonym: "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" RELATED [MONDO:Lexical] synonym: "mitochondrial DNA depletion syndrome caused by mutation in FBXL4" EXACT [MONDO:design_pattern] -synonym: "mitochondrial DNA depletion syndrome type 13" EXACT [DOID:0080131, MONDORULE:2] -synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" RELATED [Orphanet:369897] +synonym: "mitochondrial DNA depletion syndrome type 13" EXACT [MONDORULE:2] +synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" RELATED [] synonym: "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" EXACT [Orphanet:369897] -synonym: "MTDPS13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615471] +synonym: "MTDPS13" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080131 {source="MONDO:equivalentTo"} xref: GARD:13298 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:369897/attributed", source="Orphanet:369897/ntbt", source="Orphanet:369897"} @@ -326983,13 +327043,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:13378", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE17" EXACT ABBREVIATION [OMIM:615473] -synonym: "developmental and epileptic encephalopathy 17" EXACT [OMIM:615473, OMIM:genemap2] +synonym: "DEE17" EXACT ABBREVIATION [DOID:0080450, OMIM:615473] +synonym: "developmental and epileptic encephalopathy 17" EXACT [DOID:0080450, OMIM:615473] synonym: "early infantile epileptic encephalopathy caused by mutation in GNAO1" EXACT [MONDO:design_pattern] synonym: "early infantile epileptic encephalopathy-17" EXACT [GARD:0013378] -synonym: "EIEE17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615473] +synonym: "EIEE17" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 17" EXACT [MONDO:Lexical, OMIM:615473] -synonym: "epileptic encephalopathy, early infantile, type 17" EXACT [MONDORULE:2, OMIM:615473] +synonym: "epileptic encephalopathy, early infantile, type 17" EXACT [MONDORULE:2] synonym: "GNAO1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GNAO1 encephalopathy" RELATED [GARD:0013378] xref: DOID:0080450 {source="MONDO:equivalentTo"} @@ -327013,15 +327073,15 @@ subset: ordo_disorder {source="Orphanet:369929"} subset: orphanet_rare {source="Orphanet:369929"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aldosterone-secreting adenoma" RELATED [Orphanet:85142] -synonym: "aldosterone-secreting adenoma with seizures and neurological abnormalities" EXACT [Orphanet:369929] -synonym: "aldosteronoma" RELATED [Orphanet:85142] -synonym: "APA with seizures and neurological abnormalities" EXACT [Orphanet:369929] +synonym: "aldosterone-secreting adenoma" RELATED [] +synonym: "aldosterone-secreting adenoma with seizures and neurological abnormalities" EXACT [] +synonym: "aldosteronoma" RELATED [] +synonym: "APA with seizures and neurological abnormalities" EXACT [] synonym: "complex neurodevelopmental disorder with or without aldosteronism" EXACT [PMID:23913001, PMID:32583268, PMID:37122292] -synonym: "Conn adenoma" RELATED [Orphanet:85142] -synonym: "Conn adenoma with seizures and neurological abnormalities" EXACT [Orphanet:369929] -synonym: "PASNA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615474] -synonym: "primary aldosteronism due to Conn adenoma" RELATED [Orphanet:85142] +synonym: "Conn adenoma" RELATED [] +synonym: "Conn adenoma with seizures and neurological abnormalities" EXACT [] +synonym: "PASNA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "primary aldosteronism due to Conn adenoma" RELATED [] synonym: "primary aldosteronism, seizures, and neurologic abnormalities" EXACT [MONDO:Lexical, OMIM:615474] xref: GARD:17591 {source="MONDO:GARD"} xref: ICD10CM:E26.0 {source="Orphanet:369929/attributed", source="Orphanet:369929/ntbt", source="Orphanet:369929"} @@ -327041,12 +327101,12 @@ subset: gard_rare {source="GARD:13676", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE18" EXACT ABBREVIATION [OMIM:615476] -synonym: "developmental and epileptic encephalopathy 18" EXACT [OMIM:615476, OMIM:genemap2] -synonym: "early infantile epileptic encephalopathy without suppression burst" EXACT [OMIM:615476] -synonym: "EIEE18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615476] +synonym: "DEE18" EXACT ABBREVIATION [DOID:0080413, OMIM:615476] +synonym: "developmental and epileptic encephalopathy 18" EXACT [DOID:0080413, OMIM:615476] +synonym: "early infantile epileptic encephalopathy without suppression burst" EXACT [] +synonym: "EIEE18" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 18" EXACT [MONDO:Lexical, OMIM:615476] -synonym: "epileptic encephalopathy, early infantile, type 18" EXACT [MONDORULE:2, OMIM:615476] +synonym: "epileptic encephalopathy, early infantile, type 18" EXACT [MONDORULE:2] xref: DOID:0080413 {source="MONDO:equivalentTo"} xref: GARD:13676 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:369894/attributed", source="Orphanet:369894/ntbt", source="Orphanet:369894"} @@ -327069,13 +327129,13 @@ subset: gard_rare {source="GARD:15971", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD24" EXACT ABBREVIATION [DOID:0110628, MONDO:Lexical, OMIM:615481] -synonym: "ciliary dyskinesia, primary, 24" RELATED [MONDO:Lexical, OMIM:615481] -synonym: "ciliary dyskinesia, primary, 24, without situs inversus" RELATED [OMIM:615481] -synonym: "ciliary dyskinesia, primary, type 24" EXACT [MONDORULE:2, OMIM:615481] -synonym: "primary ciliary dyskinesia 24" EXACT CLINGEN_LABEL [] +synonym: "ciliary dyskinesia, primary, 24" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 24, without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 24" EXACT [MONDORULE:2] +synonym: "primary ciliary dyskinesia 24" EXACT CLINGEN_LABEL [DOID:0110628] synonym: "primary ciliary dyskinesia 24 without situs inversus" EXACT [DOID:0110628] synonym: "primary ciliary dyskinesia caused by mutation in RSPH1" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 24" EXACT [DOID:0110628, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 24" EXACT [MONDORULE:2] synonym: "RSPH1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110628 {source="MONDO:equivalentTo"} xref: GARD:15971 {source="MONDO:GARD"} @@ -327097,13 +327157,13 @@ subset: gard_rare {source="GARD:15972", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD25" EXACT ABBREVIATION [DOID:0110615, MONDO:Lexical, OMIM:615482] -synonym: "ciliary dyskinesia, primary, 25" RELATED [MONDO:Lexical, OMIM:615482] -synonym: "ciliary dyskinesia, primary, 25, with or without situs inversus" RELATED [OMIM:615482] -synonym: "ciliary dyskinesia, primary, type 25" EXACT [MONDORULE:2, OMIM:615482] +synonym: "ciliary dyskinesia, primary, 25" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 25, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 25" EXACT [MONDORULE:2] synonym: "DNAAF4 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia 25 with or without situs inversus" EXACT [DOID:0110615] synonym: "primary ciliary dyskinesia caused by mutation in DNAAF4" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 25" EXACT [DOID:0110615, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 25" EXACT [MONDORULE:2] xref: DOID:0110615 {source="MONDO:equivalentTo"} xref: GARD:15972 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110615"} @@ -327121,8 +327181,8 @@ name: basal ganglia calcification, idiopathic, 5 subset: gard_rare {source="GARD:15973", source="MONDO:GARD"} subset: rare synonym: "basal ganglia calcification, idiopathic, 5" EXACT [MONDO:Lexical, OMIM:615483] -synonym: "basal ganglia calcification, idiopathic, type 5" EXACT [MONDORULE:1, OMIM:615483] -synonym: "IBGC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615483] +synonym: "basal ganglia calcification, idiopathic, type 5" EXACT [MONDORULE:1] +synonym: "IBGC5" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15973 {source="MONDO:GARD"} xref: MEDGEN:815975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615483 {source="MONDO:equivalentTo"} @@ -327141,11 +327201,11 @@ subset: ordo_disorder {source="Orphanet:352577"} subset: orphanet_rare {source="Orphanet:352577"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ASXL3-Related Disorder" EXACT [NORD:139551] -synonym: "BAINBRIDGE-ROPERS syndrome" RELATED [MONDO:Lexical, OMIM:615485] -synonym: "Bainbridge-Roppers syndrome" EXACT [Orphanet:352577] -synonym: "BRPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615485] -synonym: "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" EXACT CLINGEN_LABEL [] +synonym: "ASXL3-Related Disorder" EXACT [DOID:0080893, NORD:139551] +synonym: "BAINBRIDGE-ROPERS syndrome" RELATED [MONDO:Lexical] +synonym: "Bainbridge-Roppers syndrome" EXACT [] +synonym: "BRPS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome" EXACT CLINGEN_LABEL [Orphanet:352577] xref: DOID:0080893 {source="MONDO:equivalentTo"} xref: GARD:13259 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:352577", source="Orphanet:352577/attributed", source="Orphanet:352577/ntbt"} @@ -327169,12 +327229,12 @@ subset: orphanet_rare {source="Orphanet:440427"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary pulmonary alveolar proteinosis with hepatic involvement" EXACT [Orphanet:440427] -synonym: "ILLD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615486] -synonym: "infantile liver failure syndrome 2" RELATED [OMIM:615486] -synonym: "infantile liver failure syndrome 2, formerly" RELATED [OMIM:615486] +synonym: "ILLD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "infantile liver failure syndrome 2" RELATED [] +synonym: "infantile liver failure syndrome 2, formerly" RELATED [] synonym: "interstitial lung and liver disease" EXACT [MONDO:Lexical, OMIM:615486, Orphanet:440427] synonym: "PAP, Reunion island type" EXACT [Orphanet:440427] -synonym: "pulmonary alveolar proteinosis, Reunion Island" RELATED [OMIM:615486] +synonym: "pulmonary alveolar proteinosis, Reunion Island" RELATED [] synonym: "pulmonary alveolar proteinosis, Reunion island type" EXACT [Orphanet:440427] xref: GARD:17746 {source="MONDO:GARD"} xref: ICD10CM:J84.0 {source="Orphanet:440427", source="Orphanet:440427/attributed", source="Orphanet:440427/ntbt"} @@ -327194,12 +327254,12 @@ def: "An age related macular degeneration associated with variation at or near t subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "age related macular degeneration type 14" EXACT [DOID:0110026, MONDORULE:2] +synonym: "age related macular degeneration type 14" EXACT [MONDORULE:2] synonym: "ARMD14" EXACT ABBREVIATION [DOID:0110026, MONDO:Lexical, OMIM:615489] -synonym: "macular degeneration, age-related, 14" RELATED [MONDO:Lexical, OMIM:615489] -synonym: "macular degeneration, age-related, 14, reduced risk of, digenic dominant" EXACT [OMIM:615489, OMIM:genemap2] -synonym: "macular Degeneration, age-related, reduced risk of" RELATED [OMIM:615489] -synonym: "macular Degeneration, age-related, type 14" EXACT [MONDORULE:2, OMIM:615489] +synonym: "macular degeneration, age-related, 14" RELATED [MONDO:Lexical] +synonym: "macular degeneration, age-related, 14, reduced risk of, digenic dominant" EXACT [] +synonym: "macular Degeneration, age-related, reduced risk of" RELATED [] +synonym: "macular Degeneration, age-related, type 14" EXACT [MONDORULE:2] xref: DOID:0110026 {source="MONDO:equivalentTo"} xref: MEDGEN:815983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615489 {source="MONDO:equivalentTo", source="DOID:0110026"} @@ -327220,12 +327280,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R" EXACT [DOID:0110161] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease type 2R" EXACT CLINGEN_LABEL [] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R" RELATED [GARD:0012451, OMIM:615490] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2R" RELATED [MONDO:Lexical, OMIM:615490] -synonym: "Charcot-Marie-Tooth disease, type 2R" EXACT [OMIM:615490, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease type 2R" EXACT CLINGEN_LABEL [DOID:0110161, Orphanet:397968] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R" RELATED [GARD:0012451] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2R" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, type 2R" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2R" EXACT [DOID:0110161] -synonym: "Charcot-Marie-Tooth neuropathy, type 2R" RELATED [OMIM:615490] +synonym: "Charcot-Marie-Tooth neuropathy, type 2R" RELATED [] synonym: "CMT2R" EXACT ABBREVIATION [DOID:0110161, GARD:0012451, MONDO:Lexical, OMIM:615490, Orphanet:397968] synonym: "TRIM2 Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110161 {source="MONDO:equivalentTo"} @@ -327253,10 +327313,10 @@ subset: ordo_disorder {source="Orphanet:352654"} subset: orphanet_rare {source="Orphanet:352654"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NDGOA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615491] -synonym: "neurodegeneration with optic atrophy, childhood-onset" RELATED [MONDO:Lexical, OMIM:615491] -synonym: "spastic paraplegia 79, autosomal recessive" RELATED [OMIM:615491] -synonym: "SPG79" RELATED ABBREVIATION [OMIM:615491] +synonym: "NDGOA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "neurodegeneration with optic atrophy, childhood-onset" RELATED [MONDO:Lexical] +synonym: "spastic paraplegia 79, autosomal recessive" RELATED [] +synonym: "SPG79" RELATED ABBREVIATION [] xref: DOID:0112344 {source="MONDO:equivalentTo"} xref: GARD:17523 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:352654", source="Orphanet:352654/attributed", source="Orphanet:352654/ntbt"} @@ -327277,12 +327337,12 @@ subset: ordo_disorder {source="Orphanet:356996"} subset: orphanet_rare {source="Orphanet:356996"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, autosomal recessive 37" RELATED [MONDO:Lexical, OMIM:615493] -synonym: "intellectual disability, autosomal recessive type 37" EXACT [MONDORULE:2, OMIM:615493] -synonym: "mental retardation, autosomal recessive 37" RELATED DEPRECATED [MONDO:Lexical, OMIM:615493] -synonym: "mental retardation, autosomal recessive type 37" EXACT DEPRECATED [MONDORULE:2, OMIM:615493] -synonym: "mental retardation, autosomal recessive, 37" EXACT [OMIM:615493, OMIM:genemap2] -synonym: "MRT37" RELATED DEPRECATED [MONDO:Lexical, OMIM:615493] +synonym: "intellectual disability, autosomal recessive 37" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 37" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 37" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 37" EXACT DEPRECATED [MONDORULE:2] +synonym: "mental retardation, autosomal recessive, 37" EXACT [] +synonym: "MRT37" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081202 {source="MONDO:equivalentTo"} xref: GARD:17541 {source="MONDO:GARD"} xref: ICD10CM:G93.8 {source="Orphanet:356996/attributed", source="Orphanet:356996/ntbt", source="Orphanet:356996"} @@ -327305,12 +327365,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CFAP298 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD26" EXACT ABBREVIATION [DOID:0110627, MONDO:Lexical, OMIM:615500] -synonym: "ciliary dyskinesia, primary, 26" RELATED [MONDO:Lexical, OMIM:615500] -synonym: "ciliary dyskinesia, primary, 26, with or without situs inversus" RELATED [OMIM:615500] -synonym: "ciliary dyskinesia, primary, type 26" EXACT [MONDORULE:2, OMIM:615500] +synonym: "ciliary dyskinesia, primary, 26" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 26, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 26" EXACT [MONDORULE:2] synonym: "primary ciliary dyskinesia 26 with or without situs inversus" EXACT [DOID:0110627] synonym: "primary ciliary dyskinesia caused by mutation in CFAP298" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 26" EXACT [DOID:0110627, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 26" EXACT [MONDORULE:2] xref: DOID:0110627 {source="MONDO:equivalentTo"} xref: GARD:15974 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110627"} @@ -327337,11 +327397,11 @@ subset: rare synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" EXACT [DOID:0111166, Orphanet:308400] synonym: "MOCOD type C" EXACT [DOID:0111166, Orphanet:308400] synonym: "MOCODC" EXACT ABBREVIATION [DOID:0111166, MONDO:Lexical, OMIM:615501] -synonym: "molybdenum cofactor deficiency C" EXACT [OMIM:615501, OMIM:genemap2] +synonym: "molybdenum cofactor deficiency C" EXACT [] synonym: "molybdenum cofactor deficiency complementation group C" EXACT [DOID:0111166] -synonym: "molybdenum cofactor deficiency type C" RELATED [DOID:0111166] -synonym: "molybdenum cofactor deficiency, complementation group C" RELATED [MONDO:Lexical, OMIM:615501] -synonym: "molybdenum cofactor deficiency, complementation group type C" EXACT [MONDORULE:1, OMIM:615501] +synonym: "molybdenum cofactor deficiency type C" RELATED [] +synonym: "molybdenum cofactor deficiency, complementation group C" RELATED [MONDO:Lexical] +synonym: "molybdenum cofactor deficiency, complementation group type C" EXACT [MONDORULE:1] xref: DOID:0111166 {source="MONDO:equivalentTo"} xref: GARD:17388 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:308400", source="Orphanet:308400/attributed", source="Orphanet:308400/ntbt"} @@ -327367,13 +327427,13 @@ subset: ordo_disorder {source="Orphanet:363611"} subset: orphanet_rare {source="Orphanet:363611"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 21" EXACT [DOID:0070051] +synonym: "autosomal dominant intellectual disability 21" EXACT [] synonym: "autosomal dominant mental retardation 21" EXACT DEPRECATED [DOID:0070051] -synonym: "autosomal dominant non-syndromic intellectual disability 21" RELATED [DOID:0070051] -synonym: "intellectual disability, autosomal dominant 21" RELATED [MONDO:Lexical, OMIM:615502] -synonym: "intellectual disability, autosomal dominant type 21" EXACT [MONDORULE:2, OMIM:615502] -synonym: "mental retardation, autosomal dominant 21" RELATED DEPRECATED [MONDO:Lexical, OMIM:615502] -synonym: "mental retardation, autosomal dominant type 21" EXACT DEPRECATED [MONDORULE:2, OMIM:615502] +synonym: "autosomal dominant non-syndromic intellectual disability 21" RELATED [] +synonym: "intellectual disability, autosomal dominant 21" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 21" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 21" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 21" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD21" EXACT ABBREVIATION [DOID:0070051, MONDO:Lexical, OMIM:615502] xref: DOID:0070051 {source="MONDO:equivalentTo"} xref: GARD:17566 {source="MONDO:GARD"} @@ -327398,8 +327458,8 @@ subset: gard_rare {source="GARD:15975", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "short rib-polydactyly syndrome type VI" EXACT [DOID:0110094] -synonym: "short rib-polydactyly syndrome, type 6" RELATED [OMIM:615503] -synonym: "short-rib thoracic dysplasia 8 with or without polydactyly" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615503] +synonym: "short rib-polydactyly syndrome, type 6" RELATED [] +synonym: "short-rib thoracic dysplasia 8 with or without polydactyly" EXACT CLINGEN_LABEL [DOID:0110094, MONDO:Lexical, OMIM:615503] synonym: "SRPS6" EXACT ABBREVIATION [DOID:0110094] synonym: "SRTD8" EXACT ABBREVIATION [DOID:0110094, MONDO:Lexical, OMIM:615503] xref: DOID:0110094 {source="MONDO:equivalentTo"} @@ -327422,12 +327482,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CCDC65 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD27" EXACT ABBREVIATION [DOID:0110611, MONDO:Lexical, OMIM:615504] -synonym: "ciliary dyskinesia, primary, 27" RELATED [MONDO:Lexical, OMIM:615504] -synonym: "ciliary dyskinesia, primary, 27, without situs inversus" RELATED [OMIM:615504] -synonym: "ciliary dyskinesia, primary, type 27" EXACT [MONDORULE:2, OMIM:615504] +synonym: "ciliary dyskinesia, primary, 27" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 27, without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 27" EXACT [MONDORULE:2] synonym: "primary ciliary dyskinesia 27 without situs inversus" EXACT [DOID:0110611] synonym: "primary ciliary dyskinesia caused by mutation in CCDC65" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 27" EXACT [DOID:0110611, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 27" EXACT [MONDORULE:2] xref: DOID:0110611 {source="MONDO:equivalentTo"} xref: GARD:15976 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110611"} @@ -327448,12 +327508,12 @@ subset: gard_rare {source="GARD:15977", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD28" EXACT ABBREVIATION [DOID:0110607, MONDO:Lexical, OMIM:615505] -synonym: "ciliary dyskinesia, primary, 28" RELATED [MONDO:Lexical, OMIM:615505] -synonym: "ciliary dyskinesia, primary, 28, with or without situs inversus" RELATED [OMIM:615505] -synonym: "ciliary dyskinesia, primary, type 28" EXACT [MONDORULE:2, OMIM:615505] +synonym: "ciliary dyskinesia, primary, 28" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 28, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 28" EXACT [MONDORULE:2] synonym: "primary ciliary dyskinesia 28 with or without situs inversus" EXACT [DOID:0110607] synonym: "primary ciliary dyskinesia caused by mutation in SPAG1" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 28" EXACT [DOID:0110607, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 28" EXACT [MONDORULE:2] synonym: "SPAG1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110607 {source="MONDO:equivalentTo"} xref: GARD:15977 {source="MONDO:GARD"} @@ -327478,7 +327538,7 @@ subset: rare synonym: "GDF2 hereditary hemorrhagic telangiectasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GDF2 related HHT-like syndrome" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "hereditary hemorrhagic telangiectasia caused by mutation in GDF2" EXACT [MONDO:design_pattern] -synonym: "HHT5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615506] +synonym: "HHT5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "telangiectasia, hereditary hemorrhagic, type 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615506] xref: GARD:15978 {source="MONDO:GARD"} xref: MEDGEN:816040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -327503,12 +327563,12 @@ subset: orphanet_rare {source="Orphanet:369992"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome" EXACT [Orphanet:369992] -synonym: "EPKHE" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615508] -synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE" EXACT [OMIM:615508, OMIM:genemap2] -synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE" RELATED [MONDO:Lexical, OMIM:615508] -synonym: "SAM syndrome" EXACT [Orphanet:369992] -synonym: "Sam syndrome" RELATED [OMIM:615508] -synonym: "severe dermatitis, multiple allergies, and metabolic wasting syndrome" RELATED [OMIM:615508] +synonym: "EPKHE" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE" EXACT [] +synonym: "erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE" RELATED [MONDO:Lexical] +synonym: "SAM syndrome" EXACT [OMIM:615508, Orphanet:369992] +synonym: "Sam syndrome" RELATED [] +synonym: "severe dermatitis, multiple allergies, and metabolic wasting syndrome" RELATED [] xref: GARD:17594 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:369992/attributed", source="Orphanet:369992/ntbt", source="Orphanet:369992"} xref: MEDGEN:816049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -327531,9 +327591,9 @@ name: alacrima, achalasia, and intellectual disability syndrome subset: gard_rare {source="GARD:12404", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AAMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:615510] -synonym: "alacrima, achalasia, and intellectual disability syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615510] -synonym: "alacrima, achalasia, and mental retardation syndrome" EXACT DEPRECATED [MONDO:Lexical, OMIM:615510] +synonym: "AAMR" RELATED DEPRECATED [MONDO:Lexical] +synonym: "alacrima, achalasia, and intellectual disability syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "alacrima, achalasia, and mental retardation syndrome" EXACT DEPRECATED [DOID:0112321, MONDO:Lexical, OMIM:615510] synonym: "GMPPA-CDG" RELATED [GARD:0012404] xref: DOID:0112321 {source="MONDO:equivalentTo"} xref: GARD:12404 {source="MONDO:GARD"} @@ -327555,14 +327615,14 @@ subset: prototype_pattern subset: rare synonym: "adenosine monophosphate deaminase 1 deficiency" RELATED [GARD:0000547] synonym: "adenosine monophosphate deaminase deficiency" RELATED [GARD:0000547] -synonym: "adenosine monophosphate deaminase-1 deficiency, myopathy due to" RELATED [OMIM:615511] +synonym: "adenosine monophosphate deaminase-1 deficiency, myopathy due to" RELATED [] synonym: "AMP deaminase 1 deficiency" RELATED [GARD:0000547] synonym: "AMP deaminase deficiency" RELATED [GARD:0000547] -synonym: "AMPD1 deficiency" RELATED [GARD:0000547, OMIM:615511] -synonym: "MMDD" RELATED ABBREVIATION [GARD:0000547, MONDO:Lexical, OMIM:615511] +synonym: "AMPD1 deficiency" RELATED [GARD:0000547] +synonym: "MMDD" RELATED ABBREVIATION [GARD:0000547, MONDO:Lexical] synonym: "myoadenylate deaminase deficiency" RELATED [GARD:0000547] -synonym: "myoadenylate deaminase deficiency, myopathy due to" RELATED [OMIM:615511] -synonym: "myopathy due to myoadenylate deaminase deficiency" EXACT [GARD:0000547, MONDO:Lexical, OMIM:615511] +synonym: "myoadenylate deaminase deficiency, myopathy due to" RELATED [] +synonym: "myopathy due to myoadenylate deaminase deficiency" EXACT [GARD:0000547, MONDO:Lexical, NCIT:C157504, OMIM:615511] xref: GARD:15248 {source="MONDO:GARD"} xref: MEDGEN:811508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C157504 {source="MONDO:equivalentTo"} @@ -327585,11 +327645,11 @@ subset: orphanet_rare {source="Orphanet:868"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hemolytic anaemia due to triosephosphate isomerase deficiency" EXACT OMO:0003005 [] -synonym: "hemolytic anemia due to triosephosphate isomerase deficiency" EXACT [OMIM:615512, OMIM:genemap2] +synonym: "hemolytic anemia due to triosephosphate isomerase deficiency" EXACT [] synonym: "TPI deficiency" RELATED [GARD:0005287] -synonym: "TPID" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615512] -synonym: "triose phosphate-isomerase deficiency" EXACT [DOID:0050884] -synonym: "triosephosphate isomerase deficiency" EXACT [MONDO:Lexical, OMIM:615512] +synonym: "TPID" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "triose phosphate-isomerase deficiency" EXACT [DOID:0050884, Orphanet:868] +synonym: "triosephosphate isomerase deficiency" EXACT [DOID:0050884, MONDO:Lexical, NCIT:C131652, OMIM:615512] xref: DOID:0050884 {source="MONDO:equivalentTo"} xref: GARD:5287 {source="MONDO:GARD"} xref: ICD10CM:D55.2 {source="Orphanet:868", source="Orphanet:868/attributed", source="Orphanet:868/ntbt"} @@ -327620,12 +327680,12 @@ subset: gard_rare {source="GARD:15979", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:111933"} subset: rare synonym: "Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)" EXACT [NORD:111933] -synonym: "Activated PI3K-Delta syndrome" RELATED [OMIM:615513] -synonym: "IMD14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615513] -synonym: "immunodeficiency 14" EXACT [MONDO:Lexical, OMIM:615513] -synonym: "immunodeficiency 14A, autosomal dominant" EXACT [OMIM:615513, OMIM:genemap2] -synonym: "immunodeficiency type 14" EXACT [MONDORULE:2, OMIM:615513] -synonym: "p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency" RELATED [OMIM:615513] +synonym: "Activated PI3K-Delta syndrome" RELATED [] +synonym: "IMD14" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 14" EXACT [DOID:0111936, MONDO:Lexical] +synonym: "immunodeficiency 14A, autosomal dominant" EXACT [] +synonym: "immunodeficiency type 14" EXACT [MONDORULE:2] +synonym: "p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency" RELATED [] xref: DOID:0111936 {source="MONDO:equivalentTo"} xref: GARD:15979 {source="MONDO:GARD"} xref: MEDGEN:811535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -327649,7 +327709,7 @@ subset: rare synonym: "ALS19" EXACT ABBREVIATION [DOID:0060210, MONDO:Lexical, OMIM:615515] synonym: "amyotrophic lateral sclerosis 19" EXACT [DOID:0060210, MONDO:Lexical, OMIM:615515] synonym: "amyotrophic lateral sclerosis caused by mutation in ERBB4" EXACT [MONDO:design_pattern] -synonym: "amyotrophic lateral sclerosis type 19" EXACT CLINGEN_LABEL [MONDORULE:2, OMIM:615515] +synonym: "amyotrophic lateral sclerosis type 19" EXACT CLINGEN_LABEL [DOID:0060210, MONDORULE:2] synonym: "ERBB4 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060210 {source="MONDO:equivalentTo"} xref: GARD:15980 {source="MONDO:GARD"} @@ -327674,12 +327734,12 @@ subset: orphanet_rare {source="Orphanet:329195"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "developmental delay with ASD and gait instability" EXACT [Orphanet:329195] -synonym: "intellectual developmental disorder, autosomal recessive 38" EXACT [OMIM:615516, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 38" RELATED [MONDO:Lexical, OMIM:615516] -synonym: "intellectual disability, autosomal recessive type 38" EXACT [MONDORULE:2, OMIM:615516] -synonym: "mental retardation, autosomal recessive 38" RELATED DEPRECATED [MONDO:Lexical, OMIM:615516] -synonym: "mental retardation, autosomal recessive type 38" EXACT DEPRECATED [MONDORULE:2, OMIM:615516] -synonym: "MRT38" RELATED DEPRECATED [MONDO:Lexical, OMIM:615516] +synonym: "intellectual developmental disorder, autosomal recessive 38" EXACT [OMIM:615516] +synonym: "intellectual disability, autosomal recessive 38" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 38" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 38" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 38" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT38" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081203 {source="MONDO:equivalentTo"} xref: GARD:17496 {source="MONDO:GARD"} xref: MEDGEN:816083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -327708,11 +327768,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FTH1 hereditary hemochromatosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "FTH1-associated iron overload" EXACT [DOID:0111031, Orphanet:247790] -synonym: "FTH1-related iron overload" EXACT [DOID:0111031] -synonym: "hemochromatosis, type 5" RELATED [MONDO:Lexical, OMIM:615517] +synonym: "FTH1-related iron overload" EXACT [DOID:0111031, Orphanet:247790] +synonym: "hemochromatosis, type 5" RELATED [MONDO:Lexical] synonym: "hereditary hemochromatosis caused by mutation in FTH1" EXACT [MONDO:design_pattern] synonym: "HFE5" EXACT ABBREVIATION [DOID:0111031, MONDO:Lexical, OMIM:615517] -synonym: "iron overload, autosomal dominant" RELATED [OMIM:615517] +synonym: "iron overload, autosomal dominant" RELATED [] xref: DOID:0111031 {source="MONDO:equivalentTo"} xref: GARD:13472 {source="MONDO:GARD"} xref: ICD10CM:E83.1 {source="DOID:0111031", source="Orphanet:247790", source="Orphanet:447792", source="Orphanet:247790/attributed", source="Orphanet:247790/ntbt", source="Orphanet:447792/attributed", source="Orphanet:447792/ntbt"} @@ -327738,11 +327798,11 @@ subset: orphanet_rare {source="Orphanet:228000"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ICL" RELATED ABBREVIATION [GARD:0012375] -synonym: "idiopathic Cd4 lymphopenia" RELATED [OMIM:615518] +synonym: "idiopathic Cd4 lymphopenia" RELATED [] synonym: "idiopathic CD4 positive T-lymphocytopenia" RELATED [GARD:0012375] -synonym: "IMD13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615518] -synonym: "immunodeficiency 13" RELATED [MONDO:Lexical, OMIM:615518] -synonym: "immunodeficiency type 13" EXACT [MONDORULE:2, OMIM:615518] +synonym: "IMD13" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 13" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 13" EXACT [MONDORULE:2] xref: DOID:0111987 {source="MONDO:equivalentTo"} xref: GARD:12375 {source="MONDO:GARD"} xref: ICD10CM:D72.8 {source="Orphanet:228000/attributed", source="Orphanet:228000/ntbt", source="Orphanet:228000"} @@ -327766,12 +327826,12 @@ subset: ordo_disorder {source="Orphanet:324561"} subset: orphanet_rare {source="Orphanet:324561"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COLE disease" RELATED [MONDO:Lexical, OMIM:615522] -synonym: "Cole disease" EXACT [Orphanet:324561] -synonym: "COLED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615522] +synonym: "COLE disease" RELATED [MONDO:Lexical] +synonym: "Cole disease" EXACT [OMIM:615522, Orphanet:324561] +synonym: "COLED" RELATED ABBREVIATION [MONDO:Lexical] synonym: "guttate hypopigmentation" RELATED [GARD:0012384] synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma" EXACT [Orphanet:324561] -synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [OMIM:615522] +synonym: "guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [] synonym: "hypopigmentation and punctate keratosis of the palms and soles" EXACT [Orphanet:324561] synonym: "punctate palmoplantar keratoderma with or without ectopic calcification" RELATED [GARD:0012384] xref: GARD:12384 {source="MONDO:GARD"} @@ -327795,8 +327855,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AGBL1 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "corneal dystrophy, Fuchs endothelial, 8" EXACT [MONDO:Lexical, OMIM:615523] -synonym: "corneal dystrophy, Fuchs endothelial, type 8" EXACT [MONDORULE:1, OMIM:615523] -synonym: "FECD8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615523] +synonym: "corneal dystrophy, Fuchs endothelial, type 8" EXACT [MONDORULE:1] +synonym: "FECD8" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Fuchs' endothelial dystrophy caused by mutation in AGBL1" EXACT [MONDO:design_pattern] xref: GARD:18223 {source="MONDO:GARD"} xref: MEDGEN:816128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -327815,10 +327875,10 @@ def: "Syndromic microphthalmia-12 is a rare disease characterized by bilateral s subset: gard_rare {source="GARD:13235", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCOPS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615524] -synonym: "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects" RELATED [OMIM:615524] +synonym: "MCOPS12" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects" RELATED [] synonym: "microphthalmia, syndromic 12" EXACT [MONDO:Lexical, OMIM:615524] -synonym: "microphthalmia, syndromic type 12" EXACT [MONDORULE:2, OMIM:615524] +synonym: "microphthalmia, syndromic type 12" EXACT [MONDORULE:2] synonym: "RARB syndromic microphthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "syndromic microphthalmia caused by mutation in RARB" EXACT [MONDO:design_pattern] synonym: "syndromic microphthalmia-12" RELATED [GARD:0013235] @@ -327841,10 +327901,10 @@ def: "Any chronic mucocutaneous candidiasis in which the cause of the disease is subset: gard_rare {source="GARD:15981", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CANDF8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615527] -synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED [OMIM:615527] +synonym: "CANDF8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "candidiasis, familial chronic mucocutaneous, autosomal recessive" RELATED [] synonym: "candidiasis, familial, 8" EXACT [MONDO:Lexical, OMIM:615527] -synonym: "candidiasis, familial, type 8" EXACT [MONDORULE:1, OMIM:615527] +synonym: "candidiasis, familial, type 8" EXACT [MONDORULE:1] synonym: "chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2" EXACT [] synonym: "TRAF3IP2 chronic mucocutaneous candidiasis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: GARD:15981 {source="MONDO:GARD"} @@ -327863,15 +327923,15 @@ def: "Any Parkinson disease in which the cause of the disease is a mutation in t subset: gard_rare {source="GARD:18461", source="MONDO:GARD"} subset: rare synonym: "DNAJC6 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "juvenile onset Parkinson disease 19A" EXACT CLINGEN_LABEL [] -synonym: "juvenile onset Parkinson disease type 19A" EXACT [DOID:0060891, MONDORULE:4] -synonym: "juvenile onset Parkinson's disease 19A" RELATED [DOID:0060891] -synonym: "PARK19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615528] -synonym: "Park19, formerly" RELATED [OMIM:615528] -synonym: "PARK19A" RELATED ABBREVIATION [OMIM:615528] -synonym: "Parkinson disease 19, juvenile-onset" RELATED [MONDO:Lexical, OMIM:615528] -synonym: "Parkinson disease 19A, juvenile-onset" RELATED [OMIM:615528] -synonym: "Parkinson disease 19B, early-onset" RELATED [OMIM:615528] +synonym: "juvenile onset Parkinson disease 19A" EXACT CLINGEN_LABEL [DOID:0060891] +synonym: "juvenile onset Parkinson disease type 19A" EXACT [MONDORULE:4] +synonym: "juvenile onset Parkinson's disease 19A" RELATED [] +synonym: "PARK19" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Park19, formerly" RELATED [] +synonym: "PARK19A" RELATED ABBREVIATION [] +synonym: "Parkinson disease 19, juvenile-onset" RELATED [MONDO:Lexical] +synonym: "Parkinson disease 19A, juvenile-onset" RELATED [] +synonym: "Parkinson disease 19B, early-onset" RELATED [] synonym: "Parkinson disease caused by mutation in DNAJC6" EXACT [MONDO:design_pattern] xref: DOID:0060891 {source="MONDO:equivalentTo"} xref: GARD:18461 {source="MONDO:GARD"} @@ -327895,8 +327955,8 @@ subset: predisposition synonym: "ALX4 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "craniosynostosis 5, susceptibility to" EXACT [MONDO:Lexical, OMIM:615529] synonym: "craniosynostosis caused by mutation in ALX4" EXACT [MONDO:design_pattern] -synonym: "CRS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615529] -synonym: "susceptibility to craniosynostosis 5" RELATED [OMIM:615529] +synonym: "CRS5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to craniosynostosis 5" RELATED [] xref: MEDGEN:816149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615529 {source="MONDO:equivalentTo"} xref: Orphanet:35093 {source="OMIM:615529"} @@ -327912,10 +327972,10 @@ name: early-onset Parkinson disease 20 def: "Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18462", source="MONDO:GARD"} subset: rare -synonym: "early-onset Parkinson disease type 20" EXACT [DOID:0060898, MONDORULE:2] -synonym: "early-onset Parkinson's disease 20" RELATED [DOID:0060898] -synonym: "PARK20" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615530] -synonym: "Parkinson disease 20, early-onset" RELATED [MONDO:Lexical, OMIM:615530] +synonym: "early-onset Parkinson disease type 20" EXACT [MONDORULE:2] +synonym: "early-onset Parkinson's disease 20" RELATED [] +synonym: "PARK20" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Parkinson disease 20, early-onset" RELATED [MONDO:Lexical] synonym: "Parkinson disease caused by mutation in SYNJ1" EXACT [MONDO:design_pattern] synonym: "SYNJ1 Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060898 {source="MONDO:equivalentTo"} @@ -327940,12 +328000,12 @@ subset: ordo_disorder {source="Orphanet:178307"} subset: orphanet_rare {source="Orphanet:178307"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acropigmentatio reticularis" RELATED [OMIM:615537] -synonym: "Kitamura reticulate acropigmentation" RELATED [OMIM:615537] -synonym: "RAK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615537] -synonym: "RAPK" EXACT ABBREVIATION [DOID:0060258, Orphanet:178307] -synonym: "reticulate acropigmentation of Kitamura" EXACT [MONDO:Lexical, OMIM:615537] -synonym: "reticulate pigmentation of Kitamura" RELATED [OMIM:615537] +synonym: "acropigmentatio reticularis" RELATED [] +synonym: "Kitamura reticulate acropigmentation" RELATED [] +synonym: "RAK" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "RAPK" EXACT ABBREVIATION [DOID:0060258] +synonym: "reticulate acropigmentation of Kitamura" EXACT [DOID:0060258, MONDO:Lexical, OMIM:615537, Orphanet:178307] +synonym: "reticulate pigmentation of Kitamura" RELATED [] xref: DOID:0060258 {source="MONDO:equivalentTo"} xref: GARD:17079 {source="MONDO:GARD"} xref: ICD10CM:L81.8 {source="Orphanet:178307/attributed", source="Orphanet:178307/ntbt", source="Orphanet:178307"} @@ -327966,8 +328026,8 @@ name: chromosome 22q13 duplication syndrome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "chromosome 22q13 duplication syndrome" EXACT [OMIM:615538] -synonym: "chromosome 22q13 duplication syndrome, isolated cases" EXACT [OMIM:615538, OMIM:genemap2] +synonym: "chromosome 22q13 duplication syndrome" EXACT [DOID:0060437, OMIM:615538] +synonym: "chromosome 22q13 duplication syndrome, isolated cases" EXACT [] xref: DOID:0060437 {source="MONDO:equivalentTo"} xref: MEDGEN:816174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615538 {source="MONDO:equivalentTo", source="DOID:0060437"} @@ -327987,10 +328047,10 @@ subset: gard_rare {source="GARD:15982", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DSE Ehlers-Danlos syndrome, musculocontractural type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "EDSMC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615539] -synonym: "Ehlers-Danlos syndrome, musculocontractural type 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615539] +synonym: "EDSMC2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Ehlers-Danlos syndrome, musculocontractural type 2" EXACT CLINGEN_LABEL [MONDO:Lexical] synonym: "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE" EXACT [MONDO:design_pattern] -synonym: "Ehlers-Danlos syndrome, musculocontractural type, 2" RELATED [OMIM:615539] +synonym: "Ehlers-Danlos syndrome, musculocontractural type, 2" RELATED [] xref: DOID:0080735 {source="MONDO:equivalentTo"} xref: DOID:0080737 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:15982 {source="MONDO:GARD"} @@ -328011,14 +328071,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22650", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 76" NARROW [DOID:0110524] -synonym: "autosomal recessive nonsyndromic deafness 76" NARROW [OMIM:615540] +synonym: "autosomal recessive deafness 76" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 76" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SYNE4" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 76" NARROW [DOID:0110524, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 76" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 76" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 76" NARROW [MONDO:Lexical, OMIM:615540, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 76" NARROW [MONDORULE:2, OMIM:615540] -synonym: "DFNB76" NARROW ABBREVIATION [DOID:0110524, MONDO:Lexical, OMIM:615540] +synonym: "deafness, autosomal recessive 76" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 76" NARROW [MONDORULE:2] +synonym: "DFNB76" NARROW ABBREVIATION [MONDO:Lexical] synonym: "SYNE4 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110524 {source="MONDO:equivalentTo"} xref: GARD:22650 {source="MONDO:GARD"} @@ -328044,11 +328104,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:391307"} subset: orphanet_rare {source="Orphanet:391307"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, autosomal recessive 39" RELATED [MONDO:Lexical, OMIM:615541] -synonym: "intellectual disability, autosomal recessive type 39" EXACT [MONDORULE:2, OMIM:615541] -synonym: "mental retardation, autosomal recessive 39" RELATED DEPRECATED [MONDO:Lexical, OMIM:615541] -synonym: "mental retardation, autosomal recessive type 39" EXACT DEPRECATED [MONDORULE:2, OMIM:615541] -synonym: "MRT39" RELATED DEPRECATED [MONDO:Lexical, OMIM:615541] +synonym: "intellectual disability, autosomal recessive 39" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 39" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 39" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 39" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT39" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081204 {source="MONDO:equivalentTo"} xref: GARD:17611 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:391307", source="Orphanet:391307/attributed", source="Orphanet:391307/ntbt"} @@ -328067,7 +328127,7 @@ name: testicular anomalies with or without congenital heart disease subset: gard_rare {source="GARD:18360", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "TACHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615542] +synonym: "TACHD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "testicular anomalies with or without congenital heart disease" EXACT [MONDO:Lexical, OMIM:615542] xref: GARD:18360 {source="MONDO:GARD"} xref: MEDGEN:816188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -328087,8 +328147,8 @@ subset: rare synonym: "ERMARD periventricular nodular heterotopia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "periventricular nodular heterotopia 6" EXACT [MONDO:Lexical, OMIM:615544] synonym: "periventricular nodular heterotopia caused by mutation in ERMARD" EXACT [MONDO:design_pattern] -synonym: "periventricular nodular heterotopia type 6" EXACT [MONDORULE:1, OMIM:615544] -synonym: "PVNH6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615544] +synonym: "periventricular nodular heterotopia type 6" EXACT [MONDORULE:1] +synonym: "PVNH6" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:15983 {source="MONDO:GARD"} xref: MEDGEN:816202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615544 {source="MONDO:equivalentTo"} @@ -328107,15 +328167,15 @@ def: "Any precursor B-cell acute lymphoblastic leukemia in which the cause of th subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare -synonym: "ALL3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615545] +synonym: "ALL3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "leukemia, acute lymphoblastic, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:615545] -synonym: "leukemia, acute lymphoblastic, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:615545] +synonym: "leukemia, acute lymphoblastic, susceptibility to, type 3" EXACT [MONDORULE:1] synonym: "PAX5 precursor B-cell acute lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "PAX5 precursor B-cell acute lymphoblastic leukemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "precursor B-cell acute lymphoblastic leukaemia caused by mutation in PAX5" EXACT OMO:0003005 [] synonym: "precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5" EXACT [MONDO:design_pattern] synonym: "susceptibility to acute lymphoblastic leukaemia 3" RELATED OMO:0003005 [] -synonym: "susceptibility to acute lymphoblastic leukemia 3" RELATED [OMIM:615545] +synonym: "susceptibility to acute lymphoblastic leukemia 3" RELATED [] xref: MEDGEN:816204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615545 {source="MONDO:equivalentTo"} xref: Orphanet:99860 {source="OMIM:615545"} @@ -328136,11 +328196,11 @@ subset: gard_rare {source="GARD:15984", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FAT4 van Maldergem syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "VAN Maldergem syndrome 2" RELATED [OMIM:615546] -synonym: "van Maldergem syndrome 2" EXACT [MONDO:Lexical, OMIM:615546] +synonym: "VAN Maldergem syndrome 2" RELATED [] +synonym: "van Maldergem syndrome 2" EXACT [DOID:0080586, MONDO:Lexical, OMIM:615546] synonym: "van Maldergem syndrome caused by mutation in FAT4" EXACT [MONDO:design_pattern] -synonym: "Van Maldergem syndrome type 2" EXACT [MONDORULE:1, OMIM:615546] -synonym: "VMLDS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615546] +synonym: "Van Maldergem syndrome type 2" EXACT [MONDORULE:1] +synonym: "VMLDS2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080586 {source="MONDO:equivalentTo"} xref: GARD:15984 {source="MONDO:GARD"} xref: MEDGEN:816205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -328163,17 +328223,17 @@ subset: ordo_etiological_subtype {source="Orphanet:398069"} subset: orphanet_rare {source="Orphanet:398069"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies" EXACT [MONDO:0008820, OMIM:208080] -synonym: "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies" EXACT DEPRECATED [OMIM:208080] +synonym: "arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies" EXACT [MONDO:0008820] +synonym: "arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies" EXACT DEPRECATED [OMIM:615547] synonym: "Chitayat-Hall syndrome" RELATED [GARD:0010087] synonym: "distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies" RELATED [GARD:0010087] -synonym: "MAGEL2-related Prader-Willi-like syndrome" EXACT [Orphanet:398069] -synonym: "MAGEL2-related PWLS" EXACT [Orphanet:398069] -synonym: "Prader-Willi syndrome due to point mutation" RELATED DEPRECATED [Orphanet:398069] -synonym: "Prader-Willi-like syndrome" RELATED [OMIM:615547] -synonym: "PWS due to a point mutation" RELATED DEPRECATED [Orphanet:398069] -synonym: "Schaaf-Yang syndrome" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615547, Orphanet:398069, PMID:24076603] -synonym: "SHFYNG" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615547] +synonym: "MAGEL2-related Prader-Willi-like syndrome" EXACT [DOID:0111715, Orphanet:398069] +synonym: "MAGEL2-related PWLS" EXACT [DOID:0111715, Orphanet:398069] +synonym: "Prader-Willi syndrome due to point mutation" RELATED DEPRECATED [] +synonym: "Prader-Willi-like syndrome" RELATED [] +synonym: "PWS due to a point mutation" RELATED DEPRECATED [] +synonym: "Schaaf-Yang syndrome" EXACT CLINGEN_LABEL [DOID:0111715, MONDO:Lexical, OMIM:615547, Orphanet:398069, PMID:24076603] +synonym: "SHFYNG" EXACT ABBREVIATION [DOID:0111715, MONDO:Lexical, OMIM:615547] xref: DOID:0111715 {source="MONDO:equivalentTo"} xref: GARD:13316 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:398069", source="Orphanet:398069/attributed", source="Orphanet:398069/ntbt"} @@ -328204,15 +328264,15 @@ subset: rare synonym: "autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A" EXACT [MONDO:design_pattern] synonym: "CIP with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397] synonym: "congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397] -synonym: "hereditary sensory and autonomic neuropathy type VII" EXACT [DOID:0070149, Orphanet:391397] +synonym: "hereditary sensory and autonomic neuropathy type VII" EXACT [DOID:0070149, NCIT:C125388, Orphanet:391397] synonym: "hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397] -synonym: "HSAN 7" RELATED [OMIM:615548] -synonym: "HSAN VII" EXACT [NCIT:C125388] +synonym: "HSAN 7" RELATED [] +synonym: "HSAN VII" EXACT [] synonym: "HSAN with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397] -synonym: "HSAN7" EXACT ABBREVIATION [DOID:0070149, MONDO:Lexical, OMIM:615548, Orphanet:391397] -synonym: "insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis" RELATED [OMIM:615548] -synonym: "neuropathy, hereditary sensory and autonomic, type 7" RELATED [OMIM:615548] -synonym: "neuropathy, hereditary sensory and autonomic, type VII" RELATED [GARD:0012732, MONDO:Lexical, OMIM:615548] +synonym: "HSAN7" EXACT ABBREVIATION [DOID:0070149, MONDO:Lexical, NCIT:C125388, OMIM:615548, Orphanet:391397] +synonym: "insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis" RELATED [] +synonym: "neuropathy, hereditary sensory and autonomic, type 7" RELATED [] +synonym: "neuropathy, hereditary sensory and autonomic, type VII" RELATED [GARD:0012732, MONDO:Lexical] synonym: "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070149 {source="MONDO:equivalentTo"} xref: GARD:12732 {source="MONDO:GARD"} @@ -328233,12 +328293,12 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:15985", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615550] +synonym: "DBA12" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPL15" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 12" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 12" EXACT [MONDO:Lexical, OMIM:615550] +synonym: "Diamond-Blackfan anemia 12" EXACT [DOID:0111882, MONDO:Lexical, OMIM:615550] synonym: "Diamond-Blackfan anemia caused by mutation in RPL15" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 12" EXACT [MONDORULE:2, OMIM:615550] +synonym: "Diamond-Blackfan Anemia type 12" EXACT [MONDORULE:2] synonym: "RPL15 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPL15 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111882 {source="MONDO:equivalentTo"} @@ -328260,9 +328320,9 @@ subset: gard_rare {source="GARD:18440", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "episodic pain syndrome, familial, 2" EXACT [MONDO:Lexical, OMIM:615551] -synonym: "episodic pain syndrome, familial, type 2" EXACT [MONDORULE:1, OMIM:615551] +synonym: "episodic pain syndrome, familial, type 2" EXACT [MONDORULE:1] synonym: "familial episodic pain syndrome caused by mutation in SCN10A" EXACT [MONDO:design_pattern] -synonym: "FEPS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615551] +synonym: "FEPS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SCN10A familial episodic pain syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111730 {source="MONDO:equivalentTo"} xref: GARD:18440 {source="MONDO:GARD"} @@ -328284,9 +328344,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:391392"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "episodic pain syndrome, familial, 3" RELATED [MONDO:Lexical, OMIM:615552] -synonym: "episodic pain syndrome, familial, type 3" EXACT [MONDORULE:1, OMIM:615552] -synonym: "FEPS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615552] +synonym: "episodic pain syndrome, familial, 3" RELATED [MONDO:Lexical] +synonym: "episodic pain syndrome, familial, type 3" EXACT [MONDORULE:1] +synonym: "FEPS3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111731 {source="MONDO:equivalentTo"} xref: GARD:17619 {source="MONDO:GARD"} xref: ICD10CM:M79.6 {source="Orphanet:391392", source="Orphanet:391392/attributed", source="Orphanet:391392/ntbt"} @@ -328310,10 +328370,10 @@ subset: ordo_disorder {source="Orphanet:370943"} subset: orphanet_rare {source="Orphanet:370943"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AMRS" RELATED DEPRECATED [MONDO:Lexical, OMIM:615553] -synonym: "arthrogryposis, impaired intellectual development, and seizures" EXACT [OMIM:615553, OMIM:genemap2] -synonym: "arthrogryposis, intellectual disability, and seizures" RELATED [MONDO:Lexical, OMIM:615553] -synonym: "arthrogryposis, mental retardation, and seizures" RELATED DEPRECATED [MONDO:Lexical, OMIM:615553] +synonym: "AMRS" RELATED DEPRECATED [MONDO:Lexical] +synonym: "arthrogryposis, impaired intellectual development, and seizures" EXACT [OMIM:615553] +synonym: "arthrogryposis, intellectual disability, and seizures" RELATED [MONDO:Lexical] +synonym: "arthrogryposis, mental retardation, and seizures" RELATED DEPRECATED [MONDO:Lexical] synonym: "SLC35A3-CDG" EXACT [Orphanet:370943] xref: GARD:17604 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:370943/attributed", source="Orphanet:370943/ntbt", source="Orphanet:370943"} @@ -328337,9 +328397,9 @@ def: "Mammary polyadenomatosis is characterized by the presence in both breasts subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "mammary polyadenomatosis" EXACT [Orphanet:50920] -synonym: "MFAB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615554] -synonym: "multiple fibroadenomas of the breast" RELATED [MONDO:Lexical, OMIM:615554] +synonym: "mammary polyadenomatosis" EXACT [] +synonym: "MFAB" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "multiple fibroadenomas of the breast" RELATED [MONDO:Lexical] xref: ICD10CM:D24 {source="Orphanet:50920", source="Orphanet:50920/ntbt"} xref: MEDGEN:816248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615554 {source="MONDO:equivalentTo", source="Orphanet:50920", source="Orphanet:50920/e"} @@ -328361,8 +328421,8 @@ subset: rare synonym: "familial hyperprolactinemia" EXACT [Orphanet:397685] synonym: "familial isolated prolactin receptor deficiency" EXACT [Orphanet:397685] synonym: "hereditary hyperprolactinemia (disease)" EXACT [MONDO:patterns/hereditary] -synonym: "HPRL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615555] -synonym: "hyperprolactinemia" RELATED [MONDO:Lexical, OMIM:615555] +synonym: "HPRL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperprolactinemia" RELATED [MONDO:Lexical] xref: GARD:17634 {source="MONDO:GARD"} xref: ICD10CM:E22.1 {source="Orphanet:397685/attributed", source="Orphanet:397685/ntbt", source="MONDO:relatedTo", source="Orphanet:397685"} xref: MEDGEN:1645317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -328379,9 +328439,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014251 name: melioidosis, susceptibility to subset: predisposition -synonym: "melioidosis, resistance to" RELATED [OMIM:615557] +synonym: "melioidosis, resistance to" RELATED [] synonym: "melioidosis, susceptibility to" EXACT [OMIM:615557] -synonym: "susceptibility to melioidosis" RELATED [OMIM:615557] +synonym: "susceptibility to melioidosis" RELATED [] xref: MEDGEN:816255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615557 {source="MONDO:equivalentTo"} xref: Orphanet:31202 {source="OMIM:615557"} @@ -328400,18 +328460,18 @@ subset: gard_rare {source="GARD:2876", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acanthocytosis with hypobetalipoproteinemia" RELATED [OMIM:615558] +synonym: "acanthocytosis with hypobetalipoproteinemia" RELATED [] synonym: "APOB hypobetalipoproteinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "familial hypobetalipoproteinemia 1" EXACT CLINGEN_LABEL [] -synonym: "familial hypobetalipoproteinemia type 1" EXACT [DOID:0111062, MONDORULE:1] +synonym: "familial hypobetalipoproteinemia 1" EXACT CLINGEN_LABEL [DOID:0111062] +synonym: "familial hypobetalipoproteinemia type 1" EXACT [MONDORULE:1] synonym: "FHBL" RELATED ABBREVIATION [GARD:0002876] synonym: "FHBL1" EXACT ABBREVIATION [DOID:0111062, MONDO:Lexical, OMIM:615558] -synonym: "hypobetalipoproteinemia" BROAD [OMIM:615558, OMIM:genemap2] +synonym: "hypobetalipoproteinemia" BROAD [] synonym: "hypobetalipoproteinemia caused by mutation in APOB" EXACT [MONDO:design_pattern] -synonym: "hypobetalipoproteinemia, familial" RELATED [OMIM:615558] -synonym: "hypobetalipoproteinemia, familial, 1" RELATED [MONDO:Lexical, OMIM:615558] -synonym: "hypobetalipoproteinemia, familial, type 1" EXACT [MONDORULE:1, OMIM:615558] -synonym: "hypobetalipoproteinemia, Normotriglyceridemic" RELATED [OMIM:615558] +synonym: "hypobetalipoproteinemia, familial" RELATED [] +synonym: "hypobetalipoproteinemia, familial, 1" RELATED [MONDO:Lexical] +synonym: "hypobetalipoproteinemia, familial, type 1" EXACT [MONDORULE:1] +synonym: "hypobetalipoproteinemia, Normotriglyceridemic" RELATED [] xref: DOID:0111062 {source="MONDO:equivalentTo"} xref: GARD:2876 {source="MONDO:GARD"} xref: MEDGEN:1639219 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -328433,19 +328493,19 @@ id: MONDO:0014253 name: obsolete autoimmune lymphoproliferative syndrome type 3 def: "OBSOLETE. A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39577] comment: This will be obsoleted in the 2022-04-01 release. The term will be split and the new IDs for this term will be MONDO:800023 (Type 3 Autoimmune Lymphoproliferative Syndrome) and MONDO:800024 (autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD). -synonym: "ALPS-U" EXACT [NCIT:C39577] -synonym: "ALPS3" EXACT ABBREVIATION [DOID:0110119, MONDO:Lexical, OMIM:615559] +synonym: "ALPS-U" EXACT [] +synonym: "ALPS3" EXACT ABBREVIATION [MONDO:Lexical] synonym: "autoimmune lymphoproliferative syndrome caused by mutation in PRKCD" EXACT [MONDO:design_pattern] -synonym: "autoimmune lymphoproliferative syndrome type III" EXACT [DOID:0110119] -synonym: "autoimmune lymphoproliferative syndrome, type 3" RELATED [OMIM:615559] -synonym: "autoimmune lymphoproliferative syndrome, type III" RELATED [MONDO:Lexical, OMIM:615559] -synonym: "autoimmune lymphoproliferative syndrome-undetermined variant" EXACT [NCIT:C39577] -synonym: "common variable immunodeficiency 9" EXACT [DOID:0110119] -synonym: "CVID9" EXACT ABBREVIATION [DOID:0110119] -synonym: "immunodeficiency, common variable, 9" RELATED [OMIM:615559] -synonym: "immunodeficiency, common variable, 9, formerly" RELATED [OMIM:615559] +synonym: "autoimmune lymphoproliferative syndrome type III" EXACT [] +synonym: "autoimmune lymphoproliferative syndrome, type 3" RELATED [] +synonym: "autoimmune lymphoproliferative syndrome, type III" RELATED [MONDO:Lexical] +synonym: "autoimmune lymphoproliferative syndrome-undetermined variant" EXACT [] +synonym: "common variable immunodeficiency 9" EXACT [] +synonym: "CVID9" EXACT ABBREVIATION [] +synonym: "immunodeficiency, common variable, 9" RELATED [] +synonym: "immunodeficiency, common variable, 9, formerly" RELATED [] synonym: "PRKCD autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "type 3 ALPS" EXACT [NCIT:C39577] +synonym: "type 3 ALPS" EXACT [] xref: ICD10CM:D47.9 {source="DOID:0110119"} xref: NANDO:2200743 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:3261 {source="OMIM:615559"} @@ -328462,11 +328522,11 @@ def: "Any otofaciocervical syndrome in which the cause of the disease is a mutat subset: gard_rare {source="GARD:16503", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "OFC2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615560] -synonym: "OTFCS2" RELATED ABBREVIATION [OMIM:615560] -synonym: "otofaciocervical syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615560] +synonym: "OFC2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "OTFCS2" RELATED ABBREVIATION [] +synonym: "otofaciocervical syndrome 2" EXACT CLINGEN_LABEL [MONDO:Lexical] synonym: "otofaciocervical syndrome caused by mutation in PAX1" EXACT [MONDO:design_pattern] -synonym: "otofaciocervical syndrome type 2" EXACT [MONDORULE:1, OMIM:615560] +synonym: "otofaciocervical syndrome type 2" EXACT [MONDORULE:1] synonym: "PAX1 otofaciocervical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16503 {source="MONDO:GARD"} xref: MEDGEN:1782278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -328481,8 +328541,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014255 name: complement factor b deficiency -synonym: "CFBD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615561] -synonym: "complement factor B deficiency" RELATED [OMIM:615561] +synonym: "CFBD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "complement factor B deficiency" RELATED [] synonym: "complement factor b deficiency" EXACT [MONDO:Lexical, OMIM:615561] xref: MEDGEN:816280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200797 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -328499,9 +328559,9 @@ subset: gard_rare {source="GARD:15988", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "NEK2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 67" EXACT [MONDO:Lexical, OMIM:615565] +synonym: "retinitis pigmentosa 67" EXACT [DOID:0110359, MONDO:Lexical, OMIM:615565] synonym: "retinitis pigmentosa caused by mutation in NEK2" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 67" EXACT [DOID:0110359, MONDORULE:2, OMIM:615565] +synonym: "retinitis pigmentosa type 67" EXACT [MONDORULE:2] synonym: "RP67" EXACT ABBREVIATION [DOID:0110359, MONDO:Lexical, OMIM:615565] xref: DOID:0110359 {source="MONDO:equivalentTo"} xref: GARD:15988 {source="MONDO:GARD"} @@ -328523,7 +328583,7 @@ subset: rare synonym: "COQ8B nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nephrotic syndrome caused by mutation in COQ8B" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 9" EXACT [MONDO:Lexical, OMIM:615573] -synonym: "NPHS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615573] +synonym: "NPHS9" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080391 {source="MONDO:equivalentTo"} xref: GARD:15989 {source="MONDO:GARD"} xref: MEDGEN:816295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -328547,8 +328607,8 @@ subset: ordo_disorder {source="Orphanet:391376"} subset: orphanet_rare {source="Orphanet:391376"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Asns deficiency" RELATED [OMIM:615574] -synonym: "ASNSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615574] +synonym: "Asns deficiency" RELATED [] +synonym: "ASNSD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "asparagine synthetase deficiency" EXACT [MONDO:Lexical, OMIM:615574, Orphanet:391376] synonym: "congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome" EXACT CLINGEN_LABEL [] xref: GARD:17617 {source="MONDO:GARD"} @@ -328575,12 +328635,12 @@ subset: gard_rare {source="GARD:18265", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FBXO38 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HMN 2D" RELATED [OMIM:615575] -synonym: "HMN2D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615575] +synonym: "HMN 2D" RELATED [] +synonym: "HMN2D" RELATED ABBREVIATION [MONDO:Lexical] synonym: "neuronopathy, distal hereditary motor caused by mutation in FBXO38" EXACT [MONDO:design_pattern] -synonym: "neuronopathy, distal hereditary motor, type IID" RELATED [MONDO:Lexical, OMIM:615575] -synonym: "neuropathy, distal hereditary motor, type 2D" RELATED [OMIM:615575] -synonym: "spinal muscular atrophy, distal, autosomal dominant, calf-predominant" RELATED [OMIM:615575] +synonym: "neuronopathy, distal hereditary motor, type IID" RELATED [MONDO:Lexical] +synonym: "neuropathy, distal hereditary motor, type 2D" RELATED [] +synonym: "spinal muscular atrophy, distal, autosomal dominant, calf-predominant" RELATED [] xref: DOID:0111210 {source="MONDO:equivalentTo"} xref: GARD:18265 {source="MONDO:GARD"} xref: MEDGEN:854832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -328603,11 +328663,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "common variable immunodeficiency caused by mutation in NFKB2" EXACT [MONDO:design_pattern] -synonym: "CVID10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615577] -synonym: "Deficit in anterior pituitary function and variable immunodeficiency" RELATED [OMIM:615577] +synonym: "CVID10" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Deficit in anterior pituitary function and variable immunodeficiency" RELATED [] synonym: "immunodeficiency, common variable, 10" EXACT [MONDO:Lexical, OMIM:615577] -synonym: "immunodeficiency, common variable, type 10" EXACT [MONDORULE:2, OMIM:615577] -synonym: "immunodeficiency, common variable, with central adrenal insufficiency" RELATED [OMIM:615577] +synonym: "immunodeficiency, common variable, type 10" EXACT [MONDORULE:2] +synonym: "immunodeficiency, common variable, with central adrenal insufficiency" RELATED [] synonym: "NFKB2 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081152 {source="MONDO:equivalentTo"} xref: GARD:15990 {source="MONDO:GARD"} @@ -328632,10 +328692,10 @@ subset: ordo_disorder {source="Orphanet:391348"} subset: orphanet_rare {source="Orphanet:391348"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 18" RELATED [MONDO:Lexical, OMIM:615578] +synonym: "combined oxidative phosphorylation deficiency 18" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in SFXN4" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 18" EXACT [MONDORULE:2, OMIM:615578] -synonym: "COXPD18" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615578] +synonym: "combined oxidative phosphorylation deficiency type 18" EXACT [MONDORULE:2] +synonym: "COXPD18" RELATED ABBREVIATION [MONDO:Lexical] synonym: "SFXN4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111484 {source="MONDO:equivalentTo"} xref: GARD:17615 {source="MONDO:GARD"} @@ -328658,9 +328718,9 @@ subset: gard_rare {source="GARD:12356", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LDS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615582] -synonym: "Loeys-Dietz syndrome 5" RELATED [MONDO:Lexical, OMIM:615582] -synonym: "Loeys-Dietz syndrome type 5" EXACT [MONDORULE:1, OMIM:615582] +synonym: "LDS5" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Loeys-Dietz syndrome 5" RELATED [MONDO:Lexical] +synonym: "Loeys-Dietz syndrome type 5" EXACT [MONDORULE:1] synonym: "Rienhoff syndrome" EXACT CLINGEN_LABEL [OMIM:615582] xref: DOID:0070236 {source="MONDO:equivalentTo"} xref: EFO:1000012 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -328687,9 +328747,9 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:508488"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 8Q24.3 deletion syndrome" RELATED [OMIM:615583] -synonym: "Verheij syndrome" EXACT [MONDO:Lexical, OMIM:615583] -synonym: "VRJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615583] +synonym: "chromosome 8Q24.3 deletion syndrome" RELATED [] +synonym: "Verheij syndrome" EXACT [MONDO:Lexical, OMIM:615583, Orphanet:508488] +synonym: "VRJS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:12814 {source="MONDO:GARD"} xref: MEDGEN:816353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615583 {source="MONDO:equivalentTo", source="Orphanet:508488"} @@ -328709,8 +328769,8 @@ id: MONDO:0014264 name: otosclerosis 10 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "otosclerosis 10" EXACT [MONDO:Lexical, OMIM:615589] -synonym: "OTSC10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615589] +synonym: "otosclerosis 10" EXACT [DOID:0060927, MONDO:Lexical, OMIM:615589] +synonym: "OTSC10" EXACT ABBREVIATION [DOID:0060927, MONDO:Lexical, OMIM:615589] xref: DOID:0060927 {source="MONDO:equivalentTo"} xref: MEDGEN:854867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615589 {source="MONDO:equivalentTo"} @@ -328728,12 +328788,12 @@ subset: rare synonym: "AD18" EXACT ABBREVIATION [DOID:0110050, MONDO:Lexical, OMIM:615590] synonym: "ADAM10 Alzheimer disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Alzheimer disease 18" EXACT [DOID:0110050, MONDO:Lexical, OMIM:615590] -synonym: "Alzheimer disease 18, late-onset" RELATED [OMIM:615590] -synonym: "Alzheimer disease 18, susceptibility to" RELATED [OMIM:615590, OMIM:genemap2] +synonym: "Alzheimer disease 18, late-onset" RELATED [] +synonym: "Alzheimer disease 18, susceptibility to" RELATED [] synonym: "Alzheimer disease caused by mutation in ADAM10" EXACT [MONDO:design_pattern] -synonym: "Alzheimer disease type 18" EXACT [MONDORULE:2, OMIM:615590] -synonym: "Alzheimer's disease 18" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 18" EXACT [DOID:0110050, MONDORULE:2] +synonym: "Alzheimer disease type 18" EXACT [MONDORULE:2] +synonym: "Alzheimer's disease 18" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110050, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 18" EXACT [MONDORULE:2] xref: DOID:0110050 {source="MONDO:equivalentTo"} xref: MEDGEN:816371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615590 {source="MONDO:equivalentTo", source="DOID:0110050"} @@ -328749,13 +328809,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014266 name: age related macular degeneration 15 def: "An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the C9 gene." [MONDO:patterns/disease_series_by_gene, MONDO:patterns/inherited_susceptibility] -synonym: "age related macular degeneration type 15" EXACT [DOID:0110027, MONDORULE:2] +synonym: "age related macular degeneration type 15" EXACT [MONDORULE:2] synonym: "age-related macular degeneration caused by mutation in C9" EXACT [MONDO:design_pattern] synonym: "ARMD15" EXACT ABBREVIATION [DOID:0110027, MONDO:Lexical, OMIM:615591] synonym: "C9 age-related macular degeneration" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "macular degeneration, age-related, 15" RELATED [MONDO:Lexical, OMIM:615591] -synonym: "macular degeneration, age-related, 15, susceptibility to" EXACT [OMIM:615591, OMIM:genemap2] -synonym: "macular degeneration, age-related, type 15" EXACT [MONDORULE:2, OMIM:615591] +synonym: "macular degeneration, age-related, 15" RELATED [MONDO:Lexical] +synonym: "macular degeneration, age-related, 15, susceptibility to" EXACT [] +synonym: "macular degeneration, age-related, type 15" EXACT [MONDORULE:2] xref: DOID:0110027 {source="MONDO:equivalentTo"} xref: MEDGEN:816372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615591 {source="DOID:0110027", source="MONDO:equivalentTo"} @@ -328780,10 +328840,10 @@ subset: ordo_disorder {source="Orphanet:397787"} subset: orphanet_rare {source="Orphanet:397787"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615592] -synonym: "immunodeficiency 15" RELATED [MONDO:Lexical, OMIM:615592] -synonym: "immunodeficiency 15B" EXACT [OMIM:615592, OMIM:genemap2] -synonym: "immunodeficiency type 15" EXACT [MONDORULE:2, OMIM:615592] +synonym: "IMD15" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 15" RELATED [MONDO:Lexical] +synonym: "immunodeficiency 15B" EXACT [DOID:0111959, OMIM:615592] +synonym: "immunodeficiency type 15" EXACT [MONDORULE:2] synonym: "SCID due to IKK2 deficiency" EXACT [Orphanet:397787] xref: DOID:0111959 {source="MONDO:equivalentTo"} xref: GARD:17641 {source="MONDO:GARD"} @@ -328808,13 +328868,13 @@ subset: ordo_disorder {source="Orphanet:431149"} subset: orphanet_rare {source="Orphanet:431149"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined immunodeficiency with childhood-onset Kaposi sarcoma" EXACT [Orphanet:431149] -synonym: "combined immunodeficiency with impaired immunity to HHV-8" EXACT [Orphanet:431149] -synonym: "combined immunodeficiency with impaired immunity to human herpes virus 8" EXACT [Orphanet:431149] -synonym: "IMD16" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615593] -synonym: "immunodeficiency 16" RELATED [MONDO:Lexical, OMIM:615593] -synonym: "immunodeficiency type 16" EXACT [MONDORULE:2, OMIM:615593] -synonym: "OX40 deficiency" RELATED [OMIM:615593] +synonym: "combined immunodeficiency with childhood-onset Kaposi sarcoma" EXACT [DOID:0111935, Orphanet:431149] +synonym: "combined immunodeficiency with impaired immunity to HHV-8" EXACT [DOID:0111935, Orphanet:431149] +synonym: "combined immunodeficiency with impaired immunity to human herpes virus 8" EXACT [DOID:0111935, Orphanet:431149] +synonym: "IMD16" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 16" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 16" EXACT [MONDORULE:2] +synonym: "OX40 deficiency" RELATED [] xref: DOID:0111935 {source="MONDO:equivalentTo"} xref: GARD:17710 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:431149", source="Orphanet:431149/attributed", source="Orphanet:431149/ntbt"} @@ -328838,12 +328898,12 @@ subset: gard_rare {source="GARD:18466", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:397593"} subset: orphanet_rare {source="Orphanet:397593"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 19" EXACT [MONDO:Lexical, OMIM:615595] +synonym: "combined oxidative phosphorylation deficiency 19" EXACT [DOID:0111476, MONDO:Lexical, OMIM:615595] synonym: "combined oxidative phosphorylation deficiency caused by mutation in LYRM4" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 19" EXACT [MONDORULE:2, OMIM:615595] -synonym: "COXPD19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615595] +synonym: "combined oxidative phosphorylation deficiency type 19" EXACT [MONDORULE:2] +synonym: "COXPD19" RELATED ABBREVIATION [MONDO:Lexical] synonym: "LYRM4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency" EXACT [Orphanet:397593] +synonym: "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency" EXACT [DOID:0111476, Orphanet:397593] xref: DOID:0111476 {source="MONDO:equivalentTo"} xref: GARD:18466 {source="MONDO:GARD"} xref: MEDGEN:816385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -328865,14 +328925,14 @@ subset: ordo_disorder {source="Orphanet:370921"} subset: orphanet_rare {source="Orphanet:370921"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDG Iw" RELATED [OMIM:615596] +synonym: "CDG Iw" RELATED [] synonym: "CDG syndrome type Iw" EXACT [Orphanet:370921] synonym: "CDG-Iw" EXACT [Orphanet:370921] -synonym: "CDG1W" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615596, Orphanet:370921] +synonym: "CDG1W" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:370921] synonym: "congenital disorder of glycosylation type 1w" EXACT [Orphanet:370921] synonym: "congenital disorder of glycosylation type Iw" EXACT [Orphanet:370921] -synonym: "congenital disorder of glycosylation, type Iw" RELATED [MONDO:Lexical, OMIM:615596] -synonym: "congenital disorder of glycosylation, type Iw, autosomal recessive" EXACT [OMIM:615596, OMIM:genemap2] +synonym: "congenital disorder of glycosylation, type Iw" RELATED [MONDO:Lexical] +synonym: "congenital disorder of glycosylation, type Iw, autosomal recessive" EXACT [OMIM:615596] synonym: "STT3A-CDG" EXACT ABBREVIATION [Orphanet:370921] synonym: "STT3A-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] xref: DOID:0080572 {source="MONDO:equivalentTo"} @@ -328901,13 +328961,13 @@ subset: orphanet_rare {source="Orphanet:370924"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carbohydrate deficient glycoprotein syndrome type IX" EXACT [Orphanet:370924] -synonym: "CDG IX" RELATED [OMIM:615597] +synonym: "CDG IX" RELATED [] synonym: "CDG syndrome type IX" EXACT [Orphanet:370924] synonym: "CDG-Ix" EXACT [Orphanet:370924] synonym: "CDG1X" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615597, Orphanet:370924] synonym: "congenital disorder of glycosylation type 1x" EXACT [Orphanet:370924] synonym: "congenital disorder of glycosylation type IX" EXACT [Orphanet:370924] -synonym: "congenital disorder of glycosylation, type IX" RELATED [MONDO:Lexical, OMIM:615597] +synonym: "congenital disorder of glycosylation, type IX" RELATED [MONDO:Lexical] synonym: "STT3B-CDG" EXACT ABBREVIATION [Orphanet:370924] synonym: "STT3B-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] xref: DOID:0080573 {source="MONDO:equivalentTo"} @@ -328936,9 +328996,9 @@ subset: orphanet_rare {source="Orphanet:140966"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "palmoplantar hyperkeratosis, Nagashima type" EXACT [Orphanet:140966] -synonym: "palmoplantar keratoderma, Nagashima type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615598] +synonym: "palmoplantar keratoderma, Nagashima type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615598, Orphanet:140966] synonym: "PPK, Nagashima type" EXACT [Orphanet:140966] -synonym: "PPKN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615598] +synonym: "PPKN" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070555 {source="MONDO:equivalentTo"} xref: GARD:16967 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:140966/attributed", source="Orphanet:140966/ntbt", source="Orphanet:140966"} @@ -328965,13 +329025,13 @@ subset: ordo_disorder {source="Orphanet:397951"} subset: orphanet_rare {source="Orphanet:397951"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, autosomal recessive 40" EXACT [OMIM:615599, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 40" RELATED [MONDO:Lexical, OMIM:615599] -synonym: "intellectual disability, autosomal recessive type 40" EXACT [MONDORULE:2, OMIM:615599] -synonym: "mental retardation, autosomal recessive 40" RELATED DEPRECATED [MONDO:Lexical, OMIM:615599] -synonym: "mental retardation, autosomal recessive type 40" EXACT DEPRECATED [MONDORULE:2, OMIM:615599] -synonym: "microcephaly-thin corpus callosum-intellectual disability syndrome" EXACT CLINGEN_LABEL [] -synonym: "MRT40" RELATED DEPRECATED [MONDO:Lexical, OMIM:615599] +synonym: "intellectual developmental disorder, autosomal recessive 40" EXACT [OMIM:615599] +synonym: "intellectual disability, autosomal recessive 40" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 40" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 40" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 40" EXACT DEPRECATED [MONDORULE:2] +synonym: "microcephaly-thin corpus callosum-intellectual disability syndrome" EXACT CLINGEN_LABEL [Orphanet:397951] +synonym: "MRT40" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081205 {source="MONDO:equivalentTo"} xref: GARD:17645 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:397951", source="Orphanet:397951/attributed", source="Orphanet:397951/ntbt"} @@ -328995,9 +329055,9 @@ subset: ordo_disorder {source="Orphanet:440731"} subset: orphanet_rare {source="Orphanet:440731"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "L-ferritin deficiency" EXACT [MONDO:Lexical, OMIM:615604] -synonym: "L-ferritin deficiency, dominant and recessive" EXACT [OMIM:615604, OMIM:genemap2] -synonym: "LFTD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615604] +synonym: "L-ferritin deficiency" EXACT [MONDO:Lexical, OMIM:615604, Orphanet:440731] +synonym: "L-ferritin deficiency, dominant and recessive" EXACT [] +synonym: "LFTD" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17748 {source="MONDO:GARD"} xref: MEDGEN:816420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615604 {source="MONDO:equivalentTo", source="Orphanet:440731", source="Orphanet:440731/e"} @@ -329016,10 +329076,10 @@ subset: gard_rare {source="GARD:15991", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "EHHADH Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Fanconi renotubular syndrome 3" EXACT [MONDO:Lexical, OMIM:615605] -synonym: "Fanconi renotubular syndrome type 3" EXACT [MONDORULE:1, OMIM:615605] +synonym: "Fanconi renotubular syndrome 3" EXACT [DOID:0080759, MONDO:Lexical, OMIM:615605] +synonym: "Fanconi renotubular syndrome type 3" EXACT [MONDORULE:1] synonym: "Fanconi syndrome caused by mutation in EHHADH" EXACT [MONDO:design_pattern] -synonym: "FRTS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615605] +synonym: "FRTS3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080759 {source="MONDO:equivalentTo"} xref: GARD:15991 {source="MONDO:GARD"} xref: MEDGEN:816430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329045,14 +329105,14 @@ subset: orphanet_rare {source="Orphanet:169082"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CD3 deficiency" EXACT [GARD:0009521] -synonym: "CD3-gamma deficiency" EXACT [OMIM:615607] -synonym: "CD3gamma deficiency" EXACT [MONDO:0000578] -synonym: "combined immunodeficiency due to CD3gamma deficiency" EXACT CLINGEN_LABEL [] -synonym: "IMD17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615607] -synonym: "immunodeficiency 17" EXACT [MONDO:Lexical, OMIM:615607] -synonym: "immunodeficiency 17, CD3 gamma deficient" EXACT [OMIM:615607, OMIM:genemap2] -synonym: "immunodeficiency type 17" EXACT [MONDORULE:2, OMIM:615607] -synonym: "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive" EXACT [OMIM:615607] +synonym: "CD3-gamma deficiency" EXACT [DOID:0111973, OMIM:615607] +synonym: "CD3gamma deficiency" EXACT [DOID:0060018, MONDO:0000578] +synonym: "combined immunodeficiency due to CD3gamma deficiency" EXACT CLINGEN_LABEL [Orphanet:169082] +synonym: "IMD17" EXACT ABBREVIATION [DOID:0111973, MONDO:Lexical, OMIM:615607] +synonym: "immunodeficiency 17" EXACT [DOID:0111973, MONDO:Lexical, OMIM:615607] +synonym: "immunodeficiency 17, CD3 gamma deficient" EXACT [DOID:0111973] +synonym: "immunodeficiency type 17" EXACT [MONDORULE:2] +synonym: "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive" EXACT [DOID:0111973, OMIM:615607] xref: DOID:0060018 {source="MONDO:equivalentTo"} xref: DOID:0111973 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:17046 {source="MONDO:GARD"} @@ -329076,8 +329136,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9521/cd3-def [Term] id: MONDO:0014277 name: developmental dysplasia of the hip 2 -synonym: "DDH2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615612] -synonym: "developmental dysplasia of the hip 2" EXACT [MONDO:Lexical, OMIM:615612] +synonym: "DDH2" EXACT ABBREVIATION [DOID:0060932, MONDO:Lexical, OMIM:615612] +synonym: "developmental dysplasia of the hip 2" EXACT [DOID:0060932, MONDO:Lexical, OMIM:615612] xref: DOID:0060932 {source="MONDO:equivalentTo"} xref: MEDGEN:811575 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615612 {source="MONDO:equivalentTo"} @@ -329094,12 +329154,12 @@ subset: gard_rare {source="GARD:18295", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CD3-Epsilon deficiency" EXACT [OMIM:615615] -synonym: "IMD18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615615] -synonym: "immunodeficiency 18" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615615] -synonym: "immunodeficiency 18, SCID variant" EXACT [OMIM:615615] -synonym: "immunodeficiency 18, Severe combined immunodeficiency variant" EXACT [OMIM:615615] -synonym: "immunodeficiency type 18" EXACT [MONDORULE:2, OMIM:615615] +synonym: "CD3-Epsilon deficiency" EXACT [DOID:0111971, OMIM:615615] +synonym: "IMD18" EXACT ABBREVIATION [DOID:0111971, MONDO:Lexical, OMIM:615615] +synonym: "immunodeficiency 18" EXACT CLINGEN_LABEL [DOID:0111971, MONDO:Lexical, OMIM:615615] +synonym: "immunodeficiency 18, SCID variant" EXACT [] +synonym: "immunodeficiency 18, Severe combined immunodeficiency variant" EXACT [] +synonym: "immunodeficiency type 18" EXACT [MONDORULE:2] xref: DOID:0060017 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0111971 {source="MONDO:equivalentTo"} xref: GARD:18295 {source="MONDO:GARD"} @@ -329127,16 +329187,16 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18296", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CD3-Delta deficiency" RELATED [OMIM:615617] +synonym: "CD3-Delta deficiency" RELATED [] synonym: "CD3D" EXACT ABBREVIATION [DOID:0060016] synonym: "CD3D severe combined immunodeficiency (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "CD3delta deficiency" EXACT [MONDO:0000576] -synonym: "IMD19" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615617] -synonym: "immunodeficiency 19" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615617] -synonym: "immunodeficiency type 19" EXACT [MONDORULE:2, OMIM:615617] -synonym: "SCID, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:615617] +synonym: "CD3delta deficiency" EXACT [DOID:0060016, MONDO:0000576] +synonym: "IMD19" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 19" EXACT CLINGEN_LABEL [DOID:0111972, MONDO:Lexical] +synonym: "immunodeficiency type 19" EXACT [MONDORULE:2] +synonym: "SCID, T cell-negative, B cell-positive, NK cell-positive" RELATED [] synonym: "severe combined immunodeficiency (disease) caused by mutation in CD3D" EXACT [] -synonym: "severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:615617] +synonym: "severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive" RELATED [] xref: DOID:0060016 {source="MONDO:equivalentTo"} xref: DOID:0111972 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:18296 {source="MONDO:GARD"} @@ -329159,7 +329219,7 @@ name: cholangiocarcinoma, susceptibility to subset: inferred_rare subset: predisposition subset: rare -synonym: "Chlc, susceptibility to" RELATED [OMIM:615619] +synonym: "Chlc, susceptibility to" RELATED [] synonym: "cholangiocarcinoma, susceptibility to" EXACT [OMIM:615619] xref: MEDGEN:816486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615619 {source="MONDO:equivalentTo"} @@ -329182,13 +329242,13 @@ subset: ordo_inheritance_inconsistent subset: orphanet_rare {source="Orphanet:401849"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal spastic paraplegia type 72" EXACT [DOID:0110817] -synonym: "hereditary spastic paraplegia type 72" EXACT [DOID:0110817, MONDORULE:2] +synonym: "autosomal spastic paraplegia type 72" EXACT [DOID:0110817, Orphanet:401849] +synonym: "hereditary spastic paraplegia type 72" EXACT [MONDORULE:2] synonym: "pure hereditary spastic paraplegia caused by mutation in REEP2" EXACT [MONDO:design_pattern] synonym: "REEP2 pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spastic paraplegia 72, autosomal dominant" NARROW [OMIM:615625, OMIM:genemap2] -synonym: "spastic paraplegia 72, autosomal recessive" NARROW [OMIM:615625, OMIM:genemap2] -synonym: "SPG72" EXACT ABBREVIATION [DOID:0110817, OMIM:615625, Orphanet:401849] +synonym: "spastic paraplegia 72, autosomal dominant" NARROW [] +synonym: "spastic paraplegia 72, autosomal recessive" NARROW [] +synonym: "SPG72" EXACT ABBREVIATION [DOID:0110817, Orphanet:401849] xref: DOID:0110817 {source="MONDO:equivalentTo"} xref: GARD:17660 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="DOID:0110817", source="Orphanet:401849/attributed", source="Orphanet:401849/ntbt", source="Orphanet:401849"} @@ -329209,13 +329269,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18137", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 56" NARROW [DOID:0110581] -synonym: "autosomal dominant nonsyndromic deafness 56" NARROW [OMIM:615629] +synonym: "autosomal dominant deafness 56" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 56" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TNC" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 56" NARROW [DOID:0110581, MONDORULE:2] -synonym: "deafness, autosomal dominant 56" NARROW [MONDO:Lexical, OMIM:615629, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 56" NARROW [MONDORULE:2, OMIM:615629] -synonym: "DFNA56" NARROW ABBREVIATION [DOID:0110581, MONDO:Lexical, OMIM:615629] +synonym: "autosomal dominant nonsyndromic deafness type 56" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 56" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 56" NARROW [MONDORULE:2] +synonym: "DFNA56" NARROW ABBREVIATION [MONDO:Lexical] synonym: "TNC autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110581 {source="MONDO:equivalentTo"} xref: GARD:18137 {source="MONDO:GARD"} @@ -329238,7 +329298,7 @@ subset: gard_rare {source="GARD:15993", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "short-rib thoracic dysplasia 10 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:615630] +synonym: "short-rib thoracic dysplasia 10 with or without polydactyly" EXACT [DOID:0110091, MONDO:Lexical, OMIM:615630] synonym: "SRTD10" EXACT ABBREVIATION [DOID:0110091, MONDO:Lexical, OMIM:615630] xref: DOID:0110091 {source="MONDO:equivalentTo"} xref: GARD:15993 {source="MONDO:GARD"} @@ -329259,10 +329319,10 @@ subset: gard_rare {source="GARD:15994", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "anemia, congenital dyserythropoietic, type IB" EXACT [MONDO:Lexical, OMIM:615631] -synonym: "CDA, type IB" RELATED [OMIM:615631] -synonym: "CDAN1B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615631] +synonym: "CDA, type IB" RELATED [] +synonym: "CDAN1B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "congenital dyserythropoietic anemia type type 1B" EXACT CLINGEN_LABEL [] -synonym: "dyserythropoietic anemia, congenital, type IB" EXACT [OMIM:615631, OMIM:genemap2] +synonym: "dyserythropoietic anemia, congenital, type IB" EXACT [] xref: DOID:0111397 {source="MONDO:equivalentTo"} xref: GARD:15994 {source="MONDO:GARD"} xref: MEDGEN:816515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329287,12 +329347,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ATL3 hereditary sensory and autonomic neuropathy type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3" EXACT [MONDO:design_pattern] -synonym: "hereditary sensory neuropathy type 1F" RELATED [DOID:0070154] +synonym: "hereditary sensory neuropathy type 1F" RELATED [] synonym: "hereditary sensory neuropathy type IF" EXACT [DOID:0070154] -synonym: "HSN 1F" RELATED [OMIM:615632] +synonym: "HSN 1F" RELATED [] synonym: "HSN1F" EXACT ABBREVIATION [DOID:0070154, MONDO:Lexical, OMIM:615632] -synonym: "neuropathy, hereditary sensory, type 1F" EXACT CLINGEN_LABEL [] -synonym: "neuropathy, hereditary sensory, type IF" RELATED [MONDO:Lexical, OMIM:615632] +synonym: "neuropathy, hereditary sensory, type 1F" EXACT CLINGEN_LABEL [OMIM:615632] +synonym: "neuropathy, hereditary sensory, type IF" RELATED [MONDO:Lexical] xref: DOID:0070154 {source="MONDO:equivalentTo"} xref: GARD:15995 {source="MONDO:GARD"} xref: MEDGEN:816524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329312,7 +329372,7 @@ def: "An asphyxiating thoracic dystrophy that has material basis in homozygous o subset: gard_rare {source="GARD:15996", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "short-rib thoracic dysplasia 11 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:615633] +synonym: "short-rib thoracic dysplasia 11 with or without polydactyly" EXACT [DOID:0110095, MONDO:Lexical, OMIM:615633] synonym: "SRTD11" EXACT ABBREVIATION [DOID:0110095, MONDO:Lexical, OMIM:615633] xref: DOID:0110095 {source="MONDO:equivalentTo"} xref: GARD:15996 {source="MONDO:GARD"} @@ -329336,9 +329396,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CSPP1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS21" EXACT ABBREVIATION [DOID:0110990, MONDO:Lexical, OMIM:615636] -synonym: "Joubert syndrome 21" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615636] +synonym: "Joubert syndrome 21" EXACT CLINGEN_LABEL [DOID:0110990, MONDO:Lexical, OMIM:615636] synonym: "Joubert syndrome caused by mutation in CSPP1" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 21" EXACT [DOID:0110990, MONDORULE:2, OMIM:615636] +synonym: "Joubert syndrome type 21" EXACT [MONDORULE:2] xref: DOID:0110990 {source="MONDO:equivalentTo"} xref: GARD:15997 {source="MONDO:GARD"} xref: MEDGEN:816542 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329364,11 +329424,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:397612"} subset: orphanet_rare {source="Orphanet:397612"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, autosomal recessive 41" RELATED [MONDO:Lexical, OMIM:615637] -synonym: "intellectual disability, autosomal recessive type 41" EXACT [MONDORULE:2, OMIM:615637] -synonym: "mental retardation, autosomal recessive 41" RELATED DEPRECATED [MONDO:Lexical, OMIM:615637] -synonym: "mental retardation, autosomal recessive type 41" EXACT DEPRECATED [MONDORULE:2, OMIM:615637] -synonym: "MRT41" RELATED DEPRECATED [MONDO:Lexical, OMIM:615637] +synonym: "intellectual disability, autosomal recessive 41" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 41" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 41" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 41" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT41" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081206 {source="MONDO:equivalentTo"} xref: GARD:17630 {source="MONDO:GARD"} xref: ICD10CM:Q75.3 {source="Orphanet:397612", source="Orphanet:397612/attributed", source="Orphanet:397612/ntbt"} @@ -329392,13 +329452,13 @@ subset: orphanet_rare {source="Orphanet:397725"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "COASY neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "COASY protein-associated neurodegeneration" RELATED [Orphanet:397725] -synonym: "CoPAN" EXACT [DOID:0110740, Orphanet:397725] +synonym: "COASY protein-associated neurodegeneration" RELATED [] +synonym: "CoPAN" EXACT ABBREVIATION [DOID:0110740, Orphanet:397725] synonym: "NBIA6" EXACT ABBREVIATION [DOID:0110740, MONDO:Lexical, OMIM:615643, Orphanet:397725] -synonym: "neurodegeneration with brain iron accumulation 6" EXACT [MONDO:Lexical, OMIM:615643] +synonym: "neurodegeneration with brain iron accumulation 6" EXACT [DOID:0110740, MONDO:Lexical, OMIM:615643] synonym: "neurodegeneration with brain iron accumulation caused by mutation in COASY" EXACT [MONDO:design_pattern] synonym: "neurodegeneration with brain iron accumulation due to COASY mutation" EXACT [DOID:0110740, Orphanet:397725] -synonym: "neurodegeneration with brain iron accumulation type 6" EXACT [DOID:0110740, MONDORULE:1, OMIM:615643] +synonym: "neurodegeneration with brain iron accumulation type 6" EXACT [MONDORULE:1] xref: DOID:0110740 {source="MONDO:equivalentTo"} xref: GARD:12571 {source="MONDO:GARD"} xref: ICD10CM:G23.0 {source="Orphanet:397725", source="Orphanet:397725/attributed", source="Orphanet:397725/ntbt", source="DOID:0110740"} @@ -329419,11 +329479,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18138", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 54" NARROW [DOID:0110580] -synonym: "autosomal dominant nonsyndromic deafness 54" NARROW [OMIM:615649] -synonym: "autosomal dominant nonsyndromic deafness type 54" NARROW [DOID:0110580, MONDORULE:2] -synonym: "deafness, autosomal dominant 54" NARROW [MONDO:Lexical, OMIM:615649, OMIM:genemap2] -synonym: "DFNA54" NARROW ABBREVIATION [DOID:0110580, MONDO:Lexical, OMIM:615649] +synonym: "autosomal dominant deafness 54" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 54" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 54" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 54" NARROW [MONDO:Lexical] +synonym: "DFNA54" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110580 {source="MONDO:equivalentTo"} xref: GARD:18138 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110580"} @@ -329443,8 +329503,8 @@ subset: ordo_disorder {source="Orphanet:363540"} subset: orphanet_rare {source="Orphanet:363540"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "leukoencephalopathy with ataxia" RELATED [MONDO:Lexical, OMIM:615651] -synonym: "LKPAT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615651] +synonym: "leukoencephalopathy with ataxia" RELATED [MONDO:Lexical] +synonym: "LKPAT" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17565 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:363540", source="Orphanet:363540/attributed", source="Orphanet:363540/ntbt"} xref: MEDGEN:1638681 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329463,11 +329523,11 @@ def: "An autosomal dominant nonsyndromic deafness that has material basis in var subset: gard_rare {source="GARD:18139", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 58" NARROW [DOID:0110582] -synonym: "autosomal dominant nonsyndromic deafness 58" NARROW [OMIM:615654] -synonym: "autosomal dominant nonsyndromic deafness type 58" NARROW [DOID:0110582, MONDORULE:2] -synonym: "deafness, autosomal dominant 58" NARROW [MONDO:Lexical, OMIM:615654, OMIM:genemap2] -synonym: "DFNA58" NARROW ABBREVIATION [DOID:0110582, MONDO:Lexical, OMIM:615654] +synonym: "autosomal dominant deafness 58" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 58" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness type 58" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 58" NARROW [MONDO:Lexical] +synonym: "DFNA58" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110582 {source="MONDO:equivalentTo"} xref: GARD:18139 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110582"} @@ -329491,9 +329551,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "15q11.2 BP1-BP2 microdeletion syndrome" EXACT [Orphanet:261183] synonym: "15q11.2 microdeletion" RELATED [GARD:0010525] -synonym: "15q11.2 microdeletion syndrome" EXACT [DOID:0060393] +synonym: "15q11.2 microdeletion syndrome" EXACT [DOID:0060393, Orphanet:261183] synonym: "chromosome 15q11.2 deletion" RELATED [GARD:0010525] -synonym: "chromosome 15q11.2 deletion syndrome" EXACT [OMIM:615656] +synonym: "chromosome 15q11.2 deletion syndrome" EXACT [DOID:0060393, OMIM:615656] synonym: "chromosome 15q11.2 microdeletion" RELATED [GARD:0010525] synonym: "Del(15)(q11.2)" EXACT [Orphanet:261183] synonym: "monosomy 15q11.2" EXACT [Orphanet:261183] @@ -329521,10 +329581,10 @@ subset: ordo_disorder {source="Orphanet:431329"} subset: orphanet_rare {source="Orphanet:431329"} subset: rare synonym: "autosomal recessive spastic paraplegia 57" EXACT [DOID:0110809] -synonym: "autosomal recessive spastic paraplegia type 57" EXACT [DOID:0110809] +synonym: "autosomal recessive spastic paraplegia type 57" EXACT [DOID:0110809, Orphanet:431329] synonym: "hereditary spastic paraplegia caused by mutation in TFG" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 57" EXACT [DOID:0110809, MONDORULE:2] -synonym: "spastic paraplegia 57, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615658] +synonym: "hereditary spastic paraplegia type 57" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 57, autosomal recessive" RELATED [MONDO:Lexical] synonym: "spastic paraplegia due to partial TFG deficiency" EXACT [Orphanet:431329] synonym: "SPG57" EXACT ABBREVIATION [DOID:0110809, MONDO:Lexical, OMIM:615658, Orphanet:431329] synonym: "TFG hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -329553,10 +329613,10 @@ subset: rare synonym: "micro syndrome 4" EXACT [DOID:0110719] synonym: "TBC1D20 Warburg micro syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WARBM4" EXACT ABBREVIATION [DOID:0110719, MONDO:Lexical, OMIM:615663] -synonym: "WARBURG micro syndrome 4" RELATED [OMIM:615663] -synonym: "Warburg micro syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615663] +synonym: "WARBURG micro syndrome 4" RELATED [] +synonym: "Warburg micro syndrome 4" EXACT CLINGEN_LABEL [DOID:0110719, MONDO:Lexical, OMIM:615663] synonym: "Warburg micro syndrome caused by mutation in TBC1D20" EXACT [MONDO:design_pattern] -synonym: "Warburg micro syndrome type 4" EXACT [DOID:0110719, MONDORULE:1, OMIM:615663] +synonym: "Warburg micro syndrome type 4" EXACT [MONDORULE:1] xref: DOID:0110719 {source="MONDO:equivalentTo"} xref: GARD:15998 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="DOID:0110719"} @@ -329578,9 +329638,9 @@ subset: gard_rare {source="GARD:15999", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS22" EXACT ABBREVIATION [DOID:0110991, MONDO:Lexical, OMIM:615665] -synonym: "Joubert syndrome 22" EXACT [MONDO:Lexical, OMIM:615665] +synonym: "Joubert syndrome 22" EXACT [DOID:0110991, MONDO:Lexical, OMIM:615665] synonym: "Joubert syndrome caused by mutation in PDE6D" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 22" EXACT [DOID:0110991, MONDORULE:2, OMIM:615665] +synonym: "Joubert syndrome type 22" EXACT [MONDORULE:2] synonym: "PDE6D Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110991 {source="MONDO:equivalentTo"} xref: GARD:15999 {source="MONDO:GARD"} @@ -329603,8 +329663,8 @@ subset: ordo_disorder {source="Orphanet:439822"} subset: ordo_malformation_syndrome {source="Orphanet:439822"} subset: orphanet_rare {source="Orphanet:439822"} subset: rare -synonym: "chromosome 5q12 deletion syndrome" EXACT [OMIM:615668] -synonym: "PDE4D haploinsufficiency syndrome" RELATED [Orphanet:439822] +synonym: "chromosome 5q12 deletion syndrome" EXACT [DOID:0060421, OMIM:615668] +synonym: "PDE4D haploinsufficiency syndrome" RELATED [] xref: DOID:0060421 {source="MONDO:equivalentTo"} xref: GARD:17742 {source="MONDO:GARD"} xref: MEDGEN:816612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329626,10 +329686,10 @@ name: LZTR1-related schwannomatosis subset: gard_rare {source="GARD:16000", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "schwannomatosis 2" EXACT [MONDO:Lexical, OMIM:615670] -synonym: "Schwannomatosis type 2" EXACT [MONDORULE:1, OMIM:615670] -synonym: "schwannomatosis-2, susceptibility to" RELATED [OMIM:615670, OMIM:genemap2] -synonym: "SWNTS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615670] +synonym: "schwannomatosis 2" EXACT [DOID:0070481, MONDO:Lexical, OMIM:615670] +synonym: "Schwannomatosis type 2" EXACT [MONDORULE:1] +synonym: "schwannomatosis-2, susceptibility to" RELATED [] +synonym: "SWNTS2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070481 {source="MONDO:equivalentTo"} xref: GARD:16000 {source="MONDO:GARD"} xref: MEDGEN:816613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329652,8 +329712,8 @@ subset: ordo_disorder {source="Orphanet:401768"} subset: orphanet_rare {source="Orphanet:401768"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MPXPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615673] -synonym: "myopathy with extrapyramidal signs" RELATED [MONDO:Lexical, OMIM:615673] +synonym: "MPXPS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myopathy with extrapyramidal signs" RELATED [MONDO:Lexical] xref: DOID:0111335 {source="MONDO:equivalentTo"} xref: GARD:12978 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:401768", source="Orphanet:401768/attributed", source="Orphanet:401768/ntbt"} @@ -329673,7 +329733,7 @@ subset: gard_rare {source="GARD:16001", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DDD3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615674] -synonym: "Dowling-Degos disease 3" RELATED [MONDO:Lexical, OMIM:615674] +synonym: "Dowling-Degos disease 3" RELATED [MONDO:Lexical] xref: GARD:16001 {source="MONDO:GARD"} xref: MEDGEN:816616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615674 {source="MONDO:equivalentTo"} @@ -329694,9 +329754,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 62" EXACT [DOID:0110813] -synonym: "autosomal recessive spastic paraplegia type 62" EXACT [DOID:0110813] +synonym: "autosomal recessive spastic paraplegia type 62" EXACT [DOID:0110813, Orphanet:401785] synonym: "ERLIN1 autosomal recessive pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia type 62" EXACT [DOID:0110813, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 62" EXACT [MONDORULE:2] synonym: "spastic paraplegia 62, autosomal recessive" EXACT [OMIM:615681] synonym: "SPG62" EXACT ABBREVIATION [DOID:0110813, OMIM:615681, Orphanet:401785] xref: DOID:0110813 {source="MONDO:equivalentTo"} @@ -329724,10 +329784,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 64" EXACT [DOID:0110815] -synonym: "autosomal recessive spastic paraplegia type 64" EXACT [DOID:0110815] +synonym: "autosomal recessive spastic paraplegia type 64" EXACT [DOID:0110815, Orphanet:401810] synonym: "ENTPD1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia type 64" EXACT [DOID:0110815, MONDORULE:2] -synonym: "spastic paraplegia 64, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615683] +synonym: "hereditary spastic paraplegia type 64" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 64, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG64" EXACT ABBREVIATION [DOID:0110815, MONDO:Lexical, OMIM:615683, Orphanet:401810] xref: DOID:0110815 {source="MONDO:equivalentTo"} xref: GARD:17659 {source="MONDO:GARD"} @@ -329755,10 +329815,10 @@ subset: rare synonym: "ARL6IP1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 61" EXACT [DOID:0110812] -synonym: "autosomal recessive spastic paraplegia type 61" EXACT [DOID:0110812] -synonym: "hereditary spastic paraplegia 61" EXACT CLINGEN_LABEL [] -synonym: "hereditary spastic paraplegia type 61" EXACT [DOID:0110812, MONDORULE:2] -synonym: "spastic paraplegia 61, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615685] +synonym: "autosomal recessive spastic paraplegia type 61" EXACT [DOID:0110812, Orphanet:401780] +synonym: "hereditary spastic paraplegia 61" EXACT CLINGEN_LABEL [DOID:0110812] +synonym: "hereditary spastic paraplegia type 61" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 61, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG61" EXACT ABBREVIATION [DOID:0110812, MONDO:Lexical, OMIM:615685, Orphanet:401780] xref: DOID:0110812 {source="MONDO:equivalentTo"} xref: GARD:17656 {source="MONDO:GARD"} @@ -329786,10 +329846,10 @@ subset: rare synonym: "AMPD2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive complex spastic paraplegia caused by mutation in AMPD2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 63" EXACT [DOID:0110814] -synonym: "autosomal recessive spastic paraplegia type 63" RELATED [Orphanet:401805] -synonym: "hereditary spastic paraplegia type 63" EXACT [DOID:0110814, MONDORULE:2] +synonym: "autosomal recessive spastic paraplegia type 63" RELATED [] +synonym: "hereditary spastic paraplegia type 63" EXACT [MONDORULE:2] synonym: "spastic paraplegia 63" EXACT [DOID:0110814] -synonym: "spastic paraplegia 63, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615686] +synonym: "spastic paraplegia 63, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG63" EXACT ABBREVIATION [DOID:0110814, MONDO:Lexical, OMIM:615686, Orphanet:401805] xref: DOID:0110814 {source="MONDO:equivalentTo"} xref: GARD:17658 {source="MONDO:GARD"} @@ -329814,14 +329874,14 @@ subset: ordo_disorder {source="Orphanet:404553"} subset: orphanet_rare {source="Orphanet:404553"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADA2 deficiency" EXACT [OMIM:615688] -synonym: "adenosine deaminase 2 deficiency" EXACT [GARD:0012383] +synonym: "ADA2 deficiency" EXACT [] +synonym: "adenosine deaminase 2 deficiency" EXACT [GARD:0012383, OMIM:615688, Orphanet:404553] synonym: "childhood-onset polyarteritis nodosa" EXACT [GARD:0012383] -synonym: "DADA2" EXACT ABBREVIATION [GARD:0012383] -synonym: "PAN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615688] +synonym: "DADA2" EXACT ABBREVIATION [GARD:0012383, Orphanet:404553] +synonym: "PAN" RELATED ABBREVIATION [MONDO:Lexical] synonym: "polyarteritis nodosa, childhood-onset" EXACT [MONDO:Lexical, OMIM:615688] synonym: "vasculitis due to DADA2" EXACT [Orphanet:404553] -synonym: "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" EXACT [OMIM:615688, OMIM:genemap2] +synonym: "vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome" EXACT [OMIM:615688] xref: GARD:12383 {source="MONDO:GARD"} xref: ICD10CM:M30.8 {source="Orphanet:404553/attributed", source="Orphanet:404553/ntbt", source="Orphanet:404553"} xref: MEDGEN:854497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329849,10 +329909,10 @@ def: "Any Dowling-Degos disease in which the cause of the disease is a mutation subset: gard_rare {source="GARD:16002", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DDD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615696] +synonym: "DDD4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Dowling-Degos disease 4" EXACT [MONDO:Lexical, OMIM:615696] synonym: "Dowling-Degos disease caused by mutation in POGLUT1" EXACT [MONDO:design_pattern] -synonym: "Dowling-Degos disease type 4" EXACT [MONDORULE:1, OMIM:615696] +synonym: "Dowling-Degos disease type 4" EXACT [MONDORULE:1] synonym: "POGLUT1 Dowling-Degos disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16002 {source="MONDO:GARD"} xref: MEDGEN:816643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329873,9 +329933,9 @@ comment: Editor note: TODO subset: gard_rare {source="GARD:18281", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "epilepsy, familial temporal lobe, 6" RELATED [MONDO:Lexical, OMIM:615697] +synonym: "epilepsy, familial temporal lobe, 6" RELATED [MONDO:Lexical] synonym: "ETL6" EXACT ABBREVIATION [DOID:0060749, MONDO:Lexical, OMIM:615697] -synonym: "familial temporal lobe epilepsy type 6" EXACT [DOID:0060749, MONDORULE:1] +synonym: "familial temporal lobe epilepsy type 6" EXACT [MONDORULE:1] xref: DOID:0060749 {source="MONDO:equivalentTo"} xref: GARD:18281 {source="MONDO:GARD"} xref: MEDGEN:816650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329892,8 +329952,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:397615"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "morbid obesity and spermatogenic failure" RELATED [MONDO:Lexical, OMIM:615703] -synonym: "MOSPGF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615703] +synonym: "morbid obesity and spermatogenic failure" RELATED [MONDO:Lexical] +synonym: "MOSPGF" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17631 {source="MONDO:GARD"} xref: ICD10CM:E66.8 {source="Orphanet:397615", source="Orphanet:397615/attributed", source="Orphanet:397615/ntbt"} xref: MEDGEN:816654 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -329915,10 +329975,10 @@ subset: orphanet_rare {source="Orphanet:221043"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis" RELATED [GARD:0013218] -synonym: "hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome" RELATED [Orphanet:221043] -synonym: "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" RELATED [MONDO:Lexical, OMIM:615704] -synonym: "poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement" RELATED [OMIM:615704] -synonym: "POIKTMP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615704] +synonym: "hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome" RELATED [] +synonym: "poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" RELATED [MONDO:Lexical] +synonym: "poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement" RELATED [] +synonym: "POIKTMP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "POIKTMP syndrome" EXACT [Orphanet:221043] xref: GARD:13218 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:221043", source="Orphanet:221043/attributed", source="Orphanet:221043/ntbt"} @@ -329942,16 +330002,16 @@ subset: orphanet_rare {source="Orphanet:404499"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN" EXACT [] -synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency" RELATED [Orphanet:404499] +synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to KIAA0226 deficiency" RELATED [] synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency" RELATED [Orphanet:404499] -synonym: "autosomal recessive spinocerebellar ataxia type 15" EXACT [DOID:0080057, MONDORULE:2, Orphanet:404499] +synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency" RELATED [] +synonym: "autosomal recessive spinocerebellar ataxia type 15" EXACT [MONDORULE:2, Orphanet:404499] synonym: "RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Salih ataxia" RELATED [OMIM:615705] -synonym: "SCAR15" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615705, Orphanet:404499] -synonym: "spinocerebellar ataxia, autosomal recessive 15" RELATED [MONDO:Lexical, OMIM:615705] -synonym: "spinocerebellar ataxia, autosomal recessive type 15" EXACT [MONDORULE:2, OMIM:615705] +synonym: "Salih ataxia" RELATED [] +synonym: "SCAR15" EXACT ABBREVIATION [DOID:0080057, MONDO:Lexical, OMIM:615705, Orphanet:404499] +synonym: "spinocerebellar ataxia, autosomal recessive 15" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 15" EXACT [MONDORULE:2] xref: DOID:0080057 {source="MONDO:equivalentTo"} xref: GARD:17678 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:404499/attributed", source="Orphanet:404499/ntbt", source="Orphanet:404499"} @@ -329970,10 +330030,10 @@ name: auriculocondylar syndrome 3 subset: gard_rare {source="GARD:16003", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ARCND3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615706] -synonym: "AURICULOCONDYLAR syndrome 3" RELATED [OMIM:615706] +synonym: "ARCND3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "AURICULOCONDYLAR syndrome 3" RELATED [] synonym: "Auriculocondylar syndrome 3" EXACT [MONDO:Lexical, OMIM:615706] -synonym: "Auriculocondylar syndrome type 3" EXACT [MONDORULE:1, OMIM:615706] +synonym: "Auriculocondylar syndrome type 3" EXACT [MONDORULE:1] xref: GARD:16003 {source="MONDO:GARD"} xref: MEDGEN:816662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615706 {source="MONDO:equivalentTo"} @@ -329992,11 +330052,11 @@ subset: ordo_disorder {source="Orphanet:437552"} subset: orphanet_rare {source="Orphanet:437552"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" EXACT [Orphanet:437552] -synonym: "CD16 deficiency" EXACT [Orphanet:437552] -synonym: "IMD20" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615707] -synonym: "immunodeficiency 20" RELATED [MONDO:Lexical, OMIM:615707] -synonym: "immunodeficiency type 20" EXACT [MONDORULE:2, OMIM:615707] +synonym: "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" EXACT [DOID:0111941, Orphanet:437552] +synonym: "CD16 deficiency" EXACT [DOID:0111941, Orphanet:437552] +synonym: "IMD20" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 20" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 20" EXACT [MONDORULE:2] xref: DOID:0111941 {source="MONDO:equivalentTo"} xref: GARD:17732 {source="MONDO:GARD"} xref: ICD10CM:D84.8 {source="Orphanet:437552/attributed", source="Orphanet:437552/ntbt", source="Orphanet:437552"} @@ -330021,8 +330081,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:397927"} subset: orphanet_rare {source="Orphanet:397927"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "sacral agenesis with vertebral anomalies" RELATED [MONDO:Lexical, OMIM:615709] -synonym: "SAVA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615709] +synonym: "sacral agenesis with vertebral anomalies" RELATED [MONDO:Lexical] +synonym: "SAVA" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17642 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:397927/attributed", source="Orphanet:397927/ntbt", source="Orphanet:397927"} xref: MEDGEN:816673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330049,11 +330109,11 @@ subset: rare synonym: "AD19" EXACT ABBREVIATION [DOID:0110051, MONDO:Lexical, OMIM:615711] synonym: "Alzheimer disease 19" EXACT [DOID:0110051, MONDO:Lexical, OMIM:615711] synonym: "Alzheimer disease 19 late onset" EXACT [DOID:0110051] -synonym: "Alzheimer disease 19, late-onset" RELATED [OMIM:615711] +synonym: "Alzheimer disease 19, late-onset" RELATED [] synonym: "Alzheimer disease caused by mutation in PLD3" EXACT [MONDO:design_pattern] -synonym: "Alzheimer disease type 19" EXACT [MONDORULE:2, OMIM:615711] -synonym: "Alzheimer's disease 19" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Alzheimer's disease type 19" EXACT [DOID:0110051, MONDORULE:2] +synonym: "Alzheimer disease type 19" EXACT [MONDORULE:2] +synonym: "Alzheimer's disease 19" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0110051, MONDO:LexicalVariant] +synonym: "Alzheimer's disease type 19" EXACT [MONDORULE:2] synonym: "PLD3 Alzheimer disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110051 {source="MONDO:equivalentTo"} xref: MEDGEN:816679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330074,10 +330134,10 @@ subset: ordo_disorder {source="Orphanet:401764"} subset: orphanet_rare {source="Orphanet:401764"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BMFS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615715] -synonym: "bone marrow failure syndrome 2" RELATED [MONDO:Lexical, OMIM:615715] -synonym: "bone marrow failure syndrome type 2" EXACT [MONDORULE:1, OMIM:615715] -synonym: "pancytopenia-developmental delay syndrome" EXACT CLINGEN_LABEL [] +synonym: "BMFS2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "bone marrow failure syndrome 2" RELATED [MONDO:Lexical] +synonym: "bone marrow failure syndrome type 2" EXACT [MONDORULE:1] +synonym: "pancytopenia-developmental delay syndrome" EXACT CLINGEN_LABEL [Orphanet:401764] synonym: "Trilineage bone marrow failure-developmental delay syndrome" EXACT [Orphanet:401764] xref: GARD:17655 {source="MONDO:GARD"} xref: ICD10CM:D61.0 {source="Orphanet:401764/attributed", source="Orphanet:401764/ntbt", source="Orphanet:401764"} @@ -330097,12 +330157,12 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18352", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "glycosylphosphatidylinositol biosynthesis defect 10" RELATED [OMIM:615716] -synonym: "HPMRS4" RELATED DEPRECATED [MONDO:Lexical, OMIM:615716] -synonym: "hyperphosphatasia with intellectual disability syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615716] -synonym: "hyperphosphatasia with intellectual disability syndrome type 4" EXACT [MONDORULE:1, OMIM:615716] +synonym: "glycosylphosphatidylinositol biosynthesis defect 10" RELATED [] +synonym: "HPMRS4" RELATED DEPRECATED [MONDO:Lexical] +synonym: "hyperphosphatasia with intellectual disability syndrome 4" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "hyperphosphatasia with intellectual disability syndrome type 4" EXACT [MONDORULE:1] synonym: "hyperphosphatasia with mental retardation syndrome 4" EXACT DEPRECATED [MONDO:Lexical, OMIM:615716] -synonym: "hyperphosphatasia with mental retardation syndrome type 4" EXACT DEPRECATED [MONDORULE:1, OMIM:615716] +synonym: "hyperphosphatasia with mental retardation syndrome type 4" EXACT DEPRECATED [MONDORULE:1] synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3" EXACT [MONDO:design_pattern] synonym: "PGAP3 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070436 {source="MONDO:equivalentTo"} @@ -330127,8 +330187,8 @@ subset: rare synonym: "FGF20 renal agenesis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "renal agenesis (disease) caused by mutation in FGF20" EXACT [] synonym: "renal hypodysplasia/aplasia 2" EXACT [MONDO:Lexical, OMIM:615721] -synonym: "renal hypodysplasia/aplasia type 2" EXACT [MONDORULE:1, OMIM:615721] -synonym: "RHDA2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615721] +synonym: "renal hypodysplasia/aplasia type 2" EXACT [MONDORULE:1] +synonym: "RHDA2" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:816689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615721 {source="MONDO:equivalentTo"} xref: Orphanet:411709 {source="OMIM:615721"} @@ -330149,9 +330209,9 @@ subset: ordo_disorder {source="Orphanet:401777"} subset: orphanet_rare {source="Orphanet:401777"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BBSOAS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615722] -synonym: "Bosch-Boonstra-Schaaf optic atrophy syndrome" EXACT CLINGEN_LABEL [] -synonym: "optic atrophy-intellectual disability syndrome" EXACT [Orphanet:401777] +synonym: "BBSOAS" EXACT ABBREVIATION [DOID:0112226, MONDO:Lexical, OMIM:615722, Orphanet:401777] +synonym: "Bosch-Boonstra-Schaaf optic atrophy syndrome" EXACT CLINGEN_LABEL [DOID:0112226, OMIM:615722, Orphanet:401777] +synonym: "optic atrophy-intellectual disability syndrome" EXACT [DOID:0112226, Orphanet:401777] xref: DOID:0112226 {source="MONDO:equivalentTo"} xref: GARD:12903 {source="MONDO:GARD"} xref: ICD10CM:H47.2 {source="Orphanet:401777/attributed", source="Orphanet:401777/ntbt", source="MONDO:relatedTo", source="Orphanet:401777"} @@ -330172,9 +330232,9 @@ def: "Any primary ovarian failure in which the cause of the disease is a mutatio subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "POF8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615723] +synonym: "POF8" RELATED ABBREVIATION [MONDO:Lexical] synonym: "premature ovarian failure 8" EXACT [MONDO:Lexical, OMIM:615723] -synonym: "premature ovarian failure type 8" EXACT [MONDORULE:1, OMIM:615723] +synonym: "premature ovarian failure type 8" EXACT [MONDORULE:1] synonym: "primary ovarian failure caused by mutation in STAG3" EXACT [MONDO:design_pattern] synonym: "STAG3 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080865 {source="MONDO:equivalentTo"} @@ -330196,9 +330256,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "HFM1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Pof9" RELATED [MONDO:Lexical, OMIM:615724] +synonym: "Pof9" RELATED [MONDO:Lexical] synonym: "premature ovarian failure 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615724] -synonym: "premature ovarian failure type 9" EXACT [MONDORULE:1, OMIM:615724] +synonym: "premature ovarian failure type 9" EXACT [MONDORULE:1] synonym: "primary ovarian failure caused by mutation in HFM1" EXACT [MONDO:design_pattern] xref: DOID:0080866 {source="MONDO:equivalentTo"} xref: MEDGEN:816706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330218,9 +330278,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:16004", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 68" EXACT [MONDO:Lexical, OMIM:615725] +synonym: "retinitis pigmentosa 68" EXACT [DOID:0110374, MONDO:Lexical, OMIM:615725] synonym: "retinitis pigmentosa caused by mutation in SLC7A14" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 68" EXACT [DOID:0110374, MONDORULE:2, OMIM:615725] +synonym: "retinitis pigmentosa type 68" EXACT [MONDORULE:2] synonym: "RP68" EXACT ABBREVIATION [DOID:0110374, MONDO:Lexical, OMIM:615725] synonym: "SLC7A14 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110374 {source="MONDO:equivalentTo"} @@ -330244,8 +330304,8 @@ subset: rare synonym: "KRT6A pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pachyonychia congenita 3" EXACT [MONDO:Lexical, OMIM:615726] synonym: "pachyonychia congenita caused by mutation in KRT6A" EXACT [MONDO:design_pattern] -synonym: "pachyonychia congenita type 3" EXACT [MONDORULE:1, OMIM:615726] -synonym: "PC3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615726] +synonym: "pachyonychia congenita type 3" EXACT [MONDORULE:1] +synonym: "PC3" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16005 {source="MONDO:GARD"} xref: MEDGEN:811523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615726 {source="MONDO:equivalentTo"} @@ -330266,8 +330326,8 @@ subset: rare synonym: "KRT6B pachyonychia congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "pachyonychia congenita 4" EXACT [MONDO:Lexical, OMIM:615728] synonym: "pachyonychia congenita caused by mutation in KRT6B" EXACT [MONDO:design_pattern] -synonym: "pachyonychia congenita type 4" EXACT [MONDORULE:1, OMIM:615728] -synonym: "PC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615728] +synonym: "pachyonychia congenita type 4" EXACT [MONDORULE:1] +synonym: "PC4" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16006 {source="MONDO:GARD"} xref: MEDGEN:811524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615728 {source="MONDO:equivalentTo"} @@ -330288,9 +330348,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "KLHL41 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM9" EXACT ABBREVIATION [DOID:0110929, MONDO:Lexical, OMIM:615731] -synonym: "nemaline myopathy 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615731] +synonym: "nemaline myopathy 9" EXACT CLINGEN_LABEL [DOID:0110929, MONDO:Lexical, OMIM:615731] synonym: "nemaline myopathy caused by mutation in KLHL41" EXACT [MONDO:design_pattern] -synonym: "nemaline myopathy type 9" EXACT [DOID:0110929, MONDORULE:1, OMIM:615731] +synonym: "nemaline myopathy type 9" EXACT [MONDORULE:1] xref: DOID:0110929 {source="MONDO:equivalentTo"} xref: GARD:16007 {source="MONDO:GARD"} xref: MEDGEN:816714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330316,9 +330376,9 @@ subset: ordo_disorder {source="Orphanet:402003"} subset: orphanet_rare {source="Orphanet:402003"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" EXACT [Orphanet:402003] +synonym: "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" EXACT [DOID:0111710, Orphanet:402003] synonym: "palmoplantar keratoderma, nonepidermolytic, focal or diffuse" EXACT [MONDO:Lexical, OMIM:615735] -synonym: "PPKNEFD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615735] +synonym: "PPKNEFD" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111710 {source="MONDO:equivalentTo"} xref: GARD:17669 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:402003/attributed", source="Orphanet:402003/ntbt", source="Orphanet:402003"} @@ -330339,13 +330399,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16008", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE19" EXACT ABBREVIATION [OMIM:615744] -synonym: "developmental and epileptic encephalopathy 19" EXACT [OMIM:615744, OMIM:genemap2] -synonym: "Early Infantile epileptic encephalopathy 19" EXACT [NCIT:C142802] +synonym: "DEE19" EXACT ABBREVIATION [DOID:0080431, NCIT:C142802, OMIM:615744] +synonym: "developmental and epileptic encephalopathy 19" EXACT [DOID:0080431, NCIT:C142802, OMIM:615744] +synonym: "Early Infantile epileptic encephalopathy 19" EXACT [DOID:0080431, NCIT:C142802] synonym: "early infantile epileptic encephalopathy caused by mutation in GABRA1" EXACT [MONDO:design_pattern] -synonym: "EIEE19" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615744] +synonym: "EIEE19" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C142802] synonym: "epileptic encephalopathy, early infantile, 19" EXACT [MONDO:Lexical, OMIM:615744] -synonym: "epileptic encephalopathy, early infantile, type 19" EXACT [MONDORULE:2, OMIM:615744] +synonym: "epileptic encephalopathy, early infantile, type 19" EXACT [MONDORULE:2] synonym: "GABRA1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080431 {source="MONDO:equivalentTo"} xref: GARD:16008 {source="MONDO:GARD"} @@ -330368,12 +330428,12 @@ def: "Any atrial standstill in which the cause of the disease is a mutation in t subset: gard_rare {source="GARD:18612", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "atrial dilation and standstill" RELATED [OMIM:615745] -synonym: "atrial standstill 2" EXACT [MONDO:Lexical, OMIM:615745] +synonym: "atrial dilation and standstill" RELATED [] +synonym: "atrial standstill 2" EXACT [DOID:0080663, MONDO:Lexical, OMIM:615745] synonym: "atrial standstill caused by mutation in NPPA" EXACT [MONDO:design_pattern] -synonym: "atrial standstill type 2" EXACT [MONDORULE:1, OMIM:615745] -synonym: "ATRST2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615745] -synonym: "cardiomyopathy, atrial dilated, with atrial standstill" RELATED [OMIM:615745] +synonym: "atrial standstill type 2" EXACT [MONDORULE:1] +synonym: "ATRST2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "cardiomyopathy, atrial dilated, with atrial standstill" RELATED [] synonym: "NPPA atrial standstill" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080663 {source="MONDO:equivalentTo"} xref: GARD:18612 {source="MONDO:GARD"} @@ -330389,7 +330449,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014330 name: obsolete eculizumab, poor response to -synonym: "eculizumab, poor response to" EXACT [OMIM:615749, OMIM:genemap2] +synonym: "eculizumab, poor response to" EXACT [] xref: OMIM:615749 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -330404,9 +330464,9 @@ subset: ordo_disorder {source="Orphanet:401945"} subset: orphanet_rare {source="Orphanet:401945"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "moyamoya 6 with achalasia" EXACT [OMIM:615750, OMIM:genemap2] -synonym: "Moyamoya disease 6 with achalasia" RELATED [MONDO:Lexical, OMIM:615750] -synonym: "MYMY6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615750] +synonym: "moyamoya 6 with achalasia" EXACT [] +synonym: "Moyamoya disease 6 with achalasia" RELATED [MONDO:Lexical] +synonym: "MYMY6" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17664 {source="MONDO:GARD"} xref: ICD10CM:I67.5 {source="Orphanet:401945", source="Orphanet:401945/attributed", source="Orphanet:401945/ntbt"} xref: MEDGEN:816733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330431,12 +330491,12 @@ subset: orphanet_rare {source="Orphanet:401948"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CA-VA deficiency" EXACT [Orphanet:401948] -synonym: "CA5AD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615751] -synonym: "carbonic anhydrase 5A deficiency, hyperammonemia due to" RELATED [OMIM:615751] +synonym: "CA5AD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "carbonic anhydrase 5A deficiency, hyperammonemia due to" RELATED [] synonym: "carbonic anhydrase VA deficiency" RELATED [GARD:0013201] -synonym: "carbonic anhydrase VA deficiency, hyperammonemia due to" RELATED [MONDO:Lexical, OMIM:615751] +synonym: "carbonic anhydrase VA deficiency, hyperammonemia due to" RELATED [MONDO:Lexical] synonym: "hyperammonemia due to carbonic anhydrase VA deficiency" RELATED [GARD:0013201] -synonym: "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" EXACT CLINGEN_LABEL [] +synonym: "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" EXACT CLINGEN_LABEL [Orphanet:401948] synonym: "mitochondrial carbonic anhydrase va deficiency" RELATED [GARD:0013201] xref: GARD:13201 {source="MONDO:GARD"} xref: ICD10CM:E74.8 {source="Orphanet:401948/attributed", source="Orphanet:401948/ntbt", source="Orphanet:401948"} @@ -330458,9 +330518,9 @@ name: polymicrogyria, bilateral perisylvian, autosomal recessive subset: gard_rare {source="GARD:16009", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BPPR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615752] -synonym: "Pmgr" RELATED [OMIM:615752] -synonym: "polymicrogyria, bilateral perisylvian" EXACT [OMIM:615752, OMIM:genemap2] +synonym: "BPPR" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Pmgr" RELATED [] +synonym: "polymicrogyria, bilateral perisylvian" EXACT [] synonym: "polymicrogyria, bilateral perisylvian, autosomal recessive" EXACT [MONDO:Lexical, OMIM:615752] xref: GARD:16009 {source="MONDO:GARD"} xref: MEDGEN:816735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330482,12 +330542,12 @@ subset: ordo_disorder {source="Orphanet:280142"} subset: orphanet_rare {source="Orphanet:280142"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615758] -synonym: "immunodeficiency 22" RELATED [MONDO:Lexical, OMIM:615758] -synonym: "immunodeficiency type 22" EXACT [MONDORULE:2, OMIM:615758] -synonym: "SCID due to LCK deficiency" EXACT [Orphanet:280142] -synonym: "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142] -synonym: "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [Orphanet:280142] +synonym: "IMD22" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 22" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 22" EXACT [MONDORULE:2] +synonym: "SCID due to LCK deficiency" EXACT [DOID:0111937, Orphanet:280142] +synonym: "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [DOID:0111937, Orphanet:280142] +synonym: "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [DOID:0111937, Orphanet:280142] xref: DOID:0111937 {source="MONDO:equivalentTo"} xref: GARD:17288 {source="MONDO:GARD"} xref: ICD10CM:D81.1 {source="Orphanet:280142", source="Orphanet:280142/attributed", source="Orphanet:280142/ntbt"} @@ -330512,9 +330572,9 @@ subset: orphanet_rare {source="Orphanet:404437"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome" EXACT CLINGEN_LABEL [] -synonym: "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy" EXACT [OMIM:615760, OMIM:genemap2] -synonym: "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" RELATED [MONDO:Lexical, OMIM:615760] -synonym: "MSCCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615760] +synonym: "microcephaly, progressive, seizures, and cerebral and cerebellar atrophy" EXACT [] +synonym: "microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" RELATED [MONDO:Lexical] +synonym: "MSCCA" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17672 {source="MONDO:GARD"} xref: ICD10CM:G98 {source="Orphanet:404437/attributed", source="Orphanet:404437/ntbt", source="Orphanet:404437"} xref: MEDGEN:862676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330537,15 +330597,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:404440"} subset: orphanet_rare {source="Orphanet:404440"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 23" EXACT [DOID:0070053] +synonym: "autosomal dominant intellectual disability 23" EXACT [] synonym: "autosomal dominant mental retardation 23" EXACT DEPRECATED [DOID:0070053] -synonym: "autosomal dominant non-syndromic intellectual disability 23" RELATED [DOID:0070053] -synonym: "intellectual developmental disorder, autosomal dominant 23" EXACT [OMIM:615761, OMIM:genemap2] -synonym: "intellectual disability, autosomal dominant 23" RELATED [MONDO:Lexical, OMIM:615761] -synonym: "intellectual disability, autosomal dominant type 23" EXACT [MONDORULE:2, OMIM:615761] -synonym: "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" EXACT CLINGEN_LABEL [] -synonym: "mental retardation, autosomal dominant 23" RELATED DEPRECATED [MONDO:Lexical, OMIM:615761] -synonym: "mental retardation, autosomal dominant type 23" EXACT DEPRECATED [MONDORULE:2, OMIM:615761] +synonym: "autosomal dominant non-syndromic intellectual disability 23" RELATED [] +synonym: "intellectual developmental disorder, autosomal dominant 23" EXACT [OMIM:615761] +synonym: "intellectual disability, autosomal dominant 23" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 23" EXACT [MONDORULE:2] +synonym: "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" EXACT CLINGEN_LABEL [Orphanet:404440] +synonym: "mental retardation, autosomal dominant 23" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 23" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD23" EXACT ABBREVIATION [DOID:0070053, MONDO:Lexical, OMIM:615761] xref: DOID:0070053 {source="MONDO:equivalentTo"} xref: GARD:17673 {source="MONDO:GARD"} @@ -330568,9 +330628,9 @@ name: complex cortical dysplasia with other brain malformations 5 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene." [MONDO:patterns/disease_series_by_gene] synonym: "CDCBM5" EXACT ABBREVIATION [DOID:0090135, MONDO:Lexical, OMIM:615763] synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A" EXACT [MONDO:design_pattern] -synonym: "complex cortical dysplasia with other brain malformations type 5" EXACT [DOID:0090135, MONDORULE:1] -synonym: "cortical dysplasia, complex, with other brain malformations 5" RELATED [MONDO:Lexical, OMIM:615763] -synonym: "cortical dysplasia, Complex, with Other brain malformations type 5" EXACT [MONDORULE:1, OMIM:615763] +synonym: "complex cortical dysplasia with other brain malformations type 5" EXACT [MONDORULE:1] +synonym: "cortical dysplasia, complex, with other brain malformations 5" RELATED [MONDO:Lexical] +synonym: "cortical dysplasia, Complex, with Other brain malformations type 5" EXACT [MONDORULE:1] synonym: "TUBB2A complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090135 {source="MONDO:equivalentTo"} xref: MEDGEN:816737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330590,11 +330650,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:477661"} subset: orphanet_rare {source="Orphanet:477661"} subset: rare -synonym: "CVID11" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615767] -synonym: "IL21 deficiency" RELATED [OMIM:615767] +synonym: "CVID11" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "IL21 deficiency" RELATED [] synonym: "IL21-related infantile IBD" EXACT [Orphanet:477661] -synonym: "immunodeficiency, common variable, 11" RELATED [MONDO:Lexical, OMIM:615767] -synonym: "immunodeficiency, common variable, type 11" EXACT [MONDORULE:2, OMIM:615767] +synonym: "immunodeficiency, common variable, 11" RELATED [MONDO:Lexical] +synonym: "immunodeficiency, common variable, type 11" EXACT [MONDORULE:2] xref: DOID:0081153 {source="MONDO:equivalentTo"} xref: GARD:17852 {source="MONDO:GARD"} xref: MEDGEN:1799211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330618,13 +330678,13 @@ subset: orphanet_rare {source="Orphanet:412057"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive cerebellar ataxia caused by mutation in STUB1" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive cerebellar ataxia due to STUB1 deficiency" RELATED [Orphanet:412057] -synonym: "autosomal recessive spinocerebellar ataxia 16" EXACT CLINGEN_LABEL [] -synonym: "autosomal recessive spinocerebellar ataxia type 16" EXACT [DOID:0080029, MONDORULE:2] -synonym: "SCAR16" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615768, Orphanet:412057] +synonym: "autosomal recessive cerebellar ataxia due to STUB1 deficiency" RELATED [] +synonym: "autosomal recessive spinocerebellar ataxia 16" EXACT CLINGEN_LABEL [DOID:0080029] +synonym: "autosomal recessive spinocerebellar ataxia type 16" EXACT [MONDORULE:2] +synonym: "SCAR16" EXACT ABBREVIATION [DOID:0080029, MONDO:Lexical, OMIM:615768, Orphanet:412057] synonym: "spinocerebellar ataxia autosomal recessive type 16" EXACT [Orphanet:412057] -synonym: "spinocerebellar ataxia, autosomal recessive 16" RELATED [MONDO:Lexical, OMIM:615768] -synonym: "spinocerebellar ataxia, autosomal recessive type 16" EXACT [MONDORULE:2, OMIM:615768] +synonym: "spinocerebellar ataxia, autosomal recessive 16" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 16" EXACT [MONDORULE:2] synonym: "STUB1 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080029 {source="MONDO:equivalentTo"} xref: GARD:17689 {source="MONDO:GARD"} @@ -330644,10 +330704,10 @@ name: atrial fibrillation, familial, 15 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16010", source="MONDO:GARD"} subset: rare -synonym: "ATFB15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615770] -synonym: "atrial fibrillation 15" EXACT [OMIM:615770, OMIM:genemap2] +synonym: "ATFB15" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "atrial fibrillation 15" EXACT [] synonym: "atrial fibrillation, familial, 15" EXACT [MONDO:Lexical, OMIM:615770] -synonym: "atrial fibrillation, familial, type 15" EXACT [MONDORULE:2, OMIM:615770] +synonym: "atrial fibrillation, familial, type 15" EXACT [MONDORULE:2] synonym: "familial atrial fibrillation caused by mutation in NUP155" EXACT [MONDO:design_pattern] synonym: "NUP155 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16010 {source="MONDO:GARD"} @@ -330666,11 +330726,11 @@ id: MONDO:0014341 name: complex cortical dysplasia with other brain malformations 6 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene." [MONDO:patterns/disease_series_by_gene] synonym: "CDCBM56" EXACT ABBREVIATION [DOID:0090136] -synonym: "CDCBM6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615771] +synonym: "CDCBM6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB" EXACT [MONDO:design_pattern] -synonym: "complex cortical dysplasia with other brain malformations type 6" EXACT [DOID:0090136, MONDORULE:1] -synonym: "cortical dysplasia, complex, with other brain malformations 6" RELATED [MONDO:Lexical, OMIM:615771] -synonym: "cortical dysplasia, Complex, with Other brain malformations type 6" EXACT [MONDORULE:1, OMIM:615771] +synonym: "complex cortical dysplasia with other brain malformations type 6" EXACT [MONDORULE:1] +synonym: "cortical dysplasia, complex, with other brain malformations 6" RELATED [MONDO:Lexical] +synonym: "cortical dysplasia, Complex, with Other brain malformations type 6" EXACT [MONDORULE:1] synonym: "TUBB complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090136 {source="MONDO:equivalentTo"} xref: MEDGEN:862720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330692,10 +330752,10 @@ subset: ordo_disorder {source="Orphanet:404466"} subset: orphanet_rare {source="Orphanet:404466"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "oocyte maturation defect" RELATED [MONDO:Lexical, OMIM:615774] -synonym: "oocyte maturation defect 1" RELATED [OMIM:615774] -synonym: "OOMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615774] -synonym: "OOMD1" RELATED ABBREVIATION [OMIM:615774] +synonym: "oocyte maturation defect" RELATED [MONDO:Lexical] +synonym: "oocyte maturation defect 1" RELATED [] +synonym: "OOMD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "OOMD1" RELATED ABBREVIATION [] xref: GARD:17675 {source="MONDO:GARD"} xref: ICD10CM:N97.8 {source="Orphanet:404466/attributed", source="Orphanet:404466/ntbt", source="Orphanet:404466"} xref: MEDGEN:862728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330714,11 +330774,11 @@ subset: gard_rare {source="GARD:16466", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Baratela-Scott syndrome" EXACT [MONDO:0010470, OMIM:300881] -synonym: "DBQD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615777] +synonym: "Baratela-Scott syndrome" EXACT [MONDO:0010470, OMIM:615777] +synonym: "DBQD2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Desbuquois dysplasia 2" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615777] synonym: "Desbuquois dysplasia caused by mutation in XYLT1" EXACT [MONDO:design_pattern] -synonym: "Desbuquois dysplasia type 2" EXACT [MONDORULE:1, OMIM:615777] +synonym: "Desbuquois dysplasia type 2" EXACT [MONDORULE:1] synonym: "XYLT1 Desbuquois dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16466 {source="MONDO:GARD"} xref: MEDGEN:862731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330739,7 +330799,7 @@ def: "Any congenital heart defects, multiple types in which the cause of the dis subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CHTD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615779] +synonym: "CHTD4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "congenital heart defects, multiple types caused by mutation in NR2F2" EXACT [MONDO:design_pattern] synonym: "congenital heart defects, multiple types, 4" EXACT [MONDO:Lexical, OMIM:615779] synonym: "NR2F2 congenital heart defects, multiple types" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -330764,9 +330824,9 @@ subset: gard_rare {source="GARD:16011", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "KIZ retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 69" EXACT [MONDO:Lexical, OMIM:615780] +synonym: "retinitis pigmentosa 69" EXACT [DOID:0110410, MONDO:Lexical, OMIM:615780] synonym: "retinitis pigmentosa caused by mutation in KIZ" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 69" EXACT [DOID:0110410, MONDORULE:2, OMIM:615780] +synonym: "retinitis pigmentosa type 69" EXACT [MONDORULE:2] synonym: "RP69" EXACT ABBREVIATION [DOID:0110410, MONDO:Lexical, OMIM:615780] xref: DOID:0110410 {source="MONDO:equivalentTo"} xref: GARD:16011 {source="MONDO:GARD"} @@ -330786,10 +330846,10 @@ name: white sponge nevus 2 subset: gard_rare {source="GARD:16012", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "WHITE sponge NEVUS 2" RELATED [OMIM:615785] -synonym: "white sponge nevus 2" EXACT [MONDO:Lexical, OMIM:615785] -synonym: "White sponge Nevus type 2" EXACT [MONDORULE:1, OMIM:615785] -synonym: "WSN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615785] +synonym: "WHITE sponge NEVUS 2" RELATED [] +synonym: "white sponge nevus 2" EXACT [DOID:0081288, MONDO:Lexical, OMIM:615785] +synonym: "White sponge Nevus type 2" EXACT [MONDORULE:1] +synonym: "WSN2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081288 {source="MONDO:equivalentTo"} xref: GARD:16012 {source="MONDO:GARD"} xref: MEDGEN:862758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330824,13 +330884,13 @@ subset: gard_rare {source="GARD:22564", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1" EXACT [MONDO:design_pattern] -synonym: "glycosylphosphatidylinositol biosynthesis defect 9" RELATED [OMIM:615802] -synonym: "intellectual disability, autosomal recessive 42" EXACT [MONDO:Lexical, OMIM:615802] -synonym: "intellectual disability, autosomal recessive type 42" EXACT [MONDORULE:2, OMIM:615802] -synonym: "mental retardation, autosomal recessive 42" RELATED DEPRECATED [MONDO:Lexical, OMIM:615802] -synonym: "mental retardation, autosomal recessive type 42" EXACT DEPRECATED [MONDORULE:2, OMIM:615802] -synonym: "MRT42" RELATED DEPRECATED [MONDO:Lexical, OMIM:615802] -synonym: "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities" EXACT [OMIM:615802, OMIM:genemap2] +synonym: "glycosylphosphatidylinositol biosynthesis defect 9" RELATED [] +synonym: "intellectual disability, autosomal recessive 42" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 42" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 42" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 42" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT42" RELATED DEPRECATED [MONDO:Lexical] +synonym: "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities" EXACT [OMIM:615802] synonym: "PGAP1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:22564 {source="MONDO:GARD"} xref: MEDGEN:862780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330857,7 +330917,7 @@ synonym: "CLP1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pat synonym: "CLP1-related pontocerebellar hypoplasia" EXACT [Orphanet:411493] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1" EXACT [MONDO:design_pattern] synonym: "PCH10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615803, Orphanet:411493] -synonym: "pontocerebellar hypoplasia, type 10" RELATED [MONDO:Lexical, OMIM:615803] +synonym: "pontocerebellar hypoplasia, type 10" RELATED [MONDO:Lexical] xref: DOID:0060279 {source="MONDO:equivalentTo"} xref: GARD:17680 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:411493/attributed", source="Orphanet:411493/ntbt", source="Orphanet:411493"} @@ -330879,9 +330939,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DNA2 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL8" EXACT ABBREVIATION [DOID:0070009, MONDO:Lexical, OMIM:615807] -synonym: "Seckel syndrome 8" EXACT [MONDO:Lexical, OMIM:615807] +synonym: "Seckel syndrome 8" EXACT [DOID:0070009, MONDO:Lexical, OMIM:615807] synonym: "Seckel syndrome caused by mutation in DNA2" EXACT [MONDO:design_pattern] -synonym: "Seckel syndrome type 8" EXACT [MONDORULE:1, OMIM:615807] +synonym: "Seckel syndrome type 8" EXACT [MONDORULE:1] xref: DOID:0070009 {source="MONDO:equivalentTo"} xref: GARD:16013 {source="MONDO:GARD"} xref: MEDGEN:856014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -330910,7 +330970,7 @@ subset: rare synonym: "AMPD2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2" EXACT [MONDO:design_pattern] synonym: "PCH9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615809, Orphanet:369920] -synonym: "pontocerebellar hypoplasia, type 9" RELATED [MONDO:Lexical, OMIM:615809] +synonym: "pontocerebellar hypoplasia, type 9" RELATED [MONDO:Lexical] xref: DOID:0060278 {source="MONDO:equivalentTo"} xref: GARD:17590 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:369920", source="Orphanet:369920/attributed", source="Orphanet:369920/ntbt", source="DOID:0060278"} @@ -330929,10 +330989,10 @@ name: abdominal obesity-metabolic syndrome 3 def: "Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "abdominal obesity-metabolic syndrome 3" EXACT [MONDO:Lexical, OMIM:615812] -synonym: "abdominal obesity-metabolic syndrome type 3" EXACT [DOID:0060612, MONDORULE:1, OMIM:615812] -synonym: "AOMS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615812] -synonym: "central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease" RELATED [OMIM:615812] +synonym: "abdominal obesity-metabolic syndrome 3" EXACT [DOID:0060612, MONDO:Lexical, OMIM:615812] +synonym: "abdominal obesity-metabolic syndrome type 3" EXACT [MONDORULE:1] +synonym: "AOMS3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease" RELATED [] synonym: "DYRK1B metabolic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "metabolic syndrome caused by mutation in DYRK1B" EXACT [MONDO:design_pattern] xref: DOID:0060612 {source="MONDO:equivalentTo"} @@ -330954,16 +331014,16 @@ subset: ordo_disorder {source="Orphanet:443811"} subset: orphanet_rare {source="Orphanet:443811"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CID due to PGM3 deficiency" EXACT [Orphanet:443811] -synonym: "combined immunodeficiency due to PGM3 deficiency" EXACT [Orphanet:443811] -synonym: "combined inflammatory and immunologic defect" EXACT [MONDO:0009004, OMIM:216920] -synonym: "IMD23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615816] -synonym: "immunodeficiency 23" EXACT [MONDO:Lexical, OMIM:615816] -synonym: "immunodeficiency type 23" EXACT [MONDORULE:2, OMIM:615816] +synonym: "CID due to PGM3 deficiency" EXACT [DOID:0111953, Orphanet:443811] +synonym: "combined immunodeficiency due to PGM3 deficiency" EXACT [DOID:0111953, Orphanet:443811] +synonym: "combined inflammatory and immunologic defect" EXACT [MONDO:0009004] +synonym: "IMD23" EXACT ABBREVIATION [DOID:0111953, MONDO:Lexical, OMIM:615816] +synonym: "immunodeficiency 23" EXACT [DOID:0111953, MONDO:Lexical, OMIM:615816] +synonym: "immunodeficiency type 23" EXACT [MONDORULE:2] synonym: "immunodeficiency with hyper IgE and cognitive impairment" EXACT [OMIM:615816] synonym: "immunodeficiency-vasculitis-myoclonus syndrome" EXACT [OMIM:615816] -synonym: "PGM3-CDG" EXACT CLINGEN_LABEL [] -synonym: "PGM3-EXACT congenital disorder of glycosylation" EXACT [Orphanet:443811] +synonym: "PGM3-CDG" EXACT CLINGEN_LABEL [DOID:0111953, Orphanet:443811] +synonym: "PGM3-EXACT congenital disorder of glycosylation" EXACT [] synonym: "phosphoglucomutase 3 deficiency" EXACT [GARD:0004331] synonym: "phosphoglucomutase deficiency type 3" EXACT [GARD:0004331] xref: DOID:0111953 {source="MONDO:equivalentTo"} @@ -330989,12 +331049,12 @@ subset: gard_rare {source="GARD:22565", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4" EXACT [MONDO:design_pattern] -synonym: "intellectual developmental disorder, autosomal recessive 43" EXACT [OMIM:615817, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 43" EXACT [MONDO:Lexical, OMIM:615817] -synonym: "intellectual disability, autosomal recessive type 43" EXACT [MONDORULE:2, OMIM:615817] -synonym: "mental retardation, autosomal recessive 43" RELATED DEPRECATED [MONDO:Lexical, OMIM:615817] -synonym: "mental retardation, autosomal recessive type 43" EXACT DEPRECATED [MONDORULE:2, OMIM:615817] -synonym: "MRT43" RELATED DEPRECATED [MONDO:Lexical, OMIM:615817] +synonym: "intellectual developmental disorder, autosomal recessive 43" EXACT [OMIM:615817] +synonym: "intellectual disability, autosomal recessive 43" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 43" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 43" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 43" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT43" RELATED DEPRECATED [MONDO:Lexical] synonym: "WASHC4 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081207 {source="MONDO:equivalentTo"} xref: GARD:22565 {source="MONDO:GARD"} @@ -331014,12 +331074,12 @@ subset: gard_rare {source="GARD:16014", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:476096"} subset: orphanet_rare {source="Orphanet:476096"} subset: rare -synonym: "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis" EXACT [MONDO:Lexical, OMIM:615821] -synonym: "DCWHKTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615821] +synonym: "cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis" EXACT [MONDO:Lexical] +synonym: "DCWHKTA" RELATED ABBREVIATION [MONDO:Lexical] synonym: "dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis" EXACT OMO:0003005 [] -synonym: "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis" EXACT [OMIM:615821, OMIM:genemap2] +synonym: "dilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesis" EXACT [] synonym: "EKC syndrome" EXACT [Orphanet:476096] -synonym: "erythrokeratodermia-cardiomyopathy syndrome" EXACT [MONDO:0018774] +synonym: "erythrokeratodermia-cardiomyopathy syndrome" EXACT [MONDO:0018774, Orphanet:476096] xref: GARD:16014 {source="MONDO:GARD"} xref: MEDGEN:862830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615821 {source="MONDO:equivalentTo"} @@ -331042,10 +331102,10 @@ name: mitochondrial complex III deficiency nuclear type 7 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16015", source="MONDO:GARD"} subset: rare -synonym: "MC3DN7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615824] -synonym: "mitochondrial Complex 3 deficiency, nuclear type 7" RELATED [OMIM:615824] +synonym: "MC3DN7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mitochondrial Complex 3 deficiency, nuclear type 7" RELATED [] synonym: "mitochondrial complex III deficiency caused by mutation in UQCC2" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex III deficiency, nuclear type 7" RELATED [MONDO:Lexical, OMIM:615824] +synonym: "mitochondrial complex III deficiency, nuclear type 7" RELATED [MONDO:Lexical] synonym: "UQCC2 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080116 {source="MONDO:equivalentTo"} xref: GARD:16015 {source="MONDO:GARD"} @@ -331066,17 +331126,17 @@ name: intellectual disability, autosomal dominant 24 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16467", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant intellectual disability 24" EXACT [DOID:0070054] +synonym: "autosomal dominant intellectual disability 24" EXACT [] synonym: "autosomal dominant mental retardation 24" EXACT DEPRECATED [DOID:0070054] -synonym: "autosomal dominant non-syndromic intellectual disability 24" RELATED [DOID:0070054] +synonym: "autosomal dominant non-syndromic intellectual disability 24" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1" EXACT [MONDO:design_pattern] synonym: "DEAF1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal dominant 24" EXACT [MONDO:Lexical, OMIM:615828] -synonym: "intellectual disability, autosomal dominant type 24" EXACT [MONDORULE:2, OMIM:615828] -synonym: "mental retardation, autosomal dominant 24" RELATED DEPRECATED [MONDO:Lexical, OMIM:615828] -synonym: "mental retardation, autosomal dominant type 24" EXACT DEPRECATED [MONDORULE:2, OMIM:615828] -synonym: "MRD24" EXACT ABBREVIATION [DOID:0070054, MONDO:Lexical, OMIM:615828] -synonym: "Vulto-van Silfout-de Vries syndrome" EXACT [OMIM:615828, OMIM:genemap2] +synonym: "intellectual disability, autosomal dominant 24" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 24" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 24" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 24" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD24" EXACT ABBREVIATION [DOID:0070054, MONDO:Lexical] +synonym: "Vulto-van Silfout-de Vries syndrome" EXACT [DOID:0070054] xref: DOID:0070054 {source="MONDO:equivalentTo"} xref: GARD:16467 {source="MONDO:GARD"} xref: MEDGEN:862851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -331100,12 +331160,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:412069"} subset: orphanet_rare {source="Orphanet:412069"} subset: rare synonym: "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome" EXACT CLINGEN_LABEL [] -synonym: "autosomal dominant intellectual disability 25" EXACT [DOID:0070055] +synonym: "autosomal dominant intellectual disability 25" EXACT [] synonym: "autosomal dominant mental retardation 25" EXACT DEPRECATED [DOID:0070055] -synonym: "intellectual disability, autosomal dominant 25" RELATED [OMIM:615829] -synonym: "mental retardation, autosomal dominant 25" RELATED DEPRECATED [OMIM:615829] +synonym: "intellectual disability, autosomal dominant 25" RELATED [] +synonym: "mental retardation, autosomal dominant 25" RELATED DEPRECATED [] synonym: "MRD25" EXACT ABBREVIATION [DOID:0070055] -synonym: "Xia-Gibbs syndrome" EXACT [OMIM:615829, Orphanet:412069] +synonym: "Xia-Gibbs syndrome" EXACT [DOID:0070055, OMIM:615829, Orphanet:412069] xref: DOID:0070055 {source="MONDO:equivalentTo"} xref: GARD:13409 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:412069", source="Orphanet:412069/attributed", source="Orphanet:412069/ntbt"} @@ -331127,13 +331187,13 @@ def: "Any primary pigmented nodular adrenocortical disease in which the cause of subset: gard_rare {source="GARD:16016", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ACTH-independent adrenal Cushing syndrome, somatic" RELATED [OMIM:615830] -synonym: "chromosome 19P13 Duplication syndrome" RELATED [OMIM:615830] -synonym: "Cushing syndrome, ACTH-independent adrenal, somatic" EXACT [OMIM:615830, OMIM:genemap2] -synonym: "Cushing syndrome, adrenal, due to Ppnad4" RELATED [OMIM:615830] +synonym: "ACTH-independent adrenal Cushing syndrome, somatic" RELATED [] +synonym: "chromosome 19P13 Duplication syndrome" RELATED [] +synonym: "Cushing syndrome, ACTH-independent adrenal, somatic" EXACT [] +synonym: "Cushing syndrome, adrenal, due to Ppnad4" RELATED [] synonym: "pigmented nodular adrenocortical disease, primary, 4" EXACT [MONDO:Lexical, OMIM:615830] -synonym: "pigmented nodular adrenocortical disease, primary, type 4" EXACT [MONDORULE:1, OMIM:615830] -synonym: "PPNAD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615830] +synonym: "pigmented nodular adrenocortical disease, primary, type 4" EXACT [MONDORULE:1] +synonym: "PPNAD4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PRKACA" EXACT [MONDO:design_pattern] synonym: "PRKACA primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070549 {source="MONDO:equivalentTo"} @@ -331155,12 +331215,12 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16017", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE21" EXACT ABBREVIATION [OMIM:615833] -synonym: "developmental and epileptic encephalopathy 21" EXACT [OMIM:615833, OMIM:genemap2] +synonym: "DEE21" EXACT ABBREVIATION [DOID:0080443, OMIM:615833] +synonym: "developmental and epileptic encephalopathy 21" EXACT [DOID:0080443, OMIM:615833] synonym: "early infantile epileptic encephalopathy caused by mutation in NECAP1" EXACT [MONDO:design_pattern] -synonym: "EIEE21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615833] +synonym: "EIEE21" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 21" EXACT [MONDO:Lexical, OMIM:615833] -synonym: "epileptic encephalopathy, early infantile, type 21" EXACT [MONDORULE:2, OMIM:615833] +synonym: "epileptic encephalopathy, early infantile, type 21" EXACT [MONDORULE:2] synonym: "NECAP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080443 {source="MONDO:equivalentTo"} xref: GARD:16017 {source="MONDO:GARD"} @@ -331185,14 +331245,14 @@ subset: orphanet_rare {source="Orphanet:352490"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ASD due to AUTS2 deficiency" EXACT [Orphanet:352490] -synonym: "autism spectrum disorder due to AUTS2 deficiency" EXACT CLINGEN_LABEL [] +synonym: "autism spectrum disorder due to AUTS2 deficiency" EXACT CLINGEN_LABEL [Orphanet:352490] synonym: "autosomal dominant mental retardation 26" EXACT DEPRECATED [DOID:0070056] synonym: "autosomal dominant non-syndromic intellectual disability 26" EXACT DEPRECATED [DOID:0070056] synonym: "AUTS2 syndrome" EXACT [Orphanet:352490] -synonym: "intellectual developmental disorder, autosomal dominant 26" EXACT [OMIM:615834, OMIM:genemap2] +synonym: "intellectual developmental disorder, autosomal dominant 26" EXACT [OMIM:615834] synonym: "intellectual disability type 26" EXACT [MONDORULE:2] synonym: "mental retardation, autosomal dominant 26" EXACT DEPRECATED [MONDO:Lexical, OMIM:615834] -synonym: "mental retardation, autosomal dominant type 26" EXACT DEPRECATED [MONDORULE:2, OMIM:615834] +synonym: "mental retardation, autosomal dominant type 26" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD26" EXACT DEPRECATED [DOID:0070056, MONDO:Lexical, OMIM:615834] xref: DOID:0070056 {source="MONDO:equivalentTo"} xref: GARD:17520 {source="MONDO:GARD"} @@ -331231,13 +331291,13 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22651", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 101" NARROW [DOID:0110462] -synonym: "autosomal recessive nonsyndromic deafness 101" NARROW [OMIM:615837] +synonym: "autosomal recessive deafness 101" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 101" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 101" NARROW [DOID:0110462, MONDORULE:2] -synonym: "deafness, autosomal recessive 101" NARROW [MONDO:Lexical, OMIM:615837, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 101" NARROW [MONDORULE:2, OMIM:615837] -synonym: "DFNB101" NARROW ABBREVIATION [DOID:0110462, MONDO:Lexical, OMIM:615837] +synonym: "autosomal recessive nonsyndromic deafness type 101" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 101" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 101" NARROW [MONDORULE:2] +synonym: "DFNB101" NARROW ABBREVIATION [MONDO:Lexical] synonym: "GRXCR2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110462 {source="MONDO:equivalentTo"} xref: GARD:22651 {source="MONDO:GARD"} @@ -331260,11 +331320,11 @@ def: "Any mitochondrial complex III deficiency in which the cause of the disease subset: gard_rare {source="GARD:16018", source="MONDO:GARD"} subset: rare synonym: "LYRM7 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MC3DN8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615838] -synonym: "mitochondrial Complex 3 deficiency, nuclear type 8" RELATED [OMIM:615838] +synonym: "MC3DN8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mitochondrial Complex 3 deficiency, nuclear type 8" RELATED [] synonym: "mitochondrial complex III deficiency caused by mutation in LYRM7" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex III deficiency nuclear type 8" EXACT CLINGEN_LABEL [] -synonym: "mitochondrial complex III deficiency, nuclear type 8" RELATED [MONDO:Lexical, OMIM:615838] +synonym: "mitochondrial complex III deficiency nuclear type 8" EXACT CLINGEN_LABEL [DOID:0080117] +synonym: "mitochondrial complex III deficiency, nuclear type 8" RELATED [MONDO:Lexical] xref: DOID:0080117 {source="MONDO:equivalentTo"} xref: GARD:16018 {source="MONDO:GARD"} xref: MEDGEN:862877 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -331286,9 +331346,9 @@ subset: gard_rare {source="GARD:16019", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "azoospermia caused by mutation in TAF4B" EXACT [MONDO:design_pattern] -synonym: "spermatogenic failure 13" EXACT [MONDO:Lexical, OMIM:615841] -synonym: "spermatogenic failure type 13" EXACT [MONDORULE:2, OMIM:615841] -synonym: "SPGF13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615841] +synonym: "spermatogenic failure 13" EXACT [DOID:0070182, MONDO:Lexical, OMIM:615841] +synonym: "spermatogenic failure type 13" EXACT [MONDORULE:2] +synonym: "SPGF13" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TAF4B azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070182 {source="MONDO:equivalentTo"} xref: GARD:16019 {source="MONDO:GARD"} @@ -331311,9 +331371,9 @@ subset: gard_rare {source="GARD:16020", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "azoospermia caused by mutation in ZMYND15" EXACT [MONDO:design_pattern] -synonym: "spermatogenic failure 14" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615842] -synonym: "spermatogenic failure type 14" EXACT [MONDORULE:2, OMIM:615842] -synonym: "SPGF14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615842] +synonym: "spermatogenic failure 14" EXACT CLINGEN_LABEL [DOID:0070179, MONDO:Lexical, OMIM:615842] +synonym: "spermatogenic failure type 14" EXACT [MONDORULE:2] +synonym: "SPGF14" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ZMYND15 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070179 {source="MONDO:equivalentTo"} xref: GARD:16020 {source="MONDO:GARD"} @@ -331336,10 +331396,10 @@ subset: gard_rare {source="GARD:16021", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AGS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615846] -synonym: "Aicardi-Goutieres syndrome 7" EXACT [MONDO:Lexical, OMIM:615846] +synonym: "AGS7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Aicardi-Goutieres syndrome 7" EXACT [MONDO:Lexical, NCIT:C168585, OMIM:615846] synonym: "Aicardi-Goutieres syndrome caused by mutation in IFIH1" EXACT [MONDO:design_pattern] -synonym: "Aicardi-Goutieres syndrome type 7" EXACT [MONDORULE:1, OMIM:615846] +synonym: "Aicardi-Goutieres syndrome type 7" EXACT [MONDORULE:1] synonym: "IFIH1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16021 {source="MONDO:GARD"} xref: MEDGEN:854829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -331360,14 +331420,14 @@ name: tumor predisposition syndrome 3 subset: gard_rare {source="GARD:18582", source="MONDO:GARD"} subset: predisposition subset: rare -synonym: "CMM10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615848] -synonym: "glioma susceptibility 9" EXACT [MONDO:Lexical, OMIM:616568] -synonym: "glioma susceptibility type 9" EXACT [MONDORULE:1, OMIM:616568] -synonym: "GLM9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616568] +synonym: "CMM10" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "glioma susceptibility 9" EXACT [MONDO:Lexical, OMIM:615848] +synonym: "glioma susceptibility type 9" EXACT [MONDORULE:1] +synonym: "GLM9" EXACT ABBREVIATION [MONDO:Lexical] synonym: "malignant glioma caused by mutation in POT1" EXACT [MONDO:design_pattern] synonym: "melanoma, cutaneous malignant, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:615848] -synonym: "melanoma, cutaneous malignant, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:615848] -synonym: "susceptibility to cutaneous malignant melanoma 10" EXACT [OMIM:615848] +synonym: "melanoma, cutaneous malignant, susceptibility to, type 10" EXACT [MONDORULE:2] +synonym: "susceptibility to cutaneous malignant melanoma 10" EXACT [] xref: GARD:18582 {source="MONDO:GARD"} xref: MEDGEN:862913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615848 {source="MONDO:equivalentTo"} @@ -331395,10 +331455,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:420584"} subset: orphanet_rare {source="Orphanet:420584"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CJS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615849] -synonym: "Culler-Jones syndrome" RELATED [MONDO:Lexical, OMIM:615849] -synonym: "Pallister-Hall syndrome 2" RELATED [OMIM:615849] -synonym: "Pallister-Hall syndrome 2, formerly" RELATED [OMIM:615849] +synonym: "CJS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Culler-Jones syndrome" RELATED [MONDO:Lexical] +synonym: "Pallister-Hall syndrome 2" RELATED [] +synonym: "Pallister-Hall syndrome 2, formerly" RELATED [] xref: DOID:0080328 {source="MONDO:equivalentTo"} xref: GARD:13349 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:420584", source="Orphanet:420584/attributed", source="Orphanet:420584/ntbt"} @@ -331422,9 +331482,9 @@ subset: gard_rare {source="GARD:18348", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53" EXACT [MONDO:design_pattern] -synonym: "PCH2E" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615851] -synonym: "pontocerebellar hypoplasia type 2E" EXACT CLINGEN_LABEL [] -synonym: "pontocerebellar hypoplasia, type 2E" RELATED [MONDO:Lexical, OMIM:615851] +synonym: "PCH2E" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "pontocerebellar hypoplasia type 2E" EXACT CLINGEN_LABEL [DOID:0060271] +synonym: "pontocerebellar hypoplasia, type 2E" RELATED [MONDO:Lexical] synonym: "VPS53 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060271 {source="MONDO:equivalentTo"} xref: GARD:18348 {source="MONDO:GARD"} @@ -331446,13 +331506,13 @@ subset: ordo_disorder {source="Orphanet:411986"} subset: ordo_malformation_syndrome {source="Orphanet:411986"} subset: orphanet_rare {source="Orphanet:411986"} subset: rare -synonym: "developmental and epileptic encephalopathy 23" EXACT [OMIM:615859, OMIM:genemap2] +synonym: "developmental and epileptic encephalopathy 23" EXACT [DOID:0080415, OMIM:615859] synonym: "developmental and epileptic encephalopathy, 23" EXACT CLINGEN_LABEL [] -synonym: "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [OMIM:615859] -synonym: "EIEE23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615859] -synonym: "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:411986] +synonym: "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [DOID:0080415, Orphanet:411986] +synonym: "EIEE23" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [DOID:0080415, Orphanet:411986] synonym: "epileptic encephalopathy, early infantile, 23" EXACT [MONDO:Lexical, OMIM:615859] -synonym: "epileptic encephalopathy, early infantile, type 23" EXACT [MONDORULE:2, OMIM:615859] +synonym: "epileptic encephalopathy, early infantile, type 23" EXACT [MONDORULE:2] xref: DOID:0080415 {source="MONDO:equivalentTo"} xref: GARD:17687 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:411986/attributed", source="Orphanet:411986/ntbt", source="Orphanet:411986"} @@ -331477,9 +331537,9 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:16022", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 19" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615860] +synonym: "cone-rod dystrophy 19" EXACT CLINGEN_LABEL [DOID:0111025, MONDO:Lexical, OMIM:615860] synonym: "cone-rod dystrophy caused by mutation in TTLL5" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 19" EXACT [DOID:0111025, MONDORULE:2, OMIM:615860] +synonym: "cone-rod dystrophy type 19" EXACT [MONDORULE:2] synonym: "CORD19" EXACT ABBREVIATION [DOID:0111025, MONDO:Lexical, OMIM:615860] synonym: "TTLL5 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111025 {source="MONDO:equivalentTo"} @@ -331503,7 +331563,7 @@ subset: rare synonym: "EMP2 nephrotic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "nephrotic syndrome caused by mutation in EMP2" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 10" EXACT [MONDO:Lexical, OMIM:615861] -synonym: "NPHS10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615861] +synonym: "NPHS10" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080386 {source="MONDO:equivalentTo"} xref: MEDGEN:862944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615861 {source="MONDO:equivalentTo"} @@ -331526,8 +331586,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEP83 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nephronophthisis (disease) caused by mutation in CEP83" EXACT [] -synonym: "nephronophthisis 18" EXACT [MONDO:Lexical, OMIM:615862] -synonym: "nephronophthisis type 18" EXACT [DOID:0111125, MONDORULE:2, OMIM:615862] +synonym: "nephronophthisis 18" EXACT [DOID:0111125, MONDO:Lexical, OMIM:615862] +synonym: "nephronophthisis type 18" EXACT [MONDORULE:2] synonym: "NPHP18" EXACT ABBREVIATION [DOID:0111125, MONDO:Lexical, OMIM:615862] xref: DOID:0111125 {source="MONDO:equivalentTo"} xref: MEDGEN:855697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -331551,17 +331611,17 @@ subset: orphanet_rare {source="Orphanet:329242"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital chronic diarrhea with exudative enteropathy" EXACT [DOID:0060778, Orphanet:329242] -synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT [DOID:0060778] -synonym: "congenital chronic diarrhoea with exudative enteropathy" EXACT OMO:0003005 [] -synonym: "congenital chronic diarrhoea with protein-losing enteropathy" EXACT OMO:0003005 [] +synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT [DOID:0060778, Orphanet:329242] +synonym: "congenital chronic diarrhoea with exudative enteropathy" EXACT OMO:0003005 [DOID:0060778] +synonym: "congenital chronic diarrhoea with protein-losing enteropathy" EXACT OMO:0003005 [DOID:0060778] synonym: "congenital diarrhea caused by mutation in DGAT1" EXACT [MONDO:design_pattern] synonym: "congenital diarrhoea caused by mutation in DGAT1" EXACT OMO:0003005 [] synonym: "DGAT1 congenital diarrhea" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DGAT1 congenital diarrhoea" EXACT OMO:0003005 [] -synonym: "DIAR7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615863] -synonym: "diarrhea 7" RELATED [MONDO:Lexical, OMIM:615863] -synonym: "diarrhea 7, protein-losing enteropathy type" EXACT [OMIM:615863, OMIM:genemap2] -synonym: "diarrhea type 7" EXACT [MONDORULE:1, OMIM:615863] +synonym: "DIAR7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "diarrhea 7" RELATED [MONDO:Lexical] +synonym: "diarrhea 7, protein-losing enteropathy type" EXACT [OMIM:615863] +synonym: "diarrhea type 7" EXACT [MONDORULE:1] synonym: "diarrhoea 7" RELATED OMO:0003005 [] synonym: "diarrhoea 7, protein-losing enteropathy type" EXACT OMO:0003005 [] synonym: "diarrhoea type 7" EXACT OMO:0003005 [] @@ -331587,16 +331647,16 @@ name: intellectual disability, autosomal dominant 27 subset: gard_rare {source="GARD:16023", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant intellectual disability 27" EXACT [DOID:0070057] +synonym: "autosomal dominant intellectual disability 27" EXACT [] synonym: "autosomal dominant mental retardation 27" EXACT DEPRECATED [DOID:0070057] -synonym: "autosomal dominant non-syndromic intellectual disability 27" RELATED [DOID:0070057] -synonym: "Coffin-Siris syndrome 9" EXACT [OMIM:615866] -synonym: "CSS9" EXACT [OMIM:615866] -synonym: "intellectual disability, autosomal dominant 27" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615866] -synonym: "intellectual disability, autosomal dominant type 27" EXACT [MONDORULE:2, OMIM:615866] -synonym: "mental retardation, autosomal dominant 27" RELATED DEPRECATED [MONDO:Lexical, OMIM:615866] -synonym: "mental retardation, autosomal dominant type 27" EXACT DEPRECATED [MONDORULE:2, OMIM:615866] -synonym: "MRD27" EXACT ABBREVIATION [DOID:0070057, MONDO:Lexical, OMIM:615866] +synonym: "autosomal dominant non-syndromic intellectual disability 27" RELATED [] +synonym: "Coffin-Siris syndrome 9" EXACT [DOID:0070057, OMIM:615866] +synonym: "CSS9" EXACT [] +synonym: "intellectual disability, autosomal dominant 27" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 27" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 27" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 27" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD27" EXACT ABBREVIATION [DOID:0070057, MONDO:Lexical] xref: DOID:0070057 {source="MONDO:equivalentTo"} xref: GARD:16023 {source="MONDO:GARD"} xref: MEDGEN:862965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -331615,12 +331675,12 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16024", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE24" EXACT ABBREVIATION [OMIM:615871] -synonym: "developmental and epileptic encephalopathy 24" EXACT [OMIM:615871, OMIM:genemap2] +synonym: "DEE24" EXACT ABBREVIATION [DOID:0080429, OMIM:615871] +synonym: "developmental and epileptic encephalopathy 24" EXACT [DOID:0080429, OMIM:615871] synonym: "early infantile epileptic encephalopathy caused by mutation in HCN1" EXACT [MONDO:design_pattern] -synonym: "EIEE24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615871] +synonym: "EIEE24" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 24" EXACT [MONDO:Lexical, OMIM:615871] -synonym: "epileptic encephalopathy, early infantile, type 24" EXACT [MONDORULE:2, OMIM:615871] +synonym: "epileptic encephalopathy, early infantile, type 24" EXACT [MONDORULE:2] synonym: "HCN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080429 {source="MONDO:equivalentTo"} xref: GARD:16024 {source="MONDO:GARD"} @@ -331643,13 +331703,13 @@ subset: gard_rare {source="GARD:16025", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CCNO primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "CILD29" EXACT ABBREVIATION [DOID:0110600, MONDO:Lexical, OMIM:615872] -synonym: "ciliary dyskinesia, primary, 29" RELATED [MONDO:Lexical, OMIM:615872] -synonym: "ciliary dyskinesia, primary, 29, without situs inversus" RELATED [OMIM:615872] -synonym: "ciliary dyskinesia, primary, type 29" EXACT [MONDORULE:2, OMIM:615872] +synonym: "CILD29" EXACT ABBREVIATION [DOID:0110600, MONDO:Lexical, NCIT:C172393, OMIM:615872] +synonym: "ciliary dyskinesia, primary, 29" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 29, without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 29" EXACT [MONDORULE:2] synonym: "primary ciliary dyskinesia 29 without situs inversus" EXACT [DOID:0110600] synonym: "primary ciliary dyskinesia caused by mutation in CCNO" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 29" EXACT [DOID:0110600, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 29" EXACT [MONDORULE:2] xref: DOID:0110600 {source="MONDO:equivalentTo"} xref: GARD:16025 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110600"} @@ -331676,15 +331736,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:404448"} subset: orphanet_rare {source="Orphanet:404448"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ADNP Syndrome" EXACT [NORD:1965] -synonym: "ADNP syndrome" EXACT [GARD:0012931, NORD:1965] +synonym: "ADNP Syndrome" EXACT [NORD:1965, Orphanet:404448] +synonym: "ADNP syndrome" EXACT [GARD:0012931, NORD:1965, Orphanet:404448] synonym: "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder" EXACT CLINGEN_LABEL [] -synonym: "autosomal dominant intellectual disability 28" EXACT [DOID:0070058] +synonym: "autosomal dominant intellectual disability 28" EXACT [] synonym: "autosomal dominant mental retardation 28" EXACT DEPRECATED [DOID:0070058] -synonym: "Helsmoortel-Van der Aa syndrome" EXACT [GARD:0012931, MONDO:Lexical, OMIM:615873] -synonym: "HVDAS" EXACT ABBREVIATION [DOID:0070058, GARD:0012931, MONDO:Lexical, OMIM:615873] -synonym: "intellectual disability, autosomal dominant 28" RELATED [OMIM:615873] -synonym: "mental retardation, autosomal dominant 28" RELATED DEPRECATED [OMIM:615873] +synonym: "Helsmoortel-Van der Aa syndrome" EXACT [DOID:0070058, GARD:0012931, MONDO:Lexical, OMIM:615873, Orphanet:404448] +synonym: "HVDAS" EXACT ABBREVIATION [DOID:0070058, GARD:0012931, MONDO:Lexical, OMIM:615873, Orphanet:404448] +synonym: "intellectual disability, autosomal dominant 28" RELATED [] +synonym: "mental retardation, autosomal dominant 28" RELATED DEPRECATED [] synonym: "MRD28" EXACT ABBREVIATION [DOID:0070058] xref: DOID:0070058 {source="MONDO:equivalentTo"} xref: GARD:12931 {source="MONDO:GARD"} @@ -331712,14 +331772,14 @@ subset: ordo_disorder {source="Orphanet:424099"} subset: ordo_malformation_syndrome {source="Orphanet:424099"} subset: orphanet_rare {source="Orphanet:424099"} subset: rare -synonym: "MCOPS14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615877] -synonym: "MCSKS" RELATED ABBREVIATION [OMIM:615877] -synonym: "microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia" RELATED [OMIM:615877] -synonym: "microphthalmia or coloboma with or without rhizomelic skeletal dysplasia" RELATED [OMIM:615877] -synonym: "microphthalmia, syndromic 14" RELATED [MONDO:Lexical, OMIM:615877] -synonym: "microphthalmia, syndromic type 14" EXACT [MONDORULE:2, OMIM:615877] +synonym: "MCOPS14" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "MCSKS" RELATED ABBREVIATION [] +synonym: "microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia" RELATED [] +synonym: "microphthalmia or coloboma with or without rhizomelic skeletal dysplasia" RELATED [] +synonym: "microphthalmia, syndromic 14" RELATED [MONDO:Lexical] +synonym: "microphthalmia, syndromic type 14" EXACT [MONDORULE:2] synonym: "microphthalmia-coloboma-rhizomelic skeletal dysplasia" EXACT [Orphanet:424099] -synonym: "microphthalmia/coloboma and skeletal dysplasia syndrome" RELATED [OMIM:615877] +synonym: "microphthalmia/coloboma and skeletal dysplasia syndrome" RELATED [] xref: DOID:0111802 {source="MONDO:equivalentTo"} xref: GARD:17707 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:424099/attributed", source="Orphanet:424099/ntbt", source="Orphanet:424099"} @@ -331743,12 +331803,12 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:480483"} subset: rare synonym: "cholestasis, progressive familial intrahepatic 4" RELATED [GARD:0009803] synonym: "cholestasis, progressive familial intrahepatic, 4" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615878] -synonym: "cholestasis, progressive familial intrahepatic, type 4" EXACT [MONDORULE:1, OMIM:615878] -synonym: "PFIC4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615878, Orphanet:480483] +synonym: "cholestasis, progressive familial intrahepatic, type 4" EXACT [MONDORULE:1] +synonym: "PFIC4" EXACT ABBREVIATION [DOID:0070224, MONDO:Lexical, OMIM:615878, Orphanet:480483] synonym: "progressive familial intrahepatic cholestasis 4" RELATED [GARD:0009803] synonym: "progressive familial intrahepatic cholestasis caused by mutation in TJP2" EXACT [MONDO:design_pattern] -synonym: "progressive familial intrahepatic cholestasis type 4" EXACT [] -synonym: "TJP2 deficit" EXACT [Orphanet:480483] +synonym: "progressive familial intrahepatic cholestasis type 4" EXACT [Orphanet:480483] +synonym: "TJP2 deficit" EXACT [DOID:0070224, Orphanet:480483] synonym: "TJP2 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070224 {source="MONDO:equivalentTo"} xref: GARD:9803 {source="MONDO:GARD"} @@ -331777,11 +331837,11 @@ subset: orphanet_rare {source="Orphanet:404443"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DNMT3A-related overgrowth syndrome" EXACT [Orphanet:404443] -synonym: "tall stature-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:404443] +synonym: "tall stature-intellectual disability-facial dysmorphism syndrome" EXACT [] synonym: "Tatton Brown Rahman Syndrome" EXACT [NORD:102279] -synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT CLINGEN_LABEL [Orphanet:404443] -synonym: "TATTON-BROWN-Rahman syndrome" RELATED [MONDO:Lexical, OMIM:615879] -synonym: "TBRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615879] +synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT CLINGEN_LABEL [DOID:0112339, Orphanet:404443] +synonym: "TATTON-BROWN-Rahman syndrome" RELATED [MONDO:Lexical] +synonym: "TBRS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0112339 {source="MONDO:equivalentTo"} xref: GARD:17674 {source="MONDO:GARD"} xref: ICD10CM:Q87.3 {source="Orphanet:404443/attributed", source="Orphanet:404443/ntbt", source="Orphanet:404443"} @@ -331807,9 +331867,9 @@ def: "Any tubular aggregate myopathy in which the cause of the disease is a muta subset: gard_rare {source="GARD:16026", source="MONDO:GARD"} subset: rare synonym: "myopathy, tubular aggregate, 2" EXACT [MONDO:Lexical, OMIM:615883] -synonym: "myopathy, tubular aggregate, type 2" EXACT [MONDORULE:1, OMIM:615883] +synonym: "myopathy, tubular aggregate, type 2" EXACT [MONDORULE:1] synonym: "ORAI1 tubular aggregate myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "TAM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615883] +synonym: "TAM2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "tubular aggregate myopathy caused by mutation in ORAI1" EXACT [MONDO:design_pattern] xref: DOID:0080686 {source="MONDO:equivalentTo"} xref: GARD:16026 {source="MONDO:GARD"} @@ -331829,11 +331889,11 @@ def: "Any hypotrichosis in which the cause of the disease is a mutation in the R subset: gard_rare {source="GARD:16027", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hypotrichosis 12" EXACT [MONDO:Lexical, OMIM:615885] +synonym: "hypotrichosis 12" EXACT [DOID:0110709, MONDO:Lexical, OMIM:615885] synonym: "hypotrichosis caused by mutation in RPL21" EXACT [MONDO:design_pattern] -synonym: "hypotrichosis type 12" EXACT [DOID:0110709, MONDORULE:2, OMIM:615885] -synonym: "HYPT12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615885] -synonym: "hypt12" EXACT [DOID:0110709] +synonym: "hypotrichosis type 12" EXACT [MONDORULE:2] +synonym: "HYPT12" EXACT ABBREVIATION [DOID:0110709, OMIM:615885] +synonym: "hypt12" EXACT [] synonym: "RPL21 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110709 {source="MONDO:equivalentTo"} xref: GARD:16027 {source="MONDO:GARD"} @@ -331857,8 +331917,8 @@ synonym: "AI2A5" EXACT ABBREVIATION [DOID:0110063, MONDO:Lexical, OMIM:615887] synonym: "amelogenesis imperfecta caused by mutation in SLC24A4" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation type IIA5" EXACT [DOID:0110063] synonym: "amelogenesis imperfecta type IIA5" EXACT [DOID:0110063] -synonym: "amelogenesis imperfecta, hypomaturation type, IIA5" RELATED [MONDO:Lexical, OMIM:615887] -synonym: "amelogenesis imperfecta, type IIA5" EXACT [OMIM:615887, OMIM:genemap2] +synonym: "amelogenesis imperfecta, hypomaturation type, IIA5" RELATED [MONDO:Lexical] +synonym: "amelogenesis imperfecta, type IIA5" EXACT [] synonym: "SLC24A4 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110063 {source="MONDO:equivalentTo"} xref: GARD:16028 {source="MONDO:GARD"} @@ -331888,10 +331948,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDPLT18" EXACT ABBREVIATION [DOID:0111051, MONDO:Lexical, OMIM:615888] synonym: "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency" EXACT [DOID:0111051, Orphanet:420566] -synonym: "bleeding disorder due to CalDAG-GEFI deficiency" EXACT [DOID:0111051] -synonym: "bleeding disorder, platelet-type, 18" RELATED [MONDO:Lexical, OMIM:615888] +synonym: "bleeding disorder due to CalDAG-GEFI deficiency" EXACT [DOID:0111051, Orphanet:420566] +synonym: "bleeding disorder, platelet-type, 18" RELATED [MONDO:Lexical] synonym: "inherited bleeding disorder, platelet-type caused by mutation in RASGRP2" EXACT [MONDO:design_pattern] -synonym: "platelet-type bleeding disorder 18" EXACT CLINGEN_LABEL [] +synonym: "platelet-type bleeding disorder 18" EXACT CLINGEN_LABEL [DOID:0111051] synonym: "RASGRP2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111051 {source="MONDO:equivalentTo"} xref: GARD:17695 {source="MONDO:GARD"} @@ -331914,7 +331974,7 @@ subset: gard_rare {source="GARD:18252", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "leukoencephalopathy, progressive, with ovarian failure" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615889] -synonym: "LKENP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615889] +synonym: "LKENP" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070396 {source="MONDO:equivalentTo"} xref: GARD:18252 {source="MONDO:GARD"} xref: MEDGEN:863025 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -331939,8 +331999,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:401942"} subset: orphanet_rare {source="Orphanet:401942"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OFC14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615892] -synonym: "orofacial cleft 14" RELATED [MONDO:Lexical, OMIM:615892] +synonym: "OFC14" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "orofacial cleft 14" RELATED [MONDO:Lexical] xref: DOID:0080407 {source="MONDO:equivalentTo"} xref: GARD:17663 {source="MONDO:GARD"} xref: ICD10CM:Q36.1 {source="Orphanet:401942/attributed", source="Orphanet:401942/ntbt", source="Orphanet:401942"} @@ -331964,7 +332024,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "PGBM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615895, Orphanet:397937] synonym: "polyglucosan body myopathy 1 with or without immunodeficiency" EXACT [MONDO:Lexical, OMIM:615895] -synonym: "polyglucosan body myopathy type 1" EXACT [MONDO:0018348] +synonym: "polyglucosan body myopathy type 1" EXACT [MONDO:0018348, Orphanet:397937] synonym: "polyglucosan body myopathy, early-onset, with or without immunodeficiency" EXACT [OMIM:615895] xref: GARD:17643 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:397937/attributed", source="Orphanet:397937/ntbt", source="Orphanet:397937"} @@ -331990,13 +332050,13 @@ def: "Any hypotrichosis in which the cause of the disease is a mutation in the K subset: gard_rare {source="GARD:16029", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hypotrichosis 13" EXACT [MONDO:Lexical, OMIM:615896] +synonym: "hypotrichosis 13" EXACT [DOID:0110710, MONDO:Lexical, OMIM:615896] synonym: "hypotrichosis caused by mutation in KRT71" EXACT [MONDO:design_pattern] -synonym: "hypotrichosis type 13" EXACT [DOID:0110710, MONDORULE:2, OMIM:615896] -synonym: "hypotrichosis with woolly hair" EXACT OMO:0003005 [] -synonym: "hypotrichosis with wooly hair" EXACT [DOID:0110710, OMIM:615896] -synonym: "HYPT13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615896] -synonym: "hypt13" EXACT [DOID:0110710] +synonym: "hypotrichosis type 13" EXACT [MONDORULE:2] +synonym: "hypotrichosis with woolly hair" EXACT OMO:0003005 [DOID:0110710, OMIM:615896] +synonym: "hypotrichosis with wooly hair" EXACT [] +synonym: "HYPT13" EXACT ABBREVIATION [DOID:0110710, OMIM:615896] +synonym: "hypt13" EXACT [] synonym: "KRT71 hypotrichosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110710 {source="MONDO:equivalentTo"} xref: GARD:16029 {source="MONDO:GARD"} @@ -332020,10 +332080,10 @@ subset: ordo_disorder {source="Orphanet:420573"} subset: orphanet_rare {source="Orphanet:420573"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615897] -synonym: "immunodeficiency 24" RELATED [MONDO:Lexical, OMIM:615897] -synonym: "immunodeficiency type 24" EXACT [MONDORULE:2, OMIM:615897] -synonym: "SCID due to CTPS1 deficiency" EXACT [Orphanet:420573] +synonym: "IMD24" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 24" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 24" EXACT [MONDORULE:2] +synonym: "SCID due to CTPS1 deficiency" EXACT [DOID:0111938, Orphanet:420573] xref: DOID:0111938 {source="MONDO:equivalentTo"} xref: GARD:17696 {source="MONDO:GARD"} xref: ICD10CM:D81.2 {source="Orphanet:420573", source="Orphanet:420573/attributed", source="Orphanet:420573/ntbt"} @@ -332042,14 +332102,14 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:12901", source="MONDO:GARD"} subset: nord_rare {source="NORD:1914", source="MONDO:NORD"} subset: rare -synonym: "DEE25" EXACT ABBREVIATION [OMIM:615905] -synonym: "developmental and epileptic encephalopathy 25, with amelogenesis imperfecta" EXACT [OMIM:615905, OMIM:genemap2] +synonym: "DEE25" EXACT ABBREVIATION [DOID:0080453, OMIM:615905] +synonym: "developmental and epileptic encephalopathy 25, with amelogenesis imperfecta" EXACT [DOID:0080453] synonym: "developmental and epileptic encephalopathy, 25" EXACT CLINGEN_LABEL [] -synonym: "early infantile epileptic encephalopathy 25" EXACT [GARD:0012901] +synonym: "early infantile epileptic encephalopathy 25" EXACT [DOID:0080453, GARD:0012901] synonym: "early infantile epileptic encephalopathy caused by mutation in SLC13A5" EXACT [MONDO:design_pattern] -synonym: "EIEE25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615905] -synonym: "epileptic encephalopathy, early infantile, 25" EXACT [MONDO:Lexical, OMIM:615905] -synonym: "epileptic encephalopathy, early infantile, type 25" EXACT [MONDORULE:2, OMIM:615905] +synonym: "EIEE25" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "epileptic encephalopathy, early infantile, 25" EXACT [MONDO:Lexical] +synonym: "epileptic encephalopathy, early infantile, type 25" EXACT [MONDORULE:2] synonym: "SLC13A5 Citrate Transporter Disorder" EXACT [NORD:1914] synonym: "SLC13A5 deficiency" RELATED [GARD:0012901] synonym: "SLC13A5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -332076,9 +332136,9 @@ subset: gard_rare {source="GARD:16468", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hereditary lymphedema caused by mutation in VEGFC" EXACT [MONDO:design_pattern] -synonym: "LMPH1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615907] -synonym: "lymphedema, hereditary, 1D" EXACT [MONDO:Lexical, OMIM:615907] -synonym: "lymphedema, hereditary, type 1D" EXACT [MONDORULE:4, OMIM:615907] +synonym: "LMPH1D" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lymphedema, hereditary, 1D" EXACT [MONDO:Lexical] +synonym: "lymphedema, hereditary, type 1D" EXACT [MONDORULE:4] synonym: "VEGFC hereditary lymphedema" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070209 {source="MONDO:equivalentTo"} xref: GARD:16468 {source="MONDO:GARD"} @@ -332096,12 +332156,12 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:16030", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615909] +synonym: "DBA13" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Diamond-Blackfan anaemia caused by mutation in RPS29" EXACT OMO:0003005 [] synonym: "Diamond-Blackfan Anaemia type 13" EXACT OMO:0003005 [] -synonym: "Diamond-Blackfan anemia 13" EXACT [MONDO:Lexical, OMIM:615909] +synonym: "Diamond-Blackfan anemia 13" EXACT [DOID:0111889, MONDO:Lexical, OMIM:615909] synonym: "Diamond-Blackfan anemia caused by mutation in RPS29" EXACT [MONDO:design_pattern] -synonym: "Diamond-Blackfan Anemia type 13" EXACT [MONDORULE:2, OMIM:615909] +synonym: "Diamond-Blackfan Anemia type 13" EXACT [MONDORULE:2] synonym: "RPS29 Diamond-Blackfan anaemia" EXACT OMO:0003005 [] synonym: "RPS29 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111889 {source="MONDO:equivalentTo"} @@ -332124,8 +332184,8 @@ subset: gard_rare {source="GARD:18397", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 2" EXACT [DOID:0060214, MONDO:Lexical, OMIM:615911] -synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 2" EXACT [MONDORULE:1, OMIM:615911] -synonym: "FTDALS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615911] +synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 2" EXACT [MONDORULE:1] +synonym: "FTDALS2" EXACT ABBREVIATION [DOID:0060214, MONDO:Lexical, OMIM:615911] xref: DOID:0060214 {source="MONDO:equivalentTo"} xref: GARD:18397 {source="MONDO:GARD"} xref: MEDGEN:863085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332145,10 +332205,10 @@ def: "Any familial isolated dilated cardiomyopathy in which the cause of the dis subset: gard_rare {source="GARD:16031", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, dilated, 1NN" RELATED [MONDO:Lexical, OMIM:615916] -synonym: "cardiomyopathy, dilated, type 1Nn" EXACT [MONDORULE:9, OMIM:615916] +synonym: "cardiomyopathy, dilated, 1NN" RELATED [MONDO:Lexical] +synonym: "cardiomyopathy, dilated, type 1Nn" EXACT [MONDORULE:9] synonym: "CMD1NN" EXACT ABBREVIATION [DOID:0110432, MONDO:Lexical, OMIM:615916] -synonym: "dilated cardiomyopathy type 1NN" EXACT [DOID:0110432, MONDORULE:9] +synonym: "dilated cardiomyopathy type 1NN" EXACT [MONDORULE:9] synonym: "familial isolated dilated cardiomyopathy caused by mutation in RAF1" EXACT [MONDO:design_pattern] synonym: "RAF1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110432 {source="MONDO:equivalentTo"} @@ -332170,10 +332230,10 @@ subset: ordo_disorder {source="Orphanet:420728"} subset: orphanet_rare {source="Orphanet:420728"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 20" RELATED [MONDO:Lexical, OMIM:615917] +synonym: "combined oxidative phosphorylation deficiency 20" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in VARS2" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 20" EXACT [MONDORULE:2, OMIM:615917] -synonym: "COXPD20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615917, Orphanet:420728] +synonym: "combined oxidative phosphorylation deficiency type 20" EXACT [MONDORULE:2] +synonym: "COXPD20" EXACT ABBREVIATION [DOID:0111478, MONDO:Lexical, OMIM:615917, Orphanet:420728] synonym: "VARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111478 {source="MONDO:equivalentTo"} xref: GARD:17699 {source="MONDO:GARD"} @@ -332197,10 +332257,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:420733"} subset: orphanet_rare {source="Orphanet:420733"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 21" RELATED [MONDO:Lexical, OMIM:615918] +synonym: "combined oxidative phosphorylation deficiency 21" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in TARS2" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 21" EXACT [MONDORULE:2, OMIM:615918] -synonym: "COXPD21" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615918, Orphanet:420733] +synonym: "combined oxidative phosphorylation deficiency type 21" EXACT [MONDORULE:2] +synonym: "COXPD21" EXACT ABBREVIATION [DOID:0111465, MONDO:Lexical, OMIM:615918, Orphanet:420733] synonym: "TARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111465 {source="MONDO:equivalentTo"} xref: GARD:17700 {source="MONDO:GARD"} @@ -332225,9 +332285,9 @@ subset: ordo_disorder {source="Orphanet:438134"} subset: orphanet_rare {source="Orphanet:438134"} subset: rare synonym: "ataxia-telangiectasia-like disorder 2" EXACT [MONDO:Lexical, OMIM:615919] -synonym: "ataxia-telangiectasia-like disorder type 2" EXACT [MONDORULE:1, OMIM:615919] -synonym: "ATLD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615919] -synonym: "PCNA-related progressive neurodegenerative photosensitivity syndrome" RELATED [Orphanet:438134] +synonym: "ataxia-telangiectasia-like disorder type 2" EXACT [MONDORULE:1] +synonym: "ATLD2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "PCNA-related progressive neurodegenerative photosensitivity syndrome" RELATED [] xref: DOID:0081385 {source="MONDO:equivalentTo"} xref: GARD:17736 {source="MONDO:GARD"} xref: ICD10CM:G11.3 {source="Orphanet:438134", source="Orphanet:438134/attributed", source="Orphanet:438134/ntbt"} @@ -332254,9 +332314,9 @@ subset: gard_rare {source="GARD:16032", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PRPF4 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 70" EXACT [MONDO:Lexical, OMIM:615922] +synonym: "retinitis pigmentosa 70" EXACT [DOID:0110392, MONDO:Lexical, OMIM:615922] synonym: "retinitis pigmentosa caused by mutation in PRPF4" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 70" EXACT [DOID:0110392, MONDORULE:2, OMIM:615922] +synonym: "retinitis pigmentosa type 70" EXACT [MONDORULE:2] synonym: "RP70" EXACT ABBREVIATION [DOID:0110392, MONDO:Lexical, OMIM:615922] xref: DOID:0110392 {source="MONDO:equivalentTo"} xref: GARD:16032 {source="MONDO:GARD"} @@ -332279,10 +332339,10 @@ subset: ordo_disorder {source="Orphanet:329191"} subset: orphanet_rare {source="Orphanet:329191"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ECDM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615923] -synonym: "epiphyseal chondrodysplasia, MIURA type" RELATED [MONDO:Lexical, OMIM:615923] -synonym: "Miura type epiphyseal chondrodysplasia" RELATED [DOID:0070316] -synonym: "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT [Orphanet:329191] +synonym: "ECDM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "epiphyseal chondrodysplasia, MIURA type" RELATED [MONDO:Lexical] +synonym: "Miura type epiphyseal chondrodysplasia" RELATED [] +synonym: "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT [DOID:0070316, Orphanet:329191] xref: DOID:0070316 {source="MONDO:equivalentTo"} xref: GARD:17495 {source="MONDO:GARD"} xref: MEDGEN:863127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332306,8 +332366,8 @@ subset: ordo_disorder {source="Orphanet:363400"} subset: orphanet_rare {source="Orphanet:363400"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "encephalopathy, progressive, with or without lipodystrophy" RELATED [MONDO:Lexical, OMIM:615924] -synonym: "PELD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615924] +synonym: "encephalopathy, progressive, with or without lipodystrophy" RELATED [MONDO:Lexical] +synonym: "PELD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "severe neurodegenerative syndrome due to BSCL2 deficiency" EXACT [Orphanet:363400] xref: GARD:17552 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:363400", source="Orphanet:363400/attributed", source="Orphanet:363400/ntbt"} @@ -332331,9 +332391,9 @@ subset: ordo_disorder {source="Orphanet:314811"} subset: orphanet_rare {source="Orphanet:314811"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GHDP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615925] +synonym: "GHDP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ghrelin receptor deficiency" EXACT [Orphanet:314811] -synonym: "growth hormone deficiency, isolated partial" RELATED [MONDO:Lexical, OMIM:615925] +synonym: "growth hormone deficiency, isolated partial" RELATED [MONDO:Lexical] synonym: "short stature due to growth hormone secretagogue receptor deficiency" EXACT [Orphanet:314811] xref: GARD:17436 {source="MONDO:GARD"} xref: ICD10CM:E34.3 {source="Orphanet:314811/attributed", source="Orphanet:314811/ntbt", source="Orphanet:314811"} @@ -332349,11 +332409,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014404 name: Webb-Dattani syndrome subset: otar {source="MONDO:OTAR"} -synonym: "hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome" EXACT [Orphanet:370006] -synonym: "hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies" RELATED [OMIM:615926] -synonym: "WEBB-Dattani syndrome" RELATED [OMIM:615926] +synonym: "hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome" EXACT [] +synonym: "hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies" RELATED [] +synonym: "WEBB-Dattani syndrome" RELATED [] synonym: "Webb-Dattani syndrome" EXACT [MONDO:Lexical, OMIM:615926] -synonym: "WEDAS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615926] +synonym: "WEDAS" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:863145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615926 {source="MONDO:equivalentTo"} xref: Orphanet:370006 {source="MONDO:equivalentObsolete", source="OMIM:615926"} @@ -332371,8 +332431,8 @@ subset: ordo_disorder {source="Orphanet:425120"} subset: orphanet_rare {source="Orphanet:425120"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SAVI" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615934, Orphanet:425120] -synonym: "STING-associated vasculopathy, infantile-onset" RELATED [MONDO:Lexical, OMIM:615934] +synonym: "SAVI" EXACT ABBREVIATION [DOID:0111457, MONDO:Lexical, OMIM:615934, Orphanet:425120] +synonym: "STING-associated vasculopathy, infantile-onset" RELATED [MONDO:Lexical] xref: DOID:0111457 {source="MONDO:equivalentTo"} xref: GARD:12357 {source="MONDO:GARD"} xref: ICD10CM:M35.8 {source="Orphanet:425120/attributed", source="Orphanet:425120/ntbt", source="Orphanet:425120"} @@ -332398,11 +332458,11 @@ def: "Any pancreatic agenesis in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:16033", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PAGEN2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615935] +synonym: "PAGEN2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pancreatic agenesis 2" EXACT [MONDO:Lexical, OMIM:615935] synonym: "pancreatic agenesis caused by mutation in PTF1A" EXACT [MONDO:design_pattern] -synonym: "pancreatic agenesis type 2" EXACT [MONDORULE:1, OMIM:615935] -synonym: "pancreatic hypoplasia, congenital 2" RELATED [OMIM:615935] +synonym: "pancreatic agenesis type 2" EXACT [MONDORULE:1] +synonym: "pancreatic hypoplasia, congenital 2" RELATED [] synonym: "PTF1A pancreatic agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16033 {source="MONDO:GARD"} xref: MEDGEN:863174 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332424,9 +332484,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" EXACT [MONDO:Lexical, OMIM:615937] -synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2" EXACT [MONDORULE:1, OMIM:615937] +synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2" EXACT [MONDORULE:1] synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3" EXACT [MONDO:design_pattern] -synonym: "MPPH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615937] +synonym: "MPPH2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18078 {source="MONDO:GARD"} xref: MEDGEN:863175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615937 {source="MONDO:equivalentTo"} @@ -332449,9 +332509,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" EXACT [MONDO:Lexical, OMIM:615938] -synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3" EXACT [MONDORULE:1, OMIM:615938] +synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3" EXACT [MONDORULE:1] synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2" EXACT [MONDO:design_pattern] -synonym: "MPPH3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615938] +synonym: "MPPH3" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18079 {source="MONDO:GARD"} xref: MEDGEN:863179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615938 {source="MONDO:equivalentTo"} @@ -332470,12 +332530,12 @@ subset: gard_rare {source="GARD:22566", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal recessive 44" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615942] -synonym: "intellectual disability, autosomal recessive type 44" EXACT [MONDORULE:2, OMIM:615942] -synonym: "mental retardation, autosomal recessive 44" RELATED DEPRECATED [MONDO:Lexical, OMIM:615942] -synonym: "mental retardation, autosomal recessive type 44" EXACT DEPRECATED [MONDORULE:2, OMIM:615942] +synonym: "intellectual disability, autosomal recessive 44" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 44" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 44" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 44" EXACT DEPRECATED [MONDORULE:2] synonym: "METTL23 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MRT44" RELATED DEPRECATED [MONDO:Lexical, OMIM:615942] +synonym: "MRT44" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081208 {source="MONDO:equivalentTo"} xref: GARD:22566 {source="MONDO:GARD"} xref: MEDGEN:863182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332497,7 +332557,7 @@ subset: orphanet_rare {source="Orphanet:363710"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCA37" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615945, Orphanet:363710] -synonym: "spinocerebellar ataxia 37" RELATED [MONDO:Lexical, OMIM:615945] +synonym: "spinocerebellar ataxia 37" RELATED [MONDO:Lexical] synonym: "spinocerebellar ataxia with altered vertical eye movements" EXACT [Orphanet:363710] xref: DOID:0050984 {source="MONDO:equivalentTo"} xref: GARD:12368 {source="MONDO:GARD"} @@ -332514,7 +332574,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014411 name: myopia 24, autosomal dominant synonym: "myopia 24, autosomal dominant" EXACT [MONDO:Lexical, OMIM:615946] -synonym: "MYP24" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615946] +synonym: "MYP24" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:863199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615946 {source="MONDO:equivalentTo"} xref: UMLS:C4014762 {source="MEDGEN:863199", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332533,8 +332593,8 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:535458"} subset: rare synonym: "familial hyperlipidemia caused by mutation in GPIHBP1" EXACT [MONDO:design_pattern] synonym: "GPIHBP1 familial hyperlipidemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hyperlipoproteinemia, type 1D" EXACT CLINGEN_LABEL [] -synonym: "hyperlipoproteinemia, type ID" RELATED [OMIM:615947] +synonym: "hyperlipoproteinemia, type 1D" EXACT CLINGEN_LABEL [OMIM:615947] +synonym: "hyperlipoproteinemia, type ID" RELATED [] xref: DOID:0111420 {source="MONDO:equivalentTo"} xref: GARD:17973 {source="MONDO:GARD"} xref: MEDGEN:863204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332566,10 +332626,10 @@ synonym: "C2CD3 orofaciodigital syndrome" EXACT [MONDO:design_pattern, MONDO:pat synonym: "microcephaly-cerebral malformation-orofaciodigital syndrome" EXACT [Orphanet:434179] synonym: "OFD14" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615948, Orphanet:434179] synonym: "oral-facial-digital syndrome type 14" EXACT [Orphanet:434179] -synonym: "orofaciodigital syndrome 14" RELATED [OMIM:615948] +synonym: "orofaciodigital syndrome 14" RELATED [] synonym: "orofaciodigital syndrome caused by mutation in C2CD3" EXACT [MONDO:design_pattern] -synonym: "orofaciodigital syndrome type 14" EXACT [MONDORULE:2, OMIM:615948] -synonym: "orofaciodigital syndrome XIV" RELATED [MONDO:Lexical, OMIM:615948] +synonym: "orofaciodigital syndrome type 14" EXACT [MONDORULE:2, Orphanet:434179] +synonym: "orofaciodigital syndrome XIV" RELATED [MONDO:Lexical] xref: DOID:0060958 {source="MONDO:equivalentTo"} xref: GARD:13655 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:434179", source="Orphanet:434179/ntbt", source="Orphanet:434179/inclusion"} @@ -332597,10 +332657,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:438159"} subset: orphanet_rare {source="Orphanet:438159"} subset: rare -synonym: "ADMIO" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615952] -synonym: "ADMIO1" RELATED ABBREVIATION [OMIM:615952] -synonym: "autoimmune disease, multisystem, infantile-onset" RELATED [MONDO:Lexical, OMIM:615952] -synonym: "autoimmune disease, multisystem, infantile-onset, 1" RELATED [OMIM:615952] +synonym: "ADMIO" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ADMIO1" RELATED ABBREVIATION [] +synonym: "autoimmune disease, multisystem, infantile-onset" RELATED [MONDO:Lexical] +synonym: "autoimmune disease, multisystem, infantile-onset, 1" RELATED [] xref: GARD:17737 {source="MONDO:GARD"} xref: ICD10CM:M35.8 {source="Orphanet:438159/attributed", source="Orphanet:438159/ntbt", source="Orphanet:438159"} xref: MEDGEN:863232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332620,7 +332680,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014415 name: kallikrein, decreased urinary activity of subset: otar {source="MONDO:OTAR"} -synonym: "kallikrein, decreased urinary activity of" EXACT [OMIM:615953, OMIM:genemap2] +synonym: "kallikrein, decreased urinary activity of" EXACT [OMIM:615953] xref: MEDGEN:322759 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C563653 {source="MONDO:equivalentTo"} xref: OMIM:615953 {source="MONDO:equivalentTo"} @@ -332636,13 +332696,13 @@ def: "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the subset: gard_rare {source="GARD:16034", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ACTH-independent macronodular adrenal hyperplasia 2" EXACT [MONDO:Lexical, OMIM:615954] -synonym: "ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation" EXACT [OMIM:615954, OMIM:genemap2] -synonym: "ACTH-independent macronodular adrenal hyperplasia type 2" EXACT [MONDORULE:1, OMIM:615954] -synonym: "AIMAH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615954] +synonym: "ACTH-independent macronodular adrenal hyperplasia 2" EXACT [DOID:0111624, MONDO:Lexical, OMIM:615954] +synonym: "ACTH-independent macronodular adrenal hyperplasia 2, autosomal dominant, somatic mutation" EXACT [] +synonym: "ACTH-independent macronodular adrenal hyperplasia type 2" EXACT [MONDORULE:1] +synonym: "AIMAH2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5" EXACT [MONDO:design_pattern] -synonym: "primary macronodular adrenal hyperplasia" RELATED [OMIM:615954] +synonym: "primary macronodular adrenal hyperplasia" RELATED [] xref: DOID:0111624 {source="MONDO:equivalentTo"} xref: GARD:16034 {source="MONDO:GARD"} xref: MEDGEN:863240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332665,8 +332725,8 @@ subset: ordo_disorder {source="Orphanet:423296"} subset: orphanet_rare {source="Orphanet:423296"} subset: rare synonym: "SCA38" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615957, Orphanet:423296] -synonym: "spinocerebellar ataxia 38" RELATED [MONDO:Lexical, OMIM:615957] -synonym: "spinocerebellar ataxia type 38" EXACT [MONDORULE:2, OMIM:615957] +synonym: "spinocerebellar ataxia 38" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 38" EXACT [DOID:0050985, MONDORULE:2, Orphanet:423296] xref: DOID:0050985 {source="MONDO:equivalentTo"} xref: GARD:12369 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:423296/attributed", source="Orphanet:423296/ntbt", source="Orphanet:423296"} @@ -332688,10 +332748,10 @@ subset: gard_rare {source="GARD:16035", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive centronuclear myopathy caused by mutation in SPEG" EXACT [MONDO:design_pattern] -synonym: "centronuclear myopathy 5" EXACT [OMIM:615959, OMIM:genemap2] -synonym: "CNM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615959] +synonym: "centronuclear myopathy 5" EXACT [DOID:0111222] +synonym: "CNM5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "myopathy, centronuclear, 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615959] -synonym: "myopathy, centronuclear, type 5" EXACT [MONDORULE:1, OMIM:615959] +synonym: "myopathy, centronuclear, type 5" EXACT [MONDORULE:1] synonym: "SPEG autosomal recessive centronuclear myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111222 {source="MONDO:equivalentTo"} xref: GARD:16035 {source="MONDO:GARD"} @@ -332718,9 +332778,9 @@ subset: orphanet_rare {source="Orphanet:370022"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome" EXACT CLINGEN_LABEL [] -synonym: "PORETTI-Boltshauser syndrome" RELATED [MONDO:Lexical, OMIM:615960] -synonym: "Poretti-Boltshauser syndrome" EXACT [Orphanet:370022] -synonym: "PTBHS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615960] +synonym: "PORETTI-Boltshauser syndrome" RELATED [MONDO:Lexical] +synonym: "Poretti-Boltshauser syndrome" EXACT [OMIM:615960, Orphanet:370022] +synonym: "PTBHS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17597 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:370022", source="Orphanet:370022/attributed", source="Orphanet:370022/ntbt"} xref: MEDGEN:863258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332744,9 +332804,9 @@ subset: ordo_disorder {source="Orphanet:140941"} subset: orphanet_rare {source="Orphanet:140941"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acid-labile SUBUNIT deficiency" RELATED [MONDO:Lexical, OMIM:615961] -synonym: "acid-labile subunit, deficiency of" EXACT [OMIM:615961, OMIM:genemap2] -synonym: "ACLSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615961] +synonym: "acid-labile SUBUNIT deficiency" RELATED [MONDO:Lexical] +synonym: "acid-labile subunit, deficiency of" EXACT [] +synonym: "ACLSD" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16964 {source="MONDO:GARD"} xref: ICD10CM:E34.3 {source="Orphanet:140941", source="Orphanet:140941/attributed", source="Orphanet:140941/ntbt"} xref: icd11.foundation:29735645 {source="MONDO:equivalentTo"} @@ -332769,14 +332829,14 @@ subset: ordo_disorder {source="Orphanet:786"} subset: orphanet_rare {source="Orphanet:786"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cortisol resistance from glucocorticoid receptor defect" RELATED [OMIM:615962] -synonym: "GCCR" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615962] -synonym: "Gccr deficiency" RELATED [OMIM:615962] -synonym: "Gcr deficiency" RELATED [OMIM:615962] -synonym: "glucocorticoid receptor deficiency" RELATED [OMIM:615962] +synonym: "cortisol resistance from glucocorticoid receptor defect" RELATED [] +synonym: "GCCR" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Gccr deficiency" RELATED [] +synonym: "Gcr deficiency" RELATED [] +synonym: "glucocorticoid receptor deficiency" RELATED [] synonym: "glucocorticoid resistance, generalised" RELATED OMO:0003005 [] -synonym: "glucocorticoid resistance, generalized" RELATED [MONDO:Lexical, OMIM:615962] -synonym: "Grl deficiency" RELATED [OMIM:615962] +synonym: "glucocorticoid resistance, generalized" RELATED [MONDO:Lexical] +synonym: "Grl deficiency" RELATED [] xref: GARD:2499 {source="MONDO:GARD"} xref: ICD10CM:E25.8 {source="Orphanet:786", source="Orphanet:786/attributed", source="Orphanet:786/ntbt"} xref: icd11.foundation:125216923 {source="Orphanet:786", source="MONDO:equivalentTo"} @@ -332801,8 +332861,8 @@ subset: rare synonym: "TNXB vesicoureteral reflux (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "vesicoureteral reflux (disease) caused by mutation in TNXB" EXACT [] synonym: "vesicoureteral reflux 8" EXACT [MONDO:Lexical, OMIM:615963] -synonym: "vesicoureteral reflux type 8" EXACT [MONDORULE:1, OMIM:615963] -synonym: "VUR8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615963] +synonym: "vesicoureteral reflux type 8" EXACT [MONDORULE:1] +synonym: "VUR8" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18425 {source="MONDO:GARD"} xref: MEDGEN:863268 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615963 {source="MONDO:equivalentTo"} @@ -332824,10 +332884,10 @@ subset: ordo_disorder {source="Orphanet:317425"} subset: orphanet_rare {source="Orphanet:317425"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD26" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615966] -synonym: "immunodeficiency 26 with or without neurologic abnormalities" RELATED [MONDO:Lexical, OMIM:615966] -synonym: "immunodeficiency 26, with or without neurologic abnormalities" EXACT [OMIM:615966, OMIM:genemap2] -synonym: "SCID due to DNA-PKcs deficiency" EXACT [Orphanet:317425] +synonym: "IMD26" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 26 with or without neurologic abnormalities" RELATED [MONDO:Lexical] +synonym: "immunodeficiency 26, with or without neurologic abnormalities" EXACT [DOID:0111961] +synonym: "SCID due to DNA-PKcs deficiency" EXACT [DOID:0111961, Orphanet:317425] xref: DOID:0111961 {source="MONDO:equivalentTo"} xref: GARD:17441 {source="MONDO:GARD"} xref: ICD10CM:D81.1 {source="Orphanet:317425", source="Orphanet:317425/attributed", source="Orphanet:317425/ntbt"} @@ -332848,8 +332908,8 @@ def: "OBSOLETE. Congenital deficiency in alpha-fetoprotein is a benign genetic c comment: This is a biological anomaly and not a disease. subset: ordo_biological_anomaly {source="Orphanet:168612"} subset: ordo_disorder {source="Orphanet:168612"} -synonym: "AFPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615969] -synonym: "ALPHA-fetoprotein deficiency" RELATED [MONDO:Lexical, OMIM:615969] +synonym: "AFPD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ALPHA-fetoprotein deficiency" RELATED [MONDO:Lexical] xref: MESH:C566300 {source="MONDO:obsoleteEquivalent"} xref: OMIM:615969 {source="MONDO:obsoleteEquivalent", source="Orphanet:168612", source="Orphanet:168612/e"} xref: Orphanet:168612 {source="MONDO:obsoleteEquivalent", source="OMIM:615969"} @@ -332864,9 +332924,9 @@ def: "OBSOLETE. Hereditary persistence of alpha-fetoprotein is a benign genetic comment: This is a biological anomaly and not a disease. subset: ordo_biological_anomaly {source="Orphanet:168615"} subset: ordo_disorder {source="Orphanet:168615"} -synonym: "ALPHA-fetoprotein, hereditary persistence OF" RELATED [MONDO:Lexical, OMIM:615970] -synonym: "hereditary persistence of alpha-fetoprotein" EXACT [OMIM:615970, OMIM:genemap2] -synonym: "HPAFP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615970] +synonym: "ALPHA-fetoprotein, hereditary persistence OF" RELATED [MONDO:Lexical] +synonym: "hereditary persistence of alpha-fetoprotein" EXACT [] +synonym: "HPAFP" RELATED ABBREVIATION [MONDO:Lexical] xref: OMIM:615970 {source="MONDO:obsoleteEquivalent", source="Orphanet:168615", source="Orphanet:168615/e"} xref: Orphanet:168615 {source="MONDO:obsoleteEquivalent", source="OMIM:615970"} xref: SCTID:716697002 {source="MONDO:obsoleteEquivalent"} @@ -332882,11 +332942,11 @@ def: "Any nanophthalmia in which the cause of the disease is a mutation in the T subset: gard_rare {source="GARD:18629", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Nanophthalmia 4" RELATED [OMIM:615972] +synonym: "Nanophthalmia 4" RELATED [] synonym: "nanophthalmia caused by mutation in TMEM98" EXACT [MONDO:design_pattern] synonym: "nanophthalmos 4" EXACT [MONDO:Lexical, OMIM:615972] -synonym: "nanophthalmos type 4" EXACT [MONDORULE:1, OMIM:615972] -synonym: "NNO4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615972] +synonym: "nanophthalmos type 4" EXACT [MONDORULE:1] +synonym: "NNO4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TMEM98 nanophthalmia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18629 {source="MONDO:GARD"} xref: MEDGEN:863285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332906,9 +332966,9 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:16036", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 20" EXACT [MONDO:Lexical, OMIM:615973] +synonym: "cone-rod dystrophy 20" EXACT [DOID:0111026, MONDO:Lexical, OMIM:615973] synonym: "cone-rod dystrophy caused by mutation in POC1B" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 20" EXACT [DOID:0111026, MONDORULE:2, OMIM:615973] +synonym: "cone-rod dystrophy type 20" EXACT [MONDORULE:2] synonym: "CORD20" EXACT ABBREVIATION [DOID:0111026, MONDO:Lexical, OMIM:615973] synonym: "POC1B cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111026 {source="MONDO:equivalentTo"} @@ -332930,14 +332990,14 @@ subset: gard_rare {source="GARD:22652", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive deafness 102" NARROW [DOID:0110463] -synonym: "autosomal recessive nonsyndromic deafness 102" NARROW [OMIM:615974] +synonym: "autosomal recessive deafness 102" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 102" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in EPS8" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 102" NARROW [DOID:0110463, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 102" NARROW [MONDORULE:2] synonym: "autosomal recessive nonsyndromic hearing loss 102" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal recessive 102" NARROW [MONDO:Lexical, OMIM:615974, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 102" NARROW [MONDORULE:2, OMIM:615974] -synonym: "DFNB102" NARROW ABBREVIATION [DOID:0110463, MONDO:Lexical, OMIM:615974] +synonym: "deafness, autosomal recessive 102" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 102" NARROW [MONDORULE:2] +synonym: "DFNB102" NARROW ABBREVIATION [MONDO:Lexical] synonym: "EPS8 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110463 {source="MONDO:equivalentTo"} xref: GARD:22652 {source="MONDO:GARD"} @@ -332963,16 +333023,16 @@ subset: orphanet_rare {source="Orphanet:319581"} subset: predisposition subset: rare synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1" EXACT [] -synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319581] -synonym: "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" EXACT [Orphanet:319581] -synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [Orphanet:319581] +synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [DOID:0111956, Orphanet:319581] +synonym: "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" EXACT [DOID:0111956, Orphanet:319581] +synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [DOID:0111956, Orphanet:319581] synonym: "IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "IFNGR1 deficiency, autosomal dominant" EXACT [OMIM:615978] -synonym: "IMD27B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615978] -synonym: "immunodeficiency 27B" EXACT [MONDO:Lexical, OMIM:615978] -synonym: "immunodeficiency 27B, mycobacteriosis, AD" EXACT [OMIM:615978, OMIM:genemap2] +synonym: "IMD27B" EXACT ABBREVIATION [DOID:0111956, MONDO:Lexical, OMIM:615978] +synonym: "immunodeficiency 27B" EXACT [DOID:0111956, MONDO:Lexical, OMIM:615978] +synonym: "immunodeficiency 27B, mycobacteriosis, AD" EXACT [] synonym: "immunodeficiency 27B, Mycobacteriosis, autosomal dominant" EXACT [OMIM:615978] -synonym: "immunodeficiency type 27B" EXACT [MONDORULE:4, OMIM:615978] +synonym: "immunodeficiency type 27B" EXACT [MONDORULE:4] xref: DOID:0111956 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.8 {source="Orphanet:319581/attributed", source="Orphanet:319581/ntbt", source="Orphanet:319581"} xref: MEDGEN:863300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -332992,11 +333052,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31" EXACT [MONDO:design_pattern] synonym: "FBXO31 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal recessive 45" EXACT [MONDO:Lexical, OMIM:615979] -synonym: "intellectual disability, autosomal recessive type 45" EXACT [MONDORULE:2, OMIM:615979] -synonym: "mental retardation, autosomal recessive 45" RELATED DEPRECATED [MONDO:Lexical, OMIM:615979] -synonym: "mental retardation, autosomal recessive type 45" EXACT DEPRECATED [MONDORULE:2, OMIM:615979] -synonym: "MRT45" RELATED DEPRECATED [MONDO:Lexical, OMIM:615979] +synonym: "intellectual disability, autosomal recessive 45" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 45" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 45" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 45" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT45" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081209 {source="MONDO:equivalentTo"} xref: GARD:22567 {source="MONDO:GARD"} xref: MEDGEN:863301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -333017,11 +333077,11 @@ subset: orphanet_rare {source="Orphanet:435660"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial partial lipodystrophy associated with LIPE mutations" EXACT [DOID:0070206] -synonym: "familial partial lipodystrophy type 6" RELATED [DOID:0070206] -synonym: "FPLD6" EXACT ABBREVIATION [MONDO:Lexical, OMIM:615980, Orphanet:435660] -synonym: "LIPE-related FPLD" EXACT [Orphanet:435660] -synonym: "lipodystrophy, familial partial, associated with Lipe mutations" RELATED [OMIM:615980] -synonym: "lipodystrophy, familial partial, type 6" RELATED [GARD:0013126, MONDO:Lexical, OMIM:615980] +synonym: "familial partial lipodystrophy type 6" RELATED [] +synonym: "FPLD6" EXACT ABBREVIATION [DOID:0070206, MONDO:Lexical, OMIM:615980, Orphanet:435660] +synonym: "LIPE-related FPLD" EXACT [DOID:0070206, Orphanet:435660] +synonym: "lipodystrophy, familial partial, associated with Lipe mutations" RELATED [] +synonym: "lipodystrophy, familial partial, type 6" RELATED [GARD:0013126, MONDO:Lexical] xref: DOID:0070206 {source="MONDO:equivalentTo"} xref: GARD:13126 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="Orphanet:435660/attributed", source="Orphanet:435660/ntbt", source="Orphanet:435660"} @@ -333042,9 +333102,9 @@ subset: gard_rare {source="GARD:821", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Bardet-Biedl syndrome" RELATED [GARD:0000821] -synonym: "Bardet-Biedl syndrome 2" EXACT [MONDO:Lexical, OMIM:615981] +synonym: "Bardet-Biedl syndrome 2" EXACT [DOID:0110124, MONDO:Lexical, OMIM:615981] synonym: "Bardet-Biedl syndrome caused by mutation in BBS2" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 2" EXACT [DOID:0110124, MONDORULE:1, OMIM:615981] +synonym: "Bardet-Biedl syndrome type 2" EXACT [MONDORULE:1] synonym: "BBS" RELATED ABBREVIATION [GARD:0000821] synonym: "BBS2" EXACT ABBREVIATION [DOID:0110124, GARD:0000821, MONDO:Lexical, OMIM:615981] synonym: "BBS2 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -333069,8 +333129,8 @@ name: Bardet-Biedl syndrome 4 subset: gard_rare {source="GARD:823", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 4" EXACT [MONDO:Lexical, OMIM:615982] -synonym: "Bardet-Biedl syndrome type 4" EXACT [DOID:0110126, MONDORULE:1, OMIM:615982] +synonym: "Bardet-Biedl syndrome 4" EXACT [DOID:0110126, MONDO:Lexical, OMIM:615982] +synonym: "Bardet-Biedl syndrome type 4" EXACT [MONDORULE:1] synonym: "BBS4" EXACT ABBREVIATION [DOID:0110126, MONDO:Lexical, OMIM:615982] xref: DOID:0110126 {source="MONDO:equivalentTo"} xref: GARD:823 {source="MONDO:GARD"} @@ -333094,9 +333154,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:10204", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615983] +synonym: "Bardet-Biedl syndrome 5" EXACT CLINGEN_LABEL [DOID:0110127, MONDO:Lexical, OMIM:615983] synonym: "Bardet-Biedl syndrome caused by mutation in BBS5" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 5" EXACT [DOID:0110127, MONDORULE:1, OMIM:615983] +synonym: "Bardet-Biedl syndrome type 5" EXACT [MONDORULE:1] synonym: "BBS5" EXACT ABBREVIATION [DOID:0110127, MONDO:Lexical, OMIM:615983] synonym: "BBS5 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110127 {source="MONDO:equivalentTo"} @@ -333121,9 +333181,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:10206", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615984] +synonym: "Bardet-Biedl syndrome 7" EXACT CLINGEN_LABEL [DOID:0110129, MONDO:Lexical, OMIM:615984] synonym: "Bardet-Biedl syndrome caused by mutation in BBS7" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 7" EXACT [DOID:0110129, MONDORULE:1, OMIM:615984] +synonym: "Bardet-Biedl syndrome type 7" EXACT [MONDORULE:1] synonym: "BBS7" EXACT ABBREVIATION [DOID:0110129, MONDO:Lexical, OMIM:615984] synonym: "BBS7 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110129 {source="MONDO:equivalentTo"} @@ -333149,9 +333209,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:10207", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 8" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615985] +synonym: "Bardet-Biedl syndrome 8" EXACT CLINGEN_LABEL [DOID:0110130, MONDO:Lexical, OMIM:615985] synonym: "Bardet-Biedl syndrome caused by mutation in TTC8" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 8" EXACT [DOID:0110130, MONDORULE:1, OMIM:615985] +synonym: "Bardet-Biedl syndrome type 8" EXACT [MONDORULE:1] synonym: "BBS8" EXACT ABBREVIATION [DOID:0110130, MONDO:Lexical, OMIM:615985] synonym: "TTC8 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110130 {source="MONDO:equivalentTo"} @@ -333176,9 +333236,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:10208", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 9" EXACT [MONDO:Lexical, OMIM:615986] +synonym: "Bardet-Biedl syndrome 9" EXACT [DOID:0110131, MONDO:Lexical, OMIM:615986] synonym: "Bardet-Biedl syndrome caused by mutation in BBS9" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 9" EXACT [DOID:0110131, MONDORULE:1, OMIM:615986] +synonym: "Bardet-Biedl syndrome type 9" EXACT [MONDORULE:1] synonym: "BBS9" EXACT ABBREVIATION [DOID:0110131, MONDO:Lexical, OMIM:615986] synonym: "BBS9 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110131 {source="MONDO:equivalentTo"} @@ -333205,9 +333265,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:10209", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 10" EXACT [MONDO:Lexical, OMIM:615987] +synonym: "Bardet-Biedl syndrome 10" EXACT [DOID:0110132, MONDO:Lexical, OMIM:615987] synonym: "Bardet-Biedl syndrome caused by mutation in BBS10" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 10" EXACT [DOID:0110132, MONDORULE:2, OMIM:615987] +synonym: "Bardet-Biedl syndrome type 10" EXACT [MONDORULE:2] synonym: "BBS10" EXACT ABBREVIATION [DOID:0110132, MONDO:Lexical, OMIM:615987] synonym: "BBS10 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110132 {source="MONDO:equivalentTo"} @@ -333233,9 +333293,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:10210", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 11" EXACT [MONDO:Lexical, OMIM:615988] +synonym: "Bardet-Biedl syndrome 11" EXACT [DOID:0110133, MONDO:Lexical, OMIM:615988] synonym: "Bardet-Biedl syndrome caused by mutation in TRIM32" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 11" EXACT [DOID:0110133, MONDORULE:2, OMIM:615988] +synonym: "Bardet-Biedl syndrome type 11" EXACT [MONDORULE:2] synonym: "BBS11" EXACT ABBREVIATION [DOID:0110133, MONDO:Lexical, OMIM:615988] synonym: "TRIM32 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110133 {source="MONDO:equivalentTo"} @@ -333260,9 +333320,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:10211", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 12" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615989] +synonym: "Bardet-Biedl syndrome 12" EXACT CLINGEN_LABEL [DOID:0110134, MONDO:Lexical, OMIM:615989] synonym: "Bardet-Biedl syndrome caused by mutation in BBS12" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 12" EXACT [DOID:0110134, MONDORULE:2, OMIM:615989] +synonym: "Bardet-Biedl syndrome type 12" EXACT [MONDORULE:2] synonym: "BBS12" EXACT ABBREVIATION [DOID:0110134, MONDO:Lexical, OMIM:615989] synonym: "BBS12 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110134 {source="MONDO:equivalentTo"} @@ -333287,9 +333347,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:16037", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 13" EXACT [MONDO:Lexical, OMIM:615990] +synonym: "Bardet-Biedl syndrome 13" EXACT [DOID:0110135, MONDO:Lexical, OMIM:615990] synonym: "Bardet-Biedl syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 13" EXACT [DOID:0110135, MONDORULE:2, OMIM:615990] +synonym: "Bardet-Biedl syndrome type 13" EXACT [MONDORULE:2] synonym: "BBS13" EXACT ABBREVIATION [DOID:0110135, MONDO:Lexical, OMIM:615990] synonym: "MKS1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110135 {source="MONDO:equivalentTo"} @@ -333313,9 +333373,9 @@ def: "A Bardet-Biedl syndrome that has material basis in homozygous mutation in subset: gard_rare {source="GARD:16038", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 14" EXACT [MONDO:Lexical, OMIM:615991] -synonym: "Bardet-Biedl syndrome 14, modifier of" EXACT [OMIM:615991, OMIM:genemap2] -synonym: "Bardet-Biedl syndrome type 14" EXACT [DOID:0110136, MONDORULE:2, OMIM:615991] +synonym: "Bardet-Biedl syndrome 14" EXACT [DOID:0110136, MONDO:Lexical, OMIM:615991] +synonym: "Bardet-Biedl syndrome 14, modifier of" EXACT [] +synonym: "Bardet-Biedl syndrome type 14" EXACT [MONDORULE:2] synonym: "BBS14" EXACT ABBREVIATION [DOID:0110136, MONDO:Lexical, OMIM:615991] xref: DOID:0110136 {source="MONDO:equivalentTo"} xref: GARD:16038 {source="MONDO:GARD"} @@ -333339,9 +333399,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:16039", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 15" EXACT [MONDO:Lexical, OMIM:615992] +synonym: "Bardet-Biedl syndrome 15" EXACT [DOID:0110137, MONDO:Lexical, OMIM:615992] synonym: "Bardet-Biedl syndrome caused by mutation in WDPCP" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 15" EXACT [DOID:0110137, MONDORULE:2, OMIM:615992] +synonym: "Bardet-Biedl syndrome type 15" EXACT [MONDORULE:2] synonym: "BBS15" EXACT ABBREVIATION [DOID:0110137, MONDO:Lexical, OMIM:615992] synonym: "WDPCP Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110137 {source="MONDO:equivalentTo"} @@ -333364,9 +333424,9 @@ subset: gard_rare {source="GARD:16040", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bardet-Biedl syndrome 16" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615993] +synonym: "Bardet-Biedl syndrome 16" EXACT CLINGEN_LABEL [DOID:0110138, MONDO:Lexical, OMIM:615993] synonym: "Bardet-Biedl syndrome caused by mutation in SDCCAG8" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 16" EXACT [DOID:0110138, MONDORULE:2, OMIM:615993] +synonym: "Bardet-Biedl syndrome type 16" EXACT [MONDORULE:2] synonym: "BBS16" EXACT ABBREVIATION [DOID:0110138, MONDO:Lexical, OMIM:615993] synonym: "SDCCAG8 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110138 {source="MONDO:equivalentTo"} @@ -333389,9 +333449,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:16041", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 17" EXACT [MONDO:Lexical, OMIM:615994] +synonym: "Bardet-Biedl syndrome 17" EXACT [DOID:0110139, MONDO:Lexical, OMIM:615994] synonym: "Bardet-Biedl syndrome caused by mutation in LZTFL1" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 17" EXACT [DOID:0110139, MONDORULE:2, OMIM:615994] +synonym: "Bardet-Biedl syndrome type 17" EXACT [MONDORULE:2] synonym: "BBS17" EXACT ABBREVIATION [DOID:0110139, MONDO:Lexical, OMIM:615994] synonym: "LZTFL1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110139 {source="MONDO:equivalentTo"} @@ -333415,9 +333475,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:16042", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 18" EXACT [MONDO:Lexical, OMIM:615995] +synonym: "Bardet-Biedl syndrome 18" EXACT [DOID:0110140, MONDO:Lexical, OMIM:615995] synonym: "Bardet-Biedl syndrome caused by mutation in BBIP1" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 18" EXACT [DOID:0110140, MONDORULE:2, OMIM:615995] +synonym: "Bardet-Biedl syndrome type 18" EXACT [MONDORULE:2] synonym: "BBIP1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "BBS18" EXACT ABBREVIATION [DOID:0110140, MONDO:Lexical, OMIM:615995] xref: DOID:0110140 {source="MONDO:equivalentTo"} @@ -333439,9 +333499,9 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:16043", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 19" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:615996] +synonym: "Bardet-Biedl syndrome 19" EXACT CLINGEN_LABEL [DOID:0110141, MONDO:Lexical, OMIM:615996] synonym: "Bardet-Biedl syndrome caused by mutation in IFT27" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 19" EXACT [DOID:0110141, MONDORULE:2, OMIM:615996] +synonym: "Bardet-Biedl syndrome type 19" EXACT [MONDORULE:2] synonym: "BBS19" EXACT ABBREVIATION [DOID:0110141, MONDO:Lexical, OMIM:615996] synonym: "IFT27 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110141 {source="MONDO:equivalentTo"} @@ -333460,14 +333520,14 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014448 name: hyperthyroxinemia, familial dysalbuminemic def: "An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4." [MESH:D050010] -synonym: "bisalbuminemia" EXACT [Orphanet:276271] -synonym: "dysalbuminemic hyperthyroxinemia" EXACT [OMIM:615999, OMIM:genemap2] -synonym: "dysalbuminemic hypertriiodothyroninemia" EXACT [OMIM:615999, OMIM:genemap2] -synonym: "euthyroid hyperthyroxinemia 1" RELATED [OMIM:615999] +synonym: "bisalbuminemia" EXACT [] +synonym: "dysalbuminemic hyperthyroxinemia" EXACT [] +synonym: "dysalbuminemic hypertriiodothyroninemia" EXACT [] +synonym: "euthyroid hyperthyroxinemia 1" RELATED [] synonym: "familial Dysalbuminemic hyperthyroidism" EXACT [NCIT:C131813] synonym: "familial Dysalbuminemic hyperthyroxinemia" EXACT [NCIT:C131813] -synonym: "FDAH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615999] -synonym: "FDH" RELATED ABBREVIATION [OMIM:615999] +synonym: "FDAH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "FDH" RELATED ABBREVIATION [] synonym: "hyperthyroxinemia, familial Dysalbuminemic" EXACT [MONDO:Lexical, OMIM:615999] synonym: "hyperthyroxinemia, familial dysalbuminemic" EXACT [OMIM:615999] xref: MEDGEN:90974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -333493,8 +333553,8 @@ subset: ordo_disorder {source="Orphanet:86816"} subset: orphanet_rare {source="Orphanet:86816"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ANALBA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616000] -synonym: "analbuminemia" RELATED [GARD:0013056, MONDO:Lexical, OMIM:616000] +synonym: "ANALBA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "analbuminemia" RELATED [GARD:0013056, MONDO:Lexical] xref: GARD:13056 {source="MONDO:GARD"} xref: ICD10CM:R77.0 {source="Orphanet:86816", source="Orphanet:86816/attributed", source="Orphanet:86816/ntbt"} xref: MEDGEN:930922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -333517,9 +333577,9 @@ subset: gard_rare {source="GARD:16044", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BNAH2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616001] +synonym: "BNAH2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "breasts and/or nipples, aplasia or hypoplasia of, 2" EXACT [MONDO:Lexical, OMIM:616001] -synonym: "breasts and/or nipples, aplasia or hypoplasia of, type 2" EXACT [MONDORULE:1, OMIM:616001] +synonym: "breasts and/or nipples, aplasia or hypoplasia of, type 2" EXACT [MONDORULE:1] synonym: "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" EXACT [MONDO:design_pattern] synonym: "PTPRF isolated congenital breast hypoplasia/aplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16044 {source="MONDO:GARD"} @@ -333540,11 +333600,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:16045", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "focal segmental glomerulosclerosis 7" EXACT [MONDO:Lexical, OMIM:616002] +synonym: "focal segmental glomerulosclerosis 7" EXACT [DOID:0111132, MONDO:Lexical, OMIM:616002] synonym: "focal segmental glomerulosclerosis caused by mutation in PAX2" EXACT [MONDO:design_pattern] -synonym: "focal segmental glomerulosclerosis type 7" EXACT [DOID:0111132, MONDORULE:1, OMIM:616002] +synonym: "focal segmental glomerulosclerosis type 7" EXACT [MONDORULE:1] synonym: "FSGS7" EXACT ABBREVIATION [DOID:0111132, MONDO:Lexical, OMIM:616002] -synonym: "glomerulosclerosis, focal segmental, 7" RELATED [OMIM:616002] +synonym: "glomerulosclerosis, focal segmental, 7" RELATED [] synonym: "PAX2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111132 {source="MONDO:equivalentTo"} xref: GARD:16045 {source="MONDO:GARD"} @@ -333570,11 +333630,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital dysfibrinogenemia" RELATED [GARD:0002004] synonym: "dysfibrinogenemia" EXACT [NCIT:C131659] -synonym: "dysfibrinogenemia, congenital" RELATED [OMIM:616004] +synonym: "dysfibrinogenemia, congenital" RELATED [] synonym: "dysfibrinogenemia, familial" RELATED [GARD:0002004] -synonym: "familial dysfibrinogenemia" EXACT [GARD:0002004] -synonym: "hypodysfibrinogenemia" EXACT [OMIM:616004, OMIM:genemap2] -synonym: "hypodysfibrinogenemia, congenital" RELATED [OMIM:616004] +synonym: "familial dysfibrinogenemia" EXACT [GARD:0002004, Orphanet:98881] +synonym: "hypodysfibrinogenemia" EXACT [] +synonym: "hypodysfibrinogenemia, congenital" RELATED [] xref: GARD:2004 {source="MONDO:GARD"} xref: ICD10CM:D68.2 {source="Orphanet:98881/attributed", source="Orphanet:98881/ntbt", source="Orphanet:98881"} xref: ICD9:286.3 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -333599,9 +333659,9 @@ subset: gard_rare {source="GARD:16046", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD36" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616005] -synonym: "immunodeficiency 36" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616005] -synonym: "immunodeficiency type 36" EXACT [MONDORULE:2, OMIM:616005] +synonym: "IMD36" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 36" EXACT CLINGEN_LABEL [DOID:0111949, MONDO:Lexical] +synonym: "immunodeficiency type 36" EXACT [MONDORULE:2] xref: DOID:0111949 {source="MONDO:equivalentTo"} xref: GARD:16046 {source="MONDO:GARD"} xref: MEDGEN:863371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -333622,9 +333682,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FAT4 Hennekam syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Hennekam lymphangiectasia-lymphedema syndrome 2" EXACT [MONDO:Lexical, OMIM:616006] -synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 2" EXACT [MONDORULE:1, OMIM:616006] +synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 2" EXACT [MONDORULE:1] synonym: "Hennekam syndrome caused by mutation in FAT4" EXACT [MONDO:design_pattern] -synonym: "HKLLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616006] +synonym: "HKLLS2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16047 {source="MONDO:GARD"} xref: MEDGEN:863376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616006 {source="MONDO:equivalentTo"} @@ -333645,7 +333705,7 @@ subset: orphanet_rare {source="Orphanet:436174"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CAGSSS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616007, Orphanet:436174] -synonym: "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" RELATED [MONDO:Lexical, OMIM:616007] +synonym: "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" RELATED [MONDO:Lexical] xref: GARD:17727 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:436174", source="Orphanet:436174/attributed", source="Orphanet:436174/ntbt"} xref: MEDGEN:863379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -333669,8 +333729,8 @@ subset: ordo_disorder {source="Orphanet:423384"} subset: orphanet_rare {source="Orphanet:423384"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neutropenia, severe congenital, 6, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616022] -synonym: "SCN6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616022] +synonym: "neutropenia, severe congenital, 6, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "SCN6" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0112134 {source="MONDO:equivalentTo"} xref: GARD:17702 {source="MONDO:GARD"} xref: ICD10CM:D70 {source="Orphanet:423384/attributed", source="Orphanet:423384/ntbt", source="Orphanet:423384"} @@ -333695,13 +333755,13 @@ def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause subset: gard_rare {source="GARD:18353", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "glycosylphosphatidylinositol biosynthesis defect 11" RELATED [OMIM:616025] -synonym: "GPIBD11" RELATED ABBREVIATION [OMIM:616025] -synonym: "HPMRS5" RELATED DEPRECATED [MONDO:Lexical, OMIM:616025] -synonym: "hyperphosphatasia with intellectual disability syndrome 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616025] -synonym: "hyperphosphatasia with intellectual disability syndrome type 5" EXACT [MONDORULE:1, OMIM:616025] -synonym: "hyperphosphatasia with mental retardation syndrome 5" EXACT DEPRECATED [MONDO:Lexical, OMIM:616025] -synonym: "hyperphosphatasia with mental retardation syndrome type 5" EXACT DEPRECATED [MONDORULE:1, OMIM:616025] +synonym: "glycosylphosphatidylinositol biosynthesis defect 11" RELATED [] +synonym: "GPIBD11" RELATED ABBREVIATION [] +synonym: "HPMRS5" RELATED DEPRECATED [MONDO:Lexical] +synonym: "hyperphosphatasia with intellectual disability syndrome 5" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "hyperphosphatasia with intellectual disability syndrome type 5" EXACT [MONDORULE:1] +synonym: "hyperphosphatasia with mental retardation syndrome 5" EXACT DEPRECATED [DOID:0070432, MONDO:Lexical, OMIM:616025] +synonym: "hyperphosphatasia with mental retardation syndrome type 5" EXACT DEPRECATED [MONDORULE:1] synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW" EXACT [MONDO:design_pattern] synonym: "PIGW hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070432 {source="MONDO:equivalentTo"} @@ -333724,10 +333784,10 @@ subset: gard_rare {source="GARD:16048", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" EXACT [MONDO:Lexical, OMIM:616026] -synonym: "fanconi renotubular syndrome 4, with maturity-onset diabetes of the young" EXACT [OMIM:616026, OMIM:genemap2] +synonym: "fanconi renotubular syndrome 4, with maturity-onset diabetes of the young" EXACT [] synonym: "Fanconi syndrome caused by mutation in HNF4A" EXACT [MONDO:design_pattern] -synonym: "FRTS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616026] -synonym: "FRTS4 with MODY" RELATED [OMIM:616026] +synonym: "FRTS4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "FRTS4 with MODY" RELATED [] synonym: "HNF4A Fanconi syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080760 {source="MONDO:equivalentTo"} xref: GARD:16048 {source="MONDO:GARD"} @@ -333752,8 +333812,8 @@ subset: rare synonym: "Adams-Oliver syndrome 5" EXACT [MONDO:Lexical, OMIM:616028] synonym: "Adams-Oliver syndrome caused by mutation in NOTCH1" EXACT [] synonym: "Adams-Oliver syndrome caused by mutation in Notch1" EXACT [MONDO:design_pattern] -synonym: "Adams-Oliver syndrome type 5" EXACT [MONDORULE:1, OMIM:616028] -synonym: "AOS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616028] +synonym: "Adams-Oliver syndrome type 5" EXACT [MONDORULE:1] +synonym: "AOS5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "NOTCH1 Adams-Oliver syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Notch1 Adams-Oliver syndrome" EXACT [MONDO:design_pattern] xref: GARD:16049 {source="MONDO:GARD"} @@ -333777,9 +333837,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:423454"} subset: orphanet_rare {source="Orphanet:423454"} subset: rare -synonym: "ECTDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616029] +synonym: "ECTDS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ectodermal dysplasia-short stature syndrome" EXACT [Orphanet:423454] -synonym: "ectodermal dysplasia/short stature syndrome" RELATED [MONDO:Lexical, OMIM:616029] +synonym: "ectodermal dysplasia/short stature syndrome" RELATED [MONDO:Lexical] synonym: "short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome" EXACT [Orphanet:423454] xref: GARD:17703 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:423454", source="Orphanet:423454/attributed", source="Orphanet:423454/ntbt"} @@ -333800,9 +333860,9 @@ subset: gard_rare {source="GARD:16050", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FEZF1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HH22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616030] -synonym: "hypogonadotropic hypogonadism 22 with or without anosmia" EXACT [MONDO:Lexical, OMIM:616030] -synonym: "hypogonadotropic hypogonadism 22, with or without anosmia" EXACT [OMIM:616030, OMIM:genemap2] +synonym: "HH22" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypogonadotropic hypogonadism 22 with or without anosmia" EXACT [DOID:0090081, MONDO:Lexical, OMIM:616030] +synonym: "hypogonadotropic hypogonadism 22, with or without anosmia" EXACT [] synonym: "hypogonadotropic hypogonadism caused by mutation in FEZF1" EXACT [MONDO:design_pattern] xref: DOID:0090081 {source="MONDO:equivalentTo"} xref: GARD:16050 {source="MONDO:GARD"} @@ -333826,11 +333886,11 @@ subset: gard_rare {source="GARD:16051", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ANLN focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "focal segmental glomerulosclerosis 8" EXACT [MONDO:Lexical, OMIM:616032] +synonym: "focal segmental glomerulosclerosis 8" EXACT [DOID:0111133, MONDO:Lexical, OMIM:616032] synonym: "focal segmental glomerulosclerosis caused by mutation in ANLN" EXACT [MONDO:design_pattern] -synonym: "focal segmental glomerulosclerosis type 8" EXACT [DOID:0111133, MONDORULE:1, OMIM:616032] +synonym: "focal segmental glomerulosclerosis type 8" EXACT [MONDORULE:1] synonym: "FSGS8" EXACT ABBREVIATION [DOID:0111133, MONDO:Lexical, OMIM:616032] -synonym: "glomerulosclerosis, focal segmental, 8" RELATED [OMIM:616032] +synonym: "glomerulosclerosis, focal segmental, 8" RELATED [] xref: DOID:0111133 {source="MONDO:equivalentTo"} xref: GARD:16051 {source="MONDO:GARD"} xref: ICD10CM:N04.1 {source="DOID:0111133"} @@ -333862,9 +333922,9 @@ subset: rare synonym: "2,4-alpha dienoyl-CoA reductase deficiency" RELATED [GARD:0010327] synonym: "2,4-dienoyl-CoA reductase deficiency" EXACT [MONDO:Lexical, OMIM:616034, Orphanet:431361] synonym: "DECR deficiency with hyperlysinemia" EXACT [Orphanet:431361] -synonym: "DECRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616034] +synonym: "DECRD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "dienoyl-CoA reductase deficiency" RELATED [GARD:0010327] -synonym: "progressive encephalopathy with leukodystrophy due to DECR deficiency" EXACT CLINGEN_LABEL [] +synonym: "progressive encephalopathy with leukodystrophy due to DECR deficiency" EXACT CLINGEN_LABEL [Orphanet:431361] xref: GARD:10327 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:431361/attributed", source="Orphanet:431361/ntbt", source="Orphanet:431361"} xref: MEDGEN:346552 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -333887,12 +333947,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CCDC151 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CILD30" EXACT ABBREVIATION [DOID:0110624, MONDO:Lexical, OMIM:616037] -synonym: "ciliary dyskinesia, primary, 30" RELATED [MONDO:Lexical, OMIM:616037] -synonym: "ciliary dyskinesia, primary, 30, with or without situs inversus" RELATED [OMIM:616037] -synonym: "ciliary dyskinesia, primary, type 30" EXACT [MONDORULE:2, OMIM:616037] +synonym: "ciliary dyskinesia, primary, 30" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 30, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 30" EXACT [MONDORULE:2] synonym: "primary ciliary dyskinesia 30 without situs inversus" EXACT [DOID:0110624] synonym: "primary ciliary dyskinesia caused by mutation in CCDC151" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 30" EXACT [DOID:0110624, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 30" EXACT [MONDORULE:2] xref: DOID:0110624 {source="MONDO:equivalentTo"} xref: GARD:16052 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110624"} @@ -333914,12 +333974,12 @@ subset: gard_rare {source="GARD:22335", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:583602"} subset: rare -synonym: "NEU-Laxova syndrome 2" RELATED [OMIM:616038] -synonym: "Neu-Laxova syndrome 2" EXACT [MONDO:Lexical, OMIM:616038] +synonym: "NEU-Laxova syndrome 2" RELATED [] +synonym: "Neu-Laxova syndrome 2" EXACT [DOID:0080075, MONDO:Lexical, OMIM:616038] synonym: "Neu-Laxova syndrome caused by mutation in PSAT1" EXACT [MONDO:design_pattern] synonym: "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency" EXACT [Orphanet:583602] -synonym: "Neu-Laxova syndrome type 2" EXACT [DOID:0080075, MONDORULE:1, OMIM:616038] -synonym: "NLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616038] +synonym: "Neu-Laxova syndrome type 2" EXACT [MONDORULE:1] +synonym: "NLS2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "phosphoserine aminotransferase deficiency, prenatal form" EXACT [Orphanet:583602] synonym: "PSAT1 Neu-Laxova syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080075 {source="MONDO:equivalentTo"} @@ -333944,11 +334004,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:435998"} subset: orphanet_rare {source="Orphanet:435998"} subset: rare -synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110203] +synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110203, Orphanet:435998] synonym: "Charcot-Marie-Tooth disease caused by mutation in COX6A1" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease recessive intermediate type D" EXACT [DOID:0110203, MONDORULE:1] -synonym: "Charcot-Marie-Tooth disease, recessive intermediate D" RELATED [MONDO:Lexical, OMIM:616039] -synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type D" EXACT [MONDORULE:1, OMIM:616039] +synonym: "Charcot-Marie-Tooth disease recessive intermediate type D" EXACT [MONDORULE:1] +synonym: "Charcot-Marie-Tooth disease, recessive intermediate D" RELATED [MONDO:Lexical] +synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type D" EXACT [MONDORULE:1] synonym: "CMTRID" EXACT ABBREVIATION [DOID:0110203, MONDO:Lexical, OMIM:616039] synonym: "COX6A1 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RI-CMT type D" EXACT [DOID:0110203, Orphanet:435998] @@ -333974,13 +334034,13 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:16053", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS7" EXACT ABBREVIATION [DOID:0110659, MONDO:Lexical, OMIM:616040] +synonym: "CMS7" EXACT ABBREVIATION [DOID:0110659, MONDO:Lexical] synonym: "congenital myasthenic syndrome 7 presynaptic" EXACT [DOID:0110659] synonym: "congenital myasthenic syndrome caused by mutation in SYT2" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 7" EXACT [DOID:0110659, MONDORULE:1] -synonym: "myasthenic syndrome, congenital, 7, presynaptic" RELATED [MONDO:Lexical, OMIM:616040] -synonym: "myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant" EXACT [OMIM:616040, OMIM:genemap2] -synonym: "myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy" RELATED [OMIM:616040] +synonym: "congenital myasthenic syndrome type 7" EXACT [MONDORULE:1] +synonym: "myasthenic syndrome, congenital, 7, presynaptic" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant" EXACT [OMIM:616040] +synonym: "myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy" RELATED [] synonym: "SYT2 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110659 {source="MONDO:equivalentTo"} xref: GARD:16053 {source="MONDO:GARD"} @@ -333999,14 +334059,14 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22653", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 103" NARROW [DOID:0110464] -synonym: "autosomal recessive nonsyndromic deafness 103" NARROW [OMIM:616042] +synonym: "autosomal recessive deafness 103" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 103" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLIC5" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 103" NARROW [DOID:0110464, MONDORULE:2] +synonym: "autosomal recessive nonsyndromic deafness type 103" NARROW [MONDORULE:2] synonym: "CLIC5 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal recessive 103" NARROW [MONDO:Lexical, OMIM:616042, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 103" NARROW [MONDORULE:2, OMIM:616042] -synonym: "DFNB103" NARROW ABBREVIATION [DOID:0110464, MONDO:Lexical, OMIM:616042] +synonym: "deafness, autosomal recessive 103" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 103" NARROW [MONDORULE:2] +synonym: "DFNB103" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110464 {source="MONDO:equivalentTo"} xref: GARD:22653 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110464"} @@ -334028,13 +334088,13 @@ subset: gard_rare {source="GARD:18140", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant deafness 65" NARROW [DOID:0110586] -synonym: "autosomal dominant nonsyndromic deafness 65" NARROW [OMIM:616044] +synonym: "autosomal dominant deafness 65" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 65" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 65" NARROW [DOID:0110586, MONDORULE:2] -synonym: "deafness, autosomal dominant 65" NARROW [MONDO:Lexical, OMIM:616044, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 65" NARROW [MONDORULE:2, OMIM:616044] -synonym: "DFNA65" NARROW ABBREVIATION [DOID:0110586, MONDO:Lexical, OMIM:616044] +synonym: "autosomal dominant nonsyndromic deafness type 65" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 65" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 65" NARROW [MONDORULE:2] +synonym: "DFNA65" NARROW ABBREVIATION [MONDO:Lexical] synonym: "TBC1D24 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110586 {source="MONDO:equivalentTo"} xref: GARD:18140 {source="MONDO:GARD"} @@ -334060,8 +334120,8 @@ subset: ordo_disorder {source="Orphanet:254913"} subset: orphanet_rare {source="Orphanet:254913"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "isolated ATP synthase deficiency" NARROW [Orphanet:254913] -synonym: "isolated mitochondrial respiratory chain complex V deficiency" NARROW [Orphanet:254913] +synonym: "isolated ATP synthase deficiency" NARROW [] +synonym: "isolated mitochondrial respiratory chain complex V deficiency" NARROW [] synonym: "mitochondrial complex V (ATP synthase) deficiency" EXACT [DOID:0111143] xref: DOID:0111143 {source="MONDO:equivalentTo"} xref: GARD:18649 {source="MONDO:GARD"} @@ -334087,10 +334147,10 @@ subset: ordo_disorder {source="Orphanet:436166"} subset: orphanet_rare {source="Orphanet:436166"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AIFEC" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616050] -synonym: "AUTOINFLAMMATION with infantile enterocolitis" RELATED [MONDO:Lexical, OMIM:616050] -synonym: "Autoinflammation with Infantile Enterocolitis" EXACT [NORD:1939] -synonym: "autoinflammation with infantile enterocolitis" EXACT [Orphanet:436166] +synonym: "AIFEC" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "AUTOINFLAMMATION with infantile enterocolitis" RELATED [MONDO:Lexical] +synonym: "Autoinflammation with Infantile Enterocolitis" EXACT [NORD:1939, OMIM:616050] +synonym: "autoinflammation with infantile enterocolitis" EXACT [OMIM:616050] synonym: "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome" EXACT [Orphanet:436166] synonym: "NLRC4-related autoinflammatory syndrome with MAS" EXACT [Orphanet:436166] synonym: "NLRC4-related infantile enterocolitis-autoinflammatory syndrome" EXACT [Orphanet:436166] @@ -334117,7 +334177,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive primary microcephaly caused by mutation in CENPE" EXACT [MONDO:design_pattern] synonym: "CENPE autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MCPH13" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616051] +synonym: "MCPH13" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 13, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616051] xref: DOID:0070283 {source="MONDO:equivalentTo"} xref: GARD:16054 {source="MONDO:GARD"} @@ -334145,14 +334205,14 @@ subset: orphanet_rare {source="Orphanet:352479"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" EXACT [DOID:0110295, Orphanet:352479] +synonym: "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" EXACT [DOID:0110295] synonym: "ISPD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LGMD2U" EXACT ABBREVIATION [DOID:0110295, Orphanet:352479] synonym: "MDDGC7" EXACT ABBREVIATION [DOID:0110295, MONDO:Lexical, OMIM:616052] synonym: "muscular dystrophy limb-girdle type 2U" EXACT [DOID:0110295] -synonym: "muscular dystrophy, limb-girdle, type 2U" RELATED [OMIM:616052] +synonym: "muscular dystrophy, limb-girdle, type 2U" RELATED [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7" EXACT [DOID:0110295] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" RELATED [MONDO:Lexical, OMIM:616052] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" RELATED [MONDO:Lexical] xref: DOID:0110295 {source="MONDO:equivalentTo"} xref: GARD:17519 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="DOID:0110295", source="Orphanet:352479", source="Orphanet:352479/attributed", source="Orphanet:352479/ntbt"} @@ -334179,8 +334239,8 @@ subset: ordo_disorder {source="Orphanet:423275"} subset: orphanet_rare {source="Orphanet:423275"} subset: rare synonym: "SCA40" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616053, Orphanet:423275] -synonym: "spinocerebellar ataxia 40" RELATED [MONDO:Lexical, OMIM:616053] -synonym: "spinocerebellar ataxia type 40" EXACT [MONDORULE:2, OMIM:616053] +synonym: "spinocerebellar ataxia 40" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 40" EXACT [DOID:0050986, MONDORULE:2, Orphanet:423275] xref: DOID:0050986 {source="MONDO:equivalentTo"} xref: GARD:12371 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:423275/attributed", source="Orphanet:423275/ntbt", source="Orphanet:423275"} @@ -334201,10 +334261,10 @@ subset: ordo_disorder {source="Orphanet:401953"} subset: orphanet_rare {source="Orphanet:401953"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EA8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616055] -synonym: "episodic ataxia type 8" EXACT [Orphanet:401953] -synonym: "episodic ataxia with slurred speech" RELATED [Orphanet:401953] -synonym: "episodic ataxia, type 8" RELATED [MONDO:Lexical, OMIM:616055] +synonym: "EA8" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "episodic ataxia type 8" EXACT [DOID:0050996, Orphanet:401953] +synonym: "episodic ataxia with slurred speech" RELATED [] +synonym: "episodic ataxia, type 8" RELATED [MONDO:Lexical] xref: DOID:0050996 {source="MONDO:equivalentTo"} xref: GARD:17665 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:401953/attributed", source="Orphanet:401953/ntbt", source="Orphanet:401953"} @@ -334221,13 +334281,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:12391", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE26" EXACT ABBREVIATION [OMIM:616056] -synonym: "developmental and epileptic encephalopathy 26" EXACT [OMIM:616056, OMIM:genemap2] -synonym: "early infantile epileptic encephalopathy 26" EXACT [GARD:0012391] +synonym: "DEE26" EXACT ABBREVIATION [DOID:0080461, OMIM:616056] +synonym: "developmental and epileptic encephalopathy 26" EXACT [DOID:0080461, OMIM:616056] +synonym: "early infantile epileptic encephalopathy 26" EXACT [DOID:0080461, GARD:0012391] synonym: "early infantile epileptic encephalopathy caused by mutation in KCNB1" EXACT [MONDO:design_pattern] -synonym: "EIEE26" EXACT ABBREVIATION [GARD:0012391, MONDO:Lexical, OMIM:616056] +synonym: "EIEE26" EXACT ABBREVIATION [GARD:0012391, MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 26" EXACT [MONDO:Lexical, OMIM:616056] -synonym: "epileptic encephalopathy, early infantile, type 26" EXACT [MONDORULE:2, OMIM:616056] +synonym: "epileptic encephalopathy, early infantile, type 26" EXACT [MONDORULE:2] synonym: "KCNB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080461 {source="MONDO:equivalentTo"} xref: GARD:12391 {source="MONDO:GARD"} @@ -334253,8 +334313,8 @@ subset: rare synonym: "DNAL4 familial congenital mirror movements" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "familial congenital mirror movements caused by mutation in DNAL4" EXACT [MONDO:design_pattern] synonym: "mirror movements 3" EXACT [MONDO:Lexical, OMIM:616059] -synonym: "mirror movements type 3" EXACT [MONDORULE:1, OMIM:616059] -synonym: "MRMV3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616059] +synonym: "mirror movements type 3" EXACT [MONDORULE:1] +synonym: "MRMV3" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16055 {source="MONDO:GARD"} xref: MEDGEN:863561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616059 {source="MONDO:equivalentTo"} @@ -334271,7 +334331,7 @@ name: porokeratosis 8, disseminated superficial actinic type subset: gard_rare {source="GARD:16056", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "POROK8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616063] +synonym: "POROK8" RELATED ABBREVIATION [MONDO:Lexical] synonym: "porokeratosis 8, disseminated superficial actinic type" EXACT [MONDO:Lexical, OMIM:616063] xref: GARD:16056 {source="MONDO:GARD"} xref: MEDGEN:863565 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -334288,12 +334348,12 @@ name: 46,XY sex reversal 9 subset: gard_rare {source="GARD:18361", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "46,XY SEX reversal 9" RELATED [OMIM:616067] -synonym: "46,XY sex reversal 9" EXACT [MONDO:Lexical, OMIM:616067] -synonym: "46,XY Sex reversal type 9" EXACT [MONDORULE:1, OMIM:616067] -synonym: "46,XY Sex reversal, Zfpm2-related" RELATED [OMIM:616067] -synonym: "46XY sex reversal 9" EXACT [OMIM:616067, OMIM:genemap2] -synonym: "SRXY9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616067] +synonym: "46,XY SEX reversal 9" RELATED [] +synonym: "46,XY sex reversal 9" EXACT [DOID:0111770, MONDO:Lexical, OMIM:616067] +synonym: "46,XY Sex reversal type 9" EXACT [MONDORULE:1] +synonym: "46,XY Sex reversal, Zfpm2-related" RELATED [] +synonym: "46XY sex reversal 9" EXACT [] +synonym: "SRXY9" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111770 {source="MONDO:equivalentTo"} xref: GARD:18361 {source="MONDO:GARD"} xref: MEDGEN:863566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -334314,10 +334374,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "EGFR neonatal inflammatory skin and bowel disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "inflammatory skin and bowel disease, neonatal, 2" EXACT [MONDO:Lexical, OMIM:616069] -synonym: "inflammatory skin and bowel disease, neonatal, type 2" EXACT [MONDORULE:1, OMIM:616069] +synonym: "inflammatory skin and bowel disease, neonatal, 2" EXACT [MONDO:Lexical] +synonym: "inflammatory skin and bowel disease, neonatal, type 2" EXACT [MONDORULE:1] synonym: "neonatal inflammatory skin and bowel disease caused by mutation in EGFR" EXACT [MONDO:design_pattern] -synonym: "NISBD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616069] +synonym: "NISBD2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18430 {source="MONDO:GARD"} xref: MEDGEN:863567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616069 {source="MONDO:equivalentTo"} @@ -334336,14 +334396,14 @@ subset: gard_rare {source="GARD:13379", source="MONDO:GARD"} subset: nord_rare {source="NORD:1958", source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 29" EXACT [DOID:0070059, GARD:0013379] +synonym: "autosomal dominant intellectual disability 29" EXACT [GARD:0013379] synonym: "autosomal dominant mental retardation 29" EXACT DEPRECATED [DOID:0070059, GARD:0013379] -synonym: "autosomal dominant non-syndromic intellectual disability 29" RELATED [DOID:0070059] -synonym: "intellectual disability, autosomal dominant 29" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616078] -synonym: "intellectual disability, autosomal dominant type 29" EXACT [MONDORULE:2, OMIM:616078] +synonym: "autosomal dominant non-syndromic intellectual disability 29" RELATED [] +synonym: "intellectual disability, autosomal dominant 29" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 29" EXACT [MONDORULE:2] synonym: "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1" EXACT [MONDO:design_pattern] -synonym: "mental retardation, autosomal dominant 29" RELATED DEPRECATED [MONDO:Lexical, OMIM:616078] -synonym: "mental retardation, autosomal dominant type 29" EXACT DEPRECATED [MONDORULE:2, OMIM:616078] +synonym: "mental retardation, autosomal dominant 29" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 29" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD29" EXACT ABBREVIATION [DOID:0070059, MONDO:Lexical, OMIM:616078] synonym: "SETBP1 disorder" RELATED [GARD:0013379] synonym: "SETBP1 Haploinsufficiency Disorder" EXACT [NORD:1958] @@ -334373,9 +334433,9 @@ subset: ordo_disorder {source="Orphanet:397758"} subset: orphanet_rare {source="Orphanet:397758"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "RDGCA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616079] +synonym: "RDGCA" RELATED ABBREVIATION [MONDO:Lexical] synonym: "retinal dystrophy with inner nuclear layer and ganglion cell anomalies" EXACT [Orphanet:397758] -synonym: "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" RELATED [MONDO:Lexical, OMIM:616079] +synonym: "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" RELATED [MONDO:Lexical] xref: GARD:17640 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:397758", source="Orphanet:397758/attributed", source="Orphanet:397758/ntbt", source="MONDO:directSiblingOf"} xref: MEDGEN:863583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -334394,7 +334454,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive primary microcephaly caused by mutation in CDK6" EXACT [MONDO:design_pattern] synonym: "CDK6 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MCPH12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616080] +synonym: "MCPH12" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 12, primary, autosomal recessive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616080] xref: DOID:0070284 {source="MONDO:equivalentTo"} xref: GARD:16057 {source="MONDO:GARD"} @@ -334414,8 +334474,8 @@ subset: gard_rare {source="GARD:16058", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "EXOSC8 pontocerebellar hypoplasia type 1" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hypomyelination with spinal muscular atrophy and cerebellar hypoplasia" RELATED [OMIM:616081] -synonym: "PCH1C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616081] +synonym: "hypomyelination with spinal muscular atrophy and cerebellar hypoplasia" RELATED [] +synonym: "PCH1C" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8" EXACT [MONDO:design_pattern] synonym: "pontocerebellar hypoplasia, type 1C" EXACT [MONDO:Lexical, OMIM:616081] xref: DOID:0112334 {source="MONDO:equivalentTo"} @@ -334436,14 +334496,14 @@ def: "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome subset: gard_rare {source="GARD:13136", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant intellectual disability 30" EXACT [DOID:0070060, GARD:0013136] +synonym: "autosomal dominant intellectual disability 30" EXACT [GARD:0013136] synonym: "autosomal dominant mental retardation 30" EXACT DEPRECATED [DOID:0070060] -synonym: "autosomal dominant non-syndromic intellectual disability 30" RELATED [DOID:0070060] -synonym: "intellectual disability, autosomal dominant 30" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616083] -synonym: "intellectual disability, autosomal dominant type 30" EXACT [MONDORULE:2, OMIM:616083] +synonym: "autosomal dominant non-syndromic intellectual disability 30" RELATED [] +synonym: "intellectual disability, autosomal dominant 30" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 30" EXACT [MONDORULE:2] synonym: "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11" EXACT [MONDO:design_pattern] -synonym: "mental retardation, autosomal dominant 30" RELATED DEPRECATED [MONDO:Lexical, OMIM:616083] -synonym: "mental retardation, autosomal dominant type 30" EXACT DEPRECATED [MONDORULE:2, OMIM:616083] +synonym: "mental retardation, autosomal dominant 30" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 30" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD30" EXACT ABBREVIATION [DOID:0070060, MONDO:Lexical, OMIM:616083] synonym: "ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070060 {source="MONDO:equivalentTo"} @@ -334470,7 +334530,7 @@ subset: orphanet_rare {source="Orphanet:369861"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED OMO:0003005 [] -synonym: "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED [MONDO:Lexical, OMIM:616084] +synonym: "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" RELATED [MONDO:Lexical] synonym: "SIFD" EXACT ABBREVIATION [DOID:0080209, MONDO:Lexical, OMIM:616084] synonym: "SIFD syndrome" EXACT [Orphanet:369861] xref: DOID:0080209 {source="MONDO:equivalentTo"} @@ -334495,8 +334555,8 @@ def: "Any type 2 diabetes mellitus in which the cause of the disease is a mutati subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "diabetes mellitus, noninsulin-dependent, 5" EXACT [MONDO:Lexical, OMIM:616087] -synonym: "diabetes mellitus, noninsulin-dependent, type 5" EXACT [MONDORULE:1, OMIM:616087] -synonym: "NIDDM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616087] +synonym: "diabetes mellitus, noninsulin-dependent, type 5" EXACT [MONDORULE:1] +synonym: "NIDDM5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TBC1D4 type 2 diabetes mellitus" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "type 2 diabetes mellitus caused by mutation in TBC1D4" EXACT [MONDO:design_pattern] xref: MEDGEN:863620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -334518,10 +334578,10 @@ subset: ordo_disorder {source="Orphanet:445110"} subset: orphanet_rare {source="Orphanet:445110"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LGMD due to POMK deficiency" EXACT [Orphanet:445110] -synonym: "MDDGC12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616094] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" RELATED [MONDO:Lexical, OMIM:616094] -synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" RELATED [OMIM:616094] +synonym: "LGMD due to POMK deficiency" EXACT [DOID:0112381, Orphanet:445110] +synonym: "MDDGC12" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" RELATED [] xref: DOID:0112381 {source="MONDO:equivalentTo"} xref: GARD:17769 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:445110/attributed", source="Orphanet:445110/ntbt", source="Orphanet:445110"} @@ -334542,8 +334602,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:438075"} subset: orphanet_rare {source="Orphanet:438075"} subset: rare -synonym: "MCT1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616095] -synonym: "monocarboxylate transporter 1 deficiency" RELATED [MONDO:Lexical, OMIM:616095] +synonym: "MCT1D" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "monocarboxylate transporter 1 deficiency" RELATED [MONDO:Lexical] xref: GARD:17733 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:438075", source="Orphanet:438075/attributed", source="Orphanet:438075/ntbt"} xref: MEDGEN:863623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -334567,9 +334627,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "BCL10 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "combined immunodeficiency due to BCL10 deficiency" EXACT CLINGEN_LABEL [https://orcid.org/0000-0002-4455-3112] -synonym: "IMD37" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616098] -synonym: "immunodeficiency 37" EXACT [MONDO:Lexical, OMIM:616098] -synonym: "immunodeficiency type 37" EXACT [MONDORULE:2, OMIM:616098] +synonym: "IMD37" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 37" EXACT [DOID:0111939, MONDO:Lexical, OMIM:616098] +synonym: "immunodeficiency type 37" EXACT [MONDORULE:2] synonym: "primary immunodeficiency disease caused by mutation in BCL10" EXACT [MONDO:design_pattern] xref: DOID:0111939 {source="MONDO:equivalentTo"} xref: MEDGEN:863632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -334592,14 +334652,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:420686"} subset: orphanet_rare {source="Orphanet:420686"} subset: rare -synonym: "keratoderma with woolly hair type IV" EXACT OMO:0003005 [] -synonym: "keratoderma with wooly hair type IV" EXACT [Orphanet:420686] +synonym: "keratoderma with woolly hair type IV" EXACT OMO:0003005 [DOID:0070554, Orphanet:420686] +synonym: "keratoderma with wooly hair type IV" EXACT [] synonym: "KWWH type IV" EXACT [Orphanet:420686] synonym: "palmoplantar keratoderma and woolly hair" RELATED OMO:0003005 [] -synonym: "palmoplantar keratoderma and wooly hair" RELATED [MONDO:Lexical, OMIM:616099] -synonym: "PPKWH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616099] -synonym: "woolly hair-palmoplantar hyperkeratosis syndrome" EXACT OMO:0003005 [] -synonym: "wooly hair-palmoplantar hyperkeratosis syndrome" EXACT [Orphanet:420686] +synonym: "palmoplantar keratoderma and wooly hair" RELATED [MONDO:Lexical] +synonym: "PPKWH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "woolly hair-palmoplantar hyperkeratosis syndrome" EXACT OMO:0003005 [Orphanet:420686] +synonym: "wooly hair-palmoplantar hyperkeratosis syndrome" EXACT [] xref: DOID:0070554 {source="MONDO:equivalentTo"} xref: GARD:17697 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:420686/attributed", source="Orphanet:420686/ntbt", source="Orphanet:420686"} @@ -334622,20 +334682,21 @@ subset: ordo_disorder {source="Orphanet:436159"} subset: orphanet_rare {source="Orphanet:436159"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALPS due to CTLA4 haploinsufficiency" EXACT [Orphanet:436159] -synonym: "ALPS type 5" EXACT [Orphanet:436159] -synonym: "ALPS type V" EXACT [Orphanet:436159] -synonym: "ALPS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616100] +synonym: "ALPS due to CTLA4 haploinsufficiency" EXACT [] +synonym: "ALPS type 5" EXACT [] +synonym: "ALPS type V" EXACT [] +synonym: "ALPS5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency" EXACT CLINGEN_LABEL [] -synonym: "autoimmune lymphoproliferative syndrome type 5" EXACT [Orphanet:436159] -synonym: "autoimmune lymphoproliferative syndrome type V" EXACT [Orphanet:436159] -synonym: "autoimmune lymphoproliferative syndrome, type 5" RELATED [OMIM:616100] -synonym: "autoimmune lymphoproliferative syndrome, type V" RELATED [GARD:0012316, MONDO:Lexical, OMIM:616100] -synonym: "chai" EXACT [Orphanet:436159] +synonym: "autoimmune lymphoproliferative syndrome type 5" EXACT [] +synonym: "autoimmune lymphoproliferative syndrome type V" EXACT [] +synonym: "autoimmune lymphoproliferative syndrome, type 5" RELATED [] +synonym: "autoimmune lymphoproliferative syndrome, type V" RELATED [GARD:0012316, MONDO:Lexical] +synonym: "CHAI" EXACT ABBREVIATION [NCIT:C126341, Orphanet:436159] +synonym: "chai" EXACT [] synonym: "CTLA-4 haploinsufficiency with autoimmune infiltration disease" EXACT [Orphanet:436159] synonym: "CTLA4 haploinsufficiency" EXACT [NCIT:C126341] -synonym: "CTLA4 haploinsufficiency with autoimmune infiltration" RELATED [OMIM:616100] -synonym: "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" EXACT [OMIM:616100, OMIM:genemap2] +synonym: "CTLA4 haploinsufficiency with autoimmune infiltration" RELATED [] +synonym: "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" EXACT [OMIM:616100] xref: GARD:12316 {source="MONDO:GARD"} xref: ICD10CM:D47.9 {source="Orphanet:436159", source="Orphanet:436159/attributed", source="Orphanet:436159/ntbt"} xref: MEDGEN:863651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -334660,8 +334721,8 @@ synonym: "AP1S3 generalized pustular psoriasis" EXACT [MONDO:design_pattern, MON synonym: "generalised pustular psoriasis caused by mutation in AP1S3" EXACT OMO:0003005 [] synonym: "generalized pustular psoriasis caused by mutation in AP1S3" EXACT [MONDO:design_pattern] synonym: "psoriasis 15, pustular, susceptibility to" EXACT [MONDO:Lexical, OMIM:616106] -synonym: "PSORS15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616106] -synonym: "susceptibility to pustular psoriasis 15" RELATED [OMIM:616106] +synonym: "PSORS15" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "susceptibility to pustular psoriasis 15" RELATED [] xref: DOID:0111281 {source="MONDO:equivalentTo"} xref: MEDGEN:863672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616106 {source="MONDO:equivalentTo"} @@ -334682,8 +334743,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:436245"} subset: orphanet_rare {source="Orphanet:436245"} subset: rare -synonym: "RDJCSS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616108] -synonym: "retinal dystrophy, juvenile cataracts, and short stature syndrome" RELATED [MONDO:Lexical, OMIM:616108] +synonym: "RDJCSS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "retinal dystrophy, juvenile cataracts, and short stature syndrome" RELATED [MONDO:Lexical] synonym: "retinal dystrophy-juvenile cataract-short stature syndrome" EXACT [Orphanet:436245] xref: GARD:17730 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:436245/attributed", source="Orphanet:436245/btnt", source="Orphanet:436245"} @@ -334708,10 +334769,10 @@ name: mitochondrial complex III deficiency nuclear type 9 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16060", source="MONDO:GARD"} subset: rare -synonym: "MC3DN9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616111] -synonym: "mitochondrial Complex 3 deficiency, nuclear type 9" RELATED [OMIM:616111] +synonym: "MC3DN9" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mitochondrial Complex 3 deficiency, nuclear type 9" RELATED [] synonym: "mitochondrial complex III deficiency caused by mutation in UQCC3" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex III deficiency, nuclear type 9" RELATED [MONDO:Lexical, OMIM:616111] +synonym: "mitochondrial complex III deficiency, nuclear type 9" RELATED [MONDO:Lexical] synonym: "UQCC3 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080118 {source="MONDO:equivalentTo"} xref: GARD:16060 {source="MONDO:GARD"} @@ -334735,8 +334796,8 @@ subset: ordo_disorder {source="Orphanet:453533"} subset: orphanet_rare {source="Orphanet:453533"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PEPNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616113] -synonym: "polyendocrine-polyneuropathy syndrome" EXACT [MONDO:Lexical, OMIM:616113] +synonym: "PEPNS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "polyendocrine-polyneuropathy syndrome" EXACT [MONDO:Lexical, OMIM:616113, Orphanet:453533] xref: GARD:17787 {source="MONDO:GARD"} xref: MEDGEN:863698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616113 {source="Orphanet:453533", source="MONDO:equivalentTo", source="Orphanet:453533/e"} @@ -334761,10 +334822,10 @@ subset: ordo_disorder {source="Orphanet:576349"} subset: orphanet_rare {source="Orphanet:576349"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial cold autoinflammatory syndrome 4" EXACT [MONDO:Lexical, OMIM:616115] +synonym: "familial cold autoinflammatory syndrome 4" EXACT [DOID:0090065, MONDO:Lexical, OMIM:616115, Orphanet:576349] synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRC4" EXACT [MONDO:design_pattern] -synonym: "familial cold autoinflammatory syndrome type 4" EXACT [DOID:0090065, MONDORULE:1, OMIM:616115] -synonym: "FCAS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616115] +synonym: "familial cold autoinflammatory syndrome type 4" EXACT [MONDORULE:1] +synonym: "FCAS4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "NLRC4 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NLRC4-related familial cold autoinflammatory syndrome" EXACT [Orphanet:576349] xref: DOID:0090065 {source="MONDO:equivalentTo"} @@ -334790,11 +334851,11 @@ subset: gard_rare {source="GARD:22568", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal recessive 46" EXACT [MONDO:Lexical, OMIM:616116] -synonym: "intellectual disability, autosomal recessive type 46" EXACT [MONDORULE:2, OMIM:616116] -synonym: "mental retardation, autosomal recessive 46" RELATED DEPRECATED [MONDO:Lexical, OMIM:616116] -synonym: "mental retardation, autosomal recessive type 46" EXACT DEPRECATED [MONDORULE:2, OMIM:616116] -synonym: "MRT46" RELATED DEPRECATED [MONDO:Lexical, OMIM:616116] +synonym: "intellectual disability, autosomal recessive 46" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 46" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 46" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 46" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT46" RELATED DEPRECATED [MONDO:Lexical] synonym: "NDST1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081210 {source="MONDO:equivalentTo"} xref: GARD:22568 {source="MONDO:GARD"} @@ -334816,9 +334877,9 @@ subset: ordo_disorder {source="Orphanet:436242"} subset: orphanet_rare {source="Orphanet:436242"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CARDIAC conduction disease with or without dilated cardiomyopathy" RELATED [MONDO:Lexical, OMIM:616117] -synonym: "CCDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616117] -synonym: "familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease" RELATED [Orphanet:436242] +synonym: "CARDIAC conduction disease with or without dilated cardiomyopathy" RELATED [MONDO:Lexical] +synonym: "CCDD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease" RELATED [] xref: EFO:0005304 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:17729 {source="MONDO:GARD"} xref: ICD10CM:I45.8 {source="Orphanet:436242", source="Orphanet:436242/attributed", source="Orphanet:436242/ntbt"} @@ -334835,7 +334896,7 @@ name: macular degeneration, early-onset subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EOMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616118] +synonym: "EOMD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "macular degeneration, early-onset" EXACT [MONDO:Lexical, OMIM:616118] xref: MEDGEN:863723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616118 {source="MONDO:equivalentTo"} @@ -334855,12 +334916,12 @@ subset: orphanet_rare {source="Orphanet:319563"} subset: predisposition subset: rare synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15" EXACT [] -synonym: "IMD38" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616126] -synonym: "immunodeficiency 38" EXACT [OMIM:616126, OMIM:genemap2] -synonym: "immunodeficiency 38 with basal ganglia calcification" RELATED [MONDO:Lexical, OMIM:616126] -synonym: "immunodeficiency 38, Mycobacteriosis, autosomal recessive" RELATED [OMIM:616126] +synonym: "IMD38" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 38" EXACT [DOID:0111934] +synonym: "immunodeficiency 38 with basal ganglia calcification" RELATED [MONDO:Lexical] +synonym: "immunodeficiency 38, Mycobacteriosis, autosomal recessive" RELATED [] synonym: "ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "ISG15 deficiency, autosomal recessive" RELATED [OMIM:616126] +synonym: "ISG15 deficiency, autosomal recessive" RELATED [] synonym: "MSMD due to complete ISG15 deficiency" EXACT [Orphanet:319563] xref: DOID:0111934 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.8 {source="Orphanet:319563", source="Orphanet:319563/attributed", source="Orphanet:319563/ntbt"} @@ -334882,14 +334943,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:453521"} subset: orphanet_rare {source="Orphanet:453521"} subset: rare -synonym: "autosomal recessive cerebellar ataxia due to CWF19L1 deficiency" RELATED [Orphanet:453521] +synonym: "autosomal recessive cerebellar ataxia due to CWF19L1 deficiency" RELATED [] synonym: "autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive spinocerebellar ataxia type 17" EXACT [DOID:0080064, MONDORULE:2] +synonym: "autosomal recessive spinocerebellar ataxia type 17" EXACT [MONDORULE:2] synonym: "CWF19L1 autosomal recessive congenital cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SCAR17" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616127, Orphanet:453521] +synonym: "SCAR17" EXACT ABBREVIATION [DOID:0080064, MONDO:Lexical, OMIM:616127, Orphanet:453521] synonym: "spinocerebellar ataxia autosomal recessive type 17" EXACT [Orphanet:453521] -synonym: "spinocerebellar ataxia, autosomal recessive 17" RELATED [MONDO:Lexical, OMIM:616127] -synonym: "spinocerebellar ataxia, autosomal recessive type 17" EXACT [MONDORULE:2, OMIM:616127] +synonym: "spinocerebellar ataxia, autosomal recessive 17" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 17" EXACT [MONDORULE:2] xref: DOID:0080064 {source="MONDO:equivalentTo"} xref: GARD:17786 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:453521/attributed", source="Orphanet:453521/ntbt", source="Orphanet:453521"} @@ -334913,8 +334974,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Perrault syndrome 5" EXACT [MONDO:Lexical, OMIM:616138] synonym: "Perrault syndrome caused by mutation in TWNK" EXACT [MONDO:design_pattern] -synonym: "Perrault syndrome type 5" EXACT [MONDORULE:1, OMIM:616138] -synonym: "PRLTS5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616138] +synonym: "Perrault syndrome type 5" EXACT [MONDORULE:1] +synonym: "PRLTS5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TWNK Perrault syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16062 {source="MONDO:GARD"} xref: MEDGEN:863744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -334934,12 +334995,12 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16063", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE27" EXACT ABBREVIATION [OMIM:616139] -synonym: "developmental and epileptic encephalopathy 27" EXACT [OMIM:616139, OMIM:genemap2] +synonym: "DEE27" EXACT ABBREVIATION [DOID:0080444, OMIM:616139] +synonym: "developmental and epileptic encephalopathy 27" EXACT [DOID:0080444, OMIM:616139] synonym: "early infantile epileptic encephalopathy caused by mutation in GRIN2B" EXACT [MONDO:design_pattern] -synonym: "EIEE27" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616139] +synonym: "EIEE27" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 27" EXACT [MONDO:Lexical, OMIM:616139] -synonym: "epileptic encephalopathy, early infantile, type 27" EXACT [MONDORULE:2, OMIM:616139] +synonym: "epileptic encephalopathy, early infantile, type 27" EXACT [MONDORULE:2] synonym: "GRIN2B early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080444 {source="MONDO:equivalentTo"} xref: GARD:16063 {source="MONDO:GARD"} @@ -334965,12 +335026,12 @@ subset: orphanet_rare {source="Orphanet:438114"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HLD9" EXACT ABBREVIATION [DOID:0060791, MONDO:Lexical, OMIM:616140] -synonym: "hypomyelinating leukodystrophy type 9" EXACT [DOID:0060791, MONDORULE:1] +synonym: "hypomyelinating leukodystrophy type 9" EXACT [MONDORULE:1] synonym: "leukodystrophy caused by mutation in RARS" EXACT [MONDO:design_pattern] -synonym: "leukodystrophy, hypomyelinating, 9" RELATED [MONDO:Lexical, OMIM:616140] -synonym: "leukodystrophy, hypomyelinating, type 9" EXACT [MONDORULE:1, OMIM:616140] +synonym: "leukodystrophy, hypomyelinating, 9" RELATED [MONDO:Lexical] +synonym: "leukodystrophy, hypomyelinating, type 9" EXACT [MONDORULE:1] synonym: "RARS leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [DOID:0060791] +synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [DOID:0060791, Orphanet:438114] xref: DOID:0060791 {source="MONDO:equivalentTo"} xref: GARD:17734 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="DOID:0060791", source="Orphanet:438114/attributed", source="Orphanet:438114/ntbt", source="Orphanet:438114"} @@ -334996,18 +335057,18 @@ subset: ordo_malformation_syndrome {source="Orphanet:1388"} subset: orphanet_rare {source="Orphanet:1388"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Catel Manzke Syndrome" EXACT [NORD:901] +synonym: "Catel Manzke Syndrome" EXACT [DOID:0081122, NORD:901] synonym: "Catel Manzke syndrome" RELATED [GARD:0000028] -synonym: "Catel-Manzke syndrome" EXACT [MONDO:Lexical, OMIM:616145] -synonym: "CATMANS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616145] -synonym: "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" EXACT [Orphanet:1388] -synonym: "index finger anomaly with Pierre Robin syndrome" RELATED [OMIM:616145] +synonym: "Catel-Manzke syndrome" EXACT [icd11.foundation:1023183031, MONDO:Lexical, OMIM:616145, Orphanet:1388] +synonym: "CATMANS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" EXACT [DOID:0081122, OMIM:616145, Orphanet:1388] +synonym: "index finger anomaly with Pierre Robin syndrome" RELATED [] synonym: "index finger anomaly-Pierre Robin syndrome" EXACT [Orphanet:1388] -synonym: "micrognathia digital syndrome" EXACT [OMIM:616145, Orphanet:1388] +synonym: "micrognathia digital syndrome" EXACT [DOID:0081122, OMIM:616145, Orphanet:1388] synonym: "Palatodigital syndrome Catel-Manzke type" RELATED [GARD:0000028] synonym: "Palatodigital syndrome, Catel-Manzke type" EXACT [OMIM:616145, Orphanet:1388] synonym: "Pierre Robin sequence-hyperphalangy-clinodactyly syndrome" EXACT [Orphanet:1388] -synonym: "Pierre Robin syndrome with hyperphalangy and clinodactyly" RELATED [OMIM:616145] +synonym: "Pierre Robin syndrome with hyperphalangy and clinodactyly" RELATED [] synonym: "Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome" EXACT [Orphanet:1388] xref: DOID:0081122 {source="MONDO:equivalentTo"} xref: GARD:28 {source="MONDO:GARD"} @@ -335041,9 +335102,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "IMPG1 vitelliform macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "macular dystrophy, vitelliform, 4" EXACT [MONDO:Lexical, OMIM:616151] -synonym: "macular dystrophy, vitelliform, type 4" EXACT [MONDORULE:1, OMIM:616151] +synonym: "macular dystrophy, vitelliform, type 4" EXACT [MONDORULE:1] synonym: "vitelliform macular dystrophy caused by mutation in IMPG1" EXACT [MONDO:design_pattern] -synonym: "VMD4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616151] +synonym: "VMD4" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16064 {source="MONDO:GARD"} xref: MEDGEN:863779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616151 {source="MONDO:equivalentTo"} @@ -335066,9 +335127,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "IMPG2 vitelliform macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "macular dystrophy, vitelliform, 5" EXACT [MONDO:Lexical, OMIM:616152] -synonym: "macular dystrophy, vitelliform, type 5" EXACT [MONDORULE:1, OMIM:616152] +synonym: "macular dystrophy, vitelliform, type 5" EXACT [MONDORULE:1] synonym: "vitelliform macular dystrophy caused by mutation in IMPG2" EXACT [MONDO:design_pattern] -synonym: "VMD5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616152] +synonym: "VMD5" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16065 {source="MONDO:GARD"} xref: MEDGEN:863780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616152 {source="MONDO:equivalentTo"} @@ -335094,16 +335155,16 @@ subset: ordo_disorder {source="Orphanet:438178"} subset: orphanet_rare {source="Orphanet:438178"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FAR1 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/] -synonym: "fatty acyl-CoA reductase 1 deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] -synonym: "fatty acyl-CoA reductase 1 disorder" EXACT [Orphanet:438178] +synonym: "FAR1 deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40049/, Orphanet:438178] +synonym: "fatty acyl-CoA reductase 1 deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, Orphanet:438178] +synonym: "fatty acyl-CoA reductase 1 disorder" EXACT [] synonym: "fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency" EXACT [https://orcid.org/0000-0002-6733-369X] -synonym: "peroxisomal fatty acyl-CoA reductase 1 disorder" RELATED [MONDO:Lexical, OMIM:616154] -synonym: "PFCRD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616154] +synonym: "peroxisomal fatty acyl-CoA reductase 1 disorder" RELATED [MONDO:Lexical] +synonym: "PFCRD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "rhizomelic chondrodysplasia punctata type 4" EXACT [https://www.clinicalgenome.org/affiliation/40049/, PMID:25439727, PMID:26220973] -synonym: "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency" EXACT [https://github.com/monarch-initiative/mondo/issues/811, Orphanet:438178] +synonym: "severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency" EXACT [https://github.com/monarch-initiative/mondo/issues/811] synonym: "severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency" EXACT [] -synonym: "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder" EXACT [Orphanet:438178] +synonym: "severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder" EXACT [] xref: DOID:0081243 {source="MONDO:equivalentTo"} xref: GARD:13319 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:438178", source="Orphanet:438178/attributed", source="Orphanet:438178/ntbt"} @@ -335134,11 +335195,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive axonal Charcot-Marie-Tooth type 2S" EXACT [DOID:0110171] synonym: "Charcot-Marie-Tooth disease caused by mutation in IGHMBP2" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease type 2S" EXACT [DOID:0110171] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S" RELATED [OMIM:616155] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2S" RELATED [MONDO:Lexical, OMIM:616155] +synonym: "Charcot-Marie-Tooth disease type 2S" EXACT [DOID:0110171, Orphanet:443073] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2S" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy type 2S" EXACT [DOID:0110171] -synonym: "Charcot-Marie-Tooth neuropathy, type 2S" RELATED [OMIM:616155] +synonym: "Charcot-Marie-Tooth neuropathy, type 2S" RELATED [] synonym: "CMT2S" EXACT ABBREVIATION [DOID:0110171, MONDO:Lexical, OMIM:616155, Orphanet:443073] synonym: "IGHMBP2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110171 {source="MONDO:equivalentTo"} @@ -335163,16 +335224,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:438216"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 31" EXACT [DOID:0070061] +synonym: "autosomal dominant intellectual disability 31" EXACT [] synonym: "autosomal dominant mental retardation 31" EXACT DEPRECATED [DOID:0070061] -synonym: "autosomal dominant non-syndromic intellectual disability 31" RELATED [DOID:0070061] -synonym: "intellectual disability, autosomal dominant 31" RELATED [MONDO:Lexical, OMIM:616158] -synonym: "intellectual disability, autosomal dominant type 31" EXACT [MONDORULE:2, OMIM:616158] -synonym: "mental retardation, autosomal dominant 31" RELATED DEPRECATED [MONDO:Lexical, OMIM:616158] -synonym: "mental retardation, autosomal dominant type 31" EXACT DEPRECATED [MONDORULE:2, OMIM:616158] -synonym: "MRD31" EXACT ABBREVIATION [DOID:0070061, MONDO:Lexical, OMIM:616158] -synonym: "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" EXACT [OMIM:616158, OMIM:genemap2] -synonym: "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" EXACT CLINGEN_LABEL [] +synonym: "autosomal dominant non-syndromic intellectual disability 31" RELATED [] +synonym: "intellectual disability, autosomal dominant 31" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 31" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 31" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 31" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD31" EXACT ABBREVIATION [DOID:0070061, MONDO:Lexical] +synonym: "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" EXACT [OMIM:616158] +synonym: "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" EXACT CLINGEN_LABEL [Orphanet:438216] xref: DOID:0070061 {source="MONDO:equivalentTo"} xref: GARD:17740 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:438216", source="Orphanet:438216/attributed", source="Orphanet:438216/ntbt"} @@ -335194,9 +335255,9 @@ subset: gard_rare {source="GARD:16066", source="MONDO:GARD"} subset: rare synonym: "LMOD3 nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "NEM10" EXACT ABBREVIATION [DOID:0110931, MONDO:Lexical, OMIM:616165] -synonym: "nemaline myopathy 10" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616165] +synonym: "nemaline myopathy 10" EXACT CLINGEN_LABEL [DOID:0110931, MONDO:Lexical, OMIM:616165] synonym: "nemaline myopathy caused by mutation in LMOD3" EXACT [MONDO:design_pattern] -synonym: "nemaline myopathy type 10" EXACT [DOID:0110931, MONDORULE:2, OMIM:616165] +synonym: "nemaline myopathy type 10" EXACT [MONDORULE:2] xref: DOID:0110931 {source="MONDO:equivalentTo"} xref: GARD:16066 {source="MONDO:GARD"} xref: MEDGEN:863797 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -335218,10 +335279,10 @@ def: "Any familial thoracic aortic aneurysm and aortic dissection in which the c subset: gard_rare {source="GARD:16067", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AAT9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616166] +synonym: "AAT9" RELATED ABBREVIATION [MONDO:Lexical] synonym: "aortic aneurysm, familial thoracic 9" EXACT [MONDO:Lexical, OMIM:616166] -synonym: "aortic aneurysm, familial thoracic type 9" EXACT [MONDORULE:1, OMIM:616166] -synonym: "aortic aneurysm, thoracic, with or without aortic dissection" RELATED [OMIM:616166] +synonym: "aortic aneurysm, familial thoracic type 9" EXACT [MONDORULE:1] +synonym: "aortic aneurysm, thoracic, with or without aortic dissection" RELATED [] synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5" EXACT [MONDO:design_pattern] synonym: "MFAP5 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16067 {source="MONDO:GARD"} @@ -335241,7 +335302,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CCMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616170] +synonym: "CCMD" RELATED ABBREVIATION [MONDO:Lexical] synonym: "macular dystrophy with central cone involvement" EXACT [MONDO:Lexical, OMIM:616170] xref: MEDGEN:863808 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616170 {source="MONDO:equivalentTo"} @@ -335256,11 +335317,11 @@ def: "Any microcephaly and chorioretinopathy in which the cause of the disease i subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCCRP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616171] +synonym: "MCCRP2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly and chorioretinopathy caused by mutation in PLK4" EXACT [MONDO:design_pattern] -synonym: "microcephaly and chorioretinopathy type 2" EXACT [DOID:0080106, MONDORULE:1] -synonym: "microcephaly and chorioretinopathy, autosomal recessive, 2" RELATED [MONDO:Lexical, OMIM:616171] -synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:616171] +synonym: "microcephaly and chorioretinopathy type 2" EXACT [MONDORULE:1] +synonym: "microcephaly and chorioretinopathy, autosomal recessive, 2" RELATED [MONDO:Lexical] +synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 2" EXACT [MONDORULE:1] synonym: "PLK4 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080106 {source="MONDO:equivalentTo"} xref: MEDGEN:863825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -335280,8 +335341,8 @@ name: generalized epilepsy with febrile seizures plus, type 9 def: "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18668", source="MONDO:GARD"} subset: rare -synonym: "Gefs+, type 9" RELATED [OMIM:616172] -synonym: "GEFSP9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616172] +synonym: "Gefs+, type 9" RELATED [] +synonym: "GEFSP9" RELATED ABBREVIATION [MONDO:Lexical] synonym: "generalised epilepsy with febrile seizures plus caused by mutation in STX1B" EXACT OMO:0003005 [] synonym: "generalised epilepsy with febrile seizures plus caused by mutation in STX1b" EXACT OMO:0003005 [] synonym: "generalized epilepsy with febrile seizures plus caused by mutation in STX1B" EXACT [] @@ -335313,10 +335374,10 @@ subset: orphanet_rare {source="Orphanet:438207"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDPLT19" EXACT ABBREVIATION [DOID:0111048, MONDO:Lexical, OMIM:616176] -synonym: "bleeding disorder, platelet-type, 19" RELATED [MONDO:Lexical, OMIM:616176] +synonym: "bleeding disorder, platelet-type, 19" RELATED [MONDO:Lexical] synonym: "isolated hereditary giant platelet disorder caused by mutation in PRKACG" EXACT [MONDO:design_pattern] synonym: "PRKACG isolated hereditary giant platelet disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "severe autosomal recessive macrothrombocytopenia" EXACT [DOID:0111048] +synonym: "severe autosomal recessive macrothrombocytopenia" EXACT [DOID:0111048, Orphanet:438207] xref: DOID:0111048 {source="MONDO:equivalentTo"} xref: GARD:17738 {source="MONDO:GARD"} xref: ICD10CM:D69.4 {source="Orphanet:438207/attributed", source="Orphanet:438207/ntbt", source="Orphanet:438207", source="DOID:0111048"} @@ -335332,7 +335393,7 @@ id: MONDO:0014519 name: chronic mountain sickness, susceptibility to subset: predisposition synonym: "chronic mountain sickness, susceptibility to" EXACT [OMIM:616182] -synonym: "Monge disease" RELATED [OMIM:616182] +synonym: "Monge disease" RELATED [] xref: MEDGEN:545568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616182 {source="MONDO:equivalentTo"} xref: UMLS:C0274294 {source="MONDO:equivalentTo", source="MEDGEN:545568", source="MONDO:MEDGEN"} @@ -335350,9 +335411,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:444048"} subset: orphanet_rare {source="Orphanet:444048"} subset: rare -synonym: "ODG4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616185] -synonym: "ovarian dysgenesis 4" RELATED [MONDO:Lexical, OMIM:616185] -synonym: "ovarian dysgenesis type 4" EXACT [MONDORULE:1, OMIM:616185] +synonym: "ODG4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ovarian dysgenesis 4" RELATED [MONDO:Lexical] +synonym: "ovarian dysgenesis type 4" EXACT [MONDORULE:1] xref: DOID:0080496 {source="MONDO:equivalentTo"} xref: GARD:17760 {source="MONDO:GARD"} xref: ICD10CM:Q96.8 {source="Orphanet:444048/attributed", source="Orphanet:444048/ntbt", source="Orphanet:444048"} @@ -335372,16 +335433,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:435438"} subset: orphanet_rare {source="Orphanet:435438"} subset: rare -synonym: "epilepsy, progressive myoclonic 7" RELATED [MONDO:Lexical, OMIM:616187] -synonym: "epilepsy, progressive myoclonic type 7" EXACT [MONDORULE:1, OMIM:616187] -synonym: "EPM7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616187, Orphanet:435438] +synonym: "epilepsy, progressive myoclonic 7" RELATED [MONDO:Lexical] +synonym: "epilepsy, progressive myoclonic type 7" EXACT [MONDORULE:1] +synonym: "EPM7" EXACT ABBREVIATION [DOID:0111447, MONDO:Lexical, NCIT:C142804, OMIM:616187, Orphanet:435438] synonym: "KCNC1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "meak" EXACT [Orphanet:435438] -synonym: "myoclonus epilepsy and ataxia due to potassium channel mutation" EXACT [Orphanet:435438] -synonym: "PME type 7" EXACT [Orphanet:435438] +synonym: "MEAK" EXACT ABBREVIATION [DOID:0111447, Orphanet:435438] +synonym: "meak" EXACT [] +synonym: "myoclonus epilepsy and ataxia due to potassium channel mutation" EXACT [DOID:0111447, Orphanet:435438] +synonym: "PME type 7" EXACT [DOID:0111447, Orphanet:435438] synonym: "progressive myoclonic epilepsy caused by mutation in KCNC1" EXACT [MONDO:design_pattern] -synonym: "progressive myoclonic epilepsy due to KV3.1 deficiency" EXACT [Orphanet:435438] -synonym: "progressive myoclonus epilepsy type 7" EXACT [Orphanet:435438] +synonym: "progressive myoclonic epilepsy due to KV3.1 deficiency" EXACT [DOID:0111447, Orphanet:435438] +synonym: "progressive myoclonus epilepsy type 7" EXACT [DOID:0111447, Orphanet:435438] xref: DOID:0111447 {source="MONDO:equivalentTo"} xref: GARD:17715 {source="MONDO:GARD"} xref: ICD10CM:G40.3 {source="Orphanet:435438/attributed", source="Orphanet:435438/ntbt", source="Orphanet:435438"} @@ -335403,7 +335465,7 @@ name: retinal dystrophy and obesity subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RDOB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616188] +synonym: "RDOB" RELATED ABBREVIATION [MONDO:Lexical] synonym: "retinal dystrophy and obesity" EXACT [MONDO:Lexical, OMIM:616188] xref: MEDGEN:863861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616188 {source="MONDO:equivalentTo"} @@ -335420,8 +335482,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:445062"} subset: orphanet_rare {source="Orphanet:445062"} subset: rare -synonym: "ACPHD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616192] -synonym: "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" RELATED [MONDO:Lexical, OMIM:616192] +synonym: "ACPHD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" RELATED [MONDO:Lexical] synonym: "combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome" EXACT [Orphanet:445062] xref: GARD:17768 {source="MONDO:GARD"} xref: MEDGEN:863873 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -335442,12 +335504,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2" EXACT [MONDO:design_pattern] synonym: "FMN2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, autosomal recessive 47" EXACT [OMIM:616193, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 47" EXACT [MONDO:Lexical, OMIM:616193] -synonym: "intellectual disability, autosomal recessive type 47" EXACT [MONDORULE:2, OMIM:616193] -synonym: "mental retardation, autosomal recessive 47" RELATED DEPRECATED [MONDO:Lexical, OMIM:616193] -synonym: "mental retardation, autosomal recessive type 47" EXACT DEPRECATED [MONDORULE:2, OMIM:616193] -synonym: "MRT47" RELATED DEPRECATED [MONDO:Lexical, OMIM:616193] +synonym: "intellectual developmental disorder, autosomal recessive 47" EXACT [OMIM:616193] +synonym: "intellectual disability, autosomal recessive 47" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 47" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 47" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 47" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT47" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081211 {source="MONDO:equivalentTo"} xref: GARD:22569 {source="MONDO:GARD"} xref: MEDGEN:863881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -335468,10 +335530,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:444013"} subset: orphanet_rare {source="Orphanet:444013"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 23" RELATED [MONDO:Lexical, OMIM:616198] +synonym: "combined oxidative phosphorylation deficiency 23" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in GTPBP3" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 23" EXACT [MONDORULE:2, OMIM:616198] -synonym: "COXPD23" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616198, Orphanet:444013] +synonym: "combined oxidative phosphorylation deficiency type 23" EXACT [MONDORULE:2] +synonym: "COXPD23" EXACT ABBREVIATION [DOID:0111500, MONDO:Lexical, OMIM:616198, Orphanet:444013] synonym: "GTPBP3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111500 {source="MONDO:equivalentTo"} xref: GARD:17759 {source="MONDO:GARD"} @@ -335499,10 +335561,10 @@ subset: orphanet_rare {source="Orphanet:456369"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "GYG1 polyglucosan body myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PGBM2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616199] -synonym: "polyglucosan body myopathy 2" RELATED [MONDO:Lexical, OMIM:616199] +synonym: "PGBM2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "polyglucosan body myopathy 2" RELATED [MONDO:Lexical] synonym: "polyglucosan body myopathy caused by mutation in GYG1" EXACT [MONDO:design_pattern] -synonym: "polyglucosan body myopathy type 2" EXACT [MONDORULE:1, OMIM:616199] +synonym: "polyglucosan body myopathy type 2" EXACT [MONDORULE:1, Orphanet:456369] xref: GARD:17793 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:456369", source="Orphanet:456369/attributed", source="Orphanet:456369/ntbt"} xref: MEDGEN:863889 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -335528,9 +335590,9 @@ subset: ordo_disorder {source="Orphanet:435953"} subset: orphanet_rare {source="Orphanet:435953"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "RJALS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616200] -synonym: "RUIJS-Aalfs syndrome" RELATED [MONDO:Lexical, OMIM:616200] -synonym: "Ruijs-Aalfs syndrome" EXACT [Orphanet:435953] +synonym: "RJALS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "RUIJS-Aalfs syndrome" RELATED [MONDO:Lexical] +synonym: "Ruijs-Aalfs syndrome" EXACT [DOID:0111264, OMIM:616200, Orphanet:435953] xref: DOID:0111264 {source="MONDO:equivalentTo"} xref: GARD:17722 {source="MONDO:GARD"} xref: MEDGEN:863898 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -335552,10 +335614,10 @@ subset: ordo_disorder {source="Orphanet:435988"} subset: orphanet_rare {source="Orphanet:435988"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "caid" RELATED [MONDO:Lexical, OMIM:616201] +synonym: "caid" RELATED [MONDO:Lexical] synonym: "caid syndrome" EXACT [DOID:0060339, Orphanet:435988, PMID:25282101] -synonym: "chronic atrial and intestinal dysrhythmia" EXACT [MONDO:Lexical, OMIM:616201] -synonym: "chronic atrial and intestinal dysrhythmia syndrome" RELATED [Orphanet:435988] +synonym: "chronic atrial and intestinal dysrhythmia" EXACT [DOID:0060339, MONDO:Lexical, OMIM:616201] +synonym: "chronic atrial and intestinal dysrhythmia syndrome" RELATED [] synonym: "chronic atrial dysrhythmia-intestinal motility disorder" EXACT [Orphanet:435988] synonym: "chronic atrial intestinal dysrhythmia syndrome" RELATED [GARD:0012281] synonym: "Cohesinopathy affecting heart and gut rhythm" RELATED [GARD:0012281] @@ -335583,10 +335645,10 @@ subset: ordo_disorder {source="Orphanet:444072"} subset: ordo_malformation_syndrome {source="Orphanet:444072"} subset: orphanet_rare {source="Orphanet:444072"} subset: rare -synonym: "cerebellar-facial-dental syndrome" EXACT [OMIM:616202] -synonym: "CEREBELLOFACIODENTAL syndrome" RELATED [MONDO:Lexical, OMIM:616202] -synonym: "Cerebellofaciodental syndrome" EXACT [Orphanet:444072] -synonym: "CFDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616202] +synonym: "cerebellar-facial-dental syndrome" EXACT [DOID:0080898, OMIM:616202, Orphanet:444072] +synonym: "CEREBELLOFACIODENTAL syndrome" RELATED [MONDO:Lexical] +synonym: "Cerebellofaciodental syndrome" EXACT [DOID:0080898, OMIM:616202, Orphanet:444072] +synonym: "CFDS" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080898 {source="MONDO:equivalentTo"} xref: GARD:17761 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:444072", source="Orphanet:444072/attributed", source="Orphanet:444072/ntbt"} @@ -335612,14 +335674,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2" EXACT [] synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency" RELATED [Orphanet:363432] +synonym: "autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency" RELATED [] synonym: "autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency" EXACT [Orphanet:363432] -synonym: "autosomal recessive spinocerebellar ataxia type 18" EXACT [DOID:0080042, MONDORULE:2] +synonym: "autosomal recessive spinocerebellar ataxia type 18" EXACT [MONDORULE:2] synonym: "GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SCAR18" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616204, Orphanet:363432] -synonym: "spinocerebellar ataxia, autosomal recessive 18" RELATED [MONDO:Lexical, OMIM:616204] -synonym: "spinocerebellar ataxia, autosomal recessive type 18" EXACT [MONDORULE:2, OMIM:616204] +synonym: "SCAR18" EXACT ABBREVIATION [DOID:0080042, MONDO:Lexical, OMIM:616204, Orphanet:363432] +synonym: "spinocerebellar ataxia, autosomal recessive 18" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 18" EXACT [MONDORULE:2] xref: DOID:0080042 {source="MONDO:equivalentTo"} xref: GARD:17557 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:363432/attributed", source="Orphanet:363432/ntbt", source="Orphanet:363432"} @@ -335641,10 +335703,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:16068", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ALS 22" EXACT [DOID:0060355] -synonym: "ALS22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616208] +synonym: "ALS 22" EXACT [] +synonym: "ALS22" RELATED ABBREVIATION [MONDO:Lexical] synonym: "amyotrophic lateral sclerosis 22" EXACT [DOID:0060355] -synonym: "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" EXACT [DOID:0060355, MONDO:Lexical, OMIM:616208] +synonym: "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" EXACT [MONDO:Lexical, OMIM:616208] synonym: "amyotrophic lateral sclerosis caused by mutation in TUBA4A" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 22" EXACT CLINGEN_LABEL [DOID:0060355] synonym: "TUBA4A amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -335669,8 +335731,8 @@ subset: ordo_disorder {source="Orphanet:457050"} subset: orphanet_rare {source="Orphanet:457050"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616209] -synonym: "myopathy, isolated mitochondrial, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616209] +synonym: "IMMD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "myopathy, isolated mitochondrial, autosomal dominant" RELATED [MONDO:Lexical] xref: DOID:0081357 {source="MONDO:equivalentTo"} xref: GARD:17794 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:457050", source="Orphanet:457050/attributed", source="Orphanet:457050/ntbt"} @@ -335690,12 +335752,12 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16069", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE28" EXACT ABBREVIATION [OMIM:616211] -synonym: "developmental and epileptic encephalopathy 28" EXACT [OMIM:616211, OMIM:genemap2] +synonym: "DEE28" EXACT ABBREVIATION [DOID:0080452, OMIM:616211] +synonym: "developmental and epileptic encephalopathy 28" EXACT [DOID:0080452, OMIM:616211] synonym: "early infantile epileptic encephalopathy caused by mutation in WWOX" EXACT [MONDO:design_pattern] -synonym: "EIEE28" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616211] +synonym: "EIEE28" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 28" EXACT [MONDO:Lexical, OMIM:616211] -synonym: "epileptic encephalopathy, early infantile, type 28" EXACT [MONDORULE:2, OMIM:616211] +synonym: "epileptic encephalopathy, early infantile, type 28" EXACT [MONDORULE:2] synonym: "WOREE syndrome" EXACT [PMID:30356099] synonym: "WWOX early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "WWOX-related epileptic encephalopathy" EXACT [PMID:30356099] @@ -335721,9 +335783,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "KATNB1 Microlissencephaly" EXACT [MONDO:design_pattern] synonym: "KATNB1 microlissencephaly" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "LIS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616212] +synonym: "LIS6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "lissencephaly 6 with microcephaly" EXACT [MONDO:Lexical, OMIM:616212] -synonym: "lissencephaly 6, with microcephaly" EXACT [OMIM:616212, OMIM:genemap2] +synonym: "lissencephaly 6, with microcephaly" EXACT [] synonym: "Microlissencephaly caused by mutation in KATNB1" EXACT [MONDO:design_pattern] synonym: "microlissencephaly caused by mutation in KATNB1" EXACT [] xref: DOID:0112236 {source="MONDO:equivalentTo"} @@ -335762,12 +335824,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ETV6 thrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "THC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616216] +synonym: "THC5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "thrombocytopenia 5" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616216] -synonym: "thrombocytopenia 5 with increased susceptibility to malignancy" RELATED [OMIM:616216] +synonym: "thrombocytopenia 5 with increased susceptibility to malignancy" RELATED [] synonym: "thrombocytopenia caused by mutation in ETV6" EXACT [MONDO:design_pattern] -synonym: "thrombocytopenia type 5" EXACT [MONDORULE:1, OMIM:616216] -synonym: "thrombocytopenia, autosomal dominant, 5" RELATED [OMIM:616216] +synonym: "thrombocytopenia type 5" EXACT [MONDORULE:1] +synonym: "thrombocytopenia, autosomal dominant, 5" RELATED [] xref: MEDGEN:863974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616216 {source="MONDO:equivalentTo"} xref: UMLS:C4015537 {source="MONDO:equivalentTo", source="MEDGEN:863974", source="MONDO:MEDGEN"} @@ -335788,8 +335850,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DCDC2 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nephronophthisis (disease) caused by mutation in DCDC2" EXACT [] -synonym: "nephronophthisis 19" EXACT [MONDO:Lexical, OMIM:616217] -synonym: "nephronophthisis type 19" EXACT [DOID:0111126, MONDORULE:2, OMIM:616217] +synonym: "nephronophthisis 19" EXACT [DOID:0111126, MONDO:Lexical, OMIM:616217] +synonym: "nephronophthisis type 19" EXACT [MONDORULE:2] synonym: "NPHP19" EXACT ABBREVIATION [DOID:0111126, MONDO:Lexical, OMIM:616217] xref: DOID:0111126 {source="MONDO:equivalentTo"} xref: GARD:18081 {source="MONDO:GARD"} @@ -335809,11 +335871,11 @@ def: "Any congenital fibrosis of extraocular muscles in which the cause of the d subset: gard_rare {source="GARD:18164", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CFEOM5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616219] +synonym: "CFEOM5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "COL25A1 congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "congenital fibrosis of extraocular muscles caused by mutation in COL25A1" EXACT [MONDO:design_pattern] synonym: "fibrosis of extraocular muscles, congenital, 5" EXACT [MONDO:Lexical, OMIM:616219] -synonym: "fibrosis of extraocular muscles, congenital, type 5" EXACT [MONDORULE:1, OMIM:616219] +synonym: "fibrosis of extraocular muscles, congenital, type 5" EXACT [MONDORULE:1] xref: DOID:0081020 {source="MONDO:equivalentTo"} xref: GARD:18164 {source="MONDO:GARD"} xref: MEDGEN:863989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -335836,11 +335898,11 @@ subset: gard_rare {source="GARD:16070", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CRB2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "focal segmental glomerulosclerosis 9" EXACT [MONDO:Lexical, OMIM:616220] +synonym: "focal segmental glomerulosclerosis 9" EXACT [DOID:0111134, MONDO:Lexical, OMIM:616220] synonym: "focal segmental glomerulosclerosis caused by mutation in CRB2" EXACT [MONDO:design_pattern] -synonym: "focal segmental glomerulosclerosis type 9" EXACT [DOID:0111134, MONDORULE:1, OMIM:616220] +synonym: "focal segmental glomerulosclerosis type 9" EXACT [MONDORULE:1] synonym: "FSGS9" EXACT ABBREVIATION [DOID:0111134, MONDO:Lexical, OMIM:616220] -synonym: "glomerulosclerosis, focal segmental, 9" RELATED [OMIM:616220] +synonym: "glomerulosclerosis, focal segmental, 9" RELATED [] xref: DOID:0111134 {source="MONDO:equivalentTo"} xref: GARD:16070 {source="MONDO:GARD"} xref: ICD10CM:N04.1 {source="DOID:0111134"} @@ -335863,8 +335925,8 @@ subset: rare synonym: "AI1H" EXACT ABBREVIATION [DOID:0110064, MONDO:Lexical, OMIM:616221] synonym: "amelogenesis imperfecta caused by mutation in ITGB6" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta type IH" EXACT [DOID:0110064] -synonym: "amelogenesis imperfecta, type 1H" RELATED [OMIM:616221] -synonym: "amelogenesis imperfecta, type IH" RELATED [MONDO:Lexical, OMIM:616221] +synonym: "amelogenesis imperfecta, type 1H" RELATED [] +synonym: "amelogenesis imperfecta, type IH" RELATED [MONDO:Lexical] synonym: "ITGB6 amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110064 {source="MONDO:equivalentTo"} xref: GARD:16071 {source="MONDO:GARD"} @@ -335893,8 +335955,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "maternal uniparental disomy chromosome 14 syndrome" EXACT [NCIT:C120409] synonym: "mUPD14 syndrome" EXACT [NCIT:C120409] -synonym: "TEMPLE syndrome" RELATED [OMIM:616222] -synonym: "uniparental disomy, maternal, chromosome 14" RELATED [OMIM:616222] +synonym: "TEMPLE syndrome" RELATED [] +synonym: "uniparental disomy, maternal, chromosome 14" RELATED [] xref: DOID:0111713 {source="MONDO:equivalentTo"} xref: GARD:13431 {source="MONDO:GARD"} xref: MEDGEN:863995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -335918,11 +335980,11 @@ synonym: "ALG14 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MON synonym: "CMS15" EXACT ABBREVIATION [DOID:0110658, MONDO:Lexical, OMIM:616227] synonym: "congenital myasthenic syndrome 15 without tubular aggregates" EXACT [DOID:0110658] synonym: "congenital myasthenic syndrome caused by mutation in ALG14" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 15" EXACT [DOID:0110658, MONDORULE:2] -synonym: "myasthenic syndrome, congenital, 15" RELATED [MONDO:Lexical, OMIM:616227] -synonym: "myasthenic syndrome, congenital, 15, without tubular aggregates" EXACT [OMIM:616227, OMIM:genemap2] -synonym: "myasthenic syndrome, congenital, type 15" EXACT [MONDORULE:2, OMIM:616227] -synonym: "myasthenic syndrome, congenital, without tubular aggregates" RELATED [OMIM:616227] +synonym: "congenital myasthenic syndrome type 15" EXACT [MONDORULE:2] +synonym: "myasthenic syndrome, congenital, 15" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, 15, without tubular aggregates" EXACT [] +synonym: "myasthenic syndrome, congenital, type 15" EXACT [MONDORULE:2] +synonym: "myasthenic syndrome, congenital, without tubular aggregates" RELATED [] xref: DOID:0110658 {source="MONDO:equivalentTo"} xref: GARD:18453 {source="MONDO:GARD"} xref: MEDGEN:864033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -335951,15 +336013,15 @@ subset: rare synonym: "ALG2 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CMS14" EXACT ABBREVIATION [DOID:0110669, MONDO:Lexical, OMIM:616228] synonym: "CMSTA3" EXACT ABBREVIATION [DOID:0110669] -synonym: "congenital myasthenic syndrome 14" EXACT CLINGEN_LABEL [] +synonym: "congenital myasthenic syndrome 14" EXACT CLINGEN_LABEL [DOID:0110669] synonym: "congenital myasthenic syndrome 14, with tubular aggregates" EXACT [DOID:0110669] -synonym: "congenital myasthenic syndrome type 14" EXACT [DOID:0110669, MONDORULE:2] +synonym: "congenital myasthenic syndrome type 14" EXACT [MONDORULE:2] synonym: "congenital myasthenic syndrome with tubular aggregates 3" EXACT [DOID:0110669] synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2" EXACT [MONDO:design_pattern] -synonym: "myasthenic syndrome, congenital, 14" RELATED [MONDO:Lexical, OMIM:616228] -synonym: "myasthenic syndrome, congenital, 14, with tubular aggregates" EXACT [OMIM:616228, OMIM:genemap2] -synonym: "myasthenic syndrome, congenital, type 14" EXACT [MONDORULE:2, OMIM:616228] -synonym: "myasthenic syndrome, congenital, with tubular aggregates 3" RELATED [OMIM:616228] +synonym: "myasthenic syndrome, congenital, 14" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, 14, with tubular aggregates" EXACT [] +synonym: "myasthenic syndrome, congenital, type 14" EXACT [MONDORULE:2] +synonym: "myasthenic syndrome, congenital, with tubular aggregates 3" RELATED [] xref: DOID:0110669 {source="MONDO:equivalentTo"} xref: GARD:18454 {source="MONDO:GARD"} xref: MEDGEN:864034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -335985,12 +336047,12 @@ subset: gard_rare {source="GARD:16072", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "chromosome 11p11.2 deletion syndrome 91.3-KB" EXACT [DOID:0110345] -synonym: "chromosome 11P11.2 deletion syndrome, 91.3-Kb" RELATED [OMIM:616229] -synonym: "OI, type 16" RELATED [OMIM:616229] +synonym: "chromosome 11P11.2 deletion syndrome, 91.3-Kb" RELATED [] +synonym: "OI, type 16" RELATED [] synonym: "OI16" EXACT ABBREVIATION [DOID:0110345, MONDO:Lexical, OMIM:616229] synonym: "osteogenesis imperfecta type XVI" EXACT [DOID:0110345] -synonym: "osteogenesis imperfecta, type 16" RELATED [OMIM:616229] -synonym: "osteogenesis imperfecta, type XVI" RELATED [MONDO:Lexical, OMIM:616229] +synonym: "osteogenesis imperfecta, type 16" RELATED [] +synonym: "osteogenesis imperfecta, type XVI" RELATED [MONDO:Lexical] xref: DOID:0110345 {source="MONDO:equivalentTo"} xref: GARD:16072 {source="MONDO:GARD"} xref: ICD10CM:Q78.0 {source="DOID:0110345"} @@ -336013,13 +336075,13 @@ subset: ordo_disorder {source="Orphanet:424027"} subset: orphanet_rare {source="Orphanet:424027"} subset: rare synonym: "CERS1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "epilepsy, progressive myoclonic, 8" RELATED [MONDO:Lexical, OMIM:616230] -synonym: "epilepsy, progressive myoclonic, type 8" EXACT [MONDORULE:1, OMIM:616230] +synonym: "epilepsy, progressive myoclonic, 8" RELATED [MONDO:Lexical] +synonym: "epilepsy, progressive myoclonic, type 8" EXACT [MONDORULE:1] synonym: "EPM8" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616230, Orphanet:424027] -synonym: "PME type 8" EXACT [Orphanet:424027] +synonym: "PME type 8" EXACT [DOID:0111451, Orphanet:424027] synonym: "progressive myoclonic epilepsy caused by mutation in CERS1" EXACT [MONDO:design_pattern] -synonym: "progressive myoclonic epilepsy due to CERS1 deficiency" EXACT [Orphanet:424027] -synonym: "progressive myoclonus epilepsy type 8" EXACT [Orphanet:424027] +synonym: "progressive myoclonic epilepsy due to CERS1 deficiency" EXACT [DOID:0111451, Orphanet:424027] +synonym: "progressive myoclonus epilepsy type 8" EXACT [DOID:0111451, Orphanet:424027] xref: DOID:0111451 {source="MONDO:equivalentTo"} xref: GARD:17706 {source="MONDO:GARD"} xref: ICD10CM:G40.3 {source="Orphanet:424027", source="Orphanet:424027/attributed", source="Orphanet:424027/ntbt"} @@ -336043,8 +336105,8 @@ subset: ordo_disorder {source="Orphanet:88635"} subset: orphanet_rare {source="Orphanet:88635"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "myopathy, vacuolar, with CASQ1 aggregates" RELATED [MONDO:Lexical, OMIM:616231] -synonym: "VMCQA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616231] +synonym: "myopathy, vacuolar, with CASQ1 aggregates" RELATED [MONDO:Lexical] +synonym: "VMCQA" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16770 {source="MONDO:GARD"} xref: ICD10CM:G71.8 {source="Orphanet:88635/attributed", source="Orphanet:88635/ntbt", source="Orphanet:88635"} xref: MEDGEN:864061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336065,10 +336127,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:444458"} subset: orphanet_rare {source="Orphanet:444458"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 24" RELATED [MONDO:Lexical, OMIM:616239] +synonym: "combined oxidative phosphorylation deficiency 24" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in NARS2" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 24" EXACT [MONDORULE:2, OMIM:616239] -synonym: "COXPD24" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616239, Orphanet:444458] +synonym: "combined oxidative phosphorylation deficiency type 24" EXACT [MONDORULE:2] +synonym: "COXPD24" EXACT ABBREVIATION [DOID:0111485, MONDO:Lexical, OMIM:616239, Orphanet:444458] synonym: "NARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111485 {source="MONDO:equivalentTo"} xref: GARD:17765 {source="MONDO:GARD"} @@ -336091,10 +336153,10 @@ subset: gard_rare {source="GARD:16073", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CALM1 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "long QT syndrome 14" EXACT [MONDO:Lexical, OMIM:616247] +synonym: "long QT syndrome 14" EXACT [DOID:0110655, MONDO:Lexical, NCIT:C177534, OMIM:616247] synonym: "long QT syndrome caused by mutation in CALM1" EXACT [MONDO:design_pattern] -synonym: "long QT syndrome type 14" EXACT [DOID:0110655, MONDORULE:2, OMIM:616247] -synonym: "LQT14" EXACT ABBREVIATION [DOID:0110655, MONDO:Lexical, OMIM:616247] +synonym: "long QT syndrome type 14" EXACT [MONDORULE:2] +synonym: "LQT14" EXACT ABBREVIATION [DOID:0110655, MONDO:Lexical, NCIT:C177534, OMIM:616247] xref: DOID:0110655 {source="MONDO:equivalentTo"} xref: GARD:16073 {source="MONDO:GARD"} xref: ICD10CM:I45.8 {source="DOID:0110655"} @@ -336117,10 +336179,10 @@ def: "Any lethal congenital contracture syndrome in which the cause of the disea subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "LCCS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616248] +synonym: "LCCS6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "lethal congenital contracture syndrome 6" EXACT [MONDO:Lexical, OMIM:616248] synonym: "lethal congenital contracture syndrome caused by mutation in ZBTB42" EXACT [MONDO:design_pattern] -synonym: "lethal congenital contracture syndrome type 6" EXACT [MONDORULE:1, OMIM:616248] +synonym: "lethal congenital contracture syndrome type 6" EXACT [MONDORULE:1] synonym: "ZBTB42 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:864123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616248 {source="MONDO:equivalentTo"} @@ -336138,9 +336200,9 @@ subset: gard_rare {source="GARD:16074", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CALM2 long QT syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "long QT syndrome 15" EXACT [MONDO:Lexical, OMIM:616249] +synonym: "long QT syndrome 15" EXACT [DOID:0110656, MONDO:Lexical, OMIM:616249] synonym: "long QT syndrome caused by mutation in CALM2" EXACT [MONDO:design_pattern] -synonym: "long QT syndrome type 15" EXACT [DOID:0110656, MONDORULE:2, OMIM:616249] +synonym: "long QT syndrome type 15" EXACT [MONDORULE:2] synonym: "LQT15" EXACT ABBREVIATION [DOID:0110656, MONDO:Lexical, OMIM:616249] xref: DOID:0110656 {source="MONDO:equivalentTo"} xref: GARD:16074 {source="MONDO:GARD"} @@ -336159,8 +336221,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014551 name: short stature with nonspecific skeletal abnormalities -synonym: "short stature with nonspecific skeletal abnormalities" EXACT [MONDO:Lexical, OMIM:616255] -synonym: "SNSK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616255] +synonym: "short stature with nonspecific skeletal abnormalities" EXACT [MONDO:Lexical] +synonym: "SNSK" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:906874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616255 {source="MONDO:equivalentTo"} xref: UMLS:C4225399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906874"} @@ -336177,9 +336239,9 @@ subset: ordo_disorder {source="Orphanet:439897"} subset: ordo_malformation_syndrome {source="Orphanet:439897"} subset: orphanet_rare {source="Orphanet:439897"} subset: rare -synonym: "Meckel syndrome 12" RELATED [MONDO:Lexical, OMIM:616258] -synonym: "Meckel syndrome type 12" EXACT [MONDORULE:2, OMIM:616258] -synonym: "MKS12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616258] +synonym: "Meckel syndrome 12" RELATED [MONDO:Lexical] +synonym: "Meckel syndrome type 12" EXACT [MONDORULE:2] +synonym: "MKS12" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17743 {source="MONDO:GARD"} xref: MEDGEN:864138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616258 {source="Orphanet:439897/e", source="MONDO:equivalentTo", source="Orphanet:439897"} @@ -336196,10 +336258,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014553 name: Tenorio syndrome subset: otar {source="MONDO:OTAR"} -synonym: "overgrowth, macrocephaly, and intellectual disability syndrome" RELATED [OMIM:616260] -synonym: "TENORIO syndrome" RELATED [OMIM:616260] +synonym: "overgrowth, macrocephaly, and intellectual disability syndrome" RELATED [] +synonym: "TENORIO syndrome" RELATED [] synonym: "Tenorio syndrome" EXACT [MONDO:Lexical, OMIM:616260] -synonym: "TNORS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616260] +synonym: "TNORS" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:864147 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616260 {source="MONDO:equivalentTo"} xref: UMLS:C4015710 {source="MEDGEN:864147", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336225,15 +336287,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "generalised deciduous skin type A" EXACT OMO:0003005 [] synonym: "generalised peeling skin syndrome type A" EXACT OMO:0003005 [] -synonym: "generalized deciduous skin type A" EXACT [Orphanet:263548] +synonym: "generalized deciduous skin type A" EXACT [] synonym: "generalized peeling skin syndrome type A" EXACT [Orphanet:263548] synonym: "non-inflammatory generalised peeling skin syndrome type A." EXACT OMO:0003005 [] synonym: "non-inflammatory generalized peeling skin syndrome type A." EXACT [Orphanet:263548] synonym: "non-inflammatory peeling skin syndrome type A" EXACT [Orphanet:263548] -synonym: "peeling skin syndrome 3" RELATED [MONDO:Lexical, OMIM:616265] -synonym: "peeling skin syndrome type 3" EXACT [MONDORULE:1, OMIM:616265] +synonym: "peeling skin syndrome 3" RELATED [MONDO:Lexical] +synonym: "peeling skin syndrome type 3" EXACT [MONDORULE:1] synonym: "PSS type A" EXACT [Orphanet:263548] -synonym: "PSS3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616265] +synonym: "PSS3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0070522 {source="MONDO:equivalentTo"} xref: GARD:17258 {source="MONDO:GARD"} xref: ICD10CM:Q80.8 {source="Orphanet:263548/attributed", source="Orphanet:263548/ntbt", source="Orphanet:263548"} @@ -336256,10 +336318,10 @@ subset: ordo_disorder {source="Orphanet:562528"} subset: orphanet_rare {source="Orphanet:562528"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CLIFAHDD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616266] -synonym: "CLIFAHDD syndrome" EXACT [Orphanet:562528] -synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT [MONDO:Lexical, OMIM:616266] -synonym: "congenital limbs-face contractures-hypotonia-developmental delay syndrome" EXACT [Orphanet:562528] +synonym: "CLIFAHDD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "CLIFAHDD syndrome" EXACT [DOID:0081048, Orphanet:562528] +synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT [DOID:0081048, MONDO:Lexical, OMIM:616266] +synonym: "congenital limbs-face contractures-hypotonia-developmental delay syndrome" EXACT [DOID:0081048, Orphanet:562528] xref: DOID:0081048 {source="MONDO:equivalentTo"} xref: EFO:1001868 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:16075 {source="MONDO:GARD"} @@ -336283,8 +336345,8 @@ subset: ordo_disorder {source="Orphanet:459033"} subset: orphanet_rare {source="Orphanet:459033"} subset: rare synonym: "AOA4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616267, Orphanet:459033] -synonym: "ataxia - oculomotor apraxia type 4" EXACT [MONDORULE:1, OMIM:616267] -synonym: "ataxia-oculomotor apraxia 4" RELATED [MONDO:Lexical, OMIM:616267] +synonym: "ataxia - oculomotor apraxia type 4" EXACT [MONDORULE:1] +synonym: "ataxia-oculomotor apraxia 4" RELATED [MONDO:Lexical] synonym: "ataxia-oculomotor apraxia-4" RELATED [GARD:0013111] synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP" EXACT [MONDO:design_pattern] synonym: "PNKP oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -336311,17 +336373,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:457193"} subset: orphanet_rare {source="Orphanet:457193"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Arboleda-Tham syndrome" EXACT [OMIM:616268, OMIM:genemap2] -synonym: "autosomal dominant intellectual disability 32" EXACT [DOID:0070062] -synonym: "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" EXACT CLINGEN_LABEL [] +synonym: "Arboleda-Tham syndrome" EXACT [DOID:0070062, OMIM:616268, Orphanet:457193] +synonym: "autosomal dominant intellectual disability 32" EXACT [] +synonym: "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" EXACT CLINGEN_LABEL [DOID:0070062, Orphanet:457193] synonym: "autosomal dominant mental retardation 32" EXACT DEPRECATED [DOID:0070062] -synonym: "autosomal dominant non-syndromic intellectual disability 32" RELATED [DOID:0070062] -synonym: "intellectual disability, autosomal dominant 32" RELATED [MONDO:Lexical, OMIM:616268] -synonym: "intellectual disability, autosomal dominant type 32" EXACT [MONDORULE:2, OMIM:616268] -synonym: "KAT6A Syndrome" EXACT [http://www.kat6a.org/, https://rarediseases.org/rare-diseases/kat6a-syndrome/, NORD:1954, PMID:30245513] -synonym: "mental retardation, autosomal dominant 32" RELATED DEPRECATED [MONDO:Lexical, OMIM:616268] -synonym: "mental retardation, autosomal dominant type 32" EXACT DEPRECATED [MONDORULE:2, OMIM:616268] -synonym: "MRD32" EXACT ABBREVIATION [DOID:0070062, MONDO:Lexical, OMIM:616268] +synonym: "autosomal dominant non-syndromic intellectual disability 32" RELATED [] +synonym: "intellectual disability, autosomal dominant 32" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 32" EXACT [MONDORULE:2] +synonym: "KAT6A Syndrome" EXACT [http://www.kat6a.org/, https://rarediseases.org/rare-diseases/kat6a-syndrome/, NORD:1954, OMIM:616268, Orphanet:457193, PMID:30245513] +synonym: "mental retardation, autosomal dominant 32" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 32" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD32" EXACT ABBREVIATION [DOID:0070062, MONDO:Lexical] xref: DOID:0070062 {source="MONDO:equivalentTo"} xref: GARD:17797 {source="MONDO:GARD"} xref: MEDGEN:903767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336349,11 +336411,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:457212"} subset: orphanet_rare {source="Orphanet:457212"} subset: rare -synonym: "intellectual disability, autosomal recessive 48" RELATED [MONDO:Lexical, OMIM:616269] -synonym: "intellectual disability, autosomal recessive type 48" EXACT [MONDORULE:2, OMIM:616269] -synonym: "mental retardation, autosomal recessive 48" RELATED DEPRECATED [MONDO:Lexical, OMIM:616269] -synonym: "mental retardation, autosomal recessive type 48" EXACT DEPRECATED [MONDORULE:2, OMIM:616269] -synonym: "MRT48" RELATED DEPRECATED [MONDO:Lexical, OMIM:616269] +synonym: "intellectual disability, autosomal recessive 48" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 48" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 48" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 48" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT48" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081212 {source="MONDO:equivalentTo"} xref: GARD:17798 {source="MONDO:GARD"} xref: MEDGEN:895952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336378,9 +336440,9 @@ synonym: "AMBN amelogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patte synonym: "amelogenesis imperfecta caused by mutation in AMBN" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypoplastic type IF" EXACT [DOID:0110065] synonym: "amelogenesis imperfecta type IF" EXACT [DOID:0110065] -synonym: "amelogenesis imperfecta, hypoplastic type 1F" RELATED [OMIM:616270] -synonym: "amelogenesis imperfecta, type 1F" RELATED [OMIM:616270] -synonym: "amelogenesis imperfecta, type IF" RELATED [MONDO:Lexical, OMIM:616270] +synonym: "amelogenesis imperfecta, hypoplastic type 1F" RELATED [] +synonym: "amelogenesis imperfecta, type 1F" RELATED [] +synonym: "amelogenesis imperfecta, type IF" RELATED [MONDO:Lexical] xref: DOID:0110065 {source="MONDO:equivalentTo"} xref: GARD:16076 {source="MONDO:GARD"} xref: ICD10CM:K00.5 {source="DOID:0110065"} @@ -336405,17 +336467,17 @@ subset: ordo_disorder {source="Orphanet:445038"} subset: orphanet_rare {source="Orphanet:445038"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3-methylglutaconic aciduria type 7" EXACT [DOID:0110003] +synonym: "3-methylglutaconic aciduria type 7" EXACT [DOID:0110003, Orphanet:445038] synonym: "3-methylglutaconic aciduria type VII" EXACT [DOID:0110003] synonym: "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia" EXACT [DOID:0110003] -synonym: "3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia" RELATED [MONDO:Lexical, OMIM:616271] -synonym: "3-Methylglutaconic aciduria, type 7" RELATED [OMIM:616271] -synonym: "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia" EXACT [OMIM:616271, OMIM:genemap2] -synonym: "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome" EXACT [Orphanet:445038] +synonym: "3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia" RELATED [MONDO:Lexical] +synonym: "3-Methylglutaconic aciduria, type 7" RELATED [] +synonym: "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia" EXACT [] +synonym: "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome" EXACT [] synonym: "CLPB 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MEGCANN" EXACT ABBREVIATION [DOID:0110003, MONDO:Lexical, OMIM:616271] +synonym: "MEGCANN" EXACT ABBREVIATION [DOID:0110003, MONDO:Lexical] synonym: "MGA7" EXACT ABBREVIATION [DOID:0110003, Orphanet:445038] -synonym: "MGCA7" EXACT ABBREVIATION [DOID:0110003] +synonym: "MGCA7" EXACT ABBREVIATION [DOID:0110003, OMIM:616271] xref: DOID:0081134 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0110003 {source="MONDO:equivalentTo"} xref: GARD:17767 {source="MONDO:GARD"} @@ -336439,11 +336501,11 @@ subset: ordo_disorder {source="Orphanet:457185"} subset: orphanet_rare {source="Orphanet:457185"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "coenzyme Q10 deficiency, primary, 7" RELATED [MONDO:Lexical, OMIM:616276] -synonym: "coenzyme Q10 deficiency, primary, type 7" EXACT [MONDORULE:1, OMIM:616276] -synonym: "COQ10D7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616276] -synonym: "COQ4-related neonatal encephalomyopathy" EXACT [Orphanet:457185] -synonym: "primary coenzyme Q10 deficiency 7" RELATED [DOID:0070244] +synonym: "coenzyme Q10 deficiency, primary, 7" RELATED [MONDO:Lexical] +synonym: "coenzyme Q10 deficiency, primary, type 7" EXACT [MONDORULE:1] +synonym: "COQ10D7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "COQ4-related neonatal encephalomyopathy" EXACT [DOID:0070244, Orphanet:457185] +synonym: "primary coenzyme Q10 deficiency 7" RELATED [] xref: DOID:0070244 {source="MONDO:equivalentTo"} xref: GARD:17796 {source="MONDO:GARD"} xref: MEDGEN:1799985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336463,9 +336525,9 @@ subset: ordo_disorder {source="Orphanet:653880"} subset: orphanet_rare {source="Orphanet:653880"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ECHS1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616277] -synonym: "mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency" RELATED [OMIM:616277] -synonym: "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616277] +synonym: "ECHS1D" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency" RELATED [] +synonym: "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" EXACT CLINGEN_LABEL [DOID:0070540, MONDO:Lexical, OMIM:616277, Orphanet:653880] synonym: "short-chain enoyl-CoA hydratase deficiency" RELATED [GARD:0013019] xref: DOID:0070540 {source="MONDO:equivalentTo"} xref: GARD:13019 {source="MONDO:GARD"} @@ -336487,12 +336549,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABCD3 congenital bile acid synthesis defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "bile acid synthesis defect, congenital, 5" RELATED [MONDO:Lexical, OMIM:616278] -synonym: "bile acid synthesis defect, congenital, type 5" EXACT [MONDORULE:1, OMIM:616278] +synonym: "bile acid synthesis defect, congenital, 5" RELATED [MONDO:Lexical] +synonym: "bile acid synthesis defect, congenital, type 5" EXACT [MONDORULE:1] synonym: "CBAS5" EXACT ABBREVIATION [DOID:0111066, MONDO:Lexical, OMIM:616278] -synonym: "congenital bile acid synthesis defect 5" EXACT [] +synonym: "congenital bile acid synthesis defect 5" EXACT [DOID:0111066] synonym: "congenital bile acid synthesis defect caused by mutation in ABCD3" EXACT [MONDO:design_pattern] -synonym: "congenital bile acid synthesis defect type 5" EXACT [DOID:0111066, MONDORULE:1] +synonym: "congenital bile acid synthesis defect type 5" EXACT [MONDORULE:1] xref: DOID:0111066 {source="MONDO:equivalentTo"} xref: MEDGEN:904751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616278 {source="MONDO:equivalentTo", source="DOID:0111066"} @@ -336512,8 +336574,8 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 43" EXACT [MONDO:Lexical, OMIM:616279] -synonym: "cataract type 43" EXACT [DOID:0110259, MONDORULE:2, OMIM:616279] +synonym: "cataract 43" EXACT [DOID:0110259, MONDO:Lexical, OMIM:616279] +synonym: "cataract type 43" EXACT [MONDORULE:2] synonym: "CTRCT43" EXACT ABBREVIATION [DOID:0110259, MONDO:Lexical, OMIM:616279] synonym: "early-onset non-syndromic cataract caused by mutation in UNC45B" EXACT [MONDO:design_pattern] synonym: "UNC45B early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -336542,12 +336604,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" EXACT [Orphanet:397735] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173, Orphanet:397735] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in MARS" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U" RELATED [OMIM:616280] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2U" RELATED [MONDO:Lexical, OMIM:616280] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2U" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy type 2U" EXACT [DOID:0110173] -synonym: "Charcot-Marie-Tooth neuropathy, type 2U" RELATED [OMIM:616280] +synonym: "Charcot-Marie-Tooth neuropathy, type 2U" RELATED [] synonym: "CMT2U" EXACT ABBREVIATION [DOID:0110173, MONDO:Lexical, OMIM:616280, Orphanet:397735] synonym: "MARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110173 {source="MONDO:equivalentTo"} @@ -336574,13 +336636,13 @@ subset: ordo_disorder {source="Orphanet:477673"} subset: orphanet_rare {source="Orphanet:477673"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glutamate pyruvate transaminase 2 deficiency" EXACT CLINGEN_LABEL [] -synonym: "GPT2 Deficiency" EXACT [NORD:91168] -synonym: "GPT2 deficiency" EXACT [https://orcid.org/0000-0002-5655-9589, PMID:31471722] -synonym: "mental retardation, autosomal recessive 49" EXACT DEPRECATED [MONDO:Lexical, OMIM:616281] -synonym: "mental retardation, autosomal recessive type 49" EXACT DEPRECATED [MONDORULE:2, OMIM:616281] -synonym: "MRT49" EXACT DEPRECATED [OMIM:616281] -synonym: "neurodevelopmental disorder with microcephaly and spastic paraplegia" EXACT [OMIM:616281, OMIM:genemap2] +synonym: "glutamate pyruvate transaminase 2 deficiency" EXACT CLINGEN_LABEL [DOID:0070542] +synonym: "GPT2 Deficiency" EXACT [DOID:0070542, NORD:91168] +synonym: "GPT2 deficiency" EXACT [DOID:0070542, https://orcid.org/0000-0002-5655-9589, PMID:31471722] +synonym: "mental retardation, autosomal recessive 49" EXACT DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 49" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT49" EXACT DEPRECATED [DOID:0070542] +synonym: "neurodevelopmental disorder with microcephaly and spastic paraplegia" EXACT [] synonym: "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" EXACT [Orphanet:477673] xref: DOID:0070542 {source="MONDO:equivalentTo"} xref: GARD:17853 {source="MONDO:GARD"} @@ -336615,10 +336677,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant pure spastic paraplegia caused by mutation in CPT1C" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic paraplegia 73" EXACT [DOID:0110818] -synonym: "autosomal dominant spastic paraplegia type 73" EXACT [DOID:0110818] +synonym: "autosomal dominant spastic paraplegia type 73" EXACT [DOID:0110818, Orphanet:444099] synonym: "CPT1C autosomal dominant pure spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia type 73" EXACT [DOID:0110818, MONDORULE:2] -synonym: "spastic paraplegia 73, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616282] +synonym: "hereditary spastic paraplegia type 73" EXACT [MONDORULE:2] +synonym: "spastic paraplegia 73, autosomal dominant" RELATED [MONDO:Lexical] synonym: "SPG73" EXACT ABBREVIATION [DOID:0110818, MONDO:Lexical, OMIM:616282, Orphanet:444099] xref: DOID:0110818 {source="MONDO:equivalentTo"} xref: GARD:17763 {source="MONDO:GARD"} @@ -336640,10 +336702,10 @@ subset: gard_rare {source="GARD:18564", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CNTNAP1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LCCS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616286] +synonym: "LCCS7" RELATED ABBREVIATION [MONDO:Lexical] synonym: "lethal congenital contracture syndrome 7" EXACT [MONDO:Lexical, OMIM:616286] synonym: "lethal congenital contracture syndrome caused by mutation in CNTNAP1" EXACT [MONDO:design_pattern] -synonym: "lethal congenital contracture syndrome type 7" EXACT [MONDORULE:1, OMIM:616286] +synonym: "lethal congenital contracture syndrome type 7" EXACT [MONDORULE:1] xref: GARD:18564 {source="MONDO:GARD"} xref: MEDGEN:894160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616286 {source="MONDO:equivalentTo"} @@ -336664,10 +336726,10 @@ subset: gard_rare {source="GARD:18565", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADCY6 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LCCS8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616287] +synonym: "LCCS8" RELATED ABBREVIATION [MONDO:Lexical] synonym: "lethal congenital contracture syndrome 8" EXACT [MONDO:Lexical, OMIM:616287] synonym: "lethal congenital contracture syndrome caused by mutation in ADCY6" EXACT [MONDO:design_pattern] -synonym: "lethal congenital contracture syndrome type 8" EXACT [MONDORULE:1, OMIM:616287] +synonym: "lethal congenital contracture syndrome type 8" EXACT [MONDORULE:1] xref: GARD:18565 {source="MONDO:GARD"} xref: MEDGEN:896058 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616287 {source="MONDO:equivalentTo"} @@ -336688,8 +336750,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ACO2 autosomal recessive isolated optic atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive isolated optic atrophy caused by mutation in ACO2" EXACT [MONDO:design_pattern] -synonym: "OPA9" RELATED ABBREVIATION [OMIM:616289] -synonym: "optic atrophy 9" EXACT [OMIM:616289] +synonym: "OPA9" RELATED ABBREVIATION [] +synonym: "optic atrophy 9" EXACT [DOID:0111442, OMIM:616289] xref: DOID:0111442 {source="MONDO:equivalentTo"} xref: GARD:18199 {source="MONDO:GARD"} xref: MEDGEN:898858 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336707,14 +336769,14 @@ subset: ordo_disorder {source="Orphanet:448251"} subset: orphanet_rare {source="Orphanet:448251"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive spinocerebellar ataxia 19" RELATED [DOID:0080065] -synonym: "autosomal recessive spinocerebellar ataxia type 19" EXACT [DOID:0080065, MONDORULE:2] -synonym: "Lichtenstein-Knorr syndrome" EXACT [MONDO:Lexical, OMIM:616291, Orphanet:448251] -synonym: "LIKNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616291] -synonym: "progressive autosomal recessive ataxia-deafness syndrome" RELATED [Orphanet:448251] +synonym: "autosomal recessive spinocerebellar ataxia 19" RELATED [] +synonym: "autosomal recessive spinocerebellar ataxia type 19" EXACT [MONDORULE:2] +synonym: "Lichtenstein-Knorr syndrome" EXACT [DOID:0080065, MONDO:Lexical, OMIM:616291, Orphanet:448251] +synonym: "LIKNS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "progressive autosomal recessive ataxia-deafness syndrome" RELATED [] synonym: "progressive autosomal recessive ataxia-sensorineural hearing loss syndrome" EXACT [Orphanet:448251] -synonym: "SCAR19" EXACT ABBREVIATION [Orphanet:448251] -synonym: "spinocerebellar ataxia, autosomal recessive 19" RELATED [OMIM:616291] +synonym: "SCAR19" EXACT ABBREVIATION [DOID:0080065, Orphanet:448251] +synonym: "spinocerebellar ataxia, autosomal recessive 19" RELATED [] xref: DOID:0080065 {source="MONDO:equivalentTo"} xref: GARD:17780 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:448251", source="Orphanet:448251/attributed", source="Orphanet:448251/ntbt"} @@ -336732,11 +336794,11 @@ def: "Any Cole-Carpenter syndrome in which the cause of the disease is a mutatio subset: gard_rare {source="GARD:16077", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CLCRP2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616294] -synonym: "COLE-CARPENTER syndrome 2" RELATED [OMIM:616294] +synonym: "CLCRP2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "COLE-CARPENTER syndrome 2" RELATED [] synonym: "Cole-Carpenter syndrome 2" EXACT [MONDO:Lexical, OMIM:616294] synonym: "Cole-Carpenter syndrome caused by mutation in SEC24D" EXACT [MONDO:design_pattern] -synonym: "Cole-Carpenter syndrome type 2" EXACT [MONDORULE:1, OMIM:616294] +synonym: "Cole-Carpenter syndrome type 2" EXACT [MONDORULE:1] synonym: "SEC24D Cole-Carpenter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16077 {source="MONDO:GARD"} xref: MEDGEN:905199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336758,10 +336820,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:444138"} subset: orphanet_rare {source="Orphanet:444138"} subset: rare -synonym: "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" RELATED [MONDO:Lexical, OMIM:616295] -synonym: "peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome" RELATED [Orphanet:444138] -synonym: "plack" RELATED [MONDO:Lexical, OMIM:616295] -synonym: "plack syndrome" EXACT [Orphanet:444138] +synonym: "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" RELATED [MONDO:Lexical] +synonym: "peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome" RELATED [] +synonym: "plack" RELATED [MONDO:Lexical] +synonym: "plack syndrome" EXACT [DOID:0070526, Orphanet:444138] xref: DOID:0070526 {source="MONDO:equivalentTo"} xref: GARD:17764 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:444138/attributed", source="Orphanet:444138/ntbt", source="Orphanet:444138"} @@ -336784,10 +336846,10 @@ subset: gard_rare {source="GARD:16078", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DDX58 singleton-Merten dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SGMRT2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616298] +synonym: "SGMRT2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "singleton-Merten dysplasia caused by mutation in DDX58" EXACT [MONDO:design_pattern] synonym: "singleton-Merten syndrome 2" EXACT [MONDO:Lexical, OMIM:616298] -synonym: "singleton-Merten syndrome type 2" EXACT [MONDORULE:1, OMIM:616298] +synonym: "singleton-Merten syndrome type 2" EXACT [MONDORULE:1] xref: GARD:16078 {source="MONDO:GARD"} xref: MEDGEN:907372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616298 {source="MONDO:equivalentTo"} @@ -336809,8 +336871,8 @@ subset: ordo_disorder {source="Orphanet:401862"} subset: orphanet_rare {source="Orphanet:401862"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lipoyltransferase 1 deficiency" RELATED [MONDO:Lexical, OMIM:616299] -synonym: "LIPT1D" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616299] +synonym: "lipoyltransferase 1 deficiency" RELATED [MONDO:Lexical] +synonym: "LIPT1D" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:12680 {source="MONDO:GARD"} xref: ICD10CM:E88.8 {source="Orphanet:401862", source="Orphanet:401862/attributed", source="Orphanet:401862/ntbt"} xref: MEDGEN:904073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336827,7 +336889,7 @@ def: "An asphyxiating thoracic dystrophy that has material basis in homozygous m subset: gard_rare {source="GARD:16079", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "short-rib thoracic dysplasia 13 with or without polydactyly" EXACT [MONDO:Lexical, OMIM:616300] +synonym: "short-rib thoracic dysplasia 13 with or without polydactyly" EXACT [DOID:0110093, MONDO:Lexical, OMIM:616300] synonym: "SRTD13" EXACT ABBREVIATION [DOID:0110093, MONDO:Lexical, OMIM:616300] xref: DOID:0110093 {source="MONDO:equivalentTo"} xref: GARD:16079 {source="MONDO:GARD"} @@ -336848,10 +336910,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CMS17" EXACT ABBREVIATION [DOID:0110674, MONDO:Lexical, OMIM:616304] synonym: "congenital myasthenic syndrome caused by mutation in LRP4" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 17" EXACT [DOID:0110674, MONDORULE:2] +synonym: "congenital myasthenic syndrome type 17" EXACT [MONDORULE:2] synonym: "LRP4 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "myasthenic syndrome, congenital, 17" RELATED [MONDO:Lexical, OMIM:616304] -synonym: "myasthenic syndrome, congenital, type 17" EXACT [MONDORULE:2, OMIM:616304] +synonym: "myasthenic syndrome, congenital, 17" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, type 17" EXACT [MONDORULE:2] xref: DOID:0110674 {source="MONDO:equivalentTo"} xref: GARD:16080 {source="MONDO:GARD"} xref: MEDGEN:895078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336871,11 +336933,11 @@ def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:16081", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SENIOR-Loken syndrome 8" RELATED [OMIM:616307] +synonym: "SENIOR-Loken syndrome 8" RELATED [] synonym: "Senior-Loken syndrome 8" EXACT [MONDO:Lexical, OMIM:616307] synonym: "Senior-Loken syndrome caused by mutation in WDR19" EXACT [MONDO:design_pattern] -synonym: "Senior-Loken syndrome type 8" EXACT [MONDORULE:1, OMIM:616307] -synonym: "SLSN8" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616307] +synonym: "Senior-Loken syndrome type 8" EXACT [MONDORULE:1] +synonym: "SLSN8" RELATED ABBREVIATION [MONDO:Lexical] synonym: "WDR19 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16081 {source="MONDO:GARD"} xref: MEDGEN:905171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336895,15 +336957,15 @@ def: "Any autosomal dominant non-syndromic intellectual disability in which the subset: gard_rare {source="GARD:16082", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant intellectual disability 33" EXACT [DOID:0070063] +synonym: "autosomal dominant intellectual disability 33" EXACT [] synonym: "autosomal dominant mental retardation 33" EXACT DEPRECATED [DOID:0070063] -synonym: "autosomal dominant non-syndromic intellectual disability 33" RELATED [DOID:0070063] +synonym: "autosomal dominant non-syndromic intellectual disability 33" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6" EXACT [MONDO:design_pattern] synonym: "DPP6 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal dominant 33" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616311] -synonym: "intellectual disability, autosomal dominant type 33" EXACT [MONDORULE:2, OMIM:616311] -synonym: "mental retardation, autosomal dominant 33" RELATED DEPRECATED [MONDO:Lexical, OMIM:616311] -synonym: "mental retardation, autosomal dominant type 33" EXACT DEPRECATED [MONDORULE:2, OMIM:616311] +synonym: "intellectual disability, autosomal dominant 33" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 33" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 33" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 33" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD33" EXACT ABBREVIATION [DOID:0070063, MONDO:Lexical, OMIM:616311] xref: DOID:0070063 {source="MONDO:equivalentTo"} xref: GARD:16082 {source="MONDO:GARD"} @@ -336928,8 +336990,8 @@ subset: rare synonym: "CMS IIa" RELATED [GARD:0009895] synonym: "CMS2A" EXACT ABBREVIATION [DOID:0110681, GARD:0009895, MONDO:Lexical, OMIM:616313] synonym: "congenital myasthenic syndrome 2A slow-channel" EXACT [DOID:0110681] -synonym: "congenital myasthenic syndrome type 2A" EXACT [DOID:0110681, MONDORULE:4] -synonym: "myasthenic syndrome, congenital, 2A, slow-channel" RELATED [MONDO:Lexical, OMIM:616313] +synonym: "congenital myasthenic syndrome type 2A" EXACT [MONDORULE:4] +synonym: "myasthenic syndrome, congenital, 2A, slow-channel" RELATED [MONDO:Lexical] synonym: "myasthenic syndrome, congenital, postsynaptic slow-channel" RELATED [GARD:0009895] synonym: "myasthenic syndrome, congenital, slow-channel" RELATED [GARD:0009895] synonym: "myasthenic syndrome, congenital, type IIa" RELATED [GARD:0009895] @@ -336956,8 +337018,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CMS2C" EXACT ABBREVIATION [DOID:0110680, MONDO:Lexical, OMIM:616314] synonym: "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency" EXACT [DOID:0110680] -synonym: "congenital myasthenic syndrome type 2C" EXACT [DOID:0110680, MONDORULE:4] -synonym: "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616314] +synonym: "congenital myasthenic syndrome type 2C" EXACT [MONDORULE:4] +synonym: "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical] xref: DOID:0110680 {source="MONDO:equivalentTo"} xref: GARD:16083 {source="MONDO:GARD"} xref: MEDGEN:903254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -336979,8 +337041,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CMS3A" EXACT ABBREVIATION [DOID:0110666, MONDO:Lexical, OMIM:616321] synonym: "congenital myasthenic syndrome 3A, slow-channel" EXACT [DOID:0110666] -synonym: "congenital myasthenic syndrome type 3A" EXACT [DOID:0110666, MONDORULE:4] -synonym: "myasthenic syndrome, congenital, 3A, slow-channel" RELATED [MONDO:Lexical, OMIM:616321] +synonym: "congenital myasthenic syndrome type 3A" EXACT [MONDORULE:4] +synonym: "myasthenic syndrome, congenital, 3A, slow-channel" RELATED [MONDO:Lexical] xref: DOID:0110666 {source="MONDO:equivalentTo"} xref: GARD:16084 {source="MONDO:GARD"} xref: MEDGEN:898378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337003,8 +337065,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CMS3B" EXACT ABBREVIATION [DOID:0110665, MONDO:Lexical, OMIM:616322] synonym: "congenital myasthenic syndrome 3B, fast-channel" EXACT [DOID:0110665] -synonym: "congenital myasthenic syndrome type 3B" EXACT [DOID:0110665, MONDORULE:4] -synonym: "myasthenic syndrome, congenital, 3B, FAST-channel" RELATED [MONDO:Lexical, OMIM:616322] +synonym: "congenital myasthenic syndrome type 3B" EXACT [MONDORULE:4] +synonym: "myasthenic syndrome, congenital, 3B, FAST-channel" RELATED [MONDO:Lexical] xref: DOID:0110665 {source="MONDO:equivalentTo"} xref: GARD:16085 {source="MONDO:GARD"} xref: MEDGEN:909404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337025,10 +337087,10 @@ def: "A congenital myasthenic syndrome characterized by autosomal recessive inhe subset: gard_rare {source="GARD:16086", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS3C" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616323] +synonym: "CMS3C" RELATED ABBREVIATION [MONDO:Lexical] synonym: "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency" EXACT [DOID:0110664] -synonym: "congenital myasthenic syndrome type 3C" EXACT [DOID:0110664, MONDORULE:4] -synonym: "myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616323] +synonym: "congenital myasthenic syndrome type 3C" EXACT [MONDORULE:4] +synonym: "myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical] xref: DOID:0110664 {source="MONDO:equivalentTo"} xref: GARD:16086 {source="MONDO:GARD"} xref: MEDGEN:903088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337051,8 +337113,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CMS4B" EXACT ABBREVIATION [DOID:0110677, MONDO:Lexical, OMIM:616324] synonym: "congenital myasthenic syndrome 4B fast-channel" EXACT [DOID:0110677] -synonym: "congenital myasthenic syndrome type 4B" EXACT [DOID:0110677, MONDORULE:4] -synonym: "myasthenic syndrome, congenital, 4B, FAST-channel" RELATED [MONDO:Lexical, OMIM:616324] +synonym: "congenital myasthenic syndrome type 4B" EXACT [MONDORULE:4] +synonym: "myasthenic syndrome, congenital, 4B, FAST-channel" RELATED [MONDO:Lexical] xref: DOID:0110677 {source="MONDO:equivalentTo"} xref: GARD:16087 {source="MONDO:GARD"} xref: MEDGEN:904424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337076,9 +337138,9 @@ subset: rare synonym: "CMS9" EXACT ABBREVIATION [DOID:0110670, MONDO:Lexical, OMIM:616325] synonym: "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency" EXACT [DOID:0110670] synonym: "congenital myasthenic syndrome caused by mutation in MUSK" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 9" EXACT [DOID:0110670, MONDORULE:1] +synonym: "congenital myasthenic syndrome type 9" EXACT [MONDORULE:1] synonym: "MUSK congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616325] +synonym: "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical] xref: DOID:0110670 {source="MONDO:equivalentTo"} xref: GARD:16088 {source="MONDO:GARD"} xref: MEDGEN:895641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337100,18 +337162,18 @@ def: "Any congenital myasthenic syndrome in which the cause of the disease is a subset: gard_rare {source="GARD:16089", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS Ie" EXACT [DOID:0110675] -synonym: "Cms Ie" RELATED [OMIM:616326] -synonym: "Cms Ie, formerly" RELATED [OMIM:616326] +synonym: "CMS Ie" EXACT ABBREVIATION [DOID:0110675] +synonym: "Cms Ie" RELATED [] +synonym: "Cms Ie, formerly" RELATED [] synonym: "CMS11" EXACT ABBREVIATION [DOID:0110675, MONDO:Lexical, OMIM:616326] synonym: "CMS1E" EXACT ABBREVIATION [DOID:0110675] synonym: "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency" EXACT [DOID:0110675] synonym: "congenital myasthenic syndrome 1e" EXACT [DOID:0110675] synonym: "congenital myasthenic syndrome caused by mutation in RAPSN" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 11" EXACT [DOID:0110675, MONDORULE:2] -synonym: "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616326] -synonym: "myasthenic syndrome, congenital, Ie" RELATED [OMIM:616326] -synonym: "myasthenic syndrome, congenital, Ie, formerly" RELATED [OMIM:616326] +synonym: "congenital myasthenic syndrome type 11" EXACT [MONDORULE:2] +synonym: "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, Ie" RELATED [] +synonym: "myasthenic syndrome, congenital, Ie, formerly" RELATED [] synonym: "RAPSN congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110675 {source="MONDO:equivalentTo"} xref: GARD:16089 {source="MONDO:GARD"} @@ -337137,9 +337199,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "KCNJ11 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11" EXACT [] -synonym: "maturity-onset diabetes of the young, type 13" RELATED [MONDO:Lexical, OMIM:616329] +synonym: "maturity-onset diabetes of the young, type 13" RELATED [MONDO:Lexical] synonym: "MODY type 13" EXACT [DOID:0111110] -synonym: "MODY, type 13" RELATED [OMIM:616329] +synonym: "MODY, type 13" RELATED [] synonym: "MODY13" EXACT ABBREVIATION [DOID:0111110, MONDO:Lexical, OMIM:616329] xref: DOID:0111110 {source="MONDO:equivalentTo"} xref: GARD:16090 {source="MONDO:GARD"} @@ -337160,10 +337222,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CMS18" EXACT ABBREVIATION [DOID:0110683, MONDO:Lexical, OMIM:616330] synonym: "congenital myasthenic syndrome caused by mutation in SNAP25" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 18" EXACT [DOID:0110683, MONDORULE:2] -synonym: "myasthenic syndrome, congenital, 18" RELATED [MONDO:Lexical, OMIM:616330] -synonym: "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia" RELATED [OMIM:616330] -synonym: "myasthenic syndrome, congenital, type 18" EXACT [MONDORULE:2, OMIM:616330] +synonym: "congenital myasthenic syndrome type 18" EXACT [MONDORULE:2] +synonym: "myasthenic syndrome, congenital, 18" RELATED [MONDO:Lexical] +synonym: "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia" RELATED [] +synonym: "myasthenic syndrome, congenital, type 18" EXACT [MONDORULE:2] synonym: "SNAP25 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110683 {source="MONDO:equivalentTo"} xref: GARD:16091 {source="MONDO:GARD"} @@ -337187,11 +337249,11 @@ subset: gard_rare {source="GARD:18548", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant Robinow syndrome caused by mutation in DVL1" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant Robinow syndrome type 2" EXACT [DOID:0060765, MONDORULE:1] +synonym: "autosomal dominant Robinow syndrome type 2" EXACT [MONDORULE:1] synonym: "DRS2" EXACT ABBREVIATION [DOID:0060765, MONDO:Lexical, OMIM:616331] synonym: "DVL1 autosomal dominant Robinow syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Robinow syndrome, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:616331] -synonym: "Robinow syndrome, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:616331] +synonym: "Robinow syndrome, autosomal dominant 2" RELATED [MONDO:Lexical] +synonym: "Robinow syndrome, autosomal dominant type 2" EXACT [MONDORULE:1] xref: DOID:0060765 {source="MONDO:equivalentTo"} xref: GARD:18548 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="DOID:0060765"} @@ -337214,11 +337276,11 @@ def: "Any microcephaly and chorioretinopathy in which the cause of the disease i subset: gard_rare {source="GARD:18482", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCCRP3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616335] +synonym: "MCCRP3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly and chorioretinopathy caused by mutation in TUBGCP4" EXACT [MONDO:design_pattern] -synonym: "microcephaly and chorioretinopathy type 3" EXACT [DOID:0080107, MONDORULE:1] -synonym: "microcephaly and chorioretinopathy, autosomal recessive, 3" RELATED [MONDO:Lexical, OMIM:616335] -synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 3" EXACT [MONDORULE:1, OMIM:616335] +synonym: "microcephaly and chorioretinopathy type 3" EXACT [MONDORULE:1] +synonym: "microcephaly and chorioretinopathy, autosomal recessive, 3" RELATED [MONDO:Lexical] +synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 3" EXACT [MONDORULE:1] synonym: "TUBGCP4 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080107 {source="MONDO:equivalentTo"} xref: GARD:18482 {source="MONDO:GARD"} @@ -337240,12 +337302,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AARS early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DEE29" EXACT ABBREVIATION [OMIM:616339] -synonym: "developmental and epileptic encephalopathy 29" EXACT [OMIM:616339, OMIM:genemap2] +synonym: "DEE29" EXACT ABBREVIATION [DOID:0080451, OMIM:616339] +synonym: "developmental and epileptic encephalopathy 29" EXACT [DOID:0080451, OMIM:616339] synonym: "early infantile epileptic encephalopathy caused by mutation in AARS" EXACT [MONDO:design_pattern] -synonym: "EIEE29" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616339] +synonym: "EIEE29" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 29" EXACT [MONDO:Lexical, OMIM:616339] -synonym: "epileptic encephalopathy, early infantile, type 29" EXACT [MONDORULE:2, OMIM:616339] +synonym: "epileptic encephalopathy, early infantile, type 29" EXACT [MONDORULE:2] xref: DOID:0080451 {source="MONDO:equivalentTo"} xref: GARD:16092 {source="MONDO:GARD"} xref: MEDGEN:908570 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337265,13 +337327,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18141", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 67" NARROW [DOID:0110588] -synonym: "autosomal dominant nonsyndromic deafness 67" NARROW [OMIM:616340] +synonym: "autosomal dominant deafness 67" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 67" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 67" NARROW [DOID:0110588, MONDORULE:2] -synonym: "deafness, autosomal dominant 67" NARROW [MONDO:Lexical, OMIM:616340, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 67" NARROW [MONDORULE:2, OMIM:616340] -synonym: "DFNA67" NARROW ABBREVIATION [DOID:0110588, MONDO:Lexical, OMIM:616340] +synonym: "autosomal dominant nonsyndromic deafness type 67" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 67" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 67" NARROW [MONDORULE:2] +synonym: "DFNA67" NARROW ABBREVIATION [MONDO:Lexical] synonym: "OSBPL2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110588 {source="MONDO:equivalentTo"} xref: GARD:18141 {source="MONDO:GARD"} @@ -337293,12 +337355,12 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16093", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE30" EXACT ABBREVIATION [OMIM:616341] -synonym: "developmental and epileptic encephalopathy 30" EXACT [OMIM:616341, OMIM:genemap2] +synonym: "DEE30" EXACT ABBREVIATION [DOID:0080465, OMIM:616341] +synonym: "developmental and epileptic encephalopathy 30" EXACT [DOID:0080465, OMIM:616341] synonym: "early infantile epileptic encephalopathy caused by mutation in SIK1" EXACT [MONDO:design_pattern] -synonym: "EIEE30" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616341] +synonym: "EIEE30" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 30" EXACT [MONDO:Lexical, OMIM:616341] -synonym: "epileptic encephalopathy, early infantile, type 30" EXACT [MONDORULE:2, OMIM:616341] +synonym: "epileptic encephalopathy, early infantile, type 30" EXACT [MONDORULE:2] synonym: "SIK1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080465 {source="MONDO:equivalentTo"} xref: GARD:16093 {source="MONDO:GARD"} @@ -337321,8 +337383,8 @@ name: lissencephaly 7 with cerebellar hypoplasia subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "LIS7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616342] -synonym: "lissencephaly 7 with cerebellar hypoplasia" EXACT [MONDO:Lexical, OMIM:616342] +synonym: "LIS7" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "lissencephaly 7 with cerebellar hypoplasia" EXACT [DOID:0112231, MONDO:Lexical, OMIM:616342] xref: DOID:0112231 {source="MONDO:equivalentTo"} xref: MEDGEN:895680 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616342 {source="MONDO:equivalentTo"} @@ -337338,11 +337400,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:574918"} subset: orphanet_rare {source="Orphanet:574918"} subset: rare -synonym: "IMD39" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616345] -synonym: "immunodeficiency 39" EXACT [MONDO:Lexical, OMIM:616345] -synonym: "immunodeficiency type 39" EXACT [MONDORULE:2, OMIM:616345] +synonym: "IMD39" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 39" EXACT [DOID:0111969, MONDO:Lexical, OMIM:616345] +synonym: "immunodeficiency type 39" EXACT [MONDORULE:2] synonym: "IRF7 primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "predisposition to severe viral infection due to IRF7 deficiency" EXACT [MONDO:0035547] +synonym: "predisposition to severe viral infection due to IRF7 deficiency" EXACT [MONDO:0035547, Orphanet:574918] synonym: "primary immunodeficiency disease caused by mutation in IRF7" EXACT [MONDO:design_pattern] xref: DOID:0111969 {source="MONDO:equivalentTo"} xref: ICD10CM:D84.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:574918"} @@ -337365,17 +337427,17 @@ def: "Any developmental and epileptic encephalopathy in which the cause of the d subset: gard_rare {source="GARD:16094", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE31" BROAD ABBREVIATION [OMIM:616346] -synonym: "DEE31A" EXACT [OMIM:616346] -synonym: "developmental and epileptic encephalopathy 31" BROAD [OMIM:616346, OMIM:genemap2] +synonym: "DEE31" BROAD ABBREVIATION [] +synonym: "DEE31A" EXACT ABBREVIATION [DOID:0080437, OMIM:616346] +synonym: "developmental and epileptic encephalopathy 31" BROAD [] synonym: "developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT [https://orcid.org/0000-0001-9310-0163] synonym: "DNM1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" EXACT [] synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163] synonym: "early infantile epileptic encephalopathy caused by mutation in DNM1" EXACT [MONDO:design_pattern] -synonym: "EIEE31" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616346] +synonym: "EIEE31" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 31" EXACT [MONDO:Lexical, OMIM:616346] -synonym: "epileptic encephalopathy, early infantile, type 31" EXACT [MONDORULE:2, OMIM:616346] +synonym: "epileptic encephalopathy, early infantile, type 31" EXACT [MONDORULE:2] xref: DOID:0080437 {source="MONDO:equivalentTo"} xref: GARD:16094 {source="MONDO:GARD"} xref: MEDGEN:894942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337396,16 +337458,16 @@ def: "Any autosomal dominant non-syndromic intellectual disability in which the subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant intellectual disability 34" EXACT [DOID:0070064] +synonym: "autosomal dominant intellectual disability 34" EXACT [] synonym: "autosomal dominant mental retardation 34" EXACT DEPRECATED [DOID:0070064] -synonym: "autosomal dominant non-syndromic intellectual disability 34" RELATED [DOID:0070064] +synonym: "autosomal dominant non-syndromic intellectual disability 34" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP" EXACT [MONDO:design_pattern] synonym: "COL4A3BP autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, autosomal dominant 34" EXACT [OMIM:616351, OMIM:genemap2] -synonym: "intellectual disability, autosomal dominant 34" EXACT [MONDO:Lexical, OMIM:616351] -synonym: "intellectual disability, autosomal dominant type 34" EXACT [MONDORULE:2, OMIM:616351] -synonym: "mental retardation, autosomal dominant 34" RELATED DEPRECATED [MONDO:Lexical, OMIM:616351] -synonym: "mental retardation, autosomal dominant type 34" EXACT DEPRECATED [MONDORULE:2, OMIM:616351] +synonym: "intellectual developmental disorder, autosomal dominant 34" EXACT [OMIM:616351] +synonym: "intellectual disability, autosomal dominant 34" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 34" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 34" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 34" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD34" EXACT ABBREVIATION [DOID:0070064, MONDO:Lexical, OMIM:616351] xref: DOID:0070064 {source="MONDO:equivalentTo"} xref: MEDGEN:907277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337425,11 +337487,11 @@ def: "Any dyskeratosis congenita in which the cause of the disease is a mutation subset: gard_rare {source="GARD:16095", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive dyskeratosis congenita 6" RELATED [DOID:0070024] -synonym: "DKCB6" EXACT ABBREVIATION [DOID:0070024, MONDO:Lexical, OMIM:616353] +synonym: "autosomal recessive dyskeratosis congenita 6" RELATED [] +synonym: "DKCB6" EXACT ABBREVIATION [DOID:0070024, MONDO:Lexical, NCIT:C176929, OMIM:616353] synonym: "dyskeratosis congenita caused by mutation in PARN" EXACT [MONDO:design_pattern] -synonym: "dyskeratosis congenita, autosomal recessive 6" EXACT [MONDO:Lexical, OMIM:616353] -synonym: "dyskeratosis congenita, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:616353] +synonym: "dyskeratosis congenita, autosomal recessive 6" EXACT [MONDO:Lexical, NCIT:C176929, OMIM:616353] +synonym: "dyskeratosis congenita, autosomal recessive type 6" EXACT [MONDORULE:1] synonym: "PARN dyskeratosis congenita" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070024 {source="MONDO:equivalentTo"} xref: GARD:16095 {source="MONDO:GARD"} @@ -337456,13 +337518,13 @@ subset: orphanet_rare {source="Orphanet:397709"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive cerebellar ataxia caused by mutation in SNX14" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive spinocerebellar ataxia type 20" EXACT [DOID:0080066, MONDORULE:2, Orphanet:397709] +synonym: "autosomal recessive spinocerebellar ataxia type 20" EXACT [MONDORULE:2, Orphanet:397709] synonym: "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome" EXACT [Orphanet:397709] -synonym: "intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome" RELATED [Orphanet:397709] -synonym: "SCAR20" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616354, Orphanet:397709] +synonym: "intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome" RELATED [] +synonym: "SCAR20" EXACT ABBREVIATION [DOID:0080066, MONDO:Lexical, OMIM:616354, Orphanet:397709] synonym: "SNX14 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spinocerebellar ataxia, autosomal recessive 20" RELATED [MONDO:Lexical, OMIM:616354] -synonym: "spinocerebellar ataxia, autosomal recessive type 20" EXACT [MONDORULE:2, OMIM:616354] +synonym: "spinocerebellar ataxia, autosomal recessive 20" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 20" EXACT [MONDORULE:2] xref: DOID:0080066 {source="MONDO:equivalentTo"} xref: GARD:17636 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:397709", source="Orphanet:397709/attributed", source="Orphanet:397709/ntbt"} @@ -337490,15 +337552,15 @@ subset: ordo_disorder {source="Orphanet:457279"} subset: ordo_malformation_syndrome {source="Orphanet:457279"} subset: orphanet_rare {source="Orphanet:457279"} subset: rare -synonym: "autosomal dominant intellectual disability 35" EXACT [DOID:0070065] +synonym: "autosomal dominant intellectual disability 35" EXACT [] synonym: "autosomal dominant mental retardation 35" EXACT DEPRECATED [DOID:0070065] -synonym: "autosomal dominant non-syndromic intellectual disability 35" RELATED [DOID:0070065] -synonym: "intellectual disability, autosomal dominant 35" RELATED [MONDO:Lexical, OMIM:616355] -synonym: "intellectual disability, autosomal dominant type 35" EXACT [MONDORULE:2, OMIM:616355] +synonym: "autosomal dominant non-syndromic intellectual disability 35" RELATED [] +synonym: "intellectual disability, autosomal dominant 35" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 35" EXACT [MONDORULE:2] synonym: "intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome" EXACT [Orphanet:457279] -synonym: "mental retardation, autosomal dominant 35" RELATED DEPRECATED [MONDO:Lexical, OMIM:616355] -synonym: "mental retardation, autosomal dominant type 35" EXACT DEPRECATED [MONDORULE:2, OMIM:616355] -synonym: "MRD35" EXACT DEPRECATED [DOID:0070065, MONDO:Lexical, OMIM:616355] +synonym: "mental retardation, autosomal dominant 35" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 35" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD35" EXACT DEPRECATED [DOID:0070065, MONDO:Lexical] xref: DOID:0070065 {source="MONDO:equivalentTo"} xref: GARD:17802 {source="MONDO:GARD"} xref: MEDGEN:1830493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337522,15 +337584,15 @@ subset: gard_rare {source="GARD:18142", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant deafness 40" NARROW [DOID:0110566] -synonym: "autosomal dominant nonsyndromic deafness 40" NARROW [OMIM:616357] +synonym: "autosomal dominant deafness 40" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 40" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CRYM" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 40" NARROW [DOID:0110566, MONDORULE:2] +synonym: "autosomal dominant nonsyndromic deafness type 40" NARROW [MONDORULE:2] synonym: "autosomal dominant nonsyndromic hearing loss 40" EXACT CLINGEN_LABEL [] synonym: "CRYM autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal dominant 40" NARROW [MONDO:Lexical, OMIM:616357, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 40" NARROW [MONDORULE:2, OMIM:616357] -synonym: "DFNA40" NARROW ABBREVIATION [DOID:0110566, MONDO:Lexical, OMIM:616357] +synonym: "deafness, autosomal dominant 40" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal dominant type 40" NARROW [MONDORULE:2] +synonym: "DFNA40" NARROW ABBREVIATION [MONDO:Lexical] xref: DOID:0110566 {source="MONDO:equivalentTo"} xref: GARD:18142 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110566"} @@ -337553,9 +337615,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DNAJC13 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary late onset Parkinson disease caused by mutation in DNAJC13" EXACT [MONDO:design_pattern] -synonym: "PARK21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616361] -synonym: "Parkinson disease 21" EXACT [MONDO:Lexical, OMIM:616361] -synonym: "Parkinson disease type 21" EXACT [MONDORULE:2, OMIM:616361] +synonym: "PARK21" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Parkinson disease 21" EXACT [DOID:0111251, MONDO:Lexical, OMIM:616361] +synonym: "Parkinson disease type 21" EXACT [MONDORULE:2] xref: DOID:0111251 {source="MONDO:equivalentTo"} xref: GARD:18480 {source="MONDO:GARD"} xref: MEDGEN:903105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337578,15 +337640,15 @@ subset: ordo_disorder {source="Orphanet:457284"} subset: ordo_malformation_syndrome {source="Orphanet:457284"} subset: orphanet_rare {source="Orphanet:457284"} subset: rare -synonym: "autosomal dominant intellectual disability 36" EXACT [DOID:0070066] +synonym: "autosomal dominant intellectual disability 36" EXACT [] synonym: "autosomal dominant mental retardation 36" EXACT DEPRECATED [DOID:0070066] -synonym: "autosomal dominant non-syndromic intellectual disability 36" RELATED [DOID:0070066] -synonym: "intellectual disability, autosomal dominant 36" RELATED [MONDO:Lexical, OMIM:616362] -synonym: "intellectual disability, autosomal dominant type 36" EXACT [MONDORULE:2, OMIM:616362] -synonym: "mental retardation, autosomal dominant 36" RELATED DEPRECATED [MONDO:Lexical, OMIM:616362] -synonym: "mental retardation, autosomal dominant type 36" EXACT DEPRECATED [MONDORULE:2, OMIM:616362] +synonym: "autosomal dominant non-syndromic intellectual disability 36" RELATED [] +synonym: "intellectual disability, autosomal dominant 36" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 36" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 36" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 36" EXACT DEPRECATED [MONDORULE:2] synonym: "microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:457284] -synonym: "MRD36" EXACT DEPRECATED [DOID:0070066, MONDO:Lexical, OMIM:616362] +synonym: "MRD36" EXACT DEPRECATED [DOID:0070066, MONDO:Lexical] xref: DOID:0070066 {source="MONDO:equivalentTo"} xref: GARD:17803 {source="MONDO:GARD"} xref: MEDGEN:899880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337613,17 +337675,17 @@ subset: ordo_disorder {source="Orphanet:468678"} subset: orphanet_rare {source="Orphanet:468678"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 37" EXACT [DOID:0070067] +synonym: "autosomal dominant intellectual disability 37" EXACT [] synonym: "autosomal dominant mental retardation 37" EXACT DEPRECATED [DOID:0070067] -synonym: "intellectual disability, autosomal dominant 37" RELATED [MONDO:Lexical, OMIM:616364] -synonym: "intellectual disability, autosomal dominant type 37" EXACT [MONDORULE:2, OMIM:616364] -synonym: "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" EXACT CLINGEN_LABEL [] -synonym: "mental retardation, autosomal dominant 37" RELATED DEPRECATED [MONDO:Lexical, OMIM:616364] -synonym: "mental retardation, autosomal dominant type 37" EXACT DEPRECATED [MONDORULE:2, OMIM:616364] -synonym: "MRD37" EXACT ABBREVIATION [DOID:0070067, MONDO:Lexical, OMIM:616364] -synonym: "WHITE-Sutton syndrome" RELATED [OMIM:616364] -synonym: "White-Sutton syndrome" RELATED [DOID:0070067, OMIM:616364] -synonym: "WHSUS" EXACT ABBREVIATION [DOID:0070067] +synonym: "intellectual disability, autosomal dominant 37" RELATED [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 37" EXACT [MONDORULE:2] +synonym: "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" EXACT CLINGEN_LABEL [Orphanet:468678] +synonym: "mental retardation, autosomal dominant 37" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 37" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD37" EXACT ABBREVIATION [DOID:0070067, MONDO:Lexical] +synonym: "WHITE-Sutton syndrome" RELATED [] +synonym: "White-Sutton syndrome" RELATED [] +synonym: "WHSUS" EXACT ABBREVIATION [DOID:0070067, OMIM:616364] xref: DOID:0070067 {source="MONDO:equivalentTo"} xref: GARD:13774 {source="MONDO:GARD"} xref: MEDGEN:897984 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337647,12 +337709,12 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16096", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE32" EXACT ABBREVIATION [] -synonym: "developmental and epileptic encephalopathy 32" EXACT [OMIM:616366, OMIM:genemap2] +synonym: "DEE32" EXACT ABBREVIATION [DOID:0080416, OMIM:616366] +synonym: "developmental and epileptic encephalopathy 32" EXACT [DOID:0080416, OMIM:616366] synonym: "early infantile epileptic encephalopathy caused by mutation in KCNA2" EXACT [MONDO:design_pattern] -synonym: "EIEE32" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616366] +synonym: "EIEE32" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 32" EXACT [MONDO:Lexical, OMIM:616366] -synonym: "epileptic encephalopathy, early infantile, type 32" EXACT [MONDORULE:2, OMIM:616366] +synonym: "epileptic encephalopathy, early infantile, type 32" EXACT [MONDORULE:2] synonym: "KCNA2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080416 {source="MONDO:equivalentTo"} xref: GARD:16096 {source="MONDO:GARD"} @@ -337677,7 +337739,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:443995"} subset: orphanet_rare {source="Orphanet:443995"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mandibulofacial dysostosis with alopecia" EXACT [MONDO:Lexical, OMIM:616367] +synonym: "mandibulofacial dysostosis with alopecia" EXACT [DOID:0060365, MONDO:Lexical, OMIM:616367, Orphanet:443995] synonym: "MFDA" EXACT ABBREVIATION [DOID:0060365, MONDO:Lexical, OMIM:616367, Orphanet:443995] xref: DOID:0060365 {source="MONDO:equivalentTo"} xref: GARD:17758 {source="MONDO:GARD"} @@ -337704,9 +337766,9 @@ subset: ordo_disorder {source="Orphanet:444077"} subset: ordo_malformation_syndrome {source="Orphanet:444077"} subset: orphanet_rare {source="Orphanet:444077"} subset: rare -synonym: "CHOPS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616368] +synonym: "CHOPS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "CHOPS syndrome" EXACT [MONDO:Lexical, OMIM:616368, Orphanet:444077] -synonym: "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia" RELATED [OMIM:616368] +synonym: "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia" RELATED [] xref: GARD:12845 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:444077/attributed", source="Orphanet:444077/ntbt", source="Orphanet:444077"} xref: MEDGEN:894554 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337730,7 +337792,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0014610 name: obsolete ciliary dyskinesia, primary, 31 -synonym: "moved to 243605" RELATED [OMIM:616369] +synonym: "moved to 243605" RELATED [] is_obsolete: true replaced_by: MONDO:0009477 @@ -337746,9 +337808,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2" EXACT [MONDO:design_pattern] synonym: "ISCA2 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MMDS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616370] -synonym: "multiple mitochondrial dysfunctions syndrome 4" EXACT [MONDO:Lexical, OMIM:616370] -synonym: "multiple mitochondrial dysfunctions syndrome type 4" EXACT [DOID:0080136, MONDORULE:1, OMIM:616370] +synonym: "MMDS4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "multiple mitochondrial dysfunctions syndrome 4" EXACT [DOID:0080136, MONDO:Lexical, OMIM:616370] +synonym: "multiple mitochondrial dysfunctions syndrome type 4" EXACT [MONDORULE:1, Orphanet:457406] xref: DOID:0080136 {source="MONDO:equivalentTo"} xref: GARD:17809 {source="MONDO:GARD"} xref: MEDGEN:899010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337770,11 +337832,11 @@ subset: gard_rare {source="GARD:16097", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PFBMFT4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616371] +synonym: "PFBMFT4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN" EXACT [MONDO:design_pattern] -synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4" RELATED [OMIM:616371] -synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4" EXACT [MONDO:Lexical, OMIM:616371] -synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4" EXACT [MONDORULE:1, OMIM:616371] +synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4" RELATED [] +synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4" EXACT [MONDO:Lexical] +synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4" EXACT [MONDORULE:1] xref: GARD:16097 {source="MONDO:GARD"} xref: MEDGEN:903928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616371 {source="MONDO:equivalentTo"} @@ -337793,11 +337855,11 @@ def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in whi subset: gard_rare {source="GARD:16098", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PFBMFT3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616373] +synonym: "PFBMFT3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1" EXACT [MONDO:design_pattern] -synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3" RELATED [OMIM:616373] -synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3" EXACT [MONDO:Lexical, OMIM:616373] -synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3" EXACT [MONDORULE:1, OMIM:616373] +synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3" RELATED [] +synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3" EXACT [MONDO:Lexical] +synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3" EXACT [MONDORULE:1] synonym: "RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16098 {source="MONDO:GARD"} xref: MEDGEN:901644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337820,7 +337882,7 @@ subset: gard_rare {source="GARD:16099", source="MONDO:GARD"} subset: rare synonym: "congenital stationary night blindness type 1G" EXACT [DOID:0110714, MONDORULE:4] synonym: "CSNB1G" EXACT ABBREVIATION [DOID:0110714, MONDO:Lexical, OMIM:616389] -synonym: "night blindness, congenital stationary, type 1G" RELATED [MONDO:Lexical, OMIM:616389] +synonym: "night blindness, congenital stationary, type 1G" RELATED [MONDO:Lexical] xref: DOID:0110714 {source="MONDO:equivalentTo"} xref: GARD:16099 {source="MONDO:GARD"} xref: MEDGEN:906532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337842,8 +337904,8 @@ name: trichothiodystrophy 2, photosensitive subset: gard_rare {source="GARD:16100", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "trichothiodystrophy 2, photosensitive" EXACT [MONDO:Lexical, OMIM:616390] -synonym: "TTD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616390] +synonym: "trichothiodystrophy 2, photosensitive" EXACT [MONDO:Lexical, NCIT:C173103, OMIM:616390] +synonym: "TTD2" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111869 {source="MONDO:equivalentTo"} xref: GARD:16100 {source="MONDO:GARD"} xref: MEDGEN:905904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337860,11 +337922,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014616 name: obsolete Skint1-like pseudogene comment: Reason: out of scope. Term to consider: none -synonym: "SKINT1-like pseudogene" RELATED [OMIM:616392] -synonym: "Skint1-like pseudogene" EXACT [MONDO:Lexical, OMIM:616392] -synonym: "Skint1L" RELATED [OMIM:616392] -synonym: "SKINTL" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616392] -synonym: "Skintp" RELATED [OMIM:616392] +synonym: "SKINT1-like pseudogene" RELATED [] +synonym: "Skint1-like pseudogene" EXACT [MONDO:Lexical] +synonym: "Skint1L" RELATED [] +synonym: "SKINTL" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Skintp" RELATED [] xref: OMIM:616392 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4504" xsd:anyURI @@ -337876,15 +337938,15 @@ name: intellectual disability, autosomal dominant 38 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:16469", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant intellectual disability 38" EXACT [DOID:0070068] +synonym: "autosomal dominant intellectual disability 38" EXACT [] synonym: "autosomal dominant mental retardation 38" EXACT DEPRECATED [DOID:0070068] -synonym: "autosomal dominant non-syndromic intellectual disability 38" RELATED [DOID:0070068] +synonym: "autosomal dominant non-syndromic intellectual disability 38" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2" EXACT [MONDO:design_pattern] synonym: "EEF1A2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal dominant 38" EXACT [MONDO:Lexical, OMIM:616393] -synonym: "intellectual disability, autosomal dominant type 38" EXACT [MONDORULE:2, OMIM:616393] -synonym: "mental retardation, autosomal dominant 38" RELATED DEPRECATED [MONDO:Lexical, OMIM:616393] -synonym: "mental retardation, autosomal dominant type 38" EXACT DEPRECATED [MONDORULE:2, OMIM:616393] +synonym: "intellectual disability, autosomal dominant 38" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 38" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 38" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 38" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD38" EXACT ABBREVIATION [DOID:0070068, MONDO:Lexical, OMIM:616393] synonym: "PRELDS" EXACT ABBREVIATION [DOID:0070068] synonym: "psychomotor retardation, epilepsy, and language disability syndrome" EXACT [DOID:0070068, OMIM:616393] @@ -337908,9 +337970,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "IFT172 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 71" EXACT [MONDO:Lexical, OMIM:616394] +synonym: "retinitis pigmentosa 71" EXACT [DOID:0110363, MONDO:Lexical, OMIM:616394] synonym: "retinitis pigmentosa caused by mutation in IFT172" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 71" EXACT [DOID:0110363, MONDORULE:2, OMIM:616394] +synonym: "retinitis pigmentosa type 71" EXACT [MONDORULE:2] synonym: "RP71" EXACT ABBREVIATION [DOID:0110363, MONDO:Lexical, OMIM:616394] xref: DOID:0110363 {source="MONDO:equivalentTo"} xref: GARD:16101 {source="MONDO:GARD"} @@ -337930,9 +337992,9 @@ subset: gard_rare {source="GARD:16102", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "trichothiodystrophy 3, photosensitive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616395] -synonym: "trichothiodystrophy, complementation group A" RELATED [OMIM:616395] -synonym: "TTD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616395] +synonym: "trichothiodystrophy 3, photosensitive" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C173099, OMIM:616395] +synonym: "trichothiodystrophy, complementation group A" RELATED [] +synonym: "TTD3" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111871 {source="MONDO:equivalentTo"} xref: GARD:16102 {source="MONDO:GARD"} xref: MEDGEN:865608 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337953,10 +338015,10 @@ subset: gard_rare {source="GARD:16103", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dystonia 26, myoclonic" RELATED [MONDO:Lexical, OMIM:616398] -synonym: "DYT26" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616398] +synonym: "dystonia 26, myoclonic" RELATED [MONDO:Lexical] +synonym: "DYT26" RELATED ABBREVIATION [MONDO:Lexical] synonym: "KCTD17 myoclonus-dystonia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "myoclonic dystonia type 26" EXACT [DOID:0090036, MONDORULE:2] +synonym: "myoclonic dystonia type 26" EXACT [MONDORULE:2] synonym: "myoclonus-dystonia syndrome caused by mutation in KCTD17" EXACT [MONDO:design_pattern] xref: DOID:0090036 {source="MONDO:equivalentTo"} xref: GARD:16103 {source="MONDO:GARD"} @@ -337976,9 +338038,9 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:16104", source="MONDO:GARD"} subset: rare synonym: "BRGDA9" EXACT ABBREVIATION [DOID:0110226, MONDO:Lexical, OMIM:616399] -synonym: "Brugada syndrome 9" EXACT [MONDO:Lexical, OMIM:616399] +synonym: "Brugada syndrome 9" EXACT [DOID:0110226, MONDO:Lexical, OMIM:616399] synonym: "Brugada syndrome caused by mutation in KCND3" EXACT [MONDO:design_pattern] -synonym: "Brugada syndrome type 9" EXACT [DOID:0110226, MONDORULE:1, OMIM:616399] +synonym: "Brugada syndrome type 9" EXACT [MONDORULE:1] synonym: "KCND3 Brugada syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110226 {source="MONDO:equivalentTo"} xref: GARD:16104 {source="MONDO:GARD"} @@ -338000,9 +338062,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:448264"} subset: orphanet_rare {source="Orphanet:448264"} subset: rare -synonym: "FNEPPK2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616400] -synonym: "palmoplantar keratoderma, nonepidermolytic, focal 2" RELATED [MONDO:Lexical, OMIM:616400] -synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 2" EXACT [MONDORULE:1, OMIM:616400] +synonym: "FNEPPK2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "palmoplantar keratoderma, nonepidermolytic, focal 2" RELATED [MONDO:Lexical] +synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 2" EXACT [MONDORULE:1] xref: DOID:0111708 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0111711 {source="MONDO:equivalentTo"} xref: GARD:17781 {source="MONDO:GARD"} @@ -338026,7 +338088,7 @@ subset: gard_rare {source="GARD:16105", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive primary microcephaly caused by mutation in SASS6" EXACT [MONDO:design_pattern] -synonym: "MCPH14" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616402] +synonym: "MCPH14" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 14, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616402] synonym: "SASS6 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070279 {source="MONDO:equivalentTo"} @@ -338044,10 +338106,10 @@ id: MONDO:0014624 name: Brown syndrome def: "Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle." [https://rarediseases.org/rare-diseases/brown-syndrome/] synonym: "Brown syndrome" EXACT [https://rarediseases.org/rare-diseases/brown-syndrome/, MONDO:Lexical, OMIM:616407] -synonym: "Brown tendon sheath syndrome" EXACT [DOID:10235] -synonym: "Brown's (tendon) sheath syndrome" EXACT [DOID:10235, ICD9CM:378.61] -synonym: "Brown's sheath syndrome" EXACT [DOID:10235] -synonym: "Brown's tendon sheath syndrome" EXACT [MONDO:0000982] +synonym: "Brown tendon sheath syndrome" EXACT [] +synonym: "Brown's (tendon) sheath syndrome" EXACT [ICD9CM:378.61] +synonym: "Brown's sheath syndrome" EXACT [] +synonym: "Brown's tendon sheath syndrome" EXACT [DOID:10235, MONDO:0000982] synonym: "BRWNS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616407] synonym: "superior oblique tendon sheath syndrome" EXACT [https://rarediseases.org/rare-diseases/brown-syndrome/] synonym: "tendon sheath adherence, Superior oblique" EXACT [https://rarediseases.org/rare-diseases/brown-syndrome/] @@ -338069,15 +338131,15 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16106", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:111336"} subset: rare -synonym: "DEE33" EXACT ABBREVIATION [OMIM:616366] -synonym: "developmental and epileptic encephalopathy 33" EXACT [OMIM:616409, OMIM:genemap2] +synonym: "DEE33" EXACT ABBREVIATION [DOID:0080463, OMIM:616409] +synonym: "developmental and epileptic encephalopathy 33" EXACT [DOID:0080463, OMIM:616409] synonym: "early infantile epileptic encephalopathy caused by mutation in EEF1A2" EXACT [MONDO:design_pattern] synonym: "EEF1A2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EEF1A2-Related Neurodevelopmental Disorder" EXACT [NORD:111336] synonym: "EEF1A2-related neurodevelopmental disorder" EXACT [NORD:111336] -synonym: "EIEE33" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616409] +synonym: "EIEE33" EXACT ABBREVIATION [MONDO:Lexical] synonym: "epileptic encephalopathy, early infantile, 33" EXACT [MONDO:Lexical, OMIM:616409] -synonym: "epileptic encephalopathy, early infantile, type 33" EXACT [MONDORULE:2, OMIM:616409] +synonym: "epileptic encephalopathy, early infantile, type 33" EXACT [MONDORULE:2] xref: DOID:0080463 {source="MONDO:equivalentTo"} xref: GARD:16106 {source="MONDO:GARD"} xref: MEDGEN:897930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338100,9 +338162,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:458798"} subset: orphanet_rare {source="Orphanet:458798"} subset: rare -synonym: "SCA41" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616410, Orphanet:458798] -synonym: "spinocerebellar ataxia 41" RELATED [MONDO:Lexical, OMIM:616410] -synonym: "spinocerebellar ataxia type 41" EXACT [MONDORULE:2, OMIM:616410] +synonym: "SCA41" EXACT ABBREVIATION [DOID:0111744, MONDO:Lexical, OMIM:616410, Orphanet:458798] +synonym: "spinocerebellar ataxia 41" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 41" EXACT [MONDORULE:2, Orphanet:458798] xref: DOID:0111744 {source="MONDO:equivalentTo"} xref: GARD:17810 {source="MONDO:GARD"} xref: ICD10CM:G11.2 {source="Orphanet:458798", source="Orphanet:458798/attributed", source="Orphanet:458798/ntbt"} @@ -338124,11 +338186,11 @@ subset: ordo_disorder {source="Orphanet:464440"} subset: orphanet_rare {source="Orphanet:464440"} subset: rare synonym: "COL6A3 dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "dystonia 27" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616411] -synonym: "dystonia type 27" EXACT [DOID:0090050, MONDORULE:2, OMIM:616411] +synonym: "dystonia 27" EXACT CLINGEN_LABEL [DOID:0090050, MONDO:Lexical, OMIM:616411] +synonym: "dystonia type 27" EXACT [MONDORULE:2] synonym: "dystonic disorder caused by mutation in COL6A3" EXACT [MONDO:design_pattern] -synonym: "DYT27" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616411] -synonym: "primary dystonia, DYT27 type" RELATED [Orphanet:464440] +synonym: "DYT27" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "primary dystonia, DYT27 type" RELATED [] xref: DOID:0090050 {source="MONDO:equivalentTo"} xref: GARD:17819 {source="MONDO:GARD"} xref: ICD10CM:G24.1 {source="Orphanet:464440", source="Orphanet:464440/attributed", source="Orphanet:464440/ntbt", source="DOID:0090050"} @@ -338152,9 +338214,9 @@ subset: gard_rare {source="GARD:16107", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "basal ganglia calcification, idiopathic, 6" EXACT [MONDO:Lexical, OMIM:616413] -synonym: "basal ganglia calcification, idiopathic, type 6" EXACT [MONDORULE:1, OMIM:616413] +synonym: "basal ganglia calcification, idiopathic, type 6" EXACT [MONDORULE:1] synonym: "bilateral striopallidodentate calcinosis caused by mutation in XPR1" EXACT [MONDO:design_pattern] -synonym: "IBGC6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616413] +synonym: "IBGC6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "XPR1 bilateral striopallidodentate calcinosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16107 {source="MONDO:GARD"} xref: MEDGEN:901404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338178,11 +338240,11 @@ subset: ordo_disorder {source="Orphanet:444092"} subset: orphanet_rare {source="Orphanet:444092"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AILJK" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616414] -synonym: "autoimmune interstitial lung, joint, and kidney disease" RELATED [MONDO:Lexical, OMIM:616414] -synonym: "copa defect" EXACT [Orphanet:444092] -synonym: "COPA Syndrome" EXACT [NORD:1973] -synonym: "copa syndrome" EXACT [Orphanet:444092] +synonym: "AILJK" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "autoimmune interstitial lung, joint, and kidney disease" RELATED [MONDO:Lexical] +synonym: "copa defect" EXACT [] +synonym: "COPA Syndrome" EXACT [DOID:0081242, NORD:1973, Orphanet:444092] +synonym: "copa syndrome" EXACT [DOID:0081242, Orphanet:444092] xref: DOID:0081242 {source="MONDO:equivalentTo"} xref: GARD:17762 {source="MONDO:GARD"} xref: ICD10CM:J84.8 {source="Orphanet:444092", source="Orphanet:444092/attributed", source="Orphanet:444092/ntbt"} @@ -338205,8 +338267,8 @@ subset: gard_rare {source="GARD:17790", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:454840"} subset: rare -synonym: "familial adenomatous polyposis 3" EXACT [MONDO:Lexical, OMIM:616415] -synonym: "familial adenomatous polyposis type 3" EXACT [MONDORULE:1, OMIM:616415] +synonym: "familial adenomatous polyposis 3" EXACT [DOID:0080411, MONDO:Lexical, OMIM:616415] +synonym: "familial adenomatous polyposis type 3" EXACT [MONDORULE:1] synonym: "FAP3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616415] synonym: "NTHL1-related AFAP" EXACT [Orphanet:454840] synonym: "NTHL1-related attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [Orphanet:454840] @@ -338228,9 +338290,9 @@ id: MONDO:0014631 name: hypomagnesemia, seizures, and intellectual disability subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "HOMGSMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:616418] -synonym: "hypomagnesemia, seizures, and intellectual disability" EXACT [MONDO:Lexical, OMIM:616418] -synonym: "hypomagnesemia, seizures, and mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIM:616418] +synonym: "HOMGSMR" RELATED DEPRECATED [MONDO:Lexical] +synonym: "hypomagnesemia, seizures, and intellectual disability" EXACT [MONDO:Lexical] +synonym: "hypomagnesemia, seizures, and mental retardation" EXACT DEPRECATED [MONDO:Lexical, OMIMPS:616418] xref: OMIMPS:616418 {source="MONDO:equivalentTo"} xref: Orphanet:34527 {source="OMIM:616418"} is_a: MONDO:0018101 {source="Orphanet:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia @@ -338245,10 +338307,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HLD10" EXACT ABBREVIATION [DOID:0060788, MONDO:Lexical, OMIM:616420] -synonym: "hypomyelinating leukodystrophy type 10" EXACT [DOID:0060788, MONDORULE:2] +synonym: "hypomyelinating leukodystrophy type 10" EXACT [MONDORULE:2] synonym: "leukodystrophy caused by mutation in PYCR2" EXACT [MONDO:design_pattern] -synonym: "leukodystrophy, hypomyelinating, 10" RELATED [MONDO:Lexical, OMIM:616420] -synonym: "leukodystrophy, hypomyelinating, type 10" EXACT [MONDORULE:2, OMIM:616420] +synonym: "leukodystrophy, hypomyelinating, 10" RELATED [MONDO:Lexical] +synonym: "leukodystrophy, hypomyelinating, type 10" EXACT [MONDORULE:2] synonym: "PYCR2 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060788 {source="MONDO:equivalentTo"} xref: MEDGEN:904191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338268,7 +338330,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:2035"} subset: rare synonym: "MAE" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616421] synonym: "Myoclonic Atonic Epilepsy" EXACT [NORD:2035] -synonym: "myoclonic-atonic epilepsy" EXACT [MONDO:Lexical, OMIM:616421] +synonym: "myoclonic-atonic epilepsy" EXACT [DOID:0060475, MONDO:Lexical, OMIM:616421] xref: DOID:0060475 {source="MONDO:equivalentTo"} xref: GARD:16108 {source="MONDO:GARD"} xref: NORD:2035 {source="MONDO:NORD"} @@ -338284,12 +338346,12 @@ name: 46,XY sex reversal 10 subset: gard_rare {source="GARD:16109", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "46,XY SEX reversal 10" RELATED [OMIM:616425] -synonym: "46,XY sex reversal 10" EXACT [MONDO:Lexical, OMIM:616425] -synonym: "46,XY Sex reversal type 10" EXACT [MONDORULE:2, OMIM:616425] -synonym: "46XY sex reversal 10" EXACT [OMIM:616425, OMIM:genemap2] -synonym: "chromosome 17Q24 deletion syndrome" RELATED [OMIM:616425] -synonym: "SRXY10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616425] +synonym: "46,XY SEX reversal 10" RELATED [] +synonym: "46,XY sex reversal 10" EXACT [DOID:0111775, MONDO:Lexical, OMIM:616425] +synonym: "46,XY Sex reversal type 10" EXACT [MONDORULE:2] +synonym: "46XY sex reversal 10" EXACT [] +synonym: "chromosome 17Q24 deletion syndrome" RELATED [] +synonym: "SRXY10" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111775 {source="MONDO:equivalentTo"} xref: GARD:16109 {source="MONDO:GARD"} xref: MEDGEN:897538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338309,10 +338371,10 @@ def: "Any microphthalmia, isolated, with coloboma in which the cause of the dise subset: gard_rare {source="GARD:16110", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCOPCB10" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616428] -synonym: "microphthalmia, isolated, with coloboma 10" EXACT [MONDO:Lexical, OMIM:616428] +synonym: "MCOPCB10" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "microphthalmia, isolated, with coloboma 10" EXACT [MONDO:Lexical] synonym: "microphthalmia, isolated, with coloboma caused by mutation in RBP4" EXACT [MONDO:design_pattern] -synonym: "microphthalmia, isolated, with coloboma type 10" EXACT [MONDORULE:2, OMIM:616428] +synonym: "microphthalmia, isolated, with coloboma type 10" EXACT [MONDORULE:2] synonym: "RBP4 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16110 {source="MONDO:GARD"} xref: MEDGEN:909133 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338333,10 +338395,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:447954"} subset: orphanet_rare {source="Orphanet:447954"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 25" RELATED [MONDO:Lexical, OMIM:616430] +synonym: "combined oxidative phosphorylation deficiency 25" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MARS2" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 25" EXACT [MONDORULE:2, OMIM:616430] -synonym: "COXPD25" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616430, Orphanet:447954] +synonym: "combined oxidative phosphorylation deficiency type 25" EXACT [MONDORULE:2] +synonym: "COXPD25" EXACT ABBREVIATION [DOID:0111468, MONDO:Lexical, OMIM:616430, Orphanet:447954] synonym: "MARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111468 {source="MONDO:equivalentTo"} xref: GARD:17775 {source="MONDO:GARD"} @@ -338361,9 +338423,9 @@ subset: ordo_disorder {source="Orphanet:447737"} subset: orphanet_rare {source="Orphanet:447737"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD40" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616433] -synonym: "immunodeficiency 40" RELATED [MONDO:Lexical, OMIM:616433] -synonym: "immunodeficiency type 40" EXACT [MONDORULE:2, OMIM:616433] +synonym: "IMD40" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency 40" RELATED [MONDO:Lexical] +synonym: "immunodeficiency type 40" EXACT [MONDORULE:2] xref: DOID:0111951 {source="MONDO:equivalentTo"} xref: GARD:12653 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:447737", source="Orphanet:447737/attributed", source="Orphanet:447737/ntbt"} @@ -338387,9 +338449,9 @@ subset: rare synonym: "Fanconi anaemia caused by mutation in UBE2T" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type T" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in UBE2T" EXACT [MONDO:design_pattern] -synonym: "Fanconi anemia complementation group type T" EXACT [DOID:0111081, MONDORULE:1] -synonym: "Fanconi anemia, complementation group T" RELATED [MONDO:Lexical, OMIM:616435] -synonym: "Fanconi Anemia, complementation group type T" EXACT [MONDORULE:1, OMIM:616435] +synonym: "Fanconi anemia complementation group type T" EXACT [MONDORULE:1] +synonym: "Fanconi anemia, complementation group T" RELATED [MONDO:Lexical] +synonym: "Fanconi Anemia, complementation group type T" EXACT [MONDORULE:1] synonym: "FANCT" EXACT ABBREVIATION [DOID:0111081, MONDO:Lexical, OMIM:616435] synonym: "UBE2T Fanconi anaemia" EXACT OMO:0003005 [] synonym: "UBE2T Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -338411,10 +338473,10 @@ subset: gard_rare {source="GARD:16112", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epilepsy, familial temporal lobe, 7" RELATED [MONDO:Lexical, OMIM:616436] -synonym: "epilepsy, familial temporal lobe, type 7" EXACT [MONDORULE:1, OMIM:616436] +synonym: "epilepsy, familial temporal lobe, 7" RELATED [MONDO:Lexical] +synonym: "epilepsy, familial temporal lobe, type 7" EXACT [MONDORULE:1] synonym: "ETL7" EXACT ABBREVIATION [DOID:0060751, MONDO:Lexical, OMIM:616436] -synonym: "familial temporal lobe epilepsy type 7" EXACT [DOID:0060751, MONDORULE:1] +synonym: "familial temporal lobe epilepsy type 7" EXACT [MONDORULE:1] xref: DOID:0060751 {source="MONDO:equivalentTo"} xref: GARD:16112 {source="MONDO:GARD"} xref: MEDGEN:907609 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338433,8 +338495,8 @@ subset: gard_rare {source="GARD:16113", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 3" EXACT [DOID:0110068, MONDO:Lexical, OMIM:616437] -synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 3" EXACT [MONDORULE:1, OMIM:616437] -synonym: "FTDALS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616437] +synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 3" EXACT [MONDORULE:1] +synonym: "FTDALS3" EXACT ABBREVIATION [DOID:0110068, MONDO:Lexical, OMIM:616437] xref: DOID:0110068 {source="MONDO:equivalentTo"} xref: GARD:16113 {source="MONDO:GARD"} xref: MEDGEN:897127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338462,8 +338524,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 4" EXACT [DOID:0110069, MONDO:Lexical, OMIM:616439] -synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 4" EXACT [MONDORULE:1, OMIM:616439] -synonym: "FTDALS4" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616439] +synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 4" EXACT [MONDORULE:1] +synonym: "FTDALS4" EXACT ABBREVIATION [DOID:0110069, MONDO:Lexical, OMIM:616439] xref: DOID:0110069 {source="MONDO:equivalentTo"} xref: GARD:18398 {source="MONDO:GARD"} xref: MEDGEN:902979 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338483,9 +338545,9 @@ def: "Any chronic mucocutaneous candidiasis in which the cause of the disease is subset: gard_rare {source="GARD:16114", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CANDF9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616445] +synonym: "CANDF9" RELATED ABBREVIATION [MONDO:Lexical] synonym: "candidiasis, familial, 9" EXACT [MONDO:Lexical, OMIM:616445] -synonym: "candidiasis, familial, type 9" EXACT [MONDORULE:1, OMIM:616445] +synonym: "candidiasis, familial, type 9" EXACT [MONDORULE:1] synonym: "chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC" EXACT [] synonym: "IL17RC chronic mucocutaneous candidiasis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: GARD:16114 {source="MONDO:GARD"} @@ -338507,9 +338569,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:464738"} subset: orphanet_rare {source="Orphanet:464738"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Basel-Vanagait-Smirin-Yosef syndrome" EXACT [OMIM:616449, OMIM:genemap2] -synonym: "BASEL-Vanagaite-SMIRIN-YOSEF syndrome" RELATED [MONDO:Lexical, OMIM:616449] -synonym: "BVSYS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616449] +synonym: "Basel-Vanagait-Smirin-Yosef syndrome" EXACT [] +synonym: "BASEL-Vanagaite-SMIRIN-YOSEF syndrome" RELATED [MONDO:Lexical] +synonym: "BVSYS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:17821 {source="MONDO:GARD"} xref: MEDGEN:897292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616449 {source="Orphanet:464738/e", source="MONDO:equivalentTo", source="Orphanet:464738"} @@ -338534,11 +338596,11 @@ subset: orphanet_rare {source="Orphanet:468661"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 74" EXACT [DOID:0110819] -synonym: "autosomal recessive spastic paraplegia type 74" RELATED [Orphanet:468661] +synonym: "autosomal recessive spastic paraplegia type 74" RELATED [] synonym: "hereditary spastic paraplegia caused by mutation in IBA57" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 74" EXACT [DOID:0110819, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 74" EXACT [MONDORULE:2] synonym: "IBA57 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spastic paraplegia 74, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616451] +synonym: "spastic paraplegia 74, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG74" EXACT ABBREVIATION [DOID:0110819, MONDO:Lexical, OMIM:616451, Orphanet:468661] xref: DOID:0110819 {source="MONDO:equivalentTo"} xref: GARD:17842 {source="MONDO:GARD"} @@ -338565,8 +338627,8 @@ subset: orphanet_rare {source="Orphanet:464336"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "B-cell expansion with NF-kB and T-cell anergy disease" EXACT [GARD:0013339, Orphanet:464336] -synonym: "B-cell expansion with NFKB and T-cell anergy" RELATED [GARD:0013339, MONDO:Lexical, OMIM:616452] -synonym: "BENTA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616452] +synonym: "B-cell expansion with NFKB and T-cell anergy" RELATED [GARD:0013339, MONDO:Lexical] +synonym: "BENTA" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:13339 {source="MONDO:GARD"} xref: MEDGEN:1641265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616452 {source="MONDO:equivalentTo", source="Orphanet:464336", source="Orphanet:464336/e"} @@ -338587,8 +338649,8 @@ subset: rare synonym: "ATP6V1B2 Zimmermann-Laband syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Zimmermann-Laband syndrome 2" EXACT [MONDO:Lexical, OMIM:616455] synonym: "Zimmermann-Laband syndrome caused by mutation in ATP6V1B2" EXACT [MONDO:design_pattern] -synonym: "Zimmermann-Laband syndrome type 2" EXACT [MONDORULE:1, OMIM:616455] -synonym: "ZLS2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616455] +synonym: "Zimmermann-Laband syndrome type 2" EXACT [MONDORULE:1] +synonym: "ZLS2" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:16115 {source="MONDO:GARD"} xref: MEDGEN:897567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616455 {source="MONDO:equivalentTo"} @@ -338607,17 +338669,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:448010"} subset: orphanet_rare {source="Orphanet:448010"} subset: rare -synonym: "CAD-CDG" EXACT [Orphanet:448010] -synonym: "carbohydrate deficient glycoprotein syndrome type Iz" EXACT [Orphanet:448010] -synonym: "CDG syndrome type Iz" EXACT [Orphanet:448010] -synonym: "CDG-Iz" EXACT [Orphanet:448010] -synonym: "CDG1Z" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616457, Orphanet:448010] -synonym: "congenital disorder of glycosylation type 1z" EXACT [Orphanet:448010] -synonym: "congenital disorder of glycosylation, type Iz" RELATED [MONDO:Lexical, OMIM:616457] -synonym: "congenital disorder of glycosylation, type Iz, formerly" RELATED [OMIM:616457] -synonym: "DEE50" EXACT ABBREVIATION [OMIM:616457] -synonym: "developmental and epileptic encephalopathy 50" EXACT [OMIM:616457, OMIM:genemap2] -synonym: "EIEE50" EXACT ABBREVIATION [OMIM:616457] +synonym: "CAD-CDG" EXACT ABBREVIATION [Orphanet:448010] +synonym: "carbohydrate deficient glycoprotein syndrome type Iz" EXACT [DOID:0080419, Orphanet:448010] +synonym: "CDG syndrome type Iz" EXACT [DOID:0080419, Orphanet:448010] +synonym: "CDG-Iz" EXACT ABBREVIATION [DOID:0080419, Orphanet:448010] +synonym: "CDG1Z" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:448010] +synonym: "congenital disorder of glycosylation type 1z" EXACT [DOID:0080419, Orphanet:448010] +synonym: "congenital disorder of glycosylation, type Iz" RELATED [MONDO:Lexical] +synonym: "congenital disorder of glycosylation, type Iz, formerly" RELATED [] +synonym: "DEE50" EXACT ABBREVIATION [DOID:0080419, OMIM:616457] +synonym: "developmental and epileptic encephalopathy 50" EXACT [DOID:0080419, OMIM:616457] +synonym: "EIEE50" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 50" EXACT [OMIM:616457] xref: DOID:0080419 {source="MONDO:equivalentTo"} xref: GARD:13621 {source="MONDO:GARD"} @@ -338639,9 +338701,9 @@ name: Al-Raqad syndrome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AL-RAQAD syndrome" RELATED [OMIM:616459] +synonym: "AL-RAQAD syndrome" RELATED [] synonym: "Al-Raqad syndrome" EXACT [MONDO:Lexical, OMIM:616459] -synonym: "ARS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616459] +synonym: "ARS" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:897610 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616459 {source="MONDO:equivalentTo"} xref: UMLS:C4085595 {source="MEDGEN:897610", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338657,12 +338719,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3" EXACT [MONDO:design_pattern] synonym: "EDC3 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, autosomal recessive 50" EXACT [OMIM:616460, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 50" EXACT [MONDO:Lexical, OMIM:616460] -synonym: "intellectual disability, autosomal recessive type 50" EXACT [MONDORULE:2, OMIM:616460] -synonym: "mental retardation, autosomal recessive 50" RELATED DEPRECATED [MONDO:Lexical, OMIM:616460] -synonym: "mental retardation, autosomal recessive type 50" EXACT DEPRECATED [MONDORULE:2, OMIM:616460] -synonym: "MRT50" RELATED DEPRECATED [MONDO:Lexical, OMIM:616460] +synonym: "intellectual developmental disorder, autosomal recessive 50" EXACT [OMIM:616460] +synonym: "intellectual disability, autosomal recessive 50" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal recessive type 50" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 50" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive type 50" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT50" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0081213 {source="MONDO:equivalentTo"} xref: GARD:22570 {source="MONDO:GARD"} xref: MEDGEN:906893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338681,10 +338743,10 @@ def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance o subset: gard_rare {source="GARD:16116", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "epilepsy, familial temporal lobe, 8" RELATED [MONDO:Lexical, OMIM:616461] -synonym: "epilepsy, familial temporal lobe, type 8" EXACT [MONDORULE:1, OMIM:616461] +synonym: "epilepsy, familial temporal lobe, 8" RELATED [MONDO:Lexical] +synonym: "epilepsy, familial temporal lobe, type 8" EXACT [MONDORULE:1] synonym: "ETL8" EXACT ABBREVIATION [DOID:0060754, MONDO:Lexical, OMIM:616461] -synonym: "familial temporal lobe epilepsy type 8" EXACT [DOID:0060754, MONDORULE:1] +synonym: "familial temporal lobe epilepsy type 8" EXACT [MONDORULE:1] xref: DOID:0060754 {source="MONDO:equivalentTo"} xref: GARD:16116 {source="MONDO:GARD"} xref: MEDGEN:909158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338702,8 +338764,8 @@ subset: gard_rare {source="GARD:16117", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "acrofacial dysostosis caused by mutation in POLR1A" EXACT [MONDO:design_pattern] -synonym: "acrofacial dysostosis, Cincinnati type" RELATED [MONDO:Lexical, OMIM:616462] -synonym: "AFDCIN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616462] +synonym: "acrofacial dysostosis, Cincinnati type" RELATED [MONDO:Lexical] +synonym: "AFDCIN" RELATED ABBREVIATION [MONDO:Lexical] synonym: "POLR1A acrofacial dysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060353 {source="MONDO:equivalentTo"} xref: GARD:16117 {source="MONDO:GARD"} @@ -338723,10 +338785,10 @@ def: "Any exudative vitreoretinopathy in which the cause of the disease is a mut subset: gard_rare {source="GARD:16118", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EVR6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616468] -synonym: "exudative vitreoretinopathy 6" EXACT [MONDO:Lexical, OMIM:616468] +synonym: "EVR6" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "exudative vitreoretinopathy 6" EXACT [DOID:0111410, MONDO:Lexical, OMIM:616468] synonym: "exudative vitreoretinopathy caused by mutation in ZNF408" EXACT [MONDO:design_pattern] -synonym: "exudative vitreoretinopathy type 6" EXACT [MONDORULE:1, OMIM:616468] +synonym: "exudative vitreoretinopathy type 6" EXACT [MONDORULE:1] synonym: "ZNF408 exudative vitreoretinopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111410 {source="MONDO:equivalentTo"} xref: GARD:16118 {source="MONDO:GARD"} @@ -338746,9 +338808,9 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:16119", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 72" EXACT [MONDO:Lexical, OMIM:616469] +synonym: "retinitis pigmentosa 72" EXACT [DOID:0110395, MONDO:Lexical, OMIM:616469] synonym: "retinitis pigmentosa caused by mutation in ZNF408" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 72" EXACT [DOID:0110395, MONDORULE:2, OMIM:616469] +synonym: "retinitis pigmentosa type 72" EXACT [MONDORULE:2] synonym: "RP72" EXACT ABBREVIATION [DOID:0110395, MONDO:Lexical, OMIM:616469] synonym: "ZNF408 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110395 {source="MONDO:equivalentTo"} @@ -338770,10 +338832,10 @@ subset: gard_rare {source="GARD:16120", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "COL12A1 Ullrich congenital muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "UCMD2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616470] -synonym: "Ullrich congenital muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:616470] +synonym: "UCMD2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Ullrich congenital muscular dystrophy 2" EXACT [DOID:0060948, MONDO:Lexical, OMIM:616470] synonym: "Ullrich congenital muscular dystrophy caused by mutation in COL12A1" EXACT [MONDO:design_pattern] -synonym: "Ullrich congenital muscular dystrophy type 2" EXACT [MONDORULE:1, OMIM:616470] +synonym: "Ullrich congenital muscular dystrophy type 2" EXACT [MONDORULE:1] xref: DOID:0060948 {source="MONDO:equivalentTo"} xref: GARD:16120 {source="MONDO:GARD"} xref: MEDGEN:899150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338801,11 +338863,11 @@ def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions subset: gard_rare {source="GARD:18450", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PEOB2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616479] +synonym: "PEOB2" RELATED ABBREVIATION [MONDO:Lexical] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" EXACT [MONDO:Lexical, OMIM:616479] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:616479] -synonym: "progressive external ophthalmoplegia, autosomal recessive 2" RELATED [OMIM:616479] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2" EXACT [MONDORULE:1] +synonym: "progressive external ophthalmoplegia, autosomal recessive 2" RELATED [] synonym: "RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111515 {source="MONDO:equivalentTo"} xref: GARD:18450 {source="MONDO:GARD"} @@ -338827,12 +338889,12 @@ subset: gard_rare {source="GARD:16122", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD32" EXACT ABBREVIATION [DOID:0110603, MONDO:Lexical, OMIM:616481] -synonym: "ciliary dyskinesia, primary, 32" RELATED [MONDO:Lexical, OMIM:616481] -synonym: "ciliary dyskinesia, primary, 32, without situs inversus" RELATED [OMIM:616481] -synonym: "ciliary dyskinesia, primary, type 32" EXACT [MONDORULE:2, OMIM:616481] +synonym: "ciliary dyskinesia, primary, 32" RELATED [MONDO:Lexical] +synonym: "ciliary dyskinesia, primary, 32, without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 32" EXACT [MONDORULE:2] synonym: "primary ciliary dyskinesia 32 without situs inversus" EXACT [DOID:0110603] synonym: "primary ciliary dyskinesia caused by mutation in RSPH3" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 32" EXACT [DOID:0110603, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 32" EXACT [MONDORULE:2] synonym: "RSPH3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110603 {source="MONDO:equivalentTo"} xref: GARD:16122 {source="MONDO:GARD"} @@ -338857,8 +338919,8 @@ subset: ordo_disorder {source="Orphanet:85165"} subset: orphanet_rare {source="Orphanet:85165"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "achondroplasia, severe, with developmental delay and acanthosis nigricans" RELATED [MONDO:Lexical, OMIM:616482] -synonym: "SADDAN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616482, Orphanet:85165] +synonym: "achondroplasia, severe, with developmental delay and acanthosis nigricans" RELATED [MONDO:Lexical] +synonym: "SADDAN" EXACT ABBREVIATION [DOID:0111158, MONDO:Lexical, OMIM:616482, Orphanet:85165] synonym: "SADDAN dysplasia" EXACT [DOID:0111158, OMIM:616482] synonym: "severe achondroplasia with developmental delay and acanthosis nigricans" EXACT [DOID:0111158] xref: DOID:0111158 {source="MONDO:equivalentTo"} @@ -338893,8 +338955,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ILFS2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616483] synonym: "infantile liver failure caused by mutation in NBAS" EXACT [MONDO:design_pattern] -synonym: "infantile liver failure syndrome 2" EXACT [MONDO:Lexical, OMIM:616483] -synonym: "infantile liver failure syndrome type 2" EXACT [MONDORULE:1, OMIM:616483] +synonym: "infantile liver failure syndrome 2" EXACT [MONDO:Lexical, NCIT:C158135, OMIM:616483] +synonym: "infantile liver failure syndrome type 2" EXACT [MONDORULE:1] synonym: "NBAS infantile liver failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:13113 {source="MONDO:GARD"} xref: MEDGEN:815981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338912,9 +338974,9 @@ name: microcephaly 15, primary, autosomal recessive subset: gard_rare {source="GARD:16123", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH15" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616486] +synonym: "MCPH15" RELATED ABBREVIATION [MONDO:Lexical] synonym: "microcephaly 15, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616486] -synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities" EXACT [OMIM:616486, OMIM:genemap2] +synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities" EXACT [] xref: DOID:0070277 {source="MONDO:equivalentTo"} xref: GARD:16123 {source="MONDO:GARD"} xref: MEDGEN:895496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338932,9 +338994,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EBSND" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616487] +synonym: "EBSND" RELATED ABBREVIATION [MONDO:Lexical] synonym: "epidermolysis bullosa simplex 5D, generalised intermediate, autosomal recessive" EXACT OMO:0003005 [] -synonym: "epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive" EXACT [OMIM:616487, OMIM:genemap2] +synonym: "epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive" EXACT [OMIM:616487] synonym: "epidermolysis bullosa simplex with nail dystrophy" EXACT [MONDO:Lexical, OMIM:616487] xref: MEDGEN:906476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616487 {source="MONDO:equivalentTo"} @@ -338954,13 +339016,13 @@ subset: ordo_disorder {source="Orphanet:478664"} subset: orphanet_rare {source="Orphanet:478664"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CIP-hypohidrosis syndrome" EXACT [Orphanet:478664] -synonym: "hereditary sensory and autonomic neuropathy type 8" EXACT [Orphanet:478664] +synonym: "CIP-hypohidrosis syndrome" EXACT [] +synonym: "hereditary sensory and autonomic neuropathy type 8" EXACT [DOID:0070153, Orphanet:478664] synonym: "hereditary sensory and autonomic neuropathy type VIII" EXACT [DOID:0070153, Orphanet:478664] -synonym: "HSAN 8" RELATED [OMIM:616488] +synonym: "HSAN 8" RELATED [] synonym: "HSAN8" EXACT ABBREVIATION [DOID:0070153, MONDO:Lexical, OMIM:616488, Orphanet:478664] -synonym: "neuropathy, hereditary sensory and autonomic, type 8" RELATED [OMIM:616488] -synonym: "neuropathy, hereditary sensory and autonomic, type VIII" RELATED [MONDO:Lexical, OMIM:616488] +synonym: "neuropathy, hereditary sensory and autonomic, type 8" RELATED [] +synonym: "neuropathy, hereditary sensory and autonomic, type VIII" RELATED [MONDO:Lexical] xref: DOID:0070153 {source="MONDO:equivalentTo"} xref: GARD:17866 {source="MONDO:GARD"} xref: MEDGEN:894363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -338978,7 +339040,7 @@ name: Silver-Russell syndrome 3 subset: gard_rare {source="GARD:18463", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "GRDF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616489] +synonym: "GRDF" RELATED ABBREVIATION [MONDO:Lexical] synonym: "growth restriction, severe, with distinctive facies" EXACT [MONDO:Lexical, OMIM:616489] synonym: "SRS3" EXACT ABBREVIATION [OMIM:616489] xref: GARD:18463 {source="MONDO:GARD"} @@ -338996,9 +339058,9 @@ subset: gard_rare {source="GARD:16124", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS23" EXACT ABBREVIATION [DOID:0110992, MONDO:Lexical, OMIM:616490] -synonym: "Joubert syndrome 23" EXACT [MONDO:Lexical, OMIM:616490] +synonym: "Joubert syndrome 23" EXACT [DOID:0110992, MONDO:Lexical, OMIM:616490] synonym: "Joubert syndrome caused by mutation in KIAA0586" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 23" EXACT [DOID:0110992, MONDORULE:2, OMIM:616490] +synonym: "Joubert syndrome type 23" EXACT [MONDORULE:2] synonym: "KIAA0586 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110992 {source="MONDO:equivalentTo"} xref: GARD:16124 {source="MONDO:GARD"} @@ -339023,12 +339085,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V" EXACT [DOID:0110178] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation" EXACT [Orphanet:447964] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2V" EXACT [DOID:0110178] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2V" EXACT [DOID:0110178, Orphanet:447964] synonym: "Charcot-Marie-Tooth disease caused by mutation in NAGLU" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V" RELATED [OMIM:616491] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2V" RELATED [MONDO:Lexical, OMIM:616491] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2V" RELATED [MONDO:Lexical] synonym: "Charcot-Marie-Tooth neuropathy type 2V" EXACT [DOID:0110178] -synonym: "Charcot-Marie-Tooth neuropathy, type 2V" RELATED [OMIM:616491] +synonym: "Charcot-Marie-Tooth neuropathy, type 2V" RELATED [] synonym: "CMT2V" EXACT ABBREVIATION [DOID:0110178, MONDO:Lexical, OMIM:616491, Orphanet:447964] synonym: "hereditary adult-onset painful axonal polyneuropathy" EXACT [Orphanet:447964] synonym: "NAGLU Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -339054,10 +339116,10 @@ subset: gard_rare {source="GARD:18088", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "HLD11" EXACT ABBREVIATION [DOID:0060792, MONDO:Lexical, OMIM:616494] -synonym: "hypomyelinating leukodystrophy type 11" EXACT [DOID:0060792, MONDORULE:2] +synonym: "hypomyelinating leukodystrophy type 11" EXACT [MONDORULE:2] synonym: "leukodystrophy caused by mutation in POLR1C" EXACT [MONDO:design_pattern] -synonym: "leukodystrophy, hypomyelinating, 11" RELATED [MONDO:Lexical, OMIM:616494] -synonym: "leukodystrophy, hypomyelinating, type 11" EXACT [MONDORULE:2, OMIM:616494] +synonym: "leukodystrophy, hypomyelinating, 11" RELATED [MONDO:Lexical] +synonym: "leukodystrophy, hypomyelinating, type 11" EXACT [MONDORULE:2] synonym: "POLR1C leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060792 {source="MONDO:equivalentTo"} xref: GARD:18088 {source="MONDO:GARD"} @@ -339082,11 +339144,11 @@ subset: gard_rare {source="GARD:18572", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" EXACT [MONDO:Lexical, OMIM:616500] -synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3" EXACT [MONDORULE:1, OMIM:616500] -synonym: "CEMCOX3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616500] +synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3" EXACT [MONDORULE:1] +synonym: "CEMCOX3" RELATED ABBREVIATION [MONDO:Lexical] synonym: "COA5 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COA5" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex IV, deficiency, nuclear type 9" EXACT [OMIM:616500, OMIM:genemap2] +synonym: "mitochondrial complex IV, deficiency, nuclear type 9" EXACT [] xref: DOID:0080359 {source="MONDO:equivalentTo"} xref: GARD:18572 {source="MONDO:GARD"} xref: MEDGEN:903495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339107,11 +339169,11 @@ subset: gard_rare {source="GARD:18573", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" EXACT [MONDO:Lexical, OMIM:616501] -synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4" EXACT [MONDORULE:1, OMIM:616501] -synonym: "CEMCOX4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616501] +synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4" EXACT [MONDORULE:1] +synonym: "CEMCOX4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "COA6 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COA6" EXACT [MONDO:design_pattern] -synonym: "mitochondrial complex IV deficiency, nuclear type 13" EXACT [OMIM:616501, OMIM:genemap2] +synonym: "mitochondrial complex IV deficiency, nuclear type 13" EXACT [] xref: DOID:0080360 {source="MONDO:equivalentTo"} xref: GARD:18573 {source="MONDO:GARD"} xref: MEDGEN:905398 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339131,12 +339193,12 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:16125", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 21" EXACT [MONDO:Lexical, OMIM:616502] +synonym: "cone-rod dystrophy 21" EXACT [DOID:0081447, MONDO:Lexical, OMIM:616502] synonym: "cone-rod dystrophy caused by mutation in DRAM2" EXACT [MONDO:design_pattern] -synonym: "cone-rod dystrophy type 21" EXACT [MONDORULE:2, OMIM:616502] -synonym: "CORD21" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616502] +synonym: "cone-rod dystrophy type 21" EXACT [MONDORULE:2] +synonym: "CORD21" RELATED ABBREVIATION [MONDO:Lexical] synonym: "DRAM2 cone-rod dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinal dystrophy with early macular involvement" RELATED [OMIM:616502] +synonym: "retinal dystrophy with early macular involvement" RELATED [] xref: DOID:0081447 {source="MONDO:equivalentTo"} xref: GARD:16125 {source="MONDO:GARD"} xref: MEDGEN:891534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339155,10 +339217,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADGRG6 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LCCS9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616503] +synonym: "LCCS9" RELATED ABBREVIATION [MONDO:Lexical] synonym: "lethal congenital contracture syndrome 9" EXACT [MONDO:Lexical, OMIM:616503] synonym: "lethal congenital contracture syndrome caused by mutation in ADGRG6" EXACT [MONDO:design_pattern] -synonym: "lethal congenital contracture syndrome type 9" EXACT [MONDORULE:1, OMIM:616503] +synonym: "lethal congenital contracture syndrome type 9" EXACT [MONDORULE:1] xref: MEDGEN:903881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616503 {source="MONDO:equivalentTo"} xref: UMLS:C4225303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:903881"} @@ -339179,12 +339241,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Charcot-Marie-Tooth disease, type 6B" EXACT [OMIM:616505] -synonym: "CMT6B" EXACT ABBREVIATION [OMIM:616505] +synonym: "CMT6B" EXACT ABBREVIATION [] synonym: "hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46" EXACT [MONDO:design_pattern] synonym: "HMSN 6B" EXACT ABBREVIATION [OMIM:616505] synonym: "HMSN6B" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616505] synonym: "neuropathy, hereditary motor and sensory, type 6B" EXACT CLINGEN_LABEL [] -synonym: "neuropathy, hereditary motor and sensory, type VIB" EXACT [MONDO:Lexical, OMIM:616505] +synonym: "neuropathy, hereditary motor and sensory, type VIB" EXACT [MONDO:Lexical] synonym: "SLC25A46 hereditary motor and sensory neuropathy type 6" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18092 {source="MONDO:GARD"} xref: MEDGEN:895482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339208,8 +339270,8 @@ subset: rare synonym: "OI17" EXACT ABBREVIATION [DOID:0110338, MONDO:Lexical, OMIM:616507] synonym: "osteogenesis imperfecta caused by mutation in SPARC" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XVII" EXACT [DOID:0110338] -synonym: "osteogenesis imperfecta, type 17" RELATED [OMIM:616507] -synonym: "osteogenesis imperfecta, type XVII" RELATED [MONDO:Lexical, OMIM:616507] +synonym: "osteogenesis imperfecta, type 17" RELATED [] +synonym: "osteogenesis imperfecta, type XVII" RELATED [MONDO:Lexical] synonym: "SPARC osteogenesis imperfecta" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110338 {source="MONDO:equivalentTo"} xref: GARD:16126 {source="MONDO:GARD"} @@ -339232,12 +339294,12 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i subset: gard_rare {source="GARD:16127", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 44" EXACT [MONDO:Lexical, OMIM:616509] -synonym: "cataract type 44" EXACT [DOID:0110267, MONDORULE:2, OMIM:616509] +synonym: "cataract 44" EXACT [DOID:0110267, MONDO:Lexical, OMIM:616509] +synonym: "cataract type 44" EXACT [MONDORULE:2] synonym: "CTRCT44" EXACT ABBREVIATION [DOID:0110267, MONDO:Lexical, OMIM:616509] synonym: "early-onset non-syndromic cataract caused by mutation in LSS" EXACT [MONDO:design_pattern] synonym: "LSS early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "total early-onset cataract" BROAD [DOID:0110267] +synonym: "total early-onset cataract" BROAD [] xref: DOID:0110267 {source="MONDO:equivalentTo"} xref: GARD:16127 {source="MONDO:GARD"} xref: ICD10CM:Q12.0 {source="DOID:0110267"} @@ -339261,7 +339323,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "APPL1 maturity-onset diabetes of the young (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "maturity-onset diabetes of the young (disease) caused by mutation in APPL1" EXACT [] -synonym: "maturity-onset diabetes of the young, type 14" RELATED [MONDO:Lexical, OMIM:616511] +synonym: "maturity-onset diabetes of the young, type 14" RELATED [MONDO:Lexical] synonym: "MODY14" EXACT ABBREVIATION [DOID:0111111, MONDO:Lexical, OMIM:616511] xref: DOID:0111111 {source="MONDO:equivalentTo"} xref: GARD:16128 {source="MONDO:GARD"} @@ -339280,13 +339342,13 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22654", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 104" NARROW [DOID:0110465] -synonym: "autosomal recessive nonsyndromic deafness 104" NARROW [OMIM:616515] +synonym: "autosomal recessive deafness 104" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 104" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 104" NARROW [DOID:0110465, MONDORULE:2] -synonym: "deafness, autosomal recessive 104" NARROW [MONDO:Lexical, OMIM:616515, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 104" NARROW [MONDORULE:2, OMIM:616515] -synonym: "DFNB104" NARROW ABBREVIATION [DOID:0110465, MONDO:Lexical, OMIM:616515] +synonym: "autosomal recessive nonsyndromic deafness type 104" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 104" NARROW [MONDO:Lexical] +synonym: "deafness, autosomal recessive type 104" NARROW [MONDORULE:2] +synonym: "DFNB104" NARROW ABBREVIATION [MONDO:Lexical] synonym: "RIPOR2 autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110465 {source="MONDO:equivalentTo"} xref: GARD:22654 {source="MONDO:GARD"} @@ -339309,9 +339371,9 @@ subset: gard_rare {source="GARD:18209", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern] -synonym: "EDMD3" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616516] -synonym: "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive" RELATED [OMIM:616516] -synonym: "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616516] +synonym: "EDMD3" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive" RELATED [] +synonym: "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" EXACT [DOID:0070248, MONDO:Lexical, OMIM:616516] synonym: "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070248 {source="MONDO:equivalentTo"} xref: GARD:18209 {source="MONDO:GARD"} @@ -339333,9 +339395,9 @@ subset: gard_rare {source="GARD:16129", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ACHM7" EXACT ABBREVIATION [DOID:0110009, MONDO:Lexical, OMIM:616517] -synonym: "achromatopsia 7" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616517] +synonym: "achromatopsia 7" EXACT CLINGEN_LABEL [DOID:0110009, MONDO:Lexical, OMIM:616517] synonym: "achromatopsia caused by mutation in ATF6" EXACT [MONDO:design_pattern] -synonym: "achromatopsia type 7" EXACT [DOID:0110009, MONDORULE:1, OMIM:616517] +synonym: "achromatopsia type 7" EXACT [MONDORULE:1] synonym: "ATF6 achromatopsia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110009 {source="MONDO:equivalentTo"} xref: GARD:16129 {source="MONDO:GARD"} @@ -339355,17 +339417,17 @@ id: MONDO:0014678 name: intellectual disability, autosomal dominant 39 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene." [MONDO:patterns/disease_series_by_gene] subset: otar {source="MONDO:OTAR"} -synonym: "autosomal dominant intellectual disability 39" EXACT [DOID:0070069] +synonym: "autosomal dominant intellectual disability 39" EXACT [] synonym: "autosomal dominant mental retardation 39" EXACT DEPRECATED [DOID:0070069] -synonym: "autosomal dominant non-syndromic intellectual disability 39" RELATED [DOID:0070069] +synonym: "autosomal dominant non-syndromic intellectual disability 39" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L" EXACT [MONDO:design_pattern] -synonym: "chromosome 2P25.3 deletion syndrome" RELATED [OMIM:616521] -synonym: "chromosome 2P25.3 Duplication syndrome" RELATED [OMIM:616521] -synonym: "intellectual developmental disorder, autosomal dominant 39" EXACT [OMIM:616521, OMIM:genemap2] -synonym: "intellectual disability, autosomal dominant 39" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616521] -synonym: "intellectual disability, autosomal dominant type 39" EXACT [MONDORULE:2, OMIM:616521] -synonym: "mental retardation, autosomal dominant 39" RELATED DEPRECATED [MONDO:Lexical, OMIM:616521] -synonym: "mental retardation, autosomal dominant type 39" EXACT DEPRECATED [MONDORULE:2, OMIM:616521] +synonym: "chromosome 2P25.3 deletion syndrome" RELATED [] +synonym: "chromosome 2P25.3 Duplication syndrome" RELATED [] +synonym: "intellectual developmental disorder, autosomal dominant 39" EXACT [OMIM:616521] +synonym: "intellectual disability, autosomal dominant 39" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 39" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 39" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 39" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD39" EXACT ABBREVIATION [DOID:0070069, MONDO:Lexical, OMIM:616521] synonym: "MYT1L autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070069 {source="MONDO:equivalentTo"} @@ -339386,7 +339448,7 @@ name: polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis subset: gard_rare {source="GARD:16130", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PMGYCHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616531] +synonym: "PMGYCHA" RELATED ABBREVIATION [MONDO:Lexical] synonym: "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" EXACT [MONDO:Lexical, OMIM:616531] xref: GARD:16130 {source="MONDO:GARD"} xref: MEDGEN:899982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339403,14 +339465,14 @@ id: MONDO:0014680 name: herpes simplex encephalitis, susceptibility to, 7 def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene." [MONDO:patterns/susceptibility_by_gene] subset: predisposition -synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7" RELATED [OMIM:616532] -synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7" RELATED [OMIM:616532] -synonym: "encephalopathy, acute, infection-induced, susceptibility to, 7" RELATED [OMIM:616532] +synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7" RELATED [] +synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7" RELATED [] +synonym: "encephalopathy, acute, infection-induced, susceptibility to, 7" RELATED [] synonym: "herpes simplex encephalitis caused by mutation in IRF3" EXACT [MONDO:design_pattern] -synonym: "Herpes simplex encephalitis, susceptibility to, 5" RELATED [OMIM:616532] -synonym: "herpes simplex encephalitis, susceptibility to, 7" EXACT [OMIM:616532] -synonym: "Herpes simplex encephalitis, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:616532] -synonym: "IIAE7" RELATED ABBREVIATION [OMIM:616532] +synonym: "Herpes simplex encephalitis, susceptibility to, 5" RELATED [] +synonym: "herpes simplex encephalitis, susceptibility to, 7" EXACT [] +synonym: "Herpes simplex encephalitis, susceptibility to, type 7" EXACT [MONDORULE:1] +synonym: "IIAE7" RELATED ABBREVIATION [] synonym: "IRF3 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:901850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616532 {source="MONDO:equivalentTo"} @@ -339434,10 +339496,10 @@ subset: gard_rare {source="GARD:16132", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FOXE1 thyroid cancer, nonmedullary" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "NMTC4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616534] +synonym: "NMTC4" RELATED ABBREVIATION [MONDO:Lexical] synonym: "thyroid cancer, nonmedullary caused by mutation in FOXE1" EXACT [MONDO:design_pattern] synonym: "thyroid cancer, nonmedullary, 4" EXACT [MONDO:Lexical, OMIM:616534] -synonym: "thyroid cancer, nonmedullary, type 4" EXACT [MONDORULE:1, OMIM:616534] +synonym: "thyroid cancer, nonmedullary, type 4" EXACT [MONDORULE:1] xref: GARD:16132 {source="MONDO:GARD"} xref: MEDGEN:907624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616534 {source="MONDO:equivalentTo"} @@ -339458,10 +339520,10 @@ subset: gard_rare {source="GARD:16133", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "HABP2 thyroid cancer, nonmedullary" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "NMTC5" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616535] +synonym: "NMTC5" RELATED ABBREVIATION [MONDO:Lexical] synonym: "thyroid cancer, nonmedullary caused by mutation in HABP2" EXACT [MONDO:design_pattern] synonym: "thyroid cancer, nonmedullary, 5" EXACT [MONDO:Lexical, OMIM:616535] -synonym: "thyroid cancer, nonmedullary, type 5" EXACT [MONDORULE:1, OMIM:616535] +synonym: "thyroid cancer, nonmedullary, type 5" EXACT [MONDORULE:1] xref: GARD:16133 {source="MONDO:GARD"} xref: MEDGEN:895900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616535 {source="MONDO:equivalentTo"} @@ -339481,9 +339543,9 @@ subset: gard_rare {source="GARD:16134", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDDGA9" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616538] -synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9" RELATED [MONDO:Lexical, OMIM:616538] -synonym: "Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related" RELATED [OMIM:616538] +synonym: "MDDGA9" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9" RELATED [MONDO:Lexical] +synonym: "Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related" RELATED [] xref: DOID:0111232 {source="MONDO:equivalentTo"} xref: GARD:16134 {source="MONDO:GARD"} xref: MEDGEN:902513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339503,10 +339565,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:477684"} subset: orphanet_rare {source="Orphanet:477684"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 26" RELATED [MONDO:Lexical, OMIM:616539] +synonym: "combined oxidative phosphorylation deficiency 26" RELATED [MONDO:Lexical] synonym: "combined oxidative phosphorylation deficiency caused by mutation in TRMT5" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 26" EXACT [MONDORULE:2, OMIM:616539] -synonym: "COXPD26" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616539, Orphanet:477684] +synonym: "combined oxidative phosphorylation deficiency type 26" EXACT [MONDORULE:2] +synonym: "COXPD26" EXACT ABBREVIATION [DOID:0111490, MONDO:Lexical, Orphanet:477684] synonym: "TRMT5 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111490 {source="MONDO:equivalentTo"} xref: GARD:17854 {source="MONDO:GARD"} @@ -339529,14 +339591,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:457265"} subset: orphanet_rare {source="Orphanet:457265"} subset: rare -synonym: "epilepsy, progressive myoclonic, 9" RELATED [MONDO:Lexical, OMIM:616540] -synonym: "epilepsy, progressive myoclonic, type 9" EXACT [MONDORULE:1, OMIM:616540] +synonym: "epilepsy, progressive myoclonic, 9" RELATED [MONDO:Lexical] +synonym: "epilepsy, progressive myoclonic, type 9" EXACT [MONDORULE:1] synonym: "EPM9" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616540, Orphanet:457265] synonym: "LMNB2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PME type 9" EXACT [Orphanet:457265] +synonym: "PME type 9" EXACT [DOID:0111450, Orphanet:457265] synonym: "progressive myoclonic epilepsy caused by mutation in LMNB2" EXACT [MONDO:design_pattern] -synonym: "progressive myoclonic epilepsy due to LMNB2 deficiency" EXACT [Orphanet:457265] -synonym: "progressive myoclonus epilepsy type 9" EXACT [Orphanet:457265] +synonym: "progressive myoclonic epilepsy due to LMNB2 deficiency" EXACT [DOID:0111450, Orphanet:457265] +synonym: "progressive myoclonus epilepsy type 9" EXACT [DOID:0111450, Orphanet:457265] xref: DOID:0111450 {source="MONDO:equivalentTo"} xref: GARD:17801 {source="MONDO:GARD"} xref: ICD10CM:G40.3 {source="Orphanet:457265/attributed", source="Orphanet:457265/ntbt", source="Orphanet:457265"} @@ -339556,7 +339618,7 @@ subset: gard_rare {source="GARD:18483", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "short stature, microcephaly, and endocrine dysfunction" EXACT [MONDO:Lexical, OMIM:616541] -synonym: "SSMED" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616541] +synonym: "SSMED" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:18483 {source="MONDO:GARD"} xref: MEDGEN:895448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616541 {source="MONDO:equivalentTo"} @@ -339578,9 +339640,9 @@ subset: gard_rare {source="GARD:16135", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "HGSNAT retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 73" EXACT [MONDO:Lexical, OMIM:616544] +synonym: "retinitis pigmentosa 73" EXACT [DOID:0110389, MONDO:Lexical, OMIM:616544] synonym: "retinitis pigmentosa caused by mutation in HGSNAT" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 73" EXACT [DOID:0110389, MONDORULE:2, OMIM:616544] +synonym: "retinitis pigmentosa type 73" EXACT [MONDORULE:2] synonym: "RP73" EXACT ABBREVIATION [DOID:0110389, MONDO:Lexical, OMIM:616544] xref: DOID:0110389 {source="MONDO:equivalentTo"} xref: GARD:16135 {source="MONDO:GARD"} @@ -339603,7 +339665,7 @@ subset: gard_rare {source="GARD:18467", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "short-rib thoracic dysplasia 14 with polydactyly" EXACT [MONDO:Lexical, OMIM:616546] +synonym: "short-rib thoracic dysplasia 14 with polydactyly" EXACT [DOID:0110096, MONDO:Lexical, OMIM:616546] synonym: "SRTD14" EXACT ABBREVIATION [DOID:0110096, MONDO:Lexical, OMIM:616546] xref: DOID:0110096 {source="MONDO:equivalentTo"} xref: GARD:18467 {source="MONDO:GARD"} @@ -339626,10 +339688,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:447974"} subset: orphanet_rare {source="Orphanet:447974"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "KFS4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616549] -synonym: "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" EXACT CLINGEN_LABEL [] -synonym: "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:616549] -synonym: "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" RELATED [OMIM:616549] +synonym: "KFS4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" EXACT CLINGEN_LABEL [Orphanet:447974] +synonym: "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism" RELATED [MONDO:Lexical] +synonym: "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" RELATED [] xref: DOID:0080592 {source="MONDO:equivalentTo"} xref: GARD:17778 {source="MONDO:GARD"} xref: ICD10CM:Q76.1 {source="Orphanet:447974", source="Orphanet:447974/attributed", source="Orphanet:447974/ntbt"} @@ -339651,11 +339713,11 @@ def: "A dyskeratosis congenita that has material basis in an autosomal dominant subset: gard_rare {source="GARD:16136", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant dyskeratosis congenita 6" RELATED [DOID:0070023] -synonym: "DKCA6" EXACT ABBREVIATION [DOID:0070023, MONDO:Lexical, OMIM:616553] -synonym: "dyskeratosis congenita, autosomal dominant 6" EXACT [MONDO:Lexical, OMIM:616553] -synonym: "dyskeratosis congenita, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:616553] -synonym: "dyskeratosis congenita, autosomal recessive 7" RELATED [OMIM:616553] +synonym: "autosomal dominant dyskeratosis congenita 6" RELATED [] +synonym: "DKCA6" EXACT ABBREVIATION [DOID:0070023, MONDO:Lexical, NCIT:C176924, OMIM:616553] +synonym: "dyskeratosis congenita, autosomal dominant 6" EXACT [MONDO:Lexical, NCIT:C176924, OMIM:616553] +synonym: "dyskeratosis congenita, autosomal dominant type 6" EXACT [MONDORULE:1] +synonym: "dyskeratosis congenita, autosomal recessive 7" RELATED [] xref: DOID:0070023 {source="MONDO:equivalentTo"} xref: GARD:16136 {source="MONDO:GARD"} xref: MEDGEN:904824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339682,10 +339744,10 @@ def: "Any Noonan syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:16137", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Noonan syndrome 9" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616559] +synonym: "Noonan syndrome 9" EXACT CLINGEN_LABEL [DOID:0060587, MONDO:Lexical, NCIT:C176937, OMIM:616559] synonym: "Noonan syndrome caused by mutation in SOS2" EXACT [MONDO:design_pattern] -synonym: "Noonan syndrome type 9" EXACT [DOID:0060587, MONDORULE:1, OMIM:616559] -synonym: "NS9" EXACT ABBREVIATION [DOID:0060587, MONDO:Lexical, OMIM:616559] +synonym: "Noonan syndrome type 9" EXACT [MONDORULE:1] +synonym: "NS9" EXACT ABBREVIATION [DOID:0060587, MONDO:Lexical, NCIT:C176937, OMIM:616559] synonym: "SOS2 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060587 {source="MONDO:equivalentTo"} xref: GARD:16137 {source="MONDO:GARD"} @@ -339707,9 +339769,9 @@ subset: gard_rare {source="GARD:16138", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BBS2 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 74" EXACT [MONDO:Lexical, OMIM:616562] +synonym: "retinitis pigmentosa 74" EXACT [DOID:0110401, MONDO:Lexical, OMIM:616562] synonym: "retinitis pigmentosa caused by mutation in BBS2" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 74" EXACT [DOID:0110401, MONDORULE:2, OMIM:616562] +synonym: "retinitis pigmentosa type 74" EXACT [MONDORULE:2] synonym: "RP74" EXACT ABBREVIATION [DOID:0110401, MONDO:Lexical, OMIM:616562] xref: DOID:0110401 {source="MONDO:equivalentTo"} xref: GARD:16138 {source="MONDO:GARD"} @@ -339732,10 +339794,10 @@ subset: gard_rare {source="GARD:16139", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "LZTR1 Noonan syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Noonan syndrome 10" EXACT [MONDO:Lexical, OMIM:616564] +synonym: "Noonan syndrome 10" EXACT [DOID:0060588, MONDO:Lexical, NCIT:C176938, OMIM:616564] synonym: "Noonan syndrome caused by mutation in LZTR1" EXACT [MONDO:design_pattern] -synonym: "Noonan syndrome type 10" EXACT [DOID:0060588, MONDORULE:2, OMIM:616564] -synonym: "NS10" EXACT ABBREVIATION [DOID:0060588, MONDO:Lexical, OMIM:616564] +synonym: "Noonan syndrome type 10" EXACT [MONDORULE:2] +synonym: "NS10" EXACT ABBREVIATION [DOID:0060588, MONDO:Lexical, NCIT:C176938, OMIM:616564] xref: DOID:0060588 {source="MONDO:equivalentTo"} xref: GARD:16139 {source="MONDO:GARD"} xref: MEDGEN:902892 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339755,7 +339817,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2" EXACT [MONDO:design_pattern] synonym: "RIPPLY2 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SCDO6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616566] +synonym: "SCDO6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "spondylocostal dysostosis 6" RELATED [GARD:0012807] synonym: "spondylocostal dysostosis 6, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616566] xref: DOID:0112360 {source="MONDO:equivalentTo"} @@ -339786,8 +339848,8 @@ name: cerebrooculofacioskeletal syndrome 3 subset: gard_rare {source="GARD:16140", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cerebrooculofacioskeletal syndrome 3" EXACT [MONDO:Lexical, OMIM:616570] -synonym: "cerebrooculofacioskeletal syndrome type 3" EXACT [MONDORULE:1, OMIM:616570] +synonym: "cerebrooculofacioskeletal syndrome 3" EXACT [DOID:0080913, MONDO:Lexical, OMIM:616570] +synonym: "cerebrooculofacioskeletal syndrome type 3" EXACT [MONDORULE:1] synonym: "COFS3" EXACT ABBREVIATION [OMIM:616570] xref: DOID:0080913 {source="MONDO:equivalentTo"} xref: GARD:16140 {source="MONDO:GARD"} @@ -339810,11 +339872,11 @@ subset: gard_rare {source="GARD:16141", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "common variable immunodeficiency caused by mutation in NFKB1" EXACT [MONDO:design_pattern] -synonym: "CVID12" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616576] -synonym: "immunodeficiency, common variable, 12" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616576] -synonym: "immunodeficiency, common variable, type 12" EXACT [MONDORULE:2, OMIM:616576] +synonym: "CVID12" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "immunodeficiency, common variable, 12" EXACT CLINGEN_LABEL [MONDO:Lexical] +synonym: "immunodeficiency, common variable, type 12" EXACT [MONDORULE:2] synonym: "NFKB1 common variable immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "NFKB1 deficiency" RELATED [OMIM:616576] +synonym: "NFKB1 deficiency" RELATED [] xref: DOID:0081154 {source="MONDO:equivalentTo"} xref: GARD:16141 {source="MONDO:GARD"} xref: MEDGEN:906018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339835,11 +339897,11 @@ subset: ordo_disorder {source="Orphanet:457351"} subset: ordo_malformation_syndrome {source="Orphanet:457351"} subset: orphanet_rare {source="Orphanet:457351"} subset: rare -synonym: "EHLMRS" RELATED DEPRECATED [MONDO:Lexical, OMIM:616577] -synonym: "epilepsy, hearing loss, and intellectual disability syndrome" RELATED [MONDO:Lexical, OMIM:616577] -synonym: "epilepsy, hearing loss, and mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical, OMIM:616577] +synonym: "EHLMRS" RELATED DEPRECATED [MONDO:Lexical] +synonym: "epilepsy, hearing loss, and intellectual disability syndrome" RELATED [MONDO:Lexical] +synonym: "epilepsy, hearing loss, and mental retardation syndrome" RELATED DEPRECATED [MONDO:Lexical] synonym: "microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome" EXACT [Orphanet:457351] -synonym: "neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities" EXACT [OMIM:616577, OMIM:genemap2] +synonym: "neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities" EXACT [OMIM:616577] xref: GARD:17804 {source="MONDO:GARD"} xref: MEDGEN:895574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616577 {source="Orphanet:457351/e", source="MONDO:equivalentTo", source="Orphanet:457351"} @@ -339857,16 +339919,16 @@ name: intellectual disability, autosomal dominant 40 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:13539", source="MONDO:GARD"} subset: rare -synonym: "autosomal dominant intellectual disability 40" EXACT [DOID:0070070] +synonym: "autosomal dominant intellectual disability 40" EXACT [] synonym: "autosomal dominant mental retardation 40" EXACT DEPRECATED [DOID:0070070] -synonym: "autosomal dominant non-syndromic intellectual disability 40" RELATED [DOID:0070070] +synonym: "autosomal dominant non-syndromic intellectual disability 40" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1" EXACT [MONDO:design_pattern] synonym: "CHAMP1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal dominant 40" EXACT [MONDO:Lexical, OMIM:616579] -synonym: "intellectual disability, autosomal dominant type 40" EXACT [MONDORULE:2, OMIM:616579] -synonym: "mental retardation, autosomal dominant 40" RELATED DEPRECATED [MONDO:Lexical, OMIM:616579] -synonym: "mental retardation, autosomal dominant type 40" EXACT DEPRECATED [MONDORULE:2, OMIM:616579] -synonym: "MRD40" EXACT ABBREVIATION [DOID:0070070, MONDO:Lexical, OMIM:616579] +synonym: "intellectual disability, autosomal dominant 40" EXACT [MONDO:Lexical] +synonym: "intellectual disability, autosomal dominant type 40" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 40" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal dominant type 40" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRD40" EXACT ABBREVIATION [DOID:0070070, MONDO:Lexical] xref: DOID:0070070 {source="MONDO:equivalentTo"} xref: GARD:13539 {source="MONDO:GARD"} xref: MEDGEN:1810363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339888,14 +339950,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:2729"} subset: ordo_subtype_of_a_disorder {source="Orphanet:453504"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Au-Kline syndrome" EXACT [OMIM:616580, Orphanet:453504] +synonym: "Au-Kline syndrome" EXACT [OMIM:616580] synonym: "AUKS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616580] synonym: "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability" RELATED [GARD:0004064] synonym: "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation" RELATED DEPRECATED [GARD:0004064] -synonym: "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability" EXACT [OMIM:604916] -synonym: "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation" EXACT DEPRECATED [OMIM:604916] -synonym: "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation" EXACT CLINGEN_LABEL [Orphanet:453504] -synonym: "Okamoto syndrome" EXACT [OMIM:604916] +synonym: "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability" EXACT [] +synonym: "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation" EXACT DEPRECATED [OMIM:616580] +synonym: "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation" EXACT CLINGEN_LABEL [] +synonym: "Okamoto syndrome" EXACT [OMIM:616580] xref: GARD:4064 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2729/attributed", source="Orphanet:2729/ntbt", source="Orphanet:2729"} xref: MEDGEN:900671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -339926,8 +339988,8 @@ subset: orphanet_rare {source="Orphanet:459051"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SED, Stanescu type" EXACT [OMIM:616583, Orphanet:459051] -synonym: "SEDSTN" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616583] -synonym: "spondyloepiphyseal dysplasia, Stanescu type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616583] +synonym: "SEDSTN" EXACT ABBREVIATION [DOID:0112281, MONDO:Lexical, OMIM:616583] +synonym: "spondyloepiphyseal dysplasia, Stanescu type" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:616583, Orphanet:459051] xref: DOID:0112281 {source="MONDO:equivalentTo"} xref: GARD:17812 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:459051", source="Orphanet:459051/attributed", source="Orphanet:459051/ntbt"} @@ -339952,13 +340014,13 @@ subset: ordo_disorder {source="Orphanet:447760"} subset: orphanet_rare {source="Orphanet:447760"} subset: rare synonym: "ALDH18A1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "AR-SPG9B" EXACT [Orphanet:447760] +synonym: "AR-SPG9B" EXACT ABBREVIATION [Orphanet:447760] synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive complex spastic paraplegia type 9B" EXACT [DOID:0110825] synonym: "autosomal recessive spastic paraplegia 9B" EXACT [DOID:0110825] -synonym: "hereditary spastic paraplegia 9B" RELATED [DOID:0110825] -synonym: "hereditary spastic paraplegia type 9B" EXACT [DOID:0110825, MONDORULE:4] -synonym: "spastic paraplegia 9B, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616586] +synonym: "hereditary spastic paraplegia 9B" RELATED [] +synonym: "hereditary spastic paraplegia type 9B" EXACT [MONDORULE:4] +synonym: "spastic paraplegia 9B, autosomal recessive" RELATED [MONDO:Lexical] synonym: "SPG9B" EXACT ABBREVIATION [DOID:0110825, MONDO:Lexical, OMIM:616586] xref: DOID:0110825 {source="MONDO:equivalentTo"} xref: GARD:17770 {source="MONDO:GARD"} @@ -339986,8 +340048,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Adams-Oliver syndrome 6" EXACT [MONDO:Lexical, OMIM:616589] synonym: "Adams-Oliver syndrome caused by mutation in DLL4" EXACT [MONDO:design_pattern] -synonym: "Adams-Oliver syndrome type 6" EXACT [MONDORULE:1, OMIM:616589] -synonym: "AOS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616589] +synonym: "Adams-Oliver syndrome type 6" EXACT [MONDORULE:1] +synonym: "AOS6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "DLL4 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16142 {source="MONDO:GARD"} xref: MEDGEN:908556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -340010,9 +340072,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:477831"} subset: orphanet_rare {source="Orphanet:477831"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "KOGS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616592] +synonym: "KOGS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Kosaki overgrowth syndrome" EXACT [MONDO:Lexical, OMIM:616592, Orphanet:477831] -synonym: "skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration" RELATED [OMIM:616592] +synonym: "skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration" RELATED [] xref: GARD:17860 {source="MONDO:GARD"} xref: MEDGEN:896409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616592 {source="Orphanet:477831", source="MONDO:equivalentTo"} @@ -340032,8 +340094,8 @@ subset: orphanet_rare {source="Orphanet:672985"} subset: rare synonym: "craniosynostosis 6" EXACT [MONDO:Lexical, OMIM:616602] synonym: "craniosynostosis caused by mutation in ZIC1" EXACT [MONDO:design_pattern] -synonym: "craniosynostosis type 6" EXACT [MONDORULE:1, OMIM:616602] -synonym: "CRS6" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616602] +synonym: "craniosynostosis type 6" EXACT [MONDORULE:1] +synonym: "CRS6" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ZIC1 craniosynostosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18048 {source="MONDO:GARD"} xref: MEDGEN:904675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -340054,9 +340116,9 @@ subset: gard_rare {source="GARD:16143", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADCL3" EXACT ABBREVIATION [DOID:0070131, MONDO:Lexical, OMIM:616603] -synonym: "autosomal dominant cutis laxa 3" RELATED [DOID:0070131] +synonym: "autosomal dominant cutis laxa 3" RELATED [] synonym: "cutis laxa, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:616603] -synonym: "cutis laxa, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:616603] +synonym: "cutis laxa, autosomal dominant type 3" EXACT [MONDORULE:1] xref: DOID:0070131 {source="MONDO:equivalentTo"} xref: GARD:16143 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="DOID:0070131"} @@ -340081,9 +340143,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:488280"} subset: orphanet_rare {source="Orphanet:488280"} subset: rare -synonym: "chromosome 14q32 DUPLICATION syndrome, 700-KB" RELATED [OMIM:616604] +synonym: "chromosome 14q32 DUPLICATION syndrome, 700-KB" RELATED [] synonym: "dup(14)q(32)" EXACT [Orphanet:488280] -synonym: "myeloproliferative neoplasms, familial, susceptibility to" RELATED [OMIM:616604] +synonym: "myeloproliferative neoplasms, familial, susceptibility to" RELATED [] synonym: "predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication" EXACT [Orphanet:488280] synonym: "trisomy 14q32" EXACT [Orphanet:488280] xref: GARD:17890 {source="MONDO:GARD"} @@ -340111,9 +340173,9 @@ subset: rare synonym: "Chromosome 14 Ring" EXACT [NORD:939] synonym: "chromosome 14 ring" RELATED [GARD:0006072] synonym: "Ring 14" RELATED [GARD:0006072] -synonym: "RING chromosome 14 syndrome" RELATED [OMIM:616606] -synonym: "ring chromosome 14 syndrome, isolated cases" EXACT [OMIM:616606, OMIM:genemap2] -synonym: "Ring chromosome type 14" EXACT [MONDORULE:2, Orphanet:1440] +synonym: "RING chromosome 14 syndrome" RELATED [] +synonym: "ring chromosome 14 syndrome, isolated cases" EXACT [] +synonym: "Ring chromosome type 14" EXACT [MONDORULE:2] xref: GARD:6072 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:1440", source="Orphanet:1440/attributed", source="Orphanet:1440/ntbt"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -340133,11 +340195,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/6072/ring-ch [Term] id: MONDO:0014709 name: obsolete Heimler syndrome 2 -synonym: "HEIMLER syndrome 2" RELATED [OMIM:616617] -synonym: "Heimler syndrome 2" EXACT [MONDO:Lexical, OMIM:616617] -synonym: "Heimler syndrome type 2" EXACT [MONDORULE:1, OMIM:616617] -synonym: "HMLR2" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616617] -synonym: "peroxisome biogenesis disorder 4C" RELATED [OMIM:616617] +synonym: "HEIMLER syndrome 2" RELATED [] +synonym: "Heimler syndrome 2" EXACT [MONDO:Lexical] +synonym: "Heimler syndrome type 2" EXACT [MONDORULE:1] +synonym: "HMLR2" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "peroxisome biogenesis disorder 4C" RELATED [] xref: DOID:0080624 {source="MONDO:obsoleteEquivalent"} xref: OMIM:616617 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -340155,11 +340217,11 @@ subset: orphanet_rare {source="Orphanet:477857"} subset: predisposition subset: rare synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC" EXACT [] -synonym: "autosomal recessive MSMD due to complete RORgamma receptor defiency" EXACT [Orphanet:477857] -synonym: "autosomal recessive primary immunodeficiency due to RORC mutation" EXACT [Orphanet:477857] -synonym: "IMD42" EXACT ABBREVIATION [OMIM:616622] -synonym: "immunodeficiency 42" EXACT [OMIM:616622] -synonym: "immunodeficiency type 42" EXACT [MONDORULE:2, OMIM:616622] +synonym: "autosomal recessive MSMD due to complete RORgamma receptor defiency" EXACT [DOID:0111940, Orphanet:477857] +synonym: "autosomal recessive primary immunodeficiency due to RORC mutation" EXACT [DOID:0111940, Orphanet:477857] +synonym: "IMD42" EXACT ABBREVIATION [DOID:0111940, OMIM:616622] +synonym: "immunodeficiency 42" EXACT [DOID:0111940, OMIM:616622] +synonym: "immunodeficiency type 42" EXACT [MONDORULE:2] synonym: "RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0111940 {source="MONDO:equivalentTo"} xref: MEDGEN:1799070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -340182,12 +340244,12 @@ subset: rare synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2W" EXACT [DOID:0110162] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation" EXACT [Orphanet:488333] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in HARS" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, axonal type 2W" RELATED [DOID:0110162] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W" RELATED [OMIM:616625] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2W" RELATED [OMIM:616625] +synonym: "Charcot-Marie-Tooth disease, axonal type 2W" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2W" RELATED [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2w" EXACT [OMIM:616625] synonym: "Charcot-Marie-Tooth neuropathy type 2W" EXACT [DOID:0110162] -synonym: "Charcot-Marie-Tooth neuropathy, type 2W" RELATED [OMIM:616625] +synonym: "Charcot-Marie-Tooth neuropathy, type 2W" RELATED [] synonym: "CMT2W" EXACT ABBREVIATION [DOID:0110162, OMIM:616625, Orphanet:488333] synonym: "HARS Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110162 {source="MONDO:equivalentTo"} @@ -340212,7 +340274,7 @@ subset: rare synonym: "Senior-Loken syndrome 9" EXACT [OMIM:616629] synonym: "Senior-Loken syndrome 9; SLSN9" EXACT [] synonym: "Senior-Loken syndrome caused by mutation in TRAF3IP1" EXACT [MONDO:design_pattern] -synonym: "Senior-Loken syndrome type 9" EXACT [MONDORULE:1, OMIM:616629] +synonym: "Senior-Loken syndrome type 9" EXACT [MONDORULE:1] synonym: "SLSN9" EXACT ABBREVIATION [OMIM:616629] synonym: "TRAF3IP1 Senior-Loken syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16145 {source="MONDO:GARD"} @@ -340259,8 +340321,8 @@ subset: orphanet_rare {source="Orphanet:477814"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SCBMS" EXACT ABBREVIATION [OMIM:616632] -synonym: "seizures, cortical blindness, and microcephaly syndrome" RELATED [OMIM:616632] -synonym: "seizures, cortical blindness, microcephaly syndrome" EXACT [OMIM:616632] +synonym: "seizures, cortical blindness, and microcephaly syndrome" RELATED [] +synonym: "seizures, cortical blindness, microcephaly syndrome" EXACT [] xref: GARD:17858 {source="MONDO:GARD"} xref: MEDGEN:1799073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616632 {source="MONDO:equivalentTo", source="Orphanet:477814"} @@ -340281,9 +340343,9 @@ subset: ordo_disorder {source="Orphanet:431166"} subset: orphanet_rare {source="Orphanet:431166"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD44" EXACT ABBREVIATION [OMIM:616636] -synonym: "immunodeficiency 44" EXACT [OMIM:616636] -synonym: "immunodeficiency type 44" EXACT [MONDORULE:2, OMIM:616636] +synonym: "IMD44" EXACT ABBREVIATION [DOID:0111975, OMIM:616636] +synonym: "immunodeficiency 44" EXACT [DOID:0111975, OMIM:616636] +synonym: "immunodeficiency type 44" EXACT [MONDORULE:2] synonym: "primary immunodeficiency with post-MMR vaccine viral infection" EXACT [Orphanet:431166] xref: DOID:0111975 {source="MONDO:equivalentTo"} xref: GARD:17711 {source="MONDO:GARD"} @@ -340310,13 +340372,13 @@ subset: ordo_disorder {source="Orphanet:457485"} subset: ordo_malformation_syndrome {source="Orphanet:457485"} subset: orphanet_rare {source="Orphanet:457485"} subset: rare -synonym: "macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism" RELATED [OMIM:616638] -synonym: "macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism" RELATED DEPRECATED [OMIM:616638] -synonym: "MINDS syndrome" EXACT [Orphanet:457485] -synonym: "SKS" RELATED ABBREVIATION [OMIM:616638] -synonym: "SMITH-Kingsmore syndrome" RELATED [OMIM:616638] -synonym: "Smith-Kingsmore Syndrome" EXACT [NORD:91167] -synonym: "Smith-Kingsmore syndrome" EXACT [OMIM:616638] +synonym: "macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism" RELATED [] +synonym: "macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism" RELATED DEPRECATED [] +synonym: "MINDS syndrome" EXACT [OMIM:616638, Orphanet:457485] +synonym: "SKS" RELATED ABBREVIATION [] +synonym: "SMITH-Kingsmore syndrome" RELATED [] +synonym: "Smith-Kingsmore Syndrome" EXACT [NORD:91167, OMIM:616638, Orphanet:457485] +synonym: "Smith-Kingsmore syndrome" EXACT [OMIM:616638, Orphanet:457485] xref: GARD:13636 {source="MONDO:GARD"} xref: MEDGEN:899689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NORD:91167 {source="MONDO:NORD"} @@ -340340,8 +340402,8 @@ subset: orphanet_rare {source="Orphanet:324290"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "epilepsy, progressive myoclonic, 10" EXACT [OMIM:616640] -synonym: "epilepsy, progressive myoclonic, type 10" EXACT [MONDORULE:2, OMIM:616640] -synonym: "EPM10" EXACT ABBREVIATION [OMIM:616640] +synonym: "epilepsy, progressive myoclonic, type 10" EXACT [MONDORULE:2] +synonym: "EPM10" EXACT ABBREVIATION [DOID:0111445, OMIM:616640] xref: DOID:0111445 {source="MONDO:equivalentTo"} xref: GARD:17482 {source="MONDO:GARD"} xref: ICD10CM:G40.3 {source="Orphanet:324290", source="Orphanet:324290/attributed", source="Orphanet:324290/ntbt"} @@ -340360,13 +340422,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16147", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE34" EXACT ABBREVIATION [OMIM:616645] -synonym: "developmental and epileptic encephalopathy 34" EXACT [OMIM:616645, OMIM:genemap2] +synonym: "DEE34" EXACT ABBREVIATION [DOID:0080460, OMIM:616645] +synonym: "developmental and epileptic encephalopathy 34" EXACT [DOID:0080460, OMIM:616645] synonym: "early infantile epileptic encephalopathy caused by mutation in SLC12A5" EXACT [MONDO:design_pattern] -synonym: "EIEE34" EXACT ABBREVIATION [OMIM:616645] +synonym: "EIEE34" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 34" EXACT [OMIM:616645] synonym: "epileptic encephalopathy, early infantile, 34; EIEE34" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 34" EXACT [MONDORULE:2, OMIM:616645] +synonym: "epileptic encephalopathy, early infantile, type 34" EXACT [MONDORULE:2] synonym: "SLC12A5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080460 {source="MONDO:equivalentTo"} xref: GARD:16147 {source="MONDO:GARD"} @@ -340388,11 +340450,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:457375"} subset: orphanet_rare {source="Orphanet:457375"} subset: rare -synonym: "DEE35" EXACT ABBREVIATION [OMIM:616647] -synonym: "developmental and epileptic encephalopathy 35" EXACT [OMIM:616647, OMIM:genemap2] -synonym: "EIEE35" EXACT ABBREVIATION [OMIM:616647] +synonym: "DEE35" EXACT ABBREVIATION [DOID:0080458, OMIM:616647] +synonym: "developmental and epileptic encephalopathy 35" EXACT [DOID:0080458, OMIM:616647] +synonym: "EIEE35" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 35" EXACT [OMIM:616647] -synonym: "epileptic encephalopathy, early infantile, type 35" EXACT [MONDORULE:2, OMIM:616647] +synonym: "epileptic encephalopathy, early infantile, type 35" EXACT [MONDORULE:2] synonym: "ITPA-related encephalopathy" EXACT [DOID:0080458] xref: DOID:0080458 {source="MONDO:equivalentTo"} xref: GARD:17806 {source="MONDO:GARD"} @@ -340417,10 +340479,10 @@ subset: ordo_disorder {source="Orphanet:1215"} subset: orphanet_rare {source="Orphanet:1215"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DOA+" EXACT [Orphanet:1215] +synonym: "DOA+" EXACT ABBREVIATION [DOID:0111340, Orphanet:1215] synonym: "dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy" RELATED [GARD:0005243] synonym: "optic atrophy - deafness- polyneuropathy - myopathy" RELATED [GARD:0005243] -synonym: "optic atrophy type 8" EXACT [MONDORULE:1, OMIM:616648] +synonym: "optic atrophy type 8" EXACT [MONDORULE:1] synonym: "optic atrophy-deafness-polyneuropathy-myopathy syndrome" EXACT [Orphanet:1215] synonym: "Treft-Sanborn-Carey syndrome" RELATED [GARD:0005243] xref: DOID:0111340 {source="MONDO:equivalentTo"} @@ -340451,7 +340513,7 @@ subset: orphanet_rare {source="Orphanet:353298"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "RFMN" EXACT ABBREVIATION [OMIM:616651] -synonym: "Roifman syndrome" EXACT [OMIM:616651] +synonym: "Roifman syndrome" EXACT [OMIM:616651, Orphanet:353298] synonym: "spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency" RELATED [GARD:0009163] synonym: "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency" EXACT [OMIM:616651] synonym: "spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome" EXACT [Orphanet:353298] @@ -340488,7 +340550,7 @@ synonym: "17p11.2p12 microduplication syndrome" EXACT [Orphanet:477817] synonym: "dup(17)(p11.2p12)" EXACT [Orphanet:477817] synonym: "trisomy 17p11.2-p12" EXACT [Orphanet:477817] synonym: "trisomy 17p11.2p12" EXACT [Orphanet:477817] -synonym: "YUAN-Harel-Lupski syndrome" RELATED [OMIM:616652] +synonym: "YUAN-Harel-Lupski syndrome" RELATED [] synonym: "Yuan-Harel-Lupski syndrome" EXACT [OMIM:616652, Orphanet:477817] synonym: "YUHAL" EXACT ABBREVIATION [OMIM:616652] xref: GARD:17859 {source="MONDO:GARD"} @@ -340513,9 +340575,9 @@ subset: gard_rare {source="GARD:16150", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS24" EXACT ABBREVIATION [DOID:0110993, OMIM:616654] -synonym: "Joubert syndrome 24" EXACT [OMIM:616654] +synonym: "Joubert syndrome 24" EXACT [DOID:0110993, OMIM:616654] synonym: "Joubert syndrome caused by mutation in TCTN2" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 24" EXACT [DOID:0110993, MONDORULE:2, OMIM:616654] +synonym: "Joubert syndrome type 24" EXACT [MONDORULE:2] synonym: "TCTN2 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110993 {source="MONDO:equivalentTo"} xref: GARD:16150 {source="MONDO:GARD"} @@ -340540,9 +340602,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ASCT1 deficiency" EXACT [Orphanet:447997] synonym: "spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" EXACT [Orphanet:447997] -synonym: "spastic tetraplegia, thin corpus callosum, and progressive microcephaly" RELATED [OMIM:616657] -synonym: "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" EXACT CLINGEN_LABEL [] -synonym: "SPATCCM" RELATED ABBREVIATION [OMIM:616657] +synonym: "spastic tetraplegia, thin corpus callosum, and progressive microcephaly" RELATED [] +synonym: "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" EXACT CLINGEN_LABEL [Orphanet:447997] +synonym: "SPATCCM" RELATED ABBREVIATION [] xref: DOID:0070537 {source="MONDO:equivalentTo"} xref: GARD:13425 {source="MONDO:GARD"} xref: ICD10CM:Q02 {source="Orphanet:447997/attributed", source="Orphanet:447997/ntbt", source="Orphanet:447997"} @@ -340568,15 +340630,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ARCMT2X" EXACT ABBREVIATION [Orphanet:466775] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2X" EXACT [DOID:0110176] -synonym: "autosomal recessive Charcot Marie Tooth disease type 2X" RELATED [Orphanet:466775] +synonym: "autosomal recessive Charcot Marie Tooth disease type 2X" RELATED [] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation" EXACT [Orphanet:466775] -synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2X" RELATED [Orphanet:466775] +synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2X" RELATED [] synonym: "Charcot-Marie-Tooth disease caused by mutation in SPG11" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X" RELATED [OMIM:616668] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2X" RELATED [OMIM:616668] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2X" RELATED [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2x" EXACT [OMIM:616668] synonym: "Charcot-Marie-Tooth neuropathy type 2X" EXACT [DOID:0110176] -synonym: "Charcot-Marie-Tooth neuropathy, type 2X" RELATED [OMIM:616668] +synonym: "Charcot-Marie-Tooth neuropathy, type 2X" RELATED [] synonym: "CMT2X" EXACT ABBREVIATION [OMIM:616668, Orphanet:466775] synonym: "SPG11 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110176 {source="MONDO:equivalentTo"} @@ -340595,9 +340657,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014727 name: immunodeficiency 45 -synonym: "IMD45" EXACT ABBREVIATION [OMIM:616669] -synonym: "immunodeficiency 45" EXACT [OMIM:616669] -synonym: "immunodeficiency type 45" EXACT [MONDORULE:2, OMIM:616669] +synonym: "IMD45" EXACT ABBREVIATION [DOID:0111994, OMIM:616669] +synonym: "immunodeficiency 45" EXACT [DOID:0111994, OMIM:616669] +synonym: "immunodeficiency type 45" EXACT [MONDORULE:2] xref: DOID:0111994 {source="MONDO:equivalentTo"} xref: MEDGEN:901044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616669 {source="MONDO:equivalentTo"} @@ -340615,10 +340677,10 @@ subset: ordo_disorder {source="Orphanet:477774"} subset: orphanet_rare {source="Orphanet:477774"} subset: rare synonym: "CARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "combined oxidative phosphorylation deficiency 27" EXACT [OMIM:616672] +synonym: "combined oxidative phosphorylation deficiency 27" EXACT [DOID:0111489, OMIM:616672] synonym: "combined oxidative phosphorylation deficiency caused by mutation in CARS2" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 27" EXACT [MONDORULE:2, OMIM:616672] -synonym: "COXPD27" EXACT ABBREVIATION [OMIM:616672, Orphanet:477774] +synonym: "combined oxidative phosphorylation deficiency type 27" EXACT [MONDORULE:2] +synonym: "COXPD27" EXACT ABBREVIATION [DOID:0111489, OMIM:616672, Orphanet:477774] xref: DOID:0111489 {source="MONDO:equivalentTo"} xref: GARD:17856 {source="MONDO:GARD"} xref: MEDGEN:1799031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -340641,9 +340703,9 @@ subset: ordo_disorder {source="Orphanet:459056"} subset: orphanet_rare {source="Orphanet:459056"} subset: rare synonym: "autosomal recessive spastic paraplegia 75" EXACT [DOID:0110820] -synonym: "autosomal recessive spastic paraplegia type 75" EXACT [DOID:0110820] +synonym: "autosomal recessive spastic paraplegia type 75" EXACT [DOID:0110820, Orphanet:459056] synonym: "hereditary spastic paraplegia caused by mutation in MAG" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 75" EXACT [DOID:0110820, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 75" EXACT [MONDORULE:2] synonym: "MAG hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "spastic paraplegia 75, autosomal recessive" EXACT [OMIM:616680] synonym: "SPG75" EXACT ABBREVIATION [DOID:0110820, OMIM:616680, Orphanet:459056] @@ -340667,7 +340729,7 @@ name: microcephaly 16, primary, autosomal recessive subset: gard_rare {source="GARD:16151", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH16" EXACT ABBREVIATION [OMIM:616681] +synonym: "MCPH16" EXACT ABBREVIATION [DOID:0070289, OMIM:616681] synonym: "microcephaly 16, primary, autosomal recessive" EXACT [OMIM:616681] synonym: "microcephaly 16, primary, autosomal recessive; MCPH16" EXACT [] xref: DOID:0070289 {source="MONDO:equivalentTo"} @@ -340688,7 +340750,7 @@ subset: ordo_disorder {source="Orphanet:466926"} subset: orphanet_rare {source="Orphanet:466926"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "seizures, scoliosis, and macrocephaly syndrome" EXACT [OMIM:616682] +synonym: "seizures, scoliosis, and macrocephaly syndrome" EXACT [] synonym: "SSM syndrome" EXACT [Orphanet:466926] synonym: "SSMS" EXACT ABBREVIATION [OMIM:616682] xref: GARD:17836 {source="MONDO:GARD"} @@ -340713,12 +340775,12 @@ subset: orphanet_rare {source="Orphanet:466934"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HLD12" EXACT ABBREVIATION [DOID:0060796, OMIM:616683] -synonym: "hypomyelinating leukodystrophy type 12" EXACT [DOID:0060796, MONDORULE:2] +synonym: "hypomyelinating leukodystrophy type 12" EXACT [MONDORULE:2] synonym: "leukodystrophy caused by mutation in VPS11" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 12" EXACT [OMIM:616683] -synonym: "leukodystrophy, hypomyelinating, type 12" EXACT [MONDORULE:2, OMIM:616683] +synonym: "leukodystrophy, hypomyelinating, type 12" EXACT [MONDORULE:2] synonym: "VPS11 leukodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "VPS11-related autosomal recessive hypomyelinating leukodystrophy" RELATED [Orphanet:466934] +synonym: "VPS11-related autosomal recessive hypomyelinating leukodystrophy" RELATED [] synonym: "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy" EXACT [Orphanet:466934] xref: DOID:0060796 {source="MONDO:equivalentTo"} xref: GARD:17837 {source="MONDO:GARD"} @@ -340746,14 +340808,14 @@ subset: rare synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K" EXACT [DOID:0110187] synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K" EXACT [DOID:0110187] synonym: "Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease type 4K" EXACT [Orphanet:391351] -synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K" RELATED [OMIM:616684] -synonym: "Charcot-Marie-Tooth disease, type 4K" RELATED [OMIM:616684] -synonym: "Charcot-Marie-Tooth disease, type 4k" EXACT [OMIM:616684] -synonym: "Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K" RELATED [OMIM:616684] +synonym: "Charcot-Marie-Tooth disease type 4K" EXACT [DOID:0110187, Orphanet:391351] +synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 4K" RELATED [] +synonym: "Charcot-Marie-Tooth disease, type 4k" EXACT [] +synonym: "Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K" RELATED [] synonym: "CMT4K" EXACT ABBREVIATION [DOID:0110187, OMIM:616684, Orphanet:391351] synonym: "SURF1 Charcot-Marie-Tooth disease type 4" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SURF1-related Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110187] +synonym: "SURF1-related Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110187, Orphanet:391351] synonym: "SURF1-related CMT4" EXACT [DOID:0110187, Orphanet:391351] synonym: "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" EXACT [DOID:0110187, Orphanet:391351] xref: DOID:0110187 {source="MONDO:equivalentTo"} @@ -340775,12 +340837,12 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014734 name: epilepsy, idiopathic generalized, susceptibility to, 14 subset: predisposition -synonym: "EIG14" EXACT ABBREVIATION [OMIM:616685] +synonym: "EIG14" EXACT ABBREVIATION [DOID:0111315, OMIM:616685] synonym: "epilepsy, idiopathic generalized, susceptibility to, 14" EXACT [OMIM:616685] synonym: "epilepsy, idiopathic generalized, susceptibility to, 14; EIG14" EXACT [] -synonym: "epilepsy, idiopathic generalized, susceptibility to, type 14" EXACT [MONDORULE:2, OMIM:616685] +synonym: "epilepsy, idiopathic generalized, susceptibility to, type 14" EXACT [MONDORULE:2] synonym: "susceptibility to idiopathic generalised epilepsy 14" EXACT OMO:0003005 [] -synonym: "susceptibility to idiopathic generalized epilepsy 14" EXACT [OMIM:616685] +synonym: "susceptibility to idiopathic generalized epilepsy 14" EXACT [] xref: DOID:0111315 {source="MONDO:equivalentTo"} xref: MEDGEN:903934 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616685 {source="MONDO:equivalentTo"} @@ -340804,17 +340866,17 @@ subset: ordo_disorder {source="Orphanet:435387"} subset: orphanet_rare {source="Orphanet:435387"} subset: rare synonym: "autosomal dominant axonal Charcot-Marie-Tooth type 2Y" EXACT [DOID:0110168] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" EXACT [DOID:0110168] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Y" RELATED [Orphanet:435387] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" EXACT [DOID:0110168, Orphanet:435387] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Y" RELATED [] synonym: "Charcot-Marie-Tooth disease type 2 caused by mutation in VCP" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y" RELATED [OMIM:616687] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2Y" RELATED [OMIM:616687] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2Y" RELATED [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2y" EXACT [OMIM:616687] -synonym: "Charcot-Marie-Tooth disease, type 2Y" EXACT [OMIM:616687, OMIM:genemap2] +synonym: "Charcot-Marie-Tooth disease, type 2Y" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2Y" EXACT [DOID:0110168] -synonym: "Charcot-Marie-Tooth neuropathy, type 2Y" RELATED [OMIM:616687] +synonym: "Charcot-Marie-Tooth neuropathy, type 2Y" RELATED [] synonym: "CMT2 due to VCP mutation" EXACT [DOID:0110168, Orphanet:435387] -synonym: "CMT2Y" EXACT ABBREVIATION [DOID:0110168, OMIM:616687] +synonym: "CMT2Y" EXACT ABBREVIATION [DOID:0110168, NCIT:C168974, OMIM:616687, Orphanet:435387] synonym: "VCP Charcot-Marie-Tooth disease type 2" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110168 {source="MONDO:equivalentTo"} xref: GARD:17714 {source="MONDO:GARD"} @@ -340844,13 +340906,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z" EXACT [DOID:0110181] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation" EXACT [Orphanet:466768] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Z" RELATED [Orphanet:466768] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Z" RELATED [] synonym: "Charcot-Marie-Tooth disease caused by mutation in MORC2" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z" RELATED [OMIM:616688] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2Z" RELATED [OMIM:616688] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2Z" RELATED [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2z" EXACT [OMIM:616688] synonym: "Charcot-Marie-Tooth neuropathy type 2Z" EXACT [DOID:0110181] -synonym: "Charcot-Marie-Tooth neuropathy, type 2Z" RELATED [OMIM:616688] +synonym: "Charcot-Marie-Tooth neuropathy, type 2Z" RELATED [] synonym: "CMT2Z" EXACT ABBREVIATION [DOID:0110181, OMIM:616688, Orphanet:466768] synonym: "MORC2 Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110181 {source="MONDO:equivalentTo"} @@ -340873,14 +340935,14 @@ def: "Any dehydrated hereditary stomatocytosis in which the cause of the disease subset: gard_rare {source="GARD:16152", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Dehydrated hereditary stomatocytosis 2" EXACT [OMIM:616689] +synonym: "Dehydrated hereditary stomatocytosis 2" EXACT [DOID:0111577, OMIM:616689] synonym: "dehydrated hereditary stomatocytosis 2; DHS2" EXACT [] synonym: "dehydrated hereditary stomatocytosis caused by mutation in KCNN4" EXACT [MONDO:design_pattern] -synonym: "Dehydrated hereditary stomatocytosis type 2" EXACT [MONDORULE:1, OMIM:616689] -synonym: "Desiccytosis Gardos" RELATED [OMIM:616689] +synonym: "Dehydrated hereditary stomatocytosis type 2" EXACT [MONDORULE:1] +synonym: "Desiccytosis Gardos" RELATED [] synonym: "DHS2" EXACT ABBREVIATION [OMIM:616689] synonym: "KCNN4 dehydrated hereditary stomatocytosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "xerocytosis Gardos" RELATED [OMIM:616689] +synonym: "xerocytosis Gardos" RELATED [] xref: DOID:0111577 {source="MONDO:equivalentTo"} xref: GARD:16152 {source="MONDO:GARD"} xref: MEDGEN:908701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -340898,17 +340960,17 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18143", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 69" NARROW [DOID:0110590] -synonym: "autosomal dominant nonsyndromic deafness 69" NARROW [OMIM:616697] +synonym: "autosomal dominant deafness 69" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 69" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in KITLG" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 69" NARROW [DOID:0110590, MONDORULE:2] -synonym: "DCUA" NARROW ABBREVIATION [DOID:0110590, OMIM:616697] -synonym: "deafness, autosomal dominant 69" NARROW [OMIM:616697] -synonym: "deafness, autosomal dominant 69, unilateral or asymmetric" NARROW [OMIM:616697, OMIM:genemap2] -synonym: "deafness, congenital, unilateral or asymmetric" NARROW [OMIM:616697] -synonym: "DFNA69" NARROW ABBREVIATION [DOID:0110590] +synonym: "autosomal dominant nonsyndromic deafness type 69" NARROW [MONDORULE:2] +synonym: "DCUA" NARROW ABBREVIATION [] +synonym: "deafness, autosomal dominant 69" NARROW [] +synonym: "deafness, autosomal dominant 69, unilateral or asymmetric" NARROW [] +synonym: "deafness, congenital, unilateral or asymmetric" NARROW [] +synonym: "DFNA69" NARROW ABBREVIATION [] synonym: "KITLG autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "unilateral or asymmetric congenital deafness" NARROW [DOID:0110590] +synonym: "unilateral or asymmetric congenital deafness" NARROW [] xref: DOID:0110590 {source="MONDO:equivalentTo"} xref: GARD:18143 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110590"} @@ -340929,13 +340991,13 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di subset: gard_rare {source="GARD:22655", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive deafness 97" NARROW [DOID:0110539] -synonym: "autosomal recessive nonsyndromic deafness 97" NARROW [OMIM:616705] +synonym: "autosomal recessive deafness 97" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness 97" NARROW [] synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MET" NARROW [MONDO:design_pattern] -synonym: "autosomal recessive nonsyndromic deafness type 97" NARROW [DOID:0110539, MONDORULE:2] -synonym: "deafness, autosomal recessive 97" NARROW [OMIM:616705, OMIM:genemap2] -synonym: "deafness, autosomal recessive type 97" NARROW [MONDORULE:2, OMIM:616705] -synonym: "DFNB97" NARROW ABBREVIATION [DOID:0110539, OMIM:616705] +synonym: "autosomal recessive nonsyndromic deafness type 97" NARROW [MONDORULE:2] +synonym: "deafness, autosomal recessive 97" NARROW [] +synonym: "deafness, autosomal recessive type 97" NARROW [MONDORULE:2] +synonym: "DFNB97" NARROW ABBREVIATION [] synonym: "MET autosomal recessive nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110539 {source="MONDO:equivalentTo"} xref: GARD:22655 {source="MONDO:GARD"} @@ -340957,13 +341019,13 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18144", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 68" NARROW [DOID:0110589] -synonym: "autosomal dominant nonsyndromic deafness 68" NARROW [OMIM:616707] +synonym: "autosomal dominant deafness 68" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 68" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in HOMER2" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 68" NARROW [DOID:0110589, MONDORULE:2] -synonym: "deafness, autosomal dominant 68" NARROW [OMIM:616707, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 68" NARROW [MONDORULE:2, OMIM:616707] -synonym: "DFNA68" NARROW ABBREVIATION [DOID:0110589, OMIM:616707] +synonym: "autosomal dominant nonsyndromic deafness type 68" NARROW [MONDORULE:2] +synonym: "deafness, autosomal dominant 68" NARROW [] +synonym: "deafness, autosomal dominant type 68" NARROW [MONDORULE:2] +synonym: "DFNA68" NARROW ABBREVIATION [] synonym: "HOMER2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110589 {source="MONDO:equivalentTo"} xref: GARD:18144 {source="MONDO:GARD"} @@ -340986,11 +341048,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:466950"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 10P12-p11 deletion syndrome" RELATED [OMIM:616708] -synonym: "DESANTO-SHINAWI syndrome" BROAD [OMIM:616708] -synonym: "Desanto-Shinawi syndrome" BROAD [OMIM:616708] -synonym: "DESSH" BROAD ABBREVIATION [OMIM:616708] -synonym: "developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities" RELATED [OMIM:616708] +synonym: "chromosome 10P12-p11 deletion syndrome" RELATED [] +synonym: "DESANTO-SHINAWI syndrome" BROAD [] +synonym: "Desanto-Shinawi syndrome" BROAD [] +synonym: "DESSH" BROAD ABBREVIATION [] +synonym: "developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities" RELATED [] synonym: "developmental delay, behavioural abnormalities, Facial Dysmorphism, and ocular abnormalities" RELATED OMO:0003005 [] synonym: "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" EXACT [Orphanet:466950] xref: GARD:17839 {source="MONDO:GARD"} @@ -341037,10 +341099,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:468717"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "PEX5 rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "RCDP5" EXACT ABBREVIATION [OMIM:616716] -synonym: "Rcdp5" EXACT [DOID:0110854] +synonym: "RCDP5" EXACT ABBREVIATION [DOID:0110854, OMIM:616716] +synonym: "Rcdp5" EXACT [] synonym: "rhizomelic chondrodysplasia punctata caused by mutation in PEX5" EXACT [MONDO:design_pattern] -synonym: "rhizomelic chondrodysplasia punctata type 5" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] +synonym: "rhizomelic chondrodysplasia punctata type 5" EXACT CLINGEN_LABEL [DOID:0110854, https://www.clinicalgenome.org/affiliation/40049/, Orphanet:468717] synonym: "rhizomelic chondrodysplasia punctata, type 5" EXACT [OMIM:616716] xref: DOID:0110854 {source="MONDO:equivalentTo"} xref: GARD:13320 {source="MONDO:GARD"} @@ -341068,14 +341130,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:466794"} subset: orphanet_rare {source="Orphanet:466794"} subset: rare -synonym: "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" EXACT [DOID:0111155] -synonym: "autosomal recessive spinocerebellar ataxia 21" RELATED [DOID:0111155] +synonym: "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" EXACT [DOID:0111155, Orphanet:466794] +synonym: "autosomal recessive spinocerebellar ataxia 21" RELATED [] synonym: "autosomal recessive spinocerebellar ataxia 21 with hepatopathy" EXACT [DOID:0111155] synonym: "autosomal recessive spinocerebellar ataxia type 21" EXACT [Orphanet:466794] synonym: "SCAR21" EXACT ABBREVIATION [DOID:0111155, OMIM:616719, Orphanet:466794] synonym: "spinocerebellar ataxia, autosomal recessive 21" EXACT [OMIM:616719] -synonym: "spinocerebellar ataxia, autosomal recessive 21, with hepatopathy" RELATED [OMIM:616719] -synonym: "spinocerebellar ataxia, autosomal recessive type 21" EXACT [MONDORULE:2, OMIM:616719] +synonym: "spinocerebellar ataxia, autosomal recessive 21, with hepatopathy" RELATED [] +synonym: "spinocerebellar ataxia, autosomal recessive type 21" EXACT [MONDORULE:2] xref: DOID:0111155 {source="MONDO:equivalentTo"} xref: GARD:17833 {source="MONDO:GARD"} xref: MEDGEN:1800507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -341100,9 +341162,9 @@ subset: rare synonym: "CMS19" EXACT ABBREVIATION [DOID:0110673, OMIM:616720] synonym: "COL13A1 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "congenital myasthenic syndrome caused by mutation in COL13A1" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 19" EXACT [DOID:0110673, MONDORULE:2] +synonym: "congenital myasthenic syndrome type 19" EXACT [MONDORULE:2] synonym: "myasthenic syndrome, congenital, 19" EXACT [OMIM:616720] -synonym: "myasthenic syndrome, congenital, type 19" EXACT [MONDORULE:2, OMIM:616720] +synonym: "myasthenic syndrome, congenital, type 19" EXACT [MONDORULE:2] xref: DOID:0110673 {source="MONDO:equivalentTo"} xref: GARD:16153 {source="MONDO:GARD"} xref: MEDGEN:897962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -341123,13 +341185,13 @@ subset: ordo_disorder {source="Orphanet:468699"} subset: orphanet_rare {source="Orphanet:468699"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carbohydrate deficient glycoprotein syndrome type IIn" EXACT [Orphanet:468699] -synonym: "CDG IIn" RELATED [OMIM:616721] -synonym: "CDG syndrome type IIn" EXACT [Orphanet:468699] +synonym: "carbohydrate deficient glycoprotein syndrome type IIn" EXACT [DOID:0070266, Orphanet:468699] +synonym: "CDG IIn" RELATED [] +synonym: "CDG syndrome type IIn" EXACT [DOID:0070266, Orphanet:468699] synonym: "CDG-IIn" EXACT [Orphanet:468699] -synonym: "CDG2N" EXACT ABBREVIATION [OMIM:616721, Orphanet:468699] -synonym: "congenital disorder of glycosylation type 2n" EXACT [Orphanet:468699] -synonym: "congenital disorder of glycosylation type IIn" EXACT [Orphanet:468699] +synonym: "CDG2N" EXACT ABBREVIATION [DOID:0070266, OMIM:616721, Orphanet:468699] +synonym: "congenital disorder of glycosylation type 2n" EXACT [DOID:0070266, Orphanet:468699] +synonym: "congenital disorder of glycosylation type IIn" EXACT [DOID:0070266, Orphanet:468699] synonym: "congenital disorder of glycosylation, type IIn" EXACT [OMIM:616721] synonym: "SLC39A8 deficiency" EXACT [Orphanet:468699] xref: DOID:0070266 {source="MONDO:equivalentTo"} @@ -341155,9 +341217,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:488197"} subset: orphanet_rare {source="Orphanet:488197"} subset: rare -synonym: "RDICC" RELATED ABBREVIATION [OMIM:616722] -synonym: "retinal dystrophy and iris coloboma with or without cataract" EXACT [OMIM:616722, OMIM:genemap2] -synonym: "retinal dystrophy and iris coloboma with or without congenital cataract" RELATED [OMIM:616722] +synonym: "RDICC" RELATED ABBREVIATION [] +synonym: "retinal dystrophy and iris coloboma with or without cataract" EXACT [OMIM:616722] +synonym: "retinal dystrophy and iris coloboma with or without congenital cataract" RELATED [] xref: GARD:17888 {source="MONDO:GARD"} xref: MEDGEN:903733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616722 {source="MONDO:equivalentTo", source="Orphanet:488197"} @@ -341184,10 +341246,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:457395"} subset: orphanet_rare {source="Orphanet:457395"} subset: rare synonym: "SEMDFA" EXACT ABBREVIATION [OMIM:616723] -synonym: "spondyloepimetaphyseal dysplasia, faden-ALKURAYA type" RELATED [OMIM:616723] +synonym: "spondyloepimetaphyseal dysplasia, faden-ALKURAYA type" RELATED [] synonym: "spondyloepimetaphyseal dysplasia, faden-Alkuraya type" EXACT [OMIM:616723] -synonym: "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis" RELATED [OMIM:616723] -synonym: "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis" RELATED DEPRECATED [OMIM:616723] +synonym: "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis" RELATED [] +synonym: "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis" RELATED DEPRECATED [] xref: GARD:17808 {source="MONDO:GARD"} xref: MEDGEN:1800305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616723 {source="Orphanet:457395/e", source="MONDO:equivalentTo", source="Orphanet:457395"} @@ -341211,7 +341273,7 @@ synonym: "STHAG7" EXACT ABBREVIATION [OMIM:616724] synonym: "tooth agenesis caused by mutation in LRP6" EXACT [MONDO:design_pattern] synonym: "tooth agenesis, selective, 7" EXACT [OMIM:616724] synonym: "tooth agenesis, selective, 7; STHAG7" EXACT [] -synonym: "tooth agenesis, selective, type 7" EXACT [MONDORULE:1, OMIM:616724] +synonym: "tooth agenesis, selective, type 7" EXACT [MONDORULE:1] xref: GARD:18249 {source="MONDO:GARD"} xref: MEDGEN:899184 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616724 {source="MONDO:equivalentTo"} @@ -341231,12 +341293,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD33" EXACT ABBREVIATION [DOID:0110619, OMIM:616726] synonym: "ciliary dyskinesia, primary, 33" EXACT [OMIM:616726] -synonym: "ciliary dyskinesia, primary, 33, without situs inversus" RELATED [OMIM:616726] -synonym: "ciliary dyskinesia, primary, type 33" EXACT [MONDORULE:2, OMIM:616726] +synonym: "ciliary dyskinesia, primary, 33, without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 33" EXACT [MONDORULE:2] synonym: "GAS8 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia 33 without situs inversus" EXACT [DOID:0110619] synonym: "primary ciliary dyskinesia caused by mutation in GAS8" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 33" EXACT [DOID:0110619, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 33" EXACT [MONDORULE:2] xref: DOID:0110619 {source="MONDO:equivalentTo"} xref: GARD:16154 {source="MONDO:GARD"} xref: ICD10CM:Q34.8 {source="DOID:0110619"} @@ -341259,9 +341321,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:477993"} subset: orphanet_rare {source="Orphanet:477993"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cleft palate, psychomotor retardation, and distinctive FACIAL features" RELATED [OMIM:616728] -synonym: "cleft palate, psychomotor retardation, and distinctive Facial features" RELATED [OMIM:616728] -synonym: "CPRF" RELATED ABBREVIATION [OMIM:616728] +synonym: "cleft palate, psychomotor retardation, and distinctive FACIAL features" RELATED [] +synonym: "cleft palate, psychomotor retardation, and distinctive Facial features" RELATED [] +synonym: "CPRF" RELATED ABBREVIATION [] synonym: "palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:477993] xref: GARD:17862 {source="MONDO:GARD"} xref: MEDGEN:895943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -341303,8 +341365,8 @@ id: MONDO:0014753 name: obsolete autosomal recessive optic atrophy subset: ordo_disorder {source="Orphanet:98676"} subset: otar {source="MONDO:OTAR"} -synonym: "autosomal recessive isolated optic atrophy" NARROW [Orphanet:98676] -synonym: "autosomal recessive nonsyndromic optic atrophy" NARROW [Orphanet:98676] +synonym: "autosomal recessive isolated optic atrophy" NARROW [] +synonym: "autosomal recessive nonsyndromic optic atrophy" NARROW [] xref: ICD10CM:H47.2 {source="Orphanet:98676/attributed", source="Orphanet:98676/ntbt", source="Orphanet:98676"} xref: Orphanet:98676 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -341322,9 +341384,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "coenzyme Q10 deficiency caused by mutation in COQ7" EXACT [MONDO:design_pattern] -synonym: "coenzyme Q10 deficiency, primary, 8" EXACT [OMIM:616733] -synonym: "coenzyme Q10 deficiency, primary, type 8" EXACT [MONDORULE:1, OMIM:616733] -synonym: "COQ10D8" EXACT ABBREVIATION [OMIM:616733] +synonym: "coenzyme Q10 deficiency, primary, 8" EXACT [DOID:0070245, OMIM:616733] +synonym: "coenzyme Q10 deficiency, primary, type 8" EXACT [MONDORULE:1] +synonym: "COQ10D8" EXACT ABBREVIATION [DOID:0070245, OMIM:616733] synonym: "COQ7 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary coenzyme Q10 deficiency 8" EXACT [DOID:0070245] xref: DOID:0070245 {source="MONDO:equivalentTo"} @@ -341341,13 +341403,13 @@ id: MONDO:0014755 name: skin creases, congenital symmetric circumferential, 2 subset: gard_rare {source="GARD:16156", source="MONDO:GARD"} subset: rare -synonym: "CSCSC2" EXACT ABBREVIATION [OMIM:616734] +synonym: "CSCSC2" EXACT ABBREVIATION [DOID:0112243, OMIM:616734] synonym: "MAPRE2 multiple benign circumferential skin creases on limbs" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2" EXACT [MONDO:design_pattern] synonym: "skin creases, congenital symmetric circumferential, 2" EXACT [OMIM:616734] synonym: "skin creases, congenital symmetric circumferential, 2; CSCSC2" EXACT [] -synonym: "skin creases, congenital symmetric circumferential, type 2" EXACT [MONDORULE:1, OMIM:616734] -synonym: "symmetric circumferential skin creases, congenital, 2" EXACT [OMIM:616734, OMIM:genemap2] +synonym: "skin creases, congenital symmetric circumferential, type 2" EXACT [MONDORULE:1] +synonym: "symmetric circumferential skin creases, congenital, 2" EXACT [] xref: DOID:0112243 {source="MONDO:equivalentTo"} xref: GARD:16156 {source="MONDO:GARD"} xref: MEDGEN:902880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -341366,12 +341428,12 @@ id: MONDO:0014756 name: tremor, hereditary essential, 5 def: "Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "essential tremor caused by mutation in TENM4" EXACT [MONDO:design_pattern] -synonym: "essential tremor, hereditary, 5" EXACT [OMIM:616736, OMIM:genemap2] -synonym: "ETM5" EXACT ABBREVIATION [OMIM:616736] +synonym: "essential tremor, hereditary, 5" EXACT [] +synonym: "ETM5" EXACT ABBREVIATION [DOID:0111432, OMIM:616736] synonym: "TENM4 essential tremor" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "tremor, hereditary essential, 5" EXACT [OMIM:616736] synonym: "tremor, hereditary essential, 5; ETM5" EXACT [] -synonym: "tremor, hereditary essential, type 5" EXACT [MONDORULE:1, OMIM:616736] +synonym: "tremor, hereditary essential, type 5" EXACT [MONDORULE:1] xref: DOID:0111432 {source="MONDO:equivalentTo"} xref: MEDGEN:897748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616736 {source="MONDO:equivalentTo"} @@ -341394,11 +341456,11 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:487796"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "macrothrombocytopenia and intellectual disability syndrome" RELATED [OMIM:616737] -synonym: "macrothrombocytopenia and mental retardation syndrome" RELATED DEPRECATED [OMIM:616737] -synonym: "TAKENOUCHI-Kosaki syndrome" RELATED [OMIM:616737] +synonym: "macrothrombocytopenia and intellectual disability syndrome" RELATED [] +synonym: "macrothrombocytopenia and mental retardation syndrome" RELATED DEPRECATED [] +synonym: "TAKENOUCHI-Kosaki syndrome" RELATED [] synonym: "Takenouchi-Kosaki syndrome" EXACT [OMIM:616737, Orphanet:487796] -synonym: "TKS" RELATED ABBREVIATION [OMIM:616737] +synonym: "TKS" RELATED ABBREVIATION [] xref: GARD:17884 {source="MONDO:GARD"} xref: MEDGEN:906646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200985 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -341426,7 +341488,7 @@ synonym: "MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome synonym: "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM" EXACT [MONDO:design_pattern] synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 2" EXACT [OMIM:616738] synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2" EXACT [] -synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia type 2" EXACT [MONDORULE:1, OMIM:616738] +synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia type 2" EXACT [MONDORULE:1] synonym: "RUSAT2" EXACT ABBREVIATION [OMIM:616738] xref: GARD:18069 {source="MONDO:GARD"} xref: MEDGEN:901732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -341450,11 +341512,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT" EXACT [MONDO:design_pattern] synonym: "HNMT autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, autosomal recessive 51" EXACT [OMIM:616739, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 51" EXACT [OMIM:616739] -synonym: "intellectual disability, autosomal recessive type 51" EXACT [MONDORULE:2, OMIM:616739] +synonym: "intellectual developmental disorder, autosomal recessive 51" EXACT [OMIM:616739] +synonym: "intellectual disability, autosomal recessive 51" EXACT [] +synonym: "intellectual disability, autosomal recessive type 51" EXACT [MONDORULE:2] synonym: "mental retardation, autosomal recessive 51" EXACT DEPRECATED [OMIM:616739] -synonym: "mental retardation, autosomal recessive type 51" EXACT DEPRECATED [MONDORULE:2, OMIM:616739] +synonym: "mental retardation, autosomal recessive type 51" EXACT DEPRECATED [MONDORULE:2] synonym: "MRT51" EXACT ABBREVIATION [OMIM:616739] xref: DOID:0081214 {source="MONDO:equivalentTo"} xref: GARD:22571 {source="MONDO:GARD"} @@ -341476,11 +341538,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:476113"} subset: orphanet_rare {source="Orphanet:476113"} subset: rare -synonym: "CID due to TFRC deficiency" EXACT [Orphanet:476113] -synonym: "combined immunodeficiency due to TFRC deficiency" RELATED [Orphanet:476113] -synonym: "IMD46" EXACT ABBREVIATION [OMIM:616740] -synonym: "immunodeficiency 46" EXACT [OMIM:616740] -synonym: "immunodeficiency type 46" EXACT [MONDORULE:2, OMIM:616740] +synonym: "CID due to TFRC deficiency" EXACT [DOID:0111948, Orphanet:476113] +synonym: "combined immunodeficiency due to TFRC deficiency" RELATED [] +synonym: "IMD46" EXACT ABBREVIATION [DOID:0111948, OMIM:616740] +synonym: "immunodeficiency 46" EXACT [DOID:0111948, OMIM:616740] +synonym: "immunodeficiency type 46" EXACT [MONDORULE:2] xref: DOID:0111948 {source="MONDO:equivalentTo"} xref: GARD:17849 {source="MONDO:GARD"} xref: MEDGEN:1799556 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -341524,10 +341586,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014763 name: obsolete Bombay phenotype -synonym: "Bombay phenotype" EXACT [OMIM:616754, OMIM:genemap2] -synonym: "Bombay phenotype, digenic" EXACT [OMIM:616754, OMIM:genemap2] -synonym: "para-Bombay phenotype" RELATED [OMIM:616754] -synonym: "Reunion variant" RELATED [OMIM:616754] +synonym: "Bombay phenotype" EXACT [] +synonym: "Bombay phenotype, digenic" EXACT [] +synonym: "para-Bombay phenotype" RELATED [] +synonym: "Reunion variant" RELATED [] xref: OMIM:616754 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2942" xsd:anyURI @@ -341544,9 +341606,9 @@ subset: ordo_disorder {source="Orphanet:464282"} subset: orphanet_rare {source="Orphanet:464282"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spastic paraplegia and psychomotor retardation with or without seizures" RELATED [OMIM:616756] +synonym: "spastic paraplegia and psychomotor retardation with or without seizures" RELATED [] synonym: "spastic paraplegia-psychomotor retardation-seizures syndrome" EXACT [Orphanet:464282] -synonym: "SPPRS" RELATED ABBREVIATION [OMIM:616756] +synonym: "SPPRS" RELATED ABBREVIATION [] synonym: "SPPRS syndrome" EXACT [Orphanet:464282] xref: GARD:17816 {source="MONDO:GARD"} xref: MEDGEN:897828 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -341569,16 +341631,16 @@ def: "Any wooly hair in which the cause of the disease is a mutation in the KRT2 subset: gard_rare {source="GARD:16157", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ARWH3" EXACT ABBREVIATION [OMIM:616760] +synonym: "ARWH3" EXACT ABBREVIATION [DOID:0111574, OMIM:616760] synonym: "KRT25 woolly hair (disease)" EXACT OMO:0003005 [] synonym: "KRT25 wooly hair (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "woolly hair (disease) caused by mutation in KRT25" EXACT OMO:0003005 [] synonym: "woolly hair, autosomal recessive 3, with hypotrichosis" RELATED OMO:0003005 [] synonym: "woolly hair, autosomal recessive type 3" EXACT OMO:0003005 [] synonym: "wooly hair (disease) caused by mutation in KRT25" EXACT [] -synonym: "wooly hair, autosomal recessive 3" EXACT [OMIM:616760] -synonym: "wooly hair, autosomal recessive 3, with hypotrichosis" RELATED [OMIM:616760] -synonym: "wooly hair, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:616760] +synonym: "wooly hair, autosomal recessive 3" EXACT [] +synonym: "wooly hair, autosomal recessive 3, with hypotrichosis" RELATED [] +synonym: "wooly hair, autosomal recessive type 3" EXACT [MONDORULE:1] xref: DOID:0111574 {source="MONDO:equivalentTo"} xref: GARD:16157 {source="MONDO:GARD"} xref: MEDGEN:902275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -341593,8 +341655,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014766 name: leukodystrophy and acquired microcephaly with or without dystonia; subset: otar {source="MONDO:OTAR"} -synonym: "LDAMD" RELATED ABBREVIATION [OMIM:616763] -synonym: "leukodystrophy and acquired microcephaly with or without dystonia" RELATED [OMIM:616763] +synonym: "LDAMD" RELATED ABBREVIATION [] +synonym: "leukodystrophy and acquired microcephaly with or without dystonia" RELATED [] xref: MEDGEN:908888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616763 {source="MONDO:equivalentTo"} xref: UMLS:C4225213 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:908888"} @@ -341609,9 +341671,9 @@ subset: gard_rare {source="GARD:16158", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "SCKL9" EXACT ABBREVIATION [DOID:0070005, OMIM:616777] -synonym: "Seckel syndrome 9" EXACT [OMIM:616777] +synonym: "Seckel syndrome 9" EXACT [DOID:0070005, OMIM:616777] synonym: "Seckel syndrome caused by mutation in TRAIP" EXACT [MONDO:design_pattern] -synonym: "Seckel syndrome type 9" EXACT [MONDORULE:1, OMIM:616777] +synonym: "Seckel syndrome type 9" EXACT [MONDORULE:1] synonym: "TRAIP Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070005 {source="MONDO:equivalentTo"} xref: GARD:16158 {source="MONDO:GARD"} @@ -341635,9 +341697,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2" EXACT [DOID:0111036] -synonym: "CADASIL 2" EXACT [OMIM:616779] +synonym: "CADASIL 2" EXACT [DOID:0111036] synonym: "CADASIL caused by mutation in HTRA1" EXACT [MONDO:design_pattern] -synonym: "CADASIL type 2" EXACT [DOID:0111036, MONDORULE:1] +synonym: "CADASIL type 2" EXACT [MONDORULE:1] synonym: "CADASIL2" EXACT ABBREVIATION [OMIM:616779] synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" EXACT [OMIM:616779] synonym: "HTRA1 CADASIL" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -341656,8 +341718,8 @@ id: MONDO:0014769 name: inherited oocyte maturation defect subset: otar {source="MONDO:OTAR"} subset: prototype_pattern -synonym: "oocyte maturation defect" EXACT [OMIM:616780] -synonym: "OOMD" RELATED ABBREVIATION [OMIM:616780] +synonym: "oocyte maturation defect" EXACT [] +synonym: "OOMD" RELATED ABBREVIATION [] xref: OMIMPS:615774 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-6601-2165"} is_a: MONDO:0003847 {source="MONDO:indirect"} ! hereditary disease is_a: MONDO:0005047 {source="https://orcid.org/0000-0001-5208-3432"} ! infertility disorder @@ -341672,9 +341734,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEP104 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS25" EXACT ABBREVIATION [DOID:0110994, OMIM:616781] -synonym: "Joubert syndrome 25" EXACT [OMIM:616781] +synonym: "Joubert syndrome 25" EXACT [DOID:0110994, OMIM:616781] synonym: "Joubert syndrome caused by mutation in CEP104" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 25" EXACT [DOID:0110994, MONDORULE:2, OMIM:616781] +synonym: "Joubert syndrome type 25" EXACT [MONDORULE:2] xref: DOID:0110994 {source="MONDO:equivalentTo"} xref: GARD:16159 {source="MONDO:GARD"} xref: MEDGEN:895764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -341693,9 +341755,9 @@ subset: gard_rare {source="GARD:16160", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS26" EXACT ABBREVIATION [DOID:0110995, OMIM:616784] -synonym: "Joubert syndrome 26" EXACT [OMIM:616784] +synonym: "Joubert syndrome 26" EXACT [DOID:0110995, OMIM:616784] synonym: "Joubert syndrome caused by mutation in KIAA0556" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 26" EXACT [DOID:0110995, MONDORULE:2, OMIM:616784] +synonym: "Joubert syndrome type 26" EXACT [MONDORULE:2] synonym: "KIAA0556 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110995 {source="MONDO:equivalentTo"} xref: GARD:16160 {source="MONDO:GARD"} @@ -341716,8 +341778,8 @@ subset: rare synonym: "cleft lip/palate caused by mutation in DLX4" EXACT [MONDO:design_pattern] synonym: "DLX4 cleft lip/palate" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "OFC15" EXACT ABBREVIATION [OMIM:616788] -synonym: "orofacial cleft 15" EXACT [OMIM:616788] -synonym: "orofacial cleft type 15" EXACT [MONDORULE:2, OMIM:616788] +synonym: "orofacial cleft 15" EXACT [DOID:0080408, OMIM:616788] +synonym: "orofacial cleft type 15" EXACT [MONDORULE:2] xref: DOID:0080408 {source="MONDO:equivalentTo"} xref: GARD:18307 {source="MONDO:GARD"} xref: MEDGEN:909661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -341740,13 +341802,13 @@ subset: orphanet_rare {source="Orphanet:369891"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiac anomalies - developmental delay - facial dysmorphism syndrome" EXACT CLINGEN_LABEL [GARD:0012999] -synonym: "impaired intellectual development and distinctive facial features with or without cardiac defects" EXACT [OMIM:616789, OMIM:genemap2] -synonym: "intellectual disability and distinctive FACIAL features with or without CARDIAC defects" RELATED [OMIM:616789] -synonym: "intellectual disability and distinctive Facial features with or without Cardiac defects" EXACT [OMIM:616789] +synonym: "impaired intellectual development and distinctive facial features with or without cardiac defects" EXACT [OMIM:616789] +synonym: "intellectual disability and distinctive FACIAL features with or without CARDIAC defects" RELATED [] +synonym: "intellectual disability and distinctive Facial features with or without Cardiac defects" EXACT [] synonym: "intellectual disability and distinctive facial features with or without cardiac defects" RELATED [GARD:0012999] synonym: "MED13L haploinsufficiency syndrome" RELATED [GARD:0012999] synonym: "MED13L syndrome" RELATED [GARD:0012999] -synonym: "mental retardation and distinctive FACIAL features with or without CARDIAC defects" RELATED DEPRECATED [OMIM:616789] +synonym: "mental retardation and distinctive FACIAL features with or without CARDIAC defects" RELATED DEPRECATED [] synonym: "mental retardation and distinctive Facial features with or without Cardiac defects" EXACT DEPRECATED [OMIM:616789] synonym: "MRFACD" EXACT ABBREVIATION [OMIM:616789] xref: GARD:17588 {source="MONDO:GARD"} @@ -341772,7 +341834,7 @@ subset: rare synonym: "NBLST7" EXACT ABBREVIATION [OMIM:616792] synonym: "neuroblastoma, susceptibility to, 7" EXACT [OMIM:616792] synonym: "neuroblastoma, susceptibility to, 7; NBLST7" EXACT [] -synonym: "neuroblastoma, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:616792] +synonym: "neuroblastoma, susceptibility to, type 7" EXACT [MONDORULE:1] xref: MEDGEN:899178 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616792 {source="MONDO:equivalentTo"} xref: UMLS:C4225207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:899178"} @@ -341789,11 +341851,11 @@ subset: ordo_disorder {source="Orphanet:466784"} subset: orphanet_rare {source="Orphanet:466784"} subset: rare synonym: "combined oxidative phosphorylation defect type 28" EXACT [Orphanet:466784] -synonym: "combined oxidative phosphorylation deficiency 28" EXACT [OMIM:616794] +synonym: "combined oxidative phosphorylation deficiency 28" EXACT [DOID:0111470, OMIM:616794] synonym: "combined oxidative phosphorylation deficiency caused by mutation in SLC25A26" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 28" EXACT [MONDORULE:2, OMIM:616794] -synonym: "COXPD28" EXACT ABBREVIATION [OMIM:616794, Orphanet:466784] -synonym: "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect" EXACT [Orphanet:466784] +synonym: "combined oxidative phosphorylation deficiency type 28" EXACT [MONDORULE:2] +synonym: "COXPD28" EXACT ABBREVIATION [DOID:0111470, OMIM:616794, Orphanet:466784] +synonym: "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect" EXACT [DOID:0111470, Orphanet:466784] synonym: "SLC25A26 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111470 {source="MONDO:equivalentTo"} xref: GARD:17831 {source="MONDO:GARD"} @@ -341818,9 +341880,9 @@ subset: ordo_disorder {source="Orphanet:458803"} subset: orphanet_rare {source="Orphanet:458803"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCA42" EXACT ABBREVIATION [OMIM:616795, Orphanet:458803] +synonym: "SCA42" EXACT ABBREVIATION [DOID:0111742, NCIT:C171269, OMIM:616795, Orphanet:458803] synonym: "spinocerebellar ataxia 42" EXACT [OMIM:616795] -synonym: "spinocerebellar ataxia type 42" EXACT [MONDORULE:2, OMIM:616795] +synonym: "spinocerebellar ataxia type 42" EXACT [MONDORULE:2, NCIT:C171269, Orphanet:458803] xref: DOID:0111742 {source="MONDO:equivalentTo"} xref: EFO:0009059 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:17811 {source="MONDO:GARD"} @@ -341844,7 +341906,7 @@ subset: rare synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 2" EXACT CLINGEN_LABEL [OMIM:616801] synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2" EXACT [] synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80" EXACT [MONDO:design_pattern] -synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies type 2" EXACT [MONDORULE:1, OMIM:616801] +synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies type 2" EXACT [MONDORULE:1] synonym: "IHPRF2" EXACT ABBREVIATION [OMIM:616801] synonym: "UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18458 {source="MONDO:GARD"} @@ -341866,7 +341928,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:530983"} subset: orphanet_rare {source="Orphanet:530983"} subset: rare -synonym: "Lamb-Shaffer syndrome" EXACT CLINGEN_LABEL [OMIM:616803] +synonym: "Lamb-Shaffer syndrome" EXACT CLINGEN_LABEL [OMIM:616803, Orphanet:530983] synonym: "Lamb-Shaffer syndrome; LAMSHF" EXACT [] synonym: "LAMSHF" EXACT ABBREVIATION [OMIM:616803] xref: GARD:22211 {source="MONDO:GARD"} @@ -341886,9 +341948,9 @@ subset: gard_rare {source="GARD:16162", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Wilms tumor 6" EXACT [OMIM:616806] -synonym: "Wilms tumor 6, susceptibility to" RELATED [OMIM:616806, OMIM:genemap2] +synonym: "Wilms tumor 6, susceptibility to" RELATED [] synonym: "Wilms tumor 6; WT6" EXACT [] -synonym: "Wilms tumor type 6" EXACT [MONDORULE:1, OMIM:616806] +synonym: "Wilms tumor type 6" EXACT [MONDORULE:1] synonym: "Wilms tumour 6, susceptibility to" RELATED OMO:0003005 [] synonym: "Wilms tumour 6; WT6" EXACT OMO:0003005 [] synonym: "Wilms tumour type 6" EXACT OMO:0003005 [] @@ -341911,13 +341973,13 @@ def: "Any hyperphosphatasia-intellectual disability syndrome in which the cause subset: gard_rare {source="GARD:18354", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "glycosylphosphatidylinositol biosynthesis defect 12" RELATED [OMIM:616809] +synonym: "glycosylphosphatidylinositol biosynthesis defect 12" RELATED [] synonym: "HPMRS6" EXACT ABBREVIATION [OMIM:616809] -synonym: "hyperphosphatasia with intellectual disability syndrome 6" EXACT [OMIM:616809] +synonym: "hyperphosphatasia with intellectual disability syndrome 6" EXACT [] synonym: "hyperphosphatasia with intellectual disability syndrome 6; HPMRS6" EXACT [] -synonym: "hyperphosphatasia with intellectual disability syndrome type 6" EXACT [MONDORULE:1, OMIM:616809] +synonym: "hyperphosphatasia with intellectual disability syndrome type 6" EXACT [MONDORULE:1] synonym: "hyperphosphatasia with mental retardation syndrome 6" EXACT DEPRECATED [OMIM:616809] -synonym: "hyperphosphatasia with mental retardation syndrome type 6" EXACT DEPRECATED [MONDORULE:1, OMIM:616809] +synonym: "hyperphosphatasia with mental retardation syndrome type 6" EXACT DEPRECATED [MONDORULE:1] synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY" EXACT [MONDO:design_pattern] synonym: "PIGY hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070437 {source="MONDO:equivalentTo"} @@ -341939,11 +342001,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:478029"} subset: orphanet_rare {source="Orphanet:478029"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 29" EXACT [MONDO:0033187, OMIM:616811] +synonym: "combined oxidative phosphorylation deficiency 29" EXACT [DOID:0111501, MONDO:0033187, OMIM:616811] synonym: "combined oxidative phosphorylation deficiency 29; COXPD29" EXACT [] synonym: "combined oxidative phosphorylation deficiency caused by mutation in TXN2" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 29" EXACT [MONDORULE:2, OMIM:616811] -synonym: "COXPD29" EXACT ABBREVIATION [OMIM:616811] +synonym: "combined oxidative phosphorylation deficiency type 29" EXACT [MONDORULE:2] +synonym: "COXPD29" EXACT ABBREVIATION [DOID:0111501, OMIM:616811, Orphanet:478029] synonym: "TXN2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111501 {source="MONDO:equivalentTo"} xref: GARD:17863 {source="MONDO:GARD"} @@ -341975,10 +342037,10 @@ subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome" EXACT [Orphanet:476084] synonym: "BVES autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LGMD2X" EXACT ABBREVIATION [DOID:0110290, OMIM:616812, Orphanet:476084] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 25" EXACT [OMIM:616812, OMIM:genemap2] -synonym: "muscular dystrophy, limb-girdle, type 2X" EXACT [DOID:0110290] -synonym: "muscular dystrophy, limb-girdle, type 2x" EXACT [OMIM:616812] +synonym: "LGMD2X" EXACT ABBREVIATION [DOID:0110290, Orphanet:476084] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 25" EXACT [OMIM:616812] +synonym: "muscular dystrophy, limb-girdle, type 2X" EXACT [DOID:0110290, OMIM:616812] +synonym: "muscular dystrophy, limb-girdle, type 2x" EXACT [DOID:0110290, OMIM:616812] xref: DOID:0110290 {source="MONDO:equivalentTo"} xref: GARD:17847 {source="MONDO:GARD"} xref: MEDGEN:1799561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -341995,13 +342057,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014783 name: obsolete preimplantation embryonic lethality 1 def: "OBSOLETE. Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene." [MONDO:patterns/disease_series_by_gene] -synonym: "preimplantation embryonic lethality" BROAD [OMIM:616814, OMIM:genemap2] -synonym: "preimplantation embryonic lethality 1" EXACT [OMIM:616814] +synonym: "preimplantation embryonic lethality" BROAD [] +synonym: "preimplantation embryonic lethality 1" EXACT [] synonym: "preimplantation embryonic lethality 1; PREMBL1" EXACT [] synonym: "preimplantation embryonic lethality caused by mutation in TLE6" EXACT [MONDO:design_pattern] -synonym: "preimplantation embryonic lethality type 1" EXACT [MONDORULE:1, OMIM:616814] -synonym: "Prembl" RELATED [OMIM:616814] -synonym: "PREMBL1" EXACT ABBREVIATION [OMIM:616814] +synonym: "preimplantation embryonic lethality type 1" EXACT [MONDORULE:1] +synonym: "Prembl" RELATED [] +synonym: "PREMBL1" EXACT ABBREVIATION [] synonym: "TLE6 preimplantation embryonic lethality" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: OMIM:616814 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -342042,7 +342104,7 @@ subset: rare synonym: "microcephaly, short stature, and impaired glucose metabolism 2" EXACT [OMIM:616817] synonym: "microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2" EXACT [] synonym: "microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B" EXACT [MONDO:design_pattern] -synonym: "microcephaly, short stature, and impaired glucose metabolism type 2" EXACT [MONDORULE:1, OMIM:616817] +synonym: "microcephaly, short stature, and impaired glucose metabolism type 2" EXACT [MONDORULE:1] synonym: "MSSGM2" EXACT ABBREVIATION [OMIM:616817] synonym: "PPP1R15B microcephaly, short stature, and impaired glucose metabolism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18460 {source="MONDO:GARD"} @@ -342062,10 +342124,10 @@ subset: predisposition synonym: "IgA glomerulonephritis caused by mutation in SPRY2" EXACT [MONDO:design_pattern] synonym: "IgA nephropathy, susceptibility to, 3" EXACT [OMIM:616818] synonym: "IgA nephropathy, susceptibility to, 3; IGAN3" EXACT [] -synonym: "IgA nephropathy, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:616818] +synonym: "IgA nephropathy, susceptibility to, type 3" EXACT [MONDORULE:1] synonym: "IGAN3" EXACT ABBREVIATION [OMIM:616818] synonym: "SPRY2 IgA glomerulonephritis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "susceptibility to IgA nephropathy 3" RELATED [OMIM:616818] +synonym: "susceptibility to IgA nephropathy 3" RELATED [] xref: MEDGEN:897340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616818 {source="MONDO:equivalentTo"} xref: UMLS:C4225194 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:897340"} @@ -342084,9 +342146,9 @@ subset: ordo_disorder {source="Orphanet:466688"} subset: ordo_malformation_syndrome {source="Orphanet:466688"} subset: orphanet_rare {source="Orphanet:466688"} subset: rare -synonym: "Birk-Flusser syndrome" RELATED [OMIM:616819] +synonym: "Birk-Flusser syndrome" RELATED [] synonym: "CCAFCA" EXACT ABBREVIATION [OMIM:616819] -synonym: "corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia" RELATED [OMIM:616819] +synonym: "corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia" RELATED [] synonym: "corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia" EXACT [OMIM:616819] xref: GARD:17824 {source="MONDO:GARD"} xref: MEDGEN:902346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -342110,11 +342172,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2" EXACT [MONDO:design_pattern] -synonym: "LGMD2W" EXACT ABBREVIATION [DOID:0110288, OMIM:616827, Orphanet:466801] +synonym: "LGMD2W" EXACT ABBREVIATION [DOID:0110288] synonym: "LIMS2 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue" EXACT [OMIM:616827, OMIM:genemap2] -synonym: "muscular dystrophy, limb-girdle, type 2W" EXACT [DOID:0110288] -synonym: "muscular dystrophy, limb-girdle, type 2w" EXACT [OMIM:616827] +synonym: "muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue" EXACT [OMIM:616827] +synonym: "muscular dystrophy, limb-girdle, type 2W" EXACT [DOID:0110288, OMIM:616827] +synonym: "muscular dystrophy, limb-girdle, type 2w" EXACT [DOID:0110288, OMIM:616827] xref: DOID:0110288 {source="MONDO:equivalentTo"} xref: GARD:17834 {source="MONDO:GARD"} xref: MEDGEN:897675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -342138,13 +342200,13 @@ subset: ordo_disorder {source="Orphanet:468684"} subset: orphanet_rare {source="Orphanet:468684"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carbohydrate deficient glycoprotein syndrome type IIo" EXACT [Orphanet:468684] -synonym: "CDG IIo" RELATED [OMIM:616828] -synonym: "CDG syndrome type IIo" EXACT [Orphanet:468684] +synonym: "carbohydrate deficient glycoprotein syndrome type IIo" EXACT [DOID:0070267, Orphanet:468684] +synonym: "CDG IIo" RELATED [] +synonym: "CDG syndrome type IIo" EXACT [DOID:0070267, Orphanet:468684] synonym: "CDG-IIo" EXACT [Orphanet:468684] -synonym: "CDG2O" EXACT ABBREVIATION [OMIM:616828, Orphanet:468684] -synonym: "congenital disorder of glycosylation type 2o" EXACT [Orphanet:468684] -synonym: "congenital disorder of glycosylation type IIo" EXACT [Orphanet:468684] +synonym: "CDG2O" EXACT ABBREVIATION [DOID:0070267, OMIM:616828, Orphanet:468684] +synonym: "congenital disorder of glycosylation type 2o" EXACT [DOID:0070267, Orphanet:468684] +synonym: "congenital disorder of glycosylation type IIo" EXACT [DOID:0070267, Orphanet:468684] synonym: "congenital disorder of glycosylation, type IIo" EXACT [OMIM:616828] xref: DOID:0070267 {source="MONDO:equivalentTo"} xref: GARD:17845 {source="MONDO:GARD"} @@ -342165,13 +342227,13 @@ subset: ordo_disorder {source="Orphanet:466703"} subset: orphanet_rare {source="Orphanet:466703"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carbohydrate deficient glycoprotein syndrome type IIp" EXACT [Orphanet:466703] -synonym: "CDG IIp" RELATED [OMIM:616829] -synonym: "CDG syndrome type IIp" EXACT [Orphanet:466703] +synonym: "carbohydrate deficient glycoprotein syndrome type IIp" EXACT [DOID:0070268, Orphanet:466703] +synonym: "CDG IIp" RELATED [] +synonym: "CDG syndrome type IIp" EXACT [DOID:0070268, Orphanet:466703] synonym: "CDG-IIp" EXACT [Orphanet:466703] -synonym: "CDG2P" EXACT ABBREVIATION [OMIM:616829, Orphanet:466703] -synonym: "congenital disorder of glycosylation type 2p" EXACT [Orphanet:466703] -synonym: "congenital disorder of glycosylation type IIp" EXACT [Orphanet:466703] +synonym: "CDG2P" EXACT ABBREVIATION [DOID:0070268, OMIM:616829, Orphanet:466703] +synonym: "congenital disorder of glycosylation type 2p" EXACT [DOID:0070268, Orphanet:466703] +synonym: "congenital disorder of glycosylation type IIp" EXACT [DOID:0070268, Orphanet:466703] synonym: "congenital disorder of glycosylation, type IIp" EXACT [OMIM:616829] xref: DOID:0070268 {source="MONDO:equivalentTo"} xref: GARD:17825 {source="MONDO:GARD"} @@ -342192,8 +342254,9 @@ subset: ordo_disorder {source="Orphanet:597738"} subset: orphanet_rare {source="Orphanet:597738"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LLs" EXACT ABBREVIATION [OMIM:616831] -synonym: "Luscan-Lumish syndrome" EXACT CLINGEN_LABEL [OMIM:616831] +synonym: "LLS" EXACT ABBREVIATION [OMIM:616831] +synonym: "LLs" EXACT ABBREVIATION [] +synonym: "Luscan-Lumish syndrome" EXACT CLINGEN_LABEL [OMIM:616831, Orphanet:597738] synonym: "Luscan-Lumish syndrome; LLs" EXACT [] synonym: "SETD2-related overgrowth syndrome" EXACT [Orphanet:597738] xref: GARD:13789 {source="MONDO:GARD"} @@ -342212,7 +342275,7 @@ id: MONDO:0014792 name: Paget disease of bone 6 synonym: "Paget disease of bone 6" EXACT [OMIM:616833] synonym: "Paget disease of bone 6; PDB6" EXACT [] -synonym: "Paget disease of bone type 6" EXACT [MONDORULE:1, OMIM:616833] +synonym: "Paget disease of bone type 6" EXACT [MONDORULE:1] synonym: "PDB6" EXACT ABBREVIATION [OMIM:616833] xref: DOID:0081369 {source="MONDO:equivalentTo"} xref: MEDGEN:908743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -342235,7 +342298,7 @@ subset: orphanet_rare {source="Orphanet:488168"} subset: rare synonym: "MCCPD" EXACT ABBREVIATION [OMIM:616834] synonym: "microcephaly, congenital cataract, and psoriasiform dermatitis" EXACT [OMIM:616834] -synonym: "Sc4Mol deficiency" RELATED [OMIM:616834] +synonym: "Sc4Mol deficiency" RELATED [] synonym: "smo deficiency" EXACT [Orphanet:488168] synonym: "sterol-C4-methyl oxidase deficiency" EXACT [Orphanet:488168] xref: GARD:17886 {source="MONDO:GARD"} @@ -342259,10 +342322,10 @@ subset: gard_rare {source="GARD:16163", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GMNN Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Meier-GORLIN syndrome 6" RELATED [OMIM:616835] -synonym: "Meier-Gorlin syndrome 6" EXACT [OMIM:616835] +synonym: "Meier-GORLIN syndrome 6" RELATED [] +synonym: "Meier-Gorlin syndrome 6" EXACT [DOID:0080517, OMIM:616835] synonym: "Meier-Gorlin syndrome caused by mutation in GMNN" EXACT [MONDO:design_pattern] -synonym: "Meier-Gorlin syndrome type 6" EXACT [MONDORULE:1, OMIM:616835] +synonym: "Meier-Gorlin syndrome type 6" EXACT [MONDORULE:1] synonym: "MGORS6" EXACT ABBREVIATION [OMIM:616835] xref: DOID:0080517 {source="MONDO:equivalentTo"} xref: GARD:16163 {source="MONDO:GARD"} @@ -342280,7 +342343,7 @@ id: MONDO:0014795 name: exercise intolerance, riboflavin-responsive subset: otar {source="MONDO:OTAR"} synonym: "exercise intolerance, riboflavin-responsive" EXACT [OMIM:616839] -synonym: "RREI" RELATED ABBREVIATION [OMIM:616839] +synonym: "RREI" RELATED ABBREVIATION [] xref: MEDGEN:896368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616839 {source="MONDO:equivalentTo"} xref: UMLS:C4225187 {source="MEDGEN:896368", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -342296,11 +342359,11 @@ subset: gard_rare {source="GARD:18610", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive early-onset Parkinson disease 23" EXACT CLINGEN_LABEL [DOID:0060896] -synonym: "autosomal recessive early-onset Parkinson's disease 23" RELATED [DOID:0060896] -synonym: "autosomal recessive early-onset Parksinson disease type 23" EXACT [DOID:0060896, MONDORULE:2] +synonym: "autosomal recessive early-onset Parkinson's disease 23" RELATED [] +synonym: "autosomal recessive early-onset Parksinson disease type 23" EXACT [MONDORULE:2] synonym: "PARK23" EXACT ABBREVIATION [OMIM:616840] synonym: "Parkinson disease 23, autosomal recessive early-onset" EXACT [OMIM:616840] -synonym: "Parkinson disease 23, autosomal recessive, early onset" EXACT [OMIM:616840, OMIM:genemap2] +synonym: "Parkinson disease 23, autosomal recessive, early onset" EXACT [] synonym: "VPS13C young-onset Parkinson disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "young-onset Parkinson disease caused by mutation in VPS13C" EXACT [MONDO:design_pattern] xref: DOID:0060896 {source="MONDO:equivalentTo"} @@ -342323,11 +342386,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "generalised lymphatic dysplasia of Fotiou" RELATED OMO:0003005 [] -synonym: "generalized lymphatic dysplasia of Fotiou" RELATED [OMIM:616843] -synonym: "LMPH3" EXACT ABBREVIATION [OMIM:616843] -synonym: "lymphedema, hereditary, 3" RELATED [OMIM:616843] -synonym: "lymphedema, hereditary, III" EXACT [OMIM:616843] -synonym: "lymphedema, hereditary, type III" EXACT [MONDORULE:3, OMIM:616843] +synonym: "generalized lymphatic dysplasia of Fotiou" RELATED [] +synonym: "LMPH3" EXACT ABBREVIATION [] +synonym: "lymphedema, hereditary, 3" RELATED [] +synonym: "lymphedema, hereditary, III" EXACT [] +synonym: "lymphedema, hereditary, type III" EXACT [MONDORULE:3] xref: MEDGEN:908120 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616843 {source="MONDO:equivalentTo"} xref: UMLS:C4225184 {source="MEDGEN:908120", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -342362,8 +342425,8 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cataract 45" EXACT [OMIM:616851] -synonym: "cataract type 45" EXACT [DOID:0110262, MONDORULE:2, OMIM:616851] +synonym: "cataract 45" EXACT [DOID:0110262, OMIM:616851] +synonym: "cataract type 45" EXACT [MONDORULE:2] synonym: "CTRCT45" EXACT ABBREVIATION [DOID:0110262, OMIM:616851] synonym: "early-onset non-syndromic cataract caused by mutation in SIPA1L3" EXACT [MONDO:design_pattern] synonym: "SIPA1L3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -342387,7 +342450,7 @@ subset: ordo_disorder {source="Orphanet:447977"} subset: orphanet_rare {source="Orphanet:447977"} subset: rare synonym: "myopathy, scapulohumeroperoneal" EXACT [OMIM:616852] -synonym: "SHPM" RELATED ABBREVIATION [OMIM:616852] +synonym: "SHPM" RELATED ABBREVIATION [] xref: GARD:17779 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:447977/attributed", source="Orphanet:447977/ntbt", source="Orphanet:447977"} xref: MEDGEN:905125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -342408,9 +342471,9 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:496751"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations" RELATED [OMIM:616854] +synonym: "epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations" RELATED [] synonym: "epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome" EXACT [Orphanet:496751] -synonym: "even-plus syndrome" EXACT [OMIM:616854] +synonym: "even-plus syndrome" EXACT [OMIM:616854, Orphanet:496751] synonym: "EVPLS" EXACT ABBREVIATION [OMIM:616854] xref: GARD:17913 {source="MONDO:GARD"} xref: MEDGEN:904613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -342432,9 +342495,9 @@ def: "Any Cowden disease in which the cause of the disease is a mutation in the subset: gard_rare {source="GARD:16470", source="MONDO:GARD"} subset: rare synonym: "Cowden disease caused by mutation in SEC23B" EXACT [MONDO:design_pattern] -synonym: "Cowden syndrome 7" EXACT [OMIM:616858] -synonym: "Cowden syndrome type 7" EXACT [MONDORULE:1, OMIM:616858] -synonym: "CWS7" RELATED ABBREVIATION [OMIM:616858] +synonym: "Cowden syndrome 7" EXACT [DOID:0081003, OMIM:616858] +synonym: "Cowden syndrome type 7" EXACT [MONDORULE:1] +synonym: "CWS7" RELATED ABBREVIATION [] synonym: "SEC23B Cowden disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081003 {source="MONDO:equivalentTo"} xref: GARD:16470 {source="MONDO:GARD"} @@ -342456,7 +342519,7 @@ subset: ordo_disorder {source="Orphanet:401866"} subset: orphanet_rare {source="Orphanet:401866"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "childhood-onset spasticity with hyperglycinemia" RELATED [Orphanet:401866] +synonym: "childhood-onset spasticity with hyperglycinemia" RELATED [] synonym: "childhood-onset spasticity with variant non-ketotic hyperglycinemia" EXACT [Orphanet:401866] synonym: "SPAHGC" EXACT ABBREVIATION [OMIM:616859] synonym: "spasticity, childhood-onset, with hyperglycinemia" EXACT [OMIM:616859] @@ -342513,7 +342576,7 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:643549"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HAFOUS" EXACT ABBREVIATION [OMIM:616863] +synonym: "HAFOUS" EXACT ABBREVIATION [Orphanet:643549] synonym: "USP7-Related Diseases" EXACT [NORD:1917] xref: MEDGEN:1719035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NORD:1917 {source="MONDO:NORD"} @@ -342540,8 +342603,8 @@ synonym: "SMA1 with congenital bone fractures" RELATED [GARD:0004947] synonym: "SMABF1" EXACT ABBREVIATION [OMIM:616866] synonym: "spinal muscular atrophy type 1 with congenital bone fractures" RELATED [GARD:0004947] synonym: "spinal muscular atrophy with congenital bone fractures 1" EXACT CLINGEN_LABEL [OMIM:616866] -synonym: "spinal muscular atrophy with congenital bone fractures type 1" EXACT [MONDORULE:1, OMIM:616866] -synonym: "spinal muscular atrophy, type I, with congenital bone fractures" EXACT [MONDO:0010059, OMIM:271225] +synonym: "spinal muscular atrophy with congenital bone fractures type 1" EXACT [MONDORULE:1] +synonym: "spinal muscular atrophy, type I, with congenital bone fractures" EXACT [MONDO:0010059, OMIM:616866] synonym: "TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:4947 {source="MONDO:GARD"} xref: MEDGEN:896011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -342567,7 +342630,7 @@ synonym: "ASCC1 prenatal-onset spinal muscular atrophy with congenital bone frac synonym: "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1" EXACT [MONDO:design_pattern] synonym: "SMABF2" EXACT ABBREVIATION [OMIM:616867] synonym: "spinal muscular atrophy with congenital bone fractures 2" EXACT [OMIM:616867] -synonym: "spinal muscular atrophy with congenital bone fractures type 2" EXACT [MONDORULE:1, OMIM:616867] +synonym: "spinal muscular atrophy with congenital bone fractures type 2" EXACT [MONDORULE:1] xref: GARD:18495 {source="MONDO:GARD"} xref: MEDGEN:907910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616867 {source="MONDO:equivalentTo"} @@ -342584,11 +342647,11 @@ def: "Any secretory diarrhea in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:18261", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "congenital secretory sodium diarrhea type 8" EXACT [DOID:0060777, MONDORULE:1] +synonym: "congenital secretory sodium diarrhea type 8" EXACT [MONDORULE:1] synonym: "congenital secretory sodium diarrhoea type 8" EXACT OMO:0003005 [] synonym: "DIAR8" EXACT ABBREVIATION [DOID:0060777, OMIM:616868] synonym: "diarrhea 8, secretory sodium, congenital" EXACT [OMIM:616868] -synonym: "diarrhea, congenital sodium" RELATED [OMIM:616868] +synonym: "diarrhea, congenital sodium" RELATED [] synonym: "diarrhoea 8, secretory sodium, congenital" EXACT OMO:0003005 [] synonym: "secretory diarrhea caused by mutation in SLC9A3" EXACT [MONDO:design_pattern] synonym: "secretory diarrhoea caused by mutation in SLC9A3" EXACT OMO:0003005 [] @@ -342621,11 +342684,11 @@ subset: orphanet_rare {source="Orphanet:488647"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DDX41 hereditary neoplastic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DDX41-related hematologic malignancy predisposition syndrome" EXACT CLINGEN_LABEL [] +synonym: "DDX41-related hematologic malignancy predisposition syndrome" EXACT CLINGEN_LABEL [Orphanet:488647] synonym: "hereditary neoplastic syndrome caused by mutation in DDX41" EXACT [MONDO:design_pattern] synonym: "MPLPF" EXACT ABBREVIATION [OMIM:616871] synonym: "myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to" EXACT [OMIM:616871] -synonym: "susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms" RELATED [OMIM:616871] +synonym: "susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms" RELATED [] xref: GARD:17899 {source="MONDO:GARD"} xref: MEDGEN:895780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616871 {source="MONDO:equivalentTo", source="Orphanet:488647"} @@ -342655,7 +342718,7 @@ synonym: "combined immunodeficiency due to IKAROS deficiency" EXACT [Orphanet:31 synonym: "CVID13" EXACT ABBREVIATION [OMIM:616873] synonym: "IKZF1 syndrome with combined immunodeficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "immunodeficiency, common variable, 13" EXACT [OMIM:616873] -synonym: "immunodeficiency, common variable, type 13" EXACT [MONDORULE:2, OMIM:616873] +synonym: "immunodeficiency, common variable, type 13" EXACT [MONDORULE:2] synonym: "syndrome with combined immunodeficiency caused by mutation in IKZF1" EXACT [MONDO:design_pattern] xref: DOID:0081155 {source="MONDO:equivalentTo"} xref: GARD:17442 {source="MONDO:GARD"} @@ -342674,8 +342737,8 @@ id: MONDO:0014811 name: cerebellar atrophy, visual impairment, and psychomotor retardation; subset: inferred_rare subset: rare -synonym: "CAVIPMR" RELATED ABBREVIATION [OMIM:616875] -synonym: "cerebellar atrophy, visual impairment, and psychomotor retardation" RELATED [OMIM:616875] +synonym: "CAVIPMR" RELATED ABBREVIATION [] +synonym: "cerebellar atrophy, visual impairment, and psychomotor retardation" RELATED [] xref: DOID:0081276 {source="MONDO:equivalentTo"} xref: MEDGEN:905041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616875 {source="MONDO:equivalentTo"} @@ -342703,11 +342766,11 @@ subset: rare synonym: "HIKESHI leukodystrophy" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "hikeshi leukodystrophy" EXACT [MONDO:design_pattern] synonym: "HLD13" EXACT ABBREVIATION [DOID:0060795, OMIM:616881] -synonym: "hypomyelinating leukodystrophy type 13" EXACT [DOID:0060795, MONDORULE:2] +synonym: "hypomyelinating leukodystrophy type 13" EXACT [MONDORULE:2] synonym: "leukodystrophy caused by mutation in HIKESHI" EXACT [] synonym: "leukodystrophy caused by mutation in hikeshi" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 13" EXACT [OMIM:616881] -synonym: "leukodystrophy, hypomyelinating, type 13" EXACT [MONDORULE:2, OMIM:616881] +synonym: "leukodystrophy, hypomyelinating, type 13" EXACT [MONDORULE:2] xref: DOID:0060795 {source="MONDO:equivalentTo"} xref: MEDGEN:896545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616881 {source="DOID:0060795", source="MONDO:equivalentTo"} @@ -342725,9 +342788,9 @@ subset: gard_rare {source="GARD:16165", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "advanced sleep phase syndrome caused by mutation in PER3" EXACT [MONDO:design_pattern] -synonym: "advanced sleep phase syndrome type 3" EXACT [DOID:0110013, MONDORULE:1] +synonym: "advanced sleep phase syndrome type 3" EXACT [MONDORULE:1] synonym: "advanced sleep phase syndrome, familial, 3" EXACT [OMIM:616882] -synonym: "advanced sleep phase syndrome, familial, type 3" EXACT [MONDORULE:1, OMIM:616882] +synonym: "advanced sleep phase syndrome, familial, type 3" EXACT [MONDORULE:1] synonym: "familial advanced sleep phase syndrome 3" EXACT [DOID:0110013] synonym: "FASPS3" EXACT ABBREVIATION [DOID:0110013, OMIM:616882] synonym: "PER3 advanced sleep phase syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -342749,12 +342812,12 @@ subset: gard_rare {source="GARD:22572", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L" EXACT [MONDO:design_pattern] -synonym: "intellectual developmental disorder, autosomal recessive 52" EXACT [OMIM:616887, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 52" EXACT [OMIM:616887] -synonym: "intellectual disability, autosomal recessive type 52" EXACT [MONDORULE:2, OMIM:616887] +synonym: "intellectual developmental disorder, autosomal recessive 52" EXACT [OMIM:616887] +synonym: "intellectual disability, autosomal recessive 52" EXACT [] +synonym: "intellectual disability, autosomal recessive type 52" EXACT [MONDORULE:2] synonym: "LMAN2L autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "mental retardation, autosomal recessive 52" EXACT DEPRECATED [OMIM:616887] -synonym: "mental retardation, autosomal recessive type 52" EXACT DEPRECATED [MONDORULE:2, OMIM:616887] +synonym: "mental retardation, autosomal recessive type 52" EXACT DEPRECATED [MONDORULE:2] synonym: "MRT52" EXACT ABBREVIATION [OMIM:616887] xref: DOID:0081215 {source="MONDO:equivalentTo"} xref: GARD:22572 {source="MONDO:GARD"} @@ -342844,12 +342907,12 @@ def: "Any Robinow syndrome in which the cause of the disease is a mutation in th subset: gard_rare {source="GARD:18549", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant Robinow syndrome type 3" EXACT [DOID:0060767, MONDORULE:1] +synonym: "autosomal dominant Robinow syndrome type 3" EXACT [MONDORULE:1] synonym: "DRS3" EXACT ABBREVIATION [DOID:0060767, OMIM:616894] synonym: "DVL3 Robinow syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "Robinow syndrome caused by mutation in DVL3" EXACT [MONDO:design_pattern] synonym: "Robinow syndrome, autosomal dominant 3" EXACT [OMIM:616894] -synonym: "Robinow syndrome, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:616894] +synonym: "Robinow syndrome, autosomal dominant type 3" EXACT [MONDORULE:1] xref: DOID:0060767 {source="MONDO:equivalentTo"} xref: GARD:18549 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="DOID:0060767"} @@ -342874,7 +342937,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" EXACT [OMIM:616896] synonym: "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14" EXACT [] -synonym: "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)" EXACT [OMIM:616896, OMIM:genemap2] +synonym: "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)" EXACT [] synonym: "mitochondrial DNA depletion syndrome caused by mutation in OPA1" EXACT [MONDO:design_pattern] synonym: "MTDPS14" EXACT ABBREVIATION [OMIM:616896] synonym: "OPA1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -342900,9 +342963,9 @@ subset: orphanet_rare {source="Orphanet:457378"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type" EXACT [Orphanet:457378] -synonym: "OCLSBG" RELATED ABBREVIATION [OMIM:616897] -synonym: "osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type" RELATED [OMIM:616897] -synonym: "osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type" RELATED [OMIM:616897] +synonym: "OCLSBG" RELATED ABBREVIATION [] +synonym: "osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type" RELATED [] +synonym: "osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type" RELATED [] xref: GARD:17807 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:457378", source="Orphanet:457378/attributed", source="Orphanet:457378/ntbt"} xref: MEDGEN:900688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -342925,7 +342988,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:261190"} subset: ordo_subtype_of_a_disorder {source="Orphanet:261190"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 15q14 deletion syndrome" RELATED [OMIM:616898] +synonym: "chromosome 15q14 deletion syndrome" RELATED [] synonym: "Del(15)(q14)" EXACT [Orphanet:261190] synonym: "monosomy 15q14" EXACT [Orphanet:261190] xref: GARD:17242 {source="MONDO:GARD"} @@ -342951,10 +343014,10 @@ subset: ordo_disorder {source="Orphanet:488632"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:488632"} subset: rare -synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 3" EXACT [OMIM:616900] -synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies type 3" EXACT [MONDORULE:1, OMIM:616900] -synonym: "IHPRF3" EXACT ABBREVIATION [OMIM:616900] -synonym: "TBCK-related intellectual disability syndrome" EXACT [Orphanet:488632] +synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 3" EXACT [DOID:0060935, OMIM:616900] +synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies type 3" EXACT [MONDORULE:1] +synonym: "IHPRF3" EXACT ABBREVIATION [DOID:0060935, OMIM:616900] +synonym: "TBCK-related intellectual disability syndrome" EXACT [DOID:0060935, Orphanet:488632] xref: DOID:0060935 {source="MONDO:equivalentTo"} xref: GARD:17896 {source="MONDO:GARD"} xref: MEDGEN:1798903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -342996,13 +343059,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014826 name: obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "nucleoside diphosphate-linked moiety X Motif 15 deficiency" EXACT [OMIM:616903] +synonym: "nucleoside diphosphate-linked moiety X Motif 15 deficiency" EXACT [] synonym: "nucleoside diphosphate-linked moiety X Motif 15 deficiency; NUDT15D" EXACT [] -synonym: "Nudt15 deficiency" RELATED [OMIM:616903] -synonym: "NUDT15D" EXACT ABBREVIATION [OMIM:616903] -synonym: "THIOPURINES, poor metabolism OF, 2" RELATED [OMIM:616903] -synonym: "Thiopurines, poor metabolism Of, 2" RELATED [OMIM:616903] -synonym: "THPM2" RELATED ABBREVIATION [OMIM:616903] +synonym: "Nudt15 deficiency" RELATED [] +synonym: "NUDT15D" EXACT ABBREVIATION [] +synonym: "THIOPURINES, poor metabolism OF, 2" RELATED [] +synonym: "Thiopurines, poor metabolism Of, 2" RELATED [] +synonym: "THPM2" RELATED ABBREVIATION [] xref: OMIM:616903 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -343020,8 +343083,8 @@ subset: rare synonym: "autosomal recessive complex spastic paraplegia caused by mutation in CAPN1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 76" EXACT [DOID:0110821] synonym: "CAPN1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hereditary spastic paraplegia 76" RELATED [DOID:0110821] -synonym: "hereditary spastic paraplegia type 76" EXACT [DOID:0110821, MONDORULE:2] +synonym: "hereditary spastic paraplegia 76" RELATED [] +synonym: "hereditary spastic paraplegia type 76" EXACT [MONDORULE:2] synonym: "spastic paraplegia 76, autosomal recessive" EXACT [OMIM:616907] synonym: "SPG76" EXACT ABBREVIATION [DOID:0110821, OMIM:616907, Orphanet:488594] xref: DOID:0110821 {source="MONDO:equivalentTo"} @@ -343045,12 +343108,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ICF syndrome 3" EXACT [DOID:0090010] -synonym: "ICF3" RELATED ABBREVIATION [OMIM:616910] -synonym: "immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3" RELATED [OMIM:616910] -synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome 3" EXACT [OMIM:616910] +synonym: "ICF3" RELATED ABBREVIATION [] +synonym: "immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3" RELATED [] +synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome 3" EXACT [DOID:0090010, OMIM:616910] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7" EXACT [MONDO:design_pattern] -synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 3" EXACT [MONDORULE:1, OMIM:616910] -synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 3" EXACT [DOID:0090010, MONDORULE:1] +synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 3" EXACT [MONDORULE:1] +synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 3" EXACT [MONDORULE:1] xref: DOID:0090010 {source="MONDO:equivalentTo"} xref: GARD:16168 {source="MONDO:GARD"} xref: ICD10CM:D84.8 {source="DOID:0090010"} @@ -343074,12 +343137,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "HELLS immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ICF syndrome 4" EXACT [DOID:0090011] -synonym: "ICF4" RELATED ABBREVIATION [OMIM:616911] -synonym: "immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4" RELATED [OMIM:616911] -synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome 4" EXACT [OMIM:616911] +synonym: "ICF4" RELATED ABBREVIATION [] +synonym: "immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4" RELATED [] +synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome 4" EXACT [DOID:0090011, OMIM:616911] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS" EXACT [MONDO:design_pattern] -synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 4" EXACT [MONDORULE:1, OMIM:616911] -synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 4" EXACT [DOID:0090011, MONDORULE:1] +synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 4" EXACT [MONDORULE:1] +synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 4" EXACT [MONDORULE:1] xref: DOID:0090011 {source="MONDO:equivalentTo"} xref: GARD:16169 {source="MONDO:GARD"} xref: ICD10CM:D84.8 {source="DOID:0090011"} @@ -343103,7 +343166,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:466806"} subset: orphanet_rare {source="Orphanet:466806"} subset: rare -synonym: "autosomal dominant thrombocytopenia with platelet secretion defect" EXACT [DOID:0111055] +synonym: "autosomal dominant thrombocytopenia with platelet secretion defect" EXACT [DOID:0111055, Orphanet:466806] synonym: "BDPLT20" EXACT ABBREVIATION [DOID:0111055, OMIM:616913] synonym: "bleeding disorder, platelet-type, 20" EXACT [OMIM:616913] synonym: "inherited bleeding disorder, platelet-type caused by mutation in SLFN14" EXACT [MONDO:design_pattern] @@ -343130,9 +343193,9 @@ subset: orphanet_rare {source="Orphanet:300382"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Marfan lipodystrophy syndrome" EXACT [OMIM:616914] -synonym: "Marfan-progeroid-lipodystrophy syndrome" RELATED [OMIM:616914] -synonym: "Marfanoid-progeroid syndrome" RELATED [OMIM:616914] -synonym: "MFLS" RELATED ABBREVIATION [OMIM:616914] +synonym: "Marfan-progeroid-lipodystrophy syndrome" RELATED [] +synonym: "Marfanoid-progeroid syndrome" RELATED [] +synonym: "MFLS" RELATED ABBREVIATION [] xref: GARD:17371 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="Orphanet:300382/attributed", source="Orphanet:300382/ntbt", source="Orphanet:300382"} xref: MEDGEN:934763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -343154,16 +343217,16 @@ subset: orphanet_rare {source="Orphanet:488635"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital disorder of glycosylation due to PIGG deficiency" EXACT [Orphanet:488635] -synonym: "early-onset epilepsy-intellectual disability-brain anomalies syndrome" EXACT [] +synonym: "early-onset epilepsy-intellectual disability-brain anomalies syndrome" EXACT [Orphanet:488635] synonym: "glycosylphosphatidylinositol biosynthesis defect 13" EXACT [OMIM:616917] -synonym: "GPIBD13" EXACT ABBREVIATION [OMIM:616917] -synonym: "intellectual developmental disorder, autosomal recessive 53" EXACT [OMIM:616917, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 53" EXACT [OMIM:616917] -synonym: "intellectual disability, autosomal recessive type 53" EXACT [MONDORULE:2, OMIM:616917] -synonym: "mental retardation, autosomal recessive 53" EXACT DEPRECATED [OMIM:616917] -synonym: "mental retardation, autosomal recessive type 53" EXACT DEPRECATED [MONDORULE:2, OMIM:616917] -synonym: "MRT53" EXACT ABBREVIATION [OMIM:616917] -synonym: "PIGG-CDG" EXACT [Orphanet:488635] +synonym: "GPIBD13" EXACT ABBREVIATION [] +synonym: "intellectual developmental disorder, autosomal recessive 53" EXACT [] +synonym: "intellectual disability, autosomal recessive 53" EXACT [] +synonym: "intellectual disability, autosomal recessive type 53" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 53" EXACT DEPRECATED [] +synonym: "mental retardation, autosomal recessive type 53" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT53" EXACT ABBREVIATION [] +synonym: "PIGG-CDG" EXACT ABBREVIATION [Orphanet:488635] xref: GARD:17897 {source="MONDO:GARD"} xref: MEDGEN:934761 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616917 {source="MONDO:equivalentTo", source="Orphanet:488635"} @@ -343208,11 +343271,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ADSD2" EXACT ABBREVIATION [OMIM:616922] synonym: "PDE10A striatal degeneration, autosomal dominant" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "striatal degeneration, autosomal dominant" BROAD [OMIM:616922, OMIM:genemap2] +synonym: "striatal degeneration, autosomal dominant" BROAD [] synonym: "striatal Degeneration, autosomal dominant 2" EXACT [OMIM:616922] synonym: "striatal degeneration, autosomal dominant 2; ADSD2" EXACT [] synonym: "striatal degeneration, autosomal dominant caused by mutation in PDE10A" EXACT [MONDO:design_pattern] -synonym: "striatal Degeneration, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:616922] +synonym: "striatal Degeneration, autosomal dominant type 2" EXACT [MONDORULE:1] xref: MEDGEN:934758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616922 {source="MONDO:equivalentTo"} xref: UMLS:C4310791 {source="MEDGEN:934758", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -343231,12 +343294,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Charcot-Marie-Tooth disease axonal type 2CC" EXACT CLINGEN_LABEL [] +synonym: "Charcot-Marie-Tooth disease axonal type 2CC" EXACT CLINGEN_LABEL [DOID:0110180] synonym: "Charcot-Marie-Tooth disease caused by mutation in NEFH" EXACT [MONDO:design_pattern] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2CC" RELATED [OMIM:616924] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2CC" RELATED [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2cc" EXACT [OMIM:616924] synonym: "Charcot-Marie-Tooth neuropathy type 2CC" EXACT [DOID:0110180] -synonym: "Charcot-Marie-Tooth neuropathy, type 2Cc" RELATED [OMIM:616924] +synonym: "Charcot-Marie-Tooth neuropathy, type 2Cc" RELATED [] synonym: "CMT2CC" EXACT ABBREVIATION [DOID:0110180, OMIM:616924] synonym: "NEFH Charcot-Marie-Tooth disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110180 {source="MONDO:equivalentTo"} @@ -343260,10 +343323,10 @@ subset: ordo_disorder {source="Orphanet:480851"} subset: orphanet_rare {source="Orphanet:480851"} subset: rare synonym: "hereditary thrombocytopenia with early-onset myelofibrosis" EXACT [Orphanet:480851] -synonym: "THC6" RELATED ABBREVIATION [OMIM:616937] +synonym: "THC6" RELATED ABBREVIATION [] synonym: "thrombocytopenia 6" EXACT [OMIM:616937] -synonym: "thrombocytopenia type 6" EXACT [MONDORULE:1, OMIM:616937] -synonym: "thrombocytopenia, autosomal dominant, 6" RELATED [OMIM:616937] +synonym: "thrombocytopenia type 6" EXACT [MONDORULE:1] +synonym: "thrombocytopenia, autosomal dominant, 6" RELATED [] xref: GARD:17870 {source="MONDO:GARD"} xref: MEDGEN:934756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616937 {source="MONDO:equivalentTo", source="Orphanet:480851"} @@ -343284,11 +343347,11 @@ def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:16170", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "COFFIN-SIRIS syndrome 5" RELATED [OMIM:616938] -synonym: "Coffin-Siris syndrome 5" EXACT [OMIM:616938] +synonym: "COFFIN-SIRIS syndrome 5" RELATED [] +synonym: "Coffin-Siris syndrome 5" EXACT [DOID:0112368, OMIM:616938] synonym: "Coffin-Siris syndrome caused by mutation in SMARCE1" EXACT [MONDO:design_pattern] -synonym: "Coffin-Siris syndrome type 5" EXACT [MONDORULE:1, OMIM:616938] -synonym: "CSS5" RELATED ABBREVIATION [OMIM:616938] +synonym: "Coffin-Siris syndrome type 5" EXACT [MONDORULE:1] +synonym: "CSS5" RELATED ABBREVIATION [] synonym: "SMARCE1 Coffin-Siris syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0112368 {source="MONDO:equivalentTo"} xref: GARD:16170 {source="MONDO:GARD"} @@ -343324,9 +343387,9 @@ def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mu subset: gard_rare {source="GARD:16171", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "agammaglobulinemia 8, autosomal dominant" EXACT [OMIM:616941] +synonym: "agammaglobulinemia 8, autosomal dominant" EXACT [] synonym: "agammaglobulinemia 8, autosomal dominant; AGM8" EXACT [] -synonym: "agammaglobulinemia, autosomal dominant, due to TCF3 defect" RELATED [OMIM:616941] +synonym: "agammaglobulinemia, autosomal dominant, due to TCF3 defect" RELATED [] synonym: "AGM8" EXACT ABBREVIATION [OMIM:616941] synonym: "autosomal agammaglobulinemia caused by mutation in TCF3" EXACT [MONDO:design_pattern] synonym: "TCF3 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -343352,7 +343415,7 @@ synonym: "GTF2E2 nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_patt synonym: "nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2" EXACT [MONDO:design_pattern] synonym: "trichothiodystrophy 6, nonphotosensitive" EXACT [OMIM:616943] synonym: "trichothiodystrophy 6, nonphotosensitive; TTD6" EXACT [] -synonym: "TTD6" EXACT ABBREVIATION [OMIM:616943] +synonym: "TTD6" EXACT ABBREVIATION [DOID:0111872, OMIM:616943] xref: DOID:0111872 {source="MONDO:equivalentTo"} xref: GARD:16172 {source="MONDO:GARD"} xref: MEDGEN:934752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -343371,14 +343434,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 41" EXACT [DOID:0070071] +synonym: "autosomal dominant intellectual disability 41" EXACT [] synonym: "autosomal dominant mental retardation 41" EXACT DEPRECATED [DOID:0070071] -synonym: "autosomal dominant non-syndromic intellectual disability 41" RELATED [DOID:0070071] +synonym: "autosomal dominant non-syndromic intellectual disability 41" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1" EXACT [MONDO:design_pattern] -synonym: "intellectual disability, autosomal dominant 41" EXACT CLINGEN_LABEL [OMIM:616944] -synonym: "intellectual disability, autosomal dominant type 41" EXACT [MONDORULE:2, OMIM:616944] +synonym: "intellectual disability, autosomal dominant 41" EXACT CLINGEN_LABEL [] +synonym: "intellectual disability, autosomal dominant type 41" EXACT [MONDORULE:2] synonym: "mental retardation, autosomal dominant 41" EXACT DEPRECATED [OMIM:616944] -synonym: "mental retardation, autosomal dominant type 41" EXACT DEPRECATED [MONDORULE:2, OMIM:616944] +synonym: "mental retardation, autosomal dominant type 41" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD41" EXACT ABBREVIATION [DOID:0070071, OMIM:616944] synonym: "TBL1XR1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070071 {source="MONDO:equivalentTo"} @@ -343402,7 +343465,7 @@ synonym: "ERCC6 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patt synonym: "POF11" EXACT ABBREVIATION [OMIM:616946] synonym: "premature ovarian failure 11" EXACT [OMIM:616946] synonym: "premature ovarian failure 11; POF11" EXACT [] -synonym: "premature ovarian failure type 11" EXACT [MONDORULE:2, OMIM:616946] +synonym: "premature ovarian failure type 11" EXACT [MONDORULE:2] synonym: "primary ovarian failure caused by mutation in ERCC6" EXACT [MONDO:design_pattern] xref: DOID:0080868 {source="MONDO:equivalentTo", source="MONDO:preferredEquivalent"} xref: DOID:0080869 {source="MONDO:equivalentTo"} @@ -343425,7 +343488,7 @@ subset: rare synonym: "POF12" EXACT ABBREVIATION [OMIM:616947] synonym: "premature ovarian failure 12" EXACT [OMIM:616947] synonym: "premature ovarian failure 12; POF12" EXACT [] -synonym: "premature ovarian failure type 12" EXACT [MONDORULE:2, OMIM:616947] +synonym: "premature ovarian failure type 12" EXACT [MONDORULE:2] synonym: "primary ovarian failure caused by mutation in SYCE1" EXACT [MONDO:design_pattern] synonym: "SYCE1 primary ovarian failure" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:934749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -343445,10 +343508,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive cerebellar ataxia caused by mutation in VWA3B" EXACT [MONDO:design_pattern] -synonym: "SCAR22" EXACT ABBREVIATION [OMIM:616948] +synonym: "SCAR22" EXACT ABBREVIATION [DOID:0111614, OMIM:616948] synonym: "spinocerebellar ataxia, autosomal recessive 22" EXACT [OMIM:616948] synonym: "spinocerebellar ataxia, autosomal recessive 22; SCAR22" EXACT [] -synonym: "spinocerebellar ataxia, autosomal recessive type 22" EXACT [MONDORULE:2, OMIM:616948] +synonym: "spinocerebellar ataxia, autosomal recessive type 22" EXACT [MONDORULE:2] synonym: "VWA3B autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111614 {source="MONDO:equivalentTo"} xref: MEDGEN:934748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -343468,11 +343531,11 @@ subset: ordo_disorder {source="Orphanet:404493"} subset: orphanet_rare {source="Orphanet:404493"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency" EXACT [Orphanet:404493] -synonym: "SCAR23" EXACT ABBREVIATION [OMIM:616949, Orphanet:404493] +synonym: "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency" EXACT [] +synonym: "SCAR23" EXACT ABBREVIATION [DOID:0111613, OMIM:616949, Orphanet:404493] synonym: "spinocerebellar ataxia autosomal recessive type 23" EXACT [Orphanet:404493] synonym: "spinocerebellar ataxia, autosomal recessive 23" EXACT [OMIM:616949] -synonym: "spinocerebellar ataxia, autosomal recessive type 23" EXACT [MONDORULE:2, OMIM:616949] +synonym: "spinocerebellar ataxia, autosomal recessive type 23" EXACT [MONDORULE:2] xref: DOID:0111613 {source="MONDO:equivalentTo"} xref: GARD:17677 {source="MONDO:GARD"} xref: ICD10CM:G11.1 {source="Orphanet:404493", source="Orphanet:404493/attributed", source="Orphanet:404493/ntbt"} @@ -343491,10 +343554,10 @@ subset: gard_rare {source="GARD:16173", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "azoospermia caused by mutation in SYCE1" EXACT [MONDO:design_pattern] -synonym: "spermatogenic failure 15" EXACT [OMIM:616950] +synonym: "spermatogenic failure 15" EXACT [DOID:0070172, OMIM:616950] synonym: "spermatogenic failure 15; SPGF15" EXACT [] -synonym: "spermatogenic failure type 15" EXACT [MONDORULE:2, OMIM:616950] -synonym: "SPGF15" EXACT ABBREVIATION [OMIM:616950] +synonym: "spermatogenic failure type 15" EXACT [MONDORULE:2] +synonym: "SPGF15" EXACT ABBREVIATION [DOID:0070172, OMIM:616950] synonym: "SYCE1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070172 {source="MONDO:equivalentTo"} xref: GARD:16173 {source="MONDO:GARD"} @@ -343518,7 +343581,7 @@ subset: ordo_disorder {source="Orphanet:488642"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:488642"} subset: rare -synonym: "YHFS" RELATED ABBREVIATION [OMIM:616954] +synonym: "YHFS" RELATED ABBREVIATION [] synonym: "you-Hoover-Fong syndrome" EXACT [OMIM:616954, Orphanet:488642] xref: GARD:17898 {source="MONDO:GARD"} xref: MEDGEN:934745 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -343576,7 +343639,7 @@ synonym: "autosomal recessive infantile hypercalcemia caused by mutation in SLC3 synonym: "HCINF2" EXACT ABBREVIATION [OMIM:616963] synonym: "hypercalcemia, infantile 2" EXACT CLINGEN_LABEL [] synonym: "hypercalcemia, infantile, 2" EXACT [OMIM:616963] -synonym: "hypercalcemia, infantile, type 2" EXACT [MONDORULE:1, OMIM:616963] +synonym: "hypercalcemia, infantile, type 2" EXACT [MONDORULE:1] synonym: "SLC34A1 autosomal recessive infantile hypercalcemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18435 {source="MONDO:GARD"} xref: MEDGEN:934441 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -343603,14 +343666,14 @@ subset: gard_rare {source="GARD:18145", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant deafness 70" NARROW [DOID:0110592] -synonym: "autosomal dominant nonsyndromic deafness 70" NARROW [OMIM:616968] +synonym: "autosomal dominant deafness 70" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 70" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MCM2" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 70" NARROW [DOID:0110592, MONDORULE:2] +synonym: "autosomal dominant nonsyndromic deafness type 70" NARROW [MONDORULE:2] synonym: "autosomal dominant nonsyndromic hearing loss 70" EXACT CLINGEN_LABEL [] -synonym: "deafness, autosomal dominant 70" NARROW [OMIM:616968, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 70" NARROW [MONDORULE:2, OMIM:616968] -synonym: "DFNA70" NARROW ABBREVIATION [DOID:0110592, OMIM:616968] +synonym: "deafness, autosomal dominant 70" NARROW [] +synonym: "deafness, autosomal dominant type 70" NARROW [MONDORULE:2] +synonym: "DFNA70" NARROW ABBREVIATION [] synonym: "MCM2 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110592 {source="MONDO:equivalentTo"} xref: GARD:18145 {source="MONDO:GARD"} @@ -343632,14 +343695,14 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis subset: gard_rare {source="GARD:18146", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant deafness 66" NARROW [DOID:0110587] -synonym: "autosomal dominant nonsyndromic deafness 66" NARROW [OMIM:616969] +synonym: "autosomal dominant deafness 66" NARROW [] +synonym: "autosomal dominant nonsyndromic deafness 66" NARROW [] synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CD164" NARROW [MONDO:design_pattern] -synonym: "autosomal dominant nonsyndromic deafness type 66" NARROW [DOID:0110587, MONDORULE:2] +synonym: "autosomal dominant nonsyndromic deafness type 66" NARROW [MONDORULE:2] synonym: "CD164 autosomal dominant nonsyndromic deafness" NARROW [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deafness, autosomal dominant 66" NARROW [OMIM:616969, OMIM:genemap2] -synonym: "deafness, autosomal dominant type 66" NARROW [MONDORULE:2, OMIM:616969] -synonym: "DFNA66" NARROW ABBREVIATION [DOID:0110587, OMIM:616969] +synonym: "deafness, autosomal dominant 66" NARROW [] +synonym: "deafness, autosomal dominant type 66" NARROW [MONDORULE:2] +synonym: "DFNA66" NARROW ABBREVIATION [] xref: DOID:0110587 {source="MONDO:equivalentTo"} xref: GARD:18146 {source="MONDO:GARD"} xref: ICD10CM:H90.3 {source="DOID:0110587"} @@ -343661,19 +343724,19 @@ subset: gard_rare {source="GARD:18501", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome subset: rare -synonym: "autosomal dominant intellectual disability 42" EXACT [DOID:0070072] +synonym: "autosomal dominant intellectual disability 42" EXACT [] synonym: "autosomal dominant mental retardation 42" EXACT DEPRECATED [DOID:0070072] -synonym: "autosomal dominant non-syndromic intellectual disability 42" RELATED [DOID:0070072] +synonym: "autosomal dominant non-syndromic intellectual disability 42" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1" EXACT [MONDO:design_pattern] -synonym: "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" EXACT [MONDO:0024252] +synonym: "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" EXACT [MONDO:0024252, Orphanet:488613] synonym: "GNB1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GNB1-related disorder" BROAD [https://rarediseases.org/rare-diseases/gnb1-related-disorder/] synonym: "GNB1-related neurodevelopmental disorder" EXACT [https://clinicalgenome.org/affiliation/40006/] -synonym: "intellectual developmental disorder, autosomal dominant 42" EXACT [OMIM:616973, OMIM:genemap2] -synonym: "intellectual disability, autosomal dominant 42" EXACT CLINGEN_LABEL [OMIM:616973] -synonym: "intellectual disability, autosomal dominant type 42" EXACT [MONDORULE:2, OMIM:616973] +synonym: "intellectual developmental disorder, autosomal dominant 42" EXACT [OMIM:616973] +synonym: "intellectual disability, autosomal dominant 42" EXACT CLINGEN_LABEL [] +synonym: "intellectual disability, autosomal dominant type 42" EXACT [MONDORULE:2] synonym: "mental retardation, autosomal dominant 42" EXACT DEPRECATED [OMIM:616973] -synonym: "mental retardation, autosomal dominant type 42" EXACT DEPRECATED [MONDORULE:2, OMIM:616973] +synonym: "mental retardation, autosomal dominant type 42" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD42" EXACT ABBREVIATION [DOID:0070072, OMIM:616973] xref: DOID:0070072 {source="MONDO:equivalentTo"} xref: GARD:18501 {source="MONDO:GARD"} @@ -343705,10 +343768,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:478042"} subset: orphanet_rare {source="Orphanet:478042"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 30" EXACT [OMIM:616974] +synonym: "combined oxidative phosphorylation deficiency 30" EXACT [DOID:0111471, OMIM:616974] synonym: "combined oxidative phosphorylation deficiency caused by mutation in TRMT10C" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 30" EXACT [MONDORULE:2, OMIM:616974] -synonym: "COXPD30" EXACT ABBREVIATION [OMIM:616974, Orphanet:478042] +synonym: "combined oxidative phosphorylation deficiency type 30" EXACT [MONDORULE:2] +synonym: "COXPD30" EXACT ABBREVIATION [DOID:0111471, OMIM:616974, Orphanet:478042] synonym: "TRMT10C combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111471 {source="MONDO:equivalentTo"} xref: GARD:17864 {source="MONDO:GARD"} @@ -343754,17 +343817,17 @@ subset: gard_rare {source="GARD:13179", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 43" EXACT [DOID:0070073] +synonym: "autosomal dominant intellectual disability 43" EXACT [] synonym: "autosomal dominant intellectual disability-43" RELATED [GARD:0013179] synonym: "autosomal dominant mental retardation 43" EXACT DEPRECATED [DOID:0070073] -synonym: "autosomal dominant non-syndromic intellectual disability 43" RELATED [DOID:0070073] +synonym: "autosomal dominant non-syndromic intellectual disability 43" RELATED [] synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2" EXACT [MONDO:design_pattern] synonym: "HIVEP2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "HIVEP2-related intellectual disability" RELATED [GARD:0013179] -synonym: "intellectual disability, autosomal dominant 43" EXACT CLINGEN_LABEL [OMIM:616977] -synonym: "intellectual disability, autosomal dominant type 43" EXACT [MONDORULE:2, OMIM:616977] -synonym: "mental retardation, autosomal dominant 43" EXACT DEPRECATED [OMIM:616977] -synonym: "mental retardation, autosomal dominant type 43" EXACT DEPRECATED [MONDORULE:2, OMIM:616977] +synonym: "intellectual disability, autosomal dominant 43" EXACT CLINGEN_LABEL [] +synonym: "intellectual disability, autosomal dominant type 43" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal dominant 43" EXACT DEPRECATED [] +synonym: "mental retardation, autosomal dominant type 43" EXACT DEPRECATED [MONDORULE:2] synonym: "MRD43" EXACT ABBREVIATION [DOID:0070073, OMIM:616977] xref: DOID:0070073 {source="MONDO:equivalentTo"} xref: GARD:13179 {source="MONDO:GARD"} @@ -343785,13 +343848,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE37" EXACT ABBREVIATION [OMIM:616981] -synonym: "developmental and epileptic encephalopathy 37" EXACT [OMIM:616981, OMIM:genemap2] +synonym: "DEE37" EXACT ABBREVIATION [DOID:0080435, OMIM:616981] +synonym: "developmental and epileptic encephalopathy 37" EXACT [DOID:0080435, OMIM:616981] synonym: "early infantile epileptic encephalopathy caused by mutation in FRRS1L" EXACT [MONDO:design_pattern] -synonym: "EIEE37" EXACT ABBREVIATION [OMIM:616981] +synonym: "EIEE37" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 37" EXACT [OMIM:616981] synonym: "epileptic encephalopathy, early infantile, 37; EIEE37" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 37" EXACT [MONDORULE:2, OMIM:616981] +synonym: "epileptic encephalopathy, early infantile, type 37" EXACT [MONDORULE:2] synonym: "FRRS1L early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080435 {source="MONDO:equivalentTo"} xref: MEDGEN:934737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -343811,10 +343874,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:16174", source="MONDO:GARD"} subset: rare synonym: "PCLD2" EXACT ABBREVIATION [OMIM:617004] -synonym: "polycystic liver disease 2" EXACT CLINGEN_LABEL [OMIM:617004] -synonym: "polycystic liver disease 2 with or without kidney cysts" RELATED [OMIM:617004] +synonym: "polycystic liver disease 2" EXACT CLINGEN_LABEL [DOID:0060975] +synonym: "polycystic liver disease 2 with or without kidney cysts" RELATED [] synonym: "polycystic liver disease 2; PCLD2" EXACT [] -synonym: "polycystic liver disease type 2" EXACT [MONDORULE:1, OMIM:617004] +synonym: "polycystic liver disease type 2" EXACT [MONDORULE:1] xref: DOID:0060975 {source="MONDO:equivalentTo"} xref: GARD:16174 {source="MONDO:GARD"} xref: MEDGEN:934736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -343834,7 +343897,7 @@ synonym: "ADMIO2" EXACT ABBREVIATION [OMIM:617006] synonym: "autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70" EXACT [MONDO:design_pattern] synonym: "autoimmune disease, multisystem, infantile-onset, 2" EXACT [OMIM:617006] synonym: "autoimmune disease, multisystem, infantile-onset, 2; ADMIO2" EXACT [] -synonym: "autoimmune disease, multisystem, infantile-onset, type 2" EXACT [MONDORULE:1, OMIM:617006] +synonym: "autoimmune disease, multisystem, infantile-onset, type 2" EXACT [MONDORULE:1] synonym: "ZAP70 autoimmune disease, multisystem, infantile-onset" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:934735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617006 {source="MONDO:equivalentTo"} @@ -343853,8 +343916,8 @@ subset: rare synonym: "ADD3 spastic quadriplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "cerebral palsy, spastic quadriplegic, 3" EXACT [OMIM:617008] synonym: "cerebral palsy, spastic quadriplegic, 3; CPSQ3" EXACT [] -synonym: "cerebral palsy, spastic quadriplegic, type 3" EXACT [MONDORULE:1, OMIM:617008] -synonym: "CPSQ3" EXACT ABBREVIATION [OMIM:617008] +synonym: "cerebral palsy, spastic quadriplegic, type 3" EXACT [MONDORULE:1] +synonym: "CPSQ3" EXACT ABBREVIATION [DOID:0081361, OMIM:617008] synonym: "spastic quadriplegia caused by mutation in ADD3" EXACT [MONDO:design_pattern] xref: DOID:0081361 {source="MONDO:equivalentTo"} xref: GARD:18310 {source="MONDO:GARD"} @@ -343890,10 +343953,10 @@ subset: ordo_disorder {source="Orphanet:521406"} subset: orphanet_rare {source="Orphanet:521406"} subset: rare synonym: "HMNDYT2" EXACT ABBREVIATION [OMIM:617013] -synonym: "hypermanganesemia with dystonia 2" EXACT [OMIM:617013] +synonym: "hypermanganesemia with dystonia 2" EXACT [DOID:0080537, OMIM:617013] synonym: "hypermanganesemia with dystonia 2; HMNDYT2" EXACT [] synonym: "hypermanganesemia with dystonia caused by mutation in SLC39A14" EXACT [MONDO:design_pattern] -synonym: "hypermanganesemia with dystonia type 2" EXACT [MONDORULE:1, OMIM:617013] +synonym: "hypermanganesemia with dystonia type 2" EXACT [MONDORULE:1] synonym: "SLC39A14 hypermanganesemia with dystonia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080537 {source="MONDO:equivalentTo"} xref: GARD:17958 {source="MONDO:GARD"} @@ -343922,8 +343985,8 @@ subset: orphanet_rare {source="Orphanet:420702"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "neutropenia, Severe congenital, 7, autosomal recessive" EXACT [OMIM:617014] -synonym: "neutropenia, severe congenital, 7, autosomal recessive" RELATED [OMIM:617014] -synonym: "SCN7" RELATED ABBREVIATION [OMIM:617014] +synonym: "neutropenia, severe congenital, 7, autosomal recessive" RELATED [] +synonym: "SCN7" RELATED ABBREVIATION [] xref: DOID:0112129 {source="MONDO:equivalentTo"} xref: GARD:17698 {source="MONDO:GARD"} xref: ICD10CM:D70 {source="Orphanet:420702", source="Orphanet:420702/attributed", source="Orphanet:420702/ntbt"} @@ -343949,14 +344012,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:443950"} subset: orphanet_rare {source="Orphanet:443950"} subset: rare -synonym: "AR-CMT2T" RELATED [DOID:0110160] -synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T" RELATED [DOID:0110160] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T" RELATED [OMIM:617017] +synonym: "AR-CMT2T" RELATED [] +synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T" RELATED [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2T" EXACT [OMIM:617017] synonym: "Charcot-Marie-Tooth neuropathy type 2T" EXACT [DOID:0110160] -synonym: "Charcot-Marie-Tooth neuropathy, type 2T" RELATED [OMIM:617017] -synonym: "CMT2T" EXACT ABBREVIATION [DOID:0110160, OMIM:617017, Orphanet:443950] -synonym: "DNAJB2-related Charcot-Marie-Tooth disease type 2" RELATED [Orphanet:443950] +synonym: "Charcot-Marie-Tooth neuropathy, type 2T" RELATED [] +synonym: "CMT2T" EXACT ABBREVIATION [DOID:0110160, OMIM:617017] +synonym: "DNAJB2-related Charcot-Marie-Tooth disease type 2" RELATED [] synonym: "DNAJB2-related CMT2" EXACT [Orphanet:443950] xref: DOID:0110160 {source="MONDO:equivalentTo"} xref: GARD:18653 {source="MONDO:GARD"} @@ -343984,10 +344047,10 @@ subset: orphanet_rare {source="Orphanet:497764"} subset: rare synonym: "autosomal dominant cerebellar ataxia caused by mutation in MME" EXACT [MONDO:design_pattern] synonym: "MME autosomal dominant cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SCA43" EXACT ABBREVIATION [OMIM:617018] +synonym: "SCA43" EXACT ABBREVIATION [DOID:0111745, OMIM:617018, Orphanet:497764] synonym: "spinocerebellar ataxia 43" EXACT [OMIM:617018] synonym: "spinocerebellar ataxia 43; SCA43" EXACT [] -synonym: "spinocerebellar ataxia type 43" EXACT [MONDORULE:2, OMIM:617018] +synonym: "spinocerebellar ataxia type 43" EXACT [MONDORULE:2, Orphanet:497764] xref: DOID:0111745 {source="MONDO:equivalentTo"} xref: GARD:17917 {source="MONDO:GARD"} xref: MEDGEN:934730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -344007,13 +344070,13 @@ subset: gard_rare {source="GARD:16175", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARV1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DEE38" EXACT ABBREVIATION [OMIM:617020] -synonym: "developmental and epileptic encephalopathy 38" EXACT [OMIM:617020, OMIM:genemap2] +synonym: "DEE38" EXACT ABBREVIATION [DOID:0080417, OMIM:617020] +synonym: "developmental and epileptic encephalopathy 38" EXACT [DOID:0080417, OMIM:617020] synonym: "early infantile epileptic encephalopathy caused by mutation in ARV1" EXACT [MONDO:design_pattern] -synonym: "EIEE38" EXACT ABBREVIATION [OMIM:617020] +synonym: "EIEE38" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 38" EXACT [OMIM:617020] synonym: "epileptic encephalopathy, early infantile, 38; EIEE38" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 38" EXACT [MONDORULE:2, OMIM:617020] +synonym: "epileptic encephalopathy, early infantile, type 38" EXACT [MONDORULE:2] xref: DOID:0080417 {source="MONDO:equivalentTo"} xref: GARD:16175 {source="MONDO:GARD"} xref: MEDGEN:934729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -344057,7 +344120,7 @@ subset: orphanet_rare {source="Orphanet:464366"} subset: rare synonym: "LCCS10" EXACT ABBREVIATION [OMIM:617022] synonym: "lethal congenital contracture syndrome 10" EXACT [OMIM:617022] -synonym: "lethal congenital contracture syndrome type 10" EXACT [MONDORULE:2, OMIM:617022] +synonym: "lethal congenital contracture syndrome type 10" EXACT [MONDORULE:2] synonym: "lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome" EXACT [Orphanet:464366] xref: GARD:17818 {source="MONDO:GARD"} xref: ICD10CM:Q77.2 {source="Orphanet:464366", source="Orphanet:464366/attributed", source="Orphanet:464366/ntbt"} @@ -344078,9 +344141,9 @@ subset: gard_rare {source="GARD:16176", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AGBL5 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 75" EXACT [OMIM:617023] +synonym: "retinitis pigmentosa 75" EXACT [DOID:0110361, OMIM:617023] synonym: "retinitis pigmentosa caused by mutation in AGBL5" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 75" EXACT [DOID:0110361, MONDORULE:2, OMIM:617023] +synonym: "retinitis pigmentosa type 75" EXACT [MONDORULE:2] synonym: "RP75" EXACT ABBREVIATION [DOID:0110361, OMIM:617023] xref: DOID:0110361 {source="MONDO:equivalentTo"} xref: GARD:16176 {source="MONDO:GARD"} @@ -344127,10 +344190,10 @@ subset: rare synonym: "acne Nevus" EXACT [NCIT:C3946] synonym: "acneiform Nevus" EXACT [NCIT:C3946] synonym: "comedo Nevus" EXACT [NCIT:C3946] -synonym: "NC" RELATED ABBREVIATION [OMIM:617025] -synonym: "NEVUS comedonicus" RELATED [OMIM:617025] -synonym: "Nevus comedonicus" EXACT [OMIM:617025] -synonym: "nevus comedonicus, somatic" EXACT [OMIM:617025, OMIM:genemap2] +synonym: "NC" RELATED ABBREVIATION [] +synonym: "NEVUS comedonicus" RELATED [] +synonym: "Nevus comedonicus" EXACT [NCIT:C3946, OMIM:617025] +synonym: "nevus comedonicus, somatic" EXACT [] synonym: "pilosebaceous nevoid disorder" EXACT [NCIT:C3946] xref: GARD:13073 {source="MONDO:GARD"} xref: ICD10CM:Q82.5 {source="Orphanet:64754/ntbt", source="Orphanet:64754", source="Orphanet:64754/index"} @@ -344154,7 +344217,7 @@ subset: gard_rare {source="GARD:16178", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15" EXACT [MONDO:design_pattern] -synonym: "PCH2F" EXACT ABBREVIATION [OMIM:617026] +synonym: "PCH2F" EXACT ABBREVIATION [DOID:0112329, OMIM:617026] synonym: "pontocerebellar hypoplasia, type 2F" EXACT [OMIM:617026] synonym: "pontocerebellar hypoplasia, type 2F; PCH2F" EXACT [] synonym: "TSEN15 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -344177,12 +344240,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:642671"} subset: orphanet_rare {source="Orphanet:642671"} subset: rare -synonym: "aldosteronism, primary, and hypertension" RELATED [OMIM:617027] +synonym: "aldosteronism, primary, and hypertension" RELATED [] synonym: "familial hyperaldosteronism type IV" EXACT [Orphanet:642671] -synonym: "FH 4" RELATED [OMIM:617027] +synonym: "FH 4" RELATED [] synonym: "HALD4" EXACT ABBREVIATION [OMIM:617027] -synonym: "hyperaldosteronism, familial, type 4" RELATED [OMIM:617027] -synonym: "hyperaldosteronism, familial, type IV" EXACT [OMIM:617027] +synonym: "hyperaldosteronism, familial, type 4" RELATED [] +synonym: "hyperaldosteronism, familial, type IV" EXACT [] synonym: "hyperaldosteronism, familial, type IV; HALD4" EXACT [] xref: MEDGEN:934723 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617027 {source="MONDO:equivalentTo"} @@ -344199,11 +344262,11 @@ subset: gard_rare {source="GARD:22573", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK" EXACT [MONDO:design_pattern] -synonym: "intellectual developmental disorder 54" EXACT [OMIM:617028, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 54" EXACT [OMIM:617028] -synonym: "intellectual disability, autosomal recessive type 54" EXACT [MONDORULE:2, OMIM:617028] +synonym: "intellectual developmental disorder 54" EXACT [] +synonym: "intellectual disability, autosomal recessive 54" EXACT [] +synonym: "intellectual disability, autosomal recessive type 54" EXACT [MONDORULE:2] synonym: "mental retardation, autosomal recessive 54" EXACT DEPRECATED [OMIM:617028] -synonym: "mental retardation, autosomal recessive type 54" EXACT DEPRECATED [MONDORULE:2, OMIM:617028] +synonym: "mental retardation, autosomal recessive type 54" EXACT DEPRECATED [MONDORULE:2] synonym: "MRT54" EXACT ABBREVIATION [OMIM:617028] synonym: "TNIK autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081216 {source="MONDO:equivalentTo"} @@ -344226,13 +344289,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:482601"} subset: orphanet_rare {source="Orphanet:482601"} subset: rare -synonym: "adenylosuccinate synthetase-like 1-related distal myopathy" EXACT [MONDO:0018834] +synonym: "adenylosuccinate synthetase-like 1-related distal myopathy" EXACT [MONDO:0018834, Orphanet:482601] synonym: "ADSSL1 distal myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ADSSL1-related distal myopathy" EXACT [Orphanet:482601] synonym: "distal myopathy caused by mutation in ADSSL1" EXACT [MONDO:design_pattern] synonym: "MPD5" EXACT ABBREVIATION [OMIM:617030] synonym: "myopathy, distal, 5; MPD5" EXACT [] -synonym: "myopathy, distal, type 5" EXACT [MONDORULE:1, OMIM:617030] +synonym: "myopathy, distal, type 5" EXACT [MONDORULE:1] xref: GARD:17878 {source="MONDO:GARD"} xref: MEDGEN:1798944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617030 {source="MONDO:equivalentTo"} @@ -344253,7 +344316,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "patent ductus arteriosus 2" EXACT [OMIM:617035] synonym: "patent ductus arteriosus 2; PDA2" EXACT [] -synonym: "patent ductus arteriosus type 2" EXACT [MONDORULE:1, OMIM:617035] +synonym: "patent ductus arteriosus type 2" EXACT [MONDORULE:1] synonym: "PDA2" EXACT ABBREVIATION [OMIM:617035] xref: GARD:18489 {source="MONDO:GARD"} xref: MEDGEN:924886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -344301,10 +344364,10 @@ subset: ordo_disorder {source="Orphanet:488618"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:488618"} subset: rare -synonym: "SDDHD" RELATED ABBREVIATION [OMIM:617044] -synonym: "short stature, developmental delay, and congenital heart defects" RELATED [OMIM:617044] +synonym: "SDDHD" RELATED ABBREVIATION [] +synonym: "short stature, developmental delay, and congenital heart defects" RELATED [] synonym: "short stature-developmental delay-congenital heart defect syndrome" EXACT [Orphanet:488618] -synonym: "TKT deficiency" EXACT [Orphanet:488618] +synonym: "TKT deficiency" EXACT [OMIM:617044, Orphanet:488618] xref: GARD:17894 {source="MONDO:GARD"} xref: MEDGEN:1814561 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617044 {source="MONDO:equivalentTo", source="Orphanet:488618"} @@ -344330,10 +344393,10 @@ subset: orphanet_rare {source="Orphanet:466722"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive spastic paraplegia 77" EXACT [DOID:0110822] -synonym: "autosomal recessive spastic paraplegia type 77" RELATED [Orphanet:466722] +synonym: "autosomal recessive spastic paraplegia type 77" RELATED [] synonym: "FARS2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hereditary spastic paraplegia caused by mutation in FARS2" EXACT [MONDO:design_pattern] -synonym: "hereditary spastic paraplegia type 77" EXACT [DOID:0110822, MONDORULE:2] +synonym: "hereditary spastic paraplegia type 77" EXACT [MONDORULE:2] synonym: "spastic paraplegia 77, autosomal recessive" EXACT [OMIM:617046] synonym: "SPG77" EXACT ABBREVIATION [DOID:0110822, OMIM:617046, Orphanet:466722] xref: DOID:0110822 {source="MONDO:equivalentTo"} @@ -344359,13 +344422,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathy familial hypertrophic 26" EXACT [DOID:0110327] synonym: "cardiomyopathy, familial hypertrophic, 26" EXACT [OMIM:617047] -synonym: "cardiomyopathy, familial hypertrophic, type 26" EXACT [MONDORULE:2, OMIM:617047] -synonym: "cardiomyopathy, familial restrictive 5" EXACT [OMIM:617047, OMIM:genemap2] -synonym: "cardiomyopathy, familial restrictive, 5" RELATED [OMIM:617047] +synonym: "cardiomyopathy, familial hypertrophic, type 26" EXACT [MONDORULE:2] +synonym: "cardiomyopathy, familial restrictive 5" EXACT [] +synonym: "cardiomyopathy, familial restrictive, 5" RELATED [] synonym: "CMH26" EXACT ABBREVIATION [DOID:0110327, OMIM:617047] synonym: "FLNC hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "hypertrophic cardiomyopathy caused by mutation in FLNC" EXACT [MONDO:design_pattern] -synonym: "hypertrophic cardiomyopathy type 26" EXACT [DOID:0110327, MONDORULE:2] +synonym: "hypertrophic cardiomyopathy type 26" EXACT [MONDORULE:2] xref: DOID:0110327 {source="MONDO:equivalentTo"} xref: MEDGEN:934716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617047 {source="DOID:0110327", source="MONDO:equivalentTo"} @@ -344388,10 +344451,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:480476"} subset: rare synonym: "cholestasis, progressive familial intrahepatic, 5" EXACT [OMIM:617049] synonym: "cholestasis, progressive familial intrahepatic, 5; PFIC5" EXACT [] -synonym: "cholestasis, progressive familial intrahepatic, type 5" EXACT [MONDORULE:1, OMIM:617049] -synonym: "NR1H4 deficiency" EXACT [Orphanet:480476] +synonym: "cholestasis, progressive familial intrahepatic, type 5" EXACT [MONDORULE:1] +synonym: "NR1H4 deficiency" EXACT [DOID:0070225, Orphanet:480476] synonym: "NR1H4 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PFIC5" EXACT ABBREVIATION [OMIM:617049, Orphanet:480476] +synonym: "PFIC5" EXACT ABBREVIATION [DOID:0070225, OMIM:617049, Orphanet:480476] synonym: "progressive familial intrahepatic cholestasis caused by mutation in NR1H4" EXACT [MONDO:design_pattern] xref: DOID:0070225 {source="MONDO:equivalentTo"} xref: GARD:17867 {source="MONDO:GARD"} @@ -344420,8 +344483,8 @@ synonym: "AP3D1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern, MONDO:pa synonym: "Hermansky-Pudlak syndrome 10" EXACT CLINGEN_LABEL [OMIM:617050] synonym: "Hermansky-Pudlak syndrome 10; HPS10" EXACT [] synonym: "Hermansky-Pudlak syndrome caused by mutation in AP3D1" EXACT [MONDO:design_pattern] -synonym: "Hermansky-Pudlak syndrome type 10" EXACT [MONDORULE:2, OMIM:617050] -synonym: "HPS10" EXACT ABBREVIATION [OMIM:617050] +synonym: "Hermansky-Pudlak syndrome type 10" EXACT [MONDORULE:2, Orphanet:664511] +synonym: "HPS10" EXACT ABBREVIATION [OMIM:617050, Orphanet:664511] xref: GARD:16180 {source="MONDO:GARD"} xref: MEDGEN:934713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617050 {source="MONDO:equivalentTo"} @@ -344442,12 +344505,12 @@ subset: ordo_disorder {source="Orphanet:488627"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:488627"} subset: rare -synonym: "intellectual disability, autosomal recessive 55" EXACT [OMIM:617051] -synonym: "intellectual disability, autosomal recessive type 55" EXACT [MONDORULE:2, OMIM:617051] -synonym: "mental retardation, autosomal recessive 55" EXACT DEPRECATED [OMIM:617051] -synonym: "mental retardation, autosomal recessive type 55" EXACT DEPRECATED [MONDORULE:2, OMIM:617051] -synonym: "MRT55" EXACT ABBREVIATION [OMIM:617051] -synonym: "neurodevelopmental disorder with microcephaly and gray sclerae" EXACT [OMIM:617051, OMIM:genemap2] +synonym: "intellectual disability, autosomal recessive 55" EXACT [] +synonym: "intellectual disability, autosomal recessive type 55" EXACT [MONDORULE:2] +synonym: "mental retardation, autosomal recessive 55" EXACT DEPRECATED [] +synonym: "mental retardation, autosomal recessive type 55" EXACT DEPRECATED [MONDORULE:2] +synonym: "MRT55" EXACT ABBREVIATION [] +synonym: "neurodevelopmental disorder with microcephaly and gray sclerae" EXACT [OMIM:617051] synonym: "neurodevelopmental disorder with microcephaly and grey sclerae" EXACT OMO:0003005 [] xref: GARD:17895 {source="MONDO:GARD"} xref: MEDGEN:934712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -344472,7 +344535,7 @@ subset: rare synonym: "BMFS3" EXACT ABBREVIATION [OMIM:617052] synonym: "bone marrow failure syndrome 3" EXACT [OMIM:617052] synonym: "bone marrow failure syndrome caused by mutation in DNAJC21" EXACT [MONDO:design_pattern] -synonym: "bone marrow failure syndrome type 3" EXACT [MONDORULE:1, OMIM:617052] +synonym: "bone marrow failure syndrome type 3" EXACT [MONDORULE:1] synonym: "DNAJC21 bone marrow failure syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:934711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617052 {source="MONDO:equivalentTo"} @@ -344493,8 +344556,9 @@ subset: ordo_disorder {source="Orphanet:494433"} subset: orphanet_rare {source="Orphanet:494433"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mirage" EXACT [OMIM:617053] -synonym: "mirage syndrome" EXACT [NCIT:C147530, OMIM:617053] +synonym: "MIRAGE" EXACT ABBREVIATION [OMIM:617053] +synonym: "mirage" EXACT [] +synonym: "mirage syndrome" EXACT [NCIT:C147530, OMIM:617053, Orphanet:494433] synonym: "myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy" EXACT [GARD:0013108, NCIT:C147530, OMIM:617053] synonym: "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome" EXACT [Orphanet:494433] synonym: "myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome" EXACT [Orphanet:494433] @@ -344518,7 +344582,7 @@ subset: orphanet_rare {source="Orphanet:497906"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "childhood-onset basal ganglia degeneration syndrome" EXACT [Orphanet:497906] -synonym: "Lenk-Ploski syndrome" EXACT [Orphanet:497906] +synonym: "Lenk-Ploski syndrome" EXACT [OMIM:617054, Orphanet:497906] synonym: "SNDC" EXACT ABBREVIATION [OMIM:617054] synonym: "striatonigral Degeneration, childhood-onset" EXACT [OMIM:617054] synonym: "striatonigral degeneration, childhood-onset; SNDC" EXACT [] @@ -344543,16 +344607,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:603684"} subset: orphanet_rare {source="Orphanet:603684"} subset: rare -synonym: "CISS3" EXACT ABBREVIATION [OMIM:617055] -synonym: "cold-induced sweating syndrome 3" EXACT [OMIM:617055] +synonym: "CISS3" EXACT ABBREVIATION [] +synonym: "cold-induced sweating syndrome 3" EXACT [DOID:0080331] synonym: "cold-induced sweating syndrome caused by mutation in KLHL7" EXACT [MONDO:design_pattern] -synonym: "cold-induced sweating syndrome type 3" EXACT [MONDORULE:1, OMIM:617055] -synonym: "CRISPONI/cold-induced sweating syndrome 3" RELATED [OMIM:617055] -synonym: "Crisponi/cold-induced sweating syndrome 3" RELATED [OMIM:617055] +synonym: "cold-induced sweating syndrome type 3" EXACT [MONDORULE:1] +synonym: "CRISPONI/cold-induced sweating syndrome 3" RELATED [] +synonym: "Crisponi/cold-induced sweating syndrome 3" RELATED [] synonym: "KLHL7 cold-induced sweating syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "KLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome" EXACT [Orphanet:603684] +synonym: "KLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome" EXACT [] synonym: "PERCHING" EXACT ABBREVIATION [OMIM:617055] -synonym: "Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations;and facial Gestalt/grimacing and Genitourinary abnormalities" EXACT [OMIM:617055] +synonym: "Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations;and facial Gestalt/grimacing and Genitourinary abnormalities" EXACT [] xref: DOID:0080331 {source="MONDO:equivalentTo"} xref: GARD:18278 {source="MONDO:GARD"} xref: MEDGEN:934709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -344570,13 +344634,13 @@ name: hyperuricemic nephropathy, familial juvenile type 4 def: "Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ADTKD-SEC61A1" EXACT [https://www.clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/] synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1" EXACT [MONDO:design_pattern] -synonym: "HNFJ4" EXACT ABBREVIATION [OMIM:617056] -synonym: "hyperuricemic NEPHROPATHY, familial juvenile, 4" RELATED [OMIM:617056] +synonym: "HNFJ4" EXACT ABBREVIATION [] +synonym: "hyperuricemic NEPHROPATHY, familial juvenile, 4" RELATED [] synonym: "hyperuricemic nephropathy, familial juvenile, 4" EXACT [OMIM:617056] -synonym: "hyperuricemic nephropathy, familial juvenile, type 4" EXACT [MONDORULE:1, OMIM:617056] +synonym: "hyperuricemic nephropathy, familial juvenile, type 4" EXACT [MONDORULE:1] synonym: "SEC61A1 familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SEC61A1-related autosomal dominant tubulointerstitial kidney disease" EXACT [https://www.clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/] -synonym: "tubulointerstitial kidney disease, autosomal dominant, 5" EXACT [OMIM:617056, OMIM:genemap2] +synonym: "tubulointerstitial kidney disease, autosomal dominant, 5" EXACT [OMIM:617056] xref: MEDGEN:934708 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617056 {source="MONDO:equivalentTo"} xref: UMLS:C4310741 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934708"} @@ -344597,14 +344661,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:476126"} subset: orphanet_rare {source="Orphanet:476126"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 44" EXACT [DOID:0070074] +synonym: "autosomal dominant intellectual disability 44" EXACT [] synonym: "autosomal dominant mental retardation 44" EXACT DEPRECATED [DOID:0070074] -synonym: "autosomal dominant non-syndromic intellectual disability 44" RELATED [DOID:0070074] -synonym: "intellectual developmental disorder, autosomal dominant 44, with microcephaly" EXACT [OMIM:617061, OMIM:genemap2] -synonym: "intellectual disability, autosomal dominant 44" RELATED [OMIM:617061] -synonym: "MEBAS" EXACT ABBREVIATION [OMIM:617061] -synonym: "mental retardation, autosomal dominant 44" RELATED DEPRECATED [OMIM:617061] -synonym: "mercer-Ba syndrome" EXACT [OMIM:617061] +synonym: "autosomal dominant non-syndromic intellectual disability 44" RELATED [] +synonym: "intellectual developmental disorder, autosomal dominant 44, with microcephaly" EXACT [OMIM:617061] +synonym: "intellectual disability, autosomal dominant 44" RELATED [] +synonym: "MEBAS" EXACT ABBREVIATION [] +synonym: "mental retardation, autosomal dominant 44" RELATED DEPRECATED [] +synonym: "mercer-Ba syndrome" EXACT [] synonym: "MRD44" EXACT ABBREVIATION [DOID:0070074, OMIM:617061] xref: DOID:0070074 {source="MONDO:equivalentTo"} xref: GARD:17850 {source="MONDO:GARD"} @@ -344645,10 +344709,10 @@ subset: gard_rare {source="GARD:16181", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CDC45 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Meier-Gorlin syndrome 7" EXACT [OMIM:617063] +synonym: "Meier-Gorlin syndrome 7" EXACT [DOID:0080518, OMIM:617063] synonym: "Meier-Gorlin syndrome 7; MGORS7" EXACT [] synonym: "Meier-Gorlin syndrome caused by mutation in CDC45" EXACT [MONDO:design_pattern] -synonym: "Meier-Gorlin syndrome type 7" EXACT [MONDORULE:1, OMIM:617063] +synonym: "Meier-Gorlin syndrome type 7" EXACT [MONDORULE:1] synonym: "MGORS7" EXACT ABBREVIATION [OMIM:617063] xref: DOID:0080518 {source="MONDO:equivalentTo"} xref: GARD:16181 {source="MONDO:GARD"} @@ -344670,13 +344734,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16182", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE40" EXACT ABBREVIATION [OMIM:617065] -synonym: "developmental and epileptic encephalopathy 40" EXACT [OMIM:617065, OMIM:genemap2] +synonym: "DEE40" EXACT ABBREVIATION [DOID:0080427, OMIM:617065] +synonym: "developmental and epileptic encephalopathy 40" EXACT [DOID:0080427, OMIM:617065] synonym: "early infantile epileptic encephalopathy caused by mutation in GUF1" EXACT [MONDO:design_pattern] -synonym: "EIEE40" EXACT ABBREVIATION [OMIM:617065] +synonym: "EIEE40" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 40" EXACT [OMIM:617065] synonym: "epileptic encephalopathy, early infantile, 40; EIEE40" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 40" EXACT [MONDORULE:2, OMIM:617065] +synonym: "epileptic encephalopathy, early infantile, type 40" EXACT [MONDORULE:2] synonym: "GUF1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080427 {source="MONDO:equivalentTo"} xref: GARD:16182 {source="MONDO:GARD"} @@ -344726,11 +344790,11 @@ def: "Any autosomal recessive progressive external ophthalmoplegia in which the subset: gard_rare {source="GARD:16183", source="MONDO:GARD"} subset: rare synonym: "autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2" EXACT [MONDO:design_pattern] -synonym: "PEOB3" EXACT ABBREVIATION [OMIM:617069] +synonym: "PEOB3" EXACT ABBREVIATION [DOID:0111523, OMIM:617069] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" EXACT [OMIM:617069] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3" EXACT [] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:617069] -synonym: "progressive external ophthalmoplegia, autosomal recessive 3" RELATED [OMIM:617069] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3" EXACT [MONDORULE:1] +synonym: "progressive external ophthalmoplegia, autosomal recessive 3" RELATED [] synonym: "TK2 autosomal recessive progressive external ophthalmoplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111523 {source="MONDO:equivalentTo"} xref: GARD:16183 {source="MONDO:GARD"} @@ -344753,12 +344817,12 @@ subset: ordo_disorder {source="Orphanet:329314"} subset: orphanet_rare {source="Orphanet:329314"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" EXACT [Orphanet:329314] -synonym: "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency" EXACT [Orphanet:329314] -synonym: "PEOB4" EXACT ABBREVIATION [OMIM:617070] +synonym: "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" EXACT [DOID:0111516, Orphanet:329314] +synonym: "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency" EXACT [DOID:0111516, Orphanet:329314] +synonym: "PEOB4" EXACT ABBREVIATION [DOID:0111516, OMIM:617070] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4" EXACT [OMIM:617070] -synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4" EXACT [MONDORULE:1, OMIM:617070] -synonym: "progressive external ophthalmoplegia, autosomal recessive 4" RELATED [OMIM:617070] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4" EXACT [MONDORULE:1] +synonym: "progressive external ophthalmoplegia, autosomal recessive 4" RELATED [] xref: DOID:0111516 {source="MONDO:equivalentTo"} xref: GARD:17501 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:329314/attributed", source="Orphanet:329314/ntbt", source="Orphanet:329314"} @@ -344785,11 +344849,11 @@ subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive muscular dystrophy due to LAP1B deficiency" EXACT [DOID:0110289, Orphanet:424261] synonym: "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" EXACT [DOID:0110289, Orphanet:424261] -synonym: "LGMD2Y" EXACT ABBREVIATION [DOID:0110289, OMIM:617072, Orphanet:424261] +synonym: "LGMD2Y" EXACT ABBREVIATION [DOID:0110289, NCIT:C181000, Orphanet:424261] synonym: "muscular dystrophy with progressive weakness, distal contractures and rigid spine" EXACT [DOID:0110289, Orphanet:424261] -synonym: "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures" EXACT [OMIM:617072, OMIM:genemap2] -synonym: "muscular dystrophy, limb-girdle, type 2Y" EXACT [DOID:0110289] -synonym: "muscular dystrophy, limb-girdle, type 2y" EXACT [OMIM:617072] +synonym: "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures" EXACT [NCIT:C181000] +synonym: "muscular dystrophy, limb-girdle, type 2Y" EXACT [DOID:0110289, OMIM:617072] +synonym: "muscular dystrophy, limb-girdle, type 2y" EXACT [DOID:0110289, OMIM:617072] synonym: "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110289 {source="MONDO:equivalentTo"} xref: GARD:17708 {source="MONDO:GARD"} @@ -344816,7 +344880,7 @@ synonym: "STHAG8" EXACT ABBREVIATION [OMIM:617073] synonym: "tooth agenesis caused by mutation in WNT10B" EXACT [MONDO:design_pattern] synonym: "tooth agenesis, selective, 8" EXACT [OMIM:617073] synonym: "tooth agenesis, selective, 8; STHAG8" EXACT [] -synonym: "tooth agenesis, selective, type 8" EXACT [MONDORULE:1, OMIM:617073] +synonym: "tooth agenesis, selective, type 8" EXACT [MONDORULE:1] synonym: "WNT10B tooth agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18250 {source="MONDO:GARD"} xref: MEDGEN:934697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -344839,9 +344903,9 @@ synonym: "MST1R nasopharyngeal carcinoma" EXACT [MONDO:design_pattern, MONDO:pat synonym: "nasopharyngeal carcinoma caused by mutation in MST1R" EXACT [MONDO:design_pattern] synonym: "nasopharyngeal carcinoma, susceptibility to, 3" EXACT [OMIM:617075] synonym: "nasopharyngeal carcinoma, susceptibility to, 3; NPCA3" EXACT [] -synonym: "nasopharyngeal carcinoma, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:617075] +synonym: "nasopharyngeal carcinoma, susceptibility to, type 3" EXACT [MONDORULE:1] synonym: "NPCA3" EXACT ABBREVIATION [OMIM:617075] -synonym: "susceptibility to nasopharyngeal carcinoma 3" RELATED [OMIM:617075] +synonym: "susceptibility to nasopharyngeal carcinoma 3" RELATED [] xref: MEDGEN:934696 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617075 {source="MONDO:equivalentTo"} xref: UMLS:C4310729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934696"} @@ -344859,11 +344923,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "benign familial infantile epilepsy caused by mutation in SCN8A" EXACT [MONDO:design_pattern] synonym: "BFIS5" EXACT ABBREVIATION [OMIM:617080] -synonym: "convulsions, benign familial infantile, 5" RELATED [OMIM:617080] +synonym: "convulsions, benign familial infantile, 5" RELATED [] synonym: "SCN8A benign familial infantile epilepsy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "seizures, benign familial infantile, 5" EXACT [OMIM:617080] synonym: "seizures, benign familial infantile, 5; BFIS5" EXACT [] -synonym: "seizures, benign familial infantile, type 5" EXACT [MONDORULE:1, OMIM:617080] +synonym: "seizures, benign familial infantile, type 5" EXACT [MONDORULE:1] xref: DOID:0081118 {source="MONDO:equivalentTo"} xref: GARD:16506 {source="MONDO:GARD"} xref: MEDGEN:934695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -344880,7 +344944,7 @@ name: congenital disorder of glycosylation, type IAA subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "CDG1AA" EXACT ABBREVIATION [OMIM:617082] -synonym: "congenital disorder of glycosylation, type 1aa" EXACT [OMIM:617082, OMIM:genemap2] +synonym: "congenital disorder of glycosylation, type 1aa" EXACT [] synonym: "congenital disorder of glycosylation, type IAA" EXACT [OMIM:617082] synonym: "congenital disorder of glycosylation, type IAA; CDG1AA" EXACT [] xref: DOID:0080553 {source="MONDO:equivalentTo"} @@ -344902,7 +344966,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:485421"} subset: rare synonym: "EMPF2" EXACT ABBREVIATION [OMIM:617086] synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission 2" EXACT [OMIM:617086] -synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission type 2" EXACT [MONDORULE:1, OMIM:617086] +synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission type 2" EXACT [MONDORULE:1] synonym: "Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome" EXACT [Orphanet:485421] synonym: "MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] xref: GARD:17881 {source="MONDO:GARD"} @@ -344928,10 +344992,10 @@ def: "An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by c subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Charcot-Marie-Tooth disease type 2A2B" EXACT [NCIT:C150647] -synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B" RELATED [OMIM:617087] -synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2B" EXACT [OMIM:617087, OMIM:genemap2] -synonym: "CMT2A2B" RELATED ABBREVIATION [OMIM:617087] +synonym: "Charcot-Marie-Tooth disease type 2A2B" EXACT [DOID:0111557, NCIT:C150647] +synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B" RELATED [] +synonym: "Charcot-Marie-Tooth disease, axonal, type 2A2B" EXACT [DOID:0111557] +synonym: "CMT2A2B" RELATED ABBREVIATION [] xref: DOID:0111557 {source="MONDO:equivalentTo"} xref: MEDGEN:934692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C150647 {source="MONDO:equivalentTo"} @@ -344968,7 +345032,7 @@ synonym: "autosomal recessive primary microcephaly caused by mutation in CIT" EX synonym: "autosomal recessive primary microcephaly caused by mutation in cit" EXACT [MONDO:design_pattern] synonym: "CIT autosomal recessive primary microcephaly" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "cit autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] -synonym: "MCPH17" EXACT ABBREVIATION [OMIM:617090] +synonym: "MCPH17" EXACT ABBREVIATION [DOID:0070288, OMIM:617090] synonym: "microcephaly 17, primary, autosomal recessive" EXACT [OMIM:617090] synonym: "microcephaly 17, primary, autosomal recessive; MCPH17" EXACT [] xref: DOID:0070288 {source="MONDO:equivalentTo"} @@ -344990,12 +345054,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD34" EXACT ABBREVIATION [DOID:0110610, OMIM:617091] synonym: "ciliary dyskinesia, primary, 34" EXACT [OMIM:617091] -synonym: "ciliary dyskinesia, primary, 34, without situs inversus" RELATED [OMIM:617091] -synonym: "ciliary dyskinesia, primary, type 34" EXACT [MONDORULE:2, OMIM:617091] +synonym: "ciliary dyskinesia, primary, 34, without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 34" EXACT [MONDORULE:2] synonym: "DNAJB13 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "primary ciliary dyskinesia 34 without situs inversus" EXACT [DOID:0110610] synonym: "primary ciliary dyskinesia caused by mutation in DNAJB13" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 34" EXACT [DOID:0110610, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 34" EXACT [MONDORULE:2] xref: DOID:0110610 {source="MONDO:equivalentTo"} xref: GARD:16187 {source="MONDO:GARD"} xref: MEDGEN:934689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345016,11 +345080,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CILD35" EXACT ABBREVIATION [DOID:0110620, OMIM:617092] synonym: "ciliary dyskinesia, primary, 35" EXACT [OMIM:617092] -synonym: "ciliary dyskinesia, primary, 35, with or without situs inversus" RELATED [OMIM:617092] -synonym: "ciliary dyskinesia, primary, type 35" EXACT [MONDORULE:2, OMIM:617092] +synonym: "ciliary dyskinesia, primary, 35, with or without situs inversus" RELATED [] +synonym: "ciliary dyskinesia, primary, type 35" EXACT [MONDORULE:2] synonym: "primary ciliary dyskinesia 35 with or without situs inversus" EXACT [DOID:0110620] synonym: "primary ciliary dyskinesia caused by mutation in TTC25" EXACT [MONDO:design_pattern] -synonym: "primary ciliary dyskinesia type 35" EXACT [DOID:0110620, MONDORULE:2] +synonym: "primary ciliary dyskinesia type 35" EXACT [MONDORULE:2] synonym: "TTC25 primary ciliary dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110620 {source="MONDO:equivalentTo"} xref: GARD:16188 {source="MONDO:GARD"} @@ -345044,8 +345108,8 @@ subset: ordo_disorder {source="Orphanet:541423"} subset: orphanet_rare {source="Orphanet:541423"} subset: rare synonym: "GRIDHH" EXACT ABBREVIATION [OMIM:617093] -synonym: "growth retardation, impaired intellectual development, hypotonia, and hepatopathy" EXACT [OMIM:617093, OMIM:genemap2] -synonym: "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" EXACT [OMIM:617093] +synonym: "growth retardation, impaired intellectual development, hypotonia, and hepatopathy" EXACT [OMIM:617093] +synonym: "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" EXACT [] synonym: "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH" EXACT [] xref: GARD:17980 {source="MONDO:GARD"} xref: MEDGEN:934687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345071,12 +345135,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AIPDS" EXACT ABBREVIATION [OMIM:617099] synonym: "autoinflammation, panniculitis and dermatosis syndrome" EXACT [DOID:0080163] -synonym: "AUTOINFLAMMATION, panniculitis, and dermatosis syndrome" RELATED [OMIM:617099] +synonym: "AUTOINFLAMMATION, panniculitis, and dermatosis syndrome" RELATED [] synonym: "Autoinflammation, panniculitis, and dermatosis syndrome" EXACT [OMIM:617099] synonym: "ORAS" EXACT ABBREVIATION [Orphanet:500062] synonym: "otulin deficiency" EXACT [Orphanet:500062] -synonym: "otulin-related autoinflammatory syndrome" EXACT [DOID:0080163, Orphanet:500062] -synonym: "otulipenia" EXACT [Orphanet:500062] +synonym: "otulin-related autoinflammatory syndrome" EXACT [DOID:0080163, OMIM:617099, Orphanet:500062] +synonym: "otulipenia" EXACT [DOID:0080163, OMIM:617099, Orphanet:500062] xref: DOID:0080163 {source="MONDO:equivalentTo"} xref: GARD:13198 {source="MONDO:GARD"} xref: MEDGEN:934581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345109,11 +345173,11 @@ synonym: "BCL11A-related intellectual developmental disorder with persistence of synonym: "BCL11A-related intellectual developmental disorder with persistence of foetal haemoglobin" RELATED OMO:0003005 [] synonym: "Dias-Logan syndrome" EXACT CLINGEN_LABEL [OMIM:617101] synonym: "Dias-Logan syndrome; DILOS" EXACT [] -synonym: "DILOS" EXACT ABBREVIATION [OMIM:617101] -synonym: "intellectual developmental disorder with hereditary persistence of fetal Hemoglobin" RELATED [OMIM:617101] +synonym: "DILOS" EXACT ABBREVIATION [] +synonym: "intellectual developmental disorder with hereditary persistence of fetal Hemoglobin" RELATED [] synonym: "intellectual developmental disorder with hereditary persistence of foetal Haemoglobin" RELATED OMO:0003005 [] -synonym: "intellectual developmental disorder with persistence of fetal HEMOGLOBIN" RELATED [OMIM:617101] -synonym: "intellectual developmental disorder with persistence of fetal Hemoglobin" RELATED [OMIM:617101] +synonym: "intellectual developmental disorder with persistence of fetal HEMOGLOBIN" RELATED [] +synonym: "intellectual developmental disorder with persistence of fetal Hemoglobin" RELATED [] synonym: "intellectual developmental disorder with persistence of foetal Haemoglobin" RELATED OMO:0003005 [] synonym: "intellectual developmental disorder with persistence of foetal HEMOGLOBIN" RELATED OMO:0003005 [] xref: MEDGEN:934800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345152,14 +345216,14 @@ subset: gard_rare {source="GARD:16190", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE41" EXACT ABBREVIATION [OMIM:617105] -synonym: "developmental and epileptic encephalopathy 41" EXACT [OMIM:617105, OMIM:genemap2] +synonym: "DEE41" EXACT ABBREVIATION [DOID:0080442, OMIM:617105] +synonym: "developmental and epileptic encephalopathy 41" EXACT [DOID:0080442, OMIM:617105] synonym: "developmental and epileptic encephalopathy, 41" EXACT CLINGEN_LABEL [] synonym: "early infantile epileptic encephalopathy caused by mutation in SLC1A2" EXACT [MONDO:design_pattern] -synonym: "EIEE41" EXACT ABBREVIATION [OMIM:617105] +synonym: "EIEE41" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 41" EXACT [OMIM:617105] synonym: "epileptic encephalopathy, early infantile, 41; EIEE41" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 41" EXACT [MONDORULE:2, OMIM:617105] +synonym: "epileptic encephalopathy, early infantile, type 41" EXACT [MONDORULE:2] synonym: "SLC1A2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080442 {source="MONDO:equivalentTo"} xref: GARD:16190 {source="MONDO:GARD"} @@ -345183,13 +345247,13 @@ subset: gard_rare {source="GARD:16191", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CACNA1A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DEE42" EXACT ABBREVIATION [OMIM:617106] -synonym: "developmental and epileptic encephalopathy 42" EXACT [OMIM:617106, OMIM:genemap2] +synonym: "DEE42" EXACT ABBREVIATION [DOID:0080454, OMIM:617106] +synonym: "developmental and epileptic encephalopathy 42" EXACT [DOID:0080454, OMIM:617106] synonym: "early infantile epileptic encephalopathy caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] -synonym: "EIEE42" EXACT ABBREVIATION [OMIM:617106] +synonym: "EIEE42" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 42" EXACT [OMIM:617106] synonym: "epileptic encephalopathy, early infantile, 42; EIEE42" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 42" EXACT [MONDORULE:2, OMIM:617106] +synonym: "epileptic encephalopathy, early infantile, type 42" EXACT [MONDORULE:2] xref: DOID:0080454 {source="MONDO:equivalentTo"} xref: GARD:16191 {source="MONDO:GARD"} xref: MEDGEN:934683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345213,7 +345277,7 @@ subset: ordo_disorder {source="Orphanet:500095"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:500095"} subset: rare -synonym: "THAUVIN-robinet-Faivre syndrome" RELATED [OMIM:617107] +synonym: "THAUVIN-robinet-Faivre syndrome" RELATED [] synonym: "Thauvin-robinet-Faivre syndrome" EXACT [OMIM:617107, Orphanet:500095] synonym: "TROFAS" EXACT ABBREVIATION [OMIM:617107] xref: GARD:17921 {source="MONDO:GARD"} @@ -345255,13 +345319,13 @@ subset: ordo_disorder {source="Orphanet:466718"} subset: orphanet_rare {source="Orphanet:466718"} subset: rare synonym: "macular dystrophy, patterned, 3" EXACT [OMIM:617111] -synonym: "macular dystrophy, patterned, type 3" EXACT [MONDORULE:1, OMIM:617111] +synonym: "macular dystrophy, patterned, type 3" EXACT [MONDORULE:1] synonym: "MAPKAPK3 patterned macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Martinique crinkled retinal pigment epitheliopathy" EXACT [DOID:0060865] +synonym: "Martinique crinkled retinal pigment epitheliopathy" EXACT [DOID:0060865, OMIM:617111, Orphanet:466718] synonym: "MCRPE" EXACT ABBREVIATION [Orphanet:466718] synonym: "MDPT3" EXACT ABBREVIATION [DOID:0060865, OMIM:617111] synonym: "patterned macular dystrophy caused by mutation in MAPKAPK3" EXACT [MONDO:design_pattern] -synonym: "patterned macular dystrophy type 3" EXACT [DOID:0060865, MONDORULE:1] +synonym: "patterned macular dystrophy type 3" EXACT [MONDORULE:1] xref: DOID:0060865 {source="MONDO:equivalentTo"} xref: GARD:17826 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:466718/attributed", source="Orphanet:466718/ntbt", source="Orphanet:466718"} @@ -345281,13 +345345,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16192", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE43" EXACT ABBREVIATION [OMIM:617113] -synonym: "developmental and epileptic encephalopathy 43" EXACT [OMIM:617113, OMIM:genemap2] +synonym: "DEE43" EXACT ABBREVIATION [DOID:0080447, OMIM:617113] +synonym: "developmental and epileptic encephalopathy 43" EXACT [DOID:0080447, OMIM:617113] synonym: "early infantile epileptic encephalopathy caused by mutation in GABRB3" EXACT [MONDO:design_pattern] -synonym: "EIEE43" EXACT ABBREVIATION [OMIM:617113] +synonym: "EIEE43" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 43" EXACT [OMIM:617113] synonym: "epileptic encephalopathy, early infantile, 43; EIEE43" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 43" EXACT [MONDORULE:2, OMIM:617113] +synonym: "epileptic encephalopathy, early infantile, type 43" EXACT [MONDORULE:2] synonym: "GABRB3 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080447 {source="MONDO:equivalentTo"} xref: GARD:16192 {source="MONDO:GARD"} @@ -345307,12 +345371,12 @@ name: myofibrillar myopathy 7 def: "Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [DOID:0080098] +synonym: "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [] synonym: "KY myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "MFM7" RELATED ABBREVIATION [OMIM:617114] +synonym: "MFM7" RELATED ABBREVIATION [] synonym: "myofibrillar myopathy (disease) caused by mutation in KY" EXACT [] synonym: "myopathy, myofibrillar, 7" EXACT [OMIM:617114] -synonym: "myopathy, myofibrillar, type 7" EXACT [MONDORULE:1, OMIM:617114] +synonym: "myopathy, myofibrillar, type 7" EXACT [MONDORULE:1] xref: DOID:0080098 {source="MONDO:lexical", source="MONDO:equivalentTo"} xref: MEDGEN:934678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617114 {source="DOID:0080098", source="MONDO:equivalentTo"} @@ -345329,11 +345393,11 @@ def: "Any peeling skin syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:18427", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "peeling skin syndrome 5" EXACT [OMIM:617115] +synonym: "peeling skin syndrome 5" EXACT [DOID:0070524, OMIM:617115] synonym: "peeling skin syndrome 5; PSS5" EXACT [] synonym: "peeling skin syndrome caused by mutation in SERPINB8" EXACT [MONDO:design_pattern] -synonym: "peeling skin syndrome type 5" EXACT [MONDORULE:1, OMIM:617115] -synonym: "PSS5" EXACT ABBREVIATION [OMIM:617115] +synonym: "peeling skin syndrome type 5" EXACT [MONDORULE:1] +synonym: "PSS5" EXACT ABBREVIATION [DOID:0070524, OMIM:617115] synonym: "SERPINB8 peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070524 {source="MONDO:equivalentTo"} xref: GARD:18427 {source="MONDO:GARD"} @@ -345356,7 +345420,7 @@ subset: rare synonym: "epilepsy, familial focal, with variable foci 2" EXACT [OMIM:617116] synonym: "epilepsy, familial focal, with variable foci 2; FFEVF2" EXACT [] synonym: "epilepsy, familial focal, with variable foci caused by mutation in NPRL2" EXACT [MONDO:design_pattern] -synonym: "epilepsy, familial focal, with variable foci type 2" EXACT [MONDORULE:1, OMIM:617116] +synonym: "epilepsy, familial focal, with variable foci type 2" EXACT [MONDORULE:1] synonym: "FFEVF2" EXACT ABBREVIATION [OMIM:617116] synonym: "NPRL2 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081422 {source="MONDO:equivalentTo"} @@ -345379,7 +345443,7 @@ subset: rare synonym: "epilepsy, familial focal, with variable foci 3" EXACT [OMIM:617118] synonym: "epilepsy, familial focal, with variable foci 3; FFEVF3" EXACT [] synonym: "epilepsy, familial focal, with variable foci caused by mutation in NPRL3" EXACT [MONDO:design_pattern] -synonym: "epilepsy, familial focal, with variable foci type 3" EXACT [MONDORULE:1, OMIM:617118] +synonym: "epilepsy, familial focal, with variable foci type 3" EXACT [MONDORULE:1] synonym: "FFEVF3" EXACT ABBREVIATION [OMIM:617118] synonym: "NPRL3 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081423 {source="MONDO:equivalentTo"} @@ -345401,8 +345465,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Bardet-Biedl syndrome 20; BBS20" RELATED DEPRECATED [] synonym: "Bardet-Biedl syndrome caused by mutation in IFT74" EXACT [MONDO:design_pattern] -synonym: "Bardet-Biedl syndrome type 20" RELATED DEPRECATED [MONDORULE:2, OMIM:617119] -synonym: "BBS20" RELATED DEPRECATED [OMIM:617119] +synonym: "Bardet-Biedl syndrome type 20" RELATED DEPRECATED [MONDORULE:2] +synonym: "BBS20" RELATED DEPRECATED [] synonym: "IFT74 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081011 {source="MONDO:equivalentTo"} xref: GARD:16193 {source="MONDO:GARD"} @@ -345424,9 +345488,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "B9D1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "JBTS27" EXACT ABBREVIATION [DOID:0110996, OMIM:617120] -synonym: "Joubert syndrome 27" EXACT CLINGEN_LABEL [OMIM:617120] +synonym: "Joubert syndrome 27" EXACT CLINGEN_LABEL [DOID:0110996, OMIM:617120] synonym: "Joubert syndrome caused by mutation in B9D1" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 27" EXACT [DOID:0110996, MONDORULE:2, OMIM:617120] +synonym: "Joubert syndrome type 27" EXACT [MONDORULE:2] xref: DOID:0110996 {source="MONDO:equivalentTo"} xref: GARD:16194 {source="MONDO:GARD"} xref: MEDGEN:934673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345445,9 +345509,9 @@ subset: gard_rare {source="GARD:16195", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "JBTS28" EXACT ABBREVIATION [DOID:0110997, OMIM:617121] -synonym: "Joubert syndrome 28" EXACT [OMIM:617121] +synonym: "Joubert syndrome 28" EXACT [DOID:0110997, OMIM:617121] synonym: "Joubert syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern] -synonym: "Joubert syndrome type 28" EXACT [DOID:0110997, MONDORULE:2, OMIM:617121] +synonym: "Joubert syndrome type 28" EXACT [MONDORULE:2] synonym: "MKS1 Joubert syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110997 {source="MONDO:equivalentTo"} xref: GARD:16195 {source="MONDO:GARD"} @@ -345471,7 +345535,7 @@ synonym: "POMGNT1 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patte synonym: "retinitis pigmentosa 76" EXACT [OMIM:617123] synonym: "retinitis pigmentosa 76; RP76" EXACT [] synonym: "retinitis pigmentosa caused by mutation in POMGNT1" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 76" EXACT [MONDORULE:2, OMIM:617123] +synonym: "retinitis pigmentosa type 76" EXACT [MONDORULE:2] synonym: "RP76" EXACT ABBREVIATION [OMIM:617123] xref: GARD:16196 {source="MONDO:GARD"} xref: MEDGEN:934671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345491,11 +345555,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14" EXACT [MONDO:design_pattern] -synonym: "intellectual developmental disorder, autosomal recessive 56" EXACT [OMIM:617125, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 56" EXACT [OMIM:617125] -synonym: "intellectual disability, autosomal recessive type 56" EXACT [MONDORULE:2, OMIM:617125] +synonym: "intellectual developmental disorder, autosomal recessive 56" EXACT [OMIM:617125] +synonym: "intellectual disability, autosomal recessive 56" EXACT [] +synonym: "intellectual disability, autosomal recessive type 56" EXACT [MONDORULE:2] synonym: "mental retardation, autosomal recessive 56" EXACT DEPRECATED [OMIM:617125] -synonym: "mental retardation, autosomal recessive type 56" EXACT DEPRECATED [MONDORULE:2, OMIM:617125] +synonym: "mental retardation, autosomal recessive type 56" EXACT DEPRECATED [MONDORULE:2] synonym: "MRT56" EXACT ABBREVIATION [OMIM:617125] synonym: "ZC3H14 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081217 {source="MONDO:equivalentTo"} @@ -345529,11 +345593,11 @@ subset: gard_rare {source="GARD:16197", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "OFD15" EXACT ABBREVIATION [OMIM:617127] -synonym: "Ofds 15" RELATED [OMIM:617127] -synonym: "oral-Facial-digital syndrome, type 15" RELATED [OMIM:617127] -synonym: "orofaciodigital syndrome 15" RELATED [OMIM:617127] -synonym: "orofaciodigital syndrome type XV" EXACT [MONDORULE:3, OMIM:617127] -synonym: "orofaciodigital syndrome XV" EXACT [OMIM:617127] +synonym: "Ofds 15" RELATED [] +synonym: "oral-Facial-digital syndrome, type 15" RELATED [] +synonym: "orofaciodigital syndrome 15" RELATED [] +synonym: "orofaciodigital syndrome type XV" EXACT [MONDORULE:3] +synonym: "orofaciodigital syndrome XV" EXACT [] xref: GARD:16197 {source="MONDO:GARD"} xref: MEDGEN:934668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617127 {source="MONDO:equivalentTo"} @@ -345548,13 +345612,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16198", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE44" EXACT ABBREVIATION [OMIM:617132] -synonym: "developmental and epileptic encephalopathy 44" EXACT [OMIM:617132, OMIM:genemap2] +synonym: "DEE44" EXACT ABBREVIATION [DOID:0080424, OMIM:617132] +synonym: "developmental and epileptic encephalopathy 44" EXACT [DOID:0080424, OMIM:617132] synonym: "early infantile epileptic encephalopathy caused by mutation in UBA5" EXACT [MONDO:design_pattern] -synonym: "EIEE44" EXACT ABBREVIATION [OMIM:617132] +synonym: "EIEE44" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 44" EXACT [OMIM:617132] synonym: "epileptic encephalopathy, early infantile, 44; EIEE44" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 44" EXACT [MONDORULE:2, OMIM:617132] +synonym: "epileptic encephalopathy, early infantile, type 44" EXACT [MONDORULE:2] synonym: "UBA5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080424 {source="MONDO:equivalentTo"} xref: GARD:16198 {source="MONDO:GARD"} @@ -345576,10 +345640,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant cerebellar ataxia caused by mutation in UBA5" EXACT [MONDO:design_pattern] -synonym: "SCAR24" EXACT ABBREVIATION [OMIM:617133] +synonym: "SCAR24" EXACT ABBREVIATION [DOID:0111615, OMIM:617133] synonym: "spinocerebellar ataxia, autosomal recessive 24" EXACT [OMIM:617133] synonym: "spinocerebellar ataxia, autosomal recessive 24; SCAR24" EXACT [] -synonym: "spinocerebellar ataxia, autosomal recessive type 24" EXACT [MONDORULE:2, OMIM:617133] +synonym: "spinocerebellar ataxia, autosomal recessive type 24" EXACT [MONDORULE:2] synonym: "UBA5 autosomal dominant cerebellar ataxia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111615 {source="MONDO:equivalentTo"} xref: MEDGEN:934666 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345597,11 +345661,11 @@ def: "Any frontometaphyseal dysplasia in which the cause of the disease is a mut subset: gard_rare {source="GARD:16199", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "FMD2" EXACT ABBREVIATION [OMIM:617137] -synonym: "Frontometaphyseal dysplasia 2" EXACT [OMIM:617137] +synonym: "FMD2" EXACT ABBREVIATION [DOID:0111787, OMIM:617137] +synonym: "Frontometaphyseal dysplasia 2" EXACT [DOID:0111787, OMIM:617137] synonym: "frontometaphyseal dysplasia 2; FMD2" EXACT [] synonym: "frontometaphyseal dysplasia caused by mutation in MAP3K7" EXACT [MONDO:design_pattern] -synonym: "Frontometaphyseal dysplasia type 2" EXACT [MONDORULE:1, OMIM:617137] +synonym: "Frontometaphyseal dysplasia type 2" EXACT [MONDORULE:1] synonym: "MAP3K7 frontometaphyseal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111787 {source="MONDO:equivalentTo"} xref: GARD:16199 {source="MONDO:GARD"} @@ -345625,14 +345689,14 @@ subset: ordo_disorder {source="Orphanet:500150"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:500150"} subset: rare -synonym: "brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome" RELATED [Orphanet:500150] -synonym: "TOKIMS" EXACT ABBREVIATION [OMIM:617140] -synonym: "Tokita-Kim syndrome" EXACT [OMIM:617140] -synonym: "Zhu-Tokita-Takenouchi-Kim syndrome" RELATED [OMIM:617140] -synonym: "ZTTK multiple congenital anomalies-intellectual disability syndrome" RELATED [OMIM:617140] -synonym: "ZTTK multiple congenital anomalies-mental retardation syndrome" RELATED DEPRECATED [OMIM:617140] -synonym: "ZTTK syndrome" EXACT CLINGEN_LABEL [OMIM:617140] -synonym: "ZTTKS" RELATED ABBREVIATION [OMIM:617140] +synonym: "brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome" RELATED [] +synonym: "TOKIMS" EXACT ABBREVIATION [] +synonym: "Tokita-Kim syndrome" EXACT [] +synonym: "Zhu-Tokita-Takenouchi-Kim syndrome" RELATED [] +synonym: "ZTTK multiple congenital anomalies-intellectual disability syndrome" RELATED [] +synonym: "ZTTK multiple congenital anomalies-mental retardation syndrome" RELATED DEPRECATED [] +synonym: "ZTTK syndrome" EXACT CLINGEN_LABEL [DOID:0060953, OMIM:617140, Orphanet:500150] +synonym: "ZTTKS" RELATED ABBREVIATION [] xref: DOID:0060953 {source="MONDO:equivalentTo"} xref: GARD:13489 {source="MONDO:GARD"} xref: MEDGEN:934663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345655,7 +345719,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AN2" EXACT ABBREVIATION [OMIM:617141] synonym: "aniridia 2" EXACT [OMIM:617141] -synonym: "aniridia type 2" EXACT [MONDORULE:1, OMIM:617141] +synonym: "aniridia type 2" EXACT [MONDORULE:1] xref: GARD:16200 {source="MONDO:GARD"} xref: MEDGEN:138010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536372 {source="MONDO:equivalentTo"} @@ -345678,7 +345742,7 @@ subset: rare synonym: "AN3" EXACT ABBREVIATION [OMIM:617142] synonym: "aniridia 3" EXACT [OMIM:617142] synonym: "aniridia 3; AN3" EXACT [] -synonym: "aniridia type 3" EXACT [MONDORULE:1, OMIM:617142] +synonym: "aniridia type 3" EXACT [MONDORULE:1] synonym: "isolated aniridia caused by mutation in TRIM44" EXACT [MONDO:design_pattern] synonym: "TRIM44 isolated aniridia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16201 {source="MONDO:GARD"} @@ -345702,7 +345766,7 @@ subset: rare synonym: "CMS20" EXACT ABBREVIATION [DOID:0110661, OMIM:617143] synonym: "congenital myasthenic syndrome 20 presynaptic" EXACT [DOID:0110661] synonym: "congenital myasthenic syndrome caused by mutation in SLC5A7" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 20" EXACT [DOID:0110661, MONDORULE:2] +synonym: "congenital myasthenic syndrome type 20" EXACT [MONDORULE:2] synonym: "myasthenic syndrome, congenital, 20, presynaptic" EXACT [OMIM:617143] synonym: "SLC5A7 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110661 {source="MONDO:equivalentTo"} @@ -345720,7 +345784,7 @@ id: MONDO:0014940 name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset subset: otar {source="MONDO:OTAR"} synonym: "NADGP" EXACT ABBREVIATION [OMIM:617145] -synonym: "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" EXACT [OMIM:617145] +synonym: "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" EXACT [DOID:0081364, OMIM:617145] synonym: "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP" EXACT [] xref: DOID:0081364 {source="MONDO:equivalentTo"} xref: MEDGEN:934660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345752,13 +345816,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16203", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE45" EXACT ABBREVIATION [OMIM:617153] -synonym: "developmental and epileptic encephalopathy 45" EXACT [OMIM:617153, OMIM:genemap2] +synonym: "DEE45" EXACT ABBREVIATION [DOID:0080428, OMIM:617153] +synonym: "developmental and epileptic encephalopathy 45" EXACT [DOID:0080428, OMIM:617153] synonym: "early infantile epileptic encephalopathy caused by mutation in GABRB1" EXACT [MONDO:design_pattern] -synonym: "EIEE45" EXACT ABBREVIATION [OMIM:617153] +synonym: "EIEE45" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 45" EXACT [OMIM:617153] synonym: "epileptic encephalopathy, early infantile, 45; EIEE45" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 45" EXACT [MONDORULE:2, OMIM:617153] +synonym: "epileptic encephalopathy, early infantile, type 45" EXACT [MONDORULE:2] synonym: "GABRB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080428 {source="MONDO:equivalentTo"} xref: GARD:16203 {source="MONDO:GARD"} @@ -345781,7 +345845,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" EXACT [OMIM:617156] synonym: "mitochondrial DNA depletion syndrome caused by mutation in TFAM" EXACT [MONDO:design_pattern] -synonym: "MTDPS15" RELATED ABBREVIATION [OMIM:617156] +synonym: "MTDPS15" RELATED ABBREVIATION [] synonym: "TFAM mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080337 {source="MONDO:equivalentTo"} xref: MEDGEN:934657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -345804,8 +345868,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:464288"} subset: orphanet_rare {source="Orphanet:464288"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SBIDDS" EXACT ABBREVIATION [OMIM:617157] -synonym: "short stature, brachydactyly, intellectual developmental disability, and seizures" EXACT [OMIM:617157] +synonym: "SBIDDS" EXACT ABBREVIATION [OMIM:617157, Orphanet:464288] +synonym: "short stature, brachydactyly, intellectual developmental disability, and seizures" EXACT [] xref: GARD:17817 {source="MONDO:GARD"} xref: MEDGEN:934656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617157 {source="Orphanet:464288", source="MONDO:equivalentTo", source="Orphanet:464288/e"} @@ -345845,11 +345909,11 @@ subset: ordo_disorder {source="Orphanet:653712"} subset: orphanet_rare {source="Orphanet:653712"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome" RELATED [OMIM:617159] -synonym: "Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome" RELATED DEPRECATED [OMIM:617159] -synonym: "Sifrim-Hitz-Weiss syndrome" EXACT [OMIM:617159] +synonym: "Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome" RELATED [] +synonym: "Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome" RELATED DEPRECATED [] +synonym: "Sifrim-Hitz-Weiss syndrome" EXACT [DOID:0070529, OMIM:617159, Orphanet:653712] synonym: "Sifrim-Hitz-Weiss syndrome; SIHIWES" EXACT [] -synonym: "SIHIWES" EXACT ABBREVIATION [OMIM:617159] +synonym: "SIHIWES" EXACT ABBREVIATION [DOID:0070529, OMIM:617159] xref: DOID:0070529 {source="MONDO:equivalentTo"} xref: MEDGEN:934655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617159 {source="MONDO:equivalentTo"} @@ -345865,13 +345929,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16205", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE46" EXACT ABBREVIATION [OMIM:617162] -synonym: "developmental and epileptic encephalopathy 46" EXACT [OMIM:617162, OMIM:genemap2] +synonym: "DEE46" EXACT ABBREVIATION [DOID:0080456, OMIM:617162] +synonym: "developmental and epileptic encephalopathy 46" EXACT [DOID:0080456, OMIM:617162] synonym: "early infantile epileptic encephalopathy caused by mutation in GRIN2D" EXACT [MONDO:design_pattern] -synonym: "EIEE46" EXACT ABBREVIATION [OMIM:617162] +synonym: "EIEE46" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 46" EXACT [OMIM:617162] synonym: "epileptic encephalopathy, early infantile, 46; EIEE46" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 46" EXACT [MONDORULE:2, OMIM:617162] +synonym: "epileptic encephalopathy, early infantile, type 46" EXACT [MONDORULE:2] synonym: "GRIN2D early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080456 {source="MONDO:equivalentTo"} xref: GARD:16205 {source="MONDO:GARD"} @@ -345894,7 +345958,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" EXACT CLINGEN_LABEL [OMIM:617164] synonym: "short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD" EXACT [] -synonym: "SRMMD" EXACT ABBREVIATION [OMIM:617164] +synonym: "SRMMD" EXACT ABBREVIATION [] xref: MEDGEN:934653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617164 {source="MONDO:equivalentTo"} xref: Orphanet:659702 {source="MONDO:equivalentTo"} @@ -345909,13 +345973,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="GARD:16206", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE47" EXACT ABBREVIATION [OMIM:617166] -synonym: "developmental and epileptic encephalopathy 47" EXACT [OMIM:617166, OMIM:genemap2] +synonym: "DEE47" EXACT ABBREVIATION [DOID:0080425, OMIM:617166] +synonym: "developmental and epileptic encephalopathy 47" EXACT [DOID:0080425, OMIM:617166] synonym: "early infantile epileptic encephalopathy caused by mutation in FGF12" EXACT [MONDO:design_pattern] -synonym: "EIEE47" EXACT ABBREVIATION [OMIM:617166] +synonym: "EIEE47" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 47" EXACT [OMIM:617166] synonym: "epileptic encephalopathy, early infantile, 47; EIEE47" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 47" EXACT [MONDORULE:2, OMIM:617166] +synonym: "epileptic encephalopathy, early infantile, type 47" EXACT [MONDORULE:2] synonym: "FGF12 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080425 {source="MONDO:equivalentTo"} xref: GARD:16206 {source="MONDO:GARD"} @@ -345938,7 +346002,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AAT10" EXACT ABBREVIATION [OMIM:617168] synonym: "aortic aneurysm, familial thoracic 10" EXACT [OMIM:617168] -synonym: "aortic aneurysm, familial thoracic type 10" EXACT [MONDORULE:2, OMIM:617168] +synonym: "aortic aneurysm, familial thoracic type 10" EXACT [MONDORULE:2] synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX" EXACT [MONDO:design_pattern] synonym: "LOX familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16207 {source="MONDO:GARD"} @@ -345958,11 +346022,11 @@ subset: gard_rare {source="GARD:16208", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "APC2 Sotos syndrome" EXACT DEPRECATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual developmental disorder, autosomal recessive 74" EXACT [OMIM:617169, OMIM:genemap2] -synonym: "Sotos syndrome 3" EXACT DEPRECATED [OMIM:617169] +synonym: "intellectual developmental disorder, autosomal recessive 74" EXACT [OMIM:617169] +synonym: "Sotos syndrome 3" EXACT DEPRECATED [DOID:0112104] synonym: "Sotos syndrome caused by mutation in APC2" EXACT DEPRECATED [MONDO:design_pattern] -synonym: "Sotos syndrome type 3" EXACT DEPRECATED [MONDORULE:1, OMIM:617169] -synonym: "SOTOS3" EXACT DEPRECATED [OMIM:617169] +synonym: "Sotos syndrome type 3" EXACT DEPRECATED [MONDORULE:1] +synonym: "SOTOS3" EXACT DEPRECATED [DOID:0112104] xref: DOID:0081218 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0112104 {source="MONDO:equivalentTo"} xref: GARD:16208 {source="MONDO:GARD"} @@ -345984,9 +346048,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:468620"} subset: orphanet_rare {source="Orphanet:468620"} subset: rare -synonym: "DYSEIDD" RELATED ABBREVIATION [OMIM:617171] -synonym: "dyskinesia, seizures, and intellectual developmental disorder" RELATED [OMIM:617171] -synonym: "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" EXACT [OMIM:617171, OMIM:genemap2] +synonym: "DYSEIDD" RELATED ABBREVIATION [] +synonym: "dyskinesia, seizures, and intellectual developmental disorder" RELATED [] +synonym: "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" EXACT [] xref: GARD:13474 {source="MONDO:GARD"} xref: MEDGEN:934650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617171 {source="Orphanet:468620", source="MONDO:equivalentTo", source="Orphanet:468620/e"} @@ -346007,8 +346071,8 @@ subset: ordo_disorder {source="Orphanet:542306"} subset: orphanet_rare {source="Orphanet:542306"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IDDCA" EXACT ABBREVIATION [OMIM:617173] -synonym: "intellectual developmental disorder with cardiac arrhythmia" EXACT [OMIM:617173] +synonym: "IDDCA" EXACT ABBREVIATION [] +synonym: "intellectual developmental disorder with cardiac arrhythmia" EXACT [DOID:0081008, OMIM:617173] synonym: "intellectual developmental disorder with cardiac arrhythmia; IDDCA" EXACT [] xref: DOID:0081008 {source="MONDO:equivalentTo"} xref: GARD:17982 {source="MONDO:GARD"} @@ -346027,8 +346091,8 @@ name: Ehlers-Danlos syndrome, periodontal type 2 subset: gard_rare {source="GARD:16209", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EDSPD2" RELATED ABBREVIATION [OMIM:617174] -synonym: "Ehlers-Danlos syndrome, periodontal type, 2" RELATED [OMIM:617174] +synonym: "EDSPD2" RELATED ABBREVIATION [] +synonym: "Ehlers-Danlos syndrome, periodontal type, 2" RELATED [] xref: DOID:0080987 {source="MONDO:equivalentTo"} xref: GARD:16209 {source="MONDO:GARD"} xref: MEDGEN:934648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -346077,8 +346141,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014957 name: language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia subset: otar {source="MONDO:OTAR"} -synonym: "LADCI" EXACT ABBREVIATION [OMIM:617182] -synonym: "language delay and ADHD/cognitive impairment with or without cardiac arrhythmia" EXACT [OMIM:617182, OMIM:genemap2] +synonym: "LADCI" EXACT ABBREVIATION [] +synonym: "language delay and ADHD/cognitive impairment with or without cardiac arrhythmia" EXACT [] synonym: "language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia" EXACT [OMIM:617182] synonym: "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI" EXACT [] xref: MEDGEN:934645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -346098,7 +346162,7 @@ subset: ordo_disorder {source="Orphanet:496790"} subset: orphanet_rare {source="Orphanet:496790"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Harel-Yoon syndrome" EXACT [OMIM:617183, Orphanet:496790] +synonym: "Harel-Yoon syndrome" EXACT [DOID:0081395, OMIM:617183, Orphanet:496790] synonym: "Harel-Yoon syndrome; HAYOS" EXACT [] synonym: "HAYOS" EXACT ABBREVIATION [OMIM:617183] synonym: "optic atrophy-peripheral neuropathy-developmental delay syndrome" EXACT [MONDO:0044652] @@ -346123,7 +346187,7 @@ name: mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD" EXACT [OMIM:617184, OMIM:genemap2] +synonym: "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant" EXACT [OMIM:617184] synonym: "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A" EXACT [] synonym: "MTDPS12A" EXACT ABBREVIATION [OMIM:617184] @@ -346141,10 +346205,10 @@ name: encephalopathy, progressive, early-onset, with brain edema and/or leukoenc subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" EXACT [OMIM:617186] +synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" EXACT [OMIMPS:617186] synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL" EXACT [] synonym: "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy; PEBEL" EXACT OMO:0003005 [] -synonym: "PEBEL" EXACT ABBREVIATION [OMIM:617186] +synonym: "PEBEL" EXACT ABBREVIATION [] xref: EFO:0009158 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: OMIMPS:617186 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="EFO:0009158", source="OMIMPS:617186"} ! hereditary disease @@ -346157,12 +346221,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0014961 name: spermatogenic failure 16 def: "Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene." [MONDO:patterns/disease_series_by_gene] -synonym: "acephalic spermatozoa syndrome" RELATED [OMIM:617187] +synonym: "acephalic spermatozoa syndrome" RELATED [] synonym: "azoospermia caused by mutation in SUN5" EXACT [MONDO:design_pattern] -synonym: "spermatogenic failure 16" EXACT [OMIM:617187] +synonym: "spermatogenic failure 16" EXACT [DOID:0070184, OMIM:617187] synonym: "spermatogenic failure 16; SPGF16" EXACT [] -synonym: "spermatogenic failure type 16" EXACT [MONDORULE:2, OMIM:617187] -synonym: "SPGF16" EXACT ABBREVIATION [OMIM:617187] +synonym: "spermatogenic failure type 16" EXACT [MONDORULE:2] +synonym: "SPGF16" EXACT ABBREVIATION [DOID:0070184, OMIM:617187] synonym: "SUN5 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070184 {source="MONDO:equivalentTo"} xref: MEDGEN:934641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -346184,12 +346248,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7" EXACT [MONDO:design_pattern] -synonym: "intellectual developmental disorder, autosomal recessive 57" EXACT [OMIM:617188, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 57" EXACT [OMIM:617188] -synonym: "intellectual disability, autosomal recessive type 57" EXACT [MONDORULE:2, OMIM:617188] +synonym: "intellectual developmental disorder, autosomal recessive 57" EXACT [OMIM:617188] +synonym: "intellectual disability, autosomal recessive 57" EXACT [] +synonym: "intellectual disability, autosomal recessive type 57" EXACT [MONDORULE:2] synonym: "MBOAT7 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "mental retardation, autosomal recessive 57" EXACT DEPRECATED [OMIM:617188] -synonym: "mental retardation, autosomal recessive type 57" EXACT DEPRECATED [MONDORULE:2, OMIM:617188] +synonym: "mental retardation, autosomal recessive 57" EXACT DEPRECATED [] +synonym: "mental retardation, autosomal recessive type 57" EXACT DEPRECATED [MONDORULE:2] synonym: "MRT57" EXACT ABBREVIATION [OMIM:617188] xref: DOID:0081219 {source="MONDO:equivalentTo"} xref: GARD:22575 {source="MONDO:GARD"} @@ -346235,7 +346299,7 @@ synonym: "lethal congenital contracture arthrogryposis-11" RELATED [GARD:0013220 synonym: "lethal congenital contracture syndrome 11" EXACT [OMIM:617194] synonym: "lethal congenital contracture syndrome 11; LCCS11" EXACT [] synonym: "lethal congenital contracture syndrome caused by mutation in GLDN" EXACT [MONDO:design_pattern] -synonym: "lethal congenital contracture syndrome type 11" EXACT [MONDORULE:2, OMIM:617194] +synonym: "lethal congenital contracture syndrome type 11" EXACT [MONDORULE:2] xref: GARD:13220 {source="MONDO:GARD"} xref: MEDGEN:934637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617194 {source="MONDO:equivalentTo"} @@ -346259,7 +346323,7 @@ synonym: "NEDD4L periventricular nodular heterotopia" EXACT [MONDO:design_patter synonym: "periventricular nodular heterotopia 7" EXACT [OMIM:617201] synonym: "periventricular nodular heterotopia 7; PVNH7" EXACT [] synonym: "periventricular nodular heterotopia caused by mutation in NEDD4L" EXACT [MONDO:design_pattern] -synonym: "periventricular nodular heterotopia type 7" EXACT [MONDORULE:1, OMIM:617201] +synonym: "periventricular nodular heterotopia type 7" EXACT [MONDORULE:1] synonym: "PVNH7" EXACT ABBREVIATION [OMIM:617201] xref: GARD:16210 {source="MONDO:GARD"} xref: MEDGEN:934636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -346316,7 +346380,7 @@ subset: ordo_disorder {source="Orphanet:440713"} subset: orphanet_rare {source="Orphanet:440713"} subset: rare synonym: "isolated SHPK deficiency" EXACT [Orphanet:440713] -synonym: "sedoheptulokinase deficiency" EXACT [OMIM:617213, OMIM:genemap2] +synonym: "sedoheptulokinase deficiency" EXACT [OMIM:617213] synonym: "SHPKD" EXACT ABBREVIATION [OMIM:617213] xref: GARD:18652 {source="MONDO:GARD"} xref: ICD9:277.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -346335,12 +346399,12 @@ id: MONDO:0014970 name: spermatogenic failure 17 def: "Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "azoospermia caused by mutation in PLCZ1" EXACT [MONDO:design_pattern] -synonym: "Male infertility due to oocyte Activation failure" RELATED [OMIM:617214] +synonym: "Male infertility due to oocyte Activation failure" RELATED [] synonym: "PLCZ1 azoospermia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "spermatogenic failure 17" EXACT [OMIM:617214] +synonym: "spermatogenic failure 17" EXACT [DOID:0070174, OMIM:617214] synonym: "spermatogenic failure 17; SPGF17" EXACT [] -synonym: "spermatogenic failure type 17" EXACT [MONDORULE:2, OMIM:617214] -synonym: "SPGF17" EXACT ABBREVIATION [OMIM:617214] +synonym: "spermatogenic failure type 17" EXACT [MONDORULE:2] +synonym: "SPGF17" EXACT ABBREVIATION [DOID:0070174, OMIM:617214] xref: DOID:0070174 {source="MONDO:equivalentTo"} xref: MEDGEN:934633 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617214 {source="MONDO:equivalentTo"} @@ -346358,7 +346422,7 @@ name: amelogenesis imperfecta, hypomaturation type, IIa6 subset: gard_rare {source="GARD:16211", source="MONDO:GARD"} subset: rare synonym: "AI2A6" EXACT ABBREVIATION [OMIM:617217] -synonym: "amelogenesis imperfecta, hypomaturation type, IIa6" EXACT [OMIM:617217] +synonym: "amelogenesis imperfecta, hypomaturation type, IIa6" EXACT [DOID:0080960, OMIM:617217] synonym: "amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6" EXACT [] xref: DOID:0080960 {source="MONDO:equivalentTo"} xref: GARD:16211 {source="MONDO:GARD"} @@ -346427,7 +346491,7 @@ synonym: "ATP13A2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern, MO synonym: "hereditary spastic paraplegia caused by mutation in ATP13A2" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 78, autosomal recessive" EXACT [OMIM:617225] synonym: "spastic paraplegia 78, autosomal recessive; SPG78" EXACT [] -synonym: "SPG78" EXACT ABBREVIATION [OMIM:617225] +synonym: "SPG78" EXACT ABBREVIATION [DOID:0112348, OMIM:617225, Orphanet:513436] xref: DOID:0112348 {source="MONDO:equivalentTo"} xref: GARD:17952 {source="MONDO:GARD"} xref: MEDGEN:1799316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -346452,10 +346516,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:478049"} subset: orphanet_rare {source="Orphanet:478049"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 31" EXACT [OMIM:617228] +synonym: "combined oxidative phosphorylation deficiency 31" EXACT [DOID:0111488, OMIM:617228] synonym: "combined oxidative phosphorylation deficiency caused by mutation in MIPEP" EXACT [MONDO:design_pattern] -synonym: "combined oxidative phosphorylation deficiency type 31" EXACT [MONDORULE:2, OMIM:617228] -synonym: "COXPD31" EXACT ABBREVIATION [OMIM:617228] +synonym: "combined oxidative phosphorylation deficiency type 31" EXACT [MONDORULE:2] +synonym: "COXPD31" EXACT ABBREVIATION [DOID:0111488, OMIM:617228] synonym: "MIPEP combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111488 {source="MONDO:equivalentTo"} xref: GARD:17865 {source="MONDO:GARD"} @@ -346481,10 +346545,10 @@ subset: ordo_disorder {source="Orphanet:480682"} subset: orphanet_rare {source="Orphanet:480682"} subset: rare synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive limb-girdle muscular dystrophy type 2Z" EXACT [OMIM:617232] -synonym: "LGMD2Z" EXACT ABBREVIATION [OMIM:617232, Orphanet:480682] -synonym: "limb-girdle muscular dystrophy type 2Z" EXACT [NCIT:C142082] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 21" EXACT [OMIM:617232, OMIM:genemap2] +synonym: "autosomal recessive limb-girdle muscular dystrophy type 2Z" EXACT [DOID:0080762, Orphanet:480682] +synonym: "LGMD2Z" EXACT ABBREVIATION [NCIT:C142082, Orphanet:480682] +synonym: "limb-girdle muscular dystrophy type 2Z" EXACT [NCIT:C142082, Orphanet:480682] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 21" EXACT [OMIM:617232] synonym: "muscular dystrophy, limb-girdle, type 2Z" EXACT [OMIM:617232] synonym: "POGLUT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080762 {source="MONDO:equivalentTo"} @@ -346509,11 +346573,11 @@ id: MONDO:0014978 name: obsolete preimplantation embryonic lethality 2 def: "OBSOLETE. Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "PADI6 preimplantation embryonic lethality" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "preimplantation embryonic lethality 2" EXACT [OMIM:617234] +synonym: "preimplantation embryonic lethality 2" EXACT [] synonym: "preimplantation embryonic lethality 2; PREMBL2" EXACT [] synonym: "preimplantation embryonic lethality caused by mutation in PADI6" EXACT [MONDO:design_pattern] -synonym: "preimplantation embryonic lethality type 2" EXACT [MONDORULE:1, OMIM:617234] -synonym: "PREMBL2" EXACT ABBREVIATION [OMIM:617234] +synonym: "preimplantation embryonic lethality type 2" EXACT [MONDORULE:1] +synonym: "PREMBL2" EXACT ABBREVIATION [] xref: OMIM:617234 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5091" xsd:anyURI @@ -346536,9 +346600,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0014980 name: cone-rod dystrophy and hearing loss subset: clingen {source="MONDO:CLINGEN"} -synonym: "cone-rod dystrophy and hearing loss" EXACT CLINGEN_LABEL [OMIM:617236] +synonym: "cone-rod dystrophy and hearing loss" EXACT CLINGEN_LABEL [OMIMPS:617236] synonym: "cone-rod dystrophy and hearing loss; CRDHL" EXACT [] -synonym: "CRDHL" EXACT ABBREVIATION [OMIM:617236] +synonym: "CRDHL" EXACT ABBREVIATION [] xref: OMIMPS:617236 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="EFO:0009151", source="OMIMPS:617236"} ! hereditary disease relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0014980 {source="MONDO:CLINGEN"} @@ -346552,13 +346616,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BCL11B primary immunodeficiency disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "IMD49" EXACT ABBREVIATION [OMIM:617237] -synonym: "immunodeficiency 49" EXACT [OMIM:617237] +synonym: "IMD49" EXACT ABBREVIATION [DOID:0111979, OMIM:617237] +synonym: "immunodeficiency 49" EXACT [DOID:0111979] synonym: "immunodeficiency 49; IMD49" EXACT [] -synonym: "immunodeficiency type 49" EXACT [MONDORULE:2, OMIM:617237] +synonym: "immunodeficiency type 49" EXACT [MONDORULE:2] synonym: "primary immunodeficiency disease caused by mutation in BCL11B" EXACT [MONDO:design_pattern] -synonym: "SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities" RELATED [OMIM:617237] -synonym: "severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities" RELATED [OMIM:617237] +synonym: "SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities" RELATED [] +synonym: "severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities" RELATED [] xref: DOID:0111979 {source="MONDO:equivalentTo"} xref: MEDGEN:934623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617237 {source="MONDO:equivalentTo"} @@ -346598,7 +346662,7 @@ subset: rare synonym: "CMS21" EXACT ABBREVIATION [DOID:0110672, OMIM:617239] synonym: "congenital myasthenic syndrome 21, presynaptic" EXACT [DOID:0110672] synonym: "congenital myasthenic syndrome caused by mutation in SLC18A3" EXACT [MONDO:design_pattern] -synonym: "congenital myasthenic syndrome type 21" EXACT [DOID:0110672, MONDORULE:2] +synonym: "congenital myasthenic syndrome type 21" EXACT [MONDORULE:2] synonym: "myasthenic syndrome, congenital, 21, presynaptic" EXACT [OMIM:617239] synonym: "SLC18A3 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110672 {source="MONDO:equivalentTo"} @@ -346614,8 +346678,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0014984 name: lung disease, immunodeficiency, and chromosome breakage syndrome; -synonym: "LICS" RELATED ABBREVIATION [OMIM:617241] -synonym: "lung disease, immunodeficiency, and chromosome breakage syndrome" RELATED [OMIM:617241] +synonym: "LICS" RELATED ABBREVIATION [] +synonym: "lung disease, immunodeficiency, and chromosome breakage syndrome" RELATED [] xref: MEDGEN:934620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617241 {source="MONDO:equivalentTo"} xref: UMLS:C4310653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934620"} @@ -346632,11 +346696,11 @@ subset: rare synonym: "Fanconi anaemia caused by mutation in MAD2L2" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type V" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in MAD2L2" EXACT [MONDO:design_pattern] -synonym: "Fanconi anemia complementation group type V" EXACT [DOID:0111080, MONDORULE:1] -synonym: "Fanconi Anemia, complementation Group 5" RELATED [OMIM:617243] -synonym: "Fanconi Anemia, complementation group type V" EXACT [MONDORULE:1, OMIM:617243] -synonym: "Fanconi Anemia, complementation group V" EXACT [OMIM:617243] -synonym: "Fanconi anemia, complementation GROUP V" RELATED [OMIM:617243] +synonym: "Fanconi anemia complementation group type V" EXACT [MONDORULE:1] +synonym: "Fanconi Anemia, complementation Group 5" RELATED [] +synonym: "Fanconi Anemia, complementation group type V" EXACT [MONDORULE:1] +synonym: "Fanconi Anemia, complementation group V" EXACT [] +synonym: "Fanconi anemia, complementation GROUP V" RELATED [] synonym: "FANCV" EXACT ABBREVIATION [DOID:0111080, OMIM:617243] synonym: "MAD2L2 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "MAD2L2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -346660,10 +346724,10 @@ subset: rare synonym: "Fanconi anaemia caused by mutation in RAD51" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type R" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in RAD51" EXACT [MONDO:design_pattern] -synonym: "Fanconi anemia complementation group type R" EXACT [DOID:0111090, MONDORULE:1] +synonym: "Fanconi anemia complementation group type R" EXACT [MONDORULE:1] synonym: "Fanconi Anemia, complementation group R" EXACT [OMIM:617244] -synonym: "Fanconi anemia, complementation GROUP R" RELATED [OMIM:617244] -synonym: "Fanconi Anemia, complementation group type R" EXACT [MONDORULE:1, OMIM:617244] +synonym: "Fanconi anemia, complementation GROUP R" RELATED [] +synonym: "Fanconi Anemia, complementation group type R" EXACT [MONDORULE:1] synonym: "FANCR" EXACT ABBREVIATION [DOID:0111090, OMIM:617244] synonym: "RAD51 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "RAD51 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -346687,10 +346751,10 @@ subset: rare synonym: "Fanconi anaemia caused by mutation in XRCC2" EXACT OMO:0003005 [] synonym: "Fanconi anaemia complementation group type U" EXACT OMO:0003005 [] synonym: "Fanconi anemia caused by mutation in XRCC2" EXACT [MONDO:design_pattern] -synonym: "Fanconi anemia complementation group type U" EXACT [DOID:0111085, MONDORULE:1] -synonym: "Fanconi Anemia, complementation group type U" EXACT [MONDORULE:1, OMIM:617247] +synonym: "Fanconi anemia complementation group type U" EXACT [MONDORULE:1] +synonym: "Fanconi Anemia, complementation group type U" EXACT [MONDORULE:1] synonym: "Fanconi Anemia, complementation group U" EXACT [OMIM:617247] -synonym: "Fanconi anemia, complementation GROUP U" RELATED [OMIM:617247] +synonym: "Fanconi anemia, complementation GROUP U" RELATED [] synonym: "FANCU" EXACT ABBREVIATION [DOID:0111085, OMIM:617247] synonym: "XRCC2 Fanconi anaemia" EXACT OMO:0003005 [] synonym: "XRCC2 Fanconi anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -346724,7 +346788,7 @@ synonym: "UHS2" EXACT ABBREVIATION [OMIM:617251] synonym: "uncombable hair syndrome 2" EXACT [OMIM:617251] synonym: "uncombable hair syndrome 2; UHS2" EXACT [] synonym: "uncombable hair syndrome caused by mutation in TGM3" EXACT [MONDO:design_pattern] -synonym: "uncombable hair syndrome type 2" EXACT [MONDORULE:1, OMIM:617251] +synonym: "uncombable hair syndrome type 2" EXACT [MONDORULE:1] xref: GARD:16216 {source="MONDO:GARD"} xref: MEDGEN:934616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617251 {source="MONDO:equivalentTo"} @@ -346746,7 +346810,7 @@ synonym: "UHS3" EXACT ABBREVIATION [OMIM:617252] synonym: "uncombable hair syndrome 3" EXACT [OMIM:617252] synonym: "uncombable hair syndrome 3; UHS3" EXACT [] synonym: "uncombable hair syndrome caused by mutation in TCHH" EXACT [MONDO:design_pattern] -synonym: "uncombable hair syndrome type 3" EXACT [MONDORULE:1, OMIM:617252] +synonym: "uncombable hair syndrome type 3" EXACT [MONDORULE:1] xref: GARD:16217 {source="MONDO:GARD"} xref: MEDGEN:934615 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617252 {source="MONDO:equivalentTo"} @@ -346766,9 +346830,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "NSMCE2 Seckel syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "SCKL10" EXACT ABBREVIATION [DOID:0070008, OMIM:617253] -synonym: "Seckel syndrome 10" EXACT [OMIM:617253] +synonym: "Seckel syndrome 10" EXACT [DOID:0070008, OMIM:617253] synonym: "Seckel syndrome caused by mutation in NSMCE2" EXACT [MONDO:design_pattern] -synonym: "Seckel syndrome type 10" EXACT [MONDORULE:2, OMIM:617253] +synonym: "Seckel syndrome type 10" EXACT [MONDORULE:2] xref: DOID:0070008 {source="MONDO:equivalentTo"} xref: GARD:18484 {source="MONDO:GARD"} xref: MEDGEN:934614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -346792,11 +346856,11 @@ def: "Any lissencephaly (disease) in which the cause of the disease is a mutatio subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "LIS8" EXACT ABBREVIATION [OMIM:617255] +synonym: "LIS8" EXACT ABBREVIATION [DOID:0112233, OMIM:617255] synonym: "lissencephaly (disease) caused by mutation in TMTC3" EXACT [] -synonym: "lissencephaly 8" EXACT [OMIM:617255] +synonym: "lissencephaly 8" EXACT [DOID:0112233, OMIM:617255] synonym: "lissencephaly 8; LIS8" EXACT [] -synonym: "lissencephaly type 8" EXACT [MONDORULE:1, OMIM:617255] +synonym: "lissencephaly type 8" EXACT [MONDORULE:1] synonym: "TMTC3 lissencephaly (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0112233 {source="MONDO:equivalentTo"} xref: MEDGEN:934613 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -346815,11 +346879,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MFM8" RELATED ABBREVIATION [OMIM:617258] +synonym: "MFM8" RELATED ABBREVIATION [] synonym: "myofibrillar myopathy (disease) caused by mutation in PYROXD1" EXACT [] -synonym: "myofibrillar myopathy 8" EXACT CLINGEN_LABEL [] +synonym: "myofibrillar myopathy 8" EXACT CLINGEN_LABEL [DOID:0080308] synonym: "myopathy, myofibrillar, 8" EXACT [OMIM:617258] -synonym: "myopathy, myofibrillar, type 8" EXACT [MONDORULE:1, OMIM:617258] +synonym: "myopathy, myofibrillar, type 8" EXACT [MONDORULE:1] synonym: "PYROXD1 myofibrillar myopathy (disease)" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0080308 {source="MONDO:equivalentTo"} xref: MEDGEN:934612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -346871,11 +346935,11 @@ synonym: "autosomal recessive intellectual disability 58" RELATED [GARD:0013361] synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2" EXACT [MONDO:design_pattern] synonym: "ELP2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ELP2-related disorder" RELATED [GARD:0013361] -synonym: "intellectual developmental disorder, autosomal recessive 58" EXACT [OMIM:617270, OMIM:genemap2] -synonym: "intellectual disability, autosomal recessive 58" EXACT [OMIM:617270] -synonym: "intellectual disability, autosomal recessive type 58" EXACT [MONDORULE:2, OMIM:617270] +synonym: "intellectual developmental disorder, autosomal recessive 58" EXACT [OMIM:617270] +synonym: "intellectual disability, autosomal recessive 58" EXACT [] +synonym: "intellectual disability, autosomal recessive type 58" EXACT [MONDORULE:2] synonym: "mental retardation, autosomal recessive 58" EXACT DEPRECATED [OMIM:617270] -synonym: "mental retardation, autosomal recessive type 58" EXACT DEPRECATED [MONDORULE:2, OMIM:617270] +synonym: "mental retardation, autosomal recessive type 58" EXACT DEPRECATED [MONDORULE:2] synonym: "MRT58" EXACT ABBREVIATION [OMIM:617270] xref: DOID:0081220 {source="MONDO:equivalentTo"} xref: GARD:13361 {source="MONDO:GARD"} @@ -346898,8 +346962,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "MAPKBP1 nephronophthisis (disease)" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "nephronophthisis (disease) caused by mutation in MAPKBP1" EXACT [] -synonym: "nephronophthisis 20" EXACT CLINGEN_LABEL [OMIM:617271] -synonym: "nephronophthisis type 20" EXACT [DOID:0111127, MONDORULE:2, OMIM:617271] +synonym: "nephronophthisis 20" EXACT CLINGEN_LABEL [DOID:0111127, OMIM:617271] +synonym: "nephronophthisis type 20" EXACT [MONDORULE:2] synonym: "NPHP20" EXACT ABBREVIATION [DOID:0111127, OMIM:617271] xref: DOID:0111127 {source="MONDO:equivalentTo"} xref: GARD:18181 {source="MONDO:GARD"} @@ -346920,7 +346984,7 @@ subset: gard_rare {source="GARD:18227", source="MONDO:GARD"} subset: rare synonym: "glaucoma 3, primary congenital, E" EXACT [OMIM:617272] synonym: "glaucoma 3, primary congenital, E; GLC3E" EXACT [] -synonym: "glaucoma 3, primary congenital, type E" EXACT [MONDORULE:1, OMIM:617272] +synonym: "glaucoma 3, primary congenital, type E" EXACT [MONDORULE:1] synonym: "GLC3E" EXACT ABBREVIATION [OMIM:617272] xref: GARD:18227 {source="MONDO:GARD"} xref: MEDGEN:934606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -346942,7 +347006,7 @@ synonym: "STHAG9" EXACT ABBREVIATION [OMIM:617275] synonym: "tooth agenesis caused by mutation in GREM2" EXACT [MONDO:design_pattern] synonym: "tooth agenesis, selective, 9" EXACT [OMIM:617275] synonym: "tooth agenesis, selective, 9; STHAG9" EXACT [] -synonym: "tooth agenesis, selective, type 9" EXACT [MONDORULE:1, OMIM:617275] +synonym: "tooth agenesis, selective, type 9" EXACT [MONDORULE:1] xref: MEDGEN:934605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617275 {source="MONDO:equivalentTo"} xref: UMLS:C4310638 {source="MONDO:equivalentTo", source="MEDGEN:934605", source="MONDO:MEDGEN"} @@ -346960,13 +347024,13 @@ subset: gard_rare {source="GARD:16218", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AP3B2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DEE48" EXACT ABBREVIATION [OMIM:617276] -synonym: "developmental and epileptic encephalopathy 48" EXACT [OMIM:617276, OMIM:genemap2] +synonym: "DEE48" EXACT ABBREVIATION [DOID:0080448, OMIM:617276] +synonym: "developmental and epileptic encephalopathy 48" EXACT [DOID:0080448, OMIM:617276] synonym: "early infantile epileptic encephalopathy caused by mutation in AP3B2" EXACT [MONDO:design_pattern] -synonym: "EIEE48" EXACT ABBREVIATION [OMIM:617276] +synonym: "EIEE48" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 48" EXACT [OMIM:617276] synonym: "epileptic encephalopathy, early infantile, 48; EIEE48" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 48" EXACT [MONDORULE:2, OMIM:617276] +synonym: "epileptic encephalopathy, early infantile, type 48" EXACT [MONDORULE:2] xref: DOID:0080448 {source="MONDO:equivalentTo"} xref: GARD:16218 {source="MONDO:GARD"} xref: MEDGEN:934604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -346987,7 +347051,7 @@ subset: rare synonym: "ATFB18" EXACT ABBREVIATION [OMIM:617280] synonym: "atrial fibrillation, familial, 18" EXACT [OMIM:617280] synonym: "atrial fibrillation, familial, 18; ATFB18" EXACT [] -synonym: "atrial fibrillation, familial, type 18" EXACT [MONDORULE:2, OMIM:617280] +synonym: "atrial fibrillation, familial, type 18" EXACT [MONDORULE:2] synonym: "familial atrial fibrillation caused by mutation in MYL4" EXACT [MONDO:design_pattern] synonym: "MYL4 familial atrial fibrillation" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:16219 {source="MONDO:GARD"} @@ -347006,14 +347070,14 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE49" EXACT ABBREVIATION [OMIM:617281] +synonym: "DEE49" EXACT ABBREVIATION [DOID:0080441, OMIM:617281] synonym: "DENND5A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "developmental and epileptic encephalopathy 49" EXACT [OMIM:617281, OMIM:genemap2] +synonym: "developmental and epileptic encephalopathy 49" EXACT [DOID:0080441, OMIM:617281] synonym: "early infantile epileptic encephalopathy caused by mutation in DENND5A" EXACT [MONDO:design_pattern] -synonym: "EIEE49" EXACT ABBREVIATION [OMIM:617281] +synonym: "EIEE49" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 49" EXACT [OMIM:617281] synonym: "epileptic encephalopathy, early infantile, 49; EIEE49" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 49" EXACT [MONDORULE:2, OMIM:617281] +synonym: "epileptic encephalopathy, early infantile, type 49" EXACT [MONDORULE:2] xref: DOID:0080441 {source="MONDO:equivalentTo"} xref: MEDGEN:934602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617281 {source="MONDO:equivalentTo"} @@ -347034,10 +347098,10 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:508093"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dystonia 29, childhood-onset" RELATED [OMIM:617282] +synonym: "dystonia 29, childhood-onset" RELATED [] synonym: "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" EXACT [OMIM:617282] synonym: "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG" EXACT [] -synonym: "DYTOABG" EXACT ABBREVIATION [OMIM:617282] +synonym: "DYTOABG" EXACT ABBREVIATION [DOID:0081419, OMIM:617282] xref: DOID:0081419 {source="MONDO:equivalentTo"} xref: GARD:13488 {source="MONDO:GARD"} xref: MEDGEN:934601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -347060,10 +347124,10 @@ subset: ordo_disorder {source="Orphanet:589618"} subset: orphanet_rare {source="Orphanet:589618"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dystonia 28, childhood-onset" EXACT CLINGEN_LABEL [OMIM:617284] +synonym: "dystonia 28, childhood-onset" EXACT CLINGEN_LABEL [DOID:0060936, OMIM:617284] synonym: "dystonia 28, childhood-onset; DYT28" EXACT [] synonym: "dystonic disorder caused by mutation in KMT2B" EXACT [MONDO:design_pattern] -synonym: "DYT28" EXACT ABBREVIATION [OMIM:617284] +synonym: "DYT28" EXACT ABBREVIATION [DOID:0060936, OMIM:617284, Orphanet:589618] synonym: "KMT2B dystonic disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060936 {source="MONDO:equivalentTo"} xref: EFO:0009301 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -347084,7 +347148,7 @@ name: epilepsy, early-onset, vitamin B6-dependent def: "A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23." [DOID:0080769] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "epilepsy, early-onset, vitamin B6-dependent" EXACT [OMIM:617290] +synonym: "epilepsy, early-onset, vitamin B6-dependent" EXACT [] synonym: "epilepsy, early-onset, vitamin B6-dependent; EPVB6D" EXACT [] synonym: "EPVB6D" EXACT ABBREVIATION [OMIM:617290] xref: DOID:0080769 {source="MONDO:equivalentTo"} @@ -347104,12 +347168,12 @@ subset: ordo_disorder {source="Orphanet:508529"} subset: orphanet_rare {source="Orphanet:508529"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EBSSH" EXACT ABBREVIATION [OMIM:617294] -synonym: "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" EXACT [OMIM:617294, OMIM:genemap2] +synonym: "EBSSH" EXACT ABBREVIATION [] +synonym: "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" EXACT [] synonym: "epidermolysis bullosa simplex, generalized, with scarring and hair loss" EXACT [OMIM:617294] synonym: "epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH" EXACT [] synonym: "generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" EXACT OMO:0003005 [] -synonym: "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" EXACT [OMIM:617294] +synonym: "generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss" EXACT [] xref: GARD:17951 {source="MONDO:GARD"} xref: MEDGEN:934598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617294 {source="Orphanet:508529", source="MONDO:equivalentTo"} @@ -347134,7 +347198,7 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:521390"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SINO" RELATED ABBREVIATION [OMIM:617296] +synonym: "SINO" RELATED ABBREVIATION [] synonym: "spastic paraplegia, intellectual disability, nystagmus, and obesity" EXACT [OMIM:617296] xref: GARD:17957 {source="MONDO:GARD"} xref: MEDGEN:924883 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -347152,9 +347216,9 @@ name: amelogenesis imperfecta, type 1J subset: gard_rare {source="GARD:16220", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AI1J" RELATED ABBREVIATION [OMIM:617297] +synonym: "AI1J" RELATED ABBREVIATION [] synonym: "amelogenesis imperfecta, type 1J" EXACT [OMIM:617297] -synonym: "amelogenesis imperfecta, type Ij" EXACT [OMIM:617297] +synonym: "amelogenesis imperfecta, type Ij" EXACT [DOID:0080953] xref: DOID:0080953 {source="MONDO:equivalentTo"} xref: EFO:0009302 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:16220 {source="MONDO:GARD"} @@ -347173,8 +347237,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: predisposition subset: rare -synonym: "HFASD" EXACT ABBREVIATION [OMIM:617300] -synonym: "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to" EXACT [OMIM:617300] +synonym: "HFASD" EXACT ABBREVIATION [] +synonym: "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to" EXACT [] synonym: "hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD" EXACT [] xref: MEDGEN:934596 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617300 {source="MONDO:equivalentTo"} @@ -347195,8 +347259,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atypical NKA" EXACT [Orphanet:289863] synonym: "atypical non-ketotic hyperglycinemia" EXACT [Orphanet:289863] -synonym: "GLYCINE encephalopathy with normal serum GLYCINE" RELATED [OMIM:617301] -synonym: "Glycine encephalopathy with normal serum Glycine" RELATED [OMIM:617301] +synonym: "GLYCINE encephalopathy with normal serum GLYCINE" RELATED [] +synonym: "Glycine encephalopathy with normal serum Glycine" RELATED [] xref: GARD:17334 {source="MONDO:GARD"} xref: ICD10CM:E72.5 {source="Orphanet:289863/attributed", source="Orphanet:289863/ntbt", source="Orphanet:289863"} xref: icd11.foundation:51420481 {source="MONDO:equivalentTo"} @@ -347215,9 +347279,9 @@ subset: gard_rare {source="GARD:18201", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive isolated optic atrophy caused by mutation in YME1L1" EXACT [MONDO:design_pattern] -synonym: "OPA11" EXACT ABBREVIATION [OMIM:617302] -synonym: "optic atrophy 11" EXACT [OMIM:617302] -synonym: "optic atrophy type 11" EXACT [MONDORULE:2, OMIM:617302] +synonym: "OPA11" EXACT ABBREVIATION [DOID:0111436, OMIM:617302] +synonym: "optic atrophy 11" EXACT [DOID:0111436, OMIM:617302] +synonym: "optic atrophy type 11" EXACT [MONDORULE:2] synonym: "YME1L1 autosomal recessive isolated optic atrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111436 {source="MONDO:equivalentTo"} xref: GARD:18201 {source="MONDO:GARD"} @@ -347267,10 +347331,10 @@ subset: gard_rare {source="GARD:16221", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "REEP6 retinitis pigmentosa" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "retinitis pigmentosa 77" EXACT [OMIM:617304] +synonym: "retinitis pigmentosa 77" EXACT [DOID:0080350, OMIM:617304] synonym: "retinitis pigmentosa caused by mutation in REEP6" EXACT [MONDO:design_pattern] -synonym: "retinitis pigmentosa type 77" EXACT [MONDORULE:2, OMIM:617304] -synonym: "RP77" RELATED ABBREVIATION [OMIM:617304] +synonym: "retinitis pigmentosa type 77" EXACT [MONDORULE:2] +synonym: "RP77" RELATED ABBREVIATION [] xref: DOID:0080350 {source="MONDO:equivalentTo"} xref: GARD:16221 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="DOID:0080350"} @@ -347294,7 +347358,7 @@ subset: rare synonym: "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" EXACT [OMIM:617306] synonym: "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD" EXACT [] synonym: "COMMAD" EXACT ABBREVIATION [OMIM:617306] -synonym: "COMMAD syndrome" EXACT [OMIM:617306, OMIM:genemap2] +synonym: "COMMAD syndrome" EXACT [Orphanet:603494] xref: GARD:18021 {source="MONDO:GARD"} xref: MEDGEN:934592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617306 {source="MONDO:equivalentTo"} @@ -347313,10 +347377,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "ACOX2 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "bile acid synthesis defect, congenital, 6" EXACT [OMIM:617308] -synonym: "bile acid synthesis defect, congenital, type 6" EXACT [MONDORULE:1, OMIM:617308] +synonym: "bile acid synthesis defect, congenital, type 6" EXACT [MONDORULE:1] synonym: "CBAS6" EXACT ABBREVIATION [DOID:0111067, OMIM:617308] synonym: "congenital bile acid synthesis defect caused by mutation in ACOX2" EXACT [MONDO:design_pattern] -synonym: "congenital bile acid synthesis defect type 6" EXACT [DOID:0111067, MONDORULE:1] +synonym: "congenital bile acid synthesis defect type 6" EXACT [MONDORULE:1] xref: DOID:0111067 {source="MONDO:equivalentTo"} xref: MEDGEN:934591 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617308 {source="MONDO:equivalentTo", source="DOID:0111067"} @@ -347335,9 +347399,9 @@ name: anterior segment dysgenesis 6 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anterior segment dysgenesis 6" EXACT [OMIM:617315] -synonym: "anterior segment dysgenesis 6, multiple subtypes" EXACT [OMIM:617315, OMIM:genemap2] -synonym: "anterior segment dysgenesis type 6" EXACT [MONDORULE:1, OMIM:617315] +synonym: "anterior segment dysgenesis 6" EXACT [DOID:0080611, OMIM:617315] +synonym: "anterior segment dysgenesis 6, multiple subtypes" EXACT [] +synonym: "anterior segment dysgenesis type 6" EXACT [MONDORULE:1] synonym: "ASGD6" EXACT ABBREVIATION [OMIM:617315] xref: DOID:0080611 {source="MONDO:equivalentTo"} xref: MEDGEN:934590 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -347359,9 +347423,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:519388"} subset: orphanet_rare {source="Orphanet:519388"} subset: rare -synonym: "anterior segment dysgenesis 8" EXACT [OMIM:617319] +synonym: "anterior segment dysgenesis 8" EXACT [DOID:0080613, OMIM:617319] synonym: "anterior segment dysgenesis caused by mutation in CPAMD8" EXACT [MONDO:design_pattern] -synonym: "anterior segment dysgenesis type 8" EXACT [MONDORULE:1, OMIM:617319] +synonym: "anterior segment dysgenesis type 8" EXACT [MONDORULE:1] synonym: "ASGD8" EXACT ABBREVIATION [OMIM:617319] synonym: "CPAMD8 anterior segment dysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CPAMD8-related anterior segment dysgenesis" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40077/] @@ -347387,7 +347451,7 @@ subset: rare synonym: "ARCI12" EXACT ABBREVIATION [OMIM:617320] synonym: "ichthyosis, congenital, autosomal recessive 12" EXACT [OMIM:617320] synonym: "ichthyosis, congenital, autosomal recessive 12; ARCI12" EXACT [] -synonym: "ichthyosis, congenital, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:617320] +synonym: "ichthyosis, congenital, autosomal recessive type 12" EXACT [MONDORULE:2] xref: MEDGEN:934588 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617320 {source="MONDO:equivalentTo"} xref: UMLS:C4310621 {source="MEDGEN:934588", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -347424,10 +347488,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1" EXACT [MONDO:design_pattern] synonym: "IMPA1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "intellectual disability, autosomal recessive 59" EXACT [OMIM:617323] -synonym: "intellectual disability, autosomal recessive type 59" EXACT [MONDORULE:2, OMIM:617323] +synonym: "intellectual disability, autosomal recessive 59" EXACT [] +synonym: "intellectual disability, autosomal recessive type 59" EXACT [MONDORULE:2] synonym: "mental retardation, autosomal recessive 59" EXACT DEPRECATED [OMIM:617323] -synonym: "mental retardation, autosomal recessive type 59" EXACT DEPRECATED [MONDORULE:2, OMIM:617323] +synonym: "mental retardation, autosomal recessive type 59" EXACT DEPRECATED [MONDORULE:2] synonym: "MRT59" EXACT ABBREVIATION [OMIM:617323] xref: DOID:0081221 {source="MONDO:equivalentTo"} xref: MEDGEN:934586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -347447,7 +347511,7 @@ subset: ordo_disorder {source="Orphanet:658843"} subset: orphanet_rare {source="Orphanet:658843"} subset: rare synonym: "HADDS" EXACT ABBREVIATION [OMIM:617330] -synonym: "hypotonia, ataxia, and delayed development syndrome" EXACT [OMIM:617330] +synonym: "hypotonia, ataxia, and delayed development syndrome" EXACT [DOID:0081176, OMIM:617330] synonym: "hypotonia, ataxia, and delayed development syndrome; HADDS" EXACT [] xref: DOID:0081176 {source="MONDO:equivalentTo"} xref: MEDGEN:934585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -347483,11 +347547,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MYPN nemaline myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "MYPN-related myopathy" EXACT CLINGEN_LABEL [] -synonym: "NEM11" EXACT ABBREVIATION [DOID:0110933, OMIM:617336] -synonym: "nemaline myopathy 11" EXACT [https://clinicalgenome.org/affiliation/40031/] +synonym: "NEM11" EXACT ABBREVIATION [DOID:0110933] +synonym: "nemaline myopathy 11" EXACT [DOID:0110933, https://clinicalgenome.org/affiliation/40031/] synonym: "nemaline myopathy 11, autosomal recessive" EXACT [DOID:0110933, OMIM:617336] synonym: "nemaline myopathy caused by mutation in MYPN" EXACT [MONDO:design_pattern] -synonym: "nemaline myopathy type 11" EXACT [DOID:0110933, MONDORULE:2] +synonym: "nemaline myopathy type 11" EXACT [MONDORULE:2] xref: DOID:0110933 {source="MONDO:equivalentTo"} xref: GARD:16222 {source="MONDO:GARD"} xref: MEDGEN:1384302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -347506,8 +347570,8 @@ def: "Any ectodermal dysplasia syndrome in which the cause of the disease is a m subset: gard_rare {source="GARD:18593", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD12" EXACT ABBREVIATION [OMIM:617337] -synonym: "ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type" EXACT [OMIM:617337] +synonym: "ECTD12" EXACT ABBREVIATION [DOID:0111652, OMIM:617337] +synonym: "ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type" EXACT [DOID:0111652, OMIM:617337] synonym: "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12" EXACT [] synonym: "ectodermal dysplasia syndrome caused by mutation in KDF1" EXACT [MONDO:design_pattern] synonym: "KDF1 ectodermal dysplasia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -347528,13 +347592,13 @@ def: "Any early infantile epileptic encephalopathy in which the cause of the dis subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE51" EXACT ABBREVIATION [OMIM:617339] -synonym: "developmental and epileptic encephalopathy 51" EXACT [OMIM:617339, OMIM:genemap2] +synonym: "DEE51" EXACT ABBREVIATION [DOID:0080433, OMIM:617339] +synonym: "developmental and epileptic encephalopathy 51" EXACT [DOID:0080433, OMIM:617339] synonym: "early infantile epileptic encephalopathy caused by mutation in MDH2" EXACT [MONDO:design_pattern] -synonym: "EIEE51" EXACT ABBREVIATION [OMIM:617339] +synonym: "EIEE51" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 51" EXACT [OMIM:617339] synonym: "epileptic encephalopathy, early infantile, 51; EIEE51" EXACT [] -synonym: "epileptic encephalopathy, early infantile, type 51" EXACT [MONDORULE:2, OMIM:617339] +synonym: "epileptic encephalopathy, early infantile, type 51" EXACT [MONDORULE:2] synonym: "MDH2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080433 {source="MONDO:equivalentTo"} xref: MEDGEN:1372686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -347554,9 +347618,9 @@ subset: gard_rare {source="GARD:18442", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "cerebroretinal microangiopathy with calcifications and cysts 2" EXACT [OMIM:617341] -synonym: "cerebroretinal microangiopathy with calcifications and cysts type 2" EXACT [MONDORULE:4, OMIM:617341] +synonym: "cerebroretinal microangiopathy with calcifications and cysts type 2" EXACT [MONDORULE:4] synonym: "Coats plus syndrome caused by mutation in STN1" EXACT [MONDO:design_pattern] -synonym: "CRMCC2" RELATED ABBREVIATION [OMIM:617341] +synonym: "CRMCC2" RELATED ABBREVIATION [] synonym: "STN1 Coats plus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18442 {source="MONDO:GARD"} xref: MEDGEN:1390862 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -347577,7 +347641,7 @@ subset: ordo_disorder {source="Orphanet:99879"} subset: orphanet_rare {source="Orphanet:99879"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial isolated hyperparathyroidism" EXACT [NCIT:C94830] +synonym: "familial isolated hyperparathyroidism" EXACT [icd11.foundation:1799621215, NCIT:C94830, Orphanet:99879] synonym: "FIHP" EXACT ABBREVIATION [NCIT:C94830] synonym: "FIHPT" EXACT ABBREVIATION [Orphanet:99879] xref: GARD:16923 {source="MONDO:GARD"} @@ -347602,7 +347666,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:10"} subset: orphanet_rare {source="Orphanet:10"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "48, XXYY Syndrome" EXACT [NORD:2038] +synonym: "48, XXYY Syndrome" EXACT [NCIT:C89801, NORD:2038] synonym: "48, XXYY syndrome" EXACT [NCIT:C89801] synonym: "48,XXYY Klinefelter syndrome" RELATED [GARD:0005677] synonym: "48,XXYY variant of Klinefelter's syndrome" RELATED [GARD:0005677] @@ -347659,7 +347723,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:100002"} subset: orphanet_rare {source="Orphanet:100002"} subset: rare -synonym: "soft tissue perineurioma" EXACT [Orphanet:100002] +synonym: "soft tissue perineurioma" EXACT [NCIT:C6912, Orphanet:100002] xref: GARD:19730 {source="MONDO:GARD"} xref: icd11.foundation:691853283 {source="MONDO:equivalentTo"} xref: MEDGEN:1643216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -347679,7 +347743,7 @@ subset: ordo_disorder {source="Orphanet:100003"} subset: orphanet_rare {source="Orphanet:100003"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intraneural perineurioma" EXACT [DOID:4696, NCIT:C6911] +synonym: "intraneural perineurioma" EXACT [DOID:4696, icd11.foundation:362421359, NCIT:C6911, Orphanet:100003] synonym: "intraneural perineurioma (WHO grade I)" EXACT [NCIT:C6911] xref: DOID:4696 {source="MONDO:equivalentTo"} xref: GARD:10921 {source="MONDO:GARD"} @@ -347704,9 +347768,9 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:100006"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABetaE22Q amyloidosis" EXACT [Orphanet:100006] -synonym: "cerebral amyloid angiopathy, APP-related, Dutch variant" EXACT [DOID:0070028] +synonym: "cerebral amyloid angiopathy, APP-related, Dutch variant" EXACT [] synonym: "HCHWA, Dutch type" EXACT [Orphanet:100006] -synonym: "HCHWA-D" EXACT [Orphanet:100006] +synonym: "HCHWA-D" EXACT ABBREVIATION [Orphanet:100006] synonym: "hereditary cerebral haemorrhage with amyloidosis, Dutch type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Dutch type" EXACT [Orphanet:100006] xref: GARD:16929 {source="MONDO:GARD"} @@ -347841,12 +347905,12 @@ subset: gard_rare {source="GARD:19737", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:100019"} subset: rare -synonym: "MDS-EB-1" EXACT [NCIT:C7167] -synonym: "myelodysplastic syndrome with Excess blasts-1" EXACT [NCIT:C7167] -synonym: "RAEB-1" EXACT [NCIT:C7167, Orphanet:100019] -synonym: "RAEB-I" EXACT [NCIT:C7167] +synonym: "MDS-EB-1" EXACT [] +synonym: "myelodysplastic syndrome with Excess blasts-1" EXACT [] +synonym: "RAEB-1" EXACT ABBREVIATION [Orphanet:100019] +synonym: "RAEB-I" EXACT [] synonym: "refractory anaemia with excess blasts type 1" RELATED OMO:0003005 [] -synonym: "refractory anemia with excess blasts type 1" RELATED [Orphanet:100019] +synonym: "refractory anemia with excess blasts type 1" RELATED [] xref: GARD:19737 {source="MONDO:GARD"} xref: ICD10CM:D46.2 {source="Orphanet:100019", source="Orphanet:100019/ntbt"} xref: MEDGEN:231145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -347863,12 +347927,12 @@ subset: gard_rare {source="GARD:19738", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:100020"} subset: rare -synonym: "MDS-EB-2" EXACT [NCIT:C7168] +synonym: "MDS-EB-2" EXACT ABBREVIATION [NCIT:C7168] synonym: "myelodysplastic syndrome with Excess blasts-2" EXACT [NCIT:C7168] -synonym: "RAEB-2" EXACT [NCIT:C7168, Orphanet:100020] -synonym: "RAEB-II" EXACT [NCIT:C7168] +synonym: "RAEB-2" EXACT ABBREVIATION [NCIT:C7168, Orphanet:100020] +synonym: "RAEB-II" EXACT ABBREVIATION [NCIT:C7168] synonym: "refractory anaemia with excess blasts type 2" RELATED OMO:0003005 [] -synonym: "refractory anemia with excess blasts type 2" RELATED [Orphanet:100020] +synonym: "refractory anemia with excess blasts type 2" RELATED [] xref: GARD:19738 {source="MONDO:GARD"} xref: ICD10CM:D46.2 {source="Orphanet:100020/ntbt", source="Orphanet:100020"} xref: NCIT:C7168 {source="MONDO:equivalentTo"} @@ -347909,8 +347973,8 @@ subset: gard_rare {source="GARD:19741", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:100024"} subset: rare -synonym: "mu chain disease" EXACT [MONDO:0000658] -synonym: "mu heavy chain disease" EXACT [NCIT:C3892] +synonym: "mu chain disease" EXACT [DOID:0060128, MONDO:0000658] +synonym: "mu heavy chain disease" EXACT [icd11.foundation:963887455, NCIT:C3892] synonym: "mu-HCD" EXACT [Orphanet:100024] xref: DOID:0060128 {source="MONDO:equivalentTo"} xref: GARD:19741 {source="MONDO:GARD"} @@ -347932,15 +347996,15 @@ subset: gard_rare {source="GARD:19742", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:100025"} subset: rare -synonym: "alpha chain disease" EXACT [MONDO:0000656] -synonym: "Alpha heavy chain disease" EXACT [NCIT:C3132] +synonym: "alpha chain disease" EXACT [DOID:0060126, MONDO:0000656] +synonym: "Alpha heavy chain disease" EXACT [icd11.foundation:680227490, NCIT:C3132] synonym: "Alpha-HCD" EXACT [Orphanet:100025] synonym: "Immunoproliferative small intestinal disease" EXACT [NCIT:C3132, Orphanet:100025] synonym: "IPSID" EXACT ABBREVIATION [NCIT:C3132, Orphanet:100025] synonym: "Mediterranean abdominal lymphoma" EXACT [NCIT:C3132] -synonym: "Mediterranean lymphoma" EXACT [Orphanet:100025] -synonym: "Mediterraneanl lymphoma" EXACT [NCIT:C3132] -synonym: "Seligmann's disease" RELATED [DOID:0060126, Wikipedia:Heavy_chain_disease] +synonym: "Mediterranean lymphoma" EXACT [NCIT:C3132, Orphanet:100025] +synonym: "Mediterraneanl lymphoma" EXACT [] +synonym: "Seligmann's disease" RELATED [Wikipedia:Heavy_chain_disease] xref: DOID:0060126 {source="MONDO:equivalentTo"} xref: GARD:19742 {source="MONDO:GARD"} xref: ICD10CM:C88.3 {source="Orphanet:100025/ntbt", source="Orphanet:100025"} @@ -347962,9 +348026,9 @@ subset: gard_rare {source="GARD:10346", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:100026"} subset: rare -synonym: "Franklin disease" EXACT [NCIT:C3083, Orphanet:100026] +synonym: "Franklin disease" EXACT [icd11.foundation:705015637, NCIT:C3083, Orphanet:100026] synonym: "Franklin's disease" EXACT [DOID:0060127, NCIT:C3083, Wikipedia:Heavy_chain_disease] -synonym: "gamma heavy chain disease" EXACT [MONDO:0000657, NCIT:C3083] +synonym: "gamma heavy chain disease" EXACT [DOID:0060127, icd11.foundation:705015637, MONDO:0000657, NCIT:C3083] synonym: "gamma-HCD" EXACT [Orphanet:100026] xref: DOID:0060127 {source="MONDO:equivalentTo"} xref: GARD:10346 {source="MONDO:GARD"} @@ -348074,7 +348138,7 @@ name: obsolete primary interstitial lung disease specific to childhood due to pu def: "OBSOLETE. Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation." [Orphanet:100049] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary interstitial lung disease specific to childhood' subset: ordo_group_of_disorders {source="Orphanet:100049"} -synonym: "primary ILD specific to childhood due to pulmonary surfactant protein anomalies" EXACT [Orphanet:100049] +synonym: "primary ILD specific to childhood due to pulmonary surfactant protein anomalies" EXACT [] xref: Orphanet:100049 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -348092,7 +348156,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:100050"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HAE 1" EXACT [Orphanet:100050] -synonym: "HAE-I" EXACT [Orphanet:100050] +synonym: "HAE-I" EXACT ABBREVIATION [Orphanet:100050] synonym: "hereditary angioneurotic edema type 1" EXACT [Orphanet:100050] synonym: "hereditary angioneurotic oedema type 1" EXACT OMO:0003005 [] xref: GARD:16933 {source="MONDO:GARD"} @@ -348116,7 +348180,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:100051"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HAE 2" EXACT [Orphanet:100051] -synonym: "HAE-II" EXACT [Orphanet:100051] +synonym: "HAE-II" EXACT ABBREVIATION [Orphanet:100051] synonym: "hereditary angioneurotic edema type 2" EXACT [Orphanet:100051] synonym: "hereditary angioneurotic oedema type 2" EXACT OMO:0003005 [] xref: GARD:16934 {source="MONDO:GARD"} @@ -348171,8 +348235,8 @@ subset: gard_rare {source="GARD:16936", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:100057"} subset: orphanet_rare {source="Orphanet:100057"} subset: rare -synonym: "AEACEI" RELATED ABBREVIATION [OMIM:300909] -synonym: "angioedema induced by ACE inhibitors, susceptibility to" RELATED [OMIM:300909] +synonym: "AEACEI" RELATED ABBREVIATION [] +synonym: "angioedema induced by ACE inhibitors, susceptibility to" RELATED [] synonym: "Raas-blocker-induced angioedema" EXACT [Orphanet:100057] synonym: "Raas-blocker-induced angioneurotic edema" EXACT [Orphanet:100057] synonym: "Raas-blocker-induced angioneurotic oedema" EXACT OMO:0003005 [] @@ -348180,7 +348244,7 @@ synonym: "RAE" EXACT ABBREVIATION [Orphanet:100057] synonym: "reactive angioendotheliomatosis" RELATED [GARD:0009445] synonym: "renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema" EXACT [Orphanet:100057] synonym: "renin-angiotensin-aldosterone system-blocker-induced angioneurotic oedema" EXACT OMO:0003005 [] -synonym: "susceptibility to angioedema induced by ace inhibitors" RELATED [OMIM:300909] +synonym: "susceptibility to angioedema induced by ace inhibitors" RELATED [] xref: GARD:16936 {source="MONDO:GARD"} xref: ICD10CM:T78.3 {source="Orphanet:100057", source="Orphanet:100057/ntbt"} xref: MEDGEN:725846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -348208,7 +348272,7 @@ subset: orphanet_rare {source="Orphanet:100070"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Agramatic variant of PPA" EXACT [Orphanet:100070] -synonym: "Agramatic variant of primary progressive aphasia" EXACT [Orphanet:100070] +synonym: "Agramatic variant of primary progressive aphasia" EXACT [DOID:0081390, Orphanet:100070] synonym: "non-fluent primary progressive aphasia" RELATED [GARD:0010793] synonym: "non-fluent variant PPA" EXACT [Orphanet:100070] synonym: "Primary Progressive Nonfluent aphasia" EXACT [NCIT:C85025] @@ -348239,7 +348303,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:100071"} subset: orphanet_rare {source="Orphanet:100071"} subset: rare synonym: "Mosaic trisomy chromosome 3" EXACT [Orphanet:100071] -synonym: "Mosaic trisomy type 3" EXACT [MONDORULE:1, Orphanet:100071] +synonym: "Mosaic trisomy type 3" EXACT [MONDORULE:1] synonym: "trisomy 3 mosaicism" EXACT [Orphanet:100071] xref: GARD:5342 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:100071", source="Orphanet:100071/attributed", source="Orphanet:100071/ntbt"} @@ -348284,10 +348348,10 @@ synonym: "gastric NET" EXACT [NCIT:C95871] synonym: "gastric NET G1/2" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "gastric neuroendocrine tumor" EXACT [NCIT:C95871] synonym: "gastric neuroendocrine tumour" EXACT OMO:0003005 [] -synonym: "gastric well differentiated endocrine tumor" EXACT [NCIT:C95871] -synonym: "gastric well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C95871] +synonym: "gastric well differentiated endocrine tumor" EXACT [] +synonym: "gastric well differentiated endocrine tumor/carcinoma" EXACT [] synonym: "gastric well differentiated endocrine tumour" EXACT OMO:0003005 [] -synonym: "GNET" EXACT ABBREVIATION [Orphanet:100075] +synonym: "GNET" EXACT ABBREVIATION [] synonym: "well-differentiated neuroendocrine tumors of the stomach" RELATED [ONCOTREE:SWDNET] synonym: "well-differentiated neuroendocrine tumours of the stomach" RELATED OMO:0003005 [] xref: MEDGEN:474032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -348310,7 +348374,7 @@ subset: gard_rare {source="GARD:19751", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:100076"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "duodenal neuroendocrine tumor" EXACT [NCIT:C135080] +synonym: "duodenal neuroendocrine tumor" EXACT [NCIT:C135080, Orphanet:100076] synonym: "duodenal neuroendocrine tumour" EXACT OMO:0003005 [] xref: GARD:19751 {source="MONDO:GARD"} xref: MEDGEN:1619951 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -348335,7 +348399,7 @@ subset: ordo_group_of_disorders {source="Orphanet:100077"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "jejunal neuroendocrine neoplasm" EXACT [Orphanet:100077] -synonym: "jejunal neuroendocrine tumor" RELATED [Orphanet:100077] +synonym: "jejunal neuroendocrine tumor" RELATED [] synonym: "jejunal neuroendocrine tumour" RELATED OMO:0003005 [] xref: GARD:19752 {source="MONDO:GARD"} xref: MEDGEN:1619460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -348362,7 +348426,7 @@ subset: orphanet_rare {source="Orphanet:100078"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ileal neuroendocrine neoplasm" EXACT [Orphanet:100078] -synonym: "ileal neuroendocrine tumor" RELATED [Orphanet:100078] +synonym: "ileal neuroendocrine tumor" RELATED [] synonym: "ileal neuroendocrine tumour" RELATED OMO:0003005 [] xref: GARD:19753 {source="MONDO:GARD"} xref: MEDGEN:1611292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -348389,16 +348453,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "appendiceal NEN" EXACT [Orphanet:100079] synonym: "appendiceal neuroendocrine neoplasm" EXACT [Orphanet:100079] -synonym: "appendiceal neuroendocrine tumor" EXACT [Orphanet:100079] +synonym: "appendiceal neuroendocrine tumor" EXACT [] synonym: "appendiceal neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "appendix NET" EXACT [NCIT:C96422] synonym: "appendix neuroendocrine tumor" EXACT [NCIT:C96422] synonym: "appendix neuroendocrine tumour" EXACT OMO:0003005 [] -synonym: "appendix well differentiated endocrine tumor" EXACT [NCIT:C96422] -synonym: "appendix well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C96422] +synonym: "appendix well differentiated endocrine tumor" EXACT [] +synonym: "appendix well differentiated endocrine tumor/carcinoma" EXACT [] synonym: "appendix well differentiated endocrine tumour" EXACT OMO:0003005 [] synonym: "NEN of appendix" EXACT [Orphanet:100079] -synonym: "neuroendocrine neoplasm of appendix" RELATED [Orphanet:100079] +synonym: "neuroendocrine neoplasm of appendix" RELATED [] synonym: "well-differentiated neuroendocrine tumor of the appendix" RELATED [ONCOTREE:AWDNET] synonym: "well-differentiated neuroendocrine tumour of the appendix" RELATED OMO:0003005 [] xref: GARD:19754 {source="MONDO:GARD"} @@ -348427,11 +348491,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "carcinoid tumor of colon" BROAD [https://orcid.org/0000-0002-6601-2165] synonym: "carcinoid tumour of colon" BROAD OMO:0003005 [] -synonym: "colon neuroendocrine tumor" BROAD [NCIT:C135212] +synonym: "colon neuroendocrine tumor" BROAD [] synonym: "colon neuroendocrine tumour" BROAD OMO:0003005 [] -synonym: "colonic NET" EXACT [Orphanet:100080] -synonym: "NET of the colon" EXACT [Orphanet:100080] -synonym: "neuroendocrine neoplasm of the colon" BROAD [Orphanet:100080] +synonym: "colonic NET" EXACT [] +synonym: "NET of the colon" EXACT [] +synonym: "neuroendocrine neoplasm of the colon" BROAD [] xref: MEDGEN:1617490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C135212 {source="MONDO:equivalentTo"} xref: NCIT:CN197360 {source="https://orcid.org/0000-0002-6601-2165"} @@ -348448,7 +348512,7 @@ name: rectal neuroendocrine tumor def: "A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum." [NCIT:C135213] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "neuroendocrine tumor of rectum, well differentiated, low or intermediate grade" EXACT [MONDO:0015068, NCIT:C135213] +synonym: "neuroendocrine tumor of rectum, well differentiated, low or intermediate grade" EXACT [MONDO:0015068] synonym: "rectal well differentiated neuroendocrine neoplasm" EXACT [https://orcid.org/0000-0002-0587-4693, NCIT:C135213] synonym: "rectal well-differentiated neuroendocrine neoplasm" EXACT [https://orcid.org/0000-0002-0587-4693, NCIT:C135213] xref: NCIT:C135213 {source="MONDO:equivalentTo"} @@ -348473,16 +348537,16 @@ synonym: "anal canal NET" EXACT [NCIT:C96540] synonym: "anal canal neuroendocrine neoplasm" BROAD [MONDO:patterns/location] synonym: "anal canal neuroendocrine tumor" EXACT [NCIT:C96540] synonym: "anal canal neuroendocrine tumour" EXACT OMO:0003005 [] -synonym: "anal canal well differentiated tumor" EXACT [NCIT:C96540] -synonym: "anal canal well differentiated tumor/carcinoma" EXACT [NCIT:C96540] +synonym: "anal canal well differentiated tumor" EXACT [] +synonym: "anal canal well differentiated tumor/carcinoma" EXACT [] synonym: "anal canal well differentiated tumour" EXACT OMO:0003005 [] synonym: "anal NET" EXACT [NCIT:C96540] synonym: "anal Neuroendocrine tumor" EXACT [NCIT:C96540] synonym: "anal Neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "NET of anal canal" EXACT [Orphanet:100082] -synonym: "NET of the anal canal" EXACT [Orphanet:100082] -synonym: "neuroendocrine neoplasm of the anal canal" EXACT [Orphanet:100082] -synonym: "neuroendocrine tumor of anal canal" RELATED [Orphanet:100082] +synonym: "NET of the anal canal" EXACT [] +synonym: "neuroendocrine neoplasm of the anal canal" EXACT [] +synonym: "neuroendocrine tumor of anal canal" RELATED [] synonym: "neuroendocrine tumour of anal canal" RELATED OMO:0003005 [] xref: GARD:19757 {source="MONDO:GARD"} xref: icd11.foundation:1927831331 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:100082"} @@ -348509,7 +348573,7 @@ subset: orphanet_rare {source="Orphanet:100083"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "laryngeal neuroendocrine neoplasm" EXACT [NCIT:C6023] -synonym: "laryngeal neuroendocrine tumor" RELATED [DOID:5457] +synonym: "laryngeal neuroendocrine tumor" RELATED [] synonym: "laryngeal neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "larynx NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "larynx neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C6023] @@ -348518,8 +348582,8 @@ synonym: "larynx neuroendocrine tumor, well differentiated, low or intermediate synonym: "larynx neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "neuroendocrine neoplasm of larynx" EXACT [MONDO:patterns/neuroendocrine_neoplasm, NCIT:C6023] synonym: "neuroendocrine neoplasm of the larynx" EXACT [NCIT:C6023] -synonym: "neuroendocrine tumor of larynx" EXACT [DOID:5457, NCIT:C6023] -synonym: "neuroendocrine tumour of larynx" EXACT OMO:0003005 [] +synonym: "neuroendocrine tumor of larynx" EXACT [DOID:5457] +synonym: "neuroendocrine tumour of larynx" EXACT OMO:0003005 [DOID:5457] xref: DOID:5457 {source="MONDO:equivalentTo"} xref: GARD:19758 {source="MONDO:GARD"} xref: icd11.foundation:1502591214 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:100083"} @@ -348546,7 +348610,7 @@ subset: orphanet_rare {source="Orphanet:100084"} subset: rare synonym: "middle ear NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "middle ear neuroendocrine neoplasm" EXACT [MONDO:patterns/location] -synonym: "middle ear neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm] +synonym: "middle ear neuroendocrine tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm, Orphanet:100084] synonym: "middle ear neuroendocrine tumor, well differentiated, low or intermediate grade" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of middle ear" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine tumor of middle ear" EXACT [] @@ -348577,7 +348641,7 @@ synonym: "liver neuroendocrine cancer" EXACT [NCIT:C96787] synonym: "liver neuroendocrine carcinoma" EXACT [MONDO:patterns/location, NCIT:C96787] synonym: "neuroendocrine carcinoma of liver" EXACT [MONDO:design_pattern] synonym: "PHNEC" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] -synonym: "primary hepatic neuroendocrine carcinoma" EXACT [NCIT:C96787] +synonym: "primary hepatic neuroendocrine carcinoma" EXACT [NCIT:C96787, Orphanet:100085] synonym: "primary liver neuroendocrine carcinoma" EXACT [NCIT:C96787] xref: GARD:19760 {source="MONDO:GARD"} xref: ICD10CM:C22.7 {source="Orphanet:100085/ntbt", source="Orphanet:100085"} @@ -348602,10 +348666,10 @@ subset: orphanet_rare {source="Orphanet:100086"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "gallbladder NET" EXACT [NCIT:C96918] -synonym: "gallbladder neuroendocrine tumor" EXACT [NCIT:C96918] +synonym: "gallbladder neuroendocrine tumor" EXACT [NCIT:C96918, Orphanet:100086] synonym: "gallbladder neuroendocrine tumour" EXACT OMO:0003005 [] -synonym: "gallbladder well differentiated endocrine tumor" EXACT [NCIT:C96918] -synonym: "gallbladder well differentiated endocrine tumor/carcinoma" EXACT [NCIT:C96918] +synonym: "gallbladder well differentiated endocrine tumor" EXACT [] +synonym: "gallbladder well differentiated endocrine tumor/carcinoma" EXACT [] synonym: "gallbladder well differentiated endocrine tumour" EXACT OMO:0003005 [] xref: GARD:19761 {source="MONDO:GARD"} xref: ICD10CM:C23 {source="Orphanet:100086/ntbt", source="Orphanet:100086"} @@ -348675,18 +348739,18 @@ subset: gard_rare {source="GARD:19763", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:100088"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of the thyroid" BROAD [NCIT:C4815] -synonym: "cancer of thyroid" BROAD [NCIT:C4815] +synonym: "cancer of the thyroid" BROAD [] +synonym: "cancer of thyroid" BROAD [] synonym: "carcinoma of the thyroid" EXACT [NCIT:C4815] synonym: "carcinoma of the thyroid gland" EXACT [NCIT:C4815] synonym: "carcinoma of thyroid" EXACT [NCIT:C4815] synonym: "carcinoma of thyroid gland" EXACT [MONDO:patterns/carcinoma, NCIT:C4815] -synonym: "head and neck cancer, thyroid" BROAD [DOID:3963, NCIT:C4815] -synonym: "thyroid cancer" BROAD [NCIT:C4815] -synonym: "thyroid cancer, NOS" BROAD EXCLUDE [NCIT:C4815] -synonym: "thyroid carcinoma" EXACT [MONDO:ambiguous, NCIT:C4815] -synonym: "thyroid gland cancer" BROAD [NCIT:C4815] -synonym: "thyroid gland carcinoma" EXACT [MONDO:0006461, MONDO:patterns/location, NCIT:C4815] +synonym: "head and neck cancer, thyroid" BROAD [] +synonym: "thyroid cancer" BROAD [] +synonym: "thyroid cancer, NOS" BROAD EXCLUDE [] +synonym: "thyroid carcinoma" EXACT [DOID:3963, MONDO:ambiguous, NCIT:C4815] +synonym: "thyroid gland cancer" BROAD [] +synonym: "thyroid gland carcinoma" EXACT [DOID:3963, MONDO:0006461, MONDO:patterns/location, NCIT:C4815] xref: DOID:3963 {source="MONDO:equivalentTo"} xref: EFO:0002892 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19763 {source="MONDO:GARD"} @@ -348888,11 +348952,11 @@ def: "OBSOLETE. Autosomal dominant form of pure hereditary spastic paraplegia." subset: ordo_group_of_disorders {source="Orphanet:100980"} subset: otar {source="MONDO:OTAR"} synonym: "autosomal dominant pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant pure HSP" EXACT [Orphanet:100980] -synonym: "autosomal dominant pure SPG" EXACT [Orphanet:100980] -synonym: "autosomal dominant uncomplicated HSP" EXACT [Orphanet:100980] -synonym: "autosomal dominant uncomplicated spastic paraplegia" EXACT [Orphanet:100980] -synonym: "autosomal dominant uncomplicated SPG" EXACT [Orphanet:100980] +synonym: "autosomal dominant pure HSP" EXACT [] +synonym: "autosomal dominant pure SPG" EXACT [] +synonym: "autosomal dominant uncomplicated HSP" EXACT [] +synonym: "autosomal dominant uncomplicated spastic paraplegia" EXACT [] +synonym: "autosomal dominant uncomplicated SPG" EXACT [] synonym: "pure hereditary spastic paraplegia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: ICD10CM:G11.4 {source="Orphanet:100980/attributed", source="Orphanet:100980/ntbt", source="Orphanet:100980"} xref: Orphanet:100980 {source="MONDO:obsoleteEquivalent"} @@ -348909,11 +348973,11 @@ def: "OBSOLETE. Autosomal recessive form of complex hereditary spastic paraplegi subset: ordo_group_of_disorders {source="Orphanet:100981"} subset: otar {source="MONDO:OTAR"} synonym: "autosomal recessive complex hereditary spastic paraplegia" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive complex HSP" EXACT [Orphanet:100981] -synonym: "autosomal recessive complex SPG" EXACT [Orphanet:100981] -synonym: "autosomal recessive complicated HSP" EXACT [Orphanet:100981] -synonym: "autosomal recessive complicated spastic paraplegia" EXACT [Orphanet:100981] -synonym: "autosomal recessive complicated SPG" EXACT [Orphanet:100981] +synonym: "autosomal recessive complex HSP" EXACT [] +synonym: "autosomal recessive complex SPG" EXACT [] +synonym: "autosomal recessive complicated HSP" EXACT [] +synonym: "autosomal recessive complicated spastic paraplegia" EXACT [] +synonym: "autosomal recessive complicated SPG" EXACT [] synonym: "complex hereditary spastic paraplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: ICD10CM:G11.4 {source="Orphanet:100981", source="Orphanet:100981/attributed", source="Orphanet:100981/ntbt"} xref: Orphanet:100981 {source="MONDO:obsoleteEquivalent"} @@ -348930,11 +348994,11 @@ name: obsolete autosomal recessive pure spastic paraplegia def: "OBSOLETE. Autosomal recessive form of pure hereditary spastic paraplegia." [MONDO:patterns/autosomal_recessive] subset: ordo_group_of_disorders {source="Orphanet:100982"} synonym: "autosomal recessive pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern] -synonym: "autosomal recessive pure HSP" EXACT [Orphanet:100982] -synonym: "autosomal recessive pure SPG" EXACT [Orphanet:100982] -synonym: "autosomal recessive uncomplicated HSP" EXACT [Orphanet:100982] -synonym: "autosomal recessive uncomplicated spastic paraplegia" EXACT [Orphanet:100982] -synonym: "autosomal recessive uncomplicated SPG" EXACT [Orphanet:100982] +synonym: "autosomal recessive pure HSP" EXACT [] +synonym: "autosomal recessive pure SPG" EXACT [] +synonym: "autosomal recessive uncomplicated HSP" EXACT [] +synonym: "autosomal recessive uncomplicated spastic paraplegia" EXACT [] +synonym: "autosomal recessive uncomplicated SPG" EXACT [] synonym: "pure hereditary spastic paraplegia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: ICD10CM:G11.4 {source="Orphanet:100982/attributed", source="Orphanet:100982/ntbt", source="Orphanet:100982"} xref: Orphanet:100982 {source="MONDO:obsoleteEquivalent"} @@ -348956,10 +349020,10 @@ synonym: "autosomal dominant complex spastic paraplegia caused by mutation in AL synonym: "autosomal dominant spastic paraparesis" RELATED [GARD:0009583] synonym: "bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy" RELATED [GARD:0009583] synonym: "cataracts, motor neuronopathy, short stature and skeletal abnormalities" RELATED [GARD:0009583] -synonym: "cataracts-motor neuropathy-short stature-skeletal anomalies syndrome" EXACT [Orphanet:100990] -synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" EXACT [Orphanet:100990] +synonym: "cataracts-motor neuropathy-short stature-skeletal anomalies syndrome" EXACT [] +synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" EXACT [] synonym: "spastic paraplegia 9" RELATED [GARD:0009583] -synonym: "SPG9" EXACT ABBREVIATION [Orphanet:100990] +synonym: "SPG9" EXACT ABBREVIATION [] xref: ICD10CM:G11.4 {source="Orphanet:100990", source="Orphanet:100990/attributed", source="Orphanet:100990/ntbt"} xref: icd11.foundation:1867328407 {source="MONDO:equivalentTo"} xref: MEDGEN:322007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -349208,7 +349272,7 @@ def: "OBSOLETE. A form of eye disease that is both rare and inborn." [MONDO:patt subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101435"} synonym: "rare genetic eye disease" EXACT [] -synonym: "rare genetic ophthalmologic disease" EXACT [Orphanet:101435] +synonym: "rare genetic ophthalmologic disease" EXACT [] xref: Orphanet:101435 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349222,7 +349286,7 @@ subset: ordo_disorder {source="Orphanet:101685"} synonym: "rare intellectual disability without developmental anomaly" RELATED [GARD:0012633] synonym: "rare non-syndromic intellectual deficiency" RELATED [GARD:0012633] synonym: "rare non-syndromic intellectual disability" EXACT [MONDO:patterns/rare] -synonym: "rare NSID" EXACT [Orphanet:101685] +synonym: "rare NSID" EXACT [] xref: Orphanet:101685 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349401,7 +349465,7 @@ name: obsolete rare inherited dyslipidemia def: "OBSOLETE. Rare lipid metabolism disorder." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:101953"} -synonym: "rare dyslipidemia" RELATED [Orphanet:101953] +synonym: "rare dyslipidemia" RELATED [] synonym: "rare lipid metabolism disorder" EXACT [] xref: ICD10CM:E78.0 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} xref: ICD10CM:E78.1 {source="Orphanet:101953", source="Orphanet:101953/specific", source="Orphanet:101953/btnt"} @@ -349503,19 +349567,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Addison disease" EXACT [DOID:13774, NCIT:C26689, OMIM:240200] synonym: "Addison disease, chronic adrenal insufficiency" EXACT [DOID:13774] -synonym: "Addison's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C26689] -synonym: "adrenal aplasia" RELATED [OMIM:240200] +synonym: "Addison's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:13774, MONDO:LexicalVariant, NCIT:C26689] +synonym: "adrenal aplasia" RELATED [] synonym: "adrenal gland hypofunction" RELATED [GARD:0005740] -synonym: "adrenal hypoplasia" RELATED [OMIM:240200] -synonym: "autoimmune Addison disease" EXACT [Orphanet:85138] -synonym: "autoimmune adrenalitis" EXACT [Orphanet:85138] -synonym: "autoimmune primary adrenal insufficiency" NARROW [NCIT:C113814] +synonym: "adrenal hypoplasia" RELATED [] +synonym: "autoimmune Addison disease" EXACT [] +synonym: "autoimmune adrenalitis" EXACT [] +synonym: "autoimmune primary adrenal insufficiency" NARROW [] synonym: "chronic adrenocorticoid insufficiency" EXACT [Orphanet:101959] -synonym: "classic Addison's disease" EXACT [Orphanet:85138] +synonym: "classic Addison's disease" EXACT [] synonym: "CPAI" EXACT ABBREVIATION [Orphanet:101959] synonym: "hypoadrenocorticism familial" RELATED [GARD:0005740] synonym: "hypoadrenocorticism, familial" EXACT [DOID:13774, OMIM:240200] -synonym: "primary Addison's disease" EXACT [Orphanet:85138] +synonym: "primary Addison's disease" EXACT [] synonym: "primary adrenal insufficiency, chronic" EXACT [MONDO:patterns/chronic] synonym: "primary adrenocortical insufficiency" EXACT [DOID:13774] synonym: "primary hypoadrenalism" EXACT [DOID:13774, NCIT:C26689] @@ -349571,11 +349635,11 @@ subset: ordo_group_of_disorders {source="Orphanet:101972"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CID" EXACT ABBREVIATION [PMID:31953710] -synonym: "combined immunodeficiency" EXACT [DOID:628] -synonym: "combined T and B cell immunodeficiency" RELATED [Orphanet:101972] -synonym: "combined T cell and B cell immunodeficiency" RELATED [DOID:628] +synonym: "combined immunodeficiency" EXACT [DOID:0111962] +synonym: "combined T and B cell immunodeficiency" RELATED [] +synonym: "combined T cell and B cell immunodeficiency" RELATED [] synonym: "congenital combined immunodeficiency" EXACT [DOID:628, NCIT:C27871] -synonym: "X-linked combined immunodeficiency" NARROW [DOID:628] +synonym: "X-linked combined immunodeficiency" NARROW [] xref: DOID:0111962 {source="MONDO:equivalentTo"} xref: DOID:628 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:19806 {source="MONDO:GARD"} @@ -349645,12 +349709,12 @@ subset: gard_rare {source="GARD:19809", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:101987"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital neutropenia" EXACT [NCIT:C61242] -synonym: "genetic infantile agranulocytosis" EXACT [NCIT:C61242] -synonym: "infantile genetic agranulocytosis" EXACT [NCIT:C61242] -synonym: "Kostmann disease" NARROW [NCIT:C61242] -synonym: "Kostmann neutropenia" NARROW [NCIT:C61242] -synonym: "Kostmann syndrome" NARROW [NCIT:C61242] +synonym: "congenital neutropenia" EXACT [NCIT:C61242, Orphanet:101987] +synonym: "genetic infantile agranulocytosis" EXACT [] +synonym: "infantile genetic agranulocytosis" EXACT [] +synonym: "Kostmann disease" NARROW [] +synonym: "Kostmann neutropenia" NARROW [] +synonym: "Kostmann syndrome" NARROW [] xref: GARD:19809 {source="MONDO:GARD"} xref: ICD10CM:D70 {source="MONDO:relatedTo", source="Orphanet:101987", source="Orphanet:101987/attributed", source="Orphanet:101987/ntbt"} xref: icd11.foundation:87096615 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:101987"} @@ -349665,7 +349729,7 @@ is_a: MONDO:0009332 {source="NCIT:C61242"} ! congenital hematological disorder id: MONDO:0015135 name: obsolete primary immunodeficiency due to a genetic defect in innate immunity subset: ordo_group_of_disorders {source="Orphanet:101988"} -synonym: "primary immunodeficiency due to a defect in innate immunity" RELATED [Orphanet:101988] +synonym: "primary immunodeficiency due to a defect in innate immunity" RELATED [] xref: icd11.foundation:551037838 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:101988"} xref: Orphanet:101988 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -349679,7 +349743,7 @@ id: MONDO:0015136 name: obsolete immunodeficiency due to a genetic complement cascade protein anomaly comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: primary immunodeficiency disease' subset: ordo_group_of_disorders {source="Orphanet:101992"} -synonym: "immunodeficiency due to a complement cascade protein anomaly" RELATED [Orphanet:101992] +synonym: "immunodeficiency due to a complement cascade protein anomaly" RELATED [] xref: ICD10CM:D84.1 {source="Orphanet:101992", source="Orphanet:101992/e", source="Orphanet:101992/specific"} xref: icd11.foundation:1222145690 {source="Orphanet:101992", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839"} xref: Orphanet:101992 {source="MONDO:obsoleteEquivalent"} @@ -349712,7 +349776,7 @@ is_a: MONDO:0019751 {source="Orphanet:101995"} ! autoinflammatory syndrome id: MONDO:0015138 name: obsolete rare genetic primary immunodeficiency subset: disease_grouping -synonym: "primary immunodeficiency" RELATED [Orphanet:101997] +synonym: "primary immunodeficiency" RELATED [] xref: MedDRA:10064859 {source="Orphanet:101997", source="Orphanet:101997/e"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -349773,7 +349837,7 @@ synonym: "disease or disorder of medulla oblongata" EXACT [] synonym: "disorder of medulla oblongata" EXACT [MONDO:patterns/location_top] synonym: "medulla oblongata disease" EXACT [MONDO:design_pattern] synonym: "medulla oblongata disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "medullar disease" RELATED [Orphanet:102000] +synonym: "medullar disease" RELATED [] xref: Orphanet:102000 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -349836,7 +349900,7 @@ subset: rare synonym: "ILS" RELATED ABBREVIATION [GARD:0005049] synonym: "lissencephaly classic" RELATED [GARD:0005049] synonym: "lissencephaly sequence isolated" RELATED [GARD:0005049] -synonym: "lissencephaly type 1" EXACT [Orphanet:102009] +synonym: "lissencephaly type 1" EXACT [icd11.foundation:570001324, Orphanet:102009] xref: GARD:5049 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:102009/inclusion", source="Orphanet:102009", source="Orphanet:102009/ntbt"} xref: icd11.foundation:570001324 {source="MONDO:equivalentTo"} @@ -349943,9 +350007,9 @@ subset: gard_rare {source="GARD:19824", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:102014"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:patterns/autosomal_dominant] +synonym: "autosomal dominant limb-girdle muscular dystrophy" EXACT [DOID:0110273, MONDO:patterns/autosomal_dominant, Orphanet:102014] synonym: "limb-girdle muscular dystrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] -synonym: "muscular dystrophy, limb-girdle, autosomal dominant" EXACT CLINGEN_LABEL [OMIMPS:159000] +synonym: "muscular dystrophy, limb-girdle, autosomal dominant" EXACT CLINGEN_LABEL [OMIMPS:603511] xref: DOID:0110273 {source="MONDO:equivalentTo"} xref: GARD:19824 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:102014/attributed", source="Orphanet:102014/ntbt", source="Orphanet:102014", source="DOID:0110273"} @@ -349972,7 +350036,7 @@ subset: gard_rare {source="GARD:19825", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:102015"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive limb-girdle muscular dystrophy" EXACT CLINGEN_LABEL [] +synonym: "autosomal recessive limb-girdle muscular dystrophy" EXACT CLINGEN_LABEL [DOID:0110274, Orphanet:102015] synonym: "limb-girdle muscular dystrophy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "muscular dystrophy, limb-girdle, autosomal recessive" EXACT [OMIMPS:253600] xref: DOID:0110274 {source="MONDO:equivalentTo"} @@ -349997,7 +350061,7 @@ name: obsolete autosomal monosomy comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:102020"} -synonym: "autosomal deletion" EXACT [Orphanet:102020] +synonym: "autosomal deletion" EXACT [] xref: ICD10CM:Q93.0 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} xref: ICD10CM:Q93.1 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} xref: ICD10CM:Q93.2 {source="Orphanet:102020/specific", source="Orphanet:102020/btnt", source="Orphanet:102020"} @@ -350071,9 +350135,9 @@ subset: gard_rare {source="GARD:19832", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:102283"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MCA/MR" EXACT [Orphanet:102283] +synonym: "MCA/MR" EXACT ABBREVIATION [Orphanet:102283] synonym: "multiple congenital anomalies-intellectual disability with or without dysmorphism" EXACT [Orphanet:102283] -synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT CLINGEN_LABEL [] +synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT CLINGEN_LABEL [Orphanet:102283] xref: GARD:19832 {source="MONDO:GARD"} xref: MEDGEN:1826158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:102283 {source="MONDO:equivalentTo"} @@ -350089,8 +350153,8 @@ name: multiple congenital anomalies/dysmorphic syndrome-variable intellectual di subset: disease_grouping subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "MCA/variable MR" EXACT [Orphanet:102284] -synonym: "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome" EXACT [Orphanet:102284] +synonym: "MCA/variable MR" EXACT [] +synonym: "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome" EXACT [] xref: Orphanet:102284 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019042 {source="Orphanet:102284"} ! multiple congenital anomalies/dysmorphic syndrome relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -350201,24 +350265,24 @@ subset: ordo_malformation_syndrome {source="Orphanet:295000"} subset: orphanet_rare {source="Orphanet:295000"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Adam Complex" RELATED [OMIM:217100] -synonym: "Adam syndrome" EXACT [Orphanet:1034] +synonym: "Adam Complex" RELATED [] +synonym: "Adam syndrome" EXACT [] synonym: "amniotic band constriction" EXACT [NCIT:C84552] -synonym: "amniotic band sequence" RELATED [OMIM:217100] +synonym: "amniotic band sequence" RELATED [] synonym: "amniotic bands" EXACT [] synonym: "amniotic bands sequence" RELATED [GARD:0000429] -synonym: "amniotic deformity-adhesion-mutilation syndrome" EXACT [Orphanet:1034] -synonym: "amputation, congenital" RELATED [OMIM:217100] +synonym: "amniotic deformity-adhesion-mutilation syndrome" EXACT [] +synonym: "amputation, congenital" RELATED [] synonym: "congenital constricting bands" RELATED [GARD:0000429] synonym: "congenital ring constrictions" EXACT [Orphanet:295000] -synonym: "CONSTRICTING bands, congenital" RELATED [OMIM:217100] +synonym: "CONSTRICTING bands, congenital" RELATED [] synonym: "constriction band syndrome" EXACT [Orphanet:295000] synonym: "constriction rings syndrome" EXACT [MONDO:0009011] synonym: "deformity due to amniotic band" EXACT [NCIT:C84552] synonym: "familial amniotic bands" RELATED [GARD:0000429] -synonym: "Streeter anomaly" RELATED [OMIM:217100] +synonym: "Streeter anomaly" RELATED [] synonym: "Streeter dysplasia" EXACT [Orphanet:295000] -synonym: "terminal transverse defects of arm" RELATED [OMIM:217100] +synonym: "terminal transverse defects of arm" RELATED [] xref: GARD:429 {source="MONDO:GARD"} xref: ICD10CM:Q79.8 {source="Orphanet:295000/attributed", source="Orphanet:295000/ntbt", source="Orphanet:1034/attributed", source="Orphanet:1034/ntbt", source="Orphanet:1034", source="Orphanet:295000"} xref: icd11.foundation:1033549095 {source="Orphanet:295000", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -350251,16 +350315,16 @@ subset: ordo_group_of_disorders {source="Orphanet:1037"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AMC" EXACT ABBREVIATION [Orphanet:1037] -synonym: "amyoplasia congenita" RELATED [Orphanet:1037] -synonym: "arthrogryposis multiplex congenita" EXACT CLINGEN_LABEL [] -synonym: "Arthromyodysplasia congenita" EXACT [Orphanet:1037] -synonym: "congenital amyoplasia" RELATED [Orphanet:1037] -synonym: "congenital arthromyodysplasia" EXACT [Orphanet:1037] +synonym: "amyoplasia congenita" RELATED [] +synonym: "arthrogryposis multiplex congenita" EXACT CLINGEN_LABEL [DOID:0080954, icd11.foundation:1930990330, OMIMPS:617468, Orphanet:1037] +synonym: "Arthromyodysplasia congenita" EXACT [] +synonym: "congenital amyoplasia" RELATED [] +synonym: "congenital arthromyodysplasia" EXACT [] synonym: "fibrous ankylosis of multiple joints" RELATED [GARD:0000777] synonym: "Guerin-Stern syndrome" RELATED [GARD:0000777] synonym: "Guérin-Stern syndrome" RELATED [GARD:0000777] synonym: "multiple congenital arthrogryposis" EXACT [Orphanet:1037] -synonym: "myodysplasia" EXACT [Orphanet:1037] +synonym: "myodysplasia" EXACT [] synonym: "myodystrophia fetalis deformans" RELATED [GARD:0000777] synonym: "Otto syndrome" RELATED [GARD:0000777] synonym: "rocher-Sheldon syndrome" RELATED [GARD:0000777] @@ -350290,9 +350354,9 @@ subset: ordo_disorder {source="Orphanet:103907"} subset: orphanet_rare {source="Orphanet:103907"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chronic diarrhea due to glucoamylase deficiency" EXACT [] +synonym: "chronic diarrhea due to glucoamylase deficiency" EXACT [Orphanet:103907] synonym: "maltase glucoamylase deficiency" RELATED [] -synonym: "maltase-glucoamylase deficiency" EXACT [Orphanet:103907] +synonym: "maltase-glucoamylase deficiency" EXACT [icd11.foundation:2084206046, Orphanet:103907] xref: GARD:19838 {source="MONDO:GARD"} xref: ICD10CM:E74.3 {source="Orphanet:103907/attributed", source="Orphanet:103907/ntbt", source="Orphanet:103907"} xref: icd11.foundation:2084206046 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:103907"} @@ -350527,7 +350591,7 @@ subset: ordo_group_of_disorders {source="Orphanet:104008"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acquired short bowel syndrome" EXACT [DOID:10605] -synonym: "short gut syndrome" EXACT [DOID:10605] +synonym: "short gut syndrome" EXACT [DOID:10605, icd11.foundation:780637678] xref: DOID:10605 {source="MONDO:equivalentTo"} xref: GARD:1502 {source="MONDO:GARD"} xref: icd11.foundation:780637678 {source="Orphanet:104008", source="MONDO:equivalentTo"} @@ -350588,8 +350652,8 @@ def: "OBSOLETE. Rare intestinal neoplasm." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:104011"} synonym: "rare intestinal neoplasm" EXACT [MONDO:patterns/rare] -synonym: "rare intestinal tumor" EXACT [Orphanet:104011] -synonym: "rare tumor of bowel" EXACT [Orphanet:104011] +synonym: "rare intestinal tumor" EXACT [] +synonym: "rare tumor of bowel" EXACT [] xref: Orphanet:104011 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -350684,7 +350748,7 @@ synonym: "foetal oedema" RELATED OMO:0003005 [] synonym: "generalised foetal oedema" EXACT OMO:0003005 [] synonym: "generalized fetal edema" EXACT [Orphanet:1041] synonym: "HF" EXACT ABBREVIATION [Orphanet:1041] -synonym: "hydrops fetalis" EXACT [MONDO:ambiguous] +synonym: "hydrops fetalis" EXACT [MONDO:ambiguous, NCIT:C84767, Orphanet:1041] synonym: "hydrops fetalis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "hydrops fetalis nonimmune" RELATED [GARD:0002783] synonym: "idiopathic hydrops fetalis" RELATED [GARD:0002783] @@ -350716,7 +350780,7 @@ subset: rare synonym: "anaemia sideroblastic" EXACT OMO:0003005 [] synonym: "anemia sideroblastic" EXACT [DOID:8955, MTH:NOCODE] synonym: "anemia, hypochromic with iron loading" EXACT [DOID:8955] -synonym: "sideroblastic anemia" EXACT [MONDO:0004688] +synonym: "sideroblastic anemia" EXACT [DOID:8955, MONDO:0004688, NCIT:C36078, Orphanet:1047] xref: DOID:8955 {source="MONDO:equivalentTo"} xref: GARD:18714 {source="MONDO:GARD"} xref: ICD10CM:D64.0 {source="Orphanet:1047/btnt", source="Orphanet:1047"} @@ -350750,7 +350814,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:105"} subset: orphanet_rare {source="Orphanet:105"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atresia of urethra" EXACT [MONDO:ambiguous] +synonym: "atresia of urethra" EXACT [MONDO:ambiguous, Orphanet:105] synonym: "atresia of urethra (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "urethral atresia" EXACT [Orphanet:105] xref: GARD:18678 {source="MONDO:GARD"} @@ -350778,7 +350842,7 @@ synonym: "ectasia or varix of the vein of Galen" RELATED [GARD:0005467] synonym: "Galen vein aneurysm" RELATED [GARD:0005467] synonym: "Galenic arteriovenous malformation" RELATED [GARD:0005467] synonym: "vein of Galen aneurysm malformation" RELATED [GARD:0005467] -synonym: "vein of Galen arteriovenous malformations" EXACT [Orphanet:1053] +synonym: "vein of Galen arteriovenous malformations" EXACT [icd11.foundation:1884295064, Orphanet:1053] synonym: "VGAM" RELATED ABBREVIATION [GARD:0005467] xref: GARD:5467 {source="MONDO:GARD"} xref: ICD10CM:Q28.2 {source="Orphanet:1053/ntbt", source="Orphanet:1053"} @@ -350916,7 +350980,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:1074"} subset: ordo_subtype_of_a_disorder {source="Orphanet:1074"} subset: rare -synonym: "ankyloblepharon filiforme adnatum-imperforate anus syndrome" RELATED [Orphanet:1074] +synonym: "ankyloblepharon filiforme adnatum-imperforate anus syndrome" RELATED [] synonym: "Aughton-Hufnagle syndrome" EXACT [Orphanet:1074] xref: GARD:697 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1074/attributed", source="Orphanet:1074/ntbt", source="Orphanet:1074"} @@ -351000,7 +351064,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:1088"} subset: rare synonym: "Rommen Mueller Sybert syndrome" RELATED [GARD:0004739] -synonym: "Rommen-Mueller-Sybert syndrome" EXACT [Orphanet:1088] +synonym: "Rommen-Mueller-Sybert syndrome" EXACT [] synonym: "short stature heart defect and craniofacial anomalies" RELATED [GARD:0004739] xref: ICD10CM:Q87.1 {source="Orphanet:1088", source="Orphanet:1088/attributed", source="Orphanet:1088/ntbt"} xref: MEDGEN:419321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -351252,7 +351316,7 @@ subset: gard_rare {source="GARD:19870", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:109007"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis syndrome" EXACT CLINGEN_LABEL [] +synonym: "arthrogryposis syndrome" EXACT CLINGEN_LABEL [Orphanet:109007] xref: GARD:19870 {source="MONDO:GARD"} xref: ICD10CM:Q68.8 {source="Orphanet:109007/attributed", source="Orphanet:109007/ntbt", source="Orphanet:109007"} xref: icd11.foundation:1692487835 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:109007"} @@ -351301,14 +351365,14 @@ synonym: "49, XXXXX syndrome" EXACT [NCIT:C89802] synonym: "49,XXXXX syndrome" EXACT [Orphanet:11] synonym: "chromosome X pentasomy" RELATED [GARD:0005678] synonym: "chromosome XXXXX syndrome" RELATED [GARD:0005678] -synonym: "Penta X Syndrome" EXACT [NORD:1565] -synonym: "penta X syndrome" EXACT [NCIT:C89802] +synonym: "Penta X Syndrome" EXACT [icd11.foundation:2087864894, NCIT:C89802, NORD:1565] +synonym: "penta X syndrome" EXACT [icd11.foundation:2087864894, NCIT:C89802] synonym: "penta-X" EXACT [Orphanet:11] synonym: "penta-X syndrome" RELATED [GARD:0005678] -synonym: "Pentasomy type X" EXACT [MONDORULE:1, Orphanet:11] +synonym: "Pentasomy type X" EXACT [MONDORULE:1] synonym: "Pentasomy X syndrome" RELATED [GARD:0005678] synonym: "poly-X" EXACT [Orphanet:11] -synonym: "XXXXX syndrome" EXACT [NCIT:C89802] +synonym: "XXXXX syndrome" EXACT [icd11.foundation:2087864894, NCIT:C89802] xref: GARD:5678 {source="MONDO:GARD"} xref: ICD10CM:Q97.1 {source="Orphanet:11/attributed", source="Orphanet:11/ntbt", source="Orphanet:11"} xref: icd11.foundation:2087864894 {source="MONDO:equivalentTo"} @@ -351333,11 +351397,11 @@ subset: ordo_disorder {source="Orphanet:110"} subset: orphanet_rare {source="Orphanet:110"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bardet-Biedl syndrome" EXACT CLINGEN_LABEL [] -synonym: "BBS" EXACT ABBREVIATION [Orphanet:110] -synonym: "Laurence-Moon syndrome" RELATED EXCLUDE [NCIT:C118632] -synonym: "Laurence-Moon-Bardet-Biedl syndrome" RELATED EXCLUDE [NCIT:C118632] -synonym: "Laurence-Moon-Biedl syndrome" RELATED EXCLUDE [NCIT:C118632] +synonym: "Bardet-Biedl syndrome" EXACT CLINGEN_LABEL [DOID:1935, icd11.foundation:255526264, NCIT:C118632, OMIMPS:209900, Orphanet:110] +synonym: "BBS" EXACT ABBREVIATION [NCIT:C118632, Orphanet:110] +synonym: "Laurence-Moon syndrome" RELATED EXCLUDE [] +synonym: "Laurence-Moon-Bardet-Biedl syndrome" RELATED EXCLUDE [] +synonym: "Laurence-Moon-Biedl syndrome" RELATED EXCLUDE [] xref: DOID:1935 {source="MONDO:equivalentTo"} xref: GARD:6866 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:110/inclusion", source="Orphanet:110/ntbt", source="Orphanet:110"} @@ -351403,8 +351467,8 @@ subset: orphanet_rare {source="Orphanet:112"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aldosteronism with hyperplasia of the adrenal cortex" EXACT [DOID:445] -synonym: "Bartter disease" EXACT [MONDO:0003006] -synonym: "Bartter's syndrome" EXACT [DOID:445, GARD:0005893, ICD9CM:255.13] +synonym: "Bartter disease" EXACT [DOID:445, MONDO:0003006] +synonym: "Bartter's syndrome" EXACT [DOID:445, GARD:0005893, ICD9CM:255.13, NCIT:C34412] synonym: "hypokalemic alkalosis" EXACT [NCIT:C34412] synonym: "hypokalemic alkalosis with hypercalciuria" RELATED [GARD:0005893] synonym: "Potassium wasting" RELATED [GARD:0005893] @@ -351561,10 +351625,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:1134"} subset: orphanet_rare {source="Orphanet:1134"} subset: rare synonym: "congenital absence of the nose" RELATED [GARD:0000364] -synonym: "isolated arrhinia" RELATED [Orphanet:1134] +synonym: "isolated arrhinia" RELATED [] synonym: "isolated nose agenesis" EXACT [Orphanet:1134] synonym: "Nose agenesia" RELATED [GARD:0000364] -synonym: "Nose agenesis" EXACT [Orphanet:1134] +synonym: "Nose agenesis" EXACT [] xref: GARD:364 {source="MONDO:GARD"} xref: ICD10CM:Q30.1 {source="Orphanet:1134", source="Orphanet:1134/ntbt"} xref: icd11.foundation:409489963 {source="Orphanet:1134", source="MONDO:equivalentTo"} @@ -351633,9 +351697,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AMCD1" RELATED ABBREVIATION [GARD:0000787] synonym: "arthrogryposis multiplex congenita distal type 1" EXACT [GARD:0000787] -synonym: "DA1" EXACT ABBREVIATION [Orphanet:1146] -synonym: "digitotalar dysmorphism" EXACT [GARD:0000787] -synonym: "distal arthrogryposis type 1" EXACT [Orphanet:1146] +synonym: "DA1" EXACT ABBREVIATION [DOID:0111596, Orphanet:1146] +synonym: "digitotalar dysmorphism" EXACT [DOID:0111596, GARD:0000787, icd11.foundation:1679749810, Orphanet:1146] +synonym: "distal arthrogryposis type 1" EXACT [DOID:0111596, icd11.foundation:1679749810, Orphanet:1146] synonym: "distal arthrogryposis type 1A (sub-type)" NARROW [GARD:0000787] synonym: "distal arthrogryposis type 1B (sub-type)" NARROW [GARD:0000787] xref: DOID:0111596 {source="MONDO:equivalentTo"} @@ -351688,9 +351752,9 @@ subset: ordo_disorder {source="Orphanet:1164"} subset: orphanet_rare {source="Orphanet:1164"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ABPA" EXACT ABBREVIATION [Orphanet:1164] +synonym: "ABPA" EXACT ABBREVIATION [NCIT:C84547, Orphanet:1164] synonym: "allergic aspergillosis" EXACT [Orphanet:1164] -synonym: "allergic bronchopulmonary aspergillosis, familial" RELATED [OMIM:103920] +synonym: "allergic bronchopulmonary aspergillosis, familial" RELATED [] synonym: "allergic bronchopulmonary mycosis" RELATED [GARD:0000602] synonym: "aspergillosis, allergic bronchopulmonary" RELATED [GARD:0000602] synonym: "Hinson-Pepys disease" EXACT [Orphanet:1164] @@ -351730,7 +351794,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:1172"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arca" EXACT [Orphanet:1172] +synonym: "ARCA" EXACT ABBREVIATION [Orphanet:1172] +synonym: "arca" EXACT [] synonym: "cerebellar ataxia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: DOID:0050950 {source="MONDO:equivalentTo"} xref: GARD:18718 {source="MONDO:GARD"} @@ -351791,7 +351856,7 @@ synonym: "Kinsbourne syndrome" EXACT [Orphanet:1183] synonym: "oma syndrome" EXACT [Orphanet:1183] synonym: "OMS" EXACT ABBREVIATION [Orphanet:1183] synonym: "opsoclonus myoclonus syndrome" EXACT [NCIT:C4686] -synonym: "Opsoclonus-Myoclonus-Ataxia Syndrome" EXACT [NORD:1527] +synonym: "Opsoclonus-Myoclonus-Ataxia Syndrome" EXACT [NORD:1527, Orphanet:1183] synonym: "opsoclonus-myoclonus-ataxia syndrome" EXACT [Orphanet:1183] synonym: "paraneoplastic opsoclonus-myoclonus" EXACT [Orphanet:1183] synonym: "paraneoplastic opsoclonus-myoclonus-ataxia syndrome" EXACT [Orphanet:1183] @@ -351848,7 +351913,7 @@ subset: orphanet_rare {source="Orphanet:1205"} subset: rare synonym: "congenital atresia of mitral valve" EXACT [NCIT:C98992] synonym: "congenital mitral valve atresia" EXACT [NCIT:C98992] -synonym: "mitral atresia" EXACT [MONDO:ambiguous] +synonym: "mitral atresia" EXACT [icd11.foundation:6462604, MONDO:ambiguous, Orphanet:1205] synonym: "mitral valve atresia" EXACT [NCIT:C98992] xref: GARD:3685 {source="MONDO:GARD"} xref: HP:0011560 {source="MONDO:otherHierarchy"} @@ -351904,7 +351969,7 @@ subset: rare synonym: "BD syndrome" RELATED [GARD:0003482] synonym: "intellectual disability - athetosis - microphthalmia" RELATED [GARD:0003482] synonym: "intellectual disability-athetosis-microphthalmia syndrome" RELATED [GARD:0003482] -synonym: "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome" EXACT [GARD:0003482] +synonym: "severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome" EXACT [GARD:0003482, Orphanet:1236] xref: GARD:3482 {source="MONDO:GARD"} xref: MEDGEN:1682668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:1236 {source="MONDO:equivalentTo", source="GARD:0003482"} @@ -351924,8 +351989,8 @@ subset: ordo_disorder {source="Orphanet:124"} subset: orphanet_rare {source="Orphanet:124"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Aase syndrome" EXACT [Orphanet:124] -synonym: "Aase-Smith II syndrome" EXACT [Orphanet:124] +synonym: "Aase syndrome" EXACT [] +synonym: "Aase-Smith II syndrome" EXACT [] synonym: "anaemia congenital erythroid hypoplastic" RELATED OMO:0003005 [] synonym: "anaemia Diamond Blackfan type" RELATED OMO:0003005 [] synonym: "anemia congenital erythroid hypoplastic" RELATED [GARD:0006274] @@ -351936,19 +352001,19 @@ synonym: "BDS" RELATED ABBREVIATION [GARD:0006274] synonym: "Blackfan - Diamond syndrome" EXACT [DOID:1339] synonym: "Blackfan Diamond syndrome" RELATED [GARD:0006274] synonym: "Blackfan-Diamond anaemia" EXACT OMO:0003005 [] -synonym: "Blackfan-Diamond anemia" EXACT [NCIT:C61236] -synonym: "chronic constitutional pure red cell anaemia" EXACT OMO:0003005 [] -synonym: "chronic constitutional pure red cell anemia" EXACT [DOID:1339] +synonym: "Blackfan-Diamond anemia" EXACT [] +synonym: "chronic constitutional pure red cell anaemia" EXACT OMO:0003005 [DOID:1339] +synonym: "chronic constitutional pure red cell anemia" EXACT [] synonym: "congenital hypoplastic anaemia" EXACT OMO:0003005 [] -synonym: "congenital hypoplastic anemia" EXACT [NCIT:C61236] -synonym: "congenital hypoplastic anemia, Blackfan-Diamond type" EXACT [Orphanet:124] +synonym: "congenital hypoplastic anemia" EXACT [] +synonym: "congenital hypoplastic anemia, Blackfan-Diamond type" EXACT [] synonym: "congenital PRCA" EXACT [Orphanet:124] -synonym: "congenital pure red cell aplasia" EXACT [Orphanet:124] +synonym: "congenital pure red cell aplasia" EXACT [NCIT:C61236, Orphanet:124] synonym: "DBA" EXACT ABBREVIATION [] synonym: "Diamond Blackfan Anemia" EXACT [NORD:773] -synonym: "Diamond-Blackfan anemia" EXACT CLINGEN_LABEL [] -synonym: "erythrogenesis imperfecta" EXACT [NCIT:C61236] -synonym: "inherited erythroblastopenia" EXACT [NCIT:C61236] +synonym: "Diamond-Blackfan anemia" EXACT CLINGEN_LABEL [DOID:1339, NCIT:C61236, OMIMPS:105650, Orphanet:124] +synonym: "erythrogenesis imperfecta" EXACT [] +synonym: "inherited erythroblastopenia" EXACT [] synonym: "Red cell aplasia, pure hereditary" RELATED [GARD:0006274] xref: DOID:1339 {source="MONDO:equivalentTo"} xref: GARD:6274 {source="MONDO:GARD"} @@ -351988,9 +352053,9 @@ subset: orphanet_rare {source="Orphanet:1247"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bilharzia" EXACT [NCIT:C35000] -synonym: "bilharziasis" EXACT [Orphanet:1247] -synonym: "schistosomiasis" EXACT [NCIT:C35000] -synonym: "snail fever" EXACT [NCIT:C35000] +synonym: "bilharziasis" EXACT [icd11.foundation:1194562592, Orphanet:1247] +synonym: "schistosomiasis" EXACT [DOID:1395, icd11.foundation:1194562592, NCIT:C35000, Orphanet:1247] +synonym: "snail fever" EXACT [icd11.foundation:1194562592, NCIT:C35000] xref: DOID:1395 {source="MONDO:equivalentTo"} xref: EFO:1001475 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9687 {source="MONDO:GARD"} @@ -352024,7 +352089,7 @@ name: obsolete blepharophimosis-radioulnar synostosis syndrome subset: ordo_malformation_syndrome {source="Orphanet:1256"} synonym: "blepharophimosis radioulnar synostosis" RELATED [GARD:0003057] synonym: "Jorgenson Lenz syndrome" RELATED [GARD:0003057] -synonym: "Jorgenson-Lenz syndrome" EXACT [Orphanet:1256] +synonym: "Jorgenson-Lenz syndrome" EXACT [] synonym: "mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis" RELATED [GARD:0003057] synonym: "ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism" RELATED [GARD:0003057] xref: ICD10CM:Q87.2 {source="Orphanet:1256/attributed", source="Orphanet:1256/ntbt", source="Orphanet:1256"} @@ -352043,7 +352108,7 @@ name: blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - subset: obsoletion_candidate subset: ordo_malformation_syndrome {source="Orphanet:1258"} -synonym: "Rodini-Richieri Costa syndrome" EXACT [Orphanet:1258] +synonym: "Rodini-Richieri Costa syndrome" EXACT [] xref: Orphanet:1258 {source="MONDO:equivalentObsolete"} is_a: MONDO:0021147 {source="Orphanet:1258", source="Orphanet:1258/inferred"} ! disorder of development or morphogenesis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7700" xsd:anyURI @@ -352103,12 +352168,12 @@ subset: ordo_disorder {source="Orphanet:128"} subset: orphanet_rare {source="Orphanet:128"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bothriocephalosis" EXACT [Orphanet:128] +synonym: "Bothriocephalosis" EXACT [icd11.foundation:1679215344, Orphanet:128] synonym: "Diphyllobothrium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Diphyllobothrium disease or disorder" EXACT [] -synonym: "Diphyllobothrium infection" EXACT [DOID:10075] +synonym: "Diphyllobothrium infection" EXACT [DOID:10075, icd11.foundation:1679215344] synonym: "Diphyllobothrium infectious disease" EXACT [] -synonym: "fish tapeworm" EXACT [DOID:10075] +synonym: "fish tapeworm" EXACT [DOID:10075, ICD10CM:B70.0, icd11.foundation:1679215344] xref: DOID:10075 {source="EFO:0007238", source="MONDO:equivalentTo"} xref: EFO:0007238 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:942 {source="MONDO:GARD"} @@ -352191,16 +352256,16 @@ subset: ordo_disorder {source="Orphanet:130"} subset: orphanet_rare {source="Orphanet:130"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bangungut" EXACT [DOID:0050451, Orphanet:130] -synonym: "Brugada syndrome" EXACT CLINGEN_LABEL [NCIT:C142891] -synonym: "Brugada type idiopathic ventricular fibrillation" EXACT [DOID:0050451, Orphanet:130] -synonym: "dream disease" EXACT [DOID:0050451, Orphanet:130] +synonym: "Bangungut" EXACT [DOID:0050451] +synonym: "Brugada syndrome" EXACT CLINGEN_LABEL [DOID:0050451, icd11.foundation:1250136584, NCIT:C142891, OMIMPS:601144, Orphanet:130] +synonym: "Brugada type idiopathic ventricular fibrillation" EXACT [DOID:0050451, icd11.foundation:1250136584] +synonym: "dream disease" EXACT [DOID:0050451] synonym: "idiopathic ventricular fibrillation, Brugada type" EXACT [Orphanet:130] -synonym: "Pokkuri death syndrome" EXACT [DOID:0050451, Orphanet:130] +synonym: "Pokkuri death syndrome" EXACT [DOID:0050451] synonym: "right bundle branch block, ST segment elevation, and sudden death syndrome" EXACT [NCIT:C142891] synonym: "sudden unexpected nocturnal death syndrome" RELATED [GARD:0001030] -synonym: "sudden unexplained nocturnal death syndrome" EXACT [DOID:0050451, Orphanet:130] -synonym: "SUNDS" EXACT ABBREVIATION [DOID:0050451, Orphanet:130] +synonym: "sudden unexplained nocturnal death syndrome" EXACT [DOID:0050451, icd11.foundation:1250136584] +synonym: "SUNDS" EXACT ABBREVIATION [DOID:0050451] xref: DOID:0050451 {source="MONDO:equivalentTo"} xref: GARD:1030 {source="MONDO:GARD"} xref: ICD10CM:I49.8 {source="DOID:0050451", source="Orphanet:130/e", source="Orphanet:130/inclusion", source="Orphanet:130"} @@ -352231,17 +352296,17 @@ subset: ordo_disorder {source="Orphanet:1302"} subset: orphanet_rare {source="Orphanet:1302"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BOOP" RELATED EXCLUDE [DOID:0050157, GARD:0005961] -synonym: "bronchiolitis obliterans organising pneumonia" EXACT OMO:0003005 [] -synonym: "bronchiolitis obliterans organizing pneumonia" EXACT [DOID:0050157, Orphanet:1302] +synonym: "BOOP" RELATED EXCLUDE [GARD:0005961] +synonym: "bronchiolitis obliterans organising pneumonia" EXACT OMO:0003005 [DOID:0050157] +synonym: "bronchiolitis obliterans organizing pneumonia" EXACT [DOID:0050157, NCIT:C62586, Orphanet:1302] synonym: "constrictive bronchiolitis" RELATED [GARD:0005961] -synonym: "COP" EXACT ABBREVIATION [https://orcid.org/0000-0003-0113-912X, Orphanet:1302] -synonym: "cryptogenic organising pneumonitis" EXACT OMO:0003005 [] -synonym: "cryptogenic organizing pneumonitis" EXACT [DOID:0050157, https://orcid.org/0000-0003-0113-912X] +synonym: "COP" EXACT ABBREVIATION [https://orcid.org/0000-0003-0113-912X, NCIT:C62586, Orphanet:1302] +synonym: "cryptogenic organising pneumonitis" EXACT OMO:0003005 [DOID:0050157] +synonym: "cryptogenic organizing pneumonitis" EXACT [DOID:0050157, https://orcid.org/0000-0003-0113-912X, icd11.foundation:1937662238] synonym: "idiopathic BOOP" RELATED [GARD:0001620] synonym: "idiopathic bronchiolitis obliterans organising pneumonia" RELATED OMO:0003005 [] synonym: "idiopathic bronchiolitis obliterans organizing pneumonia" RELATED [GARD:0001620] -synonym: "idiopathic bronchiolitis obliterans with organising pneumonia" EXACT OMO:0003005 [] +synonym: "idiopathic bronchiolitis obliterans with organising pneumonia" EXACT OMO:0003005 [DOID:0050157] synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT [DOID:0050157] synonym: "organising pneumonia" EXACT OMO:0003005 [] synonym: "Organizing Pneumonia" EXACT [NORD:873] @@ -352281,14 +352346,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:1303"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BO" RELATED ABBREVIATION [NCIT:C62580] -synonym: "BOOP" EXACT ABBREVIATION [Orphanet:1303] -synonym: "bronchiolitis exudativa" RELATED [DOID:2799] +synonym: "BO" RELATED ABBREVIATION [] +synonym: "BOOP" EXACT ABBREVIATION [] +synonym: "bronchiolitis exudativa" RELATED [] synonym: "bronchiolitis fibrosa obliterans" EXACT [DOID:2799] synonym: "bronchiolitis obliterans" RELATED [MONDO:ambiguous] -synonym: "bronchiolitis obliterans with obstructive pulmonary disease" NARROW [Orphanet:1303] +synonym: "bronchiolitis obliterans with obstructive pulmonary disease" NARROW [] synonym: "constrictive bronchiolitis" EXACT [Orphanet:1303] -synonym: "obliterative bronchiolitis" RELATED [DOID:2799, Orphanet:1303] +synonym: "obliterative bronchiolitis" RELATED [] synonym: "organised pneumonia" EXACT OMO:0003005 [] synonym: "organising pneumonia" RELATED OMO:0003005 [] synonym: "organized pneumonia" EXACT [] @@ -352373,7 +352438,7 @@ subset: orphanet_rare {source="Orphanet:1309"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Cacchi Ricci disease" RELATED [GARD:0000232] -synonym: "Cacchi-Ricci disease" EXACT [Orphanet:1309] +synonym: "Cacchi-Ricci disease" EXACT [icd11.foundation:1723148250, Orphanet:1309] synonym: "Cacchi-Ricci syndrome" RELATED [GARD:0000232] synonym: "cystic dilatation of renal collecting tubes" RELATED [GARD:0000232] synonym: "MSK" EXACT ABBREVIATION [Orphanet:1309] @@ -352426,18 +352491,18 @@ subset: ordo_disorder {source="Orphanet:132"} subset: orphanet_rare {source="Orphanet:132"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Acholinesterasemia" RELATED [OMIM:617936] -synonym: "apnea, postanesthetic" RELATED [GARD:0007482, OMIM:617936] -synonym: "apnea, postanesthetic, susceptibility to, due to BCHE deficiency" EXACT [OMIM:617936, OMIM:genemap2] -synonym: "BCHED" RELATED ABBREVIATION [OMIM:617936] -synonym: "butyrylcholinesterase deficiency" EXACT CLINGEN_LABEL [OMIM:617936] -synonym: "butyrylcholinesterase deficiency, fluoride-resistant, Japanese type" RELATED [OMIM:617936] +synonym: "Acholinesterasemia" RELATED [] +synonym: "apnea, postanesthetic" RELATED [GARD:0007482] +synonym: "apnea, postanesthetic, susceptibility to, due to BCHE deficiency" EXACT [] +synonym: "BCHED" RELATED ABBREVIATION [] +synonym: "butyrylcholinesterase deficiency" EXACT CLINGEN_LABEL [icd11.foundation:581237559, OMIM:617936] +synonym: "butyrylcholinesterase deficiency, fluoride-resistant, Japanese type" RELATED [] synonym: "cholinesterase 2 deficiency" RELATED [GARD:0007482] -synonym: "hypocholinesterasemia, fluoride-resistant, Japanese type" RELATED [OMIM:617936] -synonym: "pseudocholinesterase deficiency" RELATED [GARD:0007482, OMIM:617936] +synonym: "hypocholinesterasemia, fluoride-resistant, Japanese type" RELATED [] +synonym: "pseudocholinesterase deficiency" RELATED [GARD:0007482] synonym: "pseudocholinesterase E1" RELATED [GARD:0007482] synonym: "succinylcholine sensitivity" RELATED [GARD:0007482] -synonym: "Suxamethonium sensitivity" RELATED [GARD:0007482, OMIM:617936] +synonym: "Suxamethonium sensitivity" RELATED [GARD:0007482] xref: GARD:7482 {source="MONDO:GARD"} xref: icd11.foundation:581237559 {source="MONDO:equivalentTo"} xref: ICD9:289.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -352511,7 +352576,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:1329"} subset: orphanet_rare {source="Orphanet:1329"} subset: rare synonym: "CAVC" EXACT ABBREVIATION [Orphanet:1329] -synonym: "common atrioventricular canal" RELATED EXCLUDE [Orphanet:1329] +synonym: "common atrioventricular canal" RELATED EXCLUDE [] synonym: "complete atrioventricular septal defect" EXACT [Orphanet:1329] xref: GARD:1454 {source="MONDO:GARD"} xref: ICD10CM:Q21.2 {source="Orphanet:1329/inclusion", source="Orphanet:1329", source="Orphanet:1329/ntbt"} @@ -352537,7 +352602,7 @@ subset: orphanet_rare {source="Orphanet:133"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute berylliosis" RELATED [GARD:0000867] -synonym: "berylliosis" EXACT [MONDO:0005666, Orphanet:133] +synonym: "berylliosis" EXACT [DOID:10322, icd11.foundation:212013370, MONDO:0005666, Orphanet:133] synonym: "beryllium disease" RELATED [GARD:0000867] synonym: "beryllium poisoning" EXACT [DOID:10322] synonym: "Beryllliosis" RELATED [GARD:0000867] @@ -352611,22 +352676,22 @@ synonym: "medullary carcinoma" EXACT [NCIT:C3879] synonym: "medullary carcinoma of the thyroid" EXACT [NCIT:C3879] synonym: "medullary carcinoma of the thyroid gland" EXACT [DOID:3973, NCIT:C3879] synonym: "medullary carcinoma of thyroid" EXACT [NCIT:C3879] -synonym: "medullary carcinoma of thyroid gland" EXACT [NCIT:C3879] +synonym: "medullary carcinoma of thyroid gland" EXACT [icd11.foundation:578519098, NCIT:C3879] synonym: "medullary thyroid cancer" EXACT [NCIT:C3879] synonym: "medullary thyroid cancer (MTC)" RELATED [GARD:0007004] -synonym: "medullary thyroid carcinoma" EXACT [DOID:3973, MONDO:ambiguous, NCIT:C3879] +synonym: "medullary thyroid carcinoma" EXACT [DOID:3973, MONDO:ambiguous, NCIT:C3879, Orphanet:1332] synonym: "medullary thyroid gland carcinoma" EXACT [NCIT:C3879] synonym: "MTC" EXACT ABBREVIATION [NCIT:C3879, Orphanet:1332] -synonym: "parafollicular cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C3879] +synonym: "parafollicular cell carcinoma" EXACT [DOID:3973, MONDO:patterns/location, NCIT:C3879] synonym: "THME" RELATED ABBREVIATION [ONCOTREE:THME] synonym: "thyroid cancer, medullary" RELATED [GARD:0007004] synonym: "thyroid carcinoma, medullary" RELATED [GARD:0007004] synonym: "thyroid gland medullary cancer" EXACT [NCIT:C3879] -synonym: "thyroid gland medullary carcinoma" EXACT [MONDO:0002823, NCIT:C3879] +synonym: "thyroid gland medullary carcinoma" EXACT [DOID:3973, MONDO:0002823, NCIT:C3879] synonym: "thyroid gland neuroendocrine carcinoma" EXACT [NCIT:C3879] synonym: "thyroid medullary carcinoma" EXACT [NCIT:C3879] synonym: "ultimobranchial thyroid tumor" EXACT [DOID:3973] -synonym: "ultimobranchial thyroid tumour" EXACT OMO:0003005 [] +synonym: "ultimobranchial thyroid tumour" EXACT OMO:0003005 [DOID:3973] xref: DOID:3973 {source="MONDO:equivalentTo"} xref: GARD:7004 {source="MONDO:GARD"} xref: HP:0002865 {source="MONDO:otherHierarchy"} @@ -352661,13 +352726,13 @@ subset: orphanet_rare {source="Orphanet:1333"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial pancreatic cancer" EXACT [NCIT:C43298, Orphanet:1333] -synonym: "familial pancreatic carcinoma" EXACT [NCIT:C43298] +synonym: "familial pancreatic carcinoma" EXACT [icd11.foundation:1385362916, NCIT:C43298, Orphanet:1333] synonym: "hereditary exocrine pancreatic carcinoma" EXACT [MONDO:patterns/hereditary] synonym: "hereditary pancreatic cancer" EXACT [NCIT:C43298] synonym: "hereditary pancreatic carcinoma" EXACT [NCIT:C43298] -synonym: "pancreatic acinar carcinoma" RELATED [OMIM:260350] -synonym: "pancreatic cancer, somatic" EXACT [OMIM:260350, OMIM:genemap2] -synonym: "pancreatic carcinoma, somatic" EXACT [OMIM:260350, OMIM:genemap2] +synonym: "pancreatic acinar carcinoma" RELATED [] +synonym: "pancreatic cancer, somatic" EXACT [] +synonym: "pancreatic carcinoma, somatic" EXACT [] xref: GARD:4206 {source="MONDO:GARD"} xref: ICD10CM:C25 {source="Orphanet:1333/inclusion", source="Orphanet:1333/ntbt", source="Orphanet:1333"} xref: icd11.foundation:1385362916 {source="MONDO:equivalentTo"} @@ -352694,7 +352759,7 @@ subset: orphanet_rare {source="Orphanet:1334"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CANDF" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] -synonym: "chronic mucocutaneous candidiasis" EXACT [DOID:2058, MONDO:ambiguous, NCIT:C34444] +synonym: "chronic mucocutaneous candidiasis" EXACT [DOID:2058, icd11.foundation:2120780687, MONDO:ambiguous, NCIT:C34444, Orphanet:1334] synonym: "chronic mucocutaneous candidiasis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "CMC" EXACT ABBREVIATION [Orphanet:1334] synonym: "familial candidiasis" EXACT [OMIMPS:114580] @@ -352738,9 +352803,9 @@ subset: rare synonym: "cardio-facial-cutaneous syndrome" EXACT [DOID:0060233] synonym: "cardio-facio-cutaneous syndrome" RELATED [GARD:0009146] synonym: "cardiofaciocutaneous (CFC) syndrome" EXACT [NCIT:C84617] -synonym: "cardiofaciocutaneous syndrome" EXACT CLINGEN_LABEL [] +synonym: "cardiofaciocutaneous syndrome" EXACT CLINGEN_LABEL [DOID:0060233, NCIT:C84617, OMIMPS:115150, Orphanet:1340] synonym: "CFC" EXACT ABBREVIATION [NCIT:C84617] -synonym: "CFC syndrome" EXACT [DOID:0060233, Orphanet:1340] +synonym: "CFC syndrome" EXACT [DOID:0060233, NCIT:C84617, Orphanet:1340] synonym: "congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure" RELATED [GARD:0009146] xref: DOID:0060233 {source="MONDO:equivalentTo"} xref: GARD:9146 {source="MONDO:GARD"} @@ -352873,14 +352938,15 @@ subset: orphanet_rare {source="Orphanet:1359"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "atrial myxoma with lentigines" EXACT [NCIT:C4705] -synonym: "Carney complex" EXACT CLINGEN_LABEL [] -synonym: "Carney complex variant" RELATED EXCLUDE [DOID:0050471] -synonym: "Carney Complex, type 1" NARROW [DOID:0050471] -synonym: "Carney Complex, type 2" NARROW [DOID:0050471] -synonym: "Carney syndrome" EXACT [DOID:0050471, Orphanet:1359] +synonym: "Carney complex" EXACT CLINGEN_LABEL [DOID:0050471, icd11.foundation:1051158630, NCIT:C4705, Orphanet:1359] +synonym: "Carney complex variant" RELATED EXCLUDE [] +synonym: "Carney Complex, type 1" NARROW [] +synonym: "Carney Complex, type 2" NARROW [] +synonym: "Carney syndrome" EXACT [DOID:0050471, icd11.foundation:1051158630, NCIT:C4705, Orphanet:1359] synonym: "Carney's syndrome" EXACT [NCIT:C4705] synonym: "CNC" EXACT ABBREVIATION [NCIT:C4705] -synonym: "lamb" EXACT [NCIT:C4705] +synonym: "LAMB" EXACT ABBREVIATION [NCIT:C4705] +synonym: "lamb" EXACT [] synonym: "lamb syndrome" EXACT [DOID:0050471] synonym: "lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome" EXACT [NCIT:C4705] synonym: "Myxoma - spotty pigmentation - endocrine overactivity" RELATED [GARD:0001119] @@ -352915,10 +352981,10 @@ subset: ordo_group_of_disorders {source="Orphanet:137"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "carbohydrate deficient glycoprotein syndrome" EXACT [Orphanet:137] -synonym: "carbohydrate-deficient glycoprotein syndrome" EXACT [DOID:5212] +synonym: "carbohydrate-deficient glycoprotein syndrome" EXACT [DOID:5212, NCIT:C84615] synonym: "carbohydrate-deficient glycoprotein syndromes" RELATED [GARD:0010307] synonym: "CDG" EXACT ABBREVIATION [Orphanet:137] -synonym: "congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] +synonym: "congenital disorder of glycosylation" EXACT CLINGEN_LABEL [DOID:5212, NCIT:C84615, Orphanet:137] synonym: "congenital disorders of glycosylation" RELATED [GARD:0010307] xref: DOID:5212 {source="MONDO:equivalentTo"} xref: GARD:10307 {source="MONDO:GARD"} @@ -352952,9 +353018,9 @@ subset: disease_grouping subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dendritic keratitis" EXACT [DOID:0080158] -synonym: "herpetic keratitis" EXACT [Orphanet:137586] -synonym: "HSV keratitis" EXACT [Orphanet:137586] +synonym: "dendritic keratitis" EXACT [DOID:0080158, NCIT:C34743] +synonym: "herpetic keratitis" EXACT [] +synonym: "HSV keratitis" EXACT [] synonym: "Simplexvirus caused keratitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Simplexvirus keratitis" EXACT [] xref: DOID:0080158 {source="MONDO:equivalentTo"} @@ -353084,7 +353150,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1498"} subset: ordo_disorder {source="Orphanet:137617"} subset: orphanet_rare {source="Orphanet:137617"} subset: rare -synonym: "nephrogenic fibrosing dermopathy" EXACT [Orphanet:137617] +synonym: "nephrogenic fibrosing dermopathy" EXACT [NCIT:C84920, Orphanet:137617] synonym: "NFD" RELATED ABBREVIATION [GARD:0009725] synonym: "NSF" RELATED ABBREVIATION [GARD:0009725] xref: GARD:9725 {source="MONDO:GARD"} @@ -353138,7 +353204,7 @@ is_a: MONDO:0005267 {source="MONDO:0015506-obsoleted"} ! heart disorder id: MONDO:0015297 name: obsolete microcephaly-digital anomalies-intellectual disability syndrome comment: Obsolete in Orphanet -synonym: "Kelly-Kirson-Wyatt syndrome" EXACT [Orphanet:137653] +synonym: "Kelly-Kirson-Wyatt syndrome" EXACT [] xref: ICD10CM:Q87.8 {source="Orphanet:137653", source="Orphanet:137653/attributed", source="Orphanet:137653/ntbt"} xref: Orphanet:137653 {source="MONDO:obsoleteEquivalentObsolete"} is_obsolete: true @@ -353170,11 +353236,11 @@ subset: nord_rare {source="NORD:811", source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:137686"} subset: orphanet_rare {source="Orphanet:137686"} subset: rare -synonym: "Asherman syndrome" EXACT [GARD:0005853] +synonym: "Asherman syndrome" EXACT [GARD:0005853, icd11.foundation:2022431339, Orphanet:137686] synonym: "Asherman's Syndrome" EXACT [NORD:811] synonym: "Asherman's syndrome" RELATED [GARD:0005853] -synonym: "intrauterine adhesions" EXACT [Orphanet:137686] -synonym: "intrauterine synechiae" EXACT [Orphanet:137686] +synonym: "intrauterine adhesions" EXACT [icd11.foundation:2022431339] +synonym: "intrauterine synechiae" EXACT [icd11.foundation:2022431339] synonym: "uterine synechiae" RELATED [GARD:0005853] xref: GARD:5853 {source="MONDO:GARD"} xref: ICD10CM:N85.6 {source="Orphanet:137686", source="Orphanet:137686/e"} @@ -353222,12 +353288,12 @@ subset: rare synonym: "amyloidosis familial cutaneous lichen" RELATED [GARD:0000132] synonym: "amyloidosis IX" RELATED [GARD:0000132] synonym: "amyloidosis, primary localised cutaneous" RELATED OMO:0003005 [] -synonym: "amyloidosis, primary localized cutaneous" RELATED [OMIMPS:105250] +synonym: "amyloidosis, primary localized cutaneous" RELATED [] synonym: "familial primary localised cutaneous amyloidosis" NARROW OMO:0003005 [] -synonym: "familial primary localized cutaneous amyloidosis" NARROW [DOID:0050639] +synonym: "familial primary localized cutaneous amyloidosis" NARROW [] synonym: "lichen amyloidosis familial" RELATED [GARD:0000132] -synonym: "PCA" RELATED EXCLUDE [DOID:0050639, GARD:0000132] -synonym: "PLCA" NARROW ABBREVIATION [Orphanet:137807] +synonym: "PCA" RELATED EXCLUDE [GARD:0000132] +synonym: "PLCA" NARROW ABBREVIATION [] synonym: "primary localised cutaneous amyloidosis" EXACT OMO:0003005 [] synonym: "primary localized cutaneous amyloidosis" EXACT [Orphanet:137807] xref: DOID:0050639 {source="MONDO:equivalentTo"} @@ -353330,8 +353396,8 @@ id: MONDO:0015305 name: obsolete rare endometriosis def: "OBSOLETE. Rare endometriosis." [] subset: ordo_disorder {source="Orphanet:137820"} -synonym: "endometriosis outside pelvis" EXACT [Orphanet:137820] -synonym: "extrapelvic endometriosis" RELATED [Orphanet:137820] +synonym: "endometriosis outside pelvis" EXACT [] +synonym: "extrapelvic endometriosis" RELATED [] synonym: "rare endometriosis" EXACT [] synonym: "rare endometriosis (disease)" EXACT [MONDO:patterns/rare] xref: ICD10CM:N80.0 {source="Orphanet:137820", source="Orphanet:137820/btnt", source="MONDO:directSiblingOf"} @@ -353361,8 +353427,8 @@ subset: rare synonym: "acute sore throat" RELATED [DOID:11337] synonym: "human necrobacillosis" EXACT [DOID:11337] synonym: "Lemierre postanginal sepsis" EXACT [Orphanet:137839] -synonym: "Lemierre syndrome" EXACT [DOID:11337] -synonym: "Lemierre's syndrome" RELATED [DOID:11337] +synonym: "Lemierre syndrome" EXACT [DOID:11337, Orphanet:137839] +synonym: "Lemierre's syndrome" RELATED [] synonym: "necrobacillosis" RELATED [GARD:0006882] synonym: "oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein" RELATED [GARD:0006882] synonym: "postanginal sepsis" EXACT [DOID:11337] @@ -353409,7 +353475,7 @@ is_a: MONDO:0020128 {source="Orphanet:137867", source="Orphanet:137867/inferred" id: MONDO:0015308 name: laminopathy type Decaudain-Vigouroux def: "Laminopathy, type Decaudain-Vigouroux is characterized by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness." [Orphanet:137871] -synonym: "laminopathy with severe metabolic syndrome and myopathy" EXACT [Orphanet:137871] +synonym: "laminopathy with severe metabolic syndrome and myopathy" EXACT [icd11.foundation:815630778] xref: ICD10CM:E88.8 {source="Orphanet:137871/attributed", source="Orphanet:137871/ntbt", source="Orphanet:137871"} xref: icd11.foundation:815630778 {source="MONDO:equivalentTo"} xref: MEDGEN:1375333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -353526,7 +353592,7 @@ subset: ordo_disorder {source="Orphanet:137932"} subset: ordo_malformation_syndrome {source="Orphanet:137932"} subset: orphanet_rare {source="Orphanet:137932"} subset: rare -synonym: "congenital vocal cord paralysis" EXACT [Orphanet:137932] +synonym: "congenital vocal cord paralysis" EXACT [icd11.foundation:1508780420, Orphanet:137932] xref: GARD:12713 {source="MONDO:GARD"} xref: ICD10CM:J38.0 {source="Orphanet:137932/ntbt", source="Orphanet:137932"} xref: icd11.foundation:1508780420 {source="MONDO:equivalentTo"} @@ -353604,7 +353670,7 @@ consider: MONDO:0018187 id: MONDO:0015323 name: obsolete teratogenic Pierre Robin syndrome subset: ordo_group_of_disorders {source="Orphanet:138059"} -synonym: "teratogenic Pierre Robin sequence" EXACT [Orphanet:138059] +synonym: "teratogenic Pierre Robin sequence" EXACT [] xref: Orphanet:138059 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015501 {source="MONDO:0015319-obsoleted", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -353709,9 +353775,9 @@ name: obsolete rare bone development disorder def: "OBSOLETE. Any of the forms of bone development disease that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:139012"} -synonym: "bone development disorder" EXACT [NCIT:C34432] +synonym: "bone development disorder" EXACT [] synonym: "rare bone development disease" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/rare] -synonym: "rare skeletal development disorder" EXACT [Orphanet:139012] +synonym: "rare skeletal development disorder" EXACT [] xref: NCIT:C34432 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:139012 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -353796,7 +353862,7 @@ is_obsolete: true id: MONDO:0015335 name: obsolete Mendelian syndromes with cleft lip/palate subset: ordo_group_of_disorders {source="Orphanet:139039"} -synonym: "orofacial clefting syndrome" EXACT [Orphanet:139039] +synonym: "orofacial clefting syndrome" EXACT [] xref: Orphanet:139039 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:139039", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -353845,7 +353911,7 @@ subset: ordo_group_of_disorders {source="Orphanet:139393"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "syndrome associated with craniosynostosis" EXACT [MONDO:patterns/syndromic] -synonym: "syndromic craniosynostosis" EXACT [MONDO:patterns/syndromic] +synonym: "syndromic craniosynostosis" EXACT [MONDO:patterns/syndromic, Orphanet:139393] xref: GARD:19911 {source="MONDO:GARD"} xref: MEDGEN:1842203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:139393 {source="MONDO:equivalentTo"} @@ -353868,8 +353934,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:139399"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adrenomyeloneuropathy" EXACT CLINGEN_LABEL [Orphanet:139399] -synonym: "AMN" EXACT ABBREVIATION [GARD:0010614, OMIM:300100] +synonym: "adrenomyeloneuropathy" EXACT CLINGEN_LABEL [icd11.foundation:1214673956, Orphanet:139399] +synonym: "AMN" EXACT ABBREVIATION [GARD:0010614] xref: GARD:10614 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:139399/attributed", source="Orphanet:139399/ntbt", source="Orphanet:139399"} xref: icd11.foundation:1214673956 {source="MONDO:equivalentTo"} @@ -353895,11 +353961,12 @@ subset: ordo_disorder {source="Orphanet:139402"} subset: orphanet_rare {source="Orphanet:139402"} subset: rare synonym: "DHS" EXACT ABBREVIATION [NCIT:C112208] -synonym: "dress" EXACT [NCIT:C112208] -synonym: "DRESS syndrome" EXACT [Orphanet:139402] +synonym: "DRESS" EXACT ABBREVIATION [NCIT:C112208] +synonym: "dress" EXACT [] +synonym: "DRESS syndrome" EXACT [icd11.foundation:516577496, Orphanet:139402] synonym: "Drug hypersensitivity syndrome" EXACT [NCIT:C112208] -synonym: "drug reaction eosinophilic systemic syndrome" EXACT [Orphanet:139402] -synonym: "Drug reaction with eosinophilia and Systemic symptoms" EXACT [NCIT:C112208] +synonym: "drug reaction eosinophilic systemic syndrome" EXACT [] +synonym: "Drug reaction with eosinophilia and Systemic symptoms" EXACT [NCIT:C112208, Orphanet:139402] xref: GARD:13629 {source="MONDO:GARD"} xref: icd11.foundation:516577496 {source="Orphanet:139402", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} xref: MedDRA:10058919 {source="Orphanet:139402", source="Orphanet:139402/e"} @@ -353927,7 +353994,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:139414"} subset: orphanet_rare {source="Orphanet:139414"} subset: rare -synonym: "congenital panfollicular nevus" EXACT [MONDO:ambiguous] +synonym: "congenital panfollicular nevus" EXACT [MONDO:ambiguous, Orphanet:139414] synonym: "congenital panfollicular nevus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:19912 {source="MONDO:GARD"} xref: HP:0025471 {source="MONDO:otherHierarchy"} @@ -353966,7 +354033,7 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0015343 name: obsolete secondary acute transverse myelitis def: "OBSOLETE. Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease." [Orphanet:139420] -synonym: "disease-associated transverse myelitis" EXACT [Orphanet:139420] +synonym: "disease-associated transverse myelitis" EXACT [] xref: ICD10CM:G37.3 {source="Orphanet:139420/ntbt", source="Orphanet:139420"} xref: Orphanet:139420 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} @@ -353982,7 +354049,7 @@ subset: gard_rare {source="GARD:19914", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:139423"} subset: rare -synonym: "ATM/TM" EXACT [Orphanet:139423] +synonym: "ATM/TM" EXACT [] xref: GARD:19914 {source="MONDO:GARD"} xref: ICD10CM:G37.3 {source="Orphanet:139423", source="Orphanet:139423/ntbt"} xref: Orphanet:139423 {source="MONDO:equivalentTo"} @@ -354022,10 +354089,10 @@ subset: rare synonym: "EEM" EXACT ABBREVIATION [https://www.epilepsydiagnosis.org/syndrome/emwa-overview.html] synonym: "EMA" EXACT ABBREVIATION [Orphanet:139431] synonym: "EMEA" EXACT ABBREVIATION [Orphanet:139431] -synonym: "Epilepsy with Eyelid Myoclonia" EXACT [NORD:152960] +synonym: "Epilepsy with Eyelid Myoclonia" EXACT [NORD:152960, Orphanet:139431] synonym: "epilepsy with eyelid myoclonias" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-8486-0558, https://www.epilepsydiagnosis.org/syndrome/emwa-overview.html] synonym: "eyelid myoclonia with and without absences" EXACT [Orphanet:139431] -synonym: "Jeavons syndrome" EXACT [Orphanet:139431] +synonym: "Jeavons syndrome" EXACT [icd11.foundation:262814036, Orphanet:139431] xref: GARD:19916 {source="MONDO:GARD"} xref: ICD10CM:G40.3 {source="Orphanet:139431/ntbt", source="Orphanet:139431"} xref: icd11.foundation:262814036 {source="MONDO:equivalentTo"} @@ -354050,7 +354117,7 @@ subset: orphanet_rare {source="Orphanet:139436"} subset: rare synonym: "giant cell histiocytomatosis" EXACT [Orphanet:139436] synonym: "lipoid dermatoarthritis" EXACT [DOID:11824, Orphanet:139436] -synonym: "multicentric reticulohistiocytosis" EXACT [DOID:11824] +synonym: "multicentric reticulohistiocytosis" EXACT [DOID:11824, icd11.foundation:977116795, NCIT:C27896, Orphanet:139436] xref: DOID:11824 {source="MONDO:equivalentTo"} xref: GARD:7103 {source="MONDO:GARD"} xref: ICD10CM:D76.3 {source="Orphanet:139436/ntbt", source="Orphanet:139436"} @@ -354118,7 +354185,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chromosome 17q11.2 duplication syndrome, 1.4-mb" EXACT [MONDO:0030032, OMIM:618874] synonym: "dup(17)(q11.2)" EXACT [Orphanet:139474] -synonym: "Grisart-Destree syndrome" EXACT [Orphanet:139474] +synonym: "Grisart-Destree syndrome" EXACT [] synonym: "Grisart-Destrée syndrome" EXACT [Orphanet:139474] synonym: "Nf1 Microduplication Syndrome" EXACT [OMIM:618874] synonym: "trisomy 17q11.2" EXACT [Orphanet:139474] @@ -354189,18 +354256,18 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dHMN 5A" EXACT [OMIM:600794] -synonym: "dHMN5" BROAD [Orphanet:139536] -synonym: "distal hereditary motor neuropathy type V" BROAD [Orphanet:139536] -synonym: "distal HMN V" BROAD [Orphanet:139536] -synonym: "distal spinal muscular atrophy type 5" BROAD [Orphanet:139536] +synonym: "dHMN5" BROAD [] +synonym: "distal hereditary motor neuropathy type V" BROAD [] +synonym: "distal HMN V" BROAD [] +synonym: "distal spinal muscular atrophy type 5" BROAD [] synonym: "HMN 5A" EXACT [OMIM:600794] -synonym: "HMN5A" EXACT ABBREVIATION [MONDO:Lexical, OMIM:600794] -synonym: "neuronopathy, distal hereditary motor, type 5" BROAD [OMIM:600794] +synonym: "HMN5A" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "neuronopathy, distal hereditary motor, type 5" BROAD [] synonym: "neuronopathy, distal hereditary motor, type 5A" EXACT [MONDO:0010935] -synonym: "neuronopathy, distal hereditary motor, type VA" EXACT [MONDO:Lexical, OMIM:600794] -synonym: "neuropathy, distal hereditary motor, type 5A" EXACT [OMIM:600794] -synonym: "spinal muscular atrophy, distal, type 5" BROAD [OMIM:600794] -synonym: "spinal muscular atrophy, distal, type 5A" EXACT [OMIM:600794] +synonym: "neuronopathy, distal hereditary motor, type VA" EXACT [MONDO:Lexical] +synonym: "neuropathy, distal hereditary motor, type 5A" EXACT [] +synonym: "spinal muscular atrophy, distal, type 5" BROAD [] +synonym: "spinal muscular atrophy, distal, type 5A" EXACT [] synonym: "spinal muscular atrophy, distal, with upper limb predominance" EXACT [OMIM:600794] xref: DOID:0111204 {source="MONDO:equivalentObsolete"} xref: GARD:18266 {source="MONDO:GARD"} @@ -354244,8 +354311,8 @@ subset: ordo_disorder {source="Orphanet:139589"} subset: orphanet_rare {source="Orphanet:139589"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dHMN7" EXACT [Orphanet:139589] -synonym: "distal spinal muscular atrophy with vocal cord paralysis" EXACT [Orphanet:139589] +synonym: "dHMN7" EXACT ABBREVIATION [DOID:0111199, Orphanet:139589] +synonym: "distal spinal muscular atrophy with vocal cord paralysis" EXACT [DOID:0111199, Orphanet:139589] xref: DOID:0111199 {source="MONDO:equivalentTo"} xref: GARD:16960 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:139589", source="Orphanet:139589/attributed", source="Orphanet:139589/ntbt"} @@ -354276,7 +354343,7 @@ synonym: "hereditary neoplastic syndrome" EXACT [MESH:D009386, MONDO:patterns/he synonym: "hereditary neoplastic syndromes" EXACT [MESH:D009386] synonym: "hereditary tumor syndrome" EXACT [NCIT:C3266] synonym: "hereditary tumour syndrome" EXACT OMO:0003005 [] -synonym: "inherited cancer syndrome" EXACT [NCIT:C3266] +synonym: "inherited cancer syndrome" EXACT [] synonym: "inherited cancer-predisposing syndrome" EXACT [Orphanet:140162] synonym: "neoplastic syndrome, hereditary" EXACT [MESH:D009386] synonym: "syndrome, hereditary cancer" EXACT [MESH:D009386] @@ -354323,7 +354390,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:12685", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HMSN" EXACT ABBREVIATION [Orphanet:140450] +synonym: "HMSN" EXACT ABBREVIATION [] xref: GARD:12685 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:140450", source="Orphanet:140450/specific", source="Orphanet:140450/e"} xref: icd11.foundation:1538134578 {source="MONDO:equivalentTo"} @@ -354388,7 +354455,7 @@ subset: ordo_group_of_disorders {source="Orphanet:140465"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant dHMN" EXACT [DOID:0111198, Orphanet:140465] -synonym: "autosomal dominant distal hereditary motor neuropathy" EXACT CLINGEN_LABEL [DOID:0111198] +synonym: "autosomal dominant distal hereditary motor neuropathy" EXACT CLINGEN_LABEL [DOID:0111198, Orphanet:140465] synonym: "autosomal dominant distal spinal muscular atrophy" EXACT [DOID:0111198, Orphanet:140465] synonym: "distal hereditary motor neuropathy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:0111198 {source="MONDO:equivalentTo"} @@ -354419,7 +354486,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive dHMN" EXACT [Orphanet:140468] synonym: "autosomal recessive distal hereditary motor neuropathy" EXACT [Orphanet:140468] -synonym: "autosomal recessive distal spinal muscular atrophy" EXACT [Orphanet:140468] +synonym: "autosomal recessive distal spinal muscular atrophy" EXACT [DOID:0111197, Orphanet:140468] synonym: "autosomal recessive dSMA" EXACT [Orphanet:140468] synonym: "distal hereditary motor neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: DOID:0111197 {source="MONDO:equivalentTo"} @@ -354446,14 +354513,14 @@ subset: ordo_group_of_disorders {source="Orphanet:140471"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CIP" EXACT ABBREVIATION [NCIT:C125386] -synonym: "congenital insensitivity to pain" EXACT [DOID:0050548, NCIT:C125386] +synonym: "congenital insensitivity to pain" EXACT [NCIT:C125386] synonym: "congenital pain insensitivity" EXACT [NCIT:C125386] synonym: "familial dysautonomia, type II" EXACT EXCLUDE [] -synonym: "hereditary sensory and autonomic neuropathy" EXACT [DOID:0050548, PMID:15367861] +synonym: "hereditary sensory and autonomic neuropathy" EXACT [DOID:0050548, OMIMPS:162400, Orphanet:140471, PMID:15367861] synonym: "hereditary sensory autonomic neuropathy" RELATED [GARD:0012688] -synonym: "hereditary sensory neuropathy" EXACT [PMID:15367861] +synonym: "hereditary sensory neuropathy" EXACT [DOID:0050548, PMID:15367861] synonym: "hereditary sensory peripheral neuropathy" EXACT [MONDO:patterns/hereditary] -synonym: "HSAN" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] +synonym: "HSAN" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165, Orphanet:140471] synonym: "indifference to pain, Congenital, autosomal recessive" EXACT [NCIT:C125386] xref: DOID:0050548 {source="MONDO:equivalentTo"} xref: GARD:12688 {source="MONDO:GARD"} @@ -354551,7 +354618,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:140874"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Joubert syndrome and related disorders" EXACT CLINGEN_LABEL [] +synonym: "Joubert syndrome and related disorders" EXACT CLINGEN_LABEL [Orphanet:140874] synonym: "JSRD" EXACT ABBREVIATION [Orphanet:140874] xref: GARD:19931 {source="MONDO:GARD"} xref: MEDGEN:1826007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -354628,7 +354695,7 @@ synonym: "isolated angiitis of the central nervous system" EXACT [Orphanet:14098 synonym: "PACNS" EXACT ABBREVIATION [GARD:0008703, Orphanet:140989] synonym: "PCNSV" EXACT ABBREVIATION [Orphanet:140989] synonym: "primary angiitis of the central nervous system" EXACT [Orphanet:140989] -synonym: "primary central nervous system vasculitis" EXACT [GARD:0008703] +synonym: "primary central nervous system vasculitis" EXACT [GARD:0008703, Orphanet:140989] synonym: "primary CNS vasculitis" RELATED [GARD:0008703] synonym: "primary vasculitis of the central nervous system" EXACT [Orphanet:140989] xref: GARD:8703 {source="MONDO:GARD"} @@ -354658,10 +354725,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "OFD" EXACT ABBREVIATION [Orphanet:140997] synonym: "oral facial digital syndromes" RELATED [GARD:0010692] -synonym: "Oral-Facial-Digital Syndrome" EXACT [NORD:1529] -synonym: "oral-facial-digital syndrome" EXACT [Orphanet:140997] +synonym: "Oral-Facial-Digital Syndrome" EXACT [DOID:4501, icd11.foundation:1405407847, NORD:1529, Orphanet:140997] +synonym: "oral-facial-digital syndrome" EXACT [DOID:4501, icd11.foundation:1405407847, Orphanet:140997] synonym: "oral-facial-digital syndromes" RELATED [GARD:0010692] -synonym: "orofaciodigital syndrome" EXACT [MONDO:0003020] +synonym: "orofaciodigital syndrome" EXACT [DOID:4501, MONDO:0003020, OMIMPS:311200, Orphanet:140997] synonym: "orofaciodigital syndromes" RELATED [GARD:0010692] xref: DOID:4501 {source="MONDO:equivalentTo"} xref: GARD:10692 {source="MONDO:GARD"} @@ -354690,8 +354757,8 @@ subset: ordo_disorder {source="Orphanet:141013"} subset: ordo_morphological_anomaly {source="Orphanet:141013"} subset: orphanet_rare {source="Orphanet:141013"} subset: rare -synonym: "first branchial cleft cyst" EXACT [Orphanet:141013] -synonym: "first branchial cleft fistula" EXACT [Orphanet:141013] +synonym: "first branchial cleft cyst" EXACT [icd11.foundation:1956658224, Orphanet:141013] +synonym: "first branchial cleft fistula" EXACT [icd11.foundation:1956658224, Orphanet:141013] xref: GARD:19934 {source="MONDO:GARD"} xref: ICD10CM:Q18.0 {source="Orphanet:141013", source="Orphanet:141013/ntbt"} xref: icd11.foundation:1956658224 {source="MONDO:equivalentTo"} @@ -354834,7 +354901,7 @@ subset: ordo_disorder {source="Orphanet:141067"} subset: ordo_morphological_anomaly {source="Orphanet:141067"} subset: orphanet_rare {source="Orphanet:141067"} subset: rare -synonym: "cervicofacial enchondroma" EXACT [Orphanet:141067] +synonym: "cervicofacial enchondroma" EXACT [icd11.foundation:427530222] xref: GARD:19941 {source="MONDO:GARD"} xref: icd11.foundation:427530222 {source="MONDO:equivalentTo"} xref: MEDGEN:1684766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -354870,7 +354937,7 @@ intersection_of: disease_has_location UBERON:0001723 ! tongue id: MONDO:0015385 name: obsolete external auditory canal aplasia/hypoplasia subset: ordo_disorder {source="Orphanet:141074"} -synonym: "external auditory canal stenosis/atresia" EXACT [Orphanet:141074] +synonym: "external auditory canal stenosis/atresia" EXACT [] xref: ICD10CM:Q16.1 {source="Orphanet:141074", source="Orphanet:141074/e", source="Orphanet:141074/specific"} xref: icd11.foundation:534621578 {source="Orphanet:141074", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:141074 {source="MONDO:obsoleteEquivalent"} @@ -354889,9 +354956,9 @@ subset: gard_rare {source="GARD:19943", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:141077"} subset: rare -synonym: "Epignathus" EXACT [MONDO:ambiguous] +synonym: "Epignathus" EXACT [icd11.foundation:7319064, MONDO:ambiguous, Orphanet:141077] synonym: "epignathus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "oropharyngeal teratoma" EXACT [Orphanet:141077] +synonym: "oropharyngeal teratoma" EXACT [icd11.foundation:7319064, Orphanet:141077] xref: GARD:19943 {source="MONDO:GARD"} xref: HP:0030767 {source="MONDO:otherHierarchy"} xref: ICD10CM:D37.0 {source="Orphanet:141077/ntbt", source="Orphanet:141077"} @@ -354916,7 +354983,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:141083"} subset: orphanet_rare {source="Orphanet:141083"} subset: rare synonym: "dacryocele" EXACT [Orphanet:141083] -synonym: "dacryocystocele" RELATED [Orphanet:141083] +synonym: "dacryocystocele" RELATED [] synonym: "nasolacrimal mucocele" EXACT [Orphanet:141083] xref: GARD:19944 {source="MONDO:GARD"} xref: ICD10CM:H04.6 {source="Orphanet:141083/ntbt", source="Orphanet:141083"} @@ -354936,7 +355003,7 @@ subset: ordo_disorder {source="Orphanet:141091"} subset: ordo_malformation_syndrome {source="Orphanet:141091"} subset: orphanet_rare {source="Orphanet:141091"} subset: rare -synonym: "Double nose" EXACT [Orphanet:141091] +synonym: "Double nose" EXACT [icd11.foundation:142812177, Orphanet:141091] synonym: "Polyrhinia" EXACT [Orphanet:141091] xref: GARD:19945 {source="MONDO:GARD"} xref: ICD10CM:Q30.8 {source="Orphanet:141091/ntbt", source="Orphanet:141091"} @@ -354979,7 +355046,7 @@ subset: ordo_disorder {source="Orphanet:141099"} subset: ordo_malformation_syndrome {source="Orphanet:141099"} subset: orphanet_rare {source="Orphanet:141099"} subset: rare -synonym: "congenital tubular nose" EXACT [Orphanet:141099] +synonym: "congenital tubular nose" EXACT [icd11.foundation:646148612, Orphanet:141099] xref: GARD:19947 {source="MONDO:GARD"} xref: ICD10CM:Q30.8 {source="Orphanet:141099/ntbt", source="Orphanet:141099"} xref: icd11.foundation:646148612 {source="MONDO:equivalentTo"} @@ -355020,7 +355087,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:141112"} subset: orphanet_rare {source="Orphanet:141112"} subset: rare -synonym: "nasal glioma" EXACT [Orphanet:141112] +synonym: "nasal glioma" EXACT [icd11.foundation:1449384774, Orphanet:141112] xref: GARD:19949 {source="MONDO:GARD"} xref: icd11.foundation:1449384774 {source="MONDO:equivalentTo"} xref: ICD9:748.1 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -355124,33 +355191,33 @@ subset: ordo_malformation_syndrome {source="Orphanet:141136", source="Orphanet:3 subset: orphanet_rare {source="Orphanet:141132"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Expanded spectrum hemifacial microsomia" EXACT [Orphanet:374] -synonym: "Expanded spectrum of hemifacial microsomia" EXACT [Orphanet:374] +synonym: "Expanded spectrum hemifacial microsomia" EXACT [] +synonym: "Expanded spectrum of hemifacial microsomia" EXACT [] synonym: "facio-auriculo-vertebral spectrum" EXACT [DOID:2907] -synonym: "facioauriculovertebral dysplasia" EXACT [Orphanet:374] -synonym: "facioauriculovertebral sequence" RELATED [OMIM:164210] -synonym: "Fav sequence" RELATED [OMIM:164210] +synonym: "facioauriculovertebral dysplasia" EXACT [] +synonym: "facioauriculovertebral sequence" RELATED [] +synonym: "Fav sequence" RELATED [] synonym: "first and second branchial arch syndrome" EXACT [DOID:2907] synonym: "first arch syndrome" EXACT [DOID:2907] -synonym: "first branchial arch syndrome" EXACT [Orphanet:141136] +synonym: "first branchial arch syndrome" EXACT [] synonym: "Goldenhar disease" EXACT [GARD:0006540] -synonym: "Goldenhar syndrome" EXACT [OMIM:164210] -synonym: "hemifacial microsomia" EXACT [DOID:2907, MONDO:Lexical, OMIM:164210] -synonym: "HFM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164210] -synonym: "Laterofacial microsomia" EXACT [Orphanet:141136] +synonym: "Goldenhar syndrome" EXACT [DOID:2907, NCIT:C84740, Orphanet:141132] +synonym: "hemifacial microsomia" EXACT [DOID:2907, MONDO:Lexical] +synonym: "HFM" EXACT ABBREVIATION [MONDO:Lexical] +synonym: "Laterofacial microsomia" EXACT [] synonym: "OAV (oculoauriculovertebral) dysplasia" EXACT [DOID:2907] -synonym: "OAV dysplasia" EXACT [OMIM:164210, Orphanet:374] +synonym: "OAV dysplasia" EXACT [] synonym: "OAV spectrum" EXACT [Orphanet:141132] synonym: "OAVD" RELATED ABBREVIATION [GARD:0012074] -synonym: "OAVS" EXACT ABBREVIATION [Orphanet:374] +synonym: "OAVS" EXACT ABBREVIATION [] synonym: "oculo-auriculo-vertebral dysplasia" RELATED [GARD:0012074] synonym: "oculo-auriculo-vertebral spectrum" EXACT [Orphanet:141132] -synonym: "oculoauriculovertebral dysplasia" EXACT [OMIM:164210, Orphanet:374] -synonym: "oculoauriculovertebral spectrum" EXACT [OMIM:164210] -synonym: "oculoauriculovertebral syndrome" EXACT [Orphanet:374] -synonym: "otomandibular dysostosis" EXACT EXCLUDE [DOID:2907, Orphanet:141136] -synonym: "otomandibular syndrome" EXACT [Orphanet:141136] -synonym: "unilateral or bilateral and asymmetric otomandibular dysplasia" EXACT [Orphanet:141132] +synonym: "oculoauriculovertebral dysplasia" EXACT [] +synonym: "oculoauriculovertebral spectrum" EXACT [Orphanet:141132] +synonym: "oculoauriculovertebral syndrome" EXACT [] +synonym: "otomandibular dysostosis" EXACT EXCLUDE [] +synonym: "otomandibular syndrome" EXACT [] +synonym: "unilateral or bilateral and asymmetric otomandibular dysplasia" EXACT [] xref: DOID:2907 {source="MONDO:equivalentTo"} xref: GARD:12074 {source="MONDO:GARD"} xref: ICD10CM:Q75.8 {source="Orphanet:141136", source="Orphanet:141136/attributed", source="Orphanet:141136/ntbt"} @@ -355285,7 +355352,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:141179"} subset: orphanet_rare {source="Orphanet:141179"} subset: rare -synonym: "NICH" EXACT ABBREVIATION [GARD:0010890, https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, Orphanet:141179] +synonym: "NICH" EXACT ABBREVIATION [GARD:0010890, https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, NCIT:C172208, Orphanet:141179] synonym: "noninvoluting congenital hemangioma" EXACT [GARD:0010890] xref: GARD:10890 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:141179", source="Orphanet:141179/ntbt"} @@ -355308,7 +355375,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:141184"} subset: orphanet_rare {source="Orphanet:141184"} subset: rare -synonym: "rich" EXACT [https://www.cincinnatichildrens.org/health/c/congenital-hemangioma, Orphanet:141184] +synonym: "RICH" EXACT ABBREVIATION [NCIT:C172207, Orphanet:141184] +synonym: "rich" EXACT [https://www.cincinnatichildrens.org/health/c/congenital-hemangioma] xref: DOID:0080895 {source="MONDO:equivalentTo"} xref: GARD:19958 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:141184", source="Orphanet:141184/ntbt"} @@ -355394,8 +355462,9 @@ synonym: "disseminated lymphangioma" EXACT [Orphanet:141209] synonym: "disseminated lymphangiomatosis" EXACT [Orphanet:141209] synonym: "disseminated lymphatic malformation" EXACT [Orphanet:141209] synonym: "generalised lymphatic anomaly" EXACT OMO:0003005 [] -synonym: "generalized lymphatic anomaly" EXACT [Orphanet:141209] -synonym: "Gla" EXACT [Orphanet:141209] +synonym: "generalized lymphatic anomaly" EXACT [DOID:0081031, Orphanet:141209] +synonym: "GLA" EXACT ABBREVIATION [Orphanet:141209] +synonym: "Gla" EXACT [] xref: DOID:0081031 {source="MONDO:equivalentTo"} xref: GARD:19961 {source="MONDO:GARD"} xref: ICD10CM:I89.8 {source="Orphanet:141209/ntbt", source="Orphanet:141209"} @@ -355455,9 +355524,9 @@ subset: gard_rare {source="GARD:19964", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:141229"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cleft face" EXACT [NCIT:C124510] +synonym: "cleft face" EXACT [] synonym: "craniofacial cleft" EXACT [Orphanet:141229] -synonym: "prosoposchisis" RELATED [NCIT:C124510] +synonym: "prosoposchisis" RELATED [] xref: GARD:19964 {source="MONDO:GARD"} xref: ICD10CM:Q18.8 {source="Orphanet:141229/ntbt", source="Orphanet:141229"} xref: icd11.foundation:11389088 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:141229"} @@ -355473,8 +355542,8 @@ is_a: MONDO:0023369 {source="MONDO:0019038-obsoleted"} ! disorder of facial skel id: MONDO:0015412 name: obsolete median facial cleft subset: ordo_group_of_disorders {source="Orphanet:141234"} -synonym: "Midline facial cleft" EXACT [Orphanet:141234] -synonym: "Tessier number 0-14 and 30 facial cleft" EXACT [Orphanet:141234] +synonym: "Midline facial cleft" EXACT [] +synonym: "Tessier number 0-14 and 30 facial cleft" EXACT [] xref: ICD10CM:Q18.8 {source="Orphanet:141234", source="Orphanet:141234/ntbt"} xref: Orphanet:141234 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -355533,7 +355602,7 @@ is_a: MONDO:0008866 ! bifid nose, autosomal recessive id: MONDO:0015415 name: obsolete oblique facial cleft subset: ordo_group_of_disorders {source="Orphanet:141253"} -synonym: "Orbitofacial cleft" EXACT [Orphanet:141253] +synonym: "Orbitofacial cleft" EXACT [] xref: ICD10CM:Q18.8 {source="Orphanet:141253/ntbt", source="Orphanet:141253"} xref: Orphanet:141253 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -355587,8 +355656,8 @@ id: MONDO:0015418 name: obsolete lateral facial cleft subset: ordo_group_of_disorders {source="Orphanet:141269"} subset: otar {source="MONDO:OTAR"} -synonym: "Tessier number 7 facial cleft" EXACT [Orphanet:141269] -synonym: "transverse facial cleft" EXACT [Orphanet:141269] +synonym: "Tessier number 7 facial cleft" EXACT [] +synonym: "transverse facial cleft" EXACT [] xref: ICD10CM:Q18.8 {source="Orphanet:141269", source="Orphanet:141269/attributed", source="Orphanet:141269/ntbt"} xref: Orphanet:141269 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -355653,13 +355722,13 @@ subset: gard_rare {source="GARD:10693", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:141327"} subset: rare -synonym: "Moran-Barroso syndrome" EXACT [Orphanet:141327] -synonym: "OFD12" EXACT ABBREVIATION [Orphanet:141327] +synonym: "Moran-Barroso syndrome" EXACT [] +synonym: "OFD12" EXACT ABBREVIATION [] synonym: "OFDS 12" RELATED [GARD:0010693] synonym: "oral facial digital syndrome 12" RELATED [GARD:0010693] synonym: "oral facial digital syndrome type 12" RELATED [GARD:0010693] synonym: "oral-facial-digital syndrome 12" RELATED [GARD:0010693] -synonym: "oral-facial-digital syndrome type 12" EXACT [Orphanet:141327] +synonym: "oral-facial-digital syndrome type 12" EXACT [] synonym: "orofaciodigital syndrome 12" RELATED [GARD:0010693] synonym: "orofaciodigital syndrome XII" RELATED [GARD:0010693] xref: GARD:10693 {source="MONDO:GARD"} @@ -355681,14 +355750,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: ordo_malformation_syndrome {source="Orphanet:141330"} subset: rare -synonym: "Degner syndrome" EXACT [Orphanet:141330] +synonym: "Degner syndrome" EXACT [] synonym: "OFD syndrome 13" RELATED [GARD:0010694] -synonym: "OFD13" EXACT ABBREVIATION [Orphanet:141330] +synonym: "OFD13" EXACT ABBREVIATION [] synonym: "OFDS 13" RELATED [GARD:0010694] synonym: "oral facial digital syndrome 13" RELATED [GARD:0010694] synonym: "oral facial digital syndrome type 13" RELATED [GARD:0010694] synonym: "oral-facial-digital syndrome 13" RELATED [GARD:0010694] -synonym: "oral-facial-digital syndrome type 13" EXACT [Orphanet:141330] +synonym: "oral-facial-digital syndrome type 13" EXACT [] synonym: "oral-facial-digital syndrome XIII" RELATED [GARD:0010694] synonym: "orofaciodigital syndrome 13" RELATED [GARD:0010694] synonym: "orofaciodigital syndrome XIII" RELATED [GARD:0010694] @@ -355715,7 +355784,7 @@ id: MONDO:0015424 name: obsolete lethal chondrodysplasia, Moerman type subset: gard_rare {source="GARD:3225", source="MONDO:GARD"} synonym: "lethal chondrodysplasia Moerman type" RELATED [GARD:0003225] -synonym: "Moerman-Vandenberghe-Fryns syndrome" EXACT [Orphanet:1420] +synonym: "Moerman-Vandenberghe-Fryns syndrome" EXACT [] xref: GARD:3225 {source="MONDO:obsoleteEquivalent", source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:1420", source="Orphanet:1420/attributed", source="Orphanet:1420/ntbt"} xref: Orphanet:1420 {source="MONDO:obsoleteEquivalentObsolete"} @@ -355762,9 +355831,9 @@ subset: ordo_disorder {source="Orphanet:1425"} subset: orphanet_rare {source="Orphanet:1425"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DBQD" EXACT ABBREVIATION [NCIT:C124056] -synonym: "Desbuquois dysplasia" EXACT [Orphanet:1425] -synonym: "desbuquois syndrome" EXACT [DOID:0060462] +synonym: "DBQD" EXACT ABBREVIATION [NCIT:C124056, Orphanet:1425] +synonym: "Desbuquois dysplasia" EXACT [DOID:0060462, NCIT:C124056, OMIMPS:251450, Orphanet:1425] +synonym: "desbuquois syndrome" EXACT [DOID:0060462, Orphanet:1425] synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" EXACT [DOID:0060462] synonym: "micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" RELATED [GARD:0001818] xref: DOID:0060462 {source="MONDO:equivalentTo"} @@ -355853,8 +355922,8 @@ synonym: "chromosome 1, ring" RELATED [GTR:AN0102272] synonym: "r(1) syndrome" EXACT [Orphanet:1437] synonym: "R1" RELATED ABBREVIATION [GARD:0001320] synonym: "Ring 1" EXACT [Orphanet:1437] -synonym: "Ring chromosome 1 syndrome" RELATED [Orphanet:1437] -synonym: "Ring chromosome type 1" EXACT [MONDORULE:1, Orphanet:1437] +synonym: "Ring chromosome 1 syndrome" RELATED [] +synonym: "Ring chromosome type 1" EXACT [MONDORULE:1] xref: GARD:1320 {source="MONDO:GARD"} xref: GTR:AN0102272 xref: ICD10CM:Q93.2 {source="Orphanet:1437", source="Orphanet:1437/attributed", source="Orphanet:1437/ntbt"} @@ -355880,8 +355949,8 @@ subset: rare synonym: "chromosome 10 ring" RELATED [GARD:0001322] synonym: "r10" RELATED [GARD:0001322] synonym: "Ring 10" RELATED [GARD:0001322] -synonym: "Ring chromosome 10 syndrome" RELATED [Orphanet:1438] -synonym: "Ring chromosome type 10" EXACT [MONDORULE:2, Orphanet:1438] +synonym: "Ring chromosome 10 syndrome" RELATED [] +synonym: "Ring chromosome type 10" EXACT [MONDORULE:2] xref: GARD:1322 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:1438/attributed", source="Orphanet:1438/ntbt", source="Orphanet:1438"} xref: MEDGEN:539252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -355910,8 +355979,8 @@ subset: rare synonym: "chromosome 12 ring" RELATED [GARD:0001325] synonym: "R12" RELATED ABBREVIATION [GARD:0001325] synonym: "Ring 12" RELATED [GARD:0001325] -synonym: "Ring chromosome 12 syndrome" RELATED [Orphanet:1439] -synonym: "Ring chromosome type 12" EXACT [MONDORULE:2, Orphanet:1439] +synonym: "Ring chromosome 12 syndrome" RELATED [] +synonym: "Ring chromosome type 12" EXACT [MONDORULE:2] xref: GARD:1325 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:1439", source="Orphanet:1439/attributed", source="Orphanet:1439/ntbt"} xref: MEDGEN:162879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -355935,8 +356004,8 @@ subset: rare synonym: "chromosome 17 ring" RELATED [GARD:0004724] synonym: "R17" RELATED ABBREVIATION [GARD:0004724] synonym: "Ring 17" RELATED [GARD:0004724] -synonym: "Ring chromosome 17 syndrome" RELATED [Orphanet:1441] -synonym: "Ring chromosome type 17" EXACT [MONDORULE:2, Orphanet:1441] +synonym: "Ring chromosome 17 syndrome" RELATED [] +synonym: "Ring chromosome type 17" EXACT [MONDORULE:2] xref: GARD:4724 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:1441/attributed", source="Orphanet:1441/ntbt", source="Orphanet:1441"} xref: MEDGEN:419477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -355961,8 +356030,8 @@ synonym: "Chromosome 18 Ring" EXACT [NORD:943] synonym: "chromosome 18 ring" RELATED [GARD:0006077] synonym: "R18" RELATED ABBREVIATION [GARD:0006077] synonym: "Ring 18" RELATED [GARD:0006077] -synonym: "Ring chromosome 18 syndrome" RELATED [Orphanet:1442] -synonym: "Ring chromosome type 18" EXACT [MONDORULE:2, Orphanet:1442] +synonym: "Ring chromosome 18 syndrome" RELATED [] +synonym: "Ring chromosome type 18" EXACT [MONDORULE:2] xref: GARD:6077 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:1442", source="Orphanet:1442/attributed", source="Orphanet:1442/ntbt"} xref: MEDGEN:539285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -355988,8 +356057,8 @@ subset: rare synonym: "chromosome 19 ring" RELATED [GARD:0001333] synonym: "R19" RELATED ABBREVIATION [GARD:0001333] synonym: "Ring 19" RELATED [GARD:0001333] -synonym: "Ring chromosome 19 syndrome" RELATED [Orphanet:1443] -synonym: "Ring chromosome type 19" EXACT [MONDORULE:2, Orphanet:1443] +synonym: "Ring chromosome 19 syndrome" RELATED [] +synonym: "Ring chromosome type 19" EXACT [MONDORULE:2] xref: GARD:1333 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:1443/attributed", source="Orphanet:1443/ntbt", source="Orphanet:1443"} xref: MEDGEN:419501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -356015,8 +356084,8 @@ subset: rare synonym: "chromosome 20 ring" RELATED [GARD:0001334] synonym: "R20" RELATED ABBREVIATION [GARD:0001334] synonym: "ring 20" RELATED [GARD:0001334] -synonym: "ring chromosome 20 syndrome" EXACT [GARD:0001334, PMID:37498137] -synonym: "ring chromosome type 20" EXACT [MONDORULE:2, Orphanet:1444] +synonym: "ring chromosome 20 syndrome" EXACT [GARD:0001334, NCIT:C169001, Orphanet:1444, PMID:37498137] +synonym: "ring chromosome type 20" EXACT [MONDORULE:2] xref: GARD:1334 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:1444/attributed", source="Orphanet:1444/ntbt", source="Orphanet:1444"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -356044,13 +356113,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:1445"} subset: orphanet_rare {source="Orphanet:1445"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chromosome 21 en anneau" EXACT [Orphanet:1445] +synonym: "chromosome 21 en anneau" EXACT [] synonym: "Chromosome 21 Ring" EXACT [NORD:947] synonym: "chromosome 21 ring" RELATED [GARD:0006083] synonym: "R21" RELATED ABBREVIATION [GARD:0006083] synonym: "Ring 21" RELATED [GARD:0006083] -synonym: "Ring chromosome 21 syndrome" RELATED [Orphanet:1445] -synonym: "Ring chromosome type 21" EXACT [MONDORULE:2, Orphanet:1445] +synonym: "Ring chromosome 21 syndrome" RELATED [] +synonym: "Ring chromosome type 21" EXACT [MONDORULE:2] xref: GARD:6083 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:1445", source="Orphanet:1445/attributed", source="Orphanet:1445/ntbt"} xref: MEDGEN:419409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -356079,8 +356148,8 @@ synonym: "chromosome 22 ring" RELATED [GARD:0001336] synonym: "r(22) syndrome" EXACT [Orphanet:1446] synonym: "R22" RELATED ABBREVIATION [GARD:0001336] synonym: "Ring 22" RELATED [GARD:0001336] -synonym: "Ring chromosome 22 syndrome" RELATED [Orphanet:1446] -synonym: "Ring chromosome type 22" EXACT [MONDORULE:2, Orphanet:1446] +synonym: "Ring chromosome 22 syndrome" RELATED [] +synonym: "Ring chromosome type 22" EXACT [MONDORULE:2] xref: GARD:1336 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:1446", source="Orphanet:1446/attributed", source="Orphanet:1446/ntbt"} xref: MEDGEN:539299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -356108,8 +356177,8 @@ synonym: "chromosome 4 ring" RELATED [GARD:0001339] synonym: "r(4) syndrome" EXACT [Orphanet:1447] synonym: "R4" RELATED ABBREVIATION [GARD:0001339] synonym: "Ring 4" RELATED [GARD:0001339] -synonym: "Ring chromosome 4 syndrome" RELATED [Orphanet:1447] -synonym: "Ring chromosome type 4" EXACT [MONDORULE:1, Orphanet:1447] +synonym: "Ring chromosome 4 syndrome" RELATED [] +synonym: "Ring chromosome type 4" EXACT [MONDORULE:1] synonym: "rose cluster 4" EXACT [NCIT:C121983] synonym: "syndrome r(4)" EXACT [Orphanet:1447] xref: GARD:1339 {source="MONDO:GARD"} @@ -356140,8 +356209,8 @@ synonym: "Chromosome 6 Ring" EXACT [NORD:958] synonym: "chromosome 6 ring" RELATED [GARD:0006095] synonym: "R6" RELATED ABBREVIATION [GARD:0006095] synonym: "Ring 6" RELATED [GARD:0006095] -synonym: "Ring chromosome 6 syndrome" RELATED [Orphanet:1448] -synonym: "Ring chromosome type 6" EXACT [MONDORULE:1, Orphanet:1448] +synonym: "Ring chromosome 6 syndrome" RELATED [] +synonym: "Ring chromosome type 6" EXACT [MONDORULE:1] synonym: "rose cluster 6" EXACT [NCIT:C121985] xref: GARD:6095 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:1448", source="Orphanet:1448/attributed", source="Orphanet:1448/ntbt"} @@ -356170,8 +356239,8 @@ subset: rare synonym: "chromosome 7 ring" RELATED [GARD:0001345] synonym: "R7" RELATED ABBREVIATION [GARD:0001345] synonym: "Ring 7" RELATED [GARD:0001345] -synonym: "Ring chromosome 7 syndrome" RELATED [Orphanet:1449] -synonym: "Ring chromosome type 7" EXACT [MONDORULE:1, Orphanet:1449] +synonym: "Ring chromosome 7 syndrome" RELATED [] +synonym: "Ring chromosome type 7" EXACT [MONDORULE:1] synonym: "rose cluster 7" EXACT [NCIT:C121986] xref: GARD:1345 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:1449/attributed", source="Orphanet:1449/ntbt", source="Orphanet:1449"} @@ -356207,9 +356276,9 @@ synonym: "r(8) syndrome" EXACT [Orphanet:1450] synonym: "R8" RELATED ABBREVIATION [GARD:0001347] synonym: "Ring 8" EXACT [GTR:AN0101480, Orphanet:1450] synonym: "ring chromosome 8" EXACT [Orphanet:1450] -synonym: "Ring chromosome 8 syndrome" RELATED [Orphanet:1450] +synonym: "Ring chromosome 8 syndrome" RELATED [] synonym: "rose cluster 8" EXACT [NCIT:C121988] -synonym: "supernumerary ring/marker 8" EXACT [Orphanet:1450] +synonym: "supernumerary ring/marker 8" EXACT [] xref: GARD:1347 {source="MONDO:GARD"} xref: GTR:AN0101479 xref: GTR:AN0101480 @@ -356283,9 +356352,9 @@ subset: orphanet_rare {source="Orphanet:146"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "differentiated thyroid cancer" EXACT [NCIT:C7153] -synonym: "differentiated thyroid carcinoma" EXACT [NCIT:C7153] +synonym: "differentiated thyroid carcinoma" EXACT [NCIT:C7153, Orphanet:146] synonym: "differentiated thyroid gland cancer" EXACT [NCIT:C7153] -synonym: "differentiated thyroid gland carcinoma" EXACT [NCIT:C7153] +synonym: "differentiated thyroid gland carcinoma" EXACT [DOID:0080525, NCIT:C7153] synonym: "papillary or follicular thyroid carcinoma" EXACT [Orphanet:146] synonym: "thyroid gland differentiated carcinoma" EXACT [NCIT:C7153] synonym: "thyroid gland well differentiated carcinoma" EXACT [NCIT:C7153] @@ -356314,7 +356383,7 @@ subset: orphanet_rare {source="Orphanet:1460"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "isolated coenzyme Q-cytochrome C reductase deficiency" EXACT [Orphanet:1460] -synonym: "isolated complex III deficiency" RELATED [Orphanet:1460] +synonym: "isolated complex III deficiency" RELATED [] synonym: "isolated CoQ-cytochrome C reductase deficiency" EXACT [Orphanet:1460] synonym: "isolated mitochondrial respiratory chain complex III deficiency" EXACT [Orphanet:1460] synonym: "isolated ubiquinone-cytochrome C reductase deficiency" EXACT [Orphanet:1460] @@ -356361,8 +356430,8 @@ subset: gard_rare {source="GARD:6194", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1007"} subset: ordo_group_of_disorders {source="Orphanet:1463"} subset: rare -synonym: "Cor Triatriatum" EXACT [NORD:1007] -synonym: "Cor triatriatum" EXACT [Orphanet:1463] +synonym: "Cor Triatriatum" EXACT [NCIT:C84651, NORD:1007, Orphanet:1463] +synonym: "Cor triatriatum" EXACT [NCIT:C84651, Orphanet:1463] xref: GARD:6194 {source="MONDO:GARD"} xref: ICD10CM:Q24.2 {source="Orphanet:1463", source="Orphanet:1463/e"} xref: ICD9:746.82 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -356390,7 +356459,7 @@ subset: ordo_disorder {source="Orphanet:1464"} subset: ordo_morphological_anomaly {source="Orphanet:1464"} subset: orphanet_rare {source="Orphanet:1464"} subset: rare -synonym: "Double inlet left ventricle" EXACT [Orphanet:1464] +synonym: "Double inlet left ventricle" EXACT [] xref: GARD:18725 {source="MONDO:GARD"} xref: ICD10CM:Q20.4 {source="Orphanet:1464", source="Orphanet:1464/e"} xref: icd11.foundation:1786413029 {source="Orphanet:1464", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -356417,7 +356486,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1465"} subset: orphanet_rare {source="Orphanet:1465"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Coffin-Siris syndrome" EXACT CLINGEN_LABEL [] +synonym: "Coffin-Siris syndrome" EXACT CLINGEN_LABEL [DOID:1925, icd11.foundation:734451870, NCIT:C35321, OMIMPS:135900, Orphanet:1465] synonym: "CSS" EXACT ABBREVIATION [Orphanet:1465] synonym: "dwarfism-onychodysplasia" EXACT [DOID:1925] synonym: "fifth digit syndrome" EXACT [DOID:1925] @@ -356460,9 +356529,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:1467"} subset: orphanet_rare {source="Orphanet:1467"} subset: rare -synonym: "Cogan syndrome" EXACT [GARD:0001421] -synonym: "Cogan's syndrome" EXACT [DOID:0060216, ICD10CM:H16.32] -synonym: "diffuse interstitual keratitis" EXACT [DOID:0060216, ICD10CM:H16.32] +synonym: "Cogan syndrome" EXACT [DOID:0060216, GARD:0001421, icd11.foundation:2098089327, Orphanet:1467] +synonym: "Cogan's syndrome" EXACT [DOID:0060216] +synonym: "diffuse interstitual keratitis" EXACT [DOID:0060216] xref: DOID:0060216 {source="MONDO:equivalentTo"} xref: GARD:1421 {source="MONDO:GARD"} xref: ICD10CM:H16.3 {source="Orphanet:1467", source="Orphanet:1467/ntbt"} @@ -356492,7 +356561,7 @@ subset: ordo_group_of_disorders {source="Orphanet:148"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MCD" EXACT ABBREVIATION [Orphanet:148] -synonym: "multiple carboxylase deficiency" EXACT [MONDO:0004610] +synonym: "multiple carboxylase deficiency" EXACT [DOID:857, icd11.foundation:1133091451, MONDO:0004610, Orphanet:148] xref: DOID:857 {source="MONDO:equivalentTo"} xref: GARD:3824 {source="MONDO:GARD"} xref: ICD10CM:D81.81 {source="DOID:857"} @@ -356557,7 +356626,7 @@ name: corpus callosum agenesis-double urinary collecting system syndrome subset: ordo_malformation_syndrome {source="Orphanet:1492"} synonym: "agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies" RELATED [GARD:0000852] synonym: "Ben Ari Shuper Mimouni syndrome" RELATED [GARD:0000852] -synonym: "Ben Ari-Shuper-Mimouni syndrome" EXACT [GARD:0001536, Orphanet:1492] +synonym: "Ben Ari-Shuper-Mimouni syndrome" EXACT [GARD:0001536] synonym: "corpus callosum agenesis - double urinary collecting system" RELATED [GARD:0001536] synonym: "corpus callosum agenesis double urinary collecting" RELATED [GARD:0001536] synonym: "corpus callosum agenesis-double urinary collecting system syndrome" EXACT [GARD:0001536] @@ -356601,35 +356670,35 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:150"} subset: orphanet_rare {source="Orphanet:150"} subset: rare -synonym: "cancer of nasopharynx" BROAD [NCIT:C3871] -synonym: "cancer of the nasopharynx" BROAD [NCIT:C3871] -synonym: "carcinoma of nasopharynx" EXACT [DOID:9261, MONDO:patterns/carcinoma, NCIT:C3871] +synonym: "cancer of nasopharynx" BROAD [] +synonym: "cancer of the nasopharynx" BROAD [] +synonym: "carcinoma of nasopharynx" EXACT [MONDO:patterns/carcinoma, NCIT:C3871] synonym: "carcinoma of the nasopharynx" EXACT [NCIT:C3871] -synonym: "malignant nasopharyngeal tumor" BROAD [DOID:9261, NCIT:C9321] +synonym: "malignant nasopharyngeal tumor" BROAD [] synonym: "malignant nasopharyngeal tumour" BROAD OMO:0003005 [] -synonym: "malignant neoplasm of anterior wall of nasopharynx" BROAD [DOID:9261] -synonym: "malignant neoplasm of lateral wall of nasopharynx" BROAD [DOID:9261] -synonym: "malignant neoplasm of nasopharyngeal wall" BROAD [DOID:9261] -synonym: "malignant neoplasm of nasopharyngeal wall NOS" BROAD EXCLUDE [DOID:9261] -synonym: "malignant neoplasm of nasopharynx" BROAD [DOID:9261, ICD9CM:147, MTH:NOCODE] -synonym: "malignant neoplasm of nasopharynx (disorder) [ambiguous]" BROAD [DOID:9261] -synonym: "malignant neoplasm of other specified sites of nasopharynx" BROAD [DOID:9261] -synonym: "malignant neoplasm of posterior wall of nasopharynx" BROAD [DOID:9261] -synonym: "malignant neoplasm of roof of nasopharynx" BROAD [DOID:9261] -synonym: "malignant neoplasm of superior wall of nasopharynx" BROAD [DOID:9261] -synonym: "malignant tumor of anterior wall of nasopharynx" BROAD [DOID:9261, MTH:U001027] -synonym: "malignant tumor of lateral wall of nasopharynx" BROAD [DOID:9261, MTH:U003238] -synonym: "malignant tumor of posterior wall of nasopharynx" BROAD [DOID:9261, MTH:U001026] +synonym: "malignant neoplasm of anterior wall of nasopharynx" BROAD [] +synonym: "malignant neoplasm of lateral wall of nasopharynx" BROAD [] +synonym: "malignant neoplasm of nasopharyngeal wall" BROAD [] +synonym: "malignant neoplasm of nasopharyngeal wall NOS" BROAD EXCLUDE [] +synonym: "malignant neoplasm of nasopharynx" BROAD [ICD9CM:147, MTH:NOCODE] +synonym: "malignant neoplasm of nasopharynx (disorder) [ambiguous]" BROAD [] +synonym: "malignant neoplasm of other specified sites of nasopharynx" BROAD [] +synonym: "malignant neoplasm of posterior wall of nasopharynx" BROAD [] +synonym: "malignant neoplasm of roof of nasopharynx" BROAD [] +synonym: "malignant neoplasm of superior wall of nasopharynx" BROAD [] +synonym: "malignant tumor of anterior wall of nasopharynx" BROAD [MTH:U001027] +synonym: "malignant tumor of lateral wall of nasopharynx" BROAD [MTH:U003238] +synonym: "malignant tumor of posterior wall of nasopharynx" BROAD [MTH:U001026] synonym: "malignant tumour of anterior wall of nasopharynx" BROAD OMO:0003005 [] synonym: "malignant tumour of lateral wall of nasopharynx" BROAD OMO:0003005 [] synonym: "malignant tumour of posterior wall of nasopharynx" BROAD OMO:0003005 [] -synonym: "nasopharyngeal cancer" BROAD [NCIT:C3871] -synonym: "nasopharyngeal carcinoma" EXACT [DOID:9261, NCIT:C3871] -synonym: "nasopharyngeal throat cancer" BROAD [NCIT:C3871] -synonym: "nasopharynx cancer" BROAD EXCLUDE [DOID:9261] -synonym: "nasopharynx carcinoma" EXACT [MONDO:patterns/location] +synonym: "nasopharyngeal cancer" BROAD [] +synonym: "nasopharyngeal carcinoma" EXACT [DOID:9261, icd11.foundation:1883313543, NCIT:C3871, Orphanet:150] +synonym: "nasopharyngeal throat cancer" BROAD [] +synonym: "nasopharynx cancer" BROAD EXCLUDE [] +synonym: "nasopharynx carcinoma" EXACT [DOID:9261, MONDO:patterns/location] synonym: "NPC" EXACT ABBREVIATION [NCIT:C3871] -synonym: "primary malignant neoplasm of anterior wall of nasopharynx" BROAD [DOID:9261] +synonym: "primary malignant neoplasm of anterior wall of nasopharynx" BROAD [] synonym: "squamous cell carcinoma of the nasopharynx" EXACT [Orphanet:150] xref: DOID:9261 {source="MONDO:equivalentTo"} xref: GARD:7163 {source="MONDO:GARD"} @@ -356751,7 +356820,7 @@ synonym: "craniodigital syndrome with intellectual disability" RELATED [GARD:000 synonym: "craniodigital syndrome with mental retardation" RELATED DEPRECATED [GARD:0004776, MESH:C537528] synonym: "craniodigital syndrome-intellectual disability, Scott type" RELATED [GARD:0004776, MESH:C537528] synonym: "craniodigital syndrome-mental retardation, Scott type" RELATED DEPRECATED [GARD:0004776, MESH:C537528] -synonym: "craniodigital-intellectual disability syndrome" RELATED [Orphanet:1514] +synonym: "craniodigital-intellectual disability syndrome" RELATED [] synonym: "Scott Bryant Graham syndrome" RELATED [GARD:0004776] synonym: "Scott craniodigital syndrome" EXACT [Orphanet:1514] synonym: "Scott craniodigital syndrome with intellectual disability" RELATED [GARD:0004776, MESH:C537528] @@ -356895,7 +356964,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "craniosynostosis syndrome" EXACT [NCIT:C84655] synonym: "CSO" RELATED ABBREVIATION [GARD:0006209] -synonym: "premature closure of cranial sutures" EXACT [DOID:2340] +synonym: "premature closure of cranial sutures" EXACT [DOID:2340, icd11.foundation:458033798] xref: DOID:2340 {source="MONDO:equivalentTo"} xref: GARD:6209 {source="MONDO:GARD"} xref: ICD10CM:Q75.0 {source="DOID:2340", source="Orphanet:1531", source="MONDO:equivalentTo", source="Orphanet:1531/specific", source="Orphanet:1531/e"} @@ -356925,7 +356994,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: ordo_disorder {source="Orphanet:154"} subset: otar {source="MONDO:OTAR"} synonym: "familial isolated dilated cardiomyopathy" EXACT CLINGEN_LABEL [] -synonym: "familial or idiopathic dilated cardiomyopathy" EXACT [Orphanet:154] +synonym: "familial or idiopathic dilated cardiomyopathy" EXACT [] xref: ICD10CM:I42.0 {source="Orphanet:154/attributed", source="Orphanet:154/ntbt", source="Orphanet:154"} xref: Orphanet:154 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0015470 {source="MONDO:CLINGEN"} @@ -356996,7 +357065,7 @@ synonym: "Cryptosporidium disease or disorder" EXACT [] synonym: "Cryptosporidium infection" EXACT [NCIT:C128408] synonym: "Cryptosporidium infectious disease" EXACT [] synonym: "infection by Cryptosporidium" EXACT [DOID:1733] -synonym: "intestinal cryptosporidiosis" EXACT [DOID:1733, ICD9CM:007.4] +synonym: "intestinal cryptosporidiosis" EXACT [DOID:1733, icd11.foundation:1837013982, ICD9CM:007.4] xref: DOID:1733 {source="MONDO:equivalentTo"} xref: ICD10CM:A07.2 {source="Orphanet:1549/e", source="MONDO:equivalentTo", source="DOID:1733", source="Orphanet:1549"} xref: icd11.foundation:1837013982 {source="MONDO:equivalentTo"} @@ -357068,7 +357137,7 @@ is_a: MONDO:0015476 {source="Orphanet:155838"} ! cysts and fistulae of the face id: MONDO:0015478 name: obsolete paramedian facial cleft subset: ordo_group_of_disorders {source="Orphanet:155867"} -synonym: "Tessier number 1-1 and 2-12 facial cleft" EXACT [Orphanet:155867] +synonym: "Tessier number 1-1 and 2-12 facial cleft" EXACT [] xref: ICD10CM:Q18.8 {source="Orphanet:155867/ntbt", source="Orphanet:155867"} xref: Orphanet:155867 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -357185,11 +357254,11 @@ subset: orphanet_rare {source="Orphanet:1560"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "intestinal taenia solium infection" EXACT [DOID:10079] -synonym: "neurocysticercosis" RELATED [DOID:10079] +synonym: "neurocysticercosis" RELATED [] synonym: "pork tapeworm infection" EXACT [DOID:10079] -synonym: "tapeworm infection: [intestinal taenia solium] or [pork]" EXACT [DOID:10079] -synonym: "tapeworm infection: intestinal taenia solum" EXACT [DOID:10079] -synonym: "tapeworm infection: pork" EXACT [DOID:10079] +synonym: "tapeworm infection: [intestinal taenia solium] or [pork]" EXACT [] +synonym: "tapeworm infection: intestinal taenia solum" EXACT [] +synonym: "tapeworm infection: pork" EXACT [] synonym: "tenia solium infectious disease" EXACT [DOID:10079] xref: DOID:10079 {source="MONDO:equivalentTo", source="EFO:0007231"} xref: EFO:0007231 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -357219,7 +357288,7 @@ relationship: disease_has_infectious_agent NCBITaxon:6202 ! Taenia id: MONDO:0015485 name: obsolete primary hereditary glaucoma subset: ordo_group_of_disorders {source="Orphanet:156005"} -synonym: "primary glaucoma" RELATED [Orphanet:156005] +synonym: "primary glaucoma" RELATED [] xref: Orphanet:156005 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -357236,9 +357305,9 @@ subset: gard_rare {source="GARD:6824", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "conical cornea" EXACT [DOID:10126] -synonym: "isolated keratoconus" NARROW [Orphanet:2335] +synonym: "isolated keratoconus" NARROW [] synonym: "KC" RELATED ABBREVIATION [GARD:0006824] -synonym: "keratoconus" EXACT [MONDO:ambiguous] +synonym: "keratoconus" EXACT [DOID:10126, icd11.foundation:945228622, MONDO:ambiguous, NCIT:C26806, OMIMPS:148300] synonym: "keratoconus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "noninflammatory corneal thining" RELATED [GARD:0006824] xref: DOID:10126 {source="MONDO:equivalentTo"} @@ -357279,10 +357348,10 @@ subset: orphanet_rare {source="Orphanet:1561"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency" EXACT [DOID:0050713] -synonym: "fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency" EXACT [Orphanet:1561] -synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT [DOID:0050713] +synonym: "fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency" EXACT [DOID:0050713, Orphanet:1561] +synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT [DOID:0050713, Orphanet:1561] synonym: "fatal infantile COX deficiency" EXACT [DOID:0050713, Orphanet:1561] -synonym: "fatal infantile cytochrome C oxidase deficiency" RELATED [Orphanet:1561] +synonym: "fatal infantile cytochrome C oxidase deficiency" RELATED [] synonym: "fatal infantile encephalomyopathy" RELATED [GARD:0001113] xref: DOID:0050713 {source="MONDO:equivalentTo"} xref: GARD:16569 {source="MONDO:GARD"} @@ -357356,7 +357425,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AAV" EXACT ABBREVIATION [Orphanet:156152] synonym: "ANCA-associated vasculitis" EXACT [Orphanet:156152] -synonym: "antineutrophil cytoplasmic antibody-associated vasculitis" EXACT [Orphanet:156152] +synonym: "antineutrophil cytoplasmic antibody-associated vasculitis" EXACT [icd11.foundation:1404622826, Orphanet:156152] xref: GARD:13011 {source="MONDO:GARD"} xref: icd11.foundation:1404622826 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:156152"} xref: MEDGEN:403453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -357587,7 +357656,7 @@ replaced_by: MONDO:0005154 id: MONDO:0015508 name: obsolete hereditary parenchymatous liver disease subset: ordo_group_of_disorders {source="Orphanet:156604"} -synonym: "genetic parenchymatous liver disease" EXACT [Orphanet:156604] +synonym: "genetic parenchymatous liver disease" EXACT [] xref: Orphanet:156604 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -357688,9 +357757,9 @@ subset: rare synonym: "Carnitine palmitoyltransferase 2 deficiency" RELATED [GARD:0001121] synonym: "Carnitine palmitoyltransferase deficiency type 2" EXACT [Orphanet:157] synonym: "Carnitine palmitoyltransferase II (CPT II) deficiency" RELATED [GARD:0001121] -synonym: "carnitine palmitoyltransferase II deficiency" EXACT CLINGEN_LABEL [] +synonym: "carnitine palmitoyltransferase II deficiency" EXACT CLINGEN_LABEL [DOID:0060235, icd11.foundation:204058632, NCIT:C114766, Orphanet:157] synonym: "CPT II deficiency" EXACT [NCIT:C114766] -synonym: "CPT-II" EXACT [DOID:0060235] +synonym: "CPT-II" EXACT ABBREVIATION [DOID:0060235] synonym: "CPT2" EXACT ABBREVIATION [Orphanet:157] synonym: "CPTII" EXACT ABBREVIATION [Orphanet:157] synonym: "infantile carnitine palmitoyltransferase II deficiency" EXACT [DOID:0060235] @@ -357753,8 +357822,8 @@ subset: ordo_disorder {source="Orphanet:1572"} subset: orphanet_rare {source="Orphanet:1572"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired agammaglobulinemia" RELATED [DOID:12177, NCIT:C26725] -synonym: "acquired hypogammaglobulinemia" RELATED [DOID:12177] +synonym: "acquired agammaglobulinemia" RELATED [] +synonym: "acquired hypogammaglobulinemia" RELATED [] synonym: "common variable agammaglobulinemia" EXACT [DOID:12177] synonym: "common variable hypogamma-globulinemia" RELATED [GARD:0006140] synonym: "Common Variable Immune Deficiency" EXACT [NORD:990] @@ -357807,7 +357876,7 @@ subset: ordo_group_of_disorders {source="Orphanet:1576"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "IBSN" EXACT ABBREVIATION [GARD:0005040, Orphanet:1576] -synonym: "infantile bilateral striatal necrosis" EXACT [GARD:0005040] +synonym: "infantile bilateral striatal necrosis" EXACT [GARD:0005040, icd11.foundation:1947032348, Orphanet:1576] synonym: "infantile striatonigral degeneration" EXACT [Orphanet:1576] synonym: "infantile striatonigral necrosis" EXACT [Orphanet:1576] synonym: "SNDI" RELATED ABBREVIATION [GARD:0005040] @@ -357897,8 +357966,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "epithelioid angioendothelioma" EXACT [NCIT:C3800] synonym: "epithelioid angiosarcoma" EXACT [NCIT:C3800] -synonym: "epithelioid hemangioendothelioma" EXACT [NCIT:C3800] -synonym: "malignant epithelioid hemangioendothelioma" EXACT [MONDO:0000899] +synonym: "epithelioid hemangioendothelioma" EXACT [NCIT:C3800, Orphanet:157791] +synonym: "malignant epithelioid hemangioendothelioma" EXACT [DOID:0080190, MONDO:0000899] xref: DOID:0080190 {source="MONDO:equivalentTo"} xref: GARD:20014 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:157791/attributed", source="Orphanet:157791/ntbt", source="Orphanet:157791"} @@ -357928,7 +357997,7 @@ subset: ordo_disorder {source="Orphanet:157798"} subset: orphanet_rare {source="Orphanet:157798"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "serrated polyposis" EXACT [Orphanet:157798] +synonym: "serrated polyposis" EXACT [] xref: GARD:16982 {source="MONDO:GARD"} xref: ICD10CM:D12.6 {source="Orphanet:157798/attributed", source="Orphanet:157798/ntbt", source="Orphanet:157798"} xref: icd11.foundation:1344352020 {source="MONDO:equivalentTo"} @@ -357952,7 +358021,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:157808"} subset: orphanet_rare {source="Orphanet:157808"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital pseudarthrosis of the limbs" EXACT [Orphanet:157808] +synonym: "congenital pseudarthrosis of the limbs" EXACT [] synonym: "congenital pseudoarthrosis" RELATED [GARD:0009722] xref: GARD:20015 {source="MONDO:GARD"} xref: MEDGEN:1680202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -357978,7 +358047,7 @@ subset: orphanet_rare {source="Orphanet:157820"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CISS" EXACT ABBREVIATION [Orphanet:157820] -synonym: "Crisponi syndrome" RELATED EXCLUDE [DOID:0060294] +synonym: "Crisponi syndrome" RELATED EXCLUDE [] synonym: "Sohar-Crisponi syndrome" EXACT [DOID:0060294] xref: DOID:0060294 {source="MONDO:equivalentTo"} xref: GARD:16983 {source="MONDO:GARD"} @@ -358005,12 +358074,12 @@ subset: ordo_disorder {source="Orphanet:157826"} subset: orphanet_rare {source="Orphanet:157826"} subset: rare synonym: "congenital Epulides" EXACT [DOID:7280] -synonym: "congenital epulis" EXACT [DOID:7280, NCIT:C4675] +synonym: "congenital epulis" EXACT [DOID:7280, icd11.foundation:1616915738, NCIT:C4675, Orphanet:157826] synonym: "congenital gingival cell tumor" EXACT [Orphanet:157826] synonym: "congenital gingival cell tumour" EXACT OMO:0003005 [] -synonym: "congenital granular cell tumor" EXACT [MONDO:patterns/congenital, NCIT:C4675, Orphanet:157826] +synonym: "congenital granular cell tumor" EXACT [DOID:8303, MONDO:patterns/congenital, NCIT:C4675, Orphanet:157826] synonym: "congenital granular cell tumour" EXACT OMO:0003005 [] -synonym: "gingival granular cell tumor" RELATED [NCIT:C4675] +synonym: "gingival granular cell tumor" RELATED [] synonym: "gingival granular cell tumour" RELATED OMO:0003005 [] synonym: "Neumann tumor" EXACT [Orphanet:157826] synonym: "Neumann tumour" EXACT OMO:0003005 [] @@ -358094,7 +358163,7 @@ subset: ordo_group_of_disorders {source="Orphanet:157987"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "histiocytosis, non-Langerhans-cell" RELATED [GARD:0008231] -synonym: "non-Langerhans-cell histiocytosis" EXACT [MONDO:0002964] +synonym: "non-Langerhans-cell histiocytosis" EXACT [DOID:4330, MONDO:0002964] xref: DOID:4330 {source="MONDO:equivalentTo"} xref: GARD:8231 {source="MONDO:GARD"} xref: ICD10CM:D76.3 {source="Orphanet:157987", source="Orphanet:157987/ntbt"} @@ -358154,8 +358223,8 @@ subset: ordo_disorder {source="Orphanet:158000"} subset: orphanet_rare {source="Orphanet:158000"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "juvenile xanthogranuloma" EXACT [MONDO:0006259] -synonym: "JXG" EXACT ABBREVIATION [NCIT:C3451] +synonym: "juvenile xanthogranuloma" EXACT [DOID:4424, icd11.foundation:98595592, MONDO:0006259, NCIT:C3451, Orphanet:158000] +synonym: "JXG" EXACT ABBREVIATION [NCIT:C3451, Orphanet:158000] synonym: "multiple eruptive juvenile xanthogranuloma" EXACT [DOID:4424] synonym: "Naevoxanthoendothelioma" EXACT [DOID:4424] synonym: "xanthoma neviforme" EXACT [DOID:4424] @@ -358248,9 +358317,9 @@ subset: ordo_disorder {source="Orphanet:158019"} subset: orphanet_rare {source="Orphanet:158019"} subset: rare synonym: "IDCT" RELATED ABBREVIATION [ONCOTREE:IDCT] -synonym: "indeterminate cell histiocytosis" EXACT [NCIT:C81767] -synonym: "indeterminate Dendritic cell tumor" EXACT [NCIT:C81767] -synonym: "indeterminate dendritic cell tumor" EXACT [Orphanet:158019] +synonym: "indeterminate cell histiocytosis" EXACT [NCIT:C81767, Orphanet:158019] +synonym: "indeterminate Dendritic cell tumor" EXACT [NCIT:C81767, Orphanet:158019] +synonym: "indeterminate dendritic cell tumor" EXACT [NCIT:C81767, Orphanet:158019] synonym: "indeterminate Dendritic cell tumour" EXACT OMO:0003005 [] xref: GARD:20022 {source="MONDO:GARD"} xref: ICD10CM:D76.3 {source="Orphanet:158019", source="Orphanet:158019/ntbt"} @@ -358296,13 +358365,13 @@ synonym: "familial erythrophagocytic lymphohistiocytosis" RELATED [GARD:0006589] synonym: "familial hemophagocytic lymphohistiocytosis" RELATED [GARD:0006589] synonym: "familial histiocytic reticulosis" RELATED [GARD:0006589] synonym: "FHL" RELATED ABBREVIATION [GARD:0006589] -synonym: "haemophagocytic syndrome" RELATED [DOID:0050120] -synonym: "hemophagocytic disorder" RELATED [NCIT:C34792] -synonym: "Hemophagocytic Lymphohistiocytosis" EXACT [NORD:1938] -synonym: "hemophagocytic lymphohistiocytosis" EXACT [MONDO:0000247, NCIT:C34792, Orphanet:158032] -synonym: "hemophagocytic syndrome" EXACT [MONDO:0021051, NCIT:C35439] +synonym: "haemophagocytic syndrome" RELATED [] +synonym: "hemophagocytic disorder" RELATED [] +synonym: "Hemophagocytic Lymphohistiocytosis" EXACT [DOID:0050120, NCIT:C34792, NORD:1938, Orphanet:158032] +synonym: "hemophagocytic lymphohistiocytosis" EXACT [DOID:0050120, MONDO:0000247, NCIT:C34792, Orphanet:158032] +synonym: "hemophagocytic syndrome" EXACT [MONDO:0021051, Orphanet:158032] synonym: "HLH" EXACT ABBREVIATION [GARD:0006589, Orphanet:158032] -synonym: "HPS" RELATED EXCLUDE [DOID:0050120] +synonym: "HPS" RELATED EXCLUDE [] xref: DOID:0050120 {source="MONDO:equivalentTo"} xref: GARD:20024 {source="MONDO:GARD"} xref: ICD10CM:D76.1 {source="DOID:0050120"} @@ -358339,10 +358408,10 @@ subset: ordo_disorder {source="Orphanet:540"} subset: orphanet_rare {source="Orphanet:540"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial hemophagocytic lymphohistiocytosis" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "genetic hemophagocytic lymphohistiocytosis" EXACT [Orphanet:158038] +synonym: "familial hemophagocytic lymphohistiocytosis" EXACT [https://orcid.org/0000-0002-6601-2165, Orphanet:540] +synonym: "genetic hemophagocytic lymphohistiocytosis" EXACT [] synonym: "genetic hemophagocytic syndrome" EXACT [MONDO:patterns/genetic] -synonym: "primary hemophagocytic lymphohistiocytosis" EXACT [Orphanet:158038] +synonym: "primary hemophagocytic lymphohistiocytosis" EXACT [] xref: GARD:6589 {source="MONDO:GARD"} xref: ICD9:238.79 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10070904 {source="Orphanet:158038", source="Orphanet:158038/e"} @@ -358441,7 +358510,7 @@ subset: orphanet_rare {source="Orphanet:1581"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "non-distal deletion 10q" EXACT [Orphanet:1581] -synonym: "non-distal monosomy type 10q" EXACT [MONDORULE:4, Orphanet:1581] +synonym: "non-distal monosomy type 10q" EXACT [MONDORULE:4] synonym: "non-telomeric monosomy 10q" EXACT [Orphanet:1581] xref: GARD:18729 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:1581/attributed", source="Orphanet:1581/ntbt", source="Orphanet:1581"} @@ -358545,8 +358614,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:158673"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEB, acral" EXACT [Orphanet:158673] -synonym: "DEB-ac" EXACT [Orphanet:158673] +synonym: "DEB, acral" EXACT [] +synonym: "DEB-ac" EXACT [] xref: GARD:20031 {source="MONDO:GARD"} xref: ICD10CM:Q81.2 {source="Orphanet:158673", source="Orphanet:158673/attributed", source="Orphanet:158673/ntbt"} xref: MEDGEN:1387925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -358564,10 +358633,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:158676"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEB-na" EXACT [Orphanet:158676] -synonym: "dominant dystrophic epidermolysis bullosa, nails only" RELATED [Orphanet:158676] -synonym: "nails-only DDEB" EXACT [Orphanet:158676] -synonym: "nails-only DEB" EXACT [Orphanet:158676] +synonym: "DEB-na" EXACT [] +synonym: "dominant dystrophic epidermolysis bullosa, nails only" RELATED [] +synonym: "nails-only DDEB" EXACT [] +synonym: "nails-only DEB" EXACT [] xref: GARD:20032 {source="MONDO:GARD"} xref: ICD10CM:Q81.2 {source="Orphanet:158676", source="Orphanet:158676/attributed", source="Orphanet:158676/ntbt"} xref: MEDGEN:928216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -358698,8 +358767,8 @@ synonym: "17q deletion" RELATED [GARD:0010972] synonym: "17q monosomy" RELATED [GARD:0010972] synonym: "chromosome 17q deletion" RELATED [GARD:0010972] synonym: "deletion 17q" RELATED [GARD:0010972] -synonym: "distal 17q deletion" EXACT [Orphanet:1597] -synonym: "distal monosomy type 17q" EXACT [MONDORULE:4, Orphanet:1597] +synonym: "distal 17q deletion" EXACT [] +synonym: "distal monosomy type 17q" EXACT [MONDORULE:4] synonym: "monosomy 17q" RELATED [GARD:0010972] synonym: "monosomy 17qter" EXACT [Orphanet:1597] synonym: "partial monosomy 17q" RELATED [GARD:0010972] @@ -358737,7 +358806,7 @@ synonym: "angiofollicular ganglionic hyperplasia" EXACT [Orphanet:160] synonym: "angiofollicular lymph hyperplasia" EXACT [DOID:0111157, Orphanet:160] synonym: "angiofollicular lymph node hyperplasia" EXACT [DOID:0111157, GARD:0000673] synonym: "angiofollicular lymphoid hyperplasia" EXACT [NCIT:C3056] -synonym: "Castleman disease" EXACT [NCIT:C3056] +synonym: "Castleman disease" EXACT [DOID:0111157, ICD10CM:D47.Z2, icd11.foundation:1940989685, NCIT:C3056, Orphanet:160] synonym: "Castleman's disease" EXACT [NCIT:C3056] synonym: "Castleman's tumor" EXACT [NCIT:C3056] synonym: "Castleman's tumour" EXACT OMO:0003005 [] @@ -358862,7 +358931,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0015569 name: congenital nasal pyriform aperture stenosis with holoprosencephaly subset: ordo_malformation_syndrome {source="Orphanet:162521"} -synonym: "apertura pyriformis with holoprosencephaly" EXACT [Orphanet:162521] +synonym: "apertura pyriformis with holoprosencephaly" EXACT [] xref: ICD10CM:Q30.8 {source="Orphanet:162521", source="Orphanet:162521/ntbt"} xref: MEDGEN:1747766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:162521 {source="MONDO:equivalentObsolete"} @@ -358903,7 +358972,7 @@ subset: orphanet_rare {source="Orphanet:1627"} subset: rare synonym: "Del (5)(q35)" EXACT [Orphanet:1627] synonym: "Del (5)(qter)" EXACT [Orphanet:1627] -synonym: "deletion type 5q35" EXACT [MONDORULE:7, Orphanet:1627] +synonym: "deletion type 5q35" EXACT [MONDORULE:7] synonym: "distal 5q deletion" EXACT [Orphanet:1627] synonym: "monosomy 5q35" EXACT [Orphanet:1627] synonym: "telomeric deletion 5q" EXACT [Orphanet:1627] @@ -358924,8 +358993,8 @@ id: MONDO:0015572 name: obsolete cerebral malformation due to abnormal neuronal migration comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Editor note: named as non-syndromic in ORDO, but we rename for consistency, see https://github.com/monarch-initiative/mondo-build/issues/58. subset: ordo_group_of_disorders {source="Orphanet:163209"} -synonym: "brain malformation due to abnormal neuronal migration" EXACT [Orphanet:163209] -synonym: "non-syndromic cerebral malformation due to abnormal neuronal migration" RELATED [Orphanet:163209] +synonym: "brain malformation due to abnormal neuronal migration" EXACT [] +synonym: "non-syndromic cerebral malformation due to abnormal neuronal migration" RELATED [] xref: ICD10CM:Q04.8 {source="Orphanet:163209/attributed", source="Orphanet:163209/ntbt", source="Orphanet:163209"} xref: Orphanet:163209 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -359066,7 +359135,7 @@ subset: orphanet_rare {source="Orphanet:1636"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal deletion 7q36" EXACT [Orphanet:1636] -synonym: "distal monosomy type 7q36" EXACT [MONDORULE:7, Orphanet:1636] +synonym: "distal monosomy type 7q36" EXACT [MONDORULE:7] synonym: "monosomy 7qter" EXACT [Orphanet:1636] synonym: "telomeric deletion 7q36" EXACT [Orphanet:1636] xref: GARD:18731 {source="MONDO:GARD"} @@ -359116,7 +359185,7 @@ subset: orphanet_rare {source="Orphanet:163693"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "2p21 deletion syndrome" EXACT [Orphanet:163693] -synonym: "2p21 microdeletion syndrome" EXACT [DECIPHER:87] +synonym: "2p21 microdeletion syndrome" EXACT [DECIPHER:87, Orphanet:163693] synonym: "Del(2)(p21)" EXACT [Orphanet:163693] synonym: "monosomy 2p21" EXACT [Orphanet:163693] xref: DECIPHER:87 {source="https://orcid.org/0009-0001-6494-4831", source="MONDO:equivalentTo"} @@ -359194,7 +359263,7 @@ name: obsolete benign familial mesial temporal lobe epilepsy def: "OBSOLETE. Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication." [Orphanet:163717] subset: ordo_disorder {source="Orphanet:163717"} subset: otar {source="MONDO:OTAR"} -synonym: "benign FMTLE" EXACT [Orphanet:163717] +synonym: "benign FMTLE" EXACT [] xref: Orphanet:163717 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -359246,7 +359315,7 @@ def: "A rare disorder characterized by degenerative changes in the limbic area o subset: disease_grouping subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "limbic encephalitis" BROAD [NCIT:C4350] +synonym: "limbic encephalitis" BROAD [] xref: ICD10CM:G13.1 {source="Orphanet:163895", source="Orphanet:163895/ntbt"} xref: icd11.foundation:1147819644 {source="MONDO:equivalentTo"} xref: ICD9:323.81 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -359265,7 +359334,7 @@ name: classic paraneoplastic limbic encephalitis def: "Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed." [Orphanet:163898] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "classic paraneoplastic limbic encephalitis, with or without intracellular antigens" EXACT [Orphanet:163898] +synonym: "classic paraneoplastic limbic encephalitis, with or without intracellular antigens" EXACT [] xref: ICD10CM:G13.1 {source="Orphanet:163898", source="Orphanet:163898/ntbt"} xref: Orphanet:163898 {source="MONDO:equivalentObsolete"} is_a: MONDO:0015589 {source="Orphanet:163898"} ! paraneoplastic limbic encephalitis @@ -359289,7 +359358,7 @@ name: limbic encephalitis with LGI1 antibodies def: "Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported." [Orphanet:163908] subset: gard_rare {source="GARD:13406", source="MONDO:GARD"} subset: rare -synonym: "limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies" EXACT [Orphanet:163908] +synonym: "limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies" EXACT [] xref: GARD:13406 {source="MONDO:GARD"} xref: ICD10CM:G04.8 {source="Orphanet:163908/ntbt", source="Orphanet:163908"} xref: ICD10CM:G13.1 {source="Orphanet:163908/ntbt", source="Orphanet:163908"} @@ -359303,7 +359372,7 @@ is_a: MONDO:0020068 {source="MONDO:Entailed", source="Orphanet:163908"} ! postin id: MONDO:0015593 name: obsolete limbic encephalitis with nCMAgs antibodies comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'inflammatory disease' (MONDO:0021166) ontology branch (https://orcid.org/0000-0003-4830-7530, https://orcid.org/0000-0001-9310-0163). -synonym: "limbic encephalitis with novel cell membrane antigen antibodies" EXACT [Orphanet:163914] +synonym: "limbic encephalitis with novel cell membrane antigen antibodies" EXACT [] xref: ICD10CM:G13.1 {source="Orphanet:163914", source="Orphanet:163914/ntbt"} xref: Orphanet:163914 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} @@ -359331,7 +359400,8 @@ subset: ordo_clinical_situation {source="Orphanet:163921"} subset: ordo_disorder {source="Orphanet:163921"} subset: orphanet_rare {source="Orphanet:163921"} subset: rare -synonym: "pale" EXACT [Orphanet:163921] +synonym: "PALE" EXACT ABBREVIATION [Orphanet:163921] +synonym: "pale" EXACT [] xref: GARD:20051 {source="MONDO:GARD"} xref: ICD10CM:A86 {source="Orphanet:163921/ntbt", source="Orphanet:163921"} xref: MEDGEN:1657779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -359368,11 +359438,11 @@ synonym: "acropustulosis" EXACT [DOID:4398] synonym: "localised pustular psoriasis" EXACT OMO:0003005 [] synonym: "localized pustular psoriasis" EXACT [Orphanet:163927] synonym: "LPP" EXACT ABBREVIATION [Orphanet:163927] -synonym: "Palmoplantar Pustulosis" EXACT [NORD:2008] -synonym: "palmoplantar pustulosis" EXACT [DOID:4398, NCIT:C34888, Orphanet:163927] +synonym: "Palmoplantar Pustulosis" EXACT [DOID:4398, icd11.foundation:877172115, NCIT:C34888, NORD:2008, Orphanet:163927] +synonym: "palmoplantar pustulosis" EXACT [DOID:4398, icd11.foundation:877172115, NCIT:C34888, Orphanet:163927] synonym: "PPP" EXACT ABBREVIATION [Orphanet:163927] synonym: "pustular psoriasis of the palms and/or soles" EXACT [DOID:4398] -synonym: "pustulosis of palm and sole" EXACT [MONDO:0002985] +synonym: "pustulosis of palm and sole" EXACT [DOID:4398, MONDO:0002985] xref: DOID:4398 {source="MONDO:equivalentTo"} xref: GARD:12820 {source="MONDO:GARD"} xref: ICD10CM:L40.3 {source="DOID:4398", source="Orphanet:163927", source="MONDO:equivalentTo", source="Orphanet:163927/e", source="Orphanet:163927/specific"} @@ -359452,9 +359522,9 @@ subset: orphanet_rare {source="Orphanet:163976"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type" EXACT DEPRECATED [OMIM:301030] -synonym: "Van Esch-O'Driscoll syndrome" EXACT [OMIM:301030] -synonym: "Van Esch-O'Driscoll syndrome, X-linked recessive" EXACT [OMIM:301030, OMIM:genemap2] -synonym: "VEODS" EXACT ABBREVIATION [OMIM:301030] +synonym: "Van Esch-O'Driscoll syndrome" EXACT [DOID:0111840, OMIM:301030] +synonym: "Van Esch-O'Driscoll syndrome, X-linked recessive" EXACT [] +synonym: "VEODS" EXACT ABBREVIATION [DOID:0111840, OMIM:301030] xref: DOID:0111840 {source="MONDO:equivalentTo"} xref: GARD:17008 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:163976/attributed", source="Orphanet:163976/ntbt", source="Orphanet:163976"} @@ -359517,7 +359587,7 @@ subset: orphanet_rare {source="Orphanet:1642"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal deletion 9p" EXACT [Orphanet:1642] -synonym: "distal monosomy type 9p" EXACT [MONDORULE:4, Orphanet:1642] +synonym: "distal monosomy type 9p" EXACT [MONDORULE:4] synonym: "monosomy 9pter" EXACT [Orphanet:1642] synonym: "telomeric deletion 9p" EXACT [Orphanet:1642] xref: GARD:18732 {source="MONDO:GARD"} @@ -359571,7 +359641,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1646"} subset: orphanet_rare {source="Orphanet:1646"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Male sterility due to chromosome Y deletion" EXACT [Orphanet:1646] +synonym: "Male sterility due to chromosome Y deletion" EXACT [] synonym: "partial deletion of chromosome Y" RELATED [GARD:0004230] synonym: "partial deletion of the long arm of the Y chromosome" RELATED [GARD:0004230] synonym: "partial deletion of Y" RELATED [GARD:0004230] @@ -359619,7 +359689,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "advanced sleep phase syndrome, familial" RELATED [GARD:0009242] synonym: "familial advanced sleep phase syndrome" RELATED [GARD:0009242] -synonym: "familial advanced sleep-phase syndrome" EXACT [DOID:0050628] +synonym: "familial advanced sleep-phase syndrome" EXACT [DOID:0050628, Orphanet:164736] synonym: "FASPS" EXACT ABBREVIATION [Orphanet:164736] xref: DOID:0050628 {source="MONDO:equivalentTo"} xref: GARD:9242 {source="MONDO:GARD"} @@ -359643,7 +359713,7 @@ subset: ordo_group_of_disorders {source="Orphanet:164823"} subset: rare synonym: "acquired aplastic anemia" EXACT [MONDO:patterns/acquired] synonym: "rare acquired aplastic anaemia" RELATED OMO:0003005 [] -synonym: "rare acquired aplastic anemia" RELATED [Orphanet:164823] +synonym: "rare acquired aplastic anemia" RELATED [] xref: GARD:20058 {source="MONDO:GARD"} xref: ICD10CM:D61.1 {source="Orphanet:164823/btnt", source="Orphanet:164823"} xref: ICD10CM:D61.2 {source="Orphanet:164823/btnt", source="Orphanet:164823"} @@ -359666,9 +359736,9 @@ subset: gard_rare {source="GARD:3262", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:165"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Chanarin-Dorfman syndrome" NARROW [DOID:0050729] +synonym: "Chanarin-Dorfman syndrome" NARROW [] synonym: "lipidosis with triglycerid storage disease" RELATED [GARD:0003262] -synonym: "lipidosis with triglyceride storage disease" EXACT [Orphanet:165] +synonym: "lipidosis with triglyceride storage disease" EXACT [icd11.foundation:621440298, Orphanet:165] xref: DOID:0050729 {source="MONDO:equivalentTo"} xref: GARD:3262 {source="MONDO:GARD"} xref: ICD10CM:E75.5 {source="Orphanet:165/attributed", source="Orphanet:165/ntbt", source="Orphanet:165"} @@ -359690,8 +359760,8 @@ subset: ordo_disorder {source="Orphanet:1652"} subset: orphanet_rare {source="Orphanet:1652"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Dent disease 1" NARROW [DOID:0050699] -synonym: "Dent disease 2" NARROW [DOID:0050699] +synonym: "Dent disease 1" NARROW [] +synonym: "Dent disease 2" NARROW [] synonym: "Dent syndrome" EXACT [Orphanet:1652] synonym: "Dent's disease" EXACT [DOID:0050699] synonym: "Dents disease" RELATED [GARD:0013105] @@ -359757,10 +359827,10 @@ subset: ordo_disorder {source="Orphanet:1656"} subset: orphanet_rare {source="Orphanet:1656"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dermatitis herpetiformis" EXACT [DOID:8505, ICD9CM:694.0, MONDO:0006538] +synonym: "dermatitis herpetiformis" EXACT [DOID:8505, ICD10CM:L13.0, icd11.foundation:286313127, ICD9CM:694.0, MONDO:0006538, NCIT:C26742, Orphanet:1656] synonym: "dermatosis herpetiformis" EXACT [DOID:8505] -synonym: "Duhring's disease" EXACT [DOID:8505] -synonym: "Durhing-Brocq disease" EXACT [Orphanet:1656] +synonym: "Duhring's disease" EXACT [DOID:8505, ICD10CM:L13.0] +synonym: "Durhing-Brocq disease" EXACT [] xref: DOID:8505 {source="MONDO:equivalentTo", source="EFO:1000684"} xref: EFO:1000684 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10075 {source="MONDO:GARD"} @@ -359796,7 +359866,7 @@ id: MONDO:0015616 name: obsolete rare genetic intestinal disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:165655"} -synonym: "genetic intestinal disease" EXACT [Orphanet:165655] +synonym: "genetic intestinal disease" EXACT [] xref: Orphanet:165655 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -359806,7 +359876,7 @@ replaced_by: MONDO:0005020 id: MONDO:0015617 name: obsolete hereditary gastro-esophageal disease subset: ordo_group_of_disorders {source="Orphanet:165658"} -synonym: "genetic gastro-esophageal disease" EXACT [Orphanet:165658] +synonym: "genetic gastro-esophageal disease" EXACT [] xref: Orphanet:165658 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -359868,7 +359938,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:165955"} subset: orphanet_rare {source="Orphanet:165955"} subset: rare -synonym: "traumatic myiasis" EXACT [Orphanet:165955] +synonym: "traumatic myiasis" EXACT [ICD10CM:B87.1, icd11.foundation:894204357, Orphanet:165955] xref: GARD:20065 {source="MONDO:GARD"} xref: ICD10CM:B87.1 {source="MONDO:equivalentTo", source="Orphanet:165955", source="Orphanet:165955/ntbt"} xref: icd11.foundation:894204357 {source="MONDO:equivalentTo"} @@ -359940,16 +360010,16 @@ subset: ordo_group_of_disorders {source="Orphanet:166"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Charcot Marie Tooth disease" RELATED [GARD:0006034] -synonym: "Charcot Marie Tooth muscular atrophy" EXACT [DOID:10595] -synonym: "Charcot-Marie-Tooth disease" EXACT CLINGEN_LABEL [NCIT:C75467] -synonym: "Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy" RELATED [Orphanet:166] +synonym: "Charcot Marie Tooth muscular atrophy" EXACT [] +synonym: "Charcot-Marie-Tooth disease" EXACT CLINGEN_LABEL [DOID:10595, NCIT:C75467, OMIMPS:118220] +synonym: "Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy" RELATED [] synonym: "Charcot-Marie-Tooth hereditary neuropathy" EXACT [Orphanet:166] -synonym: "CMT" EXACT ABBREVIATION [Orphanet:166] +synonym: "CMT" EXACT ABBREVIATION [] synonym: "CMT - Charcot-Marie-Tooth disease" EXACT [DOID:10595] -synonym: "CMT/HMSN" EXACT [Orphanet:166] -synonym: "hereditary motor and sensory neuropathy" BROAD [NCIT:C75467] -synonym: "hereditary sensorimotor neuropathy" BROAD [NCIT:C75467] -synonym: "peroneal muscular atrophy" EXACT [DOID:10595, ICD9CM:356.1] +synonym: "CMT/HMSN" EXACT ABBREVIATION [Orphanet:166] +synonym: "hereditary motor and sensory neuropathy" BROAD [] +synonym: "hereditary sensorimotor neuropathy" BROAD [] +synonym: "peroneal muscular atrophy" EXACT [ICD9CM:356.1] xref: DOID:10595 {source="MONDO:equivalentTo"} xref: GARD:6034 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:166/ntbt", source="Orphanet:166/inclusion", source="DOID:10595", source="Orphanet:166"} @@ -360030,7 +360100,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:166087"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "von Willebrand disease type 2B" EXACT CLINGEN_LABEL [] +synonym: "von Willebrand disease type 2B" EXACT CLINGEN_LABEL [icd11.foundation:1383884415, Orphanet:166087] synonym: "von Willebrand disease, type 2B" EXACT [NCIT:C131687] xref: GARD:17022 {source="MONDO:GARD"} xref: ICD10CM:D68.0 {source="Orphanet:166087", source="Orphanet:166087/attributed", source="Orphanet:166087/ntbt"} @@ -360177,7 +360247,7 @@ subset: rare synonym: "Dirofilaria caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Dirofilaria disease or disorder" EXACT [] synonym: "Dirofilaria infectious disease" EXACT [DOID:1082] -synonym: "infection by Dirofilaria" EXACT [DOID:1082] +synonym: "infection by Dirofilaria" EXACT [DOID:1082, icd11.foundation:1349492056] xref: DOID:1082 {source="EFO:0007239", source="MONDO:equivalentTo"} xref: EFO:0007239 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:11908 {source="MONDO:GARD"} @@ -360270,7 +360340,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:166308"} subset: orphanet_rare {source="Orphanet:166308"} subset: rare -synonym: "benign infantile focal epilepsy with midline spikes and waves during sleep" RELATED [Orphanet:166308] +synonym: "benign infantile focal epilepsy with midline spikes and waves during sleep" RELATED [] synonym: "BIMSE" EXACT ABBREVIATION [Orphanet:166308] xref: GARD:20075 {source="MONDO:GARD"} xref: MEDGEN:1663004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -360303,7 +360373,7 @@ subset: orphanet_rare {source="Orphanet:166409"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "photogenic epilepsy" EXACT [DOID:0060281] -synonym: "photoparoxysmal response" EXACT [DOID:0060281] +synonym: "photoparoxysmal response" EXACT [DOID:0060281, OMIMPS:132100] synonym: "PSE" RELATED ABBREVIATION [GARD:0005648] xref: DOID:0060281 {source="MONDO:equivalentTo"} xref: GARD:5648 {source="MONDO:GARD"} @@ -360348,7 +360418,7 @@ subset: ordo_disorder {source="Orphanet:166418"} subset: orphanet_rare {source="Orphanet:166418"} subset: rare synonym: "eating epilepsy" EXACT [Orphanet:166418] -synonym: "eating reflex epilepsy" RELATED [Orphanet:166418] +synonym: "eating reflex epilepsy" RELATED [] xref: GARD:20078 {source="MONDO:GARD"} xref: ICD10CM:G40.8 {source="Orphanet:166418/ntbt", source="Orphanet:166418"} xref: MEDGEN:581543 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -360514,7 +360584,7 @@ id: MONDO:0015656 name: obsolete metabolic disease with epilepsy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: metabolic disease subset: ordo_group_of_disorders {source="Orphanet:166481"} -synonym: "metabolic diseases with epilepsy" EXACT [Orphanet:166481] +synonym: "metabolic diseases with epilepsy" EXACT [] xref: Orphanet:166481 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -360584,7 +360654,7 @@ subset: ordo_disorder {source="Orphanet:1666"} subset: ordo_morphological_anomaly {source="Orphanet:1666"} subset: orphanet_rare {source="Orphanet:1666"} subset: rare -synonym: "dextrocardia" EXACT [MONDO:ambiguous] +synonym: "dextrocardia" EXACT [DOID:9565, icd11.foundation:1472687600, MONDO:ambiguous, NCIT:C84669, Orphanet:1666] synonym: "dextrocardia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "heart predominantly in right hemithorax" EXACT [DOID:9565] xref: DOID:9565 {source="MONDO:equivalentTo"} @@ -360611,8 +360681,8 @@ id: MONDO:0015662 name: obsolete hemorrhagic disorder due to an acquired coagulation factor defect subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:166775"} -synonym: "rare bleeding disorder due to an acquired coagulation factor defect" EXACT [Orphanet:166775] -synonym: "rare coagulopathy due to an acquired coagulation factor defect" EXACT [Orphanet:166775] +synonym: "rare bleeding disorder due to an acquired coagulation factor defect" EXACT [] +synonym: "rare coagulopathy due to an acquired coagulation factor defect" EXACT [] xref: Orphanet:166775 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -360689,7 +360759,7 @@ synonym: "lichen myxedematosus" RELATED [MESH:D053718] synonym: "mucinosis, papular" RELATED [MESH:D053718] synonym: "myxedematosus, lichen" RELATED [MESH:D053718] synonym: "papular mucinosis" RELATED [MESH:D053718] -synonym: "Scleromyxedema" EXACT [NCIT:C85061] +synonym: "Scleromyxedema" EXACT [NCIT:C85061, Orphanet:167635] synonym: "scleromyxoedema" EXACT [https://www.dermnetnz.org/topics/lichen-myxoedematosus/] xref: GARD:7615 {source="MONDO:GARD"} xref: ICD10CM:L98.5 {source="Orphanet:167635", source="Orphanet:167635/ntbt"} @@ -360747,7 +360817,7 @@ synonym: "acute myeloid leukaemia" BROAD OMO:0003005 [] synonym: "acute myeloid leukaemia NOS" EXACT OMO:0003005 [] synonym: "acute myeloid leukaemia not otherwise categorised" EXACT OMO:0003005 [] synonym: "acute myeloid leukaemia not otherwise specified" EXACT OMO:0003005 [] -synonym: "acute myeloid leukemia" BROAD [NCIT:C27753] +synonym: "acute myeloid leukemia" BROAD [] synonym: "acute myeloid leukemia NOS" EXACT [NCIT:C27753] synonym: "acute myeloid leukemia not otherwise categorized" EXACT [NCIT:C27753] synonym: "acute myeloid leukemia not otherwise specified" EXACT [NCIT:C27753] @@ -360847,10 +360917,10 @@ synonym: "Bielschowsky-jansky disease" RELATED [] synonym: "Bielschowsky-jansky type neuronal ceroid lipofuscinosis" RELATED [] synonym: "dollinger-Bielschowsky syndrome" RELATED [] synonym: "dollinger-Bielschowsky type neuronal ceroid lipofuscinosis" RELATED [] -synonym: "Jansky-Bielschowsky disease" EXACT [Orphanet:168491] -synonym: "late infantile NCL" EXACT [Orphanet:168491] +synonym: "Jansky-Bielschowsky disease" EXACT [icd11.foundation:1923920542] +synonym: "late infantile NCL" EXACT [] synonym: "late-infantile neuronal ceroid lipofuscinosis" EXACT [] -synonym: "LINCL" EXACT ABBREVIATION [Orphanet:168491] +synonym: "LINCL" EXACT ABBREVIATION [] xref: GARD:17032 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="Orphanet:168491", source="Orphanet:168491/attributed", source="Orphanet:168491/ntbt"} xref: icd11.foundation:1923920542 {source="MONDO:equivalentTo"} @@ -360901,7 +360971,7 @@ subset: ordo_disorder {source="Orphanet:1686"} subset: ordo_morphological_anomaly {source="Orphanet:1686"} subset: orphanet_rare {source="Orphanet:1686"} subset: rare -synonym: "Cardiac diverticulum" EXACT [MONDO:ambiguous] +synonym: "Cardiac diverticulum" EXACT [MONDO:ambiguous, Orphanet:1686] synonym: "cardiac diverticulum (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:1094 {source="MONDO:GARD"} xref: HP:0100571 {source="MONDO:otherHierarchy"} @@ -360952,9 +361022,9 @@ name: obsolete rare pervasive developmental disorder def: "OBSOLETE. Rare pervasive developmental disorder." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:168778"} -synonym: "rare ASD" NARROW [Orphanet:168778] -synonym: "rare autism spectrum disorder" NARROW [Orphanet:168778] -synonym: "rare PDD" NARROW [Orphanet:168778] +synonym: "rare ASD" NARROW [] +synonym: "rare autism spectrum disorder" NARROW [] +synonym: "rare PDD" NARROW [] synonym: "rare pervasive developmental disorder" NARROW [MONDO:patterns/rare] xref: ICD10CM:F84.0 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} xref: ICD10CM:F84.1 {source="Orphanet:168778", source="Orphanet:168778/specific", source="Orphanet:168778/btnt"} @@ -360982,10 +361052,10 @@ subset: ordo_disorder {source="Orphanet:168782"} subset: orphanet_rare {source="Orphanet:168782"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "childhood disintegrative disease" EXACT [MONDO:0001726] -synonym: "dementia infantilis" EXACT [Orphanet:168782] -synonym: "disintegrative psychosis" EXACT [DOID:13487] -synonym: "heller syndrome" EXACT [Orphanet:168782] +synonym: "childhood disintegrative disease" EXACT [DOID:13487, MONDO:0001726] +synonym: "dementia infantilis" EXACT [icd11.foundation:1460615954, Orphanet:168782] +synonym: "disintegrative psychosis" EXACT [DOID:13487, icd11.foundation:1460615954] +synonym: "heller syndrome" EXACT [icd11.foundation:1460615954, Orphanet:168782] synonym: "heller's syndrome" EXACT [DOID:13487] synonym: "symbiotic psychosis" EXACT [DOID:13487] xref: DOID:13487 {source="MONDO:equivalentTo"} @@ -361054,7 +361124,7 @@ synonym: "EOPPC" EXACT ABBREVIATION [Orphanet:168829] synonym: "Extra-ovarian primary peritoneal carcinoma" EXACT [Orphanet:168829] synonym: "PPC" EXACT ABBREVIATION [NCIT:C40022, Orphanet:168829] synonym: "primary peritoneal cancer" EXACT [NCIT:C40022] -synonym: "primary peritoneal carcinoma" EXACT [MONDO:ambiguous, NCIT:C40022] +synonym: "primary peritoneal carcinoma" EXACT [MONDO:ambiguous, NCIT:C40022, Orphanet:168829] synonym: "primary peritoneal carcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "primary peritoneal serous carcinoma" EXACT [Orphanet:168829] synonym: "serous surface papillary carcinoma" EXACT [Orphanet:168829] @@ -361077,12 +361147,12 @@ subset: ordo_disorder {source="Orphanet:168940"} subset: orphanet_rare {source="Orphanet:168940"} subset: rare synonym: "CEL" EXACT ABBREVIATION [NCIT:C4563] -synonym: "CEL/hypereosinophilic syndrome" EXACT [NCIT:C4563] +synonym: "CEL/hypereosinophilic syndrome" EXACT [] synonym: "CELNOS" RELATED ABBREVIATION [ONCOTREE:CELNOS] -synonym: "chronic eosinophilic leukemia" EXACT [NCIT:C4563] -synonym: "chronic eosinophilic leukemia, NOS" RELATED EXCLUDE [NCIT:C4563] -synonym: "chronic eosinophilic leukemia, not otherwise specified" RELATED EXCLUDE [NCIT:C4563] -synonym: "chronic eosinophilic leukemia/hypereosinophilic syndrome" EXACT [NCIT:C4563] +synonym: "chronic eosinophilic leukemia" EXACT [DOID:0080367, NCIT:C4563, Orphanet:168940] +synonym: "chronic eosinophilic leukemia, NOS" RELATED EXCLUDE [] +synonym: "chronic eosinophilic leukemia, not otherwise specified" RELATED EXCLUDE [] +synonym: "chronic eosinophilic leukemia/hypereosinophilic syndrome" EXACT [] synonym: "eosinophilic leukaemia" EXACT OMO:0003005 [] synonym: "eosinophilic leukemia" EXACT [NCIT:C4563] xref: DOID:0080367 {source="MONDO:equivalentTo"} @@ -361110,12 +361180,12 @@ subset: gard_rare {source="GARD:20105", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:168943"} subset: rare -synonym: "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1" EXACT [MONDO:0000881] +synonym: "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1" EXACT [DOID:0080164, MONDO:0000881] synonym: "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1" EXACT [NCIT:C84270] synonym: "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms" EXACT [DOID:0080164] synonym: "myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" EXACT [DOID:0080164, NCIT:C84270] synonym: "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2" EXACT [Orphanet:168943] -synonym: "myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement" EXACT [NCIT:C84270] +synonym: "myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement" EXACT [] synonym: "myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" EXACT [NCIT:C84270] xref: DOID:0080164 {source="MONDO:equivalentTo"} xref: GARD:20105 {source="MONDO:GARD"} @@ -361137,9 +361207,9 @@ subset: gard_rare {source="GARD:20106", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:168947"} subset: orphanet_rare {source="Orphanet:168947"} subset: rare -synonym: "myeloid and lymphoid neoplasms associated with PDGFRA rearrangement" EXACT [MONDO:0000882] +synonym: "myeloid and lymphoid neoplasms associated with PDGFRA rearrangement" EXACT [DOID:0080165, MONDO:0000882] synonym: "myeloid and lymphoid neoplasms with PDGFRA rearrangement" EXACT [DOID:0080165, NCIT:C84275] -synonym: "myeloid/lymphoid neoplasm associated with PDGFRA rearrangement" RELATED [Orphanet:168947] +synonym: "myeloid/lymphoid neoplasm associated with PDGFRA rearrangement" RELATED [] synonym: "myeloid/lymphoid neoplasms with PDGFRA rearrangement" EXACT [NCIT:C84275] xref: DOID:0080165 {source="MONDO:equivalentTo"} xref: GARD:20106 {source="MONDO:GARD"} @@ -361165,9 +361235,9 @@ subset: ordo_disorder {source="Orphanet:168950"} subset: orphanet_rare {source="Orphanet:168950"} subset: rare synonym: "myeloid and lymphoid neoplasms with PDGFRB rearrangement" EXACT [DOID:0080166, NCIT:C84276] -synonym: "myeloid neoplasms associated with PDGFRB rearrangement" EXACT [MONDO:0000883] -synonym: "myeloid neoplasms with PDGFRB rearrangement" EXACT [NCIT:C84276] -synonym: "myeloid/lymphoid neoplasm associated with PDGFRB rearrangement" RELATED [Orphanet:168950] +synonym: "myeloid neoplasms associated with PDGFRB rearrangement" EXACT [icd11.foundation:625932159, MONDO:0000883] +synonym: "myeloid neoplasms with PDGFRB rearrangement" EXACT [icd11.foundation:625932159, NCIT:C84276] +synonym: "myeloid/lymphoid neoplasm associated with PDGFRB rearrangement" RELATED [] synonym: "myeloid/lymphoid neoplasms with PDGFRB rearrangement" EXACT [NCIT:C84276] xref: DOID:0080166 {source="MONDO:equivalentTo"} xref: GARD:20107 {source="MONDO:GARD"} @@ -361193,12 +361263,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:168956"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "eosinophilia" RELATED [DOID:999] +synonym: "eosinophilia" RELATED [] synonym: "eosinophilic leukocytosis" EXACT [DOID:999] synonym: "HES" EXACT ABBREVIATION [Orphanet:168956] synonym: "hypereosinophilic disease" EXACT [] synonym: "hypereosinophilic disorder" EXACT [] -synonym: "hypereosinophilic syndrome" EXACT [MONDO:0004945, NCIT:C27038] +synonym: "hypereosinophilic syndrome" EXACT [DOID:999, icd11.foundation:110429919, MONDO:0004945, NCIT:C27038, Orphanet:168956] xref: DOID:999 {source="MONDO:equivalentTo"} xref: EFO:1001467 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:2804 {source="MONDO:GARD"} @@ -361237,6 +361307,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:168960"} subset: orphanet_rare {source="Orphanet:168960"} subset: rare +synonym: "RAEB-T" EXACT ABBREVIATION [NCIT:C27080] synonym: "RAEB-t" EXACT [Orphanet:168960] xref: GARD:20108 {source="MONDO:GARD"} xref: ICD9:238.73 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -361287,7 +361358,7 @@ subset: ordo_disorder {source="Orphanet:169090"} subset: orphanet_rare {source="Orphanet:169090"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "immune dysfunction due to T-cell inactivation due to calcium entry defect" EXACT [Orphanet:169090] +synonym: "immune dysfunction due to T-cell inactivation due to calcium entry defect" EXACT [icd11.foundation:1641826886, Orphanet:169090] xref: GARD:17048 {source="MONDO:GARD"} xref: ICD10CM:D81.8 {source="Orphanet:169090/attributed", source="Orphanet:169090/ntbt", source="Orphanet:169090"} xref: icd11.foundation:1641826886 {source="MONDO:equivalentTo"} @@ -361355,7 +361426,7 @@ subset: ordo_disorder {source="Orphanet:169139"} subset: orphanet_rare {source="Orphanet:169139"} subset: rare synonym: "THI" EXACT ABBREVIATION [NCIT:C27071] -synonym: "transient hypogammaglobulinemia of infancy" EXACT [DOID:624, NCIT:C27071] +synonym: "transient hypogammaglobulinemia of infancy" EXACT [DOID:624, ICD10CM:D80.7, NCIT:C27071, Orphanet:169139] xref: DOID:624 {source="MONDO:equivalentTo"} xref: GARD:20112 {source="MONDO:GARD"} xref: ICD10CM:D80.7 {source="DOID:624", source="Orphanet:169139", source="MONDO:equivalentTo", source="Orphanet:169139/e", source="Orphanet:169139/specific"} @@ -361379,7 +361450,7 @@ subset: ordo_disorder {source="Orphanet:169147"} subset: orphanet_rare {source="Orphanet:169147"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "immunodeficiency due to a C1, C4, or C2 component complement deficiency" EXACT [Orphanet:169147] +synonym: "immunodeficiency due to a C1, C4, or C2 component complement deficiency" EXACT [] synonym: "immunodeficiency due to an early component of complement deficiency" EXACT [Orphanet:169147] synonym: "immunodeficiency due to C1, C4, or C2 component complement deficiency" EXACT [Orphanet:169147] xref: GARD:15025 {source="MONDO:GARD"} @@ -361400,8 +361471,8 @@ subset: ordo_disorder {source="Orphanet:169150"} subset: orphanet_rare {source="Orphanet:169150"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deficiency of complement of terminal pathway" EXACT [Orphanet:169150] -synonym: "immunodeficiency due to a C5 to C9 component complement deficiency" EXACT [Orphanet:169150] +synonym: "deficiency of complement of terminal pathway" EXACT [] +synonym: "immunodeficiency due to a C5 to C9 component complement deficiency" EXACT [] synonym: "immunodeficiency due to C5 to C9 component complement deficiency" EXACT [Orphanet:169150] synonym: "terminal complement pathway deficiency" EXACT [Orphanet:169150] xref: GARD:17050 {source="MONDO:GARD"} @@ -361424,9 +361495,9 @@ subset: ordo_disorder {source="Orphanet:169154"} subset: orphanet_rare {source="Orphanet:169154"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IL-7R" EXACT [DOID:0060015] +synonym: "IL-7R" EXACT [] synonym: "IL-7Ralpha deficiency" EXACT [] -synonym: "interleukin-7 receptor alpha deficiency" RELATED [DOID:0060015] +synonym: "interleukin-7 receptor alpha deficiency" RELATED [] synonym: "T-B+ SCID due to IL-7Ralpha deficiency" EXACT [Orphanet:169154] xref: DOID:0060015 {source="MONDO:equivalentObsolete"} xref: GARD:17051 {source="MONDO:GARD"} @@ -361447,7 +361518,7 @@ subset: ordo_disorder {source="Orphanet:169157"} subset: orphanet_rare {source="Orphanet:169157"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CD45 deficiency" EXACT [MONDO:0000574] +synonym: "CD45 deficiency" EXACT [DOID:0060014, MONDO:0000574] synonym: "T-B+ SCID due to CD45 deficiency" EXACT [Orphanet:169157] xref: DOID:0060014 {source="MONDO:equivalentTo"} xref: GARD:17052 {source="MONDO:GARD"} @@ -361504,7 +361575,7 @@ subset: ordo_disorder {source="Orphanet:169186"} subset: orphanet_rare {source="Orphanet:169186"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AR-CNM" EXACT [Orphanet:169186] +synonym: "AR-CNM" EXACT ABBREVIATION [DOID:0111216, Orphanet:169186] synonym: "centronuclear myopathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: DOID:0111216 {source="MONDO:equivalentTo"} xref: GARD:12718 {source="MONDO:GARD"} @@ -361530,7 +361601,7 @@ subset: orphanet_rare {source="Orphanet:1692"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Mosaic trisomy chromosome 1" EXACT [Orphanet:1692] -synonym: "Mosaic trisomy type 1" EXACT [MONDORULE:1, Orphanet:1692] +synonym: "Mosaic trisomy type 1" EXACT [MONDORULE:1] synonym: "trisomy 1 mosaicism" EXACT [Orphanet:1692] xref: GARD:18736 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:1692", source="Orphanet:1692/attributed", source="Orphanet:1692/ntbt"} @@ -361621,7 +361692,7 @@ subset: orphanet_rare {source="Orphanet:1695"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "non-distal duplication 10q" EXACT [Orphanet:1695] -synonym: "non-distal trisomy type 10q" EXACT [MONDORULE:4, Orphanet:1695] +synonym: "non-distal trisomy type 10q" EXACT [MONDORULE:4] synonym: "non-telomeric trisomy 10q" EXACT [Orphanet:1695] xref: GARD:18737 {source="MONDO:GARD"} xref: MEDGEN:1664181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -361672,9 +361743,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:169793"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "severe factor IX deficiency" EXACT [Orphanet:169793] +synonym: "severe factor IX deficiency" EXACT [] synonym: "severe haemophilia type B" EXACT OMO:0003005 [] -synonym: "severe hemophilia type B" EXACT [MONDORULE:1, Orphanet:169793] +synonym: "severe hemophilia type B" EXACT [MONDORULE:1] xref: GARD:17056 {source="MONDO:GARD"} xref: ICD10CM:D67 {source="Orphanet:169793/attributed", source="Orphanet:169793/ntbt", source="Orphanet:169793"} xref: MEDGEN:1826004 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -361691,9 +361762,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:169796"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "moderately severe factor IX deficiency" EXACT [Orphanet:169796] +synonym: "moderately severe factor IX deficiency" EXACT [] synonym: "moderately severe haemophilia type B" EXACT OMO:0003005 [] -synonym: "moderately severe hemophilia type B" EXACT [MONDORULE:1, Orphanet:169796] +synonym: "moderately severe hemophilia type B" EXACT [MONDORULE:1] xref: GARD:17057 {source="MONDO:GARD"} xref: ICD10CM:D67 {source="Orphanet:169796/attributed", source="Orphanet:169796/ntbt", source="Orphanet:169796"} xref: MEDGEN:1842225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -361710,9 +361781,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:169799"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mild factor IX deficiency" EXACT [Orphanet:169799] +synonym: "mild factor IX deficiency" EXACT [] synonym: "mild haemophilia type B" EXACT OMO:0003005 [] -synonym: "mild hemophilia type B" EXACT [MONDORULE:1, Orphanet:169799] +synonym: "mild hemophilia type B" EXACT [MONDORULE:1] xref: GARD:17058 {source="MONDO:GARD"} xref: ICD10CM:D67 {source="Orphanet:169799/attributed", source="Orphanet:169799/ntbt", source="Orphanet:169799"} xref: MEDGEN:1826003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -361731,7 +361802,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1698"} subset: orphanet_rare {source="Orphanet:1698"} subset: rare synonym: "Mosaic trisomy chromosome 12" EXACT [Orphanet:1698] -synonym: "Mosaic trisomy type 12" EXACT [MONDORULE:2, Orphanet:1698] +synonym: "Mosaic trisomy type 12" EXACT [MONDORULE:2] synonym: "trisomy 12 mosaicism" EXACT [Orphanet:1698] xref: GARD:5304 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:1698", source="Orphanet:1698/attributed", source="Orphanet:1698/ntbt"} @@ -361753,9 +361824,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:169802"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "severe factor VIII deficiency" EXACT [Orphanet:169802] +synonym: "severe factor VIII deficiency" EXACT [] synonym: "severe haemophilia type A" EXACT OMO:0003005 [] -synonym: "severe hemophilia type A" EXACT [MONDORULE:1, Orphanet:169802] +synonym: "severe hemophilia type A" EXACT [MONDORULE:1] xref: GARD:17059 {source="MONDO:GARD"} xref: ICD10CM:D66 {source="Orphanet:169802", source="Orphanet:169802/attributed", source="Orphanet:169802/ntbt"} xref: MEDGEN:543973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -361773,9 +361844,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:169805"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "moderately severe factor VIII deficiency" EXACT [Orphanet:169805] +synonym: "moderately severe factor VIII deficiency" EXACT [] synonym: "moderately severe haemophilia type A" EXACT OMO:0003005 [] -synonym: "moderately severe hemophilia type A" EXACT [MONDORULE:1, Orphanet:169805] +synonym: "moderately severe hemophilia type A" EXACT [MONDORULE:1] xref: GARD:17060 {source="MONDO:GARD"} xref: ICD10CM:D66 {source="Orphanet:169805", source="Orphanet:169805/attributed", source="Orphanet:169805/ntbt"} xref: MEDGEN:543974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -361792,9 +361863,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:169808"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mild factor VIII deficiency" EXACT [Orphanet:169808] +synonym: "mild factor VIII deficiency" EXACT [] synonym: "mild haemophilia type A" EXACT OMO:0003005 [] -synonym: "mild hemophilia type A" EXACT [MONDORULE:1, Orphanet:169808] +synonym: "mild hemophilia type A" EXACT [MONDORULE:1] xref: GARD:17061 {source="MONDO:GARD"} xref: ICD10CM:D66 {source="Orphanet:169808/attributed", source="Orphanet:169808/ntbt", source="Orphanet:169808"} xref: MEDGEN:543975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -361813,7 +361884,7 @@ subset: ordo_disorder {source="Orphanet:98434"} subset: ordo_group_of_disorders {source="Orphanet:169826"} subset: orphanet_rare {source="Orphanet:98434"} subset: rare -synonym: "congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [OMIMPS:277450] +synonym: "congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [] synonym: "vitamin K-dependent clotting factors, combined deficiency of" EXACT [OMIMPS:277450] xref: DOID:0112172 {source="MONDO:equivalentTo"} xref: GARD:20121 {source="MONDO:GARD"} @@ -361846,7 +361917,7 @@ synonym: "12p trisomy" RELATED [GARD:0005305] synonym: "chromosome 12p duplication" RELATED [GARD:0005305] synonym: "Duplication 12p" EXACT [Orphanet:1699] synonym: "partial trisomy 12p" RELATED [GARD:0005305] -synonym: "trisomy type 12p" EXACT [MONDORULE:4, Orphanet:1699] +synonym: "trisomy type 12p" EXACT [MONDORULE:4] xref: GARD:5305 {source="MONDO:GARD"} xref: MEDGEN:162880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538299 {source="MONDO:equivalentTo"} @@ -361867,7 +361938,7 @@ subset: orphanet_rare {source="Orphanet:1702"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "non-distal duplication 13q" EXACT [Orphanet:1702] -synonym: "non-distal trisomy type 13q" EXACT [MONDORULE:4, Orphanet:1702] +synonym: "non-distal trisomy type 13q" EXACT [MONDORULE:4] synonym: "non-telomeric trisomy 13q" EXACT [Orphanet:1702] xref: GARD:18738 {source="MONDO:GARD"} xref: MEDGEN:1637117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -361891,7 +361962,7 @@ subset: orphanet_rare {source="Orphanet:1703"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Mosaic trisomy chromosome 14" RELATED [GARD:0001327] -synonym: "Mosaic trisomy type 14" EXACT [MONDORULE:2, Orphanet:1703] +synonym: "Mosaic trisomy type 14" EXACT [MONDORULE:2] synonym: "trisomy 14 mosaicism" RELATED [GARD:0001327] xref: GARD:1327 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:1703", source="Orphanet:1703/attributed", source="Orphanet:1703/ntbt"} @@ -361919,7 +361990,7 @@ subset: orphanet_rare {source="Orphanet:1705"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal duplication 14q" EXACT [Orphanet:1705] -synonym: "distal trisomy type 14q" EXACT [MONDORULE:4, Orphanet:1705] +synonym: "distal trisomy type 14q" EXACT [MONDORULE:4] synonym: "telomeric duplication 14q" EXACT [Orphanet:1705] synonym: "trisomy 14qter" EXACT [Orphanet:1705] xref: GARD:18739 {source="MONDO:GARD"} @@ -361947,7 +362018,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chromosome 15, trisomy mosaicism" RELATED [GARD:0005313] synonym: "Mosaic trisomy chromosome 15" EXACT [Orphanet:1706] -synonym: "Mosaic trisomy type 15" EXACT [MONDORULE:2, Orphanet:1706] +synonym: "Mosaic trisomy type 15" EXACT [MONDORULE:2] synonym: "trisomy 15 mosaicism" EXACT [Orphanet:1706] xref: GARD:5313 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:1706/attributed", source="Orphanet:1706/ntbt", source="Orphanet:1706"} @@ -361972,7 +362043,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Chromosome 15, Distal Trisomy 15q" EXACT [NORD:942] synonym: "distal duplication 15q" EXACT [Orphanet:1707] -synonym: "distal trisomy type 15q" EXACT [MONDORULE:4, Orphanet:1707] +synonym: "distal trisomy type 15q" EXACT [MONDORULE:4] synonym: "telomeric duplication 15q" EXACT [Orphanet:1707] synonym: "trisomy 15qter" EXACT [Orphanet:1707] xref: GARD:18740 {source="MONDO:GARD"} @@ -361998,7 +362069,7 @@ subset: orphanet_rare {source="Orphanet:1708"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Mosaic trisomy chromosome 16" EXACT [Orphanet:1708] -synonym: "Mosaic trisomy type 16" EXACT [MONDORULE:2, Orphanet:1708] +synonym: "Mosaic trisomy type 16" EXACT [MONDORULE:2] synonym: "trisomy 16 mosaicism" EXACT [Orphanet:1708] xref: GARD:18741 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:1708", source="Orphanet:1708/attributed", source="Orphanet:1708/ntbt"} @@ -362029,7 +362100,7 @@ synonym: "chromosome 17 trisomy" RELATED [GARD:0005317] synonym: "chromosome 17, trisomy" RELATED [GARD:0005317] synonym: "chromosome 17, trisomy mosaicism" RELATED [GARD:0005317] synonym: "Mosaic trisomy chromosome 17" EXACT [Orphanet:1711] -synonym: "Mosaic trisomy type 17" EXACT [MONDORULE:2, Orphanet:1711] +synonym: "Mosaic trisomy type 17" EXACT [MONDORULE:2] synonym: "trisomy 17" RELATED [GARD:0005317] synonym: "trisomy 17 mosaicism" EXACT [Orphanet:1711] xref: GARD:5317 {source="MONDO:GARD"} @@ -362247,7 +362318,7 @@ synonym: "Duplication 18p" EXACT [Orphanet:1715] synonym: "Duplication of the short arm of chromosome 18" EXACT [Orphanet:1715] synonym: "partial trisomy 18p" RELATED [GARD:0005323] synonym: "trisomy of the short arm of chromosome 18" EXACT [Orphanet:1715] -synonym: "trisomy type 18p" EXACT [MONDORULE:4, Orphanet:1715] +synonym: "trisomy type 18p" EXACT [MONDORULE:4] xref: GARD:5323 {source="MONDO:GARD"} xref: ICD10CM:Q92.2 {source="Orphanet:1715/attributed", source="Orphanet:1715/ntbt", source="Orphanet:1715"} xref: icd11.foundation:2079728626 {source="MONDO:equivalentTo", source="Orphanet:1715", source="https://orcid.org/0000-0002-4142-7153"} @@ -362269,7 +362340,7 @@ subset: orphanet_rare {source="Orphanet:1716"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal duplication 18q" EXACT [Orphanet:1716] -synonym: "distal trisomy type 18q" EXACT [MONDORULE:4, Orphanet:1716] +synonym: "distal trisomy type 18q" EXACT [MONDORULE:4] synonym: "telomeric duplication 18q" EXACT [Orphanet:1716] synonym: "trisomy 18qter" EXACT [Orphanet:1716] xref: GARD:18742 {source="MONDO:GARD"} @@ -362333,7 +362404,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1717"} subset: orphanet_rare {source="Orphanet:1717"} subset: rare synonym: "distal duplication 19q" EXACT [Orphanet:1717] -synonym: "distal trisomy type 19q" EXACT [MONDORULE:4, Orphanet:1717] +synonym: "distal trisomy type 19q" EXACT [MONDORULE:4] synonym: "telomeric duplication 19q" EXACT [Orphanet:1717] synonym: "trisomy 19qter" EXACT [Orphanet:1717] xref: GARD:18743 {source="MONDO:GARD"} @@ -362375,10 +362446,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:171709"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "globozoospermia" RELATED [DOID:0111156] -synonym: "male infertility due to globozoospermia" EXACT [DOID:0111156] +synonym: "globozoospermia" RELATED [] +synonym: "male infertility due to globozoospermia" EXACT [DOID:0112312, Orphanet:171709] synonym: "Male infertility due to round-headed spermatozoa" EXACT [Orphanet:171709] -synonym: "male infertility due to round-headed spermatozoa" EXACT [DOID:0111156, GARD:0012502] +synonym: "male infertility due to round-headed spermatozoa" EXACT [GARD:0012502, Orphanet:171709] synonym: "round-headed sperm syndrome" EXACT [Orphanet:171709] xref: DOID:0112312 {source="MONDO:equivalentTo"} xref: GARD:12502 {source="MONDO:GARD"} @@ -362406,10 +362477,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:171723"} subset: orphanet_rare {source="Orphanet:171723"} subset: rare -synonym: "hereditary mucosal leukokeratosis" EXACT [Orphanet:171723] -synonym: "white sponge nevus" EXACT [DOID:0050448] -synonym: "White sponge nevus of Cannon" EXACT [Orphanet:171723] -synonym: "white sponge nevus of Cannon" EXACT [DOID:0050448] +synonym: "hereditary mucosal leukokeratosis" EXACT [DOID:0050448, NCIT:C84760, Orphanet:171723] +synonym: "white sponge nevus" EXACT [DOID:0050448, NCIT:C84760, OMIMPS:193900, Orphanet:171723] +synonym: "White sponge nevus of Cannon" EXACT [DOID:0050448, NCIT:C84760, Orphanet:171723] +synonym: "white sponge nevus of Cannon" EXACT [DOID:0050448, NCIT:C84760, Orphanet:171723] xref: DOID:0050448 {source="MONDO:equivalentTo"} xref: GARD:8501 {source="MONDO:GARD"} xref: ICD10CM:Q38.6 {source="Orphanet:171723/index", source="Orphanet:171723/ntbt", source="Orphanet:171723"} @@ -362440,7 +362511,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Del(6)(q16)" EXACT [Orphanet:171829] synonym: "monosomy 6q16" EXACT [Orphanet:171829] -synonym: "Prader-Willi-like syndrome due to deletion 6q16" EXACT [Orphanet:171829] +synonym: "Prader-Willi-like syndrome due to deletion 6q16" EXACT [] xref: GARD:20126 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:171829", source="Orphanet:171829/attributed", source="Orphanet:171829/ntbt"} xref: MEDGEN:1759989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -362606,10 +362677,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:171915"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "B-cell lymphoma" EXACT [NCIT:C3457] +synonym: "B-cell lymphoma" EXACT [] synonym: "B-cell NHL" EXACT [Orphanet:171915] synonym: "B-cell non Hodgkin's lymphoma" EXACT [NCIT:C3457] -synonym: "B-cell non-Hodgkin lymphoma" EXACT [NCIT:C3457] +synonym: "B-cell non-Hodgkin lymphoma" EXACT [NCIT:C3457, Orphanet:171915] synonym: "B-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3457] synonym: "lymphomas non-Hodgkin's B-cell" EXACT [NCIT:C3457] synonym: "non-Hodgkin's B-cell lymphoma" EXACT [NCIT:C3457] @@ -362640,7 +362711,7 @@ synonym: "T-cell and NK-cell non-Hodgkin lymphoma" EXACT [NCIT:C3466] synonym: "T-cell and NK-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3466] synonym: "T-cell lymphoma" EXACT [NCIT:C3466] synonym: "T-cell NHL" EXACT [Orphanet:171918] -synonym: "T-cell non-Hodgkin lymphoma" EXACT [NCIT:C3466] +synonym: "T-cell non-Hodgkin lymphoma" EXACT [DOID:0081312, NCIT:C3466, Orphanet:171918] synonym: "T-cell non-Hodgkin's lymphoma" EXACT [NCIT:C3466] xref: DOID:0081312 {source="MONDO:equivalentTo"} xref: GARD:20133 {source="MONDO:GARD"} @@ -362671,7 +362742,7 @@ synonym: "10p trisomy" RELATED [GARD:0005299] synonym: "chromosome 10p duplication" RELATED [GARD:0005299] synonym: "Duplication 10p" RELATED [GARD:0005299] synonym: "partial trisomy 10p" RELATED [GARD:0005299] -synonym: "trisomy type 10p" EXACT [MONDORULE:4, Orphanet:171929] +synonym: "trisomy type 10p" EXACT [MONDORULE:4] xref: GARD:5299 {source="MONDO:GARD"} xref: ICD10CM:Q92.2 {source="Orphanet:171929", source="Orphanet:171929/attributed", source="Orphanet:171929/ntbt"} xref: MEDGEN:904688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -362692,7 +362763,7 @@ subset: orphanet_rare {source="Orphanet:172"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cholestasis, progressive familial intrahepatic" EXACT [OMIMPS:211600] -synonym: "PFIC" EXACT ABBREVIATION [Orphanet:172] +synonym: "PFIC" EXACT ABBREVIATION [DOID:0070221, Orphanet:172] xref: DOID:0070221 {source="MONDO:equivalentTo"} xref: GARD:15255 {source="MONDO:GARD"} xref: ICD10CM:K76.8 {source="Orphanet:172", source="Orphanet:172/attributed", source="Orphanet:172/ntbt"} @@ -362721,7 +362792,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1723"} subset: orphanet_rare {source="Orphanet:1723"} subset: rare synonym: "Mosaic trisomy chromosome 2" EXACT [Orphanet:1723] -synonym: "Mosaic trisomy type 2" EXACT [MONDORULE:1, Orphanet:1723] +synonym: "Mosaic trisomy type 2" EXACT [MONDORULE:1] synonym: "trisomy 2 mosaicism" EXACT [Orphanet:1723] xref: GARD:5331 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:1723", source="Orphanet:1723/attributed", source="Orphanet:1723/ntbt"} @@ -362746,7 +362817,7 @@ subset: orphanet_rare {source="Orphanet:1724"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Mosaic trisomy chromosome 20" EXACT [Orphanet:1724] -synonym: "Mosaic trisomy type 20" EXACT [MONDORULE:2, Orphanet:1724] +synonym: "Mosaic trisomy type 20" EXACT [MONDORULE:2] xref: GARD:18744 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:1724/attributed", source="Orphanet:1724/ntbt", source="Orphanet:1724"} xref: Orphanet:1724 {source="MONDO:equivalentTo"} @@ -362838,7 +362909,7 @@ synonym: "Duplication 4p" EXACT [Orphanet:1738] synonym: "Duplication of the short arm of chromosome 4" EXACT [Orphanet:1738] synonym: "partial trisomy 4p" RELATED [GARD:0006091] synonym: "trisomy of the short arm of chromosome 4" EXACT [Orphanet:1738] -synonym: "trisomy type 4p" EXACT [MONDORULE:4, Orphanet:1738] +synonym: "trisomy type 4p" EXACT [MONDORULE:4] xref: GARD:6091 {source="MONDO:GARD"} xref: ICD10CM:Q92.2 {source="Orphanet:1738/attributed", source="Orphanet:1738/ntbt", source="Orphanet:1738"} xref: MEDGEN:419836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -362865,7 +362936,7 @@ synonym: "Duplication 5p" EXACT [Orphanet:1742] synonym: "Duplication of the short arm of chromosome 5" EXACT [Orphanet:1742] synonym: "partial trisomy 5p" RELATED [GARD:0006093] synonym: "trisomy of the short arm of chromosome 5" EXACT [Orphanet:1742] -synonym: "trisomy type 5p" EXACT [MONDORULE:4, Orphanet:1742] +synonym: "trisomy type 5p" EXACT [MONDORULE:4] xref: GARD:6093 {source="MONDO:GARD"} xref: ICD10CM:Q92.2 {source="Orphanet:1742", source="Orphanet:1742/attributed", source="Orphanet:1742/ntbt"} xref: MEDGEN:1672500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -362889,7 +362960,7 @@ subset: orphanet_rare {source="Orphanet:1745"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal duplication 6p" EXACT [Orphanet:1745] -synonym: "distal trisomy type 6p" EXACT [MONDORULE:4, Orphanet:1745] +synonym: "distal trisomy type 6p" EXACT [MONDORULE:4] synonym: "telomeric duplication 6p" EXACT [Orphanet:1745] synonym: "trisomy 6pter" EXACT [Orphanet:1745] xref: GARD:18745 {source="MONDO:GARD"} @@ -362934,7 +363005,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1747"} subset: orphanet_rare {source="Orphanet:1747"} subset: rare synonym: "Mosaic trisomy chromosome 7" RELATED [GARD:0005354] -synonym: "Mosaic trisomy type 7" EXACT [MONDORULE:1, Orphanet:1747] +synonym: "Mosaic trisomy type 7" EXACT [MONDORULE:1] synonym: "trisomy 7 mosaicism" RELATED [GARD:0005354] xref: GARD:5354 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:1747", source="Orphanet:1747/attributed", source="Orphanet:1747/ntbt"} @@ -362965,7 +363036,7 @@ synonym: "8q trisomy" RELATED [GARD:0005362] synonym: "chromosome 8q duplication" RELATED [GARD:0005362] synonym: "Duplication 8q" EXACT [Orphanet:1752] synonym: "partial trisomy 8q" RELATED [GARD:0005362] -synonym: "trisomy type 8q" EXACT [MONDORULE:4, Orphanet:1752] +synonym: "trisomy type 8q" EXACT [MONDORULE:4] xref: GARD:5362 {source="MONDO:GARD"} xref: ICD10CM:Q92.2 {source="Orphanet:1752/attributed", source="Orphanet:1752/ntbt", source="Orphanet:1752"} xref: icd11.foundation:573390171 {source="Orphanet:1752", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -363048,7 +363119,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chondrodysplasia punctata, rhizomelic form" EXACT [DOID:2580] synonym: "RCDP" EXACT ABBREVIATION [Orphanet:177] -synonym: "rhizomelic chondrodysplasia punctata" EXACT CLINGEN_LABEL [] +synonym: "rhizomelic chondrodysplasia punctata" EXACT CLINGEN_LABEL [DOID:2580, ICD10CM:E71.540, icd11.foundation:260357080, NCIT:C85047, OMIMPS:215100, Orphanet:177] synonym: "rhizomelic chondrodysplasia punctata syndrome" EXACT [NCIT:C85047] synonym: "rhizomelic dwarfism" EXACT [NCIT:C85047] xref: DOID:2580 {source="MONDO:equivalentTo"} @@ -363078,7 +363149,7 @@ id: MONDO:0015777 name: obsolete adult hypothyroidism def: "OBSOLETE. A hypothyroidism that occurs in an adult." [MONDO:patterns/adult] subset: ordo_group_of_disorders {source="Orphanet:177101"} -synonym: "rare adult hypothyroidism" EXACT DEPRECATED [Orphanet:177101] +synonym: "rare adult hypothyroidism" EXACT DEPRECATED [] xref: Orphanet:177101 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -363144,11 +363215,11 @@ subset: orphanet_rare {source="Orphanet:1775"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DC" EXACT ABBREVIATION [Orphanet:1775] -synonym: "DKC" EXACT ABBREVIATION [GARD:0010905, Orphanet:1775] -synonym: "dyskeratosis congenita" EXACT CLINGEN_LABEL [] +synonym: "DKC" EXACT ABBREVIATION [GARD:0010905, NCIT:C111802, Orphanet:1775] +synonym: "dyskeratosis congenita" EXACT CLINGEN_LABEL [DOID:2729, icd11.foundation:1531033936, NCIT:C111802, OMIMPS:127550, Orphanet:1775] synonym: "Hoyeraal-Hreidarsson syndrome" RELATED [GARD:0010905] synonym: "Zinsser Cole Engman syndrome" RELATED [GARD:0002007] -synonym: "Zinsser-Engman-Cole syndrome" EXACT [GARD:0010905, Orphanet:1775] +synonym: "Zinsser-Engman-Cole syndrome" EXACT [GARD:0010905, NCIT:C111802, Orphanet:1775] xref: DOID:2729 {source="MONDO:equivalentTo"} xref: GARD:10905 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:1775", source="Orphanet:1775/index", source="Orphanet:1775/ntbt"} @@ -363351,7 +363422,7 @@ synonym: "CDI" EXACT ABBREVIATION [Orphanet:178029] synonym: "diabetes insipidus cranial type" RELATED [GARD:0006015] synonym: "diabetes insipidus neurogenic" RELATED [GARD:0006015] synonym: "diabetes insipidus neurohypophyseal" RELATED [GARD:0006015] -synonym: "neurogenic diabetes insipidus" EXACT [Orphanet:178029] +synonym: "neurogenic diabetes insipidus" EXACT [icd11.foundation:1009553897, Orphanet:178029] xref: DOID:0081055 {source="MONDO:equivalentTo"} xref: GARD:6015 {source="MONDO:GARD"} xref: HP:0000863 {source="MONDO:otherHierarchy"} @@ -363531,7 +363602,7 @@ subset: rare synonym: "IMT" EXACT ABBREVIATION [NCIT:C6481, ONCOTREE:IMT] synonym: "inflammatory fibrosarcoma" EXACT [GARD:0007146, NCIT:C6481] synonym: "inflammatory myofibroblastic neoplasm" EXACT [NCIT:C6481] -synonym: "inflammatory myofibroblastic tumor" EXACT [NCIT:C6481] +synonym: "inflammatory myofibroblastic tumor" EXACT [DOID:0050905, NCIT:C6481, Orphanet:178342] synonym: "inflammatory pseudotumor" EXACT [GARD:0007146, NCIT:C6481] xref: DOID:0050905 {source="MONDO:equivalentTo"} xref: GARD:7146 {source="MONDO:GARD"} @@ -363620,8 +363691,8 @@ subset: gard_rare {source="GARD:12107", source="MONDO:GARD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:178469"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant mental retardation" BROAD DEPRECATED [DOID:0060307] -synonym: "autosomal dominant non-syndromic intellectual disability" EXACT [DOID:0060307] +synonym: "autosomal dominant mental retardation" BROAD DEPRECATED [] +synonym: "autosomal dominant non-syndromic intellectual disability" EXACT [Orphanet:178469] synonym: "autosomal dominant non-syndromic mental retardation" EXACT DEPRECATED [DOID:0060307] synonym: "non-syndromic intellectual disability, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: DOID:0060307 {source="MONDO:equivalentTo"} @@ -363734,7 +363805,7 @@ subset: rare synonym: "adult intestinal colonisation botulism" EXACT OMO:0003005 [] synonym: "adult intestinal colonization botulism" EXACT [Orphanet:178487] synonym: "adult intestinal toxaemia botulism" EXACT OMO:0003005 [] -synonym: "adult intestinal toxemia botulism" EXACT [Orphanet:178487] +synonym: "adult intestinal toxemia botulism" EXACT [NCIT:C128344, Orphanet:178487] synonym: "adult intestinal toxin-mediated botulism" EXACT [Orphanet:178487] synonym: "infant-like botulism" EXACT [Orphanet:178487] synonym: "intestinal botulism of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] @@ -363757,7 +363828,7 @@ subset: gard_rare {source="GARD:20153", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "myopic maculopathy" EXACT [Orphanet:178493] +synonym: "myopic maculopathy" EXACT [] xref: EFO:0009201 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:20153 {source="MONDO:GARD"} xref: ICD10CM:H35.3 {source="MONDO:relatedTo", source="Orphanet:178493/ntbt", source="Orphanet:178493"} @@ -363784,8 +363855,8 @@ subset: rare synonym: "alopecia mucinosa (t cell lymphoma)" RELATED [] synonym: "follicular mucinosis type mycosis fungoides" EXACT [] synonym: "follicular mycosis fungoides" EXACT [NCIT:C35685] -synonym: "folliculotropic mycosis fungoides" EXACT [] -synonym: "mycosis fungoides-associated follicular mucinosis" EXACT [Orphanet:178512] +synonym: "folliculotropic mycosis fungoides" EXACT [icd11.foundation:1335995469, NCIT:C35685, Orphanet:178512] +synonym: "mycosis fungoides-associated follicular mucinosis" EXACT [NCIT:C35685, Orphanet:178512] xref: GARD:20154 {source="MONDO:GARD"} xref: ICD10CM:C84.0 {source="Orphanet:178512", source="Orphanet:178512/ntbt"} xref: icd11.foundation:1335995469 {source="MONDO:equivalentTo"} @@ -363893,11 +363964,11 @@ subset: ordo_disorder {source="Orphanet:178536"} subset: orphanet_rare {source="Orphanet:178536"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "C-MALT" EXACT [NCIT:C7230] +synonym: "C-MALT" EXACT ABBREVIATION [NCIT:C7230] synonym: "cutaneous Immunocytoma" EXACT [NCIT:C7230] synonym: "marginal zone B cell lymphoma of skin" EXACT [NCIT:C7230] synonym: "marginal zone B cell lymphoma of the skin" EXACT [NCIT:C7230] -synonym: "PCMZL" EXACT ABBREVIATION [Orphanet:178536] +synonym: "PCMZL" EXACT ABBREVIATION [NCIT:C7230, Orphanet:178536] synonym: "Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C7230] synonym: "Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C7230] synonym: "Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue" EXACT [NCIT:C7230] @@ -363924,8 +363995,8 @@ subset: orphanet_rare {source="Orphanet:178540"} subset: rare synonym: "Crosti's disease" EXACT [NCIT:C7217] synonym: "cutaneous follicle center lymphoma" EXACT [NCIT:C7217] -synonym: "cutaneous follicle centre lymphoma" EXACT OMO:0003005 [] -synonym: "PCFCL" EXACT ABBREVIATION [ONCOTREE:PCFCL, Orphanet:178540] +synonym: "cutaneous follicle centre lymphoma" EXACT OMO:0003005 [NCIT:C7217] +synonym: "PCFCL" EXACT ABBREVIATION [NCIT:C7217, ONCOTREE:PCFCL, Orphanet:178540] synonym: "Reticulohistiocytoma of the dorsum" EXACT [NCIT:C7217] xref: GARD:13701 {source="MONDO:GARD"} xref: ICD10CM:C82.6 {source="Orphanet:178540", source="Orphanet:178540/e"} @@ -364036,7 +364107,7 @@ def: "OBSOLETE. An instance of neutropenia that is acquired during the lifetime subset: ordo_group_of_disorders {source="Orphanet:178996"} subset: otar {source="MONDO:OTAR"} synonym: "acquired neutropenia" EXACT [MONDO:patterns/acquired] -synonym: "immunologic neutropenia" EXACT [Orphanet:178996] +synonym: "immunologic neutropenia" EXACT [] xref: icd11.foundation:348671706 {source="MONDO:obsoleteEquivalent", source="Orphanet:178996", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:178996 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -364135,7 +364206,7 @@ subset: orphanet_rare {source="Orphanet:18"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "classic RTA" EXACT [Orphanet:18] -synonym: "distal renal tubular acidosis" EXACT [MONDO:ambiguous] +synonym: "distal renal tubular acidosis" EXACT [MONDO:ambiguous, OMIMPS:179800, Orphanet:18] synonym: "distal renal tubular acidosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "dRTA" EXACT [Orphanet:18] synonym: "familial distal primary acidosis" EXACT [Orphanet:18] @@ -364188,9 +364259,9 @@ subset: disease_grouping subset: gard_rare {source="GARD:20172", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:180068"} subset: rare -synonym: "incomplete bilateral aplasia of the Mullerian ducts" EXACT [Orphanet:180068] +synonym: "incomplete bilateral aplasia of the Mullerian ducts" EXACT [] synonym: "incomplete bilateral aplasia of the Müllerian ducts" EXACT [Orphanet:180068] -synonym: "partial bilateral aplasia of the Müllerian ducts" RELATED [Orphanet:180068] +synonym: "partial bilateral aplasia of the Müllerian ducts" RELATED [] xref: GARD:20172 {source="MONDO:GARD"} xref: ICD10CM:Q51.8 {source="Orphanet:180068", source="Orphanet:180068/attributed", source="Orphanet:180068/ntbt"} xref: MEDGEN:1843187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -364206,7 +364277,7 @@ subset: gard_rare {source="GARD:20173", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:180071"} subset: rare synonym: "unicornuate uterus" EXACT [Orphanet:180071] -synonym: "unilateral aplasia of the Müllerian ducts" RELATED [Orphanet:180071] +synonym: "unilateral aplasia of the Müllerian ducts" RELATED [] xref: GARD:20173 {source="MONDO:GARD"} xref: ICD10CM:Q51.4 {source="Orphanet:180071", source="Orphanet:180071/e", source="Orphanet:180071/specific"} xref: MEDGEN:78600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -364224,11 +364295,11 @@ subset: ordo_disorder {source="Orphanet:180074"} subset: ordo_morphological_anomaly {source="Orphanet:180074"} subset: orphanet_rare {source="Orphanet:180074"} subset: rare -synonym: "complete unilateral aplasia of the Mullerian ducts" EXACT [Orphanet:180074] +synonym: "complete unilateral aplasia of the Mullerian ducts" EXACT [] synonym: "complete unilateral aplasia of the Müllerian ducts" EXACT [Orphanet:180074] -synonym: "complete unilateral Mullerian aplasia" EXACT [Orphanet:180074] +synonym: "complete unilateral Mullerian aplasia" EXACT [] synonym: "complete unilateral Müllerian aplasia" EXACT [Orphanet:180074] -synonym: "unicornuate uterus without rudimentary horn" EXACT [Orphanet:180074] +synonym: "unicornuate uterus without rudimentary horn" EXACT [icd11.foundation:113532659, Orphanet:180074] xref: GARD:20174 {source="MONDO:GARD"} xref: ICD10CM:Q51.4 {source="Orphanet:180074", source="Orphanet:180074/attributed", source="Orphanet:180074/ntbt"} xref: icd11.foundation:113532659 {source="MONDO:equivalentTo"} @@ -364245,9 +364316,9 @@ subset: ordo_disorder {source="Orphanet:180079"} subset: ordo_morphological_anomaly {source="Orphanet:180079"} subset: orphanet_rare {source="Orphanet:180079"} subset: rare -synonym: "incomplete unilateral aplasia of the Mullerian ducts" EXACT [Orphanet:180079] +synonym: "incomplete unilateral aplasia of the Mullerian ducts" EXACT [] synonym: "incomplete unilateral aplasia of the Müllerian ducts" EXACT [Orphanet:180079] -synonym: "incomplete unilateral Mullerian aplasia" EXACT [Orphanet:180079] +synonym: "incomplete unilateral Mullerian aplasia" EXACT [] synonym: "incomplete unilateral Müllerian aplasia" EXACT [Orphanet:180079] synonym: "unicornuate uterus with rudimentary horn" EXACT [Orphanet:180079] xref: GARD:20175 {source="MONDO:GARD"} @@ -364323,8 +364394,8 @@ is_obsolete: true id: MONDO:0015838 name: cordiform uterus subset: ordo_morphological_anomaly {source="Orphanet:180118"} -synonym: "uterus arcuatus" EXACT [Orphanet:180118] -synonym: "uterus cordiformis" EXACT [Orphanet:180118] +synonym: "uterus arcuatus" EXACT [] +synonym: "uterus cordiformis" EXACT [icd11.foundation:282476394] xref: ICD10CM:Q51.3 {source="Orphanet:180118", source="Orphanet:180118/ntbt"} xref: icd11.foundation:282476394 {source="MONDO:equivalentTo"} xref: MEDGEN:539891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -364610,7 +364681,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:180182"} subset: orphanet_rare {source="Orphanet:180182"} subset: rare synonym: "accessory breasts" EXACT [Orphanet:180182] -synonym: "polymastia" EXACT [Orphanet:180182] +synonym: "polymastia" EXACT [icd11.foundation:1458532658, Orphanet:180182] xref: GARD:20195 {source="MONDO:GARD"} xref: ICD10CM:Q83.1 {source="Orphanet:180182", source="Orphanet:180182/e"} xref: icd11.foundation:1458532658 {source="Orphanet:180182", source="MONDO:equivalentTo"} @@ -364703,7 +364774,7 @@ id: MONDO:0015861 name: obsolete rare uterine adnexal tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180220"} -synonym: "syn: Rare tumor of ovaries and fallopian tubes" EXACT [Orphanet:180220] +synonym: "syn: Rare tumor of ovaries and fallopian tubes" EXACT [] xref: Orphanet:180220 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -364748,10 +364819,10 @@ subset: rare synonym: "combined germ cell neoplasm" EXACT [NCIT:C4290] synonym: "combined germ cell tumor" EXACT [NCIT:C4290] synonym: "combined germ cell tumour" EXACT OMO:0003005 [] -synonym: "mixed germ cell cancer" EXACT [MONDO:0002600] -synonym: "mixed germ cell neoplasm" EXACT [NCIT:C4290] -synonym: "mixed germ cell tumor" EXACT [DOID:3306, NCIT:C4290] -synonym: "mixed teratoma and seminoma" RELATED EXCLUDE [DOID:3306] +synonym: "mixed germ cell cancer" EXACT [DOID:3306, MONDO:0002600] +synonym: "mixed germ cell neoplasm" EXACT [DOID:3306, NCIT:C4290] +synonym: "mixed germ cell tumor" EXACT [DOID:3306, NCIT:C4290, Orphanet:180234] +synonym: "mixed teratoma and seminoma" RELATED EXCLUDE [] xref: DOID:3306 {source="MONDO:equivalentTo"} xref: GARD:20202 {source="MONDO:GARD"} xref: ICDO:9085/3 {source="NCIT:C4290"} @@ -364788,16 +364859,16 @@ subset: ordo_disorder {source="Orphanet:180247"} subset: orphanet_rare {source="Orphanet:180247"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of the vagina" BROAD [NCIT:C3917] -synonym: "cancer of vagina" BROAD [NCIT:C3917] +synonym: "cancer of the vagina" BROAD [] +synonym: "cancer of vagina" BROAD [] synonym: "carcinoma of the vagina" EXACT [NCIT:C3917] synonym: "carcinoma of vagina" EXACT [MONDO:patterns/carcinoma, NCIT:C3917] -synonym: "vagina cancer" BROAD [NCIT:C3917] +synonym: "vagina cancer" BROAD [] synonym: "vagina carcinoma" EXACT [MONDO:patterns/location, NCIT:C3917] -synonym: "vaginal cancer" BROAD [NCIT:C3917] -synonym: "vaginal cancer, NOS" BROAD [NCIT:C3917] -synonym: "vaginal carcinoma" EXACT [NCIT:C3917] -synonym: "vaginal malignant epithelial tumor" BROAD [Orphanet:180247] +synonym: "vaginal cancer" BROAD [] +synonym: "vaginal cancer, NOS" BROAD [] +synonym: "vaginal carcinoma" EXACT [DOID:0050918, NCIT:C3917, Orphanet:180247] +synonym: "vaginal malignant epithelial tumor" BROAD [] synonym: "vaginal malignant epithelial tumour" BROAD OMO:0003005 [] xref: DOID:0050918 {source="MONDO:equivalentTo"} xref: GARD:9348 {source="MONDO:GARD"} @@ -364843,7 +364914,7 @@ name: obsolete rare malignant breast tumor def: "OBSOLETE. Any of the forms of breast cancer that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180257"} -synonym: "rare breast cancer" EXACT [MONDO:patterns/rare, Orphanet:180257] +synonym: "rare breast cancer" EXACT [MONDO:patterns/rare] xref: Orphanet:180257 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -364857,31 +364928,31 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:180261"} subset: orphanet_rare {source="Orphanet:180261"} subset: rare -synonym: "benign breast phyllodes tumor" EXACT [NCIT:C5196] -synonym: "benign cystosarcoma phyllodes" RELATED [DOID:1631] -synonym: "benign phyllodes neoplasm" BROAD [DOID:1631, NCIT:C4274] +synonym: "benign breast phyllodes tumor" EXACT [DOID:1631, NCIT:C5196] +synonym: "benign cystosarcoma phyllodes" RELATED [] +synonym: "benign phyllodes neoplasm" BROAD [] synonym: "benign phyllodes neoplasm of breast" EXACT [NCIT:C5196] synonym: "benign phyllodes neoplasm of the breast" EXACT [DOID:1631, NCIT:C5196] synonym: "benign phyllodes tumor of breast" EXACT [NCIT:C5196] synonym: "benign phyllodes tumor of the breast" EXACT [NCIT:C5196] -synonym: "benign phyllodes tumour of breast" EXACT OMO:0003005 [] +synonym: "benign phyllodes tumour of breast" EXACT OMO:0003005 [icd11.foundation:827143668] synonym: "benign phyllodes tumour of the breast" EXACT OMO:0003005 [] synonym: "BPT" RELATED ABBREVIATION [ONCOTREE:BPT] synonym: "breast benign phyllodes neoplasm" EXACT [NCIT:C5196] synonym: "breast phyllodes tumor, benign" EXACT [MONDO:patterns/benign] -synonym: "cystosarcoma phyllode" RELATED [Orphanet:180261] -synonym: "cystosarcoma phyllode of the breast" EXACT [Orphanet:180261] -synonym: "cystosarcoma phyllodes" RELATED [DOID:1631] -synonym: "cystosarcoma phyllodes NOS (morphologic abnormality)" RELATED [DOID:1631] -synonym: "cystosarcoma phyllodes, NOS" RELATED EXCLUDE [DOID:1631] -synonym: "cystosarcoma phylloide" RELATED [Orphanet:180261] -synonym: "cystosarcoma phylloide of the breast" EXACT [Orphanet:180261] -synonym: "phyllode tumor of the breast" RELATED [Orphanet:180261] +synonym: "cystosarcoma phyllode" RELATED [] +synonym: "cystosarcoma phyllode of the breast" EXACT [] +synonym: "cystosarcoma phyllodes" RELATED [] +synonym: "cystosarcoma phyllodes NOS (morphologic abnormality)" RELATED [] +synonym: "cystosarcoma phyllodes, NOS" RELATED EXCLUDE [] +synonym: "cystosarcoma phylloide" RELATED [] +synonym: "cystosarcoma phylloide of the breast" EXACT [] +synonym: "phyllode tumor of the breast" RELATED [] synonym: "phyllode tumour of the breast" RELATED OMO:0003005 [] -synonym: "phyllodes neoplasm" BROAD [DOID:1631, NCIT:C2977] -synonym: "phyllodes tumor, benign" RELATED EXCLUDE [DOID:1631] -synonym: "phyllodes tumor, benign (morphologic abnormality)" BROAD [DOID:1631] -synonym: "phylloide tumor of the breast" EXACT [Orphanet:180261] +synonym: "phyllodes neoplasm" BROAD [] +synonym: "phyllodes tumor, benign" RELATED EXCLUDE [] +synonym: "phyllodes tumor, benign (morphologic abnormality)" BROAD [] +synonym: "phylloide tumor of the breast" EXACT [] synonym: "phylloide tumour of the breast" EXACT OMO:0003005 [] xref: DOID:1631 {source="MONDO:equivalentTo"} xref: ICD10CM:D48.6 {source="DOID:1631", source="Orphanet:180261", source="Orphanet:180261/ntbt"} @@ -364924,10 +364995,10 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1544"} subset: ordo_disorder {source="Orphanet:180275"} subset: orphanet_rare {source="Orphanet:180275"} subset: rare -synonym: "mammary Paget disease" BROAD [Orphanet:180275] +synonym: "mammary Paget disease" BROAD [] synonym: "nipple Paget's disease" EXACT [NCIT:C3301] -synonym: "Paget disease of the breast" BROAD [Orphanet:180275] -synonym: "Paget disease of the nipple" EXACT [NCIT:C3301] +synonym: "Paget disease of the breast" BROAD [] +synonym: "Paget disease of the nipple" EXACT [NCIT:C3301, Orphanet:180275] synonym: "Paget's disease of nipple" EXACT [NCIT:C3301] synonym: "Paget's Disease of the Breast" EXACT [NORD:1544] synonym: "Paget's disease of the nipple" EXACT [NCIT:C3301, Orphanet:180275] @@ -365032,7 +365103,7 @@ def: "OBSOLETE. A tumor involving the gastroesophageal tissue." [MONDO:patterns/ comment: Reason for obsoletion: Ideally, we'd have tumor types linked to Uberon terms, but Uberon only has UBERON:0007650 esophagogastric junction. An Uberon term for this does not exist. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:180821"} -synonym: "rare gastroesophageal tumor" EXACT [Orphanet:180821] +synonym: "rare gastroesophageal tumor" EXACT [] xref: Orphanet:180821 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1760" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365047,7 +365118,7 @@ subset: ordo_group_of_disorders {source="Orphanet:180824"} synonym: "rare pancreas neoplasm" EXACT [] synonym: "rare pancreas tumor" EXACT [] synonym: "rare pancreatic neoplasm" EXACT [MONDO:patterns/rare] -synonym: "rare pancreatic tumor" EXACT [Orphanet:180824] +synonym: "rare pancreatic tumor" EXACT [] xref: MedDRA:10061902 {source="Orphanet:180824", source="Orphanet:180824/e"} xref: Orphanet:180824 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365065,7 +365136,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1809"} subset: orphanet_rare {source="Orphanet:1809"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectodermal dysplasia with skin anomalies and intellectual disability" EXACT [Orphanet:1809] +synonym: "ectodermal dysplasia with skin anomalies and intellectual disability" EXACT [] synonym: "Halal Setton Wang syndrome" RELATED [GARD:0000280] synonym: "Halal-Setton-Wang syndrome" EXACT [Orphanet:1809] synonym: "hidrotic ectodermal dysplasia Halal type" RELATED [GARD:0000280] @@ -365090,7 +365161,7 @@ subset: ordo_etiological_subtype {source="Orphanet:1810"} subset: ordo_subtype_of_a_disorder {source="Orphanet:1810"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AD-HED" EXACT [Orphanet:1810] +synonym: "AD-HED" EXACT ABBREVIATION [Orphanet:1810] synonym: "autosomal dominant anhidrotic ectodermal dysplasia" EXACT [Orphanet:1810] synonym: "hypohidrotic ectodermal dysplasia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:2048 {source="MONDO:GARD"} @@ -365109,7 +365180,7 @@ name: obsolete rare insulin-resistance syndrome def: "OBSOLETE. A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome." [NCIT:C113169] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181368"} -synonym: "insulin Resistance syndrome" EXACT [NCIT:C113169] +synonym: "insulin Resistance syndrome" EXACT [] xref: NCIT:C113169 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:181368 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -365123,7 +365194,7 @@ name: obsolete rare diabetes mellitus type 1 def: "OBSOLETE. Any of the forms of type 1 diabetes mellitus that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181371"} -synonym: "rare insulin-dependent diabetes mellitus" EXACT [Orphanet:181371] +synonym: "rare insulin-dependent diabetes mellitus" EXACT [] synonym: "rare type 1 diabetes mellitus" EXACT [MONDO:patterns/rare] xref: Orphanet:181371 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365135,7 +365206,7 @@ id: MONDO:0015887 name: obsolete rare diabetes mellitus type 2 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181376"} -synonym: "rare insulin-independent diabetes mellitus" EXACT [Orphanet:181376] +synonym: "rare insulin-independent diabetes mellitus" EXACT [] xref: Orphanet:181376 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365168,8 +365239,8 @@ id: MONDO:0015890 name: obsolete rare disorder with congenital hypogonadotropic hypogonadism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181387"} -synonym: "rare disorder with hypogonadotropic hypogonadism" RELATED [Orphanet:181387] -synonym: "rare disorder with secondary hypogonadism" EXACT [Orphanet:181387] +synonym: "rare disorder with hypogonadotropic hypogonadism" RELATED [] +synonym: "rare disorder with secondary hypogonadism" EXACT [] xref: Orphanet:181387 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365297,7 +365368,7 @@ subset: ordo_group_of_disorders {source="Orphanet:181412"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adrenogenital disorder" EXACT [] -synonym: "adrenogenital syndrome" EXACT [] +synonym: "adrenogenital syndrome" EXACT [icd11.foundation:131153029, Orphanet:181412] synonym: "androgenital syndrome" EXACT [] synonym: "congenital adrenal hyperplasia" RELATED [Wikipedia:Congenital_adrenal_hyperplasia] xref: GARD:20226 {source="MONDO:GARD"} @@ -365321,7 +365392,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181415"} synonym: "rare Conn syndrome" EXACT [] synonym: "rare Conn's syndrome" EXACT [] -synonym: "rare primary aldosteronism" EXACT [MONDO:patterns/rare, Orphanet:181415] +synonym: "rare primary aldosteronism" EXACT [MONDO:patterns/rare] xref: ICD10CM:E26.0 {source="Orphanet:181415", source="Orphanet:181415/ntbt"} xref: Orphanet:181415 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -365355,7 +365426,7 @@ id: MONDO:0015901 name: obsolete rare inherited hyperlipidemia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181422"} -synonym: "rare hyperlipidemia" RELATED [Orphanet:181422] +synonym: "rare hyperlipidemia" RELATED [] xref: ICD10CM:E78.0 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"} xref: ICD10CM:E78.1 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"} xref: ICD10CM:E78.2 {source="Orphanet:181422/specific", source="Orphanet:181422/btnt", source="Orphanet:181422"} @@ -365424,7 +365495,7 @@ subset: rare synonym: "complex dyslipidaemia" EXACT OMO:0003005 [] synonym: "complex dyslipidemia" EXACT [] synonym: "rare syndromic dyslipidaemia" RELATED OMO:0003005 [] -synonym: "rare syndromic dyslipidemia" RELATED [Orphanet:181437] +synonym: "rare syndromic dyslipidemia" RELATED [] synonym: "syndrome associated with inherited lipid metabolism disorder" EXACT [MONDO:patterns/syndromic] synonym: "syndromic inherited lipid metabolism disorder" EXACT [MONDO:patterns/syndromic] xref: GARD:20232 {source="MONDO:GARD"} @@ -365441,7 +365512,7 @@ id: MONDO:0015906 name: obsolete rare disorder with hypergonadotropic hypogonadism subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:181441"} -synonym: "rare disorder with primary hypogonadism" EXACT [Orphanet:181441] +synonym: "rare disorder with primary hypogonadism" EXACT [] xref: Orphanet:181441 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -365476,10 +365547,10 @@ subset: orphanet_rare {source="Orphanet:182"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Chromoblastomycoses" RELATED [MESH:D002862] -synonym: "chromoblastomycosis" EXACT [MONDO:0005702, Orphanet:182] +synonym: "chromoblastomycosis" EXACT [DOID:1562, icd11.foundation:1438584733, MONDO:0005702, Orphanet:182] synonym: "Chromomycoses" RELATED [MESH:D002862] -synonym: "Chromomycosis" EXACT [DOID:1562] -synonym: "chromomycosis" EXACT [MESH:D002862] +synonym: "Chromomycosis" EXACT [DOID:1562, icd11.foundation:1438584733, Orphanet:182] +synonym: "chromomycosis" EXACT [DOID:1562, icd11.foundation:1438584733, MESH:D002862, Orphanet:182] synonym: "dermatitis Verrucosa" RELATED [MESH:D002862] synonym: "mossy foot disease" EXACT [DOID:1562] xref: DOID:1562 {source="EFO:0007207", source="MONDO:equivalentTo"} @@ -365565,7 +365636,7 @@ name: obsolete rare acquired hemolytic anemia def: "OBSOLETE. Hemolytic anemia, the cause of which is not present at birth." [NCIT:C34377] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182047"} -synonym: "Acquired hemolytic Anemia" EXACT [NCIT:C34377] +synonym: "Acquired hemolytic Anemia" EXACT [] xref: ICD10CM:D59.0 {source="MONDO:relatedTo", source="Orphanet:182047/btnt", source="Orphanet:182047"} xref: ICD10CM:D59.1 {source="Orphanet:182047/btnt", source="Orphanet:182047"} xref: ICD10CM:D59.2 {source="Orphanet:182047/btnt", source="Orphanet:182047"} @@ -365593,38 +365664,38 @@ subset: ordo_disorder {source="Orphanet:182050"} subset: orphanet_rare {source="Orphanet:182050"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alport syndrome with macrothrombocytopenia" RELATED [OMIM:153640] -synonym: "Alport syndrome with macrothrombocytopenia, formerly" RELATED [OMIM:153640] -synonym: "bleeding disorder, Platelet-type, 6" RELATED [OMIM:155100] +synonym: "Alport syndrome with macrothrombocytopenia" RELATED [] +synonym: "Alport syndrome with macrothrombocytopenia, formerly" RELATED [] +synonym: "bleeding disorder, Platelet-type, 6" RELATED [] synonym: "Brodie Chole griffin syndrome" RELATED [GARD:0000179] synonym: "Brodie Chole gryphon syndrome" RELATED OMO:0003005 [] -synonym: "Dohle leukocyte inclusions with giant platelets" RELATED [OMIM:155100] -synonym: "Epstein syndrome" EXACT [GARD:0000180, OMIM:153650] -synonym: "Fechtner syndrome" EXACT [GARD:0000180, MONDO:Lexical, OMIM:153640] -synonym: "FTNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:153640] +synonym: "Dohle leukocyte inclusions with giant platelets" RELATED [] +synonym: "Epstein syndrome" EXACT [GARD:0000180, OMIM:155100] +synonym: "Fechtner syndrome" EXACT [GARD:0000180, MONDO:Lexical, OMIM:155100] +synonym: "FTNS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "giant platelet syndrome with thrombocytopenia" EXACT [OMIM:155100] -synonym: "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" EXACT CLINGEN_LABEL [OMIM:155100] -synonym: "macrothrombocytopenia and progressive sensorineural deafness" EXACT [OMIM:600208] +synonym: "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" EXACT CLINGEN_LABEL [NCIT:C158788, OMIM:155100] +synonym: "macrothrombocytopenia and progressive sensorineural deafness" EXACT [OMIM:155100] synonym: "macrothrombocytopenia progressive deafness" RELATED [GARD:0000179] -synonym: "macrothrombocytopenia with dispersed leukocytic inclusions" RELATED [OMIM:605249] -synonym: "macrothrombocytopenia with leukocyte inclusions" RELATED [OMIM:155100] -synonym: "macrothrombocytopenia, nephritis, and deafness" RELATED [OMIM:153650] -synonym: "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions" RELATED [OMIM:153640] -synonym: "matins" RELATED [OMIM:155100] -synonym: "May-Hegglin anomaly" EXACT [GARD:0000180, MONDO:Lexical, OMIM:155100] -synonym: "May-Hegglin thrombocytopenia" RELATED [Orphanet:850] -synonym: "MHA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:155100] -synonym: "MYH-9 related disease" EXACT [Orphanet:182050] +synonym: "macrothrombocytopenia with dispersed leukocytic inclusions" RELATED [] +synonym: "macrothrombocytopenia with leukocyte inclusions" RELATED [] +synonym: "macrothrombocytopenia, nephritis, and deafness" RELATED [] +synonym: "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions" RELATED [] +synonym: "matins" RELATED [] +synonym: "May-Hegglin anomaly" EXACT [GARD:0000180, MONDO:Lexical, NCIT:C131646, OMIM:155100] +synonym: "May-Hegglin thrombocytopenia" RELATED [] +synonym: "MHA" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "MYH-9 related disease" EXACT [DOID:0060651] synonym: "MYH9 related disorders" RELATED [GARD:0000180] synonym: "MYH9 related thrombocytopenia" RELATED [GARD:0000180] -synonym: "MYH9-RD" EXACT [Orphanet:182050] +synonym: "MYH9-RD" EXACT ABBREVIATION [Orphanet:182050] synonym: "MYH9-related disease" EXACT [Orphanet:182050] synonym: "MYH9-related disorder" EXACT [Orphanet:182050] synonym: "MYH9-related syndrome" EXACT [Orphanet:182050] synonym: "MYH9-related syndromic thrombocytopenia" EXACT [Orphanet:182050] -synonym: "SBS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605249] -synonym: "Sebastian platelet syndrome" EXACT [GARD:0000180, OMIM:605249] -synonym: "Sebastian syndrome" EXACT [GARD:0000180, MONDO:Lexical, OMIM:605249] +synonym: "SBS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Sebastian platelet syndrome" EXACT [GARD:0000180, OMIM:155100] +synonym: "Sebastian syndrome" EXACT [GARD:0000180, MONDO:Lexical, OMIM:155100] xref: DOID:0060651 {source="MONDO:equivalentTo"} xref: EFO:0009646 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:180 {source="MONDO:GARD"} @@ -365781,7 +365852,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:182086"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired peripheral neuropathy" EXACT [MONDO:patterns/acquired] +synonym: "acquired peripheral neuropathy" EXACT [MONDO:patterns/acquired, Orphanet:182086] xref: GARD:20243 {source="MONDO:GARD"} xref: MEDGEN:1842976 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:182086 {source="MONDO:equivalentTo"} @@ -365805,7 +365876,7 @@ synonym: "idiopathic pulmonary hypertension" RELATED [GARD:0007501] synonym: "PAH" EXACT ABBREVIATION [Orphanet:182090] synonym: "PAH with overt features of venous/capillaries involvement" NARROW [PMID:30545973] synonym: "PPH" RELATED ABBREVIATION [GARD:0007501] -synonym: "pulmonary arterial hypertension" EXACT CLINGEN_LABEL [] +synonym: "pulmonary arterial hypertension" EXACT CLINGEN_LABEL [icd11.foundation:1931148955, Orphanet:182090] synonym: "PVOD/PCH" NARROW ABBREVIATION [PMID:30545973] xref: EFO:0001361 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7501 {source="MONDO:GARD"} @@ -365834,7 +365905,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182095"} subset: otar {source="MONDO:OTAR"} synonym: "ILD" EXACT ABBREVIATION [DOID:3082, Orphanet:182095] -synonym: "interstitial lung disease" EXACT [MONDO:0005370] +synonym: "interstitial lung disease" EXACT [DOID:3082, MONDO:0005370, NCIT:C164315, Orphanet:182095] xref: DOID:3082 {source="EFO:0004244", source="MONDO:equivalentTo"} xref: EFO:0004244 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:J80-J84 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -365906,8 +365977,8 @@ id: MONDO:0015928 name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:182104"} -synonym: "CTD-ILD" EXACT [Orphanet:182104] -synonym: "secondary ILD in childhood and adulthood associated with a connective tissue disease" EXACT [Orphanet:182104] +synonym: "CTD-ILD" EXACT [] +synonym: "secondary ILD in childhood and adulthood associated with a connective tissue disease" EXACT [] xref: Orphanet:182104 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -366018,7 +366089,7 @@ def: "OBSOLETE. A rare tumor that involves the endocrine gland." [MONDO:patterns subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:182130"} synonym: "endocrine gland rare tumor" EXACT [MONDO:patterns/location] -synonym: "tumor of endocrine glands" RELATED [Orphanet:182130] +synonym: "tumor of endocrine glands" RELATED [] xref: MedDRA:10061121 {source="Orphanet:182130", source="Orphanet:182130/e"} xref: Orphanet:182130 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -366107,8 +366178,8 @@ subset: orphanet_rare {source="Orphanet:1826"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "FMD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:305620] -synonym: "frontometaphyseal dysplasia" EXACT [MONDO:Lexical, OMIM:305620] +synonym: "FMD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "frontometaphyseal dysplasia" EXACT [DOID:0111785, icd11.foundation:1767187670, MONDO:Lexical, OMIMPS:305620, Orphanet:1826] xref: DOID:0111785 {source="MONDO:equivalentTo"} xref: GARD:826 {source="MONDO:GARD"} xref: ICD10CM:Q78.5 {source="Orphanet:1826/attributed", source="Orphanet:1826/ntbt", source="Orphanet:1826"} @@ -366145,7 +366216,7 @@ synonym: "allergic granulomatosis" EXACT [MESH:D015267, NCIT:C34481] synonym: "allergic granulomatosis angiitis" EXACT [DOID:3049] synonym: "allergic granulomatous and angiitis" EXACT [MESH:D015267] synonym: "allergic granulomatous Angiitides" EXACT [MESH:D015267] -synonym: "allergic granulomatous angiitis" EXACT [DOID:3049, MESH:D015267, NCIT:C34481] +synonym: "allergic granulomatous angiitis" EXACT [DOID:3049, icd11.foundation:835880885, MESH:D015267, NCIT:C34481] synonym: "angiitides, allergic" EXACT [MESH:D015267] synonym: "angiitides, allergic granulomatous" EXACT [MESH:D015267] synonym: "angiitides, granulomatous allergic" EXACT [MESH:D015267] @@ -366154,10 +366225,10 @@ synonym: "angiitis, allergic granulomatous" EXACT [MESH:D015267] synonym: "angiitis, granulomatous allergic" EXACT [MESH:D015267] synonym: "Churg Strauss Syndrome" EXACT [NORD:973] synonym: "Churg Strauss syndrome" EXACT [MESH:D015267] -synonym: "Churg-Strauss syndrome" EXACT [MONDO:0005703, NCIT:C34481, Orphanet:183] -synonym: "Churg-Strauss vasculitis" EXACT [DOID:3049, MESH:D015267] +synonym: "Churg-Strauss syndrome" EXACT [DOID:3049, icd11.foundation:835880885, MONDO:0005703, NCIT:C34481, Orphanet:183] +synonym: "Churg-Strauss vasculitis" EXACT [DOID:3049, icd11.foundation:835880885, MESH:D015267] synonym: "CSS" EXACT ABBREVIATION [https://orcid.org/0000-0002-8719-7760] -synonym: "EGPA" EXACT ABBREVIATION [Orphanet:183] +synonym: "EGPA" EXACT ABBREVIATION [NCIT:C34481, Orphanet:183] synonym: "eosinophilic granulomatous Vasculitides" EXACT [MESH:D015267] synonym: "eosinophilic granulomatous vasculitis" EXACT [MESH:D015267] synonym: "granulomatoses, allergic" EXACT [MESH:D015267] @@ -366247,7 +366318,7 @@ id: MONDO:0015946 name: obsolete rare genetic epidermal disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183426"} -synonym: "genetic epidermal disorder" RELATED [Orphanet:183426] +synonym: "genetic epidermal disorder" RELATED [] xref: Orphanet:183426 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366292,7 +366363,7 @@ id: MONDO:0015948 name: obsolete rare genetic skin vascular disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183478"} -synonym: "genetic skin vascular disorder" RELATED [Orphanet:183478] +synonym: "genetic skin vascular disorder" RELATED [] xref: Orphanet:183478 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366303,7 +366374,7 @@ id: MONDO:0015949 name: obsolete rare genetic subcutaneous tissue disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183484"} -synonym: "genetic subcutaneous tissue disorder" RELATED [Orphanet:183484] +synonym: "genetic subcutaneous tissue disorder" RELATED [] xref: Orphanet:183484 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366313,7 +366384,7 @@ replaced_by: MONDO:0000001 id: MONDO:0015950 name: obsolete inherited skin tumor subset: ordo_group_of_disorders {source="Orphanet:183487"} -synonym: "genetic skin tumor" RELATED [Orphanet:183487] +synonym: "genetic skin tumor" RELATED [] synonym: "genetic skin tumour" RELATED OMO:0003005 [] xref: Orphanet:183487 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -366335,8 +366406,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "genetic photosensitivity" EXACT [] synonym: "genetic skin photosensitivity" EXACT [Orphanet:183490] -synonym: "photogenodermatosis" BROAD [Orphanet:183490] -synonym: "photogénodermatose" BROAD [Orphanet:183490] +synonym: "photogenodermatosis" BROAD [] +synonym: "photogénodermatose" BROAD [] xref: GARD:20277 {source="MONDO:GARD"} xref: MEDGEN:1842494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:183490 {source="MONDO:equivalentTo"} @@ -366366,7 +366437,7 @@ id: MONDO:0015954 name: obsolete rare genetic headache disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183509"} -synonym: "rare genetic headache" EXACT [Orphanet:183509] +synonym: "rare genetic headache" EXACT [] xref: Orphanet:183509 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -366420,7 +366491,7 @@ id: MONDO:0015959 name: obsolete inherited syndrome with bone tumors as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183527"} -synonym: "genetic bone tumor" RELATED [Orphanet:183527] +synonym: "genetic bone tumor" RELATED [] xref: Orphanet:183527 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/projects/6" xsd:anyURI @@ -366441,7 +366512,7 @@ replaced_by: MONDO:0021147 id: MONDO:0015961 name: obsolete hereditary head and neck malformation subset: ordo_group_of_disorders {source="Orphanet:183583"} -synonym: "genetic head and neck malformation" EXACT [Orphanet:183583] +synonym: "genetic head and neck malformation" EXACT [] xref: ICD10CM:Q10-Q18 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:183583 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -366456,7 +366527,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20306", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:183592"} subset: rare -synonym: "genetic renal tubular disease" RELATED [Orphanet:183592] +synonym: "genetic renal tubular disease" RELATED [] xref: GARD:20306 {source="MONDO:GARD"} xref: MEDGEN:1826140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:183592 {source="MONDO:equivalentTo"} @@ -366471,7 +366542,7 @@ id: MONDO:0015963 name: obsolete inherited renal tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183595"} -synonym: "genetic renal tumor" RELATED [Orphanet:183595] +synonym: "genetic renal tumor" RELATED [] xref: Orphanet:183595 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -366500,7 +366571,7 @@ id: MONDO:0015966 name: obsolete hereditary eye tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183619"} -synonym: "genetic eye tumor" RELATED [Orphanet:183619] +synonym: "genetic eye tumor" RELATED [] xref: Orphanet:183619 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -366514,8 +366585,8 @@ subset: inferred_rare subset: ordo_group_of_disorders {source="Orphanet:183625"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "monogenic diabetes" EXACT CLINGEN_LABEL [] -synonym: "rare genetic diabetes mellitus" EXACT [] +synonym: "monogenic diabetes" EXACT CLINGEN_LABEL [NCIT:C129739] +synonym: "rare genetic diabetes mellitus" EXACT [Orphanet:183625] xref: EFO:1001511 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1392102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C129739 {source="MONDO:equivalentTo"} @@ -366603,9 +366674,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "combined T and B cell inborn immunodeficiency" EXACT [DOID:627] synonym: "SCID" EXACT ABBREVIATION [DOID:627, NCIT:C3472, Orphanet:183660] -synonym: "severe combined immunodeficiency" EXACT CLINGEN_LABEL [MONDO:ambiguous, NCIT:C3472] +synonym: "severe combined immunodeficiency" EXACT CLINGEN_LABEL [DOID:627, MONDO:ambiguous, NCIT:C3472, Orphanet:183660] synonym: "severe combined immunodeficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0003833] -synonym: "severe combined immunodeficiency disease" EXACT [NCIT:C3472] +synonym: "severe combined immunodeficiency disease" EXACT [icd11.foundation:963193284] xref: DOID:627 {source="MONDO:equivalentTo"} xref: GARD:7628 {source="MONDO:GARD"} xref: HP:0004430 {source="MONDO:otherHierarchy"} @@ -366632,7 +366703,7 @@ property_value: IAO:0000589 "severe combined immunodeficiency (disease)" xsd:str id: MONDO:0015975 name: obsolete hyper-IgM syndrome with susceptibility to opportunistic infections subset: ordo_disorder {source="Orphanet:183663"} -synonym: "HIGM with susceptibility to opportunistic infections" EXACT [Orphanet:183663] +synonym: "HIGM with susceptibility to opportunistic infections" EXACT [] xref: ICD10CM:D80.5 {source="Orphanet:183663", source="Orphanet:183663/attributed", source="Orphanet:183663/ntbt"} xref: Orphanet:183663 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0018814 {source="Orphanet:183663", source="https://orcid.org/0000-0001-5208-3432"} ! non-SCID combined immunodeficiency @@ -366647,7 +366718,7 @@ is_obsolete: true id: MONDO:0015976 name: obsolete hyper-IgM syndrome without susceptibility to opportunistic infections subset: ordo_disorder {source="Orphanet:183666"} -synonym: "HIGM without susceptibility to opportunistic infections" EXACT [Orphanet:183666] +synonym: "HIGM without susceptibility to opportunistic infections" EXACT [] xref: ICD10CM:D80.5 {source="Orphanet:183666/attributed", source="Orphanet:183666/ntbt", source="Orphanet:183666"} xref: Orphanet:183666 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -366667,10 +366738,10 @@ subset: gard_rare {source="GARD:20320", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:183669"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "agammaglobulinemia" EXACT CLINGEN_LABEL [] +synonym: "agammaglobulinemia" EXACT CLINGEN_LABEL [DOID:2583, OMIMPS:601495, Orphanet:183669] synonym: "antibody Deficiency" RELATED [GARD:0007455] synonym: "Gammaglobulin Deficiency" RELATED [GARD:0007455] -synonym: "hypogammaglobulinemia" EXACT [DOID:2583, NCIT:C26931] +synonym: "hypogammaglobulinemia" EXACT [DOID:2583] synonym: "IGHM" EXACT ABBREVIATION [DOID:2583] synonym: "Immunoglobulin Deficiency" RELATED [GARD:0007455] synonym: "mu heavy chain deficiency" EXACT [DOID:2583] @@ -366721,7 +366792,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0015979 name: obsolete hereditary predisposition to infections subset: ordo_group_of_disorders {source="Orphanet:183710"} -synonym: "genetic susceptibility to infections due to particular pathogens" EXACT [Orphanet:183710] +synonym: "genetic susceptibility to infections due to particular pathogens" EXACT [] xref: ICD10CM:D84.8 {source="Orphanet:183710/attributed", source="Orphanet:183710/ntbt", source="Orphanet:183710"} xref: Orphanet:183710 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015135 {source="Orphanet:183710", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete primary immunodeficiency due to a genetic defect in innate immunity @@ -366747,7 +366818,7 @@ id: MONDO:0015981 name: obsolete inherited gynecological tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:183734"} -synonym: "genetic gynecological tumor" EXACT [Orphanet:183734] +synonym: "genetic gynecological tumor" EXACT [] synonym: "rare genetic female reproductive system tumor" EXACT [https://orcid.org/0000-0002-6601-2165] xref: Orphanet:183734 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -366816,9 +366887,9 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1656"} subset: ordo_subtype_of_a_disorder {source="Orphanet:1848"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bilateral renal aplasia" RELATED [DOID:0080200] -synonym: "Renal Agenesis, Bilateral" EXACT [NORD:1656] -synonym: "renal agenesis, bilateral" RELATED [Orphanet:1848] +synonym: "bilateral renal aplasia" RELATED [] +synonym: "Renal Agenesis, Bilateral" EXACT [ICD10CM:Q60.1, NORD:1656, Orphanet:1848] +synonym: "renal agenesis, bilateral" RELATED [] xref: DOID:0080200 {source="MONDO:equivalentTo"} xref: GARD:16579 {source="MONDO:GARD"} xref: ICD10CM:Q60.1 {source="Orphanet:1848/e", source="Orphanet:1848/specific", source="MONDO:equivalentTo", source="Orphanet:1848"} @@ -366873,7 +366944,7 @@ subset: orphanet_rare {source="Orphanet:1851"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MCDK" EXACT ABBREVIATION [Orphanet:1851] -synonym: "multicystic renal dysplasia" EXACT [Orphanet:1851] +synonym: "multicystic renal dysplasia" EXACT [icd11.foundation:1178642763, Orphanet:1851] xref: GARD:18748 {source="MONDO:GARD"} xref: ICD10CM:Q61.4 {source="Orphanet:1851/ntbt", source="Orphanet:1851/inclusion", source="Orphanet:1851"} xref: icd11.foundation:1178642763 {source="Orphanet:1851", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -366926,8 +366997,8 @@ subset: gard_rare {source="GARD:16522", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:187"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ass deficiency" NARROW [DOID:9273] -synonym: "deficiency of citrulline-aspartate ligase" EXACT [DOID:9273] +synonym: "ass deficiency" NARROW [] +synonym: "deficiency of citrulline-aspartate ligase" EXACT [DOID:9273, icd11.foundation:640937125] xref: DOID:9273 {source="MONDO:equivalentTo"} xref: GARD:16522 {source="MONDO:GARD"} xref: ICD10CM:E72.2 {source="Orphanet:187/inclusion", source="Orphanet:187/ntbt", source="Orphanet:187"} @@ -366962,9 +367033,9 @@ subset: ordo_disorder {source="Orphanet:1872"} subset: orphanet_rare {source="Orphanet:1872"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cone rod dystrophy" RELATED [Orphanet:1872] +synonym: "cone rod dystrophy" RELATED [] synonym: "cone-rod retinal dystrophy" EXACT [DOID:0050572] -synonym: "CRD" EXACT ABBREVIATION [Orphanet:1872] +synonym: "CRD" EXACT ABBREVIATION [] xref: DOID:0050572 {source="MONDO:equivalentTo"} xref: GARD:10790 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:1872/attributed", source="Orphanet:1872/ntbt", source="DOID:0050572", source="MONDO:relatedTo", source="Orphanet:1872"} @@ -367053,7 +367124,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1885"} subset: orphanet_rare {source="Orphanet:1885"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital ectopic lens" RELATED [NCIT:C34566] +synonym: "congenital ectopic lens" RELATED [] synonym: "ectopia lentis syndrome" EXACT [Orphanet:1885] synonym: "familial ectopia lentis" EXACT [DOID:0111148, Orphanet:1885] synonym: "IEL" EXACT ABBREVIATION [DOID:0111148] @@ -367089,7 +367160,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "pigmented nodular adrenocortical disease" EXACT [MONDO:0000084] synonym: "pigmented nodular adrenocortical disease, primary" EXACT [OMIMPS:610489] -synonym: "PPNAD" EXACT ABBREVIATION [Orphanet:189439] +synonym: "PPNAD" EXACT ABBREVIATION [DOID:0060280, NCIT:C131196] synonym: "primary pigmented nodular adrenal dysplasia" EXACT [NCIT:C131196] xref: DOID:0060280 {source="MONDO:equivalentTo"} xref: GARD:10906 {source="MONDO:GARD"} @@ -367135,7 +367206,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "2-HGA" RELATED [MESH:C535306] synonym: "2-hydroxyglutaric acidemia" EXACT [Orphanet:19] -synonym: "2-hydroxyglutaric aciduria" EXACT [MESH:C535306] +synonym: "2-hydroxyglutaric aciduria" EXACT [DOID:0050573, MESH:C535306, NCIT:C128187, Orphanet:19] xref: DOID:0050573 {source="MONDO:equivalentTo"} xref: GARD:10761 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:19/attributed", source="Orphanet:19/ntbt", source="Orphanet:19"} @@ -367164,30 +367235,30 @@ subset: rare synonym: "EDS 6" EXACT [OMIM:225400] synonym: "EDS 6 (formerly)" RELATED [GARD:0002083] synonym: "EDS VI" RELATED [MESH:C536198] -synonym: "EDS VIA" NARROW [Orphanet:1900] -synonym: "EDS, kyphoscoliotic type" EXACT [Orphanet:1900] -synonym: "EDS, oculoscoliotic type" EXACT [Orphanet:1900] -synonym: "EDS6" EXACT ABBREVIATION [MESH:C536198, MONDO:Lexical, OMIM:225400] +synonym: "EDS VIA" NARROW [] +synonym: "EDS, kyphoscoliotic type" EXACT [] +synonym: "EDS, oculoscoliotic type" EXACT [] +synonym: "EDS6" EXACT ABBREVIATION [MESH:C536198, MONDO:Lexical] synonym: "EDS6A, formerly" RELATED [MESH:C536198] -synonym: "EDSKSCL1" RELATED ABBREVIATION [OMIM:225400] +synonym: "EDSKSCL1" RELATED ABBREVIATION [] synonym: "Ehlers-Danlos syndrome kyphoscoliotic type" EXACT [] synonym: "Ehlers-Danlos syndrome oculoscoliotic type" RELATED [GARD:0002083] synonym: "Ehlers-Danlos syndrome type 6 (formerly)" RELATED [GARD:0002083] -synonym: "Ehlers-Danlos syndrome type 6A" NARROW [Orphanet:1900] +synonym: "Ehlers-Danlos syndrome type 6A" NARROW [] synonym: "Ehlers-Danlos syndrome type 6A (formerly)" RELATED [GARD:0002083] synonym: "Ehlers-Danlos syndrome, kyphoscoliosis type" RELATED [GARD:0002083] -synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type" EXACT [MESH:C536198, OMIM:225400] +synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type" EXACT [MESH:C536198] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type 1" EXACT CLINGEN_LABEL [] -synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 1" RELATED [OMIM:225400] -synonym: "Ehlers-Danlos syndrome, ocular-scoliotic type" RELATED [MESH:C536198, OMIM:225400] -synonym: "Ehlers-Danlos syndrome, oculoscoliotic type" EXACT [Orphanet:1900] -synonym: "Ehlers-Danlos syndrome, type 6" EXACT [MESH:C536198, MONDO:0009160] +synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type, 1" RELATED [] +synonym: "Ehlers-Danlos syndrome, ocular-scoliotic type" RELATED [MESH:C536198] +synonym: "Ehlers-Danlos syndrome, oculoscoliotic type" EXACT [] +synonym: "Ehlers-Danlos syndrome, type 6" EXACT [MESH:C536198, MONDO:0009160, OMIM:225400] synonym: "Ehlers-Danlos syndrome, type 6 A" RELATED [MESH:C536198] -synonym: "Ehlers-Danlos syndrome, type VI" RELATED [MESH:C536198, MONDO:Lexical, OMIM:225400] +synonym: "Ehlers-Danlos syndrome, type VI" RELATED [MESH:C536198, MONDO:Lexical] synonym: "Ehlers-Danlos syndrome, type VIA" NARROW [MESH:C536198] -synonym: "Ehlers-Danlos syndrome, type Via" NARROW [OMIM:225400] +synonym: "Ehlers-Danlos syndrome, type Via" NARROW [] synonym: "Ehlers-Danlos syndrome, type VIA, formerly" NARROW [MESH:C536198] -synonym: "Ehlers-Danlos syndrome, type Via, formerly" NARROW [OMIM:225400] +synonym: "Ehlers-Danlos syndrome, type Via, formerly" NARROW [] synonym: "kEDS" RELATED [GARD:0002083] synonym: "kyphoscoliotic EDS" RELATED [GARD:0002083] synonym: "kyphoscoliotic Ehlers-Danlos syndrome" RELATED [GARD:0002083] @@ -367385,7 +367456,7 @@ subset: orphanet_rare {source="Orphanet:1912"} subset: rare synonym: "Dilantin embryopathy" RELATED [GARD:0006435] synonym: "fetal dihydantoin syndrome" EXACT [Orphanet:1912] -synonym: "FHS" EXACT [OMIM:617955] +synonym: "FHS" EXACT [] synonym: "foetal dihydantoin syndrome" EXACT OMO:0003005 [] synonym: "phenytoin embryofetopathy" EXACT [Orphanet:1912] synonym: "phenytoin embryopathy" RELATED [GARD:0006435] @@ -367452,11 +367523,11 @@ synonym: "fetal warfarin syndrome" EXACT [NCIT:C98906] synonym: "foetal anticoagulant syndrome" RELATED OMO:0003005 [] synonym: "foetal Coumadin syndrome" EXACT OMO:0003005 [] synonym: "foetal warfarin syndrome" EXACT OMO:0003005 [] -synonym: "vitamin K antagonist embryofetopathy" RELATED [Orphanet:1914] +synonym: "vitamin K antagonist embryofetopathy" RELATED [] synonym: "vitamin K antagonist embryopathy" EXACT [Orphanet:1914] synonym: "vitamin K antagonists embryofetopathy" RELATED [GARD:0008580] synonym: "vitamin K-antagonist embryofetopathy" EXACT [GARD:0008580] -synonym: "vitamin K-antagonist embryopathy" EXACT [Orphanet:1914] +synonym: "vitamin K-antagonist embryopathy" EXACT [] synonym: "warfarin embryofetopathy" EXACT [GARD:0008580, Orphanet:1914] synonym: "warfarin embryopathy" EXACT [GARD:0008580, Orphanet:1914] synonym: "warfarin syndrome" RELATED [GARD:0008580] @@ -367483,15 +367554,15 @@ subset: ordo_disorder {source="Orphanet:1915"} subset: ordo_malformation_syndrome {source="Orphanet:1915"} subset: orphanet_rare {source="Orphanet:1915"} subset: rare -synonym: "alcohol-related birth defects" RELATED [Orphanet:1915] -synonym: "alcohol-related neurodevelopmental disorder" EXACT [MONDO:0000394, Orphanet:1915] +synonym: "alcohol-related birth defects" RELATED [] +synonym: "alcohol-related neurodevelopmental disorder" EXACT [DOID:0050667, MONDO:0000394, Orphanet:1915] synonym: "ARBD" EXACT ABBREVIATION [Orphanet:1915] synonym: "ARND" EXACT ABBREVIATION [DOID:0050667, Orphanet:1915] -synonym: "FAS" EXACT ABBREVIATION [Orphanet:1915] -synonym: "FASD" BROAD ABBREVIATION [Orphanet:1915] -synonym: "fetal alcohol spectrum disorders" BROAD [Orphanet:1915] +synonym: "FAS" EXACT ABBREVIATION [NCIT:C84713, Orphanet:1915] +synonym: "FASD" BROAD ABBREVIATION [] +synonym: "fetal alcohol spectrum disorders" BROAD [] synonym: "foetal alcohol spectrum disorders" BROAD OMO:0003005 [] -synonym: "static encephalopathy" RELATED [DOID:0050667] +synonym: "static encephalopathy" RELATED [] xref: DOID:0050665 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0050667 {source="MONDO:equivalentTo"} xref: GARD:599 {source="MONDO:GARD"} @@ -367549,8 +367620,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1917"} subset: orphanet_rare {source="Orphanet:1917"} subset: rare synonym: "Methyl mercury antenatal exposure" RELATED [GARD:0003575] -synonym: "Methyl mercury antenatal infection" EXACT [Orphanet:1917] -synonym: "Minamata disease" RELATED [Orphanet:1917] +synonym: "Methyl mercury antenatal infection" EXACT [] +synonym: "Minamata disease" RELATED [] xref: GARD:3575 {source="MONDO:GARD"} xref: ICD10CM:T56.1 {source="Orphanet:1917", source="Orphanet:1917/ntbt"} xref: icd11.foundation:1975519045 {source="MONDO:equivalentTo"} @@ -367574,7 +367645,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1918"} subset: orphanet_rare {source="Orphanet:1918"} subset: rare synonym: "minoxidil antenatal exposure" RELATED [GARD:0002308] -synonym: "minoxidil antenatal infection" EXACT [Orphanet:1918] +synonym: "minoxidil antenatal infection" EXACT [] xref: GARD:2308 {source="MONDO:GARD"} xref: ICD10CM:Q86.8 {source="Orphanet:1918", source="Orphanet:1918/ntbt"} xref: icd11.foundation:4930572 {source="MONDO:equivalentTo"} @@ -367619,7 +367690,7 @@ subset: orphanet_rare {source="Orphanet:1920"} subset: rare synonym: "Hersh Podruch Weisskopk syndrome" RELATED [MESH:C538114] synonym: "microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency" RELATED [GARD:0002672] -synonym: "toluene embryopathy" EXACT [GARD:0002672, MESH:C538114] +synonym: "toluene embryopathy" EXACT [GARD:0002672, icd11.foundation:1446076607, MESH:C538114, Orphanet:1920] xref: GARD:18751 {source="MONDO:GARD"} xref: ICD10CM:Q86.8 {source="Orphanet:1920", source="Orphanet:1920/ntbt"} xref: icd11.foundation:1446076607 {source="MONDO:equivalentTo"} @@ -367643,7 +367714,7 @@ subset: rare synonym: "fetal methimazole syndrome" RELATED [GARD:0003573] synonym: "foetal methimazole syndrome" RELATED OMO:0003005 [] synonym: "Methimazole antenatal exposure" RELATED [GARD:0003573] -synonym: "methimazole embryofetopathy" EXACT [GARD:0003573] +synonym: "methimazole embryofetopathy" EXACT [GARD:0003573, icd11.foundation:1204409156, Orphanet:1923] synonym: "Methimazole/carbimazole embryofetopathy" EXACT [GARD:0003573, Orphanet:1923] synonym: "Methimazole/carbimazole embryopathy" EXACT [GARD:0003573, Orphanet:1923] synonym: "MMI/CMZ embryofetopathy" EXACT [Orphanet:1923] @@ -367693,7 +367764,7 @@ subset: orphanet_rare {source="Orphanet:1929"} subset: rare synonym: "CFE" EXACT ABBREVIATION [NCIT:C125384] synonym: "chronic focal encephalitis" EXACT [NCIT:C125384] -synonym: "Rasmussen Encephalitis" EXACT [NORD:1649] +synonym: "Rasmussen Encephalitis" EXACT [NCIT:C125384, NORD:1649] synonym: "Rasmussen encephalitis" EXACT [NCIT:C125384, NORD:1649] synonym: "Rasmussen syndrome" EXACT [Orphanet:1929] synonym: "Rasmussen’s encephalitis" EXACT [PMID:37498137] @@ -367759,7 +367830,7 @@ subset: ordo_disorder {source="Orphanet:1935"} subset: orphanet_rare {source="Orphanet:1935"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "early myoclonic encephalopathy" EXACT [MONDO:0002506] +synonym: "early myoclonic encephalopathy" EXACT [DOID:308, icd11.foundation:1877241469, MONDO:0002506, NCIT:C116593, Orphanet:1935] synonym: "early myoclonic encephalopathy with suppression-bursts" EXACT [Orphanet:1935] synonym: "EME" EXACT ABBREVIATION [NCIT:C116593] synonym: "epileptic seizures - myoclonic" EXACT [DOID:308] @@ -367826,13 +367897,13 @@ subset: ordo_disorder {source="Orphanet:1942"} subset: orphanet_rare {source="Orphanet:1942"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Doose syndrome" EXACT [GARD:0002169, Orphanet:1942] +synonym: "Doose syndrome" EXACT [GARD:0002169, icd11.foundation:951920505, Orphanet:1942] synonym: "EMAS" EXACT ABBREVIATION [Orphanet:1942] synonym: "epilepsy with myoclonic atonic seizures" EXACT [PMID:37498137] -synonym: "epilepsy with myoclonic-astatic seizures" EXACT [GARD:0002169, Orphanet:1942] +synonym: "epilepsy with myoclonic-astatic seizures" EXACT [GARD:0002169, icd11.foundation:951920505, Orphanet:1942] synonym: "epilepsy with myoclonic-atonic seizures" EXACT [Orphanet:1942] synonym: "epilepsy with myoclono-astatic crisis" RELATED [GARD:0002169] -synonym: "MAE" RELATED ABBREVIATION [Orphanet:1942] +synonym: "MAE" RELATED ABBREVIATION [] synonym: "myoclonic astatic epilepsy" RELATED [GARD:0002169] synonym: "myoclonic atonic epilepsy" EXACT [Orphanet:1942] synonym: "myoclonic-astatic epilepsy in early childhood" EXACT [Orphanet:1942] @@ -367887,8 +367958,8 @@ synonym: "benign familal neonatal seizures" EXACT [NCIT:C117307] synonym: "benign familial convulsion" EXACT [NCIT:C117307] synonym: "benign familial convulsions" EXACT [NCIT:C117307] synonym: "benign familial neonatal convulsions" EXACT [Orphanet:1949] -synonym: "benign familial neonatal epilepsy" EXACT [MONDO:0002016] -synonym: "benign familial neonatal seizures" EXACT [DOID:14264, Orphanet:1949] +synonym: "benign familial neonatal epilepsy" EXACT [DOID:14777, MONDO:0002016, Orphanet:1949] +synonym: "benign familial neonatal seizures" EXACT [DOID:14264, NCIT:C117307, Orphanet:1949] synonym: "benign neonatal convulsions" EXACT [DOID:14264] synonym: "BFNS" EXACT ABBREVIATION [Orphanet:1949] synonym: "familial neonatal seizures" EXACT [DOID:14777] @@ -367948,7 +368019,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:1957"} subset: orphanet_rare {source="Orphanet:1957"} subset: rare -synonym: "olfactory neuroblastoma" RELATED [Orphanet:1957] +synonym: "olfactory neuroblastoma" RELATED [] xref: GARD:2197 {source="MONDO:GARD"} xref: ICD10CM:C30.0 {source="Orphanet:1957/ntbt", source="Orphanet:1957"} xref: icd11.foundation:2007774165 {source="Orphanet:1957", source="https://orcid.org/0000-0002-4142-7153"} @@ -367971,7 +368042,7 @@ subset: rare synonym: "autoimmune hemolytic anaemia and autoimmune thrombocytopenia" EXACT OMO:0003005 [] synonym: "autoimmune hemolytic anemia and autoimmune thrombocytopenia" EXACT [Orphanet:1959] synonym: "Evan syndrome" RELATED [GARD:0006389] -synonym: "Evans' syndrome" EXACT [MONDO:0004683] +synonym: "Evans' syndrome" EXACT [DOID:8931, MONDO:0004683] synonym: "immune pancytopenia" EXACT [Orphanet:1959] xref: DOID:8931 {source="MONDO:equivalentTo"} xref: GARD:6389 {source="MONDO:GARD"} @@ -368027,8 +368098,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1987"} subset: orphanet_rare {source="Orphanet:1987"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital short femur" EXACT [Orphanet:1987] -synonym: "femoral intercalary meromelia" EXACT [Orphanet:1987] +synonym: "congenital short femur" EXACT [icd11.foundation:662157487] +synonym: "femoral intercalary meromelia" EXACT [] xref: GARD:1503 {source="MONDO:GARD"} xref: ICD10CM:Q72.4 {source="Orphanet:1987/specific", source="Orphanet:1987", source="Orphanet:1987/e"} xref: icd11.foundation:662157487 {source="MONDO:equivalentTo", source="Orphanet:1987", source="https://orcid.org/0000-0001-5208-3432"} @@ -368057,7 +368128,7 @@ subset: rare synonym: "Brachmann de Lange syndrome" EXACT [DOID:11725] synonym: "Brachmann-de Lange syndrome" EXACT [Orphanet:199] synonym: "CDLS" RELATED ABBREVIATION [GARD:0010109] -synonym: "Cornelia de Lange syndrome" EXACT CLINGEN_LABEL [] +synonym: "Cornelia de Lange syndrome" EXACT CLINGEN_LABEL [DOID:11725, icd11.foundation:1801560012, NCIT:C75016, OMIMPS:122470, Orphanet:199] synonym: "De Lange syndrome" EXACT [DOID:11725] xref: DOID:11725 {source="MONDO:equivalentTo"} xref: GARD:10109 {source="MONDO:GARD"} @@ -368092,7 +368163,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016034 name: obsolete cleft lip with or without cleft palate subset: ordo_group_of_disorders {source="Orphanet:1991"} -synonym: "Tessier cleft number 1,2" EXACT [Orphanet:1991] +synonym: "Tessier cleft number 1,2" EXACT [] xref: ICD10CM:Q36.0 {source="Orphanet:1991/btnt", source="Orphanet:1991"} xref: ICD10CM:Q36.1 {source="Orphanet:1991/btnt", source="Orphanet:1991"} xref: ICD10CM:Q36.9 {source="Orphanet:1991/btnt", source="Orphanet:1991"} @@ -368156,7 +368227,7 @@ def: "A poorly circumscribed, intermediate fibrocytic neoplasm arising from the subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:199257"} subset: otar {source="MONDO:OTAR"} -synonym: "superficial Fibromatosis" EXACT [MONDO:0006437, NCIT:C6814] +synonym: "superficial Fibromatosis" EXACT [MONDO:0006437, NCIT:C6814, Orphanet:199257] xref: EFO:1000556 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:M72.8 {source="Orphanet:199257/ntbt", source="Orphanet:199257"} xref: ICD9:729.99 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -368177,8 +368248,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:199260"} subset: orphanet_rare {source="Orphanet:199260"} subset: rare -synonym: "calcifying aponeurotic fibroma" RELATED [Orphanet:199260] -synonym: "Juvenile aponeurotic fibroma" EXACT [NCIT:C4818] +synonym: "calcifying aponeurotic fibroma" RELATED [] +synonym: "Juvenile aponeurotic fibroma" EXACT [] synonym: "juvenile aponeurotic fibromatosis" EXACT [Orphanet:199260] synonym: "Juvenile aponeurotic fibrosis" EXACT [NCIT:C4818] synonym: "Keasby tumor" EXACT [Orphanet:199260] @@ -368208,12 +368279,12 @@ synonym: "IDF" RELATED ABBREVIATION [GARD:0008487] synonym: "inclusion body fibromatosis" EXACT [MONDO:ambiguous, NCIT:C3456, Orphanet:199267] synonym: "inclusion body fibromatosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "infantile digital fibroma/fibromatosis" EXACT [NCIT:C3456] -synonym: "infantile digital fibromatosis" EXACT [NCIT:C3456] +synonym: "infantile digital fibromatosis" EXACT [NCIT:C3456, Orphanet:199267] synonym: "recurring digital fibrous tumor of childhood" EXACT [Orphanet:199267] synonym: "recurring digital fibrous tumour of childhood" EXACT OMO:0003005 [] -synonym: "Reye tumor" EXACT [NCIT:C3456] +synonym: "Reye tumor" EXACT [NCIT:C3456, Orphanet:199267] synonym: "Reye tumour" EXACT OMO:0003005 [] -synonym: "Reye's tumor" EXACT [NCIT:C3456, Orphanet:199267] +synonym: "Reye's tumor" EXACT [NCIT:C3456] synonym: "Reye's tumour" EXACT OMO:0003005 [] xref: GARD:8487 {source="MONDO:GARD"} xref: HP:0025197 {source="MONDO:otherHierarchy"} @@ -368548,7 +368619,7 @@ id: MONDO:0016054 name: obsolete cerebral malformation subset: ordo_group_of_disorders {source="Orphanet:199633"} subset: otar {source="MONDO:OTAR"} -synonym: "brain malformation" EXACT [Orphanet:199633] +synonym: "brain malformation" EXACT [] xref: NANDO:2100217 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:199633 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:199633", source="https://github.com/monarch-initiative/mondo-build/issues/58", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete non-syndromic central nervous system malformation @@ -368735,14 +368806,14 @@ subset: orphanet_rare {source="Orphanet:201"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CD" RELATED ABBREVIATION [GARD:0006202] -synonym: "Cowden disease" EXACT [NCIT:C3076, Orphanet:201] -synonym: "Cowden syndrome" EXACT [NCIT:C3076] +synonym: "Cowden disease" EXACT [DOID:6457, NCIT:C3076, OMIMPS:158350, Orphanet:201] +synonym: "Cowden syndrome" EXACT [DOID:6457, NCIT:C3076, Orphanet:201] synonym: "Cowden's disease" EXACT [NCIT:C3076] -synonym: "dysplastic gangliocytoma of cerebellum" RELATED [DOID:6457, NCIT:C8419] -synonym: "Lhermitte-Duclos disease" RELATED EXCLUDE [DOID:6457] +synonym: "dysplastic gangliocytoma of cerebellum" RELATED [] +synonym: "Lhermitte-Duclos disease" RELATED EXCLUDE [] synonym: "MHAM" RELATED ABBREVIATION [GARD:0006202] -synonym: "multiple hamartoma syndrome" EXACT [DOID:6457, NCIT:C3076, Orphanet:201] -synonym: "PTEN hamartoma syndrome" RELATED EXCLUDE [NCIT:C3076] +synonym: "multiple hamartoma syndrome" EXACT [Orphanet:201] +synonym: "PTEN hamartoma syndrome" RELATED EXCLUDE [] xref: DOID:6457 {source="MONDO:equivalentTo"} xref: GARD:6202 {source="MONDO:GARD"} xref: ICD10CM:Q85.8 {source="Orphanet:201/attributed", source="Orphanet:201/ntbt", source="Orphanet:201"} @@ -368772,9 +368843,9 @@ def: "Cleft palate is a fissure type embryopathy that affects the soft and hard subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:2014"} subset: otar {source="MONDO:OTAR"} -synonym: "cleft velum" RELATED EXCLUDE [DOID:674] -synonym: "palatoschisis" EXACT [DOID:674] -synonym: "uranostaphyloschisis" EXACT [DOID:674] +synonym: "cleft velum" RELATED EXCLUDE [] +synonym: "palatoschisis" EXACT [DOID:674, icd11.foundation:2129534948] +synonym: "uranostaphyloschisis" EXACT [] xref: DOID:674 {source="MONDO:equivalentTo"} xref: ICD10CM:Q35 {source="DOID:674"} xref: ICD10CM:Q35.1 {source="Orphanet:2014", source="Orphanet:2014/btnt"} @@ -368836,9 +368907,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:2017"} subset: orphanet_rare {source="Orphanet:2017"} subset: rare -synonym: "cleft sternum" EXACT [Orphanet:2017] +synonym: "cleft sternum" EXACT [icd11.foundation:1308914573, Orphanet:2017] synonym: "congenital sternal cleft" RELATED [GARD:0005012] -synonym: "sternum bifidum" EXACT [Orphanet:2017] +synonym: "sternum bifidum" EXACT [icd11.foundation:1308914573, Orphanet:2017] xref: GARD:5012 {source="MONDO:GARD"} xref: ICD10CM:Q76.7 {source="Orphanet:2017", source="Orphanet:2017/ntbt"} xref: icd11.foundation:1308914573 {source="MONDO:equivalentTo"} @@ -368914,7 +368985,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant gingival fibromatosis" EXACT [Orphanet:2024] synonym: "autosomal dominant gingival hyperplasia" EXACT [Orphanet:2024] -synonym: "hereditary gingival fibromatosis" EXACT [DOID:0060466] +synonym: "hereditary gingival fibromatosis" EXACT [DOID:0060466, icd11.foundation:1911315646, Orphanet:2024] synonym: "hereditary gingival hyperplasia" EXACT [DOID:0060466, Orphanet:2024] xref: DOID:0060466 {source="MONDO:equivalentTo"} xref: GARD:16582 {source="MONDO:GARD"} @@ -368939,8 +369010,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:2028"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mesenchymal dysplasia" EXACT [NCIT:C98297] -synonym: "Molluscum fibrosum" EXACT [NCIT:C98297] +synonym: "mesenchymal dysplasia" EXACT [] +synonym: "Molluscum fibrosum" EXACT [] synonym: "Murray-Puretic-Drescher syndrome" EXACT [Orphanet:2028] synonym: "Puretic syndrome" EXACT [Orphanet:2028] xref: GARD:16583 {source="MONDO:GARD"} @@ -368983,7 +369054,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "microphthalmia, syndromic" EXACT [OMIMPS:309800] synonym: "syndrome associated with microphthalmia" EXACT [MONDO:patterns/syndromic] -synonym: "syndromic microphthalmia" EXACT [MONDO:0000064, MONDO:patterns/syndromic] +synonym: "syndromic microphthalmia" EXACT [DOID:0080636, MONDO:0000064, MONDO:patterns/syndromic, Orphanet:202948] xref: DOID:0080636 {source="MONDO:equivalentTo"} xref: GARD:20342 {source="MONDO:GARD"} xref: MEDGEN:1826052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -369142,8 +369213,8 @@ subset: ordo_disorder {source="Orphanet:2041"} subset: ordo_morphological_anomaly {source="Orphanet:2041"} subset: orphanet_rare {source="Orphanet:2041"} subset: rare -synonym: "Coronaro-cardiac fistula" EXACT [Orphanet:2041] -synonym: "coronary arterial malformations" EXACT [Orphanet:2041] +synonym: "Coronaro-cardiac fistula" EXACT [] +synonym: "coronary arterial malformations" EXACT [] xref: GARD:1533 {source="MONDO:GARD"} xref: ICD10CM:Q24.5 {source="Orphanet:2041/ntbt", source="Orphanet:2041"} xref: MedDRA:10069441 {source="Orphanet:2041/e", source="Orphanet:2041"} @@ -369228,15 +369299,15 @@ subset: gard_rare {source="GARD:6842", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:563991"} subset: orphanet_rare {source="Orphanet:563991"} subset: rare -synonym: "aseptic necrosis of the tarsal bone" EXACT [Orphanet:2054, Orphanet:563991] +synonym: "aseptic necrosis of the tarsal bone" EXACT [Orphanet:563991] synonym: "juvenile osteochondrosis of foot" EXACT [DOID:11760, ICD9CM:732.5] synonym: "Kohler disease" EXACT [DOID:11760, Orphanet:563991] -synonym: "Kohler's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, GARD:0006842, MONDO:LexicalVariant] +synonym: "Kohler's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:11760, GARD:0006842, MONDO:LexicalVariant] synonym: "Kohler's disease of the tarsal navicular" RELATED [GARD:0006842] synonym: "Kohler's Osteochondrosis of the tarsal navicular" RELATED [GARD:0006842] synonym: "navicular Osteochondrosis" RELATED [GARD:0006842] synonym: "osteochondritis of tarsal/metatarsal bone" EXACT [GARD:0006842] -synonym: "Osteochondrosis of the tarsal bone" EXACT [GARD:0006842, Orphanet:2054] +synonym: "Osteochondrosis of the tarsal bone" EXACT [GARD:0006842, Orphanet:563991] xref: DOID:11760 {source="MONDO:equivalentTo"} xref: GARD:6842 {source="MONDO:GARD"} xref: ICD10CM:M93.2 {source="Orphanet:2054/ntbt", source="Orphanet:2054"} @@ -369311,7 +369382,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "early onset Krabbe disease" EXACT [PMID:20301416, PMID:30777126] synonym: "early symptomatic Krabbe disease" EXACT [PMID:20301416, PMID:30777126] -synonym: "early-onset Krabbe disease" EXACT [PMID:20301416, PMID:30777126] +synonym: "early-onset Krabbe disease" EXACT [icd11.foundation:999546344, PMID:20301416, PMID:30777126] synonym: "infantile onset Krabbe disease" EXACT [https://orcid.org/0000-0002-0587-4693, PMID:20301416] synonym: "infantile-onset Krabbe disease" EXACT [https://orcid.org/0000-0002-0587-4693, PMID:20301416] synonym: "Krabbe disease, classic form" EXACT [Orphanet:206436] @@ -369379,8 +369450,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:206470"} subset: orphanet_rare {source="Orphanet:206470"} subset: rare -synonym: "mucinous cystadenoma of ovary in childhood" EXACT [Orphanet:206470] -synonym: "serous cystadenoma of ovary in childhood" EXACT [Orphanet:206470] +synonym: "mucinous cystadenoma of ovary in childhood" EXACT [] +synonym: "serous cystadenoma of ovary in childhood" EXACT [] xref: GARD:20346 {source="MONDO:GARD"} xref: ICD10CM:D27 {source="Orphanet:206470", source="Orphanet:206470/ntbt"} xref: MEDGEN:1803886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -369402,7 +369473,7 @@ synonym: "borderline epithelial tumor of ovary" EXACT [NCIT:C4783] synonym: "borderline epithelial tumor of the ovary" EXACT [NCIT:C4783] synonym: "borderline epithelial tumour of the ovary" EXACT OMO:0003005 [] synonym: "borderline ovarian epithelial neoplasm" EXACT [NCIT:C4783] -synonym: "borderline ovarian epithelial tumor" EXACT [NCIT:C4783, Orphanet:206473] +synonym: "borderline ovarian epithelial tumor" EXACT [NCIT:C4783] synonym: "borderline ovarian epithelial tumour" EXACT OMO:0003005 [] synonym: "borderline ovarian surface epithelial-stromal tumor" EXACT [NCIT:C4783] synonym: "borderline ovarian surface epithelial-stromal tumour" EXACT OMO:0003005 [] @@ -369417,13 +369488,13 @@ synonym: "epithelial tumour of ovary of borderline malignancy" EXACT OMO:0003005 synonym: "epithelial tumour of the ovary of borderline malignancy" EXACT OMO:0003005 [] synonym: "low malignant potential ovarian tumor" EXACT [NCIT:C4783] synonym: "low malignant potential ovarian tumour" EXACT OMO:0003005 [] -synonym: "ovarian borderline malignant tumor" EXACT [NCIT:C4783] +synonym: "ovarian borderline malignant tumor" EXACT [] synonym: "ovarian borderline malignant tumour" EXACT OMO:0003005 [] -synonym: "ovarian low malignant potential tumor" EXACT [NCIT:C4783] +synonym: "ovarian low malignant potential tumor" EXACT [] synonym: "ovarian low malignant potential tumour" EXACT OMO:0003005 [] -synonym: "ovarian tum. of low malig. poten." EXACT [NCIT:C4783] -synonym: "ovarian tumor of low malignant potential" EXACT [Orphanet:206473] -synonym: "ovarian tumors of low malignant potential" EXACT [NCIT:C4783] +synonym: "ovarian tum. of low malig. poten." EXACT [] +synonym: "ovarian tumor of low malignant potential" EXACT [] +synonym: "ovarian tumors of low malignant potential" EXACT [] synonym: "ovarian tumour of low malignant potential" EXACT OMO:0003005 [] synonym: "ovarian tumours of low malignant potential" EXACT OMO:0003005 [] xref: EFO:1000140 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -369447,7 +369518,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:206489"} subset: orphanet_rare {source="Orphanet:206489"} subset: rare -synonym: "malignant germ cell tumor of the vagina" RELATED [Orphanet:206489] +synonym: "malignant germ cell tumor of the vagina" RELATED [] synonym: "malignant germ cell tumour of the vagina" RELATED OMO:0003005 [] synonym: "vagina malignant germ cell tumor" EXACT [MONDO:patterns/location] synonym: "vagina malignant germ cell tumour" EXACT OMO:0003005 [] @@ -369474,7 +369545,7 @@ synonym: "rhabdomyosarcoma (disease) of vagina" EXACT [] synonym: "vagina rhabdomyosarcoma" EXACT [] synonym: "vagina rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "vaginal rhabdomyosarcoma" EXACT [NCIT:C128080] -synonym: "vulvovaginal rhabdomyosarcoma" RELATED [Orphanet:206492] +synonym: "vulvovaginal rhabdomyosarcoma" RELATED [] xref: GARD:20348 {source="MONDO:GARD"} xref: ICD10CM:C52 {source="Orphanet:206492", source="Orphanet:206492/ntbt"} xref: MEDGEN:925567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -369500,9 +369571,9 @@ subset: rare synonym: "non-dysgerminomatous germ cell cancer of ovary" EXACT [Orphanet:206538] synonym: "ovarian non-dysgerminomatous germ cell tumor" EXACT [NCIT:C102870] synonym: "ovarian non-dysgerminomatous germ cell tumour" EXACT OMO:0003005 [] -synonym: "ovarian nondysgerm. GCT, NOS" RELATED EXCLUDE [NCIT:C102870] +synonym: "ovarian nondysgerm. GCT, NOS" RELATED EXCLUDE [] synonym: "ovarian Nondysgerminomatous germ cell tumor" EXACT [NCIT:C102870] -synonym: "ovarian nondysgerminomatous germ cell tumor, NOS" RELATED EXCLUDE [NCIT:C102870] +synonym: "ovarian nondysgerminomatous germ cell tumor, NOS" RELATED EXCLUDE [] synonym: "ovarian Nondysgerminomatous germ cell tumour" EXACT OMO:0003005 [] xref: GARD:20349 {source="MONDO:GARD"} xref: ICD10CM:C56 {source="Orphanet:206538/ntbt", source="Orphanet:206538"} @@ -369592,8 +369663,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:206575"} subset: orphanet_rare {source="Orphanet:206575"} subset: rare -synonym: "acquired rippling muscle disease" BROAD [Orphanet:206575] -synonym: "immune-mediated rippling muscle disease" EXACT [Orphanet:206575] +synonym: "acquired rippling muscle disease" BROAD [] +synonym: "immune-mediated rippling muscle disease" EXACT [icd11.foundation:327350590, Orphanet:206575] synonym: "Rmd-MG" EXACT [PMID:14694511] xref: GARD:20353 {source="MONDO:GARD"} xref: ICD10CM:G70.8 {source="Orphanet:206575/ntbt", source="Orphanet:206575"} @@ -369663,7 +369734,7 @@ subset: rare synonym: "hyperCKmia" EXACT [NCIT:C148327] synonym: "idiopathic asymptomatic hyperCKemia" EXACT [Orphanet:206599] synonym: "isolated asymptomatic hyperCKemia" EXACT [Orphanet:206599] -synonym: "isolated hyperCKemia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1385/] +synonym: "isolated hyperCKemia" EXACT [DOID:0111338, https://www.ncbi.nlm.nih.gov/books/NBK1385/, NCIT:C148327] xref: DOID:0111338 {source="MONDO:equivalentTo"} xref: MEDGEN:1668524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C148327 {source="MONDO:equivalentTo"} @@ -369680,8 +369751,8 @@ name: obsolete infectious disease with peripheral neuropathy def: "OBSOLETE. An infectious process affecting the peripheral nerves." [NCIT:C27589] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: infectious disease' subset: ordo_group_of_disorders {source="Orphanet:206613"} -synonym: "peripheral nerve infection" EXACT [NCIT:C27589] -synonym: "peripheral nervous system infectious disorder" EXACT [NCIT:C27589] +synonym: "peripheral nerve infection" EXACT [] +synonym: "peripheral nervous system infectious disorder" EXACT [] xref: NCIT:C27589 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:206613 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -369695,7 +369766,7 @@ name: acquired skeletal muscle disease def: "An instance of skeletal muscle disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206638"} -synonym: "acquired skeletal muscle disease" EXACT [MONDO:patterns/acquired] +synonym: "acquired skeletal muscle disease" EXACT [MONDO:patterns/acquired, Orphanet:206638] xref: MEDGEN:1842576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:206638 {source="MONDO:equivalentTo"} xref: UMLS:C5680799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842576"} @@ -369712,7 +369783,7 @@ subset: gard_rare {source="GARD:20360", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:206644"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "progressive muscular dystrophy" EXACT CLINGEN_LABEL [] +synonym: "progressive muscular dystrophy" EXACT CLINGEN_LABEL [Orphanet:206644] xref: GARD:20360 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:206644", source="Orphanet:206644/attributed", source="Orphanet:206644/ntbt"} xref: MEDGEN:1633060 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -369733,7 +369804,7 @@ subset: rare synonym: "inherited myotonic dystrophy" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "myotonia atrophica" RELATED [GARD:0010419] synonym: "myotonia dystrophica" RELATED [GARD:0010419] -synonym: "myotonic disease" RELATED [DOID:450] +synonym: "myotonic disease" RELATED [] xref: DOID:450 {source="MONDO:equivalentTo"} xref: GARD:10419 {source="MONDO:GARD"} xref: ICD10CM:G71.1 {source="Orphanet:206647", source="Orphanet:206647/attributed", source="Orphanet:206647/ntbt", source="DOID:450"} @@ -369804,8 +369875,8 @@ def: "OBSOLETE. A group of rare skeletal muscle ion-channel disorders caused by comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206656"} -synonym: "non dystrophic myotonia" EXACT [NCIT:C122787] -synonym: "non-dystrophic myotonia" EXACT [NCIT:C122787] +synonym: "non dystrophic myotonia" EXACT [] +synonym: "non-dystrophic myotonia" EXACT [] xref: NANDO:1200496 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NCIT:C122787 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:206656 {source="MONDO:obsoleteEquivalent"} @@ -369851,7 +369922,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:206701"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bulbospinal muscular atrophy" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy] +synonym: "bulbospinal muscular atrophy" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy, icd11.foundation:1604214898, Orphanet:206701] synonym: "SBMA" EXACT ABBREVIATION [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy] synonym: "spinal and bulbal muscular atrophy" EXACT [Wikipedia:Spinal_and_bulbar_muscular_atrophy] synonym: "spinal-bulbar muscular atrophy" EXACT [https://www.mda.org/disease/spinal-bulbar-muscular-atrophy] @@ -369888,7 +369959,7 @@ name: obsolete bulbospinal muscular atrophy of adulthood def: "OBSOLETE. A bulbospinal muscular atrophy that occurs in an adult." [MONDO:design_pattern] subset: ordo_group_of_disorders {source="Orphanet:206707"} synonym: "adult bulbospinal muscular atrophy" EXACT [MONDO:design_pattern] -synonym: "bulbospinal muscular atrophy of adult" RELATED [Orphanet:206707] +synonym: "bulbospinal muscular atrophy of adult" RELATED [] synonym: "bulbospinal muscular atrophy of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: ICD10CM:G12.2 {source="Orphanet:206707", source="Orphanet:206707/attributed", source="Orphanet:206707/ntbt"} xref: Orphanet:206707 {source="MONDO:obsoleteEquivalent"} @@ -369913,7 +369984,7 @@ id: MONDO:0016117 name: obsolete muscular lipidosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206953"} -synonym: "lipid storage myopathy" EXACT [Orphanet:206953] +synonym: "lipid storage myopathy" EXACT [] xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:206953 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -369926,7 +369997,7 @@ name: obsolete muscular glycogenosis comment: Reason of obsoletion: grouping class - MONDO:excludeGrouping. Term to consider: -none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:206959"} -synonym: "glycogen storage myopathy" EXACT [Orphanet:206959] +synonym: "glycogen storage myopathy" EXACT [] xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:206959", source="Orphanet:206959/attributed", source="Orphanet:206959/ntbt"} xref: NANDO:1200823 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:206959 {source="MONDO:obsoleteEquivalent"} @@ -369986,7 +370057,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:206976"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "periodic paralysis" EXACT [MONDO:ambiguous] +synonym: "periodic paralysis" EXACT [icd11.foundation:577112387, MONDO:ambiguous, Orphanet:206976] synonym: "periodic paralysis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:20374 {source="MONDO:GARD"} xref: HP:0003768 {source="MONDO:otherHierarchy"} @@ -370107,7 +370178,7 @@ subset: orphanet_rare {source="Orphanet:2070"} subset: rare synonym: "EGE" EXACT ABBREVIATION [Orphanet:2070] synonym: "eosinophilic enteritis" EXACT [Orphanet:2070] -synonym: "eosinophilic gastroenteritis" EXACT [DOID:4031, NCIT:C35330] +synonym: "eosinophilic gastroenteritis" EXACT [DOID:4031, NCIT:C35330, Orphanet:2070] synonym: "eosinophilic gastroenterocolitis" EXACT [Orphanet:2070] xref: DOID:4031 {source="MONDO:equivalentTo"} xref: GARD:9142 {source="MONDO:GARD"} @@ -370217,7 +370288,7 @@ id: MONDO:0016137 name: obsolete acute and subacute inflammatory demyelinating polyneuropathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acquired peripheral neuropathy' subset: ordo_group_of_disorders {source="Orphanet:207038"} -synonym: "acute and subacute inflammatory demyelinating polyradiculoneuropathy" EXACT [Orphanet:207038] +synonym: "acute and subacute inflammatory demyelinating polyradiculoneuropathy" EXACT [] xref: Orphanet:207038 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -370422,7 +370493,7 @@ is_obsolete: true id: MONDO:0016150 name: obsolete qualitative or quantitative defects of integrin alpha-7 subset: ordo_group_of_disorders {source="Orphanet:207098"} -synonym: "integrinopathy" EXACT [Orphanet:207098] +synonym: "integrinopathy" EXACT [] xref: Orphanet:207098 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370542,11 +370613,11 @@ subset: ordo_disorder {source="Orphanet:2073"} subset: orphanet_rare {source="Orphanet:2073"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Gelineau disease" EXACT [Orphanet:2073] +synonym: "Gelineau disease" EXACT [] synonym: "Gelineau syndrome" EXACT [GARD:0007162] synonym: "Gelineau's syndrome" EXACT [GARD:0007162] synonym: "Gélineau disease" EXACT [Orphanet:2073] -synonym: "narcolepsy type 1" EXACT [https://orcid.org/0000-0001-9310-0163, https://www.ninds.nih.gov/health-information/disorders/narcolepsy] +synonym: "narcolepsy type 1" EXACT [https://orcid.org/0000-0001-9310-0163, https://www.ninds.nih.gov/health-information/disorders/narcolepsy, Orphanet:2073] synonym: "narcolepsy with cataplexy" EXACT [MONDO:0005069] synonym: "narcolepsy-cataplexy syndrome" EXACT [GARD:0007162] synonym: "narcoleptic syndrome" RELATED [GARD:0007162] @@ -370618,7 +370689,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2081"} subset: rare synonym: "cerebral gigantism jaw cysts" RELATED [GARD:0001206] synonym: "Cramer Niederdellmann syndrome" RELATED [GARD:0001206] -synonym: "Cramer-Niederdellmann syndrome" EXACT [Orphanet:2081] +synonym: "Cramer-Niederdellmann syndrome" EXACT [] xref: GARD:1206 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:2081", source="Orphanet:2081/ntbt"} xref: Orphanet:2081 {source="MONDO:equivalentObsolete", source="GARD:0001206"} @@ -370656,7 +370727,7 @@ subset: ordo_group_of_disorders {source="Orphanet:208508"} subset: orphanet_rare {source="Orphanet:94147"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Adca, type 2" RELATED [OMIM:164500] +synonym: "Adca, type 2" RELATED [] synonym: "ADCA, type II" RELATED [GARD:0004955] synonym: "ADCA2" EXACT ABBREVIATION [Orphanet:208508] synonym: "ADCAII" EXACT ABBREVIATION [Orphanet:208508] @@ -370665,17 +370736,17 @@ synonym: "ATXN7 autosomal dominant cerebellar ataxia type II" EXACT [MONDO:desig synonym: "autosomal dominant cerebellar ataxia type 2" EXACT [Orphanet:208508] synonym: "autosomal dominant cerebellar ataxia type II" EXACT [Orphanet:208508] synonym: "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant cerebellar ataxia, type 2" RELATED [OMIM:164500] +synonym: "autosomal dominant cerebellar ataxia, type 2" RELATED [] synonym: "cerebellar syndrome-pigmentary maculopathy syndrome" EXACT [Orphanet:94147] -synonym: "olivopontocerebellar atrophy 3" RELATED [OMIM:164500] -synonym: "OPCA 3" RELATED [OMIM:164500] +synonym: "olivopontocerebellar atrophy 3" RELATED [] +synonym: "OPCA 3" RELATED [] synonym: "OPCA III" RELATED [GARD:0004955] -synonym: "OPCA with macular Degeneration and external ophthalmoplegia" RELATED [OMIM:164500] -synonym: "OPCA with retinal Degeneration" RELATED [OMIM:164500] +synonym: "OPCA with macular Degeneration and external ophthalmoplegia" RELATED [] +synonym: "OPCA with retinal Degeneration" RELATED [] synonym: "OPCA3" RELATED ABBREVIATION [GARD:0004955] synonym: "SCA7" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164500, Orphanet:94147] -synonym: "spinocerebellar ataxia 7" RELATED [MONDO:Lexical, OMIM:164500] -synonym: "spinocerebellar ataxia type 7" EXACT [MONDORULE:1, OMIM:164500] +synonym: "spinocerebellar ataxia 7" RELATED [MONDO:Lexical] +synonym: "spinocerebellar ataxia type 7" EXACT [DOID:0050958, MONDORULE:1, NCIT:C126562, Orphanet:94147] xref: DOID:0050958 {source="MONDO:equivalentTo"} xref: GARD:20405 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:94147/attributed", source="Orphanet:94147/ntbt", source="Orphanet:94147"} @@ -370723,7 +370794,7 @@ subset: gard_rare {source="GARD:20407", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:208593"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "genetic hypoparathyroidism" EXACT [MONDO:patterns/genetic] +synonym: "genetic hypoparathyroidism" EXACT [MONDO:patterns/genetic, Orphanet:208593] xref: GARD:20407 {source="MONDO:GARD"} xref: MEDGEN:1842344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:208593 {source="MONDO:equivalentTo"} @@ -370742,7 +370813,7 @@ subset: gard_rare {source="GARD:20408", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:208596"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "genetic hyperparathyroidism" EXACT [MONDO:patterns/genetic] +synonym: "genetic hyperparathyroidism" EXACT [MONDO:patterns/genetic, Orphanet:208596] xref: GARD:20408 {source="MONDO:GARD"} xref: MEDGEN:1843372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:145000 {source="MONDO:equivalentTo"} @@ -370764,12 +370835,12 @@ subset: ordo_disorder {source="Orphanet:2086"} subset: orphanet_rare {source="Orphanet:2086"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glioma of optic tract" EXACT [NCIT:C8567] -synonym: "glioma of the optic tract" EXACT [NCIT:C8567] +synonym: "glioma of optic tract" EXACT [] +synonym: "glioma of the optic tract" EXACT [] synonym: "glioma of the visual pathway" EXACT [NCIT:C8567] synonym: "glioma of visual pathway" EXACT [NCIT:C8567] -synonym: "optic pathway glioma" EXACT [NCIT:C8567] -synonym: "optic tract glioma" EXACT [MONDO:patterns/location, NCIT:C8567] +synonym: "optic pathway glioma" EXACT [icd11.foundation:1000103370, NCIT:C8567, Orphanet:2086] +synonym: "optic tract glioma" EXACT [MONDO:patterns/location] synonym: "visual pathway glioma" EXACT [NCIT:C8567] xref: GARD:4107 {source="MONDO:GARD"} xref: ICD10CM:D33.3 {source="Orphanet:2086/ntbt", source="Orphanet:2086"} @@ -370794,8 +370865,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:208650"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "caps" BROAD [Orphanet:208650] -synonym: "Cryopyrinopathy" EXACT [Orphanet:208650] +synonym: "caps" BROAD [] +synonym: "Cryopyrinopathy" EXACT [NCIT:C84657, Orphanet:208650] xref: GARD:10927 {source="MONDO:GARD"} xref: ICD10CM:E85.0 {source="Orphanet:208650", source="Orphanet:208650/attributed", source="Orphanet:208650/ntbt"} xref: icd11.foundation:2139918612 {source="MONDO:equivalentTo", source="Orphanet:208650", source="https://orcid.org/0000-0002-4142-7153"} @@ -370822,7 +370893,7 @@ def: "OBSOLETE. Chronic form of acquired peripheral neuropathy." [MONDO:patterns subset: ordo_group_of_disorders {source="Orphanet:208974"} subset: otar {source="MONDO:OTAR"} synonym: "acquired peripheral neuropathy, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] -synonym: "CADP" EXACT ABBREVIATION [Orphanet:208974] +synonym: "CADP" EXACT ABBREVIATION [] synonym: "chronic acquired peripheral neuropathy" EXACT [MONDO:design_pattern] xref: Orphanet:208974 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -370863,7 +370934,7 @@ name: obsolete acquired sensory ganglionopathy def: "OBSOLETE. An instance of sensory ganglionopathy that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: ordo_group_of_disorders {source="Orphanet:208984"} synonym: "acquired sensory ganglionopathy" EXACT [MONDO:patterns/acquired] -synonym: "acquired sensory neuronopathy" EXACT [Orphanet:208984] +synonym: "acquired sensory neuronopathy" EXACT [] xref: Orphanet:208984 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370874,7 +370945,7 @@ is_obsolete: true id: MONDO:0016173 name: obsolete non-paraneoplastic sensory ganglionopathy subset: ordo_disorder {source="Orphanet:208989"} -synonym: "non-paraneoplastic sensory neuronopathy" EXACT [Orphanet:208989] +synonym: "non-paraneoplastic sensory neuronopathy" EXACT [] xref: Orphanet:208989 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370885,7 +370956,7 @@ is_obsolete: true id: MONDO:0016174 name: obsolete paraneoplastic sensory ganglionopathy subset: ordo_disorder {source="Orphanet:208999"} -synonym: "paraneoplastic sensory neuronopathy" EXACT [Orphanet:208999] +synonym: "paraneoplastic sensory neuronopathy" EXACT [] xref: Orphanet:208999 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -370903,7 +370974,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1022"} subset: ordo_group_of_disorders {source="Orphanet:209"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cutis laxa" EXACT [DOID:3144] +synonym: "cutis laxa" EXACT [DOID:3144, icd11.foundation:1227401566, NCIT:C84663, Orphanet:209] synonym: "elastolysis" EXACT [NCIT:C84663] synonym: "generalised elastolysis" RELATED OMO:0003005 [] synonym: "generalized elastolysis" RELATED [GARD:0006227] @@ -370999,7 +371070,7 @@ consider: MONDO:0005070 id: MONDO:0016182 name: obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase subset: ordo_group_of_disorders {source="Orphanet:209024"} -synonym: "qualitative or quantitative defects of protein POMGNT1" EXACT [Orphanet:209024] +synonym: "qualitative or quantitative defects of protein POMGNT1" EXACT [] xref: Orphanet:209024 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -371028,7 +371099,7 @@ subset: gard_rare {source="GARD:20423", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:209030"} subset: rare -synonym: "qualitative or quantitative defects of protein O-mannosyltransferase type 1" EXACT [MONDORULE:1, Orphanet:209030] +synonym: "qualitative or quantitative defects of protein O-mannosyltransferase type 1" EXACT [MONDORULE:1] xref: GARD:20423 {source="MONDO:GARD"} xref: MEDGEN:1842612 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:209030 {source="MONDO:equivalentTo"} @@ -371044,7 +371115,7 @@ subset: gard_rare {source="GARD:20424", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:209033"} subset: rare -synonym: "qualitative or quantitative defects of protein O-mannosyltransferase type 2" EXACT [MONDORULE:1, Orphanet:209033] +synonym: "qualitative or quantitative defects of protein O-mannosyltransferase type 2" EXACT [MONDORULE:1] xref: GARD:20424 {source="MONDO:GARD"} xref: MEDGEN:1842845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:209033 {source="MONDO:equivalentTo"} @@ -371106,7 +371177,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20428", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:209047"} subset: rare -synonym: "qualitative or quantitative defects of filamin type C" EXACT [MONDORULE:1, Orphanet:209047] +synonym: "qualitative or quantitative defects of filamin type C" EXACT [MONDORULE:1] xref: GARD:20428 {source="MONDO:GARD"} xref: MEDGEN:1843024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:209047 {source="MONDO:equivalentTo"} @@ -371266,7 +371337,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016200 name: obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase subset: ordo_group_of_disorders {source="Orphanet:209203"} -synonym: "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type -" EXACT [MONDORULE:1, Orphanet:209203] +synonym: "qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type -" EXACT [MONDORULE:1] xref: Orphanet:209203 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -371292,8 +371363,8 @@ subset: ordo_disorder {source="Orphanet:209867"} subset: orphanet_rare {source="Orphanet:209867"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DRRD" EXACT [OMIM:609508] -synonym: "rhegmatogenous retinal detachment, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant, OMIM:609508] +synonym: "DRRD" EXACT [] +synonym: "rhegmatogenous retinal detachment, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:17104 {source="MONDO:GARD"} xref: ICD10CM:H33.0 {source="Orphanet:209867", source="Orphanet:209867/attributed", source="Orphanet:209867/ntbt"} xref: icd11.foundation:1308905567 {source="MONDO:equivalentTo"} @@ -371333,7 +371404,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:209919"} subset: orphanet_rare {source="Orphanet:209919"} subset: rare -synonym: "non-Wilsonian hepatic copper toxicosis of infancy and childhood" EXACT [Orphanet:209919] +synonym: "non-Wilsonian hepatic copper toxicosis of infancy and childhood" EXACT [icd11.foundation:1692504835, Orphanet:209919] xref: GARD:17106 {source="MONDO:GARD"} xref: ICD10CM:K74.6 {source="Orphanet:209919", source="Orphanet:209919/ntbt"} xref: icd11.foundation:1692504835 {source="MONDO:equivalentTo", source="Orphanet:209919"} @@ -371390,7 +371461,7 @@ subset: orphanet_rare {source="Orphanet:209959"} subset: rare synonym: "endophthalmitis phacoanaphylactica" EXACT [Orphanet:209959] synonym: "lens-induced endophthalmitis" EXACT [Orphanet:209959] -synonym: "lens-induced iridocyclitis" RELATED [Orphanet:209959] +synonym: "lens-induced iridocyclitis" RELATED [] synonym: "lens-induced uveitis" EXACT [Orphanet:209959] synonym: "Phacoallergic endophthalmitis" EXACT [Orphanet:209959] synonym: "Phacoantigenic endophthalmitis" EXACT [Orphanet:209959] @@ -371430,8 +371501,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:209973"} subset: orphanet_rare {source="Orphanet:209973"} subset: rare -synonym: "benign familial nocturnal alternating hemiplegia in childhood" EXACT [Orphanet:209973] -synonym: "benign nocturnal alternating hemiplegia of childhood" RELATED [Orphanet:209973] +synonym: "benign familial nocturnal alternating hemiplegia in childhood" EXACT [] +synonym: "benign nocturnal alternating hemiplegia of childhood" RELATED [] xref: GARD:20445 {source="MONDO:GARD"} xref: icd11.foundation:447920235 {source="MONDO:equivalentTo"} xref: MEDGEN:1668716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -371534,13 +371605,13 @@ subset: ordo_disorder {source="Orphanet:210141"} subset: orphanet_rare {source="Orphanet:210141"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "inherited congenital spastic quadriplegia" EXACT [Orphanet:210141] -synonym: "inherited congenital spastic tetraplegia" RELATED [Orphanet:210141] -synonym: "quadriplegic infantile cerebral palsy" EXACT [DOID:10970, ICD9CM:343.2] -synonym: "spastic quadriplegia" EXACT [NCIT:C116904] -synonym: "spastic quadriplegic cerebral palsy" EXACT [DOID:10970, GARD:0010447, Orphanet:210141] +synonym: "inherited congenital spastic quadriplegia" EXACT [DOID:10970, Orphanet:210141] +synonym: "inherited congenital spastic tetraplegia" RELATED [] +synonym: "quadriplegic infantile cerebral palsy" EXACT [DOID:10970, icd11.foundation:1155284708, ICD9CM:343.2] +synonym: "spastic quadriplegia" EXACT [DOID:10970, NCIT:C116904] +synonym: "spastic quadriplegic cerebral palsy" EXACT [DOID:10970, GARD:0010447, icd11.foundation:1155284708, OMIMPS:612900] synonym: "spastic tetraplegia cerebral palsy" EXACT [GARD:0010447] -synonym: "tetraplegic infantile cerebral palsy" EXACT [DOID:10970] +synonym: "tetraplegic infantile cerebral palsy" EXACT [DOID:10970, icd11.foundation:1155284708] xref: DOID:10970 {source="MONDO:equivalentTo"} xref: GARD:17109 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:210141/attributed", source="Orphanet:210141/ntbt", source="Orphanet:210141"} @@ -371571,14 +371642,14 @@ subset: ordo_disorder {source="Orphanet:210159"} subset: orphanet_rare {source="Orphanet:210159"} subset: rare synonym: "adult HCC" EXACT [Orphanet:210159] -synonym: "adult hepatocellular carcinoma" EXACT [NCIT:C7956] -synonym: "adult hepatoma" EXACT [NCIT:C7956] +synonym: "adult hepatocellular carcinoma" EXACT [DOID:0070328, NCIT:C7956, Orphanet:210159] +synonym: "adult hepatoma" EXACT [DOID:0070328, NCIT:C7956] synonym: "adult primary carcinoma of liver cell" EXACT [NCIT:C7956] synonym: "adult primary carcinoma of the liver cell" EXACT [NCIT:C7956] -synonym: "adult primary hepatocellular carcinoma" EXACT [NCIT:C7956] +synonym: "adult primary hepatocellular carcinoma" EXACT [DOID:0070328, NCIT:C7956] synonym: "adult primary hepatoma" EXACT [NCIT:C7956] synonym: "adult primary liver cell carcinoma" EXACT [NCIT:C7956] -synonym: "hepatocellular cancer" BROAD [NCIT:C7956] +synonym: "hepatocellular cancer" BROAD [] synonym: "hepatocellular carcinoma of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:0070328 {source="MONDO:equivalentTo"} xref: GARD:6608 {source="MONDO:GARD"} @@ -371601,12 +371672,12 @@ subset: ordo_clinical_syndrome {source="Orphanet:210272"} subset: ordo_disorder {source="Orphanet:210272"} subset: orphanet_rare {source="Orphanet:210272"} subset: rare -synonym: "disembarkment syndrome" EXACT [Orphanet:210272] +synonym: "disembarkment syndrome" EXACT [icd11.foundation:459420954, Orphanet:210272] synonym: "Mal de debarquement syndrome" RELATED [GARD:0006959] -synonym: "Mal de débarquement" RELATED [Orphanet:210272] +synonym: "Mal de débarquement" RELATED [] synonym: "MDD" EXACT ABBREVIATION [Orphanet:210272] synonym: "MdDS" EXACT [Orphanet:210272] -synonym: "sickness of disembarkment" EXACT [Orphanet:210272] +synonym: "sickness of disembarkment" EXACT [icd11.foundation:459420954, Orphanet:210272] xref: GARD:6959 {source="MONDO:GARD"} xref: ICD10CM:H81.8 {source="Orphanet:210272/ntbt", source="Orphanet:210272"} xref: icd11.foundation:459420954 {source="MONDO:equivalentTo", source="Orphanet:210272", source="https://orcid.org/0000-0002-4142-7153"} @@ -371631,22 +371702,22 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute autoimmune peripheral neuropathy" RELATED [GARD:0006554] synonym: "acute immune-mediated polyneuropathy" RELATED [GARD:0006554] -synonym: "acute infective polyneuritis" RELATED EXCLUDE [DOID:12842] +synonym: "acute infective polyneuritis" RELATED EXCLUDE [] synonym: "acute inflammatory demyelinating polyneuropathy" RELATED [GARD:0006554] synonym: "acute inflammatory neuropathy" RELATED [GARD:0006554] synonym: "acute postinfectious polyneuropathy" EXACT [DOID:12842] -synonym: "GBS" EXACT ABBREVIATION [Orphanet:2103] +synonym: "GBS" EXACT ABBREVIATION [NCIT:C116345, Orphanet:2103] synonym: "Guillain Barre syndrome" EXACT [NCIT:C116345] synonym: "Guillain Barré syndrome" EXACT [NCIT:C116345] -synonym: "Guillain-Barre-Strohl syndrome" EXACT [Orphanet:2103] -synonym: "Guillain-Barré syndrome" EXACT [Orphanet:2103] +synonym: "Guillain-Barre-Strohl syndrome" EXACT [] +synonym: "Guillain-Barré syndrome" EXACT [NCIT:C116345, Orphanet:2103] synonym: "Guillain-Barré-Strohl syndrome" EXACT [Orphanet:2103] -synonym: "infectious neuronitis" NARROW EXCLUDE [DOID:12842] +synonym: "infectious neuronitis" NARROW EXCLUDE [] synonym: "Landry's ascending paralysis" RELATED [GARD:0006554] synonym: "Landry-Guillain-Barre-Strohl syndrome" RELATED [GARD:0006554] -synonym: "post-infectious polyneuritis" NARROW [DOID:12842] +synonym: "post-infectious polyneuritis" NARROW [] synonym: "post-infective polyneuritis" NARROW [GARD:0006554] -synonym: "postinfectious polyneuritis" NARROW [DOID:12842] +synonym: "postinfectious polyneuritis" NARROW [] xref: DOID:12842 {source="EFO:0007292", source="MONDO:equivalentTo"} xref: EFO:0007292 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6554 {source="MONDO:GARD"} @@ -371674,7 +371745,7 @@ subset: ordo_disorder {source="Orphanet:2104"} subset: ordo_malformation_syndrome {source="Orphanet:2104"} subset: orphanet_rare {source="Orphanet:2104"} subset: rare -synonym: "dysmorphism-pectus carinatum-joint laxity syndrome" EXACT [GARD:0000352] +synonym: "dysmorphism-pectus carinatum-joint laxity syndrome" EXACT [GARD:0000352, Orphanet:2104] synonym: "Guizar Vasquez Sanchez Manzano syndrome" RELATED [GARD:0000352] synonym: "Guízar Vázquez-Sánchez-Manzano syndrome" EXACT [Orphanet:2104] xref: GARD:18760 {source="MONDO:GARD"} @@ -371727,10 +371798,11 @@ subset: ordo_disorder {source="Orphanet:210584"} subset: orphanet_rare {source="Orphanet:210584"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCh" EXACT [DOID:496, NCIT:C4754] +synonym: "SCH" EXACT ABBREVIATION [DOID:496, NCIT:C4754] +synonym: "SCh" EXACT [] synonym: "spindle -cell hemangioma" EXACT [NCIT:C4754] synonym: "spindle cell hemangioendothelioma" EXACT [NCIT:C4754, Orphanet:210584] -synonym: "spindle cell hemangioma" EXACT [NCIT:C4754] +synonym: "spindle cell hemangioma" EXACT [DOID:496, NCIT:C4754, Orphanet:210584] xref: DOID:496 {source="MONDO:equivalentTo"} xref: GARD:20452 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:210584/ntbt", source="Orphanet:210584"} @@ -371807,7 +371879,7 @@ subset: ordo_group_of_disorders {source="Orphanet:211053"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dysphasia" EXACT [Orphanet:211053] -synonym: "specific language disorder" EXACT CLINGEN_LABEL [] +synonym: "specific language disorder" EXACT CLINGEN_LABEL [Orphanet:211053] xref: MEDGEN:1631585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D000080888 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:equivalentTo"} xref: Orphanet:211053 {source="MONDO:equivalentTo"} @@ -371827,9 +371899,9 @@ subset: ordo_group_of_disorders {source="Orphanet:211062"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ea syndrome" RELATED [GARD:0009851] -synonym: "episodic ataxia" EXACT [MONDO:0006503] +synonym: "episodic ataxia" EXACT [DOID:963, MONDO:0006503, OMIMPS:160120] synonym: "episodic ataxia syndrome" RELATED [GARD:0009851] -synonym: "Isaacs syndrome" RELATED [DOID:963] +synonym: "Isaacs syndrome" RELATED [] xref: DOID:963 {source="MONDO:equivalentTo", source="EFO:1000638"} xref: GARD:20457 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:211062/attributed", source="Orphanet:211062/ntbt", source="Orphanet:211062"} @@ -371886,7 +371958,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:211247"} subset: otar {source="MONDO:OTAR"} synonym: "congenital malformation of capillary" NARROW [] -synonym: "rare capillary malformation" RELATED [Orphanet:211247] +synonym: "rare capillary malformation" RELATED [] xref: MEDGEN:90955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:211247 {source="MONDO:equivalentTo"} xref: SCTID:234118009 {source="MONDO:equivalentTo"} @@ -371941,7 +372013,7 @@ id: MONDO:0016235 name: obsolete complex vascular malformation with associated anomalies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: vascular anomaly' subset: ordo_group_of_disorders {source="Orphanet:211277"} -synonym: "hemangiolymphangioma" EXACT [Orphanet:211277] +synonym: "hemangiolymphangioma" EXACT [] xref: Orphanet:211277 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -371960,7 +372032,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital cutaneous multifocal kaposiform hemangioendothelioma" RELATED [GARD:0003077] synonym: "Kaposiform hemangio-endothelioma" RELATED [GARD:0003077] -synonym: "Kaposiform hemangioendothelioma" EXACT [NCIT:C27510] +synonym: "Kaposiform hemangioendothelioma" EXACT [NCIT:C27510, Orphanet:2122] synonym: "KH" RELATED ABBREVIATION [GARD:0003077] synonym: "KHE" RELATED ABBREVIATION [GARD:0003077] xref: GARD:3077 {source="MONDO:GARD"} @@ -372006,13 +372078,13 @@ subset: ordo_disorder {source="Orphanet:2126"} subset: orphanet_rare {source="Orphanet:2126"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hemangiopericytoma" RELATED [NCIT:C7634] +synonym: "hemangiopericytoma" RELATED [] synonym: "localised fibrous mesothelioma" EXACT OMO:0003005 [] synonym: "localised fibrous tumour" EXACT OMO:0003005 [] synonym: "localized fibrous mesothelioma" EXACT [NCIT:C7634] synonym: "localized fibrous tumor" EXACT [NCIT:C7634] -synonym: "SFT" EXACT ABBREVIATION [NCIT:C7634] -synonym: "solitary fibrous tumor" EXACT [NCIT:C7634] +synonym: "SFT" EXACT ABBREVIATION [NCIT:C7634, Orphanet:2126] +synonym: "solitary fibrous tumor" EXACT [NCIT:C7634, Orphanet:2126] synonym: "solitary fibrous tumor/hemangiopericytoma" RELATED [ONCOTREE:SFT] synonym: "submesothelial fibroma" EXACT [NCIT:C7634] xref: GARD:15014 {source="MONDO:GARD"} @@ -372044,9 +372116,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cystine diathesis" RELATED [GARD:0006236] synonym: "cystine disease" RELATED [GARD:0006236] -synonym: "cystine storage disease" EXACT [DOID:1064] +synonym: "cystine storage disease" EXACT [DOID:1064, icd11.foundation:733715856] synonym: "Cystinoses" RELATED [GARD:0006236] -synonym: "cystinosis" EXACT CLINGEN_LABEL [] +synonym: "cystinosis" EXACT CLINGEN_LABEL [DOID:1064, ICD10CM:E72.04, icd11.foundation:733715856, NCIT:C2976, Orphanet:213] synonym: "Protein defect of cystin transport" EXACT [Orphanet:213] xref: DOID:1064 {source="MONDO:equivalentTo"} xref: GARD:6236 {source="MONDO:GARD"} @@ -372081,7 +372153,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18761", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:2130"} subset: rare -synonym: "longitudinal meromelia" EXACT [Orphanet:2130] +synonym: "longitudinal meromelia" EXACT [] xref: GARD:18761 {source="MONDO:GARD"} xref: ICD10CM:Q71.8 {source="Orphanet:2130/attributed", source="Orphanet:2130/ntbt", source="Orphanet:2130"} xref: ICD10CM:Q72.8 {source="Orphanet:2130/attributed", source="Orphanet:2130/ntbt", source="Orphanet:2130"} @@ -372109,9 +372181,9 @@ subset: orphanet_rare {source="Orphanet:2131"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adrenal hypoplasia congenita" EXACT [NCIT:C35261] -synonym: "AHC" EXACT ABBREVIATION [DOID:0050635, Orphanet:2131] +synonym: "AHC" EXACT ABBREVIATION [DOID:0050635, NCIT:C35261, Orphanet:2131] synonym: "alternating hemiplegia" RELATED [GARD:0000011] -synonym: "alternating hemiplegia of childhood" EXACT [MONDO:patterns/childhood] +synonym: "alternating hemiplegia of childhood" EXACT [DOID:0050635, icd11.foundation:301329822, MONDO:patterns/childhood, OMIMPS:104290, Orphanet:2131] synonym: "alternating hemiplegia syndrome" RELATED [GARD:0000011] synonym: "childhood alternating hemiplegia" EXACT [MONDO:design_pattern] synonym: "congenital adrenal gland hypoplasia" EXACT [NCIT:C35261] @@ -372181,7 +372253,7 @@ subset: orphanet_rare {source="Orphanet:2133"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Hb-E disease" EXACT [DOID:5379] -synonym: "hemoglobin E disease" EXACT [DOID:5379, NCIT:C35287] +synonym: "hemoglobin E disease" EXACT [DOID:5379, NCIT:C35287, Orphanet:2133] xref: DOID:5379 {source="MONDO:equivalentTo"} xref: GARD:2641 {source="MONDO:GARD"} xref: ICD10CM:D58.2 {source="Orphanet:2133", source="DOID:5379", source="Orphanet:2133/attributed", source="Orphanet:2133/ntbt"} @@ -372209,12 +372281,12 @@ subset: orphanet_rare {source="Orphanet:2134"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aHUS" EXACT [GARD:0008702, Orphanet:2134] -synonym: "Atypical Hemolytic Uremic Syndrome" EXACT [NORD:822] -synonym: "atypical hemolytic uremic syndrome" EXACT [NCIT:C123223] +synonym: "Atypical Hemolytic Uremic Syndrome" EXACT [NCIT:C123223, NORD:822, Orphanet:2134] +synonym: "atypical hemolytic uremic syndrome" EXACT [NCIT:C123223, Orphanet:2134] synonym: "atypical HUS" EXACT [GARD:0008702, Orphanet:2134] -synonym: "D-HUS" EXACT [Orphanet:2134] +synonym: "D-HUS" EXACT [] synonym: "D-minus hemolytic uremic syndrome (D-HUS)" RELATED [GARD:0006240] -synonym: "hemolytic-uremic syndrome without diarrhea" EXACT [Orphanet:2134] +synonym: "hemolytic-uremic syndrome without diarrhea" EXACT [] synonym: "hemolytic-uremic syndrome without diarrhoea" EXACT OMO:0003005 [] synonym: "HUS, atypical" RELATED [GARD:0008702] synonym: "non-diarrhea-associated hemolytic uremic syndrome" EXACT [NCIT:C123223] @@ -372263,8 +372335,8 @@ subset: disease_grouping subset: gard_rare {source="GARD:20467", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial ovarian cancer" EXACT CLINGEN_LABEL [] -synonym: "familial ovarian malignant tumor" EXACT [Orphanet:213517] +synonym: "familial ovarian cancer" EXACT CLINGEN_LABEL [icd11.foundation:1484739866] +synonym: "familial ovarian malignant tumor" EXACT [] synonym: "familial ovarian malignant tumour" EXACT OMO:0003005 [] synonym: "hereditary ovarian cancer" EXACT [MONDO:patterns/hereditary] xref: GARD:20467 {source="MONDO:GARD"} @@ -372330,10 +372402,10 @@ name: obsolete rare uterine cancer def: "OBSOLETE. Rare uterine cancer." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:213564"} -synonym: "rare cancer of uterus" EXACT [Orphanet:213564] -synonym: "rare malignant tumor of uterus" EXACT [Orphanet:213564] +synonym: "rare cancer of uterus" EXACT [] +synonym: "rare malignant tumor of uterus" EXACT [] synonym: "rare uterine cancer" EXACT [MONDO:patterns/rare] -synonym: "rare uterine malignant tumor" EXACT [Orphanet:213564] +synonym: "rare uterine malignant tumor" EXACT [] xref: Orphanet:213564 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -372344,7 +372416,7 @@ id: MONDO:0016253 name: obsolete rare cancer of corpus uteri subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:213569"} -synonym: "rare malignant tumor of corpus uteri" EXACT [Orphanet:213569] +synonym: "rare malignant tumor of corpus uteri" EXACT [] xref: Orphanet:213569 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -372371,9 +372443,9 @@ subset: gard_rare {source="GARD:20472", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:213589"} subset: rare synonym: "body of uterus mixed neoplasm" EXACT [MONDO:patterns/location] -synonym: "malignant mixed epithelial and mesenchymal tumor of corpus uteri" RELATED [Orphanet:213589] +synonym: "malignant mixed epithelial and mesenchymal tumor of corpus uteri" RELATED [] synonym: "malignant mixed epithelial and mesenchymal tumour of corpus uteri" RELATED OMO:0003005 [] -synonym: "mixed epithelial and mesenchymal cancer of corpus uteri" NARROW [Orphanet:213589] +synonym: "mixed epithelial and mesenchymal cancer of corpus uteri" NARROW [] synonym: "uterine corpus mixed epithelial and mesenchymal neoplasm" EXACT [NCIT:C40181] synonym: "uterine corpus mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40181] synonym: "uterine corpus mixed epithelial and mesenchymal tumour" EXACT OMO:0003005 [] @@ -372405,7 +372477,7 @@ subset: orphanet_rare {source="Orphanet:2136"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Hennekam lymphangiectasia lymphedema syndrome" EXACT [GARD:0003318] -synonym: "Hennekam lymphangiectasia-lymphedema syndrome" EXACT [DOID:0060366] +synonym: "Hennekam lymphangiectasia-lymphedema syndrome" EXACT [DOID:0060366, OMIMPS:235510] synonym: "intestinal lymphagiectasia lymphedema intellectual deficit syndrome" RELATED [GARD:0003318] synonym: "lymphangiectasies and lymphedema Hennekam type" RELATED [GARD:0003318] synonym: "lymphedem-lymphangiectasia-intellectual disability syndrome" EXACT [DOID:0060366] @@ -372445,7 +372517,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:213605"} subset: orphanet_rare {source="Orphanet:213605"} subset: rare -synonym: "Carcinofibroma of the corpus uteri" RELATED [Orphanet:213605] +synonym: "Carcinofibroma of the corpus uteri" RELATED [] synonym: "uterine corpus Carcinofibroma" EXACT [NCIT:C40182] xref: GARD:20474 {source="MONDO:GARD"} xref: ICD10CM:C54.0 {source="Orphanet:213605", source="Orphanet:213605/btnt"} @@ -372473,50 +372545,50 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "body of uterus carcinosarcoma" EXACT [MONDO:patterns/location] synonym: "carcinosarcoma of corpus uteri" EXACT [NCIT:C9180] -synonym: "carcinosarcoma of the corpus uteri" EXACT [NCIT:C9180] +synonym: "carcinosarcoma of the corpus uteri" EXACT [NCIT:C9180, Orphanet:213610] synonym: "carcinosarcoma of the uterine body" EXACT [NCIT:C9180] synonym: "carcinosarcoma of the uterine corpus" EXACT [NCIT:C9180] -synonym: "carcinosarcoma of the uterus" NARROW [NCIT:C9180] +synonym: "carcinosarcoma of the uterus" NARROW [] synonym: "carcinosarcoma of uterine body" EXACT [NCIT:C9180] synonym: "carcinosarcoma of uterine corpus" EXACT [NCIT:C9180] -synonym: "carcinosarcoma of uterus" EXACT [NCIT:C9180] +synonym: "carcinosarcoma of uterus" EXACT [] synonym: "corpus uteri malignant mixed mesodermal tumor" EXACT [NCIT:C9180] synonym: "corpus uteri malignant mixed mesodermal tumour" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal neoplasm of the uterine body" EXACT [NCIT:C9180] synonym: "malignant mixed mesodermal neoplasm of the uterine corpus" EXACT [NCIT:C9180] -synonym: "malignant mixed mesodermal neoplasm of the uterus" EXACT [NCIT:C9180] +synonym: "malignant mixed mesodermal neoplasm of the uterus" EXACT [] synonym: "malignant mixed mesodermal neoplasm of uterine body" EXACT [NCIT:C9180] synonym: "malignant mixed mesodermal neoplasm of uterine corpus" EXACT [NCIT:C9180] -synonym: "malignant mixed mesodermal neoplasm of uterus" EXACT [NCIT:C9180] +synonym: "malignant mixed mesodermal neoplasm of uterus" EXACT [] synonym: "malignant mixed mesodermal tumor of the uterine body" EXACT [NCIT:C9180] synonym: "malignant mixed mesodermal tumor of the uterine corpus" EXACT [NCIT:C9180] -synonym: "malignant mixed mesodermal tumor of the uterus" EXACT [NCIT:C9180] +synonym: "malignant mixed mesodermal tumor of the uterus" EXACT [] synonym: "malignant mixed mesodermal tumor of uterine body" EXACT [NCIT:C9180] synonym: "malignant mixed mesodermal tumor of uterine corpus" EXACT [NCIT:C9180] -synonym: "malignant mixed mesodermal tumor of uterus" EXACT [NCIT:C9180] +synonym: "malignant mixed mesodermal tumor of uterus" EXACT [] synonym: "malignant mixed mesodermal tumour of the uterine body" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal tumour of the uterine corpus" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal tumour of the uterus" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal tumour of uterine body" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal tumour of uterine corpus" EXACT OMO:0003005 [] synonym: "malignant mixed mesodermal tumour of uterus" EXACT OMO:0003005 [] -synonym: "malignant mixed Mullerian tumor of the corpus uteri" EXACT [Orphanet:213610] +synonym: "malignant mixed Mullerian tumor of the corpus uteri" EXACT [] synonym: "malignant mixed Mullerian tumour of the corpus uteri" EXACT OMO:0003005 [] synonym: "malignant mixed müllerian tumor of corpus uteri" RELATED [GARD:0012335] synonym: "malignant mixed Müllerian tumor of the corpus uteri" EXACT [Orphanet:213610] synonym: "malignant mixed müllerian tumour of corpus uteri" RELATED OMO:0003005 [] synonym: "malignant mixed Müllerian tumour of the corpus uteri" EXACT OMO:0003005 [] -synonym: "mixed Mullerian cancer of corpus uteri" EXACT [Orphanet:213610] -synonym: "mixed Mullerian sarcoma of the uterus" EXACT [NCIT:C9180] -synonym: "mixed Mullerian sarcoma of uterus" EXACT [NCIT:C9180] +synonym: "mixed Mullerian cancer of corpus uteri" EXACT [] +synonym: "mixed Mullerian sarcoma of the uterus" EXACT [] +synonym: "mixed Mullerian sarcoma of uterus" EXACT [] synonym: "mixed Müllerian cancer of corpus uteri" EXACT [Orphanet:213610] -synonym: "mixed Müllerian sarcoma of the uterus" EXACT [NCIT:C9180] -synonym: "mixed Müllerian sarcoma of uterus" EXACT [NCIT:C9180] +synonym: "mixed Müllerian sarcoma of the uterus" EXACT [] +synonym: "mixed Müllerian sarcoma of uterus" EXACT [] synonym: "uterine body carcinosarcoma" EXACT [NCIT:C9180] synonym: "uterine body malignant mixed mesodermal neoplasm" EXACT [NCIT:C9180] synonym: "uterine body malignant mixed mesodermal tumor" EXACT [NCIT:C9180] synonym: "uterine body malignant mixed mesodermal tumour" EXACT OMO:0003005 [] -synonym: "uterine carcinosarcoma" BROAD [NCIT:C9180, Orphanet:213610] +synonym: "uterine carcinosarcoma" BROAD [] synonym: "uterine corpus carcinosarcoma" EXACT [NCIT:C9180] synonym: "uterine corpus malignant mixed mesodermal (Mullerian) tumor" EXACT [NCIT:C9180] synonym: "uterine corpus malignant mixed mesodermal (Mullerian) tumour" EXACT OMO:0003005 [] @@ -372531,11 +372603,11 @@ synonym: "uterine corpus malignant mixed Mullerian tumour" EXACT OMO:0003005 [] synonym: "uterine corpus malignant mixed Müllerian neoplasm" EXACT [NCIT:C9180] synonym: "uterine corpus malignant mixed Müllerian tumor" EXACT [NCIT:C9180] synonym: "uterine corpus malignant mixed Müllerian tumour" EXACT OMO:0003005 [] -synonym: "uterine malignant mixed mesodermal neoplasm" EXACT [NCIT:C9180] -synonym: "uterine malignant mixed mesodermal tumor" EXACT [NCIT:C9180] +synonym: "uterine malignant mixed mesodermal neoplasm" EXACT [] +synonym: "uterine malignant mixed mesodermal tumor" EXACT [] synonym: "uterine malignant mixed mesodermal tumour" EXACT OMO:0003005 [] -synonym: "uterine mixed Mullerian sarcoma" EXACT [NCIT:C9180] -synonym: "uterine mixed Müllerian sarcoma" EXACT [NCIT:C9180] +synonym: "uterine mixed Mullerian sarcoma" EXACT [] +synonym: "uterine mixed Müllerian sarcoma" EXACT [] xref: GARD:12335 {source="MONDO:GARD"} xref: ICD10CM:C54.9 {source="Orphanet:213610", source="Orphanet:213610/ntbt"} xref: MEDGEN:316458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -372562,7 +372634,7 @@ subset: rare synonym: "body of uterus rhabdomyosarcoma" EXACT [] synonym: "body of uterus rhabdomyosarcoma (disease)" EXACT [MONDO:patterns/location] synonym: "rhabdomyosarcoma (disease) of body of uterus" EXACT [] -synonym: "rhabdomyosarcoma of the corpus uteri" RELATED [Orphanet:213615] +synonym: "rhabdomyosarcoma of the corpus uteri" RELATED [] synonym: "uterine corpus rhabdomyosarcoma" EXACT [NCIT:C127058] xref: GARD:20475 {source="MONDO:GARD"} xref: ICD10CM:C54.2 {source="Orphanet:213615", source="Orphanet:213615/ntbt"} @@ -372593,11 +372665,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "body of uterus leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C6340] synonym: "corpus uteri leiomyosarcoma" EXACT [NCIT:C6340] -synonym: "leiomyosarcoma - uterus" EXACT [NCIT:C6340] +synonym: "leiomyosarcoma - uterus" EXACT [] synonym: "leiomyosarcoma of body of uterus" EXACT [NCIT:C6340] -synonym: "leiomyosarcoma of corpus uteri" EXACT [NCIT:C6340] +synonym: "leiomyosarcoma of corpus uteri" EXACT [DOID:5289, NCIT:C6340] synonym: "leiomyosarcoma of the body of uterus" EXACT [NCIT:C6340] -synonym: "leiomyosarcoma of the corpus uteri" EXACT [NCIT:C6340] +synonym: "leiomyosarcoma of the corpus uteri" EXACT [NCIT:C6340, Orphanet:213625] synonym: "leiomyosarcoma of the uterine body" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of the uterine corpus" EXACT [NCIT:C6340] synonym: "leiomyosarcoma of the uterus" EXACT [NCIT:C6340] @@ -372608,7 +372680,7 @@ synonym: "uterine body leiomyosarcoma" EXACT [NCIT:C6340] synonym: "uterine corpus leiomyosarcoma" EXACT [NCIT:C6340] synonym: "Uterine Leiomyosarcoma" EXACT [NORD:1817] synonym: "uterine leiomyosarcoma" RELATED [ONCOTREE:ULMS] -synonym: "uterus leiomyosarcoma" RELATED [DOID:5289] +synonym: "uterus leiomyosarcoma" RELATED [] xref: DOID:5289 {source="MONDO:equivalentTo"} xref: EFO:1001974 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:20477 {source="MONDO:GARD"} @@ -372664,12 +372736,12 @@ subset: orphanet_rare {source="Orphanet:2137"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AIH" RELATED ABBREVIATION [GARD:0005871] -synonym: "autoimmune chronic active hepatitis" NARROW [DOID:2048, https://emedicine.medscape.com/article/172356-overview#a3] +synonym: "autoimmune chronic active hepatitis" NARROW [https://emedicine.medscape.com/article/172356-overview#a3] synonym: "autoimmune chronic hepatitis" RELATED [GARD:0005871] -synonym: "autoimmune hepatitis" EXACT [DOID:2048, NCIT:C27029] -synonym: "autoimmune hepatitis with centrilobular necrosis" NARROW [DOID:2048] +synonym: "autoimmune hepatitis" EXACT [DOID:2048, ICD10CM:K75.4, icd11.foundation:1235727122, NCIT:C27029, Orphanet:2137] +synonym: "autoimmune hepatitis with centrilobular necrosis" NARROW [] synonym: "autoimmune liver disease" BROAD [https://emedicine.medscape.com/article/172356-overview#a3] -synonym: "chronic autoimmune hepatitis" NARROW [Orphanet:2137] +synonym: "chronic autoimmune hepatitis" NARROW [] xref: DOID:2048 {source="EFO:0005676", source="MONDO:equivalentTo"} xref: EFO:0005676 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5871 {source="MONDO:GARD"} @@ -372712,7 +372784,7 @@ subset: ordo_disorder {source="Orphanet:213716"} subset: orphanet_rare {source="Orphanet:213716"} subset: rare synonym: "body of uterus squamous cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "endometrial squamous cell carcinoma" RELATED [Orphanet:213716] +synonym: "endometrial squamous cell carcinoma" RELATED [] xref: GARD:20479 {source="MONDO:GARD"} xref: ICD10CM:C54.1 {source="MONDO:relatedTo", source="Orphanet:213716/ntbt", source="Orphanet:213716"} xref: MEDGEN:1633992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -372733,7 +372805,7 @@ subset: ordo_disorder {source="Orphanet:213721"} subset: orphanet_rare {source="Orphanet:213721"} subset: rare synonym: "body of uterus undifferentiated carcinoma" EXACT [MONDO:patterns/location] -synonym: "endometrial undifferentiated carcinoma" RELATED [Orphanet:213721] +synonym: "endometrial undifferentiated carcinoma" RELATED [] xref: GARD:20480 {source="MONDO:GARD"} xref: ICD10CM:C54.9 {source="Orphanet:213721/ntbt", source="MONDO:relatedTo", source="https://orcid.org/0000-0002-7347-2434", source="Orphanet:213721"} xref: MEDGEN:1638762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -372755,7 +372827,7 @@ subset: ordo_disorder {source="Orphanet:213726"} subset: orphanet_rare {source="Orphanet:213726"} subset: rare synonym: "body of uterus papillary carcinoma" EXACT [MONDO:patterns/location] -synonym: "endometrial capillary carcinoma" EXACT [Orphanet:213726] +synonym: "endometrial capillary carcinoma" EXACT [] xref: GARD:20481 {source="MONDO:GARD"} xref: ICD10CM:C54.1 {source="Orphanet:213726", source="Orphanet:213726/ntbt"} xref: MEDGEN:1805139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -372826,7 +372898,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare synonym: "body of uterus adenoid cystic carcinoma" EXACT [MONDO:patterns/location] -synonym: "endometrial adenoid cystic carcinoma" EXACT [Orphanet:213741] +synonym: "endometrial adenoid cystic carcinoma" EXACT [] xref: ICD10CM:C54.0 {source="Orphanet:213741/btnt", source="Orphanet:213741"} xref: ICD10CM:C54.1 {source="Orphanet:213741/btnt", source="Orphanet:213741"} xref: ICD10CM:C54.2 {source="Orphanet:213741/btnt", source="Orphanet:213741"} @@ -372850,7 +372922,7 @@ subset: ordo_disorder {source="Orphanet:213746"} subset: orphanet_rare {source="Orphanet:213746"} subset: rare synonym: "body of uterus transitional cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "endometrial transitional cell carcinoma" RELATED [Orphanet:213746] +synonym: "endometrial transitional cell carcinoma" RELATED [] xref: GARD:20484 {source="MONDO:GARD"} xref: ICD10CM:C54.1 {source="Orphanet:213746", source="Orphanet:213746/ntbt"} xref: MEDGEN:1676303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -372871,9 +372943,9 @@ subset: orphanet_rare {source="Orphanet:213751"} subset: rare synonym: "body of uterus malignant germ cell tumor" EXACT [MONDO:patterns/location] synonym: "body of uterus malignant germ cell tumour" EXACT OMO:0003005 [] -synonym: "germ cell cancer of corpus uteri" EXACT [Orphanet:213751] +synonym: "germ cell cancer of corpus uteri" EXACT [] synonym: "germ cell cancer of the corpus uteri" EXACT [Orphanet:213751] -synonym: "malignant germ cell tumor of the corpus uteri" RELATED [Orphanet:213751] +synonym: "malignant germ cell tumor of the corpus uteri" RELATED [] synonym: "malignant germ cell tumour of the corpus uteri" RELATED OMO:0003005 [] xref: GARD:20485 {source="MONDO:GARD"} xref: ICD10CM:C54.0 {source="Orphanet:213751", source="Orphanet:213751/btnt"} @@ -372894,9 +372966,9 @@ name: obsolete rare cancer of cervix uteri def: "OBSOLETE. Rare cervical cancer." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:213761"} -synonym: "rare cervical cancer" EXACT [MONDO:patterns/rare, Orphanet:213761] -synonym: "rare cervical malignant tumor" EXACT [Orphanet:213761] -synonym: "rare malignant tumor of cervix uteri" EXACT [Orphanet:213761] +synonym: "rare cervical cancer" EXACT [MONDO:patterns/rare] +synonym: "rare cervical malignant tumor" EXACT [] +synonym: "rare malignant tumor of cervix uteri" EXACT [] xref: Orphanet:213761 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -373005,8 +373077,8 @@ subset: rare synonym: "46,XX ovotesticular DSD" EXACT [Orphanet:2138] synonym: "ovotesticular differences of sex development" EXACT [NCIT:C127167] synonym: "ovotesticular disorders of sex development" EXACT [NCIT:C127167] -synonym: "ovotesticular DSD" EXACT [NCIT:C127167, OMIM:400045] -synonym: "true hermaphroditism" RELATED [Orphanet:2138] +synonym: "ovotesticular DSD" EXACT [NCIT:C127167] +synonym: "true hermaphroditism" RELATED [] xref: GARD:16585 {source="MONDO:GARD"} xref: ICD10CM:Q56.0 {source="Orphanet:2138", source="Orphanet:2138/attributed", source="Orphanet:2138/ntbt"} xref: MEDGEN:1814438 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -373109,7 +373181,7 @@ def: "A papillary carcinoma that involves the uterine cervix." [MONDO:patterns/l subset: gard_rare {source="GARD:20497", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cervical papillary carcinoma" EXACT [Orphanet:213817] +synonym: "cervical papillary carcinoma" EXACT [] synonym: "uterine cervix papillary carcinoma" EXACT [MONDO:patterns/location] xref: GARD:20497 {source="MONDO:GARD"} xref: ICD10CM:C53.0 {source="MONDO:relatedTo", source="Orphanet:213817/btnt", source="Orphanet:213817"} @@ -373154,9 +373226,9 @@ subset: rare synonym: "cervical germ cell cancer" EXACT [Orphanet:213837] synonym: "cervical malignant germ cell tumor" EXACT [Orphanet:213837] synonym: "cervical malignant germ cell tumour" EXACT OMO:0003005 [] -synonym: "germ cell cancer of cervix uteri" EXACT [Orphanet:213837] +synonym: "germ cell cancer of cervix uteri" EXACT [] synonym: "germ cell cancer of the cervix uteri" EXACT [Orphanet:213837] -synonym: "malignant germ cell tumor of the cervix uteri" RELATED [Orphanet:213837] +synonym: "malignant germ cell tumor of the cervix uteri" RELATED [] synonym: "malignant germ cell tumour of the cervix uteri" RELATED OMO:0003005 [] synonym: "uterine cervix malignant germ cell tumor" EXACT [MONDO:patterns/location] synonym: "uterine cervix malignant germ cell tumour" EXACT OMO:0003005 [] @@ -373257,9 +373329,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital essential nyctalopia" EXACT [DOID:0050534, Orphanet:215] synonym: "congenital night blindness" EXACT [DOID:8498, ICD9CM:368.61] -synonym: "hereditary night blindness" EXACT [MONDO:0004587, MONDO:patterns/hereditary] +synonym: "hereditary night blindness" EXACT [DOID:8498, icd11.foundation:122338861, MONDO:0004587, MONDO:patterns/hereditary] synonym: "night blindness, congenital stationary" EXACT [OMIMPS:310500] -synonym: "Oguchi's disease" BROAD [DOID:8498] +synonym: "Oguchi's disease" BROAD [] xref: DOID:0050534 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:8498 {source="MONDO:equivalentTo"} xref: ICD10CM:H53.6 {source="Orphanet:215/attributed", source="Orphanet:215/ntbt", source="Orphanet:215"} @@ -373297,8 +373369,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial Hirschsprung's disease and type D brachydactyly" RELATED [GARD:0002700] synonym: "Hirschsprung disease type d brachydactyly" RELATED [GARD:0002700] -synonym: "Hirschsprung disease with type D brachydactyly" RELATED [OMIM:306980] -synonym: "Hirschsprung disease with type d brachydactyly" EXACT [MONDO:0010609] +synonym: "Hirschsprung disease with type D brachydactyly" RELATED [] +synonym: "Hirschsprung disease with type d brachydactyly" EXACT [MONDO:0010609, OMIM:306980] xref: GARD:2700 {source="MONDO:GARD"} xref: ICD10CM:Q43.1 {source="Orphanet:2150/attributed", source="Orphanet:2150/ntbt", source="Orphanet:2150"} xref: MEDGEN:375339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -373324,7 +373396,7 @@ subset: rare synonym: "ceroid lipofuscinoses" EXACT [OMIMPS:256730] synonym: "hereditary ceroid lipofuscinosis" EXACT [DOID:14503] synonym: "NCL" EXACT ABBREVIATION [Orphanet:216] -synonym: "neuronal ceroid lipofuscinosis" EXACT CLINGEN_LABEL [] +synonym: "neuronal ceroid lipofuscinosis" EXACT CLINGEN_LABEL [DOID:14503, ICD10CM:E75.4, icd11.foundation:1568332253, NCIT:C61257, Orphanet:216] xref: DOID:14503 {source="MONDO:equivalentTo"} xref: GARD:10739 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="DOID:14503", source="Orphanet:216", source="MONDO:equivalentTo", source="Orphanet:216/e", source="Orphanet:216/specific"} @@ -373357,7 +373429,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2162"} subset: orphanet_rare {source="Orphanet:2162"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "holoprosencephaly sequence" EXACT [NCIT:C74988] +synonym: "holoprosencephaly sequence" EXACT [DOID:4621, NCIT:C74988] synonym: "HPE" EXACT ABBREVIATION [Orphanet:2162] xref: DOID:4621 {source="MONDO:equivalentTo"} xref: GARD:6665 {source="MONDO:GARD"} @@ -373390,8 +373462,8 @@ name: prelingual non-syndromic genetic hearing loss def: "A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition." [https://orcid.org/0000-0001-5208-3432, Orphanet:216445] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "isolated prelingual genetic deafness" NARROW [Orphanet:216445] -synonym: "prelingual non-syndromic genetic deafness" NARROW [Orphanet:216445] +synonym: "isolated prelingual genetic deafness" NARROW [] +synonym: "prelingual non-syndromic genetic deafness" NARROW [] synonym: "prelingual non-syndromic genetic hearing loss" EXACT CLINGEN_LABEL [] xref: MEDGEN:1647959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:216445 {source="MONDO:equivalentObsolete"} @@ -373407,7 +373479,7 @@ name: postlingual non-syndromic genetic hearing loss def: "Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed." [Orphanet:216452] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "isolated postlingual genetic deafness" NARROW [Orphanet:216452] +synonym: "isolated postlingual genetic deafness" NARROW [] synonym: "postlingual non-syndromic genetic deafness" NARROW [] xref: MEDGEN:1641874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:216452 {source="MONDO:equivalentObsolete"} @@ -373449,12 +373521,12 @@ subset: ordo_disorder {source="Orphanet:216694"} subset: ordo_morphological_anomaly {source="Orphanet:216694"} subset: orphanet_rare {source="Orphanet:216694"} subset: rare -synonym: "congenitally corrected transposition of the great vessels" EXACT [Orphanet:216694] +synonym: "congenitally corrected transposition of the great vessels" EXACT [icd11.foundation:254915185, Orphanet:216694] synonym: "discordant ventriculoarterial and atrioventricular connections" EXACT [Orphanet:216694] -synonym: "Double discordance" EXACT [Orphanet:216694] +synonym: "Double discordance" EXACT [icd11.foundation:254915185, Orphanet:216694] synonym: "L-transposition of the great arteries" EXACT [Orphanet:216694] synonym: "L-transposition of the great vessels" EXACT [NCIT:C98902] -synonym: "levo-transposition of the great arteries" EXACT [Orphanet:216694] +synonym: "levo-transposition of the great arteries" EXACT [NCIT:C98902, Orphanet:216694] synonym: "levo-transposition of the great vessels" EXACT [NCIT:C98902] synonym: "transposition of the great arteries, congenitally corrected" RELATED [GARD:0001544] synonym: "transposition of the great vessels, congenitally corrected" RELATED [GARD:0001544] @@ -373611,7 +373683,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:216981"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Niemann-Pick disease type C, classic form" EXACT [Orphanet:216981] +synonym: "Niemann-Pick disease type C, classic form" EXACT [icd11.foundation:2006062681, Orphanet:216981] xref: GARD:20507 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:216981/attributed", source="Orphanet:216981/ntbt", source="Orphanet:216981"} xref: icd11.foundation:2006062681 {source="MONDO:equivalentTo"} @@ -373688,7 +373760,7 @@ def: "OBSOLETE. Rare pancreatic carcinoma." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:217074"} synonym: "rare exocrine pancreatic carcinoma" EXACT [MONDO:patterns/rare] -synonym: "rare pancreatic carcinoma" EXACT [Orphanet:217074] +synonym: "rare pancreatic carcinoma" EXACT [] xref: MedDRA:10033604 {source="Orphanet:217074", source="Orphanet:217074/e"} xref: MedDRA:10033609 {source="Orphanet:217074", source="Orphanet:217074/e"} xref: MESH:D010190 {source="Orphanet:217074", source="Orphanet:217074/e"} @@ -373710,7 +373782,7 @@ synonym: "Hunter syndrome type A" EXACT [Orphanet:217085] synonym: "iduronate 2-sulfatase deficiency type A" EXACT [Orphanet:217085] synonym: "MPS2A" EXACT ABBREVIATION [Orphanet:217085] synonym: "MPSIIA" EXACT ABBREVIATION [Orphanet:217085] -synonym: "mucopolysaccharidosis type 2, severe form" EXACT CLINGEN_LABEL [] +synonym: "mucopolysaccharidosis type 2, severe form" EXACT CLINGEN_LABEL [Orphanet:217085] synonym: "mucopolysaccharidosis type 2A" EXACT [Orphanet:217085] synonym: "mucopolysaccharidosis type II, severe form" EXACT [Orphanet:217085] synonym: "mucopolysaccharidosis type IIA" EXACT [Orphanet:217085] @@ -373737,7 +373809,7 @@ synonym: "Hunter syndrome type B" EXACT [Orphanet:217093] synonym: "iduronate 2-sulfatase deficiency type B" EXACT [Orphanet:217093] synonym: "MPS2B" EXACT ABBREVIATION [Orphanet:217093] synonym: "MPSIIB" EXACT ABBREVIATION [Orphanet:217093] -synonym: "mucopolysaccharidosis type 2, attenuated form" EXACT CLINGEN_LABEL [] +synonym: "mucopolysaccharidosis type 2, attenuated form" EXACT CLINGEN_LABEL [Orphanet:217093] synonym: "mucopolysaccharidosis type 2B" EXACT [Orphanet:217093] synonym: "mucopolysaccharidosis type II, attenuated form" EXACT [Orphanet:217093] synonym: "mucopolysaccharidosis type IIB" EXACT [Orphanet:217093] @@ -373771,7 +373843,7 @@ subset: orphanet_rare {source="Orphanet:217260"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "leukoencephalopathy, progressive multifocal" RELATED [GARD:0007468] -synonym: "PML" EXACT ABBREVIATION [DOID:643, Orphanet:217260] +synonym: "PML" EXACT ABBREVIATION [NCIT:C26815, Orphanet:217260] synonym: "progressive multifocal leukoencephalitis" EXACT [Orphanet:217260] xref: DOID:643 {source="EFO:0007455", source="MONDO:equivalentTo"} xref: EFO:0007455 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -373833,7 +373905,8 @@ subset: ordo_disorder {source="Orphanet:217557"} subset: orphanet_rare {source="Orphanet:217557"} subset: rare synonym: "infantile cellular interstitial pneumonitis" EXACT [Orphanet:217557] -synonym: "pig" EXACT [Orphanet:217557] +synonym: "PIG" EXACT ABBREVIATION [Orphanet:217557] +synonym: "pig" EXACT [] xref: GARD:20516 {source="MONDO:GARD"} xref: ICD10CM:J84.842 {source="MONDO:equivalentTo"} xref: ICD10CM:P22.8 {source="Orphanet:217557", source="Orphanet:217557/ntbt"} @@ -373857,7 +373930,7 @@ subset: rare synonym: "chronic tachypnoe of infancy" EXACT [https://orcid.org/0000-0003-0113-912X] synonym: "CTI" EXACT [https://orcid.org/0000-0003-0113-912X] synonym: "NCHI" EXACT ABBREVIATION [Orphanet:217560] -synonym: "NEHI" EXACT ABBREVIATION [Orphanet:217560] +synonym: "NEHI" EXACT ABBREVIATION [NCIT:C120169, Orphanet:217560] xref: GARD:20517 {source="MONDO:GARD"} xref: ICD10CM:J84.841 {source="MONDO:equivalentTo"} xref: icd11.foundation:1641999159 {source="MONDO:equivalentTo", source="Orphanet:217560"} @@ -373896,8 +373969,8 @@ id: MONDO:0016325 name: obsolete glycogen storage disease with hypertrophic cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease' subset: ordo_group_of_disorders {source="Orphanet:217572"} -synonym: "glycogenosis with hypertrophic cardiomyopathy" EXACT [Orphanet:217572] -synonym: "GSD with hypertrophic cardiomyopathy" EXACT [Orphanet:217572] +synonym: "glycogenosis with hypertrophic cardiomyopathy" EXACT [] +synonym: "GSD with hypertrophic cardiomyopathy" EXACT [] xref: ICD10CM:E74.0 {source="MONDO:relatedTo", source="Orphanet:217572/attributed", source="Orphanet:217572/ntbt", source="Orphanet:217572"} xref: Orphanet:217572 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -374134,12 +374207,12 @@ subset: ordo_disorder {source="Orphanet:217656"} subset: orphanet_rare {source="Orphanet:217656"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial isolated arrhythmogenic right ventricular cardiomyopathy" EXACT [Orphanet:217656] -synonym: "familial isolated arrhythmogenic right ventricular dysplasia" EXACT CLINGEN_LABEL [] -synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy" EXACT [Orphanet:217656] -synonym: "familial isolated arrhythmogenic ventricular dysplasia" EXACT [Orphanet:217656] -synonym: "familial isolated ARVC" EXACT [Orphanet:217656] -synonym: "familial isolated ARVD" EXACT [Orphanet:217656] +synonym: "familial isolated arrhythmogenic right ventricular cardiomyopathy" EXACT [] +synonym: "familial isolated arrhythmogenic right ventricular dysplasia" EXACT CLINGEN_LABEL [icd11.foundation:460188584, Orphanet:217656] +synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy" EXACT [] +synonym: "familial isolated arrhythmogenic ventricular dysplasia" EXACT [] +synonym: "familial isolated ARVC" EXACT [] +synonym: "familial isolated ARVD" EXACT [] xref: GARD:17129 {source="MONDO:GARD"} xref: ICD10CM:I42.8 {source="Orphanet:217656", source="Orphanet:217656/attributed", source="Orphanet:217656/ntbt"} xref: icd11.foundation:460188584 {source="MONDO:equivalentTo"} @@ -374176,7 +374249,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2177"} subset: orphanet_rare {source="Orphanet:2177"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hydranencephaly" EXACT [MONDO:ambiguous] +synonym: "hydranencephaly" EXACT [DOID:4626, icd11.foundation:1963574608, MONDO:ambiguous, NCIT:C98949, Orphanet:2177] synonym: "hydranencephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Hydroanencephaly" RELATED [GARD:0006681] xref: DOID:4626 {source="MONDO:equivalentTo"} @@ -374264,7 +374337,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2185"} subset: orphanet_rare {source="Orphanet:2185"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital hydrocephalus" EXACT [MONDO:patterns/congenital] +synonym: "congenital hydrocephalus" EXACT [ICD10CM:Q03, icd11.foundation:1878746673, MONDO:patterns/congenital, NCIT:C98876, Orphanet:2185] synonym: "HYC3" RELATED ABBREVIATION [] xref: GARD:6682 {source="MONDO:GARD"} xref: ICD10CM:Q03 {source="MONDO:equivalentTo"} @@ -374336,7 +374409,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/730/anti-hla id: MONDO:0016352 name: obsolete idiopathic inherited hypercalciuria subset: ordo_disorder {source="Orphanet:2197"} -synonym: "idiopathic hypercalciuria" RELATED [Orphanet:2197] +synonym: "idiopathic hypercalciuria" RELATED [] xref: ICD10CM:E83.5 {source="Orphanet:2197/ntbt", source="Orphanet:2197/inclusion", source="Orphanet:2197"} xref: Orphanet:2197 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -374468,7 +374541,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:220402"} subset: rare synonym: "limited cutaneous systemic scleroderma" EXACT [Orphanet:220402] -synonym: "limited scleroderma" EXACT [MONDO:0006832] +synonym: "limited scleroderma" EXACT [DOID:1577, MONDO:0006832] synonym: "systemic sclerosis, limited" EXACT [DOID:1577] xref: DOID:1577 {source="MONDO:equivalentTo", source="EFO:1001017"} xref: GARD:1053 {source="MONDO:GARD"} @@ -374495,7 +374568,7 @@ subset: rare synonym: "progressive systemic sclerosis sine scleroderma" RELATED [GARD:0009749] synonym: "Scleroderma, sine" RELATED [GARD:0009749] synonym: "SSC without skin involvement" EXACT [NCIT:C116789] -synonym: "systemic sclerosis sine scleroderma" EXACT [Orphanet:220407] +synonym: "systemic sclerosis sine scleroderma" EXACT [NCIT:C116789, Orphanet:220407] synonym: "systemic sclerosis without skin involvement" EXACT [NCIT:C116789] xref: GARD:9749 {source="MONDO:GARD"} xref: ICD10CM:M34.0 {source="Orphanet:220407/ntbt", source="Orphanet:220407"} @@ -374528,9 +374601,9 @@ id: MONDO:0016361 name: obsolete isolated hereditary giant platelet disorder subset: ordo_group_of_disorders {source="Orphanet:220452"} synonym: "isolated hereditary giant platelet disorder" EXACT CLINGEN_LABEL [] -synonym: "isolated hereditary macrothrombocytopenia" EXACT [Orphanet:220452] -synonym: "isolated inherited giant platelet disorder" EXACT [Orphanet:220452] -synonym: "isolated inherited macrothrombocytopenia" EXACT [Orphanet:220452] +synonym: "isolated hereditary macrothrombocytopenia" EXACT [] +synonym: "isolated inherited giant platelet disorder" EXACT [] +synonym: "isolated inherited macrothrombocytopenia" EXACT [] xref: ICD10CM:D69.1 {source="Orphanet:220452", source="Orphanet:220452/attributed", source="Orphanet:220452/ntbt"} xref: icd11.foundation:2069754587 {source="Orphanet:220452", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:220452 {source="MONDO:obsoleteEquivalent"} @@ -374553,7 +374626,7 @@ subset: rare synonym: "AAPC" EXACT ABBREVIATION [NCIT:C6729] synonym: "AFAP" EXACT ABBREVIATION [NCIT:C6729, Orphanet:220460] synonym: "attenuated adenomatous polyposis coli" EXACT [NCIT:C6729] -synonym: "attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [NCIT:C6729] +synonym: "attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [icd11.foundation:1023083906, NCIT:C6729, Orphanet:220460] synonym: "attenuated familial polyposis coli" EXACT [Orphanet:220460] synonym: "attenuated FAP" EXACT [Orphanet:220460] synonym: "hereditary flat adenoma syndrome" EXACT [NCIT:C6729] @@ -374577,7 +374650,7 @@ name: obsolete rare hereditary hemochromatosis def: "OBSOLETE. Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease." [Orphanet:220489] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:220489"} -synonym: "iron overload disease" BROAD [Orphanet:220489] +synonym: "iron overload disease" BROAD [] synonym: "rare hereditary hemochromatosis" EXACT [MONDO:patterns/rare] xref: ICD10CM:E83.1 {source="Orphanet:220489/attributed", source="Orphanet:220489/ntbt"} xref: ICD9:275.01 {source="EFO:0006513"} @@ -374602,8 +374675,8 @@ subset: rare synonym: "JBTS3" RELATED ABBREVIATION [GARD:0010168] synonym: "Joubert syndrome 3" RELATED [GARD:0010168] synonym: "Joubert syndrome with ocular anomalies" RELATED [GARD:0010168] -synonym: "Joubert syndrome with retinopathy" EXACT [Orphanet:220493] -synonym: "JS-O" EXACT [Orphanet:220493] +synonym: "Joubert syndrome with retinopathy" EXACT [icd11.foundation:1358617785, Orphanet:220493] +synonym: "JS-O" EXACT ABBREVIATION [Orphanet:220493] xref: GARD:10168 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:220493", source="MONDO:relatedTo", source="Orphanet:220493/attributed", source="Orphanet:220493/ntbt"} xref: ICD10CM:Q04.3 {source="Orphanet:220493", source="Orphanet:220493/attributed", source="Orphanet:220493/ntbt"} @@ -374660,7 +374733,7 @@ subset: rare synonym: "hyperphenylalaninemic embryopathy" EXACT [Orphanet:2209] synonym: "maternal hyperphenylalaninemia" EXACT [Orphanet:2209] synonym: "maternal PKU" EXACT [Orphanet:2209] -synonym: "phenylketonuric embryopathy" EXACT [Orphanet:2209] +synonym: "phenylketonuric embryopathy" EXACT [icd11.foundation:1509230254, Orphanet:2209] xref: GARD:3413 {source="MONDO:GARD"} xref: ICD10CM:E70.1 {source="Orphanet:2209", source="Orphanet:2209/attributed", source="Orphanet:2209/ntbt"} xref: icd11.foundation:1509230254 {source="MONDO:equivalentTo", source="Orphanet:2209", source="https://orcid.org/0000-0001-5208-3432"} @@ -374682,11 +374755,11 @@ subset: ordo_disorder {source="Orphanet:221"} subset: orphanet_rare {source="Orphanet:221"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult dermatomyositis" NARROW [GARD:0006263, Orphanet:221] +synonym: "adult dermatomyositis" NARROW [GARD:0006263] synonym: "Amyopathic dermatomyositis" RELATED [DOID:10223, MESH:C538250] -synonym: "dermatomyositis" EXACT [MONDO:0005014] +synonym: "dermatomyositis" EXACT [DOID:10223, icd11.foundation:739030149, MONDO:0005014, NCIT:C26744, Orphanet:221] synonym: "dermatopolymyositis" EXACT [DOID:10223] -synonym: "DM" EXACT ABBREVIATION [Orphanet:221] +synonym: "DM" EXACT ABBREVIATION [] synonym: "polymyositis with skin involvement" EXACT [DOID:10223] xref: DOID:10223 {source="EFO:0000398", source="MONDO:equivalentTo"} xref: EFO:0000398 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -374733,10 +374806,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:221008"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Poikiloderma Atrophicans and Cataract" RELATED [OMIM:618625] +synonym: "Poikiloderma Atrophicans and Cataract" RELATED [] synonym: "poikiloderma of Rothmund-Thomson type 1" EXACT [Orphanet:221008] -synonym: "ROTHMUND-THOMSON SYNDROME, TYPE 1" RELATED [OMIM:618625] -synonym: "RTS1" EXACT ABBREVIATION [Orphanet:221008] +synonym: "ROTHMUND-THOMSON SYNDROME, TYPE 1" RELATED [] +synonym: "RTS1" EXACT ABBREVIATION [OMIM:618625, Orphanet:221008] xref: GARD:17134 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:221008", source="Orphanet:221008/attributed", source="Orphanet:221008/ntbt"} xref: icd11.foundation:717855330 {source="MONDO:equivalentTo"} @@ -374758,8 +374831,8 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:221016"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "poikiloderma of Rothmund-Thomson type 2" EXACT [Orphanet:221016] -synonym: "Rothmund-Thomson syndrome, type 2" EXACT [OMIM:268400, OMIM:genemap2] -synonym: "RTS2" EXACT ABBREVIATION [Orphanet:221016] +synonym: "Rothmund-Thomson syndrome, type 2" EXACT [OMIM:268400] +synonym: "RTS2" EXACT ABBREVIATION [OMIM:268400, Orphanet:221016] xref: GARD:17135 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:221016", source="Orphanet:221016/attributed", source="Orphanet:221016/ntbt"} xref: icd11.foundation:2111040755 {source="MONDO:equivalentTo"} @@ -374826,8 +374899,8 @@ subset: ordo_disorder {source="Orphanet:221098"} subset: orphanet_rare {source="Orphanet:221098"} subset: rare synonym: "glossopharyngeal nerve neuralgia" EXACT [MONDO:patterns/location] -synonym: "glossopharyngeal neuralgia" EXACT [DOID:14423, ICD9CM:352.1] -synonym: "Glossovasopharyngeal neuralgia" EXACT [Orphanet:221098] +synonym: "glossopharyngeal neuralgia" EXACT [DOID:14423, ICD9CM:352.1, Orphanet:221098] +synonym: "Glossovasopharyngeal neuralgia" EXACT [] synonym: "neuralgia of glossopharyngeal nerve" EXACT [MONDO:design_pattern] xref: DOID:14423 {source="MONDO:equivalentTo"} xref: GARD:6519 {source="MONDO:GARD"} @@ -374868,7 +374941,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:221109"} subset: rare synonym: "cranial neuron projection bundle neuralgia" EXACT [MONDO:patterns/location] -synonym: "facial neuralgia" NARROW [Orphanet:221109] +synonym: "facial neuralgia" NARROW [] synonym: "neuralgia of cranial neuron projection bundle" EXACT [MONDO:design_pattern] xref: GARD:20542 {source="MONDO:GARD"} xref: MEDGEN:507603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -374996,7 +375069,7 @@ subset: orphanet_rare {source="Orphanet:2222"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital hypertrichosis lanuginosa" RELATED [GARD:0002865] -synonym: "hypertrichosis lanuginosa congenita" EXACT [OMIM:145700] +synonym: "hypertrichosis lanuginosa congenita" EXACT [icd11.foundation:199539869, OMIM:145700, Orphanet:2222] synonym: "hypertrichosis lanuginosa universalis" RELATED [GARD:0002865] synonym: "hypertrichosis universalis" EXACT [OMIM:145700, Orphanet:2222] xref: GARD:2865 {source="MONDO:GARD"} @@ -375165,12 +375238,12 @@ subset: ordo_disorder {source="Orphanet:2238"} subset: orphanet_rare {source="Orphanet:2238"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Familial Isolated Hypoparathyroidism" EXACT [NORD:1128] -synonym: "familial isolated hypoparathyroidism" EXACT [Orphanet:2238] -synonym: "FIH" EXACT ABBREVIATION [OMIM:146200] +synonym: "Familial Isolated Hypoparathyroidism" EXACT [DOID:0111387, NORD:1128, Orphanet:2238] +synonym: "familial isolated hypoparathyroidism" EXACT [DOID:0111387, Orphanet:2238] +synonym: "FIH" EXACT ABBREVIATION [DOID:0111387] synonym: "hypoparathyroidism familial isolated" EXACT [GARD:0002910] synonym: "hypoparathyroidism, familial" EXACT [OMIMPS:146200] -synonym: "hypoparathyroidism, familial isolated" EXACT [MONDO:Lexical, OMIM:146200] +synonym: "hypoparathyroidism, familial isolated" EXACT [MONDO:Lexical] xref: DOID:0111387 {source="MONDO:equivalentTo"} xref: GARD:2910 {source="MONDO:GARD"} xref: ICD10CM:E20.8 {source="Orphanet:2238", source="Orphanet:2238/attributed", source="Orphanet:2238/ntbt"} @@ -375198,8 +375271,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:224"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital diabetes mellitus" EXACT [NCIT:C99248] -synonym: "diabetes mellitus syndrome in newborn infant" EXACT [DOID:11717] +synonym: "congenital diabetes mellitus" EXACT [NCIT:C99248, Orphanet:224] +synonym: "diabetes mellitus syndrome in newborn infant" EXACT [DOID:11717, icd11.foundation:1217915084] synonym: "NDM" EXACT ABBREVIATION [Orphanet:224] xref: DOID:11717 {source="MONDO:equivalentTo"} xref: GARD:18682 {source="MONDO:GARD"} @@ -375312,10 +375385,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:2254"} subset: orphanet_rare {source="Orphanet:2254"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mental retardation, autosomal recessive 32" RELATED DEPRECATED [MONDO:Lexical, OMIM:614339] -synonym: "MRT32" EXACT ABBREVIATION [MONDO:0013701, MONDO:Lexical, OMIM:614339] -synonym: "Norman disease" EXACT [Orphanet:2254] -synonym: "PCH1" EXACT ABBREVIATION [Orphanet:2254] +synonym: "mental retardation, autosomal recessive 32" RELATED DEPRECATED [MONDO:Lexical] +synonym: "MRT32" EXACT ABBREVIATION [MONDO:0013701, MONDO:Lexical] +synonym: "Norman disease" EXACT [DOID:0112322, Orphanet:2254] +synonym: "PCH1" EXACT ABBREVIATION [DOID:0112322, Orphanet:2254] xref: DOID:0112322 {source="MONDO:equivalentTo"} xref: GARD:10704 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:2254", source="Orphanet:2254/attributed", source="Orphanet:2254/ntbt"} @@ -375508,7 +375581,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "central hypothyroidism" EXACT [NCIT:C113144] synonym: "hypothalamic-pituitary hypothyroidism" EXACT [NCIT:C113144] -synonym: "secondary hypothyroidism" EXACT [Orphanet:226298] +synonym: "secondary hypothyroidism" EXACT [NCIT:C113144, Orphanet:226298] synonym: "thyroid stimulating hormone deficiency" EXACT [NCIT:C113144] synonym: "thyrotropin deficiency" EXACT [NCIT:C113144] synonym: "TSH deficiency" EXACT [NCIT:C113144] @@ -375677,21 +375750,21 @@ subset: ordo_disorder {source="Orphanet:227535"} subset: orphanet_rare {source="Orphanet:227535"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "breast cancer susceptibility, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2] -synonym: "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2] -synonym: "breast cancer, familial" RELATED [OMIM:114480] -synonym: "breast cancer, familial Male" RELATED [OMIM:114480] -synonym: "breast cancer, invasive ductal, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2] -synonym: "breast cancer, lobular, somatic" EXACT [OMIM:114480, OMIM:genemap2] -synonym: "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2] -synonym: "breast cancer, protection against, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2] -synonym: "breast cancer, somatic" EXACT [OMIM:114480, OMIM:genemap2] -synonym: "breast cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:114480, OMIM:genemap2] +synonym: "breast cancer susceptibility, autosomal dominant, somatic mutation" EXACT [] +synonym: "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation" EXACT [] +synonym: "breast cancer, familial" RELATED [] +synonym: "breast cancer, familial Male" RELATED [] +synonym: "breast cancer, invasive ductal, autosomal dominant, somatic mutation" EXACT [] +synonym: "breast cancer, lobular, somatic" EXACT [] +synonym: "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation" EXACT [] +synonym: "breast cancer, protection against, autosomal dominant, somatic mutation" EXACT [] +synonym: "breast cancer, somatic" EXACT [] +synonym: "breast cancer, susceptibility to, autosomal dominant, somatic mutation" EXACT [] synonym: "familial breast cancer" EXACT [Orphanet:227535] synonym: "familial breast carcinoma" EXACT [NCIT:C4503, Orphanet:227535] synonym: "familial cancer of breast" EXACT [NCIT:C4503] synonym: "familial cancer of the breast" EXACT [NCIT:C4503] -synonym: "hereditary breast cancer" EXACT [NCIT:C4503] +synonym: "hereditary breast cancer" EXACT [NCIT:C4503, Orphanet:227535] synonym: "hereditary breast carcinoma" EXACT CLINGEN_LABEL [MONDO:patterns/hereditary, NCIT:C4503, Orphanet:227535] xref: GARD:17142 {source="MONDO:GARD"} xref: ICD10CM:C50.0 {source="Orphanet:227535/attributed", source="Orphanet:227535/btnt", source="Orphanet:227535"} @@ -375725,7 +375798,7 @@ subset: disease_grouping subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "hereditary flecked retinopathy" EXACT [Orphanet:227786] +synonym: "hereditary flecked retinopathy" EXACT [] xref: ICD10CM:H35.5 {source="Orphanet:227786", source="MONDO:relatedTo", source="Orphanet:227786/attributed", source="Orphanet:227786/ntbt"} xref: icd11.foundation:979898273 {source="MONDO:equivalentTo"} xref: Orphanet:227786 {source="MONDO:equivalentObsolete"} @@ -375759,8 +375832,8 @@ subset: orphanet_rare {source="Orphanet:227982"} subset: rare synonym: "APS type 3" EXACT [Orphanet:227982] synonym: "APS3" EXACT ABBREVIATION [Orphanet:227982] -synonym: "autoimmune polyendocrine syndrome type 3" EXACT [Orphanet:227982] -synonym: "autoimmune polyglandular syndrome type 3" EXACT [Orphanet:227982] +synonym: "autoimmune polyendocrine syndrome type 3" EXACT [icd11.foundation:1361747293, Orphanet:227982] +synonym: "autoimmune polyglandular syndrome type 3" EXACT [icd11.foundation:1361747293, Orphanet:227982] synonym: "PAS3" RELATED ABBREVIATION [GARD:0010980] synonym: "polyglandular autoimmune syndrome type 3" RELATED [GARD:0010980] xref: GARD:10980 {source="MONDO:GARD"} @@ -375784,8 +375857,8 @@ subset: orphanet_rare {source="Orphanet:227990"} subset: rare synonym: "APS type 4" EXACT [Orphanet:227990] synonym: "APS4" EXACT ABBREVIATION [Orphanet:227990] -synonym: "autoimmune polyendocrine syndrome type 4" EXACT [Orphanet:227990] -synonym: "autoimmune polyglandular syndrome type 4" EXACT [Orphanet:227990] +synonym: "autoimmune polyendocrine syndrome type 4" EXACT [icd11.foundation:1561026337, Orphanet:227990] +synonym: "autoimmune polyglandular syndrome type 4" EXACT [icd11.foundation:1561026337, Orphanet:227990] xref: GARD:20567 {source="MONDO:GARD"} xref: ICD10CM:E31.0 {source="Orphanet:227990", source="Orphanet:227990/ntbt"} xref: icd11.foundation:1561026337 {source="MONDO:equivalentTo"} @@ -375850,7 +375923,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Fusarium caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Fusarium disease or disorder" EXACT [] -synonym: "Fusarium infection" EXACT [Orphanet:228119] +synonym: "Fusarium infection" EXACT [icd11.foundation:565900954, Orphanet:228119] synonym: "Fusarium infectious disease" EXACT [] xref: DOID:0050289 {source="MONDO:equivalentTo"} xref: EFO:1001795 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -375913,8 +375986,8 @@ subset: nord_rare {source="NORD:835", source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:228165"} subset: orphanet_rare {source="Orphanet:228165"} subset: rare -synonym: "Balo concentric sclerosis" EXACT [MONDO:0000713] -synonym: "Balo Disease" EXACT [NORD:835] +synonym: "Balo concentric sclerosis" EXACT [DOID:0060215, MONDO:0000713] +synonym: "Balo Disease" EXACT [DOID:0060215, NORD:835] synonym: "Balo disease" RELATED [GARD:0005885] synonym: "Balo's concentric sclerosis" EXACT [DOID:0060215, GARD:0005885] synonym: "Balo's disease" RELATED [GARD:0005885] @@ -376003,7 +376076,7 @@ subset: ordo_disorder {source="Orphanet:2282"} subset: ordo_malformation_syndrome {source="Orphanet:2282"} subset: orphanet_rare {source="Orphanet:2282"} subset: rare -synonym: "Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome" EXACT [Orphanet:2282] +synonym: "Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome" EXACT [] xref: GARD:18764 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2282/attributed", source="Orphanet:2282/ntbt", source="Orphanet:2282"} xref: MEDGEN:1383129 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -376079,7 +376152,7 @@ subset: ordo_disorder {source="Orphanet:228236"} subset: orphanet_rare {source="Orphanet:228236"} subset: rare synonym: "Elastotic striae" EXACT [Orphanet:228236] -synonym: "linear focal elastosis" RELATED [Orphanet:228236] +synonym: "linear focal elastosis" RELATED [] xref: GARD:20579 {source="MONDO:GARD"} xref: MEDGEN:1666729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:228236 {source="MONDO:equivalentTo"} @@ -376137,7 +376210,7 @@ subset: ordo_disorder {source="Orphanet:228247"} subset: orphanet_rare {source="Orphanet:228247"} subset: rare synonym: "acquired Gronblad-Strandberg-Touraine syndrome" EXACT [Orphanet:228247] -synonym: "acquired pseudoxanthoma elasticum" EXACT [MONDO:patterns/acquired] +synonym: "acquired pseudoxanthoma elasticum" EXACT [icd11.foundation:2017339816, MONDO:patterns/acquired, Orphanet:228247] synonym: "acquired pseudoxanthoma elasticum (inherited or acquired)" EXACT [MONDO:patterns/acquired] synonym: "acquired PXE" EXACT [Orphanet:228247] synonym: "localised acquired cutaneous pseudoxanthoma elasticum" EXACT OMO:0003005 [] @@ -376183,9 +376256,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:228264"} subset: orphanet_rare {source="Orphanet:228264"} subset: rare -synonym: "disseminated nevus anelasticus" EXACT [Orphanet:228264] -synonym: "eruptive collagenoma" EXACT [Orphanet:228264] -synonym: "Nevus anelasticus" EXACT [Orphanet:228264] +synonym: "disseminated nevus anelasticus" EXACT [] +synonym: "eruptive collagenoma" EXACT [icd11.foundation:1231672259, NCIT:C4707] +synonym: "Nevus anelasticus" EXACT [icd11.foundation:1231672259] xref: GARD:20583 {source="MONDO:GARD"} xref: icd11.foundation:1231672259 {source="MONDO:equivalentTo"} xref: MEDGEN:1813032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -376251,7 +376324,7 @@ subset: ordo_disorder {source="Orphanet:228285"} subset: orphanet_rare {source="Orphanet:228285"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired cutis laxa" EXACT [MONDO:patterns/acquired] +synonym: "acquired cutis laxa" EXACT [icd11.foundation:807277512, MONDO:patterns/acquired, Orphanet:228285] synonym: "cutis laxa acquisita" EXACT [Orphanet:228285] xref: GARD:20586 {source="MONDO:GARD"} xref: icd11.foundation:807277512 {source="MONDO:equivalentTo"} @@ -376410,12 +376483,12 @@ subset: ordo_disorder {source="Orphanet:228374"} subset: orphanet_rare {source="Orphanet:228374"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AR-CMT2B5" EXACT [Orphanet:228374] +synonym: "AR-CMT2B5" EXACT ABBREVIATION [Orphanet:228374] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B5" EXACT [Orphanet:228374] -synonym: "Charcot-Marie-Tooth disease type 2B5" EXACT [Orphanet:228374] +synonym: "Charcot-Marie-Tooth disease type 2B5" EXACT [icd11.foundation:1603286685, Orphanet:228374] synonym: "SEOAN due to NEFL deficiency" EXACT [Orphanet:228374] synonym: "severe early-onset axonal neuropathy due to light neurofilament subunit deficiency" EXACT [Orphanet:228374] -synonym: "severe early-onset axonal neuropathy due to NEFL deficiency" EXACT [] +synonym: "severe early-onset axonal neuropathy due to NEFL deficiency" EXACT [Orphanet:228374] xref: GARD:17153 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:228374/attributed", source="Orphanet:228374/ntbt", source="Orphanet:228374"} xref: icd11.foundation:1603286685 {source="MONDO:equivalentTo"} @@ -376622,9 +376695,9 @@ subset: disease_grouping subset: gard_rare {source="GARD:20596", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:229720"} subset: rare -synonym: "hypogammaglobulinemia" BROAD [NCIT:C26931] +synonym: "hypogammaglobulinemia" BROAD [] synonym: "syndrome associated with agammaglobulinemia" EXACT [MONDO:patterns/syndromic] -synonym: "syndromic agammaglobulinemia" EXACT [MONDO:patterns/syndromic] +synonym: "syndromic agammaglobulinemia" EXACT [MONDO:patterns/syndromic, Orphanet:229720] synonym: "syndromic hypogammaglobulinemia" EXACT [] xref: GARD:20596 {source="MONDO:GARD"} xref: MEDGEN:1843258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -376675,9 +376748,9 @@ subset: orphanet_rare {source="Orphanet:2302"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "asbestos dust pneumoconiosis" EXACT [MONDO:patterns/environmental_stimulus] -synonym: "asbestos intoxication" RELATED [Orphanet:2302] -synonym: "asbestos pneumoconiosis" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "asbestosis" EXACT [MONDO:0005653] +synonym: "asbestos intoxication" RELATED [] +synonym: "asbestos pneumoconiosis" EXACT [https://orcid.org/0000-0002-6601-2165, icd11.foundation:898495881] +synonym: "asbestosis" EXACT [DOID:10320, icd11.foundation:898495881, MONDO:0005653, NCIT:C84573, Orphanet:2302] synonym: "idiopathic interstitial pneumonitis - from asbestos exposure" RELATED [GARD:0005852] synonym: "pneumoconiosis from asbestos dust" EXACT [] synonym: "pulmonary fibrosis - from asbestos exposure" RELATED [GARD:0005852] @@ -376716,7 +376789,7 @@ synonym: "Accutane foetal effects of" RELATED OMO:0003005 [] synonym: "Accutane-exposed pregnancies" RELATED [GARD:0000517] synonym: "Acutane embryopathy" RELATED [GARD:0000517] synonym: "fetal isotretinoin syndrome" EXACT [NCIT:C98929] -synonym: "Fetal Retinoid Syndrome" EXACT [NORD:1140] +synonym: "Fetal Retinoid Syndrome" EXACT [NCIT:C98929, NORD:1140] synonym: "fetal retinoid syndrome" EXACT [NCIT:C98929] synonym: "foetal isotretinoin syndrome" EXACT OMO:0003005 [] synonym: "foetal retinoid syndrome" EXACT OMO:0003005 [] @@ -376725,7 +376798,7 @@ synonym: "Isotretinoin embryopathy" EXACT [GARD:0000517, Orphanet:2305] synonym: "Isotretinoin fetal effects of" RELATED [GARD:0000517] synonym: "Isotretinoin foetal effects of" RELATED OMO:0003005 [] synonym: "Isotretinoin teratogen syndrome" RELATED [GARD:0000517] -synonym: "retinoic acid embryopathy" EXACT [Orphanet:2305] +synonym: "retinoic acid embryopathy" EXACT [NCIT:C98929, Orphanet:2305] synonym: "Retinoids embryopathy" EXACT [Orphanet:2305] xref: GARD:18765 {source="MONDO:GARD"} xref: ICD10CM:Q86.8 {source="Orphanet:2305", source="Orphanet:2305/ntbt"} @@ -376764,7 +376837,7 @@ name: Ehlers-Danlos syndrome, vascular-like type def: "Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." [Orphanet:230845] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "EDS, vascular-like type" EXACT [Orphanet:230845] +synonym: "EDS, vascular-like type" EXACT [] xref: ICD10CM:Q79.6 {source="Orphanet:230845/attributed", source="Orphanet:230845/ntbt", source="Orphanet:230845"} xref: icd11.foundation:240424885 {source="MONDO:equivalentTo"} xref: Orphanet:230845 {source="MONDO:equivalentObsolete"} @@ -376810,7 +376883,7 @@ synonym: "congenital pachyonychia" RELATED [GARD:0010753] synonym: "Jackson-Lawler type pachyonychia congenita" EXACT [DOID:0050449] synonym: "Jadassohn-Lewandowsky syndrome" EXACT [DOID:0050449] synonym: "pachyonychia congenita syndrome" RELATED [GARD:0010753] -synonym: "pachyonychia congenita type 1" NARROW [DOID:0050449] +synonym: "pachyonychia congenita type 1" NARROW [] synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" EXACT [DOID:0050449] synonym: "PC" EXACT ABBREVIATION [Orphanet:2309] xref: DOID:0050449 {source="MONDO:equivalentTo"} @@ -376840,12 +376913,12 @@ subset: ordo_disorder {source="Orphanet:231"} subset: orphanet_rare {source="Orphanet:231"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dracontiasis" EXACT [DOID:14418, ICD9CM:125.7] -synonym: "Dracunculosis" EXACT [NORD:1060, Orphanet:231] +synonym: "dracontiasis" EXACT [DOID:14418, icd11.foundation:1662537619, ICD9CM:125.7] +synonym: "Dracunculosis" EXACT [icd11.foundation:1662537619, NORD:1060, Orphanet:231] synonym: "Dracunculus medinensis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Dracunculus medinensis disease or disorder" EXACT [] synonym: "Dracunculus medinensis infectious disease" EXACT [] -synonym: "Guinea worm disease" EXACT [Orphanet:231] +synonym: "Guinea worm disease" EXACT [NCIT:C84677, Orphanet:231] synonym: "Guinea worm infection" RELATED [GARD:0006286] synonym: "GWD" RELATED ABBREVIATION [GARD:0006286] synonym: "infection by Dracunculus medinensis" EXACT [DOID:14418] @@ -376891,7 +376964,7 @@ synonym: "familial rhabdoid tumor" EXACT CLINGEN_LABEL [] synonym: "hereditary rhabdoid tumor" EXACT [MONDO:patterns/hereditary] synonym: "hereditary rhabdoid tumour" EXACT OMO:0003005 [] synonym: "rhabdoid predisposition syndrome" EXACT [NCIT:C93268] -synonym: "rhabdoid tumor predisposition syndrome" EXACT [NCIT:C93268, Orphanet:231108] +synonym: "rhabdoid tumor predisposition syndrome" EXACT [NCIT:C93268, OMIMPS:609322, Orphanet:231108] synonym: "rhabdoid tumour predisposition syndrome" EXACT OMO:0003005 [] synonym: "RTPS" EXACT ABBREVIATION [Orphanet:231108] xref: GARD:17159 {source="MONDO:GARD"} @@ -376918,7 +376991,7 @@ subset: ordo_disorder {source="Orphanet:231111"} subset: orphanet_rare {source="Orphanet:231111"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DIL" BROAD ABBREVIATION [DOID:0040093] +synonym: "DIL" BROAD ABBREVIATION [] synonym: "DILE" EXACT ABBREVIATION [DOID:0040093, Orphanet:231111] synonym: "drug induced lupus" EXACT [NCIT:C114354] synonym: "drug induced lupus erythematosus" EXACT [NCIT:C114354] @@ -376947,7 +377020,7 @@ subset: ordo_etiological_subtype {source="Orphanet:231117"} subset: ordo_subtype_of_a_disorder {source="Orphanet:231117"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15" EXACT [MONDORULE:7, Orphanet:231117] +synonym: "Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15" EXACT [MONDORULE:7] xref: GARD:20600 {source="MONDO:GARD"} xref: ICD10CM:Q87.3 {source="Orphanet:231117", source="Orphanet:231117/attributed", source="Orphanet:231117/ntbt"} xref: MEDGEN:1842606 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -377038,7 +377111,7 @@ subset: ordo_etiological_subtype {source="Orphanet:231140"} subset: ordo_subtype_of_a_disorder {source="Orphanet:231140"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Silver-Russell syndrome due to an imprinting defect of type 11p15" EXACT [MONDORULE:7, Orphanet:231140] +synonym: "Silver-Russell syndrome due to an imprinting defect of type 11p15" EXACT [MONDORULE:7] xref: GARD:20604 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:231140/attributed", source="Orphanet:231140/ntbt", source="Orphanet:231140"} xref: MEDGEN:1826102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -377074,7 +377147,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype {source="Orphanet:231147"} subset: ordo_subtype_of_a_disorder {source="Orphanet:231147"} subset: rare -synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2, Orphanet:231147] +synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2] synonym: "UPD(11)mat" EXACT [Orphanet:231147] xref: GARD:20606 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:231147", source="Orphanet:231147/attributed", source="Orphanet:231147/ntbt"} @@ -377099,7 +377172,7 @@ synonym: "aneurysm, intracranial berry" EXACT [OMIMPS:105800] synonym: "familial aneurysmal subarachnoid haemorrhage" EXACT OMO:0003005 [] synonym: "familial aneurysmal subarachnoid hemorrhage" EXACT [DOID:0060228] synonym: "familial berry aneurysm" EXACT [DOID:0060228, Orphanet:231160] -synonym: "familial cerebral saccular aneurysm" RELATED [Orphanet:231160] +synonym: "familial cerebral saccular aneurysm" RELATED [] synonym: "familial intracranial saccular aneurysm" EXACT [DOID:0060228, Orphanet:231160] synonym: "saccular cerebral aneurysm" EXACT [DOID:0060228] xref: DOID:0060228 {source="MONDO:equivalentTo"} @@ -377127,7 +377200,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:231178"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "USH2" EXACT ABBREVIATION [DOID:0110827, Orphanet:231178] -synonym: "Usher syndrome type 2" EXACT CLINGEN_LABEL [] +synonym: "Usher syndrome type 2" EXACT CLINGEN_LABEL [DOID:0110827, icd11.foundation:33632175, NCIT:C126328, Orphanet:231178] xref: DOID:0110827 {source="MONDO:equivalentTo"} xref: GARD:5440 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="Orphanet:231178/attributed", source="Orphanet:231178/ntbt", source="MONDO:relatedTo", source="Orphanet:231178", source="DOID:0110827"} @@ -377153,7 +377226,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:231183"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "USH3" EXACT ABBREVIATION [DOID:0110828, Orphanet:231183] -synonym: "Usher syndrome type 3" EXACT CLINGEN_LABEL [] +synonym: "Usher syndrome type 3" EXACT CLINGEN_LABEL [DOID:0110828, icd11.foundation:1734357568, NCIT:C126329, Orphanet:231183] xref: DOID:0110828 {source="MONDO:equivalentTo"} xref: GARD:5442 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:231183/attributed", source="Orphanet:231183/ntbt", source="DOID:0110828", source="Orphanet:231183"} @@ -377178,9 +377251,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Beta thalassemia Major" EXACT [NCIT:C129699] synonym: "Cooley anaemia" EXACT OMO:0003005 [] -synonym: "Cooley anemia" EXACT [Orphanet:231214] +synonym: "Cooley anemia" EXACT [NCIT:C129699, Orphanet:231214] synonym: "Cooley's Anaemia" EXACT OMO:0003005 [] -synonym: "Cooley's Anemia" EXACT [NCIT:C129699] +synonym: "Cooley's Anemia" EXACT [DOID:0080771, NCIT:C129699] synonym: "Mediterranean anaemia" EXACT OMO:0003005 [] synonym: "Mediterranean anemia" EXACT [Orphanet:231214] xref: DOID:0080771 {source="MONDO:equivalentTo"} @@ -377221,7 +377294,7 @@ name: obsolete beta-thalassemia associated with another hemoglobin anomaly def: "OBSOLETE. Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]." [Orphanet:231230] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: beta-thalassemia and related diseases' subset: ordo_group_of_disorders {source="Orphanet:231230"} -synonym: "Beta-thalassemia associated with another Hb anomaly" EXACT [Orphanet:231230] +synonym: "Beta-thalassemia associated with another Hb anomaly" EXACT [] xref: ICD10CM:D58.2 {source="Orphanet:231230", source="Orphanet:231230/attributed", source="Orphanet:231230/ntbt"} xref: Orphanet:231230 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -377308,8 +377381,8 @@ consider: MONDO:0017145 id: MONDO:0016493 name: obsolete variant of Guillain-Barre syndrome subset: ordo_group_of_disorders {source="Orphanet:231413"} -synonym: "variant of GBS" EXACT [Orphanet:231413] -synonym: "variant of Guillain-Barré syndrome" RELATED [Orphanet:231413] +synonym: "variant of GBS" EXACT [] +synonym: "variant of Guillain-Barré syndrome" RELATED [] xref: ICD10CM:G61.0 {source="Orphanet:231413", source="Orphanet:231413/ntbt"} xref: Orphanet:231413 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377323,8 +377396,8 @@ is_obsolete: true id: MONDO:0016494 name: obsolete regional variant of Guillain-Barre syndrome subset: ordo_group_of_disorders {source="Orphanet:231416"} -synonym: "regional variant of GBS" EXACT [Orphanet:231416] -synonym: "regional variant of Guillain-Barré syndrome" RELATED [Orphanet:231416] +synonym: "regional variant of GBS" EXACT [] +synonym: "regional variant of Guillain-Barré syndrome" RELATED [] xref: ICD10CM:G61.0 {source="Orphanet:231416", source="Orphanet:231416/ntbt"} xref: Orphanet:231416 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377338,8 +377411,8 @@ is_obsolete: true id: MONDO:0016495 name: obsolete functional variant of Guillain-Barre syndrome subset: ordo_group_of_disorders {source="Orphanet:231419"} -synonym: "functional variant of GBS" EXACT [Orphanet:231419] -synonym: "functional variant of Guillain-Barré syndrome" RELATED [Orphanet:231419] +synonym: "functional variant of GBS" EXACT [] +synonym: "functional variant of Guillain-Barré syndrome" RELATED [] xref: ICD10CM:G61.0 {source="Orphanet:231419/ntbt", source="Orphanet:231419"} xref: Orphanet:231419 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377358,12 +377431,12 @@ subset: ordo_disorder {source="Orphanet:231426"} subset: orphanet_rare {source="Orphanet:231426"} subset: rare synonym: "PCB variant of GBS" EXACT [Orphanet:231426] -synonym: "PCB variant of Guillain-Barre syndrome" EXACT [Orphanet:231426] +synonym: "PCB variant of Guillain-Barre syndrome" EXACT [] synonym: "PCB variant of Guillain-Barré syndrome" EXACT [Orphanet:231426] -synonym: "pharyngeal-cervical-brachial variant of Guillain-Barré syndrome" RELATED [Orphanet:231426] +synonym: "pharyngeal-cervical-brachial variant of Guillain-Barré syndrome" RELATED [] synonym: "pharyngeal-cervical-brachial weakness" EXACT [Orphanet:231426] synonym: "pharyngo-cervico-brachial variant of GBS" EXACT [Orphanet:231426] -synonym: "pharyngo-cervico-brachial variant of Guillain-Barre syndrome" EXACT [Orphanet:231426] +synonym: "pharyngo-cervico-brachial variant of Guillain-Barre syndrome" EXACT [] synonym: "pharyngo-cervico-brachial variant of Guillain-Barré syndrome" EXACT [Orphanet:231426] xref: GARD:20614 {source="MONDO:GARD"} xref: ICD10CM:G61.0 {source="Orphanet:231426/ntbt", source="Orphanet:231426"} @@ -377385,7 +377458,7 @@ subset: ordo_disorder {source="Orphanet:231445"} subset: orphanet_rare {source="Orphanet:231445"} subset: rare synonym: "paraparetic variant of GBS" EXACT [Orphanet:231445] -synonym: "paraparetic variant of Guillain-Barré syndrome" RELATED [Orphanet:231445] +synonym: "paraparetic variant of Guillain-Barré syndrome" RELATED [] xref: GARD:20615 {source="MONDO:GARD"} xref: ICD10CM:G61.0 {source="Orphanet:231445", source="Orphanet:231445/ntbt"} xref: MEDGEN:1644763 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -377405,7 +377478,7 @@ subset: ordo_disorder {source="Orphanet:231450"} subset: orphanet_rare {source="Orphanet:231450"} subset: rare synonym: "acute pure sensory GBS" EXACT [Orphanet:231450] -synonym: "acute pure sensory Guillain-Barre syndrome" EXACT [Orphanet:231450] +synonym: "acute pure sensory Guillain-Barre syndrome" EXACT [] synonym: "acute pure sensory Guillain-Barré syndrome" EXACT [Orphanet:231450] xref: GARD:20616 {source="MONDO:GARD"} xref: ICD10CM:G61.0 {source="Orphanet:231450", source="Orphanet:231450/ntbt"} @@ -377428,7 +377501,7 @@ subset: orphanet_rare {source="Orphanet:231457"} subset: rare synonym: "AAG" EXACT ABBREVIATION [https://www.dysautonomiainternational.org/page.php?ID=124] synonym: "acute panautonomic GBS" EXACT [Orphanet:231457] -synonym: "acute panautonomic Guillain-Barre syndrome" EXACT [Orphanet:231457] +synonym: "acute panautonomic Guillain-Barre syndrome" EXACT [] synonym: "acute panautonomic Guillain-Barré syndrome" EXACT [Orphanet:231457] synonym: "acute panautonomic neuropathy" EXACT [Orphanet:231457] synonym: "acute pandysautonomia" EXACT [https://www.dysautonomiainternational.org/page.php?ID=124, Orphanet:231457] @@ -377457,7 +377530,7 @@ subset: ordo_disorder {source="Orphanet:231466"} subset: orphanet_rare {source="Orphanet:231466"} subset: rare synonym: "acute sensory ataxic GBS" EXACT [Orphanet:231466] -synonym: "acute sensory ataxic Guillain-Barre syndrome" EXACT [Orphanet:231466] +synonym: "acute sensory ataxic Guillain-Barre syndrome" EXACT [] synonym: "acute sensory ataxic Guillain-Barré syndrome" EXACT [Orphanet:231466] synonym: "ASAN" EXACT ABBREVIATION [Orphanet:231466] xref: GARD:20618 {source="MONDO:GARD"} @@ -377558,7 +377631,7 @@ subset: ordo_disorder {source="Orphanet:231625"} subset: orphanet_rare {source="Orphanet:231625"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adrenocortical carcinoma with pure aldosterone hypersecretion" RELATED [Orphanet:231625] +synonym: "adrenocortical carcinoma with pure aldosterone hypersecretion" RELATED [] synonym: "aldosterone producing adrenal cortex adenoma" EXACT [NCIT:C48451] synonym: "aldosterone producing adrenal cortical adenoma" EXACT [NCIT:C48451] synonym: "aldosterone-producing adrenal cortex adenoma" EXACT [NCIT:C48451] @@ -377679,9 +377752,9 @@ subset: orphanet_rare {source="Orphanet:2322"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Kabuki make up syndrome" EXACT [DOID:0060473] -synonym: "Kabuki make-up syndrome" EXACT [Orphanet:2322] -synonym: "KMS" EXACT ABBREVIATION [DOID:0060473] -synonym: "Niikawa-Kuroki syndrome" EXACT [DOID:0060473, Orphanet:2322] +synonym: "Kabuki make-up syndrome" EXACT [NCIT:C124837, Orphanet:2322] +synonym: "KMS" EXACT ABBREVIATION [DOID:0060473, NCIT:C124837] +synonym: "Niikawa-Kuroki syndrome" EXACT [DOID:0060473, NCIT:C124837, Orphanet:2322] synonym: "NKS" RELATED ABBREVIATION [GARD:0006810] xref: DOID:0060473 {source="MONDO:equivalentTo"} xref: GARD:6810 {source="MONDO:GARD"} @@ -377731,7 +377804,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2325"} subset: orphanet_rare {source="Orphanet:2325"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Gamborg-Nielsen syndrome" EXACT [Orphanet:2325] +synonym: "Gamborg-Nielsen syndrome" EXACT [] synonym: "Kallin syndrome" EXACT [Orphanet:2325] xref: GARD:18766 {source="MONDO:GARD"} xref: ICD10CM:Q81.0 {source="Orphanet:2325", source="Orphanet:2325/attributed", source="Orphanet:2325/ntbt"} @@ -377810,8 +377883,8 @@ name: obsolete isolated punctate palmoplantar keratoderma def: "OBSOLETE. A punctate palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:2338"} -synonym: "isolated punctate palmoplantar hyperkeratosis" EXACT [Orphanet:2338] -synonym: "isolated punctate PPK" EXACT [Orphanet:2338] +synonym: "isolated punctate palmoplantar hyperkeratosis" EXACT [] +synonym: "isolated punctate PPK" EXACT [] synonym: "nonsyndromic punctate palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] xref: ICD10CM:Q82.8 {source="Orphanet:2338", source="Orphanet:2338/attributed", source="Orphanet:2338/ntbt"} xref: Orphanet:2338 {source="MONDO:obsoleteEquivalent"} @@ -377833,10 +377906,10 @@ id: MONDO:0016520 name: obsolete isolated Klippel-Feil syndrome def: "OBSOLETE. Klippel-Feil Syndrome is characterized by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae." [Orphanet:2345] subset: otar {source="MONDO:OTAR"} -synonym: "congenital cervical vertebral fusion" EXACT [Orphanet:2345] -synonym: "congenital fused cervical segments" EXACT [Orphanet:2345] -synonym: "Klippel-Feil malformation" EXACT [Orphanet:2345] -synonym: "Klippel-Feil sequence" EXACT [Orphanet:2345] +synonym: "congenital cervical vertebral fusion" EXACT [] +synonym: "congenital fused cervical segments" EXACT [] +synonym: "Klippel-Feil malformation" EXACT [] +synonym: "Klippel-Feil sequence" EXACT [] synonym: "nonsyndromic Klippel-Feil syndrome" EXACT [MONDO:patterns/isolated] xref: ICD10CM:Q76.1 {source="Orphanet:2345", source="Orphanet:2345/specific", source="Orphanet:2345/e"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -377855,8 +377928,8 @@ subset: ordo_disorder {source="Orphanet:2349"} subset: orphanet_rare {source="Orphanet:2349"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Hoffman syndrome" RELATED [Orphanet:2349] -synonym: "Kocher-Debre-Semelaigne syndrome" EXACT [Orphanet:2349] +synonym: "Hoffman syndrome" RELATED [] +synonym: "Kocher-Debre-Semelaigne syndrome" EXACT [] synonym: "Kocher-Debré-Semelaigne syndrome" EXACT [Orphanet:2349] xref: GARD:8270 {source="MONDO:GARD"} xref: ICD10CM:E03.1 {source="Orphanet:2349", source="Orphanet:2349/attributed", source="Orphanet:2349/ntbt"} @@ -377901,7 +377974,7 @@ subset: ordo_disorder {source="Orphanet:2357"} subset: ordo_morphological_anomaly {source="Orphanet:2357"} subset: orphanet_rare {source="Orphanet:2357"} subset: rare -synonym: "bronchogenic cyst" EXACT [MONDO:ambiguous] +synonym: "bronchogenic cyst" EXACT [icd11.foundation:355400995, MONDO:ambiguous, Orphanet:2357] synonym: "bronchogenic cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:1025 {source="MONDO:GARD"} xref: HP:0100730 {source="MONDO:otherHierarchy"} @@ -377942,7 +378015,7 @@ subset: ordo_group_of_disorders {source="Orphanet:371861", source="Orphanet:2359 subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FH" EXACT ABBREVIATION [Orphanet:235936] -synonym: "genetic hyperaldosteronism" EXACT [MONDO:0018300, MONDO:patterns/genetic] +synonym: "genetic hyperaldosteronism" EXACT [MONDO:0018300, MONDO:patterns/genetic, Orphanet:371861] synonym: "hereditary hyperaldosteronism" EXACT [MONDO:patterns/hereditary] xref: GARD:20630 {source="MONDO:GARD"} xref: ICD10CM:E26.0 {source="MONDO:relatedTo", source="Orphanet:371861", source="Orphanet:235936/attributed", source="Orphanet:235936/ntbt", source="Orphanet:235936", source="Orphanet:371861/attributed", source="Orphanet:371861/ntbt"} @@ -377986,9 +378059,9 @@ synonym: "partial duplication of the short arm of chromosome 9" EXACT [Orphanet: synonym: "partial trisomy 9p" EXACT [GARD:0005364] synonym: "partial trisomy of chromosome 9p" EXACT [Orphanet:262767] synonym: "partial trisomy of the short arm of chromosome 9" EXACT [MONDO:0016946] -synonym: "partial trisomy of the short arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262767] +synonym: "partial trisomy of the short arm of chromosome type 9" EXACT [MONDORULE:1] synonym: "trisomy of the short arm of chromosome 9" EXACT [Orphanet:236] -synonym: "trisomy type 9p" EXACT [MONDORULE:4, Orphanet:236] +synonym: "trisomy type 9p" EXACT [MONDORULE:4] xref: GARD:18683 {source="MONDO:GARD"} xref: ICD10CM:Q92.2 {source="Orphanet:236", source="Orphanet:236/attributed", source="Orphanet:236/ntbt"} xref: icd11.foundation:1126301219 {source="Orphanet:236", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -378011,8 +378084,8 @@ subset: ordo_disorder {source="Orphanet:2364"} subset: orphanet_rare {source="Orphanet:2364"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glycogenosis due to lactate dehydrogenase deficiency" EXACT [Orphanet:2364] -synonym: "GSD due to lactate dehydrogenase deficiency" EXACT [Orphanet:2364] +synonym: "glycogenosis due to lactate dehydrogenase deficiency" EXACT [icd11.foundation:1092207912, Orphanet:2364] +synonym: "GSD due to lactate dehydrogenase deficiency" EXACT [icd11.foundation:1092207912, Orphanet:2364] synonym: "lactate dehydrogenase deficiency" RELATED [GARD:0003159] synonym: "LDH deficiency" EXACT [Orphanet:2364] xref: GARD:3159 {source="MONDO:GARD"} @@ -378130,7 +378203,7 @@ synonym: "encephalopathy of childhood" RELATED [GARD:0009912] synonym: "epileptic encephalopathy Lennox-Gastaut type" RELATED [GARD:0009912] synonym: "Lennox syndrome" EXACT [DOID:0050561] synonym: "LGS" EXACT ABBREVIATION [NCIT:C84816] -synonym: "macrocephaly and epileptic encephalopathy" RELATED [OMIM:606369] +synonym: "macrocephaly and epileptic encephalopathy" RELATED [] xref: DOID:0050561 {source="MONDO:equivalentTo"} xref: GARD:9912 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:2382/ntbt", source="Orphanet:2382/inclusion", source="Orphanet:2382"} @@ -378201,17 +378274,17 @@ subset: ordo_disorder {source="Orphanet:238468"} subset: orphanet_rare {source="Orphanet:238468"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anhidrotic ectodermal dysplasia" EXACT [GARD:0000076, Orphanet:238468] +synonym: "anhidrotic ectodermal dysplasia" EXACT [GARD:0000076, icd11.foundation:673167184, Orphanet:238468] synonym: "anhidrotic ectodermal dysplasia 1" EXACT [NCIT:C84562] -synonym: "anhidrotic ectodermal dysplasia 3" EXACT [DOID:14793] -synonym: "Christ-Siemens-Touraine syndrome" RELATED EXCLUDE [DOID:14793] +synonym: "anhidrotic ectodermal dysplasia 3" EXACT [] +synonym: "Christ-Siemens-Touraine syndrome" RELATED EXCLUDE [] synonym: "CST syndrome" RELATED [GARD:0000076] -synonym: "ectodermal dysplasia 1, Anhydrotic" EXACT [DOID:14793] +synonym: "ectodermal dysplasia 1, Anhydrotic" EXACT [] synonym: "ectodermal dysplasia anhidrotic" RELATED [GARD:0000076] synonym: "ectodermal dysplasia, hypohidrotic" RELATED [GARD:0000076] synonym: "EDA" RELATED ABBREVIATION [GARD:0000076] synonym: "HED" EXACT ABBREVIATION [GARD:0000076, Orphanet:238468] -synonym: "hypohidrotic X-linked ectodermal dysplasia" EXACT [DOID:14793] +synonym: "hypohidrotic X-linked ectodermal dysplasia" EXACT [] xref: DOID:14793 {source="MONDO:equivalentTo"} xref: GARD:76 {source="MONDO:GARD"} xref: HP:0007607 {source="MONDO:otherHierarchy"} @@ -378239,7 +378312,7 @@ name: obsolete autosomal recessive lymphoproliferative disease def: "OBSOLETE. A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia." [Orphanet:238505] subset: ordo_disorder {source="Orphanet:238505"} subset: otar {source="MONDO:OTAR"} -synonym: "CD27 deficiency" EXACT [Orphanet:238505] +synonym: "CD27 deficiency" EXACT [] xref: ICD10CM:D47.9 {source="Orphanet:238505/attributed", source="Orphanet:238505/ntbt", source="Orphanet:238505"} xref: NANDO:2200735 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:238505 {source="MONDO:obsoleteEquivalent"} @@ -378328,7 +378401,7 @@ subset: gard_rare {source="GARD:20636", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:238547"} subset: rare synonym: "acquired secondary erythrocytosis" EXACT [Orphanet:238547] -synonym: "acquired secondary polycythemia" EXACT [MONDO:patterns/acquired] +synonym: "acquired secondary polycythemia" EXACT [MONDO:patterns/acquired, Orphanet:238547] xref: GARD:20636 {source="MONDO:GARD"} xref: ICD10CM:D75.1 {source="Orphanet:238547", source="Orphanet:238547/ntbt"} xref: Orphanet:238547 {source="MONDO:equivalentTo"} @@ -378371,10 +378444,10 @@ subset: ordo_disorder {source="Orphanet:238583"} subset: orphanet_rare {source="Orphanet:238583"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyperphenylalaninemia" BROAD [Orphanet:238583] +synonym: "hyperphenylalaninemia" BROAD [] synonym: "hyperphenylalaninemia due to BH4 deficiency" EXACT [Orphanet:238583] synonym: "hyperphenylalaninemia due to tetrahydrobiopterin deficiency" EXACT [Orphanet:238583] -synonym: "non-phenylketonuric hyperphenylalaninemia" EXACT [Orphanet:238583] +synonym: "non-phenylketonuric hyperphenylalaninemia" EXACT [] xref: GARD:7751 {source="MONDO:GARD"} xref: ICD10CM:E70.1 {source="Orphanet:238583", source="Orphanet:238583/attributed", source="Orphanet:238583/ntbt"} xref: MEDGEN:199656 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -378402,7 +378475,7 @@ synonym: "isolated mesenteric lipodystrophy" EXACT [Orphanet:238593] synonym: "lipomatous mesenteritis" EXACT [Orphanet:238593] synonym: "liposclerotic mesenteritis" EXACT [Orphanet:238593] synonym: "mesenteric lipogranuloma" EXACT [Orphanet:238593] -synonym: "Mesenteric Panniculitis" EXACT [NORD:1699] +synonym: "Mesenteric Panniculitis" EXACT [NORD:1699, Orphanet:238593] synonym: "mesenteric panniculitis" EXACT [Orphanet:238593] synonym: "sclerosing mesenteritis" EXACT [Orphanet:238593] xref: GARD:8169 {source="MONDO:GARD"} @@ -378444,7 +378517,8 @@ subset: orphanet_rare {source="Orphanet:238606"} subset: rare synonym: "orthostatic tremor, primary" RELATED [GARD:0008563] synonym: "OT" RELATED ABBREVIATION [GARD:0008563] -synonym: "pot" EXACT [Orphanet:238606] +synonym: "POT" EXACT ABBREVIATION [Orphanet:238606] +synonym: "pot" EXACT [] synonym: "shaky leg syndrome" RELATED [GARD:0008563] xref: GARD:8563 {source="MONDO:GARD"} xref: ICD10CM:G25.2 {source="Orphanet:238606", source="Orphanet:238606/ntbt"} @@ -378659,10 +378733,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bimanual synkinesis" RELATED [GARD:0012551] synonym: "CMM" RELATED ABBREVIATION [GARD:0012551] -synonym: "congenital mirror movement disorder" RELATED [DOID:0111153, GARD:0012551] +synonym: "congenital mirror movement disorder" RELATED [GARD:0012551] synonym: "congenital mirror movements" RELATED [GARD:0012551] synonym: "familial congenital controlateral synkinesia" EXACT [DOID:0111153, Orphanet:238722] -synonym: "familial congenital mirror movements" EXACT [DOID:0111153] +synonym: "familial congenital mirror movements" EXACT [DOID:0111153, icd11.foundation:1966778637, Orphanet:238722] synonym: "hereditary congenital controlateral synkinesia" EXACT [DOID:0111153, Orphanet:238722] synonym: "hereditary congenital mirror movements" EXACT [DOID:0111153, Orphanet:238722] synonym: "isolated congenital controlateral synkinesia" EXACT [DOID:0111153, Orphanet:238722] @@ -378746,7 +378820,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:240094"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PSP-PAGF" EXACT [Orphanet:240094] +synonym: "PSP-PAGF" EXACT ABBREVIATION [Orphanet:240094] synonym: "PSP-pure akinesia with gait freezing" EXACT [Orphanet:240094] xref: GARD:20647 {source="MONDO:GARD"} xref: ICD10CM:G23.1 {source="Orphanet:240094/attributed", source="Orphanet:240094/ntbt", source="Orphanet:240094"} @@ -378764,7 +378838,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:240103"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PSP-CBS" EXACT [Orphanet:240103] +synonym: "PSP-CBS" EXACT ABBREVIATION [Orphanet:240103] synonym: "PSP-corticobasal syndrome" EXACT [Orphanet:240103] xref: GARD:20648 {source="MONDO:GARD"} xref: ICD10CM:G23.1 {source="Orphanet:240103", source="Orphanet:240103/attributed", source="Orphanet:240103/ntbt"} @@ -378783,8 +378857,8 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:240112"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "progressive supranuclear palsy-apraxia of speech syndrome" EXACT [Orphanet:240112] -synonym: "PSP-AOS" EXACT [Orphanet:240112] -synonym: "PSP-PNFA" EXACT [Orphanet:240112] +synonym: "PSP-AOS" EXACT ABBREVIATION [Orphanet:240112] +synonym: "PSP-PNFA" EXACT ABBREVIATION [Orphanet:240112] xref: GARD:20649 {source="MONDO:GARD"} xref: ICD10CM:G23.1 {source="Orphanet:240112", source="Orphanet:240112/attributed", source="Orphanet:240112/ntbt"} xref: MEDGEN:1842806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -378847,8 +378921,8 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1376"} subset: ordo_disorder {source="Orphanet:2406"} subset: orphanet_rare {source="Orphanet:2406"} subset: rare -synonym: "Cerebromedullospinal disconnection" EXACT [Orphanet:2406] -synonym: "Locked In Syndrome" EXACT [NORD:1376] +synonym: "Cerebromedullospinal disconnection" EXACT [] +synonym: "Locked In Syndrome" EXACT [DOID:12697, NORD:1376] synonym: "locked in syndrome" EXACT [DOID:12697] synonym: "locked-in state" EXACT [DOID:12697, ICD9CM:344.81] xref: DOID:12697 {source="MONDO:equivalentTo"} @@ -379035,7 +379109,7 @@ synonym: "Dextrocardia-bronchiectasis-sinusitis syndrome" RELATED [GARD:0006815] synonym: "ICS" RELATED ABBREVIATION [GARD:0004484] synonym: "Immotile cilia syndrome, Kartagener type" RELATED [GARD:0006815] synonym: "immotile ciliary syndrome" EXACT [DOID:9562] -synonym: "Kartagener syndrome" EXACT [MONDO:0000260] +synonym: "Kartagener syndrome" EXACT [DOID:0050144, MONDO:0000260, NCIT:C84797] synonym: "Kartagener's syndrome" EXACT [DOID:0050144, https://orcid.org/0000-0002-6601-2165] synonym: "PCD" EXACT ABBREVIATION [Orphanet:244] synonym: "Primary ciliary dyskinesia and situs inversus" RELATED [GARD:0006815] @@ -379081,16 +379155,16 @@ subset: ordo_malformation_syndrome {source="Orphanet:2440"} subset: orphanet_rare {source="Orphanet:2440"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectrodactyly" EXACT [Orphanet:2440] -synonym: "FEWER digits" EXACT [NCIT:C75000] -synonym: "isolated split hand-split foot malformation" RELATED [Orphanet:2440] -synonym: "lobster-claw deformity" EXACT [DOID:0090020, Orphanet:2440] +synonym: "ectrodactyly" EXACT [NCIT:C75000, Orphanet:2440] +synonym: "FEWER digits" EXACT [] +synonym: "isolated split hand-split foot malformation" RELATED [] +synonym: "lobster-claw deformity" EXACT [DOID:0090020] synonym: "SHFM" EXACT ABBREVIATION [Orphanet:2440] synonym: "split hand foot malformation" EXACT [Orphanet:2440] -synonym: "split hand-split foot malformation" RELATED [Orphanet:2440] +synonym: "split hand-split foot malformation" RELATED [] synonym: "Split Hand/Split Foot Malformation" EXACT [NORD:1731] synonym: "split-hand deformity" EXACT [DOID:0090020] -synonym: "split-hand/foot malformation" EXACT [NCIT:C75000] +synonym: "split-hand/foot malformation" EXACT [NCIT:C75000, OMIMPS:183600] xref: DOID:0090020 {source="MONDO:equivalentTo"} xref: GARD:6319 {source="MONDO:GARD"} xref: ICD10CM:Q71.6 {source="Orphanet:2440", source="DOID:0090020", source="Orphanet:2440/btnt", source="Orphanet:2440/specific"} @@ -379137,9 +379211,9 @@ name: obsolete mitochondrial oxidative phosphorylation disorder due to nuclear D def: "OBSOLETE. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis." [Orphanet:2443] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' subset: ordo_group_of_disorders {source="Orphanet:2443"} -synonym: "mitochondrial oxidative phosphorylation disorder due to nDNA anomalies" EXACT [Orphanet:2443] -synonym: "OXPHOS disease due to nDNA anomalies" EXACT [Orphanet:2443] -synonym: "OXPHOS disease due to nuclear DNA anomalies" EXACT [Orphanet:2443] +synonym: "mitochondrial oxidative phosphorylation disorder due to nDNA anomalies" EXACT [] +synonym: "OXPHOS disease due to nDNA anomalies" EXACT [] +synonym: "OXPHOS disease due to nuclear DNA anomalies" EXACT [] xref: Orphanet:2443 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -379172,7 +379246,7 @@ subset: rare synonym: "CCAM" EXACT ABBREVIATION [Orphanet:2444] synonym: "congenital cystic adenomatoid malformation" RELATED [GARD:0006232] synonym: "congenital cystic adenomatoid malformation of lung" EXACT [NCIT:C98892] -synonym: "congenital cystic adenomatoid malformation of the lung" EXACT [Orphanet:2444] +synonym: "congenital cystic adenomatoid malformation of the lung" EXACT [NCIT:C98892, Orphanet:2444] synonym: "congenital cystic adenomatous malformation of the lung" EXACT [Orphanet:2444] synonym: "congenital cystic disease of the lung" EXACT [Orphanet:2444] synonym: "CPAM" EXACT ABBREVIATION [Orphanet:2444] @@ -379202,16 +379276,16 @@ subset: gard_rare {source="GARD:8189", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:2445"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "conotruncal anomaly face syndrome" RELATED [OMIM:217095] +synonym: "conotruncal anomaly face syndrome" RELATED [] synonym: "conotruncal cardiac defects" RELATED [GARD:0008189] -synonym: "conotruncal heart malformations" EXACT [MONDO:Lexical, OMIM:217095] -synonym: "conotruncal heart malformations, variable" EXACT [OMIM:217095, OMIM:genemap2] -synonym: "CTHM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:217095] -synonym: "Double-outlet right ventricle" RELATED [OMIM:217095] -synonym: "interrupted aortic Arch" RELATED [OMIM:217095] -synonym: "persistent truncus arteriosus" RELATED [OMIM:217095] -synonym: "Taussig-Bing syndrome or defect" EXACT [DOID:6406] -synonym: "truncus arteriosus communis" RELATED [OMIM:217095] +synonym: "conotruncal heart malformations" EXACT [MONDO:Lexical, OMIM:217095, Orphanet:2445] +synonym: "conotruncal heart malformations, variable" EXACT [] +synonym: "CTHM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Double-outlet right ventricle" RELATED [] +synonym: "interrupted aortic Arch" RELATED [] +synonym: "persistent truncus arteriosus" RELATED [] +synonym: "Taussig-Bing syndrome or defect" EXACT [] +synonym: "truncus arteriosus communis" RELATED [] xref: GARD:8189 {source="MONDO:GARD"} xref: ICD9:747.11 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:341803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -379254,7 +379328,7 @@ subset: obsoletion_candidate subset: ordo_malformation_syndrome {source="Orphanet:2454"} synonym: "intestinal malrotation facial anomalies familial type" RELATED [GARD:0005000] synonym: "Stalker Chitayat syndrome" RELATED [GARD:0005000] -synonym: "Stalker-Chitayat syndrome" EXACT [Orphanet:2454] +synonym: "Stalker-Chitayat syndrome" EXACT [] xref: ICD10CM:Q43.3 {source="Orphanet:2454", source="Orphanet:2454/attributed", source="Orphanet:2454/ntbt"} xref: Orphanet:2454 {source="MONDO:equivalentObsolete"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease @@ -379277,7 +379351,7 @@ subset: orphanet_rare {source="Orphanet:2457"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MAD" EXACT ABBREVIATION [Orphanet:2457] -synonym: "mandibuloacral dysplasia with lipodystrophy" EXACT [MONDO:0000056] +synonym: "mandibuloacral dysplasia with lipodystrophy" EXACT [MONDO:0000056, OMIMPS:248370] xref: DOID:0081127 {source="MONDO:equivalentTo"} xref: GARD:11893 {source="MONDO:GARD"} xref: ICD10CM:Q87.5 {source="Orphanet:2457", source="Orphanet:2457/attributed", source="Orphanet:2457/ntbt"} @@ -379311,15 +379385,15 @@ subset: ordo_group_of_disorders {source="Orphanet:2467"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Aggressive systemic mastocytosis" RELATED [GARD:0008616] -synonym: "Mast cell disease" BROAD [Orphanet:2467] +synonym: "Mast cell disease" BROAD [] synonym: "SM" RELATED ABBREVIATION [ONCOTREE:SM] synonym: "SMCD - systemic mast cell disease" EXACT [DOID:349] synonym: "systemic mast cell disease" RELATED [GARD:0008616] -synonym: "systemic mastocytosis" EXACT [MONDO:0002663, NCIT:C9235] +synonym: "systemic mastocytosis" EXACT [DOID:349, icd11.foundation:1144812971, MONDO:0002663, NCIT:C9235, Orphanet:2467] synonym: "systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD)" RELATED [GARD:0008616] -synonym: "systemic mastocytosis, NOS" RELATED EXCLUDE [NCIT:C9235] -synonym: "systemic tissue Mast cell disease" EXACT [NCIT:C9235] -synonym: "systemic tissue mast cell disease" EXACT [DOID:349] +synonym: "systemic mastocytosis, NOS" RELATED EXCLUDE [] +synonym: "systemic tissue Mast cell disease" EXACT [DOID:349, icd11.foundation:1144812971, NCIT:C9235] +synonym: "systemic tissue mast cell disease" EXACT [DOID:349, icd11.foundation:1144812971, NCIT:C9235] xref: DOID:349 {source="MONDO:equivalentTo"} xref: GARD:8616 {source="MONDO:GARD"} xref: ICD10CM:C96.2 {source="Orphanet:2467/ntbt", source="Orphanet:2467"} @@ -379346,13 +379420,13 @@ subset: gard_rare {source="GARD:5847", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:247"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arrhythmogenic right ventricular cardiomyopathy" EXACT CLINGEN_LABEL [GARD:0005847] -synonym: "arrhythmogenic right ventricular dysplasia" EXACT [DOID:0050431, Orphanet:247] +synonym: "arrhythmogenic right ventricular cardiomyopathy" EXACT CLINGEN_LABEL [DOID:0050431, GARD:0005847, NCIT:C84571, Orphanet:247] +synonym: "arrhythmogenic right ventricular dysplasia" EXACT [DOID:0050431, NCIT:C84571] synonym: "arrhythmogenic right ventricular dysplasia/cardiomyopathy" EXACT [DOID:0050431] synonym: "arrhythmogenic RVD" EXACT [NCIT:C84571] -synonym: "ARVC" EXACT ABBREVIATION [DOID:0050431, Orphanet:247] +synonym: "ARVC" EXACT ABBREVIATION [DOID:0050431] synonym: "ARVC cardiomyopathy" EXACT [DOID:0050431] -synonym: "ARVD" EXACT ABBREVIATION [DOID:0050431, GARD:0005847, Orphanet:247] +synonym: "ARVD" EXACT ABBREVIATION [DOID:0050431, GARD:0005847, NCIT:C84571] synonym: "right ventricular dysplasia" EXACT [NCIT:C84571] xref: DOID:0050431 {source="MONDO:equivalentTo"} xref: GARD:5847 {source="MONDO:GARD"} @@ -379403,7 +379477,7 @@ id: MONDO:0016589 name: obsolete progressive cerebello-cerebral atrophy subset: ordo_disorder {source="Orphanet:247198"} subset: otar {source="MONDO:OTAR"} -synonym: "PCCA" EXACT ABBREVIATION [Orphanet:247198] +synonym: "PCCA" EXACT ABBREVIATION [] xref: Orphanet:247198 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -379456,7 +379530,7 @@ subset: gard_rare {source="GARD:20656", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:247242"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired ataxia" EXACT [MONDO:patterns/acquired] +synonym: "acquired ataxia" EXACT [icd11.foundation:71197968, MONDO:patterns/acquired, Orphanet:247242] xref: GARD:20656 {source="MONDO:GARD"} xref: icd11.foundation:71197968 {source="MONDO:equivalentTo", source="Orphanet:247242"} xref: MEDGEN:927781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -379501,7 +379575,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:247257"} subset: orphanet_rare {source="Orphanet:247257"} subset: rare -synonym: "inhalation anthrax" RELATED [DOID:0050160] +synonym: "inhalation anthrax" RELATED [] synonym: "inhalation anthrax disease" EXACT [Orphanet:247257] synonym: "pulmonary anthrax" EXACT [DOID:0050160, Orphanet:247257] synonym: "respiratory anthrax" EXACT [DOID:0050160, Orphanet:247257] @@ -379530,10 +379604,10 @@ subset: ordo_disorder {source="Orphanet:247262"} subset: orphanet_rare {source="Orphanet:247262"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HPMR" EXACT ABBREVIATION [Orphanet:247262] -synonym: "hyperphosphatasia with intellectual disability syndrome" EXACT [OMIMPS:239300] -synonym: "hyperphosphatasia with mental retardation syndrome" EXACT DEPRECATED [OMIMPS:239300] -synonym: "Mabry syndrome" EXACT [Orphanet:247262] +synonym: "HPMR" EXACT ABBREVIATION [] +synonym: "hyperphosphatasia with intellectual disability syndrome" EXACT [] +synonym: "hyperphosphatasia with mental retardation syndrome" EXACT DEPRECATED [DOID:0070431, OMIMPS:239300] +synonym: "Mabry syndrome" EXACT [DOID:0070431, Orphanet:247262] xref: DOID:0070431 {source="MONDO:equivalentTo"} xref: GARD:17188 {source="MONDO:GARD"} xref: MEDGEN:383800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -379581,7 +379655,7 @@ name: obsolete autosomal dominant secondary polycythemia def: "OBSOLETE. Autosomal dominant form of secondary polycythemia." [MONDO:patterns/autosomal_dominant] subset: ordo_disorder {source="Orphanet:247511"} subset: otar {source="MONDO:OTAR"} -synonym: "autosomal dominant secondary erythrocytosis" EXACT [Orphanet:247511] +synonym: "autosomal dominant secondary erythrocytosis" EXACT [] synonym: "secondary polycythemia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: ICD10CM:D75.1 {source="Orphanet:247511/attributed", source="Orphanet:247511/ntbt", source="Orphanet:247511"} xref: Orphanet:247511 {source="MONDO:obsoleteEquivalent"} @@ -379603,8 +379677,8 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:247546"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute neonatal citrullinemia type 1" EXACT [Orphanet:247546] -synonym: "classic citrullinemia type 1" EXACT [Orphanet:247546] -synonym: "classic citrullinemia type I" EXACT [Orphanet:247546] +synonym: "classic citrullinemia type 1" EXACT [] +synonym: "classic citrullinemia type I" EXACT [] xref: GARD:20659 {source="MONDO:GARD"} xref: ICD10CM:E72.2 {source="Orphanet:247546/attributed", source="Orphanet:247546/ntbt", source="Orphanet:247546"} xref: MEDGEN:1843387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -379626,7 +379700,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:247573"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult-onset citrullinemia type 1" EXACT [Orphanet:247573] +synonym: "adult-onset citrullinemia type 1" EXACT [] synonym: "late-onset citrullinemia type 1" EXACT [Orphanet:247573] synonym: "late-onset citrullinemia type I" EXACT [Orphanet:247573] xref: GARD:20660 {source="MONDO:GARD"} @@ -379647,7 +379721,7 @@ subset: gard_rare {source="GARD:20661", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:247582"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "citrin deficiency" EXACT CLINGEN_LABEL [] +synonym: "citrin deficiency" EXACT CLINGEN_LABEL [icd11.foundation:348535193, Orphanet:247582] xref: GARD:20661 {source="MONDO:GARD"} xref: ICD10CM:E72.2 {source="Orphanet:247582/attributed", source="Orphanet:247582/ntbt", source="Orphanet:247582"} xref: icd11.foundation:348535193 {source="MONDO:equivalentTo"} @@ -379672,10 +379746,10 @@ subset: orphanet_rare {source="Orphanet:247585"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adult-onset citrin deficiency" EXACT [Orphanet:247585] -synonym: "adult-onset type 2 citrullinemia" EXACT [Orphanet:247585] -synonym: "adult-onset type II citrullinemia" EXACT [Orphanet:247585] +synonym: "adult-onset type 2 citrullinemia" EXACT [] +synonym: "adult-onset type II citrullinemia" EXACT [] synonym: "citrullinemia type 2" EXACT [Orphanet:247585] -synonym: "citrullinemia type II" EXACT CLINGEN_LABEL [NCIT:C150603] +synonym: "citrullinemia type II" EXACT CLINGEN_LABEL [NCIT:C150603, Orphanet:247585] synonym: "CTLN2" EXACT ABBREVIATION [NCIT:C150603, Orphanet:247585] xref: GARD:10215 {source="MONDO:GARD"} xref: ICD10CM:E72.2 {source="Orphanet:247585/attributed", source="Orphanet:247585/ntbt", source="Orphanet:247585"} @@ -379715,10 +379789,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:247623"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HPPN" EXACT ABBREVIATION [OMIM:241500] +synonym: "HPPN" EXACT ABBREVIATION [] synonym: "hypophosphatasia, perinatal lethal" RELATED [] synonym: "perinatal lethal phosphoethanolaminuria" EXACT [Orphanet:247623] -synonym: "perinatal lethal Rathburn disease" EXACT [Orphanet:247623] +synonym: "perinatal lethal Rathburn disease" EXACT [] xref: GARD:17191 {source="MONDO:GARD"} xref: ICD10CM:E83.3 {source="Orphanet:247623/attributed", source="Orphanet:247623/ntbt", source="MONDO:relatedTo", source="Orphanet:247623"} xref: MEDGEN:392928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -379734,8 +379808,8 @@ id: MONDO:0016606 name: obsolete prenatal benign hypophosphatasia def: "OBSOLETE. Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease." [Orphanet:247638] subset: ordo_subtype_of_a_disorder {source="Orphanet:247638"} -synonym: "prenatal benign phosphoethanolaminuria" EXACT [Orphanet:247638] -synonym: "prenatal benign Rathburn disease" EXACT [Orphanet:247638] +synonym: "prenatal benign phosphoethanolaminuria" EXACT [] +synonym: "prenatal benign Rathburn disease" EXACT [] xref: ICD10CM:E83.3 {source="MONDO:relatedTo", source="Orphanet:247638", source="Orphanet:247638/attributed", source="Orphanet:247638/ntbt"} xref: Orphanet:247638 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -379754,7 +379828,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:247685"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HPPO" EXACT ABBREVIATION [OMIM:146300] +synonym: "HPPO" EXACT ABBREVIATION [] xref: GARD:17194 {source="MONDO:GARD"} xref: ICD10CM:E83.3 {source="Orphanet:247685", source="MONDO:relatedTo", source="Orphanet:247685/attributed", source="Orphanet:247685/ntbt"} xref: MEDGEN:326709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -379779,8 +379853,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2477"} subset: orphanet_rare {source="Orphanet:2477"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "macroencephaly" EXACT [Orphanet:2477] -synonym: "megalencephaly" EXACT [MONDO:ambiguous] +synonym: "macroencephaly" EXACT [icd11.foundation:368780653, Orphanet:2477] +synonym: "megalencephaly" EXACT [icd11.foundation:368780653, MONDO:ambiguous, Orphanet:2477] synonym: "megalencephaly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:16601 {source="MONDO:GARD"} xref: HP:0001355 {source="MONDO:otherHierarchy"} @@ -379807,7 +379881,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:247718"} subset: orphanet_rare {source="Orphanet:247718"} subset: rare -synonym: "imam" EXACT [Orphanet:247718] +synonym: "IMAM" EXACT ABBREVIATION [Orphanet:247718] +synonym: "imam" EXACT [] xref: GARD:20663 {source="MONDO:GARD"} xref: ICD10CM:G72.4 {source="Orphanet:247718", source="Orphanet:247718/ntbt"} xref: MEDGEN:1638939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -379870,7 +379945,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebellar ataxia, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "hereditary ataxia, X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "X-linked hereditary ataxia" EXACT [MONDO:patterns/x_linked] +synonym: "X-linked hereditary ataxia" EXACT [DOID:0050953, MONDO:patterns/x_linked] xref: DOID:0050953 {source="MONDO:equivalentTo"} xref: DOID:0111828 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:20665 {source="MONDO:GARD"} @@ -379890,7 +379965,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:247806"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "APC-related AFAP" EXACT [Orphanet:247806] -synonym: "APC-related attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [] +synonym: "APC-related attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [Orphanet:247806] synonym: "APC-related attenuated familial polyposis coli" EXACT [Orphanet:247806] synonym: "APC-related attenuated FAP" EXACT [Orphanet:247806] xref: GARD:17197 {source="MONDO:GARD"} @@ -379911,7 +379986,7 @@ subset: ordo_disorder {source="Orphanet:247815"} subset: orphanet_rare {source="Orphanet:247815"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mild peroxismal disorder due to PEX10 deficiency" EXACT [Orphanet:247815] +synonym: "mild peroxismal disorder due to PEX10 deficiency" EXACT [] xref: GARD:20666 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:247815", source="Orphanet:247815/attributed", source="Orphanet:247815/ntbt"} xref: MEDGEN:1843173 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -379926,8 +380001,8 @@ name: oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies subset: gard_rare {source="MONDO:GARD"} subset: ordo_etiological_subtype {source="Orphanet:247839"} subset: rare -synonym: "oligoarticular JIA with anti-nuclear antibodies" EXACT [Orphanet:247839] -synonym: "pauciarticular chronic arthritis with anti-nuclear antibodies" EXACT [Orphanet:247839] +synonym: "oligoarticular JIA with anti-nuclear antibodies" EXACT [] +synonym: "pauciarticular chronic arthritis with anti-nuclear antibodies" EXACT [] xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="Orphanet:247839", source="Orphanet:247839/ntbt"} xref: Orphanet:247839 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019433 {source="Orphanet:247839"} ! oligoarticular juvenile idiopathic arthritis @@ -379938,8 +380013,8 @@ name: oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodi subset: gard_rare {source="MONDO:GARD"} subset: ordo_etiological_subtype {source="Orphanet:247846"} subset: rare -synonym: "oligoarticular JIA without anti-nuclear antibodies" EXACT [Orphanet:247846] -synonym: "pauciarticular chronic arthritis without anti-nuclear antibodies" EXACT [Orphanet:247846] +synonym: "oligoarticular JIA without anti-nuclear antibodies" EXACT [] +synonym: "pauciarticular chronic arthritis without anti-nuclear antibodies" EXACT [] xref: ICD10CM:M08.4 {source="MONDO:relatedTo", source="Orphanet:247846", source="Orphanet:247846/ntbt"} xref: Orphanet:247846 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019433 {source="Orphanet:247846"} ! oligoarticular juvenile idiopathic arthritis @@ -379950,9 +380025,9 @@ name: rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear subset: gard_rare {source="MONDO:GARD"} subset: ordo_etiological_subtype {source="Orphanet:247854"} subset: rare -synonym: "juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies" EXACT [Orphanet:247854] -synonym: "polyarthritis without rheumatoid factor with anti-nuclear antibodies" EXACT [Orphanet:247854] -synonym: "rheumatoid factor-negative JIA with anti-nuclear antibodies" EXACT [Orphanet:247854] +synonym: "juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies" EXACT [] +synonym: "polyarthritis without rheumatoid factor with anti-nuclear antibodies" EXACT [] +synonym: "rheumatoid factor-negative JIA with anti-nuclear antibodies" EXACT [] xref: ICD10CM:M08.3 {source="Orphanet:247854/ntbt", source="Orphanet:247854"} xref: Orphanet:247854 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019432 {source="Orphanet:247854"} ! rheumatoid factor-negative juvenile idiopathic arthritis @@ -379964,9 +380039,9 @@ name: rheumatoid factor-negative juvenile idiopathic arthritis without anti-nucl subset: gard_rare {source="MONDO:GARD"} subset: ordo_etiological_subtype {source="Orphanet:247861"} subset: rare -synonym: "juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies" EXACT [Orphanet:247861] -synonym: "polyarthritis without rheumatoid factor without anti-nuclear antibodies" EXACT [Orphanet:247861] -synonym: "rheumatoid factor-negative JIA without anti-nuclear antibodies" EXACT [Orphanet:247861] +synonym: "juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies" EXACT [] +synonym: "polyarthritis without rheumatoid factor without anti-nuclear antibodies" EXACT [] +synonym: "rheumatoid factor-negative JIA without anti-nuclear antibodies" EXACT [] xref: ICD10CM:M08.3 {source="Orphanet:247861", source="Orphanet:247861/ntbt"} xref: Orphanet:247861 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019432 {source="Orphanet:247861"} ! rheumatoid factor-negative juvenile idiopathic arthritis @@ -379982,7 +380057,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:248"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anhidrotic ectodermal dysplasia, autosomal recessive" RELATED [GARD:0002057] -synonym: "AR-HED" EXACT [Orphanet:248] +synonym: "AR-HED" EXACT ABBREVIATION [Orphanet:248] synonym: "autosomal recessive anhidrotic ectodermal dysplasia" EXACT [Orphanet:248] synonym: "hypohidrotic ectodermal dysplasia autosomal recessive" RELATED [GARD:0002057] synonym: "hypohidrotic ectodermal dysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] @@ -380014,17 +380089,17 @@ subset: orphanet_rare {source="Orphanet:2796"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hypertrophic osteoarthropathy, primary" EXACT [MONDO:0000183] -synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:259100] -synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:259100] +synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" RELATED [MONDO:Lexical] +synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, type 1" EXACT [MONDORULE:1] synonym: "hypertropic osteoarthropathy, primary" EXACT [OMIMPS:259100] synonym: "idiopathic hypertrophic osteoarthropathy" EXACT [Orphanet:248095] -synonym: "pachydermoperiostosis" EXACT [MONDO:0009799] +synonym: "pachydermoperiostosis" EXACT [MONDO:0009799, Orphanet:2796] synonym: "pachydermoperiostosis of nail" EXACT [DOID:14283] -synonym: "pachydermoperiostosis of nail [ambiguous]" EXACT [DOID:14283] +synonym: "pachydermoperiostosis of nail [ambiguous]" EXACT [] synonym: "pachydermoperiostosis syndrome" EXACT [DOID:14283] synonym: "PDP" EXACT ABBREVIATION [Orphanet:2796] synonym: "PHO" EXACT ABBREVIATION [Orphanet:248095] -synonym: "PHOAR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:259100] +synonym: "PHOAR1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "Touraine Solente Gole syndrome" EXACT [GARD:0007299] synonym: "Touraine-Solente-Gole syndrome" EXACT [Orphanet:2796] xref: DOID:14283 {source="MONDO:equivalentTo"} @@ -380125,7 +380200,7 @@ subset: gard_rare {source="GARD:20669", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:248296"} subset: rare synonym: "constitutional rare deficiency anaemia" EXACT OMO:0003005 [] -synonym: "constitutional rare deficiency anemia" EXACT [Orphanet:248296] +synonym: "constitutional rare deficiency anemia" EXACT [] xref: GARD:20669 {source="MONDO:GARD"} xref: MEDGEN:1842172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:248296 {source="MONDO:equivalentTo"} @@ -380167,8 +380242,8 @@ id: MONDO:0016627 name: obsolete rare hemorrhagic disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248308"} -synonym: "rare bleeding disorder" EXACT [Orphanet:248308] -synonym: "rare coagulopathy" EXACT [Orphanet:248308] +synonym: "rare bleeding disorder" EXACT [] +synonym: "rare coagulopathy" EXACT [] xref: Orphanet:248308 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -380179,8 +380254,8 @@ id: MONDO:0016628 name: obsolete hemorrhagic disorder due to a coagulation factors defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemorrhagic disease' subset: ordo_group_of_disorders {source="Orphanet:248315"} -synonym: "rare bleeding disorder due to a coagulation factors defect" NARROW [Orphanet:248315] -synonym: "rare coagulopathy due to a coagulation factor defect" NARROW [Orphanet:248315] +synonym: "rare bleeding disorder due to a coagulation factors defect" NARROW [] +synonym: "rare coagulopathy due to a coagulation factor defect" NARROW [] xref: Orphanet:248315 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380193,11 +380268,11 @@ id: MONDO:0016629 name: obsolete hemorrhagic disorder due to a platelet anomaly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248326"} -synonym: "rare bleeding disorder due to a platelet anomaly" EXACT [Orphanet:248326] -synonym: "rare bleeding disorder due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326] -synonym: "rare coagulopathy due to a platelet anomaly" EXACT [Orphanet:248326] -synonym: "rare coagulopathy due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326] -synonym: "rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248326] +synonym: "rare bleeding disorder due to a platelet anomaly" EXACT [] +synonym: "rare bleeding disorder due to a thrombopathy and/or thrombocytopenia" EXACT [] +synonym: "rare coagulopathy due to a platelet anomaly" EXACT [] +synonym: "rare coagulopathy due to a thrombopathy and/or thrombocytopenia" EXACT [] +synonym: "rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia" EXACT [] xref: Orphanet:248326 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380232,11 +380307,11 @@ name: obsolete hemorrhagic disorder due to an acquired platelet anomaly def: "OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which develops after birth." [https://orcid.org/0000-0001-5208-3432] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:248347"} -synonym: "rare bleeding disorder due to an acquired platelet anomaly" EXACT [Orphanet:248347] -synonym: "rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347] -synonym: "rare coagulopathy due to an acquired platelet anomaly" EXACT [Orphanet:248347] -synonym: "rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347] -synonym: "rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia" EXACT [Orphanet:248347] +synonym: "rare bleeding disorder due to an acquired platelet anomaly" EXACT [] +synonym: "rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia" EXACT [] +synonym: "rare coagulopathy due to an acquired platelet anomaly" EXACT [] +synonym: "rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia" EXACT [] +synonym: "rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia" EXACT [] xref: Orphanet:248347 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -380338,7 +380413,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2487"} subset: orphanet_rare {source="Orphanet:2487"} subset: rare synonym: "Fried-Goldberg-Mundel syndrome" EXACT [Orphanet:2487] -synonym: "lower limb malformation-hypospadias syndrome" RELATED [Orphanet:2487] +synonym: "lower limb malformation-hypospadias syndrome" RELATED [] xref: GARD:18773 {source="MONDO:GARD"} xref: MEDGEN:418952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C535640 {source="MONDO:equivalentTo"} @@ -380387,17 +380462,17 @@ subset: ordo_disorder {source="Orphanet:2495"} subset: orphanet_rare {source="Orphanet:2495"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intracranial meningioma" RELATED [DOID:3565] -synonym: "meningeal neoplasm" RELATED [DOID:3565] -synonym: "meningioma" EXACT [MONDO:ambiguous, NCIT:C3230] +synonym: "intracranial meningioma" RELATED [] +synonym: "meningeal neoplasm" RELATED [] +synonym: "meningioma" EXACT [DOID:3565, MONDO:ambiguous, NCIT:C3230, Orphanet:2495] synonym: "meningioma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "meningioma, NOS" RELATED EXCLUDE [NCIT:C3230] -synonym: "meningothelial cell tumor" RELATED [DOID:3565] +synonym: "meningioma, NOS" RELATED EXCLUDE [] +synonym: "meningothelial cell tumor" RELATED [] synonym: "meningothelial cell tumour" RELATED OMO:0003005 [] -synonym: "neoplasm of the meninges" RELATED EXCLUDE [DOID:3565] -synonym: "primary meningeal tumor" RELATED [DOID:3565] +synonym: "neoplasm of the meninges" RELATED EXCLUDE [] +synonym: "primary meningeal tumor" RELATED [] synonym: "primary meningeal tumour" RELATED OMO:0003005 [] -synonym: "supratentorial meningioma" RELATED [DOID:3565] +synonym: "supratentorial meningioma" RELATED [] xref: DOID:3565 {source="MONDO:equivalentTo"} xref: GARD:7015 {source="MONDO:GARD"} xref: HP:0002858 {source="MONDO:otherHierarchy"} @@ -380441,8 +380516,8 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1165"} subset: ordo_group_of_disorders {source="Orphanet:250"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FND1" NARROW ABBREVIATION [NCIT:C129028] -synonym: "frontonasal dysplasia 1" NARROW [NCIT:C129028] +synonym: "FND1" NARROW ABBREVIATION [] +synonym: "frontonasal dysplasia 1" NARROW [] synonym: "median cleft face syndrome" EXACT [Orphanet:250] synonym: "median cleft syndrome" RELATED [GARD:0002392] xref: DOID:0081044 {source="MONDO:equivalentTo"} @@ -380471,8 +380546,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:250831"} subset: orphanet_rare {source="Orphanet:250831"} subset: rare -synonym: "Logopenic primary progressive aphasia" EXACT [Orphanet:250831] -synonym: "Logopenic variant PPA" EXACT [Orphanet:250831] +synonym: "Logopenic primary progressive aphasia" EXACT [DOID:0081389, Orphanet:250831] +synonym: "Logopenic variant PPA" EXACT [DOID:0081389, Orphanet:250831] synonym: "LPA" EXACT ABBREVIATION [Orphanet:250831] xref: DOID:0081389 {source="MONDO:equivalentTo"} xref: GARD:10791 {source="MONDO:GARD"} @@ -380545,12 +380620,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Dominant Multiple Epiphyseal Dysplasia" EXACT [NORD:1468] synonym: "EDM" EXACT ABBREVIATION [Orphanet:251] -synonym: "epiphyseal dysplasia, multiple" RELATED [GARD:0010756, OMIMPS:132400] +synonym: "epiphyseal dysplasia, multiple" RELATED [GARD:0010756] synonym: "MED" EXACT ABBREVIATION [Orphanet:251] -synonym: "multiple epiphyseal dysplasia" EXACT CLINGEN_LABEL [MONDO:ambiguous] +synonym: "multiple epiphyseal dysplasia" EXACT CLINGEN_LABEL [DOID:12721, MONDO:ambiguous, Orphanet:251] synonym: "multiple epiphyseal dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "Polyepiphyseal dysplasia" EXACT [Orphanet:251] -synonym: "polyepiphyseal dysplasia" EXACT [DOID:12721] +synonym: "Polyepiphyseal dysplasia" EXACT [DOID:12721, Orphanet:251] +synonym: "polyepiphyseal dysplasia" EXACT [DOID:12721, Orphanet:251] xref: DOID:12721 {source="MONDO:equivalentTo"} xref: GARD:10756 {source="MONDO:GARD"} xref: HP:0002654 {source="MONDO:otherHierarchy"} @@ -380586,11 +380661,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:2510"} subset: orphanet_rare {source="Orphanet:2510"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "micro syndrome" EXACT [DOID:0060237] +synonym: "micro syndrome" EXACT [DOID:0060237, Orphanet:2510] synonym: "microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism" RELATED [GARD:0005534] synonym: "microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism" RELATED DEPRECATED [GARD:0005534] synonym: "WARBM" EXACT ABBREVIATION [DOID:0060237, Orphanet:2510] -synonym: "Warburg micro syndrome" EXACT [Orphanet:2510] +synonym: "Warburg micro syndrome" EXACT [DOID:0060237, OMIMPS:600118, Orphanet:2510] synonym: "Warburg-Sjo-Fledelius syndrome" EXACT [DOID:0060237] xref: DOID:0060237 {source="MONDO:equivalentTo"} xref: GARD:5534 {source="MONDO:GARD"} @@ -380624,7 +380699,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:251004"} subset: orphanet_rare {source="Orphanet:251004"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "paternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, Orphanet:251004] +synonym: "paternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1] synonym: "UPD(1)pat" EXACT [Orphanet:251004] xref: GARD:20688 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:251004", source="Orphanet:251004/attributed", source="Orphanet:251004/ntbt"} @@ -380647,7 +380722,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:251009"} subset: orphanet_rare {source="Orphanet:251009"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "maternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1, Orphanet:251009] +synonym: "maternal uniparental disomy of chromosome type 1" EXACT [MONDORULE:1] synonym: "UPD(1)mat" EXACT [Orphanet:251009] xref: GARD:20689 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:251009/attributed", source="Orphanet:251009/ntbt", source="Orphanet:251009"} @@ -380720,8 +380795,8 @@ subset: rare synonym: "chromosome 5 ring" RELATED [GARD:0010841] synonym: "R5" RELATED ABBREVIATION [GARD:0010841] synonym: "Ring 5" RELATED [GARD:0010841] -synonym: "Ring chromosome 5 syndrome" RELATED [Orphanet:251043] -synonym: "Ring chromosome type 5" EXACT [MONDORULE:1, Orphanet:251043] +synonym: "Ring chromosome 5 syndrome" RELATED [] +synonym: "Ring chromosome type 5" EXACT [MONDORULE:1] synonym: "rose cluster 5" EXACT [NCIT:C121984] xref: GARD:10841 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:251043", source="Orphanet:251043/attributed", source="Orphanet:251043/ntbt"} @@ -380870,12 +380945,12 @@ subset: ordo_etiological_subtype {source="Orphanet:2512"} subset: ordo_subtype_of_a_disorder {source="Orphanet:2512"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MCPH" EXACT ABBREVIATION [Orphanet:2512] +synonym: "MCPH" EXACT ABBREVIATION [DOID:0070296, Orphanet:2512] synonym: "microcephalia vera" EXACT [Orphanet:2512] synonym: "microcephaly vera" EXACT [Orphanet:2512] -synonym: "microcephaly, primary autosomal recessive" EXACT [OMIMPS:251200] +synonym: "microcephaly, primary autosomal recessive" EXACT [] synonym: "microcephaly, primary, autosomal recessive" EXACT [MONDO:0000061] -synonym: "true microcephaly" BROAD [Orphanet:2512] +synonym: "true microcephaly" BROAD [] xref: DOID:0070296 {source="MONDO:equivalentTo"} xref: GARD:12117 {source="MONDO:GARD"} xref: ICD10CM:Q02 {source="Orphanet:2512", source="Orphanet:2512/attributed", source="Orphanet:2512/ntbt"} @@ -381000,7 +381075,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0016667 name: obsolete sickle cell disease associated with an other hemoglobin anomaly subset: ordo_group_of_disorders {source="Orphanet:251355"} -synonym: "Double heterozygotes sickling disorder" EXACT [Orphanet:251355] +synonym: "Double heterozygotes sickling disorder" EXACT [] xref: ICD10CM:D57.2 {source="Orphanet:251355", source="Orphanet:251355/specific", source="Orphanet:251355/e"} xref: Orphanet:251355 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -381031,7 +381106,7 @@ synonym: "sickle beta thalassemia" RELATED [GARD:0010333] synonym: "sickle cell - beta-thalassemia disease" RELATED [GARD:0010333] synonym: "sickle cell-Beta thalassemia" EXACT [NCIT:C95539] synonym: "sickle cell-Beta-thalassemia" EXACT [NCIT:C95539] -synonym: "sickle cell-beta-thalassemia disease syndrome" EXACT [GARD:0010333] +synonym: "sickle cell-beta-thalassemia disease syndrome" EXACT [GARD:0010333, Orphanet:251359] xref: GARD:10333 {source="MONDO:GARD"} xref: ICD10CM:D57.2 {source="Orphanet:251359/inclusion", source="Orphanet:251359", source="Orphanet:251359/ntbt"} xref: MedDRA:10040655 {source="Orphanet:251359/e", source="Orphanet:251359"} @@ -381204,14 +381279,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:251515"} subset: orphanet_rare {source="Orphanet:251515"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis, distal, type 10" RELATED [MONDO:Lexical, OMIM:187370] -synonym: "congenital plantar contractures" RELATED [OMIM:187370] -synonym: "DA10" EXACT ABBREVIATION [MONDO:Lexical, OMIM:187370, Orphanet:251515] -synonym: "distal arthrogryposis type 10" EXACT [MONDO:0008539] -synonym: "plantar flexion contracture" EXACT [Orphanet:251515] -synonym: "short Achilles tendon" EXACT [Orphanet:251515] -synonym: "short tendo calcaneus" EXACT [Orphanet:251515] -synonym: "tendo calcaneus, short" RELATED [OMIM:187370] +synonym: "arthrogryposis, distal, type 10" RELATED [MONDO:Lexical] +synonym: "congenital plantar contractures" RELATED [] +synonym: "DA10" EXACT ABBREVIATION [DOID:0111593, MONDO:Lexical, OMIM:187370, Orphanet:251515] +synonym: "distal arthrogryposis type 10" EXACT [DOID:0111593, MONDO:0008539, Orphanet:251515] +synonym: "plantar flexion contracture" EXACT [DOID:0111593, Orphanet:251515] +synonym: "short Achilles tendon" EXACT [DOID:0111593, Orphanet:251515] +synonym: "short tendo calcaneus" EXACT [DOID:0111593, Orphanet:251515] +synonym: "tendo calcaneus, short" RELATED [] xref: DOID:0111593 {source="MONDO:equivalentTo"} xref: GARD:17212 {source="MONDO:GARD"} xref: ICD10CM:Q68.8 {source="Orphanet:251515/attributed", source="Orphanet:251515/ntbt", source="Orphanet:251515"} @@ -381292,7 +381367,7 @@ synonym: "high grade astrocytic tumor" EXACT [NCIT:C102897] synonym: "high-grade astrocytic neoplasm" EXACT [NCIT:C102897] synonym: "high-grade astrocytic tumor" EXACT [NCIT:C102897] synonym: "high-grade astrocytic tumour" EXACT OMO:0003005 [] -synonym: "high-grade astrocytoma" RELATED [Orphanet:251561] +synonym: "high-grade astrocytoma" RELATED [] xref: GARD:20704 {source="MONDO:GARD"} xref: MEDGEN:769639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C102897 {source="MONDO:equivalentTo"} @@ -381313,7 +381388,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glioblastoma with a sarcomatous component" EXACT [NCIT:C3796] synonym: "glioblastoma with sarcomatous component" EXACT [DOID:3071] -synonym: "gliosarcoma" EXACT [NCIT:C3796] +synonym: "gliosarcoma" EXACT [DOID:3071, NCIT:C3796, Orphanet:251576] synonym: "sarcomatous glioblastoma" RELATED [GARD:0005653] xref: DOID:3071 {source="MONDO:equivalentTo"} xref: EFO:1001465 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -381344,7 +381419,7 @@ subset: ordo_histopathological_subtype {source="Orphanet:251579"} subset: ordo_subtype_of_a_disorder {source="Orphanet:251579"} subset: rare synonym: "Monstrocellular sarcoma" EXACT [DOID:3074] -synonym: "Monstrocellular sarcoma [obs]" EXACT [DOID:3074] +synonym: "Monstrocellular sarcoma [obs]" EXACT [] xref: DOID:3074 {source="MONDO:equivalentTo"} xref: GARD:20705 {source="MONDO:GARD"} xref: ICD10CM:C71.9 {source="Orphanet:251579", source="Orphanet:251579/ntbt"} @@ -381371,8 +381446,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "astrocytosis cerebri" EXACT [DOID:6128, NCIT:C4318] synonym: "gliomatosis" EXACT [NCIT:C4318] -synonym: "gliomatosis cerebri" EXACT [NCIT:C4318] -synonym: "gliomatosis cerebri (morphologic abnormality)" EXACT [DOID:6128] +synonym: "gliomatosis cerebri" EXACT [DOID:6128, icd11.foundation:373131154, NCIT:C4318, Orphanet:251582] +synonym: "gliomatosis cerebri (morphologic abnormality)" EXACT [] xref: DOID:6128 {source="MONDO:equivalentTo"} xref: GARD:6514 {source="MONDO:GARD"} xref: ICD10CM:C71.0 {source="Orphanet:251582", source="Orphanet:251582/ntbt"} @@ -381399,13 +381474,13 @@ subset: ordo_disorder {source="Orphanet:251589"} subset: orphanet_rare {source="Orphanet:251589"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anaplastic astrocytoma" EXACT [DOID:3078, NCIT:C9477] -synonym: "astrocytoma, anaplastic, malignant" EXACT [NCIT:C9477] +synonym: "anaplastic astrocytoma" EXACT [DOID:3078, NCIT:C9477, Orphanet:251589] +synonym: "astrocytoma, anaplastic, malignant" EXACT [] synonym: "grade III astrocytic neoplasm" EXACT [NCIT:C9477] synonym: "grade III astrocytic tumor" EXACT [DOID:3078, NCIT:C9477] synonym: "grade III astrocytic tumour" EXACT OMO:0003005 [] -synonym: "grade III astrocytoma" EXACT [MONDO:0002504, NCIT:C9477] -synonym: "high-grade astrocytoma, NOS" RELATED EXCLUDE [NCIT:C9477] +synonym: "grade III astrocytoma" EXACT [DOID:3078, MONDO:0002504, NCIT:C9477] +synonym: "high-grade astrocytoma, NOS" RELATED EXCLUDE [] synonym: "malignant astrocytoma" EXACT [NCIT:C9477] xref: DOID:3078 {source="MONDO:equivalentTo"} xref: EFO:0002499 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -381457,17 +381532,17 @@ subset: orphanet_rare {source="Orphanet:251595"} subset: rare synonym: "astrocytoma, diffuse" EXACT [NCIT:C7173] synonym: "astrocytoma, diffuse, malignant" EXACT [NCIT:C7173] -synonym: "diffuse astrocytoma" EXACT [NCIT:C7173] +synonym: "diffuse astrocytoma" EXACT [DOID:4857, NCIT:C7173, Orphanet:251595] synonym: "fibrillary astrocytoma (histologic variant)" RELATED [GARD:0005907] synonym: "gemistocytic astrocytoma (histologic variant)" RELATED [GARD:0005907] synonym: "grade II astrocytic neoplasm" EXACT [NCIT:C7173] synonym: "grade II astrocytic tumor" EXACT [NCIT:C7173] synonym: "grade II astrocytic tumour" EXACT OMO:0003005 [] synonym: "grade II astrocytoma" EXACT [NCIT:C7173] -synonym: "low-grade astrocytoma, NOS" RELATED EXCLUDE [NCIT:C7173] +synonym: "low-grade astrocytoma, NOS" RELATED EXCLUDE [] synonym: "low-grade diffuse astrocytoma" RELATED [GARD:0005907] synonym: "protoplasmic astrocytoma (histologic variant)" RELATED [GARD:0005907] -synonym: "WHO grade II astrocytoma" EXACT [NCIT:C7173] +synonym: "WHO grade II astrocytoma" EXACT [DOID:4857, NCIT:C7173] xref: DOID:4857 {source="MONDO:equivalentTo"} xref: GARD:5907 {source="MONDO:GARD"} xref: ICD10CM:C71.9 {source="Orphanet:251595/ntbt", source="Orphanet:251595"} @@ -381491,10 +381566,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_histopathological_subtype {source="Orphanet:251598"} subset: ordo_subtype_of_a_disorder {source="Orphanet:251598"} subset: rare -synonym: "protoplasmic astrocytic tumor" EXACT [DOID:7008, NCIT:C4320] +synonym: "protoplasmic astrocytic tumor" EXACT [DOID:7008] synonym: "protoplasmic astrocytic tumour" EXACT OMO:0003005 [] -synonym: "protoplasmic astrocytoma" EXACT [NCIT:C4320] -synonym: "protoplasmic astrocytoma (morphologic abnormality)" EXACT [DOID:7008] +synonym: "protoplasmic astrocytoma" EXACT [DOID:7008, NCIT:C4320, Orphanet:251598] +synonym: "protoplasmic astrocytoma (morphologic abnormality)" EXACT [] xref: DOID:7008 {source="MONDO:equivalentTo"} xref: GARD:20707 {source="MONDO:GARD"} xref: ICD10CM:C71.9 {source="Orphanet:251598", source="Orphanet:251598/ntbt"} @@ -381516,10 +381591,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_histopathological_subtype {source="Orphanet:251601"} subset: ordo_subtype_of_a_disorder {source="Orphanet:251601"} subset: rare -synonym: "diffuse astrocytoma" RELATED EXCLUDE [DOID:6726] -synonym: "fibrillary astrocytic tumors" EXACT [DOID:6726, NCIT:C4322] +synonym: "diffuse astrocytoma" RELATED EXCLUDE [] +synonym: "fibrillary astrocytic tumors" EXACT [DOID:6726] synonym: "fibrillary astrocytic tumours" EXACT OMO:0003005 [] -synonym: "fibrillary astrocytoma" EXACT [NCIT:C4322] +synonym: "fibrillary astrocytoma" EXACT [DOID:6726, NCIT:C4322, Orphanet:251601] xref: DOID:6726 {source="MONDO:equivalentTo"} xref: GARD:20708 {source="MONDO:GARD"} xref: ICD10CM:C71.9 {source="Orphanet:251601", source="Orphanet:251601/ntbt"} @@ -381543,10 +381618,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_histopathological_subtype {source="Orphanet:251604"} subset: ordo_subtype_of_a_disorder {source="Orphanet:251604"} subset: rare -synonym: "gemistocytic astrocytic tumor" EXACT [DOID:7005, NCIT:C4321] +synonym: "gemistocytic astrocytic tumor" EXACT [DOID:7005] synonym: "gemistocytic astrocytic tumour" EXACT OMO:0003005 [] -synonym: "gemistocytic astrocytoma" EXACT [NCIT:C4321] -synonym: "gemistocytic astrocytoma (morphologic abnormality)" EXACT [DOID:7005] +synonym: "gemistocytic astrocytoma" EXACT [DOID:7005, NCIT:C4321, Orphanet:251604] +synonym: "gemistocytic astrocytoma (morphologic abnormality)" EXACT [] synonym: "Gemistocytoma" EXACT [NCIT:C4321] xref: DOID:7005 {source="MONDO:equivalentTo"} xref: GARD:20709 {source="MONDO:GARD"} @@ -381571,7 +381646,7 @@ subset: orphanet_rare {source="Orphanet:251607"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "pleomorphic Xantho-astrocytoma" EXACT [DOID:4852, NCIT:C4323] -synonym: "PXA" EXACT ABBREVIATION [ONCOTREE:PXA, Orphanet:251607] +synonym: "PXA" EXACT ABBREVIATION [NCIT:C4323, ONCOTREE:PXA, Orphanet:251607] xref: DOID:4852 {source="MONDO:equivalentTo"} xref: GARD:10631 {source="MONDO:GARD"} xref: ICD10CM:C71.9 {source="Orphanet:251607"} @@ -381598,13 +381673,13 @@ subset: ordo_disorder {source="Orphanet:251612"} subset: orphanet_rare {source="Orphanet:251612"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "astrocytoma, benign" EXACT [NCIT:C4047] -synonym: "astrocytoma, pilocytic, benign" EXACT [NCIT:C4047] +synonym: "astrocytoma, benign" EXACT [] +synonym: "astrocytoma, pilocytic, benign" EXACT [] synonym: "grade I astrocytic neoplasm" EXACT [NCIT:C4047] synonym: "grade I astrocytic tumor" EXACT [DOID:4851, NCIT:C4047] synonym: "grade I astrocytic tumour" EXACT OMO:0003005 [] synonym: "grade I astrocytoma" EXACT [NCIT:C4047] -synonym: "pilocytic astrocytoma" EXACT [NCIT:C4047] +synonym: "pilocytic astrocytoma" EXACT [DOID:4851, NCIT:C4047, Orphanet:251612] synonym: "Piloid astrocytoma" EXACT [DOID:4851] xref: DOID:4851 {source="MONDO:equivalentTo"} xref: GARD:9808 {source="MONDO:GARD"} @@ -381665,7 +381740,7 @@ synonym: "SEGA" EXACT ABBREVIATION [DOID:5077, NCIT:C3696, Orphanet:251618] synonym: "subependymal giant cell astrocytic neoplasm" EXACT [NCIT:C3696] synonym: "subependymal giant cell astrocytic tumor" EXACT [NCIT:C3696] synonym: "subependymal giant cell astrocytic tumour" EXACT OMO:0003005 [] -synonym: "subependymal giant cell astrocytoma (morphologic abnormality)" EXACT [DOID:5077] +synonym: "subependymal giant cell astrocytoma (morphologic abnormality)" EXACT [] xref: DOID:5077 {source="MONDO:equivalentTo"} xref: GARD:10632 {source="MONDO:GARD"} xref: ICD10CM:D43.2 {source="Orphanet:251618", source="Orphanet:251618/ntbt"} @@ -381697,11 +381772,11 @@ subset: ordo_disorder {source="Orphanet:251627"} subset: orphanet_rare {source="Orphanet:251627"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "oligodendroglial neoplasm" BROAD [DOID:3181] -synonym: "oligodendroglial tumor" BROAD [DOID:3181, NCIT:C6960] +synonym: "oligodendroglial neoplasm" BROAD [] +synonym: "oligodendroglial tumor" BROAD [] synonym: "oligodendroglial tumour" BROAD OMO:0003005 [] -synonym: "oligodendroglioma" EXACT [NCIT:C3288] -synonym: "oligodendroglioma, NOS" RELATED EXCLUDE [NCIT:C3288] +synonym: "oligodendroglioma" EXACT [DOID:3181, NCIT:C3288, Orphanet:251627] +synonym: "oligodendroglioma, NOS" RELATED EXCLUDE [] synonym: "well differentiated oligodendroglial tumor" EXACT [NCIT:C3288] synonym: "well differentiated oligodendroglial tumour" EXACT OMO:0003005 [] synonym: "well differentiated oligodendroglioma" EXACT [NCIT:C3288] @@ -381738,9 +381813,9 @@ subset: ordo_disorder {source="Orphanet:251630"} subset: orphanet_rare {source="Orphanet:251630"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anaplastic oligodendroglioma" EXACT [NCIT:C4326] +synonym: "anaplastic oligodendroglioma" EXACT [DOID:7154, NCIT:C4326, Orphanet:251630] synonym: "malignant oligodendroglioma" EXACT [NCIT:C4326] -synonym: "oligodendroglioma, anaplastic, malignant" EXACT [NCIT:C4326] +synonym: "oligodendroglioma, anaplastic, malignant" EXACT [] synonym: "oligodendroglioma, malignant" EXACT [NCIT:C4326] synonym: "undifferentiated oligodendroglioma" EXACT [NCIT:C4326] synonym: "WHO grade III oligodendroglial neoplasm" EXACT [NCIT:C4326] @@ -381796,15 +381871,15 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign ependymoma" EXACT [DOID:4844, MONDO:0003161] synonym: "clear cell ependymoma (histologic variant)" RELATED [GARD:0006353] -synonym: "ependymoma" EXACT [NCIT:C3017] +synonym: "ependymoma" EXACT [NCIT:C3017, Orphanet:251636] synonym: "ependymoma, benign" NARROW [MONDO:patterns/benign] synonym: "ependymoma, familial" RELATED [GARD:0006353] -synonym: "ependymoma, NOS" RELATED EXCLUDE [NCIT:C3017] +synonym: "ependymoma, NOS" RELATED EXCLUDE [] synonym: "epithelial ependymoma" EXACT [DOID:4844] synonym: "papillary ependymoma (histologic variant)" RELATED [GARD:0006353] synonym: "tanycytic ependymoma (histologic variant)" RELATED [GARD:0006353] -synonym: "WHO grade II ependymal neoplasm" NARROW [NCIT:C3017] -synonym: "WHO grade II ependymal tumor" NARROW [DOID:4844, NCIT:C3017] +synonym: "WHO grade II ependymal neoplasm" NARROW [] +synonym: "WHO grade II ependymal tumor" NARROW [] synonym: "WHO grade II ependymal tumour" NARROW OMO:0003005 [] xref: DOID:4844 {source="MONDO:equivalentTo"} xref: EFO:1000028 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -381840,8 +381915,8 @@ subset: ordo_histopathological_subtype {source="Orphanet:251643"} subset: orphanet_rare {source="Orphanet:251643"} subset: rare synonym: "ependymoma, benign" EXACT [NCIT:C3697] -synonym: "myxopapillary ependymoma" EXACT [DOID:5075, NCIT:C3697] -synonym: "myxopapillary ependymoma (morphologic abnormality)" EXACT [DOID:5075] +synonym: "myxopapillary ependymoma" EXACT [DOID:5075, NCIT:C3697, Orphanet:251643] +synonym: "myxopapillary ependymoma (morphologic abnormality)" EXACT [] xref: DOID:5075 {source="MONDO:equivalentTo"} xref: GARD:10633 {source="MONDO:GARD"} xref: ICD10CM:D43.2 {source="Orphanet:251643", source="Orphanet:251643/ntbt"} @@ -381869,18 +381944,18 @@ subset: rare synonym: "anaplastic ependymal neoplasm" EXACT [NCIT:C4049] synonym: "anaplastic ependymal tumor" EXACT [NCIT:C4049] synonym: "anaplastic ependymal tumour" EXACT OMO:0003005 [] -synonym: "anaplastic ependymoma" EXACT [NCIT:C4049] -synonym: "ependymal neoplasm" RELATED EXCLUDE [DOID:5074] -synonym: "ependymal tumors" BROAD [DOID:5074] +synonym: "anaplastic ependymoma" EXACT [DOID:5889, NCIT:C4049, Orphanet:251646] +synonym: "ependymal neoplasm" RELATED EXCLUDE [] +synonym: "ependymal tumors" BROAD [] synonym: "ependymal tumours" BROAD OMO:0003005 [] -synonym: "ependymoma, anaplastic, malignant" EXACT [NCIT:C4049] +synonym: "ependymoma, anaplastic, malignant" EXACT [] synonym: "ependymoma, malignant" EXACT [MONDO:patterns/malignant] -synonym: "high-grade ependymoma" EXACT [Orphanet:251646] -synonym: "malignant ependymoma" EXACT [NCIT:C4049] +synonym: "high-grade ependymoma" EXACT [] +synonym: "malignant ependymoma" EXACT [DOID:5074, NCIT:C4049] synonym: "undifferentiated ependymal neoplasm" EXACT [NCIT:C4049] synonym: "undifferentiated ependymal tumor" EXACT [NCIT:C4049] synonym: "undifferentiated ependymal tumour" EXACT OMO:0003005 [] -synonym: "undifferentiated ependymoma" EXACT [NCIT:C4049] +synonym: "undifferentiated ependymoma" EXACT [DOID:5889, NCIT:C4049] synonym: "WHO grade III ependymal neoplasm" EXACT [NCIT:C4049] synonym: "WHO grade III ependymal tumor" EXACT [NCIT:C4049] synonym: "WHO grade III ependymal tumour" EXACT OMO:0003005 [] @@ -381910,7 +381985,7 @@ id: MONDO:0016701 name: obsolete oligoastrocytic tumor subset: ordo_group_of_disorders {source="Orphanet:251651"} subset: otar {source="MONDO:OTAR"} -synonym: "mixed oligodendroglial and astrocytic tumor" EXACT [Orphanet:251651] +synonym: "mixed oligodendroglial and astrocytic tumor" EXACT [] synonym: "mixed oligodendroglial and astrocytic tumour" EXACT OMO:0003005 [] xref: Orphanet:251651 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -381936,9 +382011,9 @@ synonym: "mixed astrocytic-oligodendroglial tumour" EXACT OMO:0003005 [] synonym: "mixed astrocytoma-oligodendroglioma" EXACT [NCIT:C4050] synonym: "mixed oligo-astrocytoma" EXACT [NCIT:C4050] synonym: "mixed oligoastrocytoma" EXACT [Orphanet:251656] -synonym: "mixed oligodendroglioma-astrocytoma" EXACT [MONDO:0004395] +synonym: "mixed oligodendroglioma-astrocytoma" EXACT [DOID:7912, MONDO:0004395] synonym: "MOA" EXACT ABBREVIATION [Orphanet:251656] -synonym: "oligoastrocytoma" EXACT [NCIT:C4050] +synonym: "oligoastrocytoma" EXACT [NCIT:C4050, Orphanet:251656] synonym: "WHO grade II mixed glioma" EXACT [DOID:7912, NCIT:C4050] xref: DOID:7912 {source="MONDO:equivalentTo"} xref: EFO:0000630 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -381969,7 +382044,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aMOA" EXACT [Orphanet:251663] synonym: "anaplastic mixed glioma" EXACT [NCIT:C6959] -synonym: "anaplastic oligoastrocytoma" EXACT [NCIT:C6959] +synonym: "anaplastic oligoastrocytoma" EXACT [NCIT:C6959, Orphanet:251663] synonym: "AOAST" RELATED ABBREVIATION [ONCOTREE:AOAST] synonym: "WHO grade III mixed glioma" EXACT [NCIT:C6959] xref: EFO:0002500 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -382034,14 +382109,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:251674"} subset: orphanet_rare {source="Orphanet:251674"} subset: rare -synonym: "chordoid glioma" EXACT [DOID:3774, NCIT:C5592] -synonym: "chordoid glioma (morphologic abnormality)" EXACT [DOID:3774] -synonym: "chordoid glioma of 3rd ventricle" EXACT [DOID:3773, NCIT:C6961] +synonym: "chordoid glioma" EXACT [DOID:3774, NCIT:C5592, Orphanet:251674] +synonym: "chordoid glioma (morphologic abnormality)" EXACT [] +synonym: "chordoid glioma of 3rd ventricle" EXACT [DOID:3774, NCIT:C5592] synonym: "chordoid glioma of the 3rd ventricle" EXACT [NCIT:C5592] -synonym: "chordoid glioma of the third ventricle" EXACT [GARD:0010636] +synonym: "chordoid glioma of the third ventricle" EXACT [GARD:0010636, NCIT:C5592] synonym: "chordoid glioma of the third ventricle (WHO grade II)" EXACT [NCIT:C5592] -synonym: "chordoid glioma of third ventricle" EXACT [DOID:3773] -synonym: "third ventricle chordoid glioma" EXACT [MONDO:patterns/location] +synonym: "chordoid glioma of third ventricle" EXACT [DOID:3774, NCIT:C5592] +synonym: "third ventricle chordoid glioma" EXACT [DOID:3774, MONDO:patterns/location, NCIT:C5592] xref: DOID:3773 {source="MONDO:equivalentObsolete"} xref: DOID:3774 {source="MONDO:equivalentTo"} xref: GARD:20715 {source="MONDO:GARD"} @@ -382072,8 +382147,8 @@ subset: orphanet_rare {source="Orphanet:251679"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AstB" RELATED [ONCOTREE:ASTB] -synonym: "astroblastoma" EXACT [NCIT:C4324] -synonym: "astroblastoma (morphologic abnormality)" EXACT [DOID:7305] +synonym: "astroblastoma" EXACT [DOID:7305, NCIT:C4324, Orphanet:251679] +synonym: "astroblastoma (morphologic abnormality)" EXACT [] synonym: "cerebral astroblastoma" RELATED [GARD:0010635] xref: DOID:7305 {source="MONDO:equivalentTo"} xref: GARD:10635 {source="MONDO:GARD"} @@ -382135,9 +382210,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebellar neuroblastoma" EXACT [NCIT:C5407] synonym: "MBEN" EXACT ABBREVIATION [Orphanet:251858] -synonym: "medulloblastoma with extensive nodularity" EXACT [NCIT:C5407] +synonym: "medulloblastoma with extensive nodularity" EXACT [DOID:3873, NCIT:C5407, Orphanet:251858] synonym: "medulloblastoma with extensive nodularity and advanced neuronal differentiation" EXACT [NCIT:C5407] -synonym: "nodular medulloblastoma" EXACT [NCIT:C5407] +synonym: "nodular medulloblastoma" EXACT [DOID:3873, NCIT:C5407] xref: DOID:3873 {source="MONDO:equivalentTo"} xref: GARD:17214 {source="MONDO:GARD"} xref: ICD10CM:C71.6 {source="Orphanet:251858/ntbt", source="Orphanet:251858"} @@ -382160,9 +382235,9 @@ subset: ordo_histopathological_subtype {source="Orphanet:251863"} subset: ordo_subtype_of_a_disorder {source="Orphanet:251863"} subset: rare synonym: "Desmoplastic medulloblastoma" EXACT [NCIT:C4956] -synonym: "desmoplastic medulloblastoma" EXACT [MONDO:0005547] +synonym: "desmoplastic medulloblastoma" EXACT [MONDO:0005547, NCIT:C4956] synonym: "desmoplastic nodular medulloblastoma" EXACT [NCIT:C4956] -synonym: "desmoplastic/nodular medulloblastoma" EXACT [NCIT:C4956] +synonym: "desmoplastic/nodular medulloblastoma" EXACT [NCIT:C4956, Orphanet:251863] xref: GARD:17215 {source="MONDO:GARD"} xref: ICD10CM:C71.6 {source="Orphanet:251863", source="Orphanet:251863/ntbt"} xref: ICDO:9471/3 {source="NCIT:C4956"} @@ -382185,7 +382260,7 @@ subset: ordo_histopathological_subtype {source="Orphanet:251867"} subset: ordo_subtype_of_a_disorder {source="Orphanet:251867"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "classic medulloblastoma" EXACT [NCIT:C54039] +synonym: "classic medulloblastoma" EXACT [icd11.foundation:1548011794, NCIT:C54039, Orphanet:251867] xref: GARD:17216 {source="MONDO:GARD"} xref: ICD10CM:C71.6 {source="Orphanet:251867/ntbt", source="Orphanet:251867"} xref: icd11.foundation:1548011794 {source="MONDO:equivalentTo"} @@ -382207,10 +382282,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:251870"} subset: rare synonym: "central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [MONDO:patterns/location, NCIT:C129537] -synonym: "central nervous system PNET" BROAD [Orphanet:251870] -synonym: "central nervous system primitive neuroectodermal tumor" RELATED [Orphanet:251870] +synonym: "central nervous system PNET" BROAD [] +synonym: "central nervous system primitive neuroectodermal tumor" RELATED [] synonym: "central nervous system primitive neuroectodermal tumour" RELATED OMO:0003005 [] -synonym: "CNS PNET" RELATED [Orphanet:251870] +synonym: "CNS PNET" RELATED [] xref: GARD:20718 {source="MONDO:GARD"} xref: MedDRA:10057846 {source="Orphanet:251870", source="Orphanet:251870/e"} xref: MEDGEN:1389430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -382240,13 +382315,13 @@ synonym: "embryonal tumor with abundant neuropil and true Rosettes" EXACT [NCIT: synonym: "embryonal tumor with abundant neuropil and true rosettes" RELATED [GARD:0006352] synonym: "embryonal tumor with Multilayered Rosettes" EXACT [NCIT:C4915] synonym: "embryonal tumor with Multilayered Rosettes with C19MC amplification" EXACT [NCIT:C4915] -synonym: "embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [NCIT:C4915] +synonym: "embryonal tumor with Multilayered Rosettes, C19MC-altered" EXACT [DOID:0080903, NCIT:C4915] synonym: "embryonal tumour with abundant neuropil and true Rosettes" EXACT OMO:0003005 [] synonym: "embryonal tumour with abundant neuropil and true rosettes" RELATED OMO:0003005 [] synonym: "embryonal tumour with Multilayered Rosettes" EXACT OMO:0003005 [] synonym: "embryonal tumour with Multilayered Rosettes with C19MC amplification" EXACT OMO:0003005 [] synonym: "embryonal tumour with Multilayered Rosettes, C19MC-altered" EXACT OMO:0003005 [] -synonym: "ependymoblastoma" EXACT [NCIT:C4915] +synonym: "ependymoblastoma" EXACT [DOID:0080903, NCIT:C4915] synonym: "ETANTR" RELATED ABBREVIATION [GARD:0006352, ONCOTREE:ETANTR] synonym: "ETMR" RELATED ABBREVIATION [GARD:0006352] synonym: "ETMR, C19MC-altered" EXACT [NCIT:C4915] @@ -382287,7 +382362,7 @@ subset: ordo_group_of_disorders {source="Orphanet:251896"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "choroid plexus neoplasm" EXACT [NCIT:C3473] -synonym: "choroid plexus tumor" EXACT [NCIT:C3473] +synonym: "choroid plexus tumor" EXACT [NCIT:C3473, Orphanet:251896] synonym: "choroid plexus tumour" EXACT OMO:0003005 [] synonym: "neoplasm of choroid plexus" EXACT [NCIT:C3473] synonym: "neoplasm of the choroid plexus" EXACT [NCIT:C3473] @@ -382322,17 +382397,17 @@ subset: orphanet_rare {source="Orphanet:251899"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anaplastic choroid plexus papilloma" EXACT [NCIT:C4715] -synonym: "cancer of choroid plexus" BROAD [DOID:5648, NCIT:C4715] -synonym: "cancer of the choroid plexus" BROAD [NCIT:C4715] +synonym: "cancer of choroid plexus" BROAD [] +synonym: "cancer of the choroid plexus" BROAD [] synonym: "carcinoma of choroid plexus" EXACT [NCIT:C4715] synonym: "carcinoma of the choroid plexus" EXACT [NCIT:C4715] synonym: "carcinoma, choroid plexus, malignant" EXACT [NCIT:C4715] -synonym: "choroid plexus cancer" BROAD [NCIT:C4715] -synonym: "choroid plexus carcinoma" EXACT [NCIT:C4715] -synonym: "choroid plexus carcinoma (morphologic abnormality)" EXACT [DOID:5648] -synonym: "malignant neoplasm of choroid plexus" BROAD [DOID:5648] -synonym: "malignant neoplasm of the choroid plexus" BROAD [DOID:5648, NCIT:C4533] -synonym: "malignant tumor of choroid plexus" BROAD [DOID:5648] +synonym: "choroid plexus cancer" BROAD [] +synonym: "choroid plexus carcinoma" EXACT [DOID:5648, icd11.foundation:1128449352, NCIT:C4715, Orphanet:251899] +synonym: "choroid plexus carcinoma (morphologic abnormality)" EXACT [] +synonym: "malignant neoplasm of choroid plexus" BROAD [] +synonym: "malignant neoplasm of the choroid plexus" BROAD [] +synonym: "malignant tumor of choroid plexus" BROAD [] synonym: "malignant tumour of choroid plexus" BROAD OMO:0003005 [] xref: DOID:5648 {source="MONDO:equivalentTo"} xref: GARD:8238 {source="MONDO:GARD"} @@ -382418,7 +382493,7 @@ synonym: "pineal PNET" EXACT [DOID:1664, NCIT:C9344] synonym: "pineal primitive neuroectodermal neoplasm" EXACT [NCIT:C9344] synonym: "pineal primitive neuroectodermal tumor" EXACT [NCIT:C9344] synonym: "pineal primitive neuroectodermal tumour" EXACT OMO:0003005 [] -synonym: "pineoblastoma" EXACT [NCIT:C9344] +synonym: "pineoblastoma" EXACT [DOID:1664, NCIT:C9344, Orphanet:251909] synonym: "pineoblastoma (WHO grade IV)" EXACT [NCIT:C9344] synonym: "pineoblastoma, malignant" EXACT [NCIT:C9344] synonym: "PNET of pineal gland" EXACT [NCIT:C9344] @@ -382457,8 +382532,8 @@ subset: orphanet_rare {source="Orphanet:251912"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign pinealoma" EXACT [NCIT:C6966] -synonym: "pinealocytoma" EXACT [NCIT:C6966] -synonym: "pineocytoma" EXACT [MONDO:ambiguous, NCIT:C6966] +synonym: "pinealocytoma" EXACT [DOID:0081248, NCIT:C6966] +synonym: "pineocytoma" EXACT [DOID:0081248, icd11.foundation:2055142333, MONDO:ambiguous, NCIT:C6966, Orphanet:251912] synonym: "pineocytoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Pineocytoma (WHO grade I)" EXACT [NCIT:C6966] synonym: "pineocytoma, benign" EXACT [NCIT:C6966] @@ -382492,7 +382567,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:251915"} subset: orphanet_rare {source="Orphanet:251915"} subset: rare -synonym: "PTPR" EXACT ABBREVIATION [ONCOTREE:PTPR, Orphanet:251915] +synonym: "PTPR" EXACT ABBREVIATION [NCIT:C92624, ONCOTREE:PTPR, Orphanet:251915] xref: DOID:0081251 {source="MONDO:equivalentTo"} xref: GARD:20725 {source="MONDO:GARD"} xref: ICD10CM:D44.5 {source="Orphanet:251915", source="Orphanet:251915/ntbt"} @@ -382620,7 +382695,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:251940"} subset: orphanet_rare {source="Orphanet:251940"} subset: rare -synonym: "DIA/DIG" EXACT [Orphanet:251940] +synonym: "DIA/DIG" EXACT ABBREVIATION [Orphanet:251940] xref: GARD:20729 {source="MONDO:GARD"} xref: MEDGEN:1665232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:251940 {source="MONDO:equivalentTo"} @@ -382643,10 +382718,10 @@ subset: ordo_disorder {source="Orphanet:251949"} subset: orphanet_rare {source="Orphanet:251949"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult ganglioglioma" NARROW [DOID:5078] -synonym: "childhood ganglioglioma" NARROW [DOID:5078] +synonym: "adult ganglioglioma" NARROW [] +synonym: "childhood ganglioglioma" NARROW [] synonym: "CNS ganglioglioma" EXACT [DOID:5078] -synonym: "ganglioglioma" EXACT [NCIT:C3788] +synonym: "ganglioglioma" EXACT [DOID:5078, icd11.foundation:1287417975, NCIT:C3788, Orphanet:251949] synonym: "mixed cell tumors containing both neural ganglionic cells and neural glial cell components" RELATED [GARD:0002430] synonym: "mixed cell tumours containing both neural ganglionic cells and neural glial cell components" RELATED OMO:0003005 [] xref: DOID:5078 {source="MONDO:equivalentTo"} @@ -382705,7 +382780,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "papillary glioneuronal tumor (WHO grade I)" EXACT [NCIT:C92554] synonym: "papillary glioneuronal tumour (WHO grade I)" EXACT OMO:0003005 [] -synonym: "PGNT" EXACT ABBREVIATION [ONCOTREE:PGNT, Orphanet:251962] +synonym: "PGNT" EXACT ABBREVIATION [NCIT:C92554, ONCOTREE:PGNT, Orphanet:251962] synonym: "pseudopapillary ganglioglioneurocytoma" EXACT [Orphanet:251962] synonym: "pseudopapillary neurocytoma with glial differentiation" EXACT [Orphanet:251962] xref: DOID:0081283 {source="MONDO:equivalentTo"} @@ -382729,12 +382804,12 @@ subset: ordo_disorder {source="Orphanet:251975"} subset: orphanet_rare {source="Orphanet:251975"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DNT of the cerebellum" EXACT [Orphanet:251975] -synonym: "dysembryoplastic neuroepithelial tumor of cerebellum" EXACT [Orphanet:251975] +synonym: "DNT of the cerebellum" EXACT [] +synonym: "dysembryoplastic neuroepithelial tumor of cerebellum" EXACT [] synonym: "dysembryoplastic neuroepithelial tumour of cerebellum" EXACT OMO:0003005 [] -synonym: "RGNT" EXACT ABBREVIATION [Orphanet:251975] -synonym: "rosette-forming glioneuronal tumor" EXACT [NCIT:C129431] -synonym: "rosette-forming glioneuronal tumour" EXACT OMO:0003005 [] +synonym: "RGNT" EXACT ABBREVIATION [DOID:0081284, NCIT:C129431, Orphanet:251975] +synonym: "rosette-forming glioneuronal tumor" EXACT [DOID:0081284, NCIT:C129431, Orphanet:251975] +synonym: "rosette-forming glioneuronal tumour" EXACT OMO:0003005 [DOID:0081284] xref: DOID:0081284 {source="MONDO:equivalentTo"} xref: GARD:13593 {source="MONDO:GARD"} xref: MEDGEN:1377578 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -382753,7 +382828,7 @@ replaced_by: MONDO:0005033 id: MONDO:0016738 name: obsolete primary germ cell tumor of central nervous system subset: ordo_group_of_disorders {source="Orphanet:251995"} -synonym: "primary germ cell tumor of CNS" EXACT [Orphanet:251995] +synonym: "primary germ cell tumor of CNS" EXACT [] synonym: "primary germ cell tumour of CNS" EXACT OMO:0003005 [] xref: Orphanet:251995 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -382782,9 +382857,9 @@ synonym: "intracranial endodermal sinus tumor" EXACT [Orphanet:252006] synonym: "intracranial endodermal sinus tumour" EXACT OMO:0003005 [] synonym: "intracranial yolk sac tumor" EXACT [Orphanet:252006] synonym: "intracranial yolk sac tumour" EXACT OMO:0003005 [] -synonym: "yolk Sac tumor of central nervous system" EXACT [NCIT:C7011] -synonym: "yolk Sac tumor of CNS" EXACT [NCIT:C7011] -synonym: "yolk sac tumor of CNS" EXACT [Orphanet:252006] +synonym: "yolk Sac tumor of central nervous system" EXACT [NCIT:C7011, Orphanet:252006] +synonym: "yolk Sac tumor of CNS" EXACT [NCIT:C7011, Orphanet:252006] +synonym: "yolk sac tumor of CNS" EXACT [NCIT:C7011, Orphanet:252006] synonym: "yolk Sac tumor of the central nervous system" EXACT [NCIT:C7011] synonym: "yolk Sac tumor of the CNS" EXACT [NCIT:C7011] synonym: "yolk Sac tumour of central nervous system" EXACT OMO:0003005 [] @@ -382891,7 +382966,7 @@ synonym: "neoplasm of meningeal cluster" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of meninges" EXACT [NCIT:C3229] synonym: "neoplasm of the meninges" EXACT [NCIT:C3229] synonym: "tumor of meningeal cluster" EXACT [MONDO:patterns/neoplasm] -synonym: "tumor of meninges" EXACT [NCIT:C3229] +synonym: "tumor of meninges" EXACT [NCIT:C3229, Orphanet:252025] synonym: "tumor of the meninges" EXACT [NCIT:C3229] synonym: "tumour of meningeal cluster" EXACT OMO:0003005 [] synonym: "tumour of the meninges" EXACT OMO:0003005 [] @@ -382914,9 +382989,9 @@ intersection_of: disease_has_location UBERON:0010743 ! meningeal cluster id: MONDO:0016744 name: obsolete primary melanocytic tumor of central nervous system subset: ordo_group_of_disorders {source="Orphanet:252028"} -synonym: "primary melanocytic lesion of central nervous system" EXACT [Orphanet:252028] -synonym: "primary melanocytic lesion of CNS" EXACT [Orphanet:252028] -synonym: "primary melanocytic tumor of CNS" EXACT [Orphanet:252028] +synonym: "primary melanocytic lesion of central nervous system" EXACT [] +synonym: "primary melanocytic lesion of CNS" EXACT [] +synonym: "primary melanocytic tumor of CNS" EXACT [] synonym: "primary melanocytic tumour of CNS" EXACT OMO:0003005 [] xref: Orphanet:252028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -382935,7 +383010,7 @@ subset: ordo_disorder {source="Orphanet:252031"} subset: orphanet_rare {source="Orphanet:252031"} subset: rare synonym: "DLM" EXACT ABBREVIATION [Orphanet:252031] -synonym: "leptomeningeal melanomatosis" BROAD [Orphanet:252031] +synonym: "leptomeningeal melanomatosis" BROAD [] xref: GARD:20739 {source="MONDO:GARD"} xref: MEDGEN:1651380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:252031 {source="MONDO:equivalentTo"} @@ -382955,7 +383030,7 @@ subset: ordo_disorder {source="Orphanet:252046"} subset: orphanet_rare {source="Orphanet:252046"} subset: rare synonym: "leptomeningeal melanocytoma" EXACT [DOID:5900, NCIT:C4662] -synonym: "melanocytoma of meninges" EXACT [NCIT:C4662] +synonym: "melanocytoma of meninges" EXACT [DOID:5900, NCIT:C4662] synonym: "melanocytoma of the meninges" EXACT [NCIT:C4662] synonym: "meninges melanocytoma" EXACT [NCIT:C4662] xref: DOID:5900 {source="MONDO:equivalentTo"} @@ -382979,16 +383054,16 @@ subset: ordo_disorder {source="Orphanet:252050"} subset: orphanet_rare {source="Orphanet:252050"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Central nervous system melanoma" EXACT [NCIT:C5505] +synonym: "Central nervous system melanoma" EXACT [] synonym: "central nervous system melanoma" EXACT [] synonym: "central nervous system melanoma (disease)" EXACT [MONDO:patterns/location] -synonym: "CNS melanoma" EXACT [NCIT:C5505] -synonym: "malignant melanoma of meninges" NARROW [Orphanet:252050] +synonym: "CNS melanoma" EXACT [] +synonym: "malignant melanoma of meninges" NARROW [] synonym: "melanoma (disease) of central nervous system" EXACT [] -synonym: "melanoma of central nervous system" EXACT [NCIT:C5505] -synonym: "melanoma of CNS" EXACT [NCIT:C5505] -synonym: "melanoma of the Central nervous system" EXACT [NCIT:C5505] -synonym: "melanoma of the CNS" EXACT [NCIT:C5505] +synonym: "melanoma of central nervous system" EXACT [] +synonym: "melanoma of CNS" EXACT [] +synonym: "melanoma of the Central nervous system" EXACT [] +synonym: "melanoma of the CNS" EXACT [] synonym: "primary CNS melanoma" RELATED [GARD:0012016] synonym: "primary melanoma of the CNS" RELATED [GARD:0012016] synonym: "primary meningeal melanoma" RELATED [GARD:0012016] @@ -383017,7 +383092,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "angioblastoma" EXACT [NCIT:C3801] synonym: "capillary hemangioblastoma" EXACT [DOID:5241, NCIT:C3801] -synonym: "hemangioblastoma" EXACT [NCIT:C3801] +synonym: "hemangioblastoma" EXACT [DOID:5241, NCIT:C3801, Orphanet:252054] synonym: "HMBL" RELATED ABBREVIATION [ONCOTREE:HMBL] xref: DOID:5241 {source="MONDO:equivalentTo"} xref: GARD:8232 {source="MONDO:GARD"} @@ -383060,9 +383135,9 @@ subset: ordo_disorder {source="Orphanet:2521"} subset: ordo_malformation_syndrome {source="Orphanet:2521"} subset: orphanet_rare {source="Orphanet:2521"} subset: rare -synonym: "Halal syndrome" EXACT [Orphanet:2521] +synonym: "Halal syndrome" EXACT [] synonym: "microcephaly cleft palate autosomal dominant" RELATED [GARD:0008623] -synonym: "microcephaly-cleft palate-abnormal retinal pigmentation syndrome" RELATED [Orphanet:2521] +synonym: "microcephaly-cleft palate-abnormal retinal pigmentation syndrome" RELATED [] xref: GARD:8623 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:2521/attributed", source="Orphanet:2521/ntbt", source="Orphanet:2521"} xref: MEDGEN:419293 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -383082,11 +383157,11 @@ subset: gard_rare {source="GARD:20741", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:252128"} subset: rare -synonym: "malignant peripheral nerve sheath tumor with perineurial differentiation" EXACT [NCIT:C66845] +synonym: "malignant peripheral nerve sheath tumor with perineurial differentiation" EXACT [NCIT:C66845, Orphanet:252128] synonym: "malignant peripheral nerve sheath tumour with perineurial differentiation" EXACT OMO:0003005 [] synonym: "perineurial malignant peripheral nerve sheath tumor" EXACT [NCIT:C66845] synonym: "perineurial malignant peripheral nerve sheath tumour" EXACT OMO:0003005 [] -synonym: "perineurioma, malignant" EXACT [MONDO:patterns/malignant] +synonym: "perineurioma, malignant" EXACT [MONDO:patterns/malignant, NCIT:C66845] xref: GARD:20741 {source="MONDO:GARD"} xref: icd11.foundation:986576766 {source="MONDO:equivalentTo"} xref: ICDO:9571/3 {source="NCIT:C66845"} @@ -383138,7 +383213,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:252183"} subset: orphanet_rare {source="Orphanet:252183"} subset: rare -synonym: "neurofibroma" EXACT [NCIT:C3272] +synonym: "neurofibroma" EXACT [DOID:962, icd11.foundation:221014277, NCIT:C3272, Orphanet:252183] synonym: "neurofibroma (WHO grade I)" EXACT [NCIT:C3272] synonym: "neurofibroma, benign" EXACT [NCIT:C3272] synonym: "NFIB" RELATED ABBREVIATION [ONCOTREE:NFIB] @@ -383185,13 +383260,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335] synonym: "malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335] -synonym: "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma" EXACT [DOID:6707] +synonym: "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma" EXACT [DOID:6707, NCIT:C4335] synonym: "malignant peripheral nerve sheath tumor with rhabdomyosarcoma" EXACT [NCIT:C4335] synonym: "malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation" EXACT [Orphanet:252212] synonym: "malignant peripheral nerve sheath tumour with rhabdomyosarcoma" EXACT OMO:0003005 [] synonym: "malignant peripheral nerve sheath tumour with rhabdomyosarcomatous differenciation" EXACT OMO:0003005 [] -synonym: "malignant Triton tumor" EXACT [DOID:6707] -synonym: "malignant Triton tumour" EXACT OMO:0003005 [] +synonym: "malignant Triton tumor" EXACT [DOID:6707, NCIT:C4335, Orphanet:252212] +synonym: "malignant Triton tumour" EXACT OMO:0003005 [DOID:6707] synonym: "malignant tumor of peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335] synonym: "malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma" EXACT [NCIT:C4335] synonym: "malignant tumour of peripheral nerve sheath with rhabdomyosarcoma" EXACT OMO:0003005 [] @@ -383246,7 +383321,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2524"} subset: orphanet_rare {source="Orphanet:2524"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PCH2" EXACT ABBREVIATION [Orphanet:2524] +synonym: "PCH2" EXACT ABBREVIATION [DOID:0112328, NCIT:C124057, Orphanet:2524] synonym: "progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy" RELATED [GARD:0010705] xref: DOID:0112328 {source="MONDO:equivalentTo"} xref: GARD:10705 {source="MONDO:GARD"} @@ -383304,8 +383379,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SED" EXACT ABBREVIATION [https://orcid.org/0000-0001-8612-1062] -synonym: "spondyloepiphyseal dysplasia" EXACT CLINGEN_LABEL [] +synonym: "SED" EXACT ABBREVIATION [DOID:0112280, https://orcid.org/0000-0001-8612-1062] +synonym: "spondyloepiphyseal dysplasia" EXACT CLINGEN_LABEL [DOID:0112280] xref: DOID:0112280 {source="MONDO:equivalentTo"} xref: ICD10CM:Q77.7 {source="Orphanet:253/specific", source="Orphanet:253/e", source="Orphanet:253"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -383343,7 +383418,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:254"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spondylometaphyseal dysplasia" EXACT CLINGEN_LABEL [] +synonym: "spondylometaphyseal dysplasia" EXACT CLINGEN_LABEL [DOID:0112295, OMIMPS:184255, Orphanet:254] xref: DOID:0112295 {source="MONDO:equivalentTo"} xref: GARD:18685 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:254/attributed", source="Orphanet:254/ntbt", source="Orphanet:254"} @@ -383371,8 +383446,8 @@ subset: rare synonym: "clinical anophthalmia" RELATED [GARD:0012085] synonym: "isolated anophthalmia - microphthalmia" RELATED [GARD:0012085] synonym: "isolated pure microphthalmia" RELATED [GARD:0012085] -synonym: "MAC spectrum" EXACT [Orphanet:2542] -synonym: "microphthalmia-anophthalmia-coloboma spectrum" EXACT [Orphanet:2542] +synonym: "MAC spectrum" EXACT [] +synonym: "microphthalmia-anophthalmia-coloboma spectrum" EXACT [] synonym: "nonsyndromic anophthalmia-microphthalmia syndrome" EXACT [MONDO:patterns/isolated] synonym: "primitive anophthalmia" RELATED [GARD:0012085] xref: GARD:12085 {source="MONDO:GARD"} @@ -383420,7 +383495,7 @@ def: "OBSOLETE. Lichen planus (LP) is a common inflammatory dermatosis character subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254367"} synonym: "rare lichen planus" EXACT [MONDO:patterns/rare] -synonym: "rare LP" EXACT [Orphanet:254367] +synonym: "rare LP" EXACT [] xref: ICD10CM:L43.0 {source="Orphanet:254367/btnt", source="Orphanet:254367"} xref: ICD10CM:L43.1 {source="Orphanet:254367/btnt", source="Orphanet:254367"} xref: ICD10CM:L43.2 {source="Orphanet:254367/btnt", source="Orphanet:254367"} @@ -383439,8 +383514,8 @@ id: MONDO:0016767 name: obsolete cutaneous lichen planus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254370"} -synonym: "rare cutaneous lichen planus" EXACT DEPRECATED [Orphanet:254370] -synonym: "rare cutaneous LP" EXACT [Orphanet:254370] +synonym: "rare cutaneous lichen planus" EXACT DEPRECATED [] +synonym: "rare cutaneous LP" EXACT [] xref: ICD10CM:L43.0 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} xref: ICD10CM:L43.1 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} xref: ICD10CM:L43.2 {source="Orphanet:254370/ntbt", source="Orphanet:254370"} @@ -383460,7 +383535,7 @@ id: MONDO:0016768 name: obsolete rare mucosal lichen planus subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:254373"} -synonym: "rare mucosal LP" EXACT [Orphanet:254373] +synonym: "rare mucosal LP" EXACT [] xref: ICD10CM:L43.0 {source="Orphanet:254373", source="Orphanet:254373/ntbt"} xref: ICD10CM:L43.1 {source="Orphanet:254373", source="MONDO:relatedTo", source="Orphanet:254373/ntbt"} xref: ICD10CM:L43.2 {source="Orphanet:254373", source="Orphanet:254373/ntbt"} @@ -383696,8 +383771,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:254519"} subset: orphanet_rare {source="Orphanet:254519"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Kagami-Ogata syndrome" EXACT [https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/, Orphanet:254519, PMID:34760887] -synonym: "MCA due to 14q32.2 maternally expressed gene defect" EXACT [Orphanet:254519] +synonym: "Kagami-Ogata syndrome" EXACT [DOID:0111712, https://clinicalgenome.org/working-groups/dosage-sensitivity-curation/, Orphanet:254519, PMID:34760887] +synonym: "MCA due to 14q32.2 maternally expressed gene defect" EXACT [] xref: DOID:0111712 {source="MONDO:equivalentTo"} xref: GARD:17219 {source="MONDO:GARD"} xref: MEDGEN:1830421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -383723,7 +383798,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:254525"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "paternal del(14)(q32.2)" EXACT [Orphanet:254525] -synonym: "paternal monosomy 14q32.2" EXACT [Orphanet:254525] +synonym: "paternal monosomy 14q32.2" EXACT [] xref: GARD:17220 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:254525", source="Orphanet:254525/attributed", source="Orphanet:254525/ntbt"} xref: MEDGEN:1842589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -383809,9 +383884,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:254688"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "classical hydatidiform Mole" EXACT [NCIT:C4871] +synonym: "classical hydatidiform Mole" EXACT [icd11.foundation:1338299833, NCIT:C4871] synonym: "complete hydatid Mole" EXACT [NCIT:C4871] -synonym: "complete molar pregnancy" EXACT [Orphanet:254688] +synonym: "complete molar pregnancy" EXACT [NCIT:C4871, Orphanet:254688] synonym: "complete Mole" EXACT [NCIT:C4871] xref: GARD:17224 {source="MONDO:GARD"} xref: ICD10CM:O01.0 {source="Orphanet:254688", source="Orphanet:254688/e"} @@ -383833,10 +383908,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:254693"} subset: rare synonym: "incomplete hydatid Mole" EXACT [NCIT:C4293] -synonym: "incomplete hydatidiform mole" EXACT [Orphanet:254693] -synonym: "incomplete molar pregnancy" EXACT [Orphanet:254693] +synonym: "incomplete hydatidiform mole" EXACT [icd11.foundation:714020909, NCIT:C4293, Orphanet:254693] +synonym: "incomplete molar pregnancy" EXACT [NCIT:C4293, Orphanet:254693] synonym: "partial hydatid Mole" EXACT [NCIT:C4293] -synonym: "partial molar pregnancy" EXACT [Orphanet:254693] +synonym: "partial molar pregnancy" EXACT [NCIT:C4293, Orphanet:254693] synonym: "partial Mole" EXACT [NCIT:C4293] synonym: "PHM" RELATED ABBREVIATION [ONCOTREE:PHM] xref: GARD:20749 {source="MONDO:GARD"} @@ -383860,7 +383935,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:254698"} subset: orphanet_rare {source="Orphanet:254698"} subset: rare -synonym: "epithelioid trophoblastic tumor" EXACT [MONDO:0002700] +synonym: "epithelioid trophoblastic tumor" EXACT [DOID:3593, MONDO:0002700, NCIT:C6900, Orphanet:254698] synonym: "ETT" RELATED ABBREVIATION [ONCOTREE:ETT] xref: DOID:3593 {source="MONDO:equivalentTo"} xref: GARD:20750 {source="MONDO:GARD"} @@ -383883,7 +383958,7 @@ def: "OBSOLETE. Genetic hyperferritinemia without iron overload is a rare biolog comment: This is a biological anomaly and not a disease. subset: ordo_biological_anomaly {source="Orphanet:254704"} subset: ordo_disorder {source="Orphanet:254704"} -synonym: "benign hyperferritinemia" EXACT [Orphanet:254704] +synonym: "benign hyperferritinemia" EXACT [] xref: Orphanet:254704 {source="MONDO:obsoleteEquivalent"} xref: SCTID:766929007 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -383940,9 +384015,9 @@ id: MONDO:0016791 name: obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' subset: ordo_group_of_disorders {source="Orphanet:254758"} -synonym: "mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies" EXACT [Orphanet:254758] -synonym: "OXPHOS disease due to mitochondrial DNA anomalies" EXACT [Orphanet:254758] -synonym: "OXPHOS disease due to mtDNA anomalies" EXACT [Orphanet:254758] +synonym: "mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies" EXACT [] +synonym: "OXPHOS disease due to mitochondrial DNA anomalies" EXACT [] +synonym: "OXPHOS disease due to mtDNA anomalies" EXACT [] xref: Orphanet:254758 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -383954,9 +384029,9 @@ id: MONDO:0016792 name: obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' subset: ordo_group_of_disorders {source="Orphanet:254767"} -synonym: "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA" EXACT [Orphanet:254767] -synonym: "OXPHOS disease due to a large-scale single deletion of mitochondrial DNA" EXACT [Orphanet:254767] -synonym: "OXPHOS disease due to a large-scale single deletion of mtDNA" EXACT [Orphanet:254767] +synonym: "mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA" EXACT [] +synonym: "OXPHOS disease due to a large-scale single deletion of mitochondrial DNA" EXACT [] +synonym: "OXPHOS disease due to a large-scale single deletion of mtDNA" EXACT [] xref: Orphanet:254767 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -383968,9 +384043,9 @@ id: MONDO:0016793 name: obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' subset: ordo_group_of_disorders {source="Orphanet:254776"} -synonym: "mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA" EXACT [Orphanet:254776] -synonym: "OXPHOS disease due to a point mutation of mitochondrial DNA" EXACT [Orphanet:254776] -synonym: "OXPHOS disease due to a point mutation of mtDNA" EXACT [Orphanet:254776] +synonym: "mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA" EXACT [] +synonym: "OXPHOS disease due to a point mutation of mitochondrial DNA" EXACT [] +synonym: "OXPHOS disease due to a point mutation of mtDNA" EXACT [] xref: NANDO:2200524 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:254776 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -383995,9 +384070,9 @@ is_obsolete: true id: MONDO:0016795 name: obsolete mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' -synonym: "mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA" EXACT [Orphanet:254793] -synonym: "OXPHOS disease due to a duplication of mitochondrial DNA" EXACT [Orphanet:254793] -synonym: "OXPHOS disease due to a duplication of mtDNA" EXACT [Orphanet:254793] +synonym: "mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA" EXACT [] +synonym: "OXPHOS disease due to a duplication of mitochondrial DNA" EXACT [] +synonym: "OXPHOS disease due to a duplication of mtDNA" EXACT [] xref: Orphanet:254793 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -384027,7 +384102,7 @@ name: obsolete multiple mitochondrial DNA deletion syndrome def: "OBSOLETE. A mitochondrial oxidative phosphorylation disorder in which mitochondrial DNA (mtDNA) level is lower than normal." [PMID:24266892] subset: ordo_group_of_disorders {source="Orphanet:254807"} subset: otar {source="MONDO:OTAR"} -synonym: "multiple mtDNA deletion syndrome" EXACT [Orphanet:254807] +synonym: "multiple mtDNA deletion syndrome" EXACT [] xref: icd11.foundation:194083556 {source="Orphanet:254807", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:254807 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384057,7 +384132,7 @@ id: MONDO:0016799 name: obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder' subset: ordo_group_of_disorders {source="Orphanet:254822"} -synonym: "OXPHOS disease with no known mechanism" EXACT [Orphanet:254822] +synonym: "OXPHOS disease with no known mechanism" EXACT [] xref: Orphanet:254822 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -384113,7 +384188,7 @@ is_a: MONDO:0016800 {source="Orphanet:254834", source="icd11.foundation:11211012 id: MONDO:0016803 name: obsolete unspecified inborn mitochondrial disorder subset: ordo_group_of_disorders {source="Orphanet:254837"} -synonym: "unspecified mitochondrial disorder" EXACT [Orphanet:254837] +synonym: "unspecified mitochondrial disorder" EXACT [] xref: Orphanet:254837 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -384134,7 +384209,7 @@ is_obsolete: true id: MONDO:0016805 name: obsolete isolated oxidative phosphorylation complex disorder subset: ordo_group_of_disorders {source="Orphanet:254846"} -synonym: "isolated respiratory chain complex disorder" EXACT [Orphanet:254846] +synonym: "isolated respiratory chain complex disorder" EXACT [] xref: Orphanet:254846 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -384257,7 +384332,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:255"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dopa-responsive dystonia" EXACT CLINGEN_LABEL [] +synonym: "dopa-responsive dystonia" EXACT CLINGEN_LABEL [icd11.foundation:1534901505, NCIT:C116719, Orphanet:255] synonym: "DYT-GCH1 (subtype)" RELATED [GARD:0009817] synonym: "DYT-SPR (subtype)" RELATED [GARD:0009817] synonym: "DYT-TH (subtype)" RELATED [GARD:0009817] @@ -384318,8 +384393,8 @@ id: MONDO:0016815 name: obsolete Leigh syndrome with leukodystrophy subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} -synonym: "infantile subacute necrotizing encephalopathy with leukodystrophy" EXACT [Orphanet:255241] -synonym: "Leigh disease with leukodystrophy" EXACT [Orphanet:255241] +synonym: "infantile subacute necrotizing encephalopathy with leukodystrophy" EXACT [] +synonym: "Leigh disease with leukodystrophy" EXACT [] xref: ICD10CM:G31.8 {source="Orphanet:255241/attributed", source="Orphanet:255241/ntbt", source="Orphanet:255241"} xref: Orphanet:255241 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384336,8 +384411,8 @@ id: MONDO:0016816 name: obsolete Leigh syndrome with nephrotic syndrome subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} -synonym: "infantile subacute necrotizing encephalopathy with nephrotic syndrome" EXACT [Orphanet:255249] -synonym: "Leigh disease with nephrotic syndrome" EXACT [Orphanet:255249] +synonym: "infantile subacute necrotizing encephalopathy with nephrotic syndrome" EXACT [] +synonym: "Leigh disease with nephrotic syndrome" EXACT [] xref: ICD10CM:G31.8 {source="Orphanet:255249", source="Orphanet:255249/attributed", source="Orphanet:255249/ntbt"} xref: Orphanet:255249 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -384359,8 +384434,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2554"} subset: orphanet_rare {source="Orphanet:2554"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ear-patella-short stature syndrome" EXACT [DOID:0060306] -synonym: "Meier-Gorlin syndrome" EXACT [Orphanet:2554] +synonym: "ear-patella-short stature syndrome" EXACT [DOID:0060306, Orphanet:2554] +synonym: "Meier-Gorlin syndrome" EXACT [DOID:0060306, OMIMPS:224690, Orphanet:2554] xref: DOID:0060306 {source="MONDO:equivalentTo"} xref: GARD:2033 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2554/attributed", source="Orphanet:2554/ntbt", source="Orphanet:2554"} @@ -384437,7 +384512,7 @@ synonym: "idiopathic Moyamoya disease" EXACT [Orphanet:2573] synonym: "Moyamoya disease, primary" RELATED [GARD:0007064] synonym: "Moyamoya disease, secondary" RELATED [GARD:0007064] synonym: "MYMY" RELATED ABBREVIATION [GARD:0007064] -synonym: "progressive intracranial arterial occlusion" EXACT [DOID:13099] +synonym: "progressive intracranial arterial occlusion" EXACT [DOID:13099, icd11.foundation:369231682] xref: DOID:13099 {source="MONDO:equivalentTo"} xref: GARD:7064 {source="MONDO:GARD"} xref: ICD10CM:I67.5 {source="Orphanet:2573", source="Orphanet:2573/e", source="DOID:13099", source="Orphanet:2573/specific"} @@ -384538,7 +384613,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "IMS" RELATED ABBREVIATION [ONCOTREE:IMS] synonym: "infantile hemangiopericytoma" EXACT [NCIT:C3742] -synonym: "infantile myofibromatosis" EXACT [NCIT:C3742] +synonym: "infantile myofibromatosis" EXACT [DOID:0080109, NCIT:C3742, OMIMPS:228550, Orphanet:2591] synonym: "multicentric myofibromatosis" EXACT [NCIT:C3742] synonym: "myofibromatosis" EXACT [NCIT:C3742] xref: DOID:0080109 {source="MONDO:equivalentTo"} @@ -384575,7 +384650,7 @@ subset: rare synonym: "metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness" RELATED [GARD:0003682] synonym: "mitochondrial myopathy with lactic acidosis" EXACT [MONDO:Lexical, OMIM:251950] synonym: "mitochondrial myopathy-lactic acidosis-hearing loss syndrome" EXACT [Orphanet:2597] -synonym: "MMLA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:251950] +synonym: "MMLA" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:3682 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:2597", source="Orphanet:2597/attributed", source="Orphanet:2597/ntbt"} xref: MEDGEN:343245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -384645,7 +384720,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ARSA" EXACT ABBREVIATION [Orphanet:260305] synonym: "congenital sideroblastic anaemia" BROAD OMO:0003005 [] -synonym: "congenital sideroblastic anemia" BROAD [Orphanet:260305] +synonym: "congenital sideroblastic anemia" BROAD [] synonym: "sideroblastic anemia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: GARD:17240 {source="MONDO:GARD"} xref: ICD10CM:D64.0 {source="Orphanet:260305/attributed", source="Orphanet:260305/ntbt", source="Orphanet:260305"} @@ -384696,9 +384771,9 @@ subset: ordo_disorder {source="Orphanet:261"} subset: orphanet_rare {source="Orphanet:261"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EDMD" EXACT ABBREVIATION [DOID:11726, Orphanet:261] +synonym: "EDMD" EXACT ABBREVIATION [DOID:11726, NCIT:C84685, Orphanet:261] synonym: "Emery Dreifuss Muscular Dystrophy" EXACT [NORD:1084] -synonym: "Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_LABEL [] +synonym: "Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_LABEL [DOID:11726, icd11.foundation:749295636, NCIT:C84685, OMIMPS:310300, Orphanet:261] synonym: "Humeroperoneal neuromuscular disease, (formerly)" RELATED [GARD:0006329] synonym: "scapuloperoneal syndrome, X-linked (formerly)" RELATED [GARD:0006329] xref: DOID:11726 {source="MONDO:equivalentTo"} @@ -384797,7 +384872,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:261204"} subset: orphanet_rare {source="Orphanet:261204"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "16p11.2 microduplication syndrome" EXACT [DECIPHER:78, Orphanet:261204] +synonym: "16p11.2 microduplication syndrome" EXACT [DECIPHER:78] synonym: "16p11.2-p12.2 microduplication syndrome" EXACT [DECIPHER:96] synonym: "dup(16)(p11.2p12.2)" EXACT [Orphanet:261204] synonym: "trisomy 16p11.2p12.2" EXACT [Orphanet:261204] @@ -384924,7 +384999,7 @@ subset: ordo_disorder {source="Orphanet:261257"} subset: ordo_malformation_syndrome {source="Orphanet:261257"} subset: orphanet_rare {source="Orphanet:261257"} subset: rare -synonym: "distal del(17)(p13.3)" EXACT [Orphanet:261257] +synonym: "distal del(17)(p13.3)" EXACT [] synonym: "distal monosomy 17p13.3" EXACT [Orphanet:261257] xref: GARD:20776 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261257", source="Orphanet:261257/attributed", source="Orphanet:261257/ntbt"} @@ -384954,7 +385029,7 @@ synonym: "chromosome 17p duplication" RELATED [GARD:0005318] synonym: "dup(17p)" EXACT [Orphanet:261290] synonym: "Duplication 17p" RELATED [GARD:0005318] synonym: "partial trisomy 17p" RELATED [GARD:0005318] -synonym: "trisomy type 17p" EXACT [MONDORULE:4, Orphanet:261290] +synonym: "trisomy type 17p" EXACT [MONDORULE:4] xref: GARD:5318 {source="MONDO:GARD"} xref: ICD10CM:Q92.2 {source="Orphanet:261290/attributed", source="Orphanet:261290/ntbt", source="Orphanet:261290"} xref: MEDGEN:167078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -385000,9 +385075,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:261304"} subset: orphanet_rare {source="Orphanet:261304"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "paternal 20q13.2-q13.3 microdeletion syndrome" EXACT [Orphanet:261304] +synonym: "paternal 20q13.2-q13.3 microdeletion syndrome" EXACT [] synonym: "paternal del(20)(q13.2q13.3)" EXACT [Orphanet:261304] -synonym: "paternal monosomy 20q13.2-q13.3" EXACT [Orphanet:261304] +synonym: "paternal monosomy 20q13.2-q13.3" EXACT [] synonym: "paternal monosomy 20q13.2q13.3" EXACT [Orphanet:261304] xref: GARD:20777 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261304/attributed", source="Orphanet:261304/ntbt", source="Orphanet:261304"} @@ -385061,8 +385136,8 @@ synonym: "partial duplication of the short arm of chromosome 20" EXACT [Orphanet synonym: "partial trisomy 20p" RELATED [GARD:0005333] synonym: "partial trisomy of chromosome 20p" EXACT [Orphanet:261318] synonym: "partial trisomy of the short arm of chromosome 20" EXACT [Orphanet:261318] -synonym: "trisomy 20p" EXACT [GARD:0005333] -synonym: "trisomy type 20p" EXACT [MONDORULE:4, Orphanet:261318] +synonym: "trisomy 20p" EXACT [GARD:0005333, Orphanet:261318] +synonym: "trisomy type 20p" EXACT [MONDORULE:4] xref: GARD:5333 {source="MONDO:GARD"} xref: ICD10CM:Q92.2 {source="Orphanet:261318/attributed", source="Orphanet:261318/ntbt", source="Orphanet:261318"} xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -385083,9 +385158,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:261323"} subset: orphanet_rare {source="Orphanet:261323"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "21q22.11-q22.12 microdeletion syndrome" EXACT [Orphanet:261323] +synonym: "21q22.11-q22.12 microdeletion syndrome" EXACT [] synonym: "Del(21)(q22.11q22.12)" EXACT [Orphanet:261323] -synonym: "monosomy 21q22.11-q22.12" EXACT [Orphanet:261323] +synonym: "monosomy 21q22.11-q22.12" EXACT [] synonym: "monosomy 21q22.11q22.12" EXACT [Orphanet:261323] xref: GARD:20779 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261323", source="Orphanet:261323/attributed", source="Orphanet:261323/ntbt"} @@ -385134,7 +385209,7 @@ subset: orphanet_rare {source="Orphanet:261344"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Duplication 1q" EXACT [Orphanet:261344] -synonym: "trisomy type 1q" EXACT [MONDORULE:4, Orphanet:261344] +synonym: "trisomy type 1q" EXACT [MONDORULE:4] xref: GARD:20781 {source="MONDO:GARD"} xref: ICD10CM:Q92.2 {source="Orphanet:261344", source="Orphanet:261344/attributed", source="Orphanet:261344/ntbt"} xref: MEDGEN:1636619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -385214,7 +385289,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:261519"} subset: orphanet_rare {source="Orphanet:261519"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "maternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:261519] +synonym: "maternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1] synonym: "UPD(X)mat" EXACT [Orphanet:261519] xref: GARD:20783 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:261519/attributed", source="Orphanet:261519/ntbt", source="Orphanet:261519"} @@ -385235,7 +385310,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:261524"} subset: orphanet_rare {source="Orphanet:261524"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "paternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:261524] +synonym: "paternal uniparental disomy of chromosome type X" EXACT [MONDORULE:1] synonym: "UPD(X)pat" EXACT [Orphanet:261524] xref: GARD:20784 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:261524/attributed", source="Orphanet:261524/ntbt", source="Orphanet:261524"} @@ -385258,8 +385333,8 @@ subset: orphanet_rare {source="Orphanet:261529"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "r(Y)" EXACT [Orphanet:261529] -synonym: "Ring chromosome type Y" EXACT [MONDORULE:1, Orphanet:261529] -synonym: "Ring chromosome Y syndrome" RELATED [Orphanet:261529] +synonym: "Ring chromosome type Y" EXACT [MONDORULE:1] +synonym: "Ring chromosome Y syndrome" RELATED [] xref: GARD:20785 {source="MONDO:GARD"} xref: ICD10CM:Q98.6 {source="Orphanet:261529", source="Orphanet:261529/attributed", source="Orphanet:261529/ntbt"} xref: icd11.foundation:388539343 {source="MONDO:equivalentTo"} @@ -385308,7 +385383,7 @@ synonym: "Hirschsprung disease and intellectual disability due to del(2)(q22)" E synonym: "Hirschsprung disease and intellectual disability due to monosomy 2q22" EXACT [Orphanet:261537] synonym: "Mowat-Wilson syndrome due to 2q22 microdeletion" EXACT [Orphanet:261537] synonym: "Mowat-Wilson syndrome due to del(2)q(22)" EXACT [Orphanet:261537] -synonym: "Mowat-Wilson syndrome due to monosomy type 2q22" EXACT [MONDORULE:7, Orphanet:261537] +synonym: "Mowat-Wilson syndrome due to monosomy type 2q22" EXACT [MONDORULE:7] xref: GARD:17248 {source="MONDO:GARD"} xref: ICD10CM:Q43.1 {source="Orphanet:261537/attributed", source="Orphanet:261537/ntbt", source="Orphanet:261537"} xref: MEDGEN:1723926 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -385370,7 +385445,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: ordo_etiological_subtype {source="Orphanet:261572"} subset: rare -synonym: "blepharophimosis types 1 and 2 due to a point mutation" EXACT [Orphanet:261572] +synonym: "blepharophimosis types 1 and 2 due to a point mutation" EXACT [] xref: ICD10CM:Q10.3 {source="Orphanet:261572/attributed", source="Orphanet:261572/ntbt", source="Orphanet:261572"} xref: Orphanet:261572 {source="MONDO:equivalentObsolete"} is_a: MONDO:0007201 {source="Orphanet:261572"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome @@ -385388,8 +385463,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: ordo_etiological_subtype {source="Orphanet:261579"} subset: rare -synonym: "blepharophimosis types 1 and 2 due to copy number variations" EXACT [Orphanet:261579] -synonym: "blepharophimosis-epicanthus inversus-ptosis due to a CNV" EXACT [Orphanet:261579] +synonym: "blepharophimosis types 1 and 2 due to copy number variations" EXACT [] +synonym: "blepharophimosis-epicanthus inversus-ptosis due to a CNV" EXACT [] xref: ICD10CM:Q10.3 {source="Orphanet:261579/attributed", source="Orphanet:261579/ntbt", source="Orphanet:261579"} xref: Orphanet:261579 {source="MONDO:equivalentObsolete"} is_a: MONDO:0007201 {source="Orphanet:261579"} ! blepharophimosis, ptosis, and epicanthus inversus syndrome @@ -385458,16 +385533,16 @@ subset: ordo_etiological_subtype {source="Orphanet:261619"} subset: ordo_subtype_of_a_disorder {source="Orphanet:261619"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alagille syndrome 1" RELATED [MONDO:Lexical, OMIM:118450] -synonym: "Alagille syndrome due to a JAG1 point mutation" EXACT CLINGEN_LABEL [] -synonym: "Alagille syndrome type 1" EXACT [MONDORULE:1, OMIM:118450] -synonym: "Alagille-Watson syndrome" RELATED [OMIM:118450] +synonym: "Alagille syndrome 1" RELATED [MONDO:Lexical] +synonym: "Alagille syndrome due to a JAG1 point mutation" EXACT CLINGEN_LABEL [Orphanet:261619] +synonym: "Alagille syndrome type 1" EXACT [MONDORULE:1] +synonym: "Alagille-Watson syndrome" RELATED [] synonym: "Alagille-Watson syndrome due to a JAG1 point mutation" EXACT [Orphanet:261619] -synonym: "ALGS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118450] -synonym: "arteriohepatic dysplasia" RELATED [OMIM:118450] +synonym: "ALGS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "arteriohepatic dysplasia" RELATED [] synonym: "arteriohepatic dysplasia due to a JAG1 point mutation" EXACT [Orphanet:261619] -synonym: "cholestasis with peripheral pulmonary stenosis" RELATED [OMIM:118450] -synonym: "hepatic ductular hypoplasia, syndromatic" RELATED [OMIM:118450] +synonym: "cholestasis with peripheral pulmonary stenosis" RELATED [] +synonym: "hepatic ductular hypoplasia, syndromatic" RELATED [] synonym: "syndromic bile duct paucity due to a JAG1 point mutation" EXACT [Orphanet:261619] xref: GARD:17251 {source="MONDO:GARD"} xref: ICD10CM:Q44.7 {source="Orphanet:261619", source="Orphanet:261619/attributed", source="Orphanet:261619/ntbt"} @@ -385543,7 +385618,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20789", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261766"} subset: rare -synonym: "partial deletion of chromosome type 1" EXACT [MONDORULE:1, Orphanet:261766] +synonym: "partial deletion of chromosome type 1" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 1" EXACT [Orphanet:261766] xref: GARD:20789 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261766/attributed", source="Orphanet:261766/ntbt", source="Orphanet:261766"} @@ -385561,7 +385636,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20790", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261771"} subset: rare -synonym: "partial deletion of chromosome type 2" EXACT [MONDORULE:1, Orphanet:261771] +synonym: "partial deletion of chromosome type 2" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 2" EXACT [Orphanet:261771] xref: GARD:20790 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261771", source="Orphanet:261771/attributed", source="Orphanet:261771/ntbt"} @@ -385579,7 +385654,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20791", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261776"} subset: rare -synonym: "partial deletion of chromosome type 3" EXACT [MONDORULE:1, Orphanet:261776] +synonym: "partial deletion of chromosome type 3" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 3" EXACT [Orphanet:261776] xref: GARD:20791 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261776", source="Orphanet:261776/attributed", source="Orphanet:261776/ntbt"} @@ -385597,7 +385672,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20792", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261781"} subset: rare -synonym: "partial deletion of chromosome type 4" EXACT [MONDORULE:1, Orphanet:261781] +synonym: "partial deletion of chromosome type 4" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 4" EXACT [Orphanet:261781] xref: GARD:20792 {source="MONDO:GARD"} xref: MEDGEN:1825958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -385614,7 +385689,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20793", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261786"} subset: rare -synonym: "partial deletion of chromosome type 5" EXACT [MONDORULE:1, Orphanet:261786] +synonym: "partial deletion of chromosome type 5" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 5" EXACT [Orphanet:261786] xref: GARD:20793 {source="MONDO:GARD"} xref: MEDGEN:1825959 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -385631,7 +385706,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20794", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261791"} subset: rare -synonym: "partial deletion of chromosome type 6" EXACT [MONDORULE:1, Orphanet:261791] +synonym: "partial deletion of chromosome type 6" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 6" EXACT [Orphanet:261791] xref: GARD:20794 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261791/attributed", source="Orphanet:261791/ntbt", source="Orphanet:261791"} @@ -385649,7 +385724,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20795", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261796"} subset: rare -synonym: "partial deletion of chromosome type 7" EXACT [MONDORULE:1, Orphanet:261796] +synonym: "partial deletion of chromosome type 7" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 7" EXACT [Orphanet:261796] xref: GARD:20795 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261796", source="Orphanet:261796/attributed", source="Orphanet:261796/ntbt"} @@ -385667,7 +385742,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20796", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261801"} subset: rare -synonym: "partial deletion of chromosome type 8" EXACT [MONDORULE:1, Orphanet:261801] +synonym: "partial deletion of chromosome type 8" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 8" EXACT [Orphanet:261801] xref: GARD:20796 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261801/attributed", source="Orphanet:261801/ntbt", source="Orphanet:261801"} @@ -385685,7 +385760,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20797", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261806"} subset: rare -synonym: "partial deletion of chromosome type 9" EXACT [MONDORULE:1, Orphanet:261806] +synonym: "partial deletion of chromosome type 9" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 9" EXACT [Orphanet:261806] xref: GARD:20797 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261806", source="Orphanet:261806/attributed", source="Orphanet:261806/ntbt"} @@ -385720,7 +385795,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20799", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261816"} subset: rare -synonym: "partial deletion of chromosome type 11" EXACT [MONDORULE:2, Orphanet:261816] +synonym: "partial deletion of chromosome type 11" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 11" EXACT [Orphanet:261816] xref: GARD:20799 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261816/attributed", source="Orphanet:261816/ntbt", source="Orphanet:261816"} @@ -385739,7 +385814,7 @@ subset: gard_rare {source="GARD:20800", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261821"} subset: rare synonym: "partial deletion of chromosome 12q" EXACT [Orphanet:261821] -synonym: "partial deletion of the long arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:261821] +synonym: "partial deletion of the long arm of chromosome type 12" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 12q" EXACT [Orphanet:261821] synonym: "partial monosomy of the long arm of chromosome 12" EXACT [Orphanet:261821] xref: GARD:20800 {source="MONDO:GARD"} @@ -385760,7 +385835,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20801", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261826"} subset: rare -synonym: "partial deletion of chromosome type 16" EXACT [MONDORULE:2, Orphanet:261826] +synonym: "partial deletion of chromosome type 16" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 16" EXACT [Orphanet:261826] xref: GARD:20801 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261826", source="Orphanet:261826/attributed", source="Orphanet:261826/ntbt"} @@ -385778,7 +385853,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20802", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261831"} subset: rare -synonym: "partial deletion of chromosome type 17" EXACT [MONDORULE:2, Orphanet:261831] +synonym: "partial deletion of chromosome type 17" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 17" EXACT [Orphanet:261831] xref: GARD:20802 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261831", source="Orphanet:261831/attributed", source="Orphanet:261831/ntbt"} @@ -385796,7 +385871,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20803", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261836"} subset: rare -synonym: "partial deletion of chromosome type 18" EXACT [MONDORULE:2, Orphanet:261836] +synonym: "partial deletion of chromosome type 18" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 18" EXACT [Orphanet:261836] xref: GARD:20803 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261836", source="Orphanet:261836/attributed", source="Orphanet:261836/ntbt"} @@ -385814,7 +385889,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20804", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261841"} subset: rare -synonym: "partial deletion of chromosome type 19" EXACT [MONDORULE:2, Orphanet:261841] +synonym: "partial deletion of chromosome type 19" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 19" EXACT [Orphanet:261841] xref: GARD:20804 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261841/attributed", source="Orphanet:261841/ntbt", source="Orphanet:261841"} @@ -385832,7 +385907,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20805", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261846"} subset: rare -synonym: "partial deletion of chromosome type 20" EXACT [MONDORULE:2, Orphanet:261846] +synonym: "partial deletion of chromosome type 20" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 20" EXACT [Orphanet:261846] xref: GARD:20805 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261846/attributed", source="Orphanet:261846/ntbt", source="Orphanet:261846"} @@ -385854,12 +385929,12 @@ subset: rare synonym: "1p deletion" RELATED [GARD:0003730] synonym: "1p monosomy" RELATED [GARD:0003730] synonym: "chromosome 1p deletion" RELATED [GARD:0003730] -synonym: "del(1p)" RELATED [NCIT:C36501] +synonym: "del(1p)" RELATED [] synonym: "deletion 1p" RELATED [GARD:0003730] -synonym: "loss of chromosome 1p" RELATED [NCIT:C36501] +synonym: "loss of chromosome 1p" RELATED [] synonym: "monosomy 1p" RELATED [GARD:0003730] synonym: "partial deletion of chromosome 1p" EXACT [Orphanet:261857] -synonym: "partial deletion of the short arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:261857] +synonym: "partial deletion of the short arm of chromosome type 1" EXACT [MONDORULE:1] synonym: "partial monosomy 1p" RELATED [GARD:0003730] synonym: "partial monosomy of chromosome 1p" EXACT [Orphanet:261857] synonym: "partial monosomy of the short arm of chromosome 1" EXACT [Orphanet:261857] @@ -385884,7 +385959,7 @@ subset: gard_rare {source="GARD:20807", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261866"} subset: rare synonym: "partial deletion of chromosome 2p" EXACT [Orphanet:261866] -synonym: "partial deletion of the short arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:261866] +synonym: "partial deletion of the short arm of chromosome type 2" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 2p" EXACT [Orphanet:261866] synonym: "partial monosomy of the short arm of chromosome 2" EXACT [Orphanet:261866] xref: GARD:20807 {source="MONDO:GARD"} @@ -385906,7 +385981,7 @@ subset: gard_rare {source="GARD:37", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261875"} subset: rare synonym: "partial deletion of chromosome 3p" EXACT [Orphanet:261875] -synonym: "partial deletion of the short arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:261875] +synonym: "partial deletion of the short arm of chromosome type 3" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 3p" EXACT [Orphanet:261875] synonym: "partial monosomy of the short arm of chromosome 3" EXACT [Orphanet:261875] xref: GARD:37 {source="MONDO:GARD"} @@ -385936,7 +386011,7 @@ subset: gard_rare {source="GARD:20809", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261893"} subset: rare synonym: "partial deletion of chromosome 5p" EXACT [Orphanet:261893] -synonym: "partial deletion of the short arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:261893] +synonym: "partial deletion of the short arm of chromosome type 5" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 5p" EXACT [Orphanet:261893] synonym: "partial monosomy of the short arm of chromosome 5" EXACT [Orphanet:261893] xref: GARD:20809 {source="MONDO:GARD"} @@ -385957,7 +386032,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:261902"} subset: rare synonym: "partial deletion of chromosome 6p" EXACT [Orphanet:261902] -synonym: "partial deletion of the short arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:261902] +synonym: "partial deletion of the short arm of chromosome type 6" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 6p" EXACT [Orphanet:261902] synonym: "partial monosomy of the short arm of chromosome 6" EXACT [Orphanet:261902] xref: GARD:20810 {source="MONDO:GARD"} @@ -385986,7 +386061,7 @@ synonym: "chromosome 7p deletion" RELATED [GARD:0001346] synonym: "deletion 7p" RELATED [GARD:0001346] synonym: "monosomy 7p" RELATED [GARD:0001346] synonym: "partial deletion of chromosome 7p" EXACT [Orphanet:261911] -synonym: "partial deletion of the short arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:261911] +synonym: "partial deletion of the short arm of chromosome type 7" EXACT [MONDORULE:1] synonym: "partial monosomy 7p" RELATED [GARD:0001346] synonym: "partial monosomy of chromosome 7p" EXACT [Orphanet:261911] synonym: "partial monosomy of the short arm of chromosome 7" EXACT [Orphanet:261911] @@ -386015,7 +386090,7 @@ synonym: "chromosome 8p deletion" RELATED [GARD:0003768] synonym: "deletion 8p" RELATED [GARD:0003768] synonym: "monosomy 8p" RELATED [GARD:0003768] synonym: "partial deletion of chromosome 8p" EXACT [Orphanet:261920] -synonym: "partial deletion of the short arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:261920] +synonym: "partial deletion of the short arm of chromosome type 8" EXACT [MONDORULE:1] synonym: "partial monosomy 8p" RELATED [GARD:0003768] synonym: "partial monosomy of chromosome 8p" EXACT [Orphanet:261920] synonym: "partial monosomy of the short arm of chromosome 8" EXACT [Orphanet:261920] @@ -386050,7 +386125,7 @@ subset: gard_rare {source="GARD:20814", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261938"} subset: rare synonym: "partial deletion of chromosome 10p" EXACT [Orphanet:261938] -synonym: "partial deletion of the short arm of chromosome type 10" EXACT [MONDORULE:2, Orphanet:261938] +synonym: "partial deletion of the short arm of chromosome type 10" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 10p" EXACT [Orphanet:261938] synonym: "partial monosomy of the short arm of chromosome 10" EXACT [Orphanet:261938] xref: GARD:20814 {source="MONDO:GARD"} @@ -386072,7 +386147,7 @@ subset: gard_rare {source="GARD:20815", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261947"} subset: rare synonym: "partial deletion of chromosome 11p" EXACT [Orphanet:261947] -synonym: "partial deletion of the short arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:261947] +synonym: "partial deletion of the short arm of chromosome type 11" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 11p" EXACT [Orphanet:261947] synonym: "partial monosomy of the short arm of chromosome 11" EXACT [Orphanet:261947] xref: GARD:20815 {source="MONDO:GARD"} @@ -386094,7 +386169,7 @@ subset: gard_rare {source="GARD:20816", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261956"} subset: rare synonym: "partial deletion of chromosome 16p" EXACT [Orphanet:261956] -synonym: "partial deletion of the short arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:261956] +synonym: "partial deletion of the short arm of chromosome type 16" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 16p" EXACT [Orphanet:261956] synonym: "partial monosomy of the short arm of chromosome 16" EXACT [Orphanet:261956] xref: GARD:20816 {source="MONDO:GARD"} @@ -386132,7 +386207,7 @@ subset: gard_rare {source="GARD:20819", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:261983"} subset: rare synonym: "partial deletion of chromosome 19p" EXACT [Orphanet:261983] -synonym: "partial deletion of the short arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:261983] +synonym: "partial deletion of the short arm of chromosome type 19" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 19p" EXACT [Orphanet:261983] synonym: "partial monosomy of the short arm of chromosome 19" EXACT [Orphanet:261983] xref: GARD:20819 {source="MONDO:GARD"} @@ -386162,7 +386237,7 @@ synonym: "partial deletion of chromosome 20p" EXACT [Orphanet:261992] synonym: "partial deletion of the short arm of chromosome 20" EXACT [Orphanet:261992] synonym: "partial monosomy 20p" RELATED [GARD:0003739] synonym: "partial monosomy of chromosome 20p" EXACT [Orphanet:261992] -synonym: "partial monosomy of the short arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:261992] +synonym: "partial monosomy of the short arm of chromosome type 20" EXACT [MONDORULE:2] synonym: "Pure partial 20p deletion" EXACT [Orphanet:261992] xref: GARD:20820 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261992", source="Orphanet:261992/attributed", source="Orphanet:261992/ntbt"} @@ -386183,7 +386258,7 @@ name: obsolete Duchenne and Becker muscular dystrophy def: "OBSOLETE. Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle." [Orphanet:262] subset: ordo_group_of_disorders {source="Orphanet:262"} subset: otar {source="MONDO:OTAR"} -synonym: "severe dystrophinopathy, Duchenne and Becker type" EXACT [Orphanet:262] +synonym: "severe dystrophinopathy, Duchenne and Becker type" EXACT [] xref: ICD10CM:G71.0 {source="Orphanet:262/inclusion", source="Orphanet:262/ntbt", source="Orphanet:262"} xref: Orphanet:262 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -386216,7 +386291,7 @@ synonym: "chromosome 2q deletion" RELATED [GARD:0003744] synonym: "deletion 2q" RELATED [GARD:0003744] synonym: "monosomy 2q" RELATED [GARD:0003744] synonym: "partial deletion of chromosome 2q" EXACT [Orphanet:262010] -synonym: "partial deletion of the long arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262010] +synonym: "partial deletion of the long arm of chromosome type 2" EXACT [MONDORULE:1] synonym: "partial monosomy 2q" RELATED [GARD:0003744] synonym: "partial monosomy of chromosome 2q" EXACT [Orphanet:262010] synonym: "partial monosomy of the long arm of chromosome 2" EXACT [Orphanet:262010] @@ -386240,7 +386315,7 @@ subset: gard_rare {source="GARD:20823", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262019"} subset: rare synonym: "partial deletion of chromosome 3q" EXACT [Orphanet:262019] -synonym: "partial deletion of the long arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262019] +synonym: "partial deletion of the long arm of chromosome type 3" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 3q" EXACT [Orphanet:262019] synonym: "partial monosomy of the long arm of chromosome 3" EXACT [Orphanet:262019] xref: GARD:20823 {source="MONDO:GARD"} @@ -386268,7 +386343,7 @@ synonym: "chromosome 4q deletion" RELATED [GARD:0001340] synonym: "deletion 4q" RELATED [GARD:0001340] synonym: "monosomy 4q" RELATED [GARD:0001340] synonym: "partial deletion of chromosome 4q" EXACT [Orphanet:262029] -synonym: "partial deletion of the long arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262029] +synonym: "partial deletion of the long arm of chromosome type 4" EXACT [MONDORULE:1] synonym: "partial monosomy 4q" RELATED [GARD:0001340] synonym: "partial monosomy of chromosome 4q" EXACT [Orphanet:262029] synonym: "partial monosomy of the long arm of chromosome 4" EXACT [Orphanet:262029] @@ -386292,7 +386367,7 @@ subset: gard_rare {source="GARD:20825", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262038"} subset: rare synonym: "partial deletion of chromosome 5q" EXACT [Orphanet:262038] -synonym: "partial deletion of the long arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262038] +synonym: "partial deletion of the long arm of chromosome type 5" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome 5q" EXACT [Orphanet:262038] synonym: "partial monosomy of the long arm of chromosome 5" EXACT [Orphanet:262038] xref: GARD:20825 {source="MONDO:GARD"} @@ -386318,7 +386393,7 @@ synonym: "chromosome 6q deletion" RELATED [GARD:0003760] synonym: "deletion 6q" RELATED [GARD:0003760] synonym: "monosomy 6q" RELATED [GARD:0003760] synonym: "partial deletion of chromosome 6q" EXACT [Orphanet:262047] -synonym: "partial deletion of the long arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262047] +synonym: "partial deletion of the long arm of chromosome type 6" EXACT [MONDORULE:1] synonym: "partial monosomy 6q" RELATED [GARD:0003760] synonym: "partial monosomy of chromosome 6q" EXACT [Orphanet:262047] synonym: "partial monosomy of the long arm of chromosome 6" EXACT [Orphanet:262047] @@ -386344,12 +386419,12 @@ subset: ordo_group_of_disorders {source="Orphanet:262056"} subset: rare synonym: "7q deletion" RELATED [GARD:0003765] synonym: "7q monosomy" RELATED [GARD:0003765] -synonym: "del(7q)" RELATED [NCIT:C36408] +synonym: "del(7q)" RELATED [] synonym: "deletion 7q" RELATED [GARD:0003765] -synonym: "loss of chromosome 7q" RELATED [NCIT:C36408] +synonym: "loss of chromosome 7q" RELATED [] synonym: "monosomy 7q" RELATED [GARD:0003765] synonym: "partial deletion of chromosome 7q" EXACT [Orphanet:262056] -synonym: "partial deletion of the long arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262056] +synonym: "partial deletion of the long arm of chromosome type 7" EXACT [MONDORULE:1] synonym: "partial monosomy 7q" RELATED [GARD:0003765] synonym: "partial monosomy of chromosome 7q" EXACT [Orphanet:262056] synonym: "partial monosomy of the long arm of chromosome 7" EXACT [Orphanet:262056] @@ -386379,7 +386454,7 @@ synonym: "chromosome 8q deletion" RELATED [GARD:0003770] synonym: "deletion 8q" RELATED [GARD:0003770] synonym: "monosomy 8q" RELATED [GARD:0003770] synonym: "partial deletion of chromosome 8q" EXACT [Orphanet:262065] -synonym: "partial deletion of the long arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262065] +synonym: "partial deletion of the long arm of chromosome type 8" EXACT [MONDORULE:1] synonym: "partial monosomy 8q" RELATED [GARD:0003770] synonym: "partial monosomy of chromosome 8q" EXACT [Orphanet:262065] synonym: "partial monosomy of the long arm of chromosome 8" EXACT [Orphanet:262065] @@ -386405,7 +386480,7 @@ subset: rare synonym: "partial deletion of chromosome 9q" EXACT [Orphanet:262074] synonym: "partial deletion of the long arm of chromosome 9" EXACT [Orphanet:262074] synonym: "partial monosomy of chromosome 9q" EXACT [Orphanet:262074] -synonym: "partial monosomy of the long arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262074] +synonym: "partial monosomy of the long arm of chromosome type 9" EXACT [MONDORULE:1] xref: GARD:20829 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:262074", source="Orphanet:262074/attributed", source="Orphanet:262074/ntbt"} xref: icd11.foundation:1051626600 {source="Orphanet:262074", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -386427,7 +386502,7 @@ subset: rare synonym: "partial deletion of chromosome 10q" EXACT [Orphanet:262083] synonym: "partial deletion of the long arm of chromosome 10" EXACT [Orphanet:262083] synonym: "partial monosomy of chromosome 10q" EXACT [Orphanet:262083] -synonym: "partial monosomy of the long arm of chromosome type 10" EXACT [MONDORULE:2, Orphanet:262083] +synonym: "partial monosomy of the long arm of chromosome type 10" EXACT [MONDORULE:2] xref: GARD:20830 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:262083/attributed", source="Orphanet:262083/ntbt", source="Orphanet:262083"} xref: icd11.foundation:376045936 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:262083"} @@ -386451,14 +386526,14 @@ synonym: "11q deletion" RELATED [GARD:0001735] synonym: "11q monosomy" RELATED [GARD:0001735] synonym: "chromosome 11q deletion" RELATED [GARD:0001735] synonym: "chromosome 11q partial deletion" RELATED [GTR:AN0100478] -synonym: "del(11q)" RELATED [NCIT:C37312] +synonym: "del(11q)" RELATED [] synonym: "deletion 11q" RELATED [GARD:0001735] synonym: "Deletion 11q partial" RELATED [GTR:AN0100479] -synonym: "loss of chromosome 11q" RELATED [NCIT:C37312] +synonym: "loss of chromosome 11q" RELATED [] synonym: "monosomy 11q" RELATED [GARD:0001735] synonym: "monosomy 11q partial" RELATED [GTR:AN0100480] synonym: "partial deletion of chromosome 11q" EXACT [Orphanet:262092] -synonym: "partial deletion of the long arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262092] +synonym: "partial deletion of the long arm of chromosome type 11" EXACT [MONDORULE:2] synonym: "partial monosomy 11q" RELATED [GARD:0001735] synonym: "partial monosomy of chromosome 11q" EXACT [Orphanet:262092] synonym: "partial monosomy of the long arm of chromosome 11" EXACT [Orphanet:262092] @@ -386489,12 +386564,12 @@ subset: rare synonym: "13q deletion" RELATED [GARD:0001738] synonym: "13q monosomy" RELATED [GARD:0001738] synonym: "chromosome 13q deletion" RELATED [GARD:0001738] -synonym: "del(13q)" RELATED [NCIT:C36497] +synonym: "del(13q)" RELATED [] synonym: "deletion 13q" RELATED [GARD:0001738] -synonym: "loss of chromosome 13q" RELATED [NCIT:C36497] +synonym: "loss of chromosome 13q" RELATED [] synonym: "monosomy 13q" RELATED [GARD:0001738] synonym: "partial deletion of chromosome 13q" EXACT [Orphanet:262101] -synonym: "partial deletion of the long arm of chromosome type 13" EXACT [MONDORULE:2, Orphanet:262101] +synonym: "partial deletion of the long arm of chromosome type 13" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 13q" EXACT [Orphanet:262101] synonym: "partial monosomy of the long arm of chromosome 13" EXACT [Orphanet:262101] xref: GARD:20832 {source="MONDO:GARD"} @@ -386522,7 +386597,7 @@ synonym: "chromosome 14q deletion" RELATED [GARD:0003722] synonym: "deletion 14q" RELATED [GARD:0003722] synonym: "monosomy 14q" RELATED [GARD:0003722] synonym: "partial deletion of chromosome 14q" EXACT [Orphanet:262110] -synonym: "partial deletion of the long arm of chromosome type 14" EXACT [MONDORULE:2, Orphanet:262110] +synonym: "partial deletion of the long arm of chromosome type 14" EXACT [MONDORULE:2] synonym: "partial monosomy 14q" RELATED [GARD:0003722] synonym: "partial monosomy of chromosome 14q" EXACT [Orphanet:262110] synonym: "partial monosomy of the long arm of chromosome 14" EXACT [Orphanet:262110] @@ -386548,7 +386623,7 @@ synonym: "chromosome 15q deletion" RELATED [GARD:0001746] synonym: "deletion 15q" RELATED [GARD:0001746] synonym: "monosomy 15q" RELATED [GARD:0001746] synonym: "partial deletion of chromosome 15q" EXACT [Orphanet:262119] -synonym: "partial deletion of the long arm of chromosome type 15" EXACT [MONDORULE:2, Orphanet:262119] +synonym: "partial deletion of the long arm of chromosome type 15" EXACT [MONDORULE:2] synonym: "partial monosomy 15q" RELATED [GARD:0001746] synonym: "partial monosomy of chromosome 15q" EXACT [Orphanet:262119] synonym: "partial monosomy of the long arm of chromosome 15" EXACT [Orphanet:262119] @@ -386570,7 +386645,7 @@ subset: gard_rare {source="GARD:20835", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262128"} subset: rare synonym: "partial deletion of chromosome 16q" EXACT [Orphanet:262128] -synonym: "partial deletion of the long arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262128] +synonym: "partial deletion of the long arm of chromosome type 16" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 16q" EXACT [Orphanet:262128] synonym: "partial monosomy of the long arm of chromosome 16" EXACT [Orphanet:262128] xref: GARD:20835 {source="MONDO:GARD"} @@ -386592,7 +386667,7 @@ subset: gard_rare {source="GARD:20836", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262137"} subset: rare synonym: "partial deletion of chromosome 17q" EXACT [Orphanet:262137] -synonym: "partial deletion of the long arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262137] +synonym: "partial deletion of the long arm of chromosome type 17" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 17q" EXACT [Orphanet:262137] synonym: "partial monosomy of the long arm of chromosome 17" EXACT [Orphanet:262137] xref: GARD:20836 {source="MONDO:GARD"} @@ -386622,7 +386697,7 @@ subset: gard_rare {source="GARD:20838", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262155"} subset: rare synonym: "partial deletion of chromosome 19q" EXACT [Orphanet:262155] -synonym: "partial deletion of the long arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262155] +synonym: "partial deletion of the long arm of chromosome type 19" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 19q" EXACT [Orphanet:262155] synonym: "partial monosomy of the long arm of chromosome 19" EXACT [Orphanet:262155] xref: GARD:20838 {source="MONDO:GARD"} @@ -386644,7 +386719,7 @@ subset: gard_rare {source="GARD:20839", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262164"} subset: rare synonym: "partial deletion of chromosome 20q" EXACT [Orphanet:262164] -synonym: "partial deletion of the long arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262164] +synonym: "partial deletion of the long arm of chromosome type 20" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 20q" EXACT [Orphanet:262164] synonym: "partial monosomy of the long arm of chromosome 20" EXACT [Orphanet:262164] xref: GARD:20839 {source="MONDO:GARD"} @@ -386666,7 +386741,7 @@ subset: gard_rare {source="GARD:20840", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262173"} subset: rare synonym: "partial deletion of chromosome 21q" EXACT [Orphanet:262173] -synonym: "partial deletion of the long arm of chromosome type 21" EXACT [MONDORULE:2, Orphanet:262173] +synonym: "partial deletion of the long arm of chromosome type 21" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 21q" EXACT [Orphanet:262173] synonym: "partial monosomy of the long arm of chromosome 21" EXACT [Orphanet:262173] xref: GARD:20840 {source="MONDO:GARD"} @@ -386692,7 +386767,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20842", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262191"} subset: rare -synonym: "partial duplication of chromosome type 1" EXACT [MONDORULE:1, Orphanet:262191] +synonym: "partial duplication of chromosome type 1" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome 1" EXACT [Orphanet:262191] xref: GARD:20842 {source="MONDO:GARD"} xref: MEDGEN:1379629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -386710,7 +386785,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20843", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262196"} subset: rare -synonym: "partial duplication of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262196] +synonym: "partial duplication of chromosome type 2" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome 2" EXACT [Orphanet:262196] xref: GARD:20843 {source="MONDO:GARD"} xref: MEDGEN:1372476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -386728,7 +386803,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20844", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262201"} subset: rare -synonym: "partial duplication of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262201] +synonym: "partial duplication of chromosome type 3" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome 3" EXACT [Orphanet:262201] xref: GARD:20844 {source="MONDO:GARD"} xref: MEDGEN:1372547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -386746,7 +386821,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20845", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262206"} subset: rare -synonym: "partial duplication of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262206] +synonym: "partial duplication of chromosome type 4" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome 4" EXACT [Orphanet:262206] xref: GARD:20845 {source="MONDO:GARD"} xref: MEDGEN:1392317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -386765,7 +386840,7 @@ subset: gard_rare {source="GARD:20846", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262211"} subset: rare synonym: "partial duplication/triplication of chromosome 5" EXACT [Orphanet:262211] -synonym: "partial trisomy/tetrasomy of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262211] +synonym: "partial trisomy/tetrasomy of chromosome type 5" EXACT [MONDORULE:1] xref: GARD:20846 {source="MONDO:GARD"} xref: MEDGEN:1841547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:262211 {source="MONDO:equivalentTo"} @@ -386786,7 +386861,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20847", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262628"} subset: rare -synonym: "partial duplication of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262628] +synonym: "partial duplication of chromosome type 6" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome 6" EXACT [Orphanet:262628] xref: GARD:20847 {source="MONDO:GARD"} xref: MEDGEN:1379251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -386804,7 +386879,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20848", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262633"} subset: rare -synonym: "partial duplication of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262633] +synonym: "partial duplication of chromosome type 7" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome 7" EXACT [Orphanet:262633] xref: GARD:20848 {source="MONDO:GARD"} xref: MEDGEN:1383136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -386823,7 +386898,7 @@ subset: gard_rare {source="GARD:20849", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:262638"} subset: rare -synonym: "partial duplication of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262638] +synonym: "partial duplication of chromosome type 8" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome 8" EXACT [Orphanet:262638] xref: GARD:20849 {source="MONDO:GARD"} xref: MEDGEN:419136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -386844,7 +386919,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:262643"} subset: rare synonym: "partial duplication/triplication of chromosome 9" EXACT [Orphanet:262643] -synonym: "partial trisomy/tetrasomy of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262643] +synonym: "partial trisomy/tetrasomy of chromosome type 9" EXACT [MONDORULE:1] xref: GARD:20850 {source="MONDO:GARD"} xref: MEDGEN:1841529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:262643 {source="MONDO:equivalentTo"} @@ -386876,7 +386951,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20852", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262653"} subset: rare -synonym: "partial duplication of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262653] +synonym: "partial duplication of chromosome type 11" EXACT [MONDORULE:2] synonym: "partial trisomy of chromosome 11" EXACT [Orphanet:262653] xref: GARD:20852 {source="MONDO:GARD"} xref: MEDGEN:1386777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -386897,7 +386972,7 @@ subset: rare synonym: "partial duplication/triplication of chromosome 12p" EXACT [Orphanet:262658] synonym: "partial duplication/triplication of the short arm of chromosome 12" EXACT [Orphanet:262658] synonym: "partial trisomy/tetrasomy of chromosome 12p" EXACT [Orphanet:262658] -synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:262658] +synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 12" EXACT [MONDORULE:2] xref: GARD:20853 {source="MONDO:GARD"} xref: MEDGEN:1826045 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:262658 {source="MONDO:equivalentTo"} @@ -386911,7 +386986,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20854", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262672"} subset: rare -synonym: "partial duplication of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262672] +synonym: "partial duplication of chromosome type 16" EXACT [MONDORULE:2] synonym: "partial trisomy of chromosome 16" EXACT [Orphanet:262672] xref: GARD:20854 {source="MONDO:GARD"} xref: MEDGEN:1379206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -386929,7 +387004,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20855", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262677"} subset: rare -synonym: "partial duplication of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262677] +synonym: "partial duplication of chromosome type 17" EXACT [MONDORULE:2] synonym: "partial trisomy of chromosome 17" EXACT [Orphanet:262677] xref: GARD:20855 {source="MONDO:GARD"} xref: MEDGEN:1387434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -386949,7 +387024,7 @@ subset: gard_rare {source="GARD:20856", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262682"} subset: rare synonym: "partial duplication/triplication of chromosome 18" EXACT [Orphanet:262682] -synonym: "partial trisomy/tetrasomy of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262682] +synonym: "partial trisomy/tetrasomy of chromosome type 18" EXACT [MONDORULE:2] xref: GARD:20856 {source="MONDO:GARD"} xref: MEDGEN:1841544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:262682 {source="MONDO:equivalentTo"} @@ -386964,7 +387039,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20857", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262687"} subset: rare -synonym: "partial duplication of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262687] +synonym: "partial duplication of chromosome type 19" EXACT [MONDORULE:2] synonym: "partial trisomy of chromosome 19" EXACT [Orphanet:262687] xref: GARD:20857 {source="MONDO:GARD"} xref: MEDGEN:1379548 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -386983,7 +387058,7 @@ subset: gard_rare {source="GARD:20858", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262692"} subset: rare synonym: "partial duplication of chromosome 20" EXACT [Orphanet:262692] -synonym: "partial trisomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262692] +synonym: "partial trisomy of chromosome type 20" EXACT [MONDORULE:2] xref: GARD:20858 {source="MONDO:GARD"} xref: MEDGEN:1377617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:262692 {source="MONDO:equivalentTo"} @@ -387006,7 +387081,7 @@ synonym: "2p trisomy" RELATED [GARD:0005337] synonym: "chromosome 2p duplication" RELATED [GARD:0005337] synonym: "Duplication 2p" RELATED [GARD:0005337] synonym: "partial duplication of chromosome 2p" EXACT [Orphanet:262698] -synonym: "partial duplication of the short arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262698] +synonym: "partial duplication of the short arm of chromosome type 2" EXACT [MONDORULE:1] synonym: "partial trisomy 2p" RELATED [GARD:0005337] synonym: "partial trisomy of chromosome 2p" EXACT [Orphanet:262698] synonym: "trisomy 2p" RELATED [GARD:0005337] @@ -387034,7 +387109,7 @@ synonym: "3p trisomy" RELATED [GARD:0005343] synonym: "chromosome 3p duplication" RELATED [GARD:0005343] synonym: "Duplication 3p" RELATED [GARD:0005343] synonym: "partial duplication of chromosome 3p" EXACT [Orphanet:262707] -synonym: "partial duplication of the short arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262707] +synonym: "partial duplication of the short arm of chromosome type 3" EXACT [MONDORULE:1] synonym: "partial trisomy 3p" RELATED [GARD:0005343] synonym: "partial trisomy of chromosome 3p" EXACT [Orphanet:262707] synonym: "partial trisomy of the short arm of chromosome 3" EXACT [Orphanet:262707] @@ -387058,7 +387133,7 @@ subset: gard_rare {source="GARD:20861", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262716"} subset: rare synonym: "partial duplication of chromosome 4p" EXACT [Orphanet:262716] -synonym: "partial duplication of the short arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262716] +synonym: "partial duplication of the short arm of chromosome type 4" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome 4p" EXACT [Orphanet:262716] synonym: "partial trisomy of the short arm of chromosome 4" EXACT [Orphanet:262716] xref: GARD:20861 {source="MONDO:GARD"} @@ -387081,7 +387156,7 @@ subset: rare synonym: "partial duplication/triplication of chromosome 5p" EXACT [Orphanet:262725] synonym: "partial duplication/triplication of the short arm of chromosome 5" EXACT [Orphanet:262725] synonym: "partial trisomy/tetrasomy of chromosome 5p" EXACT [Orphanet:262725] -synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262725] +synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 5" EXACT [MONDORULE:1] xref: GARD:20862 {source="MONDO:GARD"} xref: MEDGEN:1826044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:262725 {source="MONDO:equivalentTo"} @@ -387102,7 +387177,7 @@ synonym: "6p trisomy" RELATED [GARD:0005352] synonym: "chromosome 6p duplication" RELATED [GARD:0005352] synonym: "Duplication 6p" RELATED [GARD:0005352] synonym: "partial duplication of chromosome 6p" EXACT [Orphanet:262740] -synonym: "partial duplication of the short arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262740] +synonym: "partial duplication of the short arm of chromosome type 6" EXACT [MONDORULE:1] synonym: "partial trisomy 6p" RELATED [GARD:0005352] synonym: "partial trisomy of chromosome 6p" EXACT [Orphanet:262740] synonym: "partial trisomy of the short arm of chromosome 6" EXACT [Orphanet:262740] @@ -387131,7 +387206,7 @@ synonym: "7p trisomy" RELATED [GARD:0005355] synonym: "chromosome 7p duplication" RELATED [GARD:0005355] synonym: "Duplication 7p" RELATED [GARD:0005355] synonym: "partial duplication of chromosome 7p" EXACT [Orphanet:262749] -synonym: "partial duplication of the short arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262749] +synonym: "partial duplication of the short arm of chromosome type 7" EXACT [MONDORULE:1] synonym: "partial trisomy 7p" RELATED [GARD:0005355] synonym: "partial trisomy of chromosome 7p" EXACT [Orphanet:262749] synonym: "partial trisomy of the short arm of chromosome 7" EXACT [Orphanet:262749] @@ -387160,7 +387235,7 @@ synonym: "8p trisomy" RELATED [GARD:0005361] synonym: "chromosome 8p duplication" RELATED [GARD:0005361] synonym: "Duplication 8p" RELATED [GARD:0005361] synonym: "partial duplication of chromosome 8p" EXACT [Orphanet:262758] -synonym: "partial duplication of the short arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262758] +synonym: "partial duplication of the short arm of chromosome type 8" EXACT [MONDORULE:1] synonym: "partial trisomy 8p" RELATED [GARD:0005361] synonym: "partial trisomy of chromosome 8p" EXACT [Orphanet:262758] synonym: "partial trisomy of the short arm of chromosome 8" EXACT [Orphanet:262758] @@ -387211,7 +387286,7 @@ subset: gard_rare {source="GARD:20868", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262785"} subset: rare synonym: "partial duplication of chromosome 11p" EXACT [Orphanet:262785] -synonym: "partial duplication of the short arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262785] +synonym: "partial duplication of the short arm of chromosome type 11" EXACT [MONDORULE:2] synonym: "partial trisomy of chromosome 11p" EXACT [Orphanet:262785] synonym: "partial trisomy of the short arm of chromosome 11" EXACT [Orphanet:262785] xref: GARD:20868 {source="MONDO:GARD"} @@ -387236,7 +387311,7 @@ synonym: "16p trisomy" RELATED [GARD:0005315] synonym: "chromosome 16p duplication" RELATED [GARD:0005315] synonym: "Duplication 16p" RELATED [GARD:0005315] synonym: "partial duplication of chromosome 16p" EXACT [Orphanet:262794] -synonym: "partial duplication of the short arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262794] +synonym: "partial duplication of the short arm of chromosome type 16" EXACT [MONDORULE:2] synonym: "partial trisomy 16p" RELATED [GARD:0005315] synonym: "partial trisomy of chromosome 16p" EXACT [Orphanet:262794] synonym: "partial trisomy of the short arm of chromosome 16" EXACT [Orphanet:262794] @@ -387259,7 +387334,7 @@ subset: gard_rare {source="GARD:20870", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262803"} subset: rare synonym: "partial duplication of chromosome 17p" EXACT [Orphanet:262803] -synonym: "partial duplication of the short arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262803] +synonym: "partial duplication of the short arm of chromosome type 17" EXACT [MONDORULE:2] synonym: "partial trisomy of chromosome 17p" EXACT [Orphanet:262803] synonym: "partial trisomy of the short arm of chromosome 17" EXACT [Orphanet:262803] xref: GARD:20870 {source="MONDO:GARD"} @@ -387282,7 +387357,7 @@ subset: rare synonym: "partial duplication/triplication of chromosome 18p" EXACT [Orphanet:262812] synonym: "partial duplication/triplication of the short arm of chromosome 18" EXACT [Orphanet:262812] synonym: "partial trisomy/tetrasomy of chromosome 18p" EXACT [Orphanet:262812] -synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262812] +synonym: "partial trisomy/tetrasomy of the short arm of chromosome type 18" EXACT [MONDORULE:2] xref: GARD:20871 {source="MONDO:GARD"} xref: MEDGEN:1826040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:262812 {source="MONDO:equivalentTo"} @@ -387299,7 +387374,7 @@ subset: ordo_group_of_disorders {source="Orphanet:262833"} subset: rare synonym: "1q duplications" RELATED [GARD:0010831] synonym: "partial duplication of chromosome 1q" EXACT [Orphanet:262833] -synonym: "partial duplication of the long arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:262833] +synonym: "partial duplication of the long arm of chromosome type 1" EXACT [MONDORULE:1] synonym: "partial trisomy 1q" RELATED [GARD:0010831] synonym: "partial trisomy of chromosome 1q" EXACT [Orphanet:262833] synonym: "partial trisomy of the long arm of chromosome 1" EXACT [Orphanet:262833] @@ -387328,7 +387403,7 @@ synonym: "2q trisomy" RELATED [GARD:0005340] synonym: "chromosome 2q duplication" RELATED [GARD:0005340] synonym: "Duplication 2q" RELATED [GARD:0005340] synonym: "partial duplication of chromosome 2q" EXACT [Orphanet:262842] -synonym: "partial duplication of the long arm of chromosome type 2" EXACT [MONDORULE:1, Orphanet:262842] +synonym: "partial duplication of the long arm of chromosome type 2" EXACT [MONDORULE:1] synonym: "partial trisomy 2q" RELATED [GARD:0005340] synonym: "partial trisomy of chromosome 2q" EXACT [Orphanet:262842] synonym: "partial trisomy of the long arm of chromosome 2" EXACT [Orphanet:262842] @@ -387356,7 +387431,7 @@ synonym: "chromosome 3, trisomy 3q" RELATED [GARD:0005345] synonym: "chromosome 3q duplication" RELATED [GARD:0005345] synonym: "Duplication 3q" RELATED [GARD:0005345] synonym: "partial duplication of chromosome 3q" EXACT [Orphanet:262851] -synonym: "partial duplication of the long arm of chromosome type 3" EXACT [MONDORULE:1, Orphanet:262851] +synonym: "partial duplication of the long arm of chromosome type 3" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome 3q" EXACT [Orphanet:262851] synonym: "trisomy 3q" RELATED [GARD:0005345] xref: GARD:5345 {source="MONDO:GARD"} @@ -387387,10 +387462,10 @@ synonym: "dup(4q) syndrome, partial" EXACT [DOID:0111159] synonym: "Duplication 4q" RELATED [GARD:0005347] synonym: "Duplication 4q syndrome, partial" EXACT [DOID:0111159] synonym: "partial duplication of chromosome 4q" EXACT [Orphanet:262860] -synonym: "partial duplication of the long arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:262860] +synonym: "partial duplication of the long arm of chromosome type 4" EXACT [MONDORULE:1] synonym: "partial trisomy 4q" RELATED [GARD:0005347] synonym: "partial trisomy 4q syndrome" EXACT [DOID:0111159] -synonym: "partial trisomy distal 4q" RELATED [DOID:0111159] +synonym: "partial trisomy distal 4q" RELATED [] synonym: "partial trisomy of chromosome 4q" EXACT [Orphanet:262860] synonym: "partial trisomy of the long arm of chromosome 4" EXACT [Orphanet:262860] synonym: "trisomy 4q" RELATED [GARD:0005347] @@ -387424,7 +387499,7 @@ synonym: "partial duplication of chromosome 5q" EXACT [Orphanet:262869] synonym: "partial duplication of the long arm of chromosome 5" EXACT [Orphanet:262869] synonym: "partial trisomy 5q" RELATED [GARD:0005351] synonym: "partial trisomy of chromosome 5q" EXACT [Orphanet:262869] -synonym: "partial trisomy of the long arm of chromosome type 5" EXACT [MONDORULE:1, Orphanet:262869] +synonym: "partial trisomy of the long arm of chromosome type 5" EXACT [MONDORULE:1] synonym: "trisomy 5q" RELATED [GARD:0005351] xref: GARD:5351 {source="MONDO:GARD"} xref: icd11.foundation:722703441 {source="MONDO:equivalentTo", source="Orphanet:262869", source="https://orcid.org/0000-0002-4142-7153"} @@ -387450,7 +387525,7 @@ synonym: "6q trisomy" RELATED [GARD:0005353] synonym: "chromosome 6q duplication" RELATED [GARD:0005353] synonym: "Duplication 6q" RELATED [GARD:0005353] synonym: "partial duplication of chromosome 6q" EXACT [Orphanet:262878] -synonym: "partial duplication of the long arm of chromosome type 6" EXACT [MONDORULE:1, Orphanet:262878] +synonym: "partial duplication of the long arm of chromosome type 6" EXACT [MONDORULE:1] synonym: "partial trisomy 6q" RELATED [GARD:0005353] synonym: "partial trisomy of chromosome 6q" EXACT [Orphanet:262878] synonym: "partial trisomy of the long arm of chromosome 6" EXACT [Orphanet:262878] @@ -387479,7 +387554,7 @@ synonym: "7q trisomy" RELATED [GARD:0005357] synonym: "chromosome 7q duplication" RELATED [GARD:0005357] synonym: "Duplication 7q" RELATED [GARD:0005357] synonym: "partial duplication of chromosome 7q" EXACT [Orphanet:262887] -synonym: "partial duplication of the long arm of chromosome type 7" EXACT [MONDORULE:1, Orphanet:262887] +synonym: "partial duplication of the long arm of chromosome type 7" EXACT [MONDORULE:1] synonym: "partial trisomy 7q" RELATED [GARD:0005357] synonym: "partial trisomy of chromosome 7q" EXACT [Orphanet:262887] synonym: "partial trisomy of the long arm of chromosome 7" EXACT [Orphanet:262887] @@ -387503,7 +387578,7 @@ subset: gard_rare {source="GARD:20879", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:262896"} subset: rare synonym: "partial duplication of chromosome 8q" EXACT [Orphanet:262896] -synonym: "partial duplication of the long arm of chromosome type 8" EXACT [MONDORULE:1, Orphanet:262896] +synonym: "partial duplication of the long arm of chromosome type 8" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome 8q" EXACT [Orphanet:262896] synonym: "partial trisomy of the long arm of chromosome 8" EXACT [Orphanet:262896] xref: GARD:20879 {source="MONDO:GARD"} @@ -387526,7 +387601,7 @@ subset: rare synonym: "partial duplication of chromosome 9q" EXACT [Orphanet:262905] synonym: "partial duplication of the long arm of chromosome 9" EXACT [Orphanet:262905] synonym: "partial trisomy of chromosome 9q" EXACT [Orphanet:262905] -synonym: "partial trisomy of the long arm of chromosome type 9" EXACT [MONDORULE:1, Orphanet:262905] +synonym: "partial trisomy of the long arm of chromosome type 9" EXACT [MONDORULE:1] xref: GARD:20880 {source="MONDO:GARD"} xref: MEDGEN:1826034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:262905 {source="MONDO:equivalentTo"} @@ -387585,7 +387660,7 @@ synonym: "14q trisomy" RELATED [GARD:0005311] synonym: "chromosome 14q duplication" RELATED [GARD:0005311] synonym: "Duplication 14q" RELATED [GARD:0005311] synonym: "partial duplication of chromosome 14q" EXACT [Orphanet:262941] -synonym: "partial duplication of the long arm of chromosome type 14" EXACT [MONDORULE:2, Orphanet:262941] +synonym: "partial duplication of the long arm of chromosome type 14" EXACT [MONDORULE:2] synonym: "partial trisomy 14q" RELATED [GARD:0005311] synonym: "partial trisomy of chromosome 14q" EXACT [Orphanet:262941] synonym: "partial trisomy of the long arm of chromosome 14" EXACT [Orphanet:262941] @@ -387612,7 +387687,7 @@ synonym: "15q trisomy" RELATED [GARD:0005314] synonym: "chromosome 15q duplication" RELATED [GARD:0005314] synonym: "Duplication 15q" RELATED [GARD:0005314] synonym: "partial duplication of chromosome 15q" EXACT [Orphanet:262950] -synonym: "partial duplication of the long arm of chromosome type 15" EXACT [MONDORULE:2, Orphanet:262950] +synonym: "partial duplication of the long arm of chromosome type 15" EXACT [MONDORULE:2] synonym: "partial trisomy 15q" RELATED [GARD:0005314] synonym: "partial trisomy of chromosome 15q" EXACT [Orphanet:262950] synonym: "partial trisomy of the long arm of chromosome 15" EXACT [Orphanet:262950] @@ -387641,7 +387716,7 @@ synonym: "partial duplication of chromosome 16q" EXACT [Orphanet:262959] synonym: "partial duplication of the long arm of chromosome 16" EXACT [Orphanet:262959] synonym: "partial trisomy 16q" RELATED [GARD:0005316] synonym: "partial trisomy of chromosome 16q" EXACT [Orphanet:262959] -synonym: "partial trisomy of the long arm of chromosome type 16" EXACT [MONDORULE:2, Orphanet:262959] +synonym: "partial trisomy of the long arm of chromosome type 16" EXACT [MONDORULE:2] synonym: "trisomy 16q" RELATED [GARD:0005316] xref: GARD:20886 {source="MONDO:GARD"} xref: icd11.foundation:126160943 {source="Orphanet:262959", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -387666,7 +387741,7 @@ synonym: "17q trisomy" RELATED [GARD:0005320] synonym: "chromosome 17q duplication" RELATED [GARD:0005320] synonym: "Duplication 17q" RELATED [GARD:0005320] synonym: "partial duplication of chromosome 17q" EXACT [Orphanet:262968] -synonym: "partial duplication of the long arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:262968] +synonym: "partial duplication of the long arm of chromosome type 17" EXACT [MONDORULE:2] synonym: "partial trisomy 17q" RELATED [GARD:0005320] synonym: "partial trisomy of chromosome 17q" EXACT [Orphanet:262968] synonym: "partial trisomy of the long arm of chromosome 17" EXACT [Orphanet:262968] @@ -387696,7 +387771,7 @@ synonym: "Duplication 18q" RELATED [GARD:0005324] synonym: "partial duplication of chromosome 18q" EXACT [Orphanet:262977] synonym: "partial duplication of the long arm of chromosome 18" EXACT [Orphanet:262977] synonym: "partial trisomy of chromosome 18q" EXACT [Orphanet:262977] -synonym: "partial trisomy of the long arm of chromosome type 18" EXACT [MONDORULE:2, Orphanet:262977] +synonym: "partial trisomy of the long arm of chromosome type 18" EXACT [MONDORULE:2] synonym: "trisomy 18q" RELATED [GARD:0005324] xref: GARD:20888 {source="MONDO:GARD"} xref: MEDGEN:167200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -387720,7 +387795,7 @@ synonym: "19q trisomy" RELATED [GARD:0005326] synonym: "chromosome 19q duplication" RELATED [GARD:0005326] synonym: "Duplication 19q" RELATED [GARD:0005326] synonym: "partial duplication of chromosome 19q" EXACT [Orphanet:262986] -synonym: "partial duplication of the long arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:262986] +synonym: "partial duplication of the long arm of chromosome type 19" EXACT [MONDORULE:2] synonym: "partial trisomy 19q" RELATED [GARD:0005326] synonym: "partial trisomy of chromosome 19q" EXACT [Orphanet:262986] synonym: "partial trisomy of the long arm of chromosome 19" EXACT [Orphanet:262986] @@ -387746,7 +387821,7 @@ subset: rare synonym: "partial duplication of chromosome 20q" EXACT [Orphanet:262995] synonym: "partial duplication of the long arm of chromosome 20" EXACT [Orphanet:262995] synonym: "partial trisomy of chromosome 20q" EXACT [Orphanet:262995] -synonym: "partial trisomy of the long arm of chromosome type 20" EXACT [MONDORULE:2, Orphanet:262995] +synonym: "partial trisomy of the long arm of chromosome type 20" EXACT [MONDORULE:2] xref: GARD:20890 {source="MONDO:GARD"} xref: icd11.foundation:1196484734 {source="MONDO:equivalentTo", source="Orphanet:262995", source="https://orcid.org/0000-0002-4142-7153"} xref: MEDGEN:1826031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -387769,10 +387844,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "erb's muscular dystrophy" EXACT [DOID:11724] synonym: "Leyden-Mbius muscular dystrophy" EXACT [DOID:11724] -synonym: "Leyden-Mobius muscular dystrophy" EXACT [DOID:11724] +synonym: "Leyden-Mobius muscular dystrophy" EXACT [] synonym: "LGMD" EXACT ABBREVIATION [Orphanet:263] synonym: "limb girdle muscular dystrophy" EXACT [DOID:11724] -synonym: "limb-girdle muscular dystrophy" EXACT CLINGEN_LABEL [] +synonym: "limb-girdle muscular dystrophy" EXACT CLINGEN_LABEL [DOID:11724, icd11.foundation:887807212, NCIT:C84828, Orphanet:263] xref: DOID:11724 {source="MONDO:equivalentTo"} xref: GARD:6907 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="DOID:11724", source="Orphanet:263/inclusion", source="Orphanet:263", source="Orphanet:263/ntbt"} @@ -387800,7 +387875,7 @@ subset: gard_rare {source="GARD:20891", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:263004"} subset: rare synonym: "partial duplication of chromosome 22q" EXACT [Orphanet:263004] -synonym: "partial duplication of the long arm of chromosome type 22" EXACT [MONDORULE:2, Orphanet:263004] +synonym: "partial duplication of the long arm of chromosome type 22" EXACT [MONDORULE:2] synonym: "partial trisomy of chromosome 22q" EXACT [Orphanet:263004] synonym: "partial trisomy of the long arm of chromosome 22" EXACT [Orphanet:263004] xref: GARD:20891 {source="MONDO:GARD"} @@ -387827,15 +387902,15 @@ subset: ordo_histopathological_subtype {source="Orphanet:263317"} subset: ordo_subtype_of_a_disorder {source="Orphanet:263317"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Dendritic cell thymoma" EXACT [NCIT:C7114] -synonym: "dendritic cell thymoma" EXACT [MONDO:0002591] +synonym: "Dendritic cell thymoma" EXACT [DOID:3282, NCIT:C7114] +synonym: "dendritic cell thymoma" EXACT [DOID:3282, MONDO:0002591, NCIT:C7114] synonym: "dendritic cell thymoma (disease)" EXACT [MONDO:patterns/location] synonym: "epithelioid thymoma" EXACT [DOID:3282, NCIT:C7114] synonym: "plump cell thymoma" EXACT [NCIT:C7114] synonym: "primary thymic epithelial neoplasm type B" EXACT [Orphanet:263317] synonym: "primary thymic epithelial tumor type B" EXACT [Orphanet:263317] synonym: "primary thymic epithelial tumour type B" EXACT OMO:0003005 [] -synonym: "thymoma type B" EXACT [NCIT:C7114] +synonym: "thymoma type B" EXACT [DOID:3282, NCIT:C7114, Orphanet:263317] xref: DOID:3282 {source="MONDO:equivalentTo"} xref: GARD:20893 {source="MONDO:GARD"} xref: ICD10CM:C37 {source="Orphanet:263317/ntbt", source="Orphanet:263317"} @@ -387859,11 +387934,11 @@ subset: ordo_histopathological_subtype {source="Orphanet:263324"} subset: ordo_subtype_of_a_disorder {source="Orphanet:263324"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mixed type thymoma" EXACT [NCIT:C6885] +synonym: "mixed type thymoma" EXACT [DOID:3280, NCIT:C6885] synonym: "primary thymic epithelial neoplasm type AB" EXACT [Orphanet:263324] synonym: "primary thymic epithelial tumor type AB" EXACT [Orphanet:263324] synonym: "primary thymic epithelial tumour type AB" EXACT OMO:0003005 [] -synonym: "thymoma type AB" EXACT [MONDO:0002589, NCIT:C6885] +synonym: "thymoma type AB" EXACT [MONDO:0002589, NCIT:C6885, Orphanet:263324] synonym: "thymoma, mixed type" EXACT [DOID:3280] xref: DOID:3280 {source="MONDO:equivalentTo"} xref: EFO:1000582 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -387970,7 +388045,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:263410"} subset: orphanet_rare {source="Orphanet:263410"} subset: rare -synonym: "infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome" RELATED [Orphanet:263410] +synonym: "infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome" RELATED [] xref: GARD:20899 {source="MONDO:GARD"} xref: MEDGEN:1675231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:263410 {source="MONDO:equivalentTo"} @@ -387990,7 +388065,7 @@ subset: ordo_disorder {source="Orphanet:263413"} subset: orphanet_rare {source="Orphanet:263413"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "angiosarcoma" EXACT [MONDO:ambiguous, NCIT:C3088] +synonym: "angiosarcoma" EXACT [DOID:0001816, MONDO:ambiguous, NCIT:C3088, Orphanet:263413] synonym: "angiosarcoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "blood vessel sarcoma" EXACT [] synonym: "hemangiosarcoma" EXACT [DOID:0001816, NCIT:C3088] @@ -388032,8 +388107,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bartter syndrome type 5" EXACT [Orphanet:263417] -synonym: "Bartter syndrome type V" EXACT [Orphanet:263417] +synonym: "Bartter syndrome type 5" EXACT [] +synonym: "Bartter syndrome type V" EXACT [] xref: ICD10CM:E26.8 {source="Orphanet:263417/attributed", source="Orphanet:263417/ntbt", source="Orphanet:263417"} xref: MEDGEN:811594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:263417 {source="MONDO:equivalentObsolete"} @@ -388077,7 +388152,7 @@ subset: ordo_disorder {source="Orphanet:263432"} subset: orphanet_rare {source="Orphanet:263432"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypomelanosis of Ito" RELATED [NCIT:C7582] +synonym: "hypomelanosis of Ito" RELATED [] synonym: "Ito's Nevus" EXACT [NCIT:C7582] synonym: "nevi of Ito" EXACT [GARD:0010830] synonym: "nevus fuscocaeruleus acromiodeltoideus" EXACT [Orphanet:263432] @@ -388167,7 +388242,7 @@ synonym: "Fuchs heterochromic cyclitis" EXACT [GARD:0006791] synonym: "Fuchs heterochromic uveitis" EXACT [GARD:0006791] synonym: "Fuchs uveitis syndrome" EXACT [DOID:9375] synonym: "Fuchs' heterochromic cyclitis" EXACT [DOID:9375, ICD9CM:364.21] -synonym: "Fuchs' heterochromic uveitis" EXACT [MONDO:0004771] +synonym: "Fuchs' heterochromic uveitis" EXACT [DOID:9375, MONDO:0004771] xref: DOID:9375 {source="MONDO:equivalentTo"} xref: GARD:6791 {source="MONDO:GARD"} xref: ICD10CM:H20.8 {source="Orphanet:263479", source="Orphanet:263479/ntbt"} @@ -388193,7 +388268,7 @@ subset: orphanet_rare {source="Orphanet:26348"} subset: rare synonym: "acquired factor II deficiency" RELATED [GARD:0000475] synonym: "acquired hypoprothrombinemia" EXACT [Orphanet:26348] -synonym: "acquired prothrombin deficiency" EXACT [MONDO:patterns/acquired] +synonym: "acquired prothrombin deficiency" EXACT [MONDO:patterns/acquired, Orphanet:26348] synonym: "hypoprothrombinemia, acquired" RELATED [GARD:0000475] xref: GARD:475 {source="MONDO:GARD"} xref: ICD10CM:D68.4 {source="Orphanet:26348/ntbt", source="Orphanet:26348"} @@ -388244,8 +388319,8 @@ subset: gard_rare {source="GARD:20904", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "generalised deciduous skin type C" EXACT OMO:0003005 [] -synonym: "generalized deciduous skin type C" EXACT [Orphanet:263558] -synonym: "peeling skin syndrome type C" RELATED [Orphanet:263558] +synonym: "generalized deciduous skin type C" EXACT [] +synonym: "peeling skin syndrome type C" RELATED [] xref: GARD:20904 {source="MONDO:GARD"} xref: ICD10CM:Q80.8 {source="Orphanet:263558", source="Orphanet:263558/attributed", source="Orphanet:263558/ntbt"} xref: Orphanet:263558 {source="MONDO:equivalentObsolete"} @@ -388272,7 +388347,7 @@ synonym: "MOPD 1" RELATED [GARD:0005120] synonym: "MOPD types I and III" EXACT [Orphanet:2636] synonym: "osteodysplastic primordial dwarfism type I" RELATED [GARD:0005120] synonym: "primordial microcephalic dwarfism, Crachami type" EXACT [GARD:0005120, Orphanet:2636] -synonym: "Taybi-Linder syndrome" NARROW [Orphanet:2636] +synonym: "Taybi-Linder syndrome" NARROW [] xref: GARD:5120 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:2636", source="Orphanet:2636/attributed", source="Orphanet:2636/ntbt"} xref: MEDGEN:1380769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -388388,7 +388463,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20911", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:263726"} subset: rare -synonym: "partial deletion of chromosome type X" EXACT [MONDORULE:1, Orphanet:263726] +synonym: "partial deletion of chromosome type X" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome X" EXACT [Orphanet:263726] xref: GARD:20911 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:263726/attributed", source="Orphanet:263726/ntbt", source="Orphanet:263726"} @@ -388409,7 +388484,7 @@ subset: rare synonym: "partial deletion of chromosome Xp" EXACT [Orphanet:263731] synonym: "partial deletion of the short arm of chromosome X" EXACT [Orphanet:263731] synonym: "partial monosomy of chromosome Xp" EXACT [Orphanet:263731] -synonym: "partial monosomy of the short arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263731] +synonym: "partial monosomy of the short arm of chromosome type X" EXACT [MONDORULE:1] xref: GARD:20912 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:263731", source="Orphanet:263731/attributed", source="Orphanet:263731/ntbt"} xref: MEDGEN:1826029 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -388453,7 +388528,7 @@ subset: gard_rare {source="GARD:20915", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:263756"} subset: rare synonym: "partial deletion of chromosome Xq" EXACT [Orphanet:263756] -synonym: "partial deletion of the long arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263756] +synonym: "partial deletion of the long arm of chromosome type X" EXACT [MONDORULE:1] synonym: "partial monosomy of chromosome Xq" EXACT [Orphanet:263756] synonym: "partial monosomy of the long arm of chromosome X" EXACT [Orphanet:263756] xref: GARD:20915 {source="MONDO:GARD"} @@ -388473,7 +388548,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:20916", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:263768"} subset: rare -synonym: "partial duplication of chromosome type X" EXACT [MONDORULE:1, Orphanet:263768] +synonym: "partial duplication of chromosome type X" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome X" EXACT [Orphanet:263768] xref: GARD:20916 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:263768/attributed", source="Orphanet:263768/ntbt", source="Orphanet:263768"} @@ -388492,8 +388567,8 @@ subset: gard_rare {source="GARD:12421", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:263775"} subset: rare synonym: "partial duplication of chromosome Xp" EXACT [Orphanet:263775] -synonym: "partial duplication of the short arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263775] -synonym: "partial trisomy of chromosome Xp" EXACT [GARD:0012421, Orphanet:263775] +synonym: "partial duplication of the short arm of chromosome type X" EXACT [MONDORULE:1] +synonym: "partial trisomy of chromosome Xp" EXACT [GARD:0012421] synonym: "partial trisomy of the short arm of chromosome X" EXACT [Orphanet:263775] xref: GARD:12421 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:263775", source="Orphanet:263775/attributed", source="Orphanet:263775/ntbt"} @@ -388517,8 +388592,8 @@ subset: rare synonym: "chromosome Xq duplication" RELATED [GARD:0005369] synonym: "Duplication Xq" RELATED [GARD:0005369] synonym: "partial duplication of chromosome Xq" EXACT [Orphanet:263783] -synonym: "partial duplication of the long arm of chromosome type X" EXACT [MONDORULE:1, Orphanet:263783] -synonym: "partial trisomy of chromosome Xq" EXACT [Orphanet:263783] +synonym: "partial duplication of the long arm of chromosome type X" EXACT [MONDORULE:1] +synonym: "partial trisomy of chromosome Xq" EXACT [] synonym: "partial trisomy of the long arm of chromosome X" EXACT [Orphanet:263783] synonym: "partial trisomy Xq" RELATED [GARD:0005369] synonym: "trisomy Xq" RELATED [GARD:0005369] @@ -388541,8 +388616,8 @@ name: obsolete uniparental disomy of chromosome X comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:263793"} -synonym: "uniparental disomy of chromosome type X" EXACT [MONDORULE:1, Orphanet:263793] -synonym: "UPD(X)" EXACT [Orphanet:263793] +synonym: "uniparental disomy of chromosome type X" EXACT [MONDORULE:1] +synonym: "UPD(X)" EXACT [] xref: ICD10CM:Q99.8 {source="Orphanet:263793/attributed", source="Orphanet:263793/ntbt", source="Orphanet:263793"} xref: Orphanet:263793 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -388557,7 +388632,7 @@ subset: gard_rare {source="GARD:20919", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:264431"} subset: rare synonym: "partial duplication of chromosome 1p" EXACT [Orphanet:264431] -synonym: "partial duplication of the short arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:264431] +synonym: "partial duplication of the short arm of chromosome type 1" EXACT [MONDORULE:1] synonym: "partial trisomy of chromosome 1p" EXACT [Orphanet:264431] xref: GARD:20919 {source="MONDO:GARD"} xref: icd11.foundation:774713494 {source="Orphanet:264431", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -388581,7 +388656,7 @@ subset: orphanet_rare {source="Orphanet:264450"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Duplication 8p" EXACT [Orphanet:264450] -synonym: "trisomy type 8p" EXACT [MONDORULE:4, Orphanet:264450] +synonym: "trisomy type 8p" EXACT [MONDORULE:4] xref: GARD:20920 {source="MONDO:GARD"} xref: ICD10CM:Q92.2 {source="Orphanet:264450", source="Orphanet:264450/attributed", source="Orphanet:264450/ntbt"} xref: MEDGEN:167072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -388625,7 +388700,7 @@ subset: rare synonym: "child" RELATED [GARD:0010559] synonym: "children's interstitial lung disease" RELATED [GARD:0010559] synonym: "primary ILD specific to childhood" EXACT [GARD:0010559, Orphanet:264665] -synonym: "primary interstitial lung disease specific to childhood" EXACT [GARD:0010559] +synonym: "primary interstitial lung disease specific to childhood" EXACT [GARD:0010559, Orphanet:264665] xref: GARD:10559 {source="MONDO:GARD"} xref: icd11.foundation:1408868257 {source="MONDO:equivalentTo", source="Orphanet:264665", source="https://orcid.org/0000-0002-4142-7153"} xref: MEDGEN:853969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -388639,7 +388714,7 @@ id: MONDO:0017016 name: obsolete primary interstitial lung disease specific to childhood due to alveolar structure disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264670"} -synonym: "primary ILD specific to childhood due to alveolar structure disorder" EXACT [Orphanet:264670] +synonym: "primary ILD specific to childhood due to alveolar structure disorder" EXACT [] xref: Orphanet:264670 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388651,7 +388726,7 @@ id: MONDO:0017017 name: obsolete primary interstitial lung disease specific to childhood due to alveolar vascular disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264683"} -synonym: "primary ILD specific to childhood due to alveolar vascular disorder" EXACT [Orphanet:264683] +synonym: "primary ILD specific to childhood due to alveolar vascular disorder" EXACT [] xref: Orphanet:264683 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388695,7 +388770,7 @@ id: MONDO:0017020 name: obsolete secondary interstitial lung disease specific to childhood associated with a systemic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264699"} -synonym: "secondary ILD specific to childhood associated with a systemic disease" EXACT [Orphanet:264699] +synonym: "secondary ILD specific to childhood associated with a systemic disease" EXACT [] xref: Orphanet:264699 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388707,7 +388782,7 @@ id: MONDO:0017021 name: obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264704"} -synonym: "secondary ILD specific to childhood associated with a connective tissue disease" EXACT [Orphanet:264704] +synonym: "secondary ILD specific to childhood associated with a connective tissue disease" EXACT [] xref: Orphanet:264704 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388719,7 +388794,7 @@ id: MONDO:0017022 name: obsolete secondary interstitial lung disease specific to childhood associated with a systemic vasculitis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264709"} -synonym: "secondary ILD specific to childhood associated with a systemic vasculitis" EXACT [Orphanet:264709] +synonym: "secondary ILD specific to childhood associated with a systemic vasculitis" EXACT [] xref: Orphanet:264709 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388731,7 +388806,7 @@ id: MONDO:0017023 name: obsolete secondary interstitial lung disease specific to childhood associated with a granulomatous disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264714"} -synonym: "secondary ILD specific to childhood associated with a granulomatous disease" EXACT [Orphanet:264714] +synonym: "secondary ILD specific to childhood associated with a granulomatous disease" EXACT [] xref: Orphanet:264714 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388743,7 +388818,7 @@ id: MONDO:0017024 name: obsolete secondary interstitial lung disease specific to childhood associated with a metabolic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264719"} -synonym: "secondary ILD specific to childhood associated with a metabolic disease" EXACT [Orphanet:264719] +synonym: "secondary ILD specific to childhood associated with a metabolic disease" EXACT [] xref: Orphanet:264719 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388758,9 +388833,9 @@ subset: disease_grouping subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood Langerhans cell histiocytosis" EXACT [NCIT:C114483] -synonym: "histiocytosis X specific to childhood" EXACT [Orphanet:264724] -synonym: "Langerhans cell granulomatosis specific to childhood" EXACT [Orphanet:264724] -synonym: "Langerhans cell histiocytosis" BROAD [NCIT:C114483] +synonym: "histiocytosis X specific to childhood" EXACT [] +synonym: "Langerhans cell granulomatosis specific to childhood" EXACT [] +synonym: "Langerhans cell histiocytosis" BROAD [] xref: MEDGEN:859249 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200031 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NCIT:C114483 {source="MONDO:equivalentTo"} @@ -388783,7 +388858,7 @@ is_a: MONDO:0015925 {source="Orphanet:264735", source="https://orcid.org/0000-00 id: MONDO:0017027 name: obsolete primary interstitial lung disease specific to adulthood subset: ordo_group_of_disorders {source="Orphanet:264740"} -synonym: "primary ILD specific to adulthood" EXACT [Orphanet:264740] +synonym: "primary ILD specific to adulthood" EXACT [] xref: Orphanet:264740 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -388795,7 +388870,7 @@ id: MONDO:0017028 name: obsolete secondary interstitial lung disease specific to adulthood associated with a systemic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264745"} -synonym: "secondary ILD specific to adulthood associated with a systemic disease" EXACT [Orphanet:264745] +synonym: "secondary ILD specific to adulthood associated with a systemic disease" EXACT [] xref: Orphanet:264745 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388810,9 +388885,9 @@ subset: disease_grouping subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult Langerhans cell histiocytosis" EXACT [NCIT:C114929] -synonym: "histiocytosis X specific to adulthood" EXACT [Orphanet:264750] -synonym: "Langerhans cell granulomatosis specific to adulthood" EXACT [Orphanet:264750] -synonym: "Langerhans cell histiocytosis" BROAD [NCIT:C114929] +synonym: "histiocytosis X specific to adulthood" EXACT [] +synonym: "Langerhans cell granulomatosis specific to adulthood" EXACT [] +synonym: "Langerhans cell histiocytosis" BROAD [] xref: MEDGEN:859694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200031 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NCIT:C114929 {source="MONDO:equivalentTo"} @@ -388825,7 +388900,7 @@ is_a: MONDO:0018310 {source="NCIT:C114929"} ! Langerhans cell histiocytosis id: MONDO:0017030 name: obsolete interstitial lung disease in childhood and adulthood subset: ordo_group_of_disorders {source="Orphanet:264757"} -synonym: "ILD in childhood and adulthood" EXACT [Orphanet:264757] +synonym: "ILD in childhood and adulthood" EXACT [] xref: Orphanet:264757 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -388836,7 +388911,7 @@ is_obsolete: true id: MONDO:0017031 name: obsolete primary interstitial lung disease in childhood and adulthood subset: ordo_group_of_disorders {source="Orphanet:264762"} -synonym: "primary ILD in childhood and adulthood" EXACT [Orphanet:264762] +synonym: "primary ILD in childhood and adulthood" EXACT [] xref: Orphanet:264762 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -388848,7 +388923,7 @@ id: MONDO:0017032 name: obsolete primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264930"} -synonym: "primary ILD in childhood and adulthood due to alveolar structure disorder" EXACT [Orphanet:264930] +synonym: "primary ILD in childhood and adulthood due to alveolar structure disorder" EXACT [] xref: Orphanet:264930 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388860,7 +388935,7 @@ id: MONDO:0017033 name: obsolete primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264935"} -synonym: "primary ILD in childhood and adulthood due to alveolar vascular disorder" EXACT [Orphanet:264935] +synonym: "primary ILD in childhood and adulthood due to alveolar vascular disorder" EXACT [] xref: Orphanet:264935 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388871,7 +388946,7 @@ consider: MONDO:0015925 id: MONDO:0017034 name: obsolete secondary interstitial lung disease in childhood and adulthood subset: ordo_group_of_disorders {source="Orphanet:264944"} -synonym: "secondary ILD in childhood and adulthood" EXACT [Orphanet:264944] +synonym: "secondary ILD in childhood and adulthood" EXACT [] xref: Orphanet:264944 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -388883,7 +388958,7 @@ id: MONDO:0017035 name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264949"} -synonym: "secondary ILD in childhood and adulthood associated with a systemic disease" EXACT [Orphanet:264949] +synonym: "secondary ILD in childhood and adulthood associated with a systemic disease" EXACT [] xref: Orphanet:264949 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388893,8 +388968,8 @@ consider: MONDO:0015925 [Term] id: MONDO:0017036 name: obsolete Langerhans cell histiocytosis in childhood and adulthood -synonym: "histiocytosis X in childhood and adulthood" EXACT [Orphanet:264955] -synonym: "Langerhans cell granulomatosis in childhood and adulthood" EXACT [Orphanet:264955] +synonym: "histiocytosis X in childhood and adulthood" EXACT [] +synonym: "Langerhans cell granulomatosis in childhood and adulthood" EXACT [] xref: Orphanet:264955 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -388909,7 +388984,7 @@ id: MONDO:0017037 name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264968"} -synonym: "secondary ILD in childhood and adulthood associated with a metabolic disease" EXACT [Orphanet:264968] +synonym: "secondary ILD in childhood and adulthood associated with a metabolic disease" EXACT [] xref: Orphanet:264968 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388921,7 +388996,7 @@ id: MONDO:0017038 name: obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: interstitial lung disease' subset: ordo_group_of_disorders {source="Orphanet:264973"} -synonym: "secondary ILD in childhood and adulthood associated with a systemic vasculitis" EXACT [Orphanet:264973] +synonym: "secondary ILD in childhood and adulthood associated with a systemic vasculitis" EXACT [] xref: Orphanet:264973 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -388967,7 +389042,7 @@ def: "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is cha subset: gard_rare {source="GARD:18776", source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:2653"} subset: rare -synonym: "Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome" EXACT [Orphanet:2653] +synonym: "Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome" EXACT [] xref: GARD:18776 {source="MONDO:GARD"} xref: MEDGEN:928494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:2653 {source="MONDO:equivalentObsolete"} @@ -388993,8 +389068,9 @@ subset: orphanet_rare {source="Orphanet:2655"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dwarfism thanatophoric" RELATED [GARD:0000085] -synonym: "Td" EXACT [Orphanet:2655] -synonym: "thanatophoric dwarfism" EXACT [Orphanet:2655] +synonym: "TD" EXACT ABBREVIATION [Orphanet:2655] +synonym: "Td" EXACT [] +synonym: "thanatophoric dwarfism" EXACT [icd11.foundation:1668919215] xref: DOID:13481 {source="MONDO:equivalentTo"} xref: GARD:85 {source="MONDO:GARD"} xref: ICD10CM:Q77.1 {source="DOID:13481", source="Orphanet:2655", source="Orphanet:2655/specific", source="Orphanet:2655/e"} @@ -389025,9 +389101,10 @@ subset: ordo_disorder {source="Orphanet:2665"} subset: orphanet_rare {source="Orphanet:2665"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CMn" EXACT [NCIT:C6569] -synonym: "congenital mesoblastic nephroma" EXACT [NCIT:C6569] -synonym: "mesoblastic nephroma" BROAD [NCIT:C6569] +synonym: "CMN" EXACT ABBREVIATION [NCIT:C6569] +synonym: "CMn" EXACT [] +synonym: "congenital mesoblastic nephroma" EXACT [DOID:4773, icd11.foundation:2001572901, NCIT:C6569, Orphanet:2665] +synonym: "mesoblastic nephroma" BROAD [] synonym: "stromal nephroma, malignant" EXACT [NCIT:C6569] xref: DOID:4773 {source="MONDO:equivalentTo"} xref: GARD:1493 {source="MONDO:GARD"} @@ -389072,7 +389149,7 @@ subset: gard_rare {source="GARD:3959", source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:2676"} subset: rare synonym: "neuroectodermal endocrine syndrome" RELATED [GARD:0003959] -synonym: "Oerter-Friedman-Anderson syndrome" EXACT [Orphanet:2676] +synonym: "Oerter-Friedman-Anderson syndrome" EXACT [] xref: GARD:3959 {source="MONDO:GARD"} xref: ICD10CM:E31.8 {source="Orphanet:2676/attributed", source="Orphanet:2676/ntbt", source="Orphanet:2676"} xref: Orphanet:2676 {source="MONDO:equivalentObsolete"} @@ -389137,10 +389214,10 @@ synonym: "mucinous ascites" EXACT [DOID:3559, NCIT:C3345] synonym: "Myxoma peritonei" EXACT [NCIT:C3345] synonym: "peritoneal cavity pseudomyxoma peritonei" EXACT [NCIT:C3345] synonym: "PMP" EXACT ABBREVIATION [Orphanet:26790] -synonym: "pseudomyxoma peritonei" EXACT [NCIT:C3345] -synonym: "pseudomyxoma peritonei (morphologic abnormality)" EXACT [DOID:3559] +synonym: "pseudomyxoma peritonei" EXACT [DOID:3559, NCIT:C3345, Orphanet:26790] +synonym: "pseudomyxoma peritonei (morphologic abnormality)" EXACT [] synonym: "syndrome of pseudomyxoma peritonei" RELATED [GARD:0007488] -synonym: "well differentiated peritoneal mucinous adenocarcinoma" EXACT [NCIT:C3345] +synonym: "well differentiated peritoneal mucinous adenocarcinoma" EXACT [] xref: DOID:3559 {source="MONDO:equivalentTo"} xref: GARD:7488 {source="MONDO:GARD"} xref: ICD10CM:C78.6 {source="Orphanet:26790", source="DOID:3559", source="Orphanet:26790/ntbt"} @@ -389163,7 +389240,7 @@ name: obsolete hypomyelination neuropathy-arthrogryposis syndrome def: "OBSOLETE. Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons." [Orphanet:2680] subset: ordo_disorder {source="Orphanet:2680"} subset: otar {source="MONDO:OTAR"} -synonym: "Boylan-dew syndrome" EXACT [Orphanet:2680] +synonym: "Boylan-dew syndrome" EXACT [] xref: Orphanet:2680 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -389181,7 +389258,7 @@ subset: ordo_disorder {source="Orphanet:268139"} subset: orphanet_rare {source="Orphanet:268139"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intraocular medulloepithelioma" EXACT [NCIT:C66806] +synonym: "intraocular medulloepithelioma" EXACT [NCIT:C66806, Orphanet:268139] synonym: "orbital medulloepithelioma" EXACT [Orphanet:268139] xref: GARD:20945 {source="MONDO:GARD"} xref: MEDGEN:408140 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -389201,10 +389278,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:268145"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "classic BCKD deficiency" EXACT [Orphanet:268145] -synonym: "classic branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268145] +synonym: "classic branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [] synonym: "classic branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268145] synonym: "classic branched-chain ketoaciduria" EXACT [Orphanet:268145] -synonym: "classic maple syrup urine disease" EXACT CLINGEN_LABEL [] +synonym: "classic maple syrup urine disease" EXACT CLINGEN_LABEL [Orphanet:268145] synonym: "classic MSUD" EXACT [Orphanet:268145] xref: GARD:17263 {source="MONDO:GARD"} xref: ICD10CM:E71.0 {source="Orphanet:268145", source="Orphanet:268145/attributed", source="Orphanet:268145/ntbt"} @@ -389226,9 +389303,9 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:268162"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Intermediate BCKD deficiency" EXACT [Orphanet:268162] -synonym: "Intermediate branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268162] +synonym: "Intermediate branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [] synonym: "Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268162] -synonym: "intermediate maple syrup urine disease" EXACT CLINGEN_LABEL [] +synonym: "intermediate maple syrup urine disease" EXACT CLINGEN_LABEL [Orphanet:268162] synonym: "Intermediate MSUD" EXACT [Orphanet:268162] xref: GARD:17264 {source="MONDO:GARD"} xref: ICD10CM:E71.0 {source="Orphanet:268162", source="Orphanet:268162/attributed", source="Orphanet:268162/ntbt"} @@ -389251,9 +389328,9 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:268173"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "intermittent BCKD deficiency" EXACT [Orphanet:268173] -synonym: "intermittent branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268173] +synonym: "intermittent branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [] synonym: "intermittent branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268173] -synonym: "intermittent maple syrup urine disease" EXACT CLINGEN_LABEL [] +synonym: "intermittent maple syrup urine disease" EXACT CLINGEN_LABEL [Orphanet:268173] synonym: "intermittent MSUD" EXACT [Orphanet:268173] xref: GARD:17265 {source="MONDO:GARD"} xref: ICD10CM:E71.0 {source="Orphanet:268173", source="Orphanet:268173/attributed", source="Orphanet:268173/ntbt"} @@ -389276,9 +389353,9 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:268184"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "thiamine-responsive BCKD deficiency" EXACT [Orphanet:268184] -synonym: "thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268184] +synonym: "thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency" EXACT [] synonym: "thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency" EXACT [Orphanet:268184] -synonym: "thiamine-responsive maple syrup urine disease" EXACT CLINGEN_LABEL [] +synonym: "thiamine-responsive maple syrup urine disease" EXACT CLINGEN_LABEL [Orphanet:268184] synonym: "thiamine-responsive MSUD" EXACT [Orphanet:268184] xref: GARD:17266 {source="MONDO:GARD"} xref: ICD10CM:E71.0 {source="Orphanet:268184", source="Orphanet:268184/attributed", source="Orphanet:268184/ntbt"} @@ -389318,10 +389395,10 @@ subset: gard_rare {source="GARD:20947", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:268261"} subset: rare -synonym: "21q22.13-q22.2 microdeletion syndrome" EXACT [Orphanet:268261] +synonym: "21q22.13-q22.2 microdeletion syndrome" EXACT [] synonym: "21q22.13q22.2 microdeletion syndrome" EXACT [Orphanet:268261] synonym: "Del(21)(q22.13q22.2)" EXACT [Orphanet:268261] -synonym: "monosomy 21q22.13-q22.2" EXACT [Orphanet:268261] +synonym: "monosomy 21q22.13-q22.2" EXACT [] synonym: "monosomy 21q22.13q22.2" EXACT [Orphanet:268261] xref: GARD:20947 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:268261", source="Orphanet:268261/attributed", source="Orphanet:268261/ntbt"} @@ -389355,9 +389432,9 @@ subset: disease_grouping subset: gard_rare {source="GARD:12452", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:268337"} subset: rare -synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease" EXACT [] +synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease" EXACT [Orphanet:268337] synonym: "intermediate Charcot-Marie-Tooth disease, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -synonym: "RI-CMT" EXACT [Orphanet:268337] +synonym: "RI-CMT" EXACT ABBREVIATION [Orphanet:268337] xref: GARD:12452 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:268337/attributed", source="Orphanet:268337/ntbt", source="Orphanet:268337"} xref: MEDGEN:1843095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -389528,7 +389605,7 @@ subset: ordo_group_of_disorders {source="Orphanet:268744"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "meningomyelocele" EXACT [NCIT:C101201] -synonym: "myelomeningocele" NARROW [NCIT:C101201] +synonym: "myelomeningocele" NARROW [] synonym: "open spina bifida" RELATED [MESH:D016137] synonym: "spina bifida aperta" RELATED [MESH:D016137] synonym: "spina bifida manifesta" RELATED [MESH:D016137] @@ -389678,7 +389755,7 @@ subset: gard_rare {source="GARD:20967", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:268817"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cephalocele" EXACT [MONDO:ambiguous] +synonym: "cephalocele" EXACT [icd11.foundation:1520916568, MONDO:ambiguous, Orphanet:268817] synonym: "cephalocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cranium bifidum" EXACT [NCIT:C84687] synonym: "encephalocele" EXACT [NCIT:C84687] @@ -389714,7 +389791,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "brain meninx cephalocele (disease)" EXACT [MONDO:patterns/location] synonym: "cephalocele (disease) of brain meninx" EXACT [] -synonym: "cranial meningocele" RELATED [Orphanet:268820] +synonym: "cranial meningocele" RELATED [] synonym: "encephalomeningocele" RELATED [GARD:0003473] synonym: "meningoencephalocele" EXACT [] xref: GARD:20968 {source="MONDO:GARD"} @@ -389898,7 +389975,7 @@ id: MONDO:0017090 name: obsolete midline cerebral malformation subset: ordo_group_of_disorders {source="Orphanet:268926"} subset: otar {source="MONDO:OTAR"} -synonym: "Midline brain malformation" EXACT [Orphanet:268926] +synonym: "Midline brain malformation" EXACT [] xref: ICD10CM:Q04.8 {source="Orphanet:268926", source="Orphanet:268926/attributed", source="Orphanet:268926/ntbt"} xref: Orphanet:268926 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -389976,7 +390053,7 @@ subset: ordo_group_of_disorders {source="Orphanet:268950"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "brain cortical dysplasia" EXACT [Orphanet:268950] -synonym: "cortical dysplasia" EXACT [NCIT:C42088] +synonym: "cortical dysplasia" EXACT [icd11.foundation:1352548261, NCIT:C42088] xref: GARD:20982 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:268950/attributed", source="Orphanet:268950/ntbt", source="Orphanet:268950"} xref: icd11.foundation:1352548261 {source="Orphanet:268950", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -390168,7 +390245,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_morphological_anomaly {source="Orphanet:269200"} subset: rare -synonym: "Retrocerebellar arachnoid cyst" EXACT [Orphanet:269200] +synonym: "Retrocerebellar arachnoid cyst" EXACT [] synonym: "Retrocerebellar cyst" EXACT [MONDO:ambiguous] synonym: "retrocerebellar cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0006951 {source="MONDO:otherHierarchy"} @@ -390301,7 +390378,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017114 name: obsolete global cerebellar malformation subset: ordo_group_of_disorders {source="Orphanet:269224"} -synonym: "diffuse cerebellar malformation" EXACT [Orphanet:269224] +synonym: "diffuse cerebellar malformation" EXACT [] xref: ICD10CM:Q04.3 {source="Orphanet:269224", source="Orphanet:269224/ntbt"} xref: Orphanet:269224 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -390423,12 +390500,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:2697"} subset: orphanet_rare {source="Orphanet:2697"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ARC syndrome" EXACT [MONDO:0000444, Orphanet:2697] +synonym: "ARC syndrome" EXACT [DOID:0050763, MONDO:0000444, Orphanet:2697] synonym: "arthrogryposis - renal dysfunction - cholestasis" RELATED [GARD:0000794] synonym: "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis" RELATED [GARD:0000794] synonym: "arthrogryposis renal dysfunction cholestasis syndrome" RELATED [GARD:0000794] synonym: "arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome" EXACT [DOID:0050763] -synonym: "arthrogryposis, renal dysfunction, and cholestasis" EXACT [DOID:0050763] +synonym: "arthrogryposis, renal dysfunction, and cholestasis" EXACT [DOID:0050763, OMIMPS:208085] synonym: "arthrogryposis-renal dysfunction-cholestasis" EXACT [DOID:0050763] xref: DOID:0050763 {source="MONDO:equivalentTo"} xref: GARD:794 {source="MONDO:GARD"} @@ -390456,8 +390533,8 @@ subset: ordo_disorder {source="Orphanet:2700"} subset: orphanet_rare {source="Orphanet:2700"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancrum oris" EXACT [DOID:9672, ICD9CM:528.1, Orphanet:2700] -synonym: "gangrenous stomatitis" EXACT [DOID:9672] +synonym: "cancrum oris" EXACT [DOID:9672, icd11.foundation:340823130, ICD9CM:528.1, Orphanet:2700] +synonym: "gangrenous stomatitis" EXACT [DOID:9672, icd11.foundation:340823130, NCIT:C34852] synonym: "noma neonatorum" RELATED [GARD:0004001] synonym: "oral gangrene" RELATED [GARD:0004001] synonym: "oro-facial gangrene" RELATED [GARD:0004001] @@ -390510,9 +390587,9 @@ name: obsolete inherited soft tissue tumor def: "OBSOLETE. An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_group_of_disorders {source="Orphanet:271832"} synonym: "genetic mesenchymal cell neoplasm" EXACT [MONDO:patterns/genetic] -synonym: "genetic mesenchymal tumor" EXACT [Orphanet:271832] +synonym: "genetic mesenchymal tumor" EXACT [] synonym: "genetic mesenchymal tumour" EXACT OMO:0003005 [] -synonym: "genetic soft tissue tumor" RELATED [Orphanet:271832] +synonym: "genetic soft tissue tumor" RELATED [] synonym: "genetic soft tissue tumour" RELATED OMO:0003005 [] synonym: "hereditary mesenchymal cell neoplasm" EXACT [MONDO:patterns/hereditary] xref: Orphanet:271832 {source="MONDO:obsoleteEquivalent"} @@ -390526,7 +390603,7 @@ is_obsolete: true id: MONDO:0017128 name: obsolete inherited digestive tract tumor subset: ordo_group_of_disorders {source="Orphanet:271835"} -synonym: "genetic digestive tract tumor" RELATED [Orphanet:271835] +synonym: "genetic digestive tract tumor" RELATED [] synonym: "genetic digestive tract tumour" RELATED OMO:0003005 [] xref: Orphanet:271835 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -390541,9 +390618,9 @@ name: obsolete inherited cardiac tumor def: "OBSOLETE. An instance of heart cancer that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:271841"} -synonym: "genetic cardiac tumor" RELATED [Orphanet:271841] +synonym: "genetic cardiac tumor" RELATED [] synonym: "genetic cardiac tumour" RELATED OMO:0003005 [] -synonym: "genetic heart tumor" EXACT [Orphanet:271841] +synonym: "genetic heart tumor" EXACT [] synonym: "genetic heart tumour" EXACT OMO:0003005 [] synonym: "hereditary heart neoplasm" EXACT [MONDO:patterns/hereditary] xref: Orphanet:271841 {source="MONDO:obsoleteEquivalent"} @@ -390567,7 +390644,7 @@ id: MONDO:0017131 name: obsolete hereditary cardiac anomaly subset: ordo_group_of_disorders {source="Orphanet:271853"} subset: otar {source="MONDO:OTAR"} -synonym: "genetic cardiac anomaly" EXACT [Orphanet:271853] +synonym: "genetic cardiac anomaly" EXACT [] xref: Orphanet:271853 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -390671,10 +390748,10 @@ subset: ordo_disorder {source="Orphanet:2737"} subset: orphanet_rare {source="Orphanet:2737"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "infection by Onchocerca volvulus" EXACT [] +synonym: "infection by Onchocerca volvulus" EXACT [DOID:11678, icd11.foundation:106136071] synonym: "infection caused by Onchocerca volvulus" RELATED [] -synonym: "Onchocerca volvulus infection" EXACT [DOID:11678] -synonym: "onchocerciasis" EXACT [] +synonym: "Onchocerca volvulus infection" EXACT [DOID:11678, ICD10CM:B73] +synonym: "onchocerciasis" EXACT [DOID:11678, ICD10CM:B73, icd11.foundation:106136071, NCIT:C34861, Orphanet:2737] synonym: "onchocercosis" RELATED [] synonym: "River blindness" RELATED [GARD:0007252] synonym: "Robles' disease" RELATED [GARD:0007252] @@ -390726,12 +390803,12 @@ synonym: "hypertelorism with esophageal abnormality and hypospadias" RELATED [GA synonym: "hypertelorism-oesophageal abnormality-hypospadias syndrome" EXACT [Orphanet:2745] synonym: "hypospadias-dysphagia syndrome" EXACT [Orphanet:2745] synonym: "hypospadias-dysphagia, syndrome" RELATED [GARD:0000193] -synonym: "hypospadias-hypertelorism syndrome" EXACT [Orphanet:2745] +synonym: "hypospadias-hypertelorism syndrome" EXACT [] synonym: "Opitz BBBG syndrome" RELATED [GARD:0000193] synonym: "Opitz G syndrome" EXACT [NCIT:C125487] -synonym: "Opitz G/BBB syndrome" EXACT [DOID:0050780] -synonym: "Opitz GBBB syndrome" EXACT [GARD:0000193, NCIT:C125487] -synonym: "Opitz syndrome" EXACT [Orphanet:2745] +synonym: "Opitz G/BBB syndrome" EXACT [DOID:0080697, NCIT:C125487, Orphanet:2745] +synonym: "Opitz GBBB syndrome" EXACT [DOID:0080697, GARD:0000193, NCIT:C125487, Orphanet:2745] +synonym: "Opitz syndrome" EXACT [] synonym: "Opitz-Frias syndrome" EXACT [Orphanet:2745] synonym: "Opitz-G syndrome, type 2" RELATED [GARD:0000193] synonym: "Opitz-GBBB syndrome" EXACT [MONDO:0000449] @@ -390788,7 +390865,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome" EXACT [Orphanet:275543] synonym: "CRASH syndrome" EXACT [Orphanet:275543] -synonym: "L1 syndrome" EXACT CLINGEN_LABEL [] +synonym: "L1 syndrome" EXACT CLINGEN_LABEL [icd11.foundation:1457804873, Orphanet:275543] synonym: "L1CAM syndrome" EXACT [Orphanet:275543] xref: GARD:12524 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:275543", source="Orphanet:275543/attributed", source="Orphanet:275543/ntbt"} @@ -390807,12 +390884,12 @@ id: MONDO:0017141 name: obsolete hemorrhagic disorder due to a constitutional thrombocytopenia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:275729"} -synonym: "rare bleeding disorder due to a constitutional thrombocytopenia" EXACT [Orphanet:275729] -synonym: "rare bleeding disorder due to a quantitative platelet defect" EXACT [Orphanet:275729] -synonym: "rare coagulopathy due to a constitutional thrombocytopenia" EXACT [Orphanet:275729] -synonym: "rare coagulopathy due to a quantitative platelet defect" EXACT [Orphanet:275729] -synonym: "rare hemorrhagic disorder due to a constitutional thrombocytopenia" EXACT [Orphanet:275729] -synonym: "rare hemorrhagic disorder due to a quantitative platelet defect" EXACT [Orphanet:275729] +synonym: "rare bleeding disorder due to a constitutional thrombocytopenia" EXACT [] +synonym: "rare bleeding disorder due to a quantitative platelet defect" EXACT [] +synonym: "rare coagulopathy due to a constitutional thrombocytopenia" EXACT [] +synonym: "rare coagulopathy due to a quantitative platelet defect" EXACT [] +synonym: "rare hemorrhagic disorder due to a constitutional thrombocytopenia" EXACT [] +synonym: "rare hemorrhagic disorder due to a quantitative platelet defect" EXACT [] xref: Orphanet:275729 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -390825,12 +390902,12 @@ id: MONDO:0017142 name: obsolete hemorrhagic disorder due to a qualitative platelet defect subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:275736"} -synonym: "rare bleeding disorder due to a constitutional thrombopathy" EXACT [Orphanet:275736] -synonym: "rare bleeding disorder due to a qualitative platelet defect" EXACT [Orphanet:275736] -synonym: "rare coagulopathy due to a constitutional thrombopathy" EXACT [Orphanet:275736] -synonym: "rare coagulopathy due to a qualitative platelet defect" EXACT [Orphanet:275736] -synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy" EXACT [Orphanet:275736] -synonym: "rare hemorrhagic disorder due to a qualitative platelet defect" EXACT [Orphanet:275736] +synonym: "rare bleeding disorder due to a constitutional thrombopathy" EXACT [] +synonym: "rare bleeding disorder due to a qualitative platelet defect" EXACT [] +synonym: "rare coagulopathy due to a constitutional thrombopathy" EXACT [] +synonym: "rare coagulopathy due to a qualitative platelet defect" EXACT [] +synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy" EXACT [] +synonym: "rare hemorrhagic disorder due to a qualitative platelet defect" EXACT [] xref: ICD10CM:D69.8 {source="Orphanet:275736/attributed", source="Orphanet:275736/ntbt", source="Orphanet:275736"} xref: Orphanet:275736 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -390934,7 +391011,8 @@ subset: rare synonym: "familial pulmonary arterial hypertension" EXACT [Orphanet:275777] synonym: "FPAH" EXACT ABBREVIATION [Orphanet:275777] synonym: "hereditary pulmonary arterial hypertension" EXACT [MONDO:patterns/hereditary, Orphanet:275777] -synonym: "HpaH" EXACT [Orphanet:275777] +synonym: "HPAH" EXACT ABBREVIATION [NCIT:C121945, Orphanet:275777] +synonym: "HpaH" EXACT [] xref: GARD:11914 {source="MONDO:GARD"} xref: ICD10CM:I27.0 {source="Orphanet:275777", source="Orphanet:275777/attributed", source="Orphanet:275777/ntbt"} xref: MEDGEN:90953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -390973,8 +391051,8 @@ name: obsolete pulmonary arterial hypertension associated with another disease def: "OBSOLETE. Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal." [Orphanet:275791] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275791"} -synonym: "PAH associated with another disease" EXACT [Orphanet:275791] -synonym: "secondary PAH" EXACT [Orphanet:275791] +synonym: "PAH associated with another disease" EXACT [] +synonym: "secondary PAH" EXACT [] xref: ICD10CM:I27.2 {source="Orphanet:275791", source="Orphanet:275791/ntbt"} xref: NANDO:2201048 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:275791 {source="MONDO:obsoleteEquivalent"} @@ -390989,7 +391067,7 @@ name: obsolete pulmonary arterial hypertension associated with connective tissue def: "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease." [Orphanet:275798] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275798"} -synonym: "PAH associated with connective tissue disease" EXACT [Orphanet:275798] +synonym: "PAH associated with connective tissue disease" EXACT [] xref: ICD10CM:I27.2 {source="Orphanet:275798", source="Orphanet:275798/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275798 {source="MONDO:obsoleteEquivalent"} @@ -391005,7 +391083,7 @@ name: obsolete pulmonary arterial hypertension associated with congenital heart def: "OBSOLETE. Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery." [Orphanet:275803] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275803"} -synonym: "PAH associated with congenital heart disease" EXACT [Orphanet:275803] +synonym: "PAH associated with congenital heart disease" EXACT [] xref: ICD10CM:I27.2 {source="Orphanet:275803/ntbt", source="Orphanet:275803"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275803 {source="MONDO:obsoleteEquivalent"} @@ -391021,7 +391099,7 @@ name: obsolete pulmonary arterial hypertension associated with HIV infection def: "OBSOLETE. Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection." [Orphanet:275808] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275808"} -synonym: "PAH associated with HIV infaction" EXACT [Orphanet:275808] +synonym: "PAH associated with HIV infaction" EXACT [] xref: ICD10CM:I27.2 {source="Orphanet:275808/ntbt", source="Orphanet:275808"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275808 {source="MONDO:obsoleteEquivalent"} @@ -391037,9 +391115,9 @@ name: obsolete pulmonary arterial hypertension associated with portal hypertensi def: "OBSOLETE. Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension." [Orphanet:275813] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275813"} -synonym: "PAH associated with portal hypertension" EXACT [Orphanet:275813] -synonym: "POPH" EXACT ABBREVIATION [Orphanet:275813] -synonym: "Portopulmonary hypertension" EXACT [Orphanet:275813] +synonym: "PAH associated with portal hypertension" EXACT [] +synonym: "POPH" EXACT ABBREVIATION [] +synonym: "Portopulmonary hypertension" EXACT [] xref: ICD10CM:I27.2 {source="Orphanet:275813/ntbt", source="Orphanet:275813"} xref: Orphanet:275813 {source="MONDO:obsoleteEquivalent"} xref: SCTID:445237003 {source="MONDO:obsoleteEquivalent"} @@ -391054,7 +391132,7 @@ name: obsolete pulmonary arterial hypertension associated with schistosomiasis def: "OBSOLETE. Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis." [Orphanet:275823] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275823"} -synonym: "PAH associated with schistosomiasis" EXACT [Orphanet:275823] +synonym: "PAH associated with schistosomiasis" EXACT [] xref: ICD10CM:I27.2 {source="Orphanet:275823", source="Orphanet:275823/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275823 {source="MONDO:obsoleteEquivalent"} @@ -391070,7 +391148,7 @@ name: obsolete pulmonary arterial hypertension associated with chronic hemolytic def: "OBSOLETE. Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia." [Orphanet:275828] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275828"} -synonym: "PAH associated with chronic hemolytic anemia" EXACT [Orphanet:275828] +synonym: "PAH associated with chronic hemolytic anemia" EXACT [] xref: ICD10CM:I27.2 {source="Orphanet:275828", source="Orphanet:275828/ntbt"} xref: ICD9:416.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: Orphanet:275828 {source="MONDO:obsoleteEquivalent"} @@ -391104,7 +391182,7 @@ id: MONDO:0017158 name: obsolete pulmonary hypertension with unclear multifactorial mechanism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: pulmonary arterial hypertension' subset: ordo_group_of_disorders {source="Orphanet:275844"} -synonym: "PH with unclear multifactorial mechanism" EXACT [Orphanet:275844] +synonym: "PH with unclear multifactorial mechanism" EXACT [] xref: Orphanet:275844 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -391156,8 +391234,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "frontotemporal dementia with ALS" EXACT [PMID:21222600] synonym: "frontotemporal dementia with amyotrophic lateral sclerosis" EXACT [Orphanet:275872] -synonym: "FTD-ALS" EXACT [Orphanet:275872] -synonym: "FTD-MND" EXACT [Orphanet:275872] +synonym: "FTD-ALS" EXACT ABBREVIATION [Orphanet:275872] +synonym: "FTD-MND" EXACT ABBREVIATION [Orphanet:275872] synonym: "FTDALS" EXACT ABBREVIATION [MONDO:0000712] xref: GARD:17273 {source="MONDO:GARD"} xref: icd11.foundation:1171850356 {source="MONDO:equivalentTo"} @@ -391185,7 +391263,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2759"} subset: orphanet_rare {source="Orphanet:2759"} subset: rare synonym: "imperforate oropharynx-costo vetebral anomalies" RELATED [GARD:0002989] -synonym: "imperforate oropharynx-costovertebral anomalies syndrome" RELATED [Orphanet:2759] +synonym: "imperforate oropharynx-costovertebral anomalies syndrome" RELATED [] synonym: "Seghers syndrome" EXACT [Orphanet:2759] xref: GARD:2989 {source="MONDO:GARD"} xref: MEDGEN:1663228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -391202,7 +391280,7 @@ id: MONDO:0017163 name: obsolete hemolytic disease due to fetomaternal alloimmunization comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:275938"} -synonym: "hemolytic disease of the fetus and newborn" EXACT [Orphanet:275938] +synonym: "hemolytic disease of the fetus and newborn" EXACT [] xref: ICD10CM:P55.0 {source="Orphanet:275938", source="Orphanet:275938/btnt"} xref: ICD10CM:P55.1 {source="Orphanet:275938", source="Orphanet:275938/btnt"} xref: ICD10CM:P55.8 {source="Orphanet:275938", source="Orphanet:275938/btnt"} @@ -391266,7 +391344,7 @@ subset: ordo_disorder {source="Orphanet:276145"} subset: orphanet_rare {source="Orphanet:276145"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "malignant epithelial tumor of the salivary glands" RELATED [Orphanet:276145] +synonym: "malignant epithelial tumor of the salivary glands" RELATED [] synonym: "malignant epithelial tumour of the salivary glands" RELATED OMO:0003005 [] xref: GARD:21043 {source="MONDO:GARD"} xref: ICD10CM:C07 {source="Orphanet:276145", source="Orphanet:276145/btnt"} @@ -391304,11 +391382,11 @@ subset: ordo_group_of_disorders {source="Orphanet:276161"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MEN" EXACT ABBREVIATION [NCIT:C6432, Orphanet:276161] -synonym: "men syndrome" EXACT [NCIT:C6432] +synonym: "men syndrome" EXACT [] synonym: "men syndromes" EXACT [NCIT:C6432] -synonym: "multiple endocrine adenomatosis" EXACT [NCIT:C6432] -synonym: "multiple endocrine neoplasia" EXACT [NCIT:C6432] -synonym: "multiple endocrine neoplasia syndrome" EXACT [NCIT:C6432] +synonym: "multiple endocrine adenomatosis" EXACT [DOID:3125, NCIT:C6432] +synonym: "multiple endocrine neoplasia" EXACT [DOID:3125, NCIT:C6432, OMIMPS:131100, Orphanet:276161] +synonym: "multiple endocrine neoplasia syndrome" EXACT [DOID:3125, NCIT:C6432] synonym: "multiple endocrine neoplasia syndrome(s)" EXACT [NCIT:C6432] xref: DOID:3125 {source="MONDO:equivalentTo"} xref: GARD:21044 {source="MONDO:GARD"} @@ -391397,7 +391475,7 @@ def: "OBSOLETE. Non-syndromic male infertility due to sperm motility disorder is subset: ordo_disorder {source="Orphanet:276234"} subset: otar {source="MONDO:OTAR"} synonym: "isolated male infertility due to sperm motility disorder" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "non-syndromic male infertility due asthenozoospermia" EXACT [Orphanet:276234] +synonym: "non-syndromic male infertility due asthenozoospermia" EXACT [] synonym: "nonsyndromic male infertility due to sperm motility disorder" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/isolated] xref: ICD10CM:N46 {source="Orphanet:276234/attributed", source="Orphanet:276234/ntbt", source="Orphanet:276234"} xref: Orphanet:276234 {source="MONDO:obsoleteEquivalent"} @@ -391504,18 +391582,18 @@ subset: ordo_disorder {source="Orphanet:2764"} subset: orphanet_rare {source="Orphanet:2764"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial osteochondritis dissecans" NARROW [Orphanet:251262] -synonym: "Koenig disease" EXACT [Orphanet:2764] -synonym: "Konig disease" EXACT [Orphanet:2764] +synonym: "familial osteochondritis dissecans" NARROW [] +synonym: "Koenig disease" EXACT [] +synonym: "Konig disease" EXACT [] synonym: "König disease" EXACT [Orphanet:2764] synonym: "OCD" EXACT ABBREVIATION [DOID:84] synonym: "OD" EXACT ABBREVIATION [MONDO:Lexical] -synonym: "osteochondritis dissecans" EXACT [MONDO:ambiguous] +synonym: "osteochondritis dissecans" EXACT [DOID:84, MONDO:ambiguous, NCIT:C34878, Orphanet:2764] synonym: "osteochondritis dissecans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "osteochondritis dissecans and short stature" RELATED [Orphanet:251262] -synonym: "osteochondritis dissecans, short stature, and early-onset osteoarthritis" RELATED [MONDO:Lexical, OMIM:165800] -synonym: "short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans" RELATED [OMIM:165800] -synonym: "SSOAOD" RELATED ABBREVIATION [OMIM:165800] +synonym: "osteochondritis dissecans and short stature" RELATED [] +synonym: "osteochondritis dissecans, short stature, and early-onset osteoarthritis" RELATED [MONDO:Lexical] +synonym: "short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans" RELATED [] +synonym: "SSOAOD" RELATED ABBREVIATION [] xref: DOID:84 {source="MONDO:equivalentTo"} xref: GARD:12703 {source="MONDO:GARD"} xref: HP:0010886 {source="MONDO:otherHierarchy"} @@ -391590,7 +391668,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:276429"} subset: orphanet_rare {source="Orphanet:276429"} subset: rare -synonym: "hypnic headache" EXACT [MONDO:ambiguous] +synonym: "hypnic headache" EXACT [icd11.foundation:468065426, MONDO:ambiguous, Orphanet:276429] synonym: "hypnic headache (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:10796 {source="MONDO:GARD"} xref: HP:0012459 {source="MONDO:otherHierarchy"} @@ -391620,7 +391698,7 @@ synonym: "FHI" EXACT ABBREVIATION [Orphanet:276525] synonym: "hereditary hyperinsulinism (disease)" EXACT [MONDO:patterns/hereditary] synonym: "HHI" EXACT ABBREVIATION [NCIT:C131425] synonym: "hyperinsulinemia of infancy" EXACT [NCIT:C131425] -synonym: "hyperinsulinemic hypoglycemia" BROAD [NCIT:C131425] +synonym: "hyperinsulinemic hypoglycemia" BROAD [] synonym: "neonatal hyperinsulinism" EXACT [NCIT:C131425] synonym: "nesidioblastosis" EXACT [NCIT:C131425] xref: GARD:21053 {source="MONDO:GARD"} @@ -391760,7 +391838,7 @@ subset: ordo_disorder {source="Orphanet:276608"} subset: orphanet_rare {source="Orphanet:276608"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NI-PHH" EXACT [Orphanet:276608] +synonym: "NI-PHH" EXACT [] xref: GARD:21056 {source="MONDO:GARD"} xref: ICD10CM:E16.1 {source="Orphanet:276608/attributed", source="Orphanet:276608/ntbt", source="Orphanet:276608"} xref: MEDGEN:907576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -391836,8 +391914,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:2768"} subset: orphanet_rare {source="Orphanet:2768"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Blount disease" EXACT [DOID:14798] -synonym: "Blount's disease" EXACT [MONDO:0002020] +synonym: "Blount disease" EXACT [DOID:14798, icd11.foundation:138830223, NCIT:C118460, Orphanet:2768] +synonym: "Blount's disease" EXACT [DOID:14798, MONDO:0002020, NCIT:C118460] synonym: "Blount-Barber syndrome" RELATED [GARD:0000916] synonym: "Erlacher-Blount syndrome" RELATED [GARD:0000916] synonym: "familial infantile type osteochondrosis deformans tibiae" EXACT [DOID:14798] @@ -391960,12 +392038,12 @@ subset: rare synonym: "Albers-Schoenberg disease" RELATED [GARD:0004155] synonym: "Albers-Schonberg disease" EXACT [DOID:13533, GARD:0004155] synonym: "marble bone" EXACT [DOID:13533] -synonym: "marble bone disease" EXACT [GARD:0004155] -synonym: "marble bones" EXACT [GARD:0004155] +synonym: "marble bone disease" EXACT [GARD:0004155, icd11.foundation:1498426606] +synonym: "marble bones" EXACT [GARD:0004155, icd11.foundation:1498426606] synonym: "osteopetroses" RELATED [GARD:0004155] -synonym: "osteopetrosis" EXACT [MONDO:ambiguous] +synonym: "osteopetrosis" EXACT [DOID:13533, icd11.foundation:1498426606, MONDO:ambiguous, NCIT:C26840] synonym: "osteopetrosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "osteopetrosis and related disorders" RELATED [Orphanet:2781] +synonym: "osteopetrosis and related disorders" RELATED [] synonym: "osteosclerosis fragilis" RELATED [GARD:0004155] xref: DOID:13533 {source="MONDO:equivalentTo"} xref: GARD:4155 {source="MONDO:GARD"} @@ -392048,7 +392126,7 @@ subset: ordo_clinical_syndrome {source="Orphanet:279882"} subset: ordo_disorder {source="Orphanet:279882"} subset: orphanet_rare {source="Orphanet:279882"} subset: rare -synonym: "Spasmus nutans" EXACT [MONDO:ambiguous] +synonym: "Spasmus nutans" EXACT [icd11.foundation:1868433558, MONDO:ambiguous, Orphanet:279882] synonym: "Spasmus nutans (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:21058 {source="MONDO:GARD"} xref: HP:0010533 {source="MONDO:otherHierarchy"} @@ -392368,7 +392446,7 @@ name: obsolete septopreoptic holoprosencephaly def: "OBSOLETE. Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." [Orphanet:280195] subset: ordo_subtype_of_a_disorder {source="Orphanet:280195"} subset: otar {source="MONDO:OTAR"} -synonym: "Septopreoptic HPE" EXACT [Orphanet:280195] +synonym: "Septopreoptic HPE" EXACT [] xref: ICD10CM:Q04.2 {source="Orphanet:280195/attributed", source="Orphanet:280195/ntbt", source="Orphanet:280195"} xref: Orphanet:280195 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -392391,11 +392469,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:280200"} subset: orphanet_rare {source="Orphanet:280200"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HoloprosencC)phalie, minor form" EXACT [Orphanet:280200] -synonym: "holoprosencephaly-like" EXACT [Orphanet:280200] -synonym: "Holoprosencéphalie, minor form" EXACT [Orphanet:280200] +synonym: "HoloprosencC)phalie, minor form" EXACT [] +synonym: "holoprosencephaly-like" EXACT [icd11.foundation:44293173, Orphanet:280200] +synonym: "Holoprosencéphalie, minor form" EXACT [] synonym: "HPE, minor form" EXACT [Orphanet:280200] -synonym: "HPE-L" EXACT [Orphanet:280200] +synonym: "HPE-L" EXACT ABBREVIATION [Orphanet:280200] synonym: "Microform HPE" EXACT [Orphanet:280200] xref: DOID:0111380 {source="MONDO:equivalentTo"} xref: GARD:17290 {source="MONDO:GARD"} @@ -392552,7 +392630,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:280302"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AIP type 1" EXACT [Orphanet:280302] -synonym: "autoimmune pancreatitis type 1" EXACT [MONDO:0006623] +synonym: "autoimmune pancreatitis type 1" EXACT [MONDO:0006623, Orphanet:280302] synonym: "IgG4-related pancreatitis" EXACT [Orphanet:280302] synonym: "lymphoplasmacytic sclerosing pancreatitis" EXACT [Orphanet:280302] xref: EFO:1000780 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -392599,7 +392677,7 @@ subset: rare synonym: "12p13.33 microdeletion syndrome" EXACT [Orphanet:280325] synonym: "Del(12)(p13.33)" EXACT [Orphanet:280325] synonym: "distal deletion 12p" EXACT [Orphanet:280325] -synonym: "distal monosomy type 12p" EXACT [MONDORULE:4, Orphanet:280325] +synonym: "distal monosomy type 12p" EXACT [MONDORULE:4] xref: GARD:21078 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:280325/attributed", source="Orphanet:280325/ntbt", source="Orphanet:280325"} xref: MEDGEN:1648932 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -392692,7 +392770,7 @@ name: obsolete inherited prion disease def: "OBSOLETE. An instance of prion disease that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_group_of_disorders {source="Orphanet:280400"} subset: otar {source="MONDO:OTAR"} -synonym: "familial prion disease" EXACT [Orphanet:280400] +synonym: "familial prion disease" EXACT [] synonym: "hereditary prion disease" EXACT [MONDO:patterns/hereditary] xref: ICD10CM:A81.8 {source="Orphanet:280400/attributed", source="Orphanet:280400/ntbt", source="Orphanet:280400"} xref: NANDO:1200188 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -392729,8 +392807,8 @@ def: "Inflammation of the glomeruli that is characterized by a rapid loss in ren subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "crescentic glomerulonephritis" RELATED [Orphanet:280569] -synonym: "RPGN" EXACT ABBREVIATION [Orphanet:280569] +synonym: "crescentic glomerulonephritis" RELATED [] +synonym: "RPGN" EXACT ABBREVIATION [NCIT:C35264] xref: DOID:4776 {source="MONDO:equivalentTo"} xref: ICD10CM:N01 {source="Orphanet:280569", source="DOID:4776", source="Orphanet:280569/ntbt", source="Orphanet:280569/inclusion"} xref: ICD9:580.4 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -392828,9 +392906,9 @@ name: obsolete AP4-related intellectual disability and spastic paraplegia def: "OBSOLETE. A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene." [https://www.clinicalgenome.org/affiliation/40006/, PMID:29193663, PMID:29430868, PMID:30543385, PMID:321171285] subset: ordo_disorder {source="Orphanet:280763"} subset: otar {source="MONDO:OTAR"} -synonym: "AP4 deficiency syndrome" EXACT [Orphanet:280763] +synonym: "AP4 deficiency syndrome" EXACT [] synonym: "AP4 related intellectual disability and spastic paraplegia" EXACT [https://github.com/monarch-initiative/mondo/issues/1728] -synonym: "severe intellectual disability and progressive spastic paraplegia" NARROW [Orphanet:280763] +synonym: "severe intellectual disability and progressive spastic paraplegia" NARROW [] xref: Orphanet:280763 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -393061,8 +393139,8 @@ subset: gard_rare {source="GARD:8577", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:280898"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diffuse uveitis" EXACT [DOID:12030] -synonym: "panuveitis" EXACT [MONDO:ambiguous] +synonym: "diffuse uveitis" EXACT [DOID:12030, icd11.foundation:1125547814] +synonym: "panuveitis" EXACT [DOID:12030, icd11.foundation:1125547814, MONDO:ambiguous, NCIT:C84989, Orphanet:280898] synonym: "panuveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "total uveitis" EXACT [Orphanet:280898] xref: DOID:12030 {source="MONDO:equivalentTo", source="EFO:1001082"} @@ -393224,9 +393302,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "recessive X-linked ichthyosis with extracutaneous manifestations" EXACT [Orphanet:281090] synonym: "syndrome associated with recessive X-linked ichthyosis" EXACT [MONDO:patterns/syndromic] -synonym: "syndromic recessive X-linked ichthyosis" EXACT [MONDO:patterns/syndromic] +synonym: "syndromic recessive X-linked ichthyosis" EXACT [MONDO:patterns/syndromic, Orphanet:281090] synonym: "syndromic RXLI" EXACT [Orphanet:281090] -synonym: "syndromic X-linked ichthyosis" EXACT [Orphanet:281090] +synonym: "syndromic X-linked ichthyosis" EXACT [] xref: GARD:17302 {source="MONDO:GARD"} xref: ICD10CM:Q80.1 {source="Orphanet:281090/attributed", source="Orphanet:281090/ntbt", source="Orphanet:281090"} xref: MEDGEN:904038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -393304,7 +393382,7 @@ subset: ordo_disorder {source="Orphanet:281122"} subset: orphanet_rare {source="Orphanet:281122"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "self-improving collodion baby" RELATED [Orphanet:281122] +synonym: "self-improving collodion baby" RELATED [] synonym: "self-improving congenital ichthyosis" EXACT [Orphanet:281122] synonym: "SHCB" EXACT ABBREVIATION [Orphanet:281122] synonym: "SICI" EXACT ABBREVIATION [Orphanet:281122] @@ -393386,7 +393464,7 @@ id: MONDO:0017272 name: obsolete autosomal ichthyosis syndrome with prominent neurologics signs comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited ichthyosis' subset: ordo_group_of_disorders {source="Orphanet:281238"} -synonym: "autosomal ichthyosis syndrome with prominent neurologic signs" RELATED [Orphanet:281238] +synonym: "autosomal ichthyosis syndrome with prominent neurologic signs" RELATED [] xref: Orphanet:281238 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -393478,7 +393556,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:21115", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:282124"} subset: rare -synonym: "partial deletion of chromosome type 12" EXACT [MONDORULE:2, Orphanet:282124] +synonym: "partial deletion of chromosome type 12" EXACT [MONDORULE:2] synonym: "partial monosomy of chromosome 12" EXACT [Orphanet:282124] xref: GARD:21115 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:282124", source="Orphanet:282124/attributed", source="Orphanet:282124/ntbt"} @@ -393501,12 +393579,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Antiphospholipid Syndrome" EXACT [NORD:790] synonym: "APS" EXACT ABBREVIATION [Orphanet:282196] -synonym: "autoimmune polyendocrine syndrome" EXACT [DOID:14040] -synonym: "autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome" EXACT [NCIT:C129726] -synonym: "autoimmune polyendocrinopathy" EXACT [DOID:14040, NCIT:C84576] +synonym: "autoimmune polyendocrine syndrome" EXACT [DOID:14040, NCIT:C129726] +synonym: "autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome" EXACT [] +synonym: "autoimmune polyendocrinopathy" EXACT [DOID:14040, icd11.foundation:548357900, NCIT:C84576, Orphanet:282196] synonym: "autoimmune polyendocrinopathy syndrome" EXACT [MONDO:0001865, NCIT:C84576] -synonym: "autoimmune polyglandular failure" EXACT [DOID:14040] -synonym: "autoimmune polyglandular syndrome" EXACT [Orphanet:282196] +synonym: "autoimmune polyglandular failure" EXACT [DOID:14040, ICD10CM:E31.0, icd11.foundation:548357900] +synonym: "autoimmune polyglandular syndrome" EXACT [icd11.foundation:548357900, NCIT:C129726, Orphanet:282196] synonym: "autoimmune polyglandular syndrome(s)" EXACT [NCIT:C129726] synonym: "Lloyd's syndrome" EXACT [DOID:14040] xref: DOID:14040 {source="MONDO:equivalentTo"} @@ -393540,8 +393618,8 @@ subset: ordo_disorder {source="Orphanet:2828"} subset: orphanet_rare {source="Orphanet:2828"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "early-onset Parkinson disease" EXACT [Orphanet:2828] -synonym: "early-onset Parkinson's disease" RELATED [DOID:0060894] +synonym: "early-onset Parkinson disease" EXACT [DOID:0060894, Orphanet:2828] +synonym: "early-onset Parkinson's disease" RELATED [] synonym: "YOPD" EXACT ABBREVIATION [Orphanet:2828] xref: DOID:0060894 {source="MONDO:equivalentTo"} xref: GARD:16610 {source="MONDO:GARD"} @@ -393570,7 +393648,7 @@ synonym: "demodectic mange" EXACT NON_HUMAN [https://en.wikipedia.org/wiki/Demod synonym: "Demodex caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Demodex disease or disorder" EXACT [] synonym: "Demodex infectious disease" EXACT [] -synonym: "Demodicosis" EXACT [Orphanet:283] +synonym: "Demodicosis" EXACT [icd11.foundation:1473144548, Orphanet:283] synonym: "red mange" EXACT NON_HUMAN [https://en.wikipedia.org/wiki/Demodicosis] xref: GARD:1802 {source="MONDO:GARD"} xref: ICD10CM:B88.0 {source="Orphanet:283", source="Orphanet:283/ntbt"} @@ -393698,7 +393776,7 @@ subset: orphanet_rare {source="Orphanet:2842"} subset: rare synonym: "congenital penoscrotal transposition" EXACT [NCIT:C99010] synonym: "congenital transposition of the penis" RELATED [GARD:0004273] -synonym: "penoscrotal transposition" EXACT [MONDO:ambiguous] +synonym: "penoscrotal transposition" EXACT [icd11.foundation:1417779551, MONDO:ambiguous, NCIT:C99010, Orphanet:2842] synonym: "penoscrotal transposition (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Prepenile scrotum" RELATED [GARD:0004273] xref: GARD:4273 {source="MONDO:GARD"} @@ -393754,10 +393832,10 @@ subset: rare synonym: "hyper-IgG4 disease" RELATED [GARD:0012521] synonym: "IgG4-associated disease" RELATED [GARD:0012521] synonym: "IgG4-positive multiorgan lymphoproliferative syndrome" RELATED [GARD:0012521] -synonym: "IgG4-RD" EXACT ABBREVIATION [Orphanet:596448] +synonym: "IgG4-RD" EXACT ABBREVIATION [] synonym: "IgG4-related autoimmune disease" RELATED [GARD:0012521] -synonym: "IgG4-related sclerosing disease" EXACT [Orphanet:284264] -synonym: "IgG4-related systemic disease" EXACT [Orphanet:284264] +synonym: "IgG4-related sclerosing disease" EXACT [NCIT:C95992, Orphanet:284264] +synonym: "IgG4-related systemic disease" EXACT [Orphanet:596448] synonym: "IgG4-related systemic sclerosing disease" RELATED [GARD:0012521] synonym: "IgG4-syndrome" RELATED [GARD:0012521] synonym: "Immunoglobulin G4-related sclerosing disease" EXACT [Orphanet:284264] @@ -393797,7 +393875,8 @@ subset: gard_rare {source="GARD:21118", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:284362"} subset: rare -synonym: "flit" EXACT [Orphanet:284362] +synonym: "FLIT" EXACT ABBREVIATION [Orphanet:284362] +synonym: "flit" EXACT [] synonym: "immature interstitial mesenchymal tumor" EXACT [Orphanet:284362] synonym: "immature interstitial mesenchymal tumour" EXACT OMO:0003005 [] xref: GARD:21118 {source="MONDO:GARD"} @@ -393946,8 +394025,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:284448"} subset: orphanet_rare {source="Orphanet:284448"} subset: rare -synonym: "chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids" EXACT [Orphanet:284448] -synonym: "CLIPPERS" EXACT [Orphanet:284448] +synonym: "chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids" EXACT [icd11.foundation:913443626, Orphanet:284448] +synonym: "CLIPPERS" EXACT ABBREVIATION [Orphanet:284448] xref: GARD:10779 {source="MONDO:GARD"} xref: icd11.foundation:913443626 {source="MONDO:equivalentTo"} xref: MEDGEN:1433964 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -394064,9 +394143,9 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1516"} subset: ordo_group_of_disorders {source="Orphanet:284804"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ocular albinism" EXACT [MONDO:ambiguous] +synonym: "ocular albinism" EXACT [DOID:0050633, icd11.foundation:1147926040, MONDO:ambiguous, Orphanet:284804] synonym: "ocular albinism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "XLOA" NARROW ABBREVIATION [Orphanet:54] +synonym: "XLOA" NARROW ABBREVIATION [] xref: DOID:0050633 {source="MONDO:equivalentTo"} xref: GARD:21124 {source="MONDO:GARD"} xref: HP:0001107 {source="MONDO:otherHierarchy"} @@ -394095,7 +394174,7 @@ subset: gard_rare {source="GARD:21125", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:284811"} subset: rare synonym: "syndrome associated with oculocutaneous albinism" EXACT [MONDO:patterns/syndromic] -synonym: "syndromic oculocutaneous albinism" EXACT [MONDO:patterns/syndromic] +synonym: "syndromic oculocutaneous albinism" EXACT [MONDO:patterns/syndromic, Orphanet:284811] xref: GARD:21125 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:284811/attributed", source="Orphanet:284811/ntbt", source="Orphanet:284811"} xref: MEDGEN:1843078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -394151,8 +394230,8 @@ name: obsolete Marfan syndrome type 2 def: "OBSOLETE. Hypothesized form of Marfan; dubious" [https://github.com/monarch-initiative/monarch-disease-ontology/issues/101] subset: ordo_subtype_of_a_disorder {source="Orphanet:284973"} subset: speculative -synonym: "Marfan syndrome type II" EXACT [NCIT:C75007] -synonym: "MFS2" EXACT ABBREVIATION [Orphanet:284973] +synonym: "Marfan syndrome type II" EXACT [] +synonym: "MFS2" EXACT ABBREVIATION [] xref: ICD10CM:Q87.4 {source="Orphanet:284973", source="Orphanet:284973/attributed", source="Orphanet:284973/ntbt"} xref: MESH:C535911 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C75007 {source="MONDO:obsoleteEquivalentObsolete"} @@ -394222,7 +394301,7 @@ subset: orphanet_rare {source="Orphanet:2855"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "gonadal dysgenesis, XX type, with deafness" RELATED [GARD:0002542] -synonym: "Perrault syndrome" EXACT CLINGEN_LABEL [] +synonym: "Perrault syndrome" EXACT CLINGEN_LABEL [DOID:0050857, icd11.foundation:256968598, OMIMPS:233400, Orphanet:2855] synonym: "XX gonodal dysgenesis-deafness syndrome" EXACT [Orphanet:2855] xref: DOID:0050857 {source="MONDO:equivalentTo"} xref: GARD:2542 {source="MONDO:GARD"} @@ -394268,19 +394347,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "EDS IV" EXACT [Orphanet:286] synonym: "EDS IV (formerly)" RELATED [GARD:0002082] -synonym: "EDS type 4" EXACT [Orphanet:286] +synonym: "EDS type 4" EXACT [] synonym: "EDS type 4 (formerly)" RELATED [GARD:0002082] synonym: "EDS4 (formerly)" RELATED [GARD:0002082] synonym: "Ehlers Danlos syndrome, arterial type" RELATED [GARD:0002082] synonym: "Ehlers Danlos syndrome, ecchymotic type" RELATED [GARD:0002082] synonym: "Ehlers Danlos syndrome, sack-Barabas type" RELATED [GARD:0002082] -synonym: "Ehlers-Danlos syndrome type 4" EXACT [Orphanet:286] +synonym: "Ehlers-Danlos syndrome type 4" EXACT [icd11.foundation:1202686415, Orphanet:286] synonym: "Ehlers-Danlos syndrome type 4 (formerly)" RELATED [GARD:0002082] -synonym: "Ehlers-Danlos syndrome type IV" EXACT [Orphanet:286] +synonym: "Ehlers-Danlos syndrome type IV" EXACT [] synonym: "Ehlers-Danlos syndrome type IV (formerly)" RELATED [GARD:0002082] synonym: "Ehlers-Danlos syndrome, type IV" EXACT [NCIT:C125699] -synonym: "Ehlers-Danlos syndrome, vascular type" EXACT CLINGEN_LABEL [] -synonym: "sack-Barabas syndrome" EXACT [Orphanet:286] +synonym: "Ehlers-Danlos syndrome, vascular type" EXACT CLINGEN_LABEL [icd11.foundation:1202686415] +synonym: "sack-Barabas syndrome" EXACT [icd11.foundation:1202686415, Orphanet:286] synonym: "vascular EDS" RELATED [GARD:0002082] synonym: "vascular Ehlers-Danlos syndrome" RELATED [GARD:0002082] synonym: "vEDS" RELATED [GARD:0002082] @@ -394383,7 +394462,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "association of cutaneous vascular malformations and different pigmentary disorders" RELATED [GARD:0004312] synonym: "Phacomatosis pigmentovascularis" RELATED [GARD:0004312] -synonym: "phakomatosis pigmentovascularis" EXACT [] +synonym: "phakomatosis pigmentovascularis" EXACT [icd11.foundation:1768130414, Orphanet:2875] synonym: "port-wine stain with oculocutaneous melanosis" EXACT [] synonym: "PPv" RELATED [GARD:0004312] xref: GARD:4312 {source="MONDO:GARD"} @@ -394411,11 +394490,11 @@ subset: ordo_disorder {source="Orphanet:288"} subset: orphanet_rare {source="Orphanet:288"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital elliptocytosis" EXACT [DOID:2373] +synonym: "congenital elliptocytosis" EXACT [DOID:2373, icd11.foundation:679955609] synonym: "Hashimoto Encephalopathy" EXACT [NORD:1935] -synonym: "HE" EXACT [Orphanet:288] -synonym: "hereditary ovalocytosis" EXACT [NCIT:C35882] -synonym: "ovalocytosis" EXACT [DOID:2373] +synonym: "HE" EXACT ABBREVIATION [Orphanet:288] +synonym: "hereditary ovalocytosis" EXACT [icd11.foundation:679955609, NCIT:C35882] +synonym: "ovalocytosis" EXACT [DOID:2373, ICD10CM:D58.1, icd11.foundation:679955609] xref: DOID:2373 {source="MONDO:equivalentTo"} xref: GARD:6621 {source="MONDO:GARD"} xref: ICD10CM:D58.1 {source="Orphanet:288/specific", source="DOID:2373", source="Orphanet:288/e", source="MONDO:equivalentTo", source="Orphanet:288"} @@ -394557,7 +394636,7 @@ subset: ordo_disorder {source="Orphanet:289266"} subset: orphanet_rare {source="Orphanet:289266"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" EXACT CLINGEN_LABEL [] +synonym: "early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" EXACT CLINGEN_LABEL [icd11.foundation:1655554340, Orphanet:289266] xref: GARD:21134 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:289266", source="Orphanet:289266/attributed", source="Orphanet:289266/ntbt"} xref: icd11.foundation:1655554340 {source="MONDO:equivalentTo"} @@ -394578,7 +394657,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:289347"} subset: orphanet_rare {source="Orphanet:289347"} subset: rare -synonym: "IDH" EXACT ABBREVIATION [Orphanet:289347] +synonym: "IDH" EXACT ABBREVIATION [NCIT:C129260, Orphanet:289347] synonym: "IDH Gene family" EXACT [NCIT:C129260] synonym: "infective dermatitis associated with human T-lymphotropic virus type 1" EXACT [Orphanet:289347] synonym: "infective dermatitis associated with human T-lymphotropic virus type I" EXACT [Orphanet:289347] @@ -394755,9 +394834,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0017336 name: obsolete fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency -synonym: "fatal infantile HCM due to mitochondrial complex I deficiency" EXACT [Orphanet:289527] -synonym: "fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency" EXACT [Orphanet:289527] -synonym: "fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency" EXACT [Orphanet:289527] +synonym: "fatal infantile HCM due to mitochondrial complex I deficiency" EXACT [] +synonym: "fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency" EXACT [] +synonym: "fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency" EXACT [] xref: Orphanet:289527 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6391" xsd:anyURI @@ -394794,7 +394873,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fatal multiple mitochondrial dysfunction syndrome" RELATED [GARD:0012632] synonym: "MMDS" RELATED ABBREVIATION [MONDO:Lexical] -synonym: "multiple mitochondrial dysfunctions syndrome" EXACT [Orphanet:289573] +synonym: "multiple mitochondrial dysfunctions syndrome" EXACT [DOID:0070330, OMIMPS:605711, Orphanet:289573] xref: DOID:0070330 {source="MONDO:equivalentTo"} xref: GARD:12632 {source="MONDO:GARD"} xref: MEDGEN:502474 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -394819,7 +394898,7 @@ subset: orphanet_rare {source="Orphanet:289586"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive exfoliative ichthyosis" EXACT [Orphanet:289586] -synonym: "exfoliative ichthyosis" EXACT CLINGEN_LABEL [] +synonym: "exfoliative ichthyosis" EXACT CLINGEN_LABEL [Orphanet:289586] synonym: "ichthyosis exfoliativa" EXACT [Orphanet:289586] xref: GARD:17329 {source="MONDO:GARD"} xref: ICD10CM:Q80.8 {source="Orphanet:289586/attributed", source="Orphanet:289586/ntbt", source="Orphanet:289586"} @@ -394839,7 +394918,7 @@ subset: ordo_disorder {source="Orphanet:289596"} subset: orphanet_rare {source="Orphanet:289596"} subset: rare synonym: "JNA" EXACT ABBREVIATION [Orphanet:289596] -synonym: "juvenile nasopharyngeal angiofibroma" EXACT [MONDO:ambiguous] +synonym: "juvenile nasopharyngeal angiofibroma" EXACT [MONDO:ambiguous, Orphanet:289596] synonym: "juvenile nasopharyngeal angiofibroma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "nasopharyngeal angiofibroma" EXACT [NCIT:C27479] synonym: "nasopharyngeal juvenile angiofibroma" EXACT [NCIT:C27479] @@ -394945,12 +395024,12 @@ subset: rare synonym: "age-related EBV Positive B-cell lymphoproliferative disorder" EXACT [NCIT:C80281] synonym: "EBV Positive diffuse large B-cell lymphoma of the elderly" EXACT [NCIT:C80281] synonym: "EBV-Positive diffuse large B-cell lymphoma, NOS" EXACT [NCIT:C80281] -synonym: "EBV-positive diffuse large B-cell lymphoma, not otherwise specified" RELATED EXCLUDE [NCIT:C80281] -synonym: "EBV-positive DLBCL of the elderly" EXACT [Orphanet:289661] -synonym: "EBV-positive DLBCL, NOS" RELATED EXCLUDE [NCIT:C80281] +synonym: "EBV-positive diffuse large B-cell lymphoma, not otherwise specified" RELATED EXCLUDE [] +synonym: "EBV-positive DLBCL of the elderly" EXACT [] +synonym: "EBV-positive DLBCL, NOS" RELATED EXCLUDE [] synonym: "Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly" EXACT [NCIT:C80281] -synonym: "Epstein-Barr Virus Positive DLBCL, NOS" RELATED EXCLUDE [NCIT:C80281] -synonym: "Epstein-Barr Virus-positive diffuse large B-cell lymphoma, not otherwise specified" RELATED EXCLUDE [NCIT:C80281] +synonym: "Epstein-Barr Virus Positive DLBCL, NOS" RELATED EXCLUDE [] +synonym: "Epstein-Barr Virus-positive diffuse large B-cell lymphoma, not otherwise specified" RELATED EXCLUDE [] synonym: "Senile EBV-associated B-cell lymphoproliferative disorder" EXACT [NCIT:C80281] xref: GARD:21150 {source="MONDO:GARD"} xref: ICD10CM:C83.3 {source="Orphanet:289661", source="Orphanet:289661/ntbt"} @@ -394973,8 +395052,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:289666"} subset: orphanet_rare {source="Orphanet:289666"} subset: rare -synonym: "PBL" EXACT ABBREVIATION [Orphanet:289666] -synonym: "Plasmablastic lymphoma" EXACT [NCIT:C7224] +synonym: "PBL" EXACT ABBREVIATION [NCIT:C7224, Orphanet:289666] +synonym: "Plasmablastic lymphoma" EXACT [DOID:0080779, icd11.foundation:803046659, NCIT:C7224, Orphanet:289666] synonym: "PLBL" RELATED ABBREVIATION [ONCOTREE:PLBL] xref: DOID:0080779 {source="MONDO:equivalentTo"} xref: GARD:12125 {source="MONDO:GARD"} @@ -395018,7 +395097,7 @@ subset: ordo_disorder {source="Orphanet:289685"} subset: orphanet_rare {source="Orphanet:289685"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hemangiopericytoma" RELATED [NCIT:C50401] +synonym: "hemangiopericytoma" RELATED [] synonym: "MPC" RELATED ABBREVIATION [ONCOTREE:MPC] synonym: "solitary myofibroma" EXACT [NCIT:C50401] xref: GARD:21152 {source="MONDO:GARD"} @@ -395040,7 +395119,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:21154", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:289829"} subset: rare -synonym: "disorder of tryptophan metabolism" RELATED [Orphanet:289829] +synonym: "disorder of tryptophan metabolism" RELATED [] synonym: "inborn error of tryptophan metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn tryptophan metabolic process disorder" EXACT [] synonym: "rare inborn error of tryptophan metabolic process" EXACT [MONDO:patterns/inborn_metabolic] @@ -395065,7 +395144,7 @@ subset: gard_rare {source="GARD:21155", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:289832"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "disorder of lysine and hydroxylysine metabolism" RELATED [Orphanet:289832] +synonym: "disorder of lysine and hydroxylysine metabolism" RELATED [] xref: GARD:21155 {source="MONDO:GARD"} xref: ICD10CM:E72.3 {source="MONDO:equivalentTo", source="Orphanet:289832", source="Orphanet:289832/specific", source="Orphanet:289832/e"} xref: icd11.foundation:367868681 {source="MONDO:equivalentTo", source="Orphanet:289832", source="https://orcid.org/0000-0002-4142-7153"} @@ -395268,8 +395347,8 @@ subset: ordo_disorder {source="Orphanet:290"} subset: orphanet_rare {source="Orphanet:290"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital rubella" EXACT [MONDO:patterns/congenital] -synonym: "congenital rubella syndrome" EXACT [NCIT:C34992] +synonym: "congenital rubella" EXACT [MONDO:patterns/congenital, NCIT:C34992] +synonym: "congenital rubella syndrome" EXACT [ICD10CM:P35.0, icd11.foundation:1059053724, NCIT:C34992, Orphanet:290] synonym: "CRS" EXACT ABBREVIATION [Orphanet:290] synonym: "fetal rubella syndrome" EXACT [Orphanet:290] synonym: "foetal rubella syndrome" EXACT OMO:0003005 [] @@ -395311,10 +395390,10 @@ subset: orphanet_rare {source="Orphanet:2901"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute brachial plexus neuritis" EXACT [Orphanet:2901] -synonym: "brachial plexus neuritis" BROAD [Orphanet:2901] +synonym: "brachial plexus neuritis" BROAD [] synonym: "immune brachial plexus neuropathy" EXACT [Orphanet:2901] synonym: "mononeuritis multiplex with brachial predilection" EXACT [Orphanet:2901] -synonym: "neuralgic shoulder amyotrophy" EXACT [Orphanet:2901] +synonym: "neuralgic shoulder amyotrophy" EXACT [icd11.foundation:302246011, Orphanet:2901] synonym: "Parsonage Turner Syndrome" EXACT [NORD:1560] xref: GARD:4228 {source="MONDO:GARD"} xref: ICD10CM:G54.5 {source="Orphanet:2901/ntbt", source="Orphanet:2901"} @@ -395339,8 +395418,8 @@ subset: rare synonym: "Carrington syndrome" RELATED [GARD:0001130] synonym: "Carrington's disease" RELATED [GARD:0001130] synonym: "Carrington's pulmonary eosinophilia" RELATED [GARD:0001130] -synonym: "Chronic Eosinophilic Pneumonia" EXACT [NORD:967] -synonym: "chronic eosinophilic pneumonia" BROAD [Orphanet:2902] +synonym: "Chronic Eosinophilic Pneumonia" EXACT [NORD:967, Orphanet:2902] +synonym: "chronic eosinophilic pneumonia" BROAD [] synonym: "chronic eosinophilic pneumonia (CEP)" RELATED [GARD:0001130] synonym: "chronic idiopathic eosinophilic pneumonia" RELATED [GARD:0001130] synonym: "eosinophilic idiopathic chronic pneumopathy" RELATED [GARD:0001130] @@ -395367,10 +395446,10 @@ subset: ordo_disorder {source="Orphanet:2905"} subset: orphanet_rare {source="Orphanet:2905"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Crow-Fukase syndrome" EXACT [Orphanet:2905] -synonym: "osteosclerotic myeloma" EXACT [Orphanet:2905] +synonym: "Crow-Fukase syndrome" EXACT [NCIT:C80303, Orphanet:2905] +synonym: "osteosclerotic myeloma" EXACT [icd11.foundation:1555299114, Orphanet:2905] synonym: "PEP syndrome" EXACT [Orphanet:2905] -synonym: "POEMS syndrome" EXACT [NCIT:C80303] +synonym: "POEMS syndrome" EXACT [DOID:14039, icd11.foundation:1555299114, NCIT:C80303, Orphanet:2905] synonym: "polyneuropathy organomegaly" RELATED [GARD:0007411] synonym: "polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome" RELATED [GARD:0007411] synonym: "polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome" EXACT [Orphanet:2905] @@ -395405,7 +395484,7 @@ subset: ordo_disorder {source="Orphanet:2907"} subset: orphanet_rare {source="Orphanet:2907"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital poikiloderma with bullae, Weary type" EXACT [Orphanet:2907] +synonym: "congenital poikiloderma with bullae, Weary type" EXACT [] xref: GARD:18781 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:2907", source="Orphanet:2907/attributed", source="Orphanet:2907/ntbt"} xref: icd11.foundation:837824031 {source="MONDO:equivalentTo"} @@ -395427,7 +395506,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial pheochromocytoma-paraganglioma" EXACT [Orphanet:29072] synonym: "hereditary paraganglioma-pheochromocytoma" RELATED [GARD:0011984] -synonym: "hereditary pheochromocytoma-paraganglioma" EXACT CLINGEN_LABEL [] +synonym: "hereditary pheochromocytoma-paraganglioma" EXACT CLINGEN_LABEL [Orphanet:29072] synonym: "SDHx-related paraganglioma-pheochromocytoma" RELATED [GARD:0011984] xref: GARD:11984 {source="MONDO:GARD"} xref: ICD10CM:C74.1 {source="Orphanet:29072", source="Orphanet:29072/attributed", source="Orphanet:29072/ntbt"} @@ -395542,11 +395621,11 @@ subset: ordo_disorder {source="Orphanet:2912"} subset: orphanet_rare {source="Orphanet:2912"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acute poliomyelitis" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C35550] +synonym: "acute poliomyelitis" EXACT [https://orcid.org/0000-0002-6601-2165, icd11.foundation:588527933, NCIT:C35550] synonym: "infantile paralysis" RELATED [GARD:0007413] synonym: "Polia" EXACT [NCIT:C35550] synonym: "polio" EXACT [MESH:D011051, NCIT:C35550] -synonym: "poliomyelitis" EXACT [MONDO:0005926, NCIT:C35550] +synonym: "poliomyelitis" EXACT [DOID:4953, MONDO:0005926, NCIT:C35550, Orphanet:2912] xref: DOID:4953 {source="MONDO:equivalentTo", source="EFO:0007450"} xref: EFO:0007450 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7413 {source="MONDO:GARD"} @@ -395609,7 +395688,7 @@ subset: orphanet_rare {source="Orphanet:292"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "antenatal enterovirus infection" EXACT [Orphanet:292] -synonym: "congenital enterovirus infection" EXACT [] +synonym: "congenital enterovirus infection" EXACT [icd11.foundation:1981771784, Orphanet:292] synonym: "congenital enterovirus infectious disease" EXACT [MONDO:design_pattern, MONDO:patterns/congenital] synonym: "congenital infection caused by enterovirus" EXACT [] synonym: "mother-to-child transmission of enterovirus infection" EXACT [Orphanet:292] @@ -395637,16 +395716,16 @@ subset: rare synonym: "arthritis urethritica" EXACT [Orphanet:29207] synonym: "Fiessinger Leroy Reiter syndrome" EXACT DEPRECATED [DOID:6196] synonym: "Fiessinger-Leroy disease" EXACT [Orphanet:29207] -synonym: "Fiessinger-Leroy-Reiter syndrome" EXACT DEPRECATED [Orphanet:29207] +synonym: "Fiessinger-Leroy-Reiter syndrome" EXACT DEPRECATED [] synonym: "PIRA" RELATED ABBREVIATION [GARD:0005693] synonym: "polyarthritis enterica" EXACT [Orphanet:29207] synonym: "post-bacterial arthropathy" EXACT [DOID:6196] synonym: "post-infectious arthritis" RELATED [GARD:0005693] synonym: "post-infectious reactive arthropathy" RELATED [GARD:0005693] synonym: "postdysenteric arthropathy" EXACT [DOID:6196] -synonym: "reactive arthritis" EXACT [DOID:6196] -synonym: "Reiter disease" EXACT DEPRECATED [DOID:6196, Orphanet:29207] -synonym: "Reiter syndrome" EXACT DEPRECATED [Orphanet:29207] +synonym: "reactive arthritis" EXACT [DOID:6196, NCIT:C128332, Orphanet:29207] +synonym: "Reiter disease" EXACT DEPRECATED [DOID:6196] +synonym: "Reiter syndrome" EXACT DEPRECATED [] synonym: "Reiter's disease" EXACT DEPRECATED [DOID:6196, ICD9CM:099.3] synonym: "Reiter's syndrome" EXACT DEPRECATED [GARD:0005693] synonym: "venereal arthritis" EXACT [Orphanet:29207] @@ -395755,16 +395834,17 @@ subset: orphanet_rare {source="Orphanet:2929"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "JIP" EXACT ABBREVIATION [Orphanet:2929] -synonym: "jPS" EXACT [Orphanet:2929] +synonym: "JPS" EXACT ABBREVIATION [OMIM:174900, Orphanet:2929] +synonym: "jPS" EXACT [] synonym: "juvenile gastrointestinal polyposis" EXACT [Orphanet:2929] -synonym: "juvenile intestinal polyposis" EXACT [Orphanet:2929] +synonym: "juvenile intestinal polyposis" EXACT [OMIM:174900, Orphanet:2929] synonym: "juvenile multiple polyps syndrome" EXACT [NCIT:C7754] synonym: "juvenile polyposis" EXACT [NCIT:C7754] -synonym: "juvenile polyposis syndrome" EXACT CLINGEN_LABEL [NCIT:C7754] +synonym: "juvenile polyposis syndrome" EXACT CLINGEN_LABEL [NCIT:C7754, OMIM:174900, Orphanet:2929] synonym: "PJI" RELATED ABBREVIATION [GARD:0003065] synonym: "polyposis familial of entire gastrointestinal tract" RELATED [GARD:0003065] synonym: "polyposis juvenile intestinal" RELATED [GARD:0003065] -synonym: "polyposis, juvenile intestinal" EXACT [OMIM:174900, OMIM:genemap2] +synonym: "polyposis, juvenile intestinal" EXACT [OMIM:174900] xref: GARD:3065 {source="MONDO:GARD"} xref: ICD10CM:D12.6 {source="Orphanet:2929", source="Orphanet:2929/attributed", source="Orphanet:2929/ntbt"} xref: MEDGEN:87518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -395893,9 +395973,9 @@ synonym: "migrating partial epilepsy of infancy" EXACT [Orphanet:293181] synonym: "migrating Partial seizures in infancy" EXACT [NCIT:C125387] synonym: "migrating partial seizures of infancy" EXACT [Orphanet:293181] synonym: "MMPEI" EXACT ABBREVIATION [Orphanet:293181] -synonym: "MMPSI" EXACT ABBREVIATION [Orphanet:293181] +synonym: "MMPSI" EXACT ABBREVIATION [NCIT:C125387, Orphanet:293181] synonym: "MPEI" EXACT ABBREVIATION [Orphanet:293181] -synonym: "MPSI" BROAD ABBREVIATION [Orphanet:293181] +synonym: "MPSI" BROAD ABBREVIATION [] xref: GARD:12919 {source="MONDO:GARD"} xref: icd11.foundation:1727727812 {source="Orphanet:293181", source="https://orcid.org/0000-0002-4142-7153"} xref: MEDGEN:782160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -395915,8 +395995,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:293199"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anaplastic rhabdomyosarcoma" EXACT [DOID:3250, NCIT:C4258] -synonym: "pleomorphic rhabdomyosarcoma" EXACT [NCIT:C4258] +synonym: "anaplastic rhabdomyosarcoma" EXACT [DOID:3250] +synonym: "pleomorphic rhabdomyosarcoma" EXACT [DOID:3250, NCIT:C4258, Orphanet:293199] synonym: "pleomorphic rhabdomyosarcoma, adult type" EXACT [DOID:3250] xref: DOID:3250 {source="MONDO:equivalentTo"} xref: GARD:21165 {source="MONDO:GARD"} @@ -395942,7 +396022,7 @@ subset: orphanet_rare {source="Orphanet:293202"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "epithelioid cell sarcoma" EXACT [DOID:6193, NCIT:C3714] -synonym: "epithelioid sarcoma" EXACT [NCIT:C3714] +synonym: "epithelioid sarcoma" EXACT [DOID:6193, NCIT:C3714, Orphanet:293202] synonym: "ES" EXACT ABBREVIATION [NCIT:C3714] xref: DOID:6193 {source="MONDO:equivalentTo"} xref: GARD:10181 {source="MONDO:GARD"} @@ -395969,7 +396049,7 @@ subset: ordo_disorder {source="Orphanet:293208"} subset: orphanet_rare {source="Orphanet:293208"} subset: rare synonym: "Dunbar syndrome" EXACT [Orphanet:293208] -synonym: "Median Arcuate Ligament Syndrome" EXACT [NORD:1957] +synonym: "Median Arcuate Ligament Syndrome" EXACT [NORD:1957, Orphanet:293208] xref: GARD:12308 {source="MONDO:GARD"} xref: ICD10CM:I77.4 {source="Orphanet:293208", source="Orphanet:293208/e"} xref: icd11.foundation:1666443751 {source="Orphanet:293208", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -396009,7 +396089,7 @@ def: "OBSOLETE. Methylmalonic acidemia is an inborn error of vitamin B12 metabol comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: methylmalonic acidemia' subset: ordo_group_of_disorders {source="Orphanet:293355"} synonym: "methylmalonic acidemia without homocystinuria" EXACT CLINGEN_LABEL [] -synonym: "methylmalonic aciduria without homocystinuria" EXACT [Orphanet:293355] +synonym: "methylmalonic aciduria without homocystinuria" EXACT [] xref: ICD10CM:E71.1 {source="Orphanet:293355", source="Orphanet:293355/attributed", source="Orphanet:293355/ntbt"} xref: Orphanet:293355 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -396107,7 +396187,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:293812"} subset: orphanet_rare {source="Orphanet:293812"} subset: rare -synonym: "fixed drug eruption" EXACT [Orphanet:293812, PMID:9431719] +synonym: "fixed drug eruption" EXACT [icd11.foundation:20014644, Orphanet:293812, PMID:9431719] xref: GARD:21170 {source="MONDO:GARD"} xref: icd11.foundation:20014644 {source="MONDO:equivalentTo", source="Orphanet:293812", source="https://orcid.org/0000-0002-4142-7153"} xref: MedDRA:10048796 {source="Orphanet:293812/e", source="Orphanet:293812"} @@ -396179,8 +396259,8 @@ def: "Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotempor subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RTLA" EXACT ABBREVIATION [Orphanet:293848] -synonym: "rvFTD" EXACT [Orphanet:293848] +synonym: "RTLA" EXACT ABBREVIATION [] +synonym: "rvFTD" EXACT [] xref: ICD10CM:G31.0 {source="Orphanet:293848/attributed", source="Orphanet:293848/ntbt", source="Orphanet:293848"} xref: Orphanet:293848 {source="MONDO:equivalentObsolete"} xref: SCTID:716667005 {source="MONDO:equivalentTo"} @@ -396197,11 +396277,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:293864"} subset: orphanet_rare {source="Orphanet:293864"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia" RELATED [OMIM:615710] +synonym: "diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia" RELATED [] synonym: "hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome" EXACT CLINGEN_LABEL [] -synonym: "hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" RELATED [Orphanet:293864] +synonym: "hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" RELATED [] synonym: "Mitchell-Riley syndrome" EXACT [MONDO:Lexical, OMIM:615710] -synonym: "MTCHRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615710] +synonym: "MTCHRS" RELATED ABBREVIATION [MONDO:Lexical] xref: GARD:5237 {source="MONDO:GARD"} xref: ICD10CM:Q45.8 {source="Orphanet:293864/attributed", source="Orphanet:293864/ntbt", source="Orphanet:293864"} xref: MEDGEN:411637 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -396221,7 +396301,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:293888"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form" EXACT [Orphanet:293888] +synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form" EXACT [] xref: DOID:0070534 {source="MONDO:equivalentTo"} xref: GARD:17345 {source="MONDO:GARD"} xref: ICD10CM:I42.8 {source="Orphanet:293888/attributed", source="Orphanet:293888/ntbt", source="Orphanet:293888"} @@ -396238,7 +396318,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:293899"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form" EXACT [Orphanet:293899] +synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form" EXACT [] xref: DOID:0070535 {source="MONDO:equivalentTo"} xref: GARD:17346 {source="MONDO:GARD"} xref: ICD10CM:I42.8 {source="Orphanet:293899/attributed", source="Orphanet:293899/ntbt", source="Orphanet:293899"} @@ -396255,9 +396335,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:293910"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, classic form" EXACT [Orphanet:293910] -synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form" EXACT [Orphanet:293910] -synonym: "familial isolated arrhythmogenic ventricular dysplasia, classic form" EXACT [Orphanet:293910] +synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, classic form" EXACT [] +synonym: "familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form" EXACT [] +synonym: "familial isolated arrhythmogenic ventricular dysplasia, classic form" EXACT [] xref: GARD:17347 {source="MONDO:GARD"} xref: ICD10CM:I42.8 {source="Orphanet:293910/attributed", source="Orphanet:293910/ntbt", source="Orphanet:293910"} xref: Orphanet:293910 {source="MONDO:equivalentTo"} @@ -396301,7 +396381,7 @@ subset: ordo_disorder {source="Orphanet:293948"} subset: ordo_malformation_syndrome {source="Orphanet:293948"} subset: orphanet_rare {source="Orphanet:293948"} subset: rare -synonym: "Del(1)p(21.3)" EXACT [Orphanet:293948] +synonym: "Del(1)p(21.3)" EXACT [] synonym: "monosomy 1p21.3" EXACT [Orphanet:293948] xref: GARD:21173 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:293948", source="Orphanet:293948/attributed", source="Orphanet:293948/ntbt"} @@ -396363,10 +396443,10 @@ subset: rare synonym: "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome" EXACT [Orphanet:293987] synonym: "rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumours syndrome" EXACT OMO:0003005 [] synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation" RELATED [GARD:0010407] -synonym: "Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation" EXACT [NORD:1648] +synonym: "Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation" EXACT [NCIT:C121944, NORD:1648] synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation" EXACT [NCIT:C121944] synonym: "rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome" EXACT [NCIT:C121944] -synonym: "ROHHAD" EXACT ABBREVIATION [Orphanet:293987] +synonym: "ROHHAD" EXACT ABBREVIATION [NCIT:C121944, Orphanet:293987] synonym: "ROHHAD syndrome" EXACT [NCIT:C121944] synonym: "ROHHADNET" EXACT ABBREVIATION [Orphanet:293987] xref: GARD:10407 {source="MONDO:GARD"} @@ -396475,8 +396555,8 @@ name: Reunion island Larsen syndrome subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome" EXACT [Orphanet:294049] -synonym: "RLS" EXACT ABBREVIATION [Orphanet:294049] +synonym: "multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome" EXACT [] +synonym: "RLS" EXACT ABBREVIATION [] xref: ICD10CM:Q74.8 {source="Orphanet:294049/attributed", source="Orphanet:294049/ntbt", source="Orphanet:294049"} xref: Orphanet:294049 {source="MONDO:equivalentObsolete"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0002-4142-7153"} ! syndromic disease @@ -396531,7 +396611,7 @@ subset: orphanet_rare {source="Orphanet:2942"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "polio late effects" RELATED [GARD:0004454] -synonym: "Post Polio Syndrome" EXACT [NORD:1600] +synonym: "Post Polio Syndrome" EXACT [icd11.foundation:2018885243, NORD:1600] synonym: "post polio syndrome" RELATED [GARD:0004454] synonym: "post-polio muscular atrophy" RELATED [GARD:0004454] synonym: "post-polio sequelae" RELATED [GARD:0004454] @@ -396540,7 +396620,7 @@ synonym: "postpolio sequelae" EXACT [Orphanet:2942] synonym: "postpolio syndrome" EXACT [DOID:4952, Orphanet:2942] synonym: "postpoliomyelitic syndrome" EXACT [Orphanet:2942] synonym: "postpoliomyelitis sequelae" EXACT [Orphanet:2942] -synonym: "postpoliomyelitis syndrome" EXACT [MONDO:0005930] +synonym: "postpoliomyelitis syndrome" EXACT [DOID:4952, MONDO:0005930, Orphanet:2942] xref: DOID:4952 {source="MONDO:equivalentTo", source="EFO:0007454"} xref: EFO:0007454 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:4454 {source="MONDO:GARD"} @@ -396636,7 +396716,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017420 name: obsolete intercalary limb defects subset: ordo_group_of_disorders {source="Orphanet:294927"} -synonym: "intercalary meromelia" EXACT [Orphanet:294927] +synonym: "intercalary meromelia" EXACT [] xref: Orphanet:294927 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -396650,8 +396730,8 @@ id: MONDO:0017421 name: obsolete non-syndromic terminal limb defects synonym: "isolated terminal limb defects" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic terminal limb defects" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "terminal limb defects" EXACT [Orphanet:294929] -synonym: "terminal meromelia" EXACT [Orphanet:294929] +synonym: "terminal limb defects" EXACT [] +synonym: "terminal meromelia" EXACT [] xref: Orphanet:294929 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -396663,7 +396743,7 @@ is_obsolete: true [Term] id: MONDO:0017422 name: obsolete adactyly of hand -synonym: "fingers absent" EXACT [Orphanet:294931] +synonym: "fingers absent" EXACT [] xref: ICD10CM:Q71.3 {source="Orphanet:294931/attributed", source="Orphanet:294931/ntbt", source="Orphanet:294931"} xref: Orphanet:294931 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -396710,7 +396790,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:12767", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "preaxial polydactyly of hand" EXACT [Orphanet:294939] +synonym: "preaxial polydactyly of hand" EXACT [] xref: GARD:12767 {source="MONDO:GARD"} xref: ICD10CM:Q69.1 {source="Orphanet:294939/attributed", source="Orphanet:294939/ntbt", source="Orphanet:294939"} xref: icd11.foundation:1066753144 {source="MONDO:equivalentTo"} @@ -396731,7 +396811,7 @@ subset: gard_rare {source="GARD:12460", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "postaxial polydactyly of hand" EXACT [Orphanet:294942] +synonym: "postaxial polydactyly of hand" EXACT [] xref: GARD:12460 {source="MONDO:GARD"} xref: ICD10CM:Q69.0 {source="Orphanet:294942/attributed", source="Orphanet:294942/ntbt", source="Orphanet:294942"} xref: icd11.foundation:1146378807 {source="MONDO:equivalentTo"} @@ -396788,7 +396868,7 @@ is_obsolete: true id: MONDO:0017430 name: obsolete non-syndromic congenital joint dislocations subset: ordo_group_of_disorders {source="Orphanet:294951"} -synonym: "congenital joint dislocations" RELATED [Orphanet:294951] +synonym: "congenital joint dislocations" RELATED [] xref: Orphanet:294951 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -396799,7 +396879,7 @@ is_obsolete: true id: MONDO:0017431 name: obsolete non-syndromic limb overgrowth subset: ordo_group_of_disorders {source="Orphanet:294953"} -synonym: "limb overgrowth" RELATED [Orphanet:294953] +synonym: "limb overgrowth" RELATED [] xref: Orphanet:294953 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -396850,8 +396930,8 @@ subset: ordo_group_of_disorders {source="Orphanet:294963"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "facio-genito-popliteal syndrome" EXACT [DOID:0060055] -synonym: "popliteal web syndrome" RELATED EXCLUDE [DOID:0060055] -synonym: "PPS" EXACT ABBREVIATION [NCIT:C118786] +synonym: "popliteal web syndrome" RELATED EXCLUDE [] +synonym: "PPS" EXACT ABBREVIATION [] xref: DOID:0060055 {source="MONDO:equivalentTo"} xref: GARD:21189 {source="MONDO:GARD"} xref: icd11.foundation:543218573 {source="MONDO:equivalentTo"} @@ -396952,7 +397032,7 @@ subset: rare synonym: "tetra-amelia syndrome" RELATED [GARD:0005148] synonym: "tetra-amelia, autosomal recessive" RELATED [GARD:0005148] synonym: "Tetraamelia, autosomal recessive" RELATED [GARD:0005148] -synonym: "total amelia" EXACT [Orphanet:294971] +synonym: "total amelia" EXACT [] xref: GARD:5148 {source="MONDO:GARD"} xref: HP:0003057 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q73.0 {source="Orphanet:294971", source="Orphanet:294971/attributed", source="Orphanet:294971/ntbt"} @@ -396973,9 +397053,9 @@ subset: ordo_disorder {source="Orphanet:294973"} subset: ordo_morphological_anomaly {source="Orphanet:294973"} subset: orphanet_rare {source="Orphanet:294973"} subset: rare -synonym: "congenital absence of humerus" EXACT [Orphanet:294973] -synonym: "congenital hypoplasia of humerus" EXACT [Orphanet:294973] -synonym: "humeral intercalary meromelia" EXACT [Orphanet:294973] +synonym: "congenital absence of humerus" EXACT [] +synonym: "congenital hypoplasia of humerus" EXACT [] +synonym: "humeral intercalary meromelia" EXACT [] xref: GARD:21192 {source="MONDO:GARD"} xref: ICD10CM:Q71.8 {source="Orphanet:294973/ntbt", source="Orphanet:294973", source="Orphanet:294973/index"} xref: icd11.foundation:1431381856 {source="MONDO:equivalentTo", source="Orphanet:294973", source="https://orcid.org/0000-0002-4142-7153"} @@ -396997,8 +397077,8 @@ subset: ordo_morphological_anomaly {source="Orphanet:294975"} subset: orphanet_rare {source="Orphanet:294975"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "humero-radio-ulnar intercalary transverse meromelia" EXACT [Orphanet:294975] -synonym: "phocomelia" EXACT [Orphanet:294975] +synonym: "humero-radio-ulnar intercalary transverse meromelia" EXACT [] +synonym: "phocomelia" EXACT [NCIT:C34928] xref: GARD:12123 {source="MONDO:GARD"} xref: ICD10CM:Q71.1 {source="Orphanet:294975/specific", source="Orphanet:294975/e", source="MONDO:equivalentTo", source="Orphanet:294975"} xref: icd11.foundation:1157109358 {source="MONDO:equivalentTo", source="Orphanet:294975", source="https://orcid.org/0000-0002-4142-7153"} @@ -397024,7 +397104,7 @@ subset: ordo_disorder {source="Orphanet:294977"} subset: ordo_morphological_anomaly {source="Orphanet:294977"} subset: orphanet_rare {source="Orphanet:294977"} subset: rare -synonym: "Femorotibiofibular intercalary transverse meromelia" EXACT [Orphanet:294977] +synonym: "Femorotibiofibular intercalary transverse meromelia" EXACT [] xref: GARD:21193 {source="MONDO:GARD"} xref: ICD10CM:Q72.1 {source="Orphanet:294977/specific", source="Orphanet:294977/e", source="MONDO:equivalentTo", source="Orphanet:294977"} xref: icd11.foundation:1165997650 {source="MONDO:equivalentTo", source="Orphanet:294977", source="https://orcid.org/0000-0002-4142-7153"} @@ -397051,7 +397131,7 @@ subset: ordo_disorder {source="Orphanet:294979"} subset: ordo_morphological_anomaly {source="Orphanet:294979"} subset: orphanet_rare {source="Orphanet:294979"} subset: rare -synonym: "radio-ulnar terminal transverse meromelia" EXACT [Orphanet:294979] +synonym: "radio-ulnar terminal transverse meromelia" EXACT [] xref: GARD:21194 {source="MONDO:GARD"} xref: ICD10CM:Q71.2 {source="Orphanet:294979", source="MONDO:equivalentTo", source="Orphanet:294979/e", source="Orphanet:294979/specific"} xref: icd11.foundation:810894993 {source="Orphanet:294979", source="MONDO:equivalentTo"} @@ -397075,7 +397155,7 @@ subset: ordo_disorder {source="Orphanet:294981"} subset: ordo_morphological_anomaly {source="Orphanet:294981"} subset: orphanet_rare {source="Orphanet:294981"} subset: rare -synonym: "tibiofibular terminal transverse meromelia" EXACT [Orphanet:294981] +synonym: "tibiofibular terminal transverse meromelia" EXACT [] xref: GARD:21195 {source="MONDO:GARD"} xref: ICD10CM:Q72.2 {source="MONDO:equivalentTo", source="Orphanet:294981", source="Orphanet:294981/specific", source="Orphanet:294981/e"} xref: icd11.foundation:835905199 {source="MONDO:equivalentTo", source="Orphanet:294981"} @@ -397100,7 +397180,7 @@ subset: ordo_disorder {source="Orphanet:294983"} subset: ordo_morphological_anomaly {source="Orphanet:294983"} subset: orphanet_rare {source="Orphanet:294983"} subset: rare -synonym: "congenital absence of hand" EXACT [Orphanet:294983] +synonym: "congenital absence of hand" EXACT [icd11.foundation:1428065029] xref: GARD:21196 {source="MONDO:GARD"} xref: ICD10CM:Q71.3 {source="Orphanet:294983/specific", source="Orphanet:294983", source="Orphanet:294983/e"} xref: icd11.foundation:1428065029 {source="MONDO:equivalentTo", source="Orphanet:294983"} @@ -397123,7 +397203,7 @@ subset: ordo_disorder {source="Orphanet:294986"} subset: ordo_morphological_anomaly {source="Orphanet:294986"} subset: orphanet_rare {source="Orphanet:294986"} subset: rare -synonym: "congenital absence of foot" EXACT [Orphanet:294986] +synonym: "congenital absence of foot" EXACT [icd11.foundation:1419324219] xref: GARD:21197 {source="MONDO:GARD"} xref: ICD10CM:Q72.3 {source="Orphanet:294986/specific", source="Orphanet:294986/e", source="Orphanet:294986"} xref: icd11.foundation:1419324219 {source="MONDO:equivalentTo", source="Orphanet:294986"} @@ -397143,8 +397223,8 @@ name: obsolete congenital absence/hypoplasia of thumb def: "OBSOLETE. Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome." [Orphanet:294988] subset: ordo_disorder {source="Orphanet:294988"} subset: ordo_morphological_anomaly {source="Orphanet:294988"} -synonym: "thumb hypodactyly" EXACT [Orphanet:294988] -synonym: "thumb oligodactyly" EXACT [Orphanet:294988] +synonym: "thumb hypodactyly" EXACT [] +synonym: "thumb oligodactyly" EXACT [] xref: ICD10CM:Q71.3 {source="Orphanet:294988/attributed", source="Orphanet:294988/ntbt", source="Orphanet:294988"} xref: Orphanet:294988 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -397159,8 +397239,8 @@ is_obsolete: true id: MONDO:0017448 name: obsolete congenital absence/hypoplasia of fingers excluding thumb subset: ordo_morphological_anomaly {source="Orphanet:294990"} -synonym: "digits 2-5 hypodactyly" EXACT [Orphanet:294990] -synonym: "digits 2-5 oligodactyly" EXACT [Orphanet:294990] +synonym: "digits 2-5 hypodactyly" EXACT [] +synonym: "digits 2-5 oligodactyly" EXACT [] xref: ICD10CM:Q71.3 {source="Orphanet:294990/attributed", source="Orphanet:294990/ntbt", source="Orphanet:294990"} xref: Orphanet:294990 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -397179,8 +397259,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_morphological_anomaly {source="Orphanet:294992"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectrodactyly of hand" EXACT [Orphanet:294992] -synonym: "split hand" EXACT [MONDO:ambiguous] +synonym: "ectrodactyly of hand" EXACT [] +synonym: "split hand" EXACT [icd11.foundation:924222970, MONDO:ambiguous] synonym: "split hand (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001171 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q71.6 {source="Orphanet:294992", source="Orphanet:294992/specific", source="Orphanet:294992/e"} @@ -397201,7 +397281,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_morphological_anomaly {source="Orphanet:294994"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "split foot" EXACT [MONDO:ambiguous] +synonym: "split foot" EXACT [icd11.foundation:1406855248, MONDO:ambiguous] synonym: "split foot (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001839 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q72.7 {source="Orphanet:294994/specific", source="Orphanet:294994", source="Orphanet:294994/e"} @@ -397225,7 +397305,7 @@ subset: obsoletion_candidate subset: ordo_morphological_anomaly {source="Orphanet:294996"} synonym: "manus non-syndromic brachydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "non-syndromic brachydactyly of manus" EXACT [MONDO:design_pattern] -synonym: "short fingers" EXACT [Orphanet:294996] +synonym: "short fingers" EXACT [] xref: ICD10CM:Q71.8 {source="Orphanet:294996", source="Orphanet:294996/attributed", source="Orphanet:294996/ntbt"} xref: Orphanet:294996 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017424 {source="MONDO:Redundant", source="Orphanet:294996"} ! non-syndromic brachydactyly @@ -397241,7 +397321,7 @@ def: "A non-syndromic brachydactyly that involves the pes." [MONDO:patterns/loca subset: ordo_morphological_anomaly {source="Orphanet:294998"} synonym: "non-syndromic brachydactyly of pes" EXACT [MONDO:design_pattern] synonym: "pes non-syndromic brachydactyly" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "short toes" EXACT [Orphanet:294998] +synonym: "short toes" EXACT [] xref: ICD10CM:Q72.8 {source="Orphanet:294998/attributed", source="Orphanet:294998/ntbt", source="Orphanet:294998"} xref: ICD9:755.66 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:609304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -397289,7 +397369,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:2950"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "TPT-PS syndrome" EXACT [Orphanet:2950] +synonym: "TPT-PS syndrome" EXACT [OMIM:190605] xref: ICD10CM:Q74.8 {source="Orphanet:2950/attributed", source="Orphanet:2950/ntbt", source="Orphanet:2950"} xref: MEDGEN:1830424 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536563 {source="Orphanet:2950", source="Orphanet:2950/e"} @@ -397311,7 +397391,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:295002"} subset: orphanet_rare {source="Orphanet:295002"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "supernumerary phalanges" EXACT [Orphanet:295002] +synonym: "supernumerary phalanges" EXACT [] synonym: "supernumerary phalanx" EXACT [Orphanet:295002] xref: GARD:21199 {source="MONDO:GARD"} xref: ICD10CM:Q74.8 {source="Orphanet:295002", source="Orphanet:295002/attributed", source="Orphanet:295002/ntbt"} @@ -397331,11 +397411,11 @@ subset: ordo_disorder {source="Orphanet:295004"} subset: ordo_morphological_anomaly {source="Orphanet:295004"} subset: orphanet_rare {source="Orphanet:295004"} subset: rare -synonym: "central polydactyly" RELATED [Orphanet:295004] -synonym: "central polydactyly of hand" EXACT [Orphanet:295004] +synonym: "central polydactyly" RELATED [] +synonym: "central polydactyly of hand" EXACT [] synonym: "mesoaxial polydactyly" EXACT [Orphanet:295004] -synonym: "mesoaxial polydactyly of fingers" EXACT [Orphanet:295004] -synonym: "mirror hand" EXACT [Orphanet:295004] +synonym: "mesoaxial polydactyly of fingers" EXACT [] +synonym: "mirror hand" EXACT [] xref: GARD:21200 {source="MONDO:GARD"} xref: ICD10CM:Q69.0 {source="Orphanet:295004", source="Orphanet:295004/attributed", source="Orphanet:295004/ntbt"} xref: icd11.foundation:243366415 {source="MONDO:equivalentTo"} @@ -397351,10 +397431,10 @@ name: Preaxial polydactyly of toes subset: gard_rare {source="GARD:12771", source="MONDO:GARD"} subset: ordo_morphological_anomaly {source="Orphanet:295006"} subset: rare -synonym: "bifid great toes" EXACT [Orphanet:295006] -synonym: "bifid halluces" EXACT [Orphanet:295006] -synonym: "bifid hallux" EXACT [Orphanet:295006] -synonym: "preaxial polydactyly of foot" EXACT [Orphanet:295006] +synonym: "bifid great toes" EXACT [] +synonym: "bifid halluces" EXACT [] +synonym: "bifid hallux" EXACT [] +synonym: "preaxial polydactyly of foot" EXACT [] xref: GARD:12771 {source="MONDO:GARD"} xref: ICD10CM:Q69.2 {source="Orphanet:295006/attributed", source="Orphanet:295006/ntbt", source="Orphanet:295006"} xref: icd11.foundation:1685587490 {source="MONDO:equivalentTo"} @@ -397368,7 +397448,7 @@ is_a: MONDO:0011348 {source="Orphanet:295006"} ! non-syndromic polydactyly id: MONDO:0017458 name: obsolete postaxial polydactyly of toes comment: Obsolete in Orphanet -synonym: "postaxial polydactyly of foot" EXACT [Orphanet:295008] +synonym: "postaxial polydactyly of foot" EXACT [] xref: ICD10CM:Q69.2 {source="Orphanet:295008/attributed", source="Orphanet:295008/ntbt", source="Orphanet:295008"} xref: Orphanet:295008 {source="MONDO:obsoleteEquivalentObsolete"} xref: SCTID:205133005 {source="MONDO:obsoleteEquivalent"} @@ -397379,9 +397459,9 @@ consider: MONDO:0011348 id: MONDO:0017459 name: obsolete central polydactyly of toes comment: Obsolete in Orphanet -synonym: "central polydactyly of foot" EXACT [Orphanet:295010] -synonym: "mesoaxial polydactyly of toes" EXACT [Orphanet:295010] -synonym: "mirror foot" EXACT [Orphanet:295010] +synonym: "central polydactyly of foot" EXACT [] +synonym: "mesoaxial polydactyly of toes" EXACT [] +synonym: "mirror foot" EXACT [] xref: ICD10CM:Q69.2 {source="Orphanet:295010", source="Orphanet:295010/attributed", source="Orphanet:295010/ntbt"} xref: Orphanet:295010 {source="MONDO:obsoleteEquivalentObsolete"} xref: SCTID:253967005 {source="MONDO:obsoleteEquivalent"} @@ -397528,7 +397608,7 @@ subset: ordo_disorder {source="Orphanet:295028"} subset: ordo_morphological_anomaly {source="Orphanet:295028"} subset: orphanet_rare {source="Orphanet:295028"} subset: rare -synonym: "Tibio-fibular fusion" EXACT [Orphanet:295028] +synonym: "Tibio-fibular fusion" EXACT [] xref: GARD:21208 {source="MONDO:GARD"} xref: ICD10CM:Q74.2 {source="Orphanet:295028/attributed", source="Orphanet:295028/ntbt", source="Orphanet:295028"} xref: icd11.foundation:1756900121 {source="MONDO:equivalentTo", source="Orphanet:295028"} @@ -397572,9 +397652,9 @@ subset: ordo_disorder {source="Orphanet:295032"} subset: ordo_morphological_anomaly {source="Orphanet:295032"} subset: orphanet_rare {source="Orphanet:295032"} subset: rare -synonym: "congenital radial head dislocation" EXACT [Orphanet:295032] +synonym: "congenital radial head dislocation" EXACT [] synonym: "isolated congenital elbow dislocation" EXACT [Orphanet:295032] -synonym: "isolated congenital radial head dislocation" RELATED [Orphanet:295032] +synonym: "isolated congenital radial head dislocation" RELATED [] xref: GARD:21210 {source="MONDO:GARD"} xref: ICD10CM:Q68.8 {source="Orphanet:295032/inclusion", source="Orphanet:295032", source="Orphanet:295032/ntbt"} xref: icd11.foundation:1593186141 {source="Orphanet:295032", source="MONDO:equivalentTo"} @@ -397595,7 +397675,7 @@ subset: ordo_disorder {source="Orphanet:295034"} subset: ordo_morphological_anomaly {source="Orphanet:295034"} subset: orphanet_rare {source="Orphanet:295034"} subset: rare -synonym: "congenital knee dislocation" EXACT [MONDO:ambiguous] +synonym: "congenital knee dislocation" EXACT [icd11.foundation:1229590493, MONDO:ambiguous, Orphanet:295034] synonym: "congenital knee dislocation (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:21211 {source="MONDO:GARD"} xref: HP:0005191 {source="MONDO:otherHierarchy"} @@ -397811,7 +397891,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "humeral intercalary meromelia, unilateral" EXACT [Orphanet:295061] +synonym: "humeral intercalary meromelia, unilateral" EXACT [] xref: ICD10CM:Q71.8 {source="Orphanet:295061/attributed", source="Orphanet:295061/ntbt", source="Orphanet:295061"} xref: Orphanet:295061 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017440 {source="Orphanet:295061"} ! humeral agenesis/hypoplasia @@ -397825,7 +397905,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "humeral intercalary meromelia, bilateral" EXACT [Orphanet:295063] +synonym: "humeral intercalary meromelia, bilateral" EXACT [] xref: ICD10CM:Q71.8 {source="Orphanet:295063", source="Orphanet:295063/attributed", source="Orphanet:295063/ntbt"} xref: Orphanet:295063 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017440 {source="Orphanet:295063"} ! humeral agenesis/hypoplasia @@ -397839,7 +397919,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "femoral intercalary meromelia, unilateral" EXACT [Orphanet:295065] +synonym: "femoral intercalary meromelia, unilateral" EXACT [] xref: ICD10CM:Q72.4 {source="Orphanet:295065", source="Orphanet:295065/attributed", source="Orphanet:295065/ntbt"} xref: Orphanet:295065 {source="MONDO:equivalentObsolete"} is_a: MONDO:0016032 {source="Orphanet:295065"} ! femoral agenesis/hypoplasia @@ -397854,7 +397934,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: rare -synonym: "femoral intercalary meromelia, bilateral" EXACT [Orphanet:295067] +synonym: "femoral intercalary meromelia, bilateral" EXACT [] xref: ICD10CM:Q72.4 {source="Orphanet:295067/attributed", source="Orphanet:295067/ntbt", source="Orphanet:295067"} xref: Orphanet:295067 {source="MONDO:equivalentObsolete"} is_a: MONDO:0016032 {source="Orphanet:295067"} ! femoral agenesis/hypoplasia @@ -397868,7 +397948,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "radial longitidinal meromelia, unilateral" EXACT [Orphanet:295069] +synonym: "radial longitidinal meromelia, unilateral" EXACT [] xref: ICD10CM:Q71.4 {source="Orphanet:295069", source="Orphanet:295069/attributed", source="Orphanet:295069/ntbt"} xref: icd11.foundation:1956537587 {source="MONDO:equivalentTo"} xref: Orphanet:295069 {source="MONDO:equivalentObsolete"} @@ -397883,7 +397963,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "radial longitidinal meromelia, bilateral" EXACT [Orphanet:295071] +synonym: "radial longitidinal meromelia, bilateral" EXACT [] xref: ICD10CM:Q71.4 {source="Orphanet:295071/attributed", source="Orphanet:295071/ntbt", source="Orphanet:295071"} xref: icd11.foundation:1701238542 {source="MONDO:equivalentTo"} xref: Orphanet:295071 {source="MONDO:equivalentObsolete"} @@ -397898,7 +397978,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "ulnar longitudinal meromelia, bilateral" EXACT [Orphanet:295073] +synonym: "ulnar longitudinal meromelia, bilateral" EXACT [] xref: ICD10CM:Q71.5 {source="Orphanet:295073", source="Orphanet:295073/attributed", source="Orphanet:295073/ntbt"} xref: icd11.foundation:837973744 {source="MONDO:equivalentTo"} xref: Orphanet:295073 {source="MONDO:equivalentObsolete"} @@ -397913,7 +397993,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "ulnar longitudinal meromelia, unilateral" EXACT [Orphanet:295075] +synonym: "ulnar longitudinal meromelia, unilateral" EXACT [] xref: ICD10CM:Q71.5 {source="Orphanet:295075/attributed", source="Orphanet:295075/ntbt", source="Orphanet:295075"} xref: icd11.foundation:1826480139 {source="MONDO:equivalentTo"} xref: Orphanet:295075 {source="MONDO:equivalentObsolete"} @@ -397928,7 +398008,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "tibial longitudinal meromelia, unilateral" EXACT [Orphanet:295077] +synonym: "tibial longitudinal meromelia, unilateral" EXACT [] xref: ICD10CM:Q72.5 {source="Orphanet:295077/attributed", source="Orphanet:295077/ntbt", source="Orphanet:295077"} xref: icd11.foundation:863808263 {source="MONDO:equivalentTo"} xref: Orphanet:295077 {source="MONDO:equivalentObsolete"} @@ -397941,7 +398021,7 @@ id: MONDO:0017491 name: tibial hemimelia, bilateral subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "tibial longitudinal meromelia, bilateral" EXACT [Orphanet:295079] +synonym: "tibial longitudinal meromelia, bilateral" EXACT [] xref: ICD10CM:Q72.5 {source="Orphanet:295079", source="Orphanet:295079/attributed", source="Orphanet:295079/ntbt"} xref: icd11.foundation:1562926182 {source="MONDO:equivalentTo"} xref: MEDGEN:1776601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -397956,7 +398036,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "fibular longitudinal meromelia, unilateral" EXACT [Orphanet:295081] +synonym: "fibular longitudinal meromelia, unilateral" EXACT [] xref: ICD10CM:Q72.6 {source="Orphanet:295081/attributed", source="Orphanet:295081/ntbt", source="Orphanet:295081"} xref: icd11.foundation:1359584794 {source="MONDO:equivalentTo"} xref: Orphanet:295081 {source="MONDO:equivalentObsolete"} @@ -397971,7 +398051,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "fibular longitudinal meromelia, bilateral" EXACT [Orphanet:295083] +synonym: "fibular longitudinal meromelia, bilateral" EXACT [] xref: ICD10CM:Q72.6 {source="Orphanet:295083/attributed", source="Orphanet:295083/ntbt", source="Orphanet:295083"} xref: icd11.foundation:1479927692 {source="MONDO:equivalentTo"} xref: Orphanet:295083 {source="MONDO:equivalentObsolete"} @@ -397983,7 +398063,7 @@ property_value: IAO:0006012 "2024-09-01" xsd:string id: MONDO:0017494 name: obsolete congenital absence of upper arm and forearm with hand present, unilateral comment: Obsolete in Orphanet -synonym: "humero-radio-ulnar intercalary transverse meromelia, unilateral" EXACT [Orphanet:295085] +synonym: "humero-radio-ulnar intercalary transverse meromelia, unilateral" EXACT [] xref: ICD10CM:Q71.1 {source="Orphanet:295085", source="Orphanet:295085/attributed", source="Orphanet:295085/ntbt"} xref: Orphanet:295085 {source="MONDO:obsoleteEquivalentObsolete"} is_obsolete: true @@ -397993,7 +398073,7 @@ consider: MONDO:0017441 id: MONDO:0017495 name: obsolete congenital absence of upper arm and forearm with hand present, bilateral comment: Obsolete in Orphanet -synonym: "humero-radio-ulnar intercalary transverse meromelia, bilateral" EXACT [Orphanet:295087] +synonym: "humero-radio-ulnar intercalary transverse meromelia, bilateral" EXACT [] xref: ICD10CM:Q71.1 {source="Orphanet:295087", source="Orphanet:295087/attributed", source="Orphanet:295087/ntbt"} xref: ICD10CM:Q71.13 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:295087 {source="MONDO:obsoleteEquivalentObsolete"} @@ -398007,7 +398087,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "Femorotibiofibular intercalary transverse meromelia, unilateral" EXACT [Orphanet:295089] +synonym: "Femorotibiofibular intercalary transverse meromelia, unilateral" EXACT [] xref: ICD10CM:Q72.1 {source="Orphanet:295089/attributed", source="Orphanet:295089/ntbt", source="Orphanet:295089"} xref: Orphanet:295089 {source="MONDO:equivalentObsolete"} is_a: MONDO:0017442 {source="Orphanet:295089"} ! congenital absence of thigh and lower leg with foot present @@ -398021,7 +398101,7 @@ id: MONDO:0017497 name: congenital absence of thigh and lower leg with foot present, bilateral subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Femorotibiofibular intercalary transverse meromelia, bilateral" EXACT [Orphanet:295091] +synonym: "Femorotibiofibular intercalary transverse meromelia, bilateral" EXACT [] xref: ICD10CM:Q72.1 {source="Orphanet:295091/attributed", source="Orphanet:295091/ntbt", source="Orphanet:295091"} xref: ICD10CM:Q72.13 {source="MONDO:equivalentTo"} xref: MEDGEN:1843495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -398040,7 +398120,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: rare -synonym: "radio-ulnar terminal transverse meromelia, unilateral" EXACT [Orphanet:295093] +synonym: "radio-ulnar terminal transverse meromelia, unilateral" EXACT [] xref: ICD10CM:Q71.2 {source="Orphanet:295093/attributed", source="Orphanet:295093/ntbt", source="Orphanet:295093"} xref: icd11.foundation:2019491585 {source="MONDO:equivalentTo"} xref: Orphanet:295093 {source="MONDO:equivalentObsolete"} @@ -398057,7 +398137,7 @@ def: "Congenital absence of both forearm and hand, bilateral is a rare developme subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "radio-ulnar terminal transverse meromelia, bilateral" EXACT [Orphanet:295095] +synonym: "radio-ulnar terminal transverse meromelia, bilateral" EXACT [] xref: ICD10CM:Q71.2 {source="Orphanet:295095", source="Orphanet:295095/attributed", source="Orphanet:295095/ntbt"} xref: ICD10CM:Q71.23 {source="MONDO:equivalentTo"} xref: icd11.foundation:1524444518 {source="MONDO:equivalentTo"} @@ -398075,7 +398155,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "tibiofibular terminal transverse meromelia, unilateral" EXACT [Orphanet:295097] +synonym: "tibiofibular terminal transverse meromelia, unilateral" EXACT [] xref: ICD10CM:Q72.2 {source="Orphanet:295097/attributed", source="Orphanet:295097/ntbt", source="Orphanet:295097"} xref: icd11.foundation:608099172 {source="MONDO:equivalentTo"} xref: Orphanet:295097 {source="MONDO:equivalentObsolete"} @@ -398090,7 +398170,7 @@ id: MONDO:0017501 name: congenital absence of both lower leg and foot, bilateral subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "tibiofibular terminal transverse meromelia, bilateral" EXACT [Orphanet:295099] +synonym: "tibiofibular terminal transverse meromelia, bilateral" EXACT [] xref: ICD10CM:Q72.2 {source="Orphanet:295099/attributed", source="Orphanet:295099/ntbt", source="Orphanet:295099"} xref: ICD10CM:Q72.23 {source="MONDO:equivalentTo"} xref: icd11.foundation:113051911 {source="MONDO:equivalentTo"} @@ -398108,7 +398188,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "congenital absence of hand, unilateral" EXACT [Orphanet:295101] +synonym: "congenital absence of hand, unilateral" EXACT [] xref: ICD10CM:Q71.3 {source="Orphanet:295101", source="Orphanet:295101/attributed", source="Orphanet:295101/ntbt"} xref: icd11.foundation:1906312110 {source="MONDO:equivalentTo"} xref: Orphanet:295101 {source="MONDO:equivalentObsolete"} @@ -398122,7 +398202,7 @@ name: acheiria, bilateral subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "congenital absence of hand, bilateral" EXACT [Orphanet:295103] +synonym: "congenital absence of hand, bilateral" EXACT [] xref: ICD10CM:Q71.3 {source="Orphanet:295103", source="Orphanet:295103/attributed", source="Orphanet:295103/ntbt"} xref: icd11.foundation:1430605018 {source="MONDO:equivalentTo"} xref: MEDGEN:672347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -398138,7 +398218,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "congenital absence of foot, unilateral" EXACT [Orphanet:295105] +synonym: "congenital absence of foot, unilateral" EXACT [] xref: ICD10CM:Q72.3 {source="Orphanet:295105/attributed", source="Orphanet:295105/ntbt", source="Orphanet:295105"} xref: icd11.foundation:1499762342 {source="MONDO:equivalentTo"} xref: Orphanet:295105 {source="MONDO:equivalentObsolete"} @@ -398151,7 +398231,7 @@ id: MONDO:0017505 name: apodia, bilateral subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "congenital absence of foot, bilateral" EXACT [Orphanet:295107] +synonym: "congenital absence of foot, bilateral" EXACT [] xref: ICD10CM:Q72.3 {source="Orphanet:295107/attributed", source="Orphanet:295107/ntbt", source="Orphanet:295107"} xref: icd11.foundation:1292290082 {source="MONDO:equivalentTo"} xref: MEDGEN:672391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -398163,8 +398243,8 @@ is_a: MONDO:0017446 {source="Orphanet:295107", source="icd11.foundation:12922900 id: MONDO:0017506 name: obsolete congenital absence/hypoplasia of thumb, unilateral def: "OBSOLETE. Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb." [Orphanet:295110] -synonym: "thumb hypodactyly, unilateral" EXACT [Orphanet:295110] -synonym: "thumb oligodactyly, unilateral" EXACT [Orphanet:295110] +synonym: "thumb hypodactyly, unilateral" EXACT [] +synonym: "thumb oligodactyly, unilateral" EXACT [] xref: ICD10CM:Q71.3 {source="Orphanet:295110/attributed", source="Orphanet:295110/ntbt", source="Orphanet:295110"} xref: Orphanet:295110 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"} @@ -398176,8 +398256,8 @@ is_obsolete: true id: MONDO:0017507 name: obsolete congenital absence/hypoplasia of thumb, bilateral def: "OBSOLETE. Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias." [Orphanet:295112] -synonym: "thumb hypodactyly, bilateral" EXACT [Orphanet:295112] -synonym: "thumb oligodactyly, bilateral" EXACT [Orphanet:295112] +synonym: "thumb hypodactyly, bilateral" EXACT [] +synonym: "thumb oligodactyly, bilateral" EXACT [] xref: ICD10CM:Q71.3 {source="Orphanet:295112", source="Orphanet:295112/attributed", source="Orphanet:295112/ntbt"} xref: Orphanet:295112 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"} @@ -398188,9 +398268,9 @@ is_obsolete: true [Term] id: MONDO:0017508 name: obsolete congenital absence/hypoplasia of fingers excluding thumb, bilateral -synonym: "Adactyly of hand, bilateral" EXACT [Orphanet:295114] -synonym: "digits 2-5 hypodactyly, bilateral" EXACT [Orphanet:295114] -synonym: "digits 2-5 oligodactyly, bilateral" EXACT [Orphanet:295114] +synonym: "Adactyly of hand, bilateral" EXACT [] +synonym: "digits 2-5 hypodactyly, bilateral" EXACT [] +synonym: "digits 2-5 oligodactyly, bilateral" EXACT [] xref: ICD10CM:Q71.3 {source="Orphanet:295114", source="Orphanet:295114/attributed", source="Orphanet:295114/ntbt"} xref: Orphanet:295114 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"} @@ -398205,7 +398285,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "congenital absence of toes, unilateral" EXACT [Orphanet:295116] +synonym: "congenital absence of toes, unilateral" EXACT [] xref: ICD10CM:Q72.8 {source="Orphanet:295116/attributed", source="Orphanet:295116/ntbt", source="Orphanet:295116"} xref: Orphanet:295116 {source="MONDO:equivalentObsolete"} is_a: MONDO:0018563 {source="Orphanet:295116"} ! adactyly of foot @@ -398217,7 +398297,7 @@ id: MONDO:0017510 name: adactyly of foot, bilateral subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "congenital absence of toes, bilateral" EXACT [Orphanet:295118] +synonym: "congenital absence of toes, bilateral" EXACT [] xref: ICD10CM:Q72.8 {source="Orphanet:295118/attributed", source="Orphanet:295118/ntbt", source="Orphanet:295118"} xref: MEDGEN:1718340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:295118 {source="MONDO:equivalentObsolete"} @@ -398288,7 +398368,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: rare -synonym: "short fingers, unilateral" EXACT [Orphanet:295128] +synonym: "short fingers, unilateral" EXACT [] xref: ICD10CM:Q71.8 {source="Orphanet:295128", source="Orphanet:295128/attributed", source="Orphanet:295128/ntbt"} xref: icd11.foundation:825108601 {source="MONDO:equivalentTo"} xref: Orphanet:295128 {source="MONDO:equivalentObsolete"} @@ -398299,7 +398379,7 @@ property_value: IAO:0006012 "2024-09-01" xsd:string [Term] id: MONDO:0017516 name: brachydactyly of fingers, bilateral -synonym: "short fingers, bilateral" EXACT [Orphanet:295130] +synonym: "short fingers, bilateral" EXACT [] xref: ICD10CM:Q71.8 {source="Orphanet:295130/attributed", source="Orphanet:295130/ntbt", source="Orphanet:295130"} xref: icd11.foundation:412618992 {source="MONDO:equivalentTo"} xref: MEDGEN:1665318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -398312,7 +398392,7 @@ id: MONDO:0017517 name: brachydactyly of toes, unilateral comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - subset: obsoletion_candidate -synonym: "short toes, unilateral" EXACT [Orphanet:295132] +synonym: "short toes, unilateral" EXACT [] xref: ICD10CM:Q72.8 {source="Orphanet:295132/attributed", source="Orphanet:295132/ntbt", source="Orphanet:295132"} xref: icd11.foundation:714196201 {source="MONDO:equivalentTo"} xref: Orphanet:295132 {source="MONDO:equivalentObsolete"} @@ -398323,7 +398403,7 @@ property_value: IAO:0006012 "2024-09-01" xsd:string [Term] id: MONDO:0017518 name: brachydactyly of toes, bilateral -synonym: "short toes, bilateral" EXACT [Orphanet:295134] +synonym: "short toes, bilateral" EXACT [] xref: ICD10CM:Q72.8 {source="Orphanet:295134", source="Orphanet:295134/attributed", source="Orphanet:295134/ntbt"} xref: icd11.foundation:357312922 {source="MONDO:equivalentTo"} xref: MEDGEN:1702894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -398364,9 +398444,9 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "hyperphalangy in digits 2-5" EXACT [Orphanet:295140] -synonym: "supernumerary phalanges, unilateral" EXACT [Orphanet:295140] -synonym: "supernumerary phalanx, unilateral" EXACT [Orphanet:295140] +synonym: "hyperphalangy in digits 2-5" EXACT [] +synonym: "supernumerary phalanges, unilateral" EXACT [] +synonym: "supernumerary phalanx, unilateral" EXACT [] xref: ICD10CM:Q74.8 {source="Orphanet:295140", source="Orphanet:295140/attributed", source="Orphanet:295140/ntbt"} xref: icd11.foundation:1023621052 {source="MONDO:equivalentTo"} xref: Orphanet:295140 {source="MONDO:equivalentObsolete"} @@ -398382,8 +398462,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: rare -synonym: "supernumerary phalanges, bilateral" EXACT [Orphanet:295142] -synonym: "supernumerary phalanx, bilateral" EXACT [Orphanet:295142] +synonym: "supernumerary phalanges, bilateral" EXACT [] +synonym: "supernumerary phalanx, bilateral" EXACT [] xref: ICD10CM:Q74.8 {source="Orphanet:295142", source="Orphanet:295142/attributed", source="Orphanet:295142/ntbt"} xref: icd11.foundation:528541151 {source="MONDO:equivalentTo"} xref: Orphanet:295142 {source="MONDO:equivalentObsolete"} @@ -398399,7 +398479,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: rare -synonym: "preaxial polydactyly type 1, unilateral" EXACT [Orphanet:295144] +synonym: "preaxial polydactyly type 1, unilateral" EXACT [] xref: ICD10CM:Q69.1 {source="Orphanet:295144/attributed", source="Orphanet:295144/ntbt", source="Orphanet:295144"} xref: Orphanet:295144 {source="MONDO:equivalentObsolete"} is_a: MONDO:0008269 {source="Orphanet:295144"} ! polydactyly of a biphalangeal thumb @@ -398413,7 +398493,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "preaxial polydactyly type 1, bilateral" EXACT [Orphanet:295146] +synonym: "preaxial polydactyly type 1, bilateral" EXACT [] xref: ICD10CM:Q69.1 {source="Orphanet:295146", source="Orphanet:295146/attributed", source="Orphanet:295146/ntbt"} xref: Orphanet:295146 {source="MONDO:equivalentObsolete"} is_a: MONDO:0008269 {source="Orphanet:295146"} ! polydactyly of a biphalangeal thumb @@ -398428,8 +398508,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: rare -synonym: "preaxial polydactyly type 2, unilateral" EXACT [Orphanet:295148] -synonym: "unilateral PPD2" EXACT [Orphanet:295148] +synonym: "preaxial polydactyly type 2, unilateral" EXACT [] +synonym: "unilateral PPD2" EXACT [] xref: ICD10CM:Q69.1 {source="Orphanet:295148", source="Orphanet:295148/attributed", source="Orphanet:295148/ntbt"} xref: icd11.foundation:71240015 {source="MONDO:equivalentTo"} xref: Orphanet:295148 {source="MONDO:equivalentObsolete"} @@ -398445,8 +398525,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: rare -synonym: "bilateral PPD2" EXACT [Orphanet:295150] -synonym: "preaxial polydactyly type 2, bilateral" EXACT [Orphanet:295150] +synonym: "bilateral PPD2" EXACT [] +synonym: "preaxial polydactyly type 2, bilateral" EXACT [] xref: ICD10CM:Q69.1 {source="Orphanet:295150", source="Orphanet:295150/attributed", source="Orphanet:295150/ntbt"} xref: icd11.foundation:866920497 {source="MONDO:equivalentTo"} xref: Orphanet:295150 {source="MONDO:equivalentObsolete"} @@ -398462,7 +398542,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: rare -synonym: "preaxial polydactyly type 3, unilateral" EXACT [Orphanet:295152] +synonym: "preaxial polydactyly type 3, unilateral" EXACT [] xref: ICD10CM:Q69.0 {source="Orphanet:295152/attributed", source="Orphanet:295152/ntbt", source="Orphanet:295152"} xref: icd11.foundation:734031453 {source="MONDO:equivalentTo"} xref: Orphanet:295152 {source="MONDO:equivalentObsolete"} @@ -398475,7 +398555,7 @@ id: MONDO:0017528 name: polydactyly of an index finger, bilateral subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "preaxial polydactyly type 3, bilateral" EXACT [Orphanet:295154] +synonym: "preaxial polydactyly type 3, bilateral" EXACT [] xref: ICD10CM:Q69.0 {source="Orphanet:295154/attributed", source="Orphanet:295154/ntbt", source="Orphanet:295154"} xref: icd11.foundation:806174152 {source="MONDO:equivalentTo"} xref: MEDGEN:1727346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -398490,7 +398570,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "preaxial polydactyly type 4, unilateral" EXACT [Orphanet:295159] +synonym: "preaxial polydactyly type 4, unilateral" EXACT [] xref: ICD10CM:Q70.4 {source="Orphanet:295159", source="Orphanet:295159/attributed", source="Orphanet:295159/ntbt"} xref: icd11.foundation:127802550 {source="MONDO:equivalentTo"} xref: Orphanet:295159 {source="MONDO:equivalentObsolete"} @@ -398505,7 +398585,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "preaxial polydactyly type 4, bilateral" EXACT [Orphanet:295161] +synonym: "preaxial polydactyly type 4, bilateral" EXACT [] xref: ICD10CM:Q70.4 {source="Orphanet:295161", source="Orphanet:295161/attributed", source="Orphanet:295161/ntbt"} xref: icd11.foundation:622710483 {source="MONDO:equivalentTo"} xref: Orphanet:295161 {source="MONDO:equivalentObsolete"} @@ -398577,8 +398657,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: obsoletion_candidate subset: rare -synonym: "mesoaxial polydactyly of fingers, unilateral" EXACT [Orphanet:295171] -synonym: "mirror hand, unilateral" EXACT [Orphanet:295171] +synonym: "mesoaxial polydactyly of fingers, unilateral" EXACT [] +synonym: "mirror hand, unilateral" EXACT [] xref: ICD10CM:Q69.0 {source="Orphanet:295171/attributed", source="Orphanet:295171/ntbt", source="Orphanet:295171"} xref: icd11.foundation:738371690 {source="MONDO:equivalentTo"} xref: Orphanet:295171 {source="MONDO:equivalentObsolete"} @@ -398591,8 +398671,8 @@ id: MONDO:0017536 name: central polydactyly of fingers, bilateral subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mesoaxial polydactyly of fingers, bilateral" EXACT [Orphanet:295173] -synonym: "mirror hand, bilateral" EXACT [Orphanet:295173] +synonym: "mesoaxial polydactyly of fingers, bilateral" EXACT [] +synonym: "mirror hand, bilateral" EXACT [] xref: ICD10CM:Q69.0 {source="Orphanet:295173", source="Orphanet:295173/attributed", source="Orphanet:295173/ntbt"} xref: icd11.foundation:462522644 {source="MONDO:equivalentTo"} xref: MEDGEN:1747972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -398607,9 +398687,9 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "bifid great toes, unilateral" EXACT [Orphanet:295175] -synonym: "bifid halluces, unilateral" EXACT [Orphanet:295175] -synonym: "bifid hallux, unilateral" EXACT [Orphanet:295175] +synonym: "bifid great toes, unilateral" EXACT [] +synonym: "bifid halluces, unilateral" EXACT [] +synonym: "bifid hallux, unilateral" EXACT [] xref: ICD10CM:Q69.2 {source="Orphanet:295175", source="Orphanet:295175/attributed", source="Orphanet:295175/ntbt"} xref: icd11.foundation:841462147 {source="MONDO:equivalentTo"} xref: Orphanet:295175 {source="MONDO:equivalentObsolete"} @@ -398622,9 +398702,9 @@ id: MONDO:0017538 name: Preaxial polydactyly of toes, bilateral subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "bifid great toes, bilateral" EXACT [Orphanet:295177] -synonym: "bifid halluces, bilateral" EXACT [Orphanet:295177] -synonym: "bifid hallux, bilateral" EXACT [Orphanet:295177] +synonym: "bifid great toes, bilateral" EXACT [] +synonym: "bifid halluces, bilateral" EXACT [] +synonym: "bifid hallux, bilateral" EXACT [] xref: ICD10CM:Q69.2 {source="Orphanet:295177/attributed", source="Orphanet:295177/ntbt", source="Orphanet:295177"} xref: icd11.foundation:3040646 {source="MONDO:equivalentTo"} xref: MEDGEN:1741594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -398654,8 +398734,8 @@ consider: MONDO:0011348 id: MONDO:0017541 name: obsolete central polydactyly of toes, unilateral comment: Obsolete in Orphanet -synonym: "mesoaxial polydactyly of toes, unilateral" EXACT [Orphanet:295183] -synonym: "mirror foot, unilateral" EXACT [Orphanet:295183] +synonym: "mesoaxial polydactyly of toes, unilateral" EXACT [] +synonym: "mirror foot, unilateral" EXACT [] xref: ICD10CM:Q69.2 {source="Orphanet:295183", source="Orphanet:295183/attributed", source="Orphanet:295183/ntbt"} xref: Orphanet:295183 {source="MONDO:obsoleteEquivalentObsolete"} is_obsolete: true @@ -398665,8 +398745,8 @@ consider: MONDO:0011348 id: MONDO:0017542 name: obsolete central polydactyly of toes, bilateral comment: Obsolete in Orphanet -synonym: "mesoaxial polydactyly of toes, bilateral" EXACT [Orphanet:295185] -synonym: "mirror foot, bilateral" EXACT [Orphanet:295185] +synonym: "mesoaxial polydactyly of toes, bilateral" EXACT [] +synonym: "mirror foot, bilateral" EXACT [] xref: ICD10CM:Q69.2 {source="Orphanet:295185/attributed", source="Orphanet:295185/ntbt", source="Orphanet:295185"} xref: Orphanet:295185 {source="MONDO:obsoleteEquivalentObsolete"} is_obsolete: true @@ -398781,7 +398861,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "humero-radio-ulnar fusion, unilateral" EXACT [Orphanet:295205] +synonym: "humero-radio-ulnar fusion, unilateral" EXACT [] xref: ICD10CM:Q74.0 {source="Orphanet:295205", source="Orphanet:295205/attributed", source="Orphanet:295205/ntbt"} xref: icd11.foundation:322904301 {source="MONDO:equivalentTo"} xref: Orphanet:295205 {source="MONDO:equivalentObsolete"} @@ -398794,7 +398874,7 @@ id: MONDO:0017549 name: humero-radio-ulnar synostosis, bilateral subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "humero-radio-ulnar fusion, bilateral" EXACT [Orphanet:295207] +synonym: "humero-radio-ulnar fusion, bilateral" EXACT [] xref: ICD10CM:Q74.0 {source="Orphanet:295207/attributed", source="Orphanet:295207/ntbt", source="Orphanet:295207"} xref: icd11.foundation:557249772 {source="MONDO:equivalentTo"} xref: MEDGEN:1744773 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -398809,7 +398889,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "humero-radial fusion, unilateral" EXACT [Orphanet:295209] +synonym: "humero-radial fusion, unilateral" EXACT [] xref: ICD10CM:Q74.0 {source="Orphanet:295209/attributed", source="Orphanet:295209/ntbt", source="Orphanet:295209"} xref: icd11.foundation:695744743 {source="MONDO:equivalentTo"} xref: Orphanet:295209 {source="MONDO:equivalentObsolete"} @@ -398824,7 +398904,7 @@ comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Te subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: rare -synonym: "humero-radial fusion, bilateral" EXACT [Orphanet:295211] +synonym: "humero-radial fusion, bilateral" EXACT [] xref: ICD10CM:Q74.0 {source="Orphanet:295211", source="Orphanet:295211/attributed", source="Orphanet:295211/ntbt"} xref: icd11.foundation:1424025632 {source="MONDO:equivalentTo"} xref: Orphanet:295211 {source="MONDO:equivalentObsolete"} @@ -398838,7 +398918,7 @@ name: humero-ulnar synostosis, unilateral subset: gard_rare {source="GARD:21219", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "humero-ulnar fusion, unilateral" EXACT [Orphanet:295213] +synonym: "humero-ulnar fusion, unilateral" EXACT [] xref: GARD:21219 {source="MONDO:GARD"} xref: ICD10CM:Q74.0 {source="Orphanet:295213", source="Orphanet:295213/attributed", source="Orphanet:295213/ntbt"} xref: icd11.foundation:1726561305 {source="MONDO:equivalentTo"} @@ -398853,7 +398933,7 @@ name: humero-ulnar synostosis, bilateral subset: gard_rare {source="GARD:21220", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "humero-ulnar fusion, bilateral" EXACT [Orphanet:295215] +synonym: "humero-ulnar fusion, bilateral" EXACT [] xref: GARD:21220 {source="MONDO:GARD"} xref: ICD10CM:Q74.0 {source="Orphanet:295215/attributed", source="Orphanet:295215/ntbt", source="Orphanet:295215"} xref: icd11.foundation:1331627150 {source="MONDO:equivalentTo"} @@ -398868,7 +398948,7 @@ name: radio-ulnar synostosis, unilateral subset: gard_rare {source="GARD:21221", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "radio-ulnar fusion, unilateral" EXACT [Orphanet:295217] +synonym: "radio-ulnar fusion, unilateral" EXACT [] xref: GARD:21221 {source="MONDO:GARD"} xref: ICD10CM:Q74.0 {source="Orphanet:295217/attributed", source="Orphanet:295217/ntbt", source="Orphanet:295217"} xref: icd11.foundation:2026644976 {source="MONDO:equivalentTo"} @@ -398883,7 +398963,7 @@ name: radio-ulnar synostosis, bilateral subset: gard_rare {source="GARD:21222", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "radio-ulnar fusion, bilateral" EXACT [Orphanet:295219] +synonym: "radio-ulnar fusion, bilateral" EXACT [] xref: GARD:21222 {source="MONDO:GARD"} xref: ICD10CM:Q74.0 {source="Orphanet:295219/attributed", source="Orphanet:295219/ntbt", source="Orphanet:295219"} xref: icd11.foundation:1515190165 {source="MONDO:equivalentTo"} @@ -399118,12 +399198,12 @@ subset: ordo_disorder {source="Orphanet:2962"} subset: orphanet_rare {source="Orphanet:2962"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive cutis laxa type III" RELATED [DOID:0070143] +synonym: "autosomal recessive cutis laxa type III" RELATED [] synonym: "corneal clouding, cutis laxa and intellectual disability" RELATED [GARD:0000049] synonym: "corneal clouding, cutis laxa and mental retardation" RELATED DEPRECATED [GARD:0000049] synonym: "cutis laxa growth deficiency syndrome" RELATED [GARD:0000049] synonym: "cutis laxa-corneal clouding-intellectual disability syndrome" EXACT [DOID:0070143, Orphanet:2962] -synonym: "De Barsy syndrome" EXACT [DOID:0070143] +synonym: "De Barsy syndrome" EXACT [DOID:0070143, Orphanet:2962] synonym: "progeroid syndrome of de Barsy" RELATED [GARD:0000049] synonym: "progeroid syndrome, De Barsy type" EXACT [Orphanet:2962] synonym: "progeroid syndrome, de Barsy type" RELATED [GARD:0000049] @@ -399159,7 +399239,7 @@ subset: orphanet_rare {source="Orphanet:2968"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital leukocyte adherence deficiency" EXACT [DOID:6612] -synonym: "LAD" BROAD ABBREVIATION [Orphanet:2968] +synonym: "LAD" BROAD ABBREVIATION [] xref: DOID:6612 {source="MONDO:equivalentTo"} xref: GARD:16616 {source="MONDO:GARD"} xref: ICD10CM:D84.8 {source="DOID:6612", source="Orphanet:2968", source="Orphanet:2968/attributed", source="Orphanet:2968/ntbt"} @@ -399186,7 +399266,7 @@ subset: ordo_disorder {source="Orphanet:2969"} subset: orphanet_rare {source="Orphanet:2969"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cohen-Hayden syndrome" EXACT [Orphanet:2969] +synonym: "Cohen-Hayden syndrome" EXACT [] synonym: "Proteus like syndrome intellectual disability eye defect" RELATED [GARD:0004525] synonym: "Proteus like syndrome mental retardation eye defect" RELATED DEPRECATED [GARD:0004525] xref: GARD:12801 {source="MONDO:GARD"} @@ -399264,7 +399344,7 @@ subset: ordo_disorder {source="Orphanet:2973"} subset: ordo_malformation_syndrome {source="Orphanet:2973"} subset: orphanet_rare {source="Orphanet:2973"} subset: rare -synonym: "female pseudohermaphroditism-anorectal anomalies syndrome" EXACT [Orphanet:2973] +synonym: "female pseudohermaphroditism-anorectal anomalies syndrome" EXACT [] xref: GARD:18782 {source="MONDO:GARD"} xref: ICD10CM:Q56.2 {source="Orphanet:2973/attributed", source="Orphanet:2973/ntbt", source="Orphanet:2973"} xref: MEDGEN:1382292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -399287,7 +399367,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Chronic Intestinal Pseudo-Obstruction" EXACT [NORD:970] synonym: "chronic intestinal pseudo-obstruction" EXACT [MONDO:design_pattern] -synonym: "cipo" EXACT [Orphanet:2978] +synonym: "CIPO" EXACT ABBREVIATION [Orphanet:2978] +synonym: "cipo" EXACT [] synonym: "intestinal pseudo-obstruction, chronic" EXACT [MONDO:patterns/chronic] xref: GARD:12744 {source="MONDO:GARD"} xref: ICD10CM:K59.8 {source="Orphanet:2978/attributed", source="Orphanet:2978/ntbt", source="Orphanet:2978"} @@ -399313,11 +399394,11 @@ subset: ordo_disorder {source="Orphanet:298"} subset: orphanet_rare {source="Orphanet:298"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Mitochondrial Neurogastrointestinal Encephalopathy" EXACT [NORD:1449] +synonym: "Mitochondrial Neurogastrointestinal Encephalopathy" EXACT [NCIT:C119678, NORD:1449] synonym: "Mitochondrial neurogastrointestinal encephalopathy" EXACT [NCIT:C119678] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome" RELATED [GARD:0009920] -synonym: "mitochondrial Neurogastrointestingal encephalopathy" EXACT [NCIT:C119678] -synonym: "MNGIE" EXACT ABBREVIATION [GARD:0009920, Orphanet:298] +synonym: "mitochondrial Neurogastrointestingal encephalopathy" EXACT [] +synonym: "MNGIE" EXACT ABBREVIATION [GARD:0009920, NCIT:C119678, Orphanet:298] synonym: "MNGIE syndrome" RELATED [GARD:0009920] synonym: "myoneurogastrointestinal encephalopathy syndrome" RELATED [GARD:0009920] synonym: "oculogastrointestinal muscular dystrophy" RELATED [GARD:0009920] @@ -399353,8 +399434,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "46,XX differences of Sex development" EXACT [NCIT:C127169] synonym: "46,XX disorders of Sex development" EXACT [NCIT:C127169] -synonym: "46,XX DSD" EXACT [Orphanet:2982] -synonym: "female pseudohermaphroditism" EXACT [Orphanet:2982] +synonym: "46,XX DSD" EXACT [NCIT:C127169, Orphanet:2982] +synonym: "female pseudohermaphroditism" EXACT [] xref: GARD:18783 {source="MONDO:GARD"} xref: ICD10CM:Q56.2 {source="Orphanet:2982", source="Orphanet:2982/ntbt"} xref: MEDGEN:424728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -399415,7 +399496,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2995"} subset: orphanet_rare {source="Orphanet:2995"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Baraitser-Winter syndrome" EXACT [MONDO:0000719, Orphanet:2995] +synonym: "Baraitser-Winter syndrome" EXACT [DOID:0060229, MONDO:0000719, OMIMPS:243310] synonym: "BRWS" RELATED ABBREVIATION [GARD:0005279] synonym: "cerebro-frontofacial syndrome, type 3" RELATED [GARD:0005279] synonym: "Fryns-Aftimos syndrome" RELATED [GARD:0005279] @@ -399471,10 +399552,10 @@ id: MONDO:0017581 name: obsolete familial infantile gigantism subset: ordo_disorder {source="Orphanet:300373"} subset: otar {source="MONDO:OTAR"} -synonym: "hereditary infantile gigantism" EXACT [Orphanet:300373] -synonym: "hereditary pituitary hyperplasia" EXACT [Orphanet:300373] -synonym: "infantile gigantism due to pituitary hyperplasia" EXACT [Orphanet:300373] -synonym: "X-LAG (X-linked acrogigantism)" EXACT [Orphanet:300373] +synonym: "hereditary infantile gigantism" EXACT [] +synonym: "hereditary pituitary hyperplasia" EXACT [] +synonym: "infantile gigantism due to pituitary hyperplasia" EXACT [] +synonym: "X-LAG (X-linked acrogigantism)" EXACT [] xref: ICD10CM:E22.0 {source="Orphanet:300373/attributed", source="Orphanet:300373/ntbt", source="Orphanet:300373"} xref: Orphanet:300373 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -399492,19 +399573,19 @@ subset: ordo_disorder {source="Orphanet:300385"} subset: orphanet_rare {source="Orphanet:300385"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of pituitary" BROAD [NCIT:C4536] -synonym: "cancer of pituitary gland" BROAD [NCIT:C4536] -synonym: "cancer of the pituitary" BROAD [NCIT:C4536] -synonym: "cancer of the pituitary gland" BROAD [NCIT:C4536] +synonym: "cancer of pituitary" BROAD [] +synonym: "cancer of pituitary gland" BROAD [] +synonym: "cancer of the pituitary" BROAD [] +synonym: "cancer of the pituitary gland" BROAD [] synonym: "carcinoma of pituitary" EXACT [NCIT:C4536] synonym: "carcinoma of pituitary gland" EXACT [NCIT:C4536] synonym: "carcinoma of the pituitary" EXACT [NCIT:C4536] synonym: "carcinoma of the pituitary gland" EXACT [DOID:4916, NCIT:C4536] synonym: "pituitary adenocarcinoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "pituitary carcinoma" EXACT [MONDO:ambiguous, NCIT:C4536] +synonym: "pituitary carcinoma" EXACT [DOID:4916, MONDO:ambiguous, NCIT:C4536, Orphanet:300385] synonym: "pituitary gland adenocarcinoma" EXACT [MONDO:patterns/location, NCIT:C4536] -synonym: "pituitary gland cancer" BROAD [NCIT:C4536] -synonym: "pituitary gland cancer, NOS" BROAD EXCLUDE [NCIT:C4536] +synonym: "pituitary gland cancer" BROAD [] +synonym: "pituitary gland cancer, NOS" BROAD EXCLUDE [] synonym: "pituitary gland carcinoma" EXACT [NCIT:C4536] synonym: "PTCA" RELATED ABBREVIATION [ONCOTREE:PTCA] xref: DOID:4916 {source="MONDO:equivalentTo"} @@ -399631,7 +399712,7 @@ synonym: "nail neoplasm" EXACT [] synonym: "nail neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nail tumor" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of nail" EXACT [MONDO:patterns/neoplasm] -synonym: "rare nail tumor" RELATED [Orphanet:300515] +synonym: "rare nail tumor" RELATED [] synonym: "rare nail tumour" RELATED OMO:0003005 [] synonym: "tumor of nail" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of nail" EXACT OMO:0003005 [] @@ -399671,12 +399752,12 @@ subset: orphanet_rare {source="Orphanet:300557"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AMPCA" RELATED ABBREVIATION [ONCOTREE:AMPCA] -synonym: "ampulla of Vater cancer" EXACT [NCIT:C3908] -synonym: "ampulla of Vater carcinoma" EXACT [MONDO:0006080, NCIT:C3908] -synonym: "ampullary cancer" EXACT [NCIT:C3908] -synonym: "ampullary carcinoma" EXACT [NCIT:C3908, Orphanet:300557] +synonym: "ampulla of Vater cancer" EXACT [DOID:4932, icd11.foundation:267067189, NCIT:C3908] +synonym: "ampulla of Vater carcinoma" EXACT [DOID:4932, MONDO:0006080, NCIT:C3908] +synonym: "ampullary cancer" EXACT [icd11.foundation:267067189] +synonym: "ampullary carcinoma" EXACT [DOID:4932, NCIT:C3908, Orphanet:300557] synonym: "Ampulloma" EXACT [Orphanet:300557] -synonym: "carcinoma of ampulla of vater" EXACT [DOID:4932] +synonym: "carcinoma of ampulla of vater" EXACT [DOID:4932, icd11.foundation:267067189] synonym: "carcinoma of hepatopancreatic ampulla" EXACT [MONDO:patterns/carcinoma] synonym: "hepatopancreatic ampulla carcinoma" EXACT [MONDO:patterns/location] xref: DOID:4932 {source="MONDO:equivalentTo"} @@ -399804,7 +399885,7 @@ synonym: "central nervous system diffuse large B-cell lymphoma" EXACT [MONDO:pat synonym: "CNS DLBCL" EXACT [NCIT:C71720] synonym: "diffuse large B-cell lymphoma of central nervous system" EXACT [MONDO:design_pattern] synonym: "DLBCL of the CNS" EXACT [Orphanet:300849] -synonym: "primary diffuse large B-cell lymphoma of the central nervous system" EXACT [NCIT:C71720] +synonym: "primary diffuse large B-cell lymphoma of the central nervous system" EXACT [DOID:0081313, NCIT:C71720] synonym: "primary DLBCL of the CNS" EXACT [NCIT:C71720] xref: DOID:0081313 {source="MONDO:equivalentTo"} xref: GARD:21246 {source="MONDO:GARD"} @@ -399833,7 +399914,7 @@ subset: rare synonym: "T-cell rich/histiocyte-rich large B-cell lymphoma" EXACT [NCIT:C9496] synonym: "T-cell/histiocyte rich lymphoma" EXACT [NCIT:C9496] synonym: "T-cell/histiocyte-rich large B-cell lymphoma" EXACT [NCIT:C9496] -synonym: "THRLBCL" EXACT ABBREVIATION [ONCOTREE:THRLBCL, Orphanet:300857] +synonym: "THRLBCL" EXACT ABBREVIATION [NCIT:C9496, ONCOTREE:THRLBCL, Orphanet:300857] xref: GARD:12257 {source="MONDO:GARD"} xref: ICD10CM:C83.3 {source="Orphanet:300857", source="Orphanet:300857/ntbt"} xref: icd11.foundation:257833622 {source="MONDO:equivalentTo", source="Orphanet:300857", source="https://orcid.org/0000-0002-4142-7153"} @@ -399856,15 +399937,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:300865"} subset: orphanet_rare {source="Orphanet:300865"} subset: rare -synonym: "ALCL, cutaneous" EXACT [NCIT:C6860] -synonym: "anaplastic large-cell lymphoma, primary cutaneous type" EXACT [NCIT:C6860] -synonym: "C-ALCL" EXACT [NCIT:C6860] +synonym: "ALCL, cutaneous" EXACT [] +synonym: "anaplastic large-cell lymphoma, primary cutaneous type" EXACT [] +synonym: "C-ALCL" EXACT ABBREVIATION [NCIT:C6860] synonym: "primary anaplastic large cell lymphoma of skin" EXACT [NCIT:C6860] synonym: "primary anaplastic large cell lymphoma of the skin" EXACT [NCIT:C6860] synonym: "primary C-ALCL" EXACT [Orphanet:300865] synonym: "primary cutaneous CD30 Positive anaplastic large cell lymphoma" EXACT [NCIT:C6860] synonym: "primary cutaneous CD30+ ALCL" EXACT [NCIT:C6860] -synonym: "primary cutaneous CD30+ anaplastic large cell lymphoma" EXACT [NCIT:C6860] +synonym: "primary cutaneous CD30+ anaplastic large cell lymphoma" EXACT [icd11.foundation:1972636482, NCIT:C6860] synonym: "regressive atypical histiocytosis" EXACT [Orphanet:300865] xref: GARD:21247 {source="MONDO:GARD"} xref: ICD10CM:C86.6 {source="Orphanet:300865", source="Orphanet:300865/ntbt"} @@ -399913,8 +399994,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:300878"} subset: orphanet_rare {source="Orphanet:300878"} subset: rare -synonym: "hairy cell leukemia variant" EXACT [DOID:713, NCIT:C7401] -synonym: "HCL-V" EXACT [NCIT:C7401] +synonym: "hairy cell leukemia variant" EXACT [DOID:713, NCIT:C7401, Orphanet:300878] +synonym: "HCL-V" EXACT ABBREVIATION [DOID:713, NCIT:C7401, Orphanet:300878] synonym: "HCL-v" EXACT [MONDO:0004113, Orphanet:300878] synonym: "leukemic reticuloendotheliosis variant" EXACT [Orphanet:300878] synonym: "prolymphocytic variant of hairy cell leukaemia" EXACT OMO:0003005 [] @@ -399966,7 +400047,7 @@ subset: rare synonym: "ALCL, ALK+" EXACT [NCIT:C37193] synonym: "ALK+ ALCL" EXACT [Orphanet:300895] synonym: "ALK+ anaplastic large cell lymphoma" EXACT [Orphanet:300895] -synonym: "ALK-positive anaplastic large cell lymphoma" EXACT [NCIT:C37193] +synonym: "ALK-positive anaplastic large cell lymphoma" EXACT [NCIT:C37193, Orphanet:300895] synonym: "ALKoma" EXACT [NCIT:C37193] synonym: "anaplastic large cell lymphoma, ALK-positive" EXACT [NCIT:C37193] xref: GARD:21251 {source="MONDO:GARD"} @@ -399991,7 +400072,7 @@ subset: rare synonym: "ALCL, ALK-" EXACT [NCIT:C37194] synonym: "ALK- ALCL" EXACT [Orphanet:300903] synonym: "ALK- anaplastic large cell lymphoma" EXACT [Orphanet:300903] -synonym: "ALK-negative anaplastic large cell lymphoma" EXACT [NCIT:C37194] +synonym: "ALK-negative anaplastic large cell lymphoma" EXACT [NCIT:C37194, Orphanet:300903] synonym: "anaplastic large cell lymphoma, ALK-negative" EXACT [MONDO:0006083, NCIT:C37194] xref: EFO:1000083 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:21252 {source="MONDO:GARD"} @@ -400015,8 +400096,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lymphoma of marginal zone B cell" EXACT [MONDO:design_pattern] synonym: "marginal zone B cell lymphoma" EXACT [MONDO:patterns/location] -synonym: "marginal zone B-cell lymphoma" EXACT [MONDO:0006495, NCIT:C4341] -synonym: "marginal zone lymphoma" EXACT [DOID:0050748, NCIT:C4341] +synonym: "marginal zone B-cell lymphoma" EXACT [DOID:0050748, MONDO:0006495, NCIT:C4341] +synonym: "marginal zone lymphoma" EXACT [DOID:0050748, NCIT:C4341, Orphanet:300912] synonym: "MZBCL" EXACT ABBREVIATION [NCIT:C4341] synonym: "MZL" EXACT ABBREVIATION [NCIT:C4341] xref: DOID:0050748 {source="MONDO:equivalentTo"} @@ -400059,10 +400140,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:3027"} subset: orphanet_rare {source="Orphanet:3027"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "caudal dysplasia" EXACT [Orphanet:3027] -synonym: "Caudal Regression Syndrome" EXACT [NORD:902] -synonym: "sacral agenesis syndrome" EXACT [Orphanet:3027] -synonym: "sacral regression syndrome" EXACT [Orphanet:3027] +synonym: "caudal dysplasia" EXACT [NCIT:C124505, Orphanet:3027] +synonym: "Caudal Regression Syndrome" EXACT [DOID:0080700, NORD:902, Orphanet:3027] +synonym: "sacral agenesis syndrome" EXACT [] +synonym: "sacral regression syndrome" EXACT [] xref: DOID:0080700 {source="MONDO:equivalentTo"} xref: GARD:6007 {source="MONDO:GARD"} xref: ICD10CM:Q76.0 {source="Orphanet:3027/attributed", source="Orphanet:3027/ntbt", source="Orphanet:3027"} @@ -400098,7 +400179,7 @@ subset: orphanet_rare {source="Orphanet:3033"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "primitive renal tubule syndrome" EXACT [Orphanet:3033] -synonym: "renotubular dysgenesis" EXACT [Orphanet:3033] +synonym: "renotubular dysgenesis" EXACT [icd11.foundation:191424358, Orphanet:3033] xref: GARD:379 {source="MONDO:GARD"} xref: ICD10CM:Q63.8 {source="Orphanet:3033/ntbt", source="Orphanet:3033"} xref: icd11.foundation:191424358 {source="MONDO:equivalentTo", source="Orphanet:3033"} @@ -400119,9 +400200,9 @@ subset: ordo_group_of_disorders {source="Orphanet:304"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "EBS" EXACT ABBREVIATION [Orphanet:304] -synonym: "EEB" EXACT ABBREVIATION [Orphanet:304] +synonym: "EEB" EXACT ABBREVIATION [] synonym: "epidermolysis bullosa intraepidermic" RELATED [GARD:0010752] -synonym: "epidermolysis bullosa simplex" EXACT [DOID:4644] +synonym: "epidermolysis bullosa simplex" EXACT [DOID:4644, ICD10CM:Q81.0, icd11.foundation:1860717527, NCIT:C84692, OMIMPS:131760, Orphanet:304] xref: DOID:4644 {source="MONDO:equivalentTo"} xref: GARD:10752 {source="MONDO:GARD"} xref: ICD10CM:Q81.0 {source="Orphanet:304", source="DOID:4644", source="MONDO:equivalentTo", source="Orphanet:304/e", source="Orphanet:304/specific"} @@ -400161,7 +400242,7 @@ synonym: "pituitary gland neoplasm" EXACT [NCIT:C3330] synonym: "pituitary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3330] synonym: "pituitary gland tumour" EXACT OMO:0003005 [] synonym: "pituitary neoplasm" EXACT [NCIT:C3330] -synonym: "pituitary tumor" EXACT [NCIT:C3330] +synonym: "pituitary tumor" EXACT [NCIT:C3330, Orphanet:304055] synonym: "tumor of pituitary" EXACT [NCIT:C3330] synonym: "tumor of pituitary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3330] synonym: "tumor of the pituitary" EXACT [NCIT:C3330] @@ -400197,13 +400278,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:305"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital junctional epidermolysis bullosa" EXACT [] -synonym: "EBJ" EXACT ABBREVIATION [Orphanet:305] +synonym: "congenital junctional epidermolysis bullosa" EXACT [DOID:3209] +synonym: "EBJ" EXACT ABBREVIATION [] synonym: "epidermolysis bullosa atrophicans" EXACT [Orphanet:305] synonym: "epidermolysis bullosa hereditaria letalis" RELATED [] synonym: "epidermolysis bullosa, junctional" RELATED [GARD:0002152] synonym: "JEB" EXACT ABBREVIATION [Orphanet:305] -synonym: "junctional epidermolysis bullosa" EXACT CLINGEN_LABEL [] +synonym: "junctional epidermolysis bullosa" EXACT CLINGEN_LABEL [DOID:3209, icd11.foundation:1501260457, NCIT:C90598, Orphanet:305] xref: DOID:3209 {source="MONDO:equivalentTo"} xref: GARD:2152 {source="MONDO:GARD"} xref: icd11.foundation:1501260457 {source="Orphanet:305", source="MONDO:equivalentTo"} @@ -400230,7 +400311,7 @@ name: intellectual disability-hypotonia-skin hyperpigmentation syndrome comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - subset: obsoletion_candidate synonym: "Medrano Roldan syndrome" RELATED [GARD:0003441] -synonym: "Medrano-Roldan syndrome" EXACT [Orphanet:3050] +synonym: "Medrano-Roldan syndrome" EXACT [] xref: Orphanet:3050 {source="MONDO:equivalentObsolete", source="GARD:0003441"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:3050", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -400341,10 +400422,10 @@ id: MONDO:0017618 name: congenital sucrase-isomaltase deficiency with starch intolerance subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "congenital sucrase-isomaltose malabsorption with starch intolerance" EXACT [Orphanet:306436] -synonym: "congenital sucrose intolerance with starch intolerance" EXACT [Orphanet:306436] -synonym: "CSID with starch intolerance" EXACT [Orphanet:306436] -synonym: "disaccharide intolerance with starch intolerance" EXACT [Orphanet:306436] +synonym: "congenital sucrase-isomaltose malabsorption with starch intolerance" EXACT [] +synonym: "congenital sucrose intolerance with starch intolerance" EXACT [] +synonym: "CSID with starch intolerance" EXACT [] +synonym: "disaccharide intolerance with starch intolerance" EXACT [] xref: ICD10CM:E74.3 {source="Orphanet:306436", source="Orphanet:306436/attributed", source="Orphanet:306436/ntbt"} xref: Orphanet:306436 {source="MONDO:equivalentObsolete"} is_a: MONDO:0009114 {source="Orphanet:306436"} ! congenital sucrase-isomaltase deficiency @@ -400358,10 +400439,10 @@ id: MONDO:0017619 name: congenital sucrase-isomaltase deficiency with minimal starch tolerance subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "congenital sucrase-isomaltose malabsorption with minimal starch tolerance" EXACT [Orphanet:306446] -synonym: "congenital sucrose intolerance with minimal starch tolerance" EXACT [Orphanet:306446] -synonym: "CSID with minimal starch tolerance" EXACT [Orphanet:306446] -synonym: "disaccharide intolerance with minimal starch tolerance" EXACT [Orphanet:306446] +synonym: "congenital sucrase-isomaltose malabsorption with minimal starch tolerance" EXACT [] +synonym: "congenital sucrose intolerance with minimal starch tolerance" EXACT [] +synonym: "CSID with minimal starch tolerance" EXACT [] +synonym: "disaccharide intolerance with minimal starch tolerance" EXACT [] xref: ICD10CM:E74.3 {source="Orphanet:306446/attributed", source="Orphanet:306446/ntbt", source="Orphanet:306446"} xref: Orphanet:306446 {source="MONDO:equivalentObsolete"} is_a: MONDO:0009114 {source="Orphanet:306446"} ! congenital sucrase-isomaltase deficiency @@ -400375,10 +400456,10 @@ id: MONDO:0017620 name: congenital sucrase-isomaltase deficiency without starch intolerance subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "congenital sucrase-isomaltose malabsorption without starch intolerance" EXACT [Orphanet:306462] -synonym: "congenital sucrose intolerance without starch intolerance" EXACT [Orphanet:306462] -synonym: "CSID without starch intolerance" EXACT [Orphanet:306462] -synonym: "disaccharide intolerance without starch intolerance" EXACT [Orphanet:306462] +synonym: "congenital sucrase-isomaltose malabsorption without starch intolerance" EXACT [] +synonym: "congenital sucrose intolerance without starch intolerance" EXACT [] +synonym: "CSID without starch intolerance" EXACT [] +synonym: "disaccharide intolerance without starch intolerance" EXACT [] xref: ICD10CM:E74.3 {source="Orphanet:306462", source="Orphanet:306462/attributed", source="Orphanet:306462/ntbt"} xref: Orphanet:306462 {source="MONDO:equivalentObsolete"} is_a: MONDO:0009114 {source="Orphanet:306462"} ! congenital sucrase-isomaltase deficiency @@ -400393,10 +400474,10 @@ id: MONDO:0017621 name: congenital sucrase-isomaltase deficiency with starch and lactose intolerance subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "congenital sucrase-isomaltose malabsorption with starch and lactose intolerance" EXACT [Orphanet:306474] -synonym: "congenital sucrose intolerance with starch and lactose intolerance" EXACT [Orphanet:306474] -synonym: "CSID with starch and lactose intolerance" EXACT [Orphanet:306474] -synonym: "disaccharide intolerance with starch and lactose intolerance" EXACT [Orphanet:306474] +synonym: "congenital sucrase-isomaltose malabsorption with starch and lactose intolerance" EXACT [] +synonym: "congenital sucrose intolerance with starch and lactose intolerance" EXACT [] +synonym: "CSID with starch and lactose intolerance" EXACT [] +synonym: "disaccharide intolerance with starch and lactose intolerance" EXACT [] xref: ICD10CM:E74.3 {source="Orphanet:306474/attributed", source="Orphanet:306474/ntbt", source="Orphanet:306474"} xref: Orphanet:306474 {source="MONDO:equivalentObsolete"} is_a: MONDO:0009114 {source="Orphanet:306474"} ! congenital sucrase-isomaltase deficiency @@ -400411,9 +400492,9 @@ id: MONDO:0017622 name: congenital sucrase-isomaltase deficiency without sucrose intolerance subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "congenital sucrose-isomaltose malabsorption without sucrose intolerance" EXACT [Orphanet:306486] -synonym: "CSID without sucrose intolerance" EXACT [Orphanet:306486] -synonym: "disaccharide intolerance without sucrose intolerance" EXACT [Orphanet:306486] +synonym: "congenital sucrose-isomaltose malabsorption without sucrose intolerance" EXACT [] +synonym: "CSID without sucrose intolerance" EXACT [] +synonym: "disaccharide intolerance without sucrose intolerance" EXACT [] xref: ICD10CM:E74.3 {source="Orphanet:306486", source="Orphanet:306486/attributed", source="Orphanet:306486/ntbt"} xref: Orphanet:306486 {source="MONDO:equivalentObsolete"} is_a: MONDO:0009114 {source="Orphanet:306486"} ! congenital sucrase-isomaltase deficiency @@ -400433,8 +400514,8 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1631"} subset: ordo_group_of_disorders {source="Orphanet:306498"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PHTS" EXACT ABBREVIATION [Orphanet:306498] -synonym: "PTEN hamartoma tumor syndrome" EXACT CLINGEN_LABEL [] +synonym: "PHTS" EXACT ABBREVIATION [NCIT:C179915, Orphanet:306498] +synonym: "PTEN hamartoma tumor syndrome" EXACT CLINGEN_LABEL [DOID:0080191, NCIT:C179915, Orphanet:306498] xref: DOID:0080191 {source="MONDO:equivalentTo"} xref: GARD:12800 {source="MONDO:GARD"} xref: MEDGEN:368366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -400571,7 +400652,7 @@ id: MONDO:0017631 name: obsolete rare tumor of gallbladder and extrahepatic biliary tract subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306633"} -synonym: "rare tumor of gallbladder and EBT" EXACT [Orphanet:306633] +synonym: "rare tumor of gallbladder and EBT" EXACT [] xref: Orphanet:306633 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -400585,7 +400666,7 @@ def: "OBSOLETE. Any of the forms of liver and intrahepatic bile duct neoplasm th subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:306636"} synonym: "rare liver and intrahepatic bile duct neoplasm" EXACT [MONDO:patterns/rare] -synonym: "rare tumor of liver and IBT" EXACT [Orphanet:306636] +synonym: "rare tumor of liver and IBT" EXACT [] xref: Orphanet:306636 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -400693,7 +400774,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:306686"} subset: orphanet_rare {source="Orphanet:306686"} subset: rare -synonym: "CO-induced parkinsonism" EXACT [Orphanet:306686] +synonym: "CO-induced parkinsonism" EXACT [] xref: GARD:21265 {source="MONDO:GARD"} xref: ICD10CM:G21.2 {source="Orphanet:306686/ntbt", source="Orphanet:306686"} xref: MEDGEN:581450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -400957,7 +401038,7 @@ id: MONDO:0017660 name: obsolete rare genetic parkinsonian disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307052"} -synonym: "rare genetic hypokinetic movement disorder" EXACT [Orphanet:307052] +synonym: "rare genetic hypokinetic movement disorder" EXACT [] xref: Orphanet:307052 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -401045,9 +401126,9 @@ id: MONDO:0017667 name: obsolete isolated diffuse palmoplantar keratoderma def: "OBSOLETE. A diffuse palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: ordo_group_of_disorders {source="Orphanet:307148"} -synonym: "isolated diffuse keratosis palmoplantaris" EXACT [Orphanet:307148] -synonym: "isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:307148] -synonym: "isolated diffuse PPK" EXACT [Orphanet:307148] +synonym: "isolated diffuse keratosis palmoplantaris" EXACT [] +synonym: "isolated diffuse palmoplantar hyperkeratosis" EXACT [] +synonym: "isolated diffuse PPK" EXACT [] synonym: "nonsyndromic diffuse palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] xref: ICD10CM:Q82.8 {source="Orphanet:307148/attributed", source="Orphanet:307148/ntbt", source="Orphanet:307148"} xref: Orphanet:307148 {source="MONDO:obsoleteEquivalent"} @@ -401071,7 +401152,7 @@ subset: rare synonym: "intellectual deficit - short stature - hypertelorism" RELATED [GARD:0003514] synonym: "intellectual disability short stature hypertelorism" RELATED [GARD:0003514] synonym: "mental retardation short stature hypertelorism" RELATED DEPRECATED [GARD:0003514] -synonym: "Stoll-GC)raudel-Chauvin syndrome" EXACT [GARD:0003514, Orphanet:3074] +synonym: "Stoll-GC)raudel-Chauvin syndrome" EXACT [GARD:0003514] synonym: "Stoll-Géraudel-Chauvin syndrome" RELATED [GARD:0003514] xref: GARD:3514 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:3074/attributed", source="Orphanet:3074/ntbt", source="Orphanet:3074"} @@ -401088,7 +401169,7 @@ id: MONDO:0017669 name: obsolete disease with diffuse palmoplantar keratoderma as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307711"} -synonym: "disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307711] +synonym: "disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [] xref: ICD10CM:Q82.8 {source="Orphanet:307711/attributed", source="Orphanet:307711/ntbt", source="Orphanet:307711"} xref: Orphanet:307711 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -401100,7 +401181,7 @@ is_obsolete: true id: MONDO:0017670 name: obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma subset: ordo_group_of_disorders {source="Orphanet:307773"} -synonym: "autosomal dominant diffuse mutilating palmoplantar hyperkeratosis" EXACT [Orphanet:307773] +synonym: "autosomal dominant diffuse mutilating palmoplantar hyperkeratosis" EXACT [] xref: ICD10CM:Q82.8 {source="Orphanet:307773", source="Orphanet:307773/attributed", source="Orphanet:307773/ntbt"} xref: Orphanet:307773 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -401115,7 +401196,7 @@ id: MONDO:0017671 name: obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307804"} -synonym: "autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307804] +synonym: "autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [] xref: ICD10CM:Q82.8 {source="Orphanet:307804/attributed", source="Orphanet:307804/ntbt", source="Orphanet:307804"} xref: Orphanet:307804 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -401147,9 +401228,9 @@ id: MONDO:0017673 name: obsolete isolated focal palmoplantar keratoderma def: "OBSOLETE. A focal palmoplantar keratoderma that is not part of a larger syndrome." [MONDO:patterns/isolated] subset: ordo_group_of_disorders {source="Orphanet:307846"} -synonym: "isolated focal keratosis palmoplantaris" EXACT [Orphanet:307846] -synonym: "isolated focal palmoplantar hyperkeratosis" EXACT [Orphanet:307846] -synonym: "isolated focal PPK" EXACT [Orphanet:307846] +synonym: "isolated focal keratosis palmoplantaris" EXACT [] +synonym: "isolated focal palmoplantar hyperkeratosis" EXACT [] +synonym: "isolated focal PPK" EXACT [] synonym: "nonsyndromic focal palmoplantar keratoderma" EXACT [MONDO:patterns/isolated] xref: ICD10CM:Q82.8 {source="Orphanet:307846/attributed", source="Orphanet:307846/ntbt", source="Orphanet:307846"} xref: Orphanet:307846 {source="MONDO:obsoleteEquivalent"} @@ -401166,7 +401247,7 @@ name: obsolete disease with focal palmoplantar keratoderma as a major feature def: "OBSOLETE. A disease in which focal palmoplantar keratoderma is a major feature.." [https://orcid.org/0000-0002-6601-2165] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:307871"} -synonym: "disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:307871] +synonym: "disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [] xref: ICD10CM:Q82.8 {source="Orphanet:307871/attributed", source="Orphanet:307871/ntbt", source="Orphanet:307871"} xref: Orphanet:307871 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -401184,7 +401265,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:307967"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "punctate keratosis palmoplantaris" EXACT [DOID:0060361, Orphanet:307967] +synonym: "punctate keratosis palmoplantaris" EXACT [Orphanet:307967] synonym: "punctate palmoplantar hyperkeratosis" EXACT [DOID:0060361, Orphanet:307967] synonym: "punctate PPK" EXACT [Orphanet:307967] xref: DOID:0060361 {source="MONDO:equivalentTo"} @@ -401201,7 +401282,7 @@ is_a: MONDO:0019272 {source="Orphanet:307967"} ! hereditary palmoplantar keratod id: MONDO:0017676 name: obsolete marginal papular palmoplantar keratoderma subset: ordo_group_of_disorders {source="Orphanet:307995"} -synonym: "marginal papular palmoplantar hyperkeratosis" EXACT [Orphanet:307995] +synonym: "marginal papular palmoplantar hyperkeratosis" EXACT [] xref: ICD10CM:Q82.8 {source="Orphanet:307995/attributed", source="Orphanet:307995/ntbt", source="Orphanet:307995"} xref: Orphanet:307995 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -401239,7 +401320,7 @@ name: obsolete obsolete disease with punctate palmoplantar keratoderma as a majo def: "OBSOLETE. A disease in which punctate palmoplantar keratoderma is a major feature.." [https://orcid.org/0000-0002-6601-2165] comment: This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. subset: ordo_group_of_disorders {source="Orphanet:308023"} -synonym: "disease with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308023] +synonym: "disease with punctate palmoplantar hyperkeratosis as a major feature" EXACT [] xref: Orphanet:308023 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1521" xsd:anyURI @@ -401251,7 +401332,7 @@ id: MONDO:0017679 name: obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature comment: This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. subset: ordo_group_of_disorders {source="Orphanet:308031"} -synonym: "autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308031] +synonym: "autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [] xref: Orphanet:308031 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -401262,7 +401343,7 @@ is_obsolete: true id: MONDO:0017680 name: obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature subset: ordo_group_of_disorders {source="Orphanet:308041"} -synonym: "autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:308041] +synonym: "autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature" EXACT [] xref: Orphanet:308041 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/pull/2317" xsd:anyURI is_obsolete: true @@ -401357,7 +401438,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:21304", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:308448"} subset: rare -synonym: "aminoacylase deficiency" RELATED [Orphanet:308448] +synonym: "aminoacylase deficiency" RELATED [] synonym: "inborn aminoacylase activity disorder" EXACT [] synonym: "inborn error of aminoacylase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "rare inborn error of aminoacylase activity" EXACT [MONDO:patterns/inborn_metabolic] @@ -401499,8 +401580,8 @@ name: obsolete glycogen storage disease due to glycogen synthase deficiency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease' subset: ordo_group_of_disorders {source="Orphanet:308520"} synonym: "glycogen storage disease type 0" EXACT [Wikipedia:Glycogen_storage_disease_type_0] -synonym: "glycogenosis due to glycogen synthase deficiency" EXACT [Orphanet:308520] -synonym: "GSD due to glycogen synthase deficiency" EXACT [Orphanet:308520] +synonym: "glycogenosis due to glycogen synthase deficiency" EXACT [] +synonym: "GSD due to glycogen synthase deficiency" EXACT [] synonym: "GSD0" EXACT ABBREVIATION [Wikipedia:Glycogen_storage_disease_type_0] xref: ICD10CM:E74.0 {source="Orphanet:308520/attributed", source="Orphanet:308520/ntbt", source="Orphanet:308520"} xref: NANDO:1200824 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -401520,10 +401601,10 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:308552"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alpha-1,4-glucosidase acid deficiency, infantile onset" EXACT [Orphanet:308552] -synonym: "glycogen storage disease type 2, infantile onset" EXACT [Orphanet:308552] +synonym: "glycogen storage disease type 2, infantile onset" EXACT [icd11.foundation:1496243702, Orphanet:308552] synonym: "glycogen storage disease type II, infantile onset" EXACT [Orphanet:308552] synonym: "glycogenosis due to acid maltase deficiency, infantile onset" EXACT [Orphanet:308552] -synonym: "glycogenosis type 2, infantile onset" EXACT [Orphanet:308552] +synonym: "glycogenosis type 2, infantile onset" EXACT [icd11.foundation:1496243702, Orphanet:308552] synonym: "glycogenosis type II, infantile onset" EXACT [Orphanet:308552] synonym: "GSD due to acid maltase deficiency, infantile onset" EXACT [Orphanet:308552] synonym: "GSD type 2, infantile onset" EXACT [Orphanet:308552] @@ -402009,7 +402090,7 @@ subset: gard_rare {source="GARD:12510", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:309144"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mucolipidosis type IV" RELATED EXCLUDE [DOID:2368] +synonym: "mucolipidosis type IV" RELATED EXCLUDE [] xref: DOID:2368 {source="MONDO:equivalentTo"} xref: GARD:12510 {source="MONDO:GARD"} xref: ICD10CM:E75.0 {source="Orphanet:309144", source="Orphanet:309144/specific", source="Orphanet:309144/btnt"} @@ -402033,9 +402114,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:309152"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gangliosidosis GM2" EXACT [MONDO:0002608] +synonym: "gangliosidosis GM2" EXACT [DOID:3321, MONDO:0002608] synonym: "GM2-gangliosidosis, B, B1, AB variant" RELATED [GARD:0002522] -synonym: "GM>2< gangliosidosis" EXACT [DOID:3321] +synonym: "GM>2< gangliosidosis" EXACT [] xref: DOID:3321 {source="MONDO:equivalentTo"} xref: GARD:21323 {source="MONDO:GARD"} xref: ICD10CM:E75.0 {source="DOID:3321", source="Orphanet:309152", source="MONDO:equivalentTo", source="Orphanet:309152/specific", source="Orphanet:309152/e"} @@ -402059,8 +402140,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309155"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Hexosaminidases A and B deficiency, infantile form" EXACT [Orphanet:309155] -synonym: "infantile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309155] +synonym: "Hexosaminidases A and B deficiency, infantile form" EXACT [] +synonym: "infantile GM2 gangliosidosis 0 variant" EXACT [] xref: GARD:7604 {source="MONDO:GARD"} xref: ICD10CM:E75.0 {source="Orphanet:309155", source="Orphanet:309155/attributed", source="Orphanet:309155/ntbt"} xref: MEDGEN:199669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -402077,8 +402158,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309162"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Hexosaminidases A and B deficiency, juvenile form" EXACT [Orphanet:309162] -synonym: "juvenile GM2 gangliosidosis 0 variant" EXACT [Orphanet:309162] +synonym: "Hexosaminidases A and B deficiency, juvenile form" EXACT [] +synonym: "juvenile GM2 gangliosidosis 0 variant" EXACT [] xref: GARD:17404 {source="MONDO:GARD"} xref: ICD10CM:E75.0 {source="Orphanet:309162", source="Orphanet:309162/attributed", source="Orphanet:309162/ntbt"} xref: MEDGEN:148320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -402096,9 +402177,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309169"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult GM2 gangliosidosis 0 variant" EXACT [Orphanet:309169] +synonym: "adult GM2 gangliosidosis 0 variant" EXACT [] synonym: "adult Sandhoff disease" EXACT [MONDO:design_pattern] -synonym: "Hexosaminidases A and B deficiency, adult form" EXACT [Orphanet:309169] +synonym: "Hexosaminidases A and B deficiency, adult form" EXACT [] synonym: "Sandhoff disease of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: GARD:17405 {source="MONDO:GARD"} xref: ICD10CM:E75.0 {source="Orphanet:309169/attributed", source="Orphanet:309169/ntbt", source="Orphanet:309169"} @@ -402118,8 +402199,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309178"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GM2 gangliosidosis, B variant, infantile form" EXACT [Orphanet:309178] -synonym: "hexosaminidase A deficiency, infantile form" EXACT [Orphanet:309178] +synonym: "GM2 gangliosidosis, B variant, infantile form" EXACT [] +synonym: "hexosaminidase A deficiency, infantile form" EXACT [] xref: GARD:21324 {source="MONDO:GARD"} xref: ICD10CM:E75.0 {source="Orphanet:309178", source="Orphanet:309178/attributed", source="Orphanet:309178/ntbt"} xref: MEDGEN:1842824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -402136,8 +402217,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309185"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GM2 gangliosidosis, B variant, juvenile form" EXACT [Orphanet:309185] -synonym: "hexosaminidase A deficiency, juvenile form" EXACT [Orphanet:309185] +synonym: "GM2 gangliosidosis, B variant, juvenile form" EXACT [] +synonym: "hexosaminidase A deficiency, juvenile form" EXACT [] xref: GARD:21325 {source="MONDO:GARD"} xref: ICD10CM:E75.0 {source="Orphanet:309185/attributed", source="Orphanet:309185/ntbt", source="Orphanet:309185"} xref: MEDGEN:1842854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -402154,8 +402235,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:309192"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GM2 gangliosidosis, B variant, adult form" EXACT [Orphanet:309192] -synonym: "hexosaminidase A deficiency, adult form" EXACT [Orphanet:309192] +synonym: "GM2 gangliosidosis, B variant, adult form" EXACT [] +synonym: "hexosaminidase A deficiency, adult form" EXACT [] xref: GARD:21326 {source="MONDO:GARD"} xref: ICD10CM:E75.0 {source="Orphanet:309192", source="Orphanet:309192/attributed", source="Orphanet:309192/ntbt"} xref: MEDGEN:336450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -402193,8 +402274,8 @@ subset: gard_rare {source="GARD:21327", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GM2 gangliosidosis, B1 variant" EXACT [Orphanet:309239] -synonym: "hexosaminidase A deficiency, B1 variant" EXACT [Orphanet:309239] +synonym: "GM2 gangliosidosis, B1 variant" EXACT [] +synonym: "hexosaminidase A deficiency, B1 variant" EXACT [] xref: GARD:21327 {source="MONDO:GARD"} xref: ICD10CM:E75.0 {source="Orphanet:309239/attributed", source="Orphanet:309239/ntbt", source="Orphanet:309239"} xref: MEDGEN:336452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -402555,7 +402636,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:21342", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:309515"} subset: rare -synonym: "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" RELATED [Orphanet:309515] +synonym: "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation" RELATED [] synonym: "disorder of glycosphingolipid and GPI-anchored proteins glycosylation" EXACT [Orphanet:309515] xref: GARD:21342 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:309515/attributed", source="Orphanet:309515/ntbt", source="Orphanet:309515"} @@ -402640,8 +402721,8 @@ subset: disease_grouping subset: gard_rare {source="GARD:21346", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:309813"} subset: rare -synonym: "disorder of porphyrin and haem metabolism" BROAD [Orphanet:309813] -synonym: "inborn disorder of porphyrin and haem metabolism" EXACT [Orphanet:309813] +synonym: "disorder of porphyrin and haem metabolism" BROAD [] +synonym: "inborn disorder of porphyrin and haem metabolism" EXACT [] synonym: "inborn error of porphyrin-containing compound metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn porphyrin-containing compound metabolic process disorder" EXACT [] synonym: "inherited disorder of porphyrin metabolism" EXACT [] @@ -402672,7 +402753,7 @@ subset: ordo_group_of_disorders {source="Orphanet:309816"} subset: rare synonym: "bilirubin metabolism disorder" RELATED [] synonym: "disorder of bilirubin metabolism" BROAD [MONDO:0024289] -synonym: "disorder of bilirubin metabolism and excretion" EXACT [] +synonym: "disorder of bilirubin metabolism and excretion" EXACT [Orphanet:309816] synonym: "hereditary bilirubin metabolism disease" EXACT [MONDO:patterns/hereditary] synonym: "inborn disorder of bilirubin metabolism and excretion" EXACT [] xref: GARD:21347 {source="MONDO:GARD"} @@ -402826,7 +402907,7 @@ subset: gard_rare {source="GARD:21356", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:309845"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "disorder of zinc metabolism and transport" RELATED [Orphanet:309845] +synonym: "disorder of zinc metabolism and transport" RELATED [] xref: GARD:21356 {source="MONDO:GARD"} xref: ICD10CM:E83.2 {source="Orphanet:309845/specific", source="Orphanet:309845/e", source="Orphanet:309845"} xref: ICD9:275.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -402882,7 +402963,7 @@ subset: ordo_disorder {source="Orphanet:3099"} subset: orphanet_rare {source="Orphanet:3099"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acute rheumatic fever" EXACT [DOID:1586, ICD9CM:390-392.99, Orphanet:3099] +synonym: "acute rheumatic fever" EXACT [DOID:1586, ICD10CM:I00-I02, ICD9CM:390-392.99, NCIT:C34984, Orphanet:3099] synonym: "ARF" EXACT ABBREVIATION [NCIT:C34984] synonym: "inflammatory rheumatism" RELATED [GARD:0005699] synonym: "RHF - rheumatic fever" EXACT [DOID:1586] @@ -402975,7 +403056,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:3105"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Saal-Greenstein syndrome" EXACT [Orphanet:3105] +synonym: "Saal-Greenstein syndrome" EXACT [] xref: ICD10CM:Q87.1 {source="Orphanet:3105/attributed", source="Orphanet:3105/ntbt", source="Orphanet:3105"} xref: Orphanet:3105 {source="MONDO:equivalentObsolete"} xref: SCTID:721905000 {source="MONDO:equivalentTo"} @@ -402993,13 +403074,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:3109"} subset: orphanet_rare {source="Orphanet:3109"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Mayer-Rokitansky-Küster-Hauser Syndrome" EXACT [NORD:1412] -synonym: "Mayer-Rokitansky-Küster-Hauser syndrome" RELATED [Orphanet:3109] +synonym: "Mayer-Rokitansky-Küster-Hauser Syndrome" EXACT [NORD:1412, Orphanet:3109] +synonym: "Mayer-Rokitansky-Küster-Hauser syndrome" RELATED [] synonym: "MRKH" EXACT ABBREVIATION [NCIT:C124853] -synonym: "MRKH syndrome" EXACT [Orphanet:3109] +synonym: "MRKH syndrome" EXACT [DOID:0112177, NCIT:C124853, Orphanet:3109] synonym: "Mullerian aplasia/dysgenesis" EXACT [NCIT:C124853] synonym: "Rokitansky Kuster Hauser syndrome" EXACT [https://orcid.org/0000-0001-5493-2602] -synonym: "Rokitansky syndrome" EXACT [Orphanet:3109] +synonym: "Rokitansky syndrome" EXACT [DOID:0112177, Orphanet:3109] xref: DOID:0112177 {source="MONDO:equivalentTo"} xref: GARD:5445 {source="MONDO:GARD"} xref: ICD10CM:Q51.8 {source="Orphanet:3109", source="Orphanet:3109/attributed", source="Orphanet:3109/ntbt"} @@ -403082,7 +403163,7 @@ synonym: "Burkholderia pseudomallei disease or disorder" EXACT [] synonym: "Burkholderia pseudomallei infection" RELATED [GARD:0009546] synonym: "Burkholderia pseudomallei infectious disease" EXACT [] synonym: "Nightcliff gardener's disease" EXACT [DOID:5052] -synonym: "pseudoglanders" EXACT [DOID:5052] +synonym: "pseudoglanders" EXACT [DOID:5052, icd11.foundation:2129350166] synonym: "subacute and chronic melioidosis" EXACT [DOID:5052] synonym: "Whitmore disease" RELATED [GARD:0009546] synonym: "Whitmore's disease" EXACT [DOID:5052] @@ -403169,8 +403250,8 @@ subset: ordo_disorder {source="Orphanet:313"} subset: orphanet_rare {source="Orphanet:313"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "classic lamellar ichthyosis" EXACT [Orphanet:313] -synonym: "congenital lamellar ichthyosis" EXACT [Orphanet:313] +synonym: "classic lamellar ichthyosis" EXACT [] +synonym: "congenital lamellar ichthyosis" EXACT [] synonym: "LI" EXACT ABBREVIATION [Orphanet:313] xref: GARD:10803 {source="MONDO:GARD"} xref: ICD10CM:Q80.2 {source="Orphanet:313", source="Orphanet:313/e", source="Orphanet:313/specific"} @@ -403203,8 +403284,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alpha-N-acetylgalactosaminidase activity disease" EXACT [MONDO:design_pattern] synonym: "disorder of alpha-N-acetylgalactosaminidase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] -synonym: "NAGA deficiency" EXACT [Orphanet:3137] -synonym: "Schindler disease" EXACT [NORD:1693, Orphanet:3137] +synonym: "NAGA deficiency" EXACT [DOID:0112317, Orphanet:3137] +synonym: "Schindler disease" EXACT [DOID:0112317, NORD:1693, Orphanet:3137] xref: DOID:0112317 {source="MONDO:equivalentTo"} xref: GARD:16621 {source="MONDO:GARD"} xref: ICD10CM:E77.1 {source="Orphanet:3137/attributed", source="Orphanet:3137/ntbt", source="Orphanet:3137"} @@ -403441,8 +403522,8 @@ subset: orphanet_rare {source="Orphanet:314022"} subset: rare synonym: "familial fundic gland polyposis with gastric cancer" EXACT [Orphanet:314022] synonym: "fundic gland polyposis" EXACT [OMIM:619182] -synonym: "GAPPS" EXACT ABBREVIATION [OMIM:619182, Orphanet:314022] -synonym: "polyposis, gastric" EXACT [OMIM:175020, OMIM:619182] +synonym: "GAPPS" EXACT ABBREVIATION [NCIT:C172989, OMIM:619182, Orphanet:314022] +synonym: "polyposis, gastric" EXACT [OMIM:619182] synonym: "polyposis, gastric, Dos Santos and de Magalhaes 1980" EXACT [MONDO:0024293] xref: GARD:17416 {source="MONDO:GARD"} xref: MEDGEN:1657285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -403555,8 +403636,8 @@ synonym: "adamantinoma" RELATED DEPRECATED [Wikipedia:Adamantinoma] synonym: "Adenoameloblastoma" RELATED [GARD:0005747] synonym: "adenomatoid odontogenic tumor" RELATED [GARD:0005747] synonym: "adenomatoid odontogenic tumour" RELATED OMO:0003005 [] -synonym: "ameloblastoma" EXACT [NCIT:C4313] -synonym: "ameloblastoma of jaw" EXACT [Orphanet:314419] +synonym: "ameloblastoma" EXACT [DOID:0050894, NCIT:C4313, Orphanet:314419] +synonym: "ameloblastoma of jaw" EXACT [] synonym: "aot" RELATED [GARD:0005747] xref: DOID:0050894 {source="MONDO:equivalentTo"} xref: GARD:5747 {source="MONDO:GARD"} @@ -403587,7 +403668,7 @@ def: "OBSOLETE. Any of the forms of odontogenic neoplasm that have a rare incide subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:314425"} synonym: "rare odontogenic neoplasm" EXACT [MONDO:patterns/rare] -synonym: "rare odontogenic tumor" RELATED [Orphanet:314425] +synonym: "rare odontogenic tumor" RELATED [] xref: Orphanet:314425 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -403620,7 +403701,7 @@ subset: ordo_disorder {source="Orphanet:314451"} subset: orphanet_rare {source="Orphanet:314451"} subset: rare synonym: "Demons-Meigs syndrome" EXACT [Orphanet:314451] -synonym: "Meigs' syndrome" EXACT [NCIT:C3223] +synonym: "Meigs' syndrome" EXACT [icd11.foundation:1050919535, NCIT:C3223] xref: GARD:21372 {source="MONDO:GARD"} xref: ICD10CM:D27 {source="Orphanet:314451/ntbt", source="Orphanet:314451"} xref: icd11.foundation:1050919535 {source="MONDO:equivalentTo", source="Orphanet:314451", source="https://orcid.org/0000-0002-4142-7153"} @@ -403839,7 +403920,7 @@ subset: ordo_disorder {source="Orphanet:314652"} subset: orphanet_rare {source="Orphanet:314652"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant beta2-microglobulinic amyloidosis" EXACT [Orphanet:314652] +synonym: "autosomal dominant beta2-microglobulinic amyloidosis" EXACT [DOID:0080929, Orphanet:314652] xref: DOID:0080929 {source="MONDO:equivalentTo"} xref: GARD:21382 {source="MONDO:GARD"} xref: ICD10CM:E85.1 {source="Orphanet:314652/attributed", source="Orphanet:314652/ntbt", source="Orphanet:314652"} @@ -403904,7 +403985,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebro-facio-articular syndrome" EXACT [DOID:0060238] synonym: "cerebro-facio-articular syndrome of Van Maldergem" RELATED [GARD:0005456] -synonym: "Van Maldergem syndrome" EXACT [Orphanet:314679] +synonym: "Van Maldergem syndrome" EXACT [DOID:0060238, OMIMPS:601390, Orphanet:314679] synonym: "Van Maldergem Wetzburger Verloes syndrome" RELATED [GARD:0005456] xref: DOID:0060238 {source="MONDO:equivalentTo"} xref: GARD:5456 {source="MONDO:GARD"} @@ -403928,7 +404009,7 @@ subset: ordo_disorder {source="Orphanet:314684"} subset: orphanet_rare {source="Orphanet:314684"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone lymphoma" RELATED [DOID:6759] +synonym: "bone lymphoma" RELATED [] synonym: "bone tissue lymphoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "lymphoma of bone" EXACT [DOID:6759] synonym: "lymphoma of bone tissue" EXACT [MONDO:design_pattern] @@ -403958,7 +404039,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype {source="Orphanet:314697"} subset: ordo_subtype_of_a_disorder {source="Orphanet:314697"} subset: rare -synonym: "acquired porencephaly" EXACT [MONDO:patterns/acquired] +synonym: "acquired porencephaly" EXACT [MONDO:patterns/acquired, Orphanet:314697] xref: GARD:21386 {source="MONDO:GARD"} xref: ICD10CM:G93.0 {source="Orphanet:314697", source="Orphanet:314697/ntbt", source="Orphanet:314697/inclusion"} xref: MEDGEN:508833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -403979,8 +404060,8 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:314701"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "systemic AL amyloidosis" EXACT [Orphanet:314701] -synonym: "systemic amyloidosis" EXACT [NCIT:C8299] -synonym: "systemic Immunoglobulin Light chain amyloidosis" EXACT [NCIT:C8299] +synonym: "systemic amyloidosis" EXACT [] +synonym: "systemic Immunoglobulin Light chain amyloidosis" EXACT [] xref: GARD:17431 {source="MONDO:GARD"} xref: ICD10CM:E85.0 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"} xref: ICD10CM:E85.1 {source="Orphanet:314701/btnt", source="Orphanet:314701", source="Orphanet:314701/specific"} @@ -404047,7 +404128,7 @@ name: obsolete obsolete disease with Cushing syndrome as a major feature def: "OBSOLETE. A disease in which Cushing syndrome is a major feature." [https://orcid.org/0000-0002-6601-2165] comment: This is a disease with a phenotype as a feature and is used as a grouping class but does not seem clinically relevant. The parent is wrong, this class is not a type of 'Cushing syndrome'. subset: ordo_group_of_disorders {source="Orphanet:314749"} -synonym: "rare disease with Cushing syndrome as a major feature" EXACT [Orphanet:314749] +synonym: "rare disease with Cushing syndrome as a major feature" EXACT [] xref: Orphanet:314749 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1522" xsd:anyURI @@ -404157,25 +404238,25 @@ subset: ordo_disorder {source="Orphanet:3148"} subset: orphanet_rare {source="Orphanet:3148"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Malig. periph. nerve sheath tum." EXACT [NCIT:C3798] -synonym: "malignant neoplasm of peripheral nerve sheath" EXACT [NCIT:C3798] -synonym: "malignant neoplasm of the peripheral nerve sheath" EXACT [DOID:5940, NCIT:C3798] +synonym: "Malig. periph. nerve sheath tum." EXACT [] +synonym: "malignant neoplasm of peripheral nerve sheath" EXACT [] +synonym: "malignant neoplasm of the peripheral nerve sheath" EXACT [DOID:5940] synonym: "malignant neurilemmoma" EXACT [NCIT:C3798, Orphanet:3148] -synonym: "malignant neurilemoma" EXACT [NCIT:C3798] +synonym: "malignant neurilemoma" EXACT [] synonym: "malignant neurofibroma" EXACT [Orphanet:3148] synonym: "malignant peripheral nerve sheath neoplasm" EXACT [NCIT:C3798] -synonym: "malignant peripheral nerve sheath tumor" EXACT [NCIT:C3798] -synonym: "malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [DOID:5940] -synonym: "malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)" EXACT [DOID:5940] +synonym: "malignant peripheral nerve sheath tumor" EXACT [DOID:5940, NCIT:C3798, Orphanet:3148] +synonym: "malignant peripheral nerve sheath tumor (morphologic abnormality)" EXACT [] +synonym: "malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)" EXACT [] synonym: "malignant peripheral nerve sheath tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "malignant peripheral nerve sheath tumour [dup] (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "malignant schwannoma" EXACT [NCIT:C3798, Orphanet:3148] -synonym: "malignant tumor of peripheral nerve sheath" EXACT [NCIT:C3798] -synonym: "malignant tumor of the peripheral nerve sheath" EXACT [NCIT:C3798] +synonym: "malignant tumor of peripheral nerve sheath" EXACT [] +synonym: "malignant tumor of the peripheral nerve sheath" EXACT [] synonym: "malignant tumour of peripheral nerve sheath" EXACT OMO:0003005 [] synonym: "malignant tumour of the peripheral nerve sheath" EXACT OMO:0003005 [] synonym: "MPNST" EXACT ABBREVIATION [NCIT:C3798, Orphanet:3148] -synonym: "neurofibrosarcoma" BROAD [NCIT:C3798, Orphanet:3148] +synonym: "neurofibrosarcoma" BROAD [] synonym: "neurofibrosarcoma, malignant" EXACT [NCIT:C3798] synonym: "neurogenic sarcoma" EXACT [NCIT:C3798, Orphanet:3148] synonym: "schwannoma, malignant" EXACT [NCIT:C3798] @@ -404302,8 +404383,8 @@ subset: ordo_disorder {source="Orphanet:314950"} subset: orphanet_rare {source="Orphanet:314950"} subset: rare synonym: "clonal hypereosinophilic syndrome" EXACT [Orphanet:314950] -synonym: "HES-M" EXACT [Orphanet:314950] -synonym: "HES-N" EXACT [Orphanet:314950] +synonym: "HES-M" EXACT ABBREVIATION [Orphanet:314950] +synonym: "HES-N" EXACT ABBREVIATION [Orphanet:314950] synonym: "neoplastic hypereosinophilic syndrome" EXACT [Orphanet:314950] synonym: "primary HES" EXACT [Orphanet:314950] xref: GARD:21395 {source="MONDO:GARD"} @@ -404320,7 +404401,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:314962"} subset: orphanet_rare {source="Orphanet:314962"} subset: rare -synonym: "HES-R" EXACT [Orphanet:314962] +synonym: "HES-R" EXACT ABBREVIATION [Orphanet:314962] synonym: "reactive hypereosinophilic syndrome" EXACT [Orphanet:314962] synonym: "secondary HES" EXACT [Orphanet:314962] xref: GARD:21396 {source="MONDO:GARD"} @@ -404336,7 +404417,7 @@ subset: gard_rare {source="GARD:21397", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:314970"} subset: rare -synonym: "HES-L" EXACT [Orphanet:314970] +synonym: "HES-L" EXACT ABBREVIATION [Orphanet:314970] synonym: "lymphocytic variant HES" EXACT [Orphanet:314970] synonym: "lymphoid HES" EXACT [Orphanet:314970] xref: GARD:21397 {source="MONDO:GARD"} @@ -404356,11 +404437,11 @@ subset: ordo_disorder {source="Orphanet:315"} subset: orphanet_rare {source="Orphanet:315"} subset: rare synonym: "Degos 'en cocarde' erythrokeratoderma" RELATED [GARD:0001722] -synonym: "Degos genodermatosis" EXACT [Orphanet:315] -synonym: "Degos genodermatosis \"en cocardes\"" EXACT [Orphanet:315] +synonym: "Degos genodermatosis" EXACT [] +synonym: "Degos genodermatosis \"en cocardes\"" EXACT [] synonym: "Degos genodermatosis 'en cocardes'" RELATED [GARD:0001722] -synonym: "erythrokeratoderma \"en cocardes\"" RELATED [Orphanet:315] -synonym: "erythrokeratoderma ''en cocardes''" RELATED [Orphanet:315] +synonym: "erythrokeratoderma \"en cocardes\"" RELATED [] +synonym: "erythrokeratoderma ''en cocardes''" RELATED [] synonym: "erythrokeratoderma 'en cocardes'" RELATED [GARD:0001722] xref: GARD:1722 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:315", source="Orphanet:315/attributed", source="Orphanet:315/ntbt"} @@ -404488,7 +404569,7 @@ synonym: "renal dysplasia retinal aplasia" RELATED [GARD:0000322] synonym: "renal dysplasia-retinal aplasia syndrome" EXACT [Orphanet:3156] synonym: "renal-retinal syndrome" EXACT [DOID:0050576] synonym: "Senior Loken syndrome" RELATED [GARD:0000322] -synonym: "SLSN" EXACT ABBREVIATION [Orphanet:3156] +synonym: "SLSN" EXACT ABBREVIATION [NCIT:C168588, Orphanet:3156] xref: DOID:0050576 {source="MONDO:equivalentTo"} xref: GARD:322 {source="MONDO:GARD"} xref: ICD10CM:Q61.5 {source="Orphanet:3156", source="DOID:0050576", source="Orphanet:3156/attributed", source="Orphanet:3156/ntbt"} @@ -404520,7 +404601,7 @@ subset: orphanet_rare {source="Orphanet:3161"} subset: rare synonym: "bronchopulmonary sequestration" EXACT [NCIT:C97124] synonym: "congenital bronchopulmonary sequestration" EXACT [Orphanet:3161] -synonym: "congenital sequestration of lung" EXACT [NCIT:C97124] +synonym: "congenital sequestration of lung" EXACT [icd11.foundation:1833083626, NCIT:C97124] synonym: "pulmonary sequestration" EXACT [GARD:0004593, NCIT:C97124] synonym: "sequestered lobe (pulmonary sequestration)" EXACT [NCIT:C97124] xref: GARD:4593 {source="MONDO:GARD"} @@ -404545,18 +404626,18 @@ subset: ordo_disorder {source="Orphanet:3162"} subset: orphanet_rare {source="Orphanet:3162"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CTCL / Sezary syndrome" EXACT [NCIT:C3366] -synonym: "cutaneous T-cell lymphoma/Sezary syndrome" EXACT [NCIT:C3366] -synonym: "SC)zary syndrome" EXACT [NCIT:C3366] -synonym: "Sezary disease" EXACT [DOID:8541] -synonym: "Sezary lymphoma" EXACT [Orphanet:3162] -synonym: "Sezary syndrome" EXACT [DOID:8541, MTH:U002240, NCIT:C3366] -synonym: "Sezary's disease" EXACT [MONDO:0006628, NCIT:C3366] +synonym: "CTCL / Sezary syndrome" EXACT [] +synonym: "cutaneous T-cell lymphoma/Sezary syndrome" EXACT [] +synonym: "SC)zary syndrome" EXACT [] +synonym: "Sezary disease" EXACT [DOID:8541, NCIT:C3366] +synonym: "Sezary lymphoma" EXACT [] +synonym: "Sezary syndrome" EXACT [DOID:8541, icd11.foundation:1358020385, MTH:U002240, NCIT:C3366] +synonym: "Sezary's disease" EXACT [DOID:8541, MONDO:0006628, NCIT:C3366] synonym: "Sezary's lymphoma" RELATED [GARD:0007629] synonym: "Sheehan Syndrome" EXACT [NORD:1707] synonym: "SS" RELATED ABBREVIATION [ONCOTREE:SS] synonym: "Sézary lymphoma" EXACT [Orphanet:3162] -synonym: "Sézary syndrome" EXACT [Orphanet:3162] +synonym: "Sézary syndrome" EXACT [NCIT:C3366, Orphanet:3162] xref: DOID:8541 {source="MONDO:equivalentTo", source="EFO:1000785"} xref: EFO:1000785 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7629 {source="MONDO:GARD"} @@ -404609,7 +404690,7 @@ subset: gard_rare {source="GARD:21402", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:316235"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AD-SPAX" EXACT [Orphanet:316235] +synonym: "AD-SPAX" EXACT ABBREVIATION [Orphanet:316235] synonym: "spastic ataxia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:21402 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="MONDO:relatedTo", source="Orphanet:316235/attributed", source="Orphanet:316235/ntbt", source="Orphanet:316235"} @@ -404630,7 +404711,7 @@ subset: gard_rare {source="GARD:21403", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:316240"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AR-SPAX" EXACT [Orphanet:316240] +synonym: "AR-SPAX" EXACT ABBREVIATION [Orphanet:316240] synonym: "spastic ataxia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: GARD:21403 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:316240", source="Orphanet:316240/attributed", source="Orphanet:316240/ntbt"} @@ -404714,22 +404795,22 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Darier-Gottron disease" EXACT [Orphanet:316] synonym: "EKV" EXACT ABBREVIATION [Orphanet:317] -synonym: "EKVP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133200] +synonym: "EKVP" RELATED ABBREVIATION [MONDO:Lexical] synonym: "erythrokeratodermia figurata variabilis" EXACT [DOID:0050467] -synonym: "erythrokeratodermia figurata, congenital familial, in plaques" RELATED [GARD:0003096, MESH:C536154, OMIM:133200] +synonym: "erythrokeratodermia figurata, congenital familial, in plaques" RELATED [GARD:0003096, MESH:C536154] synonym: "erythrokeratodermia progressiva symmetrica" EXACT [Orphanet:316] -synonym: "erythrokeratodermia variabilis" EXACT CLINGEN_LABEL [OMIM:133200] -synonym: "erythrokeratodermia variabilis ET progressiva" RELATED [MONDO:Lexical, OMIM:133200] -synonym: "erythrokeratodermia variabilis with erythema Gyratum Repens" RELATED [OMIM:133200] +synonym: "erythrokeratodermia variabilis" EXACT CLINGEN_LABEL [DOID:0050467, icd11.foundation:551200965, NCIT:C84696, Orphanet:317] +synonym: "erythrokeratodermia variabilis ET progressiva" RELATED [MONDO:Lexical] +synonym: "erythrokeratodermia variabilis with erythema Gyratum Repens" RELATED [] synonym: "erythrokeratodermia variabilis with erythema gyratum repens" RELATED [GARD:0003096, MESH:C536154] synonym: "erythrokeratodermia variabilis, Mendes da Costa type" EXACT [Orphanet:317] -synonym: "erythrokeratodermia, progressive symmetric" RELATED [OMIM:133200] -synonym: "Greither disease" RELATED EXCLUDE [DOID:0050467] +synonym: "erythrokeratodermia, progressive symmetric" RELATED [] +synonym: "Greither disease" RELATED EXCLUDE [] synonym: "Greither's disease" RELATED EXCLUDE [GARD:0003096] synonym: "Ichthyosis, Erythrokeratodermia Variabilis" EXACT [NORD:1285] synonym: "keratoderma palmoplantaris transgrediens" RELATED [GARD:0003096] synonym: "keratosis extremitatum hereditaria progrediens" RELATED [GARD:0003096] -synonym: "keratosis palmoplantaris transgrediens et progrediens" RELATED [GARD:0003096, MESH:C536154, OMIM:133200] +synonym: "keratosis palmoplantaris transgrediens et progrediens" RELATED [GARD:0003096, MESH:C536154] synonym: "progressive symmetric erythrokeratodermia" EXACT [Orphanet:316] synonym: "progressive symmetric erythrokeratodermia, Gottron type" EXACT [Orphanet:316] xref: DOID:0050467 {source="MONDO:equivalentTo"} @@ -404797,10 +404878,10 @@ synonym: "allergic pneumonitis" EXACT [GARD:0000012, NCIT:C34369] synonym: "alveolitis" EXACT [DOID:841] synonym: "alveolitis, extrinsic allergic" RELATED [GARD:0000012] synonym: "exogen allergic alveolitis" EXACT [https://orcid.org/0000-0003-0113-912Xf] -synonym: "extrinsic allergic alveolitis" EXACT [NCIT:C34369, Orphanet:31740] +synonym: "extrinsic allergic alveolitis" EXACT [DOID:841, NCIT:C34369, Orphanet:31740] synonym: "extrinsic allergic pneumonia hypersensitivity pneumonitis" RELATED [GARD:0000012] -synonym: "HP" EXACT ABBREVIATION [Orphanet:31740] -synonym: "hypersensitivity pneumonitis" EXACT [DOID:841, GARD:0000012, NCIT:C34369] +synonym: "HP" EXACT ABBREVIATION [] +synonym: "hypersensitivity pneumonitis" EXACT [DOID:841, GARD:0000012, NCIT:C34369, Orphanet:31740] xref: DOID:841 {source="MONDO:equivalentTo"} xref: GARD:12 {source="MONDO:GARD"} xref: ICD10CM:J67.0 {source="Orphanet:31740", source="Orphanet:31740/btnt"} @@ -404908,7 +404989,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute erythroblastic leukaemia" EXACT OMO:0003005 [] synonym: "acute erythroblastic leukemia" EXACT [NCIT:C8923] -synonym: "acute erythroid leukemia" EXACT [NCIT:C8923] +synonym: "acute erythroid leukemia" EXACT [DOID:0080780, NCIT:C8923, Orphanet:318] synonym: "acute erythroleukemia" RELATED [GARD:0009620] synonym: "acute erythroleukemia M6a subtype" RELATED [GARD:0009620] synonym: "acute erythroleukemia M6b subtype" RELATED [GARD:0009620] @@ -404923,7 +405004,7 @@ synonym: "Di Guglielmo syndrome" RELATED [GARD:0009620] synonym: "Di Guglielmo's syndrome" RELATED [GARD:0009750] synonym: "erythroblastic leukaemia" EXACT OMO:0003005 [] synonym: "erythroblastic leukemia" EXACT [NCIT:C8923] -synonym: "Erythroleukemia" RELATED [Orphanet:318] +synonym: "Erythroleukemia" RELATED [] synonym: "FAB M6" EXACT [NCIT:C8923] synonym: "leukemia, erythroid, malignant" EXACT [NCIT:C8923] synonym: "M6 acute myeloid leukaemia" EXACT OMO:0003005 [] @@ -405139,7 +405220,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:319192"} subset: orphanet_rare {source="Orphanet:319192"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diencephalic-mesencephalic junction dysplasia syndrome" EXACT [MONDO:0033211] +synonym: "diencephalic-mesencephalic junction dysplasia syndrome" EXACT [MONDO:0033211, OMIMPS:251280] xref: GARD:21407 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:319192", source="Orphanet:319192/attributed", source="Orphanet:319192/ntbt"} xref: MEDGEN:1641855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -405443,8 +405524,8 @@ synonym: "Kyasanur forest disease virus caused disease or disorder" EXACT [MONDO synonym: "Kyasanur forest disease virus disease or disorder" EXACT [] synonym: "Kyasanur forest disease virus infectious disease" EXACT [] synonym: "Kyasanur hemorrhagic fever" EXACT [Orphanet:319254] -synonym: "monkey disease" RELATED [Orphanet:319254] -synonym: "monkey fever" RELATED [Orphanet:319254] +synonym: "monkey disease" RELATED [] +synonym: "monkey fever" RELATED [] xref: DOID:11320 {source="MONDO:equivalentTo"} xref: GARD:8257 {source="MONDO:GARD"} xref: ICD10CM:A98.2 {source="MONDO:equivalentTo", source="Orphanet:319254", source="DOID:11320", source="Orphanet:319254/e"} @@ -405511,22 +405592,22 @@ synonym: "chromophil carcinoma of kidney" EXACT [DOID:4465, NCIT:C6975] synonym: "chromophil carcinoma of the kidney" EXACT [NCIT:C6975] synonym: "chromophil RCC" RELATED [GARD:0009575] synonym: "chromophil renal cell carcinoma" EXACT [NCIT:C6975] -synonym: "HPRCC" EXACT ABBREVIATION [Orphanet:47044] +synonym: "HPRCC" EXACT ABBREVIATION [] synonym: "papillary (chromophil) renal cell carcinoma" EXACT [NCIT:C6975] synonym: "papillary kidney carcinoma" EXACT [DOID:4465] synonym: "papillary renal carcinoma, malignant - (subtype)" RELATED [GARD:0009572] synonym: "papillary renal cell adenocarcinoma" EXACT [Orphanet:319298] synonym: "papillary renal cell cancer" EXACT [NCIT:C6975] -synonym: "papillary renal cell carcinoma" EXACT CLINGEN_LABEL [DOID:4465, NCIT:C6975] +synonym: "papillary renal cell carcinoma" EXACT CLINGEN_LABEL [DOID:4465, NCIT:C6975, Orphanet:319298] synonym: "papillary renal cell carcinoma, bilateral - (subtype)" RELATED [GARD:0009572] synonym: "papillary renal cell carcinoma, familial - (subtype)" RELATED [GARD:0009572] synonym: "papillary renal cell carcinoma, multiple - (subtype)" RELATED [GARD:0009572] synonym: "papillary renal cell carcinoma, sporadic - (subtype)" RELATED [GARD:0009572] synonym: "RCCP" RELATED ABBREVIATION [GARD:0009572] -synonym: "RCCP1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:605074] +synonym: "RCCP1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "renal adenocarcinoma" RELATED [GARD:0009572] -synonym: "renal cell carcinoma, papillary, 1" RELATED [MONDO:Lexical, OMIM:605074] -synonym: "renal cell carcinoma, papillary, type 1" EXACT [MONDORULE:1, OMIM:605074] +synonym: "renal cell carcinoma, papillary, 1" RELATED [MONDO:Lexical] +synonym: "renal cell carcinoma, papillary, type 1" EXACT [MONDORULE:1] synonym: "sporadic papillary renal cell carcinoma" EXACT [DOID:4465] xref: DOID:4465 {source="EFO:0000640", source="MONDO:equivalentTo"} xref: EFO:0000640 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -405571,7 +405652,7 @@ synonym: "chromophobe cell carcinoma of kidney" EXACT [NCIT:C4146] synonym: "chromophobe cell carcinoma of the kidney" EXACT [NCIT:C4146] synonym: "chromophobe renal cell adenocarcinoma" EXACT [Orphanet:319303] synonym: "chromophobe renal cell cancer" EXACT [NCIT:C4146] -synonym: "chromophobe renal cell carcinoma" EXACT [NCIT:C4146] +synonym: "chromophobe renal cell carcinoma" EXACT [DOID:4471, NCIT:C4146, Orphanet:319303] synonym: "CRCC" RELATED ABBREVIATION [GARD:0006064] synonym: "kidney chromophobe" EXACT [DOID:4471] synonym: "renal cell carcinoma, chromophobe cell" EXACT [DOID:4471] @@ -405624,7 +405705,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_histopathological_subtype {source="Orphanet:319314"} subset: rare synonym: "renal cell cancer associated with neuroblastoma" EXACT [NCIT:C100051] -synonym: "renal cell carcinoma after neuroblastoma" EXACT [Orphanet:319314] +synonym: "renal cell carcinoma after neuroblastoma" EXACT [] synonym: "renal cell carcinoma associated with neuroblastoma" EXACT [NCIT:C100051] xref: ICD10CM:C64 {source="Orphanet:319314/ntbt", source="Orphanet:319314"} xref: MEDGEN:473928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -405735,7 +405816,7 @@ subset: orphanet_rare {source="Orphanet:319480"} subset: rare synonym: "acute myeloid Leukaemia with mutated CEBPA" EXACT OMO:0003005 [] synonym: "acute myeloid Leukaemia with non-germline mutated CEBPA" EXACT OMO:0003005 [] -synonym: "acute myeloid Leukemia with mutated CEBPA" EXACT [NCIT:C82433] +synonym: "acute myeloid Leukemia with mutated CEBPA" EXACT [DOID:0081095, NCIT:C82433] synonym: "acute myeloid Leukemia with non-germline mutated CEBPA" EXACT [NCIT:C82433] synonym: "AML with CEBPA somatic mutations" EXACT [Orphanet:319480] synonym: "AML with mutated CEBPA" EXACT [NCIT:C82433] @@ -405785,7 +405866,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:319494"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "thyroid cancer, nonmedullary" EXACT [MONDO:0000201] +synonym: "thyroid cancer, nonmedullary" EXACT [MONDO:0000201, OMIMPS:188550] xref: GARD:21421 {source="MONDO:GARD"} xref: ICD10CM:C73 {source="Orphanet:319494", source="Orphanet:319494/attributed", source="Orphanet:319494/ntbt"} xref: MEDGEN:502247 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -405803,7 +405884,7 @@ name: obsolete autosomal recessive mendelian susceptibility to mycobacterial dis def: "OBSOLETE. Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency." [Orphanet:319535] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility' subset: ordo_group_of_disorders {source="Orphanet:319535"} -synonym: "autosomal recessive MSMD due to a complete deficiency" EXACT [Orphanet:319535] +synonym: "autosomal recessive MSMD due to a complete deficiency" EXACT [] synonym: "mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: ICD10CM:D84.8 {source="Orphanet:319535/attributed", source="Orphanet:319535/ntbt", source="Orphanet:319535"} xref: Orphanet:319535 {source="MONDO:obsoleteEquivalent"} @@ -405818,7 +405899,7 @@ name: obsolete autosomal recessive mendelian susceptibility to mycobacterial dis def: "OBSOLETE. Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency." [MONDO:patterns/autosomal_recessive] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility' subset: ordo_group_of_disorders {source="Orphanet:319539"} -synonym: "autosomal recessive MSMD due to a partial deficiency" EXACT [Orphanet:319539] +synonym: "autosomal recessive MSMD due to a partial deficiency" EXACT [] synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: ICD10CM:D84.8 {source="Orphanet:319539/attributed", source="Orphanet:319539/ntbt", source="Orphanet:319539"} xref: Orphanet:319539 {source="MONDO:obsoleteEquivalent"} @@ -405833,7 +405914,7 @@ name: obsolete autosomal dominant mendelian susceptibility to mycobacterial dise def: "OBSOLETE. Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8)." [Orphanet:319543] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inherited disease susceptibility' subset: ordo_group_of_disorders {source="Orphanet:319543"} -synonym: "autosomal dominant MSMD due to a partial deficiency" EXACT [Orphanet:319543] +synonym: "autosomal dominant MSMD due to a partial deficiency" EXACT [] synonym: "mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: ICD10CM:D84.8 {source="Orphanet:319543", source="Orphanet:319543/attributed", source="Orphanet:319543/ntbt"} xref: Orphanet:319543 {source="MONDO:obsoleteEquivalent"} @@ -405985,7 +406066,7 @@ subset: ordo_disorder {source="Orphanet:319635"} subset: orphanet_rare {source="Orphanet:319635"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amyloidosis cutis dyschromica" EXACT [Orphanet:319635] +synonym: "amyloidosis cutis dyschromica" EXACT [DOID:0080932, Orphanet:319635] xref: DOID:0080932 {source="MONDO:equivalentTo"} xref: GARD:17466 {source="MONDO:GARD"} xref: ICD10EXP:E85.4+ {source="Orphanet:319635/ntbt", source="Orphanet:319635"} @@ -406037,7 +406118,7 @@ subset: orphanet_rare {source="Orphanet:32"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "5-oxoprolinuria" EXACT [NCIT:C128193] -synonym: "glutathione synthetase deficiency" EXACT [NCIT:C128193] +synonym: "glutathione synthetase deficiency" EXACT [DOID:0080699, NCIT:C128193, Orphanet:32] synonym: "GSSD" EXACT ABBREVIATION [NCIT:C128193] synonym: "inborn error of glutathione synthase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glutathione synthase activity disorder" EXACT [] @@ -406073,7 +406154,7 @@ subset: orphanet_rare {source="Orphanet:3202"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Desiccytosis hereditary" RELATED [GARD:0005623] -synonym: "hereditary xerocytosis" EXACT [GARD:0005623, Orphanet:3202] +synonym: "hereditary xerocytosis" EXACT [DOID:0111575, GARD:0005623, Orphanet:3202] synonym: "xerocytosis hereditary" RELATED [GARD:0005623] xref: DOID:0111575 {source="MONDO:equivalentTo"} xref: GARD:5623 {source="MONDO:GARD"} @@ -406125,7 +406206,7 @@ is_a: MONDO:0019064 {source="Orphanet:320335"} ! hereditary spastic paraplegia id: MONDO:0017914 name: obsolete pure or complex autosomal dominant spastic paraplegia subset: ordo_group_of_disorders {source="Orphanet:320342"} -synonym: "Pure or complicated autosomal dominant spastic paraplegia" EXACT [Orphanet:320342] +synonym: "Pure or complicated autosomal dominant spastic paraplegia" EXACT [] xref: ICD10CM:G11.4 {source="Orphanet:320342/attributed", source="Orphanet:320342/ntbt", source="Orphanet:320342"} xref: Orphanet:320342 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -406139,7 +406220,7 @@ id: MONDO:0017915 name: obsolete pure or complex autosomal recessive spastic paraplegia subset: ordo_group_of_disorders {source="Orphanet:320346"} subset: otar {source="MONDO:OTAR"} -synonym: "Pure or complicated autosomal recessive spastic paraplegia" EXACT [Orphanet:320346] +synonym: "Pure or complicated autosomal recessive spastic paraplegia" EXACT [] xref: ICD10CM:G11.4 {source="Orphanet:320346", source="Orphanet:320346/attributed", source="Orphanet:320346/ntbt"} xref: Orphanet:320346 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -406152,7 +406233,7 @@ is_obsolete: true id: MONDO:0017916 name: obsolete pure or complex X-linked spastic paraplegia subset: ordo_group_of_disorders {source="Orphanet:320350"} -synonym: "Pure or complicated X-linked spastic paraplegia" EXACT [Orphanet:320350] +synonym: "Pure or complicated X-linked spastic paraplegia" EXACT [] xref: ICD10CM:G11.4 {source="Orphanet:320350/attributed", source="Orphanet:320350/ntbt", source="Orphanet:320350"} xref: Orphanet:320350 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -406215,10 +406296,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:322"} subset: orphanet_rare {source="Orphanet:322"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BEEC" NARROW ABBREVIATION [Orphanet:322] -synonym: "bladder exstrophy-epispadias-cloacal extrophy complex" NARROW [Orphanet:322] +synonym: "BEEC" NARROW ABBREVIATION [] +synonym: "bladder exstrophy-epispadias-cloacal extrophy complex" NARROW [] synonym: "EEC" EXACT ABBREVIATION [Orphanet:322] -synonym: "OEIS complex" EXACT [https://github.com/monarch-initiative/mondo/issues/3650] +synonym: "OEIS complex" EXACT [https://github.com/monarch-initiative/mondo/issues/3650, NCIT:C99142, OMIM:258040] synonym: "OEIS syndrome" EXACT [NCIT:C99142] xref: DOID:0080173 {source="MONDO:equivalentTo"} xref: GARD:2207 {source="MONDO:GARD"} @@ -406346,7 +406427,7 @@ subset: ordo_disorder {source="Orphanet:3240"} subset: orphanet_rare {source="Orphanet:3240"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Yoshimura-Takeshita syndrome" EXACT [Orphanet:3240] +synonym: "Yoshimura-Takeshita syndrome" EXACT [] xref: GARD:18789 {source="MONDO:GARD"} xref: MEDGEN:1384620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:3240 {source="MONDO:equivalentTo"} @@ -406517,7 +406598,7 @@ subset: ordo_disorder {source="Orphanet:324525"} subset: orphanet_rare {source="Orphanet:324525"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation" EXACT [Orphanet:324525] +synonym: "hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation" EXACT [] xref: GARD:21442 {source="MONDO:GARD"} xref: ICD10CM:I42.2 {source="Orphanet:324525/attributed", source="Orphanet:324525/ntbt", source="Orphanet:324525"} xref: MEDGEN:1650300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -406614,8 +406695,8 @@ subset: gard_rare {source="GARD:13661", source="MONDO:GARD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:324604"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "classic MmD" BROAD [Orphanet:324604] -synonym: "classic multiminicore disease" BROAD [Orphanet:324604] +synonym: "classic MmD" BROAD [] +synonym: "classic multiminicore disease" BROAD [] synonym: "classic multiminicore myopathy" EXACT [Orphanet:324604] synonym: "minicore myopathy" RELATED [HP:0003789] xref: GARD:13661 {source="MONDO:GARD"} @@ -406661,7 +406742,7 @@ subset: orphanet_rare {source="Orphanet:324625"} subset: rare synonym: "arbovirus A Chikungunya type" RELATED [GARD:0006038] synonym: "CHIK" RELATED ABBREVIATION [GARD:0006038] -synonym: "Chikungunya fever" EXACT [DOID:0050012] +synonym: "Chikungunya fever" EXACT [DOID:0050012, icd11.foundation:900389391] synonym: "Chikungunya virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Chikungunya virus disease or disorder" EXACT [] synonym: "Chikungunya virus infection" RELATED [GARD:0006038] @@ -406789,7 +406870,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:324708"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABetaD23N amyloidosis" EXACT [Orphanet:324708] -synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" EXACT [DOID:0070028, OMIM:605714] +synonym: "cerebral amyloid angiopathy, APP-related, Iowa variant" EXACT [] synonym: "HCHWA, Iowa type" EXACT [Orphanet:324708] synonym: "hereditary cerebral haemorrhage with amyloidosis, Iowa type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Iowa type" EXACT [Orphanet:324708] @@ -406811,7 +406892,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:324713"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABetaE22K amyloidosis" EXACT [Orphanet:324713] -synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" EXACT [DOID:0070028, OMIM:605714] +synonym: "cerebral amyloid angiopathy, APP-related, Italian variant" EXACT [] synonym: "HCHWA, Italian type" EXACT [Orphanet:324713] synonym: "hereditary cerebral haemorrhage with amyloidosis, Italian type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Italian type" EXACT [Orphanet:324713] @@ -406834,7 +406915,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABeta amyloidosis, Flemish type" EXACT [Orphanet:324718] synonym: "ABetaA21G-related amyloidosis" EXACT [Orphanet:324718] -synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" EXACT [DOID:0070028] +synonym: "cerebral amyloid angiopathy, APP-related, Flemish variant" EXACT [] synonym: "HCHWA, Flemish type" EXACT [Orphanet:324718] synonym: "hereditary cerebral haemorrhage with amyloidosis, Flemish type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Flemish type" EXACT [Orphanet:324718] @@ -406856,7 +406937,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:324723"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABetaE22G amyloidosis" EXACT [Orphanet:324723] -synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" EXACT [DOID:0070028] +synonym: "cerebral amyloid angiopathy, APP-related, Arctic variant" EXACT [] synonym: "HCHWA, Arctic type" EXACT [Orphanet:324723] synonym: "hereditary cerebral haemorrhage with amyloidosis, Arctic type" EXACT OMO:0003005 [] synonym: "hereditary cerebral hemorrhage with amyloidosis, Arctic type" EXACT [Orphanet:324723] @@ -406927,7 +407008,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:324924"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary periodic fever syndrome" EXACT [MONDO:patterns/hereditary] +synonym: "hereditary periodic fever syndrome" EXACT [MONDO:patterns/hereditary, Orphanet:324924] xref: GARD:21453 {source="MONDO:GARD"} xref: ICD10CM:E85.0 {source="Orphanet:324924", source="Orphanet:324924/attributed", source="Orphanet:324924/ntbt"} xref: MEDGEN:199651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -406990,7 +407071,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:324972"} subset: orphanet_rare {source="Orphanet:324972"} subset: rare -synonym: "mouth and genital ulcers with inflamed cartilage" EXACT [Orphanet:324972] +synonym: "mouth and genital ulcers with inflamed cartilage" EXACT [] xref: GARD:13371 {source="MONDO:GARD"} xref: MEDGEN:590513 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:324972 {source="MONDO:equivalentTo"} @@ -407026,7 +407107,7 @@ is_obsolete: true id: MONDO:0017962 name: obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess subset: ordo_group_of_disorders {source="Orphanet:325061"} -synonym: "46,XX DSD induced by fetoplacental androgens excess" EXACT [Orphanet:325061] +synonym: "46,XX DSD induced by fetoplacental androgens excess" EXACT [] xref: Orphanet:325061 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407039,7 +407120,7 @@ is_obsolete: true id: MONDO:0017963 name: obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen subset: ordo_group_of_disorders {source="Orphanet:325093"} -synonym: "46,XX DSD induced by endogenous maternal-derived androgen" EXACT [Orphanet:325093] +synonym: "46,XX DSD induced by endogenous maternal-derived androgen" EXACT [] xref: ICD10CM:Q56.2 {source="Orphanet:325093", source="Orphanet:325093/ntbt"} xref: Orphanet:325093 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -407053,7 +407134,7 @@ is_obsolete: true id: MONDO:0017964 name: obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen subset: ordo_group_of_disorders {source="Orphanet:325099"} -synonym: "46,XX DSD induced by exogenous maternal-derived androgen" EXACT [Orphanet:325099] +synonym: "46,XX DSD induced by exogenous maternal-derived androgen" EXACT [] xref: ICD10CM:Q56.2 {source="Orphanet:325099/ntbt", source="Orphanet:325099"} xref: Orphanet:325099 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -407068,7 +407149,7 @@ id: MONDO:0017965 name: obsolete syndrome with 46,XX disorder of sex development comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:325109"} -synonym: "syndrome with 46,XX DSD" EXACT [Orphanet:325109] +synonym: "syndrome with 46,XX DSD" EXACT [] xref: Orphanet:325109 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -407145,7 +407226,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017969 name: obsolete 46,XY disorder of sex development of endocrine origin subset: ordo_group_of_disorders {source="Orphanet:325351"} -synonym: "46,XY DSD of endocrine origin" EXACT [Orphanet:325351] +synonym: "46,XY DSD of endocrine origin" EXACT [] xref: Orphanet:325351 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407159,7 +407240,7 @@ id: MONDO:0017970 name: obsolete 46,XY disorder of sex development due to impaired androgen production comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:325357"} -synonym: "46,XY DSD due to impaired androgen production" EXACT [Orphanet:325357] +synonym: "46,XY DSD due to impaired androgen production" EXACT [] xref: Orphanet:325357 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -407171,7 +407252,7 @@ id: MONDO:0017971 name: obsolete 46,XY disorder of sex development due to a cholesterol synthesis defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:325511"} -synonym: "46,XY DSD due to a cholesterol synthesis defect" EXACT [Orphanet:325511] +synonym: "46,XY DSD due to a cholesterol synthesis defect" EXACT [] xref: Orphanet:325511 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -407217,7 +407298,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0017974 name: obsolete 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors subset: ordo_group_of_disorders {source="Orphanet:325537"} -synonym: "46,XY DSD induced by maternal-exposure to endocrine disruptors" EXACT [Orphanet:325537] +synonym: "46,XY DSD induced by maternal-exposure to endocrine disruptors" EXACT [] xref: Orphanet:325537 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -407247,7 +407328,7 @@ id: MONDO:0017976 name: obsolete disorder of sex development of gynecological interest comment: These terms are not used clinically. subset: ordo_group_of_disorders {source="Orphanet:325620"} -synonym: "DSD of gynecological interest" EXACT [Orphanet:325620] +synonym: "DSD of gynecological interest" EXACT [] xref: Orphanet:325620 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0001967 @@ -407258,7 +407339,7 @@ id: MONDO:0017977 name: obsolete 46,XY disorder of sex development of gynecological interest comment: These terms are not used clinically. subset: ordo_group_of_disorders {source="Orphanet:325632"} -synonym: "46,XY DSD of gynecological interest" EXACT [Orphanet:325632] +synonym: "46,XY DSD of gynecological interest" EXACT [] xref: Orphanet:325632 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0001967 @@ -407269,7 +407350,7 @@ id: MONDO:0017978 name: obsolete syndrome with disorder of sex development of gynecological interest comment: These terms are not used clinically. subset: ordo_group_of_disorders {source="Orphanet:325638"} -synonym: "syndrome with DSD of gynecological interest" EXACT [Orphanet:325638] +synonym: "syndrome with DSD of gynecological interest" EXACT [] xref: Orphanet:325638 {source="MONDO:obsoleteEquivalent"} is_obsolete: true consider: MONDO:0001967 @@ -407285,11 +407366,11 @@ subset: ordo_disorder {source="Orphanet:3261"} subset: orphanet_rare {source="Orphanet:3261"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALPS" EXACT ABBREVIATION [Orphanet:3261] -synonym: "ALPS (autoimmune lymphoproliferative syndrome)" EXACT [DOID:6688] +synonym: "ALPS" EXACT ABBREVIATION [DOID:6688, NCIT:C37864, Orphanet:3261] +synonym: "ALPS (autoimmune lymphoproliferative syndrome)" EXACT [] synonym: "autoimmune lymphoproliferative syndrome type 1, autosomal dominant" RELATED [GARD:0008686] -synonym: "Canale-Smith syndrome" EXACT [DOID:6688, Orphanet:3261] -synonym: "FAS deficiency" EXACT [Orphanet:3261] +synonym: "Canale-Smith syndrome" EXACT [DOID:6688, icd11.foundation:1072688797, NCIT:C37864, Orphanet:3261] +synonym: "FAS deficiency" EXACT [icd11.foundation:1072688797] xref: CSP:1560-5548 {source="DOID:6688"} xref: DOID:6688 {source="MONDO:equivalentTo"} xref: GARD:8686 {source="MONDO:GARD"} @@ -407320,7 +407401,7 @@ subset: ordo_disorder {source="Orphanet:3262"} subset: ordo_malformation_syndrome {source="Orphanet:3262"} subset: orphanet_rare {source="Orphanet:3262"} subset: rare -synonym: "dobrow syndrome" EXACT [MONDO:0023000] +synonym: "dobrow syndrome" EXACT [MONDO:0023000, Orphanet:3262] synonym: "syngnathia-multiple anomalies syndrome" EXACT [Orphanet:3262] xref: GARD:5092 {source="MONDO:GARD"} xref: MEDGEN:1678646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -407369,7 +407450,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:3266"} subset: orphanet_rare {source="Orphanet:3266"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "humero-radio-ulnar fusion" EXACT [Orphanet:3266] +synonym: "humero-radio-ulnar fusion" EXACT [] xref: GARD:2749 {source="MONDO:GARD"} xref: ICD10CM:Q74.0 {source="Orphanet:3266", source="Orphanet:3266/attributed", source="Orphanet:3266/ntbt"} xref: icd11.foundation:1798339866 {source="Orphanet:3266", source="MONDO:equivalentTo"} @@ -407410,8 +407491,8 @@ synonym: "proximal, smooth fusion of 2-6 CM between the radius and ulna and abse synonym: "radial-ulnar synostosis" RELATED [GARD:0010876] synonym: "radio-ulnar synostosis" RELATED [GARD:0010876] synonym: "radio-ulnar synostosis type 1" RELATED [GARD:0004630] -synonym: "radioulnar fusion" EXACT [Orphanet:3269] -synonym: "radioulnar synostosis" EXACT [MONDO:ambiguous] +synonym: "radioulnar fusion" EXACT [] +synonym: "radioulnar synostosis" EXACT [DOID:9827, MONDO:ambiguous] synonym: "radioulnar synostosis (disease)" EXACT [MONDO:0008360] xref: DOID:9827 {source="MONDO:equivalentTo"} xref: GARD:10876 {source="MONDO:GARD"} @@ -407439,7 +407520,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18790", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:3276"} subset: rare -synonym: "disorder of plasmalogens biosynthesis" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] +synonym: "disorder of plasmalogens biosynthesis" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, Orphanet:3276] xref: GARD:18790 {source="MONDO:GARD"} xref: MEDGEN:1842510 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:1200770 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -407460,7 +407541,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1755"} subset: ordo_group_of_disorders {source="Orphanet:3280"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hydromyelia" RELATED [Orphanet:3280] +synonym: "hydromyelia" RELATED [] xref: DOID:327 {source="MONDO:equivalentTo"} xref: GARD:7725 {source="MONDO:GARD"} xref: ICD10CM:G95.0 {source="Orphanet:3280", source="Orphanet:3280/e"} @@ -407490,9 +407571,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:3282"} subset: orphanet_rare {source="Orphanet:3282"} subset: rare -synonym: "chaotic atrial tachycardia" EXACT [Orphanet:3282] +synonym: "chaotic atrial tachycardia" EXACT [icd11.foundation:262929566, Orphanet:3282] synonym: "MAT" EXACT ABBREVIATION [Orphanet:3282] -synonym: "multifocal atrial tachycardia" EXACT [MONDO:ambiguous] +synonym: "multifocal atrial tachycardia" EXACT [icd11.foundation:262929566, MONDO:ambiguous, Orphanet:3282] synonym: "multifocal atrial tachycardia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:1235 {source="MONDO:GARD"} xref: HP:0011701 {source="MONDO:otherHierarchy"} @@ -407519,7 +407600,7 @@ subset: orphanet_rare {source="Orphanet:3283"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "JET" EXACT ABBREVIATION [Orphanet:3283] -synonym: "junctional ectopic tachycardia" EXACT [Orphanet:3283] +synonym: "junctional ectopic tachycardia" EXACT [icd11.foundation:962827983, NCIT:C111646, Orphanet:3283] xref: GARD:2706 {source="MONDO:GARD"} xref: ICD10CM:I47.1 {source="Orphanet:3283/e", source="Orphanet:3283/inclusion", source="Orphanet:3283"} xref: icd11.foundation:962827983 {source="MONDO:equivalentTo", source="Orphanet:3283", source="https://orcid.org/0000-0002-4142-7153"} @@ -407544,14 +407625,14 @@ subset: ordo_disorder {source="Orphanet:3286"} subset: orphanet_rare {source="Orphanet:3286"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bidirectional tachycardia induced by catecholamine" EXACT [Orphanet:3286] +synonym: "bidirectional tachycardia induced by catecholamine" EXACT [] synonym: "catecholamine-induced polymorphic ventricular tachycardia" RELATED [GARD:0004421] -synonym: "catecholaminergic polymorphic ventricular tachycardia" EXACT CLINGEN_LABEL [] +synonym: "catecholaminergic polymorphic ventricular tachycardia" EXACT CLINGEN_LABEL [DOID:0060674, icd11.foundation:976309888, Orphanet:3286] synonym: "CPVT" EXACT ABBREVIATION [GARD:0004421, Orphanet:3286] -synonym: "double tachycardia induced by catecholamines" EXACT [Orphanet:3286] +synonym: "double tachycardia induced by catecholamines" EXACT [] synonym: "familial polymorphic ventricular tachycardia" RELATED [GARD:0004421] synonym: "malignant paroxysmal ventricular tachycardia" EXACT [Orphanet:3286] -synonym: "multifocal ventricular premature beats" EXACT [GARD:0004421, Orphanet:3286] +synonym: "multifocal ventricular premature beats" EXACT [GARD:0004421] synonym: "polymorphic catecholergic ventricular tachycardia" RELATED [GARD:0004421] synonym: "stress-induced polymorphic ventricular tachycardia" RELATED [GARD:0004421] synonym: "syncopal paroxysmal tachycardia" RELATED [GARD:0004421] @@ -407583,19 +407664,19 @@ subset: ordo_disorder {source="Orphanet:3287", source="Orphanet:99079"} subset: orphanet_rare {source="Orphanet:3287", source="Orphanet:99079"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aortic arch arteritis" EXACT [DOID:2508] -synonym: "aortic arch syndrome" EXACT [DOID:2508, NCIT:C34391, Orphanet:99079] +synonym: "aortic arch arteritis" EXACT [DOID:2508, icd11.foundation:1327645131] +synonym: "aortic arch syndrome" EXACT [DOID:2508, icd11.foundation:1327645131, NCIT:C34391, OMIM:207600] synonym: "Arteritis, Takayasu" EXACT [NORD:806] synonym: "cervical aortic arch" EXACT [Orphanet:99079] -synonym: "idiopathic aortitis" EXACT [DOID:2508] +synonym: "idiopathic aortitis" EXACT [DOID:2508, icd11.foundation:1327645131] synonym: "pharyngeal arch artery syndromic disease" EXACT [MONDO:patterns/location] -synonym: "pulseless disease" RELATED [OMIM:207600] +synonym: "pulseless disease" RELATED [] synonym: "TA" RELATED ABBREVIATION [GARD:0007730] -synonym: "Takayasu arteritis" EXACT [DOID:2508, OMIM:207600] +synonym: "Takayasu arteritis" EXACT [DOID:2508, icd11.foundation:1327645131, NCIT:C35062, OMIM:207600, Orphanet:3287] synonym: "Takayasu disease" RELATED [GARD:0007730] -synonym: "Takayasu's arteritis" EXACT [MONDO:0008805] +synonym: "Takayasu's arteritis" EXACT [DOID:2508, MONDO:0008805, NCIT:C35062] synonym: "Takayasu's disease" EXACT [DOID:2508, ICD9CM:446.7] -synonym: "Young female arteritis" RELATED [OMIM:207600] +synonym: "Young female arteritis" RELATED [] xref: DOID:2508 {source="MONDO:equivalentTo"} xref: EFO:1001857 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7730 {source="MONDO:GARD"} @@ -407777,7 +407858,7 @@ subset: orphanet_rare {source="Orphanet:329319"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial thrombocytosis with transverse limb defect" EXACT [Orphanet:329319] -synonym: "thrombocythemia with distal limb defects" RELATED [Orphanet:329319] +synonym: "thrombocythemia with distal limb defects" RELATED [] xref: GARD:21487 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:329319", source="Orphanet:329319/attributed", source="Orphanet:329319/ntbt"} xref: MEDGEN:1653707 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -407796,7 +407877,7 @@ subset: ordo_disorder {source="Orphanet:329324"} subset: orphanet_rare {source="Orphanet:329324"} subset: rare synonym: "cutaneous hemangioma with muscle or bone atrophy" EXACT [Orphanet:329324] -synonym: "inverse Klippel-Trénaunay syndrome" RELATED [Orphanet:329324] +synonym: "inverse Klippel-Trénaunay syndrome" RELATED [] xref: GARD:21488 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:329324/ntbt", source="Orphanet:329324/inclusion", source="Orphanet:329324"} xref: MEDGEN:1830088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -407829,8 +407910,8 @@ id: MONDO:0018003 name: limbic encephalitis with DPP6 antibodies subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "limbic encephalitis with dipeptidyl-peptidase 6 antibodies" EXACT [Orphanet:329341] -synonym: "limbic encephalitis with DPPX antibodies" EXACT [Orphanet:329341] +synonym: "limbic encephalitis with dipeptidyl-peptidase 6 antibodies" EXACT [] +synonym: "limbic encephalitis with DPPX antibodies" EXACT [] xref: ICD10CM:G13.1 {source="Orphanet:329341", source="Orphanet:329341/ntbt"} xref: MEDGEN:1664407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:329341 {source="MONDO:equivalentObsolete"} @@ -408074,7 +408155,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:329984"} subset: rare synonym: "appendix adenocarcinoid tumor" EXACT [NCIT:C3689] synonym: "appendix adenocarcinoid tumour" EXACT OMO:0003005 [] -synonym: "appendix goblet cell carcinoid" EXACT [MONDO:0006089] +synonym: "appendix goblet cell carcinoid" EXACT [MONDO:0006089, NCIT:C3689] synonym: "appendix goblet cell carcinoid tumor" EXACT [NCIT:C3689] synonym: "appendix goblet cell carcinoid tumour" EXACT OMO:0003005 [] synonym: "appendix mixed carcinoid-adenocarcinoma" EXACT [NCIT:C3689] @@ -408085,13 +408166,13 @@ synonym: "Goblet Cell Adenocarcinoma" EXACT [NORD:1931] synonym: "goblet cell carcinoid" EXACT [Orphanet:329984] synonym: "goblet cell carcinoid of appendix" EXACT [] synonym: "goblet cell carcinoid of the appendix" EXACT [] -synonym: "goblet cell carcinoid tumor" EXACT [NCIT:C3689] +synonym: "goblet cell carcinoid tumor" EXACT [] synonym: "goblet cell carcinoid tumour" EXACT OMO:0003005 [] -synonym: "goblet cell carcinoma" EXACT [MONDO:patterns/location] +synonym: "goblet cell carcinoma" EXACT [MONDO:patterns/location, Orphanet:329984] synonym: "goblet cell tumor" EXACT [Orphanet:329984] synonym: "goblet cell tumour" EXACT OMO:0003005 [] synonym: "mucinous carcinoid" RELATED [GARD:0010414] -synonym: "mucinous carcinoid tumor" EXACT [NCIT:C3689] +synonym: "mucinous carcinoid tumor" EXACT [] synonym: "mucinous carcinoid tumour" EXACT OMO:0003005 [] xref: GARD:10414 {source="MONDO:GARD"} xref: ICD10CM:C18.1 {source="Orphanet:329984/ntbt", source="Orphanet:329984"} @@ -408118,10 +408199,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:330001"} subset: orphanet_rare {source="Orphanet:330001"} subset: rare -synonym: "ATTRwt amyloidosis" EXACT [Orphanet:330001] +synonym: "ATTRwt amyloidosis" EXACT [DOID:0080937, Orphanet:330001] synonym: "ATTRwt-related amyloidosis" EXACT [Orphanet:330001] -synonym: "Senile systemic amyloidosis" EXACT [Orphanet:330001] -synonym: "SSA" EXACT ABBREVIATION [Orphanet:330001] +synonym: "Senile systemic amyloidosis" EXACT [DOID:0080937, Orphanet:330001] +synonym: "SSA" EXACT ABBREVIATION [] synonym: "wild type ATTR-related amyloidosis" EXACT [Orphanet:330001] xref: DOID:0080937 {source="MONDO:equivalentTo"} xref: GARD:21501 {source="MONDO:GARD"} @@ -408232,7 +408313,7 @@ synonym: "blue baby syndrome" RELATED [GARD:0013007] synonym: "hereditary methemoglobinemia due to haemoglobin mutation" RELATED OMO:0003005 [] synonym: "hereditary methemoglobinemia due to hemoglobin mutation" RELATED [GARD:0013007] synonym: "M hemoglobinopathy" EXACT [Orphanet:330041] -synonym: "methemoglobinemia, beta type" EXACT [OMIM:617971, OMIM:genemap2] +synonym: "methemoglobinemia, beta type" EXACT [OMIM:617971] synonym: "methemoglobinemia, beta-globin type" RELATED [GARD:0013007] xref: GARD:13007 {source="MONDO:GARD"} xref: ICD10CM:D74.0 {source="Orphanet:330041/attributed", source="Orphanet:330041/ntbt", source="Orphanet:330041"} @@ -408302,7 +408383,7 @@ subset: ordo_disorder {source="Orphanet:3305"} subset: ordo_malformation_syndrome {source="Orphanet:3305"} subset: orphanet_rare {source="Orphanet:3305"} subset: rare -synonym: "tetraploidy" EXACT [] +synonym: "tetraploidy" EXACT [icd11.foundation:1705084192, Orphanet:3305] xref: GARD:5151 {source="MONDO:GARD"} xref: ICD10CM:Q92.7 {source="Orphanet:3305", source="Orphanet:3305/attributed", source="Orphanet:3305/ntbt"} xref: icd11.foundation:1705084192 {source="MONDO:equivalentTo", source="Orphanet:3305", source="https://orcid.org/0000-0001-5208-3432"} @@ -408326,13 +408407,13 @@ subset: orphanet_rare {source="Orphanet:3306"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chromosome 15q tetrasomy" RELATED [GARD:0005153] -synonym: "duplication/inversion 15q11" EXACT [GARD:0005153] -synonym: "Duplication/inversion type 15q11" EXACT [MONDORULE:7, Orphanet:3306] -synonym: "idic(15)" EXACT [Orphanet:3306] -synonym: "Inv dup(15)" EXACT [Orphanet:3306] -synonym: "Invdup(15)" EXACT [Orphanet:3306] +synonym: "duplication/inversion 15q11" EXACT [GARD:0005153, Orphanet:3306] +synonym: "Duplication/inversion type 15q11" EXACT [MONDORULE:7] +synonym: "idic(15)" EXACT [] +synonym: "Inv dup(15)" EXACT [] +synonym: "Invdup(15)" EXACT [] synonym: "inverted duplication 15" RELATED [GARD:0005153] -synonym: "Isodicentric 15 chromosome" EXACT [Orphanet:3306] +synonym: "Isodicentric 15 chromosome" EXACT [] synonym: "Isodicentric chromosome 15 syndrome" RELATED [GARD:0005153] synonym: "non-distal tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306] synonym: "non-telomeric tetrasomy 15q" EXACT [GARD:0005153, Orphanet:3306] @@ -408361,7 +408442,7 @@ subset: orphanet_rare {source="Orphanet:3309"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Isochromosome 5p" EXACT [Orphanet:3309] -synonym: "tetrasomy type 5p" EXACT [MONDORULE:4, Orphanet:3309] +synonym: "tetrasomy type 5p" EXACT [MONDORULE:4] xref: GARD:18792 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:3309", source="Orphanet:3309/attributed", source="Orphanet:3309/ntbt"} xref: MEDGEN:1638801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -408384,11 +408465,11 @@ subset: orphanet_rare {source="Orphanet:331"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "deficiency, Laki-Lorand factor" EXACT [DOID:2211] -synonym: "factor XIII deficiency" RELATED [DOID:2211] +synonym: "factor XIII deficiency" RELATED [] synonym: "factor XIII deficiency disease" EXACT [DOID:2211] synonym: "fibrin stabilising factor deficiency" RELATED OMO:0003005 [] synonym: "fibrin stabilizing factor deficiency" RELATED [GARD:0010766] -synonym: "fibrin-stabilizing factor deficiency" BROAD [Orphanet:331] +synonym: "fibrin-stabilizing factor deficiency" BROAD [] synonym: "hereditary factor XIII deficiency disease" EXACT [DOID:2211] xref: DOID:2211 {source="MONDO:equivalentTo"} xref: GARD:10766 {source="MONDO:GARD"} @@ -408426,7 +408507,7 @@ synonym: "chromosome 9p tetrasomy" RELATED [GARD:0000042] synonym: "Isochromosome 9p" EXACT [Orphanet:3310] synonym: "Mosaic tetrasomy 9p" RELATED [GARD:0000042] synonym: "tetrasomy of short arm of chromosome 9" RELATED [GARD:0000042] -synonym: "tetrasomy type 9p" EXACT [MONDORULE:4, Orphanet:3310] +synonym: "tetrasomy type 9p" EXACT [MONDORULE:4] xref: GARD:42 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:3310", source="Orphanet:3310/attributed", source="Orphanet:3310/ntbt"} xref: icd11.foundation:1426428869 {source="MONDO:equivalentTo"} @@ -408450,7 +408531,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:33111"} subset: orphanet_rare {source="Orphanet:33111"} subset: rare -synonym: "granulomatous slack skin" EXACT [] +synonym: "granulomatous slack skin" EXACT [Orphanet:33111] xref: GARD:10986 {source="MONDO:GARD"} xref: ICD10CM:C84.0 {source="Orphanet:33111/ntbt", source="Orphanet:33111", source="MONDO:directSiblingOf"} xref: MEDGEN:99139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -408488,7 +408569,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:3312"} subset: orphanet_rare {source="Orphanet:3312"} subset: rare -synonym: "fetal thalidomide syndrome" EXACT [Orphanet:3312] +synonym: "fetal thalidomide syndrome" EXACT [NCIT:C99082, Orphanet:3312] synonym: "foetal thalidomide syndrome" EXACT OMO:0003005 [] synonym: "thalidomide embryopathy syndrome" EXACT [NCIT:C99082] synonym: "thalidomide-induced birth defect" EXACT [NCIT:C99082] @@ -408541,7 +408622,7 @@ subset: ordo_group_of_disorders {source="Orphanet:331223"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HIES" EXACT ABBREVIATION [GARD:0010956] -synonym: "hyper-IgE recurrent infection syndrome" EXACT [GARD:0010956] +synonym: "hyper-IgE recurrent infection syndrome" EXACT [GARD:0010956, OMIMPS:147060] synonym: "hyperimmunoglobulin E syndrome" EXACT [GARD:0010956, NCIT:C3144] xref: DOID:0080545 {source="MONDO:equivalentTo"} xref: GARD:10956 {source="MONDO:GARD"} @@ -408575,7 +408656,7 @@ subset: ordo_disorder {source="Orphanet:331235"} subset: orphanet_rare {source="Orphanet:331235"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "selective IgM deficiency disease" EXACT [MONDO:0000289] +synonym: "selective IgM deficiency disease" EXACT [DOID:0050222, MONDO:0000289] synonym: "selective immunoglobulin M deficiency" EXACT [Orphanet:331235] synonym: "SIgMD" RELATED [GARD:0012547] xref: DOID:0050222 {source="MONDO:equivalentTo"} @@ -408616,7 +408697,7 @@ id: MONDO:0018042 name: obsolete immunodeficiency syndrome with abnormal pigmentation comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: immunodeficiency disease' subset: ordo_group_of_disorders {source="Orphanet:331249"} -synonym: "immunodeficiency syndrome with hypopigmentation" RELATED [Orphanet:331249] +synonym: "immunodeficiency syndrome with hypopigmentation" RELATED [] xref: icd11.foundation:2015243510 {source="MONDO:obsoleteEquivalent", source="Orphanet:331249", source="https://orcid.org/0000-0002-4142-7153"} xref: Orphanet:331249 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -408656,7 +408737,7 @@ subset: orphanet_rare {source="Orphanet:33208"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "idiopathic hypersomnolence" RELATED [GARD:0008737] -synonym: "primary hypersomnia" EXACT [Orphanet:33208] +synonym: "primary hypersomnia" EXACT [NCIT:C116343] xref: GARD:8737 {source="MONDO:GARD"} xref: ICD10CM:F51.1 {source="Orphanet:33208", source="Orphanet:33208/e"} xref: icd11.foundation:631826564 {source="MONDO:equivalentTo", source="Orphanet:33208"} @@ -408741,7 +408822,7 @@ subset: orphanet_rare {source="Orphanet:3325"} subset: rare synonym: "HAT" EXACT ABBREVIATION [Orphanet:3325] synonym: "heparin-associated thrombocytopenia" EXACT [Orphanet:3325] -synonym: "heparin-induced thrombocytopenia" EXACT [MONDO:ambiguous] +synonym: "heparin-induced thrombocytopenia" EXACT [icd11.foundation:1143142333, MONDO:ambiguous, Orphanet:3325] synonym: "heparin-induced thrombocytopenia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "heparin-induced thrombocytopenia type 2" EXACT [Orphanet:3325] synonym: "HIT" EXACT ABBREVIATION [Orphanet:3325] @@ -408785,7 +408866,7 @@ synonym: "SHFM associated with aplasia of long bones" EXACT [Orphanet:3329] synonym: "split hand/foot malformation with long bone deficiency" EXACT [Orphanet:3329] synonym: "split-hand/foot malformation associated with aplasia of long bones" EXACT [Orphanet:3329] synonym: "split-hand/foot malformation with long bone deficiency" RELATED [GARD:0001369] -synonym: "TH-SHFM" EXACT [Orphanet:3329] +synonym: "TH-SHFM" EXACT ABBREVIATION [Orphanet:3329] synonym: "tibial aplasia with split-hand/split-foot deformity" RELATED [GARD:0001369] synonym: "tibial hemimelia with split hand/foot malformation" EXACT [Orphanet:3329] synonym: "tibial hemimelia-ectrodactyly syndrome" EXACT [Orphanet:3329] @@ -408878,7 +408959,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ATFB" EXACT ABBREVIATION [DOID:0050650] synonym: "atrial fibrillation autosomal dominant" RELATED [GARD:0009740] -synonym: "atrial fibrillation, familial" RELATED [GARD:0009740, OMIMPS:608583] +synonym: "atrial fibrillation, familial" RELATED [GARD:0009740] synonym: "autosomal dominant atrial fibrillation" RELATED [GARD:0009740] synonym: "hereditary atrial fibrillation (disease)" EXACT [MONDO:patterns/hereditary] xref: DOID:0050650 {source="MONDO:equivalentTo"} @@ -408906,12 +408987,12 @@ subset: orphanet_rare {source="Orphanet:33402"} subset: rare synonym: "childhood carcinoma of liver cell" RELATED [GARD:0009331] synonym: "childhood carcinoma of the liver cell" EXACT [NCIT:C7955] -synonym: "childhood hepatocellular carcinoma" EXACT [DOID:0070322, GARD:0009331] +synonym: "childhood hepatocellular carcinoma" EXACT [DOID:0070322, GARD:0009331, NCIT:C7955] synonym: "childhood hepatoma" RELATED [GARD:0009331] synonym: "childhood liver cell carcinoma" RELATED [GARD:0009331] synonym: "childhood-onset HCC" EXACT [Orphanet:33402] synonym: "childhood-onset hepatocellular carcinoma" EXACT [Orphanet:33402] -synonym: "hepatocellular cancer" BROAD [NCIT:C7955] +synonym: "hepatocellular cancer" BROAD [] synonym: "paediatric carcinoma of liver cell" RELATED OMO:0003005 [] synonym: "Paediatric carcinoma of the liver cell" EXACT OMO:0003005 [] synonym: "paediatric HCC" EXACT OMO:0003005 [] @@ -409028,7 +409109,7 @@ subset: ordo_disorder {source="Orphanet:335"} subset: orphanet_rare {source="Orphanet:335"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital fibrinogen deficiency" EXACT CLINGEN_LABEL [] +synonym: "congenital fibrinogen deficiency" EXACT CLINGEN_LABEL [Orphanet:335] synonym: "fibrinogen deficiency, congenital" RELATED [GARD:0002320] xref: GARD:2320 {source="MONDO:GARD"} xref: ICD10CM:D68.2 {source="Orphanet:335", source="Orphanet:335/attributed", source="Orphanet:335/ntbt"} @@ -409072,7 +409153,7 @@ subset: rare synonym: "ectodermal dysplasia with corkscrew hairs" RELATED [GARD:0005376] synonym: "Tricho-odonto-onychodysplasia with syndactyly" RELATED [GARD:0005376] synonym: "Trueb Burg Bottani syndrome" RELATED [GARD:0005376] -synonym: "Trueb-Burg-Bottani syndrome" EXACT [Orphanet:3357] +synonym: "Trueb-Burg-Bottani syndrome" EXACT [] xref: GARD:5376 {source="MONDO:GARD"} xref: MEDGEN:419366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536565 {source="MONDO:equivalentTo"} @@ -409094,10 +409175,10 @@ subset: rare synonym: "idiopathic lobular panniculitis" EXACT [Orphanet:33577] synonym: "idiopathic nodular panniculitis" EXACT [Orphanet:33577] synonym: "nodular non-suppurative febrile panniculitis" EXACT [DOID:1525] -synonym: "nodular nonsuppurative panniculitis" EXACT [MONDO:0006587] +synonym: "nodular nonsuppurative panniculitis" EXACT [DOID:1525, MONDO:0006587] synonym: "panniculitis nodular nonsuppurative" RELATED [GARD:0007879] synonym: "Pfeiffer-Weber-Christian syndrome" EXACT [Orphanet:33577] -synonym: "Relapsing febrile nodular nonsuppurative panniculitis" EXACT [Orphanet:33577] +synonym: "Relapsing febrile nodular nonsuppurative panniculitis" EXACT [DOID:1525, Orphanet:33577] synonym: "Relapsing febrile nodular panniculitis" EXACT [Orphanet:33577] synonym: "WCD" EXACT ABBREVIATION [Orphanet:33577] synonym: "Weber - Christian disease" EXACT [DOID:1525] @@ -409178,16 +409259,16 @@ subset: orphanet_rare {source="Orphanet:3375"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "47 XXX syndrome" RELATED [GARD:0005672] -synonym: "47,XXX" EXACT [NCIT:C129718] -synonym: "47,XXX syndrome" EXACT [Orphanet:3375] -synonym: "triple X syndrome" EXACT [GARD:0005672, Orphanet:3375] +synonym: "47,XXX" EXACT ABBREVIATION [NCIT:C129718] +synonym: "47,XXX syndrome" EXACT [NCIT:C129718, Orphanet:3375] +synonym: "triple X syndrome" EXACT [GARD:0005672, icd11.foundation:423644907, NCIT:C129718, Orphanet:3375] synonym: "triple-X chromosome syndrome" RELATED [GARD:0005672] synonym: "triple-X female" RELATED [GARD:0005672] synonym: "Triplo X syndrome" RELATED [GARD:0005672] synonym: "Triplo-X syndrome" EXACT [Orphanet:3375] -synonym: "trisomy type X" EXACT [MONDORULE:1, Orphanet:3375] -synonym: "trisomy X" EXACT [GARD:0005672] -synonym: "XXX syndrome" EXACT [GARD:0005672, Orphanet:3375] +synonym: "trisomy type X" EXACT [MONDORULE:1] +synonym: "trisomy X" EXACT [GARD:0005672, NCIT:C129718, Orphanet:3375] +synonym: "XXX syndrome" EXACT [GARD:0005672, icd11.foundation:423644907, Orphanet:3375] xref: GARD:5672 {source="MONDO:GARD"} xref: ICD10CM:Q97.0 {source="Orphanet:3375", source="Orphanet:3375/e", source="Orphanet:3375/specific"} xref: icd11.foundation:423644907 {source="Orphanet:3375", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -409247,12 +409328,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chromosome 13, trisomy 13 complete" RELATED [GARD:0007341] synonym: "D trisomy syndrome (formerly)" RELATED [GARD:0007341] -synonym: "D1 trisomy" RELATED [DOID:11665, NCIT:C36529] -synonym: "Patau syndrome" EXACT [MONDO:0001333, NCIT:C101223, Orphanet:3378] -synonym: "Patau's syndrome" EXACT [DOID:11665, ICD9CM:758.1] -synonym: "trisomy 13" EXACT [DOID:11665] -synonym: "Trisomy 13 Syndrome" EXACT [NORD:1796] -synonym: "trisomy type 13" EXACT [MONDORULE:2, Orphanet:3378] +synonym: "D1 trisomy" RELATED [] +synonym: "Patau syndrome" EXACT [DOID:11665, icd11.foundation:1435958084, MONDO:0001333, NCIT:C101223, Orphanet:3378] +synonym: "Patau's syndrome" EXACT [ICD9CM:758.1] +synonym: "trisomy 13" EXACT [DOID:11665, icd11.foundation:1435958084, Orphanet:3378] +synonym: "Trisomy 13 Syndrome" EXACT [icd11.foundation:1435958084, NORD:1796] +synonym: "trisomy type 13" EXACT [MONDORULE:2] xref: DOID:11665 {source="MONDO:equivalentTo"} xref: GARD:7341 {source="MONDO:GARD"} xref: ICD10CM:Q91.4 {source="Orphanet:3378", source="Orphanet:3378/btnt", source="Orphanet:3378/specific"} @@ -409299,7 +409380,7 @@ subset: orphanet_rare {source="Orphanet:3379"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal duplication 17q" EXACT [Orphanet:3379] -synonym: "distal trisomy type 17q" EXACT [MONDORULE:4, Orphanet:3379] +synonym: "distal trisomy type 17q" EXACT [MONDORULE:4] synonym: "telomeric duplication 17q" EXACT [Orphanet:3379] synonym: "trisomy 17qter" EXACT [Orphanet:3379] xref: GARD:18794 {source="MONDO:GARD"} @@ -409351,13 +409432,13 @@ subset: rare synonym: "18 trisomy" RELATED [GARD:0006321] synonym: "chromosome 18 duplication" EXACT [Orphanet:3380] synonym: "chromosome 18 trisomy" RELATED [GARD:0006321] -synonym: "complete trisomy 18 syndrome" EXACT [DOID:1085] -synonym: "E3 trisomy" EXACT [DOID:1085] -synonym: "Edwards syndrome" EXACT [MONDO:0001140, Orphanet:3380] +synonym: "complete trisomy 18 syndrome" EXACT [DOID:1085, icd11.foundation:1505179968] +synonym: "E3 trisomy" EXACT [DOID:1085, icd11.foundation:1505179968] +synonym: "Edwards syndrome" EXACT [DOID:1085, icd11.foundation:1505179968, MONDO:0001140, Orphanet:3380] synonym: "trisomy 16-18 (formerly)" RELATED [GARD:0006321] -synonym: "trisomy 18" EXACT [DOID:1085] +synonym: "trisomy 18" EXACT [DOID:1085, icd11.foundation:1505179968, Orphanet:3380] synonym: "trisomy E (formerly)" RELATED [GARD:0006321] -synonym: "trisomy type 18" EXACT [MONDORULE:2, Orphanet:3380] +synonym: "trisomy type 18" EXACT [MONDORULE:2] xref: DOID:1085 {source="MONDO:equivalentTo"} xref: GARD:6321 {source="MONDO:GARD"} xref: ICD10CM:Q91.0 {source="Orphanet:3380/specific", source="Orphanet:3380/btnt", source="Orphanet:3380"} @@ -409401,13 +409482,13 @@ subset: orphanet_rare {source="Orphanet:3384"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "common aorticopulmonary trunk" EXACT [Orphanet:3384] -synonym: "common arterial trunk" EXACT [Orphanet:3384] -synonym: "common truncus arteriosus" EXACT [NCIT:C98880] -synonym: "persistent truncus arteriosus" EXACT [NCIT:C98880] +synonym: "common arterial trunk" EXACT [icd11.foundation:1832500366, Orphanet:3384] +synonym: "common truncus arteriosus" EXACT [icd11.foundation:1832500366, NCIT:C98880] +synonym: "persistent truncus arteriosus" EXACT [icd11.foundation:1832500366, NCIT:C98880] synonym: "persistent truncus arteriosus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "TAC" EXACT ABBREVIATION [Orphanet:3384] -synonym: "Truncus Arteriosus" EXACT [NORD:1800] -synonym: "truncus arteriosus" EXACT [NCIT:C98880] +synonym: "TAC" EXACT ABBREVIATION [] +synonym: "Truncus Arteriosus" EXACT [icd11.foundation:1832500366, NCIT:C98880, NORD:1800, Orphanet:3384] +synonym: "truncus arteriosus" EXACT [icd11.foundation:1832500366, NCIT:C98880, Orphanet:3384] xref: GARD:16627 {source="MONDO:GARD"} xref: ICD10CM:Q20.0 {source="Orphanet:3384/specific", source="Orphanet:3384/e", source="Orphanet:3384"} xref: icd11.foundation:1832500366 {source="MONDO:equivalentTo", source="Orphanet:3384", source="https://orcid.org/0000-0002-4142-7153"} @@ -409466,7 +409547,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1801"} subset: ordo_group_of_disorders {source="Orphanet:3389"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "active tuberculosis" NARROW [NCIT:C3423] +synonym: "active tuberculosis" NARROW [] synonym: "Kochs disease" RELATED [GARD:0007827] synonym: "TB" RELATED ABBREVIATION [GARD:0007827] synonym: "tuberculosis disease" EXACT [NCIT:C3423] @@ -409560,17 +409641,17 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1953"} subset: ordo_group_of_disorders {source="Orphanet:3394"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "connective tissue sarcoma" EXACT [NCIT:C9306] +synonym: "connective tissue sarcoma" EXACT [] synonym: "malignant mesenchymal tumor" EXACT [Orphanet:3394] synonym: "malignant mesenchymal tumour" EXACT OMO:0003005 [] -synonym: "malignant soft tissue tumor" BROAD [Orphanet:3394] +synonym: "malignant soft tissue tumor" BROAD [] synonym: "malignant soft tissue tumour" BROAD OMO:0003005 [] -synonym: "non-Rhabdo. soft tissue sarcoma" EXACT [NCIT:C9306] -synonym: "non-rhabdomyosarcoma soft tissue sarcoma, NOS" RELATED EXCLUDE [NCIT:C9306] +synonym: "non-Rhabdo. soft tissue sarcoma" EXACT [] +synonym: "non-rhabdomyosarcoma soft tissue sarcoma, NOS" RELATED EXCLUDE [] synonym: "sarcoma of soft tissue" EXACT [NCIT:C9306] synonym: "sarcoma of the soft tissue" EXACT [NCIT:C9306] synonym: "soft part sarcoma" EXACT [Orphanet:3394] -synonym: "soft tissue sarcoma" EXACT [NCIT:C9306] +synonym: "soft tissue sarcoma" EXACT [NCIT:C9306, Orphanet:3394] xref: EFO:1001968 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:4898 {source="MONDO:GARD"} xref: MEDGEN:1642116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -409606,7 +409687,7 @@ synonym: "thymic epithelial tumour" EXACT OMO:0003005 [] synonym: "thymic epithelium neoplasm" EXACT [NCIT:C6450] synonym: "thymoma, adult" RELATED [GARD:0005201] synonym: "Thymus epithelial neoplasm" EXACT [NCIT:C6450] -synonym: "thymus epithelial neoplasm" EXACT [MONDO:patterns/location] +synonym: "thymus epithelial neoplasm" EXACT [MONDO:patterns/location, NCIT:C6450] synonym: "Thymus epithelial tumor" EXACT [NCIT:C6450] synonym: "Thymus epithelial tumour" EXACT OMO:0003005 [] xref: GARD:5201 {source="MONDO:GARD"} @@ -409629,7 +409710,7 @@ name: obsolete rare germ cell tumor def: "OBSOLETE. Rare germ cell tumor." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:3399"} -synonym: "germ cell tumor" BROAD [Orphanet:3399] +synonym: "germ cell tumor" BROAD [] synonym: "rare germ cell tumor" EXACT [MONDO:patterns/rare] xref: Orphanet:3399 {source="MONDO:obsoleteEquivalent"} xref: SCTID:402878003 {source="MONDO:obsoleteEquivalent"} @@ -409671,7 +409752,7 @@ subset: ordo_disorder {source="Orphanet:3400"} subset: ordo_morphological_anomaly {source="Orphanet:3400"} subset: orphanet_rare {source="Orphanet:3400"} subset: rare -synonym: "aorto-ventricular tunnel" EXACT [MONDO:ambiguous] +synonym: "aorto-ventricular tunnel" EXACT [MONDO:ambiguous, Orphanet:3400] synonym: "aorto-ventricular tunnel (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:18798 {source="MONDO:GARD"} xref: HP:0011627 {source="MONDO:otherHierarchy"} @@ -409818,8 +409899,8 @@ synonym: "benign paroxysmal peritonitis" EXACT [DOID:2987, Orphanet:342] synonym: "benign recurrent polyserositis" EXACT [Orphanet:342] synonym: "familial paroxysmal polyserositis" EXACT [Orphanet:342] synonym: "Fiebre mediterránea familiar" EXACT [NORD:1130] -synonym: "FMF" EXACT ABBREVIATION [Orphanet:342] -synonym: "periodic disease" EXACT [Orphanet:342] +synonym: "FMF" EXACT ABBREVIATION [DOID:2987, NCIT:C84707, Orphanet:342] +synonym: "periodic disease" EXACT [icd11.foundation:1373335705, Orphanet:342] xref: DOID:2987 {source="MONDO:equivalentTo"} xref: GARD:6421 {source="MONDO:GARD"} xref: ICD10CM:E85.0 {source="DOID:2987", source="Orphanet:342/ntbt", source="Orphanet:342/inclusion", source="Orphanet:342"} @@ -409855,10 +409936,10 @@ subset: orphanet_rare {source="Orphanet:3426"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Dextrotransposition of aorta" EXACT [DOID:6406] -synonym: "DORV" EXACT ABBREVIATION [Orphanet:3426] -synonym: "double outlet right ventricle" EXACT [DOID:6406, ICD9CM:745.11] -synonym: "double outlet right ventricle with subpulmonary ventricular septal defect" RELATED EXCLUDE [DOID:6406] -synonym: "Taussig-Bing syndrome or defect" RELATED EXCLUDE [DOID:6406] +synonym: "DORV" EXACT ABBREVIATION [icd11.foundation:141717788, Orphanet:3426] +synonym: "double outlet right ventricle" EXACT [DOID:6406, ICD10CM:Q20.1, icd11.foundation:141717788, ICD9CM:745.11, NCIT:C98916, Orphanet:3426] +synonym: "double outlet right ventricle with subpulmonary ventricular septal defect" RELATED EXCLUDE [] +synonym: "Taussig-Bing syndrome or defect" RELATED EXCLUDE [] xref: DOID:6406 {source="MONDO:equivalentTo"} xref: GARD:1908 {source="MONDO:GARD"} xref: ICD10CM:Q20.1 {source="MONDO:equivalentTo", source="Orphanet:3426", source="Orphanet:3426/specific", source="Orphanet:3426/e"} @@ -409891,7 +409972,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:3427"} subset: orphanet_rare {source="Orphanet:3427"} subset: rare synonym: "DOLV" EXACT ABBREVIATION [Orphanet:3427] -synonym: "Double outlet left ventricle" EXACT [MONDO:ambiguous] +synonym: "Double outlet left ventricle" EXACT [icd11.foundation:2094997989, MONDO:ambiguous, Orphanet:3427] synonym: "double outlet left ventricle (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:1907 {source="MONDO:GARD"} xref: HP:0011581 {source="MONDO:otherHierarchy"} @@ -409951,7 +410032,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Harada's disease" EXACT [DOID:12297, ICD9CM:363.22] synonym: "Uveomenigitic syndrome" EXACT [Orphanet:3437] -synonym: "uveomeningoencephalitic syndrome" EXACT [DOID:12297] +synonym: "uveomeningoencephalitic syndrome" EXACT [DOID:12297, NCIT:C85218] synonym: "VKH disease" RELATED [GARD:0007862] synonym: "VKH syndrome" RELATED [GARD:0007862] synonym: "Vogt-Koyanagi syndrome" EXACT [DOID:12297, ICD9CM:364.24] @@ -410016,8 +410097,8 @@ synonym: "Mende syndrome" RELATED [GARD:0005525] synonym: "Van der Hoeve Halbertsma Waardenburg Gualdi syndrome" RELATED [GARD:0005525] synonym: "van der Hoeve Halbertsona Waardenburg syndrome" EXACT [DOID:9258] synonym: "Waardenburg Shah syndrome" EXACT [DOID:9258] -synonym: "Waardenburg syndrome" EXACT CLINGEN_LABEL [DOID:9258] -synonym: "Waardenburg's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Waardenburg syndrome" EXACT CLINGEN_LABEL [DOID:9258, icd11.foundation:304883627, NCIT:C85222, OMIMPS:193500, Orphanet:3440] +synonym: "Waardenburg's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:9258, MONDO:LexicalVariant, NCIT:C85222] synonym: "Waardenburg, types I and/or II" NARROW [DOID:9258] xref: DOID:9258 {source="MONDO:equivalentTo"} xref: GARD:5525 {source="MONDO:GARD"} @@ -410082,7 +410163,7 @@ subset: orphanet_rare {source="Orphanet:3449"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital mesodermal dystrophy" EXACT [DOID:0050475] -synonym: "GEMSS syndrome" RELATED EXCLUDE [DOID:0050475] +synonym: "GEMSS syndrome" RELATED EXCLUDE [] synonym: "Marchesani-Weill syndrome" EXACT [DOID:0050475] synonym: "mesodermal dysmorphodystrophy congenital" RELATED [GARD:0004936] synonym: "mesodermal Dysmorphodystrophy, congenital" EXACT [DOID:0050475] @@ -410125,9 +410206,9 @@ subset: ordo_disorder {source="Orphanet:3451"} subset: orphanet_rare {source="Orphanet:3451"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "infantile spasms" EXACT [Orphanet:3451] +synonym: "infantile spasms" EXACT [icd11.foundation:1023597213] synonym: "Infantile spasms syndrome" RELATED [DOID:0050562] -synonym: "intellectual disability-hypsarrhythmia syndrome" EXACT [Orphanet:3451] +synonym: "intellectual disability-hypsarrhythmia syndrome" EXACT [] synonym: "tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG" RELATED [GARD:0007887] synonym: "West's syndrome" RELATED [GARD:0007887] synonym: "X-linked infantile spasm syndrome" RELATED [GARD:0007887] @@ -410163,7 +410244,7 @@ comment: Terminology notes: See comments for LGMD1D subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LGMD1E" EXACT ABBREVIATION [Orphanet:34517] +synonym: "LGMD1E" EXACT ABBREVIATION [] synonym: "limb-girdle muscular dystrophy type 1E" RELATED [GARD:0012529] xref: DOID:0110305 {source="MONDO:relatedTo", source="MONDO:directSiblingOf"} xref: ICD10CM:G71.0 {source="Orphanet:34517/attributed", source="Orphanet:34517/ntbt"} @@ -410189,7 +410270,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial primary hypomagnesemia" EXACT [NCIT:C123263] synonym: "HOMG" EXACT ABBREVIATION [DOID:0060879] -synonym: "hypomagnesemia" BROAD [OMIMPS:602014] +synonym: "hypomagnesemia" BROAD [] synonym: "primary familial hypomagnesemia" EXACT [DOID:0060879] xref: DOID:0060879 {source="MONDO:equivalentTo"} xref: ICD10CM:E83.4 {source="Orphanet:34526/attributed", source="Orphanet:34526/ntbt", source="Orphanet:34526", source="DOID:0060879"} @@ -410231,7 +410312,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:34533"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "corneal dystrophy" EXACT [MONDO:ambiguous] +synonym: "corneal dystrophy" EXACT [DOID:2566, MONDO:ambiguous, NCIT:C34513, Orphanet:34533] synonym: "corneal dystrophy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:2566 {source="MONDO:equivalentTo"} xref: HP:0001131 {source="MONDO:otherHierarchy"} @@ -410304,11 +410385,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome" EXACT [NCIT:C35133] synonym: "diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome" EXACT [Orphanet:3463] -synonym: "diabetes mellitus and insipidus with optic atrophy and deafness" EXACT [DOID:10632] -synonym: "DIDMOAD" EXACT ABBREVIATION [DOID:10632] +synonym: "diabetes mellitus and insipidus with optic atrophy and deafness" EXACT [] +synonym: "DIDMOAD" EXACT ABBREVIATION [NCIT:C35133] synonym: "DIDMOAD syndrome" EXACT [Orphanet:3463] synonym: "WFS" EXACT ABBREVIATION [DOID:10632] -synonym: "Wolfram syndrome" EXACT CLINGEN_LABEL [] +synonym: "Wolfram syndrome" EXACT CLINGEN_LABEL [DOID:10632, icd11.foundation:151381747, NCIT:C35133, Orphanet:3463] xref: DOID:10632 {source="MONDO:equivalentTo"} xref: GARD:7898 {source="MONDO:GARD"} xref: ICD10CM:E13.8 {source="Orphanet:3463", source="Orphanet:3463/attributed", source="Orphanet:3463/ntbt"} @@ -410338,13 +410419,13 @@ subset: ordo_disorder {source="Orphanet:3467"} subset: orphanet_rare {source="Orphanet:3467"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "classic xanthinuria" EXACT [Orphanet:3467] -synonym: "hereditary xanthinuria" EXACT [MONDO:patterns/hereditary] +synonym: "classic xanthinuria" EXACT [DOID:0060236, Orphanet:3467] +synonym: "hereditary xanthinuria" EXACT [DOID:0060236, MONDO:patterns/hereditary, Orphanet:3467] synonym: "xanthic urolithiasis" EXACT [Orphanet:3467] synonym: "xanthine dehydrogenase deficiency" EXACT [DOID:0060236] -synonym: "xanthine oxidase deficiency" RELATED EXCLUDE [DOID:0060236] +synonym: "xanthine oxidase deficiency" RELATED EXCLUDE [] synonym: "xanthine stone disease" EXACT [Orphanet:3467] -synonym: "xanthinuria" RELATED [DOID:0060236] +synonym: "xanthinuria" RELATED [] xref: DOID:0060236 {source="MONDO:equivalentTo"} xref: GARD:16628 {source="MONDO:GARD"} xref: HP:0010934 {source="MONDO:otherHierarchy", source="DOID:0060236"} @@ -410384,7 +410465,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:35062"} subset: orphanet_rare {source="Orphanet:35062"} subset: rare -synonym: "idiopathic disseminated CMV infection" EXACT [Orphanet:35062] +synonym: "idiopathic disseminated CMV infection" EXACT [] xref: GARD:18811 {source="MONDO:GARD"} xref: ICD10CM:B25.8 {source="Orphanet:35062", source="Orphanet:35062/ntbt"} xref: MEDGEN:1826159 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -410437,8 +410518,8 @@ name: obsolete isolated scaphocephaly def: "OBSOLETE. Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture." [Orphanet:35093] subset: ordo_disorder {source="Orphanet:35093"} subset: otar {source="MONDO:OTAR"} -synonym: "isolated dolichocephaly" EXACT [Orphanet:35093] -synonym: "non-syndromic sagittal synostosis" EXACT [Orphanet:35093] +synonym: "isolated dolichocephaly" EXACT [] +synonym: "non-syndromic sagittal synostosis" EXACT [] xref: ICD10CM:Q75.0 {source="Orphanet:35093/attributed", source="Orphanet:35093/ntbt", source="Orphanet:35093"} xref: NANDO:2201302 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:35093 {source="MONDO:obsoleteEquivalent"} @@ -410455,8 +410536,8 @@ id: MONDO:0018113 name: obsolete isolated plagiocephaly def: "OBSOLETE. Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry." [Orphanet:35098] subset: otar {source="MONDO:OTAR"} -synonym: "non-syndromic unicoronal synostosis" EXACT [Orphanet:35098] -synonym: "synostotic plagiocephaly" EXACT [Orphanet:35098] +synonym: "non-syndromic unicoronal synostosis" EXACT [] +synonym: "synostotic plagiocephaly" EXACT [] xref: ICD10CM:Q67.3 {source="Orphanet:35098/specific", source="Orphanet:35098", source="Orphanet:35098/e"} xref: Orphanet:35098 {source="MONDO:obsoleteEquivalentObsolete"} relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease @@ -410473,7 +410554,7 @@ name: obsolete isolated brachycephaly def: "OBSOLETE. Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges." [Orphanet:35099] subset: ordo_disorder {source="Orphanet:35099"} subset: otar {source="MONDO:OTAR"} -synonym: "non-syndromic bicoronal synostosis" EXACT [Orphanet:35099] +synonym: "non-syndromic bicoronal synostosis" EXACT [] xref: ICD10CM:Q75.0 {source="Orphanet:35099/attributed", source="Orphanet:35099/ntbt", source="Orphanet:35099"} xref: Orphanet:35099 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015368 {source="https://orcid.org/0000-0001-5208-3432"} ! obsolete neuro-ophthalmological disease @@ -410521,7 +410602,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "galactosaemia" EXACT [DOID:9870] synonym: "galactose intolerance" EXACT [DOID:9870] -synonym: "galactosemia" EXACT [MONDO:0004908] +synonym: "galactosemia" EXACT [DOID:9870, MONDO:0004908, NCIT:C84723, OMIMPS:230400, Orphanet:352] xref: DOID:9870 {source="MONDO:equivalentTo"} xref: GARD:2424 {source="MONDO:GARD"} xref: ICD10CM:E74.2 {source="Orphanet:352/inclusion", source="Orphanet:352/ntbt", source="Orphanet:352"} @@ -410637,7 +410718,7 @@ subset: orphanet_rare {source="Orphanet:352530"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive intellectual disability due to TRAPPC9 deficiency" EXACT [Orphanet:352530] -synonym: "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" EXACT CLINGEN_LABEL [] +synonym: "intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" EXACT CLINGEN_LABEL [Orphanet:352530] xref: GARD:21521 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:352530/attributed", source="Orphanet:352530/ntbt", source="Orphanet:352530"} xref: MEDGEN:1644787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -410786,8 +410867,8 @@ subset: ordo_disorder {source="Orphanet:352649"} subset: orphanet_rare {source="Orphanet:352649"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "parkinsonism-dystonia, infantile, 2" EXACT [OMIM:618049] -synonym: "PKDYS2" EXACT ABBREVIATION [OMIM:618049] +synonym: "parkinsonism-dystonia, infantile, 2" EXACT [] +synonym: "PKDYS2" EXACT ABBREVIATION [DOID:0070490, OMIM:618049] xref: DOID:0070490 {source="MONDO:equivalentTo"} xref: GARD:13594 {source="MONDO:GARD"} xref: ICD10CM:G25.8 {source="Orphanet:352649/attributed", source="Orphanet:352649/ntbt", source="Orphanet:352649"} @@ -410811,8 +410892,8 @@ subset: ordo_etiological_subtype {source="Orphanet:352665"} subset: ordo_subtype_of_a_disorder {source="Orphanet:352665"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "9q21 microdeletion syndrome" EXACT [Orphanet:352665] -synonym: "Del(9)(q21)" EXACT [Orphanet:352665] +synonym: "9q21 microdeletion syndrome" EXACT [] +synonym: "Del(9)(q21)" EXACT [] xref: GARD:21526 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:352665", source="Orphanet:352665/attributed", source="Orphanet:352665/ntbt"} xref: MEDGEN:1842292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -410830,8 +410911,8 @@ name: obsolete congenital muscular alpha-dystroglycanopathy with brain and eye a def: "OBSOLETE. Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy." [Orphanet:352687] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: muscular dystrophy-dystroglycanopathy' subset: ordo_group_of_disorders {source="Orphanet:352687"} -synonym: "lissencephaly type 2 with muscular and ocular involvement" EXACT [Orphanet:352687] -synonym: "MDDGA" EXACT ABBREVIATION [Orphanet:352687] +synonym: "lissencephaly type 2 with muscular and ocular involvement" EXACT [] +synonym: "MDDGA" EXACT ABBREVIATION [] xref: DOID:0111229 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:352687 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -410851,8 +410932,8 @@ subset: ordo_disorder {source="Orphanet:352723"} subset: orphanet_rare {source="Orphanet:352723"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "attenuated Chediak-Higashi syndrome" EXACT [Orphanet:352723] -synonym: "atypical Chediak-Higashi syndrome" EXACT [Orphanet:352723] +synonym: "attenuated Chediak-Higashi syndrome" EXACT [] +synonym: "atypical Chediak-Higashi syndrome" EXACT [] synonym: "atypical Chédiak-Higashi syndrome" EXACT [Orphanet:352723] xref: GARD:21527 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:352723/attributed", source="Orphanet:352723/ntbt", source="Orphanet:352723"} @@ -410890,7 +410971,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ATN" RELATED ABBREVIATION [GARD:0004037] synonym: "OCA1" EXACT ABBREVIATION [Orphanet:352731] -synonym: "oculocutaneous albinism type 1" EXACT CLINGEN_LABEL [] +synonym: "oculocutaneous albinism type 1" EXACT CLINGEN_LABEL [Orphanet:352731] synonym: "oculocutaneous albinism, tyrosinase negative" RELATED [GARD:0004037] xref: GARD:4037 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="Orphanet:352731", source="Orphanet:352731/attributed", source="Orphanet:352731/ntbt"} @@ -410914,7 +410995,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:352734"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MP OCA type 1" EXACT [Orphanet:352734] -synonym: "OCA1-MP" EXACT [Orphanet:352734] +synonym: "OCA1-MP" EXACT ABBREVIATION [Orphanet:352734] xref: GARD:21529 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="Orphanet:352734/attributed", source="Orphanet:352734/ntbt", source="Orphanet:352734"} xref: ICD9:270.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -410933,7 +411014,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:352737"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OCA1-TS" EXACT [Orphanet:352737] +synonym: "OCA1-TS" EXACT ABBREVIATION [Orphanet:352737] synonym: "TS OCA type 1" EXACT [Orphanet:352737] xref: GARD:17530 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="Orphanet:352737/attributed", source="Orphanet:352737/ntbt", source="Orphanet:352737"} @@ -410945,17 +411026,17 @@ is_a: MONDO:0018135 {source="Orphanet:352737"} ! oculocutaneous albinism type 1 [Term] id: MONDO:0018138 name: obsolete ocular albinism with congenital sensorineural hearing loss -synonym: "albinism, ocular, with sensorineural deafness" NARROW [OMIM:103470] -synonym: "autosomal recessive Waardenburg syndrome type 2 with ocular albinism" EXACT [DOID:0090100] -synonym: "digenic Waardenburg syndrome/albinism" EXACT [DOID:0090100] -synonym: "digenic Waardenburg syndrome/ocular albinism" EXACT [DOID:0090100] -synonym: "ocular albinism with congenital sensorineural deafness" NARROW [Orphanet:352740] +synonym: "albinism, ocular, with sensorineural deafness" NARROW [] +synonym: "autosomal recessive Waardenburg syndrome type 2 with ocular albinism" EXACT [] +synonym: "digenic Waardenburg syndrome/albinism" EXACT [] +synonym: "digenic Waardenburg syndrome/ocular albinism" EXACT [] +synonym: "ocular albinism with congenital sensorineural deafness" NARROW [] synonym: "ocular albinism with sensorineural deafness" NARROW [MONDO:0007076] -synonym: "Waardenburg syndrome type 2 with ocular albinism" EXACT [Orphanet:352740] -synonym: "Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive" RELATED [OMIM:103470] -synonym: "Waardenburg syndrome/albinism, digenic" EXACT [OMIM:103470, OMIM:genemap2] -synonym: "Waardenburg syndrome/ocular albinism, digenic" EXACT [OMIM:103470, OMIM:genemap2] -synonym: "WS2-OA" EXACT [DOID:0090100] +synonym: "Waardenburg syndrome type 2 with ocular albinism" EXACT [] +synonym: "Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive" RELATED [] +synonym: "Waardenburg syndrome/albinism, digenic" EXACT [] +synonym: "Waardenburg syndrome/ocular albinism, digenic" EXACT [] +synonym: "WS2-OA" EXACT [] xref: DOID:0090100 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E70.3 {source="Orphanet:352740/attributed", source="Orphanet:352740/ntbt", source="DOID:0090100", source="Orphanet:352740"} xref: OMIM:103470 {source="DOID:0090100", source="Orphanet:352740", source="Orphanet:352740/e", source="MONDO:obsoleteEquivalentObsolete"} @@ -410993,7 +411074,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:353308"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "pyruvate carboxylase deficiency type A" EXACT [Orphanet:353308] -synonym: "pyruvate carboxylase deficiency, infantile type" RELATED [Orphanet:353308] +synonym: "pyruvate carboxylase deficiency, infantile type" RELATED [] xref: GARD:17536 {source="MONDO:GARD"} xref: ICD10CM:E74.4 {source="Orphanet:353308/attributed", source="Orphanet:353308/ntbt", source="Orphanet:353308"} xref: MEDGEN:1842180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -411127,9 +411208,9 @@ subset: orphanet_rare {source="Orphanet:353356"} subset: rare synonym: "retinal vasoproliferative tumor" EXACT [Orphanet:353356] synonym: "retinal vasoproliferative tumour" EXACT OMO:0003005 [] -synonym: "vasoproliferative tumor of ocular fundus" EXACT [Orphanet:353356] +synonym: "vasoproliferative tumor of ocular fundus" EXACT [] synonym: "vasoproliferative tumor of the ocular fundus" EXACT [Orphanet:353356] -synonym: "vasoproliferative tumor of the retina" RELATED [Orphanet:353356] +synonym: "vasoproliferative tumor of the retina" RELATED [] synonym: "vasoproliferative tumour of ocular fundus" EXACT OMO:0003005 [] synonym: "vasoproliferative tumour of the ocular fundus" EXACT OMO:0003005 [] synonym: "vasoproliferative tumour of the retina" RELATED OMO:0003005 [] @@ -411157,12 +411238,12 @@ synonym: "beta-galactosidase deficiency" EXACT [DOID:3322] synonym: "Beta-galactosidase-1 deficiency" EXACT [Orphanet:354] synonym: "Beta-galactosidosis" RELATED [GARD:0010891] synonym: "deficiency of beta-galactosidase" EXACT [DOID:3322] -synonym: "gangliosidosis GM1" EXACT [MONDO:0002609] +synonym: "gangliosidosis GM1" EXACT [DOID:3322, MONDO:0002609] synonym: "GLB 1 deficiency" RELATED [GARD:0010891] synonym: "GLB1 deficiency" EXACT [Orphanet:354] -synonym: "GM>1< gangliosidosis" EXACT [DOID:3322] -synonym: "Landing disease" EXACT [Orphanet:354] -synonym: "Landing syndrome" EXACT [DOID:3322] +synonym: "GM>1< gangliosidosis" EXACT [] +synonym: "Landing disease" EXACT [icd11.foundation:401105928, Orphanet:354] +synonym: "Landing syndrome" EXACT [] xref: DOID:3322 {source="MONDO:equivalentTo"} xref: GARD:10891 {source="MONDO:GARD"} xref: ICD10CM:E75.1 {source="Orphanet:354/ntbt", source="Orphanet:354/inclusion", source="Orphanet:354"} @@ -411200,24 +411281,24 @@ subset: ordo_disorder {source="Orphanet:355"} subset: orphanet_rare {source="Orphanet:355"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acid beta-glucosidase deficiency" EXACT [DOID:1926, Orphanet:355] +synonym: "acid beta-glucosidase deficiency" EXACT [DOID:1926, icd11.foundation:1923566939, Orphanet:355] synonym: "acute cerebral Gaucher disease" NARROW [GARD:0008233] synonym: "cerebroside lipidosis syndrome" RELATED [] -synonym: "Gaucher disease" EXACT CLINGEN_LABEL [DOID:1926] +synonym: "Gaucher disease" EXACT CLINGEN_LABEL [DOID:1926, ICD10CM:E75.22, icd11.foundation:1923566939, NCIT:C61268, Orphanet:355] synonym: "Gaucher splenomegaly" RELATED [] synonym: "Gaucher syndrome" EXACT [] synonym: "Gaucher's disease" EXACT [DOID:1926] synonym: "glocucerebrosidase deficiency" EXACT [DOID:1926] -synonym: "glucocerebrosidase deficiency" EXACT [Orphanet:355] -synonym: "glucocerebrosidosis" EXACT [] +synonym: "glucocerebrosidase deficiency" EXACT [icd11.foundation:1923566939, Orphanet:355] +synonym: "glucocerebrosidosis" EXACT [icd11.foundation:1923566939] synonym: "glucosyl cerebroside lipidosis" RELATED [GARD:0008233] synonym: "glucosylceramidase deficiency" EXACT [] -synonym: "glucosylceramide beta-glucosidase deficiency" EXACT [DOID:1926] +synonym: "glucosylceramide beta-glucosidase deficiency" EXACT [DOID:1926, icd11.foundation:1923566939, NCIT:C61268] synonym: "kerasin histiocytosis" RELATED [] synonym: "kerasin lipoidosis" RELATED [] synonym: "kerasin thesaurismosis" EXACT [DOID:1926] -synonym: "lipoid histiocytosis" RELATED EXCLUDE [DOID:1926] -synonym: "lipoid histiocytosis (kerasin type)" EXACT [DOID:1926] +synonym: "lipoid histiocytosis" RELATED EXCLUDE [] +synonym: "lipoid histiocytosis (kerasin type)" EXACT [] synonym: "sphingolipidosis 1" RELATED [GARD:0008233] xref: DOID:1926 {source="MONDO:equivalentTo"} xref: GARD:8233 {source="MONDO:GARD"} @@ -411251,9 +411332,9 @@ subset: gard_rare {source="GARD:10423", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:35656"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "coenzyme Q10 deficiency disease" EXACT [MONDO:0000423] -synonym: "coenzyme Q10 deficiency, primary" EXACT [DOID:0050730] -synonym: "CoQ10 deficiency" EXACT [Orphanet:35656] +synonym: "coenzyme Q10 deficiency disease" EXACT [DOID:0050730, MONDO:0000423] +synonym: "coenzyme Q10 deficiency, primary" EXACT [DOID:0050730, OMIMPS:607426] +synonym: "CoQ10 deficiency" EXACT [icd11.foundation:1251664337, Orphanet:35656] synonym: "CoQ10 deficiency, primary" RELATED [GARD:0010423] xref: DOID:0050730 {source="MONDO:equivalentTo"} xref: GARD:10423 {source="MONDO:GARD"} @@ -411320,7 +411401,7 @@ subset: rare synonym: "ECD" RELATED ABBREVIATION [ONCOTREE:ECD] synonym: "Erdheim Chester Disease" EXACT [NORD:1102] synonym: "Erdheim Chester disease" RELATED [GARD:0006369] -synonym: "Erdheim-Chester disease" EXACT [NCIT:C53972] +synonym: "Erdheim-Chester disease" EXACT [DOID:4329, icd11.foundation:1395439137, NCIT:C53972, Orphanet:35687] synonym: "lipogranulomatosis" EXACT [NCIT:C53972] synonym: "lipoid granulomatosis" RELATED [GARD:0006369] synonym: "polyostotic sclerosing histiocytosis" EXACT [NCIT:C53972] @@ -411380,7 +411461,7 @@ subset: rare synonym: "adult-onset PLS" EXACT [Orphanet:35689] synonym: "adult-onset primary lateral sclerosis" EXACT [DOID:230, Orphanet:35689] synonym: "PLS" EXACT ABBREVIATION [Orphanet:35689] -synonym: "primary lateral sclerosis" EXACT [DOID:230, ICD9CM:335.24] +synonym: "primary lateral sclerosis" EXACT [DOID:230, icd11.foundation:1686688462, ICD9CM:335.24, NCIT:C129933, Orphanet:35689] xref: DOID:230 {source="MONDO:equivalentTo"} xref: GARD:10684 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:35689", source="Orphanet:35689/ntbt", source="Orphanet:35689/inclusion"} @@ -411407,9 +411488,9 @@ subset: ordo_disorder {source="Orphanet:356947"} subset: ordo_malformation_syndrome {source="Orphanet:356947"} subset: orphanet_rare {source="Orphanet:356947"} subset: rare -synonym: "3q26-q27microdeletion syndrome" EXACT [Orphanet:356947] +synonym: "3q26-q27microdeletion syndrome" EXACT [] synonym: "Del(3)(q26q27)" EXACT [Orphanet:356947] -synonym: "monosomy 3q26-q27" EXACT [Orphanet:356947] +synonym: "monosomy 3q26-q27" EXACT [] synonym: "monosomy 3q26q27" EXACT [Orphanet:356947] xref: GARD:21534 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:356947/attributed", source="Orphanet:356947/ntbt", source="Orphanet:356947"} @@ -411425,10 +411506,10 @@ id: MONDO:0018157 name: obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: inborn mitochondrial metabolism disorder' subset: ordo_group_of_disorders {source="Orphanet:35696"} -synonym: "combined oxidative phosphorylation defect" EXACT [Orphanet:35696] -synonym: "combined OXPHOS defect" EXACT [Orphanet:35696] -synonym: "combined OXPHOS deficiency" EXACT [Orphanet:35696] -synonym: "COXPD" EXACT ABBREVIATION [Orphanet:35696] +synonym: "combined oxidative phosphorylation defect" EXACT [] +synonym: "combined OXPHOS defect" EXACT [] +synonym: "combined OXPHOS deficiency" EXACT [] +synonym: "COXPD" EXACT ABBREVIATION [] xref: ICD10CM:E88.8 {source="Orphanet:35696/attributed", source="Orphanet:35696/ntbt", source="Orphanet:35696"} xref: Orphanet:35696 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -411445,7 +411526,7 @@ subset: gard_rare {source="GARD:13643", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:35698"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mtDNA depletion syndrome" EXACT [Orphanet:35698] +synonym: "mtDNA depletion syndrome" EXACT [DOID:0070329, icd11.foundation:1159345506, Orphanet:35698] xref: DOID:0070329 {source="MONDO:equivalentTo"} xref: GARD:13643 {source="MONDO:GARD"} xref: ICD10CM:G71.3 {source="Orphanet:35698/attributed", source="Orphanet:35698/ntbt", source="Orphanet:35698"} @@ -411471,10 +411552,10 @@ subset: ordo_etiological_subtype {source="Orphanet:357008"} subset: orphanet_rare {source="Orphanet:357008"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aHUS with DGKE deficiency" EXACT [Orphanet:357008] -synonym: "atypical HUS with DGKE deficiency" EXACT [Orphanet:357008] -synonym: "D-HUS with DGKE deficiency" EXACT [Orphanet:357008] -synonym: "hemolytic-uremic syndrome without diarrhea with DGKE deficiency" EXACT [Orphanet:357008] +synonym: "aHUS with DGKE deficiency" EXACT [] +synonym: "atypical HUS with DGKE deficiency" EXACT [] +synonym: "D-HUS with DGKE deficiency" EXACT [] +synonym: "hemolytic-uremic syndrome without diarrhea with DGKE deficiency" EXACT [] synonym: "hemolytic-uremic syndrome without diarrhoea with DGKE deficiency" EXACT OMO:0003005 [] xref: DOID:0080388 {source="MONDO:equivalentTo"} xref: GARD:17543 {source="MONDO:GARD"} @@ -411493,11 +411574,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:357027"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial retinoblastoma" EXACT [MONDO:0003074] -synonym: "hereditary retinoblastoma" EXACT CLINGEN_LABEL [DOID:4648, MONDO:patterns/hereditary, NCIT:C8495] +synonym: "familial retinoblastoma" EXACT [DOID:4648, MONDO:0003074, NCIT:C8495] +synonym: "hereditary retinoblastoma" EXACT CLINGEN_LABEL [DOID:4648, MONDO:patterns/hereditary, NCIT:C8495, Orphanet:357027] synonym: "RB1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:180200] -synonym: "retinoblastoma, autosomal dominant, somatic mutation" EXACT [OMIM:180200, OMIM:genemap2] -synonym: "retinoblastoma, trilateral, autosomal dominant, somatic mutation" EXACT [OMIM:180200, OMIM:genemap2] +synonym: "retinoblastoma, autosomal dominant, somatic mutation" EXACT [] +synonym: "retinoblastoma, trilateral, autosomal dominant, somatic mutation" EXACT [] xref: DOID:4648 {source="MONDO:equivalentTo"} xref: GARD:17544 {source="MONDO:GARD"} xref: ICD10CM:C69.2 {source="Orphanet:357027/attributed", source="Orphanet:357027/ntbt", source="Orphanet:357027"} @@ -411542,7 +411623,7 @@ subset: gard_rare {source="GARD:18815", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:35705"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neurometabolic disorder due to serine deficiency" EXACT CLINGEN_LABEL [] +synonym: "neurometabolic disorder due to serine deficiency" EXACT CLINGEN_LABEL [Orphanet:35705] synonym: "serine deficiency" EXACT [Orphanet:35705] xref: GARD:18815 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:35705", source="Orphanet:35705/attributed", source="Orphanet:35705/ntbt"} @@ -411566,7 +411647,7 @@ subset: orphanet_rare {source="Orphanet:357058"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ARCL2A" EXACT ABBREVIATION [DOID:0070134, OMIM:219200, Orphanet:357058] -synonym: "autosomal recessive cutis laxa type 2A" EXACT CLINGEN_LABEL [] +synonym: "autosomal recessive cutis laxa type 2A" EXACT CLINGEN_LABEL [Orphanet:357058] synonym: "autosomal recessive cutis laxa type IIA" EXACT [DOID:0070134] synonym: "cutis laxa with bone dystrophy" EXACT [OMIM:219200] synonym: "cutis laxa with congenital disorder of glycosylation" EXACT [OMIM:219200] @@ -411574,7 +411655,7 @@ synonym: "cutis laxa with growth and developmental delay" EXACT [OMIM:219200] synonym: "cutis laxa with Joint laxity and retarded development" EXACT [OMIM:219200] synonym: "cutis laxa, autosomal recessive type 2A" EXACT [GARD:0001638] synonym: "cutis laxa, autosomal recessive, type 2A" EXACT [OMIM:219200] -synonym: "cutis laxa, autosomal recessive, type IIA" EXACT [MONDO:Lexical, OMIM:219200] +synonym: "cutis laxa, autosomal recessive, type IIA" EXACT [MONDO:Lexical] synonym: "cutis laxa, debre type" EXACT [OMIM:219200] xref: DOID:0070134 {source="MONDO:equivalentTo"} xref: GARD:1638 {source="MONDO:GARD"} @@ -411654,7 +411735,7 @@ subset: ordo_disorder {source="Orphanet:357154"} subset: orphanet_rare {source="Orphanet:357154"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "oral cavity submucous fibrosis" EXACT [DOID:5773] +synonym: "oral cavity submucous fibrosis" EXACT [DOID:5773, NCIT:C34866] synonym: "oral submucosal fibrosis" EXACT [DOID:5773] synonym: "oral submucosal fibrosis, including of tongue" EXACT [DOID:5773, ICD9CM:528.8] synonym: "OSMF" EXACT ABBREVIATION [Orphanet:357154] @@ -411724,7 +411805,7 @@ subset: orphanet_rare {source="Orphanet:35737"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Ectasic coloboma" EXACT [Orphanet:35737] -synonym: "Volubilis syndrome" EXACT [Orphanet:35737] +synonym: "Volubilis syndrome" EXACT [] xref: GARD:13354 {source="MONDO:GARD"} xref: ICD10CM:Q14.2 {source="Orphanet:35737/attributed", source="Orphanet:35737/ntbt", source="Orphanet:35737"} xref: MedDRA:10027974 {source="Orphanet:35737", source="Orphanet:35737/e"} @@ -411766,10 +411847,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "malignant germ cell neoplasm of ovary" EXACT [NCIT:C4514] synonym: "malignant germ cell neoplasm of the ovary" EXACT [NCIT:C4514] -synonym: "malignant germ cell tumor of ovary" EXACT [NCIT:C4514] +synonym: "malignant germ cell tumor of ovary" EXACT [DOID:2155, NCIT:C4514, Orphanet:35807] synonym: "malignant germ cell tumor of the ovary" EXACT [NCIT:C4514] synonym: "malignant germ cell tumour of the ovary" EXACT OMO:0003005 [] -synonym: "malignant ovarian germ cell neoplasm" EXACT [MONDO:0002231, NCIT:C4514] +synonym: "malignant ovarian germ cell neoplasm" EXACT [DOID:2155, MONDO:0002231, NCIT:C4514] synonym: "malignant ovarian germ cell tumor" EXACT [DOID:2155, NCIT:C4514, Orphanet:35807] synonym: "malignant ovarian germ cell tumour" EXACT OMO:0003005 [] synonym: "MOGCT" EXACT ABBREVIATION [Orphanet:35807] @@ -411803,8 +411884,8 @@ subset: ordo_group_of_disorders {source="Orphanet:35808"} subset: rare synonym: "malignant ovarian SCST" EXACT [Orphanet:35808] synonym: "malignant ovarian Sex cord-stromal neoplasm" EXACT [NCIT:C8053] -synonym: "malignant ovarian Sex cord-stromal tumor" EXACT [NCIT:C8053] -synonym: "malignant ovarian sex cord-stromal tumor" EXACT [Orphanet:35808] +synonym: "malignant ovarian Sex cord-stromal tumor" EXACT [NCIT:C8053, Orphanet:35808] +synonym: "malignant ovarian sex cord-stromal tumor" EXACT [NCIT:C8053, Orphanet:35808] synonym: "malignant ovarian Sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "malignant ovarian sex cord-stromal tumour" EXACT OMO:0003005 [] synonym: "malignant Sex cord-stromal tumor of ovary" EXACT [NCIT:C8053] @@ -411872,9 +411953,9 @@ subset: ordo_disorder {source="Orphanet:35909"} subset: orphanet_rare {source="Orphanet:35909"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined deficiency of factor V and factor type VIII" EXACT [MONDORULE:3, Orphanet:35909] +synonym: "combined deficiency of factor V and factor type VIII" EXACT [MONDORULE:3] synonym: "F5F8D" EXACT ABBREVIATION [Orphanet:35909] -synonym: "familial multiple coagulation factor deficiency" EXACT [Orphanet:35909] +synonym: "familial multiple coagulation factor deficiency" EXACT [icd11.foundation:184219764] synonym: "FV and FVIII combined deficiency" EXACT [Orphanet:35909] xref: GARD:16639 {source="MONDO:GARD"} xref: ICD10CM:D68.8 {source="Orphanet:35909/attributed", source="Orphanet:35909/ntbt", source="Orphanet:35909"} @@ -411903,24 +411984,24 @@ subset: ordo_disorder {source="Orphanet:360"} subset: orphanet_rare {source="Orphanet:360"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult glioblastoma multiforme" RELATED EXCLUDE [DOID:3068] +synonym: "adult glioblastoma multiforme" RELATED EXCLUDE [] synonym: "GBM" EXACT ABBREVIATION [DOID:3068, NCIT:C3058, Orphanet:360] -synonym: "GBM (glioblastoma)" EXACT [DOID:3068, NCIT:C3058] +synonym: "GBM (glioblastoma)" EXACT [NCIT:C3058] synonym: "giant cell glioblastoma (histologic variant)" RELATED [GARD:0002491] -synonym: "glioblastoma" EXACT [MONDO:ambiguous, NCIT:C3058] +synonym: "glioblastoma" EXACT [DOID:3068, MONDO:ambiguous, NCIT:C3058, Orphanet:360] synonym: "glioblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "glioblastoma multiforme" EXACT [NCIT:C3058, Orphanet:360] +synonym: "glioblastoma multiforme" EXACT [DOID:3068, NCIT:C3058, Orphanet:360] synonym: "glioblastoma multiforme (disease)" EXACT [MONDO:0002498] synonym: "gliosarcoma (histologic variant)" RELATED [GARD:0002491] -synonym: "grade IV adult astrocytic tumor" NARROW [DOID:3068, NCIT:C9094] +synonym: "grade IV adult astrocytic tumor" NARROW [] synonym: "grade IV adult astrocytic tumour" NARROW OMO:0003005 [] -synonym: "grade IV astrocytic neoplasm" EXACT [NCIT:C3058] -synonym: "grade IV astrocytic tumor" EXACT [NCIT:C3058] +synonym: "grade IV astrocytic neoplasm" EXACT [] +synonym: "grade IV astrocytic tumor" EXACT [] synonym: "grade IV astrocytic tumour" EXACT OMO:0003005 [] -synonym: "grade IV astrocytoma" EXACT [NCIT:C3058] +synonym: "grade IV astrocytoma" EXACT [] synonym: "primary glioblastoma multiforme" EXACT [DOID:3068] synonym: "spongioblastoma multiforme" EXACT [DOID:3068, NCIT:C3058] -synonym: "WHO grade IV glioma" EXACT [NCIT:C3058] +synonym: "WHO grade IV glioma" EXACT [] xref: DOID:3068 {source="MONDO:equivalentTo"} xref: EFO:0000519 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:2491 {source="MONDO:GARD"} @@ -411960,7 +412041,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:36204"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intestinal lymphangiectasia" EXACT [MONDO:ambiguous] +synonym: "intestinal lymphangiectasia" EXACT [icd11.foundation:1255239964, MONDO:ambiguous, Orphanet:36204] synonym: "intestinal lymphangiectasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:12331 {source="MONDO:GARD"} xref: HP:0002593 {source="MONDO:otherHierarchy"} @@ -412012,11 +412093,11 @@ synonym: "dermatitis exfoliativa neonatorum" EXACT [DOID:9063] synonym: "generalised exfoliative disease" EXACT OMO:0003005 [] synonym: "generalized exfoliative disease" EXACT [Orphanet:36236] synonym: "pemphigus neonatorum" EXACT [DOID:9063] -synonym: "Ritter disease" EXACT [DOID:9063, MONDO:0005948] -synonym: "Ritter's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Ritter disease" EXACT [DOID:9063, icd11.foundation:1554593739, MONDO:0005948] +synonym: "Ritter's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:9063, ICD10CM:L00, MONDO:LexicalVariant] synonym: "scalded skin syndrome" EXACT [DOID:9063] synonym: "SSSS" EXACT ABBREVIATION [Orphanet:36236] -synonym: "staphylococcal scalded skin syndrome" EXACT [DOID:9063] +synonym: "staphylococcal scalded skin syndrome" EXACT [DOID:9063, ICD10CM:L00, icd11.foundation:1554593739, NCIT:C85077, Orphanet:36236] synonym: "toxic epidermal necrolysis, subcorneal type" EXACT [DOID:9063] xref: DOID:9063 {source="MONDO:equivalentTo", source="EFO:0007473"} xref: EFO:0007473 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -412094,9 +412175,9 @@ subset: ordo_disorder {source="Orphanet:36273"} subset: orphanet_rare {source="Orphanet:36273"} subset: rare synonym: "Borrmann gastric cancer type 4" EXACT [Orphanet:36273] -synonym: "leather-bottle stomach" EXACT [MONDO:0002839] -synonym: "linitis plastica" EXACT [DOID:4023] -synonym: "linitis plastica (morphologic abnormality)" EXACT [DOID:4023] +synonym: "leather-bottle stomach" EXACT [DOID:4023, MONDO:0002839] +synonym: "linitis plastica" EXACT [DOID:4023, NCIT:C3190] +synonym: "linitis plastica (morphologic abnormality)" EXACT [] synonym: "linitis plastica of the stomach" EXACT [Orphanet:36273] xref: DOID:4023 {source="MONDO:equivalentTo"} xref: GARD:18822 {source="MONDO:GARD"} @@ -412134,7 +412215,7 @@ def: "OBSOLETE. Aberrant chromosomes with no ends, i.e., circular." [MESH:D01230 comment: Reason: grouping class. This term is from orphanet and refers specifically to autosomal chromosome. Consider MONDO:0700091, referring to both autosomal and gonosomal chromosomes. Term to consider: MONDO:0700091 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:363203"} -synonym: "supernumerary circular chromosome" BROAD [NCIT:C3360] +synonym: "supernumerary circular chromosome" BROAD [] xref: ICD10CM:Q93.2 {source="Orphanet:363203", source="Orphanet:363203/attributed", source="Orphanet:363203/ntbt"} xref: MESH:D012303 xref: NCIT:C3360 @@ -412148,7 +412229,7 @@ consider: MONDO:0700091 id: MONDO:0018187 name: obsolete hereditary syndromic Pierre Robin syndrome subset: ordo_group_of_disorders {source="Orphanet:363294"} -synonym: "genetic syndromic Pierre Robin syndrome" EXACT [Orphanet:363294] +synonym: "genetic syndromic Pierre Robin syndrome" EXACT [] xref: Orphanet:363294 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015501 {source="Orphanet:363294", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndrome or malformation associated with head and neck malformations property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -412162,8 +412243,8 @@ id: MONDO:0018188 name: obsolete hereditary intestinal polyposis subset: ordo_group_of_disorders {source="Orphanet:363314"} subset: otar {source="MONDO:OTAR"} -synonym: "familial intestinal polyposis" EXACT [Orphanet:363314] -synonym: "genetic intestinal polyposis" EXACT [Orphanet:363314] +synonym: "familial intestinal polyposis" EXACT [] +synonym: "genetic intestinal polyposis" EXACT [] xref: ICD10CM:D12.6 {source="Orphanet:363314", source="Orphanet:363314/attributed", source="Orphanet:363314/ntbt"} xref: Orphanet:363314 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -412201,7 +412282,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lower extremity-predominant autosomal dominant proximal spinal muscular atrophy" EXACT [Orphanet:363447] synonym: "SMALED" EXACT ABBREVIATION [Orphanet:363447] -synonym: "spinal muscular atrophy, lower extremity-predominant" RELATED [OMIMPS:158600] +synonym: "spinal muscular atrophy, lower extremity-predominant" RELATED [] xref: DOID:0070348 {source="MONDO:equivalentTo"} xref: GARD:17559 {source="MONDO:GARD"} xref: ICD10CM:G12.1 {source="Orphanet:363447", source="Orphanet:363447/attributed", source="Orphanet:363447/ntbt"} @@ -412219,7 +412300,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018191 name: obsolete tumor of testis and paratestis subset: ordo_group_of_disorders {source="Orphanet:363472"} -synonym: "testicular and paratesticular tumor" EXACT [Orphanet:363472] +synonym: "testicular and paratesticular tumor" EXACT [] synonym: "testicular and paratesticular tumour" EXACT OMO:0003005 [] xref: Orphanet:363472 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -412235,7 +412316,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:363478"} subset: orphanet_rare {source="Orphanet:363478"} subset: rare -synonym: "adenocarcinoma of paratestis" EXACT [Orphanet:363478] +synonym: "adenocarcinoma of paratestis" EXACT [] synonym: "adenocarcinoma of the paratestis" EXACT [Orphanet:363478] xref: GARD:21550 {source="MONDO:GARD"} xref: ICD10CM:C63.0 {source="Orphanet:363478", source="Orphanet:363478/btnt"} @@ -412261,7 +412342,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "teratoma of testis" EXACT [NCIT:C3877] synonym: "teratoma of the testis" EXACT [NCIT:C3877, Orphanet:363483] -synonym: "testicular teratoma" EXACT [MONDO:ambiguous] +synonym: "testicular teratoma" EXACT [MONDO:ambiguous, NCIT:C3877, Orphanet:363483] synonym: "testicular teratoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: EFO:1000573 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:17560 {source="MONDO:GARD"} @@ -412347,7 +412428,8 @@ subset: orphanet_rare {source="Orphanet:363558"} subset: rare synonym: "De novo cryptogenic refractory multifocal febrile status epilepticus" RELATED [GARD:0012244] synonym: "New onset refractory status epilepticus" RELATED [GARD:0012244] -synonym: "Norse" EXACT [Orphanet:363558] +synonym: "NORSE" EXACT ABBREVIATION [Orphanet:363558] +synonym: "Norse" EXACT [] xref: GARD:12244 {source="MONDO:GARD"} xref: MEDGEN:1657271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:363558 {source="MONDO:equivalentTo"} @@ -412372,11 +412454,11 @@ subset: gard_rare {source="GARD:9325", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:363579"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "extragonadal GCT, NOS" RELATED EXCLUDE [NCIT:C3918] +synonym: "extragonadal GCT, NOS" RELATED EXCLUDE [] synonym: "extragonadal germ cell neoplasm" EXACT [NCIT:C3918] synonym: "extragonadal germ cell neoplasms" EXACT [NCIT:C3918] -synonym: "extragonadal germ cell tumor" EXACT [NCIT:C3918] -synonym: "extragonadal germ cell tumors, NOS" RELATED EXCLUDE [NCIT:C3918] +synonym: "extragonadal germ cell tumor" EXACT [NCIT:C3918, Orphanet:363579] +synonym: "extragonadal germ cell tumors, NOS" RELATED EXCLUDE [] synonym: "neoplasm of extragonadal germ cell" EXACT [NCIT:C3918] synonym: "neoplasm of the extragonadal germ cell" EXACT [NCIT:C3918] synonym: "primary extragonadal germ cell tumor" EXACT [NCIT:C3918] @@ -412461,7 +412543,7 @@ subset: orphanet_rare {source="Orphanet:36367"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal deletion 1q" EXACT [Orphanet:36367] -synonym: "distal monosomy type 1q" EXACT [MONDORULE:4, Orphanet:36367] +synonym: "distal monosomy type 1q" EXACT [MONDORULE:4] synonym: "monosomy 1qter" EXACT [Orphanet:36367] synonym: "telomeric deletion 1q" EXACT [Orphanet:36367] xref: GARD:16640 {source="MONDO:GARD"} @@ -412582,7 +412664,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:363746"} subset: orphanet_rare {source="Orphanet:363746"} subset: rare -synonym: "Balint-Holmes syndrome" EXACT [Orphanet:363746] +synonym: "Balint-Holmes syndrome" EXACT [icd11.foundation:491228434, Orphanet:363746] synonym: "optic ataxia-gaze apraxia-simultanagnosia syndrome" EXACT [Orphanet:363746] synonym: "psychic paralysis of visual fixation" EXACT [https://orcid.org/0000-0002-6601-2165, PMID:13208876] xref: GARD:21558 {source="MONDO:GARD"} @@ -412629,7 +412711,7 @@ subset: ordo_disorder {source="Orphanet:36386"} subset: orphanet_rare {source="Orphanet:36386"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary sensory and autonomic neuropathy type I" EXACT [DOID:0070162, Orphanet:36386] +synonym: "hereditary sensory and autonomic neuropathy type I" EXACT [DOID:0070162, icd11.foundation:1989773046, Orphanet:36386] synonym: "hereditary sensory neuropathy type 1" RELATED [GARD:0006635] synonym: "Hereditary Sensory Neuropathy Type I" EXACT [NORD:1237] synonym: "HSAN 1" RELATED [GARD:0006635] @@ -412664,10 +412746,10 @@ subset: orphanet_rare {source="Orphanet:36387"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "epilepsy, generalized, with febrile seizures plus" EXACT [OMIMPS:604233] -synonym: "GEFS+" EXACT [DOID:0060170, Orphanet:36387] +synonym: "GEFS+" EXACT ABBREVIATION [DOID:0060170, NCIT:C122811, Orphanet:36387] synonym: "generalised epilepsy with febrile seizures-plus" EXACT OMO:0003005 [] -synonym: "generalized epilepsy with febrile seizures plus" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40005/, Orphanet:36387] -synonym: "genetic epilepsy with febrile seizures plus" EXACT [https://www.clinicalgenome.org/affiliation/40005/, https://www.epilepsydiagnosis.org/syndrome/fbp-overview.html, Orphanet:36387] +synonym: "generalized epilepsy with febrile seizures plus" EXACT CLINGEN_LABEL [DOID:0060170, https://www.clinicalgenome.org/affiliation/40005/, NCIT:C122811] +synonym: "genetic epilepsy with febrile seizures plus" EXACT [https://www.clinicalgenome.org/affiliation/40005/, https://www.epilepsydiagnosis.org/syndrome/fbp-overview.html] synonym: "genetic epilepsy with febrile seizures-plus" EXACT [https://www.clinicalgenome.org/affiliation/40005/, Orphanet:36387] xref: DOID:0060170 {source="MONDO:equivalentTo"} xref: GARD:18641 {source="MONDO:GARD"} @@ -412703,9 +412785,9 @@ subset: ordo_group_of_disorders {source="Orphanet:36388"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "nervous system paraneoplastic syndrome" EXACT [MONDO:patterns/location] -synonym: "paraneoplastic cerebellar degeneration" NARROW [Orphanet:36388] +synonym: "paraneoplastic cerebellar degeneration" NARROW [] synonym: "paraneoplastic syndrome of nervous system" EXACT [MONDO:design_pattern] -synonym: "PCD" EXACT ABBREVIATION [Orphanet:36388] +synonym: "PCD" EXACT ABBREVIATION [] synonym: "PNS" EXACT ABBREVIATION [Orphanet:36388] xref: GARD:7326 {source="MONDO:GARD"} xref: ICD9:331.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -412831,10 +412913,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:364033"} subset: orphanet_rare {source="Orphanet:364033"} subset: rare -synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" BROAD [DOID:0070324] +synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" BROAD [] synonym: "systemic EBV+ T-cell LPD of childhood" EXACT [Orphanet:364033] synonym: "systemic EBV-positive T-cell lymphoma of childhood" EXACT [DOID:0070324, NCIT:C80374] -synonym: "systemic EBV-positive T-cell lymphoproliferative disease of childhood" EXACT [Orphanet:364033] +synonym: "systemic EBV-positive T-cell lymphoproliferative disease of childhood" EXACT [NCIT:C80374, Orphanet:364033] synonym: "systemic EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [NCIT:C80374] xref: DOID:0070324 {source="MONDO:equivalentTo"} xref: GARD:21562 {source="MONDO:GARD"} @@ -412865,7 +412947,7 @@ synonym: "angiocentric cutaneous T-cell lymphoma of childhood" EXACT [Orphanet:3 synonym: "hV-like lymphoma" EXACT [NCIT:C45327] synonym: "HVLL" EXACT ABBREVIATION [Orphanet:364039] synonym: "hydroa vacciniforme-like cutaneous T-cell lymphoma" EXACT [NCIT:C45327] -synonym: "hydroa vacciniforme-like lymphoma" EXACT [NCIT:C45327] +synonym: "hydroa vacciniforme-like lymphoma" EXACT [NCIT:C45327, Orphanet:364039] synonym: "hydroa vacciniforme-like lymphoproliferative disorder" EXACT [NCIT:C45327] synonym: "hydroa-like cutaneous T-cell lymphoma" EXACT [Orphanet:364039] xref: GARD:21563 {source="MONDO:GARD"} @@ -412891,8 +412973,8 @@ subset: orphanet_rare {source="Orphanet:364043"} subset: rare synonym: "ALK+ large B-cell lymphoma" EXACT [Orphanet:364043] synonym: "ALK+ LBCL" EXACT [Orphanet:364043] -synonym: "ALK-DLBCL" EXACT [NCIT:C7225] -synonym: "ALK-positive large B-cell lymphoma" EXACT [NCIT:C7225] +synonym: "ALK-DLBCL" EXACT ABBREVIATION [NCIT:C7225] +synonym: "ALK-positive large B-cell lymphoma" EXACT [icd11.foundation:2077559619, NCIT:C7225, Orphanet:364043] synonym: "diffuse large B-cell lymphoma with expression of full-length ALK" EXACT [NCIT:C7225] synonym: "diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase" EXACT [NCIT:C7225] xref: GARD:21564 {source="MONDO:GARD"} @@ -412939,7 +413021,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:36412"} subset: orphanet_rare {source="Orphanet:36412"} subset: rare -synonym: "anti-C1q vasculitis" EXACT [Orphanet:36412] +synonym: "anti-C1q vasculitis" EXACT [icd11.foundation:629572966, Orphanet:36412] synonym: "Mac Duffie hypocomplementemic urticarial vasculitis" EXACT [Orphanet:36412] synonym: "Mac Duffie syndrome" EXACT [Orphanet:36412] synonym: "McDuffie hypocomplementemic urticarial vasculitis" EXACT [Orphanet:36412] @@ -412986,12 +413068,12 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:36426"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Dermatostomatitis, Stevens Johnson type" EXACT [Orphanet:36426] -synonym: "erythema multiforme major" RELATED [NCIT:C79484] -synonym: "hypersensitivity syndrome, carbamazepine-induced, susceptibility to" RELATED [OMIM:608579] -synonym: "severe cutaneous adverse reaction, susceptibility to" RELATED [OMIM:608579] +synonym: "erythema multiforme major" RELATED [] +synonym: "hypersensitivity syndrome, carbamazepine-induced, susceptibility to" RELATED [] +synonym: "severe cutaneous adverse reaction, susceptibility to" RELATED [] synonym: "Stevens Johnson syndrome" EXACT [NCIT:C79484] -synonym: "Stevens-Johnson syndrome, susceptibility to" RELATED [OMIM:608579] -synonym: "toxic Epidermal necrolysis, susceptibility to" RELATED [OMIM:608579] +synonym: "Stevens-Johnson syndrome, susceptibility to" RELATED [] +synonym: "toxic Epidermal necrolysis, susceptibility to" RELATED [] xref: DOID:0050426 {source="EFO:0004276", source="MONDO:equivalentTo"} xref: EFO:0004276 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7700 {source="MONDO:GARD"} @@ -413049,8 +413131,8 @@ id: MONDO:0018231 name: obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments comment: Reason: out of scope. Term to consider: MONDO:0018230. subset: ordo_group_of_disorders {source="Orphanet:364531"} -synonym: "primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [Orphanet:364531] -synonym: "primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [Orphanet:364531] +synonym: "primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [] +synonym: "primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" EXACT [] xref: Orphanet:364531 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -413062,8 +413144,8 @@ id: MONDO:0018232 name: obsolete primary bone dysplasia with micromelia comment: Reason: out of scope. Term to consider: MONDO:0018230. subset: ordo_group_of_disorders {source="Orphanet:364536"} -synonym: "primary osteodysplasia with micromelia" EXACT [Orphanet:364536] -synonym: "primary skeletal dysplasia with micromelia" EXACT [Orphanet:364536] +synonym: "primary osteodysplasia with micromelia" EXACT [] +synonym: "primary skeletal dysplasia with micromelia" EXACT [] xref: Orphanet:364536 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -413080,8 +413162,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:364541"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OPD spectrum disorder" EXACT [Orphanet:364541] -synonym: "OPSD" EXACT ABBREVIATION [Orphanet:364541] +synonym: "OPD spectrum disorder" EXACT [DOID:0111782, Orphanet:364541] +synonym: "OPSD" EXACT ABBREVIATION [DOID:0111782, Orphanet:364541] xref: DOID:0111782 {source="MONDO:equivalentTo"} xref: GARD:21570 {source="MONDO:GARD"} xref: MEDGEN:411701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -413101,7 +413183,7 @@ subset: obsoletion_candidate subset: ordo_group_of_disorders {source="Orphanet:364559"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dysostosis" EXACT [NCIT:C34560] +synonym: "dysostosis" EXACT [DOID:1934, NCIT:C34560, Orphanet:364559] xref: DOID:1934 {source="MONDO:equivalentTo"} xref: GARD:21571 {source="MONDO:GARD"} xref: ICD9:756.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -413225,7 +413307,7 @@ subset: ordo_disorder {source="Orphanet:36913"} subset: orphanet_rare {source="Orphanet:36913"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autoimmune hypoparathyroidism" EXACT [MONDO:ambiguous] +synonym: "autoimmune hypoparathyroidism" EXACT [icd11.foundation:1790437089, MONDO:ambiguous, Orphanet:36913] synonym: "autoimmune hypoparathyroidism (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:18824 {source="MONDO:GARD"} xref: HP:0011771 {source="MONDO:otherHierarchy"} @@ -413301,7 +413383,7 @@ id: MONDO:0018246 name: obsolete homozygous 2p21 microdeletion syndrome subset: ordo_group_of_disorders {source="Orphanet:369886"} subset: otar {source="MONDO:OTAR"} -synonym: "2p21 contiguous gene deletion syndrome" EXACT [Orphanet:369886] +synonym: "2p21 contiguous gene deletion syndrome" EXACT [] xref: ICD10CM:Q93.5 {source="Orphanet:369886/attributed", source="Orphanet:369886/ntbt", source="Orphanet:369886"} xref: Orphanet:369886 {source="MONDO:obsoleteEquivalent"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql @@ -413321,7 +413403,7 @@ subset: ordo_disorder {source="Orphanet:369942"} subset: orphanet_rare {source="Orphanet:369942"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CADDS" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, OMIM:300475] +synonym: "CADDS" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, Orphanet:369942] synonym: "contiguous ABCD1 DXS1357E deletion syndrome" EXACT [Orphanet:369942] synonym: "Zellweger-like contiguous gene deletion syndrome" EXACT [Orphanet:369942] xref: GARD:12472 {source="MONDO:GARD"} @@ -413396,20 +413478,20 @@ name: obsolete glycogen storage disease due to phosphorylase kinase deficiency def: "OBSOLETE. A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency." [Orphanet:370] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease' subset: ordo_group_of_disorders {source="Orphanet:370"} -synonym: "glycogen storage disease due to PhK deficiency" EXACT [Orphanet:370] +synonym: "glycogen storage disease due to PhK deficiency" EXACT [] synonym: "glycogen storage disease IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] -synonym: "glycogen storage disease type 9" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370] -synonym: "glycogen storage disease type IX" EXACT [DOID:0050594, https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDORULE:3, Orphanet:370] -synonym: "glycogenosis due to phosphorylase kinase deficiency" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370] -synonym: "glycogenosis type 9" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370] -synonym: "glycogenosis type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, Orphanet:370] -synonym: "GSD due to phosphorylase kinase deficiency" EXACT [Orphanet:370] +synonym: "glycogen storage disease type 9" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] +synonym: "glycogen storage disease type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, MONDORULE:3] +synonym: "glycogenosis due to phosphorylase kinase deficiency" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] +synonym: "glycogenosis type 9" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] +synonym: "glycogenosis type IX" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] +synonym: "GSD due to phosphorylase kinase deficiency" EXACT [] synonym: "GSD IX" EXACT [https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-ix, https://www.ncbi.nlm.nih.gov/books/NBK55061/] -synonym: "GSD type 9" EXACT [Orphanet:370] -synonym: "GSD type IX" EXACT [Orphanet:370] +synonym: "GSD type 9" EXACT [] +synonym: "GSD type IX" EXACT [] synonym: "GSDIX" EXACT ABBREVIATION [https://www.ncbi.nlm.nih.gov/books/NBK55061/] -synonym: "gycogenosis due to PhK deficiency" EXACT [Orphanet:370] -synonym: "phosphorylase kinase deficiency" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/, NCIT:C122662] +synonym: "gycogenosis due to PhK deficiency" EXACT [] +synonym: "phosphorylase kinase deficiency" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK55061/] xref: DOID:0050594 {source="MONDO:obsoleteEquivalent"} xref: ICD10CM:E74.0 {source="Orphanet:370/inclusion", source="Orphanet:370", source="Orphanet:370/ntbt"} xref: MESH:C580130 {source="MONDO:obsoleteEquivalent"} @@ -413596,9 +413678,9 @@ id: MONDO:0018262 name: obsolete fetal anticonvulsant syndrome subset: ordo_group_of_disorders {source="Orphanet:370068"} subset: otar {source="MONDO:OTAR"} -synonym: "FACS" EXACT ABBREVIATION [Orphanet:370068] -synonym: "fetal AEDS" EXACT [Orphanet:370068] -synonym: "fetal antiepileptic drug syndrome" EXACT [Orphanet:370068] +synonym: "FACS" EXACT ABBREVIATION [] +synonym: "fetal AEDS" EXACT [] +synonym: "fetal antiepileptic drug syndrome" EXACT [] synonym: "foetal AEDS" EXACT OMO:0003005 [] synonym: "foetal antiepileptic drug syndrome" EXACT OMO:0003005 [] xref: ICD10CM:Q86.8 {source="Orphanet:370068", source="Orphanet:370068/ntbt"} @@ -413637,9 +413719,9 @@ subset: ordo_disorder {source="Orphanet:370097"} subset: orphanet_rare {source="Orphanet:370097"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "albinism, oculocutaneous, type VI" RELATED [OMIM:113750] +synonym: "albinism, oculocutaneous, type VI" RELATED [] synonym: "OCA6" EXACT ABBREVIATION [OMIM:113750, Orphanet:370097] -synonym: "skin/hair/eye pigmentation 4, fair/dark skin" RELATED [OMIM:113750, OMIM:genemap2] +synonym: "skin/hair/eye pigmentation 4, fair/dark skin" RELATED [] xref: DOID:0080614 {source="MONDO:equivalentTo"} xref: GARD:17599 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="Orphanet:370097/attributed", source="Orphanet:370097/ntbt", source="Orphanet:370097"} @@ -413745,17 +413827,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:370334"} subset: orphanet_rare {source="Orphanet:370334"} subset: rare -synonym: "EOE" EXACT ABBREVIATION [NCIT:C7135, Orphanet:370334] +synonym: "EOE" EXACT ABBREVIATION [Orphanet:370334] synonym: "Extra-osseous Ewing's sarcoma" EXACT [NCIT:C7135] synonym: "extraosseous Ewing sarcoma" EXACT [DOID:4232, NCIT:C7135, Orphanet:370334] synonym: "extraosseous Ewing tumor" EXACT [Orphanet:370334] synonym: "extraosseous Ewing tumour" EXACT OMO:0003005 [] -synonym: "extraosseous Ewing's sarcoma" EXACT [MONDO:0002925, NCIT:C7135] -synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [DOID:4232] +synonym: "extraosseous Ewing's sarcoma" EXACT [DOID:4232, MONDO:0002925, NCIT:C7135] +synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" RELATED EXCLUDE [] synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumour" RELATED OMO:0003005 [] synonym: "extraosseous Ewing's tumor" EXACT [NCIT:C7135] synonym: "extraosseous Ewing's tumour" EXACT OMO:0003005 [] -synonym: "extraskeletal Ewing sarcoma" EXACT [NCIT:C7135] +synonym: "extraskeletal Ewing sarcoma" EXACT [NCIT:C7135, Orphanet:370334] synonym: "extraskeletal Ewing tumor" EXACT [Orphanet:370334] synonym: "extraskeletal Ewing tumour" EXACT OMO:0003005 [] synonym: "extraskeletal Ewing's sarcoma" EXACT [NCIT:C7135] @@ -413785,11 +413867,11 @@ subset: rare synonym: "peripheral neuroectodermal neoplasm" EXACT [NCIT:C9341] synonym: "peripheral neuroectodermal tumor" EXACT [NCIT:C9341] synonym: "peripheral neuroectodermal tumour" EXACT OMO:0003005 [] -synonym: "peripheral neuroepithelioma" EXACT [NCIT:C9341] +synonym: "peripheral neuroepithelioma" EXACT [NCIT:C9341, Orphanet:370348] synonym: "peripheral PNET" EXACT [NCIT:C9341, Orphanet:370348] synonym: "peripheral primitive neuroectodermal neoplasm" EXACT [NCIT:C9341] -synonym: "peripheral primitive neuroectodermal tumor" EXACT [NCIT:C9341] -synonym: "PPNET" EXACT ABBREVIATION [Orphanet:370348] +synonym: "peripheral primitive neuroectodermal tumor" EXACT [NCIT:C9341, Orphanet:370348] +synonym: "PPNET" EXACT ABBREVIATION [NCIT:C9341, Orphanet:370348] synonym: "pPNET" EXACT [NCIT:C9341] xref: GARD:17601 {source="MONDO:GARD"} xref: ICD10CM:C71.9 {source="Orphanet:370348/ntbt", source="Orphanet:370348"} @@ -413824,7 +413906,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation" EXACT [MEDGEN:C4750849] synonym: "XYLT1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] -synonym: "XYLT18-CDG" EXACT ABBREVIATION [Orphanet:356961] +synonym: "XYLT18-CDG" EXACT ABBREVIATION [] xref: GARD:21599 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:370930/attributed", source="Orphanet:370930/ntbt", source="Orphanet:370930"} xref: MEDGEN:1659170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -413850,13 +413932,13 @@ subset: rare synonym: "Amish infantile epilepsy syndrome" EXACT [MONDO:0012189, OMIM:609056] synonym: "disorder of lactosylceramide alpha-2,3-sialyltransferase activity" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "epilepsy syndrome, infantile-onset symptomatic" EXACT [OMIM:609056] -synonym: "GM3 synthase deficiency" EXACT CLINGEN_LABEL [] +synonym: "GM3 synthase deficiency" EXACT CLINGEN_LABEL [OMIM:609056, Orphanet:370933] synonym: "infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness" EXACT [GARD:0012059] -synonym: "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome" EXACT [Orphanet:171714] +synonym: "infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome" EXACT [] synonym: "lactosylceramide alpha-2,3-sialyltransferase activity disease" EXACT [MONDO:design_pattern] synonym: "salt & pepper syndrome" EXACT [DOID:0060470, MONDO:0018275] synonym: "salt and pepper developmental regression syndrome" EXACT [OMIM:609056] -synonym: "salt and pepper mental retardation syndrome" RELATED DEPRECATED [OMIM:609056] +synonym: "salt and pepper mental retardation syndrome" RELATED DEPRECATED [] synonym: "salt-and-pepper syndrome" EXACT [DOID:0060470] synonym: "SPDRS" EXACT ABBREVIATION [OMIM:609056] synonym: "ST3GAL5-CDG" EXACT [Orphanet:370933] @@ -413901,9 +413983,9 @@ subset: gard_rare {source="GARD:12584", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:370953"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CMD due to dystroglycanopathy" EXACT [DOID:0050588, Orphanet:370953] -synonym: "congenital muscular dystrophy due to dystroglycanopathy" RELATED [Orphanet:370953] -synonym: "muscular dystrophy-dystroglycanopathy" EXACT CLINGEN_LABEL [] +synonym: "CMD due to dystroglycanopathy" EXACT [Orphanet:370953] +synonym: "congenital muscular dystrophy due to dystroglycanopathy" RELATED [] +synonym: "muscular dystrophy-dystroglycanopathy" EXACT CLINGEN_LABEL [DOID:0112374] xref: DOID:0112374 {source="MONDO:equivalentTo"} xref: GARD:12584 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="DOID:0050588", source="Orphanet:370953/attributed", source="Orphanet:370953/ntbt", source="Orphanet:370953"} @@ -413918,8 +414000,8 @@ id: MONDO:0018277 name: obsolete congenital muscular dystrophy with cerebellar involvement subset: ordo_disorder {source="Orphanet:370959"} subset: otar {source="MONDO:OTAR"} -synonym: "CMD with cerebellar involvement" EXACT [Orphanet:370959] -synonym: "CMD-CRB" EXACT [Orphanet:370959] +synonym: "CMD with cerebellar involvement" EXACT [] +synonym: "CMD-CRB" EXACT [] xref: ICD10CM:G71.2 {source="Orphanet:370959", source="Orphanet:370959/attributed", source="Orphanet:370959/ntbt"} xref: Orphanet:370959 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -413941,7 +414023,7 @@ subset: orphanet_rare {source="Orphanet:370968"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CMD with intellectual disability" EXACT [Orphanet:370968] -synonym: "CMD-MR" EXACT [Orphanet:370968] +synonym: "CMD-MR" EXACT ABBREVIATION [Orphanet:370968] xref: GARD:17606 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:370968", source="Orphanet:370968/attributed", source="Orphanet:370968/ntbt"} xref: MEDGEN:1683413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -414030,8 +414112,8 @@ id: MONDO:0018283 name: obsolete primary qualitative or quantitative defects of alpha-dystroglycan subset: ordo_group_of_disorders {source="Orphanet:371040"} subset: otar {source="MONDO:OTAR"} -synonym: "primary alpha-dystroglycanopathy" EXACT [Orphanet:371040] -synonym: "primary dystroglycanopathy" EXACT [Orphanet:371040] +synonym: "primary alpha-dystroglycanopathy" EXACT [] +synonym: "primary dystroglycanopathy" EXACT [] xref: ICD10CM:G71.2 {source="Orphanet:371040", source="Orphanet:371040/attributed", source="Orphanet:371040/ntbt"} xref: Orphanet:371040 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -414044,7 +414126,7 @@ id: MONDO:0018284 name: obsolete congenital disorder of glycosylation with neurological involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371047"} -synonym: "CDG with neurological involvement" EXACT [Orphanet:371047] +synonym: "CDG with neurological involvement" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371047", source="Orphanet:371047/attributed", source="Orphanet:371047/ntbt"} xref: Orphanet:371047 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414057,7 +414139,7 @@ consider: MONDO:0015286 id: MONDO:0018285 name: obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature subset: disease_grouping -synonym: "X-linked CDG with intellectual disability as a major feature" EXACT [Orphanet:371054] +synonym: "X-linked CDG with intellectual disability as a major feature" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371054/attributed", source="Orphanet:371054/ntbt", source="Orphanet:371054"} xref: Orphanet:371054 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 @@ -414069,7 +414151,7 @@ is_obsolete: true id: MONDO:0018286 name: obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature subset: disease_grouping -synonym: "non-X-linked CDG with intellectual disability as a major feature" EXACT [Orphanet:371064] +synonym: "non-X-linked CDG with intellectual disability as a major feature" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371064", source="Orphanet:371064/attributed", source="Orphanet:371064/ntbt"} xref: Orphanet:371064 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 @@ -414082,7 +414164,7 @@ id: MONDO:0018287 name: obsolete congenital disorder of glycosylation with epilepsy as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371071"} -synonym: "CDG with epilepsy as a major feature" EXACT [Orphanet:371071] +synonym: "CDG with epilepsy as a major feature" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371071/attributed", source="Orphanet:371071/ntbt", source="Orphanet:371071"} xref: Orphanet:371071 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414095,7 +414177,7 @@ id: MONDO:0018288 name: obsolete congenital disorder of glycosylation with hepatic involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371157"} -synonym: "CDG with hepatic involvement" EXACT [Orphanet:371157] +synonym: "CDG with hepatic involvement" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371157", source="Orphanet:371157/attributed", source="Orphanet:371157/ntbt"} xref: Orphanet:371157 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414109,7 +414191,7 @@ id: MONDO:0018289 name: obsolete congenital disorder of glycosylation with dilated cardiomyopathy comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371176"} -synonym: "CDG with dilated cardiomyopathy" EXACT [Orphanet:371176] +synonym: "CDG with dilated cardiomyopathy" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371176/attributed", source="Orphanet:371176/ntbt", source="Orphanet:371176"} xref: Orphanet:371176 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414123,7 +414205,7 @@ id: MONDO:0018290 name: obsolete congenital disorder of glycosylation with cardiac malformation as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371183"} -synonym: "CDG with cardiac malformation as a major feature" EXACT [Orphanet:371183] +synonym: "CDG with cardiac malformation as a major feature" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371183", source="Orphanet:371183/attributed", source="Orphanet:371183/ntbt"} xref: Orphanet:371183 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414136,7 +414218,7 @@ id: MONDO:0018291 name: obsolete congenital disorder of glycosylation with intestinal involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371188"} -synonym: "CDG with intestinal involvement" EXACT [Orphanet:371188] +synonym: "CDG with intestinal involvement" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371188", source="Orphanet:371188/attributed", source="Orphanet:371188/ntbt"} xref: Orphanet:371188 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414149,7 +414231,7 @@ consider: MONDO:0015286 id: MONDO:0018292 name: obsolete congenital disorder of glycosylation-related bone disorder subset: ordo_group_of_disorders {source="Orphanet:371195"} -synonym: "CDG-related bone disorder" EXACT [Orphanet:371195] +synonym: "CDG-related bone disorder" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371195/attributed", source="Orphanet:371195/ntbt", source="Orphanet:371195"} xref: Orphanet:371195 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -414166,7 +414248,7 @@ id: MONDO:0018293 name: obsolete congenital disorder of glycosylation with skin involvement comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371200"} -synonym: "CDG with skin involvement" EXACT [Orphanet:371200] +synonym: "CDG with skin involvement" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371200", source="Orphanet:371200/attributed", source="Orphanet:371200/ntbt"} xref: Orphanet:371200 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414180,7 +414262,7 @@ id: MONDO:0018294 name: obsolete congenital disorder of glycosylation with nephropathy as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371207"} -synonym: "CDG with nephropathy as a major feature" EXACT [Orphanet:371207] +synonym: "CDG with nephropathy as a major feature" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371207/attributed", source="Orphanet:371207/ntbt", source="Orphanet:371207"} xref: Orphanet:371207 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414193,7 +414275,7 @@ id: MONDO:0018295 name: obsolete congenital disorder of glycosylation with deafness as a major feature subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:371212"} -synonym: "CDG with deafness as a major feature" EXACT [Orphanet:371212] +synonym: "CDG with deafness as a major feature" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371212", source="Orphanet:371212/attributed", source="Orphanet:371212/ntbt"} xref: Orphanet:371212 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414206,7 +414288,7 @@ id: MONDO:0018296 name: obsolete congenital disorder of glycosylation with developmental anomaly comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: congenital disorder of glycosylation' subset: ordo_group_of_disorders {source="Orphanet:371235"} -synonym: "CDG with developmental anomaly" EXACT [Orphanet:371235] +synonym: "CDG with developmental anomaly" EXACT [] xref: ICD10CM:E77.8 {source="Orphanet:371235", source="Orphanet:371235/attributed", source="Orphanet:371235/ntbt"} xref: Orphanet:371235 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -414268,9 +414350,9 @@ subset: orphanet_rare {source="Orphanet:37202"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bladder pain syndrome" EXACT [Orphanet:37202] -synonym: "chronic interstitial cystitis" EXACT [MONDO:0006703] -synonym: "IC/BPS" EXACT [Orphanet:37202] -synonym: "IC/PBS" EXACT [Orphanet:37202] +synonym: "chronic interstitial cystitis" EXACT [DOID:1678, MONDO:0006703] +synonym: "IC/BPS" EXACT ABBREVIATION [Orphanet:37202] +synonym: "IC/PBS" EXACT ABBREVIATION [Orphanet:37202] synonym: "interstitial cystitis, chronic" EXACT [MONDO:patterns/chronic] synonym: "interstitial cystitis/bladder pain syndrome" EXACT [Orphanet:37202] synonym: "interstitial cystitis/painful bladder syndrome" EXACT [Orphanet:37202] @@ -414368,7 +414450,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bridges-Good syndrome" EXACT [DOID:3265] synonym: "CGD" EXACT ABBREVIATION [DOID:3265, NCIT:C26788, Orphanet:379] -synonym: "chronic septic granulomatosis" EXACT [Orphanet:379] +synonym: "chronic septic granulomatosis" EXACT [icd11.foundation:1329764681, Orphanet:379] synonym: "congenital dysphagocytosis" EXACT [DOID:3265] synonym: "granulomatous disease, chronic" RELATED [GARD:0006100] synonym: "Quie syndrome" EXACT [DOID:3265] @@ -414413,13 +414495,13 @@ subset: ordo_disorder {source="Orphanet:381"} subset: orphanet_rare {source="Orphanet:381"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ChC)diak-Higashi-like syndrome" EXACT [Orphanet:381] -synonym: "Chédiak-Higashi-like syndrome" EXACT [DOID:0060831] -synonym: "Ch��diak-Higashi-like syndrome" EXACT [DOID:0060831] +synonym: "ChC)diak-Higashi-like syndrome" EXACT [] +synonym: "Chédiak-Higashi-like syndrome" EXACT [Orphanet:381] +synonym: "Ch��diak-Higashi-like syndrome" EXACT [] synonym: "Griscelli disease" RELATED [GARD:0010913] -synonym: "Griscelli-PruniC)ras syndrome" EXACT [Orphanet:381] -synonym: "Griscelli-Pruniéras syndrome" EXACT [DOID:0060831] -synonym: "Griscelli-Pruni��ras syndrome" EXACT [DOID:0060831] +synonym: "Griscelli-PruniC)ras syndrome" EXACT [] +synonym: "Griscelli-Pruniéras syndrome" EXACT [Orphanet:381] +synonym: "Griscelli-Pruni��ras syndrome" EXACT [] synonym: "partial albinism-immunodeficiency syndrome" EXACT [DOID:0060831, Orphanet:381] xref: DOID:0060831 {source="MONDO:equivalentTo"} xref: GARD:10913 {source="MONDO:GARD"} @@ -414447,7 +414529,7 @@ subset: ordo_group_of_disorders {source="Orphanet:385"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "NBIA" EXACT ABBREVIATION [DOID:0110734, Orphanet:385] -synonym: "neurodegeneration with brain iron accumulation" EXACT CLINGEN_LABEL [] +synonym: "neurodegeneration with brain iron accumulation" EXACT CLINGEN_LABEL [DOID:0110734, icd11.foundation:440483530, OMIMPS:234200, Orphanet:385] xref: DOID:0110734 {source="MONDO:equivalentTo"} xref: GARD:11899 {source="MONDO:GARD"} xref: ICD10CM:G23.0 {source="DOID:0110734", source="Orphanet:385/attributed", source="Orphanet:385/ntbt", source="Orphanet:385"} @@ -414478,7 +414560,7 @@ subset: ordo_disorder {source="Orphanet:386"} subset: orphanet_rare {source="Orphanet:386"} subset: rare synonym: "biliary hamartoma" EXACT [Orphanet:386] -synonym: "hepatic cystic hamartoma" RELATED [Orphanet:386] +synonym: "hepatic cystic hamartoma" RELATED [] synonym: "hepatic mesenchymal hamartoma" EXACT [NCIT:C5751] synonym: "liver mesenchymal hamartoma" EXACT [MONDO:patterns/location, NCIT:C5751] synonym: "liver MH" EXACT [NCIT:C5751] @@ -414510,16 +414592,16 @@ subset: ordo_disorder {source="Orphanet:388"} subset: orphanet_rare {source="Orphanet:388"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aganglionic megacolon" EXACT [DOID:10487, NCIT:C34700, Orphanet:388] +synonym: "aganglionic megacolon" EXACT [DOID:10487, icd11.foundation:1772690306, NCIT:C34700, Orphanet:388] synonym: "congenital intestinal aganglionosis" EXACT [Orphanet:388] -synonym: "congenital megacolon" EXACT [DOID:10487] -synonym: "Hirschsprung disease" EXACT [DOID:10487] +synonym: "congenital megacolon" EXACT [DOID:10487, icd11.foundation:1772690306] +synonym: "Hirschsprung disease" EXACT [DOID:10487, icd11.foundation:1772690306, NCIT:C34700, OMIMPS:142623, Orphanet:388] synonym: "Hirschsprung disease susceptibility" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "Hirschsprung's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Hirschsprung's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:10487, MONDO:LexicalVariant, NCIT:C34700] synonym: "HSCR" EXACT ABBREVIATION [Orphanet:388] -synonym: "macrocolon" RELATED [DOID:10487] -synonym: "pelvirectal achalasia" EXACT [DOID:10487] -synonym: "total intestinal aganglionosis" NARROW EXCLUDE [DOID:10487] +synonym: "macrocolon" RELATED [] +synonym: "pelvirectal achalasia" EXACT [DOID:10487, icd11.foundation:1772690306] +synonym: "total intestinal aganglionosis" NARROW EXCLUDE [] xref: DOID:10487 {source="MONDO:equivalentTo"} xref: GARD:6660 {source="MONDO:GARD"} xref: ICD10CM:Q43.1 {source="Orphanet:388/specific", source="Orphanet:388/e", source="DOID:10487", source="Orphanet:388"} @@ -414555,16 +414637,16 @@ subset: ordo_disorder {source="Orphanet:389"} subset: orphanet_rare {source="Orphanet:389"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "histiocytosis X" EXACT [DOID:2571, NCIT:C3107, Orphanet:389] +synonym: "histiocytosis X" EXACT [DOID:2571, icd11.foundation:216625985, NCIT:C3107, Orphanet:389] synonym: "Langerhan's cell histiocytosis" EXACT [DOID:2571] synonym: "Langerhans cell granulomatosis" EXACT [DOID:2571, NCIT:C3107, Orphanet:389] -synonym: "Langerhans cell histiocytosis" EXACT [MONDO:0006263, NCIT:C3107, OMIM:604856] +synonym: "Langerhans cell histiocytosis" EXACT [icd11.foundation:216625985, MONDO:0006263, NCIT:C3107, OMIM:604856, Orphanet:389] synonym: "Langerhans cell histiocytosis, NOS" EXACT [NCIT:C3107] -synonym: "Langerhans cell histiocytosis, Not otherwise specified" EXACT [NCIT:C3107] -synonym: "Langerhans-cell histiocytosis" RELATED [DOID:2571] -synonym: "LCH" EXACT ABBREVIATION [NCIT:C3107] -synonym: "Lch" RELATED [OMIM:604856] -synonym: "letterer-Siwe disease" RELATED EXCLUDE [DOID:2571] +synonym: "Langerhans cell histiocytosis, Not otherwise specified" EXACT [] +synonym: "Langerhans-cell histiocytosis" RELATED [] +synonym: "LCH" EXACT ABBREVIATION [NCIT:C3107, OMIM:604856] +synonym: "Lch" RELATED [] +synonym: "letterer-Siwe disease" RELATED EXCLUDE [] synonym: "letterer-Siwe disease involving intra-abdominal lymph nodes" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving intrapelvic lymph nodes" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving intrathoracic lymph nodes" EXACT [DOID:2571] @@ -414672,7 +414754,7 @@ subset: ordo_disorder {source="Orphanet:390"} subset: orphanet_rare {source="Orphanet:390"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "darling disease" EXACT [Orphanet:390] +synonym: "darling disease" EXACT [icd11.foundation:1303003466, Orphanet:390] synonym: "Histoplasma caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Histoplasma disease or disorder" EXACT [] synonym: "Histoplasma infectious disease" EXACT [] @@ -414814,7 +414896,7 @@ subset: ordo_disorder {source="Orphanet:391384"} subset: orphanet_rare {source="Orphanet:391384"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FEPS" EXACT ABBREVIATION [Orphanet:391384] +synonym: "FEPS" EXACT ABBREVIATION [DOID:0111728, Orphanet:391384] xref: DOID:0111728 {source="MONDO:equivalentTo"} xref: GARD:12684 {source="MONDO:GARD"} xref: ICD10CM:M79.6 {source="Orphanet:391384", source="Orphanet:391384/attributed", source="Orphanet:391384/ntbt"} @@ -414963,7 +415045,7 @@ subset: gard_rare {source="GARD:21625", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:391504"} subset: rare -synonym: "neonatal myasthenia gravis" BROAD [Orphanet:391504] +synonym: "neonatal myasthenia gravis" BROAD [] synonym: "NMG" EXACT ABBREVIATION [Orphanet:391504] synonym: "transient neonatal acquired myasthenia" EXACT [Orphanet:391504] synonym: "transient neonatal autoimmune myasthenia gravis" EXACT [Orphanet:391504] @@ -414989,7 +415071,7 @@ subset: orphanet_rare {source="Orphanet:391651"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glomus neoplasm" EXACT [DOID:2431, NCIT:C3060] -synonym: "glomus tumor" EXACT [DOID:2431, NCIT:C3060] +synonym: "glomus tumor" EXACT [DOID:2431, NCIT:C3060, Orphanet:391651] xref: DOID:2431 {source="MONDO:equivalentTo"} xref: GARD:21626 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:391651", source="Orphanet:391651/ntbt"} @@ -415018,7 +415100,7 @@ subset: orphanet_rare {source="Orphanet:391665"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HoFH" EXACT [Orphanet:391665] -synonym: "homozygous familial hypercholesterolemia" EXACT CLINGEN_LABEL [] +synonym: "homozygous familial hypercholesterolemia" EXACT CLINGEN_LABEL [Orphanet:391665] xref: GARD:10416 {source="MONDO:GARD"} xref: ICD10CM:E78.0 {source="Orphanet:391665/attributed", source="Orphanet:391665/ntbt", source="Orphanet:391665"} xref: MEDGEN:575266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -415325,7 +415407,7 @@ subset: orphanet_rare {source="Orphanet:397922"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebro-cutaneous syndrome with iron overload" EXACT [Orphanet:397922] -synonym: "FCCS" EXACT ABBREVIATION [OMIM:301072] +synonym: "FCCS" EXACT ABBREVIATION [] xref: GARD:21637 {source="MONDO:GARD"} xref: ICD10CM:G23.0 {source="Orphanet:397922/attributed", source="Orphanet:397922/ntbt", source="Orphanet:397922"} xref: MEDGEN:1658844 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -415373,7 +415455,7 @@ synonym: "congenital disorder of glycosylation type 2 due to MAN1B1 deficiency" synonym: "congenital disorder of glycosylation type II due to MAN1B1 deficiency" EXACT [Orphanet:397941] synonym: "intellectual disability-truncal obesity syndrome" EXACT [Orphanet:397941] synonym: "MAN1B1-CDG" EXACT ABBREVIATION [Orphanet:397941] -synonym: "MAN1B1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [Orphanet:397941] +synonym: "MAN1B1-congenital disorder of glycosylation" EXACT CLINGEN_LABEL [] xref: GARD:12417 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:397941", source="Orphanet:397941/attributed", source="Orphanet:397941/ntbt"} xref: MEDGEN:1375785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -415418,14 +415500,14 @@ synonym: "epidermoid cell carcinoma of penis" EXACT [DOID:5518, NCIT:C7729] synonym: "epidermoid cell carcinoma of the penis" EXACT [NCIT:C7729] synonym: "penile epidermoid carcinoma" EXACT [NCIT:C7729] synonym: "penile epidermoid cell carcinoma" EXACT [NCIT:C7729] -synonym: "penile squamous car.(epidermoid)" EXACT [NCIT:C7729] -synonym: "penile squamous carcinoma (epidermoid)" EXACT [NCIT:C7729] +synonym: "penile squamous car.(epidermoid)" EXACT [] +synonym: "penile squamous carcinoma (epidermoid)" EXACT [] synonym: "penile squamous cell cancer" EXACT [NCIT:C7729] synonym: "penile squamous cell carcinoma" EXACT [NCIT:C7729, Orphanet:398058] -synonym: "penis squamous cell carcinoma" EXACT [MONDO:0003484, MONDO:patterns/location] +synonym: "penis squamous cell carcinoma" EXACT [DOID:5518, MONDO:0003484, MONDO:patterns/location] synonym: "PSCC" RELATED ABBREVIATION [ONCOTREE:PSCC] -synonym: "squamous cell carcinoma of penis" EXACT [DOID:5518, NCIT:C7729] -synonym: "squamous cell carcinoma of the penis" EXACT [NCIT:C7729] +synonym: "squamous cell carcinoma of penis" EXACT [icd11.foundation:186592209, NCIT:C7729] +synonym: "squamous cell carcinoma of the penis" EXACT [NCIT:C7729, Orphanet:398058] xref: DOID:5518 {source="MONDO:equivalentTo"} xref: GARD:21639 {source="MONDO:GARD"} xref: ICD10CM:C60.0 {source="Orphanet:398058", source="Orphanet:398058/ntbt"} @@ -415503,9 +415585,9 @@ subset: ordo_disorder {source="Orphanet:398079"} subset: orphanet_rare {source="Orphanet:398079"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Prader-Willi-like syndrome due to a point mutation" RELATED DEPRECATED [Orphanet:398079] -synonym: "PWS-like due to a point mutation" RELATED DEPRECATED [Orphanet:398079] -synonym: "PWS-like due to point mutation" RELATED DEPRECATED [Orphanet:398079] +synonym: "Prader-Willi-like syndrome due to a point mutation" RELATED DEPRECATED [] +synonym: "PWS-like due to a point mutation" RELATED DEPRECATED [] +synonym: "PWS-like due to point mutation" RELATED DEPRECATED [] synonym: "SIM1-related PWLS" EXACT [Orphanet:398079] xref: GARD:21642 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:398079/attributed", source="Orphanet:398079/ntbt", source="Orphanet:398079"} @@ -415693,7 +415775,7 @@ synonym: "ovarian epithelial cancer" EXACT [Orphanet:398934] synonym: "ovarian epithelial tumor, malignant" EXACT [MONDO:patterns/malignant] synonym: "ovarian malignant epithelial tumor" EXACT [Orphanet:398934] synonym: "ovarian malignant epithelial tumour" EXACT OMO:0003005 [] -synonym: "ovarian stromal cancer" EXACT [NCIT:C40026] +synonym: "ovarian stromal cancer" EXACT [] xref: DOID:2151 {source="MONDO:equivalentTo"} xref: GARD:9362 {source="MONDO:GARD"} xref: MEDGEN:577291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -415745,8 +415827,8 @@ name: primary peritoneal serous/papillary carcinoma subset: gard_rare {source="GARD:21653", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "peritoneal serous papillary adenocarcinoma" EXACT [MONDO:0003817] -synonym: "PPSPC" EXACT ABBREVIATION [Orphanet:398980] +synonym: "peritoneal serous papillary adenocarcinoma" EXACT [DOID:6228, MONDO:0003817] +synonym: "PPSPC" EXACT ABBREVIATION [] synonym: "primary peritoneal serous papillary adenocarcinoma" EXACT [NCIT:C7695] synonym: "primary peritoneal serous papillary carcinoma" EXACT [NCIT:C7695] synonym: "primary serous papillary carcinoma of peritoneum" EXACT [DOID:6228, NCIT:C7695] @@ -415778,14 +415860,14 @@ synonym: "immature germ cell teratoma of ovary" EXACT [NCIT:C8111] synonym: "immature germ cell teratoma of the ovary" EXACT [NCIT:C8111] synonym: "immature ovarian teratoma" EXACT [NCIT:C8111] synonym: "immature teratoma" RELATED [ONCOTREE:OIMT] -synonym: "immature teratoma of ovary" EXACT [MONDO:0003855, NCIT:C8111, Orphanet:398987] +synonym: "immature teratoma of ovary" EXACT [DOID:6331, MONDO:0003855, NCIT:C8111, Orphanet:398987] synonym: "immature teratoma of the ovary" EXACT [NCIT:C8111] -synonym: "malignant germ cell teratoma of ovary" EXACT [NCIT:C8111] -synonym: "malignant germ cell teratoma of the ovary" EXACT [NCIT:C8111] -synonym: "malignant ovarian germ cell teratoma" EXACT [NCIT:C8111] -synonym: "malignant ovarian teratoma" EXACT [NCIT:C8111] -synonym: "malignant teratoma of ovary" EXACT [DOID:6331, NCIT:C8111] -synonym: "malignant teratoma of the ovary" EXACT [NCIT:C8111] +synonym: "malignant germ cell teratoma of ovary" EXACT [] +synonym: "malignant germ cell teratoma of the ovary" EXACT [] +synonym: "malignant ovarian germ cell teratoma" EXACT [] +synonym: "malignant ovarian teratoma" EXACT [] +synonym: "malignant teratoma of ovary" EXACT [DOID:6331, icd11.foundation:551209361, Orphanet:398987] +synonym: "malignant teratoma of the ovary" EXACT [] synonym: "ovarian germ cell immature teratoma" EXACT [NCIT:C8111] synonym: "ovarian immature germ cell teratoma" EXACT [NCIT:C8111] synonym: "ovarian immature teratoma" EXACT [NCIT:C8111, Orphanet:398987] @@ -415834,7 +415916,7 @@ subset: ordo_disorder {source="Orphanet:399103"} subset: orphanet_rare {source="Orphanet:399103"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "distal nebulin myopathy" RELATED [Orphanet:399103] +synonym: "distal nebulin myopathy" RELATED [] xref: GARD:21656 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:399103", source="Orphanet:399103/attributed", source="Orphanet:399103/ntbt"} xref: MEDGEN:1677937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -415862,7 +415944,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:399164"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "avascular necrosis of bone" EXACT [DOID:10159, NCIT:C34841] +synonym: "avascular necrosis of bone" EXACT [NCIT:C34841] synonym: "AVN" EXACT ABBREVIATION [Orphanet:399164] xref: GARD:21658 {source="MONDO:GARD"} xref: ICD10CM:M87.0 {source="Orphanet:399164/btnt", source="Orphanet:399164"} @@ -416004,11 +416086,11 @@ subset: ordo_group_of_disorders {source="Orphanet:399319"} subset: rare synonym: "apophysitis" EXACT [DOID:8125] synonym: "epiphyseal necrosis" EXACT [DOID:8125] -synonym: "epiphyseal necrosis, NOS" RELATED EXCLUDE [DOID:8125] +synonym: "epiphyseal necrosis, NOS" RELATED EXCLUDE [] synonym: "epiphysitis" EXACT [DOID:8125] -synonym: "osteochondritis" RELATED [DOID:8125] -synonym: "osteochondritis juvenilis" RELATED [DOID:8125] -synonym: "osteochondrosis not specified as adult or juvenile, of unspecified site" EXACT [DOID:8125] +synonym: "osteochondritis" RELATED [] +synonym: "osteochondritis juvenilis" RELATED [] +synonym: "osteochondrosis not specified as adult or juvenile, of unspecified site" EXACT [icd11.foundation:1446309782] xref: DOID:8125 {source="MONDO:equivalentTo"} xref: GARD:12704 {source="MONDO:GARD"} xref: ICD10CM:M42 {source="MONDO:equivalentTo"} @@ -416046,7 +416128,8 @@ synonym: "SCFE" EXACT ABBREVIATION [Orphanet:399329] synonym: "slipped capital femoral epiphysis" EXACT [Orphanet:399329] synonym: "slipped femoral capital epiphyses" EXACT [OMIM:182260] synonym: "slipped upper femoral epiphysis" EXACT [Orphanet:399329] -synonym: "SufE" EXACT [Orphanet:399329] +synonym: "SUFE" EXACT ABBREVIATION [Orphanet:399329] +synonym: "SufE" EXACT [] xref: GARD:21666 {source="MONDO:GARD"} xref: ICD10CM:M93.9 {source="Orphanet:399329", source="Orphanet:399329/ntbt"} xref: MESH:D060048 {source="MONDO:equivalentTo"} @@ -416110,8 +416193,8 @@ id: MONDO:0018386 name: obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399572"} -synonym: "rare male infertility due to gonadotropic axis disorder" EXACT [Orphanet:399572] -synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder" EXACT [Orphanet:399572] +synonym: "rare male infertility due to gonadotropic axis disorder" EXACT [] +synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder" EXACT [] xref: ICD10CM:N46 {source="Orphanet:399572/ntbt", source="Orphanet:399572"} xref: Orphanet:399572 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416148,7 +416231,7 @@ id: MONDO:0018389 name: obsolete male infertility due to gonadal dysgenesis or sperm disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399764"} -synonym: "Male infertility due to testicular dysgenesis or sperm disorder" EXACT [Orphanet:399764] +synonym: "Male infertility due to testicular dysgenesis or sperm disorder" EXACT [] xref: ICD10CM:N46 {source="Orphanet:399764/attributed", source="Orphanet:399764/ntbt", source="Orphanet:399764"} xref: Orphanet:399764 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416228,7 +416311,7 @@ id: MONDO:0018395 name: obsolete male infertility due to sperm motility disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399813"} -synonym: "Male infertility due to asthenozoospermia" EXACT [Orphanet:399813] +synonym: "Male infertility due to asthenozoospermia" EXACT [] xref: ICD10CM:N46 {source="Orphanet:399813", source="Orphanet:399813/attributed", source="Orphanet:399813/ntbt"} xref: Orphanet:399813 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416241,8 +416324,8 @@ id: MONDO:0018396 name: obsolete rare male fertility disorder with obstructive azoospermia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399824"} -synonym: "rare disorder due to impaired sperm transport" EXACT [Orphanet:399824] -synonym: "rare disorder with obstructive azoospermia" RELATED [Orphanet:399824] +synonym: "rare disorder due to impaired sperm transport" EXACT [] +synonym: "rare disorder with obstructive azoospermia" RELATED [] xref: Orphanet:399824 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -416254,8 +416337,8 @@ id: MONDO:0018397 name: obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399831"} -synonym: "rare female infertility due to gonadotropic axis disorder" EXACT [Orphanet:399831] -synonym: "rare female infertility due to hypothalamic-pituitary-ovarian axis disorder" EXACT [Orphanet:399831] +synonym: "rare female infertility due to gonadotropic axis disorder" EXACT [] +synonym: "rare female infertility due to hypothalamic-pituitary-ovarian axis disorder" EXACT [] xref: ICD10CM:N97.0 {source="Orphanet:399831/ntbt", source="Orphanet:399831"} xref: Orphanet:399831 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416268,7 +416351,7 @@ id: MONDO:0018398 name: obsolete female infertility due to a congenital hypogonadotropic hypogonadism comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' subset: ordo_group_of_disorders {source="Orphanet:399839"} -synonym: "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" EXACT [Orphanet:399846] +synonym: "rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism" EXACT [] xref: ICD10CM:N97.0 {source="Orphanet:399839/attributed", source="Orphanet:399839/ntbt", source="Orphanet:399839"} xref: Orphanet:399839 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416313,9 +416396,9 @@ id: MONDO:0018402 name: obsolete female infertility due to gonadal dysgenesis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' subset: ordo_group_of_disorders {source="Orphanet:399877"} -synonym: "female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877] -synonym: "rare female infertility due to gonadal dysgenesis" RELATED [Orphanet:399877] -synonym: "rare female infertility due to ovarian dysgenesis" EXACT [Orphanet:399877] +synonym: "female infertility due to ovarian dysgenesis" EXACT [] +synonym: "rare female infertility due to gonadal dysgenesis" RELATED [] +synonym: "rare female infertility due to ovarian dysgenesis" EXACT [] xref: ICD10CM:N97.0 {source="Orphanet:399877", source="Orphanet:399877/attributed", source="Orphanet:399877/ntbt"} xref: Orphanet:399877 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416328,7 +416411,7 @@ id: MONDO:0018403 name: obsolete female infertility due to an implantation defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' subset: ordo_group_of_disorders {source="Orphanet:399882"} -synonym: "rare female infertility due to an implantation defect" RELATED [Orphanet:399882] +synonym: "rare female infertility due to an implantation defect" RELATED [] xref: ICD10CM:N97.2 {source="Orphanet:399882", source="MONDO:relatedTo", source="Orphanet:399882/ntbt"} xref: Orphanet:399882 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416355,8 +416438,8 @@ def: "OBSOLETE. An instance of rare male infertility due to hypothalamic-pituita subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:399983"} synonym: "genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic] -synonym: "rare male infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:399983] -synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:399983] +synonym: "rare male infertility due to gonadotropic axis disorder of genetic origin" EXACT [] +synonym: "rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [] xref: ICD10CM:N46 {source="Orphanet:399983", source="Orphanet:399983/attributed", source="Orphanet:399983/ntbt"} xref: Orphanet:399983 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416381,7 +416464,7 @@ id: MONDO:0018407 name: obsolete male infertility due to obstructive azoospermia of genetic origin comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:399998"} -synonym: "Male infertility due to impaired sperm transport of genetic origin" EXACT [Orphanet:399998] +synonym: "Male infertility due to impaired sperm transport of genetic origin" EXACT [] xref: ICD10CM:N46 {source="Orphanet:399998", source="Orphanet:399998/attributed", source="Orphanet:399998/ntbt"} xref: Orphanet:399998 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416401,7 +416484,7 @@ synonym: "echinococcus granulosus" EXACT [DOID:1495] synonym: "Echinococcus granulosus infection" EXACT [DOID:1495] synonym: "Echinococcus granulosus infection of lung" EXACT [DOID:1495] synonym: "Echinococcus granulosus infection of thyroid" EXACT [DOID:1495] -synonym: "echinococcus granulosus infectious disease" RELATED EXCLUDE [DOID:1495] +synonym: "echinococcus granulosus infectious disease" RELATED EXCLUDE [] synonym: "Echinococcus granulosus infectious disease of liver" EXACT [DOID:1495] synonym: "echinococcus granulosus infectious disease of liver" EXACT [DOID:1495] synonym: "echinococcus granulosus infectious disease of thyroid" EXACT [DOID:1495] @@ -416446,7 +416529,7 @@ id: MONDO:0018409 name: obsolete rare genetic disorder with obstructive azoospermia subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:400003"} -synonym: "rare genetic disorder due to impaired sperm transport" EXACT [Orphanet:400003] +synonym: "rare genetic disorder due to impaired sperm transport" EXACT [] xref: Orphanet:400003 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -416470,8 +416553,8 @@ def: "OBSOLETE. An instance of rare female infertility due to hypothalamic-pitui subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:400011"} synonym: "genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder" EXACT [MONDO:patterns/genetic] -synonym: "rare female infertility due to gonadotropic axis disorder of genetic origin" EXACT [Orphanet:400011] -synonym: "rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [Orphanet:400011] +synonym: "rare female infertility due to gonadotropic axis disorder of genetic origin" EXACT [] +synonym: "rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin" EXACT [] xref: ICD10CM:N97.0 {source="Orphanet:400011/attributed", source="Orphanet:400011/ntbt", source="Orphanet:400011"} xref: Orphanet:400011 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -416619,7 +416702,7 @@ id: MONDO:0018420 name: autosomal recessive spastic paraplegia type 68 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "SPG68" EXACT ABBREVIATION [Orphanet:401825] +synonym: "SPG68" EXACT ABBREVIATION [] xref: ICD10CM:G11.4 {source="Orphanet:401825", source="Orphanet:401825/attributed", source="Orphanet:401825/ntbt"} xref: Orphanet:401825 {source="MONDO:equivalentObsolete"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease @@ -416710,7 +416793,7 @@ subset: rare synonym: "inborn error of lipoate biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn lipoate biosynthetic process disorder" EXACT [] synonym: "lipoate biosynthesis defect" EXACT [Orphanet:401854] -synonym: "lipoic acid biosynthesis defect" RELATED [Orphanet:401854] +synonym: "lipoic acid biosynthesis defect" RELATED [] synonym: "lipoic acid biosynthesis defects" RELATED [GARD:0012679] synonym: "rare inborn error of lipoate biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] xref: GARD:12679 {source="MONDO:GARD"} @@ -416919,9 +417002,9 @@ subset: ordo_disorder {source="Orphanet:402020"} subset: orphanet_rare {source="Orphanet:402020"} subset: rare synonym: "acute myeloid leukaemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" RELATED OMO:0003005 [] -synonym: "acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" RELATED [Orphanet:402020] -synonym: "AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" EXACT [Orphanet:402020] -synonym: "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" EXACT [Orphanet:402020] +synonym: "acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" RELATED [] +synonym: "AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)" EXACT [] +synonym: "AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)" EXACT [] xref: GARD:12759 {source="MONDO:GARD"} xref: ICD10CM:C92.0 {source="Orphanet:402020/ntbt", source="Orphanet:402020"} xref: MEDGEN:415269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -416978,7 +417061,7 @@ subset: ordo_group_of_disorders {source="Orphanet:402029"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "EGID" EXACT ABBREVIATION [Orphanet:402029] -synonym: "primary eosinophilic gastrointestinal disease" EXACT [PMID:22792476] +synonym: "primary eosinophilic gastrointestinal disease" EXACT [Orphanet:402029, PMID:22792476] xref: GARD:21714 {source="MONDO:GARD"} xref: ICD10CM:K52.8 {source="Orphanet:402029", source="Orphanet:402029/ntbt"} xref: MEDGEN:1826142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -417089,9 +417172,9 @@ id: MONDO:0018444 name: obsolete female infertility due to fertilization defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: female infertility' subset: ordo_group_of_disorders {source="Orphanet:404469"} -synonym: "female infertility due to fecundation defect" EXACT [Orphanet:404469] -synonym: "rare female infertility due to oocyte maturation" RELATED [Orphanet:404469] -synonym: "rare female infertility due to oocyte maturation defect" RELATED [Orphanet:404469] +synonym: "female infertility due to fecundation defect" EXACT [] +synonym: "rare female infertility due to oocyte maturation" RELATED [] +synonym: "rare female infertility due to oocyte maturation defect" RELATED [] xref: ICD10CM:N97.8 {source="Orphanet:404469", source="Orphanet:404469/attributed", source="Orphanet:404469/ntbt"} xref: Orphanet:404469 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -417113,7 +417196,7 @@ synonym: "global developmental delay, lung cysts, overgrowth, and wilms tumor" E synonym: "global developmental delay, lung cysts, overgrowth, and wilms tumour" EXACT OMO:0003005 [] synonym: "GLOW" EXACT ABBREVIATION [OMIM:618272] synonym: "glow syndrome" EXACT [OMIM:618272, Orphanet:404476] -synonym: "GLOW syndrome, somatic mosaic" EXACT [OMIM:618272, OMIM:genemap2] +synonym: "GLOW syndrome, somatic mosaic" EXACT [] xref: GARD:17676 {source="MONDO:GARD"} xref: ICD10CM:Q87.3 {source="Orphanet:404476/attributed", source="Orphanet:404476/ntbt", source="Orphanet:404476"} xref: MEDGEN:1648360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -417153,7 +417236,7 @@ subset: ordo_disorder {source="Orphanet:404507"} subset: orphanet_rare {source="Orphanet:404507"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Chondromyxoid fibroma" EXACT [NCIT:C3830] +synonym: "Chondromyxoid fibroma" EXACT [NCIT:C3830, Orphanet:404507] xref: EFO:0000332 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:21720 {source="MONDO:GARD"} xref: ICD10CM:D16.9 {source="Orphanet:404507", source="Orphanet:404507/ntbt"} @@ -417233,8 +417316,8 @@ def: "OBSOLETE. X-linked form of distal hereditary motor neuropathy." [MONDO:pat subset: ordo_group_of_disorders {source="Orphanet:404538"} subset: otar {source="MONDO:OTAR"} synonym: "distal hereditary motor neuropathy, X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "X-linked dHMN" EXACT [Orphanet:404538] -synonym: "X-linked distal spinal muscular atrophy" EXACT [Orphanet:404538] +synonym: "X-linked dHMN" EXACT [] +synonym: "X-linked distal spinal muscular atrophy" EXACT [] xref: ICD10CM:G12.2 {source="Orphanet:404538/attributed", source="Orphanet:404538/ntbt", source="Orphanet:404538"} xref: Orphanet:404538 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -417264,12 +417347,12 @@ synonym: "B-K mole syndrome" EXACT [Orphanet:404560] synonym: "familial atypical mole melanoma syndrome" EXACT [NCIT:C27264] synonym: "familial atypical mole syndrome" EXACT [Orphanet:404560] synonym: "familial atypical multiple mole melanoma-pancreatic carcinoma syndrome" EXACT [Orphanet:404560] -synonym: "familial Clark nevus syndrome" EXACT [Orphanet:404560] +synonym: "familial Clark nevus syndrome" EXACT [] synonym: "familial dysplastic nevus syndrome" EXACT [Orphanet:404560] synonym: "FAMM syndrome" EXACT [NCIT:C27264] synonym: "FAMM-PC syndrome" EXACT [Orphanet:404560] synonym: "FAMMM syndrome" EXACT [Orphanet:404560] -synonym: "melanoma-pancreatic cancer syndrome" BROAD [Orphanet:404560] +synonym: "melanoma-pancreatic cancer syndrome" BROAD [] xref: GARD:9281 {source="MONDO:GARD"} xref: ICD10CM:D22.9 {source="Orphanet:404560", source="Orphanet:404560/nd", source="Orphanet:404560/attributed"} xref: MEDGEN:389220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -417332,7 +417415,7 @@ id: MONDO:0018457 name: obsolete rare genetic bone development disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:404584"} -synonym: "rare genetic skeletal development disorder" EXACT [Orphanet:404584] +synonym: "rare genetic skeletal development disorder" EXACT [] xref: Orphanet:404584 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -417348,12 +417431,12 @@ subset: ordo_disorder {source="Orphanet:405"} subset: orphanet_rare {source="Orphanet:405"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial benign hypercalcemia" EXACT [DOID:0060699, Orphanet:405] +synonym: "familial benign hypercalcemia" EXACT [DOID:0060699, NCIT:C123262, Orphanet:405] synonym: "familial benign hypocalciuric hypercalcemia" EXACT [DOID:0060699, Orphanet:405] -synonym: "FBH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405] -synonym: "FBHH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405] -synonym: "FHH" RELATED ABBREVIATION [DOID:0060699, Orphanet:405] -synonym: "hypocalciuric hypercalcemia" RELATED [OMIMPS:145980] +synonym: "FBH" RELATED ABBREVIATION [] +synonym: "FBHH" RELATED ABBREVIATION [] +synonym: "FHH" RELATED ABBREVIATION [] +synonym: "hypocalciuric hypercalcemia" RELATED [] xref: DOID:0060699 {source="MONDO:equivalentTo"} xref: GARD:10828 {source="MONDO:GARD"} xref: ICD10CM:E83.5 {source="Orphanet:405/attributed", source="Orphanet:405/ntbt", source="Orphanet:405", source="DOID:0060699"} @@ -417499,7 +417582,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:411593"} subset: orphanet_rare {source="Orphanet:411593"} subset: rare -synonym: "Hirata disease" EXACT [Orphanet:411593] +synonym: "Hirata disease" EXACT [DOID:0040100, Orphanet:411593] synonym: "insulin autoimmune hypoglycemia" RELATED [GARD:0010808] xref: DOID:0040100 {source="MONDO:equivalentTo"} xref: GARD:10808 {source="MONDO:GARD"} @@ -417530,11 +417613,11 @@ subset: gard_rare {source="GARD:9755", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:411629"} subset: rare -synonym: "CTNS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:219800] -synonym: "cystinosin, defect of" RELATED [OMIM:219800] -synonym: "cystinosis, atypical nephropathic" RELATED [OMIM:219800] -synonym: "cystinosis, infantile nephropathic" EXACT [OMIM:219800] -synonym: "lysosomal cystine transport protein, defect of" RELATED [OMIM:219800] +synonym: "CTNS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "cystinosin, defect of" RELATED [] +synonym: "cystinosis, atypical nephropathic" RELATED [] +synonym: "cystinosis, infantile nephropathic" EXACT [] +synonym: "lysosomal cystine transport protein, defect of" RELATED [] synonym: "nephropathic infantile cystinosis" EXACT CLINGEN_LABEL [] xref: GARD:9755 {source="MONDO:GARD"} xref: ICD10EXP:E72.0+ {source="Orphanet:411629", source="Orphanet:411629/attributed", source="Orphanet:411629/ntbt"} @@ -417563,7 +417646,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:411696"} subset: orphanet_rare {source="Orphanet:411696"} subset: rare -synonym: "PPI-REE" EXACT [Orphanet:411696] +synonym: "PPI-REE" EXACT ABBREVIATION [Orphanet:411696] synonym: "PPI-responsive esophageal eosinophilia" EXACT [Orphanet:411696] synonym: "PPIRee" EXACT [Orphanet:411696] xref: GARD:21735 {source="MONDO:GARD"} @@ -417613,11 +417696,11 @@ synonym: "absent/underdeveloped kidney" EXACT [HP:0008678] synonym: "hereditary renal aplasia" EXACT [DOID:14766] synonym: "hereditary urogenital adysplasia" EXACT [DOID:14766] synonym: "renal adysplasia" EXACT [DOID:14766] -synonym: "renal agenesis" EXACT [MONDO:ambiguous] +synonym: "renal agenesis" EXACT [DOID:14766, icd11.foundation:683319223, MONDO:ambiguous, NCIT:C99041, Orphanet:411709] synonym: "renal agenesis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "renal agenesis/hypoplasia" EXACT [HP:0008678] synonym: "renal aplasia" EXACT [DOID:14766] -synonym: "renal hypodysplasia/aplasia" RELATED [OMIMPS:191830] +synonym: "renal hypodysplasia/aplasia" RELATED [] xref: DOID:14766 {source="MONDO:equivalentTo"} xref: GARD:9228 {source="MONDO:GARD"} xref: HP:0000104 {source="MONDO:otherHierarchy"} @@ -417688,30 +417771,30 @@ subset: ordo_disorder {source="Orphanet:412"} subset: orphanet_rare {source="Orphanet:412"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "apolipoprotein E, deficiency or defect of" RELATED [OMIM:617347] +synonym: "apolipoprotein E, deficiency or defect of" RELATED [] synonym: "Broad beta disease" RELATED [GARD:0006703] -synonym: "Broad-betalipoproteinemia" EXACT [Orphanet:412] +synonym: "Broad-betalipoproteinemia" EXACT [OMIM:617347] synonym: "carbohydrate induced hyperlipemia" EXACT [DOID:3145] -synonym: "coronary artery disease, Severe, Susceptibility to" RELATED [OMIM:617347] +synonym: "coronary artery disease, Severe, Susceptibility to" RELATED [] synonym: "dysbetalipoproteinemia" RELATED [GARD:0006703] -synonym: "dysbetalipoproteinemia due to defect in apolipoprotein E-D" RELATED [OMIM:617347] +synonym: "dysbetalipoproteinemia due to defect in apolipoprotein E-D" RELATED [] synonym: "dyslipidaemia type 3" EXACT OMO:0003005 [] -synonym: "dyslipidemia type 3" EXACT [Orphanet:412] -synonym: "familial dysbetalipoproteinemia" EXACT [Orphanet:412] -synonym: "familial Hyperbeta- and Prebetalipoproteinemia" RELATED [OMIM:617347] -synonym: "familial hypercholesterolaemia with hyperlipaemia" RELATED [DOID:3145] -synonym: "familial hypercholesterolemia with hyperlipemia" RELATED [OMIM:617347] -synonym: "familial hyperlipoproteinemia type 3" EXACT [Orphanet:412] +synonym: "dyslipidemia type 3" EXACT [] +synonym: "familial dysbetalipoproteinemia" EXACT [] +synonym: "familial Hyperbeta- and Prebetalipoproteinemia" RELATED [] +synonym: "familial hypercholesterolaemia with hyperlipaemia" RELATED [] +synonym: "familial hypercholesterolemia with hyperlipemia" RELATED [] +synonym: "familial hyperlipoproteinemia type 3" EXACT [] synonym: "familial type 3 hyperlipoproteinemia" EXACT [DOID:3145] -synonym: "floating-betalipoproteinemia" RELATED [OMIM:617347] +synonym: "floating-betalipoproteinemia" RELATED [] synonym: "HLP type 3" EXACT [Orphanet:412] -synonym: "hyperlipemia with Familial Hypercholesterolemic xanthomatosis" RELATED [OMIM:617347] +synonym: "hyperlipemia with Familial Hypercholesterolemic xanthomatosis" RELATED [] synonym: "hyperlipidemia type 3" EXACT [Orphanet:412] -synonym: "hyperlipoproteinemia type III" EXACT [MONDO:0002524] -synonym: "hyperlipoproteinemia, type III" RELATED [OMIM:617347] -synonym: "low density lipoprotein cholesterol level quantitative trait locus 5" RELATED [OMIM:617347] -synonym: "remnant disease" EXACT [Orphanet:412] -synonym: "remnant hyperlipidemia" EXACT [DOID:3145, NCIT:C34710] +synonym: "hyperlipoproteinemia type III" EXACT [DOID:3145, MONDO:0002524] +synonym: "hyperlipoproteinemia, type III" RELATED [] +synonym: "low density lipoprotein cholesterol level quantitative trait locus 5" RELATED [] +synonym: "remnant disease" EXACT [] +synonym: "remnant hyperlipidemia" EXACT [DOID:3145] synonym: "remnant removal disease" RELATED [GARD:0006703] xref: DOID:3145 {source="MONDO:equivalentTo"} xref: GARD:6703 {source="MONDO:GARD"} @@ -417794,10 +417877,10 @@ subset: ordo_clinical_syndrome {source="Orphanet:415286"} subset: ordo_group_of_disorders {source="Orphanet:415286"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bilirubin encephalopathy" EXACT [DOID:2382] +synonym: "bilirubin encephalopathy" EXACT [DOID:2382, NCIT:C84799, Orphanet:415286] synonym: "hyperbilirubinemic encephalopathy" RELATED [GARD:0006830] -synonym: "kernicterus" EXACT [Orphanet:415286] -synonym: "kernicterus spectrum disorder" RELATED [Orphanet:415286] +synonym: "kernicterus" EXACT [DOID:2382, NCIT:C84799, Orphanet:415286] +synonym: "kernicterus spectrum disorder" RELATED [] xref: DOID:2382 {source="EFO:1001002", source="MONDO:equivalentTo"} xref: GARD:6830 {source="MONDO:GARD"} xref: ICD10CM:P57 {source="EFO:1001002", source="DOID:2382"} @@ -417834,14 +417917,14 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:992"} subset: ordo_group_of_disorders {source="Orphanet:418"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adrenal hyperplasia" BROAD [NCIT:C34360] +synonym: "adrenal hyperplasia" BROAD [] synonym: "adrenal hyperplasia, congenital" EXACT [NCIT:C34360] -synonym: "adrenogenital disorder" BROAD [NCIT:C34360] -synonym: "adrenogenital syndrome" BROAD [NCIT:C34360] +synonym: "adrenogenital disorder" BROAD [] +synonym: "adrenogenital syndrome" BROAD [] synonym: "CAH" EXACT ABBREVIATION [Orphanet:418] -synonym: "congenital adrenal gland hyperplasia" EXACT [NCIT:C34360] -synonym: "congenital lipoid adrenal hyperplasia" RELATED [DOID:0050811] -synonym: "lipoid CAH" RELATED [DOID:0050811] +synonym: "congenital adrenal gland hyperplasia" EXACT [icd11.foundation:172733763, NCIT:C34360] +synonym: "congenital lipoid adrenal hyperplasia" RELATED [] +synonym: "lipoid CAH" RELATED [] xref: DOID:0050811 {source="MONDO:equivalentTo"} xref: GARD:1467 {source="MONDO:GARD"} xref: ICD10CM:E25 {source="DOID:0050811"} @@ -417958,13 +418041,13 @@ subset: ordo_disorder {source="Orphanet:420402"} subset: orphanet_rare {source="Orphanet:420402"} subset: rare synonym: "canal dehiscence syndrome" EXACT [DOID:0080193] -synonym: "Minor's syndrome" EXACT [DOID:0080193] -synonym: "Minorbs syndrome" EXACT [DOID:0080193] +synonym: "Minor's syndrome" EXACT [] +synonym: "Minorbs syndrome" EXACT [] synonym: "SCD syndrome" EXACT [Orphanet:420402] synonym: "superior canal dehiscence" EXACT [DOID:0080193] synonym: "superior canal syndrome" EXACT [DOID:0080193] -synonym: "Superior Semicircular Canal Dehiscence" EXACT [NORD:1891] -synonym: "superior semicircular canal dehiscence" RELATED [DOID:0080193] +synonym: "Superior Semicircular Canal Dehiscence" EXACT [DOID:0080193, NORD:1891] +synonym: "superior semicircular canal dehiscence" RELATED [] synonym: "superior semicircular canal dehiscence syndrome" EXACT [DOID:0080193] synonym: "third mobile window syndrome" EXACT [DOID:0080193] xref: DOID:0080193 {source="MONDO:equivalentTo"} @@ -417986,24 +418069,24 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:420429"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alpha-1,4-glucosidase acid deficiency, late onset" EXACT [Orphanet:420429] +synonym: "Alpha-1,4-glucosidase acid deficiency, late onset" EXACT [] synonym: "Alpha-1,4-glucosidase acid deficiency, late-onset" EXACT [Orphanet:420429] -synonym: "glycogen storage disease type 2, late onset" EXACT [Orphanet:420429] +synonym: "glycogen storage disease type 2, late onset" EXACT [] synonym: "glycogen storage disease type 2, late-onset" EXACT [Orphanet:420429] -synonym: "glycogen storage disease type II, late onset" EXACT [Orphanet:420429] +synonym: "glycogen storage disease type II, late onset" EXACT [] synonym: "glycogen storage disease type II, late-onset" EXACT [Orphanet:420429] -synonym: "glycogenosis type 2, late onset" EXACT [Orphanet:420429] +synonym: "glycogenosis type 2, late onset" EXACT [] synonym: "glycogenosis type 2, late-onset" EXACT [Orphanet:420429] -synonym: "glycogenosis type II, late onset" EXACT [Orphanet:420429] +synonym: "glycogenosis type II, late onset" EXACT [] synonym: "glycogenosis type II, late-onset" EXACT [Orphanet:420429] -synonym: "GSD due to acid maltase deficiency, late onset" EXACT [Orphanet:420429] +synonym: "GSD due to acid maltase deficiency, late onset" EXACT [] synonym: "GSD due to acid maltase deficiency, late-onset" EXACT [Orphanet:420429] -synonym: "GSD type 2, late onset" EXACT [Orphanet:420429] +synonym: "GSD type 2, late onset" EXACT [] synonym: "GSD type 2, late-onset" EXACT [Orphanet:420429] -synonym: "GSD type II, late onset" EXACT [Orphanet:420429] +synonym: "GSD type II, late onset" EXACT [] synonym: "GSD type II, late-onset" EXACT [Orphanet:420429] -synonym: "LOPD" EXACT ABBREVIATION [Orphanet:420429] -synonym: "Pompe disease, late onset" EXACT [Orphanet:420429] +synonym: "LOPD" EXACT ABBREVIATION [] +synonym: "Pompe disease, late onset" EXACT [] synonym: "Pompe disease, late-onset" EXACT [Orphanet:420429] xref: GARD:21746 {source="MONDO:GARD"} xref: ICD10CM:E74.0 {source="Orphanet:420429", source="Orphanet:420429/attributed", source="Orphanet:420429/ntbt"} @@ -418135,9 +418218,9 @@ subset: rare synonym: "hereditary clear cell renal carcinoma" EXACT [MONDO:patterns/hereditary] synonym: "hereditary clear cell renal cell adenocarcinoma" EXACT [Orphanet:422526] synonym: "Hereditary clear cell renal cell cancer" EXACT [NCIT:C36260] -synonym: "hereditary clear cell renal cell carcinoma" EXACT [NCIT:C36260] +synonym: "hereditary clear cell renal cell carcinoma" EXACT [NCIT:C36260, Orphanet:422526] synonym: "hereditary conventional (clear cell) renal cell carcinoma" EXACT [NCIT:C36260] -synonym: "hereditary conventional renal cell carcinoma" RELATED [DOID:7192] +synonym: "hereditary conventional renal cell carcinoma" RELATED [] xref: DOID:7192 {source="MONDO:equivalentTo"} xref: GARD:9571 {source="MONDO:GARD"} xref: ICD10CM:C64 {source="Orphanet:422526", source="Orphanet:422526/attributed", source="Orphanet:422526/ntbt"} @@ -418168,8 +418251,8 @@ synonym: "hyperthermia of anesthesia" EXACT [Orphanet:423] synonym: "malignant hyperpyrexia" EXACT [NCIT:C84869] synonym: "malignant hyperpyrexia due to anaesthesia" EXACT OMO:0003005 [] synonym: "malignant hyperpyrexia due to anesthesia" EXACT [DOID:8545] -synonym: "malignant hyperthermia" EXACT [MONDO:ambiguous] -synonym: "malignant hyperthermia of anesthesia" EXACT CLINGEN_LABEL [] +synonym: "malignant hyperthermia" EXACT [DOID:8545, MONDO:ambiguous, NCIT:C84869] +synonym: "malignant hyperthermia of anesthesia" EXACT CLINGEN_LABEL [Orphanet:423] synonym: "malignant hyperthermia syndrome" EXACT [NCIT:C84869] xref: DOID:8545 {source="MONDO:equivalentTo"} xref: GARD:6964 {source="MONDO:GARD"} @@ -418317,7 +418400,7 @@ name: obsolete rare carcinoma of stomach def: "OBSOLETE. Rare stomach carcinoma." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423771"} -synonym: "rare gastric carcinoma" EXACT [MONDO:patterns/rare, Orphanet:423771] +synonym: "rare gastric carcinoma" EXACT [MONDO:patterns/rare] synonym: "rare stomach carcinoma" EXACT [] xref: Orphanet:423771 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -418335,7 +418418,7 @@ subset: ordo_group_of_disorders {source="Orphanet:423776"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary cancer of stomach" EXACT [Orphanet:423776] -synonym: "hereditary gastric cancer" EXACT [MONDO:patterns/hereditary] +synonym: "hereditary gastric cancer" EXACT [MONDO:patterns/hereditary, Orphanet:423776] xref: GARD:21758 {source="MONDO:GARD"} xref: MEDGEN:1843054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:423776 {source="MONDO:equivalentTo"} @@ -418351,7 +418434,7 @@ id: MONDO:0018503 name: carcinoma of stomach, salivary gland type comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - subset: obsoletion_candidate -synonym: "gastric carcinoma, salivary gland type" EXACT [Orphanet:423781] +synonym: "gastric carcinoma, salivary gland type" EXACT [] xref: ICD10CM:C16.0 {source="Orphanet:423781/nd", source="Orphanet:423781"} xref: ICD10CM:C16.1 {source="Orphanet:423781/nd", source="Orphanet:423781"} xref: ICD10CM:C16.2 {source="Orphanet:423781/nd", source="Orphanet:423781"} @@ -418379,7 +418462,7 @@ synonym: "anaplastic carcinoma of the stomach" EXACT [NCIT:C5476] synonym: "anaplastic gastric carcinoma" EXACT [NCIT:C5476] synonym: "Gastric undifferentiated carcinoma" EXACT [NCIT:C5476] synonym: "stomach undifferentiated carcinoma" EXACT [MONDO:patterns/location] -synonym: "undifferentiated carcinoma of stomach" EXACT [NCIT:C5476] +synonym: "undifferentiated carcinoma of stomach" EXACT [NCIT:C5476, Orphanet:423786] synonym: "undifferentiated carcinoma of the stomach" EXACT [NCIT:C5476] synonym: "undifferentiated gastric (stomach) cancer" EXACT [NCIT:C5476] synonym: "undifferentiated gastric carcinoma" EXACT [NCIT:C5476, Orphanet:423786] @@ -418411,7 +418494,7 @@ def: "OBSOLETE. Any of the forms of small intestine neoplasm that have a rare in subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423793"} synonym: "rare small intestine neoplasm" EXACT [MONDO:patterns/rare] -synonym: "rare tumor of small bowel" EXACT [Orphanet:423793] +synonym: "rare tumor of small bowel" EXACT [] xref: Orphanet:423793 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -418458,7 +418541,7 @@ name: obsolete rare carcinoma of small intestine def: "OBSOLETE. Any of the forms of small intestine carcinoma that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423957"} -synonym: "rare carcinoma of small bowel" EXACT [Orphanet:423957] +synonym: "rare carcinoma of small bowel" EXACT [] synonym: "rare small intestine carcinoma" EXACT [MONDO:patterns/rare] xref: Orphanet:423957 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -418506,12 +418589,12 @@ synonym: "NET of the small intestine" EXACT [Orphanet:423975] synonym: "neuroendocrine neoplasm of small intestine" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of the small intestine" EXACT [Orphanet:423975] synonym: "neuroendocrine tumor of small bowel" EXACT [Orphanet:423975] -synonym: "neuroendocrine tumor of the small intestine" RELATED [Orphanet:423975] +synonym: "neuroendocrine tumor of the small intestine" RELATED [] synonym: "neuroendocrine tumour of small bowel" EXACT OMO:0003005 [] synonym: "neuroendocrine tumour of the small intestine" RELATED OMO:0003005 [] synonym: "small intestinal neuroendocrine neoplasm" EXACT [NCIT:C5803] synonym: "small intestine NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] -synonym: "small intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5803] +synonym: "small intestine neuroendocrine neoplasm" EXACT [DOID:4434, MONDO:patterns/location, NCIT:C5803] synonym: "small intestine neuroendocrine tumor" EXACT [DOID:4434, MONDO:patterns/neuroendocrine_neoplasm] synonym: "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" RELATED [MONDO:patterns/neuroendocrine_neoplasm] synonym: "small intestine neuroendocrine tumour" EXACT OMO:0003005 [] @@ -418572,13 +418655,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "colon epidermoid carcinoma" EXACT [NCIT:C5490] synonym: "colon squamous cell cancer" EXACT [NCIT:C5490] -synonym: "colon squamous cell carcinoma" EXACT [MONDO:0003485, MONDO:patterns/location, NCIT:C5490] +synonym: "colon squamous cell carcinoma" EXACT [DOID:5519, MONDO:0003485, MONDO:patterns/location, NCIT:C5490] synonym: "colonic epidermoid carcinoma" EXACT [DOID:5519, NCIT:C5490] synonym: "colonic squamous cell carcinoma" EXACT [NCIT:C5490] synonym: "epidermoid carcinoma of colon" EXACT [NCIT:C5490] synonym: "epidermoid carcinoma of the colon" EXACT [NCIT:C5490] -synonym: "squamous cell carcinoma of colon" EXACT [DOID:5519, NCIT:C5490] -synonym: "squamous cell carcinoma of the colon" EXACT [NCIT:C5490] +synonym: "squamous cell carcinoma of colon" EXACT [NCIT:C5490] +synonym: "squamous cell carcinoma of the colon" EXACT [NCIT:C5490, Orphanet:423994] synonym: "squamous cell colon carcinoma" EXACT [NCIT:C5490] xref: DOID:5519 {source="MONDO:equivalentTo"} xref: GARD:21768 {source="MONDO:GARD"} @@ -418609,7 +418692,7 @@ def: "OBSOLETE. Any of the forms of epithelial neoplasm of rectum that have a ra subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:423998"} synonym: "rare epithelial neoplasm of rectum" EXACT [MONDO:patterns/rare] -synonym: "rare rectal epithelial tumor" EXACT [Orphanet:423998] +synonym: "rare rectal epithelial tumor" EXACT [] xref: Orphanet:423998 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -418628,11 +418711,11 @@ subset: rare synonym: "rectal squamous carcinoma" EXACT [NCIT:C5554] synonym: "rectal squamous cell cancer" EXACT [NCIT:C5554] synonym: "rectal squamous cell carcinoma" EXACT [NCIT:C5554, Orphanet:424002] -synonym: "rectum squamous cell carcinoma" EXACT [MONDO:0003491, MONDO:patterns/location] +synonym: "rectum squamous cell carcinoma" EXACT [DOID:5528, MONDO:0003491, MONDO:patterns/location] synonym: "squamous carcinoma of rectum" EXACT [DOID:5528, NCIT:C5554] synonym: "squamous carcinoma of the rectum" EXACT [NCIT:C5554] synonym: "squamous cell carcinoma of rectum" EXACT [NCIT:C5554] -synonym: "squamous cell carcinoma of the rectum" EXACT [DOID:5528, NCIT:C5554] +synonym: "squamous cell carcinoma of the rectum" EXACT [NCIT:C5554, Orphanet:424002] xref: DOID:5528 {source="MONDO:equivalentTo"} xref: GARD:21770 {source="MONDO:GARD"} xref: ICD10CM:C20 {source="Orphanet:424002/ntbt", source="Orphanet:424002"} @@ -418689,7 +418772,7 @@ id: MONDO:0018520 name: obsolete rare epithelial tumor of pancreas subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:424033"} -synonym: "rare pancreatic epithelial tumor" EXACT [Orphanet:424033] +synonym: "rare pancreatic epithelial tumor" EXACT [] xref: Orphanet:424033 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -418707,8 +418790,8 @@ subset: orphanet_rare {source="Orphanet:424039"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "pancreas squamous cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "pancreatic squamous cell carcinoma" EXACT [Orphanet:424039] -synonym: "squamous cell carcinoma of the pancreas" RELATED [Orphanet:424039] +synonym: "pancreatic squamous cell carcinoma" EXACT [DOID:0080323, NCIT:C173813, Orphanet:424039] +synonym: "squamous cell carcinoma of the pancreas" RELATED [] xref: DOID:0080323 {source="MONDO:equivalentTo"} xref: GARD:21776 {source="MONDO:GARD"} xref: ICD10CM:C25.0 {source="Orphanet:424039/nd", source="Orphanet:424039"} @@ -418740,19 +418823,19 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:424053"} subset: orphanet_rare {source="Orphanet:424053"} subset: rare -synonym: "colloid cystadenoma of pancreas" RELATED [NCIT:C5718] -synonym: "colloid cystadenoma of the pancreas" RELATED [NCIT:C5718] -synonym: "colloidal cystadenoma of pancreas" RELATED [NCIT:C5718] -synonym: "colloidal cystadenoma of the pancreas" RELATED [NCIT:C5718] -synonym: "mucinous cystadenocarcinoma of the pancreas" RELATED [Orphanet:424053] +synonym: "colloid cystadenoma of pancreas" RELATED [] +synonym: "colloid cystadenoma of the pancreas" RELATED [] +synonym: "colloidal cystadenoma of pancreas" RELATED [] +synonym: "colloidal cystadenoma of the pancreas" RELATED [] +synonym: "mucinous cystadenocarcinoma of the pancreas" RELATED [] synonym: "mucinous cystadenoma of pancreas" EXACT [DOID:7735, NCIT:C5718] -synonym: "mucinous cystadenoma of the pancreas" RELATED [NCIT:C5718] +synonym: "mucinous cystadenoma of the pancreas" RELATED [] synonym: "pancreas mucinous cystadenoma" EXACT [MONDO:patterns/location] -synonym: "pancreatic colloid cystadenoma" RELATED [NCIT:C5718] -synonym: "pancreatic colloidal cystadenoma" RELATED [NCIT:C5718] -synonym: "pancreatic mucinous cystadenocarcinoma" RELATED [Orphanet:424053] -synonym: "pancreatic mucinous cystadenoma" EXACT [MONDO:0004157, NCIT:C5718] -synonym: "pancreatic mucinous cystic neoplasm" RELATED [DOID:7235] +synonym: "pancreatic colloid cystadenoma" RELATED [] +synonym: "pancreatic colloidal cystadenoma" RELATED [] +synonym: "pancreatic mucinous cystadenocarcinoma" RELATED [] +synonym: "pancreatic mucinous cystadenoma" EXACT [DOID:7235, MONDO:0004157, NCIT:C5718] +synonym: "pancreatic mucinous cystic neoplasm" RELATED [] xref: DOID:7235 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:7735 {source="MONDO:equivalentTo"} xref: GARD:21778 {source="MONDO:GARD"} @@ -418787,9 +418870,9 @@ subset: ordo_disorder {source="Orphanet:424065"} subset: orphanet_rare {source="Orphanet:424065"} subset: rare synonym: "pancreatic solid pseudopapillary carcinoma" EXACT [DOID:6827, MONDO:0004003, NCIT:C5728, Orphanet:424065] -synonym: "solid pseudopapillary carcinoma of pancreas" EXACT [NCIT:C5728] +synonym: "solid pseudopapillary carcinoma of pancreas" EXACT [NCIT:C5728, Orphanet:424065] synonym: "solid pseudopapillary carcinoma of the pancreas" EXACT [NCIT:C5728] -synonym: "solid pseudopapillary neoplasm of the pancreas" BROAD [Orphanet:424065] +synonym: "solid pseudopapillary neoplasm of the pancreas" BROAD [] xref: DOID:6827 {source="MONDO:equivalentTo"} xref: GARD:21780 {source="MONDO:GARD"} xref: ICD10CM:C25.0 {source="Orphanet:424065/nd", source="Orphanet:424065"} @@ -418829,7 +418912,7 @@ subset: ordo_disorder {source="Orphanet:424107"} subset: orphanet_rare {source="Orphanet:424107"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital myopathy with myasthenic-like onset" EXACT CLINGEN_LABEL [] +synonym: "congenital myopathy with myasthenic-like onset" EXACT CLINGEN_LABEL [Orphanet:424107] xref: GARD:21783 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:424107/attributed", source="Orphanet:424107/ntbt", source="Orphanet:424107"} xref: MEDGEN:1642781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -418845,7 +418928,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0018529 name: obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 subset: ordo_group_of_disorders {source="Orphanet:424925"} -synonym: "qualitative or quantitative defects of Torsin-1A-interacting protein type 1" EXACT [MONDORULE:1, Orphanet:424925] +synonym: "qualitative or quantitative defects of Torsin-1A-interacting protein type 1" EXACT [MONDORULE:1] xref: Orphanet:424925 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -418857,7 +418940,7 @@ id: MONDO:0018530 name: obsolete rare epithelial tumor of liver and intrahepatic biliary tract subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:424933"} -synonym: "rare epithelial tumor of liver and IBT" EXACT [Orphanet:424933] +synonym: "rare epithelial tumor of liver and IBT" EXACT [] xref: Orphanet:424933 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -418874,22 +418957,22 @@ subset: gard_rare {source="GARD:21786", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:424936"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of liver" BROAD [NCIT:C7927] -synonym: "cancer of liver and intrahepatic biliary tract" BROAD [NCIT:C7927] -synonym: "cancer of the liver" BROAD [NCIT:C7927] -synonym: "cancer of the liver and intrahepatic biliary tract" BROAD [NCIT:C7927] +synonym: "cancer of liver" BROAD [] +synonym: "cancer of liver and intrahepatic biliary tract" BROAD [] +synonym: "cancer of the liver" BROAD [] +synonym: "cancer of the liver and intrahepatic biliary tract" BROAD [] synonym: "carcinoma of liver" BROAD [MONDO:patterns/carcinoma] synonym: "carcinoma of liver and IBT" EXACT [Orphanet:424936] -synonym: "hepatic cancer" BROAD [NCIT:C7927] +synonym: "hepatic cancer" BROAD [] synonym: "hepatocellular carcinoma plus intrahepatic cholangiocarcinoma" RELATED [ONCOTREE:HCCIHCH] -synonym: "liver and hepatobiliary cancer, NOS" BROAD EXCLUDE [NCIT:C7927] -synonym: "liver and intrahepatic bile duct cancer" BROAD [NCIT:C7927] +synonym: "liver and hepatobiliary cancer, NOS" BROAD EXCLUDE [] +synonym: "liver and intrahepatic bile duct cancer" BROAD [] synonym: "liver and intrahepatic bile duct carcinoma" EXACT [NCIT:C7927] synonym: "liver and intrahepatic biliary tract cancer" EXACT [NCIT:C7927] synonym: "liver and intrahepatic biliary tract carcinoma" EXACT [NCIT:C7927] -synonym: "liver cancer" BROAD [NCIT:C7927] +synonym: "liver cancer" BROAD [] synonym: "liver carcinoma" BROAD [https://orcid.org/0000-0002-6601-2165] -synonym: "liver/hepatobiliary cancer" BROAD [NCIT:C7927] +synonym: "liver/hepatobiliary cancer" BROAD [] synonym: "primary liver carcinoma" EXACT [NCIT:C7927] xref: GARD:21786 {source="MONDO:GARD"} xref: ICD10CM:C22.1 {source="MONDO:equivalentTo"} @@ -418909,9 +418992,9 @@ intersection_of: disease_has_location UBERON:0002107 ! liver id: MONDO:0018532 name: obsolete adenocarcinoma of liver and intrahepatic biliary tract subset: ordo_disorder {source="Orphanet:424943"} -synonym: "adenocarcinoma of liver and IBT" EXACT [Orphanet:424943] -synonym: "adenocarcinoma of the liver and IBT" EXACT [Orphanet:424943] -synonym: "adenocarcinoma of the liver and intrahepatic biliary tract" EXACT [Orphanet:424943] +synonym: "adenocarcinoma of liver and IBT" EXACT [] +synonym: "adenocarcinoma of the liver and IBT" EXACT [] +synonym: "adenocarcinoma of the liver and intrahepatic biliary tract" EXACT [] xref: ICD10CM:C22.0 {source="Orphanet:424943", source="Orphanet:424943/nd"} xref: ICD10CM:C22.1 {source="Orphanet:424943", source="Orphanet:424943/nd"} xref: Orphanet:424943 {source="MONDO:obsoleteEquivalent"} @@ -418991,7 +419074,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:424991"} subset: orphanet_rare {source="Orphanet:424991"} subset: rare -synonym: "adenocarcinoma of gallbladder and EBT" EXACT [Orphanet:424991] +synonym: "adenocarcinoma of gallbladder and EBT" EXACT [] synonym: "adenocarcinoma of the gallbladder and EBT" EXACT [Orphanet:424991] synonym: "adenocarcinoma of the gallbladder and extrahepatic biliary tract" EXACT [Orphanet:424991] xref: GARD:21791 {source="MONDO:GARD"} @@ -419048,7 +419131,7 @@ id: MONDO:0018539 name: obsolete rare epithelial tumor of small intestine subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:425368"} -synonym: "rare epithelial tumor of small bowel" EXACT [Orphanet:425368] +synonym: "rare epithelial tumor of small bowel" EXACT [] xref: Orphanet:425368 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -419065,11 +419148,11 @@ subset: ordo_disorder {source="Orphanet:42642"} subset: orphanet_rare {source="Orphanet:42642"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Marshall syndrome" RELATED [NCIT:C116917] -synonym: "Marshall syndrome with periodic fever" EXACT [Orphanet:42642] +synonym: "Marshall syndrome" RELATED [] +synonym: "Marshall syndrome with periodic fever" EXACT [DOID:0081451, Orphanet:42642] synonym: "periodic fever, aphthous stomatitis, pharyngitis and adenitis" EXACT [GARD:0005657] synonym: "periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome" EXACT [NCIT:C116917] -synonym: "periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" EXACT [Orphanet:42642] +synonym: "periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" EXACT [DOID:0081451, Orphanet:42642] synonym: "PFAPA" EXACT ABBREVIATION [GARD:0005657] xref: DOID:0081451 {source="MONDO:equivalentTo"} xref: GARD:5657 {source="MONDO:GARD"} @@ -419114,7 +419197,7 @@ subset: ordo_group_of_disorders {source="Orphanet:42738"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "neutropenia, severe congenital" EXACT [OMIMPS:202700] -synonym: "SCN" EXACT ABBREVIATION [] +synonym: "SCN" EXACT ABBREVIATION [NCIT:C166152] synonym: "Severe Chronic Neutropenia" EXACT [NORD:1705] xref: DOID:0050590 {source="MONDO:equivalentTo"} xref: GARD:13592 {source="MONDO:GARD"} @@ -419149,8 +419232,8 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:428"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AD hypocalcemia" EXACT [Orphanet:428] -synonym: "HYPOC" RELATED EXCLUDE [DOID:0090109] -synonym: "hypocalcemia" BROAD [OMIMPS:601198] +synonym: "HYPOC" RELATED EXCLUDE [] +synonym: "hypocalcemia" BROAD [] synonym: "hypocalcemia, autosomal dominant" EXACT [GARD:0002877] xref: DOID:0090109 {source="MONDO:equivalentTo"} xref: GARD:2877 {source="MONDO:GARD"} @@ -419181,24 +419264,24 @@ subset: orphanet_rare {source="Orphanet:43"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABCD1 deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] -synonym: "adrenoleukodystrophy" EXACT [DOID:10588] +synonym: "adrenoleukodystrophy" EXACT [DOID:10588, icd11.foundation:1085655586, NCIT:C61252, OMIM:300100] synonym: "adrenoleukodystrophy, X-linked" EXACT [MONDO:patterns/x_linked] -synonym: "adrenoleukodystrophy, X-linked recessive" EXACT [OMIM:300100, OMIM:genemap2] -synonym: "adrenomyeloneuropathy, adult" EXACT [OMIM:300100] -synonym: "adrenomyeloneuropathy, adult, X-linked recessive" EXACT [OMIM:300100, OMIM:genemap2] -synonym: "ALD" EXACT ABBREVIATION [DOID:10588, Orphanet:43] -synonym: "Bronze-Schilder disease" EXACT [DOID:10588] -synonym: "diffuse cerebral sclerosis of Schilder" EXACT [DOID:10588] -synonym: "diffuse sclerosis" RELATED [DOID:10588] +synonym: "adrenoleukodystrophy, X-linked recessive" EXACT [] +synonym: "adrenomyeloneuropathy, adult" EXACT [] +synonym: "adrenomyeloneuropathy, adult, X-linked recessive" EXACT [] +synonym: "ALD" EXACT ABBREVIATION [DOID:10588, OMIM:300100, Orphanet:43] +synonym: "Bronze-Schilder disease" EXACT [] +synonym: "diffuse cerebral sclerosis of Schilder" EXACT [] +synonym: "diffuse sclerosis" RELATED [] synonym: "encephalitis periaxialis concentrica" EXACT [DOID:10588] synonym: "encephalitis periaxialis, Schilder's" EXACT [DOID:10588] -synonym: "Schilder disease" RELATED EXCLUDE [DOID:10588] -synonym: "Schilder's disease" RELATED EXCLUDE [DOID:10588] -synonym: "Siemerling-Creutzfeldt disease" EXACT [DOID:10588] +synonym: "Schilder disease" RELATED EXCLUDE [] +synonym: "Schilder's disease" RELATED EXCLUDE [] +synonym: "Siemerling-Creutzfeldt disease" EXACT [DOID:10588, OMIM:300100] synonym: "sudanophilic cerebral sclerosis" EXACT [DOID:10588] -synonym: "X-ALD" EXACT [Orphanet:43] -synonym: "X-Linked Adrenoleukodystrophy" EXACT [NORD:736] -synonym: "X-linked adrenoleukodystrophy" EXACT [DOID:10588] +synonym: "X-ALD" EXACT ABBREVIATION [OMIM:300100, Orphanet:43] +synonym: "X-Linked Adrenoleukodystrophy" EXACT [DOID:10588, NORD:736, Orphanet:43] +synonym: "X-linked adrenoleukodystrophy" EXACT [DOID:10588, Orphanet:43] synonym: "X-linked ALD" EXACT [Orphanet:43] xref: DOID:10588 {source="MONDO:equivalentTo"} xref: GARD:5758 {source="MONDO:GARD"} @@ -419309,8 +419392,8 @@ id: MONDO:0018549 name: obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: progressive muscular dystrophy' subset: ordo_group_of_disorders {source="Orphanet:431263"} -synonym: "late-onset scapuloperoneal syndrome, myopathic type" EXACT [Orphanet:431263] -synonym: "late-onset SPMD with hyaline bodies" EXACT [Orphanet:431263] +synonym: "late-onset scapuloperoneal syndrome, myopathic type" EXACT [] +synonym: "late-onset SPMD with hyaline bodies" EXACT [] xref: Orphanet:431263 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -419321,7 +419404,7 @@ consider: MONDO:0016106 id: MONDO:0018550 name: obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder subset: ordo_group_of_disorders {source="Orphanet:431320"} -synonym: "SPOAN and SPOAN-related disorder" EXACT [Orphanet:431320] +synonym: "SPOAN and SPOAN-related disorder" EXACT [] xref: Orphanet:431320 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -419340,7 +419423,7 @@ subset: ordo_disorder {source="Orphanet:431341"} subset: ordo_morphological_anomaly {source="Orphanet:431341"} subset: orphanet_rare {source="Orphanet:431341"} subset: rare -synonym: "patent urachus" EXACT [MONDO:ambiguous] +synonym: "patent urachus" EXACT [icd11.foundation:1391202028, MONDO:ambiguous, NCIT:C99005, Orphanet:431341] synonym: "patent urachus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:21798 {source="MONDO:GARD"} xref: HP:0010479 {source="MONDO:otherHierarchy"} @@ -419405,7 +419488,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:431353"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PVOD and/or PCH" EXACT ABBREVIATION [Orphanet:431353] +synonym: "PVOD and/or PCH" EXACT ABBREVIATION [] xref: EFO:0009199 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:21801 {source="MONDO:GARD"} xref: MEDGEN:785618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -419428,13 +419511,13 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:432"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "central hypogonadism" EXACT [NCIT:C113347] -synonym: "congenital idiopathic hypogonadotropic hypogonadism" NARROW [DOID:0090070] -synonym: "gonadotropic deficiency" EXACT [Orphanet:432] +synonym: "congenital idiopathic hypogonadotropic hypogonadism" NARROW [] +synonym: "gonadotropic deficiency" EXACT [] synonym: "hypogonadism, hypogonadotropic" EXACT [] -synonym: "hypogonadotropic hypogonadism" EXACT [NCIT:C113347] +synonym: "hypogonadotropic hypogonadism" EXACT [DOID:0090070, NCIT:C113347] synonym: "hypogonadotropic hypogonadism with or without anosmia" EXACT [OMIMPS:147950] synonym: "hypogonadotropism" RELATED [MONDO:0004228] -synonym: "isolated congenital gonadotropin deficiency" NARROW [DOID:0090070] +synonym: "isolated congenital gonadotropin deficiency" NARROW [] synonym: "isolated hypogonadotropic hypogonadism" RELATED [] synonym: "low gonadotropins (secondary hypogonadism)" EXACT [] synonym: "nIHH" EXACT [Orphanet:432] @@ -419473,10 +419556,10 @@ subset: ordo_disorder {source="Orphanet:43393"} subset: orphanet_rare {source="Orphanet:43393"} subset: rare synonym: "Eaton Lambert syndrome" EXACT [GARD:0006851] -synonym: "Eaton-Lambert syndrome" EXACT [DOID:0050214, MESH:D015624] -synonym: "Lambert Eaton myasthenic syndrome" EXACT [GARD:0006851] +synonym: "Eaton-Lambert syndrome" EXACT [DOID:0050214, icd11.foundation:796417193, MESH:D015624] +synonym: "Lambert Eaton myasthenic syndrome" EXACT [GARD:0006851, NCIT:C3155] synonym: "Lambert Eaton syndrome" EXACT [GARD:0006851] -synonym: "Lambert-Eaton syndrome" EXACT [DOID:0050214, MESH:D015624] +synonym: "Lambert-Eaton syndrome" EXACT [DOID:0050214, icd11.foundation:796417193, MESH:D015624] synonym: "LEMS" EXACT ABBREVIATION [DOID:0050214] synonym: "myasthenic syndrome of Lambert-Eaton" EXACT [GARD:0006851] synonym: "myasthenic-myopathic syndrome of Lambert-Eaton" EXACT [GARD:0006851] @@ -419578,7 +419661,7 @@ intersection_of: disease_has_location UBERON:0003100 ! female organism id: MONDO:0018562 name: obsolete hereditary otorhinolaryngological malformation subset: ordo_group_of_disorders {source="Orphanet:435603"} -synonym: "genetic otorhinolaryngological malformation" EXACT [Orphanet:435603] +synonym: "genetic otorhinolaryngological malformation" EXACT [] xref: Orphanet:435603 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -419593,7 +419676,7 @@ name: adactyly of foot subset: gard_rare {source="MONDO:GARD"} subset: ordo_morphological_anomaly {source="Orphanet:435623"} subset: rare -synonym: "congenital absence of toes" EXACT [Orphanet:435623] +synonym: "congenital absence of toes" EXACT [] xref: ICD10CM:Q72.8 {source="Orphanet:435623", source="Orphanet:435623/attributed", source="Orphanet:435623/ntbt"} xref: MEDGEN:539387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:435623 {source="MONDO:equivalentObsolete"} @@ -419715,15 +419798,15 @@ subset: ordo_disorder {source="Orphanet:436"} subset: orphanet_rare {source="Orphanet:436"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "childhood hypophosphatasia" NARROW [DOID:14213] +synonym: "childhood hypophosphatasia" NARROW [] synonym: "deficiency of alkaline phosphatase" EXACT [DOID:14213] -synonym: "deficiency of alkaline phosphatase (disorder) [ambiguous]" EXACT [DOID:14213] +synonym: "deficiency of alkaline phosphatase (disorder) [ambiguous]" EXACT [] synonym: "HPP" EXACT ABBREVIATION [Orphanet:436] -synonym: "hypophospatasia, childhood" NARROW [DOID:14213] +synonym: "hypophospatasia, childhood" NARROW [] synonym: "hypophosphatasia mild" NARROW [GARD:0006734] synonym: "phosphoethanol-aminuria" RELATED [GARD:0006734] synonym: "phosphoethanolaminuria" EXACT [Orphanet:436] -synonym: "Rathburn disease" EXACT [Orphanet:436] +synonym: "Rathburn disease" EXACT [] xref: DOID:14213 {source="MONDO:equivalentTo"} xref: GARD:6734 {source="MONDO:GARD"} xref: ICD10CM:E83.3 {source="Orphanet:436/inclusion", source="Orphanet:436", source="Orphanet:436/ntbt", source="MONDO:directSiblingOf"} @@ -419812,7 +419895,7 @@ id: MONDO:0018574 name: obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome subset: ordo_disorder {source="Orphanet:436151"} subset: otar {source="MONDO:OTAR"} -synonym: "intellectual disability-loss of expressive language-facial dysmorphism syndrome" EXACT [Orphanet:436151] +synonym: "intellectual disability-loss of expressive language-facial dysmorphism syndrome" EXACT [] xref: ICD10CM:Q87.0 {source="Orphanet:436151", source="Orphanet:436151/attributed", source="Orphanet:436151/ntbt"} xref: Orphanet:436151 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0000508 {source="Orphanet:436151", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability @@ -419885,7 +419968,7 @@ replaced_by: MONDO:0000044 id: MONDO:0018579 name: obsolete disorder of ketone body transport subset: ordo_group_of_disorders {source="Orphanet:438072"} -synonym: "disorder of keton body transport" RELATED DUBIOUS [Orphanet:438072] +synonym: "disorder of keton body transport" RELATED DUBIOUS [] synonym: "disorder of ketone body transport" EXACT [] xref: Orphanet:438072 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -419916,7 +419999,7 @@ subset: gard_rare {source="GARD:13110", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:438266"} subset: rare -synonym: "PERM" EXACT ABBREVIATION [OMIM:184850, Orphanet:438266] +synonym: "PERM" EXACT ABBREVIATION [Orphanet:438266] synonym: "progressive encephalomyelitis with rigidity" EXACT [MONDO:0800294] xref: GARD:13110 {source="MONDO:GARD"} xref: ICD10CM:G04.8 {source="Orphanet:438266", source="Orphanet:438266/ntbt"} @@ -419940,11 +420023,11 @@ subset: orphanet_rare {source="Orphanet:438274"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "alpha-cell hyperplasia with glucagonemia" EXACT [OMIM:619290] -synonym: "Mahvash disease" EXACT [Orphanet:438274] +synonym: "Mahvash disease" EXACT [DOID:0112306, OMIM:619290, Orphanet:438274] synonym: "MVAH" EXACT ABBREVIATION [OMIM:619290] synonym: "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor" EXACT [GARD:0010460] synonym: "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour" EXACT OMO:0003005 [] -synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT [GARD:0010460] +synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT [DOID:0112306, GARD:0010460] synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour" EXACT OMO:0003005 [] xref: DOID:0112306 {source="MONDO:equivalentTo"} xref: GARD:10460 {source="MONDO:GARD"} @@ -420087,7 +420170,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:21829", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:439246"} subset: rare -synonym: "Beta2-microglobulinic amyloidosis" EXACT [Orphanet:439246] +synonym: "Beta2-microglobulinic amyloidosis" EXACT [DOID:0080928, Orphanet:439246] xref: DOID:0080928 {source="MONDO:equivalentTo"} xref: GARD:21829 {source="MONDO:GARD"} xref: icd11.foundation:448754119 {source="MONDO:equivalentTo", source="Orphanet:439246", source="https://orcid.org/0000-0002-4142-7153"} @@ -420130,7 +420213,7 @@ subset: gard_rare {source="GARD:7415", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:439729"} subset: rare -synonym: "cutaneous PAN" EXACT [Orphanet:439729] +synonym: "cutaneous PAN" EXACT [NCIT:C117295, Orphanet:439729] synonym: "cutaneous periarteritis nodosa" EXACT [Orphanet:439729] xref: GARD:7415 {source="MONDO:GARD"} xref: ICD10CM:M30.0 {source="Orphanet:439729", source="Orphanet:439729/ntbt"} @@ -420238,7 +420321,7 @@ name: obsolete neonatal adrenoleukodystrophy def: "OBSOLETE. Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD)." [Orphanet:44] subset: ordo_disorder {source="Orphanet:44"} synonym: "adrenoleukodystrophy autosomal neonatal form" RELATED [GARD:0000559] -synonym: "NALD" EXACT ABBREVIATION [Orphanet:44] +synonym: "NALD" EXACT ABBREVIATION [] xref: ICD10CM:E71.3 {source="Orphanet:44/attributed", source="Orphanet:44/ntbt", source="Orphanet:44"} xref: ICD10CM:E71.511 {source="MONDO:obsoleteEquivalent"} xref: MESH:D018901 {source="Orphanet:44", source="Orphanet:44/e"} @@ -420354,7 +420437,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:440437"} subset: orphanet_rare {source="Orphanet:440437"} subset: rare -synonym: "familial colorectal cancer type X" EXACT [NCIT:C120084] +synonym: "familial colorectal cancer type X" EXACT [NCIT:C120084, Orphanet:440437] synonym: "FCCTX" EXACT ABBREVIATION [NCIT:C120084, Orphanet:440437] xref: GARD:21840 {source="MONDO:GARD"} xref: ICD10CM:C18.0 {source="Orphanet:440437/attributed", source="Orphanet:440437/btnt", source="Orphanet:440437"} @@ -420407,7 +420490,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:440727"} subset: orphanet_rare {source="Orphanet:440727"} subset: rare -synonym: "CHR-RPE" EXACT [Orphanet:440727] +synonym: "CHR-RPE" EXACT ABBREVIATION [Orphanet:440727] synonym: "combined hamartoma of the retina and RPE" EXACT [Orphanet:440727] xref: GARD:21843 {source="MONDO:GARD"} xref: MEDGEN:396281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -420426,8 +420509,8 @@ subset: ordo_disorder {source="Orphanet:441"} subset: orphanet_rare {source="Orphanet:441"} subset: rare synonym: "Bradbury Eggleston syndrome" EXACT [GARD:0010428] -synonym: "Bradbury-Eggleston syndrome" EXACT [Orphanet:441] -synonym: "idiopathic orthostatic hypotension" EXACT [Orphanet:441] +synonym: "Bradbury-Eggleston syndrome" EXACT [icd11.foundation:734022291, Orphanet:441] +synonym: "idiopathic orthostatic hypotension" EXACT [icd11.foundation:734022291, Orphanet:441] synonym: "idiopathic orthostatic hypotension (a symptom)" RELATED [GARD:0010428] synonym: "orthostatic hypotension (a symptom)" RELATED [GARD:0010428] synonym: "PAF" EXACT ABBREVIATION [Orphanet:441] @@ -420498,10 +420581,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital goiter" RELATED [] synonym: "congenital goitre" RELATED OMO:0003005 [] -synonym: "congenital hypothyroidism" EXACT [MONDO:patterns/congenital] +synonym: "congenital hypothyroidism" EXACT [DOID:0050328, icd11.foundation:602450215, MONDO:patterns/congenital, NCIT:C26734, Orphanet:442] synonym: "congenital hypothyroidism not due to iodine deficiency" RELATED [] synonym: "congenital iodine deficiency syndrome" EXACT [] -synonym: "cretinism" RELATED DEPRECATED [DOID:0050328] +synonym: "cretinism" RELATED DEPRECATED [] synonym: "fetal iodine deficiency syndrome" RELATED [] synonym: "foetal iodine deficiency syndrome" RELATED OMO:0003005 [] synonym: "infantile hypothyroidism" RELATED [] @@ -420549,7 +420632,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:442582"} subset: orphanet_rare {source="Orphanet:442582"} subset: rare -synonym: "heavy chain amyloidosis" EXACT [Orphanet:442582] +synonym: "heavy chain amyloidosis" EXACT [DOID:0080934, Orphanet:442582] xref: DOID:0080934 {source="MONDO:equivalentTo"} xref: GARD:21847 {source="MONDO:GARD"} xref: ICD10CM:E85.9 {source="Orphanet:442582/ntbt", source="Orphanet:442582"} @@ -420573,7 +420656,7 @@ subset: orphanet_rare {source="Orphanet:442835"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "non-specific early-onset epileptic encephalopathy" EXACT [Orphanet:442835] -synonym: "undetermined early-onset epileptic encephalopathy" EXACT CLINGEN_LABEL [] +synonym: "undetermined early-onset epileptic encephalopathy" EXACT CLINGEN_LABEL [Orphanet:442835] synonym: "undetermined EOEE" EXACT [Orphanet:442835] xref: GARD:15028 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:442835/attributed", source="Orphanet:442835/ntbt", source="Orphanet:442835"} @@ -420619,7 +420702,7 @@ subset: orphanet_rare {source="Orphanet:443079"} subset: rare synonym: "central serous chorioretinopathy after bone marrow transplantation" RELATED [GARD:0000200] synonym: "central serous choroidopathy" RELATED [GARD:0000200] -synonym: "central serous retinopathy" EXACT [NCIT:C115124] +synonym: "central serous retinopathy" EXACT [icd11.foundation:1623925689, NCIT:C115124] synonym: "CSC" EXACT ABBREVIATION [NCIT:C115124] synonym: "CSCR" EXACT ABBREVIATION [Orphanet:443079] xref: GARD:200 {source="MONDO:GARD"} @@ -420779,16 +420862,16 @@ subset: ordo_disorder {source="Orphanet:443227"} subset: orphanet_rare {source="Orphanet:443227"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "paratyphoid" RELATED [DOID:3055] -synonym: "paratyphoid a" RELATED [DOID:3055] -synonym: "paratyphoid A fever" RELATED [DOID:3055] -synonym: "paratyphoid b" RELATED [DOID:3055] -synonym: "paratyphoid B fever" RELATED [DOID:3055] -synonym: "paratyphoid c" RELATED [DOID:3055] -synonym: "paratyphoid C fever" RELATED [DOID:3055] -synonym: "paratyphoid fever A" RELATED [DOID:3055, ICD9CM:002.1, NCIT:C34894] -synonym: "paratyphoid fever B" RELATED [DOID:3055, ICD9CM:002.2, NCIT:C34895] -synonym: "paratyphoid fever C" RELATED [DOID:3055, ICD9CM:002.3, NCIT:C34896] +synonym: "paratyphoid" RELATED [] +synonym: "paratyphoid a" RELATED [] +synonym: "paratyphoid A fever" RELATED [] +synonym: "paratyphoid b" RELATED [] +synonym: "paratyphoid B fever" RELATED [] +synonym: "paratyphoid c" RELATED [] +synonym: "paratyphoid C fever" RELATED [] +synonym: "paratyphoid fever A" RELATED [ICD9CM:002.1] +synonym: "paratyphoid fever B" RELATED [ICD9CM:002.2] +synonym: "paratyphoid fever C" RELATED [ICD9CM:002.3] xref: DOID:3055 {source="MONDO:equivalentTo", source="EFO:0007420"} xref: EFO:0007420 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:21855 {source="MONDO:GARD"} @@ -420881,7 +420964,7 @@ subset: rare synonym: "colorectal cancer, hereditary nonpolyposis" EXACT [OMIMPS:120435] synonym: "familial nonpolyposis colon cancer" EXACT [Orphanet:443909] synonym: "familial nonpolyposis colorectal cancer" EXACT [Orphanet:443909] -synonym: "hereditary nonpolyposis colon cancer" EXACT CLINGEN_LABEL [NCIT:C120083] +synonym: "hereditary nonpolyposis colon cancer" EXACT CLINGEN_LABEL [Orphanet:443909] synonym: "hereditary nonpolyposis colorectal cancer" EXACT [NCIT:C120083, Orphanet:443909] synonym: "Hereditary nonpolyposis colorectal cancer (HNPCC)" EXACT [NCIT:C120083] synonym: "HNPCC" EXACT ABBREVIATION [NCIT:C120083, Orphanet:443909] @@ -420934,9 +421017,9 @@ subset: ordo_disorder {source="Orphanet:444002"} subset: ordo_malformation_syndrome {source="Orphanet:444002"} subset: orphanet_rare {source="Orphanet:444002"} subset: rare -synonym: "11q22.2-q22.3 deletion syndrome" EXACT [Orphanet:444002] +synonym: "11q22.2-q22.3 deletion syndrome" EXACT [] synonym: "Del(11)(q22.2q22.3)" EXACT [Orphanet:444002] -synonym: "monosomy 11q22.2-q22.3" EXACT [Orphanet:444002] +synonym: "monosomy 11q22.2-q22.3" EXACT [] synonym: "monosomy 11q22.2q22.3" EXACT [Orphanet:444002] xref: GARD:21858 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:444002", source="Orphanet:444002/attributed", source="Orphanet:444002/ntbt"} @@ -421029,10 +421112,10 @@ subset: ordo_disorder {source="Orphanet:444463"} subset: orphanet_rare {source="Orphanet:444463"} subset: rare synonym: "Evans syndrome associated with primary immunodeficiency" EXACT [Orphanet:444463] -synonym: "TPPII deficiency" EXACT [Orphanet:444463] +synonym: "TPPII deficiency" EXACT [] synonym: "TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease" EXACT [Orphanet:444463] synonym: "triangle disease" EXACT [Orphanet:444463] -synonym: "tripeptidyl-peptidase II deficiency" EXACT [Orphanet:444463] +synonym: "tripeptidyl-peptidase II deficiency" EXACT [] xref: GARD:17766 {source="MONDO:GARD"} xref: ICD10CM:D61.0 {source="MONDO:relatedTo", source="Orphanet:444463/attributed", source="Orphanet:444463/ntbt", source="Orphanet:444463"} xref: Orphanet:444463 {source="MONDO:equivalentTo"} @@ -421170,7 +421253,7 @@ subset: gard_rare {source="GARD:21866", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:447757"} subset: orphanet_rare {source="Orphanet:447757"} subset: rare -synonym: "AD-SPG9B" EXACT [Orphanet:447757] +synonym: "AD-SPG9B" EXACT ABBREVIATION [Orphanet:447757] xref: GARD:21866 {source="MONDO:GARD"} xref: ICD10CM:G11.4 {source="Orphanet:447757/attributed", source="Orphanet:447757/ntbt", source="Orphanet:447757"} xref: MEDGEN:1800402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -421208,8 +421291,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fibrosing cholangitis" EXACT [DOID:14268] synonym: "Primary sclerosing cholangitis" EXACT [NCIT:C4828] -synonym: "primary sclerosing cholangitis (PSC)" EXACT [NCIT:C4828] -synonym: "sclerosing cholangitis" EXACT [MONDO:ambiguous] +synonym: "primary sclerosing cholangitis (PSC)" EXACT [] +synonym: "sclerosing cholangitis" EXACT [DOID:14268, MONDO:ambiguous, NCIT:C4828, Orphanet:447771] synonym: "sclerosing cholangitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:14268 {source="EFO:0004268", source="MONDO:equivalentTo"} xref: EFO:0004268 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -421275,7 +421358,7 @@ name: obsolete cerebral visual impairment def: "OBSOLETE. A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information." [NCIT:C35275] subset: ordo_clinical_syndrome {source="Orphanet:447788"} subset: ordo_disorder {source="Orphanet:447788"} -synonym: "cortical visual impairment" EXACT [Orphanet:447788] +synonym: "cortical visual impairment" EXACT [] xref: ICD10CM:H47.6 {source="Orphanet:447788/ntbt", source="Orphanet:447788", source="MONDO:directSiblingOf"} xref: NCIT:C35275 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:447788 {source="MONDO:obsoleteEquivalent"} @@ -421321,8 +421404,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:447877"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Polymerase proofreading-related adenomatous polyposis" EXACT CLINGEN_LABEL [] -synonym: "PPAP" EXACT ABBREVIATION [Orphanet:447877] +synonym: "Polymerase proofreading-related adenomatous polyposis" EXACT CLINGEN_LABEL [Orphanet:447877] +synonym: "PPAP" EXACT ABBREVIATION [NCIT:C162484, Orphanet:447877] xref: GARD:17772 {source="MONDO:GARD"} xref: ICD10CM:D12.6 {source="Orphanet:447877", source="Orphanet:447877/attributed", source="Orphanet:447877/ntbt"} xref: MEDGEN:51342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -421390,8 +421473,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:447961"} subset: orphanet_rare {source="Orphanet:447961"} subset: rare -synonym: "CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA" RELATED [OMIM:618373] -synonym: "CAPOK" RELATED ABBREVIATION [OMIM:618373] +synonym: "CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA" RELATED [] +synonym: "CAPOK" RELATED ABBREVIATION [] xref: GARD:17776 {source="MONDO:GARD"} xref: MEDGEN:1807813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618373 {source="MONDO:equivalentTo"} @@ -421414,7 +421497,7 @@ subset: ordo_disorder {source="Orphanet:447980"} subset: ordo_malformation_syndrome {source="Orphanet:447980"} subset: orphanet_rare {source="Orphanet:447980"} subset: rare -synonym: "dup(19)(p13.13)" EXACT [Orphanet:447980] +synonym: "dup(19)(p13.13)" EXACT [] xref: GARD:21875 {source="MONDO:GARD"} xref: MEDGEN:1807189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:447980 {source="MONDO:equivalentTo"} @@ -421434,7 +421517,7 @@ subset: gard_rare {source="GARD:21876", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:447985"} subset: rare synonym: "partial duplication of chromosome 19p" EXACT [Orphanet:447985] -synonym: "partial duplication of the short arm of chromosome type 19" EXACT [MONDORULE:2, Orphanet:447985] +synonym: "partial duplication of the short arm of chromosome type 19" EXACT [MONDORULE:2] synonym: "partial trisomy of chromosome 19p" EXACT [Orphanet:447985] synonym: "partial trisomy of the short arm of chromosome 19" EXACT [Orphanet:447985] xref: GARD:21876 {source="MONDO:GARD"} @@ -421456,7 +421539,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:448"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hemophilia" EXACT CLINGEN_LABEL [] +synonym: "hemophilia" EXACT CLINGEN_LABEL [NCIT:C3093, Orphanet:448] xref: GARD:10418 {source="MONDO:GARD"} xref: MedDRA:10061992 {source="Orphanet:448", source="Orphanet:448/e"} xref: MEDGEN:146334 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -421481,11 +421564,11 @@ synonym: "congenital Zika syndrome" NARROW [MESH:D000071243] synonym: "congenital Zika virus infection" NARROW [MESH:D000071243] synonym: "fever, Zika" RELATED [MESH:D000071243] synonym: "Zika" EXACT [NCIT:C128423] -synonym: "Zika fever" RELATED [DOID:0060478, GARD:0012894] +synonym: "Zika fever" RELATED [GARD:0012894] synonym: "Zika virus caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Zika virus disease" EXACT [DOID:0060478, GARD:0012894] +synonym: "Zika virus disease" EXACT [DOID:0060478, GARD:0012894, ICD10CM:A92.5, icd11.foundation:1401438580, Orphanet:448237] synonym: "Zika virus disease or disorder" EXACT [] -synonym: "Zika virus infection" EXACT [Orphanet:448237] +synonym: "Zika virus infection" EXACT [ICD10CM:A92.5, icd11.foundation:1401438580, NCIT:C128423, Orphanet:448237] synonym: "Zika virus infectious disease" EXACT [] synonym: "ZikV infection" EXACT [MESH:D000071243] xref: DOID:0060478 {source="MONDO:equivalentTo"} @@ -421542,8 +421625,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:448267"} subset: orphanet_rare {source="Orphanet:448267"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Pelger-Huet anomaly with mild skeletal anomalies" EXACT [OMIM:618019, OMIM:genemap2] -synonym: "regressive spondylometaphyseal dysplasia" EXACT CLINGEN_LABEL [] +synonym: "Pelger-Huet anomaly with mild skeletal anomalies" EXACT [OMIM:618019] +synonym: "regressive spondylometaphyseal dysplasia" EXACT CLINGEN_LABEL [OMIM:618019, Orphanet:448267] xref: GARD:17782 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:448267/attributed", source="Orphanet:448267/ntbt", source="Orphanet:448267"} xref: MEDGEN:1648288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -421565,7 +421648,7 @@ subset: ordo_disorder {source="Orphanet:448270"} subset: ordo_morphological_anomaly {source="Orphanet:448270"} subset: orphanet_rare {source="Orphanet:448270"} subset: rare -synonym: "ectopia cordis" EXACT [MONDO:ambiguous] +synonym: "ectopia cordis" EXACT [icd11.foundation:285576893, MONDO:ambiguous, NCIT:C111643, Orphanet:448270] synonym: "ectopia cordis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:21877 {source="MONDO:GARD"} xref: HP:0001683 {source="MONDO:otherHierarchy"} @@ -421586,8 +421669,8 @@ property_value: IAO:0000589 "ectopia cordis (disease)" xsd:string id: MONDO:0018665 name: obsolete X-linked acrogigantism due to a point mutation subset: ordo_etiological_subtype {source="Orphanet:448348"} -synonym: "familial infantile gigantism due to a point mutation" EXACT [Orphanet:448348] -synonym: "X-LAG (X-linked acrogigantism) due to a point mutation" EXACT [Orphanet:448348] +synonym: "familial infantile gigantism due to a point mutation" EXACT [] +synonym: "X-LAG (X-linked acrogigantism) due to a point mutation" EXACT [] xref: ICD10CM:E22.0 {source="Orphanet:448348", source="Orphanet:448348/attributed", source="Orphanet:448348/ntbt"} xref: Orphanet:448348 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"} @@ -421605,8 +421688,8 @@ subset: ordo_disorder {source="Orphanet:449"} subset: orphanet_rare {source="Orphanet:449"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HBL" EXACT ABBREVIATION [DOID:687, NCIT:C3728] -synonym: "hepatoblastoma" EXACT [NCIT:C3728] +synonym: "HBL" EXACT ABBREVIATION [NCIT:C3728] +synonym: "hepatoblastoma" EXACT [DOID:687, icd11.foundation:1556608523, NCIT:C3728, Orphanet:449] synonym: "hepatoblastoma, malignant" EXACT [NCIT:C3728] synonym: "paediatric embryonal hepatoma" EXACT OMO:0003005 [] synonym: "paediatric hepatoblastoma" EXACT OMO:0003005 [] @@ -421644,15 +421727,15 @@ subset: orphanet_rare {source="Orphanet:449266"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "abscess of pleural cavity" EXACT [DOID:3798] -synonym: "abscess of thorax" RELATED [DOID:3798] -synonym: "empyema" RELATED [DOID:3798] +synonym: "abscess of thorax" RELATED [] +synonym: "empyema" RELATED [] synonym: "empyema of pleura" EXACT [DOID:3798] -synonym: "pleural empyema" EXACT [MONDO:ambiguous] +synonym: "pleural empyema" EXACT [DOID:3798, MONDO:ambiguous, Orphanet:449266] synonym: "pleural empyema (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "purulent pleurisy" RELATED [DOID:3798] -synonym: "purulent pleuritis" RELATED [DOID:3798] -synonym: "pyothorax" RELATED [DOID:3798] -synonym: "thorax abscess" RELATED [DOID:3798] +synonym: "purulent pleurisy" RELATED [] +synonym: "purulent pleuritis" RELATED [] +synonym: "pyothorax" RELATED [] +synonym: "thorax abscess" RELATED [] xref: DOID:3798 {source="MONDO:equivalentTo"} xref: EFO:0009680 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:21879 {source="MONDO:GARD"} @@ -421761,7 +421844,7 @@ subset: gard_rare {source="GARD:21883", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:449400"} subset: rare -synonym: "IgG4-related periaortitis" EXACT [Orphanet:449400] +synonym: "IgG4-related periaortitis" EXACT [] xref: GARD:21883 {source="MONDO:GARD"} xref: ICD10CM:I77.6 {source="Orphanet:449400/ntbt", source="Orphanet:449400"} xref: icd11.foundation:593151236 {source="MONDO:equivalentTo"} @@ -421803,7 +421886,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:449432"} subset: rare synonym: "chronic sclerosing sialadenitis" EXACT [NCIT:C82887] -synonym: "IgG4-related sialadenitis" EXACT [Orphanet:449432] +synonym: "IgG4-related sialadenitis" EXACT [] synonym: "Kuttner tumor" EXACT [NCIT:C82887] synonym: "Kuttner tumour" EXACT OMO:0003005 [] synonym: "Kuttner's tumor" EXACT [NCIT:C82887] @@ -421851,7 +421934,7 @@ subset: ordo_disorder {source="Orphanet:449566"} subset: orphanet_rare {source="Orphanet:449566"} subset: rare synonym: "EAF" RELATED ABBREVIATION [GARD:0002032] -synonym: "eosinophilic angiocentric fibrosis" EXACT [GARD:0002032] +synonym: "eosinophilic angiocentric fibrosis" EXACT [GARD:0002032, icd11.foundation:57609544, Orphanet:449566] synonym: "IgG4-related eosinophilic angiocentric fibrosis" EXACT [Orphanet:449566] synonym: "Sinonasal eosinophilic angiocentric fibrosis" RELATED [GARD:0002032] xref: GARD:21886 {source="MONDO:GARD"} @@ -421877,16 +421960,16 @@ subset: ordo_morphological_anomaly {source="Orphanet:157769"} subset: orphanet_rare {source="Orphanet:157769"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "heterotaxia" EXACT [DOID:0050545] -synonym: "heterotaxia syndrome" EXACT [NCIT:C117273] -synonym: "heterotaxy syndrome" EXACT [Orphanet:450] +synonym: "heterotaxia" EXACT [DOID:0050545, icd11.foundation:780273165, Orphanet:450] +synonym: "heterotaxia syndrome" EXACT [icd11.foundation:780273165, NCIT:C117273] +synonym: "heterotaxy syndrome" EXACT [icd11.foundation:780273165, NCIT:C117273, Orphanet:450] synonym: "heterotaxy, visceral" EXACT [OMIMPS:306955] synonym: "incomplete situs inversus" EXACT [Orphanet:157769] synonym: "lateralization defect" EXACT [Orphanet:450] synonym: "partial situs inversus" EXACT [Orphanet:157769] -synonym: "situs ambiguous" EXACT [Orphanet:157769] -synonym: "situs ambiguus" EXACT [DOID:0050545, MONDO:0015522] -synonym: "visceral heterotaxy" EXACT [Orphanet:450] +synonym: "situs ambiguous" EXACT [icd11.foundation:780273165, Orphanet:157769] +synonym: "situs ambiguus" EXACT [DOID:0050545, MONDO:0015522, Orphanet:157769] +synonym: "visceral heterotaxy" EXACT [DOID:0050545, icd11.foundation:780273165, Orphanet:450] xref: DOID:0050545 {source="MONDO:equivalentTo"} xref: GARD:10875 {source="MONDO:GARD"} xref: ICD10CM:Q89.3 {source="Orphanet:157769", source="Orphanet:450/nd", source="Orphanet:450", source="Orphanet:157769/attributed", source="Orphanet:157769/ntbt"} @@ -422020,7 +422103,7 @@ subset: ordo_disorder {source="Orphanet:454"} subset: orphanet_rare {source="Orphanet:454"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired ichthyosis" EXACT [NCIT:C112831] +synonym: "acquired ichthyosis" EXACT [ICD10CM:L85.0, icd11.foundation:1504032289, NCIT:C112831, Orphanet:454] synonym: "acquired ichthyosis (disease)" EXACT [MONDO:patterns/acquired] synonym: "fish scale disease, acquired" RELATED [GARD:0000476] synonym: "ichthyosis acquisita" EXACT [GARD:0000476, NCIT:C112831] @@ -422118,7 +422201,7 @@ subset: orphanet_rare {source="Orphanet:454706"} subset: rare synonym: "PMA" EXACT ABBREVIATION [Orphanet:454706] synonym: "progressive spinal muscular atrophy" EXACT [DOID:318] -synonym: "pure progressive muscular atrophy" RELATED [DOID:318] +synonym: "pure progressive muscular atrophy" RELATED [] xref: DOID:318 {source="MONDO:equivalentTo"} xref: GARD:21891 {source="MONDO:GARD"} xref: ICD10CM:G12.2 {source="Orphanet:454706/ntbt", source="Orphanet:454706"} @@ -422165,9 +422248,9 @@ synonym: "leukaemia plasmacytic" EXACT OMO:0003005 [] synonym: "leukemia plasmacytic" EXACT [NCIT:C3180] synonym: "leukemia, plasma cell" RELATED [GARD:0009373] synonym: "PCL" EXACT ABBREVIATION [Orphanet:454714] -synonym: "plasma cell leukemia" EXACT [NCIT:C3180] -synonym: "plasmacytic leukaemia" EXACT OMO:0003005 [] -synonym: "plasmacytic leukemia" EXACT [NCIT:C3180] +synonym: "plasma cell leukemia" EXACT [DOID:9513, NCIT:C3180, Orphanet:454714] +synonym: "plasmacytic leukaemia" EXACT OMO:0003005 [DOID:9513, icd11.foundation:2048216430] +synonym: "plasmacytic leukemia" EXACT [DOID:9513, NCIT:C3180] xref: DOID:9513 {source="MONDO:equivalentTo", source="EFO:0006475"} xref: EFO:0006475 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9373 {source="MONDO:GARD"} @@ -422205,15 +422288,15 @@ subset: ordo_disorder {source="Orphanet:454718"} subset: orphanet_rare {source="Orphanet:454718"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Adie pupil" EXACT [OMIM:103100] -synonym: "Adie Syndrome" EXACT [NORD:735] -synonym: "Adie syndrome" EXACT [MONDO:0007069, OMIM:103100, Orphanet:454718] +synonym: "Adie pupil" EXACT [NCIT:C34357, OMIM:103100] +synonym: "Adie Syndrome" EXACT [DOID:11549, NCIT:C34357, NORD:735, OMIM:103100, Orphanet:454718] +synonym: "Adie syndrome" EXACT [DOID:11549, MONDO:0007069, NCIT:C34357, OMIM:103100, Orphanet:454718] synonym: "Adie's pupil" EXACT [GARD:0005749] synonym: "Adie's pupil or syndrome" EXACT [DOID:11549] synonym: "Adie's pupil syndrome" EXACT [DOID:11549] synonym: "Adie's syndrome" EXACT [DOID:11549] -synonym: "Holmes-Adie syndrome" EXACT [DOID:11549, NCIT:C34357, OMIM:103100] -synonym: "poorly Reacting pupils" RELATED [OMIM:103100] +synonym: "Holmes-Adie syndrome" EXACT [DOID:11549, NCIT:C34357, Orphanet:454718] +synonym: "poorly Reacting pupils" RELATED [] synonym: "tonic pupil" EXACT [NCIT:C34357] synonym: "tonic pupil-tendon areflexia syndrome" EXACT [Orphanet:454718] synonym: "tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes" RELATED [GARD:0005749] @@ -422275,7 +422358,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:454750"} subset: orphanet_rare {source="Orphanet:454750"} subset: rare synonym: "H-type tracheoesophageal fistula" EXACT [Orphanet:454750] -synonym: "isolated tracheoesophageal fistula" RELATED [Orphanet:454750] +synonym: "isolated tracheoesophageal fistula" RELATED [] synonym: "tracheo-esophageal fistula" EXACT [NCIT:C35080] synonym: "tracheoesophageal fistula" EXACT [NCIT:C35080] xref: GARD:21895 {source="MONDO:GARD"} @@ -422422,7 +422505,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:457077"} subset: orphanet_rare {source="Orphanet:457077"} subset: rare -synonym: "TAFRO syndrome" EXACT [PMID:23801135] +synonym: "TAFRO syndrome" EXACT [Orphanet:457077, PMID:23801135] synonym: "thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome" EXACT [Orphanet:457077] xref: GARD:21902 {source="MONDO:GARD"} xref: ICD10CM:M35.8 {source="Orphanet:457077/ntbt", source="Orphanet:457077"} @@ -422499,8 +422582,8 @@ id: MONDO:0018708 name: squamous cell carcinoma of the oral tongue subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "oral tongue squamous cell carcinoma" EXACT [Orphanet:457252] -synonym: "OTSCC" EXACT ABBREVIATION [Orphanet:457252] +synonym: "oral tongue squamous cell carcinoma" EXACT [] +synonym: "OTSCC" EXACT ABBREVIATION [] xref: ICD10CM:C02.0 {source="Orphanet:457252", source="Orphanet:457252/btnt"} xref: ICD10CM:C02.1 {source="Orphanet:457252", source="Orphanet:457252/btnt"} xref: ICD10CM:C02.2 {source="Orphanet:457252", source="Orphanet:457252/btnt"} @@ -422571,7 +422654,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:458758"} subset: orphanet_rare {source="Orphanet:458758"} subset: rare -synonym: "composite hemangioendothelioma" EXACT [NCIT:C45475] +synonym: "composite hemangioendothelioma" EXACT [NCIT:C45475, Orphanet:458758] xref: GARD:21907 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:458758/ntbt", source="Orphanet:458758"} xref: MEDGEN:220987 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -422592,7 +422675,7 @@ subset: ordo_disorder {source="Orphanet:458763"} subset: orphanet_rare {source="Orphanet:458763"} subset: rare synonym: "hobnail hemangioendothelioma" EXACT [NCIT:C27511] -synonym: "retiform hemangioendothelioma" EXACT [NCIT:C27511] +synonym: "retiform hemangioendothelioma" EXACT [NCIT:C27511, Orphanet:458763] xref: GARD:21908 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:458763/ntbt", source="Orphanet:458763"} xref: MEDGEN:266274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -422616,8 +422699,9 @@ synonym: "Dabska tumor" EXACT [NCIT:C7526, Orphanet:458768] synonym: "Dabska tumour" EXACT OMO:0003005 [] synonym: "malignant endothelial papillary angioendothelioma" EXACT [NCIT:C7526] synonym: "papillary Endovascular angioendothelioma" EXACT [NCIT:C7526] -synonym: "papillary intralymphatic angioendothelioma" EXACT [NCIT:C7526] -synonym: "pila" EXACT [NCIT:C7526] +synonym: "papillary intralymphatic angioendothelioma" EXACT [NCIT:C7526, Orphanet:458768] +synonym: "PILA" EXACT ABBREVIATION [NCIT:C7526, Orphanet:458768] +synonym: "pila" EXACT [] xref: GARD:21909 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:458768/ntbt", source="Orphanet:458768"} xref: ICDO:9135/1 {source="NCIT:C7526"} @@ -422638,8 +422722,8 @@ subset: gard_rare {source="GARD:21910", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:458775"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital angioma" RELATED [NCIT:C3841] -synonym: "congenital hemangioma" EXACT [NCIT:C3841] +synonym: "congenital angioma" RELATED [] +synonym: "congenital hemangioma" EXACT [NCIT:C3841, Orphanet:458775] xref: GARD:21910 {source="MONDO:GARD"} xref: MEDGEN:65912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3841 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -422659,7 +422743,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:458785"} subset: orphanet_rare {source="Orphanet:458785"} subset: rare -synonym: "PICH" EXACT ABBREVIATION [https://doi.org/10.1016/j.jaad.2013.09.018] +synonym: "PICH" EXACT ABBREVIATION [https://doi.org/10.1016/j.jaad.2013.09.018, NCIT:C172209] xref: GARD:21911 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:458785/ntbt", source="Orphanet:458785"} xref: MEDGEN:1672492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -422828,7 +422912,7 @@ def: "OBSOLETE. An instance of rare vascular tumor that is caused by a modificat subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:459543"} synonym: "genetic rare vascular tumor" EXACT [MONDO:patterns/genetic] -synonym: "rare genetic vascular tumor" EXACT [Orphanet:459543] +synonym: "rare genetic vascular tumor" EXACT [] xref: Orphanet:459543 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -422883,8 +422967,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:464318"} subset: orphanet_rare {source="Orphanet:464318"} subset: rare -synonym: "verrucous keratotic hemangioma" EXACT [MONDO:0003106, NCIT:C4299] -synonym: "verrucous keratotic hemangioma (morphologic abnormality)" EXACT [DOID:470] +synonym: "verrucous keratotic hemangioma" EXACT [DOID:470, MONDO:0003106, NCIT:C4299] +synonym: "verrucous keratotic hemangioma (morphologic abnormality)" EXACT [] xref: DOID:470 {source="MONDO:equivalentTo"} xref: GARD:21927 {source="MONDO:GARD"} xref: ICD10CM:D18.0 {source="Orphanet:464318/ntbt", source="Orphanet:464318"} @@ -422910,9 +422994,9 @@ subset: rare synonym: "cutaneovisceral angiomatosis-thrombocytopenia syndrome" EXACT [Orphanet:464321] synonym: "DKFZp434L132" EXACT [NCIT:C60672] synonym: "MALT1 wt allele" EXACT [NCIT:C60672] -synonym: "MLT" EXACT ABBREVIATION [Orphanet:464321] +synonym: "MLT" EXACT ABBREVIATION [NCIT:C60672, Orphanet:464321] synonym: "MLT1" EXACT ABBREVIATION [NCIT:C60672] -synonym: "mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele" EXACT [NCIT:C60672] +synonym: "mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele" EXACT [] synonym: "multifocal lymphangioendotheliomatosis with thrombocytopenia" EXACT [Orphanet:464321] xref: GARD:10467 {source="MONDO:GARD"} xref: ICD10CM:D18.1 {source="Orphanet:464321/ntbt", source="Orphanet:464321"} @@ -422950,7 +423034,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:464343"} subset: orphanet_rare {source="Orphanet:464343"} subset: rare -synonym: "caps" EXACT [Orphanet:464343] +synonym: "CAPS" EXACT ABBREVIATION [Orphanet:464343] +synonym: "caps" EXACT [] synonym: "catastrophic APS" EXACT [Orphanet:464343] xref: GARD:9820 {source="MONDO:GARD"} xref: ICD10CM:D68.6 {source="Orphanet:464343/ntbt", source="Orphanet:464343"} @@ -423009,7 +423094,7 @@ subset: ordo_disorder {source="Orphanet:464453"} subset: orphanet_rare {source="Orphanet:464453"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired methemoglobinemia" BROAD [MONDO:patterns/acquired, Orphanet:464453] +synonym: "acquired methemoglobinemia" BROAD [MONDO:patterns/acquired] synonym: "drug induced methemoglobinemia" EXACT [NCIT:C101045] xref: GARD:21930 {source="MONDO:GARD"} xref: ICD10CM:D74.8 {source="Orphanet:464453/ntbt", source="Orphanet:464453"} @@ -423078,7 +423163,7 @@ subset: ordo_group_of_disorders {source="Orphanet:46484"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "oligodendroglial neoplasm" EXACT [NCIT:C6960] -synonym: "oligodendroglial tumor" EXACT [NCIT:C6960] +synonym: "oligodendroglial tumor" EXACT [NCIT:C6960, Orphanet:46484] xref: GARD:13156 {source="MONDO:GARD"} xref: MEDGEN:233266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6960 {source="MONDO:equivalentTo"} @@ -423113,15 +423198,15 @@ subset: orphanet_rare {source="Orphanet:46486"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign mucosal pemphigoid" RELATED [GARD:0005913] -synonym: "benign mucous Membrane pemphigoid" EXACT [NCIT:C34907] -synonym: "benign mucous membrane pemphigoid" RELATED [DOID:11656, GARD:0005913] -synonym: "benign mucous membrane pemphigoid with ocular involvement" RELATED [DOID:11656, ICD9CM:694.61] -synonym: "cicatricial pemphigoid" EXACT [MONDO:0006535, Orphanet:46486] -synonym: "cicatricial pemphigoid with ocular involvement" RELATED [DOID:11656] +synonym: "benign mucous Membrane pemphigoid" EXACT [DOID:11656, NCIT:C34907] +synonym: "benign mucous membrane pemphigoid" RELATED [GARD:0005913] +synonym: "benign mucous membrane pemphigoid with ocular involvement" RELATED [ICD9CM:694.61] +synonym: "cicatricial pemphigoid" EXACT [DOID:11656, icd11.foundation:1456138933, MONDO:0006535, Orphanet:46486] +synonym: "cicatricial pemphigoid with ocular involvement" RELATED [] synonym: "mucosal pemphigoid" EXACT [Orphanet:46486] synonym: "Mucosynechial pemphigoid" EXACT [Orphanet:46486] -synonym: "ocular pemphigoid" RELATED [DOID:11656, SCTID:34250006] -synonym: "ocular pemphigus" RELATED [DOID:11656] +synonym: "ocular pemphigoid" RELATED [SCTID:34250006] +synonym: "ocular pemphigus" RELATED [] xref: DOID:11656 {source="EFO:1000680", source="MONDO:equivalentTo"} xref: EFO:1000680 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5913 {source="MONDO:GARD"} @@ -423155,10 +423240,10 @@ subset: ordo_disorder {source="Orphanet:46487"} subset: orphanet_rare {source="Orphanet:46487"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired epidermolysis bullosa" EXACT [DOID:4313, GARD:0006360, MONDO:patterns/acquired] +synonym: "acquired epidermolysis bullosa" EXACT [DOID:4313, GARD:0006360, ICD10CM:L12.3, icd11.foundation:2034586329, MONDO:patterns/acquired, Orphanet:46487] synonym: "EB acquisita" RELATED [GARD:0006360] synonym: "EBA" EXACT ABBREVIATION [GARD:0006360, NCIT:C84690] -synonym: "epidermolysis bullosa acquisita" EXACT [MONDO:0006542, NCIT:C84690, Orphanet:46487] +synonym: "epidermolysis bullosa acquisita" EXACT [DOID:4313, icd11.foundation:2034586329, MONDO:0006542, NCIT:C84690, Orphanet:46487] synonym: "epidermolysis bullosa Aquisita" EXACT [NCIT:C84690] xref: DOID:4313 {source="EFO:1000691", source="MONDO:equivalentTo"} xref: EFO:1000691 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -423245,7 +423330,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:21935", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:466084"} subset: rare -synonym: "genetic otorhinolaryngologic disease" EXACT [MONDO:patterns/genetic] +synonym: "genetic otorhinolaryngologic disease" EXACT [MONDO:patterns/genetic, Orphanet:466084] xref: GARD:21935 {source="MONDO:GARD"} xref: MEDGEN:1842579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:466084 {source="MONDO:equivalentTo"} @@ -423389,7 +423474,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:466943"} subset: orphanet_rare {source="Orphanet:466943"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" EXACT [Orphanet:466943] +synonym: "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" EXACT [DOID:0081126, Orphanet:466943] xref: DOID:0081126 {source="MONDO:equivalentTo"} xref: GARD:17838 {source="MONDO:GARD"} xref: MEDGEN:908218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -423526,11 +423611,11 @@ subset: rare synonym: "fish malodor syndrome" RELATED [GARD:0006447] synonym: "fish odor syndrome" RELATED [GARD:0006447] synonym: "fish odour syndrome" RELATED OMO:0003005 [] -synonym: "fish-odor syndrome" RELATED [OMIM:602079] +synonym: "fish-odor syndrome" RELATED [] synonym: "stale fish syndrome" RELATED [GARD:0006447] -synonym: "TMAU" RELATED ABBREVIATION [MONDO:Lexical, OMIM:602079] +synonym: "TMAU" RELATED ABBREVIATION [MONDO:Lexical] synonym: "TMAuria" RELATED [GARD:0006447] -synonym: "trimethylaminuria" BROAD [OMIM:602079, OMIM:genemap2] +synonym: "trimethylaminuria" BROAD [] xref: DOID:0080361 {source="MONDO:equivalentTo"} xref: GARD:6447 {source="MONDO:GARD"} xref: HP:0003614 {source="MONDO:otherHierarchy"} @@ -423560,10 +423645,10 @@ subset: ordo_disorder {source="Orphanet:47045"} subset: orphanet_rare {source="Orphanet:47045"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial cold autoinflammatory syndrome" EXACT [Orphanet:47045] -synonym: "familial cold urticaria" RELATED [Orphanet:47045] +synonym: "familial cold autoinflammatory syndrome" EXACT [DOID:0090061, icd11.foundation:1932140025, NCIT:C119053, OMIMPS:120100, Orphanet:47045] +synonym: "familial cold urticaria" RELATED [] synonym: "familial polymorphous cold eruption" RELATED [GARD:0009535] -synonym: "FCAS" EXACT ABBREVIATION [Orphanet:47045] +synonym: "FCAS" EXACT ABBREVIATION [DOID:0090061, NCIT:C119053, Orphanet:47045] synonym: "FCU" EXACT ABBREVIATION [Orphanet:47045] xref: DOID:0090061 {source="MONDO:equivalentTo"} xref: GARD:9535 {source="MONDO:GARD"} @@ -423597,9 +423682,9 @@ subset: rare synonym: "Cystoisospora belli caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cystoisospora belli disease or disorder" EXACT [] synonym: "Cystoisospora belli infectious disease" EXACT [] -synonym: "cystoisosporiasis" EXACT [MONDO:0005727, Orphanet:472] -synonym: "infection by Isospora belli and Isospora hominis" RELATED [DOID:2112] -synonym: "Isosporosis" EXACT [DOID:2112] +synonym: "cystoisosporiasis" EXACT [DOID:2112, icd11.foundation:137713224, MONDO:0005727, NCIT:C4076, Orphanet:472] +synonym: "infection by Isospora belli and Isospora hominis" RELATED [] +synonym: "Isosporosis" EXACT [DOID:2112, ICD10CM:A07.3] xref: DOID:2112 {source="MONDO:equivalentTo", source="EFO:0007232"} xref: EFO:0007232 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:3033 {source="MONDO:GARD"} @@ -423631,15 +423716,15 @@ subset: ordo_malformation_syndrome {source="Orphanet:474"} subset: orphanet_rare {source="Orphanet:474"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Asphyxiating Thoracic Dystrophy" EXACT [NORD:1074] -synonym: "asphyxiating thoracic dystrophy" RELATED [DOID:0050592] -synonym: "asphyxiating thoracic dystrophy of the newborn" EXACT [Orphanet:474] +synonym: "Asphyxiating Thoracic Dystrophy" EXACT [DOID:0050592, icd11.foundation:554018956, NCIT:C84794, NORD:1074] +synonym: "asphyxiating thoracic dystrophy" RELATED [] +synonym: "asphyxiating thoracic dystrophy of the newborn" EXACT [icd11.foundation:554018956, Orphanet:474] synonym: "ATD" RELATED ABBREVIATION [GARD:0003049] synonym: "Chondroectodermal dysplasia-like syndrome" RELATED [GARD:0003049] synonym: "infantile thoracic dystrophy" RELATED [GARD:0003049] synonym: "JATD" EXACT ABBREVIATION [Orphanet:474] synonym: "Jeune asphyxiating thoracic dystrophy" EXACT [Orphanet:474] -synonym: "Jeune syndrome" EXACT [DOID:0050592] +synonym: "Jeune syndrome" EXACT [DOID:0050592, icd11.foundation:554018956, NCIT:C84794, Orphanet:474] synonym: "Jeune's syndrome" RELATED [GARD:0003049] synonym: "short-rib thoracic dysplasia" EXACT [OMIMPS:208500] synonym: "short-rib thoracic dysplasia with or without polydactyly" EXACT [DOID:0050592] @@ -423669,11 +423754,11 @@ id: MONDO:0018771 name: obsolete congenital anomaly of ventricular septum def: "OBSOLETE. A congenital heart malformation that involves the interventricular septum." [MONDO:patterns/location] subset: ordo_group_of_disorders {source="Orphanet:474347"} -synonym: "congenital anomaly of interventricular communication" EXACT [Orphanet:474347] +synonym: "congenital anomaly of interventricular communication" EXACT [] synonym: "congenital heart malformation of interventricular septum" EXACT [MONDO:design_pattern] -synonym: "congenital ventricular septal anomaly" EXACT [Orphanet:474347] +synonym: "congenital ventricular septal anomaly" EXACT [] synonym: "interventricular septum congenital heart malformation" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "rare congenital anomaly of ventricular septum" RELATED [Orphanet:474347] +synonym: "rare congenital anomaly of ventricular septum" RELATED [] xref: Orphanet:474347 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI @@ -423698,7 +423783,7 @@ synonym: "cerebelloparenchymal disorder IV" EXACT [Orphanet:475] synonym: "classic Joubert syndrome" EXACT [Orphanet:475] synonym: "CPD IV" EXACT [Orphanet:475] synonym: "JBTS" EXACT ABBREVIATION [DOID:0050777] -synonym: "Joubert syndrome" EXACT CLINGEN_LABEL [] +synonym: "Joubert syndrome" EXACT CLINGEN_LABEL [DOID:0050777, icd11.foundation:1414756318, NCIT:C74996, OMIMPS:213300, Orphanet:475] synonym: "Joubert syndrome type A" EXACT [Orphanet:475] synonym: "Joubert-Boltshauser syndrome" EXACT [Orphanet:475] synonym: "pure Joubert syndrome" EXACT [Orphanet:475] @@ -423754,7 +423839,7 @@ name: obsolete axonal hereditary motor and sensory neuropathy subset: clingen {source="MONDO:CLINGEN"} subset: ordo_group_of_disorders {source="Orphanet:476109"} subset: otar {source="MONDO:OTAR"} -synonym: "axonal HMSN" EXACT [Orphanet:476109] +synonym: "axonal HMSN" EXACT [] xref: Orphanet:476109 {source="MONDO:obsoleteEquivalent"} relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0018775 {source="MONDO:CLINGEN"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -423772,7 +423857,7 @@ subset: gard_rare {source="GARD:21952", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:476116"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "demyelinating hereditary motor and sensory neuropathy" EXACT CLINGEN_LABEL [] +synonym: "demyelinating hereditary motor and sensory neuropathy" EXACT CLINGEN_LABEL [Orphanet:476116] synonym: "demyelinating HMSN" EXACT [Orphanet:476116] xref: GARD:21952 {source="MONDO:GARD"} xref: MEDGEN:1843348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -423806,9 +423891,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:476123"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Charcot-Marie-Tooth disease dominant intermediate" NARROW [DOID:0050543] -synonym: "Charcot-Marie-Tooth disease intermediate type" EXACT [MONDO:0000350] -synonym: "Charcot-Marie-Tooth disease recessive intermediate" NARROW [DOID:0050543] +synonym: "Charcot-Marie-Tooth disease dominant intermediate" NARROW [] +synonym: "Charcot-Marie-Tooth disease intermediate type" EXACT [DOID:0050543, MONDO:0000350] +synonym: "Charcot-Marie-Tooth disease recessive intermediate" NARROW [] synonym: "Intermediate hereditary motor and sensory neuropathy" EXACT [Orphanet:476123] xref: DOID:0050543 {source="MONDO:equivalentTo"} xref: GARD:21954 {source="MONDO:GARD"} @@ -423970,7 +424055,7 @@ id: MONDO:0018788 name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease subset: ordo_group_of_disorders {source="Orphanet:477759"} subset: otar {source="MONDO:OTAR"} -synonym: "COL4A1 or COL4A2-related cerebral angiopathy" EXACT [Orphanet:477759] +synonym: "COL4A1 or COL4A2-related cerebral angiopathy" EXACT [] xref: Orphanet:477759 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -423983,7 +424068,7 @@ id: MONDO:0018789 name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' subset: ordo_group_of_disorders {source="Orphanet:477762"} -synonym: "COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency" EXACT [Orphanet:477762] +synonym: "COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency" EXACT [] xref: Orphanet:477762 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -423995,7 +424080,7 @@ id: MONDO:0018790 name: obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' subset: ordo_group_of_disorders {source="Orphanet:477765"} -synonym: "COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency" EXACT [Orphanet:477765] +synonym: "COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency" EXACT [] xref: Orphanet:477765 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -424020,7 +424105,7 @@ name: obsolete Moyamoya syndrome comment: Redundant with moyamoya disease, and the children were incorrectly classified as moyamoya syndrome, as they only had features of moyamoya angiopathy. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:477771"} -synonym: "rare disorder with a Moyamoya angiopathy" RELATED [Orphanet:477771] +synonym: "rare disorder with a Moyamoya angiopathy" RELATED [] xref: Orphanet:477771 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1767" xsd:anyURI is_obsolete: true @@ -424052,10 +424137,10 @@ subset: ordo_disorder {source="Orphanet:477787"} subset: orphanet_rare {source="Orphanet:477787"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" EXACT CLINGEN_LABEL [] -synonym: "GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS" RELATED [OMIM:618372] -synonym: "GURDP" RELATED ABBREVIATION [OMIM:618372] -synonym: "Phospholipase A2, Group Iva, Deficiency of" RELATED [OMIM:618372] +synonym: "cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" EXACT CLINGEN_LABEL [Orphanet:477787] +synonym: "GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS" RELATED [] +synonym: "GURDP" RELATED ABBREVIATION [] +synonym: "Phospholipase A2, Group Iva, Deficiency of" RELATED [] synonym: "PLA2G4A-related platelet dysfunction" EXACT [Orphanet:477787] synonym: "platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency" EXACT [Orphanet:477787] xref: GARD:17857 {source="MONDO:GARD"} @@ -424092,8 +424177,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0018796 name: obsolete isolated constitutional thrombocytopenia subset: ordo_group_of_disorders {source="Orphanet:477797"} -synonym: "Cconstitutional thrombocytopenia without extra-hematopoietic manifestation" EXACT [Orphanet:477797] -synonym: "non-syndromic constitutional thrombocytopenia" EXACT [Orphanet:477797] +synonym: "Cconstitutional thrombocytopenia without extra-hematopoietic manifestation" EXACT [] +synonym: "non-syndromic constitutional thrombocytopenia" EXACT [] xref: Orphanet:477797 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -424180,8 +424265,8 @@ subset: ordo_morphological_anomaly {source="Orphanet:48"} subset: orphanet_rare {source="Orphanet:48"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital bilateral agenesis of vas deferens" EXACT [Orphanet:48] -synonym: "congenital bilateral aplasia of vas deferens" EXACT [Orphanet:48] +synonym: "congenital bilateral agenesis of vas deferens" EXACT [DOID:0111862, Orphanet:48] +synonym: "congenital bilateral aplasia of vas deferens" EXACT [DOID:0111862, Orphanet:48] xref: DOID:0111862 {source="MONDO:equivalentTo"} xref: GARD:5461 {source="MONDO:GARD"} xref: ICD10CM:Q55.4 {source="Orphanet:48", source="Orphanet:48/attributed", source="Orphanet:48/ntbt"} @@ -424227,7 +424312,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:480501"} subset: orphanet_rare {source="Orphanet:480501"} subset: rare synonym: "bile duct cysts" EXACT [OMIM:603003] -synonym: "choledochal cyst" EXACT [Orphanet:480501] +synonym: "choledochal cyst" EXACT [DOID:899, ICD10CM:Q44.4, icd11.foundation:819487805, Orphanet:480501] synonym: "choledochal cysts" EXACT [OMIM:603003] synonym: "choledochocele" EXACT [OMIM:603003] synonym: "congenital choledochal cyst" EXACT [DOID:899] @@ -424426,7 +424511,7 @@ subset: orphanet_rare {source="Orphanet:480553"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ABC" EXACT ABBREVIATION [NCIT:C3516] -synonym: "aneurysmal bone cyst" EXACT [MONDO:ambiguous] +synonym: "aneurysmal bone cyst" EXACT [icd11.foundation:1603788294, MONDO:ambiguous, NCIT:C3516, Orphanet:480553] synonym: "aneurysmal bone cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "aneurysmal bone cysts" EXACT [OMIM:606179] synonym: "aneurysmal cyst of bone" EXACT [NCIT:C3516] @@ -424457,8 +424542,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:480556"} subset: orphanet_rare {source="Orphanet:480556"} subset: rare -synonym: "NSC" RELATED ABBREVIATION [OMIM:617394] -synonym: "sclerosing cholangitis, neonatal" RELATED [OMIM:617394] +synonym: "NSC" RELATED ABBREVIATION [] +synonym: "sclerosing cholangitis, neonatal" RELATED [] xref: GARD:21983 {source="MONDO:GARD"} xref: MEDGEN:1393230 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617394 {source="MONDO:equivalentTo"} @@ -424478,7 +424563,7 @@ subset: ordo_disorder {source="Orphanet:480701"} subset: orphanet_rare {source="Orphanet:480701"} subset: rare synonym: "facial diplegia with paresthesias variant of GBS" EXACT [Orphanet:480701] -synonym: "facial diplegia with paresthesias variant of Guillain-Barre syndrome" EXACT [Orphanet:480701] +synonym: "facial diplegia with paresthesias variant of Guillain-Barre syndrome" EXACT [] synonym: "facial diplegia with paresthesias variant of Guillain-Barré syndrome" EXACT [Orphanet:480701] xref: GARD:21984 {source="MONDO:GARD"} xref: MEDGEN:1798949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -424506,8 +424591,8 @@ subset: orphanet_rare {source="Orphanet:480864"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MECRCN" EXACT ABBREVIATION [OMIM:616878] -synonym: "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" EXACT [OMIM:616878] -synonym: "TANGO2 deficiency" EXACT [PMID:31339582] +synonym: "metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" EXACT [DOID:0081386] +synonym: "TANGO2 deficiency" EXACT [DOID:0081386, PMID:31339582] synonym: "TANGO2 Deficiency Disorder" EXACT [NORD:1944] synonym: "transport and golgi organisation protein 2 (TANGO2) deficiency" EXACT OMO:0003005 [] synonym: "transport and golgi organization protein 2 (TANGO2) deficiency" EXACT [PMID:31339582] @@ -424535,7 +424620,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:480880"} subset: orphanet_rare {source="Orphanet:480880"} subset: rare synonym: "X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females" EXACT [Orphanet:480880] -synonym: "X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females" EXACT [Orphanet:480880] +synonym: "X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females" EXACT [] xref: GARD:13638 {source="MONDO:GARD"} xref: MEDGEN:1798946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:480880 {source="MONDO:equivalentTo"} @@ -424679,8 +424764,8 @@ subset: ordo_disorder {source="Orphanet:481665"} subset: orphanet_rare {source="Orphanet:481665"} subset: rare synonym: "pseudo-TORCH syndrome 2" EXACT [OMIM:617397] -synonym: "PTORCH2" RELATED ABBREVIATION [OMIM:617397] -synonym: "USP18 deficiency" RELATED [Orphanet:481665] +synonym: "PTORCH2" RELATED ABBREVIATION [] +synonym: "USP18 deficiency" RELATED [] xref: GARD:17875 {source="MONDO:GARD"} xref: MEDGEN:1373355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617397 {source="MONDO:equivalentTo", source="Orphanet:481665"} @@ -424705,7 +424790,7 @@ subset: ordo_etiological_subtype {source="Orphanet:481986"} subset: ordo_subtype_of_a_disorder {source="Orphanet:481986"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial schizencephaly" EXACT [GARD:0000166] +synonym: "familial schizencephaly" EXACT [GARD:0000166, Orphanet:481986] synonym: "hereditary schizencephaly" EXACT [MONDO:patterns/hereditary] xref: GARD:17876 {source="MONDO:GARD"} xref: MEDGEN:419186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -424763,7 +424848,7 @@ id: MONDO:0018831 name: obsolete HTRA1-related cerebral small vessel disease subset: ordo_group_of_disorders {source="Orphanet:482072"} subset: otar {source="MONDO:OTAR"} -synonym: "HTRA1-related cerebral angiopathy" EXACT [Orphanet:482072] +synonym: "HTRA1-related cerebral angiopathy" EXACT [] xref: Orphanet:482072 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -424873,8 +424958,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Broad gyri of cerebrum" RELATED [GARD:0007300] synonym: "large gyri of cerebrum" RELATED [GARD:0007300] -synonym: "Lissencephaly" EXACT [NORD:1374] -synonym: "lissencephaly" EXACT [MONDO:ambiguous] +synonym: "Lissencephaly" EXACT [DOID:0050453, NCIT:C103921, NORD:1374, OMIMPS:607432, Orphanet:48471] +synonym: "lissencephaly" EXACT [DOID:0050453, MONDO:ambiguous, NCIT:C103921, OMIMPS:607432, Orphanet:48471] synonym: "lissencephaly (disease)" EXACT [https://github.com/monarch-initiative/mondo/issues/1312] synonym: "lissencephaly spectrum disorders" EXACT CLINGEN_LABEL [] synonym: "macrogyria" RELATED [GARD:0007300] @@ -424915,7 +425000,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype {source="Orphanet:485275"} subset: ordo_subtype_of_a_disorder {source="Orphanet:485275"} subset: rare -synonym: "acquired schizencephaly" EXACT [MONDO:patterns/acquired] +synonym: "acquired schizencephaly" EXACT [MONDO:patterns/acquired, Orphanet:485275] xref: GARD:17879 {source="MONDO:GARD"} xref: MEDGEN:1825983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:485275 {source="MONDO:equivalentTo"} @@ -424934,9 +425019,9 @@ subset: ordo_disorder {source="Orphanet:485426"} subset: orphanet_rare {source="Orphanet:485426"} subset: rare synonym: "congenital fibrose liver" RELATED [MESH:C562378] -synonym: "Congenital Hepatic Fibrosis" EXACT [NORD:1225] +synonym: "Congenital Hepatic Fibrosis" EXACT [NCIT:C97071, NORD:1225] synonym: "congenital hepatic fibrosis" EXACT [MESH:C562378, NCIT:C97071] -synonym: "isolated CHF" BROAD AMBIGUOUS [Orphanet:485426] +synonym: "isolated CHF" BROAD AMBIGUOUS [] synonym: "nonsyndromic congenital hepatic fibrosis" EXACT [MONDO:patterns/isolated] xref: GARD:21995 {source="MONDO:GARD"} xref: ICD9:777.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -424962,11 +425047,11 @@ subset: gard_rare {source="GARD:21996", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:485631"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" RELATED EXCLUDE [DOID:0050674] +synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" RELATED EXCLUDE [] synonym: "BASD" EXACT ABBREVIATION [Orphanet:485631] synonym: "bile acid synthesis defect, congenital" EXACT [OMIMPS:607765] synonym: "CBA" EXACT ABBREVIATION [DOID:0050674] -synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" NARROW [DOID:0050674] +synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" NARROW [] xref: DOID:0050674 {source="MONDO:equivalentTo"} xref: EFO:0009039 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:21996 {source="MONDO:GARD"} @@ -424989,9 +425074,9 @@ subset: orphanet_rare {source="Orphanet:48686"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AIDS-related lymphoma" RELATED [GARD:0009247] -synonym: "body cavity-based lymphoma" EXACT [NCIT:C6915, Orphanet:48686] +synonym: "body cavity-based lymphoma" EXACT [Orphanet:48686] synonym: "PEL" EXACT ABBREVIATION [NCIT:C6915, ONCOTREE:PEL, Orphanet:48686] -synonym: "primary Effusion Lymphoma" EXACT [MONDO:0006384, NCIT:C6915] +synonym: "primary Effusion Lymphoma" EXACT [icd11.foundation:697911710, MONDO:0006384, NCIT:C6915, Orphanet:48686] xref: EFO:1000491 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9247 {source="MONDO:GARD"} xref: ICD10CM:C83.8 {source="Orphanet:48686/ntbt", source="Orphanet:48686"} @@ -425021,10 +425106,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:48736"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "central nervous system embryonal carcinoma" EXACT [MONDO:0004154, MONDO:patterns/location, NCIT:C7010] +synonym: "central nervous system embryonal carcinoma" EXACT [DOID:7232, MONDO:0004154, MONDO:patterns/location, NCIT:C7010] synonym: "embryonal carcinoma" RELATED [ONCOTREE:BEC] synonym: "embryonal carcinoma of CNS" EXACT [DOID:7232, NCIT:C7010] -synonym: "embryonal carcinoma of the central nervous system" EXACT [DOID:7232, NCIT:C7010] +synonym: "embryonal carcinoma of the central nervous system" EXACT [NCIT:C7010, Orphanet:48736] synonym: "embryonal carcinoma of the CNS" EXACT [Orphanet:48736] xref: DOID:7232 {source="MONDO:equivalentTo"} xref: GARD:18836 {source="MONDO:GARD"} @@ -425052,7 +425137,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:488"} subset: orphanet_rare {source="Orphanet:488"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "urachal cyst" EXACT [MONDO:ambiguous] +synonym: "urachal cyst" EXACT [icd11.foundation:1125432593, MONDO:ambiguous, NCIT:C85216, Orphanet:488] synonym: "urachal cyst (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:5425 {source="MONDO:GARD"} xref: HP:0012618 {source="MONDO:otherHierarchy"} @@ -425147,7 +425232,7 @@ subset: rare synonym: "idiopathic retroperitoneal fibrosis" EXACT [Orphanet:49041] synonym: "Ormond disease" EXACT [Orphanet:49041] synonym: "Ormond's disease" RELATED [GARD:0009568] -synonym: "Retroperitoneal Fibrosis" EXACT [NORD:1665] +synonym: "Retroperitoneal Fibrosis" EXACT [NCIT:C26876, NORD:1665] synonym: "retroperitoneal fibrosis" EXACT [GARD:0009568, NCIT:C26876] xref: GARD:9568 {source="MONDO:GARD"} xref: ICD10CM:N13.5 {source="Orphanet:49041/ntbt", source="Orphanet:49041"} @@ -425174,7 +425259,7 @@ subset: ordo_disorder {source="Orphanet:49042"} subset: orphanet_rare {source="Orphanet:49042"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dentinogenesis imperfecta" EXACT CLINGEN_LABEL [MONDO:0002895, MONDO:ambiguous] +synonym: "dentinogenesis imperfecta" EXACT CLINGEN_LABEL [DOID:4154, icd11.foundation:2090257992, MONDO:0002895, MONDO:ambiguous, NCIT:C84667, Orphanet:49042] synonym: "dentinogenesis imperfecta (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "dentinogenesis imperfecta without osteogenesis imperfecta" EXACT [Orphanet:49042] synonym: "DGI" EXACT ABBREVIATION [Orphanet:49042] @@ -425277,7 +425362,7 @@ subset: orphanet_rare {source="Orphanet:49382"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACHM" EXACT ABBREVIATION [DOID:13911, Orphanet:49382] -synonym: "achromatopsia" EXACT CLINGEN_LABEL [] +synonym: "achromatopsia" EXACT CLINGEN_LABEL [DOID:13911, ICD10CM:H53.51, NCIT:C84528, Orphanet:49382] synonym: "complete or incomplete color blindness" EXACT [Orphanet:49382] synonym: "complete or incomplete colour blindness" EXACT OMO:0003005 [] synonym: "monochromatism" EXACT [DOID:13911] @@ -425336,8 +425421,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:49566"} subset: orphanet_rare {source="Orphanet:49566"} subset: rare -synonym: "acquired PF" EXACT [Orphanet:49566] -synonym: "acquired purpura fulminans" EXACT [MONDO:patterns/acquired] +synonym: "acquired PF" EXACT [] +synonym: "acquired purpura fulminans" EXACT [MONDO:patterns/acquired, Orphanet:49566] xref: GARD:18838 {source="MONDO:GARD"} xref: ICD10CM:D65 {source="Orphanet:49566/ntbt", source="Orphanet:49566"} xref: MedDRA:10037556 {source="Orphanet:49566/e", source="Orphanet:49566"} @@ -425369,10 +425454,10 @@ synonym: "burnett Schwartz Berberian syndrome" RELATED [MESH:C537412] synonym: "folliculitis ulerythematosa" RELATED [MESH:C537412] synonym: "folliculitis ulerythematosa reticulata" RELATED [MESH:C537412] synonym: "honeycomb atrophy" RELATED [MESH:C537412] -synonym: "keratosis pilaris" RELATED [GARD:0001042, MESH:C537412, OMIM:604093] -synonym: "keratosis pilaris atrophicans" EXACT [OMIM:604093] +synonym: "keratosis pilaris" RELATED [GARD:0001042, MESH:C537412] +synonym: "keratosis pilaris atrophicans" EXACT [DOID:0080751, icd11.foundation:273325594, OMIM:604093, Orphanet:498] synonym: "keratosis pilaris atrophicans facies" RELATED [GARD:0001042, MESH:C537412] -synonym: "KPA" RELATED ABBREVIATION [OMIM:604093] +synonym: "KPA" RELATED ABBREVIATION [] synonym: "ulerythema ophryogenes" RELATED [GARD:0001042, MESH:C537412] synonym: "ulerythema ophryogenes with multiple congenital anomalies" RELATED [GARD:0001042, MESH:C537412] synonym: "ulerythema ophryogenesis" RELATED [MESH:C537412] @@ -425492,7 +425577,7 @@ subset: ordo_disorder {source="Orphanet:50812"} subset: orphanet_rare {source="Orphanet:50812"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AHN-Lerman-Sagie syndrome" EXACT [Orphanet:50812] +synonym: "AHN-Lerman-Sagie syndrome" EXACT [icd11.foundation:697302760, Orphanet:50812] xref: GARD:18841 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:50812/attributed", source="Orphanet:50812/ntbt", source="Orphanet:50812"} xref: icd11.foundation:697302760 {source="MONDO:equivalentTo"} @@ -425525,7 +425610,7 @@ subset: ordo_disorder {source="Orphanet:50918"} subset: orphanet_rare {source="Orphanet:50918"} subset: rare synonym: "histiocytic necrotising lymphadenitis" RELATED [GARD:0006834] -synonym: "histiocytic necrotizing lymphadenitis" EXACT [Orphanet:50918] +synonym: "histiocytic necrotizing lymphadenitis" EXACT [NCIT:C71719, Orphanet:50918] synonym: "Kikuchi disease" EXACT [Orphanet:50918] synonym: "Kikuchi necrotizing lymphadenitis" RELATED [GARD:0006834] synonym: "Kikuchi's disease" RELATED [GARD:0006834] @@ -425551,7 +425636,7 @@ subset: ordo_disorder {source="Orphanet:50942"} subset: orphanet_rare {source="Orphanet:50942"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "keratosis palmoplantaris striata" EXACT [Orphanet:50942] +synonym: "keratosis palmoplantaris striata" EXACT [DOID:0081105, Orphanet:50942] synonym: "keratosis palmoplantaris striata et areata" EXACT [Orphanet:50942] synonym: "keratosis palmoplantaris varians of Wachters" EXACT [Orphanet:50942] xref: DOID:0081105 {source="MONDO:equivalentTo"} @@ -425580,8 +425665,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AGS" RELATED ABBREVIATION [GARD:0000575] synonym: "Aicardi Goutieres syndrome" EXACT [GARD:0000575] -synonym: "Aicardi-Goutières Syndrome" EXACT [NORD:111728] -synonym: "Aicardi-Goutières syndrome" RELATED [Orphanet:51] +synonym: "Aicardi-Goutières Syndrome" EXACT [NORD:111728, Orphanet:51] +synonym: "Aicardi-Goutières syndrome" RELATED [] synonym: "Cree encephalitis" EXACT [DOID:0050629, GARD:0000575] synonym: "encephalopathy with basal ganglia calcification" EXACT [Orphanet:51] synonym: "encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid" EXACT [GARD:0000575, Orphanet:51] @@ -425698,8 +425783,8 @@ subset: rare synonym: "generalised arterial calcification in infancy" RELATED OMO:0003005 [] synonym: "generalised arterial calcification of infancy" EXACT OMO:0003005 [] synonym: "generalized arterial calcification in infancy" RELATED [GARD:0008380] -synonym: "Generalized Arterial Calcification of Infancy" EXACT [NORD:2001] -synonym: "generalized arterial calcification of infancy" EXACT [DOID:0050644] +synonym: "Generalized Arterial Calcification of Infancy" EXACT [DOID:0050644, NORD:2001, OMIMPS:208000, Orphanet:51608] +synonym: "generalized arterial calcification of infancy" EXACT [DOID:0050644, OMIMPS:208000, Orphanet:51608] synonym: "idiopathic infantile arterial calcification" EXACT [DOID:0050644, Orphanet:51608] synonym: "idiopathic obliterative arteriopathy" EXACT [Orphanet:51608] synonym: "IIAC" RELATED ABBREVIATION [GARD:0008380] @@ -425731,9 +425816,9 @@ synonym: "acute M4 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M4 myeloid leukemia" EXACT [NCIT:C7463] synonym: "acute myeloblastic leukaemia type 4" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia type 4" RELATED [GARD:0000529] -synonym: "acute myelomonocytic leukaemia" EXACT OMO:0003005 [] +synonym: "acute myelomonocytic leukaemia" EXACT OMO:0003005 [icd11.foundation:1613358778] synonym: "acute myelomonocytic leukaemia (FAB type M4)" EXACT OMO:0003005 [] -synonym: "acute myelomonocytic leukemia" EXACT [NCIT:C7463] +synonym: "acute myelomonocytic leukemia" EXACT [DOID:0081082, NCIT:C7463, Orphanet:517] synonym: "acute myelomonocytic leukemia (FAB type M4)" EXACT [NCIT:C7463] synonym: "AML M4" EXACT [GARD:0000529, Orphanet:517] synonym: "AML-M4" RELATED [GARD:0000529] @@ -425772,12 +425857,12 @@ subset: rare synonym: "acute M7 myeloid leukaemia" EXACT OMO:0003005 [] synonym: "acute M7 myeloid leukemia" EXACT [NCIT:C3170] synonym: "acute megakaryoblastic leukaemia (FAB type M7)" EXACT OMO:0003005 [] -synonym: "acute megakaryoblastic leukemia" EXACT [MONDO:0004655, MONDO:0005222, NCIT:C3170] -synonym: "acute megakaryoblastic leukemia (FAB type M7)" EXACT [DOID:8761, NCIT:C3170] -synonym: "acute megakaryoblastic leukemia, FAB M7" EXACT [DOID:8761] +synonym: "acute megakaryoblastic leukemia" EXACT [MONDO:0004655, MONDO:0005222, NCIT:C3170, Orphanet:518] +synonym: "acute megakaryoblastic leukemia (FAB type M7)" EXACT [NCIT:C3170] +synonym: "acute megakaryoblastic leukemia, FAB M7" EXACT [] synonym: "acute megakaryocytic leukaemia" EXACT OMO:0003005 [] -synonym: "acute megakaryocytic leukemia" EXACT [NCIT:C3170, Orphanet:518] -synonym: "acute megakaryocytic leukemias" EXACT [DOID:8761, MTH:NOCODE] +synonym: "acute megakaryocytic leukemia" EXACT [DOID:8761, NCIT:C3170, Orphanet:518] +synonym: "acute megakaryocytic leukemias" EXACT [MTH:NOCODE] synonym: "acute myeloblastic leukaemia type 7" RELATED OMO:0003005 [] synonym: "acute myeloblastic leukemia type 7" RELATED [GARD:0000524] synonym: "acute myeloid leukaemia M7" EXACT OMO:0003005 [] @@ -425787,10 +425872,10 @@ synonym: "AML M7" EXACT [Orphanet:518] synonym: "FAB M7" EXACT [NCIT:C3170] synonym: "leukemia, megakaryocytic, malignant" EXACT [NCIT:C3170] synonym: "megakaryocytic leukaemia" RELATED OMO:0003005 [] -synonym: "megakaryocytic leukemia" RELATED [DOID:8761] +synonym: "megakaryocytic leukemia" RELATED [] synonym: "megakaryocytic myelosis" EXACT [DOID:8761] -synonym: "thrombocytic leukaemia" EXACT OMO:0003005 [] -synonym: "thrombocytic leukemia" EXACT [DOID:8761] +synonym: "thrombocytic leukaemia" EXACT OMO:0003005 [DOID:8761] +synonym: "thrombocytic leukemia" EXACT [] xref: DOID:8761 {source="MONDO:equivalentTo"} xref: EFO:0003025 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:524 {source="MONDO:GARD"} @@ -425852,17 +425937,17 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute granulocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute granulocytic leukemia" EXACT [NCIT:C3171] -synonym: "acute myeloblastic leukaemia" EXACT OMO:0003005 [] +synonym: "acute myeloblastic leukaemia" EXACT OMO:0003005 [DOID:9119] synonym: "acute myeloblastic leukemia" EXACT [DOID:9119, NCIT:C3171] synonym: "acute myelocytic leukaemia" EXACT OMO:0003005 [] synonym: "acute myelocytic leukemia" EXACT [NCIT:C3171] -synonym: "acute myelogenous leukaemia" EXACT OMO:0003005 [] +synonym: "acute myelogenous leukaemia" EXACT OMO:0003005 [DOID:9119] synonym: "acute myelogenous leukemia" EXACT [DOID:9119, NCIT:C3171, Orphanet:519] synonym: "acute myelogenous leukemias" EXACT [NCIT:C3171] synonym: "acute myeloid leukaemia (AML)" EXACT OMO:0003005 [] -synonym: "acute myeloid leukemia" EXACT CLINGEN_LABEL [NCIT:C3171] +synonym: "acute myeloid leukemia" EXACT CLINGEN_LABEL [DOID:9119, NCIT:C3171, Orphanet:519] synonym: "acute myeloid leukemia (AML)" EXACT [NCIT:C3171] -synonym: "acute myeloid leukemia, somatic" EXACT [OMIM:601626, OMIM:genemap2] +synonym: "acute myeloid leukemia, somatic" EXACT [] synonym: "acute non lymphoblastic leukaemia" RELATED OMO:0003005 [] synonym: "acute non lymphoblastic leukemia" RELATED [GARD:0000537] synonym: "acute Nonlymphocytic leukaemia" EXACT OMO:0003005 [] @@ -425875,16 +425960,16 @@ synonym: "AML - acute myeloid leukemia" EXACT [DOID:9119, NCIT:C3171] synonym: "ANLL" EXACT ABBREVIATION [NCIT:C3171] synonym: "hematopoeitic - acute Myleogenous leukaemia (AML)" EXACT OMO:0003005 [] synonym: "hematopoeitic - acute Myleogenous leukemia (AML)" EXACT [NCIT:C3171] -synonym: "leukemia, acute myelogenous" RELATED [OMIM:601626] -synonym: "leukemia, acute myeloid" RELATED [MONDO:Lexical, OMIM:601626] -synonym: "leukemia, acute myeloid, autosomal dominant, somatic mutation" EXACT [OMIM:601626, OMIM:genemap2] -synonym: "leukemia, acute myeloid, reduced survival in, somatic" EXACT [OMIM:601626, OMIM:genemap2] -synonym: "leukemia, acute myeloid, somatic" EXACT [OMIM:601626, OMIM:genemap2] -synonym: "leukemia, acute myeloid, susceptibility to" RELATED [OMIM:601626] -synonym: "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation" EXACT [OMIM:601626, OMIM:genemap2] +synonym: "leukemia, acute myelogenous" RELATED [] +synonym: "leukemia, acute myeloid" RELATED [MONDO:Lexical] +synonym: "leukemia, acute myeloid, autosomal dominant, somatic mutation" EXACT [] +synonym: "leukemia, acute myeloid, reduced survival in, somatic" EXACT [] +synonym: "leukemia, acute myeloid, somatic" EXACT [] +synonym: "leukemia, acute myeloid, susceptibility to" RELATED [] +synonym: "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation" EXACT [] synonym: "leukemia, myelocytic, acute" EXACT [DOID:9119, MTH:NOCODE] synonym: "myeloid leukemia, acute" EXACT [MONDO:patterns/acute] -synonym: "myeloid leukemia, acute, M4/M4Eo subtype, somatic" EXACT [OMIM:601626, OMIM:genemap2] +synonym: "myeloid leukemia, acute, M4/M4Eo subtype, somatic" EXACT [] xref: DOID:9119 {source="EFO:0000222", source="MONDO:equivalentTo"} xref: EFO:0000222 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:12757 {source="MONDO:GARD"} @@ -425932,19 +426017,19 @@ subset: ordo_disorder {source="Orphanet:524"} subset: orphanet_rare {source="Orphanet:524"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LFS" EXACT ABBREVIATION [OMIM:151623] -synonym: "LFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:151623] -synonym: "LFS3" RELATED ABBREVIATION [MONDO:0012234, MONDO:Lexical, OMIM:609266] +synonym: "LFS" EXACT ABBREVIATION [DOID:3012, OMIM:151623] +synonym: "LFS1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "LFS3" RELATED ABBREVIATION [MONDO:0012234, MONDO:Lexical] synonym: "Li Fraumeni syndrome" EXACT [GARD:0006902] synonym: "Li-Fraumeni familial cancer susceptibility syndrome" EXACT [NCIT:C3476] -synonym: "Li-Fraumeni familiar cancer susceptibility syndrome" EXACT [DOID:3012, NCIT:C3476] -synonym: "Li-Fraumeni syndrome" EXACT CLINGEN_LABEL [NCIT:C3476, OMIM:151623] +synonym: "Li-Fraumeni familiar cancer susceptibility syndrome" EXACT [DOID:3012] +synonym: "Li-Fraumeni syndrome" EXACT CLINGEN_LABEL [DOID:3012, icd11.foundation:1968061860, NCIT:C3476, OMIM:151623, Orphanet:524] synonym: "Li-Fraumeni syndrome caused by mutation in TP53" EXACT [MONDO:design_pattern] -synonym: "Li-Fraumeni-like syndrome" RELATED [OMIM:151623] -synonym: "sarcoma family syndrome of 51 and Fraumeni" RELATED [OMIM:151623] +synonym: "Li-Fraumeni-like syndrome" RELATED [] +synonym: "sarcoma family syndrome of 51 and Fraumeni" RELATED [] synonym: "sarcoma family syndrome of Li and Fraumeni" RELATED [GARD:0006902] -synonym: "sarcoma, breast, leukaemia and adrenal gland syndrome" EXACT OMO:0003005 [] -synonym: "sarcoma, breast, leukemia and adrenal gland syndrome" EXACT [DOID:3012] +synonym: "sarcoma, breast, leukaemia and adrenal gland syndrome" EXACT OMO:0003005 [DOID:3012] +synonym: "sarcoma, breast, leukemia and adrenal gland syndrome" EXACT [] synonym: "SBLA syndrome" EXACT [DOID:3012, OMIM:151623] synonym: "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)" RELATED [GARD:0006902] synonym: "TP53 Li-Fraumeni syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -425988,7 +426073,7 @@ subset: rare synonym: "classical mantle cell lymphoma" EXACT [NCIT:C4337] synonym: "LCM" EXACT ABBREVIATION [Orphanet:52416] synonym: "lymphoma, mantle cell" RELATED [GARD:0006969] -synonym: "mantle cell lymphoma" EXACT [NCIT:C4337] +synonym: "mantle cell lymphoma" EXACT [DOID:0050746, icd11.foundation:1804127841, NCIT:C4337, Orphanet:52416] synonym: "mantle zone lymphoma" EXACT [NCIT:C4337, Orphanet:52416] synonym: "MCL" EXACT ABBREVIATION [NCIT:C4337, Orphanet:52416] xref: DOID:0050746 {source="MONDO:equivalentTo"} @@ -426041,7 +426126,8 @@ subset: orphanet_rare {source="Orphanet:52429"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bo syndrome" EXACT [DOID:0060232] -synonym: "bor" EXACT [DOID:0060232] +synonym: "BOR" EXACT ABBREVIATION [DOID:0060232] +synonym: "bor" EXACT [] synonym: "branchiootic dysplasia" EXACT [DOID:0060232] xref: DOID:0060232 {source="MONDO:equivalentTo"} xref: GARD:10148 {source="MONDO:GARD"} @@ -426067,7 +426153,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:525"} subset: orphanet_rare {source="Orphanet:525"} subset: rare -synonym: "follicular lichen planus" EXACT [Orphanet:525] +synonym: "follicular lichen planus" EXACT [ICD10CM:L66.1, Orphanet:525] synonym: "frontal fibrosing alopecia (subtype)" RELATED [GARD:0003247] synonym: "Kossard disease" RELATED [GARD:0003247] synonym: "lichen follicularis" EXACT [Orphanet:525] @@ -426089,7 +426175,7 @@ id: MONDO:0018880 name: obsolete rare teratologic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:52662"} -synonym: "acquired embryofetopathy" EXACT [Orphanet:52662] +synonym: "acquired embryofetopathy" EXACT [] xref: Orphanet:52662 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -426107,19 +426193,19 @@ subset: ordo_group_of_disorders {source="Orphanet:52688"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dysmyelopoietic syndrome" EXACT [NCIT:C3247] -synonym: "hematopoeitic - myelodysplastic syndrome (MDS)" EXACT [NCIT:C3247] +synonym: "hematopoeitic - myelodysplastic syndrome (MDS)" EXACT [] synonym: "MDS" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3247, OMIM:614286] synonym: "MDS, unclassifiable" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] synonym: "MDS-U" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] synonym: "myelodysplasia" EXACT [NCIT:C3247] synonym: "myelodysplastic neoplasm" EXACT [NCIT:C3247] -synonym: "myelodysplastic syndrome" EXACT [MONDO:0013667, MONDO:Lexical, NCIT:C3247, OMIM:614286] -synonym: "myelodysplastic syndrome, NOS" RELATED EXCLUDE [NCIT:C3247] -synonym: "myelodysplastic syndrome, somatic" EXACT [OMIM:614286, OMIM:genemap2] -synonym: "myelodysplastic syndrome, susceptibility to" RELATED [OMIM:614286] +synonym: "myelodysplastic syndrome" EXACT [DOID:0050908, MONDO:0013667, MONDO:Lexical, NCIT:C3247, OMIM:614286, Orphanet:52688] +synonym: "myelodysplastic syndrome, NOS" RELATED EXCLUDE [] +synonym: "myelodysplastic syndrome, somatic" EXACT [] +synonym: "myelodysplastic syndrome, susceptibility to" RELATED [] synonym: "myelodysplastic syndrome, unclassifiable" EXACT [doi:10.5772/intechopen.82532] synonym: "myelodysplastic syndrome/neoplasm" EXACT [NCIT:C3247] -synonym: "Myelodysplastic Syndromes" EXACT [NORD:1480] +synonym: "Myelodysplastic Syndromes" EXACT [NCIT:C3247, NORD:1480] synonym: "myelodysplastic syndromes" EXACT [NCIT:C3247] synonym: "oligoblastic leukaemia" EXACT OMO:0003005 [] synonym: "oligoblastic leukemia" EXACT [NCIT:C3247] @@ -426163,8 +426249,8 @@ subset: gard_rare {source="GARD:18844", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:52759"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "angiitis" RELATED [DOID:865] -synonym: "systemic vasculitis" NARROW [Orphanet:52759] +synonym: "angiitis" RELATED [] +synonym: "systemic vasculitis" NARROW [] xref: DOID:865 {source="MONDO:equivalentTo", source="EFO:0006803"} xref: EFO:0006803 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:18844 {source="MONDO:GARD"} @@ -426198,18 +426284,18 @@ subset: ordo_disorder {source="Orphanet:528"} subset: orphanet_rare {source="Orphanet:528"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Beradinelli-Seip syndrome" EXACT [Orphanet:528] +synonym: "Beradinelli-Seip syndrome" EXACT [] synonym: "Berardinelli lipodystrophy syndrome" EXACT [NCIT:C84594] synonym: "Berardinelli Seip syndrome" EXACT [NCIT:C84594] -synonym: "Brunzell syndrome" EXACT [Orphanet:528] +synonym: "Brunzell syndrome" EXACT [icd11.foundation:1628738474] synonym: "BSCL" EXACT ABBREVIATION [Orphanet:528] synonym: "congenital generalised lipodystrophy" RELATED OMO:0003005 [] -synonym: "congenital generalized lipodystrophy" RELATED [NCIT:C84594] -synonym: "GCL" EXACT ABBREVIATION [Orphanet:528] -synonym: "generalised congenital lipodystrophy" EXACT OMO:0003005 [] -synonym: "generalized congenital lipodystrophy" EXACT [Orphanet:528] -synonym: "Lawrence-Seip syndrome" RELATED [NCIT:C84594] -synonym: "lipoatrophic diabetes" RELATED [Orphanet:528] +synonym: "congenital generalized lipodystrophy" RELATED [] +synonym: "GCL" EXACT ABBREVIATION [] +synonym: "generalised congenital lipodystrophy" EXACT OMO:0003005 [icd11.foundation:641763399] +synonym: "generalized congenital lipodystrophy" EXACT [] +synonym: "Lawrence-Seip syndrome" RELATED [] +synonym: "lipoatrophic diabetes" RELATED [] synonym: "Seip-Bernardinelli syndrome" EXACT [NCIT:C84594] synonym: "total lipodystrophy" EXACT [NCIT:C84594] xref: GARD:13388 {source="MONDO:GARD"} @@ -426315,7 +426401,7 @@ subset: ordo_disorder {source="Orphanet:53698"} subset: orphanet_rare {source="Orphanet:53698"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "myosin storage myopathy" EXACT [GARD:0007148, PMID:17118657] +synonym: "myosin storage myopathy" EXACT [DOID:0111267, GARD:0007148, Orphanet:53698, PMID:17118657] xref: DOID:0111267 {source="MONDO:equivalentTo"} xref: GARD:7148 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:53698", source="Orphanet:53698/attributed", source="Orphanet:53698/ntbt"} @@ -426407,9 +426493,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:53721"} subset: orphanet_rare {source="Orphanet:53721"} subset: rare synonym: "Cobb's syndrome" EXACT [NCIT:C4485] -synonym: "cutaneomeningospinal angiomatosis" EXACT [Orphanet:53721] +synonym: "cutaneomeningospinal angiomatosis" EXACT [icd11.foundation:1451924695, Orphanet:53721] synonym: "SAMS 1-31" EXACT [Orphanet:53721] -synonym: "spinal arteriovenous metameric syndrome" EXACT [Orphanet:53721] +synonym: "spinal arteriovenous metameric syndrome" EXACT [icd11.foundation:1451924695, Orphanet:53721] xref: GARD:11892 {source="MONDO:GARD"} xref: ICD10CM:Q27.3 {source="Orphanet:53721/ntbt", source="Orphanet:53721"} xref: icd11.foundation:1451924695 {source="MONDO:equivalentTo"} @@ -426461,13 +426547,13 @@ subset: orphanet_rare {source="Orphanet:54028"} subset: rare synonym: "dysphagia sideropenica" RELATED [GARD:0008259] synonym: "Kelly's syndrome" RELATED [GARD:0008259] -synonym: "Kelly-Paterson syndrome" EXACT [Orphanet:54028] +synonym: "Kelly-Paterson syndrome" EXACT [icd11.foundation:1568337509, Orphanet:54028] synonym: "Paterson's syndrome" RELATED [GARD:0008259] synonym: "Paterson-Brown-Kelly syndrome" RELATED [GARD:0008259] synonym: "Paterson-Kelly syndrome" RELATED [GARD:0008259] synonym: "Paterson’s syndrome" RELATED [GARD:0008259] synonym: "Plummer Vinson syndrome" RELATED [GARD:0008259] -synonym: "Sideropenic dysphagia" EXACT [Orphanet:54028] +synonym: "Sideropenic dysphagia" EXACT [icd11.foundation:1568337509, Orphanet:54028] xref: GARD:8259 {source="MONDO:GARD"} xref: ICD10CM:D50.1 {source="Orphanet:54028", source="Orphanet:54028/ntbt"} xref: icd11.foundation:1568337509 {source="MONDO:equivalentTo"} @@ -426494,10 +426580,10 @@ subset: ordo_disorder {source="Orphanet:54057"} subset: orphanet_rare {source="Orphanet:54057"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Moschcowitz disease" EXACT [Orphanet:54057] +synonym: "Moschcowitz disease" EXACT [icd11.foundation:1708277768, Orphanet:54057] synonym: "Moschcowitz's syndrome" EXACT [DOID:10772] synonym: "Moschowitz disease" EXACT [NCIT:C78797] -synonym: "TTP" EXACT ABBREVIATION [Orphanet:54057] +synonym: "TTP" EXACT ABBREVIATION [NCIT:C78797, Orphanet:54057] xref: DOID:10772 {source="MONDO:equivalentTo"} xref: GARD:16659 {source="MONDO:GARD"} xref: ICD10CM:M31.1 {source="Orphanet:54057/ntbt", source="Orphanet:54057", source="DOID:10772"} @@ -426551,7 +426637,7 @@ subset: ordo_group_of_disorders {source="Orphanet:542"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cutaneous (skin) lymphoma" EXACT [NCIT:C7162] -synonym: "primary cutaneous lymphoma" EXACT [NCIT:C7162] +synonym: "primary cutaneous lymphoma" EXACT [NCIT:C7162, Orphanet:542] synonym: "primary skin lymphoma" EXACT [NCIT:C7162] xref: GARD:18698 {source="MONDO:GARD"} xref: MedDRA:10051708 {source="Orphanet:542/e", source="Orphanet:542"} @@ -426574,7 +426660,7 @@ subset: ordo_disorder {source="Orphanet:54247"} subset: orphanet_rare {source="Orphanet:54247"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Benson syndrome" EXACT [Orphanet:54247] +synonym: "Benson syndrome" EXACT [icd11.foundation:377572273, Orphanet:54247] synonym: "biparietal Alzheimer disease" EXACT [Orphanet:54247] synonym: "PCA" EXACT ABBREVIATION [Orphanet:54247] xref: GARD:18846 {source="MONDO:GARD"} @@ -426622,7 +426708,7 @@ synonym: "left ventricular non-compaction cardiomyopathy" EXACT [NCIT:C99544] synonym: "left ventricular non-compaction syndrome" EXACT [NCIT:C99544] synonym: "left ventricular noncompaction (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "Lv non-compaction syndrome" EXACT [NCIT:C99544] -synonym: "LVNC" EXACT ABBREVIATION [Orphanet:54260] +synonym: "LVNC" EXACT ABBREVIATION [NCIT:C99544, Orphanet:54260] synonym: "spongy myocardium" EXACT [Orphanet:54260] xref: DOID:0060480 {source="MONDO:equivalentTo"} xref: GARD:10985 {source="MONDO:GARD"} @@ -426656,7 +426742,7 @@ synonym: "adenoma of liver cells" EXACT [NCIT:C3758] synonym: "adenoma of the liver cells" EXACT [NCIT:C3758] synonym: "adenoma, hepatocellular, benign" EXACT [NCIT:C3758] synonym: "HCA" EXACT ABBREVIATION [NCIT:C3758] -synonym: "hepatocellular adenoma" EXACT [NCIT:C3758] +synonym: "hepatocellular adenoma" EXACT [DOID:0050868, icd11.foundation:1481070735, NCIT:C3758, Orphanet:54272] synonym: "LIAD" RELATED ABBREVIATION [ONCOTREE:LIAD] synonym: "liver cell adenoma" EXACT [NCIT:C3758] xref: DOID:0050868 {source="MONDO:equivalentTo", source="EFO:0000762"} @@ -426688,7 +426774,7 @@ subset: ordo_disorder {source="Orphanet:54368"} subset: orphanet_rare {source="Orphanet:54368"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "sarcosporidiosis" EXACT [DOID:9640, ICD9CM:136.5, Orphanet:54368] +synonym: "sarcosporidiosis" EXACT [DOID:9640, icd11.foundation:261748740, ICD9CM:136.5, Orphanet:54368] xref: DOID:9640 {source="MONDO:equivalentTo", source="EFO:0007476"} xref: EFO:0007476 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:18848 {source="MONDO:GARD"} @@ -426717,9 +426803,9 @@ subset: ordo_disorder {source="Orphanet:54370"} subset: orphanet_rare {source="Orphanet:54370"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "membranoproliferative glomerulonephritis" RELATED [NCIT:C34644] +synonym: "membranoproliferative glomerulonephritis" RELATED [] synonym: "Mesangiocapillary glomerulonephritis" EXACT [Orphanet:54370] -synonym: "MPGN" EXACT ABBREVIATION [Orphanet:54370] +synonym: "MPGN" EXACT ABBREVIATION [] xref: GARD:11982 {source="MONDO:GARD"} xref: ICD10CM:N00.5 {source="Orphanet:54370/inclusion", source="Orphanet:54370", source="Orphanet:54370/ntbt"} xref: ICD9:583.2 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -426741,8 +426827,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:544"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "diffuse large B-cell lymphoma" EXACT [MONDO:0005018, NCIT:C8851] -synonym: "DLBCL" EXACT ABBREVIATION [NCIT:C8851, Orphanet:544] +synonym: "diffuse large B-cell lymphoma" EXACT [DOID:0050745, MONDO:0005018, NCIT:C8851, Orphanet:544] +synonym: "DLBCL" EXACT ABBREVIATION [DOID:0050745, NCIT:C8851, Orphanet:544] xref: DOID:0050745 {source="MONDO:equivalentTo", source="EFO:0000403"} xref: EFO:0000403 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:3178 {source="MONDO:GARD"} @@ -426772,13 +426858,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "follicle center lymphoma" EXACT [NCIT:C3209] synonym: "follicle centre lymphoma" EXACT OMO:0003005 [] -synonym: "follicular center cell lymphoma" EXACT [NCIT:C3209] -synonym: "follicular centre cell lymphoma" EXACT OMO:0003005 [] +synonym: "follicular center cell lymphoma" EXACT [] +synonym: "follicular centre cell lymphoma" EXACT OMO:0003005 [NCIT:C3209] synonym: "follicular non-Hodgkin lymphoma" EXACT [NCIT:C3209] synonym: "follicular non-Hodgkin's lymphoma" EXACT [NCIT:C3209] synonym: "lymphoma, follicular" RELATED [GARD:0002356] -synonym: "lymphoma, follicular center cell" EXACT [NCIT:C3209] -synonym: "lymphoma, follicular centre cell" EXACT OMO:0003005 [] +synonym: "lymphoma, follicular center cell" EXACT [] +synonym: "lymphoma, follicular centre cell" EXACT OMO:0003005 [NCIT:C3209] synonym: "lymphoma, follicular, malignant" EXACT [NCIT:C3209] xref: DOID:0050873 {source="MONDO:equivalentTo"} xref: GARD:2356 {source="MONDO:GARD"} @@ -426819,10 +426905,10 @@ synonym: "Adamantinomatous tumor" RELATED [GARD:0010486] synonym: "Adamantinomatous tumour" RELATED OMO:0003005 [] synonym: "craniopharyngeal duct tumor" RELATED [GARD:0010486] synonym: "craniopharyngeal duct tumour" RELATED OMO:0003005 [] -synonym: "craniopharyngioma (morphologic abnormality)" EXACT [DOID:3840] +synonym: "craniopharyngioma (morphologic abnormality)" EXACT [] synonym: "craniopharyngioma (WHO grade I)" EXACT [NCIT:C2964] synonym: "craniopharyngioma, benign" EXACT [NCIT:C2964] -synonym: "cystoma" RELATED [NCIT:C2964] +synonym: "cystoma" RELATED [] synonym: "Dysodontogenic epithelial tumor" RELATED [GARD:0010486] synonym: "Dysodontogenic epithelial tumour" RELATED OMO:0003005 [] synonym: "neoplasm of Rathke's pouch" EXACT [DOID:3840, NCIT:C2964] @@ -426870,9 +426956,9 @@ subset: ordo_group_of_disorders {source="Orphanet:547"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "NHL" EXACT ABBREVIATION [NCIT:C3211, Orphanet:547] -synonym: "NHL, NOS" RELATED EXCLUDE [NCIT:C3211] -synonym: "non-Hodgkin lymphoma" EXACT [NCIT:C3211] -synonym: "non-Hodgkin lymphoma, NOS" RELATED EXCLUDE [NCIT:C3211] +synonym: "NHL, NOS" RELATED EXCLUDE [] +synonym: "non-Hodgkin lymphoma" EXACT [DOID:0060060, NCIT:C3211, Orphanet:547] +synonym: "non-Hodgkin lymphoma, NOS" RELATED EXCLUDE [] synonym: "non-Hodgkin's lymphoma" EXACT [NCIT:C3211] synonym: "non-Hodgkin's lymphoma (NHL)" EXACT [NCIT:C3211] synonym: "non-Hodgkins lymphoma" EXACT [MONDO:0005587] @@ -426941,11 +427027,11 @@ subset: orphanet_rare {source="Orphanet:552"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Mason type diabetes" RELATED [GARD:0003697] -synonym: "Mason-type diabetes" EXACT [DOID:0050524] +synonym: "Mason-type diabetes" EXACT [DOID:0050524, OMIM:606391] synonym: "maturity onset diabetes of the young" EXACT [NCIT:C114769] -synonym: "maturity-onset diabetes of the young" EXACT CLINGEN_LABEL [MONDO:ambiguous, MONDO:Lexical, OMIM:606391, Orphanet:552] +synonym: "maturity-onset diabetes of the young" EXACT CLINGEN_LABEL [DOID:0050524, MONDO:ambiguous, MONDO:Lexical, NCIT:C114769, OMIM:606391, Orphanet:552] synonym: "maturity-onset diabetes of the young (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "MODY" EXACT ABBREVIATION [DOID:0050524, MONDO:Lexical, OMIM:606391] +synonym: "MODY" EXACT ABBREVIATION [DOID:0050524, MONDO:Lexical, NCIT:C114769, OMIM:606391, Orphanet:552] xref: DOID:0050524 {source="MONDO:equivalentTo"} xref: GARD:3697 {source="MONDO:GARD"} xref: HP:0004904 {source="MONDO:otherHierarchy"} @@ -426976,14 +427062,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adrenal hyperfunction resulting from pituitary ACTH excess" RELATED [GARD:0006224] synonym: "cortisol Excess" EXACT [NCIT:C2969] -synonym: "Cushing syndrome" EXACT [DOID:12252] -synonym: "Cushing's syndrome" EXACT [Orphanet:553] +synonym: "Cushing syndrome" EXACT [icd11.foundation:1654321425, NCIT:C2969] +synonym: "Cushing's syndrome" EXACT [ICD10CM:E24, NCIT:C2969] synonym: "ectopic adrenocorticotropic hormone syndrome" RELATED [GARD:0006224] -synonym: "hyperadrenocorticism" EXACT [Orphanet:553] -synonym: "hypercortisolism" BROAD [Orphanet:553] +synonym: "hyperadrenocorticism" EXACT [icd11.foundation:1654321425] +synonym: "hypercortisolism" BROAD [] synonym: "nodular primary adrenocortical dysplasia" RELATED [GARD:0006224] -synonym: "pituitary basophilism" EXACT [DOID:12252] -synonym: "suprarenogenic syndrome" EXACT [DOID:12252] +synonym: "pituitary basophilism" EXACT [] +synonym: "suprarenogenic syndrome" EXACT [] xref: DOID:12252 {source="EFO:0003099", source="MONDO:obsolete"} xref: EFO:0003099 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:6224 {source="MONDO:GARD"} @@ -427047,7 +427133,7 @@ subset: ordo_disorder {source="Orphanet:55654"} subset: orphanet_rare {source="Orphanet:55654"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary hypotrichosis simplex" NARROW [Orphanet:55654] +synonym: "hereditary hypotrichosis simplex" NARROW [] xref: GARD:9170 {source="MONDO:GARD"} xref: ICD10CM:L65.8 {source="Orphanet:55654", source="Orphanet:55654/attributed", source="Orphanet:55654/ntbt"} xref: MEDGEN:344257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -427117,13 +427203,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Albright's disease" EXACT [GARD:0006995] synonym: "gonadotropin-independent female-limited sexual precocity" EXACT [Orphanet:562] -synonym: "MAS" EXACT ABBREVIATION [NCIT:C48627] -synonym: "McCune Albright Syndrome" EXACT [NORD:1413] -synonym: "McCune Albright syndrome" EXACT [NCIT:C48627] -synonym: "mccune-albright syndrome, somatic, mosaic" EXACT [OMIM:174800, OMIM:genemap2] +synonym: "MAS" EXACT ABBREVIATION [NCIT:C48627, OMIM:174800] +synonym: "McCune Albright Syndrome" EXACT [DOID:1858, NCIT:C48627, NORD:1413] +synonym: "McCune Albright syndrome" EXACT [DOID:1858, NCIT:C48627] +synonym: "mccune-albright syndrome, somatic, mosaic" EXACT [] synonym: "PFD" RELATED ABBREVIATION [GARD:0006995] synonym: "POFD" RELATED ABBREVIATION [GARD:0006995] -synonym: "polyostotic fibrous dysplasia" RELATED [DOID:1858, OMIM:174800] +synonym: "polyostotic fibrous dysplasia" RELATED [] xref: DOID:1858 {source="MONDO:equivalentTo"} xref: GARD:6995 {source="MONDO:GARD"} xref: ICD10CM:Q78.1 {source="MONDO:relatedTo", source="Orphanet:562/ntbt", source="Orphanet:562/inclusion", source="Orphanet:562"} @@ -427164,8 +427250,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "antepartum peripartum cardiomyopathy" EXACT [DOID:9997] synonym: "Meadows' syndrome" RELATED [GARD:0000220] -synonym: "peripartum cardiomyopathy" EXACT [MONDO:0005199] -synonym: "postpartum cardiomyopathy" EXACT [GARD:0000220, Orphanet:563] +synonym: "peripartum cardiomyopathy" EXACT [DOID:9997, ICD10CM:O90.3, MONDO:0005199, NCIT:C171602, Orphanet:563] +synonym: "postpartum cardiomyopathy" EXACT [GARD:0000220, icd11.foundation:1218807936, Orphanet:563] synonym: "postpartum peripartum cardiomyopathy" EXACT [DOID:9997] xref: DOID:9997 {source="MONDO:equivalentTo", source="EFO:0002628"} xref: EFO:0002628 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -427195,7 +427281,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:564"} subset: orphanet_rare {source="Orphanet:564"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Meckel-Gruber syndrome" EXACT [DOID:0050778, Orphanet:564] +synonym: "Meckel-Gruber syndrome" EXACT [DOID:0050778, icd11.foundation:695796893, NCIT:C98978, Orphanet:564] xref: DOID:0050778 {source="MONDO:equivalentTo"} xref: GARD:3436 {source="MONDO:GARD"} xref: ICD10CM:Q61.9 {source="Orphanet:564/ntbt", source="Orphanet:564/inclusion", source="Orphanet:564"} @@ -427268,18 +427354,18 @@ subset: orphanet_rare {source="Orphanet:567"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "22q11DS" EXACT [Orphanet:567] -synonym: "catch 22" EXACT [Orphanet:567] +synonym: "catch 22" EXACT [icd11.foundation:1868156761, Orphanet:567] synonym: "Cayler cardiofacial syndrome" EXACT [Orphanet:567] synonym: "conotruncal anomaly face syndrome" EXACT [Orphanet:567] -synonym: "DiGeorge sequence" NARROW [Orphanet:567] -synonym: "DiGeorge syndrome" NARROW [Orphanet:567] +synonym: "DiGeorge sequence" NARROW [] +synonym: "DiGeorge syndrome" NARROW [] synonym: "microdeletion 22q11.2" EXACT [Orphanet:567] -synonym: "monosomy 22q11" EXACT [Orphanet:567] -synonym: "Sedlackova syndrome" EXACT [Orphanet:567] -synonym: "Shprintzen syndrome" EXACT [Orphanet:567] +synonym: "monosomy 22q11" EXACT [icd11.foundation:1868156761, Orphanet:567] +synonym: "Sedlackova syndrome" EXACT [icd11.foundation:1868156761, Orphanet:567] +synonym: "Shprintzen syndrome" EXACT [icd11.foundation:1868156761, Orphanet:567] synonym: "Takao syndrome" EXACT [Orphanet:567] synonym: "VCFS" RELATED ABBREVIATION [GARD:0010299] -synonym: "velocardiofacial syndrome" RELATED [Orphanet:567] +synonym: "velocardiofacial syndrome" RELATED [] xref: DECIPHER:16 {source="MONDO:equivalentTo"} xref: GARD:10299 {source="MONDO:GARD"} xref: ICD10CM:D82.1 {source="Orphanet:567", source="Orphanet:567/e", source="Orphanet:567/specific"} @@ -427347,9 +427433,9 @@ subset: ordo_disorder {source="Orphanet:569"} subset: orphanet_rare {source="Orphanet:569"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial or sporadic hemiplegic migraine" EXACT CLINGEN_LABEL [] -synonym: "Hemiplegic Migraine" EXACT [NORD:1979] -synonym: "hemiplegic migraine" EXACT [MONDO:0023310] +synonym: "familial or sporadic hemiplegic migraine" EXACT CLINGEN_LABEL [Orphanet:569] +synonym: "Hemiplegic Migraine" EXACT [icd11.foundation:1957063016, NORD:1979] +synonym: "hemiplegic migraine" EXACT [icd11.foundation:1957063016, MONDO:0023310] xref: GARD:10768 {source="MONDO:GARD"} xref: ICD10CM:G43.1 {source="Orphanet:569/inclusion", source="Orphanet:569/ntbt", source="Orphanet:569"} xref: icd11.foundation:1957063016 {source="Orphanet:569", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -427455,7 +427541,7 @@ synonym: "21q- syndrome" EXACT [Orphanet:574] synonym: "chromosome 21q deletion" RELATED [GARD:0010860] synonym: "deletion 21q" RELATED [GARD:0010860] synonym: "monosomy 21q" RELATED [GARD:0010860] -synonym: "monosomy type 21" EXACT [MONDORULE:2, Orphanet:574] +synonym: "monosomy type 21" EXACT [MONDORULE:2] synonym: "partial 21q monosomy" EXACT [Orphanet:574] synonym: "partial monosomy 21q" RELATED [GARD:0010860] xref: GARD:10860 {source="MONDO:GARD"} @@ -427480,25 +427566,25 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:423461"} subset: orphanet_rare {source="Orphanet:577"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ML 3" BROAD [OMIM:252600] +synonym: "ML 3" BROAD [] synonym: "ML 3 A" RELATED [GARD:0003806] -synonym: "ML 3 Alpha/Beta" RELATED [OMIM:252600] -synonym: "ML 3 alpha/beta" EXACT [Orphanet:423461] +synonym: "ML 3 Alpha/Beta" RELATED [] +synonym: "ML 3 alpha/beta" EXACT [OMIM:252600, Orphanet:423461] synonym: "ML III alpha/beta" EXACT [Orphanet:423461] synonym: "ML3" BROAD ABBREVIATION [GARD:0003806] synonym: "MLIII" EXACT ABBREVIATION [] -synonym: "mucolipidosis 3" BROAD [OMIM:252600] -synonym: "mucolipidosis 3 Alpha/Beta" RELATED [OMIM:252600] -synonym: "mucolipidosis 3 Alpha/Beta, atypical" RELATED [OMIM:252600] -synonym: "mucolipidosis 3A" RELATED [OMIM:252600] -synonym: "mucolipidosis III" BROAD [DOID:0080071] -synonym: "mucolipidosis III ALPHA/BETA" RELATED [OMIM:252600] +synonym: "mucolipidosis 3" BROAD [] +synonym: "mucolipidosis 3 Alpha/Beta" RELATED [] +synonym: "mucolipidosis 3 Alpha/Beta, atypical" RELATED [] +synonym: "mucolipidosis 3A" RELATED [] +synonym: "mucolipidosis III" BROAD [] +synonym: "mucolipidosis III ALPHA/BETA" RELATED [] synonym: "mucolipidosis type 3 alpha/beta" EXACT [Orphanet:423461] synonym: "mucolipidosis type 3A" RELATED [GARD:0003806] synonym: "mucolipidosis type III" EXACT [Orphanet:577] -synonym: "mucolipidosis type III alpha/beta" RELATED [Orphanet:423461] +synonym: "mucolipidosis type III alpha/beta" RELATED [] synonym: "Pseudo Hurler Polydystrophy" EXACT [NORD:1624] -synonym: "pseudo-Hurler polydystrophy" EXACT [GARD:0003806, OMIM:252600, Orphanet:577] +synonym: "pseudo-Hurler polydystrophy" EXACT [DOID:0080071, GARD:0003806, OMIM:252600, Orphanet:577] xref: DOID:0080071 {source="MONDO:equivalentTo"} xref: GARD:17704 {source="MONDO:GARD"} xref: ICD10CM:E77.0 {source="Orphanet:577", source="Orphanet:577/ntbt", source="Orphanet:423461/attributed", source="Orphanet:423461/ntbt", source="Orphanet:423461", source="Orphanet:577/inclusion"} @@ -427583,10 +427669,10 @@ subset: orphanet_rare {source="Orphanet:58017"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "classic hairy cell leukaemia" RELATED OMO:0003005 [] -synonym: "classic hairy cell leukemia" RELATED [Orphanet:58017] -synonym: "hairy cell leukemia" EXACT [MONDO:0006776, NCIT:C7402] -synonym: "HCL" EXACT ABBREVIATION [NCIT:C7402, ONCOTREE:HCL, Orphanet:58017] -synonym: "HCL-C" EXACT [Orphanet:58017] +synonym: "classic hairy cell leukemia" RELATED [] +synonym: "hairy cell leukemia" EXACT [DOID:285, MONDO:0006776, NCIT:C7402] +synonym: "HCL" EXACT ABBREVIATION [NCIT:C7402, ONCOTREE:HCL] +synonym: "HCL-C" EXACT ABBREVIATION [Orphanet:58017] synonym: "leukemic reticuloendotheliosis" EXACT [NCIT:C7402, Orphanet:58017] xref: DOID:285 {source="MONDO:equivalentTo", source="EFO:1000956"} xref: EFO:1000956 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -427629,7 +427715,7 @@ subset: rare synonym: "giant osteoid osteoma" EXACT [NCIT:C3294] synonym: "ossifying giant cell tumor" EXACT [NCIT:C3294] synonym: "ossifying giant cell tumour" EXACT OMO:0003005 [] -synonym: "osteoblastoma" EXACT [MONDO:ambiguous, NCIT:C3294] +synonym: "osteoblastoma" EXACT [DOID:0060098, icd11.foundation:1948326341, MONDO:ambiguous, NCIT:C3294, Orphanet:58040] synonym: "osteoblastoma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "osteoblastoma, benign" EXACT [NCIT:C3294] xref: DOID:0060098 {source="MONDO:equivalentTo"} @@ -427668,27 +427754,27 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "heparan sulfate sulfatase deficiency" EXACT [DOID:12801] synonym: "heparan sulphate sulfatase deficiency" EXACT OMO:0003005 [] -synonym: "MPS IIIA - Sanfilippo syndrome A" NARROW [DOID:12801] -synonym: "MPS IIIB - Sanfilippo syndrome B" NARROW [DOID:12801] -synonym: "MPS IIIC - Sanfilippo syndrome C" NARROW [DOID:12801] -synonym: "MPS IIID - Sanfilippo syndrome D" NARROW [DOID:12801] +synonym: "MPS IIIA - Sanfilippo syndrome A" NARROW [] +synonym: "MPS IIIB - Sanfilippo syndrome B" NARROW [] +synonym: "MPS IIIC - Sanfilippo syndrome C" NARROW [] +synonym: "MPS IIID - Sanfilippo syndrome D" NARROW [] synonym: "MPS3" EXACT ABBREVIATION [Orphanet:581] synonym: "MPSIII" EXACT ABBREVIATION [Orphanet:581] synonym: "Mucopoly-saccharidosis type 3" RELATED [GARD:0003807] -synonym: "mucopolysaccharidosis III" RELATED [DOID:12801] -synonym: "Mucopolysaccharidosis Type III" EXACT [NORD:1463] -synonym: "mucopolysaccharidosis type III" EXACT [DOID:12801, MONDORULE:3, Orphanet:581] -synonym: "mucopolysaccharidosis type IIIA" NARROW [DOID:12801] -synonym: "mucopolysaccharidosis type IIIB" NARROW [DOID:12801] +synonym: "mucopolysaccharidosis III" RELATED [] +synonym: "Mucopolysaccharidosis Type III" EXACT [NCIT:C61262, NORD:1463, Orphanet:581] +synonym: "mucopolysaccharidosis type III" EXACT [MONDORULE:3, NCIT:C61262, Orphanet:581] +synonym: "mucopolysaccharidosis type IIIA" NARROW [] +synonym: "mucopolysaccharidosis type IIIB" NARROW [] synonym: "mucopolysaccharidosis, MPS-III" EXACT [DOID:12801] -synonym: "mucopolysaccharidosis, MPS-III-B" NARROW [DOID:12801] -synonym: "N-acetyl-alpha-D-glucosaminidase deficiency" NARROW [DOID:12801] +synonym: "mucopolysaccharidosis, MPS-III-B" NARROW [] +synonym: "N-acetyl-alpha-D-glucosaminidase deficiency" NARROW [] synonym: "N-sulphoglucosamine sulphohydrolase deficiency" EXACT [DOID:12801] synonym: "NAGLU deficiency" NARROW [DOID:12801] synonym: "Sanfilippo disease" EXACT [Orphanet:581] -synonym: "Sanfilippo syndrome" EXACT [NCIT:C61262] -synonym: "Sanfilippo syndrome A" NARROW [DOID:12801] -synonym: "Sanfilippo syndrome B" NARROW [DOID:12801] +synonym: "Sanfilippo syndrome" EXACT [icd11.foundation:1477250013, NCIT:C61262] +synonym: "Sanfilippo syndrome A" NARROW [] +synonym: "Sanfilippo syndrome B" NARROW [] synonym: "Sanfilippo's syndrome" EXACT [DOID:12801] xref: DOID:12801 {source="MONDO:equivalentTo"} xref: GARD:3807 {source="MONDO:GARD"} @@ -427730,27 +427816,27 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chondroosteodystrophy" NARROW [DOID:12804] synonym: "deficiency of chondroitinsulphatase" EXACT [DOID:12804] -synonym: "deficiency of N-acetylgalactosamine-6-sulphatase" NARROW [DOID:12804] +synonym: "deficiency of N-acetylgalactosamine-6-sulphatase" NARROW [] synonym: "eccentro-osteochondrodysplasia" EXACT [MESH:D009085] synonym: "eccentrochondrodysplasia" EXACT [MONDO:0023038] synonym: "eccentroosteochondrodysplasia" EXACT [MESH:D009085] -synonym: "galactosamine-6-sulfatase deficiency" NARROW [DOID:12804] -synonym: "Morquio A disease" NARROW [DOID:12804] +synonym: "galactosamine-6-sulfatase deficiency" NARROW [] +synonym: "Morquio A disease" NARROW [] synonym: "Morquio disease" EXACT [Orphanet:582] -synonym: "Morquio syndrome" EXACT [https://orcid.org/0000-0002-6601-2165, NCIT:C61263] -synonym: "Morquio syndrome A" NARROW [DOID:12804] -synonym: "MPS IV - Morquio syndrome A" NARROW [DOID:12804] -synonym: "MPS IV - Morquio syndrome B" NARROW [DOID:12804] +synonym: "Morquio syndrome" EXACT [https://orcid.org/0000-0002-6601-2165, icd11.foundation:2078241550, NCIT:C61263] +synonym: "Morquio syndrome A" NARROW [] +synonym: "MPS IV - Morquio syndrome A" NARROW [] +synonym: "MPS IV - Morquio syndrome B" NARROW [] synonym: "MPS4" EXACT ABBREVIATION [Orphanet:582] synonym: "MPSIV" EXACT ABBREVIATION [Orphanet:582] -synonym: "Mucopolysaccharidosis IV" EXACT [NORD:1455] -synonym: "mucopolysaccharidosis IV" EXACT [NCIT:C61263] -synonym: "mucopolysaccharidosis type 4" EXACT [DOID:12804, MONDO:0001587] -synonym: "mucopolysaccharidosis type IV" EXACT [DOID:12804, MONDORULE:3, NCIT:C61263, Orphanet:582] -synonym: "mucopolysaccharidosis type IVA" NARROW [DOID:12804] -synonym: "mucopolysaccharidosis type IVB" NARROW [DOID:12804] +synonym: "Mucopolysaccharidosis IV" EXACT [DOID:12804, NCIT:C61263, NORD:1455] +synonym: "mucopolysaccharidosis IV" EXACT [DOID:12804, NCIT:C61263] +synonym: "mucopolysaccharidosis type 4" EXACT [icd11.foundation:2078241550, MONDO:0001587, Orphanet:582] +synonym: "mucopolysaccharidosis type IV" EXACT [MONDORULE:3, NCIT:C61263, Orphanet:582] +synonym: "mucopolysaccharidosis type IVA" NARROW [] +synonym: "mucopolysaccharidosis type IVB" NARROW [] synonym: "mucopolysaccharidosis, MPS-IV" EXACT [DOID:12804] -synonym: "mucopolysaccharidosis, MPS-IV-A" NARROW [DOID:12804] +synonym: "mucopolysaccharidosis, MPS-IV-A" NARROW [] synonym: "osteochondrodystrophy" NARROW [DOID:12804] xref: DOID:12804 {source="MONDO:equivalentTo"} xref: GARD:12562 {source="MONDO:GARD"} @@ -427832,9 +427918,9 @@ subset: rare synonym: "CMS" EXACT ABBREVIATION [Orphanet:590] synonym: "congenital MG" RELATED [GARD:0000098] synonym: "congenital myasthenia" RELATED [GARD:0011902] -synonym: "Congenital Myasthenic Syndromes" EXACT [NORD:1893] +synonym: "Congenital Myasthenic Syndromes" EXACT [icd11.foundation:1515367530, NORD:1893] synonym: "erb-Goldflam syndrome" RELATED [GARD:0000098] -synonym: "familial limb-girdle myasthenia" RELATED [DOID:3635] +synonym: "familial limb-girdle myasthenia" RELATED [] synonym: "myasthenia gravis congenital" RELATED [GARD:0000098] synonym: "myasthenia gravis pseudoparalytica" RELATED [GARD:0000098] synonym: "myasthenic syndrome, congenital" EXACT [OMIMPS:601462] @@ -427919,7 +428005,7 @@ synonym: "desmin storage myopathy (former name)" RELATED [GARD:0010529] synonym: "Desminopathy (type)" RELATED [GARD:0010529] synonym: "filaminopathy (type)" RELATED [GARD:0010529] synonym: "myofibrillar myopathies" RELATED [MESH:C580316] -synonym: "myofibrillar myopathy" EXACT CLINGEN_LABEL [MONDO:ambiguous, OMIMPS:601419] +synonym: "myofibrillar myopathy" EXACT CLINGEN_LABEL [DOID:0080307, icd11.foundation:125656853, MONDO:ambiguous, NCIT:C83009, Orphanet:593] synonym: "myofibrillar myopathy (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "myotilinopathy (type)" RELATED [GARD:0010529] synonym: "Protein surplus myopathy (former name)" RELATED [GARD:0010529] @@ -427953,14 +428039,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:59305"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gestational trophoblastic disease" BROAD [NCIT:C4699] -synonym: "gestational trophoblastic neoplasia" EXACT [DOID:3590, NCIT:C4699] +synonym: "gestational trophoblastic disease" BROAD [] +synonym: "gestational trophoblastic neoplasia" EXACT [DOID:3590] synonym: "gestational trophoblastic tumor" EXACT [NCIT:C4699] synonym: "gestational trophoblastic tumour" EXACT OMO:0003005 [] synonym: "GTN" EXACT ABBREVIATION [Orphanet:59305] synonym: "GTT" EXACT ABBREVIATION [NCIT:C4699] -synonym: "hydatidiform mole" RELATED [DOID:3590] -synonym: "molar pregnancy" RELATED [DOID:3590, NCIT:C3110] +synonym: "hydatidiform mole" RELATED [] +synonym: "molar pregnancy" RELATED [] xref: DOID:3590 {source="MONDO:equivalentTo"} xref: GARD:6498 {source="MONDO:GARD"} xref: ICD10CM:O01 {source="DOID:3590"} @@ -428008,14 +428094,14 @@ subset: ordo_disorder {source="Orphanet:59306"} subset: orphanet_rare {source="Orphanet:59306"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MCLDS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:300842] -synonym: "McLeod phenotype" RELATED [OMIM:300842] -synonym: "McLeod syndrome" EXACT [MONDO:0010445, MONDO:Lexical, OMIM:300842] -synonym: "McLeod syndrome with chronic granulomatous disease" RELATED [OMIM:300842] -synonym: "mcleod syndrome with or without chronic granulomatous disease" EXACT [OMIM:300842, OMIM:genemap2] -synonym: "MLS" EXACT ABBREVIATION [Orphanet:59306] -synonym: "neuroacanthocytosis, McLeod type" RELATED [OMIM:300842] -synonym: "X-linked McLeod syndrome" EXACT [Orphanet:59306] +synonym: "MCLDS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "McLeod phenotype" RELATED [] +synonym: "McLeod syndrome" EXACT [DOID:0112107, MONDO:0010445, MONDO:Lexical, OMIM:300842] +synonym: "McLeod syndrome with chronic granulomatous disease" RELATED [] +synonym: "mcleod syndrome with or without chronic granulomatous disease" EXACT [DOID:0112107] +synonym: "MLS" EXACT ABBREVIATION [DOID:0112107, Orphanet:59306] +synonym: "neuroacanthocytosis, McLeod type" RELATED [] +synonym: "X-linked McLeod syndrome" EXACT [DOID:0112107, Orphanet:59306] xref: DOID:0112107 {source="MONDO:equivalentTo"} xref: GARD:10731 {source="MONDO:GARD"} xref: HGNC:12811 {source="GARD:0010731"} @@ -428069,7 +428155,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:909"} subset: ordo_group_of_disorders {source="Orphanet:595"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "centronuclear myopathy" EXACT CLINGEN_LABEL [] +synonym: "centronuclear myopathy" EXACT CLINGEN_LABEL [DOID:14717, icd11.foundation:742097637, Orphanet:595] synonym: "CNM" EXACT ABBREVIATION [Orphanet:595] synonym: "myopathy, centronuclear" EXACT [OMIMPS:160150] synonym: "myopathy, myotubular" RELATED [GARD:0000101] @@ -428112,7 +428198,7 @@ subset: rare synonym: "MmD" EXACT [Orphanet:598] synonym: "multicore disease" EXACT [GARD:0009130] synonym: "multicore myopathy" EXACT [GARD:0009130] -synonym: "multiminicore disease" EXACT [Orphanet:598] +synonym: "multiminicore disease" EXACT [DOID:0080991, Orphanet:598] xref: DOID:0080991 {source="MONDO:equivalentTo"} xref: GARD:16536 {source="MONDO:GARD"} xref: ICD10CM:G71.2 {source="Orphanet:598", source="Orphanet:598/ntbt", source="Orphanet:598/inclusion"} @@ -428136,9 +428222,9 @@ subset: gard_rare {source="GARD:18699", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:599"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "distal muscular dystrophy" EXACT [MONDO:0001346, Orphanet:599] -synonym: "distal myopathy" EXACT [DOID:11720] -synonym: "Miyoshi muscular dystrophy" NARROW [DOID:11720] +synonym: "distal muscular dystrophy" EXACT [DOID:11720, icd11.foundation:596283352, MONDO:0001346, NCIT:C84675, Orphanet:599] +synonym: "distal myopathy" EXACT [DOID:11720, NCIT:C84675, Orphanet:599] +synonym: "Miyoshi muscular dystrophy" NARROW [] xref: DOID:11720 {source="MONDO:equivalentTo"} xref: GARD:18699 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:599", source="DOID:11720", source="Orphanet:599/ntbt", source="Orphanet:599/inclusion"} @@ -428173,14 +428259,14 @@ subset: orphanet_rare {source="Orphanet:6"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "3-MCC deficiency" EXACT [NCIT:C98674] -synonym: "3-methylcrotonyl-CoA carboxylase deficiency" EXACT CLINGEN_LABEL [] +synonym: "3-methylcrotonyl-CoA carboxylase deficiency" EXACT CLINGEN_LABEL [DOID:0050710, NCIT:C98674, Orphanet:6] synonym: "3-methylcrotonylglycinuria" EXACT [DOID:0050710, Orphanet:6] synonym: "3MCC deficiency" EXACT [DOID:0050710] synonym: "BMCC deficiency" EXACT [DOID:0050710] synonym: "MCC deficiency" EXACT [Orphanet:6] synonym: "MCCD" EXACT ABBREVIATION [Orphanet:6] synonym: "Methylcrotonyl-CoA carboxylase deficiency" EXACT [NCIT:C98674] -synonym: "methylcrotonylglycinuria" RELATED [OMIMPS:210200] +synonym: "methylcrotonylglycinuria" RELATED [] xref: DOID:0050710 {source="MONDO:equivalentTo"} xref: GARD:10954 {source="MONDO:GARD"} xref: ICD10CM:E71.1 {source="Orphanet:6/attributed", source="Orphanet:6/ntbt", source="Orphanet:6"} @@ -428215,7 +428301,7 @@ synonym: "distal myopathy 2" RELATED [GARD:0001887] synonym: "MATR3-related distal myopathy" EXACT [Orphanet:600] synonym: "MPD2" RELATED ABBREVIATION [GARD:0001887] synonym: "VCPDM" EXACT ABBREVIATION [Orphanet:600] -synonym: "vocal cord and pharyngeal distal myopathy" RELATED [Orphanet:600] +synonym: "vocal cord and pharyngeal distal myopathy" RELATED [] xref: GARD:1887 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:600/attributed", source="Orphanet:600/ntbt", source="Orphanet:600"} xref: icd11.foundation:1133125258 {source="MONDO:equivalentTo"} @@ -428256,11 +428342,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Caitlin marks" EXACT [DOID:0060285] synonym: "catlin marks" EXACT [Orphanet:60015] -synonym: "enlarged parietal foramina" EXACT [DOID:0060285] +synonym: "enlarged parietal foramina" EXACT [DOID:0060285, Orphanet:60015] synonym: "fenestrae parietales symmetricae" EXACT [Orphanet:60015] -synonym: "foramina parietalia permagna" EXACT [Orphanet:60015] -synonym: "hereditary cranium bifidum" EXACT [DOID:0060285, Orphanet:60015] -synonym: "parietal foramina" EXACT CLINGEN_LABEL [] +synonym: "foramina parietalia permagna" EXACT [icd11.foundation:905361904, Orphanet:60015] +synonym: "hereditary cranium bifidum" EXACT [DOID:0060285, icd11.foundation:905361904, Orphanet:60015] +synonym: "parietal foramina" EXACT CLINGEN_LABEL [DOID:0060285, icd11.foundation:905361904, OMIMPS:168500] synonym: "symmetric parietal foramina" EXACT [Orphanet:60015] xref: DOID:0060285 {source="MONDO:equivalentTo"} xref: GARD:16662 {source="MONDO:GARD"} @@ -428290,7 +428376,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aortic aneurysm syndrome due to TGF-beta receptors anomalies" EXACT [Orphanet:60030] synonym: "aortic aneurysm syndrome, Loeys-Dietz type" RELATED [GARD:0010788] -synonym: "Loeys-Dietz syndrome" EXACT CLINGEN_LABEL [] +synonym: "Loeys-Dietz syndrome" EXACT CLINGEN_LABEL [DOID:0050466, NCIT:C75006, OMIMPS:609192, Orphanet:60030] xref: DOID:0050466 {source="MONDO:equivalentTo"} xref: GARD:10788 {source="MONDO:GARD"} xref: ICD10CM:Q87.4 {source="Orphanet:60030/attributed", source="Orphanet:60030/ntbt", source="Orphanet:60030"} @@ -428327,7 +428413,7 @@ synonym: "JORRP (type)" RELATED [GARD:0000111] synonym: "juvenile laryngeal papilloma" RELATED [GARD:0000111] synonym: "juvenile-onset recurrent respiratory papillomatosis (type)" RELATED [GARD:0000111] synonym: "laryngeal papilloma, recurrent" RELATED [GARD:0000111] -synonym: "recurrent respiratory papillomatosis" EXACT [NCIT:C128637] +synonym: "recurrent respiratory papillomatosis" EXACT [icd11.foundation:151039887, NCIT:C128637, Orphanet:60032] synonym: "respiratory papillomatosis, recurrent" RELATED [GARD:0000111] synonym: "RRP" EXACT ABBREVIATION [GARD:0000111, NCIT:C128637] xref: GARD:111 {source="MONDO:GARD"} @@ -428409,13 +428495,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital rod disease" RELATED [GARD:0012033] synonym: "NEM" EXACT ABBREVIATION [Orphanet:607] -synonym: "nemaline body disease" EXACT [DOID:3191] -synonym: "nemaline myopathy" EXACT CLINGEN_LABEL [] +synonym: "nemaline body disease" EXACT [DOID:3191, icd11.foundation:1996502540] +synonym: "nemaline myopathy" EXACT CLINGEN_LABEL [DOID:3191, icd11.foundation:1996502540, OMIMPS:161800, Orphanet:607] synonym: "nemaline rod disease" RELATED [GARD:0012033] synonym: "nemaline rod myopathy" EXACT [DOID:3191, Orphanet:607] synonym: "NM" EXACT ABBREVIATION [Orphanet:607] synonym: "Rod body disease" RELATED [GARD:0012033] -synonym: "rod myopathy" EXACT [DOID:3191] +synonym: "rod myopathy" EXACT [DOID:3191, icd11.foundation:1996502540] synonym: "Rod-body myopathy" RELATED [GARD:0012033] xref: DOID:3191 {source="MONDO:equivalentTo"} xref: GARD:12033 {source="MONDO:GARD"} @@ -428445,16 +428531,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "K+-aggravated myotonia" EXACT [Orphanet:612] synonym: "K-aggravated myotonia" EXACT [Orphanet:612] -synonym: "Laryngospasm, Severe Neonatal Episodic" RELATED [OMIM:608390] -synonym: "Myotonia Congenita, Acetazolamide-Responsive" RELATED [OMIM:608390] -synonym: "Myotonia Congenita, Atypical" RELATED [OMIM:608390] -synonym: "myotonia congenita, atypical, acetazolamide-responsive" EXACT [OMIM:608390, OMIM:genemap2] -synonym: "Myotonia Fluctuans" RELATED [OMIM:608390] -synonym: "Myotonia Permanens" RELATED [OMIM:608390] -synonym: "MYOTONIA, POTASSIUM-AGGRAVATED" RELATED [OMIM:608390] -synonym: "PAM" EXACT ABBREVIATION [Orphanet:612] +synonym: "Laryngospasm, Severe Neonatal Episodic" RELATED [] +synonym: "Myotonia Congenita, Acetazolamide-Responsive" RELATED [] +synonym: "Myotonia Congenita, Atypical" RELATED [] +synonym: "myotonia congenita, atypical, acetazolamide-responsive" EXACT [] +synonym: "Myotonia Fluctuans" RELATED [] +synonym: "Myotonia Permanens" RELATED [] +synonym: "MYOTONIA, POTASSIUM-AGGRAVATED" RELATED [] +synonym: "PAM" EXACT ABBREVIATION [NCIT:C122788, Orphanet:612] synonym: "Potassium aggravated myotonia" EXACT [NCIT:C122788] -synonym: "Sodium Channel Muscle Disease" RELATED [OMIM:608390] +synonym: "Sodium Channel Muscle Disease" RELATED [] xref: GARD:4459 {source="MONDO:GARD"} xref: ICD10CM:G71.1 {source="Orphanet:612", source="Orphanet:612/attributed", source="Orphanet:612/ntbt"} xref: icd11.foundation:1707250468 {source="MONDO:equivalentTo"} @@ -428539,7 +428625,7 @@ relationship: excluded_subClassOf MONDO:0020177 {source="Orphanet:618", source=" id: MONDO:0018962 name: common mesentery subset: ordo_morphological_anomaly {source="Orphanet:620"} -synonym: "universal mesentery" EXACT [Orphanet:620] +synonym: "universal mesentery" EXACT [icd11.foundation:2101515260] xref: ICD10CM:Q43.3 {source="Orphanet:620", source="Orphanet:620/ntbt", source="Orphanet:620/inclusion"} xref: icd11.foundation:2101515260 {source="MONDO:equivalentTo"} xref: MEDGEN:539782 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -428560,8 +428646,8 @@ subset: orphanet_rare {source="Orphanet:621"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive methemoglobinemia" EXACT [Orphanet:621] -synonym: "congenital methemoglobinemia" EXACT [Orphanet:621] -synonym: "hereditary methemoglobinemia" EXACT [MONDO:patterns/hereditary] +synonym: "congenital methemoglobinemia" EXACT [NCIT:C98898, Orphanet:621] +synonym: "hereditary methemoglobinemia" EXACT [icd11.foundation:586921197, MONDO:patterns/hereditary, Orphanet:621] xref: GARD:2659 {source="MONDO:GARD"} xref: ICD10CM:D74.0 {source="Orphanet:621", source="Orphanet:621/attributed", source="Orphanet:621/ntbt"} xref: icd11.foundation:586921197 {source="Orphanet:621", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -428589,8 +428675,8 @@ subset: orphanet_rare {source="Orphanet:622"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "functional methionine synthase deficiency" EXACT [Orphanet:622] -synonym: "homocystinuria without methylmalonic aciduria" EXACT [] -synonym: "methylcobalamin deficiency" EXACT [Orphanet:622] +synonym: "homocystinuria without methylmalonic aciduria" EXACT [icd11.foundation:726186034, Orphanet:622] +synonym: "methylcobalamin deficiency" EXACT [icd11.foundation:726186034, Orphanet:622] xref: GARD:16537 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:622/attributed", source="Orphanet:622/ntbt", source="Orphanet:622"} xref: icd11.foundation:726186034 {source="MONDO:equivalentTo"} @@ -428617,9 +428703,9 @@ subset: orphanet_rare {source="Orphanet:63"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Alport deafness-nephropathy" EXACT [Orphanet:63] -synonym: "Alport syndrome" EXACT CLINGEN_LABEL [] +synonym: "Alport syndrome" EXACT CLINGEN_LABEL [DOID:10983, ICD10CM:Q87.81, icd11.foundation:1170919425, NCIT:C34842, OMIMPS:301050, Orphanet:63] synonym: "Alport's syndrome" EXACT [NCIT:C34842] -synonym: "hereditary nephritis" BROAD [DOID:10983, NCIT:C34842] +synonym: "hereditary nephritis" BROAD [] xref: DOID:10983 {source="MONDO:equivalentTo"} xref: GARD:5785 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:63/ntbt", source="Orphanet:63/inclusion", source="Orphanet:63"} @@ -428703,7 +428789,7 @@ subset: orphanet_rare {source="Orphanet:63260"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cranial rachischisis" EXACT [NCIT:C98907] -synonym: "craniorachischisis" EXACT [MONDO:ambiguous] +synonym: "craniorachischisis" EXACT [icd11.foundation:675690362, MONDO:ambiguous, NCIT:C98907, Orphanet:63260] synonym: "craniorachischisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:10504 {source="MONDO:GARD"} xref: HP:0030770 {source="MONDO:otherHierarchy"} @@ -428735,11 +428821,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_morphological_anomaly {source="Orphanet:63440"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrocephaly" EXACT [Orphanet:63440] -synonym: "hypsicephaly" EXACT [Orphanet:63440] -synonym: "hypsocephaly" EXACT [Orphanet:63440] -synonym: "pyrgocephaly" EXACT [Orphanet:63440] -synonym: "turricephaly" EXACT [Orphanet:63440] +synonym: "acrocephaly" EXACT [] +synonym: "hypsicephaly" EXACT [] +synonym: "hypsocephaly" EXACT [] +synonym: "pyrgocephaly" EXACT [] +synonym: "turricephaly" EXACT [] xref: ICD10CM:Q75.0 {source="Orphanet:63440/ntbt", source="Orphanet:63440/inclusion", source="Orphanet:63440"} xref: MEDGEN:1726910 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:63440 {source="MONDO:equivalentObsolete"} @@ -428756,7 +428842,7 @@ id: MONDO:0018972 name: obsolete rare epithelial tumor of stomach subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:63443"} -synonym: "rare gastric epithelial tumor" EXACT [Orphanet:63443] +synonym: "rare gastric epithelial tumor" EXACT [] xref: Orphanet:63443 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -428817,24 +428903,24 @@ subset: ordo_disorder {source="Orphanet:636"} subset: orphanet_rare {source="Orphanet:636"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neurofibromatosis" BROAD [NCIT:C3273] -synonym: "Neurofibromatosis 1" EXACT [NORD:1502] -synonym: "neurofibromatosis 1" EXACT [NCIT:C3273, NORD:1502] -synonym: "neurofibromatosis type 1" EXACT CLINGEN_LABEL [NCIT:C3273] -synonym: "neurofibromatosis type 1 microdeletion syndrome" RELATED [NCIT:C3273] -synonym: "neurofibromatosis type i" EXACT [https://orcid.org/0000-0002-1780-9872] -synonym: "neurofibromatosis, peripheral type" RELATED [OMIM:162200] -synonym: "neurofibromatosis, type 1" EXACT [MONDO:0008077] -synonym: "neurofibromatosis, type I" RELATED [MONDO:Lexical, OMIM:162200] -synonym: "NF1" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C3273, OMIM:162200, Orphanet:636] +synonym: "neurofibromatosis" BROAD [] +synonym: "Neurofibromatosis 1" EXACT [DOID:0111253, NCIT:C3273, NORD:1502] +synonym: "neurofibromatosis 1" EXACT [DOID:0111253, NCIT:C3273, NORD:1502] +synonym: "neurofibromatosis type 1" EXACT CLINGEN_LABEL [icd11.foundation:337970533, NCIT:C3273, Orphanet:636] +synonym: "neurofibromatosis type 1 microdeletion syndrome" RELATED [] +synonym: "neurofibromatosis type i" EXACT [DOID:0111253, https://orcid.org/0000-0002-1780-9872] +synonym: "neurofibromatosis, peripheral type" RELATED [] +synonym: "neurofibromatosis, type 1" EXACT [MONDO:0008077, OMIM:162200] +synonym: "neurofibromatosis, type I" RELATED [MONDO:Lexical] +synonym: "NF1" EXACT ABBREVIATION [DOID:0111253, MONDO:Lexical, NCIT:C3273, OMIM:162200] synonym: "Nf1-Microdeletion syndrome" EXACT [DECIPHER:15] synonym: "nonmosaic neurofibromatosis type 1" EXACT [Orphanet:636] synonym: "nonmosaic NF1" EXACT [Orphanet:636] -synonym: "peripheral neurofibromatosis" EXACT [NCIT:C3273] +synonym: "peripheral neurofibromatosis" EXACT [DOID:0111253, NCIT:C3273] synonym: "Recklinghausen's disease" RELATED [GARD:0007866] synonym: "type 1 neurofibromatosis" RELATED [GARD:0007866] -synonym: "Von Recklinghausen disease" RELATED [NCIT:C3273, OMIM:162200, Orphanet:636] -synonym: "von Reklinghausen disease" RELATED [DOID:8712] +synonym: "Von Recklinghausen disease" RELATED [] +synonym: "von Reklinghausen disease" RELATED [] xref: DECIPHER:15 {source="MONDO:equivalentTo"} xref: DOID:0111253 {source="MONDO:equivalentTo"} xref: GARD:7866 {source="MONDO:GARD"} @@ -428919,10 +429005,10 @@ subset: gard_rare {source="GARD:8337", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1146"} subset: ordo_subtype_of_a_disorder {source="Orphanet:63999"} subset: rare -synonym: "Fibrosing Mediastinitis" EXACT [NORD:1146] -synonym: "fibrosing mediastinitis" EXACT [Orphanet:63999] +synonym: "Fibrosing Mediastinitis" EXACT [icd11.foundation:123840075, NORD:1146, Orphanet:63999] +synonym: "fibrosing mediastinitis" EXACT [icd11.foundation:123840075, Orphanet:63999] synonym: "idiopathic mediastinal fibrosis" RELATED [GARD:0008337] -synonym: "mediastinal fibrosis" EXACT [Orphanet:63999] +synonym: "mediastinal fibrosis" EXACT [icd11.foundation:123840075, Orphanet:63999] synonym: "sclerosing mediastinitis" EXACT [Orphanet:63999] xref: GARD:8337 {source="MONDO:GARD"} xref: ICD10CM:J98.5 {source="Orphanet:63999", source="Orphanet:63999/ntbt"} @@ -428946,7 +429032,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1952"} subset: ordo_disorder {source="Orphanet:641"} subset: orphanet_rare {source="Orphanet:641"} subset: rare -synonym: "MMN" EXACT ABBREVIATION [Orphanet:641] +synonym: "MMN" EXACT ABBREVIATION [ICD10CM:G61.82, Orphanet:641] synonym: "MMNCB" EXACT ABBREVIATION [Orphanet:641] synonym: "multifocal motor neuropathy with conduction block" EXACT [Orphanet:641] xref: GARD:11011 {source="MONDO:GARD"} @@ -428991,7 +429077,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:64545"} subset: orphanet_rare {source="Orphanet:64545"} subset: rare -synonym: "benign nonfamilial neonatal seizures" EXACT [Orphanet:64545] +synonym: "benign nonfamilial neonatal seizures" EXACT [icd11.foundation:1131336245, Orphanet:64545] synonym: "BINS" EXACT ABBREVIATION [Orphanet:64545] xref: GARD:18860 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:64545/ntbt", source="Orphanet:64545"} @@ -429047,11 +429133,11 @@ subset: orphanet_rare {source="Orphanet:64686"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "nonspecific inflammation of the cavernous sinus or superior orbital fissure" RELATED [GARD:0007777] -synonym: "painful ophthalmoplegia" EXACT [Orphanet:64686] +synonym: "painful ophthalmoplegia" EXACT [icd11.foundation:969826782, Orphanet:64686] synonym: "THS" RELATED ABBREVIATION [GARD:0007777] synonym: "Tolosa Hunt Syndrome" EXACT [NORD:1774] synonym: "Tolosa Hunt syndrome" EXACT [GARD:0007777] -synonym: "Tolosa-Hunt syndrome" EXACT [DOID:1278] +synonym: "Tolosa-Hunt syndrome" EXACT [DOID:1278, icd11.foundation:969826782, NCIT:C85193, Orphanet:64686] xref: DOID:1278 {source="MONDO:equivalentTo"} xref: GARD:7777 {source="MONDO:GARD"} xref: ICD10CM:H49.8 {source="Orphanet:64686/attributed", source="Orphanet:64686/ntbt", source="Orphanet:64686"} @@ -429084,11 +429170,11 @@ subset: rare synonym: "Bartonella bacilliformis caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bartonella bacilliformis disease or disorder" EXACT [] synonym: "Bartonella bacilliformis infectious disease" EXACT [] -synonym: "bartonellosis due to Bartonella bacilliformis infection" EXACT [Orphanet:64692] -synonym: "Carrion disease" EXACT [DOID:0050398, MONDO:0000322, Orphanet:64692] -synonym: "Carrion's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "bartonellosis due to Bartonella bacilliformis infection" EXACT [] +synonym: "Carrion disease" EXACT [DOID:0050398, MONDO:0000322, NCIT:C128441, Orphanet:64692] +synonym: "Carrion's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:0050398, MONDO:LexicalVariant] synonym: "Carrión disease" EXACT [NCIT:C128441] -synonym: "Oroya fever" EXACT [DOID:0050398] +synonym: "Oroya fever" EXACT [DOID:0050398, icd11.foundation:1031219789, Orphanet:659756] xref: DOID:0050398 {source="MONDO:equivalentTo"} xref: GARD:18861 {source="MONDO:GARD"} xref: ICD10CM:A44.0 {source="Orphanet:64692/e", source="Orphanet:64692"} @@ -429219,9 +429305,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:64744"} subset: rare synonym: "Riedel disease" EXACT [Orphanet:64744] -synonym: "Riedel fibrosing thyroiditis" EXACT [DOID:14351] +synonym: "Riedel fibrosing thyroiditis" EXACT [DOID:14351, NCIT:C35827] synonym: "Riedel thyroiditis" EXACT [NCIT:C35827, Orphanet:64744] -synonym: "Riedel's fibrosing thyroiditis" EXACT [MONDO:0001948] +synonym: "Riedel's fibrosing thyroiditis" EXACT [DOID:14351, MONDO:0001948, NCIT:C35827] xref: DOID:14351 {source="MONDO:equivalentTo"} xref: GARD:18866 {source="MONDO:GARD"} xref: ICD10CM:E06.5 {source="Orphanet:64744/ntbt", source="Orphanet:64744"} @@ -429247,7 +429333,7 @@ subset: ordo_group_of_disorders {source="Orphanet:64746"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease" EXACT [Orphanet:64746] -synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2" RELATED [Orphanet:64746] +synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2" RELATED [] synonym: "Charcot-Marie-Tooth type 2" RELATED [GARD:0012431] synonym: "CMT2" EXACT ABBREVIATION [Orphanet:64746] synonym: "hereditary motor and sensory neuropathy Guadalajara neuronal type" EXACT [DOID:0050539] @@ -429282,9 +429368,9 @@ subset: ordo_group_of_disorders {source="Orphanet:64747"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CMTX" EXACT ABBREVIATION [Orphanet:64747] -synonym: "Cowchock syndrome" RELATED EXCLUDE [DOID:0050542] -synonym: "COWCK" EXACT ABBREVIATION [DOID:0050542] -synonym: "X-linked Charcot-Marie-Tooth disease" RELATED [Orphanet:64747] +synonym: "Cowchock syndrome" RELATED EXCLUDE [] +synonym: "COWCK" EXACT ABBREVIATION [] +synonym: "X-linked Charcot-Marie-Tooth disease" RELATED [] synonym: "X-linked hereditary motor and sensory neuropathy" EXACT [Orphanet:64747] xref: DOID:0050542 {source="MONDO:equivalentTo"} xref: GARD:12444 {source="MONDO:GARD"} @@ -429312,10 +429398,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:64749"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AR-CMT1" EXACT [Orphanet:64749] +synonym: "AR-CMT1" EXACT ABBREVIATION [Orphanet:64749] synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth" EXACT [Orphanet:64749] synonym: "CMT4" EXACT ABBREVIATION [Orphanet:64749] -synonym: "hereditary motor and sensory neuropathy" RELATED EXCLUDE [DOID:0050541] +synonym: "hereditary motor and sensory neuropathy" RELATED EXCLUDE [] xref: DOID:0050541 {source="MONDO:equivalentTo"} xref: GARD:12440 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:64749/inclusion", source="Orphanet:64749/ntbt", source="Orphanet:64749"} @@ -429340,18 +429426,18 @@ subset: ordo_disorder {source="Orphanet:64753"} subset: orphanet_rare {source="Orphanet:64753"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AOA2" EXACT ABBREVIATION [OMIM:606002, Orphanet:64753] -synonym: "ataxia with oculomotor apraxia type 2" EXACT [MONDO:0000438] +synonym: "AOA2" EXACT ABBREVIATION [DOID:0050755, NCIT:C165500, Orphanet:64753] +synonym: "ataxia with oculomotor apraxia type 2" EXACT [DOID:0050755, MONDO:0000438, NCIT:C165500] synonym: "ataxia-ocular apraxia 2" EXACT [OMIM:606002] synonym: "ataxia-oculomotor apraxia 2" EXACT [OMIM:606002] synonym: "ataxia-oculomotor apraxia type 2" EXACT [Orphanet:64753] synonym: "autosomal recessive spinocerebellar ataxia-1" RELATED [GARD:0012860] synonym: "SCAN 2" EXACT [Orphanet:64753] -synonym: "SCAN2" EXACT ABBREVIATION [] -synonym: "SCAR1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606002, Orphanet:64753] -synonym: "spinocerebellar ataxia with axonal neuropathy type 2" EXACT [Orphanet:64753] -synonym: "spinocerebellar ataxia, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:606002] -synonym: "spinocerebellar ataxia, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:606002] +synonym: "SCAN2" EXACT ABBREVIATION [DOID:0050755, NCIT:C165500, OMIM:606002] +synonym: "SCAR1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "spinocerebellar ataxia with axonal neuropathy type 2" EXACT [DOID:0050755, Orphanet:64753] +synonym: "spinocerebellar ataxia, autosomal recessive 1" EXACT [MONDO:Lexical] +synonym: "spinocerebellar ataxia, autosomal recessive type 1" EXACT [MONDORULE:1] xref: DOID:0050755 {source="MONDO:equivalentTo"} xref: GARD:12860 {source="MONDO:GARD"} xref: ICD10CM:G60.2 {source="Orphanet:64753", source="Orphanet:64753/attributed", source="Orphanet:64753/ntbt"} @@ -429379,7 +429465,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:648"} subset: orphanet_rare {source="Orphanet:648"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Noonan syndrome" EXACT CLINGEN_LABEL [NCIT:C34854] +synonym: "Noonan syndrome" EXACT CLINGEN_LABEL [DOID:3490, icd11.foundation:1044395354, NCIT:C34854, OMIMPS:163950, Orphanet:648] synonym: "Noonan's syndrome" EXACT [NCIT:C34854] synonym: "Noonan-Ehmke syndrome" RELATED [GARD:0010955] synonym: "pseudo-Ullrich-Turner syndrome" RELATED [GARD:0010955] @@ -429430,7 +429516,7 @@ synonym: "amaurosis congenita of Leber" EXACT [Orphanet:65] synonym: "congenital absence of the rods and cones" RELATED [GARD:0000634] synonym: "congenital retinal blindness" RELATED [GARD:0000634] synonym: "LCA" EXACT ABBREVIATION [DOID:14791] -synonym: "Leber congenital amaurosis" EXACT CLINGEN_LABEL [] +synonym: "Leber congenital amaurosis" EXACT CLINGEN_LABEL [DOID:14791, icd11.foundation:650490256, NCIT:C129075, OMIMPS:204000, Orphanet:65] synonym: "Leber's amaurosis" EXACT [DOID:14791] synonym: "Leber's congenital amaurosis" EXACT [DOID:14791] synonym: "Leber's congenital tapetoretinal degeneration" RELATED [GARD:0000634] @@ -429487,7 +429573,7 @@ synonym: "perineural cysts" RELATED [GARD:0009258] synonym: "sacral neural cysts" RELATED [GARD:0009258] synonym: "sacral perineural cysts" RELATED [GARD:0009258] synonym: "sacral Tarlov cysts" RELATED [GARD:0009258] -synonym: "Tarlov cyst" EXACT [Orphanet:65250] +synonym: "Tarlov cyst" EXACT [] synonym: "Tarlov cysts" RELATED [GARD:0009258] xref: GARD:9258 {source="MONDO:GARD"} xref: ICD10CM:G54.8 {source="Orphanet:65250/ntbt", source="Orphanet:65250"} @@ -429517,7 +429603,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dysplastic cerebellar gangliocytoma" EXACT [NCIT:C8419] synonym: "dysplastic gangliocytoma of cerebellum" EXACT [NCIT:C8419] -synonym: "dysplastic gangliocytoma of the cerebellum" EXACT [Orphanet:65285] +synonym: "dysplastic gangliocytoma of the cerebellum" EXACT [NCIT:C8419, Orphanet:65285] synonym: "LDD" EXACT ABBREVIATION [Orphanet:65285] xref: GARD:6901 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:65285/attributed", source="Orphanet:65285/ntbt", source="Orphanet:65285"} @@ -429541,7 +429627,7 @@ subset: orphanet_rare {source="Orphanet:653"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MEN2" EXACT ABBREVIATION [Orphanet:653] -synonym: "multiple endocrine neoplasia type 2" EXACT [NCIT:C123329] +synonym: "multiple endocrine neoplasia type 2" EXACT [icd11.foundation:1837913809, NCIT:C123329, Orphanet:653] xref: GARD:3830 {source="MONDO:GARD"} xref: ICD10CM:D44.8 {source="Orphanet:653", source="Orphanet:653/attributed", source="Orphanet:653/ntbt"} xref: icd11.foundation:1837913809 {source="MONDO:equivalentTo"} @@ -429569,30 +429655,30 @@ subset: ordo_disorder {source="Orphanet:654"} subset: orphanet_rare {source="Orphanet:654"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult nephroblastoma" NARROW [DOID:2154] -synonym: "adult renal Wilms' tumor" NARROW EXCLUDE [DOID:2154] +synonym: "adult nephroblastoma" NARROW [] +synonym: "adult renal Wilms' tumor" NARROW EXCLUDE [] synonym: "adult renal Wilms' tumour" NARROW OMO:0003005 [] -synonym: "childhood renal Wilms tumor" NARROW [DOID:2154] +synonym: "childhood renal Wilms tumor" NARROW [] synonym: "childhood renal Wilms tumour" NARROW OMO:0003005 [] -synonym: "childhood renal Wilms' cancer" NARROW [DOID:2154] -synonym: "embryonal nephroma" NARROW [NCIT:C40407] +synonym: "childhood renal Wilms' cancer" NARROW [] +synonym: "embryonal nephroma" NARROW [] synonym: "kidney Wilms tumor" EXACT [NCIT:C40407] -synonym: "nephroblastoma" EXACT [NCIT:C40407] +synonym: "nephroblastoma" EXACT [DOID:2154, NCIT:C40407, Orphanet:654] synonym: "nephroblastoma, malignant" EXACT [NCIT:C40407] -synonym: "nonanaplastic renal Wilm's tumor" NARROW [DOID:5176] +synonym: "nonanaplastic renal Wilm's tumor" NARROW [] synonym: "nonanaplastic renal Wilm's tumour" NARROW OMO:0003005 [] synonym: "renal embryonic tumor" EXACT [Orphanet:654] synonym: "renal embryonic tumour" EXACT OMO:0003005 [] synonym: "renal Wilms tumor" EXACT [NCIT:C40407] synonym: "renal Wilms tumour" EXACT OMO:0003005 [] -synonym: "renal Wilms' tumor" EXACT [NCIT:C40407] -synonym: "renal Wilms' tumour" EXACT OMO:0003005 [] -synonym: "Wilms tumor" BROAD [Orphanet:654] +synonym: "renal Wilms' tumor" EXACT [DOID:5176, NCIT:C40407] +synonym: "renal Wilms' tumour" EXACT OMO:0003005 [DOID:5176] +synonym: "Wilms tumor" BROAD [] synonym: "Wilms tumor of the kidney" EXACT [NCIT:C40407] synonym: "Wilms tumour" BROAD OMO:0003005 [] synonym: "Wilms tumour of the kidney" EXACT OMO:0003005 [] synonym: "Wilms' Tumor" EXACT [NORD:1855] -synonym: "Wilms' tumor" BROAD [NCIT:C40407] +synonym: "Wilms' tumor" BROAD [] synonym: "Wilms' tumor of the kidney" EXACT [NCIT:C40407] synonym: "Wilms' tumour" BROAD OMO:0003005 [] synonym: "Wilms' tumour of the kidney" EXACT OMO:0003005 [] @@ -429629,7 +429715,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "medullary cystic disease" EXACT [DOID:12712] synonym: "medullary cystic kidney" EXACT [DOID:12712, ICD9CM:753.16] -synonym: "nephronophthisis" EXACT [MONDO:ambiguous] +synonym: "nephronophthisis" EXACT [DOID:12712, icd11.foundation:158151813, MONDO:ambiguous, NCIT:C123200, OMIMPS:256100, Orphanet:655] synonym: "nephronophthisis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:12712 {source="MONDO:equivalentTo"} xref: GARD:206 {source="MONDO:GARD"} @@ -429664,7 +429750,7 @@ subset: ordo_disorder {source="Orphanet:656"} subset: orphanet_rare {source="Orphanet:656"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "familial idiopathic nephrotic syndrome" EXACT [Orphanet:656] +synonym: "familial idiopathic nephrotic syndrome" EXACT [] xref: GARD:3946 {source="MONDO:GARD"} xref: ICD10CM:N04.1 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"} xref: ICD10CM:N04.3 {source="Orphanet:656", source="Orphanet:656/attributed", source="Orphanet:656/btnt"} @@ -429710,9 +429796,10 @@ subset: ordo_disorder {source="Orphanet:65682"} subset: orphanet_rare {source="Orphanet:65682"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bric" EXACT [Orphanet:65682] +synonym: "BRIC" EXACT ABBREVIATION [DOID:0070230, Orphanet:65682] +synonym: "Bric" EXACT [] synonym: "cholestasis, benign recurrent intrahepatic" EXACT [OMIMPS:243300] -synonym: "Summerskill-Walshe-Tygstrup syndrome" EXACT [Orphanet:65682] +synonym: "Summerskill-Walshe-Tygstrup syndrome" EXACT [DOID:0070230, icd11.foundation:288945286, Orphanet:65682] xref: DOID:0070230 {source="MONDO:equivalentTo"} xref: GARD:12185 {source="MONDO:GARD"} xref: ICD10CM:K83.1 {source="Orphanet:65682/attributed", source="Orphanet:65682/ntbt", source="Orphanet:65682"} @@ -429759,15 +429846,15 @@ subset: nord_rare {source="NORD:999", source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:657"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chi" EXACT [Orphanet:657] +synonym: "chi" EXACT [] synonym: "Congenital Hyperinsulinism" EXACT [NORD:999] synonym: "congenital hyperinsulinism" RELATED [GARD:0003947] synonym: "hyperinsulinemic hypoglycemia familial" RELATED [GARD:0003947] synonym: "hyperinsulinism congenital" RELATED [GARD:0003947] synonym: "hyperinsulinism familial with pancreatic nesidioblastosis" RELATED [GARD:0003947] synonym: "hypoglycemia hyperinsulinemic of infancy" RELATED [GARD:0003947] -synonym: "persistent hyperinsulinemic hypoglycemia of infancy" EXACT [Orphanet:657] -synonym: "PHHI" EXACT ABBREVIATION [Orphanet:657] +synonym: "persistent hyperinsulinemic hypoglycemia of infancy" EXACT [NCIT:C122923, Orphanet:657] +synonym: "PHHI" EXACT ABBREVIATION [NCIT:C122923, Orphanet:657] xref: GARD:3947 {source="MONDO:GARD"} xref: ICD10CM:E16.1 {source="Orphanet:657/attributed", source="Orphanet:657/ntbt", source="Orphanet:657"} xref: MESH:D044903 {source="Orphanet:657", source="Orphanet:657/e"} @@ -429822,7 +429909,7 @@ synonym: "acrocephalopolysyndactyly type 2" EXACT [Orphanet:65759] synonym: "acrocephalopolysyndactyly type II" EXACT [DOID:0060234, NCIT:C98873] synonym: "acrocephalosyndactyly, type II" RELATED [GARD:0006003] synonym: "Carpenter 's syndrome" EXACT [NCIT:C98873] -synonym: "Carpenter syndrome" EXACT [NCIT:C98873] +synonym: "Carpenter syndrome" EXACT [DOID:0060234, icd11.foundation:2132713612, NCIT:C98873, OMIMPS:201000, Orphanet:65759] synonym: "type II Acrocephalopolysyndactyly" EXACT [NCIT:C98873] xref: DOID:0060234 {source="MONDO:equivalentTo"} xref: GARD:6003 {source="MONDO:GARD"} @@ -429885,9 +429972,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:660"} subset: orphanet_rare {source="Orphanet:660"} subset: rare synonym: "congenital omphalocele" EXACT [NCIT:C98997] -synonym: "eventration" BROAD [NCIT:C98997] -synonym: "exomphalos" EXACT [NCIT:C98997] -synonym: "omphalocele" EXACT [MONDO:ambiguous] +synonym: "eventration" BROAD [] +synonym: "exomphalos" EXACT [DOID:0060327, icd11.foundation:1168696429, NCIT:C98997] +synonym: "omphalocele" EXACT [DOID:0060327, icd11.foundation:1168696429, MONDO:ambiguous, NCIT:C98997, Orphanet:660] synonym: "omphalocele (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "omphalocoele" EXACT [DOID:0060327] xref: DOID:0060327 {source="MONDO:equivalentTo"} @@ -429967,19 +430054,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute stress cardiomyopathy" RELATED [GARD:0009400] synonym: "ampulla cardiomyopathy" EXACT [Orphanet:66529] -synonym: "apical ballooning syndrome" EXACT [Orphanet:66529] +synonym: "apical ballooning syndrome" EXACT [icd11.foundation:478139552, Orphanet:66529] synonym: "ASC" RELATED ABBREVIATION [GARD:0009400] synonym: "ballooning cardiomyopathy" EXACT [Orphanet:66529] -synonym: "broken heart syndrome" EXACT [Orphanet:66529] +synonym: "broken heart syndrome" EXACT [icd11.foundation:478139552, Orphanet:66529] synonym: "broken-heart syndrome" RELATED [GARD:0009400] synonym: "left ventricular transient apical ballooning" RELATED [GARD:0009400] -synonym: "stress cardiomyopathy" EXACT [Orphanet:66529] +synonym: "stress cardiomyopathy" EXACT [icd11.foundation:478139552, Orphanet:66529] synonym: "stress-induced cardiomyopathy" RELATED [GARD:0009400] synonym: "Tako tsubo syndrome" RELATED [GARD:0009400] synonym: "Tako-Tsubo syndrome" EXACT [Orphanet:66529] -synonym: "Takotsubo Cardiomyopathy" EXACT [NORD:2006] -synonym: "Takotsubo cardiomyopathy" EXACT [Orphanet:66529] -synonym: "Takotsubo syndrome" EXACT [Orphanet:66529] +synonym: "Takotsubo Cardiomyopathy" EXACT [icd11.foundation:478139552, NCIT:C85181, NORD:2006, Orphanet:66529] +synonym: "Takotsubo cardiomyopathy" EXACT [icd11.foundation:478139552, NCIT:C85181, Orphanet:66529] +synonym: "Takotsubo syndrome" EXACT [NCIT:C85181, Orphanet:66529] synonym: "transient antero-apical dyskinesia" RELATED [GARD:0009400] synonym: "transient left ventricular apical ballooning syndrome" EXACT [Orphanet:66529] xref: EFO:1002000 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -430006,14 +430093,14 @@ subset: ordo_disorder {source="Orphanet:666"} subset: orphanet_rare {source="Orphanet:666"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brittle bone disease" EXACT [DOID:12347, Orphanet:666] +synonym: "brittle bone disease" EXACT [DOID:12347, icd11.foundation:1219932551, Orphanet:666] synonym: "Fragilitas ossium" RELATED [DOID:12347] synonym: "glass bone disease" EXACT [Orphanet:666] synonym: "Lobstein disease" EXACT [Orphanet:666] synonym: "Lobstein's syndrome" EXACT [DOID:12347] synonym: "OI" EXACT ABBREVIATION [Orphanet:666] -synonym: "Osteopsathyrosis" EXACT [DOID:12347, Orphanet:666] -synonym: "Porak and Durante disease" EXACT [Orphanet:666] +synonym: "Osteopsathyrosis" EXACT [DOID:12347, ICD10CM:Q78.0, icd11.foundation:1219932551] +synonym: "Porak and Durante disease" EXACT [] synonym: "Vrolik disease" RELATED [GARD:0001017] synonym: "Vrolik's disease" EXACT [DOID:12347] xref: DOID:12347 {source="MONDO:equivalentTo"} @@ -430113,10 +430200,10 @@ subset: rare synonym: "CM" EXACT ABBREVIATION [DOID:3663, NCIT:C7137] synonym: "CMCD" RELATED ABBREVIATION [ONCOTREE:CMCD] synonym: "cutaneous (skin) mastocytosis" EXACT [NCIT:C7137] -synonym: "cutaneous mastocytosis" EXACT [MONDO:ambiguous, NCIT:C7137] +synonym: "cutaneous mastocytosis" EXACT [DOID:3663, icd11.foundation:1300710062, MONDO:ambiguous, NCIT:C7137, Orphanet:66646] synonym: "cutaneous mastocytosis (disease)" EXACT [MONDO:0002723] -synonym: "mastocytosis, cutaneous" EXACT [OMIM:154800, OMIM:genemap2] -synonym: "mastocytosis, systemic, somatic" EXACT [OMIM:154800, OMIM:genemap2] +synonym: "mastocytosis, cutaneous" EXACT [OMIM:154800] +synonym: "mastocytosis, systemic, somatic" EXACT [] xref: DOID:3663 {source="MONDO:equivalentTo"} xref: EFO:1000886 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7842 {source="MONDO:GARD"} @@ -430148,8 +430235,8 @@ subset: ordo_disorder {source="Orphanet:66661"} subset: orphanet_rare {source="Orphanet:66661"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mast cell sarcoma" EXACT [MONDO:0006296, MONDO:patterns/location] -synonym: "mast-cell sarcoma" EXACT [MONDO:0002686] +synonym: "mast cell sarcoma" EXACT [icd11.foundation:233404891, MONDO:0006296, MONDO:patterns/location, NCIT:C9348, Orphanet:66661] +synonym: "mast-cell sarcoma" EXACT [DOID:355, MONDO:0002686] synonym: "MCS" EXACT ABBREVIATION [NCIT:C9348] synonym: "MCSL" RELATED ABBREVIATION [ONCOTREE:MCSL] synonym: "sarcoma of mast cell" EXACT [MONDO:patterns/sarcoma] @@ -430188,7 +430275,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:66662"} subset: orphanet_rare {source="Orphanet:66662"} subset: rare -synonym: "extracutaneous mastocytoma" EXACT [DOID:4659, NCIT:C7136] +synonym: "extracutaneous mastocytoma" EXACT [DOID:4659, icd11.foundation:29932455, NCIT:C7136, Orphanet:66662] xref: DOID:4659 {source="MONDO:equivalentTo", source="EFO:1000932"} xref: GARD:18871 {source="MONDO:GARD"} xref: ICD10CM:C96.2 {source="Orphanet:66662/ntbt", source="Orphanet:66662"} @@ -430219,7 +430306,7 @@ synonym: "autosomal recessive malignant osteopetrosis" EXACT [Orphanet:667] synonym: "autosomal recessive osteopetrosis" EXACT [NCIT:C129733] synonym: "autosomal recessive osteopetrosis (disease)" EXACT [] synonym: "infantile malignant osteopetrosis" EXACT [Orphanet:667] -synonym: "malignant osteopetrosis" RELATED [NCIT:C129733] +synonym: "malignant osteopetrosis" RELATED [] synonym: "OPTB" EXACT ABBREVIATION [] synonym: "osteopetrosis (disease), autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: GARD:15012 {source="MONDO:GARD"} @@ -430247,7 +430334,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "oto-palatal-digital syndrome" EXACT [GARD:0007293] synonym: "oto-palato-digital syndrome" EXACT [] -synonym: "Taybi syndrome" RELATED EXCLUDE [Orphanet:669] +synonym: "Taybi syndrome" RELATED EXCLUDE [] synonym: "type 2 (Andre syndrome)" NARROW [GARD:0007293] xref: GARD:7293 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:669/ntbt", source="Orphanet:669", source="Orphanet:669/index"} @@ -430297,7 +430384,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:67039"} subset: orphanet_rare {source="Orphanet:67039"} subset: rare -synonym: "SOD" EXACT ABBREVIATION [Orphanet:67039] +synonym: "SOD" EXACT ABBREVIATION [] xref: GARD:18872 {source="MONDO:GARD"} xref: ICD10CM:K00.4 {source="Orphanet:67039", source="Orphanet:67039/ntbt"} xref: icd11.foundation:1309035766 {source="MONDO:equivalentTo"} @@ -430411,7 +430498,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:677"} subset: orphanet_rare {source="Orphanet:677"} subset: rare -synonym: "pancreatoblastoma (morphologic abnormality)" EXACT [DOID:6823] +synonym: "pancreatoblastoma (morphologic abnormality)" EXACT [] synonym: "PB" RELATED ABBREVIATION [ONCOTREE:PB] xref: DOID:6823 {source="MONDO:equivalentTo"} xref: GARD:4210 {source="MONDO:GARD"} @@ -430462,7 +430549,7 @@ synonym: "familial progressive supranuclear palsy (type)" RELATED [GARD:0007471] synonym: "progressive supranuclear ophthalmoplegia" EXACT [DOID:678] synonym: "PSP syndrome" EXACT [Orphanet:683] synonym: "Steele-Richardson-Olszewski disease" EXACT [https://orcid.org/0000-0002-1780-5230] -synonym: "Steele-Richardson-Olszewski syndrome" EXACT [DOID:678] +synonym: "Steele-Richardson-Olszewski syndrome" EXACT [DOID:678, NCIT:C85028] synonym: "supranuclear palsy, progressive" RELATED [GARD:0007471] xref: DOID:678 {source="MONDO:equivalentTo"} xref: GARD:7471 {source="MONDO:GARD"} @@ -430498,7 +430585,7 @@ id: MONDO:0019038 name: obsolete rare maxillo-facial surgical disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68329"} -synonym: "rare maxillofacial anomaly" EXACT [Orphanet:68329] +synonym: "rare maxillofacial anomaly" EXACT [] xref: Orphanet:68329 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -430510,8 +430597,8 @@ id: MONDO:0019039 name: obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68334"} -synonym: "rare bleeding disorder due to a constitutional coagulation factors defect" EXACT [Orphanet:68334] -synonym: "rare coagulopathy due to a constitutional coagulation factors defect" EXACT [Orphanet:68334] +synonym: "rare bleeding disorder due to a constitutional coagulation factors defect" EXACT [] +synonym: "rare coagulopathy due to a constitutional coagulation factors defect" EXACT [] xref: Orphanet:68334 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -430529,12 +430616,12 @@ subset: rare_grouping synonym: "autosomal chromosome disorder" RELATED [MESH:D025063] synonym: "autosomal chromosome disorders" RELATED [MESH:D025063] synonym: "chromosomal anomaly" RELATED EXCLUDE [] -synonym: "chromosomal disease" EXACT [MONDO:0000838] +synonym: "chromosomal disease" EXACT [DOID:0080014, MONDO:0000838] synonym: "chromosomal disorder" EXACT [MESH:D025063] synonym: "chromosomal disorders" EXACT [MESH:D025063] synonym: "chromosome abnormality disorder" RELATED [MESH:D025063] synonym: "chromosome abnormality disorders" RELATED [MESH:D025063] -synonym: "chromosome disorder" EXACT [MESH:D025063] +synonym: "chromosome disorder" EXACT [MESH:D025063, NCIT:C34470] synonym: "chromosome disorder, autosomal" RELATED [MESH:D025063] synonym: "chromosome disorders, autosomal" RELATED [MESH:D025063] synonym: "disorder, chromosomal" EXACT [MESH:D025063] @@ -430565,7 +430652,7 @@ id: MONDO:0019041 name: obsolete rare genetic inherited tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68336"} -synonym: "rare genetic tumor" RELATED [Orphanet:68336] +synonym: "rare genetic tumor" RELATED [] xref: Orphanet:68336 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -430593,7 +430680,7 @@ id: MONDO:0019043 name: obsolete rare genetic skin disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68346"} -synonym: "rare genodermatosis" EXACT [Orphanet:68346] +synonym: "rare genodermatosis" EXACT [] xref: Orphanet:68346 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -430639,9 +430726,9 @@ subset: ordo_group_of_disorders {source="Orphanet:68356"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HLD" EXACT ABBREVIATION [DOID:0060786] -synonym: "hypomyelinating leukodystrophy" EXACT [MONDO:0000825] +synonym: "hypomyelinating leukodystrophy" EXACT [DOID:0060786, MONDO:0000825] synonym: "hypomyelinating leukoencephalopathy" RELATED [https://orcid.org/0000-0002-6601-2165] -synonym: "leukodystrophy, hypomyelinating" RELATED [OMIMPS:312080] +synonym: "leukodystrophy, hypomyelinating" RELATED [] xref: DOID:0050987 {source="MONDO:equivalentTo"} xref: DOID:0060786 {source="MONDO:equivalentTo"} xref: DOID:10579 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -430673,9 +430760,9 @@ name: obsolete rare deafness def: "OBSOLETE. Any of the forms of hearing loss that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68361"} -synonym: "complete deafness" EXACT [NCIT:C36194] +synonym: "complete deafness" EXACT [] synonym: "rare hearing loss" EXACT [MONDO:patterns/rare] -synonym: "total deafness" EXACT [NCIT:C36194] +synonym: "total deafness" EXACT [] xref: NCIT:C36194 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:68361 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -430702,7 +430789,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68363"} synonym: "rare dystonia" EXACT [] synonym: "rare dystonia (disease)" EXACT [MONDO:patterns/rare] -synonym: "rare dystonic disorder" EXACT [MONDO:patterns/rare, Orphanet:68363] +synonym: "rare dystonic disorder" EXACT [MONDO:patterns/rare] xref: Orphanet:68363 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -430718,7 +430805,7 @@ subset: ordo_group_of_disorders {source="Orphanet:68364"} subset: rare synonym: "hemoglobinopathies" EXACT [DOID:2860] synonym: "Hemoglobinopathies / iron metabolism" EXACT [NCIT:C3092] -synonym: "hemoglobinopathy" RELATED [DOID:2860] +synonym: "hemoglobinopathy" RELATED [] synonym: "hereditary hemoglobinopathy" EXACT [MONDO:patterns/hereditary] xref: DOID:2860 {source="MONDO:equivalentTo"} xref: GARD:18883 {source="MONDO:GARD"} @@ -430774,16 +430861,16 @@ synonym: "congenital metabolism disorder" EXACT [NCIT:C34816] synonym: "hereditary metabolic disease" EXACT [MONDO:patterns/hereditary] synonym: "inborn disorders of metabolism" EXACT [https://orcid.org/0000-0001-6330-7526] synonym: "inborn error of metabolism" EXACT [NCIT:C34816] -synonym: "inborn errors of metabolism" EXACT CLINGEN_LABEL [DOID:655, NCIT:C34816] +synonym: "inborn errors of metabolism" EXACT CLINGEN_LABEL [DOID:655, icd11.foundation:733825440, NCIT:C34816] synonym: "inborn metabolic disorder" EXACT [https://orcid.org/0000-0001-6330-7526] synonym: "inborn metabolism disorder" EXACT [DOID:655] synonym: "inherited disorder of metabolism" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "inherited disorders of metabolism" EXACT [https://orcid.org/0000-0002-0736-9199] -synonym: "inherited metabolic disorder" EXACT [MONDO:0003919] +synonym: "inherited metabolic disorder" EXACT [DOID:655, MONDO:0003919] synonym: "metabolic hereditary disorder" EXACT [DOID:655] -synonym: "rare inborn errors of metabolism" NARROW [Orphanet:68367] +synonym: "rare inborn errors of metabolism" NARROW [] synonym: "rare inherited metabolic disorder" NARROW [] -synonym: "rare metabolic disease" RELATED [Orphanet:68367] +synonym: "rare metabolic disease" RELATED [] xref: DOID:655 {source="MONDO:equivalentTo"} xref: GARD:22508 {source="MONDO:GARD"} xref: icd11.foundation:733825440 {source="MONDO:equivalentTo"} @@ -430814,7 +430901,7 @@ subset: ordo_group_of_disorders {source="Orphanet:68373"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "disorder of peroxisomal function" EXACT [NCIT:C85005] -synonym: "peroxisomal disease" EXACT CLINGEN_LABEL [NCIT:C85005] +synonym: "peroxisomal disease" EXACT CLINGEN_LABEL [DOID:906, Orphanet:68373] synonym: "peroxisomal disorder" EXACT [DOID:906, ICD9CM:277.86, NCIT:C85005] synonym: "peroxisomal function disorder" EXACT [NCIT:C85005] xref: DOID:906 {source="MONDO:equivalentTo"} @@ -430843,7 +430930,7 @@ id: MONDO:0019054 name: congenital limb malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68378"} -synonym: "congenital limb malformation" EXACT CLINGEN_LABEL [] +synonym: "congenital limb malformation" EXACT CLINGEN_LABEL [Orphanet:68378] xref: Orphanet:68378 {source="MONDO:equivalentTo"} is_a: MONDO:0019755 {source="Orphanet:68378"} ! developmental defect during embryogenesis relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -430866,7 +430953,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68381"} subset: otar {source="MONDO:OTAR"} synonym: "nerve and muscle disorder" EXACT [ISBN-13:978-1-259-64403-0] -synonym: "neuromuscular disease" EXACT [MONDO:0002986] +synonym: "neuromuscular disease" EXACT [DOID:440, MONDO:0002986, Orphanet:68381] xref: DOID:440 {source="MONDO:equivalentTo"} xref: EFO:1001902 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:G70-G73 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -430911,7 +430998,7 @@ name: obsolete rare parkinsonian disorder def: "OBSOLETE. Rare parkinsonian disorder." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:68402"} -synonym: "rare hypokinetic movement disorder" EXACT [Orphanet:68402] +synonym: "rare hypokinetic movement disorder" EXACT [] synonym: "rare parkinsonian disorder" EXACT [MONDO:patterns/rare] xref: Orphanet:68402 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -430944,7 +431031,7 @@ synonym: "osseous tumor" EXACT [NCIT:C9343] synonym: "osseous tumour" EXACT OMO:0003005 [] synonym: "primary bone cancer" RELATED [GARD:0013223] synonym: "primary malignant neoplasm of bone" RELATED [GARD:0013223] -synonym: "rare bone tumor" RELATED [Orphanet:68411] +synonym: "rare bone tumor" RELATED [] synonym: "rare bone tumour" RELATED OMO:0003005 [] synonym: "tumor of bone" EXACT [NCIT:C9343] synonym: "tumor of bone tissue" EXACT [MONDO:patterns/neoplasm] @@ -430995,7 +431082,7 @@ id: MONDO:0019063 name: obsolete vascular anomaly subset: ordo_group_of_disorders {source="Orphanet:68419"} subset: otar {source="MONDO:OTAR"} -synonym: "vascular anomaly or angioma" RELATED [Orphanet:68419] +synonym: "vascular anomaly or angioma" RELATED [] xref: Orphanet:68419 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0019755 {source="Orphanet:68419", source="https://orcid.org/0000-0001-5208-3432"} ! developmental defect during embryogenesis relationship: excluded_subClassOf MONDO:0020015 {source="Orphanet:68419", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete rare circulatory system disease @@ -431016,12 +431103,12 @@ subset: ordo_group_of_disorders {source="Orphanet:685"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial spastic paraparesis" RELATED [GARD:0006637] -synonym: "familial spastic paraplegia" EXACT [DOID:2476, Orphanet:685] +synonym: "familial spastic paraplegia" EXACT [DOID:2476, icd11.foundation:810807375, Orphanet:685] synonym: "French settlement disease" EXACT [DOID:2476] synonym: "FSP" RELATED ABBREVIATION [GARD:0006637] synonym: "hereditary spastic paraparesis" EXACT [DOID:2476, Orphanet:685] synonym: "HSP" EXACT ABBREVIATION [Orphanet:685] -synonym: "spastic paraplegia" BROAD [OMIMPS:303350] +synonym: "spastic paraplegia" BROAD [] synonym: "SPG" EXACT ABBREVIATION [Orphanet:685] synonym: "Strumpell-Lorrain disease" EXACT [DOID:2476] synonym: "Strümpell-Lorrain disease" EXACT [Orphanet:685] @@ -431063,10 +431150,10 @@ subset: gard_rare {source="GARD:18676", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:69"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amyloid" EXACT [NCIT:C2868] -synonym: "amyloid disease" EXACT [DOID:9120] +synonym: "amyloid" EXACT [icd11.foundation:2078467774] +synonym: "amyloid disease" EXACT [DOID:9120, icd11.foundation:2078467774] synonym: "amyloidoses" EXACT [MESH:D000686] -synonym: "amyloidosis" EXACT [MONDO:ambiguous] +synonym: "amyloidosis" EXACT [DOID:9120, icd11.foundation:2078467774, MONDO:ambiguous, NCIT:C2868, Orphanet:69] synonym: "amyloidosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0004711] xref: DOID:9120 {source="MONDO:equivalentTo"} xref: EFO:1001875 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -431103,7 +431190,7 @@ name: obsolete syndrome with brachydactyly def: "OBSOLETE. Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis." [Orphanet:69028] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:69028"} -synonym: "dysostosis with brachydactyly" RELATED [Orphanet:69028] +synonym: "dysostosis with brachydactyly" RELATED [] xref: ICD10CM:Q73.8 {source="Orphanet:69028/attributed", source="Orphanet:69028/ntbt", source="Orphanet:69028"} xref: Orphanet:69028 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -431210,11 +431297,11 @@ name: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome subset: gard_rare {source="GARD:2492", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "glomerulonephritis with sparse hair and telangiectases" RELATED [OMIM:137940] -synonym: "HLTRS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:137940] -synonym: "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome" EXACT [Orphanet:69735] -synonym: "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" EXACT [MONDO:Lexical, OMIM:137940] -synonym: "telangiectatic membranoproliferative glomerulonephritis" RELATED [OMIM:137940] +synonym: "glomerulonephritis with sparse hair and telangiectases" RELATED [] +synonym: "HLTRS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome" EXACT [DOID:0111360] +synonym: "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" EXACT [DOID:0111360, MONDO:Lexical, OMIM:137940] +synonym: "telangiectatic membranoproliferative glomerulonephritis" RELATED [] xref: DOID:0111360 {source="MONDO:equivalentTo"} xref: GARD:2492 {source="MONDO:GARD"} xref: MEDGEN:1373459 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -431255,7 +431342,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:69737"} subset: orphanet_rare {source="Orphanet:69737"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BSAS" EXACT [OMIM:601536] +synonym: "BSAS" EXACT [] xref: GARD:16684 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:69737/attributed", source="Orphanet:69737/ntbt", source="Orphanet:69737"} xref: icd11.foundation:1771217937 {source="MONDO:equivalentTo"} @@ -431293,7 +431380,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:69745"} subset: orphanet_rare {source="Orphanet:69745"} subset: rare -synonym: "follicular dyskeratoma" EXACT [Orphanet:69745] +synonym: "follicular dyskeratoma" EXACT [NCIT:C4087, Orphanet:69745] synonym: "isolated follicular keratosis" EXACT [NCIT:C4087] xref: GARD:18899 {source="MONDO:GARD"} xref: icd11.foundation:1427186445 {source="MONDO:equivalentTo"} @@ -431317,17 +431404,17 @@ subset: ordo_malformation_syndrome {source="Orphanet:7"} subset: orphanet_rare {source="Orphanet:7"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3C syndrome" EXACT [DOID:0060565, GARD:0005666] +synonym: "3C syndrome" EXACT [GARD:0005666, Orphanet:7] synonym: "CCC dysplasia" EXACT [DOID:0060565, MESH:C535313] synonym: "cranio-cerebello-cardiac dysplasia" RELATED [GARD:0005666] -synonym: "Craniocerebellocardiac dysplasia" EXACT [Orphanet:7] -synonym: "craniocerebellocardiac dysplasia" EXACT [DOID:0060565] +synonym: "Craniocerebellocardiac dysplasia" EXACT [DOID:0060565, Orphanet:7] +synonym: "craniocerebellocardiac dysplasia" EXACT [DOID:0060565, Orphanet:7] synonym: "Dandy-Walker like malformation with atrioventricular septal defect" RELATED [GARD:0005666] synonym: "Dandy-Walker-like malformation with ASD" RELATED [GARD:0005666] synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" RELATED [MESH:C535313] synonym: "Ritscher Schinzel syndrome" RELATED [GARD:0005666, MESH:C535313] synonym: "Ritscher-Schinzel cranio-cerebello-cardiac syndrome" RELATED [GARD:0005666] -synonym: "Ritscher-Schinzel syndrome" EXACT [MESH:C535313, Orphanet:7] +synonym: "Ritscher-Schinzel syndrome" EXACT [DOID:0060565, MESH:C535313, OMIMPS:220210, Orphanet:7] xref: DOID:0060565 {source="MONDO:equivalentTo"} xref: GARD:5666 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:7", source="Orphanet:7/attributed", source="Orphanet:7/ntbt", source="DOID:0060565"} @@ -431381,7 +431468,7 @@ subset: ordo_disorder {source="Orphanet:700"} subset: orphanet_rare {source="Orphanet:700"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alopecia totalis" EXACT [] +synonym: "alopecia totalis" EXACT [icd11.foundation:1633035058, Orphanet:700] synonym: "total alopecia areata" RELATED [] xref: GARD:613 {source="MONDO:GARD"} xref: ICD10CM:L63.0 {source="Orphanet:700", source="Orphanet:700/e", source="Orphanet:700/specific"} @@ -431411,7 +431498,7 @@ subset: orphanet_rare {source="Orphanet:703"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign pemphigus" RELATED [GARD:0005972] -synonym: "bullous pemphigoid" EXACT [DOID:8506, MONDO:0005685, MTH:NOCODE] +synonym: "bullous pemphigoid" EXACT [DOID:8506, ICD10CM:L12.0, icd11.foundation:233308710, MONDO:0005685, MTH:NOCODE, NCIT:C84389, Orphanet:703] synonym: "Old Age pemphigus" RELATED [GARD:0005972] synonym: "Parapemphigus" RELATED [GARD:0005972] synonym: "pemphigoid" RELATED EXCLUDE [GARD:0005972] @@ -431446,9 +431533,9 @@ subset: gard_rare {source="GARD:16685", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency" EXACT [Orphanet:70474] -synonym: "cardiomyopathy with myopathy due to COX deficiency" EXACT [Orphanet:70474] -synonym: "Leigh disease with myopathy" EXACT [Orphanet:70474] +synonym: "cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency" EXACT [] +synonym: "cardiomyopathy with myopathy due to COX deficiency" EXACT [icd11.foundation:583594497] +synonym: "Leigh disease with myopathy" EXACT [] xref: GARD:16685 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:70474/attributed", source="Orphanet:70474/ntbt", source="Orphanet:70474"} xref: icd11.foundation:583594497 {source="MONDO:equivalentTo"} @@ -431514,17 +431601,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:70482"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of esophagus" NARROW [DOID:1107, NCIT:C3513] +synonym: "cancer of esophagus" NARROW [] synonym: "cancer of oesophagus" NARROW OMO:0003005 [] -synonym: "cancer of the esophagus" NARROW [NCIT:C3513] +synonym: "cancer of the esophagus" NARROW [] synonym: "cancer of the oesophagus" NARROW OMO:0003005 [] -synonym: "carcinoma of esophagus" EXACT [DOID:1107, MONDO:patterns/carcinoma, MTH:NOCODE, NCIT:C3513] +synonym: "carcinoma of esophagus" EXACT [DOID:1107, MONDO:patterns/carcinoma, MTH:NOCODE, NCIT:C3513, Orphanet:70482] synonym: "carcinoma of the esophagus" EXACT [NCIT:C3513] synonym: "carcinoma of the oesophagus" EXACT OMO:0003005 [] -synonym: "Esophageal cancer" EXACT [] -synonym: "esophageal cancer" NARROW [NCIT:C3513] -synonym: "esophageal cancer, NOS" NARROW [NCIT:C3513] -synonym: "esophageal carcinoma" EXACT [MONDO:0001189, NCIT:C3513, Orphanet:70482] +synonym: "Esophageal cancer" EXACT [NCIT:C3513] +synonym: "esophageal cancer" NARROW [] +synonym: "esophageal cancer, NOS" NARROW [] +synonym: "esophageal carcinoma" EXACT [DOID:1107, MONDO:0001189, NCIT:C3513, Orphanet:70482] synonym: "esophagus carcinoma" EXACT [MONDO:patterns/location, NCIT:C3513] synonym: "oesophagus carcinoma" EXACT OMO:0003005 [] xref: DOID:1107 {source="MONDO:equivalentTo"} @@ -431554,18 +431641,18 @@ subset: ordo_disorder {source="Orphanet:70567"} subset: orphanet_rare {source="Orphanet:70567"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult primary cholangiocarcinoma" EXACT [DOID:4947, NCIT:C8265] +synonym: "adult primary cholangiocarcinoma" EXACT [DOID:4947] synonym: "adult primary cholangiocellular carcinoma" EXACT [DOID:4947] -synonym: "bile duct cancer" BROAD [Orphanet:70567] +synonym: "bile duct cancer" BROAD [] synonym: "CC" EXACT ABBREVIATION [NCIT:C4436] synonym: "CCA" EXACT ABBREVIATION [Orphanet:70567] -synonym: "Cholangiocar.- intra/extrahepatic" EXACT [NCIT:C4436] -synonym: "cholangiocarcinoma" EXACT [NCIT:C4436] -synonym: "cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)" EXACT [NCIT:C4436] +synonym: "Cholangiocar.- intra/extrahepatic" EXACT [] +synonym: "cholangiocarcinoma" EXACT [DOID:4947, NCIT:C4436, Orphanet:70567] +synonym: "cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)" EXACT [] synonym: "cholangiocarcinoma, malignant" EXACT [NCIT:C4436] synonym: "Cholangiocellular carcinoma" EXACT [NCIT:C4436] -synonym: "cholangiosarcoma" EXACT [DOID:4947, NCIT:C4436] -synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" BROAD [NCIT:C4436] +synonym: "cholangiosarcoma" EXACT [DOID:4947] +synonym: "intrahepatic bile duct cancer (cholangiocarcinoma)" BROAD [] xref: DOID:4947 {source="MONDO:equivalentTo", source="EFO:0005221"} xref: EFO:0005221 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:9304 {source="MONDO:GARD"} @@ -431605,7 +431692,7 @@ subset: orphanet_rare {source="Orphanet:70568"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "post-transplant lymphoproliferative disorder" EXACT [NCIT:C4727] -synonym: "PTLD" EXACT ABBREVIATION [Orphanet:70568] +synonym: "PTLD" EXACT ABBREVIATION [NCIT:C4727, Orphanet:70568] xref: GARD:9553 {source="MONDO:GARD"} xref: ICD10CM:D47.9 {source="Orphanet:70568/ntbt", source="Orphanet:70568"} xref: ICDO:9971/1 {source="NCIT:C4727"} @@ -431645,7 +431732,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:70589"} subset: orphanet_rare {source="Orphanet:70589"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BPD" EXACT ABBREVIATION [Orphanet:70589] +synonym: "BPD" EXACT ABBREVIATION [NCIT:C90599, Orphanet:70589] xref: DOID:11650 {source="MONDO:equivalentTo"} xref: GARD:5962 {source="MONDO:GARD"} xref: ICD10CM:P27.1 {source="Orphanet:70589", source="Orphanet:70589/e"} @@ -431739,8 +431826,8 @@ synonym: "black death" RELATED [] synonym: "infection by Yersinia pestis" RELATED [] synonym: "pest" RELATED [] synonym: "pestilential fever" RELATED [] -synonym: "plague" EXACT [] -synonym: "Yersiniosis" BROAD [Orphanet:707] +synonym: "plague" EXACT [DOID:3482, ICD10CM:A20, icd11.foundation:1596449540, NCIT:C85015, Orphanet:707] +synonym: "Yersiniosis" BROAD [] xref: DOID:3482 {source="MONDO:equivalentTo"} xref: EFO:0009425 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:18702 {source="MONDO:GARD"} @@ -431796,12 +431883,12 @@ name: obsolete hemorrhagic disorder due to a constitutional platelet anomaly def: "OBSOLETE. A hemorrhagic disorder due to a platelet anomaly which occurs from birth." [https://orcid.org/0000-0001-5208-3432] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:71202"} -synonym: "rare bleeding disorder due to a constitutional platelet anomaly" EXACT [Orphanet:71202] -synonym: "rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202] -synonym: "rare coagulopathy due to a constitutional platelet anomaly" EXACT [Orphanet:71202] -synonym: "rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202] -synonym: "rare hemorrhagic disorder due to a constitutional platelet anomaly" EXACT [Orphanet:71202] -synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [Orphanet:71202] +synonym: "rare bleeding disorder due to a constitutional platelet anomaly" EXACT [] +synonym: "rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [] +synonym: "rare coagulopathy due to a constitutional platelet anomaly" EXACT [] +synonym: "rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [] +synonym: "rare hemorrhagic disorder due to a constitutional platelet anomaly" EXACT [] +synonym: "rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia" EXACT [] xref: ICD10CM:D69.1 {source="Orphanet:71202", source="Orphanet:71202/attributed", source="Orphanet:71202/ntbt"} xref: Orphanet:71202 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -431836,7 +431923,7 @@ name: obsolete rare soft tissue tumor def: "OBSOLETE. Any of the forms of soft tissue neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:71209"} -synonym: "rare mesenchymal tumor" EXACT [Orphanet:71209] +synonym: "rare mesenchymal tumor" EXACT [] synonym: "rare soft tissue neoplasm" EXACT [MONDO:patterns/rare] xref: Orphanet:71209 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -431853,12 +431940,12 @@ subset: ordo_disorder {source="Orphanet:71211"} subset: orphanet_rare {source="Orphanet:71211"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Devic disease" EXACT [Orphanet:71211] +synonym: "Devic disease" EXACT [icd11.foundation:744293382, Orphanet:71211] synonym: "Devic syndrome" RELATED [GARD:0006267] -synonym: "Devic's disease" EXACT [DOID:8869, ICD10CM:G36.0] +synonym: "Devic's disease" EXACT [DOID:8869] synonym: "Devic's neuromyelitis optica" RELATED [GARD:0006267] synonym: "Devic's syndrome" EXACT [DOID:8869] -synonym: "Neuromyelitis Optica Spectrum Disorder" EXACT [NORD:1505] +synonym: "Neuromyelitis Optica Spectrum Disorder" EXACT [NORD:1505, Orphanet:71211] synonym: "NMO" RELATED ABBREVIATION [GARD:0006267] xref: DOID:8869 {source="EFO:0004256", source="MONDO:equivalentTo"} xref: EFO:0004256 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -431920,7 +432007,7 @@ is_a: MONDO:0021147 {source="MONDO:Redundant", source="Orphanet:71267", source=" id: MONDO:0019103 name: benign exophthalmos syndrome def: "Benign exophthalmos syndrome is characterized by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions." [Orphanet:71269] -synonym: "bes" EXACT [Orphanet:71269] +synonym: "bes" EXACT [] xref: ICD10CM:H05.2 {source="Orphanet:71269", source="Orphanet:71269/ntbt"} xref: icd11.foundation:1241377630 {source="MONDO:equivalentTo"} xref: MEDGEN:930337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -431990,16 +432077,16 @@ subset: ordo_disorder {source="Orphanet:71275"} subset: orphanet_rare {source="Orphanet:71275"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anemia, hemolytic, Rh-null, regulator type" EXACT [OMIM:268150, OMIM:genemap2] -synonym: "Rh deficiency syndrome" EXACT [OMIM:268150] -synonym: "Rh-Mod" RELATED [OMIM:268150] -synonym: "Rh-null disease" RELATED [OMIM:268150] -synonym: "Rh-null disease, regulator type" RELATED [OMIM:268150] -synonym: "Rh-null hemolytic Anemia, regulator type" RELATED [OMIM:268150] -synonym: "Rh-null syndrome" EXACT [Orphanet:71275] -synonym: "RH-null, regulator type" RELATED [MONDO:Lexical, OMIM:268150] -synonym: "RHN" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268150] -synonym: "RHNR" RELATED ABBREVIATION [OMIM:268150] +synonym: "anemia, hemolytic, Rh-null, regulator type" EXACT [] +synonym: "Rh deficiency syndrome" EXACT [DOID:0050641, icd11.foundation:1554765420, Orphanet:71275] +synonym: "Rh-Mod" RELATED [] +synonym: "Rh-null disease" RELATED [] +synonym: "Rh-null disease, regulator type" RELATED [] +synonym: "Rh-null hemolytic Anemia, regulator type" RELATED [] +synonym: "Rh-null syndrome" EXACT [icd11.foundation:1554765420, Orphanet:71275] +synonym: "RH-null, regulator type" RELATED [MONDO:Lexical] +synonym: "RHN" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "RHNR" RELATED ABBREVIATION [] xref: DOID:0050641 {source="MONDO:equivalentTo"} xref: GARD:12916 {source="MONDO:GARD"} xref: ICD10CM:D58.8 {source="Orphanet:71275/attributed", source="Orphanet:71275/ntbt", source="Orphanet:71275"} @@ -432024,7 +432111,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:71276"} subset: orphanet_rare {source="Orphanet:71276"} subset: rare -synonym: "Imploding antrum syndrome" EXACT [Orphanet:71276] +synonym: "Imploding antrum syndrome" EXACT [icd11.foundation:1204931989, Orphanet:71276] xref: GARD:18910 {source="MONDO:GARD"} xref: icd11.foundation:1204931989 {source="Orphanet:71276", source="MONDO:equivalentTo"} xref: ICD9:478.19 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -432046,7 +432133,7 @@ subset: rare synonym: "chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome" RELATED [GARD:0009778] synonym: "chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome" EXACT [Orphanet:71279] synonym: "chronic sensory ataxic neuropathy with anti-disialosyl antibodies" RELATED [GARD:0009778] -synonym: "chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies" EXACT [Orphanet:71279] +synonym: "chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies" EXACT [] xref: GARD:9778 {source="MONDO:GARD"} xref: ICD10CM:G61.8 {source="Orphanet:71279", source="Orphanet:71279/ntbt"} xref: MEDGEN:419872 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -432079,10 +432166,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial thrombocythemia" EXACT [Orphanet:71493] synonym: "hereditary thrombocythemia" EXACT [Orphanet:71493] -synonym: "hereditary thrombocytosis" EXACT [MONDO:patterns/hereditary] +synonym: "hereditary thrombocytosis" EXACT [icd11.foundation:1695088249, MONDO:patterns/hereditary] synonym: "hereditary thrombocytosis disease" EXACT [MONDO:patterns/hereditary] synonym: "THCYT" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] -synonym: "thrombocythemia" RELATED [OMIMPS:187950] +synonym: "thrombocythemia" RELATED [] xref: GARD:16688 {source="MONDO:GARD"} xref: icd11.foundation:1695088249 {source="Orphanet:71493", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} xref: MEDGEN:929430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -432106,7 +432193,7 @@ subset: orphanet_rare {source="Orphanet:71505"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CAR syndrome" EXACT [Orphanet:71505] -synonym: "paraneoplastic retinopathy" EXACT [Orphanet:71505] +synonym: "paraneoplastic retinopathy" EXACT [icd11.foundation:1216073790, Orphanet:71505] xref: GARD:18912 {source="MONDO:GARD"} xref: icd11.foundation:1216073790 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:71505"} xref: ICD9:362.10 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -432168,7 +432255,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:71529"} subset: ordo_subtype_of_a_disorder {source="Orphanet:71529"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4R deficiency" EXACT [Orphanet:71529] +synonym: "MC4R deficiency" EXACT [NCIT:C120394, Orphanet:71529] xref: GARD:16690 {source="MONDO:GARD"} xref: ICD10CM:E66.8 {source="Orphanet:71529/attributed", source="Orphanet:71529/ntbt", source="Orphanet:71529"} xref: MEDGEN:903905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -432198,7 +432285,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:71859"} synonym: "genetic nervous system disorder" EXACT [MONDO:patterns/genetic] synonym: "genetic neurological disorder" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "rare genetic neurological disorder" EXACT [Orphanet:71859] +synonym: "rare genetic neurological disorder" EXACT [] xref: Orphanet:71859 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -432219,9 +432306,9 @@ synonym: "familial retinal dystrophy" EXACT [] synonym: "fundus dystrophy" BROAD [MONDO:0004590] synonym: "genetic retinal dystrophy" EXACT [] synonym: "hereditary retinal degeneration" EXACT [MONDO:patterns/hereditary] -synonym: "hereditary retinal dystrophy" EXACT [MONDO:0004589] +synonym: "hereditary retinal dystrophy" EXACT [DOID:8500, ICD10CM:H35.5, MONDO:0004589, NCIT:C35194] synonym: "inherited retinal dystrophy" EXACT CLINGEN_LABEL [] -synonym: "retinal dystrophy" EXACT [DOID:8501, NCIT:C35625] +synonym: "retinal dystrophy" EXACT [DOID:8501, NCIT:C35625, Orphanet:71862] xref: DOID:8500 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:8501 {source="MONDO:equivalentTo"} xref: GARD:18916 {source="MONDO:GARD"} @@ -432301,11 +432388,11 @@ subset: rare synonym: "PCP" EXACT ABBREVIATION [NCIT:C3334] synonym: "PJP" EXACT ABBREVIATION [NCIT:C3334] synonym: "Pneumocystis" EXACT [NCIT:C3334] -synonym: "Pneumocystis carinii pneumonia" EXACT [DOID:11339] -synonym: "Pneumocystis jirovecii pneumonia" EXACT [DOID:11339] -synonym: "Pneumocystis Pneumonia" EXACT [NORD:1923] -synonym: "Pneumocystis pneumonia" EXACT [DOID:11339] -synonym: "pneumocystosis" EXACT [DOID:11339, ICD9CM:136.3] +synonym: "Pneumocystis carinii pneumonia" EXACT [DOID:11339, NCIT:C3334] +synonym: "Pneumocystis jirovecii pneumonia" EXACT [DOID:11339, NCIT:C3334] +synonym: "Pneumocystis Pneumonia" EXACT [DOID:11339, NCIT:C3334, NORD:1923] +synonym: "Pneumocystis pneumonia" EXACT [DOID:11339, NCIT:C3334] +synonym: "pneumocystosis" EXACT [DOID:11339, ICD10CM:B59, icd11.foundation:404370038, ICD9CM:136.3, Orphanet:723] synonym: "pneumocystosis pneumonia" EXACT [DOID:11339] synonym: "pulmonary pneumocystosis" EXACT [DOID:11339] xref: DOID:11339 {source="EFO:0007448", source="MONDO:equivalentTo"} @@ -432343,10 +432430,10 @@ subset: orphanet_rare {source="Orphanet:724"} subset: rare synonym: "Acute Eosinophilic Pneumonia" EXACT [NORD:728] synonym: "IAEP" EXACT ABBREVIATION [Orphanet:724] -synonym: "Loeffler syndrome" EXACT [GARD:0000107, MONDO:0004807, Orphanet:724] +synonym: "Loeffler syndrome" EXACT [DOID:9503, GARD:0000107, MONDO:0004807] synonym: "Loeffler's pneumonia" EXACT [DOID:9503] -synonym: "Loffler syndrome" EXACT [Orphanet:724] -synonym: "Loffler's syndrome" EXACT [DOID:9503] +synonym: "Loffler syndrome" EXACT [NCIT:C35301] +synonym: "Loffler's syndrome" EXACT [DOID:9503, NCIT:C35301] synonym: "Löffler syndrome" EXACT [NCIT:C35301] synonym: "pulmonary infiltrates with eosinophilia" RELATED [GARD:0000107] xref: DOID:9503 {source="MONDO:equivalentTo"} @@ -432418,8 +432505,8 @@ subset: orphanet_rare {source="Orphanet:727"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Micropolyangiitis" EXACT [Orphanet:727] -synonym: "microscopic polyarteritis" EXACT [Orphanet:727] -synonym: "MPA" EXACT ABBREVIATION [Orphanet:727] +synonym: "microscopic polyarteritis" EXACT [ICD10CM:M31.7, icd11.foundation:999231798, NCIT:C70549, Orphanet:727] +synonym: "MPA" EXACT ABBREVIATION [icd11.foundation:999231798, NCIT:C70549, Orphanet:727] xref: EFO:1000784 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:3652 {source="MONDO:GARD"} xref: ICD10CM:M31.7 {source="EFO:1000784", source="MONDO:equivalentTo", source="Orphanet:727", source="Orphanet:727/e"} @@ -432482,7 +432569,7 @@ name: obsolete intractable diarrhea of infancy def: "OBSOLETE. Intractable diarrhea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterized by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhea histologically characterized by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium." [Orphanet:73014] subset: ordo_group_of_disorders {source="Orphanet:73014"} subset: otar {source="MONDO:OTAR"} -synonym: "IDI" EXACT ABBREVIATION [Orphanet:73014] +synonym: "IDI" EXACT ABBREVIATION [] xref: Orphanet:73014 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -432499,8 +432586,8 @@ subset: ordo_disorder {source="Orphanet:732"} subset: orphanet_rare {source="Orphanet:732"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PM" EXACT ABBREVIATION [Orphanet:732] -synonym: "polymyositis" EXACT [MONDO:0005234] +synonym: "PM" EXACT ABBREVIATION [] +synonym: "polymyositis" EXACT [DOID:0080745, ICD10CM:M33.2, icd11.foundation:1157134196, MONDO:0005234, NCIT:C26925, Orphanet:732] xref: DOID:0080745 {source="MONDO:equivalentTo"} xref: EFO:0003063 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7425 {source="MONDO:GARD"} @@ -432528,10 +432615,10 @@ subset: gard_rare {source="GARD:7100", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:73217"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aplasia of the Mullerian ducts" EXACT [Orphanet:73217] +synonym: "aplasia of the Mullerian ducts" EXACT [] synonym: "aplasia of the Müllerian ducts" EXACT [Orphanet:73217] -synonym: "Mullerian duct failure" EXACT [Orphanet:73217] -synonym: "Müllerian aplasia" RELATED [Orphanet:73217] +synonym: "Mullerian duct failure" EXACT [] +synonym: "Müllerian aplasia" RELATED [] synonym: "Müllerian duct failure" EXACT [Orphanet:73217] xref: GARD:7100 {source="MONDO:GARD"} xref: MEDGEN:98466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -432686,8 +432773,8 @@ subset: ordo_disorder {source="Orphanet:73263"} subset: orphanet_rare {source="Orphanet:73263"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Mucormycosis" EXACT [NORD:1946] -synonym: "mucormycosis" EXACT [Orphanet:73263] +synonym: "Mucormycosis" EXACT [DOID:8485, icd11.foundation:1676389165, NCIT:C77212, NORD:1946, Orphanet:73263] +synonym: "mucormycosis" EXACT [DOID:8485, icd11.foundation:1676389165, NCIT:C77212, Orphanet:73263] synonym: "Zygomycota infectious disease" EXACT [] xref: DOID:8485 {source="EFO:0007380", source="MONDO:equivalentTo", source="MONDO:obsolete"} xref: EFO:0007380 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -432731,7 +432818,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1511"} subset: ordo_disorder {source="Orphanet:73267"} subset: orphanet_rare {source="Orphanet:73267"} subset: rare -synonym: "circadian rhythm sleep disorder, free running type" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24] +synonym: "circadian rhythm sleep disorder, free running type" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24, ICD10CM:G47.24] synonym: "circadian rhythm sleep disorder, free-running type" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24] synonym: "hypernychthemeral syndrome" EXACT [https://www.circadiansleepdisorders.org/defs.php#defN24, Orphanet:73267] synonym: "non 24 hour sleep wake disorder" RELATED [GARD:0010949] @@ -432768,7 +432855,7 @@ def: "Acquired hemophilia is a bleeding disorder that interferes with the body's subset: gard_rare {source="GARD:10350", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired hemophilia" EXACT [GARD:0010350, MONDO:patterns/acquired] +synonym: "acquired hemophilia" EXACT [GARD:0010350, ICD10CM:D68.311, MONDO:patterns/acquired] synonym: "hemophilia, acquired" EXACT [GARD:0010350] xref: GARD:10350 {source="MONDO:GARD"} xref: ICD10CM:D68.311 {source="MONDO:equivalentTo"} @@ -432836,12 +432923,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:738"} subset: rare synonym: "disorder of porphyrin and hem metabolism" EXACT [DOID:13268] -synonym: "disorder of porphyrin and heme metabolism" BROAD [DOID:13268] -synonym: "disorder of porphyrin metabolism" BROAD [DOID:13268, ICD9CM:277.1] -synonym: "Hematoporphyria" RELATED [DOID:13268] +synonym: "disorder of porphyrin and heme metabolism" BROAD [] +synonym: "disorder of porphyrin metabolism" BROAD [ICD9CM:277.1] +synonym: "Hematoporphyria" RELATED [] synonym: "hereditary porphyria" EXACT [MONDO:patterns/hereditary] -synonym: "porphyria" BROAD [DOID:13268] -synonym: "Porphyrinopathy" RELATED [DOID:13268] +synonym: "porphyria" BROAD [] +synonym: "Porphyrinopathy" RELATED [] xref: DOID:13268 {source="MONDO:equivalentTo"} xref: GARD:10353 {source="MONDO:GARD"} xref: ICD10CM:E80.0 {source="Orphanet:738/specific", source="Orphanet:738", source="Orphanet:738/btnt"} @@ -432911,9 +432998,9 @@ subset: ordo_disorder {source="Orphanet:743"} subset: orphanet_rare {source="Orphanet:743"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive thrombophilia due to congenital protein S deficiency" EXACT [Orphanet:743] -synonym: "hereditary thrombophilia due to congenital protein S deficiency" EXACT CLINGEN_LABEL [] -synonym: "severe hereditary thrombophilia due to congenital protein S deficiency" RELATED [Orphanet:743] +synonym: "autosomal recessive thrombophilia due to congenital protein S deficiency" EXACT [DOID:0111905, Orphanet:743] +synonym: "hereditary thrombophilia due to congenital protein S deficiency" EXACT CLINGEN_LABEL [icd11.foundation:1305244529] +synonym: "severe hereditary thrombophilia due to congenital protein S deficiency" RELATED [] xref: DOID:0111905 {source="MONDO:equivalentTo"} xref: GARD:16543 {source="MONDO:GARD"} xref: ICD10CM:D68.5 {source="Orphanet:743/attributed", source="Orphanet:743/ntbt", source="Orphanet:743"} @@ -432938,13 +433025,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive thrombophilia due to congenital protein C deficiency" EXACT [Orphanet:745] synonym: "autosomal recessive thrombophilia due to PC deficiency" EXACT [Orphanet:745] -synonym: "hereditary thrombophilia due to congenital protein C deficiency" EXACT CLINGEN_LABEL [] -synonym: "hereditary thrombophilia due to PC deficiency" EXACT [Orphanet:745] -synonym: "Protein C Deficiency" EXACT [NORD:1899] -synonym: "Protein C deficiency" EXACT [NCIT:C99025] -synonym: "protein C deficiency" EXACT [MONDO:0002767] +synonym: "hereditary thrombophilia due to congenital protein C deficiency" EXACT CLINGEN_LABEL [icd11.foundation:2021932081] +synonym: "hereditary thrombophilia due to PC deficiency" EXACT [] +synonym: "Protein C Deficiency" EXACT [DOID:3756, NCIT:C99025, NORD:1899] +synonym: "Protein C deficiency" EXACT [DOID:3756, NCIT:C99025] +synonym: "protein C deficiency" EXACT [DOID:3756, MONDO:0002767, NCIT:C99025] synonym: "Protein C deficiency disease" EXACT [NCIT:C99025] -synonym: "severe hereditary thrombophilia due to congenital protein C deficiency" RELATED [Orphanet:745] +synonym: "severe hereditary thrombophilia due to congenital protein C deficiency" RELATED [] xref: DOID:3756 {source="MONDO:equivalentTo"} xref: GARD:16544 {source="MONDO:GARD"} xref: ICD10CM:D68.2 {source="Orphanet:745/attributed", source="Orphanet:745/ntbt", source="Orphanet:745"} @@ -432997,10 +433084,10 @@ subset: gard_rare {source="GARD:18924", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:75110"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "infestation by fly larvae" EXACT [DOID:11080] -synonym: "infestation by maggots" EXACT [DOID:11080] -synonym: "maggot infestation" EXACT [DOID:11080] -synonym: "myiasis, unspecified" EXACT [DOID:11080] +synonym: "infestation by fly larvae" EXACT [DOID:11080, icd11.foundation:1367149207] +synonym: "infestation by maggots" EXACT [DOID:11080, icd11.foundation:1367149207] +synonym: "maggot infestation" EXACT [DOID:11080, icd11.foundation:1367149207] +synonym: "myiasis, unspecified" EXACT [] xref: DOID:11080 {source="EFO:0007389", source="MONDO:equivalentTo"} xref: EFO:0007389 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:18924 {source="MONDO:GARD"} @@ -433044,12 +433131,12 @@ synonym: "deficiency of cholesterol esterase and triacylglycerol lipase" RELATED synonym: "familial visceral xanthomatosis" RELATED [] synonym: "familial xanthomatosis" RELATED [GARD:0007899] synonym: "liposomal acid lipase deficiency, Wolman type" RELATED [GARD:0007899] -synonym: "lysosomal acid lipase deficiency" BROAD [NCIT:C61271] +synonym: "lysosomal acid lipase deficiency" BROAD [] synonym: "primary familial xanthomatosis" RELATED [] synonym: "primary familial xanthomatosis with adrenal calcification" RELATED [] -synonym: "Wolman disease with hypolipoproteinemia and acanthocytosis" EXACT [OMIM:278100] +synonym: "Wolman disease with hypolipoproteinemia and acanthocytosis" EXACT [] synonym: "Wolman xanthomatosis" EXACT [DOID:14497] -synonym: "Wolman's disease" EXACT [DOID:14497] +synonym: "Wolman's disease" EXACT [DOID:14497, NCIT:C61271] synonym: "Wolman's or triglyceride storage type III disease" EXACT [DOID:14497] synonym: "xanthomatosis, familial" EXACT [DOID:14497] xref: DOID:14497 {source="MONDO:equivalentTo"} @@ -433094,11 +433181,11 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CESD" RELATED ABBREVIATION [GARD:0012099] synonym: "cholesterol ester hydrolase deficiency, partial" EXACT [OMIM:278000] -synonym: "cholesterol ester storage disease" EXACT [MONDO:0001981, OMIM:278000, Orphanet:75234] +synonym: "cholesterol ester storage disease" EXACT [DOID:14502, MONDO:0001981, Orphanet:75234] synonym: "LAL deficiency, partial" EXACT [OMIM:278000] synonym: "LIPA deficiency, partial" EXACT [OMIM:278000] synonym: "lysosomal acid lipase deficiency, partial" EXACT CLINGEN_LABEL [OMIM:278000] -synonym: "lysosomal and lipase deficiency" RELATED [DOID:0080217] +synonym: "lysosomal and lipase deficiency" RELATED [] xref: DOID:14502 {source="MONDO:equivalentTo"} xref: GARD:12099 {source="MONDO:GARD"} xref: ICD10CM:E75.5 {source="Orphanet:75234", source="Orphanet:75234/attributed", source="Orphanet:75234/ntbt"} @@ -433124,7 +433211,7 @@ name: obsolete familial isolated restrictive cardiomyopathy def: "OBSOLETE. Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles." [https://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy] subset: ordo_disorder {source="Orphanet:75249"} subset: otar {source="MONDO:OTAR"} -synonym: "familial or idiopathic restrictive cardiomyopathy" EXACT [Orphanet:75249] +synonym: "familial or idiopathic restrictive cardiomyopathy" EXACT [] xref: ICD10CM:I42.5 {source="Orphanet:75249", source="Orphanet:75249/e", source="Orphanet:75249/specific"} xref: Orphanet:75249 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -433166,7 +433253,7 @@ subset: orphanet_rare {source="Orphanet:75382"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital stationary night blindness, Oguchi type" EXACT [Orphanet:75382] -synonym: "Oguchi disease" EXACT CLINGEN_LABEL [] +synonym: "Oguchi disease" EXACT CLINGEN_LABEL [icd11.foundation:1759055065, Orphanet:75382] synonym: "Oguchi syndrome" EXACT [Orphanet:75382] synonym: "stationary night blindness, Oguchi type" RELATED [GARD:0010118] xref: GARD:10118 {source="MONDO:GARD"} @@ -433217,16 +433304,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:754"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AIS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:300068, Orphanet:754] -synonym: "androgen insensitivity syndrome" EXACT [MONDO:Lexical, OMIM:300068] -synonym: "androgen insensitivity, X-linked recessive" EXACT [OMIM:300068, OMIM:genemap2] -synonym: "androgen receptor deficiency" RELATED [OMIM:300068] -synonym: "androgen resistance syndrome" EXACT [Orphanet:754] +synonym: "AIS" BROAD ABBREVIATION [MONDO:Lexical] +synonym: "androgen insensitivity syndrome" EXACT [DOID:4674, MONDO:Lexical, NCIT:C27226, OMIM:300068, Orphanet:754] +synonym: "androgen insensitivity, X-linked recessive" EXACT [] +synonym: "androgen receptor deficiency" RELATED [] +synonym: "androgen resistance syndrome" EXACT [DOID:4674, NCIT:C27226, Orphanet:754] synonym: "androgen-insensitivity syndrome" EXACT [DOID:4674] -synonym: "AR deficiency" RELATED [OMIM:300068] -synonym: "DHTR deficiency" RELATED [OMIM:300068] -synonym: "dihydrotestosterone receptor deficiency" RELATED [OMIM:300068] -synonym: "Feminisation - testicular" RELATED [DOID:4674] +synonym: "AR deficiency" RELATED [] +synonym: "DHTR deficiency" RELATED [] +synonym: "dihydrotestosterone receptor deficiency" RELATED [] +synonym: "Feminisation - testicular" RELATED [] synonym: "Goldberg - Maxwell syndrome" EXACT [DOID:4674] synonym: "Goldberg-Maxwell syndrome" EXACT [DOID:4674, Orphanet:754] synonym: "Morris syndrome" EXACT [Orphanet:754] @@ -433277,15 +433364,15 @@ subset: orphanet_rare {source="Orphanet:755"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "46,XY disorder of sex development due to LH defects" RELATED [GARD:0003244] -synonym: "46,XY disorder of sex development due to LH resistance or LHB deficiency" EXACT [Orphanet:755] -synonym: "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [Orphanet:755] -synonym: "46,XY DSD due to LH resistance or LHB deficiency" EXACT [Orphanet:755] -synonym: "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [Orphanet:755] +synonym: "46,XY disorder of sex development due to LH resistance or LHB deficiency" EXACT [DOID:0112259, Orphanet:755] +synonym: "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [DOID:0112259, Orphanet:755] +synonym: "46,XY DSD due to LH resistance or LHB deficiency" EXACT [DOID:0112259, Orphanet:755] +synonym: "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [DOID:0112259, Orphanet:755] synonym: "Leydig cell agenesis" RELATED [GARD:0003244] synonym: "LH resistance due to LH receptor deactivation" RELATED [GARD:0003244] synonym: "Male hypergonadotropic hypogonadism due to LHCGR defect" RELATED [GARD:0003244] -synonym: "Male pseudohermaphroditism due to LH resistance or LHB deficiency" EXACT [Orphanet:755] -synonym: "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [GARD:0003244, Orphanet:755] +synonym: "Male pseudohermaphroditism due to LH resistance or LHB deficiency" EXACT [] +synonym: "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [GARD:0003244] xref: DOID:0112259 {source="MONDO:equivalentTo"} xref: GARD:3244 {source="MONDO:GARD"} xref: ICD10CM:Q56.1 {source="Orphanet:755", source="Orphanet:755/attributed", source="Orphanet:755/ntbt"} @@ -433330,23 +433417,23 @@ subset: ordo_disorder {source="Orphanet:75564"} subset: orphanet_rare {source="Orphanet:75564"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired idiopathic sideroblastic anaemia" EXACT OMO:0003005 [] +synonym: "acquired idiopathic sideroblastic anaemia" EXACT OMO:0003005 [icd11.foundation:1793160341] synonym: "acquired idiopathic sideroblastic anemia" EXACT [Orphanet:75564] synonym: "AISA" EXACT ABBREVIATION [Orphanet:75564] synonym: "MDS with ring sideroblasts" EXACT ABBREVIATION [doi:10.5772/intechopen.82532] synonym: "MDS-RS" EXACT ABBREVIATION [NCIT:C4036] synonym: "myelodysplastic syndrome with Ring sideroblasts" EXACT [NCIT:C4036] -synonym: "primary acquired sideroblastic anaemia" EXACT OMO:0003005 [] +synonym: "primary acquired sideroblastic anaemia" EXACT OMO:0003005 [icd11.foundation:1793160341] synonym: "primary acquired sideroblastic anemia" EXACT [Orphanet:75564] synonym: "Pure sideroblastic Anaemia" EXACT OMO:0003005 [] synonym: "Pure sideroblastic Anemia" EXACT [NCIT:C4036] synonym: "RARS" EXACT ABBREVIATION [NCIT:C4036, Orphanet:75564] -synonym: "refractory Anaemia with Ring sideroblasts" EXACT OMO:0003005 [] +synonym: "refractory Anaemia with Ring sideroblasts" EXACT OMO:0003005 [icd11.foundation:1793160341] synonym: "refractory Anaemia with ringed sideroblasts" EXACT OMO:0003005 [] synonym: "refractory anaemia with ringed sideroblasts" EXACT OMO:0003005 [] synonym: "refractory Anemia with Ring sideroblasts" EXACT [NCIT:C4036] -synonym: "refractory Anemia with ringed sideroblasts" EXACT [NCIT:C4036] -synonym: "refractory anemia with ringed sideroblasts" EXACT [Orphanet:75564] +synonym: "refractory Anemia with ringed sideroblasts" EXACT [NCIT:C4036, Orphanet:75564] +synonym: "refractory anemia with ringed sideroblasts" EXACT [NCIT:C4036, Orphanet:75564] xref: EFO:0003812 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:8249 {source="MONDO:GARD"} xref: ICD10CM:D64.3 {source="Orphanet:75564", source="Orphanet:75564/ntbt"} @@ -433437,9 +433524,9 @@ subset: orphanet_rare {source="Orphanet:756"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "PHA type 1" EXACT [Orphanet:756] -synonym: "PHA1B" NARROW ABBREVIATION [NCIT:C123251] -synonym: "pseudohypoaldosteronism type I autosomal recessive" NARROW [NCIT:C123251] -synonym: "pseudohypoaldosteronism, type I" EXACT [MONDO:0957319] +synonym: "PHA1B" NARROW ABBREVIATION [] +synonym: "pseudohypoaldosteronism type I autosomal recessive" NARROW [] +synonym: "pseudohypoaldosteronism, type I" EXACT [MONDO:0957319, OMIMPS:177735] xref: GARD:16545 {source="MONDO:GARD"} xref: ICD10CM:N25.8 {source="Orphanet:756/attributed", source="Orphanet:756/ntbt", source="Orphanet:756"} xref: icd11.foundation:1576878036 {source="Orphanet:756", source="MONDO:equivalentTo"} @@ -433473,7 +433560,7 @@ subset: rare synonym: "chloride shunt syndrome" EXACT [Orphanet:757] synonym: "familial hyperkalemic hypertension" EXACT [Orphanet:757] synonym: "Gordon hyperkalemia-hypertension syndrome" EXACT [Orphanet:757] -synonym: "Gordon syndrome" RELATED [NCIT:C123252] +synonym: "Gordon syndrome" RELATED [] synonym: "hyperkalemia-hypertension syndrome, Gordon type" EXACT [Orphanet:757] synonym: "hyperpotassemia and hypertension familial" RELATED [GARD:0004553] synonym: "hypertensive hyperkalemia" EXACT [Orphanet:757] @@ -433534,8 +433621,8 @@ subset: gard_rare {source="GARD:16546", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:650063"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CPP" EXACT ABBREVIATION [Orphanet:759] -synonym: "gonadotropin-dependant precocious puberty" EXACT [Orphanet:759] +synonym: "CPP" EXACT ABBREVIATION [DOID:0112308] +synonym: "gonadotropin-dependant precocious puberty" EXACT [DOID:0112308, icd11.foundation:1749914533, Orphanet:650063] synonym: "gonadotropin-dependent precocious puberty" EXACT [] synonym: "precocious puberty, central" EXACT [OMIMPS:176400] xref: DOID:0112308 {source="MONDO:equivalentTo"} @@ -433574,15 +433661,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:761"} subset: orphanet_rare {source="Orphanet:761"} subset: rare -synonym: "allergic purpura" EXACT [DOID:11123, ICD9CM:287.0] -synonym: "anaphylactoid purpura" EXACT [Orphanet:761] +synonym: "allergic purpura" EXACT [DOID:11123, icd11.foundation:1629105375, ICD9CM:287.0] +synonym: "anaphylactoid purpura" EXACT [icd11.foundation:1629105375, Orphanet:761] synonym: "autoimmune purpura" EXACT [DOID:11123] synonym: "Henoch Schonlein purpura" RELATED [GARD:0008204] -synonym: "Henoch-Schoenlein purpura" EXACT [DOID:11123, Orphanet:761] +synonym: "Henoch-Schoenlein purpura" EXACT [DOID:11123] synonym: "Henoch-Scholein purpura" EXACT [DOID:11123] -synonym: "Henoch-Schonlein purpura" EXACT [DOID:11123, NCIT:C34963] +synonym: "Henoch-Schonlein purpura" EXACT [DOID:11123] synonym: "HSP" EXACT ABBREVIATION [NCIT:C34963] -synonym: "IgA vasculitis" EXACT [Orphanet:761] +synonym: "IgA vasculitis" EXACT [icd11.foundation:1629105375, Orphanet:761] synonym: "purpura rheumatica" EXACT [Orphanet:761] synonym: "purpura, autoimmune" EXACT [DOID:11123] synonym: "purpura, Schonlein-Henoch" RELATED [GARD:0008204] @@ -433631,7 +433718,7 @@ synonym: "myositis purulenta tropica" EXACT [Orphanet:764] synonym: "myositis tropicans" EXACT [Orphanet:764] synonym: "PM" EXACT ABBREVIATION [Orphanet:764] synonym: "suppurative myositis" EXACT [Orphanet:764] -synonym: "tropical pyomyositis" EXACT [DOID:876, ICD9CM:040.81, Orphanet:764] +synonym: "tropical pyomyositis" EXACT [DOID:876, ICD9CM:040.81, NCIT:C128382, Orphanet:764] xref: DOID:876 {source="MONDO:equivalentTo"} xref: EFO:1001409 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:4614 {source="MONDO:GARD"} @@ -433661,13 +433748,13 @@ subset: orphanet_rare {source="Orphanet:765"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "deficiency of pyruvic dehydrogenase" EXACT [DOID:3649] -synonym: "PDH" EXACT ABBREVIATION [Orphanet:765] +synonym: "PDH" EXACT ABBREVIATION [NCIT:C103968, Orphanet:765] synonym: "PDHC" EXACT ABBREVIATION [Orphanet:765] -synonym: "pyruvate decarboxylase deficiency" EXACT [MONDO:0005934] -synonym: "Pyruvate Dehydrogenase Complex Deficiency" EXACT [NORD:1641] -synonym: "pyruvate dehydrogenase complex deficiency" EXACT [Orphanet:765] +synonym: "pyruvate decarboxylase deficiency" EXACT [DOID:3649, MONDO:0005934] +synonym: "Pyruvate Dehydrogenase Complex Deficiency" EXACT [icd11.foundation:1124597954, NORD:1641, OMIMPS:312170, Orphanet:765] +synonym: "pyruvate dehydrogenase complex deficiency" EXACT [icd11.foundation:1124597954, OMIMPS:312170, Orphanet:765] synonym: "pyruvate dehydrogenase complex deficiency disease" EXACT [DOID:3649] -synonym: "pyruvate dehydrogenase deficiency" EXACT [DOID:3649] +synonym: "pyruvate dehydrogenase deficiency" EXACT [DOID:3649, icd11.foundation:1124597954, NCIT:C103968, Orphanet:765] xref: DOID:3649 {source="EFO:0007459", source="MONDO:equivalentTo"} xref: GARD:7513 {source="MONDO:GARD"} xref: ICD10CM:E74.4 {source="Orphanet:765/ntbt", source="Orphanet:765", source="DOID:3649", source="Orphanet:765/inclusion"} @@ -433709,11 +433796,11 @@ synonym: "classic polyarteritis nodosa" EXACT [NCIT:C26847] synonym: "classical polyarteritis nodosa" EXACT [NCIT:C26847] synonym: "Küssmaul-Maier disease" EXACT [Orphanet:767] synonym: "PAN" EXACT ABBREVIATION [NCIT:C26847, Orphanet:767] -synonym: "panarteritis nodosa" EXACT [NCIT:C26847] +synonym: "panarteritis nodosa" EXACT [icd11.foundation:1419332129, NCIT:C26847] synonym: "periarteritis" RELATED [GARD:0007360] -synonym: "periarteritis nodosa" EXACT [NCIT:C26847, Orphanet:767] +synonym: "periarteritis nodosa" EXACT [icd11.foundation:1419332129, NCIT:C26847, Orphanet:767] synonym: "polyarteritis" RELATED [GARD:0007360] -synonym: "polyarteritis nodosa" EXACT [NCIT:C26847] +synonym: "polyarteritis nodosa" EXACT [DOID:9810, ICD10CM:M30.0, icd11.foundation:1419332129, NCIT:C26847, Orphanet:767] xref: DOID:9810 {source="MONDO:equivalentTo"} xref: GARD:7360 {source="MONDO:GARD"} xref: ICD10CM:M30.0 {source="DOID:9810", source="Orphanet:767", source="MONDO:equivalentTo", source="Orphanet:767/e"} @@ -433750,14 +433837,14 @@ subset: ordo_group_of_disorders {source="Orphanet:768"} subset: orphanet_rare {source="Orphanet:101016"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital long QT syndrome" EXACT [Orphanet:768] -synonym: "familial long QT syndrome" EXACT CLINGEN_LABEL [] +synonym: "congenital long QT syndrome" EXACT [icd11.foundation:1208831985, Orphanet:768] +synonym: "familial long QT syndrome" EXACT CLINGEN_LABEL [icd11.foundation:1208831985, Orphanet:768] synonym: "hereditary long QT syndrome" EXACT [MONDO:patterns/hereditary] -synonym: "Long QT Syndrome" EXACT [NORD:1675] +synonym: "Long QT Syndrome" EXACT [icd11.foundation:1208831985, NORD:1675, OMIMPS:192500] synonym: "LQTS" EXACT ABBREVIATION [Orphanet:768] synonym: "Romano-Ward long QT syndrome" EXACT [Orphanet:101016] -synonym: "Romano-Ward syndrome" EXACT [OMIM:192500] -synonym: "Ward-Romano syndrome" EXACT [OMIM:192500] +synonym: "Romano-Ward syndrome" EXACT [Orphanet:101016] +synonym: "Ward-Romano syndrome" EXACT [] xref: GARD:16547 {source="MONDO:GARD"} xref: ICD10CM:I45.8 {source="Orphanet:768/attributed", source="Orphanet:768/ntbt", source="Orphanet:768"} xref: icd11.foundation:1208831985 {source="Orphanet:101016", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839"} @@ -433783,7 +433870,7 @@ def: "Aniridia is a congenital ocular malformation characterized by the complete subset: clingen {source="MONDO:CLINGEN"} subset: disease_grouping subset: otar {source="MONDO:OTAR"} -synonym: "aplasia of iris" EXACT [DOID:12271] +synonym: "aplasia of iris" EXACT [DOID:12271, icd11.foundation:970699895] xref: DOID:12271 {source="MONDO:equivalentTo"} xref: ICD10CM:Q13.1 {source="Orphanet:77/attributed", source="Orphanet:77/ntbt", source="Orphanet:77", source="DOID:12271"} xref: icd11.foundation:970699895 {source="MONDO:equivalentTo"} @@ -433813,7 +433900,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1644"} subset: ordo_disorder {source="Orphanet:770"} subset: orphanet_rare {source="Orphanet:770"} subset: rare -synonym: "lyssa" EXACT [DOID:11260] +synonym: "lyssa" EXACT [DOID:11260, icd11.foundation:854762584] xref: DOID:11260 {source="MONDO:equivalentTo"} xref: GARD:7516 {source="MONDO:GARD"} xref: ICD10CM:A82 {source="DOID:11260", source="MONDO:equivalentTo"} @@ -433868,8 +433955,8 @@ subset: gard_rare {source="GARD:18932", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:77240"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "primary lymphedema" EXACT [NCIT:C48829] -synonym: "Troncular lymphatic malformation" EXACT [Orphanet:77240] +synonym: "primary lymphedema" EXACT [NCIT:C48829, Orphanet:77240] +synonym: "Troncular lymphatic malformation" EXACT [] xref: GARD:18932 {source="MONDO:GARD"} xref: ICD10CM:I89.0 {source="Orphanet:77240/attributed", source="Orphanet:77240/ntbt", source="Orphanet:77240"} xref: icd11.foundation:794588197 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:77240"} @@ -433886,7 +433973,7 @@ name: obsolete trichorhinophalangeal syndrome type I or III def: "OBSOLETE. Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones." [Orphanet:77258] subset: ordo_disorder {source="Orphanet:77258"} subset: otar {source="MONDO:OTAR"} -synonym: "trichorhinophalangeal syndrome type 1 and 3" EXACT [Orphanet:77258] +synonym: "trichorhinophalangeal syndrome type 1 and 3" EXACT [] xref: ICD10CM:Q87.1 {source="Orphanet:77258", source="Orphanet:77258/attributed", source="Orphanet:77258/ntbt"} xref: Orphanet:77258 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -433968,12 +434055,12 @@ subset: ordo_disorder {source="Orphanet:774"} subset: orphanet_rare {source="Orphanet:774"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary hemorrhagic telangiectasia" EXACT CLINGEN_LABEL [] +synonym: "hereditary hemorrhagic telangiectasia" EXACT CLINGEN_LABEL [DOID:1270, ICD10CM:I78.0, NCIT:C35064, Orphanet:774] synonym: "HHT" EXACT ABBREVIATION [Orphanet:774] synonym: "Osler hemorrhagic telangiectasia syndrome" EXACT [DOID:1270] -synonym: "Osler-Weber-Rendu disease" EXACT [DOID:1270, NCIT:C35064] +synonym: "Osler-Weber-Rendu disease" EXACT [DOID:1270, icd11.foundation:714406192, NCIT:C35064] synonym: "Rendu-Osler disease" EXACT [Orphanet:774] -synonym: "Rendu-Osler-Weber disease" EXACT [DOID:1270, Orphanet:774] +synonym: "Rendu-Osler-Weber disease" EXACT [DOID:1270, ICD10CM:I78.0, icd11.foundation:714406192, Orphanet:774] synonym: "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler" EXACT [NCIT:C35064] synonym: "telangiectasia, hereditary hemorrhagic" EXACT [OMIMPS:187300] xref: DOID:1270 {source="MONDO:equivalentTo"} @@ -434018,17 +434105,17 @@ subset: ordo_etiological_subtype {source="Orphanet:777"} subset: ordo_subtype_of_a_disorder {source="Orphanet:777"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, nonsyndromic, X-linked" EXACT [OMIMPS:309530] +synonym: "intellectual disability, nonsyndromic, X-linked" EXACT [] synonym: "intellectual disability, X-linked, nonsyndromic" EXACT [MONDO:0000168] synonym: "isolated X-linked intellectual disability" RELATED [https://orcid.org/0000-0002-6601-2165] -synonym: "mental retardation, nonsyndromic, X-linked" EXACT DEPRECATED [OMIMPS:309530] +synonym: "mental retardation, nonsyndromic, X-linked" EXACT DEPRECATED [] synonym: "mental retardation, X-linked, nonsyndromic" EXACT DEPRECATED [MONDO:0000168] -synonym: "non-specific X-linked intellectual disability" EXACT [DOID:0050776] +synonym: "non-specific X-linked intellectual disability" EXACT [] synonym: "non-specific X-linked mental retardation" EXACT DEPRECATED [DOID:0050776] synonym: "non-syndromic intellectual disability, X-linked" EXACT [MONDO:design_pattern, MONDO:patterns/x_linked] -synonym: "non-syndromic X-linked intellectual disability" EXACT CLINGEN_LABEL [] +synonym: "non-syndromic X-linked intellectual disability" EXACT CLINGEN_LABEL [DOID:0050776] synonym: "nonsyndromic X-linked intellectual disability" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "X-linked non-specific intellectual disability" EXACT [Orphanet:777] +synonym: "X-linked non-specific intellectual disability" EXACT [] synonym: "X-linked non-syndromic intellectual disability" EXACT [Orphanet:777] xref: DOID:0050776 {source="MONDO:equivalentTo"} xref: GARD:18640 {source="MONDO:GARD"} @@ -434052,17 +434139,17 @@ subset: gard_rare {source="GARD:18935", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:77828"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "genetic obesity" EXACT [] -synonym: "genetic obesity (disease)" EXACT [MONDO:patterns/genetic, Orphanet:77828] -synonym: "leanness, inherited, autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] +synonym: "genetic obesity" EXACT [Orphanet:77828] +synonym: "genetic obesity (disease)" EXACT [MONDO:patterns/genetic] +synonym: "leanness, inherited, autosomal recessive" EXACT [] synonym: "monogenic obesity" EXACT CLINGEN_LABEL [] -synonym: "obesity, association with, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] -synonym: "obesity, early-onset, susceptibility to, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] -synonym: "obesity, late-onset, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] -synonym: "obesity, mild, early-onset, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] -synonym: "obesity, severe, and type II diabetes, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] -synonym: "obesity, severe, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] -synonym: "obesity, susceptibility to, Autosomal recessive" EXACT [OMIM:601665, OMIM:genemap2] +synonym: "obesity, association with, Autosomal recessive" EXACT [] +synonym: "obesity, early-onset, susceptibility to, Autosomal recessive" EXACT [] +synonym: "obesity, late-onset, Autosomal recessive" EXACT [] +synonym: "obesity, mild, early-onset, Autosomal recessive" EXACT [] +synonym: "obesity, severe, and type II diabetes, Autosomal recessive" EXACT [] +synonym: "obesity, severe, Autosomal recessive" EXACT [] +synonym: "obesity, susceptibility to, Autosomal recessive" EXACT [] xref: GARD:18935 {source="MONDO:GARD"} xref: ICD10CM:E66.8 {source="Orphanet:77828/attributed", source="Orphanet:77828/ntbt", source="Orphanet:77828"} xref: MEDGEN:885912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -434117,10 +434204,10 @@ synonym: "Coxiella burnetii disease or disorder" EXACT [] synonym: "Coxiella burnetii fever" RELATED [GARD:0007515] synonym: "Coxiella burnetii infectious disease" EXACT [] synonym: "Coxiellosis" EXACT [Orphanet:781] -synonym: "infection due to Coxiella burnetii" EXACT [Orphanet:781] -synonym: "nine Mile fever" EXACT [Orphanet:781] +synonym: "infection due to Coxiella burnetii" EXACT [DOID:11100, ICD10CM:A78, icd11.foundation:2113860626, Orphanet:781] +synonym: "nine Mile fever" EXACT [ICD10CM:A78, icd11.foundation:2113860626, Orphanet:781] synonym: "Q fever pneumonia" RELATED [GARD:0007515] -synonym: "quadrilateral fever" EXACT [Orphanet:781] +synonym: "quadrilateral fever" EXACT [ICD10CM:A78, icd11.foundation:2113860626, Orphanet:781] synonym: "query fever" EXACT [Orphanet:781] xref: DOID:11100 {source="EFO:0005224", source="MONDO:equivalentTo"} xref: EFO:0005224 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -434171,7 +434258,7 @@ synonym: "goniodysgenesis hypodontia" RELATED [GARD:0005701] synonym: "Hagedoom syndrome" RELATED [DOID:14686] synonym: "iridogoniodysgenesis with somatic anomalies" RELATED [GARD:0005701] synonym: "RGS - Rieger syndrome" EXACT [DOID:14686] -synonym: "Rieger syndrome" EXACT [Orphanet:782] +synonym: "Rieger syndrome" EXACT [NCIT:C131001, Orphanet:782] synonym: "Rieger's anomaly" EXACT [DOID:14686] xref: DOID:14686 {source="MONDO:equivalentTo"} xref: GARD:5701 {source="MONDO:GARD"} @@ -434210,12 +434297,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:783"} subset: orphanet_rare {source="Orphanet:783"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Broad thumb-hallux syndrome" EXACT [DOID:1933, Orphanet:783] +synonym: "Broad thumb-hallux syndrome" EXACT [DOID:1933, icd11.foundation:692585833, Orphanet:783] synonym: "Broad thumbs-halluces syndrome" EXACT [Orphanet:783] synonym: "proximal chromosome 16p13.3 deletion syndrome" EXACT [DOID:1933] synonym: "RSTS" RELATED ABBREVIATION [GARD:0007593] synonym: "Rubinstein syndrome" EXACT [DOID:1933] -synonym: "Rubinstein-Taybi Syndrome" EXACT [DECIPHER:7] +synonym: "Rubinstein-Taybi Syndrome" EXACT [DECIPHER:7, DOID:1933, icd11.foundation:692585833, NCIT:C75466, OMIMPS:180849, Orphanet:783] xref: DECIPHER:7 {source="MONDO:equivalentTo"} xref: DOID:1933 {source="MONDO:equivalentTo"} xref: GARD:7593 {source="MONDO:GARD"} @@ -434258,7 +434345,7 @@ subset: gard_rare {source="GARD:18937", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79062"} subset: rare synonym: "disorder of amino acid and organic acid metabolism" EXACT [] -synonym: "disorder of amino acid and other organic acid metabolism" RELATED [Orphanet:79062] +synonym: "disorder of amino acid and other organic acid metabolism" RELATED [] xref: GARD:18937 {source="MONDO:GARD"} xref: ICD9:270.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:575169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -434301,7 +434388,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:79078"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chronic dacryoadenitis and sialadenitis" EXACT [Orphanet:79078] -synonym: "Mikulicz disease" EXACT [MONDO:0001599, NCIT:C34819, Orphanet:79078] +synonym: "Mikulicz disease" EXACT [DOID:12900, MONDO:0001599, NCIT:C34819, Orphanet:79078] synonym: "Mikulicz disease (former)" RELATED [GARD:0007043] synonym: "Mikulicz syndrome (former)" RELATED [GARD:0007043] synonym: "Mikulicz's disease" EXACT [DOID:12900] @@ -434354,7 +434441,7 @@ subset: ordo_disorder {source="Orphanet:79086"} subset: orphanet_rare {source="Orphanet:79086"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired generalized lipodystrophy" EXACT [MONDO:patterns/acquired] +synonym: "acquired generalized lipodystrophy" EXACT [DOID:0080300, MONDO:patterns/acquired, NCIT:C131089, Orphanet:79086] synonym: "acquired lipoatrophic diabetes" EXACT [Orphanet:79086] synonym: "Lawrence syndrome" EXACT [DOID:0080300, Orphanet:79086] synonym: "Lawrence-Seip syndrome" EXACT [Orphanet:79086] @@ -434489,7 +434576,7 @@ subset: ordo_disorder {source="Orphanet:79098"} subset: orphanet_rare {source="Orphanet:79098"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "sympathetic ophthalmia" EXACT [MONDO:0006991] +synonym: "sympathetic ophthalmia" EXACT [DOID:12029, icd11.foundation:1639718137, MONDO:0006991, Orphanet:79098] synonym: "sympathetic uveitis" EXACT [DOID:12029, ICD9CM:360.11, Orphanet:79098] xref: DOID:12029 {source="MONDO:equivalentTo", source="EFO:1001205"} xref: EFO:1001205 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -434536,8 +434623,8 @@ subset: orphanet_rare {source="Orphanet:791"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "pericentral pigmentary retinopathy" NARROW [DOID:10584] -synonym: "retinitis pigmentosa" EXACT CLINGEN_LABEL [] +synonym: "pericentral pigmentary retinopathy" NARROW [] +synonym: "retinitis pigmentosa" EXACT CLINGEN_LABEL [DOID:10584, NCIT:C85045, OMIM:268000, OMIMPS:268000, Orphanet:791] synonym: "Rod-cone dystrophy" RELATED [GARD:0005694] xref: DOID:10584 {source="MONDO:equivalentTo"} xref: GARD:5694 {source="MONDO:GARD"} @@ -434600,10 +434687,10 @@ subset: ordo_disorder {source="Orphanet:79105"} subset: orphanet_rare {source="Orphanet:79105"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fibromyxosarcoma" EXACT [Orphanet:79105] +synonym: "fibromyxosarcoma" EXACT [NCIT:C6496, Orphanet:79105] synonym: "MFS" RELATED ABBREVIATION [ONCOTREE:MFS] -synonym: "myxofibrosarcoma" EXACT [NCIT:C6496] -synonym: "myxoid fibrous histiocytoma" EXACT [NCIT:C6496] +synonym: "myxofibrosarcoma" EXACT [DOID:0080534, NCIT:C6496, Orphanet:79105] +synonym: "myxoid fibrous histiocytoma" EXACT [] synonym: "myxoid malignant fibrous histiocytoma" EXACT [NCIT:C6496, Orphanet:79105] synonym: "myxoid MFH" EXACT [NCIT:C6496] xref: DOID:0080534 {source="MONDO:equivalentTo"} @@ -434631,10 +434718,10 @@ subset: ordo_disorder {source="Orphanet:79126"} subset: orphanet_rare {source="Orphanet:79126"} subset: rare synonym: "accelerated interstitial pneumonia" EXACT [DOID:2800] -synonym: "acute interstitial pneumonitis" EXACT [DOID:2800, Orphanet:79126] +synonym: "acute interstitial pneumonitis" EXACT [DOID:2800, icd11.foundation:2116884221, NCIT:C35806, Orphanet:79126] synonym: "AIP" EXACT ABBREVIATION [DOID:2800, NCIT:C35806] synonym: "Hamman-rich disease" EXACT [DOID:2800] -synonym: "Hamman-rich syndrome" EXACT [DOID:2800, Orphanet:79126] +synonym: "Hamman-rich syndrome" EXACT [DOID:2800, icd11.foundation:2116884221, Orphanet:79126] synonym: "idiopathic pulmonary fibrosis, acute fatal form" EXACT [DOID:2800] xref: DOID:2800 {source="MONDO:equivalentTo"} xref: GARD:12835 {source="MONDO:GARD"} @@ -434665,7 +434752,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:79127"} subset: orphanet_rare {source="Orphanet:79127"} subset: rare -synonym: "RB-ILD" EXACT [Orphanet:79127] +synonym: "RB-ILD" EXACT ABBREVIATION [Orphanet:79127] xref: GARD:18942 {source="MONDO:GARD"} xref: ICD10CM:J68.4 {source="Orphanet:79127", source="Orphanet:79127/ntbt"} xref: icd11.foundation:822500243 {source="Orphanet:79127", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -434753,7 +434840,7 @@ subset: orphanet_rare {source="Orphanet:79139"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Encephalitis, Japanese" EXACT [NORD:1088] -synonym: "Japanese B encephalitis" EXACT [DOID:10844] +synonym: "Japanese B encephalitis" EXACT [DOID:10844, icd11.foundation:961032639, NCIT:C34577] synonym: "JE" RELATED ABBREVIATION [GARD:0006797] xref: DOID:10844 {source="MONDO:equivalentTo", source="EFO:0007332"} xref: EFO:0007332 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -434794,21 +434881,21 @@ subset: orphanet_rare {source="Orphanet:79140"} subset: rare synonym: "carcinoma of Merkel cell" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, Merkel cell" RELATED [GARD:0009266] -synonym: "cutaneous APUDoma" EXACT [NCIT:C9231] -synonym: "cutaneous neuroendocrine carcinoma" EXACT [NCIT:C9231] -synonym: "MCC" EXACT ABBREVIATION [ONCOTREE:MCC, Orphanet:79140] +synonym: "cutaneous APUDoma" EXACT [] +synonym: "cutaneous neuroendocrine carcinoma" EXACT [icd11.foundation:680322043, Orphanet:79140] +synonym: "MCC" EXACT ABBREVIATION [NCIT:C9231, ONCOTREE:MCC, Orphanet:79140] synonym: "Merkel cell cancer" EXACT [NCIT:C9231] -synonym: "Merkel Cell Carcinoma" EXACT [NORD:1947] +synonym: "Merkel Cell Carcinoma" EXACT [NCIT:C9231, NORD:1947, Orphanet:79140] synonym: "Merkel cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C9231, Orphanet:79140] synonym: "Merkel cell tumor" EXACT [NCIT:C9231] synonym: "Merkel cell tumour" EXACT OMO:0003005 [] synonym: "Merkle tumors" RELATED [GARD:0009266] synonym: "Merkle tumours" RELATED OMO:0003005 [] -synonym: "neuroendocrine carcinoma of skin" EXACT [NCIT:C9231] -synonym: "neuroendocrine carcinoma of the skin" EXACT [NCIT:C9231] -synonym: "neuroendocrine skin carcinoma" EXACT [NCIT:C9231] -synonym: "trabecular cancer" EXACT [NCIT:C9231] -synonym: "trabecular skin carcinoma" EXACT [NCIT:C9231] +synonym: "neuroendocrine carcinoma of skin" EXACT [] +synonym: "neuroendocrine carcinoma of the skin" EXACT [] +synonym: "neuroendocrine skin carcinoma" EXACT [] +synonym: "trabecular cancer" EXACT [] +synonym: "trabecular skin carcinoma" EXACT [] xref: GARD:9266 {source="MONDO:GARD"} xref: ICD10CM:C44.3 {source="Orphanet:79140", source="Orphanet:79140/btnt"} xref: ICD10CM:C44.6 {source="Orphanet:79140", source="Orphanet:79140/btnt"} @@ -434897,9 +434984,9 @@ subset: disease_grouping subset: gard_rare {source="GARD:18946", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79161"} subset: rare -synonym: "carbohydrate metabolic disorder" RELATED [DOID:2978] +synonym: "carbohydrate metabolic disorder" RELATED [] synonym: "carbohydrate metabolism disorder" EXACT [NCIT:C97089] -synonym: "disorder of carbohydrate metabolism" RELATED [Orphanet:79161] +synonym: "disorder of carbohydrate metabolism" RELATED [] synonym: "disorder of carbohydrate transport and metabolism" EXACT [DOID:2978] synonym: "inborn carbohydrate metabolic process disorder" EXACT [] synonym: "inborn carbohydrate metabolism disorder" EXACT [DOID:2978] @@ -434941,7 +435028,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18948", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79166"} subset: rare -synonym: "disorder of amino acid absorption and transport" RELATED [Orphanet:79166] +synonym: "disorder of amino acid absorption and transport" RELATED [] synonym: "inborn disorder of amino acid absorption and transport" EXACT [] xref: GARD:18948 {source="MONDO:GARD"} xref: ICD10CM:E72.0 {source="Orphanet:79166/e", source="Orphanet:79166/specific", source="Orphanet:79166"} @@ -434973,7 +435060,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:854"} subset: ordo_group_of_disorders {source="Orphanet:79168"} subset: rare synonym: "Bile Acid Synthesis Disorders" EXACT [NORD:854] -synonym: "disorder of bile acid synthesis" RELATED [Orphanet:79168] +synonym: "disorder of bile acid synthesis" RELATED [] synonym: "inborn bile acid biosynthetic process disorder" EXACT [] synonym: "inborn error of bile acid biosynthetic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn errors of bile acid synthesis" RELATED [GTR:AN0923838] @@ -434996,7 +435083,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18950", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79169"} subset: rare -synonym: "disorder of neurotransmitter metabolism and transport" RELATED [Orphanet:79169] +synonym: "disorder of neurotransmitter metabolism and transport" RELATED [] xref: GARD:18950 {source="MONDO:GARD"} xref: MEDGEN:1842206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:79169 {source="MONDO:equivalentTo"} @@ -435013,9 +435100,9 @@ subset: gard_rare {source="GARD:18951", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79171"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cobalamin deficiency" BROAD [DOID:0050731] -synonym: "disorder of cobalamin metabolism and transport" RELATED [Orphanet:79171] -synonym: "hypocobalaminemia" BROAD [DOID:0050731] +synonym: "cobalamin deficiency" BROAD [] +synonym: "disorder of cobalamin metabolism and transport" RELATED [] +synonym: "hypocobalaminemia" BROAD [] synonym: "inborn disorder of cobalamin metabolism and transport" EXACT CLINGEN_LABEL [] synonym: "inborn error of cobalamin metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn vitamin B12 deficiency (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] @@ -435051,7 +435138,7 @@ subset: ordo_group_of_disorders {source="Orphanet:79173"} subset: rare synonym: "cytosolic methyl group transfer or sulfur amino acid metabolism disorder" EXACT [Orphanet:79173] synonym: "cytosolic methyl group transfer or sulphur amino acid metabolism disorder" EXACT OMO:0003005 [] -synonym: "disorder of methionine cycle and sulfur amino acid metabolism" RELATED [Orphanet:79173] +synonym: "disorder of methionine cycle and sulfur amino acid metabolism" RELATED [] synonym: "disorder of methionine cycle and sulphur amino acid metabolism" RELATED OMO:0003005 [] synonym: "inborn error of sulfur amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn error of sulphur amino acid metabolic process" EXACT OMO:0003005 [] @@ -435078,8 +435165,8 @@ subset: disease_grouping subset: gard_rare {source="GARD:18954", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79174"} subset: rare -synonym: "disorder of fatty acid oxidation and ketone body metabolism" RELATED [Orphanet:79174] -synonym: "inborn disorder of fatty acid oxidation and ketone body metabolism" EXACT [Orphanet:79174] +synonym: "disorder of fatty acid oxidation and ketone body metabolism" RELATED [] +synonym: "inborn disorder of fatty acid oxidation and ketone body metabolism" EXACT [] xref: GARD:18954 {source="MONDO:GARD"} xref: ICD10CM:E71.3 {source="Orphanet:79174", source="Orphanet:79174/attributed", source="Orphanet:79174/ntbt"} xref: MEDGEN:1842462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -435092,8 +435179,8 @@ id: MONDO:0019224 name: obsolete inborn disorder of gamma-aminobutyric acid metabolism def: "OBSOLETE. An inherited metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process." [MONDO:patterns/inborn_metabolic] subset: otar {source="MONDO:OTAR"} -synonym: "disorder of GABA metabolism" EXACT [Orphanet:79175] -synonym: "disorder of gamma-aminobutyric acid metabolism" RELATED [Orphanet:79175] +synonym: "disorder of GABA metabolism" EXACT [] +synonym: "disorder of gamma-aminobutyric acid metabolism" RELATED [] synonym: "inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn gamma-aminobutyric acid metabolic process disorder" EXACT [] synonym: "rare inborn error of gamma-aminobutyric acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] @@ -435114,7 +435201,7 @@ subset: gard_rare {source="GARD:18956", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79177"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gluconeogenesis disorder" EXACT [MONDO:patterns/inborn_metabolic] +synonym: "gluconeogenesis disorder" EXACT [MONDO:patterns/inborn_metabolic, Orphanet:79177] synonym: "inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn gluconeogenesis disorder" EXACT [] synonym: "rare inborn error of gluconeogenesis" EXACT [MONDO:patterns/inborn_metabolic] @@ -435154,7 +435241,7 @@ id: MONDO:0019227 name: obsolete inborn disorder of glycerol metabolism def: "OBSOLETE. An inherited metabolic disease that is has its basis in the disruption of glycerol metabolic process." [MONDO:patterns/inborn_metabolic] subset: ordo_group_of_disorders {source="Orphanet:79179"} -synonym: "disorder of glycerol metabolism" RELATED [Orphanet:79179] +synonym: "disorder of glycerol metabolism" RELATED [] synonym: "inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn glycerol metabolic process disorder" EXACT [] synonym: "rare inborn error of glycerol metabolic process" EXACT [MONDO:patterns/inborn_metabolic] @@ -435176,7 +435263,7 @@ subset: ordo_group_of_disorders {source="Orphanet:79181"} subset: rare synonym: "disorder of histidine metabolic process" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of histidine metabolism" EXACT [Orphanet:79181] -synonym: "disturbance of histidine metabolism" EXACT [DOID:9265] +synonym: "disturbance of histidine metabolism" EXACT [] synonym: "histidine metabolic process disease" EXACT [MONDO:design_pattern] synonym: "histidine metabolism disease" EXACT [DOID:9265, MONDO:0004738] synonym: "inborn disorder of histidine metabolism" EXACT [MONDO:patterns/inborn_metabolic] @@ -435214,7 +435301,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18960", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79183"} subset: rare -synonym: "disorder of ketolysis" BROAD [Orphanet:79183] +synonym: "disorder of ketolysis" BROAD [] synonym: "inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn ketone body catabolic process disorder" EXACT [] synonym: "rare inborn error of ketone body catabolic process" EXACT [MONDO:patterns/inborn_metabolic] @@ -435235,7 +435322,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18961", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79185"} subset: rare -synonym: "disorder of ornithine or proline metabolism" RELATED [Orphanet:79185] +synonym: "disorder of ornithine or proline metabolism" RELATED [] xref: GARD:18961 {source="MONDO:GARD"} xref: MEDGEN:1842760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:79185 {source="MONDO:equivalentTo"} @@ -435249,7 +435336,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18962", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79186"} subset: rare -synonym: "disorder of pentose phosphate metabolism" RELATED [Orphanet:79186] +synonym: "disorder of pentose phosphate metabolism" RELATED [] xref: GARD:18962 {source="MONDO:GARD"} xref: ICD10CM:E74.8 {source="Orphanet:79186", source="Orphanet:79186/attributed", source="Orphanet:79186/ntbt"} xref: icd11.foundation:2067324607 {source="MONDO:equivalentTo", source="Orphanet:79186", source="https://orcid.org/0000-0001-5208-3432"} @@ -435267,7 +435354,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18963", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79187"} subset: rare -synonym: "disorder of peptide metabolism" RELATED [Orphanet:79187] +synonym: "disorder of peptide metabolism" RELATED [] xref: GARD:18963 {source="MONDO:GARD"} xref: icd11.foundation:1488430462 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:79187"} xref: MEDGEN:1843166 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -435311,11 +435398,11 @@ synonym: "cerebrohepatorenal syndrome" NARROW [https://ghr.nlm.nih.gov/condition synonym: "disorders of peroxisome biogenesis" RELATED [GARD:0009473] synonym: "PBD, ZSS" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165] synonym: "PBD-Zellweger spectrum disorder" RELATED [GARD:0011890] -synonym: "PBD-ZSD" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165] +synonym: "PBD-ZSD" EXACT ABBREVIATION [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165, NCIT:C146639, Orphanet:79189] synonym: "PBD-ZSS" RELATED [GARD:0011890] synonym: "peroxisomal biogenesis disorders" EXACT [GARD:0009473] synonym: "peroxisomal biogenesis disorders, Zellweger syndrome spectrum" EXACT [GARD:0011890] -synonym: "peroxisome biogenesis disorder" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] +synonym: "peroxisome biogenesis disorder" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, NCIT:C155747, OMIMPS:214100, Orphanet:79189] synonym: "peroxisome biogenesis disorder spectrum" EXACT [Orphanet:79189] synonym: "peroxisome biogenesis disorder-Zellweger syndrome spectrum" EXACT [GARD:0011890] synonym: "peroxisome biogenesis disorders, Zellweger syndrome spectrum" EXACT [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, https://orcid.org/0000-0002-6601-2165] @@ -435356,7 +435443,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18964", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79190"} subset: rare -synonym: "disorder of phenylalanin or tyrosine metabolism" RELATED [Orphanet:79190] +synonym: "disorder of phenylalanin or tyrosine metabolism" RELATED [] synonym: "inborn disorder of phenylalanin or tyrosine metabolism" EXACT [MONDO:patterns/inborn_metabolic] xref: GARD:18964 {source="MONDO:GARD"} xref: MEDGEN:1842953 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -435374,7 +435461,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18965", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79191"} subset: rare -synonym: "disorder of purine metabolism" RELATED [Orphanet:79191] +synonym: "disorder of purine metabolism" RELATED [] synonym: "inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn purine nucleobase metabolic process disorder" EXACT [] synonym: "rare inborn error of purine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] @@ -435394,7 +435481,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18966", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79192"} subset: rare -synonym: "disorder of pyridoxine metabolism" RELATED [Orphanet:79192] +synonym: "disorder of pyridoxine metabolism" RELATED [] synonym: "inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn pyridoxine metabolic process disorder" EXACT [] synonym: "rare inborn error of pyridoxine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] @@ -435416,10 +435503,10 @@ subset: disease_grouping subset: gard_rare {source="GARD:18967", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79193"} subset: rare -synonym: "disorder of pyrimidine metabolism" RELATED [Orphanet:79193] +synonym: "disorder of pyrimidine metabolism" RELATED [] synonym: "inborn error of pyrimidine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn pyrimidine nucleobase metabolic process disorder" EXACT [] -synonym: "pyrimidine metabolic disorder" EXACT [MONDO:0000475] +synonym: "pyrimidine metabolic disorder" EXACT [DOID:0050832, MONDO:0000475] synonym: "rare inborn error of pyrimidine nucleobase metabolic process" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:0050832 {source="MONDO:equivalentTo"} xref: GARD:18967 {source="MONDO:GARD"} @@ -435440,8 +435527,8 @@ subset: disease_grouping subset: gard_rare {source="GARD:18968", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79194"} subset: rare -synonym: "disorder of serine or glycine metabolism" RELATED [Orphanet:79194] -synonym: "inborn disorder of serine or glycine metabolism" EXACT [Orphanet:79194] +synonym: "disorder of serine or glycine metabolism" RELATED [] +synonym: "inborn disorder of serine or glycine metabolism" EXACT [] synonym: "inborn error of serine family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn serine family amino acid metabolic process disorder" EXACT [] synonym: "rare inborn error of serine family amino acid metabolic process" EXACT [MONDO:patterns/inborn_metabolic] @@ -435482,7 +435569,7 @@ subset: gard_rare {source="GARD:18970", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79196"} subset: rare synonym: "disorder of gamma-glutamyl cycle" RELATED [] -synonym: "disorder of the gamma-glutamyl cycle" RELATED [Orphanet:79196] +synonym: "disorder of the gamma-glutamyl cycle" RELATED [] xref: GARD:18970 {source="MONDO:GARD"} xref: ICD10CM:E72.8 {source="Orphanet:79196/inclusion", source="Orphanet:79196", source="Orphanet:79196/ntbt"} xref: icd11.foundation:34853044 {source="MONDO:equivalentTo", source="Orphanet:79196", source="https://orcid.org/0000-0001-5208-3432"} @@ -435532,7 +435619,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18972", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79200"} subset: rare -synonym: "disorder of energy metabolism" RELATED [Orphanet:79200] +synonym: "disorder of energy metabolism" RELATED [] synonym: "inborn error of generation of precursor metabolites and energy" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn generation of precursor metabolites and energy disorder" EXACT [] synonym: "rare inborn error of generation of precursor metabolites and energy" EXACT [MONDO:patterns/inborn_metabolic] @@ -435561,14 +435648,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "inborn error of lipid storage" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn lipid storage disorder" EXACT [DOID:9455] -synonym: "lipid storage disease" EXACT [DOID:9455] +synonym: "lipid storage disease" EXACT [DOID:9455, Orphanet:79204] synonym: "lipidoses" RELATED [] synonym: "lipidosis" RELATED [] synonym: "lipoid storage diseas" EXACT [DOID:9455] synonym: "lipoid storage disease" EXACT [] synonym: "lipoid storage disorder" EXACT [] synonym: "lipoidoses" RELATED [] -synonym: "lipoidosis" RELATED [DOID:9455] +synonym: "lipoidosis" RELATED [] synonym: "rare inborn error of lipid storage" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:9455 {source="MONDO:equivalentTo"} xref: GARD:12511 {source="MONDO:GARD"} @@ -435603,7 +435690,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18974", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79207"} subset: rare -synonym: "disorder of lysosomal amino acid transport" RELATED [Orphanet:79207] +synonym: "disorder of lysosomal amino acid transport" RELATED [] xref: GARD:18974 {source="MONDO:GARD"} xref: MEDGEN:1842266 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:79207 {source="MONDO:equivalentTo"} @@ -435650,9 +435737,9 @@ subset: ordo_group_of_disorders {source="Orphanet:79213"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MPS" RELATED ABBREVIATION [GARD:0007065] -synonym: "Mucopolysaccharidoses" EXACT [NORD:1461] +synonym: "Mucopolysaccharidoses" EXACT [NORD:1461, OMIMPS:607014] synonym: "mucopolysaccharidoses" EXACT [OMIMPS:607014] -synonym: "mucopolysaccharidosis" EXACT [NCIT:C61259] +synonym: "mucopolysaccharidosis" EXACT [DOID:12798, icd11.foundation:1596128696, NCIT:C61259, Orphanet:79213] xref: DOID:12798 {source="MONDO:equivalentTo"} xref: GARD:7065 {source="MONDO:GARD"} xref: ICD10CM:E76.0 {source="Orphanet:79213/specific", source="Orphanet:79213/btnt", source="Orphanet:79213"} @@ -435688,7 +435775,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:18976", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79214"} subset: rare -synonym: "disorder of biogenic amine metabolism and transport" RELATED [Orphanet:79214] +synonym: "disorder of biogenic amine metabolism and transport" RELATED [] xref: GARD:18976 {source="MONDO:GARD"} xref: MEDGEN:1842301 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:79214 {source="MONDO:equivalentTo"} @@ -435744,10 +435831,10 @@ subset: disease_grouping subset: gard_rare {source="GARD:18980", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79224"} subset: rare -synonym: "disorder of purine or pyrimidine metabolism" RELATED [Orphanet:79224] +synonym: "disorder of purine or pyrimidine metabolism" RELATED [] synonym: "inborn errors of purine-pyrimidine metabolism" EXACT [DOID:653] synonym: "inborn purine-pyrimidine metabolic disorder" EXACT [MONDO:0003914] -synonym: "purine-pyrimidine metabolic disorder" RELATED [DOID:653] +synonym: "purine-pyrimidine metabolic disorder" RELATED [] xref: DOID:653 {source="MONDO:equivalentTo"} xref: GARD:18980 {source="MONDO:GARD"} xref: ICD10CM:E79.0 {source="Orphanet:79224/specific", source="Orphanet:79224/btnt", source="Orphanet:79224"} @@ -435780,7 +435867,7 @@ subset: ordo_group_of_disorders {source="Orphanet:79225"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "sphingolipidoses" EXACT [DOID:1927] -synonym: "sphingolipidosis, NOS" RELATED EXCLUDE [DOID:1927] +synonym: "sphingolipidosis, NOS" RELATED EXCLUDE [] xref: DOID:1927 {source="MONDO:equivalentTo"} xref: GARD:7672 {source="MONDO:GARD"} xref: ICD10CM:E75.0 {source="Orphanet:79225/specific", source="Orphanet:79225/btnt", source="Orphanet:79225"} @@ -435834,7 +435921,7 @@ synonym: "hemochromatosis juvenile" RELATED [GARD:0010092] synonym: "HFE2" EXACT ABBREVIATION [DOID:0111034] synonym: "iron overload disease juvenile" RELATED [GARD:0010092] synonym: "JHH" EXACT ABBREVIATION [DOID:0111034] -synonym: "Juvenile Hemochromatosis" EXACT [NORD:1315] +synonym: "Juvenile Hemochromatosis" EXACT [DOID:0111034, NORD:1315, Orphanet:79230] synonym: "juvenile hemochromatosis" EXACT [DOID:0111034, Orphanet:79230] xref: DOID:0111034 {source="MONDO:equivalentTo"} xref: GARD:10092 {source="MONDO:GARD"} @@ -435899,12 +435986,12 @@ subset: gard_rare {source="GARD:10973", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1341"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult NCL" EXACT [Orphanet:79262] -synonym: "adult neuronal ceroid lipofuscinosis" EXACT CLINGEN_LABEL [] -synonym: "ANCL" EXACT ABBREVIATION [Orphanet:79262] +synonym: "adult NCL" EXACT [] +synonym: "adult neuronal ceroid lipofuscinosis" EXACT CLINGEN_LABEL [icd11.foundation:1460031344] +synonym: "ANCL" EXACT ABBREVIATION [] synonym: "CLN4 disease, adult autosomal dominant" RELATED [GARD:0010973] synonym: "Kuf's disease" RELATED [GARD:0010973] -synonym: "Kufs disease" EXACT [Orphanet:79262] +synonym: "Kufs disease" EXACT [icd11.foundation:1460031344] synonym: "neuronal ceroid lipofuscinosis 4" RELATED [GARD:0010973] synonym: "neuronal ceroid lipofuscinosis of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: GARD:10973 {source="MONDO:GARD"} @@ -435935,11 +436022,11 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1689"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Classic Infantile CLN1 Disease" EXACT [NORD:1689] -synonym: "Hagberg-Santavuori disease" EXACT [Orphanet:79263] -synonym: "INCL" EXACT ABBREVIATION [Orphanet:79263] -synonym: "infantile NCL" EXACT [Orphanet:79263] -synonym: "Santavuori disease" EXACT [Orphanet:79263] -synonym: "Santavuori-Haltia disease" EXACT [Orphanet:79263] +synonym: "Hagberg-Santavuori disease" EXACT [icd11.foundation:797123687] +synonym: "INCL" EXACT ABBREVIATION [] +synonym: "infantile NCL" EXACT [] +synonym: "Santavuori disease" EXACT [icd11.foundation:797123687] +synonym: "Santavuori-Haltia disease" EXACT [icd11.foundation:797123687] xref: GARD:9447 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="Orphanet:79263", source="Orphanet:79263/attributed", source="Orphanet:79263/ntbt"} xref: icd11.foundation:797123687 {source="MONDO:equivalentTo"} @@ -435967,11 +436054,11 @@ subset: gard_rare {source="GARD:4938", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "batten disease" EXACT [MONDO:0000439, Orphanet:79264] -synonym: "JNCL" EXACT ABBREVIATION [Orphanet:79264] -synonym: "juvenile NCL" EXACT [Orphanet:79264] -synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT [DOID:0050756] -synonym: "Spielmeyer-Vogt disease" EXACT [Orphanet:79264] +synonym: "batten disease" EXACT [MONDO:0000439] +synonym: "JNCL" EXACT ABBREVIATION [] +synonym: "juvenile NCL" EXACT [] +synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT [icd11.foundation:1716107919] +synonym: "Spielmeyer-Vogt disease" EXACT [icd11.foundation:1716107919] xref: DOID:0050756 {source="MONDO:equivalentObsolete"} xref: GARD:4938 {source="MONDO:GARD"} xref: ICD10CM:E75.4 {source="Orphanet:79264/attributed", source="Orphanet:79264/ntbt", source="Orphanet:79264"} @@ -436016,8 +436103,8 @@ subset: gard_rare {source="GARD:3903", source="MONDO:GARD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79281"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NAGA deficiency type 3" EXACT [Orphanet:79281] -synonym: "Schindler disease type 3" EXACT [Orphanet:79281] +synonym: "NAGA deficiency type 3" EXACT [DOID:0112320, Orphanet:79281] +synonym: "Schindler disease type 3" EXACT [DOID:0112320, icd11.foundation:1639349183, Orphanet:79281] xref: DOID:0112320 {source="MONDO:equivalentTo"} xref: GARD:3903 {source="MONDO:GARD"} xref: ICD10CM:E77.1 {source="Orphanet:79281/attributed", source="Orphanet:79281/ntbt", source="Orphanet:79281"} @@ -436112,7 +436199,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79353"} subset: otar {source="MONDO:OTAR"} synonym: "epidermal disease" EXACT [Orphanet:79353] -synonym: "rare epidermal disease" EXACT [Orphanet:79353] +synonym: "rare epidermal disease" EXACT [] xref: MEDGEN:1842776 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:79353 {source="MONDO:equivalentTo"} xref: UMLS:C5681492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1842776"} @@ -436135,9 +436222,9 @@ synonym: "DOC" EXACT ABBREVIATION [PMID:20643494] synonym: "fish scale disease" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "fish skin disease" EXACT [https://orcid.org/0000-0002-0736-9199] synonym: "ichthyoses" EXACT [DOID:1697] -synonym: "ichthyosis" EXACT [MONDO:ambiguous] +synonym: "ichthyosis" EXACT [DOID:1697, MONDO:ambiguous, NCIT:C84776, Orphanet:79354] synonym: "ichthyosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "non-syndromic ichthyosis" RELATED [DOID:1697] +synonym: "non-syndromic ichthyosis" RELATED [] xref: DOID:1697 {source="MONDO:equivalentTo"} xref: GARD:18985 {source="MONDO:GARD"} xref: HP:0008064 {source="MONDO:otherHierarchy"} @@ -436302,7 +436389,7 @@ subset: gard_rare {source="GARD:18996", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79365"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hypertrichosis" EXACT [MONDO:ambiguous] +synonym: "hypertrichosis" EXACT [DOID:420, icd11.foundation:2042627850, MONDO:ambiguous] synonym: "hypertrichosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:420 {source="MONDO:equivalentTo"} xref: GARD:18996 {source="MONDO:GARD"} @@ -436330,7 +436417,7 @@ property_value: IAO:0000589 "hypertrichosis (disease)" xsd:string id: MONDO:0019281 name: obsolete isolated genetic hair shaft abnormality subset: ordo_group_of_disorders {source="Orphanet:79366"} -synonym: "isolated hair shaft abnormality" RELATED [Orphanet:79366] +synonym: "isolated hair shaft abnormality" RELATED [] xref: Orphanet:79366 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -436374,8 +436461,8 @@ subset: gard_rare {source="GARD:19000", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:79369"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "isolated nail anomaly" RELATED [Orphanet:79369] -synonym: "nail disorder, nonsyndromic congenital" EXACT [MONDO:0000073] +synonym: "isolated nail anomaly" RELATED [] +synonym: "nail disorder, nonsyndromic congenital" EXACT [MONDO:0000073, OMIMPS:161050] synonym: "nonsyndromic nail anomaly" EXACT [MONDO:patterns/isolated] xref: DOID:0080683 {source="MONDO:equivalentTo"} xref: GARD:19000 {source="MONDO:GARD"} @@ -436427,7 +436514,7 @@ subset: ordo_group_of_disorders {source="Orphanet:79373"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital ectodermal defect" EXACT [DOID:2121] -synonym: "ectodermal dysplasia" EXACT [Orphanet:79373] +synonym: "ectodermal dysplasia" EXACT [DOID:2121, NCIT:C84683, OMIMPS:305100, Orphanet:79373] synonym: "ectodermal dysplasia (select examples)" EXACT [OMIMPS:305100] xref: DOID:2121 {source="MONDO:equivalentTo"} xref: GARD:6317 {source="MONDO:GARD"} @@ -436453,8 +436540,8 @@ def: "A pigmentation disease that involves the zone of skin." [MONDO:design_patt subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79374"} subset: otar {source="MONDO:OTAR"} -synonym: "pigmentation anomaly of the skin" EXACT [] -synonym: "pigmentation disease" RELATED [DOID:10123] +synonym: "pigmentation anomaly of the skin" EXACT [Orphanet:79374] +synonym: "pigmentation disease" RELATED [] synonym: "pigmentation disease of zone of skin" EXACT [MONDO:design_pattern] synonym: "zone of skin pigmentation disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:10123 {source="MONDO:equivalentTo", source="EFO:1000755"} @@ -436492,7 +436579,7 @@ subset: ordo_group_of_disorders {source="Orphanet:79376"} subset: otar {source="MONDO:OTAR"} synonym: "hypomelanoses" RELATED [MESH:D017496] synonym: "hypomelanosis" RELATED [MESH:D017496] -synonym: "hypopigmentation of the skin" EXACT [MONDO:ambiguous] +synonym: "hypopigmentation of the skin" EXACT [MONDO:ambiguous, Orphanet:79376] synonym: "hypopigmentation of the skin (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: HP:0001010 {source="MONDO:otherHierarchy"} xref: MedDRA:10040868 {source="Orphanet:79376/e", source="Orphanet:79376"} @@ -436511,7 +436598,7 @@ id: MONDO:0019291 name: obsolete rare genetic dermis disorder subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79377"} -synonym: "dermis disorder" RELATED [Orphanet:79377] +synonym: "dermis disorder" RELATED [] xref: Orphanet:79377 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -436542,7 +436629,7 @@ synonym: "superficial vasculature disease" EXACT [MONDO:patterns/location] synonym: "vascular disease of the skin" EXACT [] synonym: "vascular disorder of skin" RELATED [] synonym: "vascular disorders of skin" RELATED [] -synonym: "vascular skin disease" EXACT [MONDO:0004814] +synonym: "vascular skin disease" EXACT [DOID:9540, MONDO:0004814] synonym: "vasculature skin disease" EXACT [MONDO:patterns/location] xref: DOID:9540 {source="MONDO:equivalentTo"} xref: ICD9:709.1 {source="DOID:9540"} @@ -436611,11 +436698,11 @@ def: "Excess fluid collection in tissues, causing swelling. It is the result of subset: disease_grouping subset: otar {source="MONDO:OTAR"} synonym: "lymphatic edema" EXACT [DOID:4977] -synonym: "lymphatic edema (morphologic abnormality)" EXACT [DOID:4977] +synonym: "lymphatic edema (morphologic abnormality)" EXACT [] synonym: "lymphatic oedema" EXACT OMO:0003005 [] synonym: "lymphatic oedema (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "lymphoedema" EXACT [DOID:4977] -synonym: "lymphoedema NOS" RELATED EXCLUDE [DOID:4977] +synonym: "lymphoedema NOS" RELATED EXCLUDE [] xref: DOID:4977 {source="MONDO:equivalentTo"} xref: ICD9:457.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MedDRA:10025282 {source="Orphanet:79383", source="Orphanet:79383/e"} @@ -436696,7 +436783,7 @@ subset: ordo_group_of_disorders {source="Orphanet:79389"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "premature ageing" RELATED OMO:0003005 [] -synonym: "premature aging" RELATED [Orphanet:79389] +synonym: "premature aging" RELATED [] xref: GARD:19017 {source="MONDO:GARD"} xref: MedDRA:10063493 {source="Orphanet:79389/e", source="Orphanet:79389"} xref: MEDGEN:65416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -436713,7 +436800,7 @@ id: MONDO:0019304 name: obsolete rare photodermatosis subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:79390"} -synonym: "rare skin photosensitivity" EXACT [Orphanet:79390] +synonym: "rare skin photosensitivity" EXACT [] xref: Orphanet:79390 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -436741,17 +436828,17 @@ subset: ordo_disorder {source="Orphanet:79394"} subset: orphanet_rare {source="Orphanet:79394"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "alligator skin" EXACT [DOID:1699] +synonym: "alligator skin" EXACT [] synonym: "CIE" EXACT ABBREVIATION [Orphanet:79394] -synonym: "congenital ichthyosiform erythroderma" EXACT [MONDO:ambiguous] +synonym: "congenital ichthyosiform erythroderma" EXACT [MONDO:ambiguous, Orphanet:79394] synonym: "congenital ichthyosiform erythroderma (disease)" EXACT [MONDO:0002080] -synonym: "congenital non bullous ichthyosiform erythroderma" EXACT [DOID:1699] +synonym: "congenital non bullous ichthyosiform erythroderma" EXACT [] synonym: "erythrodermic ichthyosis" EXACT [Orphanet:79394] -synonym: "ichthyosiform erythroderma" EXACT [DOID:1699] -synonym: "lamellar desquamation of the newborn" RELATED [DOID:1699] -synonym: "lamellar ichthyosis" RELATED [DOID:1699] +synonym: "ichthyosiform erythroderma" EXACT [] +synonym: "lamellar desquamation of the newborn" RELATED [] +synonym: "lamellar ichthyosis" RELATED [] synonym: "non-bullous congenital ichthyosiform erythroderma" EXACT [Orphanet:79394] -synonym: "nonbullous congenital ichthyosiform erythroderma" EXACT [DOID:1699] +synonym: "nonbullous congenital ichthyosiform erythroderma" EXACT [] xref: DOID:1699 {source="MONDO:equivalentObsolete"} xref: GARD:9736 {source="MONDO:GARD"} xref: HP:0007431 {source="MONDO:otherHierarchy"} @@ -436790,20 +436877,20 @@ subset: ordo_disorder {source="Orphanet:79402"} subset: orphanet_rare {source="Orphanet:79402"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GABEB" EXACT ABBREVIATION [DOID:0060738, Orphanet:79402] +synonym: "GABEB" EXACT ABBREVIATION [DOID:0060738] synonym: "generalised atrophic benign epidermolysis bullosa" EXACT OMO:0003005 [] synonym: "generalised junctional epidermolysis bullosa, non-Herlitz type" EXACT OMO:0003005 [] synonym: "generalized atrophic benign epidermolysis bullosa" EXACT [DOID:0060738, Orphanet:79402] -synonym: "generalized junctional epidermolysis bullosa, non-Herlitz type" EXACT [DOID:0060738] +synonym: "generalized junctional epidermolysis bullosa, non-Herlitz type" EXACT [DOID:0060738, Orphanet:79402] synonym: "JEB, generalised intermediate" EXACT OMO:0003005 [] -synonym: "JEB, generalized intermediate" EXACT [Orphanet:79402] -synonym: "JEB-nH gen" EXACT [DOID:0060738, Orphanet:79402] -synonym: "JEN-nH" RELATED EXCLUDE [DOID:0060738] +synonym: "JEB, generalized intermediate" EXACT [] +synonym: "JEB-nH gen" EXACT ABBREVIATION [DOID:0060738] +synonym: "JEN-nH" RELATED EXCLUDE [] synonym: "junctional epidermolysis bullosa generalisata mitis" EXACT [DOID:0060738, Orphanet:79402] -synonym: "junctional epidermolysis bullosa non-Herlitz type" RELATED [DOID:0060738] +synonym: "junctional epidermolysis bullosa non-Herlitz type" RELATED [] synonym: "junctional epidermolysis bullosa, Disentis type" EXACT [DOID:0060738, Orphanet:79402] synonym: "junctional epidermolysis bullosa, generalised intermediate" RELATED OMO:0003005 [] -synonym: "junctional epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:79402] +synonym: "junctional epidermolysis bullosa, generalized intermediate" RELATED [] xref: DOID:0060738 {source="MONDO:equivalentTo"} xref: GARD:12922 {source="MONDO:GARD"} xref: ICD10CM:Q81.8 {source="Orphanet:79402", source="Orphanet:79402/attributed", source="Orphanet:79402/ntbt", source="DOID:0060738"} @@ -436824,9 +436911,9 @@ subset: ordo_disorder {source="Orphanet:79405"} subset: orphanet_rare {source="Orphanet:79405"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EBJ-I" EXACT [Orphanet:79405] -synonym: "inverse JEB" EXACT [Orphanet:79405] -synonym: "JEB-I" EXACT [Orphanet:79405] +synonym: "EBJ-I" EXACT [] +synonym: "inverse JEB" EXACT [] +synonym: "JEB-I" EXACT ABBREVIATION [Orphanet:79405] xref: GARD:2143 {source="MONDO:GARD"} xref: ICD10CM:Q81.8 {source="Orphanet:79405", source="Orphanet:79405/attributed", source="Orphanet:79405/ntbt"} xref: icd11.foundation:1191822552 {source="MONDO:equivalentTo"} @@ -436845,7 +436932,7 @@ subset: ordo_disorder {source="Orphanet:79406"} subset: orphanet_rare {source="Orphanet:79406"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EB progressive" EXACT [Orphanet:79406] +synonym: "EB progressive" EXACT [] synonym: "JEB-lo" EXACT [Orphanet:79406] xref: GARD:12921 {source="MONDO:GARD"} xref: ICD10CM:Q81.8 {source="Orphanet:79406/attributed", source="Orphanet:79406/ntbt", source="Orphanet:79406"} @@ -436866,10 +436953,10 @@ subset: ordo_disorder {source="Orphanet:79409"} subset: orphanet_rare {source="Orphanet:79409"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dystrophic epidermolysis bullosa inversa" EXACT [Orphanet:79409] -synonym: "inverse RDEB" EXACT [Orphanet:79409] -synonym: "inverse recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:79409] -synonym: "RDEB-I" EXACT [Orphanet:79409] +synonym: "dystrophic epidermolysis bullosa inversa" EXACT [] +synonym: "inverse RDEB" EXACT [] +synonym: "inverse recessive dystrophic epidermolysis bullosa" EXACT [] +synonym: "RDEB-I" EXACT ABBREVIATION [Orphanet:79409] xref: GARD:16720 {source="MONDO:GARD"} xref: ICD10CM:Q81.2 {source="Orphanet:79409", source="Orphanet:79409/attributed", source="Orphanet:79409/ntbt"} xref: icd11.foundation:495465277 {source="MONDO:equivalentTo"} @@ -436910,7 +436997,7 @@ subset: rare synonym: "Hepatopulmonary Syndrome" EXACT [NORD:1918] synonym: "Hermansky Pudlak syndrome" RELATED [GARD:0006643] synonym: "HPS" EXACT ABBREVIATION [Orphanet:79430] -synonym: "HPS (Hermansky Pudlak syndrome)" EXACT [DOID:3753] +synonym: "HPS (Hermansky Pudlak syndrome)" EXACT [] xref: DOID:3753 {source="MONDO:equivalentTo"} xref: GARD:6643 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="MONDO:relatedTo", source="Orphanet:79430/inclusion", source="Orphanet:79430", source="Orphanet:79430/ntbt"} @@ -436945,8 +437032,8 @@ def: "Primary lymphedema is caused by anatomic or functional defects in the lymp subset: gard_rare {source="GARD:13057", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary lymphedema" EXACT [MONDO:patterns/hereditary] -synonym: "lymphedema, hereditary" EXACT [OMIMPS:153100] +synonym: "hereditary lymphedema" EXACT [DOID:0050580, ICD10CM:Q82.0, MONDO:patterns/hereditary] +synonym: "lymphedema, hereditary" EXACT [] xref: DOID:0050580 {source="MONDO:equivalentTo"} xref: GARD:13057 {source="MONDO:GARD"} xref: ICD10CM:Q82.0 {source="MONDO:equivalentTo", source="Orphanet:79452", source="Orphanet:79452/attributed", source="Orphanet:79452/ntbt"} @@ -437000,9 +437087,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:79456"} subset: orphanet_rare {source="Orphanet:79456"} subset: rare -synonym: "DCM" BROAD ABBREVIATION [Orphanet:79456] +synonym: "DCM" BROAD ABBREVIATION [] synonym: "diffuse cutaneous maculopapulous mastocytosis" EXACT [Orphanet:79456] -synonym: "diffuse cutaneous mastocytosis" EXACT [DOID:3665, MONDO:0002725, NCIT:C3218] +synonym: "diffuse cutaneous mastocytosis" EXACT [DOID:3665, icd11.foundation:193128939, MONDO:0002725, NCIT:C3218, Orphanet:79456] xref: DOID:3665 {source="MONDO:equivalentTo"} xref: GARD:12686 {source="MONDO:GARD"} xref: ICD10CM:Q82.2 {source="Orphanet:79456/ntbt", source="Orphanet:79456"} @@ -437030,8 +437117,8 @@ subset: rare synonym: "Paucicellular mastocytosis" RELATED [GARD:0013079] synonym: "telangiectasia macularis eruptive perstans" RELATED [GARD:0013079] synonym: "telangiectatic cutaneous mastocytosis" RELATED [GARD:0013079] -synonym: "UP/MPCM" EXACT [DOID:12309, NCIT:C3433] -synonym: "urticaria pigmentosa" EXACT [MONDO:0001489, Orphanet:79457] +synonym: "UP/MPCM" EXACT ABBREVIATION [DOID:12309, NCIT:C3433] +synonym: "urticaria pigmentosa" EXACT [DOID:12309, icd11.foundation:245322245, MONDO:0001489, NCIT:C3433, Orphanet:79457] synonym: "urticaria pigmentosa/maculopapular cutaneous mastocytosis" EXACT [NCIT:C3433] xref: DOID:12309 {source="MONDO:equivalentTo"} xref: EFO:1001229 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -437168,7 +437255,7 @@ subset: orphanet_rare {source="Orphanet:79480"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "seborrheic pemphigus" EXACT [Orphanet:79480] -synonym: "Senear-Usher syndrome" EXACT [Orphanet:79480] +synonym: "Senear-Usher syndrome" EXACT [ICD10CM:L10.4, icd11.foundation:399813106, Orphanet:79480] xref: EFO:0008603 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19022 {source="MONDO:GARD"} xref: ICD10CM:L10.4 {source="MONDO:equivalentTo", source="Orphanet:79480", source="Orphanet:79480/ntbt"} @@ -437244,7 +437331,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79484"} subset: rare synonym: "phakomatosis caesiomarmorata" EXACT [] -synonym: "phakomatosis cesiomarmorata" EXACT [] +synonym: "phakomatosis cesiomarmorata" EXACT [Orphanet:79484] synonym: "phakomatosis pigmentovascularis type 5" EXACT [Orphanet:79484] xref: GARD:19024 {source="MONDO:GARD"} xref: ICD10CM:Q85.8 {source="Orphanet:79484/attributed", source="Orphanet:79484/ntbt", source="Orphanet:79484"} @@ -437262,7 +437349,7 @@ subset: gard_rare {source="GARD:19025", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79485"} subset: rare -synonym: "phakomatosis pigmentovascularis type 3" EXACT [Orphanet:79485] +synonym: "phakomatosis pigmentovascularis type 3" EXACT [icd11.foundation:1064958823, Orphanet:79485] xref: GARD:19025 {source="MONDO:GARD"} xref: ICD10CM:Q85.8 {source="Orphanet:79485", source="Orphanet:79485/attributed", source="Orphanet:79485/ntbt"} xref: icd11.foundation:1064958823 {source="MONDO:equivalentTo"} @@ -437283,9 +437370,9 @@ subset: ordo_disorder {source="Orphanet:79489"} subset: ordo_malformation_syndrome {source="Orphanet:79489"} subset: orphanet_rare {source="Orphanet:79489"} subset: rare -synonym: "cavernous lymphangioma" EXACT [Orphanet:79489] -synonym: "cavernous lymphatic malformation" EXACT [Orphanet:79489] -synonym: "macrocystic lymphangioma" EXACT [Orphanet:79489] +synonym: "cavernous lymphangioma" EXACT [icd11.foundation:1525487462, NCIT:C53316, Orphanet:79489] +synonym: "cavernous lymphatic malformation" EXACT [icd11.foundation:1525487462, Orphanet:79489] +synonym: "macrocystic lymphangioma" EXACT [icd11.foundation:1525487462, Orphanet:79489] xref: GARD:6010 {source="MONDO:GARD"} xref: ICD10CM:D18.1 {source="Orphanet:79489/ntbt", source="Orphanet:79489"} xref: icd11.foundation:1525487462 {source="MONDO:equivalentTo", source="Orphanet:79489"} @@ -437308,12 +437395,12 @@ subset: ordo_disorder {source="Orphanet:79490"} subset: ordo_malformation_syndrome {source="Orphanet:79490"} subset: orphanet_rare {source="Orphanet:79490"} subset: rare -synonym: "capillary lymphangioma" RELATED [Orphanet:79490] -synonym: "capillary lymphatic malformation" EXACT [Orphanet:79490] +synonym: "capillary lymphangioma" RELATED [] +synonym: "capillary lymphatic malformation" EXACT [icd11.foundation:1796778763, Orphanet:79490] synonym: "cutaneous lymphangioma circumscriptum" EXACT [Orphanet:79490] -synonym: "microcystic infiltrating lymphatic malformation" EXACT [Orphanet:79490] -synonym: "microcystic lymphangioma" EXACT [Orphanet:79490] -synonym: "superficial lymphangioma" EXACT [Orphanet:79490] +synonym: "microcystic infiltrating lymphatic malformation" EXACT [icd11.foundation:1796778763, Orphanet:79490] +synonym: "microcystic lymphangioma" EXACT [icd11.foundation:1796778763, Orphanet:79490] +synonym: "superficial lymphangioma" EXACT [icd11.foundation:1796778763, Orphanet:79490] synonym: "superficial lymphatic malformation" EXACT [Orphanet:79490] xref: GARD:13020 {source="MONDO:GARD"} xref: ICD10CM:D18.1 {source="Orphanet:79490/ntbt", source="Orphanet:79490"} @@ -437449,7 +437536,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79665"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Gardner syndrome" EXACT [NCIT:C6728] +synonym: "Gardner syndrome" EXACT [icd11.foundation:1428130769, NCIT:C6728, Orphanet:79665] synonym: "Gardner's syndrome" EXACT [NCIT:C6728] synonym: "intestinal polyposis, osteomas, sebaceous cysts" RELATED [GARD:0006482] synonym: "polyposis coli and multiple hard and soft tissue tumors" RELATED [GARD:0006482] @@ -437509,17 +437596,17 @@ subset: orphanet_rare {source="Orphanet:797"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign lymphogranulomatosis of Schaumann" RELATED [] -synonym: "Besnier-Boeck-Schaumann disease" EXACT [Orphanet:797] +synonym: "Besnier-Boeck-Schaumann disease" EXACT [icd11.foundation:330792642, Orphanet:797] synonym: "besnier-Boeck-Schaumann syndrome" EXACT [] synonym: "Boeck sarcoid" EXACT [DOID:11335, Orphanet:797] -synonym: "Boeck's sarcoid" EXACT [Orphanet:797] +synonym: "Boeck's sarcoid" EXACT [icd11.foundation:330792642] synonym: "Boeck's sarcoidosis" EXACT [] synonym: "Darier-Roussy sarcoid" EXACT [] synonym: "lupus pernio of Besnier" RELATED [] synonym: "lymphogranulomatosis" EXACT [DOID:11335] synonym: "miliary lupoid of boeck" RELATED [] synonym: "sarcoid" EXACT [NCIT:C34995] -synonym: "sarcoidosis" EXACT [] +synonym: "sarcoidosis" EXACT [DOID:11335, icd11.foundation:330792642, NCIT:C34995, Orphanet:797] xref: DOID:11335 {source="MONDO:equivalentTo"} xref: GARD:7607 {source="MONDO:GARD"} xref: ICD10CM:D80-D89 {source="DOID:11335"} @@ -437568,14 +437655,14 @@ subset: orphanet_rare {source="Orphanet:8"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "47, XYY syndrome" RELATED [GARD:0005674] -synonym: "47,XYY" EXACT [NCIT:C85237] -synonym: "47,XYY syndrome" EXACT [NCIT:C85237] -synonym: "disomy Y" EXACT [Orphanet:8] -synonym: "Double Y" EXACT [Orphanet:8] +synonym: "47,XYY" EXACT ABBREVIATION [NCIT:C85237] +synonym: "47,XYY syndrome" EXACT [NCIT:C85237, Orphanet:8] +synonym: "disomy Y" EXACT [] +synonym: "Double Y" EXACT [] synonym: "Double Y syndrome" EXACT [Orphanet:8] -synonym: "XYY karyotype" EXACT [NCIT:C85237] -synonym: "XYY Syndrome" EXACT [NORD:1871] -synonym: "XYY syndrome" EXACT [NCIT:C85237] +synonym: "XYY karyotype" EXACT [] +synonym: "XYY Syndrome" EXACT [NCIT:C85237, NORD:1871, Orphanet:8] +synonym: "XYY syndrome" EXACT [NCIT:C85237, Orphanet:8] synonym: "Y disomy" EXACT [Orphanet:8] synonym: "YY syndrome" RELATED [GARD:0005674] xref: GARD:5674 {source="MONDO:GARD"} @@ -437604,7 +437691,7 @@ subset: ordo_group_of_disorders {source="Orphanet:801"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dermatosclerosis" EXACT [DOID:419] -synonym: "scleroderma" EXACT [MONDO:0002906, MONDO:ambiguous, NCIT:C26746] +synonym: "scleroderma" EXACT [DOID:419, MONDO:0002906, MONDO:ambiguous, NCIT:C26746, Orphanet:801] synonym: "scleroderma (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:419 {source="MONDO:equivalentTo"} xref: EFO:1001993 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -437651,9 +437738,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:808"} subset: orphanet_rare {source="Orphanet:808"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bird-headed dwarfism" EXACT [DOID:0050569] +synonym: "bird-headed dwarfism" EXACT [DOID:0050569, NCIT:C125488] synonym: "Harper's syndrome" EXACT [DOID:0050569] -synonym: "microcephalic primordial dwarfism" RELATED EXCLUDE [DOID:0050569] +synonym: "microcephalic primordial dwarfism" RELATED EXCLUDE [] synonym: "nanocephalic Dwarfism" EXACT [NCIT:C125488] synonym: "SCKL" EXACT ABBREVIATION [NCIT:C125488] synonym: "Seckel-type Dwarfism" EXACT [NCIT:C125488] @@ -437723,12 +437810,12 @@ subset: rare synonym: "bacillary dysentery" EXACT [DOID:12385] synonym: "flexner's dysentery" RELATED [] synonym: "japanese dysentery" RELATED [] -synonym: "Shigella boydii infectious disease" NARROW [DOID:12385] +synonym: "Shigella boydii infectious disease" NARROW [] synonym: "Shigella dysentery" RELATED [] -synonym: "Shigella flexneri infectious disease" NARROW [DOID:12385] +synonym: "Shigella flexneri infectious disease" NARROW [] synonym: "Shigella gastroenteritis" EXACT [DOID:12385] -synonym: "Shigella sonnei infectious disease" NARROW [DOID:12385] -synonym: "shigellosis" EXACT [] +synonym: "Shigella sonnei infectious disease" NARROW [] +synonym: "shigellosis" EXACT [DOID:12385, ICD10CM:A03, icd11.foundation:2080365623, NCIT:C157978, Orphanet:810] xref: DOID:12385 {source="EFO:0005585", source="MONDO:equivalentTo"} xref: EFO:0005585 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:4818 {source="MONDO:GARD"} @@ -437788,9 +437875,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cherry red spot myoclonus syndrome" RELATED [GARD:0007639] synonym: "cherry-red spot-myoclonus syndrome" EXACT [Orphanet:812] -synonym: "lipomucopolysaccharidosis" EXACT [Orphanet:812] +synonym: "lipomucopolysaccharidosis" EXACT [icd11.foundation:1154773192, Orphanet:812] synonym: "myoclonus cherry red spot syndrome" RELATED [GARD:0007639] -synonym: "Normomorphic sialidosis" EXACT [Orphanet:812] +synonym: "Normomorphic sialidosis" EXACT [icd11.foundation:1154773192, Orphanet:812] synonym: "normosomatic sialidosis" EXACT [] synonym: "sialidosis type I" RELATED [GARD:0007639] xref: GARD:7639 {source="MONDO:GARD"} @@ -437818,12 +437905,12 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1562"} subset: ordo_group_of_disorders {source="Orphanet:817"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deciduous skin" EXACT [Orphanet:817] +synonym: "deciduous skin" EXACT [DOID:0060283, Orphanet:817] synonym: "familial continuous skin peeling" RELATED [GARD:0007347] -synonym: "familial continuous skin peeling syndrome" EXACT [Orphanet:817] +synonym: "familial continuous skin peeling syndrome" EXACT [DOID:0060283, Orphanet:817] synonym: "idiopathic deciduous skin" EXACT [Orphanet:817] -synonym: "keratosis exfoliativa congenita" EXACT [Orphanet:817] -synonym: "peeling skin disease" EXACT [Orphanet:817] +synonym: "keratosis exfoliativa congenita" EXACT [DOID:0060283, Orphanet:817] +synonym: "peeling skin disease" EXACT [DOID:0060283, Orphanet:817] synonym: "PSS" EXACT ABBREVIATION [Orphanet:817] synonym: "skin peeling syndrome" RELATED [GARD:0007347] xref: DOID:0060283 {source="MONDO:equivalentTo"} @@ -437848,7 +437935,7 @@ id: MONDO:0019348 name: obsolete Ehlers-Danlos syndrome with periventricular heterotopia def: "OBSOLETE. Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva." [Orphanet:82004] comment: Obsolete in Orphanet -synonym: "EDS with periventricular heterotopia" EXACT [Orphanet:82004] +synonym: "EDS with periventricular heterotopia" EXACT [] xref: ICD10CM:Q79.6 {source="Orphanet:82004", source="Orphanet:82004/attributed", source="Orphanet:82004/ntbt"} xref: OMIM:300537 {source="Orphanet:82004", source="Orphanet:82004/e", source="MONDO:obsoleteEquivalentObsolete"} xref: Orphanet:82004 {source="MONDO:obsoleteEquivalentObsolete"} @@ -437872,12 +437959,12 @@ synonym: "cerebral gigantism syndrome" EXACT [NCIT:C75019] synonym: "chromosome 5q35 deletion syndrome" EXACT [OMIM:117550] synonym: "distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development" RELATED [GARD:0010091] synonym: "NSD1 Sotos syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Sotos syndrome" EXACT CLINGEN_LABEL [] -synonym: "Sotos syndrome 1" EXACT DEPRECATED [MONDO:Lexical, OMIM:117550] +synonym: "Sotos syndrome" EXACT CLINGEN_LABEL [DOID:14748, icd11.foundation:1887392960, NCIT:C75019, OMIM:117550, Orphanet:821] +synonym: "Sotos syndrome 1" EXACT DEPRECATED [DOID:0112103, MONDO:Lexical] synonym: "Sotos syndrome caused by mutation in NSD1" EXACT [MONDO:design_pattern] -synonym: "Sotos syndrome type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:117550] +synonym: "Sotos syndrome type 1" EXACT DEPRECATED [MONDORULE:1] synonym: "Sotos' syndrome" EXACT [NCIT:C75019] -synonym: "SOTOS1" RELATED DEPRECATED [MONDO:Lexical, OMIM:117550] +synonym: "SOTOS1" RELATED DEPRECATED [MONDO:Lexical] xref: DECIPHER:17 {source="MONDO:equivalentTo"} xref: DOID:0112103 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:14748 {source="MONDO:equivalentTo"} @@ -437925,9 +438012,9 @@ subset: rare synonym: "congenital spherocytic hemolytic anaemia" EXACT OMO:0003005 [] synonym: "congenital spherocytic hemolytic anemia" EXACT [DOID:12971] synonym: "congenital spherocytosis" RELATED [GARD:0006639] -synonym: "hereditary spherocytosis" EXACT CLINGEN_LABEL [] +synonym: "hereditary spherocytosis" EXACT CLINGEN_LABEL [DOID:12971, ICD10CM:D58.0, icd11.foundation:1305248013, NCIT:C97074, Orphanet:822] synonym: "Minkowski Chauffard syndrome" EXACT [DOID:12971] -synonym: "Minkowski-Chauffard disease" EXACT [Orphanet:822] +synonym: "Minkowski-Chauffard disease" EXACT [icd11.foundation:1305248013, Orphanet:822] synonym: "spherocytic anaemia" EXACT OMO:0003005 [] synonym: "spherocytic anemia" EXACT [DOID:12971] xref: DOID:12971 {source="MONDO:equivalentTo"} @@ -437999,10 +438086,10 @@ subset: ordo_disorder {source="Orphanet:827"} subset: orphanet_rare {source="Orphanet:827"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fundus flavimaculatus" EXACT [Orphanet:827] +synonym: "fundus flavimaculatus" EXACT [icd11.foundation:1690038580, Orphanet:827] synonym: "juvenile onset macular degeneration" RELATED [GARD:0000181] synonym: "Stargardt 1" EXACT [Orphanet:827] -synonym: "Stargardt disease 1" NARROW [DOID:0050817] +synonym: "Stargardt disease 1" NARROW [] synonym: "Stargardt macular dystrophy" RELATED [GARD:0000181] xref: DOID:0050817 {source="MONDO:equivalentTo"} xref: GARD:181 {source="MONDO:GARD"} @@ -438034,7 +438121,7 @@ subset: orphanet_rare {source="Orphanet:828"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary progressive arthroophthalmopathy" EXACT [Orphanet:828] -synonym: "Stickler syndrome" EXACT CLINGEN_LABEL [] +synonym: "Stickler syndrome" EXACT CLINGEN_LABEL [DOID:0080046, icd11.foundation:246271691, NCIT:C74984, OMIMPS:108300, Orphanet:828] xref: DOID:0080046 {source="MONDO:equivalentTo"} xref: GARD:10782 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:828/attributed", source="Orphanet:828/ntbt", source="Orphanet:828"} @@ -438069,9 +438156,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adult onset Still's disease" EXACT [DOID:14256] synonym: "adult Still's disease" RELATED [GARD:0000436] -synonym: "adult-onset Still disease" EXACT [DOID:14256] -synonym: "Adult-Onset Still's Disease" EXACT [NORD:737] -synonym: "adult-onset Still's disease" EXACT [MONDO:0005637] +synonym: "adult-onset Still disease" EXACT [DOID:14256, icd11.foundation:549009522, Orphanet:829] +synonym: "Adult-Onset Still's Disease" EXACT [DOID:14256, NORD:737] +synonym: "adult-onset Still's disease" EXACT [DOID:14256, MONDO:0005637] synonym: "AOSD" EXACT ABBREVIATION [Orphanet:829] synonym: "Still's disease adult onset" RELATED [GARD:0000436] synonym: "Wissler-Fanconi syndrome" EXACT [Orphanet:829] @@ -438125,7 +438212,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:831"} subset: orphanet_rare {source="Orphanet:831"} subset: rare -synonym: "congenital cervical spinal stenosis" RELATED [Orphanet:831] +synonym: "congenital cervical spinal stenosis" RELATED [] synonym: "congenital stenosis of the cervical spine" EXACT [Orphanet:831] xref: GARD:18706 {source="MONDO:GARD"} xref: ICD10CM:Q06.8 {source="Orphanet:831/ntbt", source="Orphanet:831"} @@ -438175,7 +438262,7 @@ synonym: "Fiebre manchada" RELATED [DOID:0050052] synonym: "RMSF" RELATED ABBREVIATION [GARD:0007585] synonym: "sao Paulo typhus" RELATED [DOID:0050052] synonym: "So Paulo fever" RELATED [DOID:0050052] -synonym: "Tick typhus" RELATED [DOID:0050052] +synonym: "Tick typhus" RELATED [] synonym: "Tobia fever" RELATED [DOID:0050052] xref: DOID:0050052 {source="MONDO:equivalentTo"} xref: GARD:7585 {source="MONDO:GARD"} @@ -438205,7 +438292,7 @@ subset: ordo_disorder {source="Orphanet:83312"} subset: orphanet_rare {source="Orphanet:83312"} subset: rare synonym: "Rickettsia akari spotted fever" EXACT [DOID:11103] -synonym: "vesicular rickettsiosis" EXACT [DOID:11103] +synonym: "vesicular rickettsiosis" EXACT [DOID:11103, icd11.foundation:1005140361] xref: DOID:11103 {source="MONDO:equivalentTo"} xref: GARD:19030 {source="MONDO:GARD"} xref: ICD10CM:A79.1 {source="Orphanet:83312", source="Orphanet:83312/e", source="DOID:11103"} @@ -438237,9 +438324,9 @@ subset: ordo_disorder {source="Orphanet:83314"} subset: orphanet_rare {source="Orphanet:83314"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epidemic louse-borne typhus" EXACT [NCIT:C84689] -synonym: "epidemic typhus" EXACT [NCIT:C84689] -synonym: "epidemic typhus fever" EXACT [NCIT:C84689] +synonym: "epidemic louse-borne typhus" EXACT [icd11.foundation:295798687, NCIT:C84689] +synonym: "epidemic typhus" EXACT [DOID:0050480, icd11.foundation:295798687, NCIT:C84689, Orphanet:83314] +synonym: "epidemic typhus fever" EXACT [icd11.foundation:295798687, NCIT:C84689] synonym: "sylvatic typhus" EXACT [DOID:0050480] synonym: "typhus" BROAD [Wikipedia:Typhus] xref: DOID:0050480 {source="MONDO:equivalentTo"} @@ -438298,16 +438385,16 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chigger-borne rickettsiosis" RELATED [DOID:13371] synonym: "chigger-borne typhus" RELATED [DOID:13371] -synonym: "Japanese river fever" EXACT [DOID:13371] -synonym: "Kedani fever" EXACT [DOID:13371] +synonym: "Japanese river fever" EXACT [DOID:13371, icd11.foundation:1695340384] +synonym: "Kedani fever" EXACT [DOID:13371, icd11.foundation:1695340384] synonym: "Mite-borne rickettsiosis" RELATED [DOID:13371] synonym: "Mite-borne typhus" RELATED [DOID:13371] synonym: "scrub (mite-borne) typhus" RELATED [DOID:13371] -synonym: "scrub mite-borne typhus" EXACT [DOID:13371] +synonym: "scrub mite-borne typhus" EXACT [DOID:13371, icd11.foundation:1695340384] synonym: "tropical typhus" RELATED [DOID:13371] -synonym: "tsutsugamushi" EXACT [DOID:13371] -synonym: "tsutsugamushi disease" EXACT [DOID:13371, Orphanet:83317] -synonym: "tsutsugamushi fever" EXACT [DOID:13371, Orphanet:83317] +synonym: "tsutsugamushi" EXACT [DOID:13371, icd11.foundation:1695340384] +synonym: "tsutsugamushi disease" EXACT [DOID:13371, icd11.foundation:1695340384, Orphanet:83317] +synonym: "tsutsugamushi fever" EXACT [icd11.foundation:1695340384, Orphanet:83317] synonym: "typhus fever due to Rickettsia tsutsugamushi" RELATED [DOID:13371] xref: DOID:13371 {source="MONDO:equivalentTo", source="EFO:0007480"} xref: EFO:0007480 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -438343,7 +438430,7 @@ subset: ordo_disorder {source="Orphanet:834"} subset: orphanet_rare {source="Orphanet:834"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "free sialic acid storage disease" EXACT CLINGEN_LABEL [] +synonym: "free sialic acid storage disease" EXACT CLINGEN_LABEL [icd11.foundation:1817428569, Orphanet:834] xref: GARD:10870 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:834/attributed", source="Orphanet:834/ntbt", source="Orphanet:834"} xref: icd11.foundation:1817428569 {source="MONDO:equivalentTo"} @@ -438486,12 +438573,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:83468"} subset: orphanet_rare {source="Orphanet:83468"} subset: rare -synonym: "bone cyst" EXACT [NCIT:C2904] -synonym: "cyst of bone" EXACT [NCIT:C2904] -synonym: "cyst of the bone" EXACT [NCIT:C2904] -synonym: "simple bone cyst" EXACT [NCIT:C2904] -synonym: "solitary cyst" EXACT [NCIT:C2904] -synonym: "unicameral bone cyst" EXACT [Orphanet:83468] +synonym: "bone cyst" EXACT [] +synonym: "cyst of bone" EXACT [icd11.foundation:987501456] +synonym: "cyst of the bone" EXACT [] +synonym: "simple bone cyst" EXACT [icd11.foundation:987501456, NCIT:C2904] +synonym: "solitary cyst" EXACT [] +synonym: "unicameral bone cyst" EXACT [icd11.foundation:987501456, NCIT:C2904, Orphanet:83468] xref: GARD:19039 {source="MONDO:GARD"} xref: ICD10CM:M85.4 {source="MONDO:equivalentTo", source="Orphanet:83468", source="Orphanet:83468/e"} xref: icd11.foundation:987501456 {source="MONDO:equivalentTo", source="Orphanet:83468"} @@ -438514,12 +438601,12 @@ subset: ordo_disorder {source="Orphanet:83469"} subset: orphanet_rare {source="Orphanet:83469"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Desmoplas. small round cell tumor" EXACT [NCIT:C8300] +synonym: "Desmoplas. small round cell tumor" EXACT [] synonym: "Desmoplas. small round cell tumour" EXACT OMO:0003005 [] -synonym: "Desmoplastic small round cell tumor" EXACT [NCIT:C8300] -synonym: "desmoplastic small round cell tumor" EXACT [NCIT:C8300] +synonym: "Desmoplastic small round cell tumor" EXACT [DOID:6785, NCIT:C8300, Orphanet:83469] +synonym: "desmoplastic small round cell tumor" EXACT [DOID:6785, NCIT:C8300, Orphanet:83469] synonym: "Desmoplastic small round cell tumour" EXACT OMO:0003005 [] -synonym: "Desmoplastic small round-cell neoplasm" EXACT [NCIT:C8300] +synonym: "Desmoplastic small round-cell neoplasm" EXACT [DOID:6785, NCIT:C8300] synonym: "Desmoplastic small round-cell tumor" EXACT [GARD:0006265, NCIT:C8300] synonym: "Desmoplastic small round-cell tumour" EXACT OMO:0003005 [] synonym: "desmoplastic small-round-cell tumor" RELATED [ONCOTREE:DSRCT] @@ -438585,7 +438672,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus" RELATED [GARD:0010341] synonym: "megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome" RELATED [GARD:0010341] -synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" RELATED [GARD:0010341, OMIMPS:603387] +synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome" RELATED [GARD:0010341] synonym: "MPPH syndrome" EXACT [Orphanet:83473] xref: GARD:10341 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:83473", source="Orphanet:83473/attributed", source="Orphanet:83473/ntbt"} @@ -438610,8 +438697,8 @@ subset: ordo_disorder {source="Orphanet:83476"} subset: orphanet_rare {source="Orphanet:83476"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "West Nile Encephalitis" EXACT [NORD:1847] -synonym: "West Nile encephalitis" EXACT [MONDO:0006016] +synonym: "West Nile Encephalitis" EXACT [DOID:2365, NORD:1847] +synonym: "West Nile encephalitis" EXACT [DOID:2365, MONDO:0006016] synonym: "West Nile fever encephalitis" EXACT [DOID:2365] synonym: "West Nile fever with encephalitis" EXACT [DOID:2365, ICD9CM:066.41] synonym: "West Nile virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] @@ -438716,7 +438803,7 @@ subset: rare synonym: "WEE" RELATED ABBREVIATION [DOID:10843] synonym: "Western equine encephalitis virus caused infectious encephalitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Western equine encephalitis virus infectious encephalitis" EXACT [] -synonym: "Western equine encephalomyelitis" EXACT [Orphanet:83593] +synonym: "Western equine encephalomyelitis" EXACT [icd11.foundation:1543765035, NCIT:C85227, Orphanet:83593] xref: DOID:10843 {source="EFO:0007546", source="MONDO:equivalentTo"} xref: EFO:0007546 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7888 {source="MONDO:GARD"} @@ -438762,9 +438849,9 @@ subset: orphanet_rare {source="Orphanet:83597"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute disseminated encephalitis" EXACT [DOID:639, Orphanet:83597] -synonym: "acute disseminated encephalomyelitis" EXACT [DOID:639, NCIT:C34578] +synonym: "acute disseminated encephalomyelitis" EXACT [DOID:639, icd11.foundation:1390433308, NCIT:C34578, Orphanet:83597] synonym: "ADE" RELATED ABBREVIATION [GARD:0008639] -synonym: "ADEM" EXACT ABBREVIATION [DOID:639, ICD9:323.61, Orphanet:83597] +synonym: "ADEM" EXACT ABBREVIATION [DOID:639, ICD9:323.61, NCIT:C34578, Orphanet:83597] synonym: "post-infectious encephalomyelitis" EXACT [PMID:28613684] xref: DOID:639 {source="MONDO:equivalentTo", source="EFO:0007130"} xref: EFO:0007130 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -438797,12 +438884,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:83600"} subset: orphanet_rare {source="Orphanet:83600"} subset: rare -synonym: "encephalitis lethargica" EXACT [DOID:5225] +synonym: "encephalitis lethargica" EXACT [DOID:5225, icd11.foundation:1777779617, NCIT:C26761, Orphanet:83600] synonym: "epidemic encephalitis" EXACT [NCIT:C34576] synonym: "lethargic encephalitis" EXACT [http://www.dictionary.com/browse/epidemic-encephalitis] synonym: "von Economo disease" EXACT [DOID:5225] -synonym: "Von Economo encephalitis" EXACT [Orphanet:83600] -synonym: "von Economo's disease" EXACT [MONDO:0003338] +synonym: "Von Economo encephalitis" EXACT [icd11.foundation:1777779617, Orphanet:83600] +synonym: "von Economo's disease" EXACT [DOID:5225, icd11.foundation:1777779617, MONDO:0003338] synonym: "Von Economo’s disease" RELATED [GARD:0006332] xref: DOID:5225 {source="MONDO:equivalentTo"} xref: GARD:6332 {source="MONDO:GARD"} @@ -438834,7 +438921,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:83601"} subset: orphanet_rare {source="Orphanet:83601"} subset: rare -synonym: "Hashimoto encephalitis" RELATED [Orphanet:83601] +synonym: "Hashimoto encephalitis" RELATED [] synonym: "Hashimoto's encephalitis" RELATED [GARD:0008570] synonym: "Hashimoto's encephalopathy" RELATED [GARD:0008570] synonym: "SREAT" EXACT ABBREVIATION [Orphanet:83601] @@ -438907,9 +438994,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome" EXACT [Orphanet:83628] synonym: "LUMBAR syndrome" EXACT [Orphanet:83628] -synonym: "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome" EXACT [Orphanet:83628] +synonym: "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome" EXACT [] synonym: "SACRAL syndrome" EXACT [Orphanet:83628] -synonym: "urorectal septum malformation sequence" EXACT [Orphanet:83628] +synonym: "urorectal septum malformation sequence" EXACT [] xref: GARD:19045 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:83628/attributed", source="Orphanet:83628/ntbt", source="Orphanet:83628"} xref: icd11.foundation:1311821224 {source="MONDO:equivalentTo"} @@ -438942,12 +439029,12 @@ subset: ordo_disorder {source="Orphanet:838"} subset: orphanet_rare {source="Orphanet:838"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "RED-M" EXACT [Orphanet:838] -synonym: "Retinocochleocerebral vasculopathy" EXACT [Orphanet:838] -synonym: "retinopathy-encephalopathy-deafness associated with microangiopathy" EXACT [Orphanet:838] +synonym: "RED-M" EXACT [] +synonym: "Retinocochleocerebral vasculopathy" EXACT [icd11.foundation:1292480458, Orphanet:838] +synonym: "retinopathy-encephalopathy-deafness associated with microangiopathy" EXACT [] synonym: "SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome" RELATED [GARD:0007713] -synonym: "SICRET syndrome" EXACT [Orphanet:838] -synonym: "small infarctions of cochlear, retinal and encephalic tissue" EXACT [Orphanet:838] +synonym: "SICRET syndrome" EXACT [] +synonym: "small infarctions of cochlear, retinal and encephalic tissue" EXACT [icd11.foundation:1292480458] xref: EFO:1001856 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7713 {source="MONDO:GARD"} xref: ICD10CM:I67.7 {source="Orphanet:838", source="Orphanet:838/ntbt"} @@ -438977,11 +439064,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:84"} subset: orphanet_rare {source="Orphanet:84"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fanconi anemia" EXACT CLINGEN_LABEL [] +synonym: "Fanconi anemia" EXACT CLINGEN_LABEL [DOID:13636, NCIT:C62505, OMIMPS:227650, Orphanet:84] synonym: "Fanconi pancytopenia" EXACT [DOID:13636, Orphanet:84] synonym: "Fanconi panmyelopathy" EXACT [DOID:13636] -synonym: "Fanconi's anaemia" EXACT OMO:0003005 [] -synonym: "Fanconi's anemia" EXACT [DOID:13636] +synonym: "Fanconi's anaemia" EXACT OMO:0003005 [DOID:13636] +synonym: "Fanconi's anemia" EXACT [DOID:13636, NCIT:C62505] synonym: "pancytopenia, congenital" EXACT [NCIT:C62505] synonym: "Panmyelopathy, Fanconi" EXACT [NCIT:C62505] synonym: "primary erythroid hypoplasia" EXACT [NCIT:C62505] @@ -439028,14 +439115,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fistulous vegetative verrucous hydradenoma" EXACT [Orphanet:840] synonym: "naevus syringocystadenomatosus papilliferus" EXACT [Orphanet:840] -synonym: "papillary Syringadenoma" EXACT [NCIT:C4172] -synonym: "papillary syringadenoma (morphologic abnormality)" EXACT [DOID:5445] -synonym: "papillary Syringadenoma (syringocystadenoma papilliferum)" EXACT [DOID:5445, NCIT:C4172] -synonym: "papillary syringocystadenoma" EXACT [NCIT:C4172] -synonym: "SCAP" EXACT ABBREVIATION [Orphanet:840] +synonym: "papillary Syringadenoma" EXACT [DOID:5445, NCIT:C4172] +synonym: "papillary syringadenoma (morphologic abnormality)" EXACT [] +synonym: "papillary Syringadenoma (syringocystadenoma papilliferum)" EXACT [] +synonym: "papillary syringocystadenoma" EXACT [NCIT:C4172, Orphanet:840] +synonym: "SCAP" EXACT ABBREVIATION [NCIT:C4172, Orphanet:840] synonym: "Syringadenoma" EXACT [NCIT:C4172] synonym: "Syringadenoma papilliferum" EXACT [Orphanet:840] -synonym: "syringocystadenoma papilliferum" EXACT [MONDO:0006439, NCIT:C4172] +synonym: "syringocystadenoma papilliferum" EXACT [DOID:5445, icd11.foundation:530424877, MONDO:0006439, NCIT:C4172, Orphanet:840] xref: DOID:5445 {source="MONDO:equivalentTo"} xref: EFO:1000558 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5100 {source="MONDO:GARD"} @@ -439179,14 +439266,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:84142"} subset: orphanet_rare {source="Orphanet:84142"} subset: rare -synonym: "acquired neuromyotonia" EXACT [Orphanet:84142] +synonym: "acquired neuromyotonia" EXACT [] synonym: "continuous muscle fiber activity syndrome" EXACT [Orphanet:84142] synonym: "continuous muscle fibre activity syndrome" EXACT OMO:0003005 [] synonym: "Isaac's-Merten's syndrome" RELATED [GARD:0006793] -synonym: "Isaac-Mertens syndrome" EXACT [Orphanet:84142] +synonym: "Isaac-Mertens syndrome" EXACT [] synonym: "Isaacs' syndrome" RELATED [GARD:0006793] synonym: "neuromyotonia" RELATED [GARD:0006793] -synonym: "peripheral nerve hyperexcitability" EXACT [Orphanet:84142] +synonym: "peripheral nerve hyperexcitability" EXACT [] synonym: "Quantal squander syndrome" EXACT [Orphanet:84142] xref: GARD:6793 {source="MONDO:GARD"} xref: ICD10CM:G71.1 {source="Orphanet:84142/ntbt", source="Orphanet:84142"} @@ -439212,7 +439299,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_clinical_syndrome {source="Orphanet:84271"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "sporadic idiopathic nephrosis" EXACT [Orphanet:84271] +synonym: "sporadic idiopathic nephrosis" EXACT [] xref: ICD10CM:N04.1 {source="Orphanet:84271/attributed", source="Orphanet:84271/btnt", source="Orphanet:84271"} xref: ICD10CM:N04.3 {source="Orphanet:84271/attributed", source="Orphanet:84271/btnt", source="Orphanet:84271"} xref: ICD10CM:N04.8 {source="Orphanet:84271/attributed", source="Orphanet:84271/btnt", source="Orphanet:84271"} @@ -439237,7 +439324,7 @@ synonym: "Beta thalassemia intermedia" RELATED [GARD:0000871] synonym: "Beta thalassemia minor" RELATED [GARD:0000871] synonym: "erythroblastic anaemia" RELATED OMO:0003005 [] synonym: "erythroblastic anemia" RELATED [GARD:0000871] -synonym: "thalassemia major" RELATED [NCIT:C34375] +synonym: "thalassemia major" RELATED [] synonym: "thalassemia, Hispanic gamma-delta-beta" RELATED [GARD:0000871] synonym: "Thalassemias, beta-" RELATED [GARD:0000871] xref: DOID:12241 {source="MONDO:equivalentTo"} @@ -439276,8 +439363,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anemia, congenital dyserythropoietic" EXACT [OMIMPS:224120] synonym: "CDA" EXACT ABBREVIATION [Orphanet:85] -synonym: "congenital dyshaematopoietic anaemia" EXACT OMO:0003005 [] -synonym: "congenital dyshaematopoietic anemia" EXACT [DOID:1338] +synonym: "congenital dyshaematopoietic anaemia" EXACT OMO:0003005 [DOID:1338, icd11.foundation:899830967] +synonym: "congenital dyshaematopoietic anemia" EXACT [] synonym: "dyserythropoietic anemia, congenital" RELATED [GARD:0001999] xref: DOID:1338 {source="MONDO:equivalentTo"} xref: GARD:1999 {source="MONDO:GARD"} @@ -439309,8 +439396,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:85102"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "perineurioma" EXACT [NCIT:C4973] -synonym: "soft tissue perineurioma" RELATED [DOID:4697, NCIT:C6912] +synonym: "perineurioma" EXACT [DOID:4697, icd11.foundation:456459236, NCIT:C4973, Orphanet:85102] +synonym: "soft tissue perineurioma" RELATED [] xref: DOID:4697 {source="MONDO:equivalentTo"} xref: GARD:12698 {source="MONDO:GARD"} xref: ICD10CM:C47.9 {source="Orphanet:85102/ntbt", source="Orphanet:85102"} @@ -439379,8 +439466,8 @@ subset: orphanet_rare {source="Orphanet:85172"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "microcephalic osteodysplastic dysplasia" EXACT [OMIM:618150] -synonym: "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT [DOID:0111673] -synonym: "Saul-Wilson syndrome" EXACT [MONDO:0029146, OMIM:618150] +synonym: "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT [DOID:0111673, icd11.foundation:738688839, Orphanet:85172] +synonym: "Saul-Wilson syndrome" EXACT [DOID:0111673, MONDO:0029146, OMIM:618150] synonym: "SWILS" EXACT ABBREVIATION [DOID:0111673, OMIM:618150] xref: DOID:0111673 {source="MONDO:equivalentTo"} xref: GARD:16736 {source="MONDO:GARD"} @@ -439431,11 +439518,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:85193"} subset: orphanet_rare {source="Orphanet:85193"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "idiopathic juvenile osteoporosis" EXACT [OMIM:259750] +synonym: "idiopathic juvenile osteoporosis" EXACT [DOID:12559, icd11.foundation:183642011, NCIT:C119996, OMIM:259750, Orphanet:85193] synonym: "idiopathic osteoporosis" EXACT [DOID:12559] -synonym: "Ijo" EXACT [Orphanet:85193] +synonym: "IJO" EXACT ABBREVIATION [Orphanet:85193] +synonym: "Ijo" EXACT [] synonym: "juvenile osteoporosis" EXACT [DOID:12559, Orphanet:85193] -synonym: "osteoporosis, juvenile" RELATED [OMIM:259750] +synonym: "osteoporosis, juvenile" RELATED [] synonym: "Paediatric osteoporosis" EXACT OMO:0003005 [] synonym: "Pediatric osteoporosis" EXACT [NCIT:C119996] xref: DOID:12559 {source="MONDO:equivalentTo"} @@ -439514,8 +439602,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_malformation_syndrome {source="Orphanet:85200"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ischio-spinal dysostosis" EXACT [Orphanet:85200] -synonym: "ischio-vertebral dysplasia" EXACT [Orphanet:85200] +synonym: "ischio-spinal dysostosis" EXACT [] +synonym: "ischio-vertebral dysplasia" EXACT [] xref: GARD:19052 {source="MONDO:GARD"} xref: ICD10CM:Q77.8 {source="Orphanet:85200", source="Orphanet:85200/attributed", source="Orphanet:85200/ntbt"} xref: icd11.foundation:185911418 {source="MONDO:equivalentTo"} @@ -439872,8 +439960,8 @@ subset: orphanet_rare {source="Orphanet:85408"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "juvenile rheumatoid factor-negative polyarthritis" EXACT [Orphanet:85408] -synonym: "polyarthritis without rheumatoid factor" EXACT [Orphanet:85408] -synonym: "rheumatoid factor-negative JIA" EXACT [Orphanet:85408] +synonym: "polyarthritis without rheumatoid factor" EXACT [] +synonym: "rheumatoid factor-negative JIA" EXACT [] xref: EFO:1002020 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:3931 {source="MONDO:GARD"} xref: ICD10CM:M08.3 {source="Orphanet:85408", source="Orphanet:85408/ntbt"} @@ -439892,7 +439980,7 @@ subset: ordo_disorder {source="Orphanet:85410"} subset: orphanet_rare {source="Orphanet:85410"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Oligoarticular JIA" EXACT [Orphanet:85410] +synonym: "Oligoarticular JIA" EXACT [NCIT:C119032, Orphanet:85410] synonym: "Pauciarticular chronic arthritis" EXACT [Orphanet:85410] synonym: "Pauciarticular JIA" EXACT [NCIT:C119032] synonym: "Pauciarticular juvenile idiopathic arthritis" EXACT [NCIT:C119032] @@ -439921,12 +440009,12 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "sJIA" EXACT [NCIT:C119031] synonym: "SoJIA" EXACT [PMID:23827249] -synonym: "Still disease" EXACT [Orphanet:85414] +synonym: "Still disease" EXACT [icd11.foundation:504387587, Orphanet:85414] synonym: "Still's disease (formerly)" RELATED [GARD:0010966] synonym: "systemic juvenile idiopathic arthritis" RELATED [GARD:0010966] synonym: "systemic onset juvenile idiopathic arthritis" RELATED [GARD:0010966] synonym: "systemic onset juvenile rheumatoid arthritis" RELATED [GARD:0010966] -synonym: "systemic polyarthritis" EXACT [Orphanet:85414] +synonym: "systemic polyarthritis" EXACT [] synonym: "systemic-onset JIA" EXACT [Orphanet:85414] xref: EFO:1001999 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10966 {source="MONDO:GARD"} @@ -439955,7 +440043,7 @@ subset: orphanet_rare {source="Orphanet:85435"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "juvenile idiopathic rheumatoid factor-positive polyarthritis" EXACT [Orphanet:85435] -synonym: "polyarthritis with rheumatoid factor" EXACT [Orphanet:85435] +synonym: "polyarthritis with rheumatoid factor" EXACT [] synonym: "polyarticular JIA, RF+" EXACT [NCIT:C119034] synonym: "polyarticular juvenile idiopathic arthritis, RF+" EXACT [NCIT:C119034] synonym: "polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive" EXACT [NCIT:C119034] @@ -439981,7 +440069,7 @@ subset: orphanet_rare {source="Orphanet:85436"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "JPsA" EXACT [NCIT:C114361] -synonym: "juvenile psoriatic arthritis" EXACT [Orphanet:85436] +synonym: "juvenile psoriatic arthritis" EXACT [icd11.foundation:1473955563, NCIT:C114361, Orphanet:85436] synonym: "psoriasis-related JIA" EXACT [Orphanet:85436] xref: EFO:0009733 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10970 {source="MONDO:GARD"} @@ -440009,8 +440097,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "enthesitis related arthritis, juvenile" RELATED [GARD:0010969] synonym: "enthesitis-related arthritis" RELATED [GARD:0010969] -synonym: "enthesitis-related JIA" EXACT [Orphanet:85438] -synonym: "era" EXACT [Orphanet:85438] +synonym: "enthesitis-related JIA" EXACT [NCIT:C119024, Orphanet:85438] +synonym: "ERA" EXACT ABBREVIATION [NCIT:C119024] +synonym: "era" EXACT [] synonym: "juvenile enthesitis-related arthritis" RELATED [GARD:0010969] synonym: "juvenile spondylarthropathy" RELATED [GARD:0010969] xref: EFO:0009732 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -440043,7 +440132,7 @@ synonym: "amyloidosis primary systemic" RELATED [GARD:0005797] synonym: "Light chain amyloidosis" RELATED [GARD:0005797] synonym: "Light-chain amyloidosis" EXACT [Orphanet:85443] synonym: "primary AL amyloidosis" RELATED [GARD:0005797] -synonym: "primary amyloidosis" EXACT [Orphanet:85443] +synonym: "primary amyloidosis" EXACT [icd11.foundation:1061366491] synonym: "primary systemic AL amyloidosis" RELATED [GARD:0005797] synonym: "primary systemic amyloidosis" RELATED [GARD:0005797] synonym: "systemic AL amyloidsis" RELATED [GARD:0005797] @@ -440080,7 +440169,7 @@ synonym: "amyloid A amyloidosis" RELATED [GARD:0010560] synonym: "amyloidosis AA" RELATED [GARD:0010560] synonym: "inflammatory amyloidosis" EXACT [Orphanet:85445] synonym: "reactive amyloidosis" EXACT [Orphanet:85445] -synonym: "secondary amyloidosis" EXACT [Orphanet:85445] +synonym: "secondary amyloidosis" EXACT [DOID:0080936, icd11.foundation:570181034, NCIT:C3818] xref: DOID:0080936 {source="MONDO:equivalentTo"} xref: GARD:10560 {source="MONDO:GARD"} xref: ICD10CM:E85.3 {source="Orphanet:85445", source="Orphanet:85445/e"} @@ -440165,9 +440254,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:860"} subset: orphanet_rare {source="Orphanet:860"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenitally uncorrected transposition of the great arteries" EXACT [DOID:0060770] +synonym: "congenitally uncorrected transposition of the great arteries" EXACT [DOID:0060770, Orphanet:860] synonym: "congenitally uncorrected transposition of the great vessels" EXACT [DOID:0060770, Orphanet:860] -synonym: "D-TGA" EXACT [DOID:0060770] +synonym: "D-TGA" EXACT ABBREVIATION [DOID:0060770] synonym: "DTGA" EXACT ABBREVIATION [MONDO:Lexical] synonym: "isolated ventriculoarterial discordance" EXACT [DOID:0060770, Orphanet:860] synonym: "ventriculoarterial discordance with atrioventricular concordance" EXACT [DOID:0060770, Orphanet:860] @@ -440199,9 +440288,9 @@ synonym: "infection with Trichinella" RELATED [GARD:0005250] synonym: "Trichinella caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trichinella disease or disorder" EXACT [] synonym: "Trichinella infectious disease" EXACT [] -synonym: "Trichinella spiralis infection" NARROW [DOID:9784] +synonym: "Trichinella spiralis infection" NARROW [] synonym: "trichiniasis" RELATED [GARD:0005250] -synonym: "trichinosis" EXACT [MONDO:0005992, Orphanet:863] +synonym: "trichinosis" EXACT [DOID:9784, icd11.foundation:284613639, MONDO:0005992, NCIT:C85199, Orphanet:863] xref: DOID:9784 {source="MONDO:equivalentTo", source="EFO:0007520"} xref: GARD:5250 {source="MONDO:GARD"} xref: ICD10CM:B75 {source="Orphanet:863", source="MONDO:equivalentTo", source="Orphanet:863/e", source="DOID:9784"} @@ -440257,7 +440346,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:7321", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:86795"} subset: rare -synonym: "papular mucinosis" EXACT [Orphanet:86795] +synonym: "papular mucinosis" EXACT [icd11.foundation:15830032, Orphanet:86795] xref: GARD:7321 {source="MONDO:GARD"} xref: ICD10CM:L98.5 {source="Orphanet:86795", source="Orphanet:86795/ntbt"} xref: icd11.foundation:15830032 {source="Orphanet:86795", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -440299,7 +440388,7 @@ subset: rare synonym: "ADCME" EXACT ABBREVIATION [Orphanet:86814] synonym: "autosomal dominant cortical myoclonus and epilepsy" EXACT [Orphanet:86814] synonym: "BAFME" EXACT ABBREVIATION [Orphanet:86814] -synonym: "benign adult familial myoclonus epilepsy" EXACT [Orphanet:86814] +synonym: "benign adult familial myoclonus epilepsy" EXACT [icd11.foundation:1036649329, Orphanet:86814] synonym: "FAME" EXACT ABBREVIATION [Orphanet:86814] synonym: "familial adult myoclonic epilepsy" EXACT [Orphanet:86814] synonym: "familial cortical myoclonic tremor and epilepsy" EXACT [Orphanet:86814] @@ -440365,7 +440454,7 @@ subset: ordo_disorder {source="Orphanet:86829"} subset: orphanet_rare {source="Orphanet:86829"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chronic neutrophilic leukemia" EXACT [NCIT:C3179] +synonym: "chronic neutrophilic leukemia" EXACT [DOID:0080187, NCIT:C3179, Orphanet:86829] synonym: "CNL" RELATED ABBREVIATION [GARD:0010585, ONCOTREE:CNL] synonym: "neutrophilic leukaemia" EXACT OMO:0003005 [] synonym: "neutrophilic leukemia" EXACT [NCIT:C3179] @@ -440396,12 +440485,12 @@ subset: ordo_disorder {source="Orphanet:86830"} subset: orphanet_rare {source="Orphanet:86830"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chronic myeloproliferative disease, unclassifiable" EXACT [NCIT:C27350] +synonym: "chronic myeloproliferative disease, unclassifiable" EXACT [NCIT:C27350, Orphanet:86830] synonym: "chronic myeloproliferative disorder, unclassifiable" EXACT [NCIT:C27350] synonym: "CMPD, U" EXACT [NCIT:C27350] -synonym: "CMPD-U" EXACT [NCIT:C27350, Orphanet:86830] +synonym: "CMPD-U" EXACT ABBREVIATION [NCIT:C27350, Orphanet:86830] synonym: "MPN, U" EXACT [NCIT:C27350] -synonym: "MPN-U" EXACT [NCIT:C27350] +synonym: "MPN-U" EXACT ABBREVIATION [NCIT:C27350] synonym: "myeloproliferative neoplasm, unclassifiable" EXACT [NCIT:C27350] synonym: "unclassifiable chronic myeloproliferative disease" EXACT [NCIT:C27350] synonym: "unclassifiable chronic myeloproliferative disorder" EXACT [NCIT:C27350] @@ -440425,9 +440514,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:86836"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDS-MLD" EXACT [NCIT:C8574] +synonym: "MDS-MLD" EXACT ABBREVIATION [NCIT:C8574] synonym: "RCMD" EXACT ABBREVIATION [NCIT:C8574] -synonym: "refractory cytopenia with multilineage dysplasia" EXACT [NCIT:C8574] +synonym: "refractory cytopenia with multilineage dysplasia" EXACT [ICD10CM:D46.A, NCIT:C8574, Orphanet:86836] xref: GARD:19069 {source="MONDO:GARD"} xref: ICD10CM:D46.A {source="MONDO:equivalentTo"} xref: ICD9:238.72 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -440452,13 +440541,13 @@ subset: ordo_disorder {source="Orphanet:86839"} subset: orphanet_rare {source="Orphanet:86839"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDS-EB" EXACT [NCIT:C7506] +synonym: "MDS-EB" EXACT ABBREVIATION [NCIT:C7506] synonym: "myelodysplastic syndrome with Excess blasts" EXACT [NCIT:C7506] -synonym: "RAEB" EXACT ABBREVIATION [NCIT:C7506] +synonym: "RAEB" EXACT ABBREVIATION [NCIT:C7506, Orphanet:86839] synonym: "refractory Anaemia with an Excess of blasts" EXACT OMO:0003005 [] synonym: "refractory Anaemia with Excess blasts" EXACT OMO:0003005 [] synonym: "refractory Anemia with an Excess of blasts" EXACT [NCIT:C7506] -synonym: "refractory Anemia with Excess blasts" EXACT [NCIT:C7506] +synonym: "refractory Anemia with Excess blasts" EXACT [NCIT:C7506, Orphanet:86839] xref: EFO:0003811 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19070 {source="MONDO:GARD"} xref: ICD10CM:D46.2 {source="Orphanet:86839/ntbt", source="Orphanet:86839"} @@ -440489,9 +440578,9 @@ subset: rare synonym: "acute (malignant) myelofibrosis" EXACT [NCIT:C4344] synonym: "acute (malignant) myelosclerosis" EXACT [NCIT:C4344] synonym: "acute myelodysplasia with myelofibrosis" EXACT [Orphanet:86843] -synonym: "acute myelofibrosis" EXACT [Orphanet:86843] -synonym: "acute myelosclerosis" EXACT [Orphanet:86843] -synonym: "acute panmyelosis" EXACT [NCIT:C4344] +synonym: "acute myelofibrosis" EXACT [icd11.foundation:585339631, NCIT:C4344, Orphanet:86843] +synonym: "acute myelosclerosis" EXACT [NCIT:C4344] +synonym: "acute panmyelosis" EXACT [icd11.foundation:585339631, NCIT:C4344] synonym: "APMF" EXACT ABBREVIATION [NCIT:C4344, ONCOTREE:APMF] xref: GARD:11907 {source="MONDO:GARD"} xref: ICD10CM:C94.4 {source="Orphanet:86843", source="Orphanet:86843/e"} @@ -440520,8 +440609,8 @@ subset: ordo_disorder {source="Orphanet:86845"} subset: orphanet_rare {source="Orphanet:86845"} subset: rare synonym: "acute myeloid leukaemia with myelodysplasia-related features" RELATED OMO:0003005 [] -synonym: "acute myeloid leukemia with myelodysplasia-related features" RELATED [Orphanet:86845] -synonym: "AML with multilineage dysplasia" EXACT [Orphanet:86845] +synonym: "acute myeloid leukemia with myelodysplasia-related features" RELATED [] +synonym: "AML with multilineage dysplasia" EXACT [NCIT:C9289, Orphanet:86845] synonym: "AML with myelodysplasia-related features" EXACT [Orphanet:86845] synonym: "De novo acute myeloid leukaemia with multilineage dysplasia" EXACT OMO:0003005 [] synonym: "De novo acute myeloid leukemia with multilineage dysplasia" EXACT [NCIT:C9289] @@ -440551,15 +440640,15 @@ synonym: "Secondary Acute granulocytic Leukemia" EXACT [NCIT:C25765] synonym: "Secondary Acute myeloblastic Leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute myeloblastic Leukemia" EXACT [NCIT:C25765] synonym: "Secondary Acute myelocytic Leukaemia" EXACT OMO:0003005 [] -synonym: "Secondary Acute myelocytic Leukemia" EXACT [NCIT:C25765] +synonym: "Secondary Acute myelocytic Leukemia" EXACT [] synonym: "Secondary Acute myelogenous Leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute myelogenous Leukemia" EXACT [NCIT:C25765] synonym: "secondary acute myeloid leukaemia" EXACT OMO:0003005 [] synonym: "Secondary Acute myeloid Leukaemia (AML)" EXACT OMO:0003005 [] -synonym: "secondary acute myeloid leukemia" EXACT [Orphanet:86846] +synonym: "secondary acute myeloid leukemia" EXACT [NCIT:C25765, Orphanet:86846] synonym: "Secondary Acute myeloid Leukemia (AML)" EXACT [NCIT:C25765] synonym: "Secondary AGL" EXACT [NCIT:C25765] -synonym: "secondary AML" EXACT [Orphanet:86846] +synonym: "secondary AML" EXACT [NCIT:C25765, Orphanet:86846] synonym: "therapy-related AML and myelodysplastic syndrome" EXACT [Orphanet:86846] xref: GARD:12762 {source="MONDO:GARD"} xref: ICD10CM:C92.0 {source="Orphanet:86846", source="Orphanet:86846/ntbt"} @@ -440622,7 +440711,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute leukaemia of indeterminate lineage" EXACT OMO:0003005 [] synonym: "acute leukaemia of undetermined lineage" RELATED OMO:0003005 [] -synonym: "acute leukemia of ambiguous lineage" EXACT [NCIT:C7464] +synonym: "acute leukemia of ambiguous lineage" EXACT [NCIT:C7464, Orphanet:86851] synonym: "acute leukemia of indeterminate lineage" EXACT [NCIT:C7464, Orphanet:86851] synonym: "acute leukemia of undetermined lineage" RELATED [GARD:0008638] synonym: "ALL with myeloid markers" RELATED [GARD:0008638] @@ -440635,7 +440724,7 @@ synonym: "hybrid acute leukemia" EXACT [Orphanet:86851] synonym: "mixed lineage acute leukaemia" EXACT OMO:0003005 [] synonym: "mixed lineage acute leukemia" EXACT [Orphanet:86851] synonym: "mixed phenotype acute leukaemia" RELATED OMO:0003005 [] -synonym: "mixed phenotype acute leukemia" RELATED [Orphanet:86851] +synonym: "mixed phenotype acute leukemia" RELATED [] xref: GARD:8638 {source="MONDO:GARD"} xref: ICD10CM:C95.0 {source="Orphanet:86851/ntbt", source="Orphanet:86851"} xref: icd11.foundation:1062906118 {source="Orphanet:86851", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} @@ -440663,8 +440752,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "B prolymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "B prolymphocytic leukemia" EXACT [NCIT:C4753] -synonym: "B-cell prolymphocytic leukemia" EXACT [MONDO:0006099, NCIT:C4753] -synonym: "B-PLL" EXACT [Orphanet:86852] +synonym: "B-cell prolymphocytic leukemia" EXACT [DOID:0081041, MONDO:0006099, NCIT:C4753, Orphanet:86852] +synonym: "B-PLL" EXACT ABBREVIATION [Orphanet:86852] synonym: "BPLL" RELATED ABBREVIATION [ONCOTREE:BPLL] xref: DOID:0081041 {source="MONDO:equivalentTo"} xref: EFO:1000102 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -440700,10 +440789,10 @@ synonym: "marginal zone lymphoma of spleen" EXACT [NCIT:C4663] synonym: "marginal zone lymphoma of the spleen" EXACT [NCIT:C4663] synonym: "SLVL" EXACT ABBREVIATION [NCIT:C4663] synonym: "SMZL" EXACT ABBREVIATION [NCIT:C4663, ONCOTREE:SMZL, Orphanet:86854] -synonym: "splenic lymphoma with circulating villous lymphocytes" EXACT [NCIT:C4663] +synonym: "splenic lymphoma with circulating villous lymphocytes" EXACT [icd11.foundation:1002343712, NCIT:C4663] synonym: "splenic marginal zone B-cell lymphoma" EXACT [NCIT:C4663] synonym: "splenic marginal zone B-cell lymphoma with villous lymphocytes" EXACT [NCIT:C4663] -synonym: "splenic marginal zone lymphoma" EXACT [MONDO:0006431, NCIT:C4663] +synonym: "splenic marginal zone lymphoma" EXACT [DOID:0050750, icd11.foundation:1002343712, MONDO:0006431, NCIT:C4663, Orphanet:86854] synonym: "splenic marginal zone lymphoma with villous lymphocytes" EXACT [NCIT:C4663] xref: DOID:0050750 {source="MONDO:equivalentTo"} xref: EFO:1000550 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -440749,7 +440838,7 @@ subset: orphanet_rare {source="Orphanet:86864"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HCD" EXACT ABBREVIATION [NCIT:C3082, Orphanet:86864] -synonym: "heavy chain disease" EXACT [NCIT:C3082] +synonym: "heavy chain disease" EXACT [DOID:0060125, ICD10CM:C88.2, NCIT:C3082, Orphanet:86864] xref: DOID:0060125 {source="MONDO:equivalentTo"} xref: EFO:1001341 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19074 {source="MONDO:GARD"} @@ -440788,9 +440877,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Monocytoid B-cell lymphoma" EXACT [NCIT:C8863] synonym: "NMZL" EXACT ABBREVIATION [ONCOTREE:NMZL, Orphanet:86867] -synonym: "nodal marginal zone B-cell lymph." EXACT [NCIT:C8863] -synonym: "nodal marginal zone B-cell lymphoma" EXACT [NCIT:C8863] -synonym: "nodal marginal zone lymphoma" EXACT [NCIT:C8863] +synonym: "nodal marginal zone B-cell lymph." EXACT [] +synonym: "nodal marginal zone B-cell lymphoma" EXACT [NCIT:C8863, Orphanet:86867] +synonym: "nodal marginal zone lymphoma" EXACT [DOID:0080211, icd11.foundation:1720785883, NCIT:C8863] xref: DOID:0080211 {source="MONDO:equivalentTo"} xref: GARD:19075 {source="MONDO:GARD"} xref: ICD10CM:C83.0 {source="Orphanet:86867", source="Orphanet:86867/ntbt"} @@ -440813,7 +440902,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1385"} subset: ordo_disorder {source="Orphanet:86869"} subset: orphanet_rare {source="Orphanet:86869"} subset: rare -synonym: "LYG" EXACT ABBREVIATION [ONCOTREE:LYG, Orphanet:86869] +synonym: "LYG" EXACT ABBREVIATION [NCIT:C7930, ONCOTREE:LYG, Orphanet:86869] xref: DOID:0081307 {source="MONDO:equivalentTo"} xref: GARD:6943 {source="MONDO:GARD"} xref: ICD10CM:C83.8 {source="Orphanet:86869", source="Orphanet:86869/ntbt"} @@ -440842,20 +440931,20 @@ subset: ordo_disorder {source="Orphanet:86870"} subset: orphanet_rare {source="Orphanet:86870"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "agranular CD4+ CD56+ hematodermic neoplasm/tumor" EXACT [NCIT:C7203] +synonym: "agranular CD4+ CD56+ hematodermic neoplasm/tumor" EXACT [DOID:0081076, NCIT:C7203] synonym: "agranular CD4+ natural Killer cell leukaemia" EXACT OMO:0003005 [] -synonym: "agranular CD4+ natural Killer cell leukemia" EXACT [NCIT:C7203] -synonym: "blastic natural Killer leukemia/lymphoma" EXACT [NCIT:C7203] -synonym: "blastic NK-cell lymphoma" EXACT [NCIT:C7203, Orphanet:86870] +synonym: "agranular CD4+ natural Killer cell leukemia" EXACT [DOID:0081076, NCIT:C7203] +synonym: "blastic natural Killer leukemia/lymphoma" EXACT [DOID:0081076, NCIT:C7203] +synonym: "blastic NK-cell lymphoma" EXACT [DOID:0081076, icd11.foundation:783045723, NCIT:C7203] synonym: "blastic plasmacytoid dendritic cell" RELATED [GARD:0010556] -synonym: "blastic plasmacytoid Dendritic cell neoplasm" EXACT [NCIT:C7203] -synonym: "blastic plasmacytoid dendritic cell neoplasm" EXACT [Orphanet:86870] -synonym: "BPDCN" EXACT ABBREVIATION [Orphanet:86870] -synonym: "CD4+/CD56+ hematodermic neoplasm" EXACT [GARD:0010556, NCIT:C7203] -synonym: "early plasmacytoid Dendritic cell leukemia/lymphoma" EXACT [NCIT:C7203] -synonym: "lymphoblastoid variant of NK-cell lymphoma" EXACT [GARD:0010556, Orphanet:86870] -synonym: "monomorphic NK-cell lymphoma" EXACT [GARD:0010556, NCIT:C7203, Orphanet:86870] -synonym: "primary cutaneous CD4+/CD56+ hematolymphoid neoplasm" EXACT [NCIT:C7203] +synonym: "blastic plasmacytoid Dendritic cell neoplasm" EXACT [DOID:0081076, icd11.foundation:783045723, NCIT:C7203, Orphanet:86870] +synonym: "blastic plasmacytoid dendritic cell neoplasm" EXACT [DOID:0081076, icd11.foundation:783045723, NCIT:C7203, Orphanet:86870] +synonym: "BPDCN" EXACT ABBREVIATION [NCIT:C7203, Orphanet:86870] +synonym: "CD4+/CD56+ hematodermic neoplasm" EXACT [DOID:0081076, GARD:0010556, NCIT:C7203] +synonym: "early plasmacytoid Dendritic cell leukemia/lymphoma" EXACT [] +synonym: "lymphoblastoid variant of NK-cell lymphoma" EXACT [GARD:0010556] +synonym: "monomorphic NK-cell lymphoma" EXACT [GARD:0010556, NCIT:C7203] +synonym: "primary cutaneous CD4+/CD56+ hematolymphoid neoplasm" EXACT [] xref: DOID:0081076 {source="MONDO:equivalentTo"} xref: EFO:0010580 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10556 {source="MONDO:GARD"} @@ -440885,23 +440974,23 @@ subset: orphanet_rare {source="Orphanet:86871"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chronic T-cell leukaemia" NARROW OMO:0003005 [] -synonym: "chronic T-cell leukemia" NARROW DEPRECATED [NCIT:C70649] +synonym: "chronic T-cell leukemia" NARROW DEPRECATED [] synonym: "chronic T-cell lymphocytic leukaemia" NARROW OMO:0003005 [] -synonym: "chronic T-cell lymphocytic leukemia" NARROW DEPRECATED [NCIT:C70649] -synonym: "CLL, T-cell" EXACT [NCIT:C70649] +synonym: "chronic T-cell lymphocytic leukemia" NARROW DEPRECATED [] +synonym: "CLL, T-cell" EXACT [] synonym: "leukemia, T-cell, chronic" RELATED [GARD:0008224] synonym: "T cell chronic lymphocytic leukaemia" EXACT OMO:0003005 [] -synonym: "T cell chronic lymphocytic leukemia" EXACT [NCIT:C70649] -synonym: "T cell CLL" EXACT [NCIT:C70649] +synonym: "T cell chronic lymphocytic leukemia" EXACT [] +synonym: "T cell CLL" EXACT [] synonym: "T cell prolymphocytic leukaemia" EXACT OMO:0003005 [] -synonym: "T cell prolymphocytic leukemia" EXACT [NCIT:C4752] +synonym: "T cell prolymphocytic leukemia" EXACT [DOID:0081042, NCIT:C4752] synonym: "T prolymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T prolymphocytic leukemia" EXACT [NCIT:C4752] synonym: "T-cell chronic lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "T-cell chronic lymphocytic leukemia" EXACT [Orphanet:86871] -synonym: "T-cell CLL" EXACT [NCIT:C70649] -synonym: "T-cell prolymphocytic leukemia" EXACT [MONDO:0006441, NCIT:C4752] -synonym: "T-PLL" EXACT [Orphanet:86871] +synonym: "T-cell CLL" EXACT [] +synonym: "T-cell prolymphocytic leukemia" EXACT [DOID:0081042, MONDO:0006441, NCIT:C4752, Orphanet:86871] +synonym: "T-PLL" EXACT ABBREVIATION [Orphanet:86871] synonym: "TPLL" RELATED ABBREVIATION [ONCOTREE:TPLL] xref: DOID:0081042 {source="MONDO:equivalentTo"} xref: EFO:1000560 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -440940,7 +441029,7 @@ synonym: "large cell granular lymphoid leukaemia" EXACT OMO:0003005 [] synonym: "large cell granular lymphoid leukemia" EXACT [NCIT:C4664] synonym: "large granular lymphocyte leukaemia" RELATED OMO:0003005 [] synonym: "large granular lymphocyte leukemia" RELATED [GARD:0009812] -synonym: "large granular lymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "large granular lymphocytic leukaemia" EXACT OMO:0003005 [DOID:0050751] synonym: "large granular lymphocytic leukemia" EXACT [DOID:0050751, NCIT:C4664] synonym: "large granular lymphocytosis" EXACT [NCIT:C4664] synonym: "leukemia, large granular LYMPHOCYTIC, malignant" EXACT [NCIT:C4664] @@ -440949,16 +441038,16 @@ synonym: "LGL leukemia" RELATED [GARD:0009812] synonym: "LGLL" EXACT ABBREVIATION [NCIT:C4664] synonym: "proliferation of large granular lymphocytes" EXACT [Orphanet:86872] synonym: "T gamma lymphoproliferative disorder" EXACT [NCIT:C4664] -synonym: "T-cell large gran. lymph. leuk." EXACT [NCIT:C4664] -synonym: "T-cell large granular lymphocyte leukemia" EXACT [NCIT:C4664] -synonym: "T-cell large granular lymphocytic leukaemia" EXACT OMO:0003005 [] +synonym: "T-cell large gran. lymph. leuk." EXACT [] +synonym: "T-cell large granular lymphocyte leukemia" EXACT [DOID:0050751, NCIT:C4664, Orphanet:86872] +synonym: "T-cell large granular lymphocytic leukaemia" EXACT OMO:0003005 [icd11.foundation:83430037] synonym: "T-cell large granular lymphocytic leukemia" EXACT [NCIT:C4664] synonym: "T-cell LGL leukaemia" EXACT OMO:0003005 [] synonym: "T-cell LGL leukemia" EXACT [Orphanet:86872] synonym: "T-gamma lymphoproliferative disorder" EXACT [NCIT:C4664] -synonym: "T-LGL" EXACT [Orphanet:86872] +synonym: "T-LGL" EXACT ABBREVIATION [Orphanet:86872] synonym: "T-LGL leukaemia" EXACT OMO:0003005 [] -synonym: "T-LGL leukemia" EXACT [NCIT:C4664] +synonym: "T-LGL leukemia" EXACT [] synonym: "Tgamma large granular lymphocyte leukaemia" EXACT OMO:0003005 [] synonym: "Tgamma large granular lymphocyte leukemia" EXACT [NCIT:C4664] synonym: "TLGL" RELATED ABBREVIATION [ONCOTREE:TLGL] @@ -441000,20 +441089,20 @@ synonym: "aggressive natural killer cell leukemia" RELATED [GARD:0010493] synonym: "aggressive NK cell leukaemia" RELATED OMO:0003005 [] synonym: "aggressive NK cell leukemia" RELATED [GARD:0010493] synonym: "aggressive NK-cell leukaemia (morphologic abnormality)" EXACT OMO:0003005 [] -synonym: "aggressive NK-cell leukemia" EXACT [NCIT:C8647] -synonym: "aggressive NK-cell leukemia (morphologic abnormality)" EXACT [DOID:1035] +synonym: "aggressive NK-cell leukemia" EXACT [DOID:1035, NCIT:C8647, Orphanet:86873] +synonym: "aggressive NK-cell leukemia (morphologic abnormality)" EXACT [] synonym: "aggressive NK-cell leukemia/lymphoma" EXACT [NCIT:C8647] synonym: "aggressive NK-cell lymphoma" EXACT [Orphanet:86873] synonym: "ANKCL" EXACT ABBREVIATION [Orphanet:86873] synonym: "ANKL" RELATED ABBREVIATION [GARD:0010493, ONCOTREE:ANKL] -synonym: "large granular lymphocyte leukemia, NK-cell type" EXACT [DOID:1035, NCIT:C8647] +synonym: "large granular lymphocyte leukemia, NK-cell type" EXACT [DOID:1035] synonym: "leukaemia (disease) of natural killer cell" EXACT OMO:0003005 [] synonym: "leukemia (disease) of natural killer cell" EXACT [] -synonym: "natural Killer cell leukaemia" EXACT OMO:0003005 [] -synonym: "natural killer cell leukaemia" EXACT OMO:0003005 [] +synonym: "natural Killer cell leukaemia" EXACT OMO:0003005 [DOID:1035] +synonym: "natural killer cell leukaemia" EXACT OMO:0003005 [DOID:1035] synonym: "natural killer cell leukaemia (disease)" EXACT OMO:0003005 [] -synonym: "natural Killer cell leukemia" EXACT [NCIT:C8647] -synonym: "natural killer cell leukemia" EXACT [MONDO:0001010] +synonym: "natural Killer cell leukemia" EXACT [DOID:1035, NCIT:C8647] +synonym: "natural killer cell leukemia" EXACT [DOID:1035, MONDO:0001010, NCIT:C8647] synonym: "natural killer cell leukemia (disease)" EXACT [MONDO:patterns/location] synonym: "NK cell leukaemia" EXACT OMO:0003005 [] synonym: "NK cell leukemia" EXACT [NCIT:C8647] @@ -441057,16 +441146,16 @@ subset: ordo_disorder {source="Orphanet:86875"} subset: orphanet_rare {source="Orphanet:86875"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult T cell lymphoma/leukemia" RELATED [NCIT:C3184] +synonym: "adult T cell lymphoma/leukemia" RELATED [] synonym: "adult T-cell leukaemia" EXACT OMO:0003005 [] synonym: "adult T-cell leukemia" EXACT [DOID:0050523, GARD:0013103] -synonym: "adult T-cell leukemia/lymphoma" EXACT [DOID:0050523, MONDO:0000347, NCIT:C3184] +synonym: "adult T-cell leukemia/lymphoma" EXACT [DOID:0050523, MONDO:0000347, NCIT:C3184, Orphanet:86875] synonym: "adult T-cell leukemia/lymphoma (HTLV-1 positive)" RELATED [GARD:0013103] synonym: "adult T-cell lymphoma" RELATED [GARD:0013103] -synonym: "adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184] -synonym: "ATLL" EXACT ABBREVIATION [Orphanet:86875] -synonym: "HTLV-1 associated adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184] -synonym: "HTLV-I associated adult T-cell leukemia/lymphoma" RELATED [NCIT:C3184] +synonym: "adult T-cell lymphoma/leukemia" RELATED [] +synonym: "ATLL" EXACT ABBREVIATION [NCIT:C3184, Orphanet:86875] +synonym: "HTLV-1 associated adult T-cell lymphoma/leukemia" RELATED [] +synonym: "HTLV-I associated adult T-cell leukemia/lymphoma" RELATED [] synonym: "T-cell leukaemia of adults" EXACT OMO:0003005 [] synonym: "T-cell leukemia of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] xref: DOID:0050523 {source="MONDO:equivalentTo"} @@ -441103,12 +441192,12 @@ subset: ordo_disorder {source="Orphanet:86879"} subset: orphanet_rare {source="Orphanet:86879"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "angiocentric T-cell lymphoma" EXACT [Orphanet:86879] -synonym: "Extranodal NK/T lymphoma-nasal" EXACT [NCIT:C4684] -synonym: "Extranodal NK/T-cell lymphoma, nasal type" EXACT [NCIT:C4684] +synonym: "angiocentric T-cell lymphoma" EXACT [NCIT:C4684, Orphanet:86879] +synonym: "Extranodal NK/T lymphoma-nasal" EXACT [] +synonym: "Extranodal NK/T-cell lymphoma, nasal type" EXACT [icd11.foundation:684005900, NCIT:C4684] synonym: "lethal midline granuloma" EXACT [Orphanet:86879] synonym: "nasal T/natural killer-cell lymphoma" EXACT [Orphanet:86879] -synonym: "nasal type Extranodal NK/T-cell lymphoma" EXACT [NCIT:C4684] +synonym: "nasal type Extranodal NK/T-cell lymphoma" EXACT [DOID:0080797, NCIT:C4684] synonym: "NK/T-cell lymphoma" EXACT [Orphanet:86879] synonym: "NKTCL" EXACT ABBREVIATION [Orphanet:86879] synonym: "reticulosis, malignant" EXACT [NCIT:C4684] @@ -441141,14 +441230,14 @@ subset: orphanet_rare {source="Orphanet:86880"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "EATCL" RELATED ABBREVIATION [GARD:0009809] -synonym: "EATL" EXACT ABBREVIATION [ONCOTREE:EATL, Orphanet:86880] -synonym: "EATL, type I" EXACT [NCIT:C4737] -synonym: "enteropathy associated T-cell lymphoma" EXACT [NCIT:C4737] -synonym: "enteropathy-associated T-cell lymphoma, type I" EXACT [NCIT:C4737] -synonym: "enteropathy-type T-cell lymphoma" EXACT [Orphanet:86880] +synonym: "EATL" EXACT ABBREVIATION [NCIT:C4737, ONCOTREE:EATL, Orphanet:86880] +synonym: "EATL, type I" EXACT [] +synonym: "enteropathy associated T-cell lymphoma" EXACT [icd11.foundation:958629729, NCIT:C4737] +synonym: "enteropathy-associated T-cell lymphoma, type I" EXACT [] +synonym: "enteropathy-type T-cell lymphoma" EXACT [NCIT:C4737, Orphanet:86880] synonym: "ETTL" EXACT ABBREVIATION [Orphanet:86880] synonym: "high-grade pleomorphic peripheral T-cell lymphoma" RELATED [GARD:0009809] -synonym: "intestinal T-cell lymphoma" EXACT [Orphanet:86880] +synonym: "intestinal T-cell lymphoma" EXACT [icd11.foundation:958629729, Orphanet:86880] xref: GARD:9809 {source="MONDO:GARD"} xref: ICD10CM:C86.2 {source="Orphanet:86880/e", source="Orphanet:86880"} xref: icd11.foundation:958629729 {source="MONDO:equivalentTo", source="Orphanet:86880", source="https://orcid.org/0000-0002-4142-7153"} @@ -441203,12 +441292,12 @@ subset: ordo_disorder {source="Orphanet:86884"} subset: orphanet_rare {source="Orphanet:86884"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SPTCL" EXACT ABBREVIATION [ONCOTREE:SPTCL, Orphanet:86884] +synonym: "SPTCL" EXACT ABBREVIATION [NCIT:C6918, OMIM:618398, ONCOTREE:SPTCL, Orphanet:86884] synonym: "subcutaneous panniculitic T-cell lymphoma" EXACT [Orphanet:86884] -synonym: "subcutaneous panniculitis-like T-cell lymphoma" EXACT [MONDO:0006433] +synonym: "subcutaneous panniculitis-like T-cell lymphoma" EXACT [ICD10CM:C86.3, icd11.foundation:1550338805, MONDO:0006433, NCIT:C6918, Orphanet:86884] synonym: "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)" EXACT [NCIT:C6918] synonym: "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type" EXACT [NCIT:C6918] -synonym: "T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE" RELATED [OMIM:618398] +synonym: "T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE" RELATED [] xref: EFO:1000552 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10193 {source="MONDO:GARD"} xref: ICD10CM:C86.3 {source="MONDO:equivalentTo"} @@ -441238,7 +441327,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:86885"} subset: orphanet_rare {source="Orphanet:86885"} subset: rare -synonym: "primary cutaneous peripheral T-cell lymphoma NOS" RELATED EXCLUDE [Orphanet:86885] +synonym: "primary cutaneous peripheral T-cell lymphoma NOS" RELATED EXCLUDE [] synonym: "primary cutaneous unspecified peripheral T-cell lymphoma" EXACT [Orphanet:86885] xref: GARD:19078 {source="MONDO:GARD"} xref: ICD10CM:C84.4 {source="Orphanet:86885", source="MONDO:relatedTo", source="Orphanet:86885/ntbt"} @@ -441269,7 +441358,7 @@ subset: rare synonym: "adult NLPHD" EXACT [NCIT:C7942] synonym: "adult nodular lymphocyte predominant Hodgkin's disease" EXACT [NCIT:C7942] synonym: "adult nodular lymphocyte predominant Hodgkin's lymphoma" EXACT [NCIT:C7942] -synonym: "nodular lymphocyte predominant Hodgkin lymphoma" BROAD [NCIT:C7942] +synonym: "nodular lymphocyte predominant Hodgkin lymphoma" BROAD [] xref: MEDGEN:231044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7942 {source="MONDO:equivalentTo", source="UMLS:C1332210"} xref: UMLS:C1332210 {source="MEDGEN:231044", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -441288,7 +441377,7 @@ subset: ordo_disorder {source="Orphanet:86896"} subset: orphanet_rare {source="Orphanet:86896"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "histiocytic sarcoma" EXACT [NCIT:C27349] +synonym: "histiocytic sarcoma" EXACT [DOID:0080915, ICD10CM:C96.A, icd11.foundation:911785965, NCIT:C27349, Orphanet:86896] synonym: "sarcoma, histiocytic, malignant" EXACT [NCIT:C27349] xref: DOID:0080915 {source="MONDO:equivalentTo"} xref: GARD:19080 {source="MONDO:GARD"} @@ -441317,7 +441406,7 @@ subset: ordo_disorder {source="Orphanet:86897"} subset: orphanet_rare {source="Orphanet:86897"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Langerhans cell sarcoma" EXACT [MONDO:patterns/location, NCIT:C6921] +synonym: "Langerhans cell sarcoma" EXACT [DOID:7146, icd11.foundation:588958190, MONDO:patterns/location, NCIT:C6921, Orphanet:86897] synonym: "LCS" RELATED ABBREVIATION [ONCOTREE:LCS] synonym: "malignant Langerhans cell sarcoma" RELATED [GARD:0010491] synonym: "sarcoma of Langerhans cell" EXACT [MONDO:patterns/sarcoma] @@ -441369,10 +441458,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:86904"} subset: orphanet_rare {source="Orphanet:86904"} subset: rare -synonym: "methotrexate-associated lymphoproliferation" EXACT [MONDO:0003657] +synonym: "methotrexate-associated lymphoproliferation" EXACT [DOID:5821, MONDO:0003657] synonym: "methotrexate-associated lymphoproliferative disorder" EXACT [NCIT:C7184] synonym: "MTX-associated lymphoproliferative disorders" EXACT [Orphanet:86904] -synonym: "MTX-LPD" EXACT [Orphanet:86904] +synonym: "MTX-LPD" EXACT ABBREVIATION [Orphanet:86904] xref: DOID:5821 {source="MONDO:equivalentTo"} xref: GARD:19083 {source="MONDO:GARD"} xref: icd11.foundation:1520483526 {source="MONDO:equivalentTo"} @@ -441512,9 +441601,9 @@ synonym: "familial Lev disease" EXACT [DOID:0111073, Orphanet:871] synonym: "familial Lev-Lenegre disease" EXACT [DOID:0111073] synonym: "familial Lev-Lenègre disease" EXACT [Orphanet:871] synonym: "familial PCCD" EXACT [DOID:0111073, Orphanet:871] -synonym: "familial progressive cardiac conduction defect" RELATED [Orphanet:871] +synonym: "familial progressive cardiac conduction defect" RELATED [] synonym: "familial progressive heart block" EXACT [DOID:0111073, Orphanet:871] -synonym: "hereditary bundle branch defect" NARROW [DOID:0111073, Orphanet:871] +synonym: "hereditary bundle branch defect" NARROW [] synonym: "PFHB" EXACT ABBREVIATION [DOID:0111073] xref: DOID:0111073 {source="MONDO:equivalentTo"} xref: GARD:10005 {source="MONDO:GARD"} @@ -441604,9 +441693,9 @@ subset: gard_rare {source="GARD:9316", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:877"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "APUDoma" EXACT [Orphanet:877] -synonym: "neuroendocrine neoplasm" EXACT [DOID:169, NCIT:C3809] -synonym: "neuroendocrine tumor" EXACT [NCIT:C3809] +synonym: "APUDoma" EXACT [] +synonym: "neuroendocrine neoplasm" EXACT [DOID:169, NCIT:C3809, Orphanet:877] +synonym: "neuroendocrine tumor" EXACT [DOID:169, NCIT:C3809] synonym: "neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:169 {source="MONDO:equivalentTo"} xref: EFO:1001901 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -441640,12 +441729,12 @@ subset: orphanet_rare {source="Orphanet:87884"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial deafness" NARROW [GARD:0006410] -synonym: "isolated genetic deafness" NARROW [Orphanet:87884] -synonym: "non-syndromic genetic deafness" NARROW [Orphanet:87884] -synonym: "nonsyndromic deafness" BROAD [DOID:0050563] -synonym: "nonsyndromic genetic deafness" NARROW [Orphanet:87884] +synonym: "isolated genetic deafness" NARROW [] +synonym: "non-syndromic genetic deafness" NARROW [] +synonym: "nonsyndromic deafness" BROAD [] +synonym: "nonsyndromic genetic deafness" NARROW [] synonym: "nonsyndromic genetic hearing loss" EXACT CLINGEN_LABEL [] -synonym: "nonsyndromic hearing loss" BROAD [DOID:0050563, MONDO:patterns/isolated] +synonym: "nonsyndromic hearing loss" BROAD [MONDO:patterns/isolated] synonym: "nonsyndromic hereditary hearing loss" EXACT [DOID:0050563] xref: DOID:0050563 {source="MONDO:equivalentTo"} xref: GARD:19091 {source="MONDO:GARD"} @@ -441718,16 +441807,16 @@ synonym: "45,X syndrome" EXACT [Orphanet:881] synonym: "45,X/46,XX syndrome" EXACT [Orphanet:881] synonym: "45,X0 syndrome" EXACT [NCIT:C26900] synonym: "45X syndrome" EXACT [NCIT:C26900] -synonym: "Bonnevie-Ullrich syndrome" RELATED [DOID:3491] +synonym: "Bonnevie-Ullrich syndrome" RELATED [] synonym: "chromosome X monosomy X" RELATED [GARD:0007831] synonym: "genital dwarfism" RELATED [GARD:0002458] synonym: "genital dwarfism, Turner type" RELATED [GARD:0002459] -synonym: "gonadal dysgenesis" BROAD [NCIT:C26900] +synonym: "gonadal dysgenesis" BROAD [] synonym: "gonadal dysgenesis (45,X)" RELATED [GARD:0007831] synonym: "gonadal dysgenesis - Turner" EXACT [DOID:3491] synonym: "gonadal dysgenesis Turner type" RELATED [GARD:0002540] synonym: "karyotype 45, X" EXACT [DOID:3491] -synonym: "monosomy X" NARROW [DOID:3491, NCIT:C36630] +synonym: "monosomy X" NARROW [] synonym: "monosomy X syndrome" EXACT [DOID:3491] synonym: "Schereshevkii Turner syndrome" RELATED [GARD:0007831] synonym: "Turner Varny syndrome" RELATED [GARD:0007831] @@ -441807,8 +441896,9 @@ synonym: "deafness-retinitis pigmentosa syndrome" NARROW [GARD:0007843] synonym: "dystrophia retinae pigmentosa-dysostosis syndrome" RELATED [GARD:0007843] synonym: "Graefe-Usher syndrome" RELATED [GARD:0007843] synonym: "Hallgren syndrome" RELATED [GARD:0007843] -synonym: "retinitis pigmentosa-deafness syndrome" NARROW [Orphanet:886] -synonym: "ush" EXACT [Orphanet:886] +synonym: "retinitis pigmentosa-deafness syndrome" NARROW [] +synonym: "USH" EXACT ABBREVIATION [Orphanet:886] +synonym: "ush" EXACT [] synonym: "Usher's syndrome" EXACT [GARD:0007843] xref: DOID:0050439 {source="MONDO:equivalentTo"} xref: GARD:7843 {source="MONDO:GARD"} @@ -441843,15 +441933,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:88616"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AR-NSID" EXACT [Orphanet:88616] -synonym: "autosomal recessive intellectual disability" EXACT [DOID:0060308] +synonym: "AR-NSID" EXACT ABBREVIATION [Orphanet:88616] +synonym: "autosomal recessive intellectual disability" EXACT [] synonym: "autosomal recessive mental retardation" EXACT DEPRECATED [DOID:0060308] -synonym: "autosomal recessive non-syndromic intellectual disability" EXACT [DOID:0060308] +synonym: "autosomal recessive non-syndromic intellectual disability" EXACT [Orphanet:88616] synonym: "autosomal recessive non-syndromic mental retardation" EXACT DEPRECATED [DOID:0060308] -synonym: "intellectual disability, autosomal recessive" EXACT [OMIMPS:249500] -synonym: "mental retardation, autosomal recessive" EXACT DEPRECATED [OMIMPS:249500] +synonym: "intellectual disability, autosomal recessive" EXACT [] +synonym: "mental retardation, autosomal recessive" EXACT DEPRECATED [] synonym: "non-syndromic intellectual disability, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] -synonym: "NS-ARID" EXACT [Orphanet:88616] +synonym: "NS-ARID" EXACT ABBREVIATION [Orphanet:88616] xref: DOID:0060308 {source="MONDO:equivalentTo"} xref: GARD:18643 {source="MONDO:GARD"} xref: MEDGEN:1826073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -441914,8 +442004,8 @@ subset: ordo_disorder {source="Orphanet:88633"} subset: orphanet_rare {source="Orphanet:88633"} subset: rare synonym: "SLK" EXACT ABBREVIATION [Orphanet:88633] -synonym: "Theodore's superior limbic keratoconjunctivitis" EXACT [Orphanet:88633] -synonym: "Theodore's syndrome" EXACT [Orphanet:88633] +synonym: "Theodore's superior limbic keratoconjunctivitis" EXACT [] +synonym: "Theodore's syndrome" EXACT [] synonym: "Theodores superior limbic keratoconjunctivitis" RELATED [GARD:0010940] synonym: "Theodores syndrome" RELATED [GARD:0010940] xref: GARD:10940 {source="MONDO:GARD"} @@ -441935,7 +442025,7 @@ name: obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome def: "OBSOLETE. Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterized by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia." [Orphanet:88637] subset: ordo_subtype_of_a_disorder {source="Orphanet:88637"} subset: otar {source="MONDO:OTAR"} -synonym: "4H syndrome" EXACT [Orphanet:88637] +synonym: "4H syndrome" EXACT [] xref: ICD10CM:G11.1 {source="Orphanet:88637", source="Orphanet:88637/attributed", source="Orphanet:88637/ntbt"} xref: Orphanet:88637 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0011897 {source="Orphanet:88637", source="Orphanet:88637/ntbt", source="https://orcid.org/0000-0001-5208-3432"} ! leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome @@ -442008,7 +442098,7 @@ subset: rare synonym: "cleft lip and/or palate with mucous cysts of lower lip" RELATED [GARD:0008414] synonym: "cleft lip/palate with mucous cysts of lower lip" EXACT [Orphanet:888] synonym: "lip pit syndrome" RELATED [GARD:0008414] -synonym: "lip-pit syndrome" EXACT [DOID:0060239, Orphanet:888] +synonym: "lip-pit syndrome" EXACT [Orphanet:888] synonym: "LPS" RELATED ABBREVIATION [GARD:0008414] synonym: "VWS" EXACT ABBREVIATION [Orphanet:888] xref: DOID:0060239 {source="MONDO:equivalentTo"} @@ -442041,10 +442131,10 @@ subset: ordo_disorder {source="Orphanet:889"} subset: orphanet_rare {source="Orphanet:889"} subset: rare synonym: "cutaneous hypersensitivity vasculitis" EXACT [Orphanet:889] -synonym: "cutaneous leukocytoclastic vasculitis" EXACT [Orphanet:889] -synonym: "cutaneous small vessel vasculitis" EXACT [Orphanet:889] +synonym: "cutaneous leukocytoclastic vasculitis" EXACT [NCIT:C122919] +synonym: "cutaneous small vessel vasculitis" EXACT [NCIT:C122919, Orphanet:889] synonym: "cutaneous small-vessel vasculitis" EXACT [NCIT:C122919] -synonym: "hypersensitivity angiitis" EXACT [Orphanet:889] +synonym: "hypersensitivity angiitis" EXACT [] synonym: "leukocytoclastic angiitis" RELATED [GARD:0007851] xref: GARD:7851 {source="MONDO:GARD"} xref: ICD10CM:M31.0 {source="Orphanet:889/ntbt", source="Orphanet:889"} @@ -442080,10 +442170,10 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:88991"} subset: otar {source="MONDO:OTAR"} synonym: "congenital heart malformation" EXACT [MONDO:0005472] -synonym: "congenital non-syndromic heart malformation" RELATED [Orphanet:88991] +synonym: "congenital non-syndromic heart malformation" RELATED [] synonym: "disorder of heart development" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "heart development disease" EXACT [MONDO:design_pattern] -synonym: "rare congenital non-syndromic heart malformation" RELATED [Orphanet:88991] +synonym: "rare congenital non-syndromic heart malformation" RELATED [] xref: EFO:0005269 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1680993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:88991 {source="MONDO:equivalentTo"} @@ -442117,10 +442207,10 @@ subset: orphanet_rare {source="Orphanet:890"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Budd Chiari Syndrome" EXACT [NORD:879] -synonym: "hepatic Vod" EXACT [Orphanet:890] +synonym: "hepatic Vod" EXACT [] synonym: "liver veno-occlusive disease" EXACT [NCIT:C26793] -synonym: "sinusoidal obstruction syndrome" EXACT [Orphanet:890] -synonym: "veno-occlusive disease" RELATED [DOID:0080177] +synonym: "sinusoidal obstruction syndrome" EXACT [NCIT:C26793, Orphanet:890] +synonym: "veno-occlusive disease" RELATED [] xref: DOID:0080177 {source="MONDO:equivalentTo"} xref: GARD:13004 {source="MONDO:GARD"} xref: ICD10CM:K76.5 {source="Orphanet:890/e", source="DOID:0080177", source="MONDO:equivalentTo", source="Orphanet:890"} @@ -442161,7 +442251,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Criswick-Schepens syndrome" EXACT [Orphanet:891] synonym: "exudative vitreoretinopathy, familial" RELATED [GARD:0001613] -synonym: "familial exudative vitreoretinopathy" EXACT [DOID:0050535] +synonym: "familial exudative vitreoretinopathy" EXACT [DOID:0050535, Orphanet:891] synonym: "FEVR" EXACT ABBREVIATION [DOID:0050535, Orphanet:891] xref: DOID:0050535 {source="MONDO:equivalentTo"} xref: GARD:1613 {source="MONDO:GARD"} @@ -442193,8 +442283,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:895"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Waardenburg syndrome type 2" EXACT CLINGEN_LABEL [] -synonym: "Waardenburg syndrome type II" EXACT [Orphanet:895] +synonym: "Waardenburg syndrome type 2" EXACT CLINGEN_LABEL [icd11.foundation:746815303, NCIT:C75009, Orphanet:895] +synonym: "Waardenburg syndrome type II" EXACT [NCIT:C75009, Orphanet:895] synonym: "WS 2" RELATED [GARD:0005520] synonym: "WS type 2" RELATED [GARD:0005520] synonym: "WS2" EXACT ABBREVIATION [Orphanet:895] @@ -442227,7 +442317,7 @@ synonym: "Waardenburg syndrome type 4" EXACT [https://rarediseases.info.nih.gov/ synonym: "Waardenburg syndrome type IV" EXACT [NCIT:C124842] synonym: "Waardenburg-Hirschsprung disease" RELATED [GARD:0005524] synonym: "Waardenburg-Hirschsprung syndrome" EXACT [GARD:0005524, Orphanet:897] -synonym: "Waardenburg-Shah syndrome" EXACT [GARD:0005524, NCIT:C124842] +synonym: "Waardenburg-Shah syndrome" EXACT [GARD:0005524, icd11.foundation:1420151003, NCIT:C124842, Orphanet:897] synonym: "WS4" EXACT ABBREVIATION [Orphanet:897] xref: GARD:5524 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:897/attributed", source="Orphanet:897/ntbt", source="Orphanet:897"} @@ -442276,10 +442366,10 @@ def: "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an e subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "centripetal dystrophic epidermolysis bullosa" EXACT [Orphanet:89841] -synonym: "centripetal recessive dystrophic epidermolysis bullosa" EXACT [Orphanet:89841] -synonym: "RDEB, centripetalis" EXACT [Orphanet:89841] -synonym: "RDEB-Ce" EXACT [Orphanet:89841] +synonym: "centripetal dystrophic epidermolysis bullosa" EXACT [] +synonym: "centripetal recessive dystrophic epidermolysis bullosa" EXACT [] +synonym: "RDEB, centripetalis" EXACT [] +synonym: "RDEB-Ce" EXACT [] xref: ICD10CM:Q81.2 {source="Orphanet:89841", source="Orphanet:89841/attributed", source="Orphanet:89841/ntbt"} xref: MEDGEN:1377762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:89841 {source="MONDO:equivalentObsolete"} @@ -442299,18 +442389,18 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata mitis" EXACT [Orphanet:89842] synonym: "autosomal recessive dystrophic epidermolysis bullosa, generalised other" EXACT OMO:0003005 [] -synonym: "autosomal recessive dystrophic epidermolysis bullosa, generalized other" EXACT [Orphanet:89842] +synonym: "autosomal recessive dystrophic epidermolysis bullosa, generalized other" EXACT [] synonym: "generalised mitis RDEB" EXACT OMO:0003005 [] -synonym: "generalized mitis RDEB" EXACT [Orphanet:89842] -synonym: "RDEB generalisata mitis" EXACT [Orphanet:89842] +synonym: "generalized mitis RDEB" EXACT [] +synonym: "RDEB generalisata mitis" EXACT [] synonym: "RDEB, generalised intermediate" EXACT OMO:0003005 [] -synonym: "RDEB, generalized intermediate" EXACT [Orphanet:89842] +synonym: "RDEB, generalized intermediate" EXACT [] synonym: "RDEB, non-Hallopeau-Siemens type" EXACT [Orphanet:89842] -synonym: "RDEB-generalized other" EXACT [Orphanet:89842] -synonym: "RDEB-O" EXACT [Orphanet:89842] +synonym: "RDEB-generalized other" EXACT [] +synonym: "RDEB-O" EXACT [] synonym: "recessive dystrophic epidermolysis bullosa, generalised intermediate" RELATED OMO:0003005 [] -synonym: "recessive dystrophic epidermolysis bullosa, generalized intermediate" RELATED [Orphanet:89842] -synonym: "recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type" EXACT [Orphanet:89842] +synonym: "recessive dystrophic epidermolysis bullosa, generalized intermediate" RELATED [] +synonym: "recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type" EXACT [] xref: GARD:12794 {source="MONDO:GARD"} xref: ICD10CM:Q81.2 {source="Orphanet:89842", source="Orphanet:89842/attributed", source="Orphanet:89842/ntbt"} xref: MEDGEN:1392226 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -442336,7 +442426,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:89938"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bartter syndrome type 4" EXACT [Orphanet:89938] +synonym: "Bartter syndrome type 4" EXACT [icd11.foundation:959024909, Orphanet:89938] synonym: "Bartter syndrome type IV" EXACT [Orphanet:89938] synonym: "Bartter syndrome with sensorineural deafness" EXACT [GARD:0010508, Orphanet:89938] xref: GARD:10508 {source="MONDO:GARD"} @@ -442365,7 +442455,7 @@ synonym: "48 XXXX syndrome" RELATED [GARD:0007754] synonym: "48,XXXX syndrome" EXACT [Orphanet:9] synonym: "quadruple X" EXACT [Orphanet:9] synonym: "tetra X" EXACT [Orphanet:9] -synonym: "tetrasomy type X" EXACT [MONDORULE:1, Orphanet:9] +synonym: "tetrasomy type X" EXACT [MONDORULE:1] xref: GARD:7754 {source="MONDO:GARD"} xref: ICD10CM:Q97.1 {source="Orphanet:9/attributed", source="Orphanet:9/ntbt", source="Orphanet:9"} xref: icd11.foundation:1181464236 {source="MONDO:equivalentTo"} @@ -442412,7 +442502,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:90002"} subset: orphanet_rare {source="Orphanet:90002"} subset: rare -synonym: "UCTD" EXACT ABBREVIATION [Orphanet:90002] +synonym: "UCTD" EXACT ABBREVIATION [NCIT:C116776, Orphanet:90002] synonym: "undifferentiated connective tissue disease" EXACT [NCIT:C116776] xref: GARD:19097 {source="MONDO:GARD"} xref: ICD10CM:M35.8 {source="Orphanet:90002", source="Orphanet:90002/ntbt"} @@ -442470,13 +442560,13 @@ comment: Editor note: Orphanet calls this brachydactyly, but this is implicitly subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:90025"} subset: otar {source="MONDO:OTAR"} -synonym: "chromosome 2q35 duplication syndrome" NARROW [DOID:11193, OMIM:185900] +synonym: "chromosome 2q35 duplication syndrome" NARROW [] synonym: "isolated syndactyly" RELATED [https://orcid.org/0000-0002-6601-2165] synonym: "nonsyndromic syndactyly" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "symphalangism" RELATED [DOID:11193] -synonym: "symphalangy" RELATED [DOID:11193] +synonym: "symphalangism" RELATED [] +synonym: "symphalangy" RELATED [] synonym: "syndactyly" RELATED [MONDO:ambiguous] -synonym: "webbing of digits" RELATED [DOID:11193] +synonym: "webbing of digits" RELATED [] xref: ICD10CM:Q70.0 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} xref: ICD10CM:Q70.1 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} xref: ICD10CM:Q70.2 {source="Orphanet:90025/specific", source="Orphanet:90025/btnt"} @@ -442506,7 +442596,7 @@ subset: ordo_disorder {source="Orphanet:90030"} subset: orphanet_rare {source="Orphanet:90030"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY" RELATED [OMIM:618660] +synonym: "HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY" RELATED [] xref: GARD:16784 {source="MONDO:GARD"} xref: ICD10CM:D55.1 {source="Orphanet:90030/attributed", source="Orphanet:90030/ntbt", source="Orphanet:90030"} xref: MEDGEN:1684855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -442562,7 +442652,7 @@ subset: orphanet_rare {source="Orphanet:90035"} subset: rare synonym: "Donath-Landsteiner hemolytic anaemia" EXACT OMO:0003005 [] synonym: "Donath-Landsteiner hemolytic anemia" EXACT [Orphanet:90035] -synonym: "Donath-Landsteiner syndrome" EXACT [Orphanet:90035] +synonym: "Donath-Landsteiner syndrome" EXACT [icd11.foundation:715111132, Orphanet:90035] synonym: "hemoglobinuria paroxysmal cold" RELATED [GARD:0007335] synonym: "PCH" EXACT ABBREVIATION [Orphanet:90035] xref: GARD:7335 {source="MONDO:GARD"} @@ -442626,14 +442716,14 @@ subset: gard_rare {source="GARD:6588", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:90038"} subset: rare -synonym: "D+HUS" EXACT [Orphanet:90038] +synonym: "D+HUS" EXACT [] synonym: "D-plus hemolytic uremic syndrome (D+HUS)" RELATED [GARD:0006241] -synonym: "hemolytic-uremic syndrome with diarrhea" EXACT [Orphanet:90038] +synonym: "hemolytic-uremic syndrome with diarrhea" EXACT [] synonym: "hemolytic-uremic syndrome with diarrhoea" EXACT OMO:0003005 [] synonym: "Shiga-like toxin-associated HUS" EXACT [Orphanet:90038] synonym: "STEC Hemolytic Uremic Syndrome" EXACT [NORD:1809] -synonym: "Sxt-HUS" EXACT [Orphanet:90038] -synonym: "typical hemolytic-uremic syndrome" EXACT [Orphanet:90038] +synonym: "Sxt-HUS" EXACT [] +synonym: "typical hemolytic-uremic syndrome" EXACT [] synonym: "typical HUS" EXACT [Orphanet:90038] xref: GARD:6588 {source="MONDO:GARD"} xref: ICD10CM:D59.3 {source="Orphanet:90038/e", source="Orphanet:90038"} @@ -442657,7 +442747,7 @@ subset: orphanet_rare {source="Orphanet:90039"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Hb-D disease" EXACT [DOID:5378] -synonym: "hemoglobin D disease" EXACT [DOID:5378, NCIT:C35344] +synonym: "hemoglobin D disease" EXACT [DOID:5378, NCIT:C35344, Orphanet:90039] xref: DOID:5378 {source="MONDO:equivalentTo"} xref: GARD:19103 {source="MONDO:GARD"} xref: ICD10CM:D58.2 {source="DOID:5378", source="Orphanet:90039", source="Orphanet:90039/attributed", source="Orphanet:90039/ntbt"} @@ -442683,11 +442773,11 @@ subset: orphanet_rare {source="Orphanet:90041"} subset: rare synonym: "Gaisbock's syndrome" EXACT [DOID:2838] synonym: "Gaisboeck's syndrome" RELATED [GARD:0008402] -synonym: "GaisböCK syndrome" RELATED [Orphanet:90041] +synonym: "GaisböCK syndrome" RELATED [] synonym: "polycythemia, emotional" EXACT [DOID:2838] synonym: "Pseudopolycythaemia" RELATED [GARD:0008402] synonym: "Pseudopolycythemia" RELATED [GARD:0008402] -synonym: "stress erythrocytosis" EXACT [Orphanet:90041] +synonym: "stress erythrocytosis" EXACT [icd11.foundation:533704171, Orphanet:90041] synonym: "stress polycythemia" EXACT [DOID:2838, MONDO:0002439, NCIT:C27174, Orphanet:90041] xref: DOID:2838 {source="MONDO:equivalentTo"} xref: GARD:19104 {source="MONDO:GARD"} @@ -442720,7 +442810,7 @@ subset: ordo_disorder {source="Orphanet:90060"} subset: orphanet_rare {source="Orphanet:90060"} subset: rare synonym: "diffuse alveolar haemorrhage (disease)" EXACT OMO:0003005 [] -synonym: "diffuse alveolar hemorrhage" EXACT [MONDO:ambiguous] +synonym: "diffuse alveolar hemorrhage" EXACT [MONDO:ambiguous, Orphanet:90060] synonym: "diffuse alveolar hemorrhage (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:19110 {source="MONDO:GARD"} xref: HP:0025420 {source="MONDO:otherHierarchy"} @@ -442736,7 +442826,7 @@ id: MONDO:0019541 name: obsolete non-infectious posterior uveitis subset: ordo_group_of_disorders {source="Orphanet:90061"} subset: otar {source="MONDO:OTAR"} -synonym: "non-infectious choroiditis" EXACT [Orphanet:90061] +synonym: "non-infectious choroiditis" EXACT [] xref: ICD10CM:H30.0 {source="Orphanet:90061", source="Orphanet:90061/ntbt"} xref: ICD10CM:H30.1 {source="Orphanet:90061", source="Orphanet:90061/ntbt"} xref: icd11.foundation:2140734738 {source="Orphanet:90061", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} @@ -442758,7 +442848,7 @@ subset: ordo_clinical_situation {source="Orphanet:90062"} subset: ordo_disorder {source="Orphanet:90062"} subset: orphanet_rare {source="Orphanet:90062"} subset: rare -synonym: "acute hepatic failure" EXACT [Orphanet:90062] +synonym: "acute hepatic failure" EXACT [NCIT:C84396, Orphanet:90062] synonym: "fulminant hepatic failure" EXACT [Orphanet:90062] xref: GARD:19112 {source="MONDO:GARD"} xref: ICD10CM:K72.0 {source="Orphanet:90062", source="Orphanet:90062/ntbt"} @@ -442843,7 +442933,7 @@ subset: ordo_disorder {source="Orphanet:901"} subset: orphanet_rare {source="Orphanet:901"} subset: rare synonym: "bullous cellulitis with eosinophilia" RELATED [GARD:0000329] -synonym: "eosinophilic cellulitis" EXACT [Orphanet:901] +synonym: "eosinophilic cellulitis" EXACT [icd11.foundation:1860796142, Orphanet:901] synonym: "Familial Eosinophilic Cellulitis" EXACT [NORD:1124] synonym: "Wells' syndrome" RELATED [GARD:0000329] xref: GARD:329 {source="MONDO:GARD"} @@ -442870,7 +442960,7 @@ subset: ordo_group_of_disorders {source="Orphanet:90114"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant intermediate Charcot-Marie-Tooth" RELATED [GARD:0012436] -synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease" EXACT [] +synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease" EXACT [Orphanet:90114] synonym: "CMTDI" EXACT ABBREVIATION [Orphanet:90114] synonym: "intermediate Charcot-Marie-Tooth disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:12436 {source="MONDO:GARD"} @@ -442938,9 +443028,9 @@ subset: ordo_disorder {source="Orphanet:90120"} subset: orphanet_rare {source="Orphanet:90120"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Charcot-Marie-Tooth disease type 6" EXACT [MONDO:0000856, Orphanet:90120] +synonym: "Charcot-Marie-Tooth disease type 6" EXACT [DOID:0080068, MONDO:0000856, Orphanet:90120] synonym: "CMT6" EXACT ABBREVIATION [Orphanet:90120] -synonym: "hereditary motor and sensory neuropathy type 6" EXACT [DOID:0080068] +synonym: "hereditary motor and sensory neuropathy type 6" EXACT [DOID:0080068, icd11.foundation:467894833, Orphanet:90120] synonym: "peripheral neuropathy and optic atrophy" EXACT [Orphanet:90120] xref: DOID:0080068 {source="MONDO:equivalentTo"} xref: GARD:16787 {source="MONDO:GARD"} @@ -443020,7 +443110,7 @@ subset: ordo_disorder {source="Orphanet:90159"} subset: orphanet_rare {source="Orphanet:90159"} subset: rare synonym: "panniculitis-induced localised lipodystrophy" RELATED OMO:0003005 [] -synonym: "panniculitis-induced localized lipodystrophy" RELATED [Orphanet:90159] +synonym: "panniculitis-induced localized lipodystrophy" RELATED [] xref: GARD:19128 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="Orphanet:90159/ntbt", source="Orphanet:90159"} xref: MEDGEN:1678538 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -443126,7 +443216,8 @@ subset: ordo_disorder {source="Orphanet:90283"} subset: orphanet_rare {source="Orphanet:90283"} subset: rare synonym: "intermittent cutaneous lupus" EXACT [Orphanet:90283] -synonym: "let" EXACT [NCIT:C117112] +synonym: "LET" EXACT ABBREVIATION [NCIT:C117112] +synonym: "let" EXACT [] synonym: "tumid lupus erythematosus" RELATED [GARD:0013003] xref: GARD:13003 {source="MONDO:GARD"} xref: ICD10CM:L93.2 {source="Orphanet:90283/ntbt", source="Orphanet:90283"} @@ -443172,18 +443263,18 @@ subset: ordo_disorder {source="Orphanet:90289"} subset: orphanet_rare {source="Orphanet:90289"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "circumscribed scleroderma" EXACT [DOID:8472, ICD9CM:701.0] +synonym: "circumscribed scleroderma" EXACT [DOID:8472, icd11.foundation:1430740369, ICD9CM:701.0] synonym: "localised fibrosing scleroderma" EXACT OMO:0003005 [] -synonym: "localised morphea" EXACT OMO:0003005 [] -synonym: "localised morphoea" EXACT OMO:0003005 [] +synonym: "localised morphea" EXACT OMO:0003005 [DOID:8472] +synonym: "localised morphoea" EXACT OMO:0003005 [DOID:8472] synonym: "localised scleroderma (disorder) [ambiguous]" EXACT OMO:0003005 [] synonym: "localized fibrosing scleroderma" EXACT [Orphanet:90289] synonym: "localized morphea" EXACT [DOID:8472] -synonym: "localized morphoea" EXACT [DOID:8472] -synonym: "localized scleroderma" EXACT [MONDO:0004581] -synonym: "localized scleroderma (disorder) [ambiguous]" EXACT [DOID:8472] -synonym: "morphea" EXACT [DOID:8472] -synonym: "Scleroderma, circumscribed or localised" EXACT OMO:0003005 [] +synonym: "localized morphoea" EXACT [] +synonym: "localized scleroderma" EXACT [DOID:8472, MONDO:0004581, NCIT:C72069, Orphanet:90289] +synonym: "localized scleroderma (disorder) [ambiguous]" EXACT [] +synonym: "morphea" EXACT [DOID:8472, NCIT:C72069] +synonym: "Scleroderma, circumscribed or localised" EXACT OMO:0003005 [DOID:8472] synonym: "Scleroderma, circumscribed or localized" EXACT [DOID:8472] synonym: "Scleroderma, localised" RELATED OMO:0003005 [] synonym: "Scleroderma, localized" RELATED [GARD:0007058] @@ -443215,11 +443306,11 @@ subset: rare synonym: "calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia" RELATED [GARD:0012430] synonym: "calcinosis Raynaud phenomenon sclerodactyly telangiectasia" RELATED [MESH:D017675] synonym: "calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome" RELATED [MESH:D017675] -synonym: "calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome" EXACT [Orphanet:90290] +synonym: "calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome" EXACT [] synonym: "calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia" RELATED [MESH:D017675] synonym: "CRST syndrome" NARROW [MESH:D017675] synonym: "CRST syndromes" NARROW [MESH:D017675] -synonym: "lcSSc" BROAD [NCIT:C70646] +synonym: "lcSSc" BROAD [] synonym: "limited cutaneous Systemic Scleroderma" EXACT [NCIT:C70646] synonym: "limited cutaneous Systemic sclerosis" EXACT [NCIT:C70646] synonym: "phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud" RELATED [MESH:D017675] @@ -443260,17 +443351,17 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital von willebrand disease" RELATED [] synonym: "congenital von willebrand's disease" EXACT [] -synonym: "hereditary von Willebrand disease" EXACT CLINGEN_LABEL [] +synonym: "hereditary von Willebrand disease" EXACT CLINGEN_LABEL [Orphanet:903] synonym: "hereditary von Willebrand disease (hereditary or acquired)" EXACT [MONDO:patterns/hereditary] synonym: "vascular haemophilia" BROAD OMO:0003005 [] -synonym: "vascular hemophilia" BROAD [DOID:12531] +synonym: "vascular hemophilia" BROAD [] synonym: "vascular pseudohemophilia" EXACT [DOID:12531] -synonym: "von Willebrand disease" BROAD [DOID:12531, Orphanet:903] -synonym: "von Willebrand disorder" BROAD [DOID:12531] -synonym: "von Willebrand's disease" RELATED [DOID:12531] -synonym: "von Willebrand's-Jurgens' disease" BROAD [DOID:12531] +synonym: "von Willebrand disease" BROAD [] +synonym: "von Willebrand disorder" BROAD [] +synonym: "von Willebrand's disease" RELATED [] +synonym: "von Willebrand's-Jurgens' disease" BROAD [] synonym: "von Willebrand-Jrgens disease" EXACT [DOID:12531] -synonym: "von Willebrand-Jurgens disease" BROAD [DOID:12531] +synonym: "von Willebrand-Jurgens disease" BROAD [] xref: DOID:12531 {source="MONDO:equivalentTo"} xref: GARD:7867 {source="MONDO:GARD"} xref: ICD10CM:D68.0 {source="Orphanet:903/specific", source="Orphanet:903", source="DOID:12531", source="Orphanet:903/e"} @@ -443313,7 +443404,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype {source="Orphanet:90309"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EDS I" EXACT [Orphanet:90309] +synonym: "EDS I" EXACT [] synonym: "EDSCL1" EXACT ABBREVIATION [OMIM:130000] synonym: "Ehlers-Danlos syndrome, classic type, 1" EXACT CLINGEN_LABEL [OMIM:130000] synonym: "Ehlers-Danlos syndrome, type 1" EXACT [DOID:14720] @@ -443345,16 +443436,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype {source="Orphanet:90318"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EDS II" EXACT [Orphanet:90318] -synonym: "EDS II, formerly" RELATED [OMIM:130010] +synonym: "EDS II" EXACT [] +synonym: "EDS II, formerly" RELATED [] synonym: "EDSCL2" EXACT ABBREVIATION [OMIM:130010] -synonym: "Ehlers Danlos syndrome, mild Classic type" RELATED [OMIM:130010] -synonym: "Ehlers Danlos syndrome, mild Classic type, formerly" RELATED [OMIM:130010] -synonym: "Ehlers Danlos syndrome, mitis type" RELATED [OMIM:130010] -synonym: "Ehlers Danlos syndrome, mitis type, formerly" RELATED [OMIM:130010] +synonym: "Ehlers Danlos syndrome, mild Classic type" RELATED [] +synonym: "Ehlers Danlos syndrome, mild Classic type, formerly" RELATED [] +synonym: "Ehlers Danlos syndrome, mitis type" RELATED [] +synonym: "Ehlers Danlos syndrome, mitis type, formerly" RELATED [] synonym: "Ehlers-Danlos syndrome, classic type, 2" EXACT CLINGEN_LABEL [OMIM:130010] -synonym: "Ehlers-Danlos syndrome, type Ii" RELATED [OMIM:130010] -synonym: "Ehlers-Danlos syndrome, type Ii, formerly" RELATED [OMIM:130010] +synonym: "Ehlers-Danlos syndrome, type Ii" RELATED [] +synonym: "Ehlers-Danlos syndrome, type Ii, formerly" RELATED [] xref: DOID:0080726 {source="MONDO:equivalentTo"} xref: ICD10CM:Q79.6 {source="Orphanet:90318/attributed", source="Orphanet:90318/ntbt", source="Orphanet:90318"} xref: MEDGEN:120628 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -443380,16 +443471,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:90321"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cockayne syndrome A" EXACT [MONDO:0008997, MONDO:Lexical, OMIM:216400] +synonym: "Cockayne syndrome A" EXACT [DOID:0080907, MONDO:0008997, MONDO:Lexical, OMIM:216400] synonym: "Cockayne syndrome caused by mutation in ERCC8" EXACT [MONDO:design_pattern] synonym: "Cockayne syndrome classic form" RELATED [GARD:0001415] synonym: "Cockayne syndrome classical" RELATED [GARD:0001415] -synonym: "Cockayne syndrome type 1" EXACT CLINGEN_LABEL [] +synonym: "Cockayne syndrome type 1" EXACT CLINGEN_LABEL [DOID:0080907, icd11.foundation:1271368066, Orphanet:90321] synonym: "Cockayne syndrome type A" RELATED [GARD:0001415] -synonym: "Cockayne syndrome type a" EXACT [MONDORULE:1, OMIM:216400] -synonym: "Cockayne syndrome type I" EXACT [GARD:0001415, Orphanet:90321] -synonym: "Cockayne syndrome, type A" EXACT [OMIM:216400, OMIM:genemap2] -synonym: "CSA" RELATED ABBREVIATION [MONDO:Lexical, OMIM:216400] +synonym: "Cockayne syndrome type a" EXACT [MONDORULE:1, NCIT:C135725] +synonym: "Cockayne syndrome type I" EXACT [DOID:0080907, GARD:0001415, Orphanet:90321] +synonym: "Cockayne syndrome, type A" EXACT [] +synonym: "CSA" RELATED ABBREVIATION [MONDO:Lexical] synonym: "ERCC8 Cockayne syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080907 {source="MONDO:equivalentTo"} xref: GARD:1415 {source="MONDO:GARD"} @@ -443421,12 +443512,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:90322"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cockayne syndrome B" EXACT [MONDO:0007582, MONDO:Lexical, OMIM:133540] -synonym: "Cockayne syndrome type 2" EXACT [GARD:0001420] -synonym: "Cockayne syndrome type B" EXACT [MONDORULE:1, OMIM:133540] -synonym: "Cockayne syndrome type II" EXACT [Orphanet:90322] -synonym: "Cockayne syndrome, type B" EXACT [OMIM:133540, OMIM:genemap2] -synonym: "CSB" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133540] +synonym: "Cockayne syndrome B" EXACT [DOID:0080908, MONDO:0007582, MONDO:Lexical, OMIM:133540] +synonym: "Cockayne syndrome type 2" EXACT [GARD:0001420, icd11.foundation:1604701958, Orphanet:90322] +synonym: "Cockayne syndrome type B" EXACT [MONDORULE:1, NCIT:C135726] +synonym: "Cockayne syndrome type II" EXACT [DOID:0080908, Orphanet:90322] +synonym: "Cockayne syndrome, type B" EXACT [] +synonym: "CSB" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080908 {source="MONDO:equivalentTo"} xref: GARD:1420 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:90322", source="Orphanet:90322/attributed", source="Orphanet:90322/ntbt"} @@ -443483,8 +443574,8 @@ subset: orphanet_rare {source="Orphanet:90349"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ARCL1" EXACT ABBREVIATION [Orphanet:90349] -synonym: "autosomal recessive cutis laxa type 1" EXACT [DOID:0070144] -synonym: "autosomal recessive cutis laxa type I" RELATED [DOID:0070144] +synonym: "autosomal recessive cutis laxa type 1" EXACT [DOID:0070144, Orphanet:90349] +synonym: "autosomal recessive cutis laxa type I" RELATED [] synonym: "autosomal recessive cutis laxa with severe systemic involvement" EXACT [Orphanet:90349] synonym: "autosomal recessive cutis laxa, pulmonary emphysema type" EXACT [Orphanet:90349] synonym: "cutis laxa, autosomal recessive type 1" RELATED [GARD:0008480] @@ -443740,14 +443831,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "nonsyndromic deafness, X-linked" NARROW [MONDO:patterns/x_linked] synonym: "nonsyndromic genetic deafness, X-linked" NARROW [MONDO:patterns/x_linked] -synonym: "X-linked deafness" NARROW [DOID:0050566] -synonym: "X-linked isolated neurosensory deafness type DFN" NARROW [Orphanet:90625] +synonym: "X-linked deafness" NARROW [] +synonym: "X-linked isolated neurosensory deafness type DFN" NARROW [] synonym: "X-linked isolated neurosensory hearing loss type DFN" EXACT [Orphanet:90625] -synonym: "X-linked isolated sensorineural deafness type DFN" NARROW [Orphanet:90625] +synonym: "X-linked isolated sensorineural deafness type DFN" NARROW [] synonym: "X-linked isolated sensorineural hearing loss type DFN" EXACT [Orphanet:90625] -synonym: "X-linked non-syndromic neurosensory deafness type DFN" NARROW [Orphanet:90625] +synonym: "X-linked non-syndromic neurosensory deafness type DFN" NARROW [] synonym: "X-linked non-syndromic neurosensory hearing loss type DFN" EXACT [Orphanet:90625] -synonym: "X-linked non-syndromic sensorineural deafness type DFN" NARROW [Orphanet:90625] +synonym: "X-linked non-syndromic sensorineural deafness type DFN" NARROW [] synonym: "X-linked non-syndromic sensorineural hearing loss type DFN" EXACT [Orphanet:90625] synonym: "X-linked nonsyndromic deafness" NARROW [] synonym: "X-linked nonsyndromic genetic deafness" NARROW [MONDO:design_pattern] @@ -443777,22 +443868,22 @@ subset: ordo_etiological_subtype {source="Orphanet:90635"} subset: ordo_subtype_of_a_disorder {source="Orphanet:90635"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant deafness" BROAD [DOID:0050564] +synonym: "autosomal dominant deafness" BROAD [] synonym: "autosomal dominant isolated deafness" NARROW [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss] -synonym: "autosomal dominant isolated neurosensory deafness type DFNA" NARROW [Orphanet:90635] +synonym: "autosomal dominant isolated neurosensory deafness type DFNA" NARROW [] synonym: "autosomal dominant isolated neurosensory hearing loss type DFNA" EXACT [Orphanet:90635] -synonym: "autosomal dominant isolated sensorineural deafness type DFNA" NARROW [Orphanet:90635] +synonym: "autosomal dominant isolated sensorineural deafness type DFNA" NARROW [] synonym: "autosomal dominant isolated sensorineural hearing loss type DFNA" EXACT [Orphanet:90635] -synonym: "autosomal dominant non-syndromic neurosensory deafness type DFNA" NARROW [Orphanet:90635] +synonym: "autosomal dominant non-syndromic neurosensory deafness type DFNA" NARROW [] synonym: "autosomal dominant non-syndromic neurosensory hearing loss type DFNA" EXACT [Orphanet:90635] -synonym: "autosomal dominant non-syndromic sensorineural deafness type DFNA" NARROW [Orphanet:90635] +synonym: "autosomal dominant non-syndromic sensorineural deafness type DFNA" NARROW [] synonym: "autosomal dominant non-syndromic sensorineural hearing loss type DFNA" EXACT [Orphanet:90635] -synonym: "autosomal dominant nonsyndromic deafness" NARROW [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss, OMIMPS:124900] +synonym: "autosomal dominant nonsyndromic deafness" NARROW [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss] synonym: "autosomal dominant nonsyndromic genetic deafness" NARROW [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic hearing impairment" EXACT DEPRECATED [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss] synonym: "autosomal dominant nonsyndromic hearing loss" EXACT CLINGEN_LABEL [] synonym: "autosomal dominant nonsyndromic hearing loss and deafness" NARROW [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss] -synonym: "deafness, autosomal dominant" NARROW [OMIMPS:124900] +synonym: "deafness, autosomal dominant" NARROW [] synonym: "nonsyndromic deafness, autosomal dominant" NARROW [MONDO:patterns/autosomal_dominant] synonym: "nonsyndromic genetic deafness, autosomal dominant" NARROW [MONDO:patterns/autosomal_dominant] xref: DOID:0050564 {source="MONDO:equivalentTo"} @@ -443825,13 +443916,13 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:90636"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "autosomal recessive isolated neurosensory deafness type DFNB" NARROW [Orphanet:90636] -synonym: "autosomal recessive isolated sensorineural deafness type DFNB" NARROW [Orphanet:90636] -synonym: "autosomal recessive non-syndromic neurosensory deafness type DFNB" NARROW [Orphanet:90636] -synonym: "autosomal recessive non-syndromic sensorineural deafness type DFNB" NARROW [Orphanet:90636] -synonym: "autosomal recessive nonsyndromic deafness" NARROW [OMIM:607197] +synonym: "autosomal recessive isolated neurosensory deafness type DFNB" NARROW [] +synonym: "autosomal recessive isolated sensorineural deafness type DFNB" NARROW [] +synonym: "autosomal recessive non-syndromic neurosensory deafness type DFNB" NARROW [] +synonym: "autosomal recessive non-syndromic sensorineural deafness type DFNB" NARROW [] +synonym: "autosomal recessive nonsyndromic deafness" NARROW [] synonym: "autosomal recessive nonsyndromic genetic deafness" NARROW [MONDO:design_pattern] -synonym: "deafness, autosomal recessive" NARROW [MONDO:0011791, OMIM:607197, OMIMPS:220290] +synonym: "deafness, autosomal recessive" NARROW [MONDO:0011791] synonym: "deafness, neurosensory nonsyndromic recessive, DFN" NARROW [GARD:0001710] synonym: "hearing loss, autosomal recessive" EXACT CLINGEN_LABEL [] synonym: "nonsyndromic deafness, autosomal recessive" NARROW [MONDO:patterns/autosomal_recessive] @@ -443929,7 +444020,7 @@ replaced_by: MONDO:0002145 id: MONDO:0019593 name: obsolete 46,XX disorder of sex development induced by fetal androgens excess subset: ordo_group_of_disorders {source="Orphanet:90776"} -synonym: "46,XX DSD induced by fetal androgens excess" EXACT [Orphanet:90776] +synonym: "46,XX DSD induced by fetal androgens excess" EXACT [] synonym: "46,XX DSD induced by foetal androgens excess" EXACT OMO:0003005 [] xref: ICD10CM:E25.0 {source="Orphanet:90776", source="Orphanet:90776/attributed", source="Orphanet:90776/ntbt"} xref: Orphanet:90776 {source="MONDO:obsoleteEquivalent"} @@ -443945,7 +444036,7 @@ id: MONDO:0019594 name: obsolete 46,XY disorder of sex development due to a testosterone synthesis defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:90783"} -synonym: "46,XY DSD due to a testosterone synthesis defect" EXACT [Orphanet:90783] +synonym: "46,XY DSD due to a testosterone synthesis defect" EXACT [] xref: Orphanet:90783 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -443957,7 +444048,7 @@ id: MONDO:0019595 name: obsolete 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:90786"} -synonym: "46,XY DSD due to adrenal and testicular steroidogenesis defect" EXACT [Orphanet:90786] +synonym: "46,XY DSD due to adrenal and testicular steroidogenesis defect" EXACT [] xref: Orphanet:90786 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -443969,7 +444060,7 @@ id: MONDO:0019596 name: obsolete 46,XY disorder of sex development due to testicular steroidogenesis defect comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: 46,XY disorder of sex development of endocrine origin' subset: ordo_group_of_disorders {source="Orphanet:90787"} -synonym: "46,XY DSD due to testicular steroidogenesis defect" EXACT [Orphanet:90787] +synonym: "46,XY DSD due to testicular steroidogenesis defect" EXACT [] xref: ICD10CM:E29.1 {source="Orphanet:90787", source="Orphanet:90787/attributed", source="Orphanet:90787/ntbt"} xref: Orphanet:90787 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -444023,7 +444114,7 @@ subset: orphanet_rare {source="Orphanet:910"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "angioma pigmentosum atrophicum" EXACT [NCIT:C3452] -synonym: "atrophoderma pigmentosum" EXACT [NCIT:C3452] +synonym: "atrophoderma pigmentosum" EXACT [icd11.foundation:1243068849, NCIT:C3452] synonym: "Kaposi dermatosis" EXACT [NCIT:C3452] synonym: "Kaposi disease" EXACT [NCIT:C3452] synonym: "melanosis lenticularis progressiva" EXACT [NCIT:C3452] @@ -444031,7 +444122,7 @@ synonym: "pigmented epitheliomatosis" EXACT [NCIT:C3452] synonym: "xeroderma of Kaposi" EXACT [NCIT:C3452] synonym: "xeroderma pigmentosa" RELATED [GARD:0007910] synonym: "xeroderma pigmentosum syndrome" EXACT [NCIT:C3452] -synonym: "XP" EXACT ABBREVIATION [Orphanet:910] +synonym: "XP" EXACT ABBREVIATION [] xref: DOID:0050427 {source="MONDO:equivalentTo"} xref: GARD:7910 {source="MONDO:GARD"} xref: ICD10CM:Q82.1 {source="Orphanet:910", source="MONDO:equivalentTo", source="DOID:0050427", source="Orphanet:910/specific", source="Orphanet:910/e"} @@ -444060,8 +444151,8 @@ id: MONDO:0019601 name: obsolete autosomal recessive axonal hereditary motor and sensory neuropathy def: "OBSOLETE. Autosomal recessive form of axonal hereditary motor and sensory neuropathy." [MONDO:patterns/autosomal_recessive] subset: ordo_group_of_disorders {source="Orphanet:91024"} -synonym: "AR-CMT2" EXACT [Orphanet:91024] -synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2" EXACT [Orphanet:91024] +synonym: "AR-CMT2" EXACT [] +synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2" EXACT [] synonym: "axonal hereditary motor and sensory neuropathy, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: ICD10CM:G60.0 {source="Orphanet:91024/inclusion", source="Orphanet:91024", source="Orphanet:91024/ntbt"} xref: Orphanet:91024 {source="MONDO:obsoleteEquivalent"} @@ -444075,7 +444166,7 @@ id: MONDO:0019602 name: obsolete other inborn metabolic disease subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:91088"} -synonym: "other metabolic disease" RELATED [Orphanet:91088] +synonym: "other metabolic disease" RELATED [] xref: Orphanet:91088 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2662" xsd:anyURI @@ -444176,7 +444267,7 @@ is_a: MONDO:0011429 {source="Orphanet:91140"} ! juvenile idiopathic arthritis id: MONDO:0019608 name: obsolete 46,XX disorder of sex development induced by maternal-derived androgen subset: ordo_group_of_disorders {source="Orphanet:91144"} -synonym: "46,XX DSD induced by maternal-derived androgen" EXACT [Orphanet:91144] +synonym: "46,XX DSD induced by maternal-derived androgen" EXACT [] xref: ICD10CM:Q56.2 {source="Orphanet:91144/ntbt", source="Orphanet:91144"} xref: icd11.foundation:293874628 {source="MONDO:obsoleteEquivalent", source="Orphanet:91144", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:91144 {source="MONDO:obsoleteEquivalent"} @@ -444200,10 +444291,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebrohepatorenal syndrome" EXACT [DOID:905, Orphanet:912] synonym: "congenital iron overload" EXACT [DOID:905] -synonym: "peroxisome biogenesis disorder" RELATED EXCLUDE [DOID:905] +synonym: "peroxisome biogenesis disorder" RELATED EXCLUDE [] synonym: "Zellweger leukodystrophy" RELATED [GARD:0007917] synonym: "Zellweger spectrum disorders" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] -synonym: "Zellweger syndrome" EXACT [https://github.com/monarch-initiative/mondo/issues/2632, https://www.clinicalgenome.org/affiliation/40049/, Orphanet:912] +synonym: "Zellweger syndrome" EXACT [DOID:905, https://github.com/monarch-initiative/mondo/issues/2632, https://www.clinicalgenome.org/affiliation/40049/, ICD10CM:E71.510, NCIT:C85239, Orphanet:912] synonym: "ZS" EXACT ABBREVIATION [Orphanet:912] synonym: "ZWS" EXACT ABBREVIATION [GARD:0007917] xref: DOID:905 {source="MONDO:equivalentTo"} @@ -444236,14 +444327,14 @@ subset: ordo_disorder {source="Orphanet:913"} subset: orphanet_rare {source="Orphanet:913"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gastrinoma" RELATED [Orphanet:913] +synonym: "gastrinoma" RELATED [] synonym: "pancreatic ulcerogenic tumor syndrome" RELATED [GARD:0007918] synonym: "pancreatic ulcerogenic tumour syndrome" RELATED OMO:0003005 [] synonym: "Z E syndrome" RELATED [GARD:0007918] synonym: "Z-E syndrome" RELATED [] synonym: "ZES" RELATED ABBREVIATION [GARD:0007918] synonym: "Zollinger Ellison syndrome" EXACT [NCIT:C3453] -synonym: "Zollinger-Ellison syndrome" EXACT [MONDO:ambiguous, NCIT:C3453] +synonym: "Zollinger-Ellison syndrome" EXACT [DOID:0050782, icd11.foundation:375645550, MONDO:ambiguous, NCIT:C3453, Orphanet:913] synonym: "Zollinger-Ellison syndrome (disease)" EXACT [MONDO:0006020] xref: DOID:0050782 {source="MONDO:equivalentTo", source="EFO:0007549"} xref: EFO:0007549 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -444284,41 +444375,41 @@ subset: orphanet_rare {source="Orphanet:91347"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "pituitary thyrotrophic adenoma" EXACT [Orphanet:91347] -synonym: "thyroid stimulating hormone producing adenoma of pituitary" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone producing adenoma of pituitary gland" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone producing adenoma of the pituitary" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone producing adenoma of the pituitary gland" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone producing pituitary adenoma" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone producing pituitary gland adenoma" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone secreting adenoma of pituitary" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone secreting adenoma of pituitary gland" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone secreting adenoma of the pituitary" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone secreting adenoma of the pituitary gland" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone secreting pituitary adenoma" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone secreting pituitary gland adenoma" EXACT [NCIT:C8011] -synonym: "thyroid stimulating hormone-producing adenoma" EXACT [NCIT:C8011] +synonym: "thyroid stimulating hormone producing adenoma of pituitary" EXACT [] +synonym: "thyroid stimulating hormone producing adenoma of pituitary gland" EXACT [] +synonym: "thyroid stimulating hormone producing adenoma of the pituitary" EXACT [] +synonym: "thyroid stimulating hormone producing adenoma of the pituitary gland" EXACT [] +synonym: "thyroid stimulating hormone producing pituitary adenoma" EXACT [] +synonym: "thyroid stimulating hormone producing pituitary gland adenoma" EXACT [] +synonym: "thyroid stimulating hormone secreting adenoma of pituitary" EXACT [] +synonym: "thyroid stimulating hormone secreting adenoma of pituitary gland" EXACT [] +synonym: "thyroid stimulating hormone secreting adenoma of the pituitary" EXACT [] +synonym: "thyroid stimulating hormone secreting adenoma of the pituitary gland" EXACT [] +synonym: "thyroid stimulating hormone secreting pituitary adenoma" EXACT [] +synonym: "thyroid stimulating hormone secreting pituitary gland adenoma" EXACT [] +synonym: "thyroid stimulating hormone-producing adenoma" EXACT [] synonym: "thyroid stimulating hormone-secreting pituitary adenoma" EXACT [Orphanet:91347] -synonym: "thyrotrope adenoma" EXACT [NCIT:C8011] -synonym: "thyrotroph adenoma" EXACT [NCIT:C8011, Orphanet:91347] -synonym: "thyrotrophic adenoma" EXACT [NCIT:C8011] -synonym: "thyrotropin producing pituitary gland adenoma" EXACT [NCIT:C8011] -synonym: "thyrotropinoma" EXACT [NCIT:C8011] -synonym: "TSH producing adenoma of pituitary" EXACT [NCIT:C8011] -synonym: "TSH producing adenoma of pituitary gland" EXACT [NCIT:C8011] -synonym: "TSH producing adenoma of the pituitary" EXACT [NCIT:C8011] -synonym: "TSH producing adenoma of the pituitary gland" EXACT [NCIT:C8011] -synonym: "TSH producing pituitary adenoma" EXACT [NCIT:C8011] -synonym: "TSH producing pituitary gland adenoma" EXACT [NCIT:C8011] -synonym: "TSH secreting adenoma of pituitary" EXACT [NCIT:C8011] -synonym: "TSH secreting adenoma of pituitary gland" EXACT [NCIT:C8011] -synonym: "TSH secreting adenoma of the pituitary" EXACT [NCIT:C8011] -synonym: "TSH secreting adenoma of the pituitary gland" EXACT [NCIT:C8011] -synonym: "TSH secreting pituitary adenoma" EXACT [NCIT:C8011] -synonym: "TSH secreting pituitary gland adenoma" EXACT [NCIT:C8011] +synonym: "thyrotrope adenoma" EXACT [] +synonym: "thyrotroph adenoma" EXACT [icd11.foundation:125504731, Orphanet:91347] +synonym: "thyrotrophic adenoma" EXACT [] +synonym: "thyrotropin producing pituitary gland adenoma" EXACT [] +synonym: "thyrotropinoma" EXACT [] +synonym: "TSH producing adenoma of pituitary" EXACT [] +synonym: "TSH producing adenoma of pituitary gland" EXACT [] +synonym: "TSH producing adenoma of the pituitary" EXACT [] +synonym: "TSH producing adenoma of the pituitary gland" EXACT [] +synonym: "TSH producing pituitary adenoma" EXACT [] +synonym: "TSH producing pituitary gland adenoma" EXACT [] +synonym: "TSH secreting adenoma of pituitary" EXACT [] +synonym: "TSH secreting adenoma of pituitary gland" EXACT [] +synonym: "TSH secreting adenoma of the pituitary" EXACT [] +synonym: "TSH secreting adenoma of the pituitary gland" EXACT [] +synonym: "TSH secreting pituitary adenoma" EXACT [] +synonym: "TSH secreting pituitary gland adenoma" EXACT [] synonym: "TSH-oma" EXACT [Orphanet:91347] -synonym: "TSH-producing adenoma" EXACT [NCIT:C8011] -synonym: "TSH-producing pituitary gland adenoma" EXACT [NCIT:C8011] -synonym: "TSHoma" EXACT [NCIT:C8011] +synonym: "TSH-producing adenoma" EXACT [] +synonym: "TSH-producing pituitary gland adenoma" EXACT [] +synonym: "TSHoma" EXACT [] xref: GARD:19157 {source="MONDO:GARD"} xref: ICD10CM:D35.2 {source="MONDO:relatedTo", source="Orphanet:91347/ntbt", source="Orphanet:91347"} xref: icd11.foundation:125504731 {source="MONDO:equivalentTo"} @@ -444366,20 +444457,20 @@ synonym: "functionless adenoma of pituitary" EXACT [NCIT:C4348] synonym: "functionless adenoma of pituitary gland" EXACT [NCIT:C4348] synonym: "functionless adenoma of the pituitary" EXACT [NCIT:C4348] synonym: "functionless adenoma of the pituitary gland" EXACT [NCIT:C4348] -synonym: "functionless pituitary adenoma" EXACT [NCIT:C4348] +synonym: "functionless pituitary adenoma" EXACT [DOID:5715, NCIT:C4348] synonym: "functionless pituitary gland adenoma" EXACT [NCIT:C4348] synonym: "NFPA" EXACT ABBREVIATION [Orphanet:91349] synonym: "non-functioning adenoma of pituitary" EXACT [NCIT:C4348] synonym: "non-functioning adenoma of pituitary gland" EXACT [NCIT:C4348] synonym: "non-functioning adenoma of the pituitary" EXACT [NCIT:C4348] synonym: "non-functioning adenoma of the pituitary gland" EXACT [NCIT:C4348] -synonym: "non-functioning neoplasm of the pituitary" RELATED EXCLUDE [DOID:5715] -synonym: "non-functioning pituitary adenoma" EXACT [NCIT:C4348] +synonym: "non-functioning neoplasm of the pituitary" RELATED EXCLUDE [] +synonym: "non-functioning pituitary adenoma" EXACT [icd11.foundation:1197752358, NCIT:C4348, Orphanet:91349] synonym: "non-functioning pituitary gland adenoma" EXACT [NCIT:C4348] synonym: "non-secretory adenoma of pituitary" EXACT [NCIT:C4348] synonym: "non-secretory adenoma of pituitary gland" EXACT [NCIT:C4348] synonym: "non-secretory adenoma of the pituitary" EXACT [NCIT:C4348] -synonym: "non-secretory adenoma of the pituitary gland" EXACT [NCIT:C4348] +synonym: "non-secretory adenoma of the pituitary gland" EXACT [DOID:5715, NCIT:C4348] synonym: "non-secretory pituitary adenoma" EXACT [NCIT:C4348] synonym: "non-secretory pituitary gland adenoma" EXACT [NCIT:C4348] synonym: "nonfunctional pituitary gland adenoma" EXACT [NCIT:C4348] @@ -444406,7 +444497,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:91350"} subset: orphanet_rare {source="Orphanet:91350"} subset: rare -synonym: "pituitary deficiency due to Rathke's cleft cysts" RELATED [Orphanet:91350] +synonym: "pituitary deficiency due to Rathke's cleft cysts" RELATED [] xref: GARD:19160 {source="MONDO:GARD"} xref: ICD10CM:E23.0 {source="Orphanet:91350/ntbt", source="MONDO:relatedTo", source="Orphanet:91350"} xref: MEDGEN:1676440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -444467,7 +444558,7 @@ synonym: "postpartum hypopituitarism" EXACT [DOID:9476, NCIT:C35300] synonym: "postpartum panhypopituitarism" RELATED [GARD:0007630] synonym: "postpartum panhypopituitary syndrome" RELATED [GARD:0007630] synonym: "postpartum pituitary necrosis" RELATED [GARD:0007630] -synonym: "Sheehan's syndrome" EXACT [DOID:9476] +synonym: "Sheehan's syndrome" EXACT [DOID:9476, NCIT:C35300] xref: DOID:9476 {source="MONDO:equivalentTo"} xref: GARD:7630 {source="MONDO:GARD"} xref: ICD10CM:E23.0 {source="MONDO:relatedTo", source="Orphanet:91355", source="DOID:9476", source="Orphanet:91355/ntbt"} @@ -444553,8 +444644,8 @@ subset: ordo_disorder {source="Orphanet:91364"} subset: orphanet_rare {source="Orphanet:91364"} subset: rare synonym: "non-specific idiopathic interstitial pneumonia" EXACT [Orphanet:91364] -synonym: "nonspecific interstitial pneumonia" EXACT [MONDO:0002431] -synonym: "NSIP" EXACT ABBREVIATION [DOID:2801, Orphanet:91364] +synonym: "nonspecific interstitial pneumonia" EXACT [DOID:2801, MONDO:0002431, NCIT:C35717] +synonym: "NSIP" EXACT ABBREVIATION [DOID:2801, NCIT:C35717, Orphanet:91364] xref: DOID:2801 {source="MONDO:equivalentTo"} xref: GARD:19167 {source="MONDO:GARD"} xref: ICD10CM:J84.8 {source="Orphanet:91364/ntbt", source="Orphanet:91364"} @@ -444581,9 +444672,9 @@ synonym: "familial angioneurotic edema" EXACT [Orphanet:91378] synonym: "familial angioneurotic oedema" EXACT OMO:0003005 [] synonym: "HAE" EXACT ABBREVIATION [Orphanet:91378] synonym: "HANE" EXACT ABBREVIATION [DOID:14735] -synonym: "hereditary angioedema" EXACT [DOID:14735, MONDO:patterns/hereditary] -synonym: "hereditary angioneurotic edema" EXACT [Orphanet:91378] -synonym: "hereditary angioneurotic oedema" EXACT OMO:0003005 [] +synonym: "hereditary angioedema" EXACT [DOID:14735, icd11.foundation:795969334, MONDO:patterns/hereditary, NCIT:C84758, Orphanet:91378] +synonym: "hereditary angioneurotic edema" EXACT [DOID:14735, Orphanet:91378] +synonym: "hereditary angioneurotic oedema" EXACT OMO:0003005 [icd11.foundation:795969334] synonym: "hereditary bradykinine-induced angioedema" EXACT [Orphanet:91378] synonym: "hereditary non histamine-induced angioedema" EXACT [Orphanet:91378] xref: DOID:14735 {source="MONDO:equivalentTo"} @@ -444616,9 +444707,9 @@ subset: ordo_group_of_disorders {source="Orphanet:91385"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "AAE" EXACT ABBREVIATION [Orphanet:91385] -synonym: "acquired angioedema" EXACT [MONDO:patterns/acquired] +synonym: "acquired angioedema" EXACT [DOID:0080941, icd11.foundation:1078767412, MONDO:patterns/acquired, Orphanet:91385] synonym: "acquired angioneurotic edema" EXACT [Orphanet:91385] -synonym: "acquired angioneurotic oedema" EXACT OMO:0003005 [] +synonym: "acquired angioneurotic oedema" EXACT OMO:0003005 [icd11.foundation:1078767412] synonym: "acquired bradykinine-induced angioedema" EXACT [Orphanet:91385] synonym: "acquired C1 inhibitor deficiency" EXACT [Orphanet:91385] synonym: "acquired non histamine-induced angioedema" EXACT [Orphanet:91385] @@ -444649,15 +444740,15 @@ subset: orphanet_rare {source="Orphanet:91387"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "annuloaortic ectasia" RELATED [Orphanet:229] -synonym: "cystic medial necrosis of aorta" RELATED [Orphanet:229] +synonym: "annuloaortic ectasia" RELATED [] +synonym: "cystic medial necrosis of aorta" RELATED [] synonym: "Erdheim cystic medial necrosis of aorta" RELATED [GARD:0001654] -synonym: "Erdheim disease" EXACT [GARD:0001654, Orphanet:229] +synonym: "Erdheim disease" EXACT [GARD:0001654] synonym: "familial aortic aneurysm" RELATED [GARD:0002249] -synonym: "familial aortic dissection" EXACT [GARD:0001654, OMIMPS:607086, Orphanet:229] +synonym: "familial aortic dissection" EXACT [GARD:0001654] synonym: "familial TAAD" EXACT [Orphanet:91387] synonym: "familial thoracic aortic aneurysm" RELATED [GARD:0002249] -synonym: "familial thoracic aortic aneurysm and aortic dissection" EXACT CLINGEN_LABEL [] +synonym: "familial thoracic aortic aneurysm and aortic dissection" EXACT CLINGEN_LABEL [Orphanet:91387] synonym: "familial thoracic aortic aneurysm and dissection" RELATED [GARD:0002249] synonym: "FTAAD" EXACT ABBREVIATION [] xref: GARD:2249 {source="MONDO:GARD"} @@ -444748,8 +444839,8 @@ subset: ordo_morphological_anomaly {source="Orphanet:91490"} subset: orphanet_rare {source="Orphanet:91490"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "isolated congenital sclerocornea" EXACT [DOID:0060252] -synonym: "sclerocornea" EXACT [MONDO:ambiguous] +synonym: "isolated congenital sclerocornea" EXACT [DOID:0060252, Orphanet:91490] +synonym: "sclerocornea" EXACT [DOID:0060252, icd11.foundation:995798428, MONDO:ambiguous] synonym: "sclerocornea (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060252 {source="MONDO:equivalentTo"} xref: GARD:16800 {source="MONDO:GARD"} @@ -444795,10 +444886,10 @@ subset: rare synonym: "congenital retinal detachment" EXACT [Orphanet:91495] synonym: "ncRNA disease" EXACT [Orphanet:91495] synonym: "non-syndromic congenital retinal non-attachment" EXACT [Orphanet:91495] -synonym: "persistent fetal vasculature syndrome" EXACT [Orphanet:91495] +synonym: "persistent fetal vasculature syndrome" EXACT [icd11.foundation:1011137326, Orphanet:91495] synonym: "persistent foetal vasculature syndrome" EXACT OMO:0003005 [] synonym: "PFVS" EXACT ABBREVIATION [Orphanet:91495] -synonym: "PHPV" EXACT ABBREVIATION [Orphanet:91495] +synonym: "PHPV" EXACT ABBREVIATION [NCIT:C161554, Orphanet:91495] xref: DOID:0060282 {source="MONDO:equivalentTo"} xref: GARD:16803 {source="MONDO:GARD"} xref: ICD10CM:Q14.0 {source="Orphanet:91495/attributed", source="Orphanet:91495/ntbt", source="Orphanet:91495"} @@ -444827,12 +444918,12 @@ subset: rare synonym: "Bannwarth syndrome" EXACT [DOID:11729] synonym: "Bannworth's syndrome" EXACT [DOID:11729] synonym: "Borrelia" EXACT [NCIT:C45161] -synonym: "Borrelia burgdorferi infection" EXACT [NCIT:C45161] +synonym: "Borrelia burgdorferi infection" EXACT [icd11.foundation:1600014919, NCIT:C45161] synonym: "Borreliella burgdorferi caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Borreliella burgdorferi disease or disorder" EXACT [] synonym: "Borreliella burgdorferi infectious disease" EXACT [] -synonym: "Lyme borreliosis" EXACT [DOID:11729, Orphanet:91546] -synonym: "Lyme disease" EXACT [NCIT:C45161] +synonym: "Lyme borreliosis" EXACT [DOID:11729, icd11.foundation:1600014919, Orphanet:91546] +synonym: "Lyme disease" EXACT [DOID:11729, ICD10CM:A69.2, icd11.foundation:1600014919, NCIT:C45161, Orphanet:91546] synonym: "Lyme neuroborreliosis" EXACT [DOID:11729] synonym: "neuroborreliosis" EXACT [DOID:11729] synonym: "neurological Lyme disease" EXACT [DOID:11729] @@ -444952,7 +445043,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93100"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital single kidney" EXACT [NCIT:C101220] -synonym: "congenital solitary kidney" EXACT [NCIT:C101220] +synonym: "congenital solitary kidney" EXACT [icd11.foundation:760295498, NCIT:C101220] synonym: "unilateral renal agenesis" EXACT [NCIT:C101220] xref: GARD:16804 {source="MONDO:GARD"} xref: ICD10CM:Q60.0 {source="Orphanet:93100", source="MONDO:equivalentTo", source="Orphanet:93100/e", source="Orphanet:93100/specific"} @@ -444975,7 +445066,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:93101"} subset: orphanet_rare {source="Orphanet:93101"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "renal hypoplasia" EXACT [MONDO:ambiguous] +synonym: "renal hypoplasia" EXACT [DOID:0080204, MONDO:ambiguous, Orphanet:93101] synonym: "renal hypoplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0080204 {source="MONDO:equivalentTo"} xref: GARD:19172 {source="MONDO:GARD"} @@ -445004,7 +445095,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:93108"} subset: orphanet_rare {source="Orphanet:93108"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "renal dysplasia" EXACT [MONDO:ambiguous] +synonym: "renal dysplasia" EXACT [icd11.foundation:921320354, MONDO:ambiguous, Orphanet:93108] synonym: "renal dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:19173 {source="MONDO:GARD"} xref: HP:0000110 {source="MONDO:otherHierarchy"} @@ -445250,7 +445341,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: ordo_histopathological_subtype {source="Orphanet:93206"} subset: rare -synonym: "idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93206] +synonym: "idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [] xref: ICD10CM:N04.1 {source="Orphanet:93206/attributed", source="Orphanet:93206/ntbt", source="Orphanet:93206"} xref: Orphanet:93206 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019067 {source="Orphanet:93206"} ! idiopathic steroid-sensitive nephrotic syndrome @@ -445265,7 +445356,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: ordo_histopathological_subtype {source="Orphanet:93207"} subset: rare -synonym: "steroid-sensitive MCNS" EXACT [Orphanet:93207] +synonym: "steroid-sensitive MCNS" EXACT [] xref: ICD10CM:N04.0 {source="Orphanet:93207", source="Orphanet:93207/attributed", source="Orphanet:93207/ntbt"} xref: Orphanet:93207 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019067 {source="Orphanet:93207"} ! idiopathic steroid-sensitive nephrotic syndrome @@ -445337,7 +445428,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: obsoletion_candidate subset: ordo_histopathological_subtype {source="Orphanet:93218"} subset: rare -synonym: "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93218] +synonym: "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [] xref: ICD10CM:N04.1 {source="Orphanet:93218", source="Orphanet:93218/attributed", source="Orphanet:93218/ntbt"} xref: Orphanet:93218 {source="MONDO:equivalentObsolete"} is_a: MONDO:0019401 {source="Orphanet:93218"} ! sporadic idiopathic steroid-resistant nephrotic syndrome @@ -445387,7 +445478,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93258"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "classic Pfeiffer syndrome" EXACT [Orphanet:93258] -synonym: "Pfeiffer syndrome type 1" EXACT CLINGEN_LABEL [] +synonym: "Pfeiffer syndrome type 1" EXACT CLINGEN_LABEL [icd11.foundation:490354109, Orphanet:93258] xref: GARD:16807 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:93258", source="Orphanet:93258/attributed", source="Orphanet:93258/ntbt"} xref: icd11.foundation:490354109 {source="MONDO:equivalentTo"} @@ -445479,7 +445570,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93277"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Jaffe-Lichtenstein disease" EXACT [Orphanet:93277] -synonym: "monostotic fibrous dysplasia" EXACT [MONDO:ambiguous] +synonym: "monostotic fibrous dysplasia" EXACT [icd11.foundation:1033883899, MONDO:ambiguous, NCIT:C53971, Orphanet:93277] synonym: "monostotic fibrous dysplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "monostotic fibrous dysplasia of bone" EXACT [NCIT:C53971] xref: GARD:19181 {source="MONDO:GARD"} @@ -445507,13 +445598,13 @@ subset: ordo_disorder {source="Orphanet:93282"} subset: orphanet_rare {source="Orphanet:93282"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BCYM4" RELATED ABBREVIATION [MONDO:Lexical, OMIM:612847] -synonym: "brachyolmia 4 with mild epiphyseal and metaphyseal changes" EXACT [OMIM:612847, OMIM:genemap2] -synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes" RELATED [MONDO:Lexical, OMIM:612847] -synonym: "SEMD, Pakistani type" RELATED [OMIM:612847] -synonym: "spondylodysplasia and premature pubarche" RELATED [OMIM:612847] +synonym: "BCYM4" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "brachyolmia 4 with mild epiphyseal and metaphyseal changes" EXACT [] +synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes" RELATED [MONDO:Lexical] +synonym: "SEMD, Pakistani type" RELATED [] +synonym: "spondylodysplasia and premature pubarche" RELATED [] synonym: "spondyloepimetaphyseal dysplasia Pakistani type" EXACT [DOID:0050812] -synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [OMIM:612847, Orphanet:93282] +synonym: "spondyloepimetaphyseal dysplasia, Pakistani type" EXACT [DOID:0050812, OMIM:612847, Orphanet:93282] xref: DOID:0050812 {source="MONDO:equivalentTo"} xref: GARD:16813 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93282/attributed", source="Orphanet:93282/ntbt", source="Orphanet:93282"} @@ -445558,7 +445649,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:93292"} subset: orphanet_rare {source="Orphanet:93292"} subset: rare -synonym: "adenoma of the pancreas" RELATED [Orphanet:93292] +synonym: "adenoma of the pancreas" RELATED [] synonym: "pancreatic adenoma" EXACT [Orphanet:93292] xref: GARD:4204 {source="MONDO:GARD"} xref: ICD10CM:D13.6 {source="MONDO:relatedTo", source="Orphanet:93292/ntbt", source="Orphanet:93292"} @@ -445604,9 +445695,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:93320"} subset: orphanet_rare {source="Orphanet:93320"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital longitudinal deficiency of the ulna" EXACT [Orphanet:93320] -synonym: "ulnar clubhand" EXACT [Orphanet:93320] -synonym: "ulnar longitudinal meromelia" EXACT [Orphanet:93320] +synonym: "congenital longitudinal deficiency of the ulna" EXACT [] +synonym: "ulnar clubhand" EXACT [] +synonym: "ulnar longitudinal meromelia" EXACT [] xref: GARD:19182 {source="MONDO:GARD"} xref: ICD10CM:Q71.5 {source="Orphanet:93320", source="Orphanet:93320/e", source="Orphanet:93320/specific"} xref: icd11.foundation:1136383237 {source="Orphanet:93320", source="MONDO:equivalentTo"} @@ -445628,10 +445719,10 @@ subset: ordo_morphological_anomaly {source="Orphanet:93321"} subset: orphanet_rare {source="Orphanet:93321"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital longitudinal deficiency of the radius" EXACT [Orphanet:93321] -synonym: "radial clubhand" EXACT [Orphanet:93321] -synonym: "radial longitidinal meromelia" EXACT [Orphanet:93321] -synonym: "radial ray agenesis" EXACT [Orphanet:93321] +synonym: "congenital longitudinal deficiency of the radius" EXACT [] +synonym: "radial clubhand" EXACT [icd11.foundation:653269137] +synonym: "radial longitidinal meromelia" EXACT [] +synonym: "radial ray agenesis" EXACT [] xref: GARD:225 {source="MONDO:GARD"} xref: ICD10CM:Q71.4 {source="Orphanet:93321", source="Orphanet:93321/specific", source="Orphanet:93321/e"} xref: icd11.foundation:653269137 {source="Orphanet:93321", source="MONDO:equivalentTo"} @@ -445653,8 +445744,8 @@ subset: ordo_morphological_anomaly {source="Orphanet:93323"} subset: orphanet_rare {source="Orphanet:93323"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital longitudinal deficiency of the fibula" EXACT [Orphanet:93323] -synonym: "fibular longitudinal meromelia" EXACT [Orphanet:93323] +synonym: "congenital longitudinal deficiency of the fibula" EXACT [] +synonym: "fibular longitudinal meromelia" EXACT [] xref: GARD:8659 {source="MONDO:GARD"} xref: ICD10CM:Q72.6 {source="Orphanet:93323", source="Orphanet:93323/specific", source="Orphanet:93323/e"} xref: icd11.foundation:915482054 {source="MONDO:equivalentTo", source="Orphanet:93323"} @@ -445674,7 +445765,7 @@ subset: orphanet_rare {source="Orphanet:93334"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "PAPA" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] -synonym: "postaxial polydactyly type A" EXACT [MONDO:ambiguous] +synonym: "postaxial polydactyly type A" EXACT [icd11.foundation:476330894, MONDO:ambiguous, Orphanet:93334] synonym: "postaxial polydactyly type A (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:16817 {source="MONDO:GARD"} xref: HP:0005696 {source="MONDO:otherHierarchy"} @@ -445698,7 +445789,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:93335"} subset: orphanet_rare {source="Orphanet:93335"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PAPB" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165, OMIM:174200] +synonym: "PAPB" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] xref: GARD:16818 {source="MONDO:GARD"} xref: ICD10CM:Q69.0 {source="Orphanet:93335", source="Orphanet:93335/attributed", source="Orphanet:93335/ntbt"} xref: icd11.foundation:366939273 {source="MONDO:equivalentTo"} @@ -445719,13 +445810,13 @@ subset: gard_rare {source="GARD:4982", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SEMD-JL" EXACT [Orphanet:93359] -synonym: "SEMDJL" EXACT ABBREVIATION [GARD:0004982] -synonym: "SEMDJL1" NARROW ABBREVIATION [Orphanet:93359] +synonym: "SEMD-JL" EXACT [] +synonym: "SEMDJL" EXACT ABBREVIATION [DOID:0112197, GARD:0004982] +synonym: "SEMDJL1" NARROW ABBREVIATION [] synonym: "spondyloepimetaphyseal dysplasia joint laxity" RELATED [GARD:0004982] -synonym: "spondyloepimetaphyseal dysplasia with joint laxity" EXACT [GARD:0004982] -synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1" NARROW [Orphanet:93359] -synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" NARROW [Orphanet:93359] +synonym: "spondyloepimetaphyseal dysplasia with joint laxity" EXACT [DOID:0112197, GARD:0004982, OMIMPS:271640] +synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1" NARROW [] +synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" NARROW [] xref: DOID:0112197 {source="MONDO:equivalentTo"} xref: GARD:4982 {source="MONDO:GARD"} xref: ICD10CM:Q77.7 {source="Orphanet:93359", source="Orphanet:93359/attributed", source="Orphanet:93359/ntbt"} @@ -445990,8 +446081,8 @@ subset: gard_rare {source="GARD:16822", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:93426"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ciliopathies with major skeletal involvement" RELATED [Orphanet:93426] -synonym: "short-rib dysplasia (with or without polydactyly)" EXACT [Orphanet:93426] +synonym: "ciliopathies with major skeletal involvement" RELATED [] +synonym: "short-rib dysplasia (with or without polydactyly)" EXACT [] synonym: "SRP" EXACT ABBREVIATION [Orphanet:93426] xref: GARD:16822 {source="MONDO:GARD"} xref: ICD10CM:Q77.2 {source="Orphanet:93426/e", source="Orphanet:93426/specific", source="Orphanet:93426"} @@ -446114,7 +446205,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:93439"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "campomelic dysplasia and related disorders" RELATED [Orphanet:93439] +synonym: "campomelic dysplasia and related disorders" RELATED [] xref: GARD:19196 {source="MONDO:GARD"} xref: ICD9:756.59 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:609415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -446140,8 +446231,8 @@ is_obsolete: true id: MONDO:0019700 name: obsolete primary bone dysplasia with multiple joint dislocations comment: This term was reinstated as a new class, see MONDO:0800086. -synonym: "primary osteodysplasia with multiple joint dislocations" RELATED [Orphanet:93441] -synonym: "primary skeletal dysplasia with multiple joint dislocations" RELATED [Orphanet:93441] +synonym: "primary osteodysplasia with multiple joint dislocations" RELATED [] +synonym: "primary skeletal dysplasia with multiple joint dislocations" RELATED [] property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI is_obsolete: true @@ -446158,9 +446249,9 @@ subset: ordo_group_of_disorders {source="Orphanet:93442"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CDP" EXACT ABBREVIATION [Orphanet:93442] -synonym: "chondrodysplasia calcificans congenita" EXACT [DOID:2581] -synonym: "chondrodysplasia punctata (stippled epiphyses) Group" EXACT [NCIT:C84632] -synonym: "chondrodysplasia punctata congenita" EXACT [DOID:2581] +synonym: "chondrodysplasia calcificans congenita" EXACT [] +synonym: "chondrodysplasia punctata (stippled epiphyses) Group" EXACT [icd11.foundation:1923035846, NCIT:C84632] +synonym: "chondrodysplasia punctata congenita" EXACT [DOID:2581, icd11.foundation:1923035846] xref: DOID:2581 {source="MONDO:equivalentTo"} xref: GARD:8542 {source="MONDO:GARD"} xref: ICD10CM:Q77.3 {source="Orphanet:93442", source="MONDO:equivalentTo", source="Orphanet:93442/specific", source="Orphanet:93442/e", source="DOID:2581"} @@ -446201,9 +446292,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019703 name: obsolete primary bone dysplasia with increased bone density -synonym: "primary osteodysplasia with increased bone density" RELATED [Orphanet:93444] -synonym: "primary skeletal dysplasia with increased bone density" RELATED [Orphanet:93444] -synonym: "sclerosing bone dysplasia" RELATED [Orphanet:93444] +synonym: "primary osteodysplasia with increased bone density" RELATED [] +synonym: "primary skeletal dysplasia with increased bone density" RELATED [] +synonym: "sclerosing bone dysplasia" RELATED [] property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI is_obsolete: true @@ -446214,8 +446305,8 @@ id: MONDO:0019704 name: obsolete primary bone dysplasia with decreased bone density comment: Reason: out of scope. Term to consider: MONDO:0018230. subset: ordo_group_of_disorders {source="Orphanet:93446"} -synonym: "primary osteodysplasia with decreased bone density" EXACT [Orphanet:93446] -synonym: "primary skeletal dysplasia with decreased bone density" EXACT [Orphanet:93446] +synonym: "primary osteodysplasia with decreased bone density" EXACT [] +synonym: "primary skeletal dysplasia with decreased bone density" EXACT [] xref: Orphanet:93446 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -446227,8 +446318,8 @@ id: MONDO:0019705 name: obsolete primary bone dysplasia with defective bone mineralization comment: Reason: out of scope. Term to consider: MONDO:0018230. subset: ordo_group_of_disorders {source="Orphanet:93447"} -synonym: "primary osteodysplasia with defective bone mineralization" EXACT [Orphanet:93447] -synonym: "primary skeletal dysplasia with defective bone mineralization" EXACT [Orphanet:93447] +synonym: "primary osteodysplasia with defective bone mineralization" EXACT [] +synonym: "primary skeletal dysplasia with defective bone mineralization" EXACT [] xref: Orphanet:93447 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI @@ -446263,8 +446354,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019708 name: obsolete primary bone dysplasia with disorganized development of skeletal components comment: This term was reinstated as a new class. See MONDO:0800089. -synonym: "primary osteodysplasia with disorganized development of skeletal components" RELATED [Orphanet:93450] -synonym: "primary skeletal dysplasia with disorganized development of skeletal components" RELATED [Orphanet:93450] +synonym: "primary osteodysplasia with disorganized development of skeletal components" RELATED [] +synonym: "primary skeletal dysplasia with disorganized development of skeletal components" RELATED [] property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/704" xsd:anyURI is_obsolete: true @@ -446425,11 +446516,11 @@ subset: gard_rare {source="GARD:19216", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:93545"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CAKUT" EXACT ABBREVIATION [Orphanet:93545] -synonym: "congenital anomalies of kidney and urinary tract" EXACT [Orphanet:93545] +synonym: "CAKUT" EXACT ABBREVIATION [DOID:0080205, Orphanet:93545] +synonym: "congenital anomalies of kidney and urinary tract" EXACT [OMIMPS:610805, Orphanet:93545] synonym: "congenital anomalies of the kidney and urinary tract" EXACT [DOID:0080205] synonym: "congenital anomaly of kidney and urinary tract" EXACT CLINGEN_LABEL [] -synonym: "renal or urinary tract malformation" EXACT [DOID:0080205] +synonym: "renal or urinary tract malformation" EXACT [DOID:0080205, Orphanet:93545] xref: DOID:0080205 {source="MONDO:equivalentTo"} xref: GARD:19216 {source="MONDO:GARD"} xref: ICD10CM:Q60-Q64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -446489,7 +446580,7 @@ synonym: "disease of renal glomerulus" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of renal glomerulus" EXACT [] synonym: "disorder of renal glomerulus" EXACT [MONDO:patterns/location_top] synonym: "glomerulopathies" RELATED [GTR:AN0966176] -synonym: "glomerulopathy" EXACT [MONDO:patterns/location] +synonym: "glomerulopathy" EXACT [MONDO:patterns/location, NCIT:C120887] synonym: "renal glomerulus disease" EXACT [MONDO:patterns/location] synonym: "renal glomerulus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: EFO:1002049 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -446506,7 +446597,7 @@ intersection_of: disease_has_location UBERON:0000074 ! renal glomerulus id: MONDO:0019723 name: obsolete disease of glomerular basement membrane subset: otar {source="MONDO:OTAR"} -synonym: "basement membrane disease" BROAD [Orphanet:93550] +synonym: "basement membrane disease" BROAD [] xref: Orphanet:93550 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -446590,7 +446681,7 @@ subset: gard_rare {source="GARD:19222", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93556"} subset: rare -synonym: "HCDD" EXACT ABBREVIATION [Orphanet:93556] +synonym: "HCDD" EXACT ABBREVIATION [NCIT:C7339, Orphanet:93556] xref: GARD:19222 {source="MONDO:GARD"} xref: ICD10CM:D89.8 {source="Orphanet:93556", source="Orphanet:93556/ntbt"} xref: icd11.foundation:2018948190 {source="MONDO:equivalentTo", source="Orphanet:93556"} @@ -446607,7 +446698,7 @@ subset: gard_rare {source="GARD:19223", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93557"} subset: rare -synonym: "LHCDD" EXACT ABBREVIATION [Orphanet:93557] +synonym: "LHCDD" EXACT ABBREVIATION [NCIT:C158965, Orphanet:93557] xref: GARD:19223 {source="MONDO:GARD"} xref: ICD10CM:D89.8 {source="Orphanet:93557", source="Orphanet:93557/ntbt"} xref: icd11.foundation:1815409370 {source="MONDO:equivalentTo", source="Orphanet:93557"} @@ -446738,8 +446829,8 @@ subset: gard_rare {source="GARD:4704", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1593"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "polymyalgia rheumatica" EXACT [DOID:853, ICD9CM:725] -synonym: "rhizomelic pseudopolyarthritis" EXACT [Orphanet:93569] +synonym: "polymyalgia rheumatica" EXACT [DOID:853, icd11.foundation:103940897, ICD9CM:725, NCIT:C85018] +synonym: "rhizomelic pseudopolyarthritis" EXACT [] xref: DOID:853 {source="MONDO:equivalentTo"} xref: EFO:0008518 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:4704 {source="MONDO:GARD"} @@ -446772,7 +446863,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93571"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glomerulonephritis membranoproliferative type 2" RELATED [GARD:0008555] -synonym: "membranoproliferative glomerulonephritis type 2" EXACT [Orphanet:93571] +synonym: "membranoproliferative glomerulonephritis type 2" EXACT [NCIT:C123039, Orphanet:93571] synonym: "membranoproliferative glomerulonephritis type II" RELATED [GARD:0008555] synonym: "Mesangiocapillary glomerulonephritis type 2" EXACT [NCIT:C123039] synonym: "MPGN 2" RELATED [GARD:0008555] @@ -446820,10 +446911,10 @@ subset: obsoletion_candidate subset: ordo_etiological_subtype {source="Orphanet:93579"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "aHUS with H factor anomaly" EXACT [Orphanet:93579] -synonym: "atypical HUS with H factor anomaly" EXACT [Orphanet:93579] -synonym: "D-HUS with H factor anomaly" EXACT [Orphanet:93579] -synonym: "hemolytic-uremic syndrome without diarrhea with H factor anomaly" EXACT [Orphanet:93579] +synonym: "aHUS with H factor anomaly" EXACT [] +synonym: "atypical HUS with H factor anomaly" EXACT [] +synonym: "D-HUS with H factor anomaly" EXACT [] +synonym: "hemolytic-uremic syndrome without diarrhea with H factor anomaly" EXACT [] synonym: "hemolytic-uremic syndrome without diarrhoea with H factor anomaly" EXACT OMO:0003005 [] xref: ICD10CM:D58.8 {source="Orphanet:93579", source="Orphanet:93579/attributed", source="Orphanet:93579/ntbt"} xref: Orphanet:93579 {source="MONDO:equivalentObsolete"} @@ -446843,8 +446934,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aHUS with anti-factor H antibodies" EXACT [Orphanet:93581] synonym: "atypical HUS with anti-factor H antibodies" EXACT [Orphanet:93581] -synonym: "D-HUS with anti-factor H antibodies" EXACT [Orphanet:93581] -synonym: "hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies" EXACT [Orphanet:93581] +synonym: "D-HUS with anti-factor H antibodies" EXACT [] +synonym: "hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies" EXACT [] synonym: "hemolytic-uremic syndrome without diarrhoea with anti-factor H antibodies" EXACT OMO:0003005 [] xref: GARD:16823 {source="MONDO:GARD"} xref: ICD10CM:D58.8 {source="Orphanet:93581", source="Orphanet:93581/attributed", source="Orphanet:93581/ntbt"} @@ -446864,8 +446955,8 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93585"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acquired ADAMTS13 deficiency" EXACT [NCIT:C131653] -synonym: "acquired thrombotic thrombocytopenic purpura" EXACT [MONDO:patterns/acquired] -synonym: "acquired TTP" EXACT [Orphanet:93585] +synonym: "acquired thrombotic thrombocytopenic purpura" EXACT [MONDO:patterns/acquired, NCIT:C131653, Orphanet:93585] +synonym: "acquired TTP" EXACT [NCIT:C131653, Orphanet:93585] synonym: "autoimmune thrombotic thrombocytopenic purpura" EXACT [Orphanet:93585] synonym: "idiopathic thrombotic thrombocytopenic purpura" RELATED [GARD:0004607] synonym: "Moschowitz syndrome" RELATED [GARD:0004607] @@ -447077,7 +447168,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:93685"} subset: rare synonym: "localised Angiofollicular lymphoid hyperplasia" EXACT OMO:0003005 [] synonym: "localized Angiofollicular lymphoid hyperplasia" EXACT [NCIT:C115200] -synonym: "localized Castleman disease" EXACT [NCIT:C115200] +synonym: "localized Castleman disease" EXACT [NCIT:C115200, Orphanet:93685] synonym: "Unicentric angiofollicular ganglionic hyperplasia" RELATED [GARD:0006005] synonym: "Unicentric angiofollicular lymph hyperplasia" RELATED [GARD:0006005] synonym: "Unicentric Castleman disease" RELATED [GARD:0006005] @@ -447099,10 +447190,10 @@ subset: rare synonym: "HHV-8-associated multicentric Castleman disease" EXACT [Orphanet:570438] synonym: "Human herpesvirus-8-associated multicentric Castleman disease" EXACT [Orphanet:570438] synonym: "idiopathic multicentric Castleman's disease" RELATED [GARD:0009644] -synonym: "MCD" EXACT ABBREVIATION [DOID:0111152, Orphanet:93686] +synonym: "MCD" EXACT ABBREVIATION [DOID:0111152, NCIT:C27855] synonym: "multicentric Angiofollicular lymphoid hyperplasia" EXACT [NCIT:C27855] synonym: "multicentric Castleman's disease" EXACT [NCIT:C27855] -synonym: "multicentric giant lymph node hyperplasia" EXACT [DOID:0111152, Orphanet:93686] +synonym: "multicentric giant lymph node hyperplasia" EXACT [DOID:0111152] synonym: "multicentric plasma cell variant of Castleman's disease" RELATED [GARD:0009644] synonym: "plasmablastic multicentric Castleman disease" EXACT [DOID:0111152] synonym: "PMCD" EXACT ABBREVIATION [DOID:0111152] @@ -447127,7 +447218,7 @@ def: "A disease that has its basis in the disruption of embryonic morphogenesis. subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:93890"} subset: otar {source="MONDO:OTAR"} -synonym: "congenital malformation syndrome" EXACT [] +synonym: "congenital malformation syndrome" EXACT [NCIT:C99267] synonym: "developmental defect during embryogenesis" EXACT [] synonym: "disorder of embryonic morphogenesis" EXACT [MONDO:design_pattern, MONDO:patterns/basis_in_disruption_of_process] synonym: "embryonic morphogenesis disease" EXACT [MONDO:design_pattern] @@ -447186,13 +447277,13 @@ name: obsolete midline interhemispheric variant of holoprosencephaly def: "OBSOLETE. Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." [Orphanet:93926] subset: ordo_subtype_of_a_disorder {source="Orphanet:93926"} subset: otar {source="MONDO:OTAR"} -synonym: "middle interhemispheric fusion variant" EXACT [Orphanet:93926] -synonym: "middle interhemispheric variant of holoprosencephaly" EXACT [Orphanet:93926] -synonym: "MIH" EXACT ABBREVIATION [Orphanet:93926] -synonym: "MIH type HPE" EXACT [Orphanet:93926] -synonym: "MIHF" EXACT ABBREVIATION [Orphanet:93926] -synonym: "MIHV" EXACT ABBREVIATION [Orphanet:93926] -synonym: "Syntelencephaly" EXACT [Orphanet:93926] +synonym: "middle interhemispheric fusion variant" EXACT [] +synonym: "middle interhemispheric variant of holoprosencephaly" EXACT [] +synonym: "MIH" EXACT ABBREVIATION [] +synonym: "MIH type HPE" EXACT [] +synonym: "MIHF" EXACT ABBREVIATION [] +synonym: "MIHV" EXACT ABBREVIATION [] +synonym: "Syntelencephaly" EXACT [] xref: ICD10CM:Q04.2 {source="Orphanet:93926/attributed", source="Orphanet:93926/ntbt", source="Orphanet:93926"} xref: Orphanet:93926 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -447213,7 +447304,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:93928"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "epispadias" EXACT [MONDO:ambiguous] +synonym: "epispadias" EXACT [icd11.foundation:397402420, MONDO:ambiguous, NCIT:C98923] synonym: "epispadias (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:19235 {source="MONDO:GARD"} xref: HP:0000039 {source="MONDO:otherHierarchy"} @@ -447237,7 +447328,7 @@ name: terminal transverse defects of arm subset: gard_rare {source="MONDO:GARD"} subset: ordo_morphological_anomaly {source="Orphanet:93937"} subset: rare -synonym: "congenital limb amputation" EXACT [Orphanet:93937] +synonym: "congenital limb amputation" EXACT [] xref: ICD10CM:Q79.8 {source="Orphanet:93937/attributed", source="Orphanet:93937/ntbt", source="Orphanet:93937"} xref: MEDGEN:341800 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565681 {source="MONDO:equivalentTo"} @@ -447432,8 +447523,8 @@ synonym: "blepharospasm-oromandibular dystonia" RELATED [GARD:0007008] synonym: "Brueghel syndrome" RELATED [GARD:0007008] synonym: "idiopathic blepharospasm-oromandibular dystonia syndrome" RELATED [GARD:0007008] synonym: "Meige dystonia" EXACT [Orphanet:93964] -synonym: "Meige Syndrome" EXACT [NORD:1425] -synonym: "Meige syndrome" EXACT [MONDO:0002825, Orphanet:93964] +synonym: "Meige Syndrome" EXACT [DOID:3982, NORD:1425, Orphanet:93964] +synonym: "Meige syndrome" EXACT [DOID:3982, MONDO:0002825, Orphanet:93964] synonym: "Meige's syndrome" RELATED [GARD:0007008] synonym: "oral facial dystonia" RELATED [GARD:0007008] synonym: "segmental cranial dystonia" RELATED [GARD:0007008] @@ -447615,7 +447706,7 @@ subset: ordo_disorder {source="Orphanet:94056"} subset: ordo_morphological_anomaly {source="Orphanet:94056"} subset: orphanet_rare {source="Orphanet:94056"} subset: rare -synonym: "humero-ulnar fusion" EXACT [Orphanet:94056] +synonym: "humero-ulnar fusion" EXACT [] xref: GARD:19244 {source="MONDO:GARD"} xref: ICD10CM:Q74.0 {source="Orphanet:94056/attributed", source="Orphanet:94056/ntbt", source="Orphanet:94056"} xref: icd11.foundation:2144695561 {source="Orphanet:94056", source="MONDO:equivalentTo"} @@ -447745,7 +447836,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:94080"} subset: orphanet_rare {source="Orphanet:94080"} subset: rare -synonym: "non-functioning paraganglioma" RELATED [Orphanet:94080] +synonym: "non-functioning paraganglioma" RELATED [] xref: GARD:19248 {source="MONDO:GARD"} xref: MEDGEN:1634671 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:94080 {source="MONDO:equivalentTo"} @@ -447786,7 +447877,7 @@ subset: ordo_disorder {source="Orphanet:94093"} subset: orphanet_rare {source="Orphanet:94093"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NMS" EXACT ABBREVIATION [NCIT:C94829] +synonym: "NMS" EXACT ABBREVIATION [] xref: DOID:14464 {source="MONDO:equivalentTo"} xref: EFO:1001379 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7195 {source="MONDO:GARD"} @@ -447895,7 +447986,7 @@ subset: ordo_disorder {source="Orphanet:945"} subset: ordo_malformation_syndrome {source="Orphanet:945"} subset: orphanet_rare {source="Orphanet:945"} subset: rare -synonym: "Acrania" EXACT [Orphanet:945] +synonym: "Acrania" EXACT [icd11.foundation:1719021696] synonym: "primary acalvaria" RELATED [GARD:0000361] xref: GARD:361 {source="MONDO:GARD"} xref: ICD10CM:Q00.0 {source="Orphanet:945", source="Orphanet:945/ntbt"} @@ -447918,10 +448009,10 @@ subset: disease_grouping subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acrocephalosyndactylia" EXACT [MONDO:0005331, Orphanet:946] +synonym: "acrocephalosyndactylia" EXACT [DOID:12960, MONDO:0005331] synonym: "acrocephalosyndactyly" EXACT [NCIT:C34348] -synonym: "ACS" EXACT ABBREVIATION [Orphanet:946] -synonym: "apert syndrome" RELATED EXCLUDE [DOID:12960] +synonym: "ACS" EXACT ABBREVIATION [] +synonym: "apert syndrome" RELATED EXCLUDE [] xref: DOID:12960 {source="EFO:0004123", source="MONDO:equivalentTo"} xref: ICD10CM:Q87.0 {source="Orphanet:946/inclusion", source="Orphanet:946", source="Orphanet:946/ntbt"} xref: ICD9:755.55 {source="MONDO:equivalentTo", source="MONDO:i2s", source="DOID:12960"} @@ -447991,7 +448082,7 @@ subset: ordo_disorder {source="Orphanet:95159"} subset: orphanet_rare {source="Orphanet:95159"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HEP" EXACT ABBREVIATION [OMIM:176100, Orphanet:95159] +synonym: "HEP" EXACT ABBREVIATION [Orphanet:95159] xref: DOID:5230 {source="MONDO:equivalentTo"} xref: GARD:6169 {source="MONDO:GARD"} xref: ICD10CM:E80.2 {source="Orphanet:95159/attributed", source="Orphanet:95159/ntbt", source="Orphanet:95159"} @@ -448040,10 +448131,10 @@ subset: orphanet_rare {source="Orphanet:95409"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute adrenal failure" EXACT [Orphanet:95409] -synonym: "acute adrenocortical insufficiency" EXACT [Orphanet:95409] -synonym: "Addisonian crisis" EXACT [Orphanet:95409] -synonym: "adrenal crisis" EXACT [Orphanet:95409] -synonym: "adrenocortical crisis" EXACT [Orphanet:95409] +synonym: "acute adrenocortical insufficiency" EXACT [icd11.foundation:114442391, Orphanet:95409] +synonym: "Addisonian crisis" EXACT [icd11.foundation:114442391, NCIT:C112840, Orphanet:95409] +synonym: "adrenal crisis" EXACT [icd11.foundation:114442391, NCIT:C112840, Orphanet:95409] +synonym: "adrenocortical crisis" EXACT [icd11.foundation:114442391, Orphanet:95409] xref: GARD:19257 {source="MONDO:GARD"} xref: ICD10CM:E27.2 {source="Orphanet:95409/ntbt", source="Orphanet:95409"} xref: icd11.foundation:114442391 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:95409"} @@ -448114,8 +448205,8 @@ subset: orphanet_rare {source="Orphanet:95430"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital major airway collapse" EXACT [Orphanet:95430] -synonym: "Congenital Tracheomalacia" EXACT [NORD:2028] -synonym: "congenital tracheomalacia" EXACT [DOID:0060313] +synonym: "Congenital Tracheomalacia" EXACT [DOID:0060313, icd11.foundation:1616705280, NORD:2028, Orphanet:95430] +synonym: "congenital tracheomalacia" EXACT [DOID:0060313, icd11.foundation:1616705280, Orphanet:95430] synonym: "tracheomalacia, congenital" RELATED [GARD:0010515] synonym: "type 1 tracheomalacia" RELATED [GARD:0010515] xref: DOID:0060313 {source="MONDO:equivalentTo"} @@ -448151,7 +448242,7 @@ subset: rare synonym: "fetal blood loss from fetal hemorrhage into co-twin" EXACT [DOID:13576] synonym: "fetal hemorrhage into co-twin" EXACT [DOID:13576] synonym: "fetal transfusion syndrome" RELATED [GARD:0000325] -synonym: "Feto-fetal transfusion syndrome" EXACT [Orphanet:95431] +synonym: "Feto-fetal transfusion syndrome" EXACT [icd11.foundation:850604370, Orphanet:95431] synonym: "Fetofetal transfusion syndrome" RELATED [GARD:0000325] synonym: "foetal blood loss from foetal haemorrhage into co-twin" EXACT OMO:0003005 [] synonym: "foetal haemorrhage into co-twin" EXACT OMO:0003005 [] @@ -448162,7 +448253,7 @@ synonym: "TTTS" RELATED ABBREVIATION [GARD:0000325] synonym: "Twin Anemia Polycythemia Sequence" EXACT [NORD:2021] synonym: "Twin to twin transfusion" EXACT [DOID:13576] synonym: "Twin-to-twin blood transfer" EXACT [DOID:13576] -synonym: "twin-to-twin transfusion syndrome" EXACT [MONDO:0007003] +synonym: "twin-to-twin transfusion syndrome" EXACT [DOID:13576, MONDO:0007003] synonym: "Twin-Twin transfusion syndrome" EXACT [NCIT:C113824] xref: DOID:13576 {source="EFO:1001221", source="MONDO:equivalentTo"} xref: EFO:1001221 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -448194,7 +448285,7 @@ subset: ordo_group_of_disorders {source="Orphanet:95432"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Mesulam syndrome" EXACT [Orphanet:95432] -synonym: "PPA" EXACT ABBREVIATION [OMIM:607485, Orphanet:95432] +synonym: "PPA" EXACT ABBREVIATION [Orphanet:95432] synonym: "primary progressive aphasia syndrome" RELATED [GARD:0008541] xref: DOID:0081388 {source="MONDO:equivalentTo"} xref: EFO:0009053 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -448218,9 +448309,9 @@ subset: ordo_disorder {source="Orphanet:95443"} subset: ordo_morphological_anomaly {source="Orphanet:95443"} subset: orphanet_rare {source="Orphanet:95443"} subset: rare -synonym: "mesocardia" EXACT [MONDO:ambiguous] +synonym: "mesocardia" EXACT [icd11.foundation:1251061251, MONDO:ambiguous, Orphanet:95443] synonym: "mesocardia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "Midline heart" EXACT [Orphanet:95443] +synonym: "Midline heart" EXACT [icd11.foundation:1251061251, Orphanet:95443] xref: GARD:19259 {source="MONDO:GARD"} xref: HP:0011599 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q24.8 {source="Orphanet:95443", source="Orphanet:95443/ntbt"} @@ -448244,10 +448335,10 @@ subset: gard_rare {source="GARD:19260", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:95448"} subset: rare -synonym: "aortic valve atresia" EXACT [MONDO:ambiguous] +synonym: "aortic valve atresia" EXACT [icd11.foundation:1700740306, MONDO:ambiguous, NCIT:C98818] synonym: "aortic valve atresia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "congenital aortic valve atresia" EXACT [NCIT:C98818] -synonym: "congenital atresia of aortic valve" EXACT [NCIT:C98818] +synonym: "congenital aortic valve atresia" EXACT [NCIT:C98818, Orphanet:95448] +synonym: "congenital atresia of aortic valve" EXACT [icd11.foundation:1700740306, NCIT:C98818] xref: GARD:19260 {source="MONDO:GARD"} xref: HP:0010883 {source="MONDO:otherHierarchy"} xref: ICD10CM:Q23.0 {source="Orphanet:95448", source="Orphanet:95448/ntbt"} @@ -448297,12 +448388,12 @@ subset: ordo_disorder {source="Orphanet:95455"} subset: orphanet_rare {source="Orphanet:95455"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Lyell syndrome" NARROW [NCIT:C79777] -synonym: "Lyell's syndrome" NARROW [NCIT:C79777] -synonym: "SJS-TEN" EXACT [Orphanet:95455] -synonym: "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum" RELATED [Orphanet:95455] +synonym: "Lyell syndrome" NARROW [] +synonym: "Lyell's syndrome" NARROW [] +synonym: "SJS-TEN" EXACT ABBREVIATION [Orphanet:95455] +synonym: "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum" RELATED [] synonym: "TEN" EXACT ABBREVIATION [NCIT:C79777] -synonym: "toxic epidermolysis" EXACT [Orphanet:95455] +synonym: "toxic epidermolysis" EXACT [] xref: EFO:0004775 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7743 {source="MONDO:GARD"} xref: ICD10CM:L51.2 {source="Orphanet:95455", source="Orphanet:95455/e"} @@ -448494,7 +448585,7 @@ property_value: IAO:0006012 "2024-09-01" xsd:string id: MONDO:0019822 name: obsolete arterial duct anomaly subset: ordo_group_of_disorders {source="Orphanet:95485"} -synonym: "patent ductus arteriosus anomalies" EXACT [Orphanet:95485] +synonym: "patent ductus arteriosus anomalies" EXACT [] xref: Orphanet:95485 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -448593,9 +448684,9 @@ subset: ordo_morphological_anomaly {source="Orphanet:95496"} subset: orphanet_rare {source="Orphanet:95496"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectopic neurohypophysis" EXACT [Orphanet:95496] +synonym: "ectopic neurohypophysis" EXACT [icd11.foundation:1474283222, Orphanet:95496] synonym: "hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary" EXACT [NCIT:C121150] -synonym: "PSIS" EXACT ABBREVIATION [Orphanet:95496] +synonym: "PSIS" EXACT ABBREVIATION [NCIT:C121150, Orphanet:95496] xref: GARD:13209 {source="MONDO:GARD"} xref: ICD10CM:E23.6 {source="Orphanet:95496", source="Orphanet:95496/attributed", source="Orphanet:95496/ntbt"} xref: icd11.foundation:1474283222 {source="MONDO:equivalentTo"} @@ -448715,7 +448806,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:19281", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:95506"} subset: rare -synonym: "autoimmune hypophysitis" EXACT [Orphanet:95506] +synonym: "autoimmune hypophysitis" EXACT [NCIT:C132055, Orphanet:95506] synonym: "lymphocytic hypophysitis" EXACT [NCIT:C132055] xref: GARD:19281 {source="MONDO:GARD"} xref: ICD10CM:E23.6 {source="Orphanet:95506", source="Orphanet:95506/ntbt"} @@ -448759,7 +448850,7 @@ id: MONDO:0019837 name: obsolete atrial appendage anomaly subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:95510"} -synonym: "atrial auricle anomaly" EXACT [Orphanet:95510] +synonym: "atrial auricle anomaly" EXACT [] xref: ICD10CM:Q20.8 {source="Orphanet:95510/ntbt", source="Orphanet:95510"} xref: Orphanet:95510 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -448885,7 +448976,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:95626"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acquired CDI" EXACT [Orphanet:95626] -synonym: "acquired central diabetes insipidus" EXACT [MONDO:patterns/acquired] +synonym: "acquired central diabetes insipidus" EXACT [icd11.foundation:1677009817, MONDO:patterns/acquired] synonym: "acquired neurogenic diabetes insipidus" EXACT [Orphanet:95626] xref: GARD:19291 {source="MONDO:GARD"} xref: ICD10CM:E23.2 {source="MONDO:relatedTo", source="Orphanet:95626/ntbt", source="Orphanet:95626"} @@ -448963,7 +449054,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:19293", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:95709"} subset: rare -synonym: "acquired premature ovarian failure" RELATED [Orphanet:95709] +synonym: "acquired premature ovarian failure" RELATED [] synonym: "acquired primary ovarian failure" EXACT [MONDO:patterns/acquired] xref: GARD:19293 {source="MONDO:GARD"} xref: ICD10CM:E28.8 {source="Orphanet:95709", source="Orphanet:95709/attributed", source="Orphanet:95709/ntbt"} @@ -448987,7 +449078,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "hereditary primary ovarian failure" EXACT [MONDO:patterns/hereditary] synonym: "inherited POI" EXACT [https://orcid.org/0000-0002-0587-4693, PMID:17970776] -synonym: "inherited premature ovarian failure" EXACT [OMIMPS:311360] +synonym: "inherited premature ovarian failure" EXACT [] synonym: "inherited primary ovarian insufficiency" EXACT [https://orcid.org/0000-0002-0587-4693, PMID:17970776] synonym: "non-acquired premature ovarian failure" RELATED [] xref: GARD:19294 {source="MONDO:GARD"} @@ -449011,7 +449102,7 @@ name: obsolete congenital hypothyroidism due to developmental anomaly def: "OBSOLETE. Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth." [Orphanet:95711] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. subset: ordo_group_of_disorders {source="Orphanet:95711"} -synonym: "primary congenital hypothyroidism due to developmental anomaly" EXACT [Orphanet:95711] +synonym: "primary congenital hypothyroidism due to developmental anomaly" EXACT [] xref: ICD10CM:E03.1 {source="Orphanet:95711", source="Orphanet:95711/attributed", source="Orphanet:95711/ntbt"} xref: Orphanet:95711 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -449182,7 +449273,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:95854"} subset: orphanet_rare {source="Orphanet:95854"} subset: rare synonym: "Isolated levocardia with situs inversus" NARROW [GARD:0012032] -synonym: "levocardia-situs inversus" EXACT [Orphanet:95854] +synonym: "levocardia-situs inversus" EXACT [] synonym: "Situs inversus with levocardia" NARROW [GARD:0012032] xref: GARD:12032 {source="MONDO:GARD"} xref: ICD10CM:Q24.1 {source="MONDO:equivalentTo", source="Orphanet:95854", source="Orphanet:95854/e"} @@ -449215,7 +449306,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96055"} subset: orphanet_rare {source="Orphanet:96055"} subset: rare synonym: "Isochromosome 21" EXACT [Orphanet:96055] -synonym: "tetrasomy type 21" EXACT [MONDORULE:2, Orphanet:96055] +synonym: "tetrasomy type 21" EXACT [MONDORULE:2] xref: GARD:12480 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96055/attributed", source="Orphanet:96055/ntbt", source="Orphanet:96055"} xref: icd11.foundation:1246904243 {source="MONDO:equivalentTo"} @@ -449240,7 +449331,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96059"} subset: orphanet_rare {source="Orphanet:96059"} subset: rare synonym: "Mosaic trisomy chromosome 4" EXACT [Orphanet:96059] -synonym: "Mosaic trisomy type 4" EXACT [MONDORULE:1, Orphanet:96059] +synonym: "Mosaic trisomy type 4" EXACT [MONDORULE:1] synonym: "trisomy 4 mosaicism" EXACT [Orphanet:96059] xref: GARD:19300 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:96059", source="Orphanet:96059/attributed", source="Orphanet:96059/ntbt"} @@ -449264,7 +449355,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96060"} subset: orphanet_rare {source="Orphanet:96060"} subset: rare synonym: "Mosaic trisomy chromosome 5" EXACT [Orphanet:96060] -synonym: "Mosaic trisomy type 5" EXACT [MONDORULE:1, Orphanet:96060] +synonym: "Mosaic trisomy type 5" EXACT [MONDORULE:1] synonym: "trisomy 5 mosaicism" EXACT [Orphanet:96060] xref: GARD:19301 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:96060", source="Orphanet:96060/attributed", source="Orphanet:96060/ntbt"} @@ -449290,7 +449381,7 @@ subset: orphanet_rare {source="Orphanet:96061"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Mosaic trisomy chromosome 8" RELATED [GARD:0005359] -synonym: "Mosaic trisomy type 8" EXACT [MONDORULE:1, Orphanet:96061] +synonym: "Mosaic trisomy type 8" EXACT [MONDORULE:1] synonym: "trisomy 8 mosaicism" RELATED [GARD:0005359] synonym: "Warkany syndrome" EXACT [Orphanet:96061] xref: GARD:5359 {source="MONDO:GARD"} @@ -449319,9 +449410,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:96063"} subset: orphanet_rare {source="Orphanet:96063"} subset: rare synonym: "chromosome 10, uniparental disomy" RELATED [GARD:0005406] -synonym: "mosaic trisomy 10" EXACT [GARD:0005406] +synonym: "mosaic trisomy 10" EXACT [GARD:0005406, Orphanet:96063] synonym: "Mosaic trisomy chromosome 10" EXACT [Orphanet:96063] -synonym: "Mosaic trisomy type 10" EXACT [MONDORULE:2, Orphanet:96063] +synonym: "Mosaic trisomy type 10" EXACT [MONDORULE:2] synonym: "trisomy 10 mosaicism" EXACT [Orphanet:96063] synonym: "uniparental disomy of 10" RELATED [GARD:0005406] xref: GARD:19302 {source="MONDO:GARD"} @@ -449347,7 +449438,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96068"} subset: orphanet_rare {source="Orphanet:96068"} subset: rare synonym: "Mosaic trisomy chromosome 22" RELATED [GARD:0006085] -synonym: "Mosaic trisomy type 22" EXACT [MONDORULE:2, Orphanet:96068] +synonym: "Mosaic trisomy type 22" EXACT [MONDORULE:2] synonym: "trisomy 22 mosaicism" RELATED [GARD:0006085] xref: GARD:6085 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:96068", source="Orphanet:96068/attributed", source="Orphanet:96068/ntbt"} @@ -449375,7 +449466,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96069"} subset: orphanet_rare {source="Orphanet:96069"} subset: rare synonym: "distal duplication 1p36" EXACT [Orphanet:96069] -synonym: "distal trisomy type 1p36" EXACT [MONDORULE:7, Orphanet:96069] +synonym: "distal trisomy type 1p36" EXACT [MONDORULE:7] synonym: "telomeric duplication 1p36" EXACT [Orphanet:96069] synonym: "trisomy 1pter" EXACT [Orphanet:96069] xref: GARD:19303 {source="MONDO:GARD"} @@ -449399,7 +449490,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96070"} subset: orphanet_rare {source="Orphanet:96070"} subset: rare synonym: "distal duplication 2p" EXACT [Orphanet:96070] -synonym: "distal trisomy type 2p" EXACT [MONDORULE:4, Orphanet:96070] +synonym: "distal trisomy type 2p" EXACT [MONDORULE:4] synonym: "telomeric duplication 2p" EXACT [Orphanet:96070] synonym: "trisomy 2pter" EXACT [Orphanet:96070] xref: GARD:19304 {source="MONDO:GARD"} @@ -449424,7 +449515,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96071"} subset: orphanet_rare {source="Orphanet:96071"} subset: rare synonym: "distal duplication 3p" EXACT [Orphanet:96071] -synonym: "distal trisomy type 3p" EXACT [MONDORULE:4, Orphanet:96071] +synonym: "distal trisomy type 3p" EXACT [MONDORULE:4] synonym: "telomeric duplication 3p" EXACT [Orphanet:96071] synonym: "trisomy 3pter" EXACT [Orphanet:96071] xref: GARD:19305 {source="MONDO:GARD"} @@ -449473,7 +449564,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96074"} subset: orphanet_rare {source="Orphanet:96074"} subset: rare synonym: "distal duplication 7p" EXACT [Orphanet:96074] -synonym: "distal trisomy type 7p" EXACT [MONDORULE:4, Orphanet:96074] +synonym: "distal trisomy type 7p" EXACT [MONDORULE:4] synonym: "telomeric duplication 7p" EXACT [Orphanet:96074] synonym: "trisomy 7pter" EXACT [Orphanet:96074] xref: GARD:19307 {source="MONDO:GARD"} @@ -449539,7 +449630,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96094"} subset: orphanet_rare {source="Orphanet:96094"} subset: rare synonym: "distal duplication 2q" EXACT [Orphanet:96094] -synonym: "distal trisomy type 2q" EXACT [MONDORULE:4, Orphanet:96094] +synonym: "distal trisomy type 2q" EXACT [MONDORULE:4] synonym: "telomeric duplication 2q" EXACT [Orphanet:96094] synonym: "trisomy 2qter" EXACT [Orphanet:96094] xref: GARD:19310 {source="MONDO:GARD"} @@ -449563,7 +449654,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96095"} subset: orphanet_rare {source="Orphanet:96095"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cornelia de Lange-like syndrome" EXACT [Orphanet:96095] +synonym: "Cornelia de Lange-like syndrome" EXACT [] synonym: "dup(3)(q26)" EXACT [Orphanet:96095] synonym: "dup(3q) syndrome" EXACT [Orphanet:96095] synonym: "trisomy 3q26" EXACT [Orphanet:96095] @@ -449588,7 +449679,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96096"} subset: orphanet_rare {source="Orphanet:96096"} subset: rare synonym: "distal duplication 4q" EXACT [Orphanet:96096] -synonym: "distal trisomy type 4q" EXACT [MONDORULE:4, Orphanet:96096] +synonym: "distal trisomy type 4q" EXACT [MONDORULE:4] synonym: "telomeric duplication 4q" EXACT [Orphanet:96096] synonym: "trisomy 4qter" EXACT [Orphanet:96096] xref: GARD:19312 {source="MONDO:GARD"} @@ -449613,7 +449704,7 @@ subset: orphanet_rare {source="Orphanet:96097"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal duplication 5q" EXACT [Orphanet:96097] -synonym: "distal trisomy type 5q" EXACT [MONDORULE:4, Orphanet:96097] +synonym: "distal trisomy type 5q" EXACT [MONDORULE:4] synonym: "telomeric duplication 5q" EXACT [Orphanet:96097] synonym: "trisomy 5qter" EXACT [Orphanet:96097] xref: GARD:19313 {source="MONDO:GARD"} @@ -449638,7 +449729,7 @@ subset: orphanet_rare {source="Orphanet:96098"} subset: rare synonym: "Chromosome 6, Partial Trisomy 6q" EXACT [NORD:959] synonym: "distal duplication 6q" EXACT [Orphanet:96098] -synonym: "distal trisomy type 6q" EXACT [MONDORULE:4, Orphanet:96098] +synonym: "distal trisomy type 6q" EXACT [MONDORULE:4] synonym: "telomeric duplication 6q" EXACT [Orphanet:96098] synonym: "trisomy 6qter" EXACT [Orphanet:96098] xref: GARD:19314 {source="MONDO:GARD"} @@ -449664,7 +449755,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96100"} subset: orphanet_rare {source="Orphanet:96100"} subset: rare synonym: "distal duplication 8q" EXACT [Orphanet:96100] -synonym: "distal trisomy type 8q" EXACT [MONDORULE:4, Orphanet:96100] +synonym: "distal trisomy type 8q" EXACT [MONDORULE:4] synonym: "telomeric duplication 8q" EXACT [Orphanet:96100] synonym: "trisomy 8qter" EXACT [Orphanet:96100] xref: GARD:19315 {source="MONDO:GARD"} @@ -449688,7 +449779,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96101"} subset: orphanet_rare {source="Orphanet:96101"} subset: rare synonym: "distal duplication 9q" EXACT [Orphanet:96101] -synonym: "distal trisomy type 9q" EXACT [MONDORULE:4, Orphanet:96101] +synonym: "distal trisomy type 9q" EXACT [MONDORULE:4] synonym: "telomeric duplication 9q" EXACT [Orphanet:96101] synonym: "trisomy 9qter" EXACT [Orphanet:96101] xref: GARD:19316 {source="MONDO:GARD"} @@ -449713,7 +449804,7 @@ subset: orphanet_rare {source="Orphanet:96102"} subset: rare synonym: "Chromosome 10, Distal Trisomy 10q" EXACT [NORD:934] synonym: "distal duplication 10q" EXACT [Orphanet:96102] -synonym: "distal trisomy type 10q" EXACT [MONDORULE:4, Orphanet:96102] +synonym: "distal trisomy type 10q" EXACT [MONDORULE:4] synonym: "telomeric duplication 10q" EXACT [Orphanet:96102] synonym: "trisomy 10qter" EXACT [Orphanet:96102] xref: GARD:19317 {source="MONDO:GARD"} @@ -449741,7 +449832,7 @@ subset: orphanet_rare {source="Orphanet:96103"} subset: rare synonym: "Chromosome 11, Partial Trisomy 11q" EXACT [NORD:937] synonym: "distal duplication 11q" EXACT [Orphanet:96103] -synonym: "distal trisomy type 11q" EXACT [MONDORULE:4, Orphanet:96103] +synonym: "distal trisomy type 11q" EXACT [MONDORULE:4] synonym: "telomeric duplication 11q" EXACT [Orphanet:96103] synonym: "trisomy 11qter" EXACT [Orphanet:96103] xref: GARD:19318 {source="MONDO:GARD"} @@ -449768,7 +449859,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96105"} subset: orphanet_rare {source="Orphanet:96105"} subset: rare synonym: "distal duplication 13q" EXACT [Orphanet:96105] -synonym: "distal trisomy type 13q" EXACT [MONDORULE:4, Orphanet:96105] +synonym: "distal trisomy type 13q" EXACT [MONDORULE:4] synonym: "telomeric duplication 13q" EXACT [Orphanet:96105] synonym: "trisomy 13qter" EXACT [Orphanet:96105] xref: GARD:19319 {source="MONDO:GARD"} @@ -449792,7 +449883,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96106"} subset: orphanet_rare {source="Orphanet:96106"} subset: rare synonym: "distal duplication 16q" EXACT [Orphanet:96106] -synonym: "distal trisomy type 16q" EXACT [MONDORULE:4, Orphanet:96106] +synonym: "distal trisomy type 16q" EXACT [MONDORULE:4] synonym: "telomeric duplication 16q" EXACT [Orphanet:96106] synonym: "trisomy 16qter" EXACT [Orphanet:96106] xref: GARD:19320 {source="MONDO:GARD"} @@ -449816,7 +449907,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96107"} subset: orphanet_rare {source="Orphanet:96107"} subset: rare synonym: "distal duplication 20q" EXACT [Orphanet:96107] -synonym: "distal trisomy type 20q" EXACT [MONDORULE:4, Orphanet:96107] +synonym: "distal trisomy type 20q" EXACT [MONDORULE:4] synonym: "telomeric duplication 20q" EXACT [Orphanet:96107] synonym: "trisomy 20qter" EXACT [Orphanet:96107] xref: GARD:19321 {source="MONDO:GARD"} @@ -449840,7 +449931,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96109"} subset: orphanet_rare {source="Orphanet:96109"} subset: rare synonym: "distal duplication 22q" EXACT [Orphanet:96109] -synonym: "distal trisomy type 22q" EXACT [MONDORULE:4, Orphanet:96109] +synonym: "distal trisomy type 22q" EXACT [MONDORULE:4] synonym: "telomeric duplication 22q" EXACT [Orphanet:96109] synonym: "trisomy 22qter" EXACT [Orphanet:96109] xref: GARD:19322 {source="MONDO:GARD"} @@ -449864,7 +449955,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96112"} subset: orphanet_rare {source="Orphanet:96112"} subset: rare synonym: "non-distal duplication 9q" EXACT [Orphanet:96112] -synonym: "non-distal trisomy type 9q" EXACT [MONDORULE:4, Orphanet:96112] +synonym: "non-distal trisomy type 9q" EXACT [MONDORULE:4] synonym: "non-telomeric trisomy 9q" EXACT [Orphanet:96112] xref: GARD:19323 {source="MONDO:GARD"} xref: MEDGEN:1631139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -449888,7 +449979,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Del(22)" EXACT [Orphanet:96123] synonym: "deletion 22" EXACT [Orphanet:96123] -synonym: "monosomy type 22" EXACT [MONDORULE:2, Orphanet:96123] +synonym: "monosomy type 22" EXACT [MONDORULE:2] xref: GARD:19324 {source="MONDO:GARD"} xref: ICD10CM:Q93.0 {source="Orphanet:96123", source="Orphanet:96123/attributed", source="Orphanet:96123/ntbt"} xref: MEDGEN:208644 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -449908,7 +449999,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96126"} subset: orphanet_rare {source="Orphanet:96126"} subset: rare synonym: "distal deletion 7p" EXACT [Orphanet:96126] -synonym: "distal monosomy type 7p" EXACT [MONDORULE:4, Orphanet:96126] +synonym: "distal monosomy type 7p" EXACT [MONDORULE:4] synonym: "monosomy 7pter" EXACT [Orphanet:96126] synonym: "telomeric deletion 7p" EXACT [Orphanet:96126] xref: GARD:19325 {source="MONDO:GARD"} @@ -449948,9 +450039,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0019894 name: obsolete non-distal monosomy 7p comment: Obsolete in Orphanet -synonym: "non-distal deletion 7p" EXACT [Orphanet:96136] -synonym: "non-distal monosomy type 7p" EXACT [MONDORULE:4, Orphanet:96136] -synonym: "non-telomeric monosomy 7p" EXACT [Orphanet:96136] +synonym: "non-distal deletion 7p" EXACT [] +synonym: "non-distal monosomy type 7p" EXACT [MONDORULE:4] +synonym: "non-telomeric monosomy 7p" EXACT [] xref: ICD10CM:Q93.5 {source="Orphanet:96136", source="Orphanet:96136/attributed", source="Orphanet:96136/ntbt"} xref: Orphanet:96136 {source="MONDO:obsoleteEquivalentObsolete"} is_obsolete: true @@ -449966,7 +450057,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96145"} subset: orphanet_rare {source="Orphanet:96145"} subset: rare synonym: "distal deletion 4q" EXACT [Orphanet:96145] -synonym: "distal monosomy type 4q" EXACT [MONDORULE:4, Orphanet:96145] +synonym: "distal monosomy type 4q" EXACT [MONDORULE:4] synonym: "monosomy 4qter" EXACT [Orphanet:96145] synonym: "telomeric deletion 4q" EXACT [Orphanet:96145] xref: GARD:19327 {source="MONDO:GARD"} @@ -450017,7 +450108,7 @@ subset: orphanet_rare {source="Orphanet:96149"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "distal deletion 12q" EXACT [Orphanet:96149] -synonym: "distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96149] +synonym: "distal monosomy type 12q" EXACT [MONDORULE:4] synonym: "monosomy 12qter" EXACT [Orphanet:96149] synonym: "telomeric deletion 12q" EXACT [Orphanet:96149] xref: GARD:19328 {source="MONDO:GARD"} @@ -450041,7 +450132,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96150"} subset: orphanet_rare {source="Orphanet:96150"} subset: rare synonym: "distal deletion 14q" EXACT [Orphanet:96150] -synonym: "distal monosomy type 14q" EXACT [MONDORULE:4, Orphanet:96150] +synonym: "distal monosomy type 14q" EXACT [MONDORULE:4] synonym: "telomeric deletion 14q" EXACT [Orphanet:96150] xref: GARD:19329 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:96150", source="Orphanet:96150/attributed", source="Orphanet:96150/ntbt"} @@ -450056,10 +450147,10 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0019899 name: obsolete distal monosomy 20q -synonym: "distal deletion 20q" EXACT [Orphanet:96152] -synonym: "distal monosomy type 20q" EXACT [MONDORULE:4, Orphanet:96152] -synonym: "monosomy 20qter" EXACT [Orphanet:96152] -synonym: "telomeric deletion 20q" EXACT [Orphanet:96152] +synonym: "distal deletion 20q" EXACT [] +synonym: "distal monosomy type 20q" EXACT [MONDORULE:4] +synonym: "monosomy 20qter" EXACT [] +synonym: "telomeric deletion 20q" EXACT [] xref: ICD10CM:Q93.5 {source="Orphanet:96152/attributed", source="Orphanet:96152/ntbt", source="Orphanet:96152"} xref: Orphanet:96152 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeObsoleteSource"} @@ -450078,7 +450169,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96160"} subset: orphanet_rare {source="Orphanet:96160"} subset: rare synonym: "non-distal deletion 12q" EXACT [Orphanet:96160] -synonym: "non-distal monosomy type 12q" EXACT [MONDORULE:4, Orphanet:96160] +synonym: "non-distal monosomy type 12q" EXACT [MONDORULE:4] synonym: "non-telomeric monosomy 12q" EXACT [Orphanet:96160] xref: GARD:19330 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:96160/attributed", source="Orphanet:96160/ntbt", source="Orphanet:96160"} @@ -450096,9 +450187,9 @@ name: non-distal monosomy 20q subset: gard_rare {source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:96164"} subset: rare -synonym: "non-distal deletion 20q" EXACT [Orphanet:96164] -synonym: "non-distal monosomy type 20q" EXACT [MONDORULE:4, Orphanet:96164] -synonym: "non-telomeric monosomy 20q" EXACT [Orphanet:96164] +synonym: "non-distal deletion 20q" EXACT [] +synonym: "non-distal monosomy type 20q" EXACT [MONDORULE:4] +synonym: "non-telomeric monosomy 20q" EXACT [] xref: ICD10CM:Q93.5 {source="Orphanet:96164/attributed", source="Orphanet:96164/ntbt", source="Orphanet:96164"} xref: Orphanet:96164 {source="MONDO:equivalentObsolete"} is_a: MONDO:0016918 {source="Orphanet:96164"} ! partial deletion of the long arm of chromosome 20 @@ -450118,7 +450209,7 @@ subset: orphanet_rare {source="Orphanet:96168"} subset: rare synonym: "Del(13)(q34)" EXACT [Orphanet:96168] synonym: "distal deletion 13q34" EXACT [Orphanet:96168] -synonym: "monosomy type 13q34" EXACT [MONDORULE:7, Orphanet:96168] +synonym: "monosomy type 13q34" EXACT [MONDORULE:7] synonym: "subtelomeric deletion 13q34" EXACT [Orphanet:96168] xref: GARD:16847 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:96168/attributed", source="Orphanet:96168/ntbt", source="Orphanet:96168"} @@ -450147,8 +450238,8 @@ subset: rare synonym: "chromosome 2 ring" RELATED [GARD:0010837] synonym: "R2" RELATED ABBREVIATION [GARD:0010837] synonym: "Ring 2" RELATED [GARD:0010837] -synonym: "Ring chromosome 2 syndrome" RELATED [Orphanet:96171] -synonym: "Ring chromosome type 2" EXACT [MONDORULE:1, Orphanet:96171] +synonym: "Ring chromosome 2 syndrome" RELATED [] +synonym: "Ring chromosome type 2" EXACT [MONDORULE:1] synonym: "rose cluster 2" EXACT [NCIT:C121981] xref: GARD:10837 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:96171/attributed", source="Orphanet:96171/ntbt", source="Orphanet:96171"} @@ -450174,8 +450265,8 @@ subset: rare synonym: "chromosome 3 ring" RELATED [GARD:0010839] synonym: "R3" RELATED ABBREVIATION [GARD:0010839] synonym: "Ring 3" RELATED [GARD:0010839] -synonym: "Ring chromosome 3 syndrome" RELATED [Orphanet:96172] -synonym: "Ring chromosome type 3" EXACT [MONDORULE:1, Orphanet:96172] +synonym: "Ring chromosome 3 syndrome" RELATED [] +synonym: "Ring chromosome type 3" EXACT [MONDORULE:1] synonym: "rose cluster 3" EXACT [NCIT:C121982] xref: GARD:10839 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:96172", source="Orphanet:96172/attributed", source="Orphanet:96172/ntbt"} @@ -450202,8 +450293,8 @@ synonym: "Chromosome 9 Ring" EXACT [NORD:962] synonym: "chromosome 9 ring" RELATED [GARD:0001348] synonym: "r9" RELATED [GARD:0001348] synonym: "Ring 9" EXACT [GARD:0001348, Orphanet:96173] -synonym: "Ring chromosome 9 syndrome" RELATED [Orphanet:96173] -synonym: "Ring chromosome type 9" EXACT [MONDORULE:1, Orphanet:96173] +synonym: "Ring chromosome 9 syndrome" RELATED [] +synonym: "Ring chromosome type 9" EXACT [MONDORULE:1] xref: GARD:1348 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:96173/attributed", source="Orphanet:96173/ntbt", source="Orphanet:96173"} xref: MEDGEN:539244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -450231,8 +450322,8 @@ synonym: "r(11) syndrome" EXACT [Orphanet:96175] synonym: "r11" RELATED [GARD:0010846] synonym: "RC11" EXACT ABBREVIATION [Orphanet:96175] synonym: "Ring 11" RELATED [GARD:0010846] -synonym: "Ring chromosome 11 syndrome" RELATED [Orphanet:96175] -synonym: "Ring chromosome type 11" EXACT [MONDORULE:2, Orphanet:96175] +synonym: "Ring chromosome 11 syndrome" RELATED [] +synonym: "Ring chromosome type 11" EXACT [MONDORULE:2] xref: GARD:10846 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:96175/attributed", source="Orphanet:96175/ntbt", source="Orphanet:96175"} xref: ICD9:758.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -450258,8 +450349,8 @@ subset: rare synonym: "chromosome 13 ring" RELATED [GARD:0006069] synonym: "R13" RELATED ABBREVIATION [GARD:0006069] synonym: "Ring 13" RELATED [GARD:0006069] -synonym: "Ring chromosome 13 syndrome" RELATED [Orphanet:96176] -synonym: "Ring chromosome type 13" EXACT [MONDORULE:2, Orphanet:96176] +synonym: "Ring chromosome 13 syndrome" RELATED [] +synonym: "Ring chromosome type 13" EXACT [MONDORULE:2] xref: GARD:6069 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:96176/attributed", source="Orphanet:96176/ntbt", source="Orphanet:96176"} xref: MEDGEN:444146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -450288,8 +450379,8 @@ synonym: "Chromosome 15 Ring" EXACT [NORD:941] synonym: "chromosome 15 ring" RELATED [GARD:0001328] synonym: "R15" RELATED ABBREVIATION [GARD:0001328] synonym: "Ring 15" RELATED [GARD:0001328] -synonym: "Ring chromosome 15 syndrome" RELATED [Orphanet:96177] -synonym: "Ring chromosome type 15" EXACT [MONDORULE:2, Orphanet:96177] +synonym: "Ring chromosome 15 syndrome" RELATED [] +synonym: "Ring chromosome type 15" EXACT [MONDORULE:2] xref: GARD:1328 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:96177", source="Orphanet:96177/attributed", source="Orphanet:96177/ntbt"} xref: MEDGEN:1646359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -450315,8 +450406,8 @@ subset: rare synonym: "chromosome 16 ring" RELATED [GARD:0010855] synonym: "R16" RELATED ABBREVIATION [GARD:0010855] synonym: "Ring 16" RELATED [GARD:0010855] -synonym: "Ring chromosome 16 syndrome" RELATED [Orphanet:96178] -synonym: "Ring chromosome type 16" EXACT [MONDORULE:2, Orphanet:96178] +synonym: "Ring chromosome 16 syndrome" RELATED [] +synonym: "Ring chromosome type 16" EXACT [MONDORULE:2] xref: GARD:10855 {source="MONDO:GARD"} xref: ICD10CM:Q93.2 {source="Orphanet:96178", source="Orphanet:96178/attributed", source="Orphanet:96178/ntbt"} xref: MEDGEN:1641955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -450338,7 +450429,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96179"} subset: orphanet_rare {source="Orphanet:96179"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "maternal uniparental disomy of chromosome type 2" EXACT [MONDORULE:1, Orphanet:96179] +synonym: "maternal uniparental disomy of chromosome type 2" EXACT [MONDORULE:1] synonym: "UPD(2)mat" EXACT [Orphanet:96179] xref: GARD:19331 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96179/attributed", source="Orphanet:96179/ntbt", source="Orphanet:96179"} @@ -450361,7 +450452,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96180"} subset: orphanet_rare {source="Orphanet:96180"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "maternal uniparental disomy of chromosome type 4" EXACT [MONDORULE:1, Orphanet:96180] +synonym: "maternal uniparental disomy of chromosome type 4" EXACT [MONDORULE:1] synonym: "UPD(4)mat" EXACT [Orphanet:96180] xref: GARD:19332 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96180", source="Orphanet:96180/attributed", source="Orphanet:96180/ntbt"} @@ -450384,7 +450475,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96181"} subset: orphanet_rare {source="Orphanet:96181"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "maternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96181] +synonym: "maternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1] synonym: "UPD(6)mat" EXACT [Orphanet:96181] xref: GARD:19333 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96181", source="Orphanet:96181/attributed", source="Orphanet:96181/ntbt"} @@ -450406,7 +450497,7 @@ subset: ordo_etiological_subtype {source="Orphanet:96182"} subset: ordo_subtype_of_a_disorder {source="Orphanet:96182"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96182] +synonym: "Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1] synonym: "UPD(7)mat" EXACT [Orphanet:96182] xref: GARD:19334 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:96182/attributed", source="Orphanet:96182/ntbt", source="Orphanet:96182"} @@ -450428,7 +450519,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96183"} subset: orphanet_rare {source="Orphanet:96183"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "maternal uniparental disomy of chromosome type 9" EXACT [MONDORULE:1, Orphanet:96183] +synonym: "maternal uniparental disomy of chromosome type 9" EXACT [MONDORULE:1] synonym: "UPD(9)mat" EXACT [Orphanet:96183] xref: GARD:19335 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96183", source="Orphanet:96183/attributed", source="Orphanet:96183/ntbt"} @@ -450450,7 +450541,7 @@ subset: ordo_etiological_subtype {source="Orphanet:96184"} subset: ordo_subtype_of_a_disorder {source="Orphanet:96184"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "maternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2, Orphanet:96184] +synonym: "maternal uniparental disomy of chromosome type 14" EXACT [MONDORULE:2] synonym: "UPD(14)mat" EXACT [Orphanet:96184] xref: GARD:16848 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96184/attributed", source="Orphanet:96184/ntbt", source="Orphanet:96184"} @@ -450471,7 +450562,7 @@ subset: ordo_disorder {source="Orphanet:96185"} subset: ordo_malformation_syndrome {source="Orphanet:96185"} subset: orphanet_rare {source="Orphanet:96185"} subset: rare -synonym: "maternal uniparental disomy of chromosome type 16" EXACT [MONDORULE:2, Orphanet:96185] +synonym: "maternal uniparental disomy of chromosome type 16" EXACT [MONDORULE:2] synonym: "UPD(16)mat" EXACT [Orphanet:96185] xref: GARD:19336 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96185/attributed", source="Orphanet:96185/ntbt", source="Orphanet:96185"} @@ -450493,12 +450584,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:96186"} subset: orphanet_rare {source="Orphanet:96186"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "maternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:96186] -synonym: "maternal UPD(20)" EXACT [Orphanet:96186] -synonym: "MBCS" RELATED ABBREVIATION [OMIM:617352] -synonym: "MULCHANDANI-BHOJ-CONLIN syndrome" RELATED [OMIM:617352] -synonym: "uniparental disomy, maternal, chromosome 20" RELATED [OMIM:617352] -synonym: "UPD(20)mat" EXACT [Orphanet:96186] +synonym: "maternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2] +synonym: "maternal UPD(20)" EXACT [DOID:0111714, Orphanet:96186] +synonym: "MBCS" RELATED ABBREVIATION [] +synonym: "MULCHANDANI-BHOJ-CONLIN syndrome" RELATED [] +synonym: "uniparental disomy, maternal, chromosome 20" RELATED [] +synonym: "UPD(20)mat" EXACT ABBREVIATION [DOID:0111714, Orphanet:96186] xref: DOID:0111714 {source="MONDO:equivalentTo"} xref: GARD:16849 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96186/attributed", source="Orphanet:96186/ntbt", source="Orphanet:96186"} @@ -450520,7 +450611,7 @@ subset: ordo_disorder {source="Orphanet:96187"} subset: ordo_malformation_syndrome {source="Orphanet:96187"} subset: orphanet_rare {source="Orphanet:96187"} subset: rare -synonym: "maternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96187] +synonym: "maternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2] synonym: "UPD(21)mat" EXACT [Orphanet:96187] xref: GARD:19337 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96187/attributed", source="Orphanet:96187/ntbt", source="Orphanet:96187"} @@ -450540,7 +450631,7 @@ subset: ordo_disorder {source="Orphanet:96188"} subset: ordo_malformation_syndrome {source="Orphanet:96188"} subset: orphanet_rare {source="Orphanet:96188"} subset: rare -synonym: "maternal uniparental disomy of chromosome type 22" EXACT [MONDORULE:2, Orphanet:96188] +synonym: "maternal uniparental disomy of chromosome type 22" EXACT [MONDORULE:2] synonym: "UPD(22)mat" EXACT [Orphanet:96188] xref: GARD:19338 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96188", source="Orphanet:96188/attributed", source="Orphanet:96188/ntbt"} @@ -450562,7 +450653,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96190"} subset: orphanet_rare {source="Orphanet:96190"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "paternal uniparental disomy of chromosome type 5" EXACT [MONDORULE:1, Orphanet:96190] +synonym: "paternal uniparental disomy of chromosome type 5" EXACT [MONDORULE:1] synonym: "UPD(5)pat" EXACT [Orphanet:96190] xref: GARD:19339 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96190", source="Orphanet:96190/attributed", source="Orphanet:96190/ntbt"} @@ -450584,7 +450675,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:96191"} subset: orphanet_rare {source="Orphanet:96191"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "paternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1, Orphanet:96191] +synonym: "paternal uniparental disomy of chromosome type 6" EXACT [MONDORULE:1] synonym: "UPD(6)pat" EXACT [Orphanet:96191] xref: GARD:19340 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96191", source="Orphanet:96191/attributed", source="Orphanet:96191/ntbt"} @@ -450605,7 +450696,7 @@ subset: ordo_disorder {source="Orphanet:96192"} subset: ordo_malformation_syndrome {source="Orphanet:96192"} subset: orphanet_rare {source="Orphanet:96192"} subset: rare -synonym: "paternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1, Orphanet:96192] +synonym: "paternal uniparental disomy of chromosome type 7" EXACT [MONDORULE:1] synonym: "UPD(7)pat" EXACT [Orphanet:96192] xref: GARD:19341 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96192", source="Orphanet:96192/attributed", source="Orphanet:96192/ntbt"} @@ -450625,7 +450716,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype {source="Orphanet:96193"} subset: ordo_subtype_of_a_disorder {source="Orphanet:96193"} subset: rare -synonym: "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2, Orphanet:96193] +synonym: "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11" EXACT [MONDORULE:2] synonym: "Mosaic paternal uniparental disomy of chromosome 11" EXACT [Orphanet:96193] synonym: "UPD(11)pat" EXACT [Orphanet:96193] xref: GARD:19342 {source="MONDO:GARD"} @@ -450647,9 +450738,9 @@ subset: ordo_disorder {source="Orphanet:96194"} subset: ordo_malformation_syndrome {source="Orphanet:96194"} subset: orphanet_rare {source="Orphanet:96194"} subset: rare -synonym: "paternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2, Orphanet:96194] +synonym: "paternal uniparental disomy of chromosome type 20" EXACT [MONDORULE:2] synonym: "paternal UPD(20)" EXACT [Orphanet:96194] -synonym: "paternal UPD20" EXACT [Orphanet:96194] +synonym: "paternal UPD20" EXACT [] synonym: "UPD(20)pat" EXACT [Orphanet:96194] xref: GARD:19343 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96194", source="Orphanet:96194/attributed", source="Orphanet:96194/ntbt"} @@ -450671,7 +450762,7 @@ subset: ordo_disorder {source="Orphanet:96195"} subset: ordo_malformation_syndrome {source="Orphanet:96195"} subset: orphanet_rare {source="Orphanet:96195"} subset: rare -synonym: "paternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2, Orphanet:96195] +synonym: "paternal uniparental disomy of chromosome type 21" EXACT [MONDORULE:2] synonym: "UPD(21)pat" EXACT [Orphanet:96195] xref: GARD:19344 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:96195/attributed", source="Orphanet:96195/ntbt", source="Orphanet:96195"} @@ -450710,57 +450801,57 @@ def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that p subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "growth hormone producing neoplasm of pituitary" EXACT [NCIT:C7911] -synonym: "growth hormone producing neoplasm of pituitary gland" EXACT [NCIT:C7911] -synonym: "growth hormone producing neoplasm of the pituitary" EXACT [NCIT:C7911] -synonym: "growth hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7911] -synonym: "growth hormone producing pituitary gland neoplasm" EXACT [NCIT:C7911] -synonym: "growth hormone producing pituitary gland tumor" EXACT [NCIT:C7911] +synonym: "growth hormone producing neoplasm of pituitary" EXACT [] +synonym: "growth hormone producing neoplasm of pituitary gland" EXACT [] +synonym: "growth hormone producing neoplasm of the pituitary" EXACT [] +synonym: "growth hormone producing neoplasm of the pituitary gland" EXACT [] +synonym: "growth hormone producing pituitary gland neoplasm" EXACT [] +synonym: "growth hormone producing pituitary gland tumor" EXACT [] synonym: "growth hormone producing pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "growth hormone producing pituitary neoplasm" EXACT [NCIT:C7911] -synonym: "growth hormone producing pituitary tumor" EXACT [NCIT:C7911] +synonym: "growth hormone producing pituitary neoplasm" EXACT [] +synonym: "growth hormone producing pituitary tumor" EXACT [] synonym: "growth hormone producing pituitary tumour" EXACT OMO:0003005 [] -synonym: "growth hormone producing tumor" EXACT [NCIT:C7911] -synonym: "growth hormone producing tumor of pituitary" EXACT [NCIT:C7911] -synonym: "growth hormone producing tumor of pituitary gland" EXACT [NCIT:C7911] -synonym: "growth hormone producing tumor of the pituitary" EXACT [NCIT:C7911] -synonym: "growth hormone producing tumor of the pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone producing tumor" EXACT [] +synonym: "growth hormone producing tumor of pituitary" EXACT [] +synonym: "growth hormone producing tumor of pituitary gland" EXACT [] +synonym: "growth hormone producing tumor of the pituitary" EXACT [] +synonym: "growth hormone producing tumor of the pituitary gland" EXACT [] synonym: "growth hormone producing tumour" EXACT OMO:0003005 [] synonym: "growth hormone producing tumour of pituitary" EXACT OMO:0003005 [] synonym: "growth hormone producing tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "growth hormone producing tumour of the pituitary" EXACT OMO:0003005 [] synonym: "growth hormone producing tumour of the pituitary gland" EXACT OMO:0003005 [] -synonym: "growth hormone secreting neoplasm of pituitary" EXACT [NCIT:C7911] -synonym: "growth hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7911] -synonym: "growth hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7911] -synonym: "growth hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7911] -synonym: "growth hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7911] -synonym: "growth hormone secreting pituitary gland tumor" EXACT [NCIT:C7911] +synonym: "growth hormone secreting neoplasm of pituitary" EXACT [] +synonym: "growth hormone secreting neoplasm of pituitary gland" EXACT [] +synonym: "growth hormone secreting neoplasm of the pituitary" EXACT [] +synonym: "growth hormone secreting neoplasm of the pituitary gland" EXACT [] +synonym: "growth hormone secreting pituitary gland neoplasm" EXACT [] +synonym: "growth hormone secreting pituitary gland tumor" EXACT [] synonym: "growth hormone secreting pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "growth hormone secreting pituitary neoplasm" EXACT [NCIT:C7911] -synonym: "growth hormone secreting pituitary tumor" EXACT [NCIT:C7911] +synonym: "growth hormone secreting pituitary neoplasm" EXACT [] +synonym: "growth hormone secreting pituitary tumor" EXACT [] synonym: "growth hormone secreting pituitary tumour" EXACT OMO:0003005 [] -synonym: "growth hormone secreting tumor of pituitary" EXACT [NCIT:C7911] -synonym: "growth hormone secreting tumor of pituitary gland" EXACT [NCIT:C7911] -synonym: "growth hormone secreting tumor of the pituitary" EXACT [NCIT:C7911] -synonym: "growth hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone secreting tumor of pituitary" EXACT [] +synonym: "growth hormone secreting tumor of pituitary gland" EXACT [] +synonym: "growth hormone secreting tumor of the pituitary" EXACT [] +synonym: "growth hormone secreting tumor of the pituitary gland" EXACT [] synonym: "growth hormone secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "growth hormone secreting tumour of pituitary gland" EXACT OMO:0003005 [] synonym: "growth hormone secreting tumour of the pituitary" EXACT OMO:0003005 [] synonym: "growth hormone secreting tumour of the pituitary gland" EXACT OMO:0003005 [] -synonym: "growth hormone-producing pituitary gland neoplasm" EXACT [NCIT:C7911] -synonym: "Growth hormone-producing pituitary gland tumor" EXACT [NCIT:C7911] +synonym: "growth hormone-producing pituitary gland neoplasm" EXACT [] +synonym: "Growth hormone-producing pituitary gland tumor" EXACT [] synonym: "Growth hormone-producing pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "pituitary gland somatotropinoma" EXACT [NCIT:C7911] -synonym: "pituitary somatotropinoma" EXACT [NCIT:C7911] -synonym: "somatotroph neoplasm" EXACT [NCIT:C7911] -synonym: "somatotroph tumor" EXACT [NCIT:C7911] +synonym: "pituitary gland somatotropinoma" EXACT [] +synonym: "pituitary somatotropinoma" EXACT [] +synonym: "somatotroph neoplasm" EXACT [] +synonym: "somatotroph tumor" EXACT [] synonym: "somatotroph tumour" EXACT OMO:0003005 [] -synonym: "somatotropinoma" EXACT [NCIT:C7911, Orphanet:96256] -synonym: "somatotropinoma of pituitary" EXACT [NCIT:C7911] -synonym: "somatotropinoma of pituitary gland" EXACT [NCIT:C7911] -synonym: "somatotropinoma of the pituitary" EXACT [NCIT:C7911] -synonym: "somatotropinoma of the pituitary gland" EXACT [NCIT:C7911] +synonym: "somatotropinoma" EXACT [] +synonym: "somatotropinoma of pituitary" EXACT [] +synonym: "somatotropinoma of pituitary gland" EXACT [] +synonym: "somatotropinoma of the pituitary" EXACT [] +synonym: "somatotropinoma of the pituitary gland" EXACT [] xref: MEDGEN:866320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7911 {source="MONDO:equivalentObsolete"} xref: UMLS:C4018860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:866320"} @@ -450838,17 +450929,17 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:96265"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "46,XY disorder of sex development due to complete LH receptor inactivation" EXACT [Orphanet:96265] -synonym: "46,XY disorder of sex development due to complete LH resistance" EXACT [Orphanet:96265] -synonym: "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265] -synonym: "46,XY disorder of sex development due to complete luteinizing hormone resistance" EXACT [Orphanet:96265] -synonym: "46,XY DSD due to complete LH receptor inactivation" EXACT [Orphanet:96265] -synonym: "46,XY DSD due to complete LH resistance" EXACT [Orphanet:96265] -synonym: "46,XY DSD due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265] -synonym: "46,XY DSD due to complete luteinizing hormone resistance" EXACT [Orphanet:96265] -synonym: "Leydig cell hypoplasia due to complete LH receptor inactivation" EXACT [Orphanet:96265] -synonym: "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation" EXACT [Orphanet:96265] -synonym: "Leydig cell hypoplasia due to complete luteinizing hormone resistance" EXACT [Orphanet:96265] +synonym: "46,XY disorder of sex development due to complete LH receptor inactivation" EXACT [DOID:0112260, Orphanet:96265] +synonym: "46,XY disorder of sex development due to complete LH resistance" EXACT [DOID:0112260, Orphanet:96265] +synonym: "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" EXACT [DOID:0112260, Orphanet:96265] +synonym: "46,XY disorder of sex development due to complete luteinizing hormone resistance" EXACT [DOID:0112260, Orphanet:96265] +synonym: "46,XY DSD due to complete LH receptor inactivation" EXACT [DOID:0112260, Orphanet:96265] +synonym: "46,XY DSD due to complete LH resistance" EXACT [DOID:0112260, Orphanet:96265] +synonym: "46,XY DSD due to complete luteinizing hormone receptor inactivation" EXACT [DOID:0112260, Orphanet:96265] +synonym: "46,XY DSD due to complete luteinizing hormone resistance" EXACT [DOID:0112260, Orphanet:96265] +synonym: "Leydig cell hypoplasia due to complete LH receptor inactivation" EXACT [DOID:0112260, Orphanet:96265] +synonym: "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation" EXACT [DOID:0112260, Orphanet:96265] +synonym: "Leydig cell hypoplasia due to complete luteinizing hormone resistance" EXACT [DOID:0112260, Orphanet:96265] xref: DOID:0112260 {source="MONDO:equivalentTo"} xref: GARD:16851 {source="MONDO:GARD"} xref: ICD10CM:Q56.1 {source="Orphanet:96265", source="Orphanet:96265/attributed", source="Orphanet:96265/ntbt"} @@ -450865,15 +450956,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:96266"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "46,XY disorder of sex development due to partial LH receptor inactivation" EXACT [Orphanet:96266] -synonym: "46,XY disorder of sex development due to partial LH resistance" EXACT [Orphanet:96266] -synonym: "46,XY disorder of sex development due to partial luteinizing hormone resistance" EXACT [Orphanet:96266] -synonym: "46,XY DSD due to partial LH receptor inactivation" EXACT [Orphanet:96266] -synonym: "46,XY DSD due to partial LH resistance" EXACT [Orphanet:96266] -synonym: "46,XY DSD due to partial luteinizing hormone resistance" EXACT [Orphanet:96266] -synonym: "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT [Orphanet:96266] -synonym: "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT [Orphanet:96266] -synonym: "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT [Orphanet:96266] +synonym: "46,XY disorder of sex development due to partial LH receptor inactivation" EXACT [DOID:0112261] +synonym: "46,XY disorder of sex development due to partial LH resistance" EXACT [DOID:0112261] +synonym: "46,XY disorder of sex development due to partial luteinizing hormone resistance" EXACT [DOID:0112261] +synonym: "46,XY DSD due to partial LH receptor inactivation" EXACT [DOID:0112261, Orphanet:96266] +synonym: "46,XY DSD due to partial LH resistance" EXACT [DOID:0112261, Orphanet:96266] +synonym: "46,XY DSD due to partial luteinizing hormone resistance" EXACT [DOID:0112261, Orphanet:96266] +synonym: "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT [DOID:0112261, Orphanet:96266] +synonym: "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT [DOID:0112261, Orphanet:96266] +synonym: "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT [DOID:0112261, Orphanet:96266] xref: DOID:0112261 {source="MONDO:equivalentTo"} xref: GARD:16852 {source="MONDO:GARD"} xref: ICD10CM:Q56.1 {source="Orphanet:96266", source="Orphanet:96266/attributed", source="Orphanet:96266/ntbt"} @@ -450892,7 +450983,7 @@ subset: ordo_disorder {source="Orphanet:96269"} subset: ordo_morphological_anomaly {source="Orphanet:96269"} subset: orphanet_rare {source="Orphanet:96269"} subset: rare -synonym: "congenital absence of vagina" EXACT [Orphanet:96269] +synonym: "congenital absence of vagina" EXACT [icd11.foundation:15782, Orphanet:96269] xref: GARD:19347 {source="MONDO:GARD"} xref: ICD10CM:Q52.0 {source="Orphanet:96269/ntbt", source="Orphanet:96269"} xref: icd11.foundation:15782 {source="Orphanet:96269", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -450966,7 +451057,7 @@ subset: gard_rare {source="GARD:19349", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:96325"} subset: rare -synonym: "Isochromosome type Y" EXACT [MONDORULE:1, Orphanet:96325] +synonym: "Isochromosome type Y" EXACT [MONDORULE:1] xref: GARD:19349 {source="MONDO:GARD"} xref: ICD10CM:Q98.6 {source="Orphanet:96325/attributed", source="Orphanet:96325/ntbt", source="Orphanet:96325"} xref: icd11.foundation:939997307 {source="MONDO:equivalentTo"} @@ -451035,9 +451126,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:966"} subset: rare synonym: "acromegaloid facial appearance syndrome and hypertrichosis" RELATED [GARD:0000502] synonym: "acromegaloid hypertrichosis syndrome" RELATED [GARD:0000502] -synonym: "haff" EXACT [Orphanet:966] -synonym: "hypertrichosis-acromegaloid facial features syndrome" EXACT [Orphanet:966] -synonym: "hypertrichosis-coarse face syndrome" EXACT [Orphanet:966] +synonym: "haff" EXACT [] +synonym: "hypertrichosis-acromegaloid facial features syndrome" EXACT [] +synonym: "hypertrichosis-coarse face syndrome" EXACT [] xref: GARD:502 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:966/attributed", source="Orphanet:966/ntbt", source="Orphanet:966"} xref: Orphanet:966 {source="MONDO:equivalentObsolete"} @@ -451059,7 +451150,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal recessive sensory radicular neuropathy" EXACT [Orphanet:970] synonym: "Giaccai type acroosteolysis" RELATED [GARD:0003976] -synonym: "Hereditary Sensory and Autonomic Neuropathy Type II" EXACT [NORD:1235] +synonym: "Hereditary Sensory and Autonomic Neuropathy Type II" EXACT [DOID:0070161, NORD:1235, Orphanet:970] synonym: "hereditary sensory and autonomic neuropathy type II" EXACT [DOID:0070161, Orphanet:970] synonym: "hereditary sensory neuropathy type 2" RELATED [GARD:0003976] synonym: "hereditary sensory radicular neuropathy, recessive form" RELATED [GARD:0003976] @@ -451090,10 +451181,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:97120"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis multiplex congenita" RELATED EXCLUDE [DOID:0050646] +synonym: "arthrogryposis multiplex congenita" RELATED EXCLUDE [] synonym: "arthrogryposis multiplex congenita distal" RELATED [GARD:0000786] -synonym: "freeman-Sheldon syndrome" RELATED EXCLUDE [DOID:0050646] -synonym: "freeman-Sheldon syndrome variant" RELATED EXCLUDE [DOID:0050646] +synonym: "freeman-Sheldon syndrome" RELATED EXCLUDE [] +synonym: "freeman-Sheldon syndrome variant" RELATED EXCLUDE [] xref: DOID:0050646 {source="MONDO:equivalentTo"} xref: GARD:786 {source="MONDO:GARD"} xref: ICD10CM:Q68.8 {source="Orphanet:97120/attributed", source="Orphanet:97120/ntbt", source="Orphanet:97120"} @@ -451199,15 +451290,15 @@ subset: rare synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3" EXACT [MONDO:design_pattern] synonym: "CAV3 autosomal dominant limb-girdle muscular dystrophy" EXACT DEPRECATED [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CAV3 rippling muscle disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LGMD1C" EXACT DEPRECATED [DOID:0110302, MONDO:Lexical, OMIM:607801, Orphanet:265] -synonym: "limb-girdle muscular dystrophy due to caveolin-3 deficiency" EXACT DEPRECATED [DOID:0110302, Orphanet:265] +synonym: "LGMD1C" EXACT DEPRECATED [MONDO:Lexical] +synonym: "limb-girdle muscular dystrophy due to caveolin-3 deficiency" EXACT DEPRECATED [] synonym: "limb-girdle muscular dystrophy type 1C" RELATED DEPRECATED [GARD:0012527] -synonym: "muscular dystrophy limb-girdle type IC" EXACT DEPRECATED [DOID:0110302] -synonym: "muscular dystrophy, limb-girdle, type 1C" RELATED DEPRECATED [MONDO:Lexical, OMIM:607801] +synonym: "muscular dystrophy limb-girdle type IC" EXACT DEPRECATED [] +synonym: "muscular dystrophy, limb-girdle, type 1C" RELATED DEPRECATED [MONDO:Lexical] synonym: "muscular dystrophy, limb-girdle, type IC" RELATED DEPRECATED [GARD:0012527] -synonym: "rippling muscle disease 2" EXACT [NCIT:C148325] +synonym: "rippling muscle disease 2" EXACT [DOID:0060255, NCIT:C148325, OMIM:606072] synonym: "rippling muscle disease caused by mutation in CAV3" EXACT [MONDO:design_pattern] -synonym: "rippling muscle disease type 2" EXACT [DOID:0060255, MONDORULE:1] +synonym: "rippling muscle disease type 2" EXACT [MONDORULE:1] synonym: "RMD2" EXACT ABBREVIATION [NCIT:C148325, OMIM:606072] xref: DOID:0060255 {source="MONDO:equivalentTo"} xref: GARD:9164 {source="MONDO:GARD"} @@ -451325,7 +451416,7 @@ subset: ordo_group_of_disorders {source="Orphanet:97245"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Batten Turner congenital myopathy" RELATED [GARD:0005898] -synonym: "congenital myopathy" EXACT CLINGEN_LABEL [] +synonym: "congenital myopathy" EXACT CLINGEN_LABEL [DOID:0081337, Orphanet:97245] synonym: "myopathy congenital" RELATED [GARD:0005898] xref: DOID:0080100 {source="MONDO:equivalentObsolete"} xref: DOID:0081337 {source="MONDO:equivalentTo"} @@ -451373,25 +451464,25 @@ subset: ordo_group_of_disorders {source="Orphanet:97253"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "islet cell tumor" EXACT [NCIT:C27720] -synonym: "islet cell tumors - pancreas" EXACT [NCIT:C27720] -synonym: "islet cell tumors of the pancreas" EXACT [NCIT:C27720] +synonym: "islet cell tumors - pancreas" EXACT [] +synonym: "islet cell tumors of the pancreas" EXACT [] synonym: "islet cell tumour" EXACT OMO:0003005 [] synonym: "islet cell tumours - pancreas" EXACT OMO:0003005 [] synonym: "islet cell tumours of the pancreas" EXACT OMO:0003005 [] -synonym: "neuroendocrine tumor of pancreas" RELATED [Orphanet:97253] +synonym: "neuroendocrine tumor of pancreas" RELATED [] synonym: "neuroendocrine tumour of pancreas" RELATED OMO:0003005 [] synonym: "pancreatic endocrine tumor" RELATED [GARD:0013034] synonym: "pancreatic endocrine tumour" RELATED OMO:0003005 [] -synonym: "pancreatic NET" EXACT [NCIT:C27720] -synonym: "pancreatic neuroendocrine tumor" EXACT [MONDO:0006048, NCIT:C27720] +synonym: "pancreatic NET" EXACT [NCIT:C27720, Orphanet:97253] +synonym: "pancreatic neuroendocrine tumor" EXACT [MONDO:0006048, NCIT:C27720, Orphanet:97253] synonym: "PANET" RELATED ABBREVIATION [ONCOTREE:PANET] synonym: "well differentiated pancreatic endocrine neoplasm" EXACT [NCIT:C27720] -synonym: "well differentiated pancreatic endocrine tumor" EXACT [NCIT:C27720] +synonym: "well differentiated pancreatic endocrine tumor" EXACT [] synonym: "well differentiated pancreatic endocrine tumour" EXACT OMO:0003005 [] synonym: "well-differentiated NEN of pancreas" EXACT [Orphanet:97253] synonym: "well-differentiated neuroendocrine neoplasm of pancreas" EXACT [Orphanet:97253] synonym: "well-differentiated pancreatic NEN" EXACT [Orphanet:97253] -synonym: "well-differentiated pancreatic neuroendocrine neoplasm" EXACT [Orphanet:97253] +synonym: "well-differentiated pancreatic neuroendocrine neoplasm" EXACT [NCIT:C27720, Orphanet:97253] xref: EFO:1000045 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:13034 {source="MONDO:GARD"} xref: ICD10CM:E16.8 {source="Orphanet:97253/ntbt", source="Orphanet:97253"} @@ -451418,7 +451509,7 @@ subset: rare synonym: "GRF tumor" EXACT [Orphanet:97261] synonym: "GRF tumour" EXACT OMO:0003005 [] synonym: "Growth hormone releasing factor tumor" EXACT [Orphanet:97261] -synonym: "Growth hormone releasing factor tumour" EXACT OMO:0003005 [] +synonym: "Growth hormone releasing factor tumour" EXACT OMO:0003005 [icd11.foundation:1245945716] xref: GARD:19356 {source="MONDO:GARD"} xref: ICD10CM:E16.8 {source="Orphanet:97261", source="Orphanet:97261/ntbt"} xref: icd11.foundation:1245945716 {source="MONDO:equivalentTo"} @@ -451470,7 +451561,7 @@ subset: rare synonym: "pancreatic polypeptide neoplasm" EXACT [NCIT:C67453] synonym: "pancreatic polypeptide tumor" EXACT [NCIT:C67453] synonym: "pancreatic polypeptide tumour" EXACT OMO:0003005 [] -synonym: "pancreatic polypeptidoma" EXACT [Orphanet:97278] +synonym: "pancreatic polypeptidoma" EXACT [icd11.foundation:1180851464, Orphanet:97278] xref: GARD:19358 {source="MONDO:GARD"} xref: ICD10CM:E16.8 {source="Orphanet:97278", source="Orphanet:97278/ntbt"} xref: icd11.foundation:1180851464 {source="MONDO:equivalentTo"} @@ -451498,7 +451589,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:97280"} subset: orphanet_rare {source="Orphanet:97280"} subset: rare -synonym: "glucagonoma" EXACT [NCIT:C95597] +synonym: "glucagonoma" EXACT [icd11.foundation:1918063179, NCIT:C95597, Orphanet:97280] synonym: "glucagonoma syndrome" EXACT [Orphanet:97280] synonym: "pancreatic glucagonoma" EXACT [NCIT:C95597] xref: GARD:2496 {source="MONDO:GARD"} @@ -451528,7 +451619,7 @@ synonym: "Diarrheogenic islet cell tumor" EXACT [Orphanet:97282] synonym: "Diarrheogenic islet cell tumour" EXACT OMO:0003005 [] synonym: "malignant vasoactive intestinal peptide-secreting tumor" EXACT [DOID:5574] synonym: "malignant vasoactive intestinal peptide-secreting tumour" EXACT OMO:0003005 [] -synonym: "pancreatic cholera" RELATED [GARD:0003787, Orphanet:97282] +synonym: "pancreatic cholera" RELATED [GARD:0003787] synonym: "pancreatic vipoma" RELATED [GARD:0005493] synonym: "vasoactive intestinal peptide (VIP) tumor" RELATED [GARD:0005493] synonym: "vasoactive intestinal peptide (VIP) tumour" RELATED OMO:0003005 [] @@ -451550,11 +451641,11 @@ synonym: "VIP-producing neuroendocrine tumor" EXACT [NCIT:C26749] synonym: "VIP-producing neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "VIP-secreting tumor" EXACT [Orphanet:97282] synonym: "VIP-secreting tumour" EXACT OMO:0003005 [] -synonym: "VIPoma" EXACT [NCIT:C26749] +synonym: "VIPoma" EXACT [DOID:5574, icd11.foundation:20634476, NCIT:C26749, Orphanet:97282] synonym: "VIPoma, malignant" EXACT [DOID:5574] synonym: "watery diarrhea, hypokalemia, and achlorhydria syndrome" RELATED [GARD:0003787] -synonym: "watery diarrhea-hypokalemia-achlorhydria syndrome" RELATED [Orphanet:97282] -synonym: "WDHA syndrome" RELATED [Orphanet:97282] +synonym: "watery diarrhea-hypokalemia-achlorhydria syndrome" RELATED [] +synonym: "WDHA syndrome" RELATED [] xref: DOID:5574 {source="MONDO:equivalentTo"} xref: GARD:3787 {source="MONDO:GARD"} xref: ICD10CM:E16.8 {source="Orphanet:97282/ntbt", source="Orphanet:97282"} @@ -451596,7 +451687,7 @@ synonym: "lymphoma of thyroid" EXACT [NCIT:C5265] synonym: "lymphoma of thyroid gland" EXACT [NCIT:C5265] synonym: "primary thyroid gland lymphoma" EXACT [NCIT:C5265] synonym: "thyroid gland lymphoma" EXACT [MONDO:patterns/location, NCIT:C5265] -synonym: "thyroid lymphoma" EXACT [NCIT:C5265] +synonym: "thyroid lymphoma" EXACT [DOID:10011, icd11.foundation:571063415, NCIT:C5265, Orphanet:97285] xref: DOID:10011 {source="MONDO:equivalentTo"} xref: GARD:19359 {source="MONDO:GARD"} xref: icd11.foundation:571063415 {source="MONDO:equivalentTo"} @@ -451620,7 +451711,7 @@ subset: ordo_disorder {source="Orphanet:97287"} subset: orphanet_rare {source="Orphanet:97287"} subset: rare synonym: "bronchial NET" EXACT [Orphanet:97287] -synonym: "bronchial neuroendocrine tumor" RELATED [Orphanet:97287] +synonym: "bronchial neuroendocrine tumor" RELATED [] synonym: "bronchial neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "bronchus NET" EXACT [MONDO:patterns/neuroendocrine_neoplasm] synonym: "bronchus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] @@ -451693,7 +451784,7 @@ synonym: "bilateral Kienbock's disease" RELATED [GARD:0009690] synonym: "Kienbock's disease" RELATED [GARD:0009690] synonym: "Kienböck Disease" EXACT [NORD:1332] synonym: "Lunatomalacia" EXACT [Orphanet:97332] -synonym: "osteochondritis of the lunate bone" EXACT [Orphanet:97332] +synonym: "osteochondritis of the lunate bone" EXACT [] synonym: "Osteochondrosis of the lunate bone" EXACT [Orphanet:97332] xref: GARD:9690 {source="MONDO:GARD"} xref: ICD10CM:M92.2 {source="Orphanet:97332", source="Orphanet:97332/ntbt"} @@ -451771,8 +451862,8 @@ subset: ordo_disorder {source="Orphanet:97339"} subset: ordo_morphological_anomaly {source="Orphanet:97339"} subset: orphanet_rare {source="Orphanet:97339"} subset: rare -synonym: "cranial dural arteriovenous fistula" EXACT [Orphanet:97339] -synonym: "cranial dural arteriovenous malformations" EXACT [Orphanet:97339] +synonym: "cranial dural arteriovenous fistula" EXACT [icd11.foundation:454640405, Orphanet:97339] +synonym: "cranial dural arteriovenous malformations" EXACT [icd11.foundation:454640405, Orphanet:97339] xref: GARD:19368 {source="MONDO:GARD"} xref: ICD10CM:Q28.3 {source="Orphanet:97339", source="Orphanet:97339/ntbt"} xref: icd11.foundation:454640405 {source="MONDO:equivalentTo"} @@ -451816,7 +451907,7 @@ subset: orphanet_rare {source="Orphanet:97352"} subset: rare synonym: "niacin deficiency" EXACT [DOID:8457] synonym: "niacin-tryptophan deficiency" EXACT [DOID:8457] -synonym: "pellagra" EXACT [DOID:8457] +synonym: "pellagra" EXACT [DOID:8457, icd11.foundation:1108993080, Orphanet:97352] xref: DOID:8457 {source="MONDO:equivalentTo"} xref: GARD:10014 {source="MONDO:GARD"} xref: ICD10CM:E52 {source="DOID:8457", source="Orphanet:97352/e", source="Orphanet:97352"} @@ -451849,7 +451940,7 @@ subset: ordo_disorder {source="Orphanet:97353"} subset: orphanet_rare {source="Orphanet:97353"} subset: rare synonym: "Boxer's dementia" EXACT [Orphanet:97353] -synonym: "chronic traumatic encephalopathy" EXACT [Orphanet:97353] +synonym: "chronic traumatic encephalopathy" EXACT [DOID:0081291, Orphanet:97353] synonym: "punch-drunk syndrome" EXACT [Orphanet:97353] xref: DOID:0081291 {source="MONDO:equivalentTo"} xref: GARD:19371 {source="MONDO:GARD"} @@ -452194,7 +452285,7 @@ subset: ordo_disorder {source="Orphanet:97598"} subset: orphanet_rare {source="Orphanet:97598"} subset: rare synonym: "congenital RAS" EXACT [PMID:25316474] -synonym: "congenital renovascular hypoplasia" EXACT [Orphanet:97598] +synonym: "congenital renovascular hypoplasia" EXACT [icd11.foundation:856359002, Orphanet:97598] xref: GARD:19381 {source="MONDO:GARD"} xref: ICD10CM:Q27.1 {source="Orphanet:97598", source="MONDO:equivalentTo", source="Orphanet:97598/e"} xref: icd11.foundation:856359002 {source="Orphanet:97598", source="MONDO:equivalentTo"} @@ -452216,7 +452307,7 @@ subset: ordo_disorder {source="Orphanet:97678"} subset: ordo_malformation_syndrome {source="Orphanet:97678"} subset: orphanet_rare {source="Orphanet:97678"} subset: rare -synonym: "maternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:97678] +synonym: "maternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2] synonym: "UPD(13)mat" EXACT [Orphanet:97678] xref: GARD:19382 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:97678/attributed", source="Orphanet:97678/ntbt", source="Orphanet:97678"} @@ -452410,7 +452501,7 @@ name: obsolete rare neurologic disease def: "OBSOLETE. Rare nervous system disease." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98006"} -synonym: "rare nervous system disease" EXACT [MONDO:patterns/rare, Orphanet:98006] +synonym: "rare nervous system disease" EXACT [MONDO:patterns/rare] synonym: "rare nervous system disorder" EXACT [MONDO:patterns/rare] xref: Orphanet:98006 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -452442,7 +452533,7 @@ name: obsolete rare headache disorder def: "OBSOLETE. Rare headache disorder." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98022"} -synonym: "rare headache" EXACT [Orphanet:98022] +synonym: "rare headache" EXACT [] synonym: "rare headache disorder" EXACT [MONDO:patterns/rare] xref: Orphanet:98022 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -452631,7 +452722,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98050"} synonym: "rare allergic disease" EXACT [MONDO:patterns/rare] synonym: "rare allergic hypersensitivity disease" EXACT [] -synonym: "rare allergy" EXACT [Orphanet:98050] +synonym: "rare allergy" EXACT [] xref: Orphanet:98050 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452644,7 +452735,7 @@ def: "OBSOLETE. Rare respiratory allergy." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98052"} synonym: "rare allergic respiratory disease" EXACT [MONDO:patterns/rare] -synonym: "rare respiratory allergy" EXACT [Orphanet:98052] +synonym: "rare respiratory allergy" EXACT [] xref: Orphanet:98052 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452679,7 +452770,7 @@ def: "OBSOLETE. Rare disease of cellular proliferation." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98057"} synonym: "rare disease of cellular proliferation" EXACT [] -synonym: "rare neoplasm" EXACT [Orphanet:98057] +synonym: "rare neoplasm" EXACT [] synonym: "rare neoplasm (disease)" EXACT [MONDO:patterns/rare] xref: Orphanet:98057 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -452693,8 +452784,8 @@ def: "OBSOLETE. Rare urinary system benign neoplasm." [] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98058"} synonym: "rare urinary system neoplasm" EXACT [MONDO:patterns/rare] -synonym: "rare urinary tract cancer" EXACT [Orphanet:98058] -synonym: "rare urinary tract neoplasm" EXACT [Orphanet:98058] +synonym: "rare urinary tract cancer" EXACT [] +synonym: "rare urinary tract neoplasm" EXACT [] xref: Orphanet:98058 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452706,8 +452797,8 @@ name: obsolete rare digestive tumor def: "OBSOLETE. Any of the forms of digestive system neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98059"} -synonym: "rare digestive cancer" EXACT [Orphanet:98059] -synonym: "rare digestive neoplasm" EXACT [Orphanet:98059] +synonym: "rare digestive cancer" EXACT [] +synonym: "rare digestive neoplasm" EXACT [] synonym: "rare digestive system neoplasm" EXACT [MONDO:patterns/rare] xref: Orphanet:98059 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -452720,10 +452811,10 @@ name: obsolete rare respiratory tract neoplasm def: "OBSOLETE. Any of the forms of respiratory tract neoplasm that have a rare incidence." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98060"} -synonym: "rare respiratory cancer" NARROW [Orphanet:98060] -synonym: "rare respiratory neoplasm" EXACT [Orphanet:98060] +synonym: "rare respiratory cancer" NARROW [] +synonym: "rare respiratory neoplasm" EXACT [] synonym: "rare respiratory tract neoplasm" EXACT [MONDO:patterns/rare] -synonym: "rare respiratory tumor" EXACT [Orphanet:98060] +synonym: "rare respiratory tumor" EXACT [] xref: Orphanet:98060 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452734,9 +452825,9 @@ id: MONDO:0020035 name: obsolete rare otorhinolaryngologic tumor subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98061"} -synonym: "rare ORL cancer" EXACT [Orphanet:98061] -synonym: "rare ORL neoplasm" EXACT [Orphanet:98061] -synonym: "rare ORL tumor" EXACT [Orphanet:98061] +synonym: "rare ORL cancer" EXACT [] +synonym: "rare ORL neoplasm" EXACT [] +synonym: "rare ORL tumor" EXACT [] xref: Orphanet:98061 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -452751,7 +452842,7 @@ subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98062"} synonym: "nervous system rare tumor" EXACT [MONDO:patterns/location] synonym: "rare nervous system cancer" EXACT [] -synonym: "rare nervous system neoplasm" EXACT [Orphanet:98062] +synonym: "rare nervous system neoplasm" EXACT [] xref: Orphanet:98062 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452764,8 +452855,8 @@ def: "OBSOLETE. Rare female reproductive system neoplasm." [MONDO:patterns/rare] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98063"} synonym: "rare female reproductive system neoplasm" EXACT [MONDO:patterns/rare] -synonym: "rare gynecological cancer" EXACT [Orphanet:98063] -synonym: "rare gynecological neoplasm" EXACT [Orphanet:98063] +synonym: "rare gynecological cancer" EXACT [] +synonym: "rare gynecological neoplasm" EXACT [] xref: Orphanet:98063 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -452785,7 +452876,7 @@ consider: MONDO:0002145 id: MONDO:0020039 name: obsolete 46,XX disorder of sex development induced by androgens excess subset: ordo_group_of_disorders {source="Orphanet:98078"} -synonym: "46,XX DSD induced by androgens excess" EXACT [Orphanet:98078] +synonym: "46,XX DSD induced by androgens excess" EXACT [] xref: Orphanet:98078 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -452808,7 +452899,7 @@ synonym: "46, XY DSD" RELATED [GARD:0008538] synonym: "46, XY female" RELATED [GARD:0008538] synonym: "46,XY differences of Sex development" EXACT [NCIT:C127171] synonym: "46,XY disorders of Sex development" EXACT [NCIT:C127171] -synonym: "46,XY DSD" EXACT [Orphanet:98085] +synonym: "46,XY DSD" EXACT [NCIT:C127171, Orphanet:98085] synonym: "XY female" RELATED [GARD:0008538] xref: GARD:8538 {source="MONDO:GARD"} xref: MEDGEN:414114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -452837,7 +452928,7 @@ id: MONDO:0020042 name: obsolete syndrome with 46,XY disorder of sex development comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic disease' subset: ordo_group_of_disorders {source="Orphanet:98087"} -synonym: "syndrome with 46,XY DSD" EXACT [Orphanet:98087] +synonym: "syndrome with 46,XY DSD" EXACT [] xref: NANDO:2200393 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:98087 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -452958,9 +453049,9 @@ name: obsolete autosomal trisomy comment: Reason: grouping class. Term to consider: MONDO:0700065 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98130"} -synonym: "autosomal duplication" EXACT [Orphanet:98130] +synonym: "autosomal duplication" EXACT [] synonym: "chromosomal triplication" RELATED [GARD:0006065] -synonym: "trisomy" BROAD [NCIT:C3421] +synonym: "trisomy" BROAD [] xref: ICD9:758.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C3421 xref: Orphanet:98130 {source="MONDO:obsoleteEquivalent"} @@ -453014,7 +453105,7 @@ name: obsolete partial autosomal monosomy comment: Reason: grouping class. Term to consider: MONDO:0000761 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98142"} -synonym: "partial autosomal deletion" EXACT [Orphanet:98142] +synonym: "partial autosomal deletion" EXACT [] xref: ICD10CM:Q93.3 {source="Orphanet:98142/specific", source="MONDO:relatedTo", source="Orphanet:98142/btnt", source="Orphanet:98142"} xref: ICD10CM:Q93.4 {source="Orphanet:98142/specific", source="Orphanet:98142/btnt", source="Orphanet:98142"} xref: ICD10CM:Q93.5 {source="Orphanet:98142/specific", source="Orphanet:98142/btnt", source="Orphanet:98142"} @@ -453085,7 +453176,7 @@ name: obsolete gonosome number anomaly comment: Reason: grouping class. Term to consider: MONDO:0700064 subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98156"} -synonym: "Sex-chromosome number anomaly" EXACT [Orphanet:98156] +synonym: "Sex-chromosome number anomaly" EXACT [] xref: Orphanet:98156 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -453098,7 +453189,7 @@ name: obsolete gonosome structural anomaly comment: Reason: grouping class. Term to consider: none subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98157"} -synonym: "Sex-chromosome structural anomaly" EXACT [Orphanet:98157] +synonym: "Sex-chromosome structural anomaly" EXACT [] xref: Orphanet:98157 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4272" xsd:anyURI @@ -453134,7 +453225,7 @@ id: MONDO:0020063 name: obsolete malformation syndrome with hamartosis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: developmental defect during embryogenesis' subset: ordo_group_of_disorders {source="Orphanet:98196"} -synonym: "Dysmorphologic diseases with phakomatosis" EXACT [Orphanet:98196] +synonym: "Dysmorphologic diseases with phakomatosis" EXACT [] xref: Orphanet:98196 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -453198,13 +453289,13 @@ synonym: "Disease, Ehlers Danlos" EXACT [MESH:D004535] synonym: "Disease, Ehlers-Danlos" EXACT [MESH:D004535, UMLS:C0013720] synonym: "Dystrophia mesodermalis congenita" EXACT [SCTID:398114001] synonym: "ED syndrome" RELATED [GARD:0006322, MedGen:41720] -synonym: "EDS" EXACT ABBREVIATION [GARD:0006322, icd11.foundation:1122707206, MedGen:41720, PMID:28306229, UMLS:C0013720] +synonym: "EDS" EXACT ABBREVIATION [GARD:0006322, MedGen:41720, Orphanet:98249, PMID:28306229, UMLS:C0013720] synonym: "Ehler Danlos Syndrome" EXACT [UMLS:C0013720] synonym: "Ehlers Danlos Disease" EXACT [MESH:D004535, UMLS:C0013720] synonym: "Ehlers Danlos Syndrome" EXACT [NORD:1080] synonym: "Ehlers Danlos syndrome" EXACT [GARD:0006322, MESH:D004535, UMLS:C0013720] synonym: "Ehlers-Danlos Disease" EXACT [MESH:D004535, UMLS:C0013720] -synonym: "Ehlers-Danlos syndromes" EXACT [GARD:0006322, NCIT:C34568, SCTID:398114001, UMLS:C0013720] +synonym: "Ehlers-Danlos syndromes" EXACT [GARD:0006322, ICD10CM:Q79.6, SCTID:398114001, UMLS:C0013720] synonym: "elastic skin" EXACT [DOID:13359, UMLS:C0013720] synonym: "Fibrodysplasia elastica generalisata" EXACT [SCTID:398114001] synonym: "Hereditary collagen dysplasia" EXACT [SCTID:398114001] @@ -453247,7 +453338,7 @@ subset: disease_grouping subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "encephalitis infection" EXACT [NCIT:C79550] +synonym: "encephalitis infection" EXACT [] xref: ICD9:049.8 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: ICD9:323.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:108917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -453323,7 +453414,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98258"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "epilepsy syndrome of infancy" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] -synonym: "infantile epilepsy syndrome" EXACT CLINGEN_LABEL [] +synonym: "infantile epilepsy syndrome" EXACT CLINGEN_LABEL [Orphanet:98258] synonym: "infantile onset epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/infantile] xref: GARD:19436 {source="MONDO:GARD"} xref: ICD10CM:G40.4 {source="Orphanet:98258/attributed", source="Orphanet:98258/ntbt", source="Orphanet:98258"} @@ -453348,7 +453439,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98259"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "childhood epilepsy syndrome" EXACT [MONDO:design_pattern] -synonym: "childhood-onset epilepsy syndrome" EXACT CLINGEN_LABEL [] +synonym: "childhood-onset epilepsy syndrome" EXACT CLINGEN_LABEL [Orphanet:98259] synonym: "epilepsy syndrome of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric epilepsy syndrome" EXACT OMO:0003005 [] synonym: "pediatric epilepsy syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] @@ -453393,8 +453484,8 @@ subset: rare synonym: "epilepsy, progressive myoclonic" EXACT [OMIMPS:254800] synonym: "familial progressive myoclonic epilepsy" RELATED [GARD:0007140] synonym: "PME" EXACT ABBREVIATION [DOID:891, Orphanet:98261] -synonym: "progressive myoclonic epilepsy" EXACT [DOID:891] -synonym: "progressive myoclonic epilepsy (disorder) [ambiguous]" EXACT [DOID:891] +synonym: "progressive myoclonic epilepsy" EXACT [DOID:891, icd11.foundation:173613583, Orphanet:98261] +synonym: "progressive myoclonic epilepsy (disorder) [ambiguous]" EXACT [] synonym: "progressive myoclonus epilepsy" EXACT CLINGEN_LABEL [DOID:891, MONDO:0004676, NCIT:C7636, Orphanet:98261] xref: DOID:891 {source="MONDO:equivalentTo"} xref: GARD:7140 {source="MONDO:GARD"} @@ -453425,9 +453516,9 @@ subset: disease_grouping subset: ordo_disorder {source="Orphanet:98267"} subset: otar {source="MONDO:OTAR"} synonym: "genetic isolated obesity" EXACT [] -synonym: "genetic non-syndromic obesity" EXACT [Orphanet:98267] +synonym: "genetic non-syndromic obesity" EXACT [] synonym: "monogenic isolated obesity" EXACT [] -synonym: "monogenic obesity due to a leptin-melanocortin pathway anomaly" NARROW [Orphanet:98267] +synonym: "monogenic obesity due to a leptin-melanocortin pathway anomaly" NARROW [] xref: Orphanet:98267 {source="MONDO:obsoleteEquivalent"} relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingClass"} @@ -453449,11 +453540,11 @@ synonym: "chronic myeloproliferative disorder" EXACT [MONDO:0005171, NCIT:C4345] synonym: "chronic myeloproliferative disorders" RELATED [GARD:0009319] synonym: "chronic myeloproliferative neoplasm" EXACT [NCIT:C4345] synonym: "CMPD" EXACT ABBREVIATION [DOID:2226, NCIT:C4345] -synonym: "CMPD, U" RELATED [DOID:2226, NCIT:C27350] +synonym: "CMPD, U" RELATED [] synonym: "MPD" EXACT ABBREVIATION [NCIT:C4345, Orphanet:98274] synonym: "MPN" EXACT ABBREVIATION [NCIT:C4345, ONCOTREE:MPN, Orphanet:98274] synonym: "myeloproliferative disorder" EXACT [NCIT:C4345, Orphanet:98274] -synonym: "myeloproliferative neoplasm" EXACT [NCIT:C4345] +synonym: "myeloproliferative neoplasm" EXACT [DOID:2226, NCIT:C4345, Orphanet:98274] synonym: "myeloproliferative neoplasm, chronic" EXACT [MONDO:patterns/chronic] synonym: "myeloproliferative neoplasms" RELATED [ONCOTREE:MPN] synonym: "myeloproliferative tumor" EXACT [NCIT:C4345] @@ -453507,10 +453598,10 @@ name: obsolete acute myeloid leukemia with recurrent genetic anomaly def: "OBSOLETE. A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001)" [NCIT:C7175] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: acute myeloid leukemia' subset: ordo_group_of_disorders {source="Orphanet:98277"} -synonym: "acute myeloid Leukemia with balanced Translocations/Inversions" EXACT [NCIT:C7175] -synonym: "acute myeloid Leukemia with recurrent Genetic abnormalities" EXACT [NCIT:C7175] -synonym: "AML with recurrent Genetic abnormalities" EXACT [NCIT:C7175] -synonym: "AML with recurrent genetic anomaly" EXACT [Orphanet:98277] +synonym: "acute myeloid Leukemia with balanced Translocations/Inversions" EXACT [] +synonym: "acute myeloid Leukemia with recurrent Genetic abnormalities" EXACT [] +synonym: "AML with recurrent Genetic abnormalities" EXACT [] +synonym: "AML with recurrent genetic anomaly" EXACT [] xref: icd11.foundation:1430965006 {source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:98277"} xref: NCIT:C7175 {source="MONDO:obsoleteEquivalent"} xref: ONCOTREE:AMLRGA {source="MONDO:obsoleteEquivalent"} @@ -453556,10 +453647,10 @@ subset: ordo_group_of_disorders {source="Orphanet:98289"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "dendritic cell neoplasm" RELATED [GARD:0008317] -synonym: "dendritic cell sarcoma, NOS" NARROW [NCIT:C27260] -synonym: "dendritic cell sarcoma, Not otherwise specified" NARROW [NCIT:C27260] -synonym: "dendritic cell tumor, NOS" NARROW [NCIT:C27260] -synonym: "dendritic cell tumor, not otherwise specified" NARROW [NCIT:C27260] +synonym: "dendritic cell sarcoma, NOS" NARROW [] +synonym: "dendritic cell sarcoma, Not otherwise specified" NARROW [] +synonym: "dendritic cell tumor, NOS" NARROW [] +synonym: "dendritic cell tumor, not otherwise specified" NARROW [] xref: GARD:8317 {source="MONDO:GARD"} xref: ICD10CM:C96.4 {source="Orphanet:98289", source="Orphanet:98289/e"} xref: MEDGEN:1842732 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -453620,7 +453711,7 @@ subset: gard_rare {source="GARD:12597", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:98305"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "genetic lipodystrophy" EXACT [Orphanet:98305] +synonym: "genetic lipodystrophy" EXACT [icd11.foundation:1166232738, Orphanet:98305] synonym: "genetic lipodystrophy (disease)" EXACT [MONDO:patterns/genetic] xref: GARD:12597 {source="MONDO:GARD"} xref: ICD10CM:E88.1 {source="Orphanet:98305/attributed", source="Orphanet:98305/ntbt", source="Orphanet:98305"} @@ -453644,7 +453735,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98306"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital partial lipodystrophy" EXACT [NCIT:C84708] -synonym: "Dunnigan syndrome" RELATED EXCLUDE [DOID:0050440] +synonym: "Dunnigan syndrome" RELATED EXCLUDE [] synonym: "FPLD" EXACT ABBREVIATION [Orphanet:98306] synonym: "genetic partial lipodystrophy" EXACT [MONDO:patterns/genetic] synonym: "Koberling-Dunnigan syndrome" EXACT [DOID:0050440] @@ -453693,7 +453784,7 @@ id: MONDO:0020090 name: obsolete male infertility due to gonadal dysgenesis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:98313"} -synonym: "Male infertility due to testicular dysgenesis" EXACT [Orphanet:98313] +synonym: "Male infertility due to testicular dysgenesis" EXACT [] xref: Orphanet:98313 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -453705,7 +453796,7 @@ id: MONDO:0020091 name: obsolete male infertility due to obstructive azoospermia comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: male infertility' subset: ordo_group_of_disorders {source="Orphanet:98343"} -synonym: "Male infertility due to impaired sperm transport" EXACT [Orphanet:98343] +synonym: "Male infertility due to impaired sperm transport" EXACT [] xref: ICD10CM:N46 {source="Orphanet:98343/ntbt", source="Orphanet:98343"} xref: Orphanet:98343 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -453729,7 +453820,7 @@ id: MONDO:0020093 name: obsolete autosomal dominant isolated diffuse palmoplantar keratoderma def: "OBSOLETE. Autosomal dominant form of isolated diffuse palmoplantar keratoderma." [MONDO:patterns/autosomal_dominant] subset: ordo_group_of_disorders {source="Orphanet:98349"} -synonym: "autosomal dominant isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98349] +synonym: "autosomal dominant isolated diffuse palmoplantar hyperkeratosis" EXACT [] synonym: "isolated diffuse palmoplantar keratoderma, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: ICD10CM:Q82.8 {source="Orphanet:98349/attributed", source="Orphanet:98349/ntbt", source="Orphanet:98349"} xref: Orphanet:98349 {source="MONDO:obsoleteEquivalent"} @@ -453746,7 +453837,7 @@ name: obsolete autosomal dominant disease with diffuse palmoplantar keratoderma def: "OBSOLETE. Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_dominant] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98352"} -synonym: "autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98352] +synonym: "autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature" EXACT [] synonym: "disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: ICD10CM:Q82.8 {source="Orphanet:98352/attributed", source="Orphanet:98352/ntbt", source="Orphanet:98352"} xref: Orphanet:98352 {source="MONDO:obsoleteEquivalent"} @@ -453761,7 +453852,7 @@ name: obsolete autosomal dominant disease associated with focal palmoplantar ker def: "OBSOLETE. Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_dominant] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98353"} -synonym: "autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98353] +synonym: "autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature" EXACT [] synonym: "autosomal dominant disease with focal palmoplantar keratoderma as a major feature" EXACT [MONDO:design_pattern] synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: ICD10CM:Q82.8 {source="Orphanet:98353/attributed", source="Orphanet:98353/ntbt", source="Orphanet:98353"} @@ -453776,7 +453867,7 @@ id: MONDO:0020096 name: obsolete autosomal recessive isolated diffuse palmoplantar keratoderma def: "OBSOLETE. Autosomal recessive form of isolated diffuse palmoplantar keratoderma." [MONDO:patterns/autosomal_recessive] subset: ordo_group_of_disorders {source="Orphanet:98356"} -synonym: "autosomal recessive isolated diffuse palmoplantar hyperkeratosis" EXACT [Orphanet:98356] +synonym: "autosomal recessive isolated diffuse palmoplantar hyperkeratosis" EXACT [] synonym: "isolated diffuse palmoplantar keratoderma, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: ICD10CM:Q82.8 {source="Orphanet:98356", source="Orphanet:98356/attributed", source="Orphanet:98356/ntbt"} xref: Orphanet:98356 {source="MONDO:obsoleteEquivalent"} @@ -453793,7 +453884,7 @@ name: obsolete autosomal recessive disease with focal palmoplantar keratoderma a def: "OBSOLETE. Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_recessive] subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98357"} -synonym: "autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98357] +synonym: "autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature" EXACT [] synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: ICD10CM:Q82.8 {source="Orphanet:98357/attributed", source="Orphanet:98357/ntbt", source="Orphanet:98357"} xref: Orphanet:98357 {source="MONDO:obsoleteEquivalent"} @@ -453857,9 +453948,9 @@ name: obsolete constitutional hemolytic anemia due to membrane defect def: "OBSOLETE. A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis." [NCIT:C101218] comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:98364"} -synonym: "anemia due to membrane defect" EXACT [NCIT:C101218] -synonym: "hemolytic anemia due to erythrocyte membrane defect" EXACT [NCIT:C101218] -synonym: "hemolytic anemia due to membrane defect" EXACT [NCIT:C101218] +synonym: "anemia due to membrane defect" EXACT [] +synonym: "hemolytic anemia due to erythrocyte membrane defect" EXACT [] +synonym: "hemolytic anemia due to membrane defect" EXACT [] synonym: "rare constitutional hemolytic anemia due to a red cell membrane anomaly" EXACT [] xref: NCIT:C101218 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:98364 {source="MONDO:obsoleteEquivalent"} @@ -453895,7 +453986,7 @@ id: MONDO:0020103 name: obsolete constitutional hemolytic anemia due to acanthocytosis comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:98366"} -synonym: "constitutional hemolytic anemia due to acanthocytic disorder" EXACT [Orphanet:98366] +synonym: "constitutional hemolytic anemia due to acanthocytic disorder" EXACT [] xref: ICD10CM:E78.6 {source="Orphanet:98366", source="Orphanet:98366/index", source="Orphanet:98366/ntbt"} xref: Orphanet:98366 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -453950,7 +454041,7 @@ id: MONDO:0020107 name: obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: hemolytic anemia' subset: ordo_group_of_disorders {source="Orphanet:98374"} -synonym: "hemolytic anemia due to an erythroenzymopathy" EXACT [Orphanet:98374] +synonym: "hemolytic anemia due to an erythroenzymopathy" EXACT [] xref: ICD10CM:D55.3 {source="Orphanet:98374/e", source="Orphanet:98374/specific", source="Orphanet:98374"} xref: Orphanet:98374 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -453974,11 +454065,11 @@ synonym: "AHA" EXACT ABBREVIATION [Orphanet:98375] synonym: "AIHA" EXACT ABBREVIATION [Orphanet:98375] synonym: "anaemia hemolytic autoimmune" RELATED OMO:0003005 [] synonym: "anemia hemolytic autoimmune" RELATED [GARD:0005870] -synonym: "anemia, autoimmune hemolytic" RELATED [OMIM:205700] +synonym: "anemia, autoimmune hemolytic" RELATED [] synonym: "Anemia, Hemolytic, Acquired Autoimmune" EXACT [NORD:774] -synonym: "autoimmune haemolytic anaemia" EXACT OMO:0003005 [] -synonym: "autoimmune haemolytic anemia" EXACT [DOID:718] -synonym: "autoimmune hemolytic anemia" EXACT [MONDO:0008784] +synonym: "autoimmune haemolytic anaemia" EXACT OMO:0003005 [DOID:718] +synonym: "autoimmune haemolytic anemia" EXACT [] +synonym: "autoimmune hemolytic anemia" EXACT [DOID:718, MONDO:0008784, NCIT:C34378, Orphanet:98375] synonym: "familial auto-immune hemolytic anaemia (subtype)" RELATED OMO:0003005 [] synonym: "familial auto-immune hemolytic anemia (subtype)" RELATED [GARD:0005870] synonym: "idiopathic autoimmune hemolytic anaemia" RELATED OMO:0003005 [] @@ -454042,7 +454133,7 @@ subset: ordo_disorder {source="Orphanet:984"} subset: ordo_morphological_anomaly {source="Orphanet:984"} subset: orphanet_rare {source="Orphanet:984"} subset: rare -synonym: "congenital absence of lung" EXACT [NCIT:C99028] +synonym: "congenital absence of lung" EXACT [icd11.foundation:134836096, NCIT:C99028] synonym: "congenital lung agenesis" RELATED [GARD:0009119] synonym: "unilateral lobar pulmonary agenesis" RELATED [GARD:0009119] synonym: "unilateral lung agenesis" RELATED [GARD:0009119] @@ -454129,7 +454220,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98428"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "secondary erythrocytosis" EXACT [Orphanet:98428] -synonym: "secondary polycythemia" EXACT [NCIT:C27178] +synonym: "secondary polycythemia" EXACT [NCIT:C27178, Orphanet:98428] xref: GARD:19467 {source="MONDO:GARD"} xref: ICD10CM:D75.1 {source="Orphanet:98428", source="Orphanet:98428/specific", source="Orphanet:98428/e"} xref: MedDRA:10036062 {source="Orphanet:98428", source="Orphanet:98428/e"} @@ -454147,7 +454238,7 @@ def: "OBSOLETE. Any of the forms of blood coagulation disease that have a rare i subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98429"} synonym: "rare blood coagulation disease" EXACT [MONDO:patterns/rare] -synonym: "rare coagulation disorder" RELATED [Orphanet:98429] +synonym: "rare coagulation disorder" RELATED [] xref: Orphanet:98429 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -454177,7 +454268,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020118 name: obsolete dense granule disease subset: ordo_group_of_disorders {source="Orphanet:98456"} -synonym: "Delta granule disease" EXACT [Orphanet:98456] +synonym: "Delta granule disease" EXACT [] xref: ICD10CM:D69.1 {source="Orphanet:98456/attributed", source="Orphanet:98456/ntbt", source="Orphanet:98456"} xref: icd11.foundation:1930060978 {source="Orphanet:98456", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0002-3458-4839"} xref: Orphanet:98456 {source="MONDO:obsoleteEquivalent"} @@ -454194,8 +454285,8 @@ def: "A syndromic intellectual disability with an X-linked mode of inheritance." subset: clingen {source="MONDO:CLINGEN"} subset: disease_grouping subset: otar {source="MONDO:OTAR"} -synonym: "intellectual disability, X-linked syndromic" EXACT [OMIMPS:309510] -synonym: "mental retardation, X-linked syndromic" EXACT DEPRECATED [OMIMPS:309510] +synonym: "intellectual disability, X-linked syndromic" EXACT [] +synonym: "mental retardation, X-linked syndromic" EXACT DEPRECATED [] synonym: "syndromic intellectual disability, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "syndromic X-linked intellectual disability" EXACT [DOID:0060309, MONDO:0000738] synonym: "syndromic X-linked mental retardation" EXACT DEPRECATED [DOID:0060309] @@ -454282,10 +454373,10 @@ subset: gard_rare {source="GARD:9128", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:98482"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "idiopathic inflammatory myopathies" EXACT [NCIT:C116796] +synonym: "idiopathic inflammatory myopathies" EXACT [] synonym: "idiopathic inflammatory myopathy, familial" RELATED [GARD:0009128] synonym: "idiopathic inflammatory myositis" EXACT [Orphanet:98482] -synonym: "IIm" EXACT [NCIT:C116796] +synonym: "IIm" EXACT [] synonym: "IMM" EXACT ABBREVIATION [Orphanet:98482] xref: GARD:9128 {source="MONDO:GARD"} xref: icd11.foundation:464294586 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:98482"} @@ -454376,7 +454467,7 @@ subset: gard_rare {source="GARD:10711", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:98497"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "genetic peripheral neuropathy" EXACT [MONDO:patterns/genetic] +synonym: "genetic peripheral neuropathy" EXACT [MONDO:patterns/genetic, Orphanet:98497] xref: GARD:10711 {source="MONDO:GARD"} xref: MEDGEN:1825937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:98497 {source="MONDO:equivalentTo"} @@ -454396,11 +454487,11 @@ subset: gard_rare {source="GARD:19477", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:98503"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "anterior horn cell disease" EXACT [Orphanet:98503] +synonym: "anterior horn cell disease" EXACT [icd11.foundation:661720689, Orphanet:98503] synonym: "disease of motor neuron" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of motor neuron" EXACT [] synonym: "disorder of motor neuron" EXACT [MONDO:patterns/location_top] -synonym: "motor neuron disease" EXACT [MONDO:0005270, MONDO:patterns/location] +synonym: "motor neuron disease" EXACT [DOID:231, ICD10CM:G12.2, icd11.foundation:661720689, MONDO:0005270, MONDO:patterns/location, Orphanet:98503] synonym: "motor neuron disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: DOID:231 {source="EFO:0003782", source="MONDO:equivalentTo"} xref: EFO:0003782 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -454435,7 +454526,7 @@ subset: gard_rare {source="GARD:19479", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:98506"} subset: rare synonym: "acquired anterior horn cell disease" EXACT [Orphanet:98506] -synonym: "acquired motor neuron disease" EXACT [MONDO:patterns/acquired] +synonym: "acquired motor neuron disease" EXACT [MONDO:patterns/acquired, Orphanet:98506] xref: GARD:19479 {source="MONDO:GARD"} xref: MEDGEN:1842733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:98506 {source="MONDO:equivalentTo"} @@ -454519,11 +454610,11 @@ subset: ordo_group_of_disorders {source="Orphanet:98523"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "isolated pontocerebellar hypoplasia" NARROW [https://orcid.org/0000-0002-6601-2165] -synonym: "nonsyndromic pontocerebellar hypoplasia" NARROW [https://orcid.org/0000-0002-6601-2165, Orphanet:98523] +synonym: "nonsyndromic pontocerebellar hypoplasia" NARROW [https://orcid.org/0000-0002-6601-2165] synonym: "PCH" EXACT ABBREVIATION [DOID:0060264, Orphanet:98523] -synonym: "pontocerebellar hypoplasia" EXACT CLINGEN_LABEL [MONDO:0000730] +synonym: "pontocerebellar hypoplasia" EXACT CLINGEN_LABEL [DOID:0060264, icd11.foundation:1565266279, MONDO:0000730, OMIMPS:607596] synonym: "pontoneocerebellar atrophy" EXACT [Orphanet:98523] -synonym: "pontoneocerebllar hypoplasia" EXACT [Orphanet:98523] +synonym: "pontoneocerebllar hypoplasia" EXACT [] xref: DOID:0060264 {source="MONDO:equivalentTo"} xref: GARD:10977 {source="MONDO:GARD"} xref: ICD10CM:Q04.3 {source="Orphanet:98523", source="Orphanet:98523/attributed", source="Orphanet:98523/ntbt"} @@ -454622,7 +454713,7 @@ subset: gard_rare {source="GARD:19491", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:98544"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cerebral lipidosis" EXACT [MONDO:0001107] +synonym: "cerebral lipidosis" EXACT [DOID:10742, MONDO:0001107] xref: DOID:10742 {source="MONDO:equivalentTo"} xref: GARD:19491 {source="MONDO:GARD"} xref: ICD9:330.1 {source="DOID:10742", source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -454641,7 +454732,7 @@ id: MONDO:0020144 name: obsolete cerebrovascular dementia subset: ordo_group_of_disorders {source="Orphanet:98549"} subset: otar {source="MONDO:OTAR"} -synonym: "rare cerebrovascular dementia" RELATED [Orphanet:98549] +synonym: "rare cerebrovascular dementia" RELATED [] xref: Orphanet:98549 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -454739,7 +454830,7 @@ id: MONDO:0020152 name: obsolete rare eyelid malformation subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:98561"} -synonym: "eyelid malformation" RELATED [Orphanet:98561] +synonym: "eyelid malformation" RELATED [] xref: Orphanet:98561 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -454755,7 +454846,7 @@ subset: gard_rare {source="GARD:10505", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:98562"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cryptophthalmos" EXACT [NCIT:C124520] +synonym: "cryptophthalmos" EXACT [DOID:0111716, NCIT:C124520] xref: DOID:0111716 {source="MONDO:equivalentTo"} xref: GARD:10505 {source="MONDO:GARD"} xref: icd11.foundation:740223582 {source="MONDO:equivalentTo", source="Orphanet:98562"} @@ -455160,8 +455251,8 @@ is_obsolete: true id: MONDO:0020187 name: obsolete eyelashes hypertrophy subset: disease_grouping -synonym: "eyelashes polytrichia" EXACT [Orphanet:98597] -synonym: "eyelashes trichomegalia" EXACT [Orphanet:98597] +synonym: "eyelashes polytrichia" EXACT [] +synonym: "eyelashes trichomegalia" EXACT [] xref: Orphanet:98597 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1501" xsd:anyURI is_obsolete: true @@ -455263,7 +455354,7 @@ is_obsolete: true id: MONDO:0020197 name: obsolete EEC syndrome and related syndrome subset: ordo_group_of_disorders {source="Orphanet:98609"} -synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders" EXACT [Orphanet:98609] +synonym: "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders" EXACT [] xref: Orphanet:98609 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455475,7 +455566,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "corneal dystrophy (disease) of substantia propria of cornea" EXACT [] synonym: "corneal stromal dystrophy" EXACT [MONDO:0000765] -synonym: "stromal dystrophy" RELATED [DOID:0060442] +synonym: "stromal dystrophy" RELATED [] synonym: "substantia propria of cornea corneal dystrophy (disease)" EXACT [MONDO:patterns/location] xref: DOID:0060442 {source="MONDO:equivalentTo"} xref: GARD:19519 {source="MONDO:GARD"} @@ -455543,7 +455634,7 @@ is_obsolete: true id: MONDO:0020217 name: obsolete secondary dysgenetic glaucoma associated with neural crest cell migration anomaly comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: secondary dysgenetic glaucoma' -synonym: "glaucoma associated with neural crest cell migration anomaly" RELATED [Orphanet:98632] +synonym: "glaucoma associated with neural crest cell migration anomaly" RELATED [] xref: Orphanet:98632 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -455662,7 +455753,7 @@ id: MONDO:0020228 name: obsolete cataract associated with a metabolic disease comment: Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: syndromic cataract' subset: ordo_group_of_disorders {source="Orphanet:98644"} -synonym: "metabolic disease with cataract" EXACT [Orphanet:98644] +synonym: "metabolic disease with cataract" EXACT [] xref: Orphanet:98644 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3886" xsd:anyURI @@ -455745,7 +455836,7 @@ id: MONDO:0020236 name: obsolete lens position anomaly def: "OBSOLETE. Partial or complete displacement of the crystalline lens from its normal position in the eye." [NCIT:C125484] subset: ordo_group_of_disorders {source="Orphanet:98653"} -synonym: "ectopia lentis" EXACT [NCIT:C125484] +synonym: "ectopia lentis" EXACT [] xref: HP:0001083 xref: ICD10CM:Q12.1 {source="Orphanet:98653", source="Orphanet:98653/attributed", source="Orphanet:98653/ntbt"} xref: NCIT:C125484 {source="MONDO:obsoleteEquivalent"} @@ -455769,7 +455860,7 @@ is_obsolete: true id: MONDO:0020238 name: obsolete inherited vitreous-retinal disease synonym: "genetic vitreoretinal disease" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "genetic vitreous-retinal disease" EXACT [Orphanet:98657] +synonym: "genetic vitreous-retinal disease" EXACT [] xref: Orphanet:98657 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -455820,7 +455911,7 @@ subset: disease_grouping subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "genetic macular dystrophy" EXACT [] +synonym: "genetic macular dystrophy" EXACT [NCIT:C140264] synonym: "genetic macular dystrophy (disease)" EXACT [MONDO:patterns/genetic] xref: ICD10CM:H35.5 {source="Orphanet:98664", source="Orphanet:98664/attributed", source="Orphanet:98664/ntbt", source="MONDO:directSiblingOf"} xref: MEDGEN:137919 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -456012,9 +456103,9 @@ replaced_by: MONDO:0001309 id: MONDO:0020256 name: obsolete congenital trochlear nerve palsy subset: ordo_disorder {source="Orphanet:98686"} -synonym: "congenital CNIV palsy" EXACT [Orphanet:98686] -synonym: "congenital fourth cranial nerve palsy" EXACT [Orphanet:98686] -synonym: "congenital superior oblique palsy" EXACT [Orphanet:98686] +synonym: "congenital CNIV palsy" EXACT [] +synonym: "congenital fourth cranial nerve palsy" EXACT [] +synonym: "congenital superior oblique palsy" EXACT [] xref: ICD10CM:H49.1 {source="Orphanet:98686", source="Orphanet:98686/attributed", source="Orphanet:98686/ntbt"} xref: Orphanet:98686 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0015083 {source="Orphanet:98686", source="https://orcid.org/0000-0001-5208-3432"} ! nuclear oculomotor paralysis @@ -456077,7 +456168,7 @@ is_obsolete: true id: MONDO:0020261 name: obsolete neurological disease with abnormal eye movements comment: Obsolete in Orphanet -synonym: "abnormal eye movements" EXACT [Orphanet:98691] +synonym: "abnormal eye movements" EXACT [] xref: Orphanet:98691 {source="MONDO:obsoleteEquivalentObsolete"} is_obsolete: true @@ -456288,7 +456379,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "inflammation of uvea" EXACT [] synonym: "uvea inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "uveitis" EXACT [MONDO:ambiguous] +synonym: "uveitis" EXACT [DOID:13141, MONDO:ambiguous, NCIT:C26909, Orphanet:98715] synonym: "uveitis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:13141 {source="EFO:1001231", source="MONDO:equivalentTo"} xref: EFO:1001231 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -456407,16 +456498,16 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:821"} subset: ordo_group_of_disorders {source="Orphanet:98722"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "atrioventricular canal defect" NARROW [DOID:0050651] -synonym: "Atrioventricular Septal Defect" EXACT [NORD:821] -synonym: "atrioventricular septal defect" NARROW [Orphanet:98722] -synonym: "AV septal defect" NARROW [NCIT:C101029] -synonym: "AVCD" NARROW ABBREVIATION [DOID:0050651] -synonym: "AVSD" NARROW ABBREVIATION [DOID:0050651, Orphanet:98722] -synonym: "common atrioventricular canal" NARROW [NCIT:C101029] -synonym: "common AV canal" NARROW [NCIT:C101029] -synonym: "ECD" NARROW ABBREVIATION [DOID:0050651] -synonym: "endocardial cushion defect" NARROW [DOID:0050651] +synonym: "atrioventricular canal defect" NARROW [] +synonym: "Atrioventricular Septal Defect" EXACT [DOID:0050651, NCIT:C101029, NORD:821, OMIMPS:606215, Orphanet:98722] +synonym: "atrioventricular septal defect" NARROW [] +synonym: "AV septal defect" NARROW [] +synonym: "AVCD" NARROW ABBREVIATION [] +synonym: "AVSD" NARROW ABBREVIATION [] +synonym: "common atrioventricular canal" NARROW [] +synonym: "common AV canal" NARROW [] +synonym: "ECD" NARROW ABBREVIATION [] +synonym: "endocardial cushion defect" NARROW [] xref: DOID:0050651 {source="MONDO:equivalentTo"} xref: GARD:802 {source="MONDO:GARD"} xref: ICD10CM:Q21.2 {source="DOID:0050651", source="Orphanet:98722", source="Orphanet:98722/e"} @@ -456446,7 +456537,7 @@ subset: gard_rare {source="GARD:2922", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:98723"} subset: rare -synonym: "right hypoplastic heart syndrome" EXACT [NCIT:C99053] +synonym: "right hypoplastic heart syndrome" EXACT [DOID:0070315, NCIT:C99053] xref: DOID:0070315 {source="MONDO:equivalentTo"} xref: GARD:2922 {source="MONDO:GARD"} xref: ICD10CM:Q22.6 {source="Orphanet:98723", source="MONDO:equivalentTo", source="Orphanet:98723/e"} @@ -456470,7 +456561,7 @@ subset: gard_rare {source="GARD:19556", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:98724"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital aorta, aortic arch or pulmonary arteries anomaly" EXACT [Orphanet:98724] +synonym: "congenital aorta, aortic arch or pulmonary arteries anomaly" EXACT [] xref: GARD:19556 {source="MONDO:GARD"} xref: MedDRA:10061080 {source="Orphanet:98724", source="Orphanet:98724/e"} xref: MEDGEN:798768 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -456496,8 +456587,8 @@ is_obsolete: true id: MONDO:0020294 name: obsolete atrial defect and interatrial communication subset: ordo_group_of_disorders {source="Orphanet:98727"} -synonym: "atrial defect and interauricular communication" EXACT [Orphanet:98727] -synonym: "rare atrial defect and interatrial communication" RELATED [Orphanet:98727] +synonym: "atrial defect and interauricular communication" EXACT [] +synonym: "rare atrial defect and interatrial communication" RELATED [] xref: ICD10CM:Q21.1 {source="Orphanet:98727", source="Orphanet:98727/ntbt"} xref: Orphanet:98727 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -456514,7 +456605,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:19559", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:98729"} subset: rare -synonym: "congenital anomaly of pulmonary veins" EXACT [] +synonym: "congenital anomaly of pulmonary veins" EXACT [NCIT:C110942] synonym: "pulmonary vein abnormality" RELATED [] xref: GARD:19559 {source="MONDO:GARD"} xref: NCIT:C110942 {source="MONDO:equivalentTo"} @@ -456575,7 +456666,7 @@ subset: ordo_etiological_subtype {source="Orphanet:98754"} subset: ordo_subtype_of_a_disorder {source="Orphanet:98754"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98754] +synonym: "Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2] synonym: "UPD(15)mat" EXACT [Orphanet:98754] xref: GARD:16861 {source="MONDO:GARD"} xref: ICD10CM:Q87.1 {source="Orphanet:98754", source="Orphanet:98754/attributed", source="Orphanet:98754/ntbt"} @@ -456665,7 +456756,7 @@ subset: ordo_etiological_subtype {source="Orphanet:98795"} subset: ordo_subtype_of_a_disorder {source="Orphanet:98795"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Angelman syndrome due to paternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2, Orphanet:98795] +synonym: "Angelman syndrome due to paternal uniparental disomy of chromosome type 15" EXACT [MONDORULE:2] synonym: "UPD(15)pat" EXACT [Orphanet:98795] xref: GARD:19578 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:98795", source="Orphanet:98795/attributed", source="Orphanet:98795/ntbt"} @@ -456787,10 +456878,10 @@ subset: orphanet_rare {source="Orphanet:98820"} subset: otar {source="MONDO:OTAR"} subset: prototype_pattern subset: rare -synonym: "epilepsy, familial focal, with variable foci" EXACT [MONDO:0000215, MONDO:Lexical, OMIM:604364] -synonym: "familial focal epilepsy with variable foci" EXACT CLINGEN_LABEL [] +synonym: "epilepsy, familial focal, with variable foci" EXACT [MONDO:0000215, MONDO:Lexical, OMIMPS:604364] +synonym: "familial focal epilepsy with variable foci" EXACT CLINGEN_LABEL [DOID:0081420, icd11.foundation:855404450, Orphanet:98820] synonym: "familial partial epilepsy with variable foci" EXACT [Orphanet:98820] -synonym: "FFEVF" RELATED ABBREVIATION [MONDO:Lexical, OMIM:604364, Orphanet:98820] +synonym: "FFEVF" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0081420 {source="MONDO:equivalentTo"} xref: GARD:13295 {source="MONDO:GARD"} xref: icd11.foundation:855404450 {source="MONDO:equivalentTo"} @@ -456816,9 +456907,9 @@ subset: orphanet_rare {source="Orphanet:98823"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chronic myelomonocytic leukaemia (CMML)" EXACT OMO:0003005 [] -synonym: "chronic myelomonocytic leukemia" EXACT [NCIT:C3178] +synonym: "chronic myelomonocytic leukemia" EXACT [DOID:0080188, NCIT:C3178, Orphanet:98823] synonym: "chronic myelomonocytic leukemia (CMML)" EXACT [NCIT:C3178] -synonym: "CMML" EXACT ABBREVIATION [NCIT:C3178, OMIM:607785, Orphanet:98823] +synonym: "CMML" EXACT ABBREVIATION [NCIT:C3178, Orphanet:98823] xref: DOID:0080188 {source="MONDO:equivalentTo"} xref: EFO:1001779 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:8225 {source="MONDO:GARD"} @@ -456852,7 +456943,7 @@ replaced_by: MONDO:0004653 id: MONDO:0020313 name: obsolete unclassified myelodysplastic/myeloproliferative disease subset: ordo_disorder {source="Orphanet:98825"} -synonym: "unclassified mixed myelodysplastic/myeloproliferatic syndrome" EXACT [Orphanet:98825] +synonym: "unclassified mixed myelodysplastic/myeloproliferatic syndrome" EXACT [] xref: icd11.foundation:855969668 {source="MONDO:obsoleteEquivalent", source="Orphanet:98825", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:98825 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -456916,13 +457007,13 @@ synonym: "acute myeloid leukaemia with MLL abnormalities" EXACT OMO:0003005 [] synonym: "acute myeloid Leukaemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" EXACT OMO:0003005 [] synonym: "acute myeloid leukaemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" EXACT OMO:0003005 [] synonym: "acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL" EXACT OMO:0003005 [] -synonym: "acute myeloid leukemia with 11q23 (MLL) abnormalities" EXACT [NCIT:C82403] -synonym: "acute myeloid leukemia with MLL abnormalities" EXACT [NCIT:C82403] +synonym: "acute myeloid leukemia with 11q23 (MLL) abnormalities" EXACT [] +synonym: "acute myeloid leukemia with MLL abnormalities" EXACT [] synonym: "acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A" EXACT [NCIT:C82403] -synonym: "acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" EXACT [NCIT:C82403] +synonym: "acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A" EXACT [] synonym: "acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL" EXACT [NCIT:C82403] synonym: "AML with 11q23 abnormalities" EXACT [Orphanet:98831] -synonym: "AML with t(9;11)(p22;q23); MLLT3-MLL" EXACT [NCIT:C82403] +synonym: "AML with t(9;11)(p22;q23); MLLT3-MLL" EXACT [] xref: GARD:19587 {source="MONDO:GARD"} xref: ICD10CM:C92.6 {source="Orphanet:98831", source="Orphanet:98831/e"} xref: ICDO:9897/3 {source="NCIT:C82403"} @@ -456963,7 +457054,7 @@ synonym: "acute myelogenous leukemia with maturation" EXACT [NCIT:C3250] synonym: "acute myeloid leukaemia (AML-M2)" EXACT OMO:0003005 [] synonym: "acute myeloid leukaemia with maturation" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia (AML-M2)" EXACT [NCIT:C3250] -synonym: "acute myeloid leukemia with maturation" EXACT [NCIT:C3250] +synonym: "acute myeloid leukemia with maturation" EXACT [DOID:0081087, NCIT:C3250] synonym: "AM" RELATED ABBREVIATION [ONCOTREE:AM] synonym: "AML M2" EXACT [Orphanet:98834] synonym: "AML with maturation" EXACT [NCIT:C3250] @@ -457012,10 +457103,10 @@ subset: ordo_disorder {source="Orphanet:98835"} subset: orphanet_rare {source="Orphanet:98835"} subset: rare synonym: "acute leukaemia not otherwise specified" RELATED OMO:0003005 [] -synonym: "acute leukemia not otherwise specified" RELATED EXCLUDE [NCIT:C9298] -synonym: "acute leukemia, NOS" RELATED EXCLUDE [NCIT:C9298] +synonym: "acute leukemia not otherwise specified" RELATED EXCLUDE [] +synonym: "acute leukemia, NOS" RELATED EXCLUDE [] synonym: "acute myeloid leukemia, minimal differentiation, FAB M0" EXACT [Orphanet:98835] -synonym: "acute undifferentiated leukemia" EXACT [NCIT:C9298] +synonym: "acute undifferentiated leukemia" EXACT [NCIT:C9298, Orphanet:98835] synonym: "AUL" RELATED ABBREVIATION [ONCOTREE:AUL] synonym: "leukaemia stem cell" EXACT OMO:0003005 [] synonym: "leukemia stem cell" EXACT [NCIT:C9298] @@ -457083,13 +457174,13 @@ synonym: "mediastinal (thymic) large B-cell lymphoma" EXACT [NCIT:C9280] synonym: "mediastinal B-cell diffuse large cell lymphoma" EXACT [NCIT:C9280] synonym: "mediastinal diffuse large cell lymphoma with sclerosis" EXACT [NCIT:C9280] synonym: "mediastinal diffuse large-cell lymphoma with sclerosis" EXACT [DOID:0080210, Orphanet:98838] -synonym: "mediastinal large B-cell lymphoma" EXACT [NCIT:C9280] +synonym: "mediastinal large B-cell lymphoma" EXACT [icd11.foundation:950282079] synonym: "PMBL" EXACT ABBREVIATION [NCIT:C9280, ONCOTREE:PMBL] synonym: "PMLCL" EXACT ABBREVIATION [NCIT:C9280] synonym: "primary mediastinal (thymic) large B-cell lymphoma" RELATED [ONCOTREE:PMBL] -synonym: "primary mediastinal B-cell lymphoma" RELATED [DOID:0080210] -synonym: "primary mediastinal clear cell lymphoma of B-cell type" EXACT [DOID:0080210, Orphanet:98838] -synonym: "primary mediastinal large B-cell lymphoma" EXACT [NCIT:C9280] +synonym: "primary mediastinal B-cell lymphoma" RELATED [] +synonym: "primary mediastinal clear cell lymphoma of B-cell type" EXACT [DOID:0080210, NCIT:C9280, Orphanet:98838] +synonym: "primary mediastinal large B-cell lymphoma" EXACT [icd11.foundation:950282079, NCIT:C9280, Orphanet:98838] xref: DOID:0080210 {source="MONDO:equivalentTo"} xref: GARD:19589 {source="MONDO:GARD"} xref: ICD10CM:C83.3 {source="Orphanet:98838/ntbt", source="Orphanet:98838"} @@ -457119,7 +457210,7 @@ synonym: "angioendotheliomatosis proliferans systemisata" EXACT [Orphanet:98839] synonym: "angiotropic large cell lymphoma" EXACT [NCIT:C4342, Orphanet:98839] synonym: "angiotropic lymphoma" EXACT [NCIT:C4342] synonym: "intravascular B-cell lymphoma" EXACT [NCIT:C4342] -synonym: "intravascular large B-cell lymphoma" EXACT [NCIT:C4342] +synonym: "intravascular large B-cell lymphoma" EXACT [DOID:0081311, icd11.foundation:952730197, NCIT:C4342, Orphanet:98839] synonym: "intravascular lymphomatosis" EXACT [Orphanet:98839] synonym: "IVBCL" RELATED ABBREVIATION [ONCOTREE:IVBCL] synonym: "malignant angioendotheliomatosis" EXACT [NCIT:C4342, Orphanet:98839] @@ -457150,9 +457241,9 @@ subset: orphanet_rare {source="Orphanet:98841"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ALCL" EXACT ABBREVIATION [NCIT:C3720, Orphanet:98841] -synonym: "anaplastic large cell lymphoma" EXACT [MONDO:0005228, NCIT:C3720] -synonym: "CD30 Positive anaplastic large cell lymphoma" EXACT [NCIT:C3720] -synonym: "CD30 positive anaplastic large cell lymphoma" EXACT [Orphanet:98841] +synonym: "anaplastic large cell lymphoma" EXACT [DOID:0050744, MONDO:0005228, NCIT:C3720, Orphanet:98841] +synonym: "CD30 Positive anaplastic large cell lymphoma" EXACT [NCIT:C3720, Orphanet:98841] +synonym: "CD30 positive anaplastic large cell lymphoma" EXACT [NCIT:C3720, Orphanet:98841] synonym: "Ki-1 lymphoma" EXACT [NCIT:C3720] synonym: "Ki-1 positive anaplastic large cell lymphoma" EXACT [Orphanet:98841] synonym: "Ki-1+ ALCL" EXACT [NCIT:C3720] @@ -457192,7 +457283,7 @@ subset: ordo_disorder {source="Orphanet:98842"} subset: orphanet_rare {source="Orphanet:98842"} subset: rare synonym: "LYP" RELATED ABBREVIATION [ONCOTREE:LYP] -synonym: "LyP" EXACT [Orphanet:98842] +synonym: "LyP" EXACT [NCIT:C3721, Orphanet:98842] xref: GARD:6944 {source="MONDO:GARD"} xref: ICD10CM:C86.6 {source="Orphanet:98842", source="Orphanet:98842/e"} xref: icd11.foundation:1791207220 {source="Orphanet:98842", source="MONDO:equivalentTo"} @@ -457251,8 +457342,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:98848"} subset: orphanet_rare {source="Orphanet:98848"} subset: rare -synonym: "indolent systemic mastocytosis (morphologic abnormality)" EXACT [DOID:4660] -synonym: "ism" EXACT [DOID:4660, NCIT:C9286, ONCOTREE:ISM] +synonym: "indolent systemic mastocytosis (morphologic abnormality)" EXACT [] +synonym: "ISM" EXACT ABBREVIATION [DOID:4660, NCIT:C9286] +synonym: "ism" EXACT [ONCOTREE:ISM] xref: DOID:4660 {source="MONDO:equivalentTo"} xref: GARD:19595 {source="MONDO:GARD"} xref: ICD10CM:D47.0 {source="Orphanet:98848", source="Orphanet:98848/ntbt", source="DOID:4660"} @@ -457280,19 +457372,19 @@ subset: ordo_disorder {source="Orphanet:98849"} subset: orphanet_rare {source="Orphanet:98849"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SM-AHN" EXACT ABBREVIATION [NCIT:C9284] -synonym: "SM-AHNMD" EXACT ABBREVIATION [NCIT:C9284] +synonym: "SM-AHN" EXACT ABBREVIATION [NCIT:C9284, Orphanet:98849] +synonym: "SM-AHNMD" EXACT ABBREVIATION [DOID:4797, NCIT:C9284, Orphanet:98849] synonym: "SMAHN" EXACT ABBREVIATION [ONCOTREE:SMAHN] synonym: "systemic mastocytosis with an associated haematological neoplasm" EXACT OMO:0003005 [] synonym: "systemic mastocytosis with an associated haematological neoplasm (SM-AHN)" EXACT OMO:0003005 [] -synonym: "systemic mastocytosis with an associated hematological neoplasm" EXACT [NCIT:C9284] +synonym: "systemic mastocytosis with an associated hematological neoplasm" EXACT [] synonym: "systemic mastocytosis with an associated hematological neoplasm (SM-AHN)" EXACT [NCIT:C9284] -synonym: "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT OMO:0003005 [] +synonym: "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT OMO:0003005 [DOID:4797] synonym: "systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease" EXACT OMO:0003005 [] -synonym: "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease" EXACT [DOID:4797] +synonym: "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease" EXACT [] synonym: "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" EXACT [NCIT:C9284] synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease" EXACT [DOID:4797] -synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)" EXACT [DOID:4797] +synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)" EXACT [] synonym: "systemic mastocytosis with associated hematologic neoplasm" EXACT [Orphanet:98849] xref: DOID:4797 {source="MONDO:equivalentTo"} xref: EFO:1000559 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -457318,7 +457410,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:98850"} subset: orphanet_rare {source="Orphanet:98850"} subset: rare -synonym: "aggressive systemic mastocytosis (morphologic abnormality)" EXACT [DOID:4798] +synonym: "aggressive systemic mastocytosis (morphologic abnormality)" EXACT [] synonym: "ASM" EXACT ABBREVIATION [DOID:4798, NCIT:C9285, ONCOTREE:ASM] synonym: "lymphadenopathic mastocytosis with eosinophilia" EXACT [DOID:4798] xref: DOID:4798 {source="MONDO:equivalentTo"} @@ -457351,10 +457443,10 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aleukemic mast cell leukaemia" EXACT OMO:0003005 [] synonym: "aleukemic mast cell leukemia" EXACT [MONDO:0015561] -synonym: "Mast cell leukaemia" EXACT OMO:0003005 [] -synonym: "Mast cell leukemia" EXACT [NCIT:C3169] +synonym: "Mast cell leukaemia" EXACT OMO:0003005 [icd11.foundation:1359806843, NCIT:C3169] +synonym: "Mast cell leukemia" EXACT [NCIT:C3169, Orphanet:98851] synonym: "mast-cell leukaemia" EXACT OMO:0003005 [] -synonym: "mast-cell leukemia" EXACT [MONDO:0005840] +synonym: "mast-cell leukemia" EXACT [DOID:9254, MONDO:0005840] synonym: "SMMCL" RELATED ABBREVIATION [ONCOTREE:SMMCL] xref: DOID:9254 {source="EFO:0007359", source="MONDO:equivalentTo"} xref: EFO:0007359 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -457394,8 +457486,8 @@ subset: ordo_etiological_subtype {source="Orphanet:98853"} subset: ordo_subtype_of_a_disorder {source="Orphanet:98853"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_LABEL [] -synonym: "EDMD2" NARROW ABBREVIATION [Orphanet:98853] +synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT CLINGEN_LABEL [Orphanet:98853] +synonym: "EDMD2" NARROW ABBREVIATION [] synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: GARD:16865 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:98853", source="Orphanet:98853/attributed", source="Orphanet:98853/ntbt"} @@ -457416,10 +457508,10 @@ subset: orphanet_rare {source="Orphanet:98869"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "anemia, dyserythropoietic, congenital type 1" RELATED [GARD:0002000] -synonym: "CDA I" EXACT [Orphanet:98869] -synonym: "CDA type 1" EXACT [Orphanet:98869] -synonym: "CDA type I" EXACT [Orphanet:98869] -synonym: "congenital dyserythropoietic anemia type 1" EXACT [Orphanet:98869] +synonym: "CDA I" EXACT ABBREVIATION [DOID:0111396, Orphanet:98869] +synonym: "CDA type 1" EXACT [DOID:0111396, Orphanet:98869] +synonym: "CDA type I" EXACT [DOID:0111396, Orphanet:98869] +synonym: "congenital dyserythropoietic anemia type 1" EXACT [DOID:0111396, Orphanet:98869] synonym: "dyserythropoietic anemia, congenital type 1" RELATED [GARD:0002000] synonym: "type I congenital dyserythropoietic anaemia" RELATED OMO:0003005 [] synonym: "type I congenital dyserythropoietic anemia" RELATED [GARD:0002000] @@ -457467,11 +457559,11 @@ intersection_of: has_characteristic HP:0003581 ! Adult onset id: MONDO:0020339 name: obsolete X-linked complex spastic paraplegia subset: ordo_group_of_disorders {source="Orphanet:98888"} -synonym: "Complex X-linked HSP" EXACT [Orphanet:98888] -synonym: "Complex X-linked SPG" EXACT [Orphanet:98888] -synonym: "complicated X-linked HSP" EXACT [Orphanet:98888] -synonym: "complicated X-linked SPG" EXACT [Orphanet:98888] -synonym: "X-linked complicated spastic paraplegia" EXACT [Orphanet:98888] +synonym: "Complex X-linked HSP" EXACT [] +synonym: "Complex X-linked SPG" EXACT [] +synonym: "complicated X-linked HSP" EXACT [] +synonym: "complicated X-linked SPG" EXACT [] +synonym: "X-linked complicated spastic paraplegia" EXACT [] xref: ICD10CM:G11.4 {source="Orphanet:98888/attributed", source="Orphanet:98888/ntbt", source="Orphanet:98888"} xref: Orphanet:98888 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -457509,7 +457601,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:98892"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "periventricular heterotopia" EXACT [DOID:0050454] -synonym: "periventricular nodular heterotopia" EXACT CLINGEN_LABEL [] +synonym: "periventricular nodular heterotopia" EXACT CLINGEN_LABEL [DOID:0050454, icd11.foundation:20200096, OMIMPS:300049, Orphanet:98892] xref: DOID:0050454 {source="MONDO:equivalentTo"} xref: GARD:12724 {source="MONDO:GARD"} xref: ICD10CM:Q04.8 {source="Orphanet:98892/attributed", source="Orphanet:98892/ntbt", source="Orphanet:98892"} @@ -457540,7 +457632,7 @@ id: MONDO:0020343 name: obsolete alpha-crystallinopathy subset: ordo_group_of_disorders {source="Orphanet:98910"} subset: otar {source="MONDO:OTAR"} -synonym: "CRYAB-related myofobrillar myopathy" EXACT [Orphanet:98910] +synonym: "CRYAB-related myofobrillar myopathy" EXACT [] xref: ICD10CM:G71.8 {source="Orphanet:98910/attributed", source="Orphanet:98910/ntbt", source="Orphanet:98910"} xref: Orphanet:98910 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -457559,7 +457651,7 @@ subset: ordo_etiological_subtype {source="Orphanet:98913"} subset: ordo_subtype_of_a_disorder {source="Orphanet:98913"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "postsynaptic congenital myasthenic syndromes" RELATED [Orphanet:98913] +synonym: "postsynaptic congenital myasthenic syndromes" RELATED [] xref: GARD:15022 {source="MONDO:GARD"} xref: ICD10CM:G70.2 {source="Orphanet:98913", source="Orphanet:98913/attributed", source="Orphanet:98913/ntbt"} xref: MEDGEN:199758 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -457577,7 +457669,7 @@ id: MONDO:0020345 name: obsolete presynaptic congenital myasthenic syndrome subset: ordo_subtype_of_a_disorder {source="Orphanet:98914"} subset: otar {source="MONDO:OTAR"} -synonym: "presynaptic congenital myasthenic syndromes" RELATED [Orphanet:98914] +synonym: "presynaptic congenital myasthenic syndromes" RELATED [] xref: ICD10CM:G70.2 {source="Orphanet:98914", source="Orphanet:98914/attributed", source="Orphanet:98914/ntbt"} xref: Orphanet:98914 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -457593,7 +457685,7 @@ id: MONDO:0020346 name: obsolete synaptic congenital myasthenic syndrome subset: ordo_subtype_of_a_disorder {source="Orphanet:98915"} subset: otar {source="MONDO:OTAR"} -synonym: "synaptic congenital myasthenic syndromes" RELATED [Orphanet:98915] +synonym: "synaptic congenital myasthenic syndromes" RELATED [] xref: ICD10CM:G70.2 {source="Orphanet:98915/attributed", source="Orphanet:98915/ntbt", source="Orphanet:98915"} xref: Orphanet:98915 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -457617,9 +457709,9 @@ subset: rare synonym: "acute idiopathic demyelinating polyneuropathy" EXACT [Orphanet:98916] synonym: "acute inflammatory demyelinating polyradiculopathy" EXACT [NCIT:C116926] synonym: "acute inflammatory polyneuropathy" EXACT [Orphanet:98916] -synonym: "AIDP" EXACT ABBREVIATION [Orphanet:98916] +synonym: "AIDP" EXACT ABBREVIATION [NCIT:C116926, Orphanet:98916] synonym: "GBS, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916] -synonym: "Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916] +synonym: "Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [] synonym: "Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" EXACT [Orphanet:98916] xref: GARD:16873 {source="MONDO:GARD"} xref: ICD10CM:G61.0 {source="Orphanet:98916", source="Orphanet:98916/ntbt"} @@ -457644,7 +457736,7 @@ subset: ordo_disorder {source="Orphanet:98917"} subset: orphanet_rare {source="Orphanet:98917"} subset: rare synonym: "acute motor-sensory axonal GBS" EXACT [Orphanet:98917] -synonym: "acute motor-sensory axonal Guillain-Barre syndrome" EXACT [Orphanet:98917] +synonym: "acute motor-sensory axonal Guillain-Barre syndrome" EXACT [] synonym: "acute motor-sensory axonal Guillain-Barré syndrome" EXACT [Orphanet:98917] synonym: "acute motor-sensory axonal neuropathy" EXACT [NCIT:C116927] synonym: "AMSAN" EXACT ABBREVIATION [Orphanet:98917] @@ -457669,9 +457761,9 @@ subset: ordo_disorder {source="Orphanet:98918"} subset: orphanet_rare {source="Orphanet:98918"} subset: rare synonym: "acute pure motor GBS" EXACT [Orphanet:98918] -synonym: "acute pure motor Guillain-Barre syndrome" EXACT [Orphanet:98918] +synonym: "acute pure motor Guillain-Barre syndrome" EXACT [] synonym: "acute pure motor Guillain-Barré syndrome" EXACT [Orphanet:98918] -synonym: "AMAN" EXACT ABBREVIATION [Orphanet:98918] +synonym: "AMAN" EXACT ABBREVIATION [NCIT:C116929, Orphanet:98918] xref: GARD:19602 {source="MONDO:GARD"} xref: ICD10CM:G61.0 {source="Orphanet:98918/ntbt", source="Orphanet:98918"} xref: icd11.foundation:745197078 {source="MONDO:equivalentTo"} @@ -457794,7 +457886,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:98944"} subset: orphanet_rare {source="Orphanet:98944"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "coloboma of iris" EXACT [MONDO:ambiguous] +synonym: "coloboma of iris" EXACT [icd11.foundation:1552972259, MONDO:ambiguous, NCIT:C98879, Orphanet:98944] synonym: "coloboma of iris (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "coloboma of the iris" EXACT [NCIT:C98879] xref: GARD:1434 {source="MONDO:GARD"} @@ -457961,11 +458053,11 @@ subset: gard_rare {source="GARD:19610", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant CHED" EXACT [Orphanet:98975] -synonym: "autosomal dominant congenital hereditary endothelial dystrophy" EXACT [Orphanet:98975] -synonym: "CHED1" EXACT ABBREVIATION [Orphanet:98975] -synonym: "CHEDI" EXACT ABBREVIATION [Orphanet:98975] -synonym: "congenital hereditary endothelial dystrophy type 1" EXACT [Orphanet:98975] +synonym: "autosomal dominant CHED" EXACT [] +synonym: "autosomal dominant congenital hereditary endothelial dystrophy" EXACT [] +synonym: "CHED1" EXACT ABBREVIATION [] +synonym: "CHEDI" EXACT ABBREVIATION [] +synonym: "congenital hereditary endothelial dystrophy type 1" EXACT [] xref: GARD:19610 {source="MONDO:GARD"} xref: ICD10CM:H18.5 {source="Orphanet:98975/attributed", source="Orphanet:98975/ntbt", source="Orphanet:98975"} xref: MEDGEN:736888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -457984,11 +458076,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "buphthalmia" EXACT [Orphanet:98976] -synonym: "buphthalmos" EXACT [Orphanet:98976] -synonym: "Buphthalmus" EXACT [Orphanet:98976] -synonym: "hydrophthalmos" EXACT [MONDO:0006788] -synonym: "primary congenital glaucoma" NARROW [Orphanet:98976] +synonym: "buphthalmia" EXACT [] +synonym: "buphthalmos" EXACT [] +synonym: "Buphthalmus" EXACT [] +synonym: "hydrophthalmos" EXACT [DOID:11212, MONDO:0006788] +synonym: "primary congenital glaucoma" NARROW [] xref: DOID:11212 {source="MONDO:equivalentTo", source="EFO:1000968"} xref: ICD10CM:Q15.0 {source="Orphanet:98976", source="Orphanet:98976/e", source="Orphanet:98976/specific", source="DOID:11212"} xref: ICD9:743.2 {source="DOID:11212"} @@ -458031,7 +458123,7 @@ synonym: "childhood glaucoma (disease)" EXACT [] synonym: "glaucoma (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "glaucoma of childhood" EXACT [DOID:1068, ICD9CM:365.14] synonym: "JOAG" EXACT ABBREVIATION [] -synonym: "juvenile glaucoma" EXACT [] +synonym: "juvenile glaucoma" EXACT [DOID:1068, Orphanet:98977] synonym: "paediatric glaucoma (disease)" EXACT OMO:0003005 [] synonym: "pediatric glaucoma (disease)" EXACT [MONDO:patterns/childhood] xref: DOID:1068 {source="MONDO:equivalentTo"} @@ -458080,7 +458172,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:918"} subset: ordo_subtype_of_a_disorder {source="Orphanet:98979"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Chandler's Syndrome" EXACT [NORD:918] +synonym: "Chandler's Syndrome" EXACT [DOID:11554, NORD:918] synonym: "Chandler's syndrome" EXACT [DOID:11554, GARD:0006033] synonym: "dystrophy of corneal endothelium" EXACT [DOID:11554] synonym: "endothelial corneal dystrophy" EXACT [DOID:11554, ICD9CM:371.57] @@ -458187,7 +458279,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:98989"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "blue-dot cataract" EXACT [Orphanet:98989] +synonym: "blue-dot cataract" EXACT [icd11.foundation:1188848969, Orphanet:98989] synonym: "cataract, congenital, blue dot type 1" RELATED [GARD:0009508] synonym: "cataract, congenital, cerulean type 1" RELATED [GARD:0009508] xref: GARD:9508 {source="MONDO:GARD"} @@ -458295,7 +458387,7 @@ synonym: "autosomal dominant spinocerebellar ataxia" EXACT [Orphanet:99] synonym: "cerebellar ataxia, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "Pierre Marie cerebellar ataxia (formerly)" RELATED [GARD:0004346] synonym: "SCA" BROAD ABBREVIATION [] -synonym: "spinocerebellar ataxia" BROAD [DOID:1441] +synonym: "spinocerebellar ataxia" BROAD [] xref: DOID:1441 {source="MONDO:equivalentTo"} xref: GARD:4346 {source="MONDO:GARD"} xref: ICD10CM:G11.8 {source="Orphanet:99/attributed", source="Orphanet:99/ntbt", source="Orphanet:99"} @@ -458437,9 +458529,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99045"} subset: rare synonym: "DORV with subpulmonary VSD" EXACT [Orphanet:99045] -synonym: "DORV-TGA" EXACT [Orphanet:99045] +synonym: "DORV-TGA" EXACT ABBREVIATION [Orphanet:99045] synonym: "Double outlet right ventricle with transposition of the great arteries" EXACT [Orphanet:99045] -synonym: "Taussig-Bing syndrome" EXACT [Orphanet:99045] +synonym: "Taussig-Bing syndrome" EXACT [icd11.foundation:1963185163, Orphanet:99045] xref: GARD:19616 {source="MONDO:GARD"} xref: ICD10CM:Q20.1 {source="Orphanet:99045/attributed", source="Orphanet:99045/ntbt", source="Orphanet:99045"} xref: icd11.foundation:1963185163 {source="MONDO:equivalentTo", source="Orphanet:99045", source="https://orcid.org/0000-0002-4142-7153"} @@ -458474,10 +458566,10 @@ subset: ordo_disorder {source="Orphanet:99048"} subset: ordo_malformation_syndrome {source="Orphanet:99048"} subset: orphanet_rare {source="Orphanet:99048"} subset: rare -synonym: "absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome" EXACT [Orphanet:99048] +synonym: "absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome" EXACT [] synonym: "APV/PDA, non-Fallot type" EXACT [Orphanet:99048] -synonym: "pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome" RELATED [Orphanet:99048] -synonym: "PVA/PDA, non-Fallot type" EXACT [Orphanet:99048] +synonym: "pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome" RELATED [] +synonym: "PVA/PDA, non-Fallot type" EXACT [] xref: GARD:19618 {source="MONDO:GARD"} xref: ICD10CM:Q22.2 {source="Orphanet:99048", source="Orphanet:99048/ntbt"} xref: MEDGEN:1678560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -458630,7 +458722,7 @@ subset: ordo_disorder {source="Orphanet:99057"} subset: ordo_morphological_anomaly {source="Orphanet:99057"} subset: orphanet_rare {source="Orphanet:99057"} subset: rare -synonym: "congenital mitral stenosis" EXACT [MONDO:ambiguous] +synonym: "congenital mitral stenosis" EXACT [ICD10CM:Q23.2, icd11.foundation:2102952411, MONDO:ambiguous, Orphanet:99057] synonym: "congenital mitral stenosis (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "congenital mitral valve stenosis" EXACT [] synonym: "hereditary mitral valve stenosis" EXACT [MONDO:patterns/hereditary] @@ -458792,9 +458884,9 @@ id: MONDO:0020406 name: complete atrioventricular canal-left heart obstruction syndrome subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CAVC type A" EXACT [Orphanet:99066] -synonym: "CAVC-left heart obstruction syndrome" EXACT [Orphanet:99066] -synonym: "complete atrioventricular canal type A" EXACT [Orphanet:99066] +synonym: "CAVC type A" EXACT [] +synonym: "CAVC-left heart obstruction syndrome" EXACT [] +synonym: "complete atrioventricular canal type A" EXACT [] xref: ICD10CM:Q21.2 {source="Orphanet:99066/attributed", source="Orphanet:99066/ntbt", source="Orphanet:99066"} xref: Orphanet:99066 {source="MONDO:equivalentObsolete"} is_a: MONDO:0015273 {source="Orphanet:99066"} ! complete atrioventricular canal @@ -458806,9 +458898,9 @@ subset: gard_rare {source="GARD:16893", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99067"} subset: rare -synonym: "CAVC type B" EXACT [Orphanet:99067] -synonym: "CAVC-ventricle hypoplasia syndrome" EXACT [Orphanet:99067] -synonym: "complete atrioventricular canal type B" EXACT [Orphanet:99067] +synonym: "CAVC type B" EXACT [] +synonym: "CAVC-ventricle hypoplasia syndrome" EXACT [] +synonym: "complete atrioventricular canal type B" EXACT [] xref: GARD:16893 {source="MONDO:GARD"} xref: ICD10CM:Q21.2 {source="Orphanet:99067/attributed", source="Orphanet:99067/ntbt", source="Orphanet:99067"} xref: MEDGEN:1842918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -458823,9 +458915,9 @@ subset: gard_rare {source="GARD:16894", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99068"} subset: rare -synonym: "CAVC type C" EXACT [Orphanet:99068] -synonym: "CAVC-Fallot tetralogy syndrome" EXACT [Orphanet:99068] -synonym: "complete atrioventricular canal type C" EXACT [Orphanet:99068] +synonym: "CAVC type C" EXACT [] +synonym: "CAVC-Fallot tetralogy syndrome" EXACT [] +synonym: "complete atrioventricular canal type C" EXACT [] xref: GARD:16894 {source="MONDO:GARD"} xref: ICD10CM:Q21.2 {source="Orphanet:99068/attributed", source="Orphanet:99068/ntbt", source="Orphanet:99068"} xref: MEDGEN:768726 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -458979,7 +459071,7 @@ subset: ordo_disorder {source="Orphanet:99081"} subset: ordo_morphological_anomaly {source="Orphanet:99081"} subset: orphanet_rare {source="Orphanet:99081"} subset: rare -synonym: "right aortic arch" EXACT [MONDO:ambiguous] +synonym: "right aortic arch" EXACT [icd11.foundation:769265824, MONDO:ambiguous, NCIT:C103917, Orphanet:99081] synonym: "right aortic arch (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:19640 {source="MONDO:GARD"} xref: HP:0012020 {source="MONDO:otherHierarchy"} @@ -459021,7 +459113,7 @@ subset: ordo_disorder {source="Orphanet:99083"} subset: ordo_morphological_anomaly {source="Orphanet:99083"} subset: orphanet_rare {source="Orphanet:99083"} subset: rare -synonym: "pulmonary artery hypoplasia" EXACT [MONDO:ambiguous] +synonym: "pulmonary artery hypoplasia" EXACT [MONDO:ambiguous, Orphanet:99083] synonym: "pulmonary artery hypoplasia (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: GARD:19642 {source="MONDO:GARD"} xref: HP:0004971 {source="MONDO:otherHierarchy"} @@ -459047,8 +459139,8 @@ subset: ordo_disorder {source="Orphanet:99084"} subset: ordo_morphological_anomaly {source="Orphanet:99084"} subset: orphanet_rare {source="Orphanet:99084"} subset: rare -synonym: "branch pulmonary artery stenosis" EXACT [Orphanet:99084] -synonym: "peripheral pulmonary stenosis" RELATED [Orphanet:99084] +synonym: "branch pulmonary artery stenosis" EXACT [NCIT:C99144, Orphanet:99084] +synonym: "peripheral pulmonary stenosis" RELATED [] synonym: "pulmonary artery stenosis, branch (not PPS)" EXACT [NCIT:C99144] xref: GARD:4589 {source="MONDO:GARD"} xref: ICD10CM:Q25.6 {source="Orphanet:99084", source="Orphanet:99084/e"} @@ -459103,7 +459195,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:99087"} subset: orphanet_rare {source="Orphanet:99087"} subset: rare synonym: "coronary ostial stenosis or atresia" EXACT [Orphanet:99087] -synonym: "stenosis or atresia of the coronary ostium" RELATED [Orphanet:99087] +synonym: "stenosis or atresia of the coronary ostium" RELATED [] xref: GARD:19643 {source="MONDO:GARD"} xref: ICD10CM:Q24.5 {source="Orphanet:99087", source="Orphanet:99087/ntbt"} xref: MEDGEN:1842382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -459203,7 +459295,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:99095"} subset: orphanet_rare {source="Orphanet:99095"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Gerbode defect" EXACT [Orphanet:99095] +synonym: "Gerbode defect" EXACT [] synonym: "left ventricular-to-right atrial communication" EXACT [Orphanet:99095] xref: GARD:19647 {source="MONDO:GARD"} xref: ICD10CM:Q21.0 {source="Orphanet:99095", source="Orphanet:99095/ntbt"} @@ -459226,7 +459318,7 @@ subset: ordo_disorder {source="Orphanet:99098"} subset: ordo_morphological_anomaly {source="Orphanet:99098"} subset: orphanet_rare {source="Orphanet:99098"} subset: rare -synonym: "cor triatriatum dexter" EXACT [MONDO:ambiguous] +synonym: "cor triatriatum dexter" EXACT [MONDO:ambiguous, Orphanet:99098] synonym: "cor triatriatum dexter (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "cor triatriatum dextrum" EXACT [Orphanet:99098] synonym: "divided right atrium" EXACT [Orphanet:99098] @@ -459251,8 +459343,8 @@ subset: ordo_disorder {source="Orphanet:99099"} subset: ordo_morphological_anomaly {source="Orphanet:99099"} subset: orphanet_rare {source="Orphanet:99099"} subset: rare -synonym: "cor triatriatum sinistrum" EXACT [Orphanet:99099] -synonym: "divided left atrium" EXACT [Orphanet:99099] +synonym: "cor triatriatum sinistrum" EXACT [icd11.foundation:90967508, Orphanet:99099] +synonym: "divided left atrium" EXACT [icd11.foundation:90967508, Orphanet:99099] xref: GARD:12484 {source="MONDO:GARD"} xref: ICD10CM:Q24.2 {source="Orphanet:99099/ntbt", source="Orphanet:99099"} xref: icd11.foundation:90967508 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:99099"} @@ -459318,10 +459410,10 @@ subset: ordo_disorder {source="Orphanet:99102"} subset: ordo_morphological_anomaly {source="Orphanet:99102"} subset: orphanet_rare {source="Orphanet:99102"} subset: rare -synonym: "dilatation of the left appendage" EXACT [Orphanet:99102] +synonym: "dilatation of the left appendage" EXACT [] synonym: "dilatation of the left atrial appendage" EXACT [Orphanet:99102] synonym: "dilatation of the left auricle" EXACT [Orphanet:99102] -synonym: "ectasia of the left atrial appendage" RELATED [Orphanet:99102] +synonym: "ectasia of the left atrial appendage" RELATED [] synonym: "ectasia of the left auricle" EXACT [Orphanet:99102] xref: GARD:19650 {source="MONDO:GARD"} xref: ICD10CM:Q20.8 {source="Orphanet:99102/ntbt", source="Orphanet:99102"} @@ -459417,16 +459509,16 @@ subset: rare synonym: "ASD ostium primum type" EXACT [GARD:0010695] synonym: "ASD, ostium primum type" EXACT [Orphanet:99106] synonym: "atrial septal defect ostium primum" EXACT [GARD:0010695] -synonym: "atrioventricular defect with atrial shunting only" EXACT [PMID:34304616] -synonym: "incomplete atrioventricular canal defect with isolated atrial component" EXACT [PMID:34304616] -synonym: "incomplete atrioventricular septal defect with isolated atrial component" EXACT [PMID:34304616] +synonym: "atrioventricular defect with atrial shunting only" EXACT [icd11.foundation:1159570489, PMID:34304616] +synonym: "incomplete atrioventricular canal defect with isolated atrial component" EXACT [icd11.foundation:1159570489, PMID:34304616] +synonym: "incomplete atrioventricular septal defect with isolated atrial component" EXACT [icd11.foundation:1159570489, PMID:34304616] synonym: "ostium primum ASD" EXACT [GARD:0010695] -synonym: "partial atrioventricular canal defect with isolated atrial component" EXACT [PMID:34304616] -synonym: "partial atrioventricular septal defect" EXACT [PMID:34304616] +synonym: "partial atrioventricular canal defect with isolated atrial component" EXACT [icd11.foundation:1159570489, PMID:34304616] +synonym: "partial atrioventricular septal defect" EXACT [icd11.foundation:1159570489, PMID:34304616] synonym: "partial atrioventricular septal defect: ostium primum type" EXACT [PMID:34304616] synonym: "PAVC" EXACT ABBREVIATION [PMID:34304616] synonym: "PAVSD" EXACT ABBREVIATION [] -synonym: "primum atrial septal defect" EXACT [PMID:34304616] +synonym: "primum atrial septal defect" EXACT [icd11.foundation:1159570489, PMID:34304616] xref: GARD:10695 {source="MONDO:GARD"} xref: ICD10CM:Q21.2 {source="Orphanet:99106/inclusion", source="Orphanet:99106", source="Orphanet:99106/ntbt"} xref: icd11.foundation:1159570489 {source="Orphanet:99106", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -459471,7 +459563,7 @@ synonym: "atrial septal defect within oval fossa" EXACT [DOID:13620] synonym: "defect, patent or persistent, ostium secundum" EXACT [DOID:13620] synonym: "foramen ovale patent" EXACT [DOID:13620] synonym: "ostium secundum type atrial septal defect" EXACT [DOID:13620, ICD9CM:745.5] -synonym: "patent foramen ovale" EXACT [MONDO:ambiguous] +synonym: "patent foramen ovale" EXACT [DOID:13620, MONDO:ambiguous, NCIT:C34619] synonym: "patent foramen ovale (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "persistent ostium secundum" EXACT [DOID:13620] xref: DOID:13620 {source="MONDO:equivalentTo"} @@ -459502,9 +459594,9 @@ subset: ordo_disorder {source="Orphanet:99109"} subset: ordo_morphological_anomaly {source="Orphanet:99109"} subset: orphanet_rare {source="Orphanet:99109"} subset: rare -synonym: "left superior caval vein persisting to the left-sided atrium" EXACT [Orphanet:99109] -synonym: "persistent left superior caval vein connecting to the left-sided atrium" EXACT [Orphanet:99109] -synonym: "persistent left SVC connecting to the left-sided atrium" EXACT [Orphanet:99109] +synonym: "left superior caval vein persisting to the left-sided atrium" EXACT [] +synonym: "persistent left superior caval vein connecting to the left-sided atrium" EXACT [] +synonym: "persistent left SVC connecting to the left-sided atrium" EXACT [] xref: GARD:19652 {source="MONDO:GARD"} xref: ICD10CM:Q26.1 {source="Orphanet:99109", source="Orphanet:99109/ntbt"} xref: MEDGEN:1830102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -459540,8 +459632,8 @@ subset: ordo_disorder {source="Orphanet:99111"} subset: ordo_morphological_anomaly {source="Orphanet:99111"} subset: orphanet_rare {source="Orphanet:99111"} subset: rare -synonym: "left superior caval vein persisting to left-sided atrium" EXACT [Orphanet:99111] -synonym: "left SVC persisting to left-sided atrium" EXACT [Orphanet:99111] +synonym: "left superior caval vein persisting to left-sided atrium" EXACT [] +synonym: "left SVC persisting to left-sided atrium" EXACT [] xref: GARD:19654 {source="MONDO:GARD"} xref: ICD10CM:Q26.1 {source="Orphanet:99111/ntbt", source="Orphanet:99111"} xref: ICD9:747.49 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -459753,8 +459845,8 @@ subset: ordo_disorder {source="Orphanet:99124"} subset: ordo_morphological_anomaly {source="Orphanet:99124"} subset: orphanet_rare {source="Orphanet:99124"} subset: rare -synonym: "Partial anomalous pulmonary Venous connection" EXACT [NCIT:C99004] -synonym: "Partial anomalous pulmonary Venous return" EXACT [NCIT:C99004] +synonym: "Partial anomalous pulmonary Venous connection" EXACT [icd11.foundation:1041585584, NCIT:C99004] +synonym: "Partial anomalous pulmonary Venous return" EXACT [icd11.foundation:1041585584, NCIT:C99004] xref: GARD:19665 {source="MONDO:GARD"} xref: ICD10CM:Q26.3 {source="Orphanet:99124/e", source="Orphanet:99124"} xref: icd11.foundation:1041585584 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:99124"} @@ -459847,7 +459939,7 @@ subset: orphanet_rare {source="Orphanet:99138"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adenosine deaminase, elevated, hemolytic anaemia due to" EXACT OMO:0003005 [] -synonym: "adenosine deaminase, elevated, hemolytic anemia due to" EXACT [OMIM:102730] +synonym: "adenosine deaminase, elevated, hemolytic anemia due to" EXACT [OMIM:301083] xref: GARD:19669 {source="MONDO:GARD"} xref: ICD10CM:D55.3 {source="Orphanet:99138/attributed", source="Orphanet:99138/ntbt", source="Orphanet:99138"} xref: icd11.foundation:1200845933 {source="Orphanet:99138", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -459890,7 +459982,7 @@ subset: orphanet_rare {source="Orphanet:99147"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acquired von Willebrand disease" EXACT [Orphanet:99147] -synonym: "acquired von willebrand disease" EXACT [MONDO:patterns/acquired] +synonym: "acquired von willebrand disease" EXACT [MONDO:patterns/acquired, Orphanet:99147] synonym: "acquired von Willebrand disease (hereditary or acquired)" EXACT [MONDO:patterns/acquired] synonym: "AVWS" EXACT ABBREVIATION [DOID:0111146] synonym: "Willebrand disease, acquired" RELATED [GARD:0005573] @@ -460017,7 +460109,7 @@ subset: ordo_etiological_subtype {source="Orphanet:99226"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99226"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "monosomy type X" EXACT [MONDORULE:1, Orphanet:99226] +synonym: "monosomy type X" EXACT [MONDORULE:1] xref: GARD:19676 {source="MONDO:GARD"} xref: ICD10CM:Q96.9 {source="Orphanet:99226/ntbt", source="Orphanet:99226", source="Orphanet:99226/index"} xref: icd11.foundation:95979116 {source="Orphanet:99226", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -460041,7 +460133,7 @@ subset: ordo_etiological_subtype {source="Orphanet:99228"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99228"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Mosaic monosomy type X" EXACT [MONDORULE:1, Orphanet:99228] +synonym: "Mosaic monosomy type X" EXACT [MONDORULE:1] synonym: "Mosaic Turner syndrome" EXACT [PMID:12516330, PMID:29159084] synonym: "XX/XO" EXACT [PMID:12516330, PMID:29159084] xref: GARD:19677 {source="MONDO:GARD"} @@ -460069,7 +460161,7 @@ subset: ordo_disorder {source="Orphanet:99324"} subset: ordo_malformation_syndrome {source="Orphanet:99324"} subset: orphanet_rare {source="Orphanet:99324"} subset: rare -synonym: "paternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2, Orphanet:99324] +synonym: "paternal uniparental disomy of chromosome type 13" EXACT [MONDORULE:2] synonym: "UPD(13)pat" EXACT [Orphanet:99324] xref: GARD:19678 {source="MONDO:GARD"} xref: ICD10CM:Q99.8 {source="Orphanet:99324", source="Orphanet:99324/attributed", source="Orphanet:99324/ntbt"} @@ -460171,7 +460263,7 @@ subset: gard_rare {source="GARD:19682", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "generalised enchondromatosis with platyspondyly" EXACT OMO:0003005 [] -synonym: "generalized enchondromatosis with platyspondyly" EXACT [Orphanet:99647] +synonym: "generalized enchondromatosis with platyspondyly" EXACT [] xref: GARD:19682 {source="MONDO:GARD"} xref: icd11.foundation:1707937102 {source="MONDO:equivalentTo"} xref: MEDGEN:1390387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -460208,7 +460300,7 @@ subset: ordo_disorder {source="Orphanet:99701"} subset: orphanet_rare {source="Orphanet:99701"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MTLE-HS" EXACT [Orphanet:99701] +synonym: "MTLE-HS" EXACT ABBREVIATION [Orphanet:99701] xref: GARD:19684 {source="MONDO:GARD"} xref: MEDGEN:1659013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:1200588 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -460236,7 +460328,7 @@ subset: ordo_disorder {source="Orphanet:99718"} subset: orphanet_rare {source="Orphanet:99718"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LHON plus disease" EXACT [Orphanet:99718] +synonym: "LHON plus disease" EXACT [DOID:0111754, Orphanet:99718] xref: DOID:0111754 {source="MONDO:equivalentTo"} xref: GARD:8476 {source="MONDO:GARD"} xref: ICD10CM:H47.2 {source="MONDO:relatedTo", source="Orphanet:99718/attributed", source="Orphanet:99718/ntbt", source="Orphanet:99718"} @@ -460285,10 +460377,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99732"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" EXACT [DOID:0111165, Orphanet:99732] +synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" EXACT [DOID:0111165, icd11.foundation:819219337, Orphanet:99732] synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase" RELATED [GARD:0003705] synonym: "MOCOD" EXACT ABBREVIATION [DOID:0111165, Orphanet:99732] -synonym: "molybdenum cofactor deficiency" RELATED [OMIMPS:252150] +synonym: "molybdenum cofactor deficiency" RELATED [] xref: DOID:0111165 {source="MONDO:equivalentTo"} xref: GARD:3705 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:99732/attributed", source="Orphanet:99732/ntbt", source="Orphanet:99732", source="DOID:0111165"} @@ -460312,7 +460404,7 @@ subset: ordo_disorder {source="Orphanet:99734"} subset: orphanet_rare {source="Orphanet:99734"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "exercise-induced delayed-onset myotonia" EXACT [Orphanet:99734] +synonym: "exercise-induced delayed-onset myotonia" EXACT [NCIT:C122789, Orphanet:99734] synonym: "Fluctuating myotonia" EXACT [Orphanet:99734] synonym: "MF" EXACT ABBREVIATION [NCIT:C122789] xref: GARD:16904 {source="MONDO:GARD"} @@ -460376,8 +460468,8 @@ id: MONDO:0020484 name: obsolete rare familial disorder with hypertrophic cardiomyopathy subset: disease_grouping subset: ordo_group_of_disorders {source="Orphanet:99739"} -synonym: "rare familial disorder with hypertrophic obstructive cardiomyopathy" EXACT [Orphanet:99739] -synonym: "rare familial disorder with hypertrophic subaortic stenosis" EXACT [Orphanet:99739] +synonym: "rare familial disorder with hypertrophic obstructive cardiomyopathy" EXACT [] +synonym: "rare familial disorder with hypertrophic subaortic stenosis" EXACT [] xref: Orphanet:99739 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI @@ -460463,13 +460555,13 @@ id: MONDO:0020489 name: obsolete familial hyperreninemic hypoaldosteronism type 1 subset: ordo_etiological_subtype {source="Orphanet:99763"} subset: otar {source="MONDO:OTAR"} -synonym: "18-hydroxylase deficiency" EXACT [Orphanet:99763] -synonym: "18-oxidase deficiency" EXACT [Orphanet:99763] -synonym: "aldosterone synthase deficiency" EXACT [Orphanet:99763] -synonym: "CMO I" EXACT [Orphanet:99763] -synonym: "CMO II" EXACT [Orphanet:99763] -synonym: "corticosterone methyloxidase deficiency type I" EXACT [Orphanet:99763] -synonym: "FHHA1" EXACT ABBREVIATION [Orphanet:99763] +synonym: "18-hydroxylase deficiency" EXACT [] +synonym: "18-oxidase deficiency" EXACT [] +synonym: "aldosterone synthase deficiency" EXACT [] +synonym: "CMO I" EXACT [] +synonym: "CMO II" EXACT [] +synonym: "corticosterone methyloxidase deficiency type I" EXACT [] +synonym: "FHHA1" EXACT ABBREVIATION [] xref: ICD10CM:E27.4 {source="Orphanet:99763", source="Orphanet:99763/attributed", source="Orphanet:99763/ntbt"} xref: NANDO:2200365 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:99763 {source="MONDO:obsoleteEquivalentObsolete"} @@ -460490,7 +460582,7 @@ subset: orphanet_rare {source="Orphanet:99776"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Mosaic trisomy chromosome 9" RELATED [GARD:0000043] -synonym: "Mosaic trisomy type 9" EXACT [MONDORULE:1, Orphanet:99776] +synonym: "Mosaic trisomy type 9" EXACT [MONDORULE:1] synonym: "trisomy 9 mosaicism" RELATED [GARD:0000043] xref: GARD:43 {source="MONDO:GARD"} xref: ICD10CM:Q92.1 {source="Orphanet:99776/attributed", source="Orphanet:99776/ntbt", source="Orphanet:99776"} @@ -460520,9 +460612,9 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "band heterotopia" EXACT [DOID:0111169] synonym: "Double cortex" RELATED [GARD:0001904] -synonym: "double cortex syndrome" EXACT [DOID:0111169] +synonym: "double cortex syndrome" EXACT [DOID:0111169, NCIT:C116933] synonym: "familial band heterotopia" RELATED [GARD:0002250] -synonym: "HeCo" EXACT [DOID:0111169] +synonym: "HeCo" EXACT ABBREVIATION [DOID:0111169] synonym: "heterotopic cortex" EXACT [DOID:0111169] synonym: "subcortical laminar heterotopia" EXACT [DOID:0111169, Orphanet:99796] xref: DOID:0111169 {source="MONDO:equivalentTo"} @@ -460550,7 +460642,7 @@ subset: orphanet_rare {source="Orphanet:99802"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "macrencephaly" RELATED [GARD:0002637] -synonym: "unilateral megalencephaly" EXACT [Orphanet:99802] +synonym: "unilateral megalencephaly" EXACT [icd11.foundation:961229160, NCIT:C177779, Orphanet:99802] xref: GARD:2637 {source="MONDO:GARD"} xref: ICD10CM:Q04.5 {source="Orphanet:99802", source="Orphanet:99802/attributed", source="Orphanet:99802/ntbt"} xref: icd11.foundation:961229160 {source="MONDO:equivalentTo"} @@ -460579,7 +460671,7 @@ subset: orphanet_rare {source="Orphanet:99803"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "congenital central alveolar hypoventilation-Hirschsprung disease syndrome" EXACT [Orphanet:99803] -synonym: "Haddad syndrome" EXACT CLINGEN_LABEL [] +synonym: "Haddad syndrome" EXACT CLINGEN_LABEL [icd11.foundation:1685926536, Orphanet:99803] synonym: "ondine-Hirschsprung disease" EXACT [Orphanet:99803] synonym: "ondine-Hirschsprung syndrome" EXACT [Orphanet:99803] xref: GARD:16909 {source="MONDO:GARD"} @@ -460620,9 +460712,9 @@ subset: gard_rare {source="GARD:16911", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:99807"} subset: orphanet_rare {source="Orphanet:99807"} subset: rare -synonym: "PEHO syndrome-like" EXACT [OMIM:617507, OMIM:genemap2] -synonym: "peho-like syndrome" EXACT [OMIM:617507] -synonym: "PEHOL" RELATED ABBREVIATION [OMIM:617507] +synonym: "PEHO syndrome-like" EXACT [] +synonym: "peho-like syndrome" EXACT [OMIM:617507, Orphanet:99807] +synonym: "PEHOL" RELATED ABBREVIATION [] synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome" EXACT [OMIM:617507] xref: GARD:16911 {source="MONDO:GARD"} xref: MEDGEN:337956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -460721,9 +460813,9 @@ subset: ordo_disorder {source="Orphanet:99826"} subset: orphanet_rare {source="Orphanet:99826"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Green monkey disease" EXACT [Orphanet:99826] -synonym: "Marburg disease" EXACT [DOID:4327] -synonym: "Marburg virus disease" EXACT [DOID:4327, Orphanet:99826] +synonym: "Green monkey disease" EXACT [icd11.foundation:696598707, Orphanet:99826] +synonym: "Marburg disease" EXACT [DOID:4327, icd11.foundation:696598707] +synonym: "Marburg virus disease" EXACT [DOID:4327, NCIT:C84883, Orphanet:99826] synonym: "MHF" EXACT ABBREVIATION [Orphanet:99826] xref: DOID:4327 {source="EFO:0007358", source="MONDO:equivalentTo"} xref: EFO:0007358 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -460754,14 +460846,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:99827"} subset: orphanet_rare {source="Orphanet:99827"} subset: rare -synonym: "CCHF" EXACT ABBREVIATION [Orphanet:99827] +synonym: "CCHF" EXACT ABBREVIATION [NCIT:C34682, Orphanet:99827] synonym: "CHF Congo virus" EXACT [DOID:12287] synonym: "Congo fever" EXACT [Orphanet:99827] synonym: "Congo hemorrhagic fever" EXACT [Orphanet:99827] synonym: "Congo-Crimean hemorrhagic fever" EXACT [DOID:12287, NCIT:C34682] -synonym: "Crimean hemorrhagic fever" EXACT [Orphanet:99827] -synonym: "Crimean hemorrhagic fever [CHF Congo virus]" EXACT [DOID:12287, ICD9CM:065.0] -synonym: "Crimean-Congo haemorrhagic fever" EXACT [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases] +synonym: "Crimean hemorrhagic fever" EXACT [DOID:12287, Orphanet:99827] +synonym: "Crimean hemorrhagic fever [CHF Congo virus]" EXACT [ICD9CM:065.0] +synonym: "Crimean-Congo haemorrhagic fever" EXACT [https://www.who.int/news-room/fact-sheets/detail/vector-borne-diseases, icd11.foundation:1562906700] xref: DOID:12287 {source="MONDO:equivalentTo"} xref: GARD:19690 {source="MONDO:GARD"} xref: ICD10CM:A98.0 {source="MONDO:equivalentTo", source="Orphanet:99827", source="DOID:12287", source="Orphanet:99827/e"} @@ -460909,9 +461001,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99854"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CACH" EXACT ABBREVIATION [OMIM:603896] +synonym: "CACH" EXACT ABBREVIATION [] synonym: "childhood ataxia with central nervous system hypomyelinization" EXACT [OMIM:603896] -synonym: "Cree leukoencephalopathy" RELATED [Orphanet:99854] +synonym: "Cree leukoencephalopathy" RELATED [] synonym: "vanishing white matter leukodystrophy" EXACT [OMIM:603896] xref: DOID:0070374 {source="MONDO:equivalentTo"} xref: GARD:16919 {source="MONDO:GARD"} @@ -460993,27 +461085,27 @@ subset: orphanet_rare {source="Orphanet:99860"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute B cell lymphocytic leukaemia" BROAD OMO:0003005 [] -synonym: "acute B cell lymphocytic leukemia" BROAD [NCIT:C8644] +synonym: "acute B cell lymphocytic leukemia" BROAD [] synonym: "acute B-cell lymphocytic leukaemia" BROAD OMO:0003005 [] -synonym: "acute B-cell lymphocytic leukemia" BROAD [NCIT:C8644] +synonym: "acute B-cell lymphocytic leukemia" BROAD [] synonym: "B acute lymphoblastic leukaemia" BROAD OMO:0003005 [] -synonym: "B acute lymphoblastic leukemia" BROAD [NCIT:C8644] +synonym: "B acute lymphoblastic leukemia" BROAD [] synonym: "B cell acute lymphocytic leukaemia" BROAD OMO:0003005 [] -synonym: "B cell acute lymphocytic leukemia" BROAD [NCIT:C8644] +synonym: "B cell acute lymphocytic leukemia" BROAD [] synonym: "B cell precursor type acute leukaemia" EXACT OMO:0003005 [] synonym: "B cell precursor type acute leukemia" EXACT [NCIT:C8644] -synonym: "B-ALL" BROAD [Orphanet:99860] +synonym: "B-ALL" BROAD [] synonym: "B-cell acute lymphoblastic leukaemia" BROAD OMO:0003005 [] -synonym: "B-cell acute lymphoblastic leukemia" BROAD [NCIT:C8644] +synonym: "B-cell acute lymphoblastic leukemia" BROAD [] synonym: "B-cell acute lymphocytic leukaemia" BROAD OMO:0003005 [] -synonym: "B-cell acute lymphocytic leukemia" BROAD [NCIT:C8644] +synonym: "B-cell acute lymphocytic leukemia" BROAD [] synonym: "B-cell lymphoblastic leukaemia" BROAD OMO:0003005 [] -synonym: "B-cell lymphoblastic leukemia" BROAD [NCIT:C8644] +synonym: "B-cell lymphoblastic leukemia" BROAD [] synonym: "B-cell precursor type acute leukaemia" EXACT OMO:0003005 [] synonym: "B-cell precursor type acute leukemia" EXACT [NCIT:C8644] synonym: "B-cell type acute leukaemia" BROAD OMO:0003005 [] -synonym: "B-cell type acute leukemia" BROAD [NCIT:C8644] -synonym: "B-precursor ALL" EXACT [NCIT:C8644] +synonym: "B-cell type acute leukemia" BROAD [] +synonym: "B-precursor ALL" EXACT [] synonym: "precursor B-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphanet:99860] synonym: "precursor B-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "precursor B-cell acute lymphocytic leukemia" EXACT [Orphanet:99860] @@ -461021,7 +461113,7 @@ synonym: "precursor B-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet: synonym: "precursor B-lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "precursor B-lymphoblastic leukaemia (B-precursor ALL)" EXACT OMO:0003005 [] synonym: "precursor B-lymphoblastic leukemia" EXACT [NCIT:C8644] -synonym: "precursor B-lymphoblastic leukemia (B-precursor ALL)" EXACT [NCIT:C8644] +synonym: "precursor B-lymphoblastic leukemia (B-precursor ALL)" EXACT [] xref: DOID:0080638 {source="MONDO:equivalentTo"} xref: GARD:16920 {source="MONDO:GARD"} xref: ICD10CM:C83.5 {source="Orphanet:99860/ntbt", source="Orphanet:99860"} @@ -461051,7 +461143,7 @@ synonym: "precursor T-cell acute lymphoblastic leukemia/lymphoma" EXACT [Orphane synonym: "precursor T-cell acute lymphocytic leukaemia" EXACT OMO:0003005 [] synonym: "precursor T-cell acute lymphocytic leukemia" EXACT [Orphanet:99861] synonym: "precursor T-cell acute lymphocytic leukemia/lymphoma" EXACT [Orphanet:99861] -synonym: "T-ALL" BROAD [Orphanet:99861] +synonym: "T-ALL" BROAD [] xref: EFO:1001830 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19694 {source="MONDO:GARD"} xref: ICD10CM:C91.0 {source="Orphanet:99861/ntbt", source="Orphanet:99861"} @@ -461070,9 +461162,9 @@ subset: ordo_disorder {source="Orphanet:99865"} subset: orphanet_rare {source="Orphanet:99865"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spermatocytic seminoma" EXACT [NCIT:C39921] -synonym: "spermatocytoma" RELATED [DOID:5834] -synonym: "testicular spermatocytic seminoma" EXACT [MONDO:0004388, NCIT:C39921] +synonym: "spermatocytic seminoma" EXACT [DOID:5834, NCIT:C39921, Orphanet:99865] +synonym: "spermatocytoma" RELATED [] +synonym: "testicular spermatocytic seminoma" EXACT [DOID:7891, MONDO:0004388, NCIT:C39921] xref: DOID:5834 {source="MONDO:equivalentTo"} xref: DOID:7891 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: GARD:16921 {source="MONDO:GARD"} @@ -461109,7 +461201,7 @@ subset: orphanet_rare {source="Orphanet:99869"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "neuroendocrine carcinoma of thymus" EXACT [] -synonym: "thymic neuroendocrine carcinoma" EXACT [] +synonym: "thymic neuroendocrine carcinoma" EXACT [icd11.foundation:381956131, NCIT:C171031, Orphanet:99869] synonym: "thymus neuroendocrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: GARD:19696 {source="MONDO:GARD"} xref: ICD10CM:C37 {source="Orphanet:99869", source="Orphanet:99869/ntbt"} @@ -461132,9 +461224,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "chronic and localised Langerhans cell histiocytosis" EXACT OMO:0003005 [] -synonym: "chronic and localized Langerhans cell histiocytosis" EXACT [Orphanet:99871] +synonym: "chronic and localized Langerhans cell histiocytosis" EXACT [] synonym: "chronic unifocal Langerhans cell histiocytosis" EXACT [NCIT:C3016] -synonym: "eosinophilic granuloma" EXACT [NCIT:C3016] +synonym: "eosinophilic granuloma" EXACT [icd11.foundation:1377407737, NCIT:C3016] synonym: "eosinophilic xanthomatous granuloma" EXACT [NCIT:C3016] synonym: "Monostotic Langerhans cell histiocytosis" EXACT [NCIT:C3016] synonym: "unifocal Langerhans cell histiocytosis" EXACT [NCIT:C3016] @@ -461159,7 +461251,7 @@ name: Hashimoto-Pritzker syndrome def: "Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules)." [Orphanet:99872] subset: gard_rare {source="GARD:2604", source="MONDO:GARD"} subset: rare -synonym: "congenital Langerhans cell histiocytosis" EXACT [Orphanet:99872] +synonym: "congenital Langerhans cell histiocytosis" EXACT [] synonym: "Hashimoto-Pritzker disease" RELATED [GARD:0002604] synonym: "Hashimoto-Pritzker histiocytosis" RELATED [GARD:0002604] xref: GARD:2604 {source="MONDO:GARD"} @@ -461182,11 +461274,11 @@ def: "A multifocal, unisystem form of Langerhans-cell histiocytosis. There is in comment: This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'https://github.com/monarch-initiative/mondo/issues/6754' (MONDO:0005087) ontology branch (https://orcid.org/0000-0001-9310-0163) subset: gard_rare {source="GARD:6567", source="MONDO:GARD"} subset: rare -synonym: "chronic multifocal Langerhans cell histiocytosis" EXACT [Orphanet:99873] +synonym: "chronic multifocal Langerhans cell histiocytosis" EXACT [] synonym: "classic multifocal Langerhans cell histiocytosis" EXACT [NCIT:C6920] synonym: "hand-Schuller-Christian disease" EXACT [NCIT:C6920] -synonym: "hand-SChüller-Christian disease" EXACT [NCIT:C6920, Orphanet:99873] -synonym: "multifocal eosinophilic granuloma" EXACT [Orphanet:99873] +synonym: "hand-SChüller-Christian disease" EXACT [NCIT:C6920] +synonym: "multifocal eosinophilic granuloma" EXACT [] synonym: "multifocal Unisystem Langerhans cell histiocytosis" EXACT [NCIT:C6920] xref: GARD:6567 {source="MONDO:GARD"} xref: ICD10CM:C96.5 {source="Orphanet:99873", source="Orphanet:99873/ntbt"} @@ -461208,7 +461300,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "PLCH" EXACT ABBREVIATION [NCIT:C142833] synonym: "pulmonary eosinophilic granuloma" EXACT [NCIT:C142833] -synonym: "pulmonary histiocytosis X" EXACT [NCIT:C142833, Orphanet:99874] +synonym: "pulmonary histiocytosis X" EXACT [NCIT:C142833] synonym: "pulmonary Langerhans cell histiocytosis" EXACT [NCIT:C142833] xref: ICD10CM:C96.5 {source="Orphanet:99874", source="Orphanet:99874/ntbt"} xref: ICD10CM:J84.82 {source="MONDO:equivalentTo"} @@ -461230,7 +461322,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_etiological_subtype {source="Orphanet:99875"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EDS VIIA" EXACT [Orphanet:99875] +synonym: "EDS VIIA" EXACT [] xref: ICD10CM:Q79.6 {source="Orphanet:99875/attributed", source="Orphanet:99875/ntbt", source="Orphanet:99875"} xref: icd11.foundation:165998215 {source="MONDO:equivalentTo"} xref: MEDGEN:854083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -461244,7 +461336,7 @@ name: Ehlers-Danlos syndrome type 7B subset: gard_rare {source="MONDO:GARD"} subset: ordo_etiological_subtype {source="Orphanet:99876"} subset: rare -synonym: "EDS VIIB" EXACT [GTR:AN1112965, Orphanet:99876] +synonym: "EDS VIIB" EXACT [GTR:AN1112965] synonym: "EDSARTH2" RELATED ABBREVIATION [GTR:AN1112967] synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 2" RELATED [GTR:AN1112503] synonym: "Ehlers-Danlos syndrome, type VIIB, autosomal dominant" RELATED [GTR:AN1112966] @@ -461279,8 +461371,8 @@ intersection_of: has_characteristic MONDO:0021152 ! inherited id: MONDO:0020524 name: obsolete primary parathyroid hyperplasia subset: otar {source="MONDO:OTAR"} -synonym: "familial parathyroids hyperplasia" EXACT [Orphanet:99878] -synonym: "hereditary parathyroids hyperplasia" RELATED [Orphanet:99878] +synonym: "familial parathyroids hyperplasia" EXACT [] +synonym: "hereditary parathyroids hyperplasia" RELATED [] xref: ICD10CM:E21.0 {source="Orphanet:99878/attributed", source="Orphanet:99878/ntbt", source="Orphanet:99878"} xref: Orphanet:99878 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -461301,8 +461393,8 @@ subset: rare synonym: "chromosome 6-associated transient diabetes mellitus" RELATED [GARD:0001839] synonym: "diabetes mellitus, 6q24-related transient neonatal" RELATED [GARD:0001839] synonym: "diabetes mellitus, transient neonatal" RELATED [GARD:0001839] -synonym: "TNDM" EXACT ABBREVIATION [Orphanet:99886] -synonym: "transient neonatal diabetes mellitus" EXACT [MONDO:ambiguous] +synonym: "TNDM" EXACT ABBREVIATION [] +synonym: "transient neonatal diabetes mellitus" EXACT [DOID:0060334, icd11.foundation:1596856936, MONDO:ambiguous, NCIT:C114899] synonym: "transient neonatal diabetes mellitus (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0060334 {source="MONDO:equivalentTo"} xref: HP:0008255 {source="MONDO:otherHierarchy"} @@ -461326,7 +461418,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99887"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DS-AMKL" EXACT [Orphanet:99887] +synonym: "DS-AMKL" EXACT [] xref: GARD:19697 {source="MONDO:GARD"} xref: ICD10CM:C94.2 {source="Orphanet:99887", source="Orphanet:99887/ntbt"} xref: Orphanet:99887 {source="MONDO:equivalentTo"} @@ -461342,10 +461434,10 @@ subset: ordo_disorder {source="Orphanet:99889"} subset: orphanet_rare {source="Orphanet:99889"} subset: rare synonym: "adrenocorticotropic hormone secretion syndrome" EXACT [Orphanet:99889] -synonym: "Cushing syndrome due to ectopic ACTH secretion" EXACT [DOID:0060890] +synonym: "Cushing syndrome due to ectopic ACTH secretion" EXACT [DOID:0060890, Orphanet:99889] synonym: "ectopic ACTH secreting tumor" EXACT [DOID:0060890, Orphanet:99889] synonym: "ectopic ACTH secreting tumour" EXACT OMO:0003005 [] -synonym: "ectopic Cushing syndrome" EXACT [Orphanet:99889] +synonym: "ectopic Cushing syndrome" EXACT [DOID:0060890, icd11.foundation:1646144829, Orphanet:99889] synonym: "occult ectopic ACTH secretion" EXACT [Orphanet:99889] synonym: "paraneoplastic Cushing syndrome" EXACT [Orphanet:99889] xref: DOID:0060890 {source="MONDO:equivalentTo"} @@ -461374,7 +461466,7 @@ synonym: "pituitary Cushing disease" RELATED [MESH:D047748] synonym: "pituitary Cushing diseases" RELATED [MESH:D047748] synonym: "pituitary Cushing syndrome" RELATED [MESH:D047748] synonym: "pituitary-dependent Cushing disease" EXACT [DOID:3946] -synonym: "pituitary-dependent Cushing's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "pituitary-dependent Cushing's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, DOID:3946, ICD10CM:E24.0, MONDO:LexicalVariant] xref: DOID:3946 {source="EFO:1001110", source="MONDO:equivalentTo"} xref: EFO:1001110 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19699 {source="MONDO:GARD"} @@ -461406,9 +461498,9 @@ subset: disease_grouping subset: gard_rare {source="GARD:19700", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:647758"} subset: rare -synonym: "adrenal Cushing syndrome" EXACT [Orphanet:99893] -synonym: "adrenocorticotropic hormone-independent Cushing syndrome" EXACT [Orphanet:99893] -synonym: "corticotropin-independent Cushing syndrome" EXACT [Orphanet:99893] +synonym: "adrenal Cushing syndrome" EXACT [Orphanet:647758] +synonym: "adrenocorticotropic hormone-independent Cushing syndrome" EXACT [] +synonym: "corticotropin-independent Cushing syndrome" EXACT [] xref: GARD:19700 {source="MONDO:GARD"} xref: ICD10CM:E24.8 {source="Orphanet:99893/ntbt", source="Orphanet:99893"} xref: icd11.foundation:652536990 {source="MONDO:equivalentTo"} @@ -461451,9 +461543,9 @@ synonym: "ACADL deficiency" RELATED [GARD:0009700] synonym: "acyl-CoA dehydrogenase, long-chain deficiency" EXACT [NCIT:C84537] synonym: "inborn error of long-chain-acyl-CoA dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn long-chain-acyl-CoA dehydrogenase activity disorder" EXACT [] -synonym: "LCAD" EXACT ABBREVIATION [Orphanet:99900] +synonym: "LCAD" EXACT ABBREVIATION [NCIT:C84537] synonym: "LCAD deficiency" RELATED [GARD:0009700] -synonym: "long chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [] +synonym: "long chain acyl-CoA dehydrogenase deficiency" EXACT CLINGEN_LABEL [icd11.foundation:692829041] synonym: "long-chain acyl-CoA dehydrogenase deficiency" EXACT [NCIT:C84537] synonym: "long-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [NCIT:C84537] synonym: "rare inborn error of long-chain-acyl-CoA dehydrogenase activity" EXACT [MONDO:patterns/inborn_metabolic] @@ -461481,8 +461573,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype {source="Orphanet:99903"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99903"} subset: rare -synonym: "sodoku" EXACT [https://www.britannica.com/science/rat-bite-fever, Orphanet:99903] -synonym: "sodoku disease" EXACT [MONDO:0001432] +synonym: "sodoku" EXACT [https://www.britannica.com/science/rat-bite-fever, icd11.foundation:1104357482, Orphanet:99903] +synonym: "sodoku disease" EXACT [DOID:12096, MONDO:0001432] synonym: "Spirillary fever" EXACT [DOID:12096, ICD9CM:026.0] synonym: "spirillosis" RELATED [DOID:12096] xref: DOID:12096 {source="MONDO:equivalentTo"} @@ -461510,9 +461602,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_etiological_subtype {source="Orphanet:99905"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99905"} subset: rare -synonym: "Haverhill fever" EXACT [DOID:13238] +synonym: "Haverhill fever" EXACT [DOID:13238, icd11.foundation:614000128] synonym: "Streptobacillary fever" EXACT [DOID:13238, ICD9CM:026.1] -synonym: "streptobacillary rat-bite fever" EXACT [DOID:13238] +synonym: "streptobacillary rat-bite fever" EXACT [icd11.foundation:614000128, Orphanet:99905] synonym: "Streptobacillosis" RELATED [DOID:13238] xref: DOID:13238 {source="MONDO:equivalentTo"} xref: GARD:19702 {source="MONDO:GARD"} @@ -461584,11 +461676,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:99912"} subset: orphanet_rare {source="Orphanet:99912"} subset: rare -synonym: "dysgerminomatous germ cell cancer of ovary" EXACT [Orphanet:99912] +synonym: "dysgerminomatous germ cell cancer of ovary" EXACT [] synonym: "dysgerminomatous germ cell cancer of the ovary" EXACT [Orphanet:99912] -synonym: "malignant dysgerminomatous germ cell tumor of the ovary" RELATED [Orphanet:99912] +synonym: "malignant dysgerminomatous germ cell tumor of the ovary" RELATED [] synonym: "malignant dysgerminomatous germ cell tumour of the ovary" RELATED OMO:0003005 [] -synonym: "malignant ovarian dysgerminoma" EXACT [Orphanet:99912] +synonym: "malignant ovarian dysgerminoma" EXACT [] xref: GARD:19705 {source="MONDO:GARD"} xref: ICD10CM:C56 {source="Orphanet:99912", source="Orphanet:99912/ntbt"} xref: icd11.foundation:208782658 {source="https://orcid.org/0000-0002-3458-4839", source="Orphanet:99912"} @@ -461660,13 +461752,13 @@ synonym: "granulosa theca cell tumor of the ovary" RELATED [GARD:0008642] synonym: "granulosa theca cell tumour" RELATED OMO:0003005 [] synonym: "granulosa theca cell tumour of the ovary" RELATED OMO:0003005 [] synonym: "GTCT" RELATED ABBREVIATION [GARD:0008642] -synonym: "Maligant granulosa cell tumor of the ovary" RELATED [Orphanet:99915] +synonym: "Maligant granulosa cell tumor of the ovary" RELATED [] synonym: "Maligant granulosa cell tumour of the ovary" RELATED OMO:0003005 [] synonym: "malignant granulosa cell neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant granulosa cell neoplasm of ovary" EXACT [NCIT:C8403] synonym: "malignant granulosa cell neoplasm of the ovary" EXACT [NCIT:C8403] synonym: "malignant granulosa cell tumor of ovary" EXACT [NCIT:C8403] -synonym: "malignant granulosa cell tumor of the ovary" EXACT [NCIT:C8403] +synonym: "malignant granulosa cell tumor of the ovary" EXACT [NCIT:C8403, Orphanet:99915] synonym: "malignant granulosa cell tumour of ovary" EXACT OMO:0003005 [] synonym: "malignant granulosa cell tumour of the ovary" EXACT OMO:0003005 [] synonym: "malignant ovarian granulosa cell neoplasm" EXACT [NCIT:C8403] @@ -461704,7 +461796,7 @@ synonym: "malignant ovarian Sertoli-Leydig cell tumor" EXACT [] synonym: "malignant ovarian sertoli-Leydig cell tumor" RELATED [] synonym: "malignant ovarian Sertoli-Leydig cell tumour" EXACT OMO:0003005 [] synonym: "malignant ovarian sertoli-Leydig cell tumour" RELATED OMO:0003005 [] -synonym: "malignant Sertoli-Leydig cell tumor of the ovary" RELATED [Orphanet:99916] +synonym: "malignant Sertoli-Leydig cell tumor of the ovary" RELATED [] synonym: "malignant Sertoli-Leydig cell tumour of the ovary" RELATED OMO:0003005 [] synonym: "ovarian malignant Sertoli-Leydig cell tumor" EXACT [Orphanet:99916] synonym: "ovarian malignant Sertoli-Leydig cell tumour" EXACT OMO:0003005 [] @@ -461804,7 +461896,7 @@ synonym: "acute graft vs. host disease" EXACT [MONDO:0005410] synonym: "acute GVHD" RELATED [GARD:0006544] synonym: "fulminant graft versus host disease" EXACT [NCIT:C4980] synonym: "graft versus host disease, acute" EXACT [MONDO:patterns/acute] -synonym: "GVHD, acute" EXACT [NCIT:C4980] +synonym: "GVHD, acute" EXACT [] xref: GARD:6544 {source="MONDO:GARD"} xref: ICD10CM:D89.810 {source="MONDO:equivalentTo"} xref: ICD10CM:T86.0 {source="Orphanet:99920", source="Orphanet:99920/ntbt"} @@ -461837,7 +461929,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chronic GVHD" RELATED [GARD:0010964] synonym: "graft versus host disease, chronic" EXACT [MONDO:patterns/chronic] -synonym: "GVHD, chronic" EXACT [NCIT:C4981] +synonym: "GVHD, chronic" EXACT [] xref: GARD:10964 {source="MONDO:GARD"} xref: ICD10CM:D89.811 {source="MONDO:equivalentTo"} xref: ICD10CM:T86.0 {source="Orphanet:99921/ntbt", source="Orphanet:99921"} @@ -461881,7 +461973,7 @@ synonym: "IHM" RELATED ABBREVIATION [ONCOTREE:IHM] synonym: "invasive gestational trophoblastic neoplasm" EXACT [NCIT:C6985] synonym: "invasive hydatidiform Mole" EXACT [NCIT:C6985] synonym: "invasive hydatidiform mole" EXACT [NCIT:C6985] -synonym: "invasive Mole" EXACT [NCIT:C6985] +synonym: "invasive Mole" EXACT [NCIT:C6985, Orphanet:99925] xref: GARD:19711 {source="MONDO:GARD"} xref: ICD10CM:D39.2 {source="Orphanet:99925", source="Orphanet:99925/ntbt"} xref: ICDO:9100/1 {source="NCIT:C6985"} @@ -461908,8 +462000,8 @@ subset: ordo_disorder {source="Orphanet:99926"} subset: orphanet_rare {source="Orphanet:99926"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "gestational choriocarcinoma" EXACT [NCIT:C4646] -synonym: "gestational choriocarcinoma (morphologic abnormality)" EXACT [DOID:2025] +synonym: "gestational choriocarcinoma" EXACT [DOID:2025, icd11.foundation:2136066651, NCIT:C4646, Orphanet:99926] +synonym: "gestational choriocarcinoma (morphologic abnormality)" EXACT [] synonym: "gestational chorionepithelioma" EXACT [DOID:2025] synonym: "molar pregnancy with choriocarcinoma" EXACT [DOID:2025] xref: DOID:2025 {source="MONDO:equivalentTo"} @@ -461947,8 +462039,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "placental site gestational trophoblastic tumor" EXACT [NCIT:C3757] synonym: "placental site gestational trophoblastic tumour" EXACT OMO:0003005 [] -synonym: "placental site trophoblastic tumor" EXACT [MONDO:0006911] -synonym: "placental site trophoblastic tumor (morphologic abnormality)" EXACT [DOID:3596] +synonym: "placental site trophoblastic tumor" EXACT [DOID:3596, MONDO:0006911, NCIT:C3757, Orphanet:99928] +synonym: "placental site trophoblastic tumor (morphologic abnormality)" EXACT [] synonym: "placental site trophoblastic tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "placental-site gestational trophoblastic neoplasm" EXACT [DOID:3596, NCIT:C3757] synonym: "placental-site gestational trophoblastic tumor" EXACT [NCIT:C3757] @@ -462094,7 +462186,7 @@ subset: orphanet_rare {source="Orphanet:99944"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Charcot-Marie-Tooth disease type 2K" EXACT [NCIT:C133886] -synonym: "CMT2K" EXACT ABBREVIATION [Orphanet:99944] +synonym: "CMT2K" EXACT ABBREVIATION [NCIT:C133886, Orphanet:99944] xref: GARD:9199 {source="MONDO:GARD"} xref: ICD10CM:G60.0 {source="Orphanet:99944/attributed", source="Orphanet:99944/ntbt", source="Orphanet:99944"} xref: MEDGEN:334294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -462132,13 +462224,13 @@ subset: ordo_disorder {source="Orphanet:99966"} subset: orphanet_rare {source="Orphanet:99966"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AT/RT" EXACT [DOID:2129, NCIT:C6906] -synonym: "ATRT" EXACT ABBREVIATION [Orphanet:99966] -synonym: "ATT/RHT" EXACT [NCIT:C6906] -synonym: "atypical teratoid/rhabdoid tumor" EXACT [NCIT:C6906] -synonym: "atypical teratoid/rhabdoid tumor (morphologic abnormality)" EXACT [DOID:2129] +synonym: "AT/RT" EXACT ABBREVIATION [DOID:2129, NCIT:C6906] +synonym: "ATRT" EXACT ABBREVIATION [DOID:2129, NCIT:C6906, Orphanet:99966] +synonym: "ATT/RHT" EXACT [] +synonym: "atypical teratoid/rhabdoid tumor" EXACT [DOID:2129, NCIT:C6906] +synonym: "atypical teratoid/rhabdoid tumor (morphologic abnormality)" EXACT [] synonym: "atypical teratoid/rhabdoid tumor (WHO grade IV)" EXACT [NCIT:C6906] -synonym: "atypical teratoid/rhabdoid tumour" EXACT OMO:0003005 [] +synonym: "atypical teratoid/rhabdoid tumour" EXACT OMO:0003005 [DOID:2129] synonym: "atypical teratoid/rhabdoid tumour (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "atypical teratoid/rhabdoid tumour (WHO grade IV)" EXACT OMO:0003005 [] synonym: "central nervous system rhabdoid neoplasm" EXACT [NCIT:C6906] @@ -462173,11 +462265,11 @@ synonym: "rhabdoid tumor of central nervous system" EXACT [NCIT:C6906] synonym: "rhabdoid tumor of CNS" EXACT [NCIT:C6906] synonym: "rhabdoid tumor of the central nervous system" EXACT [NCIT:C6906] synonym: "rhabdoid tumor of the CNS" EXACT [DOID:2129, NCIT:C6906] -synonym: "rhabdoid tumor predisposition syndrome" RELATED [DOID:2129] +synonym: "rhabdoid tumor predisposition syndrome" RELATED [] synonym: "rhabdoid tumour of central nervous system" EXACT OMO:0003005 [] synonym: "rhabdoid tumour of CNS" EXACT OMO:0003005 [] synonym: "rhabdoid tumour of the central nervous system" EXACT OMO:0003005 [] -synonym: "rhabdoid tumour of the CNS" EXACT OMO:0003005 [] +synonym: "rhabdoid tumour of the CNS" EXACT OMO:0003005 [DOID:2129] synonym: "rhabdoid tumour predisposition syndrome" RELATED OMO:0003005 [] xref: DOID:2129 {source="MONDO:equivalentTo"} xref: EFO:1002008 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -462228,8 +462320,8 @@ subset: ordo_histopathological_subtype {source="Orphanet:99969"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99969"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "pleomorphic liposarcoma" EXACT [DOID:5702, NCIT:C3705] -synonym: "pleomorphic liposarcoma (morphologic abnormality)" EXACT [DOID:5702] +synonym: "pleomorphic liposarcoma" EXACT [DOID:5702, NCIT:C3705, Orphanet:99969] +synonym: "pleomorphic liposarcoma (morphologic abnormality)" EXACT [] synonym: "PLLS" RELATED ABBREVIATION [ONCOTREE:PLLS] synonym: "PLS" EXACT ABBREVIATION [Orphanet:99969] xref: DOID:5702 {source="MONDO:equivalentTo", source="EFO:0003083"} @@ -462260,7 +462352,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DDLPS" EXACT ABBREVIATION [NCIT:C3704] synonym: "DDLS" EXACT ABBREVIATION [ONCOTREE:DDLS, Orphanet:99970] -synonym: "dedifferentiated liposarcoma" EXACT [NCIT:C3704] +synonym: "dedifferentiated liposarcoma" EXACT [DOID:0080531, NCIT:C3704, Orphanet:99970] xref: DOID:0080531 {source="MONDO:equivalentTo"} xref: EFO:0003085 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:19720 {source="MONDO:GARD"} @@ -462377,7 +462469,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99994"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "causalgia" EXACT [MONDO:0006691, Orphanet:99994] +synonym: "causalgia" EXACT [DOID:3222, MONDO:0006691, NCIT:C121572, Orphanet:99994] synonym: "Complex regional pain syndrome II" EXACT [NCIT:C121572] synonym: "Complex regional pain syndrome, type II" EXACT [DOID:3222] synonym: "CRPS II" EXACT [NCIT:C121572] @@ -462434,8 +462526,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "central nervous system nongerminomatous germ cell tumor" EXACT [NCIT:C100093] -synonym: "nongerminomatous GCT - CNS" EXACT [NCIT:C100093] -synonym: "nongerminomatous germ cell tumor of the CNS" EXACT [NCIT:C100093] +synonym: "nongerminomatous GCT - CNS" EXACT [] +synonym: "nongerminomatous germ cell tumor of the CNS" EXACT [] synonym: "nongerminomatous germ cell tumour of the CNS" EXACT OMO:0003005 [] xref: MEDGEN:760465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C100093 {source="MONDO:equivalentTo"} @@ -462450,7 +462542,7 @@ id: MONDO:0020575 name: polymorphic ventricular tachycardia def: "A ventricular tachycardia that is irregular in rate and rhythm." [NCIT:C111648] subset: otar {source="MONDO:OTAR"} -synonym: "polymorphic ventricular tachycardia" EXACT [NCIT:C111648] +synonym: "polymorphic ventricular tachycardia" EXACT [icd11.foundation:16452928, NCIT:C111648] synonym: "ventricular tachycardia, polymorphic" EXACT [] xref: HP:0031677 xref: icd11.foundation:16452928 {source="MONDO:equivalentTo"} @@ -462566,7 +462658,7 @@ name: chromosome 17 disorder def: "Chromosomal disorder in which chromosome 17 is affected." [MONDO:patterns/chromosome_type] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "chromosome 17 abnormality" RELATED [NCIT:C129438] +synonym: "chromosome 17 abnormality" RELATED [] xref: MEDGEN:1380521 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C129438 {source="MONDO:relatedTo"} xref: UMLS:C4329664 {source="MEDGEN:1380521", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -462696,8 +462788,8 @@ comment: Reason: grouping class specific to autosomal disorder. Term to consider synonym: "disease of peritoneum" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of peritoneum" EXACT [] synonym: "disorder of peritoneum" EXACT [MONDO:patterns/location_top] -synonym: "peritoneal disease" EXACT [NCIT:C26848] -synonym: "peritoneal disorder" EXACT [NCIT:C26848] +synonym: "peritoneal disease" EXACT [] +synonym: "peritoneal disorder" EXACT [] synonym: "peritoneum disease" EXACT [] synonym: "peritoneum disease or disorder" EXACT [MONDO:patterns/location] xref: ICD10CM:K65-K68 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -462735,7 +462827,7 @@ def: "A benign hair follicle neoplasm with trichoblastic differentiation. It usu subset: otar {source="MONDO:OTAR"} synonym: "Brooke's tumor" EXACT [NCIT:C27132] synonym: "Brooke's tumour" EXACT OMO:0003005 [] -synonym: "trichoblastoma" EXACT [NCIT:C27132] +synonym: "trichoblastoma" EXACT [icd11.foundation:1414797713, NCIT:C27132] synonym: "trichoepithelioma" EXACT [NCIT:C27132] synonym: "trichoepithelioma, benign" EXACT [NCIT:C27132] synonym: "trichogenic adnexal tumor" EXACT [NCIT:C27132] @@ -462775,8 +462867,8 @@ comment: Reason: grouping class specific to autosomal disorder. Term to consider synonym: "disease of retroperitoneal space" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of retroperitoneal space" EXACT [] synonym: "disorder of retroperitoneal space" EXACT [MONDO:patterns/location_top] -synonym: "retroperitoneal disease" EXACT [NCIT:C27667] -synonym: "retroperitoneal disorder" EXACT [NCIT:C27667] +synonym: "retroperitoneal disease" EXACT [] +synonym: "retroperitoneal disorder" EXACT [] synonym: "retroperitoneal space disease" EXACT [] synonym: "retroperitoneal space disease or disorder" EXACT [MONDO:patterns/location] xref: ICD10CM:K65-K68 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -462803,10 +462895,10 @@ intersection_of: MONDO:0024338 ! mucinous neoplasm id: MONDO:0020597 name: angiokeratoma of scrotum def: "An angiokeratoma that is located on the scrotum." [NCIT:C7752] -synonym: "angiokeratoma of fordyce" BROAD [NCIT:C7752] +synonym: "angiokeratoma of fordyce" BROAD [] synonym: "angiokeratoma of scrotum" EXACT [NCIT:C7752] synonym: "angiokeratoma of the scrotum" EXACT [NCIT:C7752] -synonym: "fordyce angiokeratoma" BROAD [NCIT:C7752] +synonym: "fordyce angiokeratoma" BROAD [] synonym: "fordyce-type angiokeratoma of scrotum" EXACT [NCIT:C7752] synonym: "fordyce-type angiokeratoma of the scrotum" EXACT [NCIT:C7752] synonym: "scrotal angiokeratoma" EXACT [NCIT:C7752] @@ -462825,7 +462917,7 @@ id: MONDO:0020598 name: malabsorption syndrome def: "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea." [NCIT:C3214] subset: otar {source="MONDO:OTAR"} -synonym: "malabsorption" EXACT [NCIT:C3214] +synonym: "malabsorption" EXACT [] synonym: "malabsorption syndrome" EXACT [NCIT:C3214] xref: EFO:0009554 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:44256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -462859,7 +462951,7 @@ id: MONDO:0020600 name: acute pharyngitis def: "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache." [NCIT:C34355] subset: otar {source="MONDO:OTAR"} -synonym: "acute pharyngitis" EXACT [NCIT:C34355] +synonym: "acute pharyngitis" EXACT [icd11.foundation:1791890273, NCIT:C34355] synonym: "pharyngitis, acute" EXACT [MONDO:patterns/acute] xref: EFO:0009657 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1791890273 {source="MONDO:equivalentTo"} @@ -462893,18 +462985,18 @@ def: "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "bulldog syndrome" EXACT [DOID:0060248] +synonym: "bulldog syndrome" EXACT [DOID:0060248, OMIM:312870] synonym: "DGSX Golabi-Rosen syndrome" EXACT [DOID:0060248] -synonym: "dysplasia gigantism syndrome, X-linked" RELATED [OMIM:312870] -synonym: "Golabi-Rosen syndrome" RELATED [OMIM:312870] +synonym: "dysplasia gigantism syndrome, X-linked" RELATED [] +synonym: "Golabi-Rosen syndrome" RELATED [] synonym: "GPC3 Simpson-Golabi-Behmel syndrome" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "Sgbs" RELATED [OMIM:312870] -synonym: "SGBS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:312870, Orphanet:373] -synonym: "Simpson dysmorphia syndrome" EXACT [DOID:0060248, OMIM:312870, Orphanet:373] +synonym: "Sgbs" RELATED [] +synonym: "SGBS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:312870] +synonym: "Simpson dysmorphia syndrome" EXACT [DOID:0060248, OMIM:312870] synonym: "Simpson-Golabi-Behmel syndrome caused by mutation in GPC3" EXACT [] -synonym: "Simpson-Golabi-Behmel syndrome type 1" EXACT [Orphanet:373] -synonym: "Simpson-Golabi-Behmel syndrome, type 1" RELATED [MONDO:Lexical, OMIM:312870] -synonym: "Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive" EXACT [OMIM:312870, OMIM:genemap2] +synonym: "Simpson-Golabi-Behmel syndrome type 1" EXACT [DOID:0060248] +synonym: "Simpson-Golabi-Behmel syndrome, type 1" RELATED [MONDO:Lexical] +synonym: "Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive" EXACT [] xref: DOID:0060248 {source="MONDO:equivalentTo"} xref: MEDGEN:162917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:312870 {source="MONDO:equivalentTo"} @@ -462929,15 +463021,15 @@ synonym: "CDPXD" EXACT ABBREVIATION [GARD:0006189, OMIM:302960, Orphanet:35173] synonym: "chondrodysplasia punctata 2 X-linked dominant" EXACT [GARD:0006189] synonym: "chondrodysplasia punctata 2, X-linked dominant" EXACT CLINGEN_LABEL [MONDO:0026782, MONDO:Lexical, OMIM:302960] synonym: "chondrodysplasia punctata caused by mutation in EBP" EXACT [] -synonym: "chondrodysplasia punctata, X-linked dominant, X-linked dominant" EXACT [OMIM:302960, OMIM:genemap2] +synonym: "chondrodysplasia punctata, X-linked dominant, X-linked dominant" EXACT [] synonym: "Conrad Hunermann Happle syndrome" EXACT [GARD:0006189] synonym: "Conradi Hunermann syndrome" EXACT [GARD:0006189] synonym: "Conradi Hünermann Syndrome" EXACT [NORD:1005] -synonym: "Conradi-Hunermann syndrome" EXACT [OMIM:302960] +synonym: "Conradi-Hunermann syndrome" EXACT [DOID:0080352, OMIM:302960] synonym: "Conradi-Hunermann-Happle syndrome" EXACT [OMIM:302960] synonym: "Conradi-Hünermann-Happle syndrome" EXACT [Orphanet:35173] synonym: "EBP chondrodysplasia punctata" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "Happle syndrome" EXACT [GARD:0006189, OMIM:302960] +synonym: "Happle syndrome" EXACT [DOID:0080352, GARD:0006189, OMIM:302960] synonym: "X-linked chondrodysplasia punctata type 2" EXACT [Orphanet:35173] xref: DOID:0080352 {source="MONDO:equivalentTo"} xref: GARD:6189 {source="MONDO:GARD"} @@ -463007,11 +463099,11 @@ name: Liddle syndrome 1 def: "Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Liddle syndrome" RELATED [OMIM:177200] +synonym: "Liddle syndrome" RELATED [] synonym: "Liddle syndrome 1" EXACT [OMIM:177200] synonym: "Liddle syndrome caused by mutation in SCNN1B" EXACT [] -synonym: "LIDLS1" RELATED ABBREVIATION [OMIM:177200] -synonym: "Pseudoaldosteronism" RELATED [OMIM:177200] +synonym: "LIDLS1" RELATED ABBREVIATION [] +synonym: "Pseudoaldosteronism" RELATED [] synonym: "SCNN1B Liddle syndrome" EXACT [MONDO:patterns/disease_series_by_gene] xref: OMIM:177200 {source="MONDO:equivalentTo"} xref: Orphanet:526 {source="OMIM:177200"} @@ -463024,20 +463116,20 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0020608 name: obsolete blood group--ahonen comment: Obsoleted as it represents a trait -synonym: "AN" RELATED ABBREVIATION [OMIM:110350] -synonym: "BLOOD GROUP--AHONEN" RELATED [OMIM:110350] +synonym: "AN" RELATED ABBREVIATION [] +synonym: "BLOOD GROUP--AHONEN" RELATED [] xref: OMIM:110350 {source="MONDO:obsoleteEquivalent"} is_obsolete: true [Term] id: MONDO:0020609 name: obsolete blood group, colton system -synonym: "aquaporin-1 deficiency" EXACT [OMIM:110450, OMIM:genemap2] -synonym: "blood group, Colton" EXACT [OMIM:110450, OMIM:genemap2] -synonym: "BLOOD GROUP, COLTON SYSTEM" RELATED [OMIM:110450] -synonym: "CO" RELATED ABBREVIATION [OMIM:110450] -synonym: "Colton Blood Group System" RELATED [OMIM:110450] -synonym: "Colton-Null Phenotype" RELATED [OMIM:110450] +synonym: "aquaporin-1 deficiency" EXACT [] +synonym: "blood group, Colton" EXACT [] +synonym: "BLOOD GROUP, COLTON SYSTEM" RELATED [] +synonym: "CO" RELATED ABBREVIATION [] +synonym: "Colton Blood Group System" RELATED [] +synonym: "Colton-Null Phenotype" RELATED [] xref: OMIM:110450 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463045,10 +463137,10 @@ is_obsolete: true [Term] id: MONDO:0020610 name: obsolete blood group, diego system -synonym: "blood group, Diego" EXACT [OMIM:110500, OMIM:genemap2] -synonym: "BLOOD GROUP, DIEGO SYSTEM" RELATED [OMIM:110500] -synonym: "DI" RELATED ABBREVIATION [OMIM:110500] -synonym: "Diego Blood Group System" RELATED [OMIM:110500] +synonym: "blood group, Diego" EXACT [] +synonym: "BLOOD GROUP, DIEGO SYSTEM" RELATED [] +synonym: "DI" RELATED ABBREVIATION [] +synonym: "Diego Blood Group System" RELATED [] xref: OMIM:110500 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463056,13 +463148,13 @@ is_obsolete: true [Term] id: MONDO:0020611 name: obsolete blood group--kell system -synonym: "blood group, Kell" EXACT [OMIM:110900, OMIM:genemap2] -synonym: "BLOOD GROUP--KELL SYSTEM" RELATED [OMIM:110900] -synonym: "Blood Group--Kell-Cellano System" RELATED [OMIM:110900] -synonym: "K(0)" RELATED [OMIM:110900] -synonym: "KEL" RELATED ABBREVIATION [OMIM:110900] -synonym: "Kell-Null" RELATED [OMIM:110900] -synonym: "Ko" RELATED [OMIM:110900] +synonym: "blood group, Kell" EXACT [] +synonym: "BLOOD GROUP--KELL SYSTEM" RELATED [] +synonym: "Blood Group--Kell-Cellano System" RELATED [] +synonym: "K(0)" RELATED [] +synonym: "KEL" RELATED ABBREVIATION [] +synonym: "Kell-Null" RELATED [] +synonym: "Ko" RELATED [] xref: OMIM:110900 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463070,10 +463162,10 @@ is_obsolete: true [Term] id: MONDO:0020612 name: obsolete blood group, kidd system -synonym: "blood group, Kidd" EXACT [OMIM:111000, OMIM:genemap2] -synonym: "BLOOD GROUP, KIDD SYSTEM" RELATED [OMIM:111000] -synonym: "JK" RELATED ABBREVIATION [OMIM:111000] -synonym: "Kidd Blood Group System" RELATED [OMIM:111000] +synonym: "blood group, Kidd" EXACT [] +synonym: "BLOOD GROUP, KIDD SYSTEM" RELATED [] +synonym: "JK" RELATED ABBREVIATION [] +synonym: "Kidd Blood Group System" RELATED [] xref: OMIM:111000 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463081,21 +463173,21 @@ is_obsolete: true [Term] id: MONDO:0020613 name: obsolete blood group--lke -synonym: "BLOOD GROUP--LKE" RELATED [OMIM:111130] -synonym: "Blood Group--Luke" RELATED [OMIM:111130] -synonym: "Blood Group--Luke, Formerly" RELATED [OMIM:111130] -synonym: "LKE" RELATED ABBREVIATION [OMIM:111130] +synonym: "BLOOD GROUP--LKE" RELATED [] +synonym: "Blood Group--Luke" RELATED [] +synonym: "Blood Group--Luke, Formerly" RELATED [] +synonym: "LKE" RELATED ABBREVIATION [] xref: OMIM:111130 {source="MONDO:obsoleteEquivalent"} is_obsolete: true [Term] id: MONDO:0020614 name: obsolete blood group--lutheran system -synonym: "Auberger System" RELATED [OMIM:111200] -synonym: "blood group, Auberger system" EXACT [OMIM:111200, OMIM:genemap2] -synonym: "blood group, Lutheran system" EXACT [OMIM:111200, OMIM:genemap2] -synonym: "BLOOD GROUP--LUTHERAN SYSTEM" RELATED [OMIM:111200] -synonym: "LU" RELATED ABBREVIATION [OMIM:111200] +synonym: "Auberger System" RELATED [] +synonym: "blood group, Auberger system" EXACT [] +synonym: "blood group, Lutheran system" EXACT [] +synonym: "BLOOD GROUP--LUTHERAN SYSTEM" RELATED [] +synonym: "LU" RELATED ABBREVIATION [] xref: OMIM:111200 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463103,10 +463195,10 @@ is_obsolete: true [Term] id: MONDO:0020615 name: obsolete blood group system, landsteiner-wiener -synonym: "BLOOD GROUP SYSTEM, LANDSTEINER-WIENER" RELATED [OMIM:111250] -synonym: "blood group, Landsteiner-Wiener" EXACT [OMIM:111250, OMIM:genemap2] -synonym: "Landsteiner-Wiener Blood Group System" RELATED [OMIM:111250] -synonym: "LW" RELATED ABBREVIATION [OMIM:111250] +synonym: "BLOOD GROUP SYSTEM, LANDSTEINER-WIENER" RELATED [] +synonym: "blood group, Landsteiner-Wiener" EXACT [] +synonym: "Landsteiner-Wiener Blood Group System" RELATED [] +synonym: "LW" RELATED ABBREVIATION [] xref: OMIM:111250 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463114,13 +463206,13 @@ is_obsolete: true [Term] id: MONDO:0020616 name: obsolete blood group, mn -synonym: "BLOOD GROUP, MN" RELATED [OMIM:111300] -synonym: "Blood Group, Mnss System" RELATED [OMIM:111300] -synonym: "blood group, MNSs system" EXACT [OMIM:111300, OMIM:genemap2] -synonym: "MN" RELATED ABBREVIATION [OMIM:111300] -synonym: "Mn Blood Group" RELATED [OMIM:111300] -synonym: "Mns Blood Group Systed" RELATED [OMIM:111300] -synonym: "Mnss Blood Group System" RELATED [OMIM:111300] +synonym: "BLOOD GROUP, MN" RELATED [] +synonym: "Blood Group, Mnss System" RELATED [] +synonym: "blood group, MNSs system" EXACT [] +synonym: "MN" RELATED ABBREVIATION [] +synonym: "Mn Blood Group" RELATED [] +synonym: "Mns Blood Group Systed" RELATED [] +synonym: "Mnss Blood Group System" RELATED [] xref: OMIM:111300 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463128,9 +463220,9 @@ is_obsolete: true [Term] id: MONDO:0020617 name: obsolete blood group--ok -synonym: "blood group, OK" EXACT [OMIM:111380, OMIM:genemap2] -synonym: "BLOOD GROUP--OK" RELATED [OMIM:111380] -synonym: "OK" RELATED ABBREVIATION [OMIM:111380] +synonym: "blood group, OK" EXACT [] +synonym: "BLOOD GROUP--OK" RELATED [] +synonym: "OK" RELATED ABBREVIATION [] xref: OMIM:111380 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463138,17 +463230,17 @@ is_obsolete: true [Term] id: MONDO:0020618 name: obsolete blood group--private systems -synonym: "antigenic Determinants of Low Frequency in the Population" RELATED [OMIM:111500] -synonym: "BLOOD GROUP--PRIVATE SYSTEMS" RELATED [OMIM:111500] +synonym: "antigenic Determinants of Low Frequency in the Population" RELATED [] +synonym: "BLOOD GROUP--PRIVATE SYSTEMS" RELATED [] xref: OMIM:111500 {source="MONDO:obsoleteEquivalent"} is_obsolete: true [Term] id: MONDO:0020619 name: obsolete blood group, langereis system -synonym: "BLOOD GROUP, LANGEREIS SYSTEM" RELATED [OMIM:111600] -synonym: "blood group, Langereis system" EXACT [OMIM:111600, OMIM:genemap2] -synonym: "LAN" RELATED ABBREVIATION [OMIM:111600] +synonym: "BLOOD GROUP, LANGEREIS SYSTEM" RELATED [] +synonym: "blood group, Langereis system" EXACT [] +synonym: "LAN" RELATED ABBREVIATION [] xref: OMIM:111600 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463156,10 +463248,10 @@ is_obsolete: true [Term] id: MONDO:0020620 name: obsolete blood group, ss -synonym: "BLOOD GROUP, Ss" RELATED [OMIM:111740] -synonym: "blood group, Ss" EXACT [OMIM:111740, OMIM:genemap2] -synonym: "Ss" RELATED [OMIM:111740] -synonym: "Ss Blood Group" RELATED [OMIM:111740] +synonym: "BLOOD GROUP, Ss" RELATED [] +synonym: "blood group, Ss" EXACT [] +synonym: "Ss" RELATED [] +synonym: "Ss Blood Group" RELATED [] xref: OMIM:111740 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463167,10 +463259,10 @@ is_obsolete: true [Term] id: MONDO:0020621 name: obsolete blood group--scianna system -synonym: "blood group, Scianna system" EXACT [OMIM:111750, OMIM:genemap2] -synonym: "BLOOD GROUP--SCIANNA SYSTEM" RELATED [OMIM:111750] -synonym: "SC" RELATED ABBREVIATION [OMIM:111750] -synonym: "Scianna Blood Group" RELATED [OMIM:111750] +synonym: "blood group, Scianna system" EXACT [] +synonym: "BLOOD GROUP--SCIANNA SYSTEM" RELATED [] +synonym: "SC" RELATED ABBREVIATION [] +synonym: "Scianna Blood Group" RELATED [] xref: OMIM:111750 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463178,9 +463270,9 @@ is_obsolete: true [Term] id: MONDO:0020622 name: obsolete blood group--stoltzfus system -synonym: "blood group, Stoltzfus system" EXACT [OMIM:111800, OMIM:genemap2] -synonym: "BLOOD GROUP--STOLTZFUS SYSTEM" RELATED [OMIM:111800] -synonym: "Sf" RELATED [OMIM:111800] +synonym: "blood group, Stoltzfus system" EXACT [] +synonym: "BLOOD GROUP--STOLTZFUS SYSTEM" RELATED [] +synonym: "Sf" RELATED [] xref: OMIM:111800 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463188,18 +463280,18 @@ is_obsolete: true [Term] id: MONDO:0020623 name: obsolete blood group--ul system -synonym: "BLOOD GROUP--Ul SYSTEM" RELATED [OMIM:112000] -synonym: "UL" RELATED ABBREVIATION [OMIM:112000] +synonym: "BLOOD GROUP--Ul SYSTEM" RELATED [] +synonym: "UL" RELATED ABBREVIATION [] xref: OMIM:112000 {source="MONDO:obsoleteEquivalent"} is_obsolete: true [Term] id: MONDO:0020624 name: obsolete blood group--waldner type -synonym: "blood group, Waldner" EXACT [OMIM:112010, OMIM:genemap2] -synonym: "BLOOD GROUP--WALDNER TYPE" RELATED [OMIM:112010] -synonym: "Waldner Blood Group Antigen" RELATED [OMIM:112010] -synonym: "WD" RELATED ABBREVIATION [OMIM:112010] +synonym: "blood group, Waldner" EXACT [] +synonym: "BLOOD GROUP--WALDNER TYPE" RELATED [] +synonym: "Waldner Blood Group Antigen" RELATED [] +synonym: "WD" RELATED ABBREVIATION [] xref: OMIM:112010 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463207,10 +463299,10 @@ is_obsolete: true [Term] id: MONDO:0020625 name: obsolete blood group--wright antigen -synonym: "blood group, Wright" EXACT [OMIM:112050, OMIM:genemap2] -synonym: "BLOOD GROUP--WRIGHT ANTIGEN" RELATED [OMIM:112050] -synonym: "WR" RELATED ABBREVIATION [OMIM:112050] -synonym: "Wright Blood Group Antigen" RELATED [OMIM:112050] +synonym: "blood group, Wright" EXACT [] +synonym: "BLOOD GROUP--WRIGHT ANTIGEN" RELATED [] +synonym: "WR" RELATED ABBREVIATION [] +synonym: "Wright Blood Group Antigen" RELATED [] xref: OMIM:112050 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463218,9 +463310,9 @@ is_obsolete: true [Term] id: MONDO:0020626 name: obsolete yt blood group antigen -synonym: "blood group, Yt system" EXACT [OMIM:112100, OMIM:genemap2] -synonym: "Cartwright Antigen" RELATED [OMIM:112100] -synonym: "YT BLOOD GROUP ANTIGEN" RELATED [OMIM:112100] +synonym: "blood group, Yt system" EXACT [] +synonym: "Cartwright Antigen" RELATED [] +synonym: "YT BLOOD GROUP ANTIGEN" RELATED [] xref: OMIM:112100 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -463246,7 +463338,7 @@ subset: gard_rare {source="GARD:18507", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MGRISCE2" RELATED ABBREVIATION [OMIM:618097] +synonym: "MGRISCE2" RELATED ABBREVIATION [] synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 2" EXACT [OMIM:618097] xref: GARD:18507 {source="MONDO:GARD"} xref: MEDGEN:1648384 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -463279,9 +463371,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DEE91" EXACT ABBREVIATION [OMIM:617711] -synonym: "developmental and epileptic encephalopathy 91" EXACT [OMIM:617711, OMIM:genemap2] +synonym: "developmental and epileptic encephalopathy 91" EXACT [DOID:0080472, OMIM:617711] synonym: "epileptic encephalopathy, infantile or early childhood, 1" EXACT [OMIM:617711] -synonym: "IECEE1" RELATED ABBREVIATION [OMIM:617711] +synonym: "IECEE1" RELATED ABBREVIATION [] xref: DOID:0080472 {source="MONDO:equivalentTo"} xref: MEDGEN:1626137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617711 {source="MONDO:equivalentTo"} @@ -463298,9 +463390,9 @@ subset: gard_rare {source="GARD:16258", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DEE92" EXACT ABBREVIATION [OMIM:617829] -synonym: "developmental and epileptic encephalopathy 92" EXACT [OMIM:617829, OMIM:genemap2] +synonym: "developmental and epileptic encephalopathy 92" EXACT [DOID:0080471, OMIM:617829] synonym: "epileptic encephalopathy, infantile or early childhood, 2" EXACT [OMIM:617829] -synonym: "IECEE2" EXACT ABBREVIATION [OMIM:617829] +synonym: "IECEE2" EXACT ABBREVIATION [] xref: DOID:0080471 {source="MONDO:equivalentTo"} xref: GARD:16258 {source="MONDO:GARD"} xref: MEDGEN:1638319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -463318,10 +463410,10 @@ name: developmental and epileptic encephalopathy 93 subset: gard_rare {source="GARD:16285", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE93" EXACT ABBREVIATION [OMIM:618012] -synonym: "developmental and epileptic encephalopathy 93" EXACT [OMIM:618012, OMIM:genemap2] -synonym: "epileptic encephalopathy, infantile or early childhood, 3" EXACT [OMIM:618012] -synonym: "IECEE3" EXACT ABBREVIATION [OMIM:618012] +synonym: "DEE93" EXACT ABBREVIATION [DOID:0112275, OMIM:618012] +synonym: "developmental and epileptic encephalopathy 93" EXACT [DOID:0112275, OMIM:618012] +synonym: "epileptic encephalopathy, infantile or early childhood, 3" EXACT [] +synonym: "IECEE3" EXACT ABBREVIATION [DOID:0112275] xref: DOID:0112275 {source="MONDO:equivalentTo"} xref: GARD:16285 {source="MONDO:GARD"} xref: MEDGEN:1642888 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -463372,8 +463464,8 @@ subset: rare synonym: "anaplastic (malignant) meningioma" EXACT [NCIT:C4051] synonym: "anaplastic meningioma" EXACT [NCIT:C4051] synonym: "malignant meningioma" EXACT [NCIT:C4051] -synonym: "meningioma, anaplastic, malignant" EXACT [NCIT:C4051] -synonym: "meningioma, malignant" RELATED [NCIT:C4051] +synonym: "meningioma, anaplastic, malignant" EXACT [] +synonym: "meningioma, malignant" RELATED [] xref: ICDO:9530/3 {source="NCIT:C4051"} xref: MEDGEN:75478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4051 {source="MONDO:equivalentTo", source="ONCOTREE:ANM"} @@ -463408,16 +463500,16 @@ id: MONDO:0020638 name: superficial spreading melanoma def: "A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi." [NCIT:C9152] subset: otar {source="MONDO:OTAR"} -synonym: "cutaneous superficial spreading melanoma" EXACT [NCIT:C9152] -synonym: "pagetoid melanoma" EXACT [NCIT:C9152] -synonym: "SSM" EXACT ABBREVIATION [NCIT:C9152] -synonym: "superficial spreading cutaneous (skin) melanoma" EXACT [NCIT:C9152] -synonym: "superficial spreading malignant melanoma of skin" EXACT [NCIT:C9152] -synonym: "superficial spreading malignant melanoma of the skin" EXACT [NCIT:C9152] -synonym: "superficial spreading malignant skin melanoma" EXACT [NCIT:C9152] -synonym: "superficial spreading melanoma" EXACT [NCIT:C9152] -synonym: "superficial spreading melanoma of skin" EXACT [NCIT:C9152] -synonym: "superficial spreading melanoma of the skin" EXACT [NCIT:C9152] +synonym: "cutaneous superficial spreading melanoma" EXACT [] +synonym: "pagetoid melanoma" EXACT [] +synonym: "SSM" EXACT ABBREVIATION [] +synonym: "superficial spreading cutaneous (skin) melanoma" EXACT [] +synonym: "superficial spreading malignant melanoma of skin" EXACT [] +synonym: "superficial spreading malignant melanoma of the skin" EXACT [] +synonym: "superficial spreading malignant skin melanoma" EXACT [] +synonym: "superficial spreading melanoma" EXACT [] +synonym: "superficial spreading melanoma of skin" EXACT [] +synonym: "superficial spreading melanoma of the skin" EXACT [] xref: icd11.foundation:208661037 {source="MONDO:equivalentTo"} xref: ICDO:8743/3 {source="NCIT:C9152"} xref: MEDGEN:87242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -463450,7 +463542,7 @@ subset: gard_rare {source="GARD:11979", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:622014"} subset: rare -synonym: "autoimmune encephalitis" EXACT [NCIT:C122414] +synonym: "autoimmune encephalitis" EXACT [icd11.foundation:241281019, NCIT:C122414, Orphanet:622014] xref: GARD:11979 {source="MONDO:GARD"} xref: icd11.foundation:241281019 {source="MONDO:equivalentTo"} xref: MEDGEN:1804547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -463470,18 +463562,18 @@ id: MONDO:0020641 name: respiratory tract neoplasm def: "A benign or malignant, primary or metastatic neoplasm involving the respiratory tract." [NCIT:C3355] subset: otar {source="MONDO:OTAR"} -synonym: "neoplasm of respiratory tract" EXACT [MONDO:patterns/neoplasm, NCIT:C3355] -synonym: "neoplasm of the respiratory tract" EXACT [NCIT:C3355] +synonym: "neoplasm of respiratory tract" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of the respiratory tract" EXACT [] synonym: "neoplasm, respiratory tract" EXACT [MESH:D012142] synonym: "neoplasms, respiratory tract" EXACT [MESH:D012142] -synonym: "respiratory system neoplasm" EXACT [EFO:0003853] +synonym: "respiratory system neoplasm" EXACT [EFO:0003853, NCIT:C3355] synonym: "respiratory tract neoplasm" EXACT [MESH:D012142, NCIT:C3355] -synonym: "respiratory tract tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3355] +synonym: "respiratory tract tumor" EXACT [MONDO:patterns/neoplasm] synonym: "respiratory tract tumour" EXACT OMO:0003005 [] synonym: "tract neoplasm, respiratory" EXACT [MESH:D012142] synonym: "tract neoplasms, respiratory" EXACT [MESH:D012142] -synonym: "tumor of respiratory tract" EXACT [MONDO:patterns/neoplasm, NCIT:C3355] -synonym: "tumor of the respiratory tract" EXACT [NCIT:C3355] +synonym: "tumor of respiratory tract" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of the respiratory tract" EXACT [] synonym: "tumour of respiratory tract" EXACT OMO:0003005 [] synonym: "tumour of the respiratory tract" EXACT OMO:0003005 [] xref: EFO:0003853 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -463505,7 +463597,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "fibrocystic renal disease" EXACT [NCIT:C75464] synonym: "PKD - polycystic kidney disease" EXACT [NCIT:C75464] -synonym: "polycystic kidney disease" EXACT [NCIT:C75464, OMIMPS:173900] +synonym: "polycystic kidney disease" EXACT [DOID:0080322, NCIT:C75464, OMIMPS:173900] xref: DOID:0080322 {source="MONDO:equivalentTo"} xref: EFO:0008620 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7419 {source="MONDO:GARD"} @@ -463718,7 +463810,7 @@ synonym: "transitional cell cancer of the renal pelvis and ureter" EXACT [NCIT:C synonym: "transitional cell carcinoma of renal pelvis and ureter" EXACT [NCIT:C7716] synonym: "transitional cell carcinoma of the pelvis and ureter" EXACT [Orphanet:598216] synonym: "transitional cell carcinoma of the upper urinary tract" EXACT [Orphanet:598216] -synonym: "upper tract urothelial carcinoma" EXACT [MONDO:0020659] +synonym: "upper tract urothelial carcinoma" EXACT [MONDO:0020659, Orphanet:598216] synonym: "urothelial carcinoma of the renal pelvis and ureter" EXACT [NCIT:C7716] synonym: "UTUC" EXACT ABBREVIATION [Orphanet:598216] xref: NCIT:C7716 {source="MONDO:equivalentTo", source="ONCOTREE:UTUC"} @@ -463940,11 +464032,11 @@ subset: gard_rare {source="GARD:22389", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:596008"} subset: rare -synonym: "ABS2" RELATED ABBREVIATION [OMIM:207410] +synonym: "ABS2" RELATED ABBREVIATION [] synonym: "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" EXACT [OMIM:207410] -synonym: "multisynostotic osteodysgenesis with long bone fractures" RELATED [OMIM:207410] -synonym: "osteodysgenesis, multisynostotic, with fractures" RELATED [OMIM:207410] -synonym: "trapezoidocephaly-synostosis Syndrome" RELATED [OMIM:207410] +synonym: "multisynostotic osteodysgenesis with long bone fractures" RELATED [] +synonym: "osteodysgenesis, multisynostotic, with fractures" RELATED [] +synonym: "trapezoidocephaly-synostosis Syndrome" RELATED [] xref: DOID:0081290 {source="MONDO:equivalentTo"} xref: GARD:22389 {source="MONDO:GARD"} xref: MEDGEN:422448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -463960,7 +464052,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0020668 name: obsolete spastic paraplegia 5B -synonym: "moved to 270800" RELATED [OMIM:600146] +synonym: "moved to 270800" RELATED [] synonym: "SPG5B" RELATED ABBREVIATION [GARD:0004917] xref: OMIM:600146 {source="GARD:0004917", source="MONDO:obsoleteEquivalentObsolete"} is_obsolete: true @@ -464017,13 +464109,13 @@ id: MONDO:0020671 name: obsolete susceptibility to ischemic stroke comment: Phenotype and not a disease. subset: predisposition -synonym: "cerebral infarction" RELATED [OMIM:601367] -synonym: "cerebral infarction, susceptibility to" EXACT [OMIM:601367, OMIM:genemap2] -synonym: "cerebrovascular accident" RELATED [OMIM:601367] -synonym: "ischemic stroke, susceptibility to" EXACT [OMIM:601367, OMIM:genemap2] -synonym: "stroke, ischemic" RELATED [OMIM:601367] -synonym: "stroke, ischemic, susceptibility to" EXACT [OMIM:601367, OMIM:genemap2] -synonym: "stroke, susceptibility to" EXACT [OMIM:601367, OMIM:genemap2] +synonym: "cerebral infarction" RELATED [] +synonym: "cerebral infarction, susceptibility to" EXACT [] +synonym: "cerebrovascular accident" RELATED [] +synonym: "ischemic stroke, susceptibility to" EXACT [] +synonym: "stroke, ischemic" RELATED [] +synonym: "stroke, ischemic, susceptibility to" EXACT [] +synonym: "stroke, susceptibility to" EXACT [] xref: OMIM:601367 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 IAO:0000423 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2804" xsd:anyURI @@ -464107,8 +464199,8 @@ name: sensorineural hearing loss disorder def: "Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII)." [Wikipedia:Sensorineural_hearing_loss] subset: otar {source="MONDO:OTAR"} synonym: "neurosensory deafness" RELATED [] -synonym: "sensorineural deafness" EXACT [NCIT:C26739] -synonym: "sensorineural hearing loss" EXACT [NCIT:C26739] +synonym: "sensorineural deafness" EXACT [DOID:10003, NCIT:C26739] +synonym: "sensorineural hearing loss" EXACT [DOID:10003, NCIT:C26739] synonym: "sensorineural hearing loss disorder" EXACT CLINGEN_LABEL [] synonym: "SNHL" EXACT ABBREVIATION [NCIT:C26739, Wikipedia:Sensorineural_hearing_loss] xref: DOID:10003 {source="MONDO:equivalentTo"} @@ -464140,8 +464232,8 @@ intersection_of: disease_has_basis_in_dysfunction_of UBERON:0001756 ! middle ear id: MONDO:0020680 name: acute bronchiolitis def: "Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus." [NCIT:C39659] -synonym: "acute Bronchiolitis" RELATED [NCIT:C39659] -synonym: "acute bronchiolitis" EXACT [NCIT:C39659, UMLS:C0001311] +synonym: "acute Bronchiolitis" RELATED [] +synonym: "acute bronchiolitis" EXACT [icd11.foundation:1310075986, NCIT:C39659, UMLS:C0001311] synonym: "acute capillary bronchiolitis" RELATED [UMLS:C0001311] synonym: "Capillary pneumonia" RELATED [UMLS:C0001311] synonym: "capillary pneumonia" RELATED [] @@ -464163,15 +464255,15 @@ name: Ehlers-Danlos syndrome, musculocontractural type 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome" RELATED [OMIM:601776] -synonym: "adducted thumb-clubfoot syndrome" RELATED [OMIM:601776] -synonym: "Arthrogryposis, Distal, with peculiar facies and hydronephrosis" RELATED [OMIM:601776] -synonym: "Dundar syndrome" RELATED [OMIM:601776] -synonym: "EDSMC" RELATED ABBREVIATION [OMIM:601776] -synonym: "EDSMC1" RELATED ABBREVIATION [OMIM:601776] -synonym: "Ehlers-Danlos syndrome, musculocontractural type, 1" RELATED [OMIM:601776] -synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [OMIM:601776] -synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:601776] +synonym: "adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome" RELATED [] +synonym: "adducted thumb-clubfoot syndrome" RELATED [] +synonym: "Arthrogryposis, Distal, with peculiar facies and hydronephrosis" RELATED [] +synonym: "Dundar syndrome" RELATED [] +synonym: "EDSMC" RELATED ABBREVIATION [] +synonym: "EDSMC1" RELATED ABBREVIATION [] +synonym: "Ehlers-Danlos syndrome, musculocontractural type, 1" RELATED [] +synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [] +synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [] xref: DOID:0080736 {source="MONDO:equivalentTo"} xref: NCIT:C168975 {source="MONDO:equivalentTo"} xref: OMIM:601776 {source="MONDO:equivalentTo"} @@ -464194,8 +464286,8 @@ synonym: "dermatan sulphate proteoglycan" EXACT OMO:0003005 [] synonym: "EDSSPD1" EXACT ABBREVIATION [OMIM:130070] synonym: "Ehlers-Danlos syndrome with Short stature and Limb anomalies" EXACT [OMIM:130070] synonym: "Ehlers-Danlos syndrome, progeroid type 1" EXACT CLINGEN_LABEL [] -synonym: "Ehlers-Danlos syndrome, progeroid type, 1" EXACT [OMIM:130070] -synonym: "Ehlers-Danlos syndrome, progeroid type, 1, formerly" RELATED [OMIM:130070] +synonym: "Ehlers-Danlos syndrome, progeroid type, 1" EXACT [] +synonym: "Ehlers-Danlos syndrome, progeroid type, 1, formerly" RELATED [] synonym: "Ehlers-Danlos syndrome, spondylodysplastic type, 1" EXACT [OMIM:130070] synonym: "galactosyltransferase 1 deficiency" EXACT [OMIM:130070] synonym: "PDS, defective biosynthesis of" EXACT [OMIM:130070] @@ -464237,12 +464329,12 @@ id: MONDO:0020684 name: Ehlers-Danlos syndrome, periodontal type 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "EDS 8" RELATED [OMIM:130080] -synonym: "EDSPD1" RELATED ABBREVIATION [OMIM:130080] -synonym: "Ehlers-Danlos syndrome, periodontal type, 1" RELATED [OMIM:130080] -synonym: "Ehlers-Danlos syndrome, periodontitis type" RELATED [OMIM:130080] -synonym: "Ehlers-Danlos syndrome, periodontosis type" RELATED [OMIM:130080] -synonym: "Ehlers-Danlos syndrome, type 8" RELATED [OMIM:130080] +synonym: "EDS 8" RELATED [] +synonym: "EDSPD1" RELATED ABBREVIATION [] +synonym: "Ehlers-Danlos syndrome, periodontal type, 1" RELATED [] +synonym: "Ehlers-Danlos syndrome, periodontitis type" RELATED [] +synonym: "Ehlers-Danlos syndrome, periodontosis type" RELATED [] +synonym: "Ehlers-Danlos syndrome, type 8" RELATED [] xref: DOID:0080986 {source="MONDO:equivalentTo"} xref: MEDGEN:1642148 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:130080 {source="MONDO:equivalentTo"} @@ -464272,7 +464364,7 @@ id: MONDO:0020686 name: acute tonsillitis def: "An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes." [NCIT:C97142] synonym: "acute adenoiditis" NARROW [] -synonym: "acute tonsillitis" EXACT [NCIT:C97142, UMLS:C0001361] +synonym: "acute tonsillitis" EXACT [icd11.foundation:260431605, NCIT:C97142, UMLS:C0001361] synonym: "infective tonsillitis" RELATED [UMLS:C0001361] xref: icd11.foundation:260431605 {source="MONDO:equivalentTo"} xref: ICD9:463 @@ -464338,7 +464430,7 @@ synonym: "Acquired-Immune Deficiency Syndrome Dementia Complex" RELATED [MESH:D0 synonym: "ADC" RELATED ABBREVIATION [GARD:0008250] synonym: "ADC - Acquired immune deficiency syndrome dementia complex" RELATED [UMLS:C0001849] synonym: "AIDS - Acquired immune deficiency syndrome dementia complex" RELATED [UMLS:C0001849] -synonym: "AIDS Dementia" RELATED [NCIT:C2864] +synonym: "AIDS Dementia" RELATED [] synonym: "AIDS dementia" EXACT [NCIT:C2864] synonym: "AIDS Dementia Complex" RELATED [MESH:D015526] synonym: "AIDS dementia complex" EXACT [EFO:0002608] @@ -464398,9 +464490,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adult glioblastoma" EXACT [NCIT:C9094] synonym: "adult glioblastoma multiforme" EXACT [NCIT:C9094] -synonym: "glioblastoma" BROAD [NCIT:C9094] -synonym: "grade IV adult astrocytic neoplasm" EXACT [NCIT:C9094] -synonym: "grade IV adult astrocytic tumor" EXACT [NCIT:C9094] +synonym: "glioblastoma" BROAD [] +synonym: "grade IV adult astrocytic neoplasm" EXACT [] +synonym: "grade IV adult astrocytic tumor" EXACT [] synonym: "grade IV adult astrocytic tumour" EXACT OMO:0003005 [] xref: MEDGEN:124527 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200087 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -464417,11 +464509,11 @@ name: spondylocostal dysostosis 1, autosomal recessive subset: gard_rare {source="GARD:10726", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SCDO1" RELATED ABBREVIATION [OMIM:277300] +synonym: "SCDO1" RELATED ABBREVIATION [] synonym: "spondylocostal dysostosis 1, autosomal recessive" EXACT [OMIM:277300] -synonym: "spondylothoracic dysostosis" RELATED DEPRECATED [OMIM:277300] -synonym: "spondylothoracic dysplasia" RELATED DEPRECATED [OMIM:277300] -synonym: "vertebral anomalies" RELATED [OMIM:277300] +synonym: "spondylothoracic dysostosis" RELATED DEPRECATED [] +synonym: "spondylothoracic dysplasia" RELATED DEPRECATED [] +synonym: "vertebral anomalies" RELATED [] xref: DOID:0112365 {source="MONDO:equivalentTo"} xref: GARD:10726 {source="MONDO:GARD"} xref: OMIM:277300 {source="MONDO:equivalentTo"} @@ -464484,9 +464576,9 @@ id: MONDO:0020696 name: vitamin B12 deficiency def: "A disease characterized by low serum levels of vitamin B12, either inherited or acquired." [https://orcid.org/0000-0002-6601-2165, PMID:16846473] subset: otar {source="MONDO:OTAR"} -synonym: "cobalamin deficiency" EXACT [] +synonym: "cobalamin deficiency" EXACT [icd11.foundation:1366882206] synonym: "hypocobalaminemia" EXACT [NCIT:C131684] -synonym: "vitamin b12 deficiency" EXACT [NCIT:C131684] +synonym: "vitamin b12 deficiency" EXACT [icd11.foundation:1366882206, NCIT:C131684] xref: EFO:0000734 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: HP:0100502 {source="MONDO:otherHierarchy"} xref: icd11.foundation:1366882206 {source="MONDO:equivalentTo"} @@ -464544,9 +464636,9 @@ name: brachydactyly type A1A subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BDA1" RELATED ABBREVIATION [OMIM:112500] -synonym: "BRACHYDACTYLY, type A1" RELATED [OMIM:112500] -synonym: "Farabee-type Brachydactyly" RELATED [OMIM:112500] +synonym: "BDA1" RELATED ABBREVIATION [] +synonym: "BRACHYDACTYLY, type A1" RELATED [] +synonym: "Farabee-type Brachydactyly" RELATED [] xref: Orphanet:93388 {source="OMIM:112500"} is_a: MONDO:0021004 {source="https://orcid.org/0000-0001-5208-3432"} ! brachydactyly relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/5956 {source="MONDO:mim2gene_medgen"} ! IHH @@ -464592,8 +464684,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "rippling muscle disease" BROAD [MONDO:Lexical, OMIM:606072] -synonym: "RMD" BROAD ABBREVIATION [MONDO:Lexical, OMIM:606072] +synonym: "rippling muscle disease" BROAD [MONDO:Lexical] +synonym: "RMD" BROAD ABBREVIATION [MONDO:Lexical] xref: ICD10CM:G71.8 {source="Orphanet:97238"} xref: MedDRA:10069417 {source="Orphanet:97238"} xref: MESH:C535685 {source="Orphanet:97238"} @@ -464606,11 +464698,11 @@ relationship: excluded_subClassOf MONDO:0016146 {source="Orphanet:97238", source id: MONDO:0020705 name: neural tube defects, susceptibility to subset: predisposition -synonym: "neural tube defects" EXACT [OMIM:182940, OMIM:genemap2] -synonym: "neural tube defects, SUSCEPTIBILITY to" RELATED [OMIM:182940] -synonym: "NTD" RELATED ABBREVIATION [OMIM:182940] -synonym: "spina bifida" RELATED [OMIM:182940] -synonym: "spina bifida, susceptibility to" EXACT [OMIM:182940, OMIM:genemap2] +synonym: "neural tube defects" EXACT [] +synonym: "neural tube defects, SUSCEPTIBILITY to" RELATED [] +synonym: "NTD" RELATED ABBREVIATION [] +synonym: "spina bifida" RELATED [] +synonym: "spina bifida, susceptibility to" EXACT [] xref: MEDGEN:856010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:182940 {source="MONDO:equivalentTo"} xref: Orphanet:268357 {source="OMIM:182940"} @@ -464636,7 +464728,7 @@ is_a: MONDO:0002181 {source="NCIT:C34671"} ! exostosis id: MONDO:0020707 name: central hearing loss def: "Hearing loss resulting from disorders of the central nervous system auditory pathways." [NCIT:C34662] -synonym: "central hearing loss" EXACT [NCIT:C34662] +synonym: "central hearing loss" EXACT [icd11.foundation:1513090105, NCIT:C34662] xref: icd11.foundation:1513090105 {source="MONDO:equivalentTo"} xref: MEDGEN:9162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C34662 {source="MONDO:equivalentTo"} @@ -464649,11 +464741,11 @@ intersection_of: disease_has_basis_in_dysfunction_of UBERON:0001017 ! central ne id: MONDO:0020708 name: brachial amyotrophic diplegia def: "A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction." [NCIT:C133085] -synonym: "BAD" BROAD AMBIGUOUS [NCIT:C133085] +synonym: "BAD" BROAD AMBIGUOUS [] synonym: "brachial amyotrophic diplegia" EXACT [NCIT:C133085] -synonym: "FAS" EXACT ABBREVIATION [PMID:26056822, PMID:26705123] -synonym: "flail arm syndrome" EXACT [PMID:26056822, PMID:26705123] -synonym: "man-in-barrel syndrome" EXACT [PMID:26056822, PMID:26705123] +synonym: "FAS" EXACT ABBREVIATION [NCIT:C133085, PMID:26056822, PMID:26705123] +synonym: "flail arm syndrome" EXACT [NCIT:C133085, PMID:26056822, PMID:26705123] +synonym: "man-in-barrel syndrome" EXACT [NCIT:C133085, PMID:26056822, PMID:26705123] xref: MEDGEN:1617621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C133085 {source="MONDO:equivalentTo"} xref: UMLS:C4522181 {source="MEDGEN:1617621", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -464704,13 +464796,13 @@ name: 46,XY sex reversal 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "46,XY gonadal dysgenesis, complete, SRY-related" EXACT [OMIM:400044] -synonym: "46,XY sex reversal 1" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:400044] -synonym: "46,XY sex reversal type 1" EXACT [MONDORULE:1, OMIM:400044] -synonym: "46,XY sex reversal, SRY-related" EXACT [OMIM:400044] -synonym: "46,XY true hermaphroditism, SRY-related" EXACT [OMIM:400044] -synonym: "46XY sex reversal 1, Y-linked" EXACT [OMIM:400044, OMIM:genemap2] -synonym: "SRXY1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:400044] +synonym: "46,XY gonadal dysgenesis, complete, SRY-related" EXACT [DOID:0111778, OMIM:400044] +synonym: "46,XY sex reversal 1" EXACT CLINGEN_LABEL [DOID:0111778, MONDO:Lexical, NCIT:C128188, OMIM:400044] +synonym: "46,XY sex reversal type 1" EXACT [MONDORULE:1] +synonym: "46,XY sex reversal, SRY-related" EXACT [DOID:0111778, OMIM:400044] +synonym: "46,XY true hermaphroditism, SRY-related" EXACT [] +synonym: "46XY sex reversal 1, Y-linked" EXACT [] +synonym: "SRXY1" EXACT ABBREVIATION [DOID:0111778, MONDO:Lexical, NCIT:C128188, OMIM:400044] xref: DOID:0111778 {source="MONDO:equivalentTo"} xref: MEDGEN:412662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C128188 {source="MONDO:equivalentTo"} @@ -464727,7 +464819,7 @@ id: MONDO:0020713 name: pulmonary venoocclusive disease 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "pulmonary venoocclusive disease 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:265450] +synonym: "pulmonary venoocclusive disease 1, autosomal dominant" RELATED [MONDO:Lexical] synonym: "PVOD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:265450] xref: DOID:0081268 {source="MONDO:equivalentTo"} xref: MEDGEN:854500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -464756,7 +464848,7 @@ name: multiple system atrophy 1, susceptibility to synonym: "MSA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:146500] synonym: "MSA1, susceptibility to" EXACT [OMIM:146500] synonym: "multiple system atrophy 1, susceptibility to" EXACT [MONDO:Lexical, OMIM:146500] -synonym: "multiple system atrophy, susceptibility to" EXACT [OMIM:146500, OMIM:genemap2] +synonym: "multiple system atrophy, susceptibility to" EXACT [] xref: MEDGEN:811503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:146500 {source="MONDO:equivalentTo"} xref: UMLS:C3714927 {source="MEDGEN:811503", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -464772,11 +464864,11 @@ name: thyroid dyshormonogenesis 1 subset: gard_rare {source="GARD:18188", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "familial thyroid dyshormonogenesis 1" EXACT [OMIM:274400] +synonym: "familial thyroid dyshormonogenesis 1" EXACT [] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 1" EXACT [OMIM:274400] synonym: "iodine accumulation, transport, or trapping defect" EXACT [OMIM:274400] -synonym: "TDH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:274400] -synonym: "thyroid dyshormonogenesis type 1" EXACT [MONDORULE:1, OMIM:274400] +synonym: "TDH1" EXACT ABBREVIATION [DOID:0112185, MONDO:Lexical, OMIM:274400] +synonym: "thyroid dyshormonogenesis type 1" EXACT [MONDORULE:1] synonym: "thyroid hormonogenesis, genetic defect in, 1" EXACT [OMIM:274400] xref: DOID:0112185 {source="MONDO:equivalentTo"} xref: GARD:18188 {source="MONDO:GARD"} @@ -464795,9 +464887,9 @@ name: autosomal dominant wooly hair subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ADWH" RELATED ABBREVIATION [MONDO:Lexical, OMIM:194300] -synonym: "woolly hair, autosomal dominant" EXACT OMO:0003005 [] -synonym: "wooly hair, autosomal dominant" EXACT [OMIM:194300, OMIM:genemap2] +synonym: "ADWH" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "woolly hair, autosomal dominant" EXACT OMO:0003005 [OMIM:194300] +synonym: "wooly hair, autosomal dominant" EXACT [] xref: DOID:0111573 {source="MONDO:equivalentTo"} xref: MEDGEN:348571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:194300 {source="MONDO:equivalentTo", source="Orphanet:170", source="Orphanet:170/e"} @@ -464812,10 +464904,10 @@ name: congenital short bowel syndrome, autosomal recessive subset: gard_rare {source="GARD:18585", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "congenital short bowel syndrome" BROAD [MONDO:Lexical, OMIM:615237, OMIM:genemap2] +synonym: "congenital short bowel syndrome" BROAD [MONDO:Lexical] synonym: "congenital short bowel syndrome 1" EXACT CLINGEN_LABEL [] synonym: "congenital short bowel syndrome due to CLMP variation" EXACT [https://orcid.org/0000-0001-5493-2602] -synonym: "CSBS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:615237] +synonym: "CSBS" BROAD ABBREVIATION [MONDO:Lexical] xref: GARD:18585 {source="MONDO:GARD"} xref: OMIM:615237 {source="MONDO:equivalentTo"} xref: Orphanet:2301 {source="OMIM:615237"} @@ -464841,7 +464933,7 @@ name: X-linked hypophosphatemic rickets subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "X-linked hypophosphatemic rickets" EXACT CLINGEN_LABEL [] +synonym: "X-linked hypophosphatemic rickets" EXACT CLINGEN_LABEL [icd11.foundation:1169135980] synonym: "X-linked hypophosphatemic rickets (recessive or dominant)" EXACT [https://orcid.org/0000-0001-5493-2602] xref: icd11.foundation:1169135980 {source="MONDO:equivalentTo"} xref: MEDGEN:761927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -464865,24 +464957,24 @@ synonym: "anaemia hereditary sideroblastic" RELATED OMO:0003005 [] synonym: "anaemia sex-linked hypochromic sideroblastic" RELATED OMO:0003005 [] synonym: "anemia hereditary sideroblastic" RELATED [GARD:0009456] synonym: "anemia sex-linked hypochromic sideroblastic" RELATED [GARD:0009456] -synonym: "anemia, hereditary sideroblastic" RELATED [OMIM:300751] -synonym: "anemia, hypochromic" RELATED [OMIM:300751] -synonym: "anemia, sideroblastic, 1" RELATED [OMIM:300751] -synonym: "anemia, sideroblastic, 1, X-linked recessive" EXACT [OMIM:300751, OMIM:genemap2] -synonym: "anemia, sideroblastic, X-linked" RELATED [MONDO:Lexical, OMIM:300751] +synonym: "anemia, hereditary sideroblastic" RELATED [] +synonym: "anemia, hypochromic" RELATED [] +synonym: "anemia, sideroblastic, 1" RELATED [] +synonym: "anemia, sideroblastic, 1, X-linked recessive" EXACT [] +synonym: "anemia, sideroblastic, X-linked" RELATED [MONDO:Lexical] synonym: "ANH1" RELATED ABBREVIATION [GARD:0009456] synonym: "erythroid 5-aminolevulinate synthase deficiency" RELATED [GARD:0009456] synonym: "hereditary iron-loading Anaemia" RELATED OMO:0003005 [] -synonym: "hereditary iron-loading Anemia" RELATED [OMIM:300751] -synonym: "SIDBA1" RELATED ABBREVIATION [OMIM:300751] +synonym: "hereditary iron-loading Anemia" RELATED [] +synonym: "SIDBA1" RELATED ABBREVIATION [] synonym: "sideroblastic anaemia X-linked" RELATED OMO:0003005 [] synonym: "sideroblastic anemia X-linked" RELATED [GARD:0009456] synonym: "sideroblastic anemia, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "X chromosome-linked sideroblastic anaemia" RELATED OMO:0003005 [] synonym: "X chromosome-linked sideroblastic anemia" RELATED [GARD:0009456] -synonym: "X-linked sideroblastic anaemia" EXACT OMO:0003005 [] -synonym: "X-linked sideroblastic anemia" EXACT [MONDO:0010419] -synonym: "XLSA" EXACT ABBREVIATION [DOID:0060063, MONDO:Lexical, OMIM:300751, Orphanet:75563] +synonym: "X-linked sideroblastic anaemia" EXACT OMO:0003005 [DOID:0060063] +synonym: "X-linked sideroblastic anemia" EXACT [DOID:0060063, MONDO:0010419, Orphanet:75563] +synonym: "XLSA" EXACT ABBREVIATION [DOID:0060063, MONDO:Lexical, Orphanet:75563] xref: DOID:0060063 {source="MONDO:equivalentTo"} xref: GARD:9456 {source="MONDO:GARD"} xref: ICD10CM:D64.0 {source="Orphanet:75563", source="Orphanet:75563/attributed", source="Orphanet:75563/ntbt"} @@ -464905,9 +464997,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020722 name: nephrolithiasis susceptibility caused by SLC26A1 -synonym: "CAON" RELATED ABBREVIATION [OMIM:167030] -synonym: "nephrolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030] -synonym: "urolithiasis, calcium oxalate" RELATED [DOID:585, OMIM:167030] +synonym: "CAON" RELATED ABBREVIATION [] +synonym: "nephrolithiasis, calcium oxalate" RELATED [] +synonym: "urolithiasis, calcium oxalate" RELATED [] xref: DOID:0080652 {source="MONDO:equivalentTo"} xref: MEDGEN:1830325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:167030 {source="MONDO:equivalentTo", source="DOID:585"} @@ -464925,16 +465017,16 @@ subset: gard_rare {source="GARD:18636", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective" RELATED [OMIM:264700] -synonym: "1-Alpha-Hydroxylase deficiency" RELATED [OMIM:264700] -synonym: "25-hydroxycholecalciferol-1-Hydroxylase deficiency" RELATED [OMIM:264700] -synonym: "PDDR 1A" RELATED [OMIM:264700] -synonym: "pseudovitamin D-deficiency rickets, type 1A" RELATED [OMIM:264700] -synonym: "VDDR1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:264700] -synonym: "vitamin D dependency, type 1" RELATED [OMIM:264700] -synonym: "vitamin D hydroxylation-deficient rickets, type 1A" RELATED [MONDO:Lexical, OMIM:264700] +synonym: "1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective" RELATED [] +synonym: "1-Alpha-Hydroxylase deficiency" RELATED [] +synonym: "25-hydroxycholecalciferol-1-Hydroxylase deficiency" RELATED [] +synonym: "PDDR 1A" RELATED [] +synonym: "pseudovitamin D-deficiency rickets, type 1A" RELATED [] +synonym: "VDDR1A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "vitamin D dependency, type 1" RELATED [] +synonym: "vitamin D hydroxylation-deficient rickets, type 1A" RELATED [MONDO:Lexical] synonym: "vitamin D-dependent rickets, type 1A" EXACT [OMIM:264700] -synonym: "vitamin D-dependent rickets, type I" EXACT [OMIM:264700, OMIM:genemap2] +synonym: "vitamin D-dependent rickets, type I" EXACT [] xref: DOID:0080886 {source="MONDO:equivalentTo"} xref: GARD:18636 {source="MONDO:GARD"} xref: OMIM:264700 {source="Orphanet:289157", source="MONDO:equivalentTo", source="Orphanet:289157/e"} @@ -464954,17 +465046,17 @@ name: cerebral cavernous malformation 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cavernous angioma, familial" RELATED [OMIM:116860] -synonym: "cavernous angiomatous malformations" RELATED [OMIM:116860] -synonym: "cavernous malformations of CNS and retina" RELATED [OMIM:116860] -synonym: "CCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:116860] -synonym: "cerebral capillary malformations" RELATED [OMIM:116860] -synonym: "cerebral cavernous malformation 1" EXACT CLINGEN_LABEL [] -synonym: "cerebral cavernous malformations" RELATED [MONDO:Lexical, OMIM:116860] -synonym: "cerebral cavernous malformations 1" RELATED [OMIM:116860] -synonym: "cerebral cavernous malformations-1" EXACT [OMIM:116860, OMIM:genemap2] -synonym: "familial cerebral cavernous malformation 1" EXACT [Orphanet:221061] -synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [OMIM:116860] +synonym: "cavernous angioma, familial" RELATED [] +synonym: "cavernous angiomatous malformations" RELATED [] +synonym: "cavernous malformations of CNS and retina" RELATED [] +synonym: "CCM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "cerebral capillary malformations" RELATED [] +synonym: "cerebral cavernous malformation 1" EXACT CLINGEN_LABEL [DOID:0080491] +synonym: "cerebral cavernous malformations" RELATED [MONDO:Lexical] +synonym: "cerebral cavernous malformations 1" RELATED [] +synonym: "cerebral cavernous malformations-1" EXACT [] +synonym: "familial cerebral cavernous malformation 1" EXACT [] +synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [] xref: DOID:0080491 {source="MONDO:equivalentTo"} xref: MEDGEN:237128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:116860 {source="Orphanet:221061/e", source="MONDO:equivalentTo", source="Orphanet:221061"} @@ -464987,7 +465079,7 @@ synonym: "anaemia of chronic disorder" RELATED OMO:0003005 [] synonym: "anaemia of chronic illness" EXACT OMO:0003005 [] synonym: "anaemia of chronic inflammation" EXACT OMO:0003005 [] synonym: "anaemia of systemic disease" RELATED OMO:0003005 [] -synonym: "anemia due to Chronic Disorder" RELATED [NCIT:C35659] +synonym: "anemia due to Chronic Disorder" RELATED [] synonym: "anemia due to chronic disorder" EXACT [NCIT:C35659] synonym: "anemia of chronic disease" EXACT [NCIT:C35659, UMLS:C0002873] synonym: "anemia of chronic disorder" RELATED [UMLS:C0002873] @@ -465017,15 +465109,15 @@ synonym: "ADMCKD1" RELATED ABBREVIATION [GARD:0007002] synonym: "ADTKD-MUC1" EXACT [Orphanet:88949, PMID:25738250] synonym: "autosomal dominant medullary cystic kidney disease without hyperuricemia" EXACT [MONDO:0019510] synonym: "autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1" EXACT [PMID:25738250] -synonym: "Mckd" RELATED [OMIM:174000] -synonym: "MCKD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:174000] +synonym: "Mckd" RELATED [] +synonym: "MCKD1" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:88949] synonym: "medullary cystic kidney disease 1" EXACT [MONDO:Lexical, OMIM:174000] -synonym: "medullary cystic kidney disease type 1" EXACT [MONDORULE:1, OMIM:174000] +synonym: "medullary cystic kidney disease type 1" EXACT [MONDORULE:1, Orphanet:88949] synonym: "medullary cystic kidney disease, autosomal dominant" EXACT [OMIM:174000] -synonym: "MUC1-related autosomal dominant medullary cystic kidney disease" EXACT [Orphanet:88949] -synonym: "MUC1-related autosomal dominant tubulointerstitial kidney disease" RELATED [Orphanet:88949] +synonym: "MUC1-related autosomal dominant medullary cystic kidney disease" EXACT [] +synonym: "MUC1-related autosomal dominant tubulointerstitial kidney disease" RELATED [] synonym: "MUCI-related ADTKD" EXACT [Orphanet:88949] -synonym: "polycystic kidneys, medullary type" RELATED [OMIM:174000] +synonym: "polycystic kidneys, medullary type" RELATED [] xref: GARD:7002 {source="MONDO:GARD"} xref: ICD10CM:Q61.5 {source="Orphanet:88949/attributed", source="Orphanet:88949/ntbt", source="Orphanet:88949"} xref: MEDGEN:358137 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -465048,9 +465140,9 @@ name: combined oxidative phosphorylation deficiency 22 subset: gard_rare {source="MONDO:GARD"} subset: n_of_one subset: rare -synonym: "combined oxidative phosphorylation deficiency 22" EXACT [MONDO:Lexical, OMIM:616045] -synonym: "combined oxidative phosphorylation deficiency type 22" RELATED [MONDORULE:2, OMIM:616045] -synonym: "COXPD22" RELATED ABBREVIATION [MONDO:Lexical, OMIM:616045] +synonym: "combined oxidative phosphorylation deficiency 22" EXACT [DOID:0111498, MONDO:Lexical, OMIM:616045] +synonym: "combined oxidative phosphorylation deficiency type 22" RELATED [MONDORULE:2] +synonym: "COXPD22" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0111498 {source="MONDO:equivalentTo"} xref: MEDGEN:863499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616045 {source="Orphanet:254913/w", source="MONDO:equivalentTo", source="Orphanet:254913"} @@ -465065,11 +465157,11 @@ name: hypouricemia, renal 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Dalmatian hypouricemia" RELATED [OMIM:220150] -synonym: "hypouricemia, renal, 1" RELATED [MONDO:Lexical, OMIM:220150] -synonym: "hypouricemia, renal, type 1" RELATED [MONDORULE:1, OMIM:220150] -synonym: "renal hypouricemia" RELATED [OMIM:220150] -synonym: "RHUC1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:220150] +synonym: "Dalmatian hypouricemia" RELATED [] +synonym: "hypouricemia, renal, 1" RELATED [MONDO:Lexical] +synonym: "hypouricemia, renal, type 1" RELATED [MONDORULE:1] +synonym: "renal hypouricemia" RELATED [] +synonym: "RHUC1" RELATED ABBREVIATION [MONDO:Lexical] xref: MEDGEN:141632 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:220150 {source="Orphanet:94088", source="MONDO:equivalentTo", source="Orphanet:94088/e"} xref: Orphanet:94088 {source="OMIM:220150"} @@ -465088,8 +465180,8 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "agammaglobulinemia 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:601495] -synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [OMIM:601495] +synonym: "agammaglobulinemia 1, autosomal recessive" RELATED [MONDO:Lexical] +synonym: "agammaglobulinemia, autosomal recessive, due to IGHM defect" RELATED [] synonym: "AGM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:601495] synonym: "autosomal recessive agammaglobulinemia 1" EXACT CLINGEN_LABEL [] xref: DOID:0081136 {source="MONDO:equivalentTo"} @@ -465111,11 +465203,11 @@ name: carpal tunnel syndrome 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "amyotrophy, thenar, of carpal origin" EXACT [OMIM:115430] -synonym: "carpal tunnel syndrome" BROAD [OMIM:115430] -synonym: "carpal tunnel syndrome, familial" EXACT [OMIM:115430, OMIM:genemap2] -synonym: "CTS" RELATED ABBREVIATION [OMIM:115430] -synonym: "CTS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:115430] +synonym: "amyotrophy, thenar, of carpal origin" EXACT [] +synonym: "carpal tunnel syndrome" BROAD [] +synonym: "carpal tunnel syndrome, familial" EXACT [] +synonym: "CTS" RELATED ABBREVIATION [] +synonym: "CTS1" EXACT ABBREVIATION [DOID:0070466, MONDO:Lexical, OMIM:115430] xref: DOID:0070466 {source="MONDO:equivalentTo"} xref: MEDGEN:1830382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:115430 {source="MONDO:equivalentTo", source="EFO:0004143", source="DOID:12169"} @@ -465133,11 +465225,11 @@ def: "A viral infection that is transmitted by an arthropod." [NCIT:C34396] subset: otar {source="MONDO:OTAR"} synonym: "Arboviral disease" RELATED [UMLS:C0003723] synonym: "ARBOVIRUS INFECT" RELATED [MESH:D001102] -synonym: "Arbovirus Infection" RELATED [MESH:D001102, NCIT:C34396] +synonym: "Arbovirus Infection" RELATED [MESH:D001102] synonym: "Arbovirus infection" RELATED [UMLS:C0003723] synonym: "arbovirus infection" EXACT [NCIT:C34396] synonym: "Arbovirus Infections" RELATED [MESH:D001102] -synonym: "Arthropod-Borne Viral Infection" RELATED [NCIT:C34396] +synonym: "Arthropod-Borne Viral Infection" RELATED [] synonym: "Arthropod-borne viral infection" RELATED [UMLS:C0003723] synonym: "arthropod-borne viral infection" EXACT [NCIT:C34396] synonym: "Infection, Arbovirus" RELATED [MESH:D001102] @@ -465175,12 +465267,12 @@ name: proximal symphalangism 1A subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Cushing symphalangism" RELATED [OMIM:185800] -synonym: "hereditary absence of the proximal interphalangeal joints" RELATED [OMIM:185800] -synonym: "Sym1" RELATED [OMIM:185800] -synonym: "SYM1A" RELATED ABBREVIATION [MONDO:Lexical, OMIM:185800] -synonym: "symphalangism, proximal, 1A" RELATED [MONDO:Lexical, OMIM:185800] -synonym: "symphalangism, proximal, type 1A" RELATED [MONDORULE:4, OMIM:185800] +synonym: "Cushing symphalangism" RELATED [] +synonym: "hereditary absence of the proximal interphalangeal joints" RELATED [] +synonym: "Sym1" RELATED [] +synonym: "SYM1A" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "symphalangism, proximal, 1A" RELATED [MONDO:Lexical] +synonym: "symphalangism, proximal, type 1A" RELATED [MONDORULE:4] xref: DOID:0080787 {source="MONDO:equivalentTo"} xref: MEDGEN:811492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:185800 {source="Orphanet:3250/e", source="DOID:0050788", source="MONDO:equivalentTo", source="Orphanet:3250"} @@ -465199,8 +465291,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020734 name: obsolete erythrocyte AMP deaminase deficiency comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "AMP deaminase deficiency, erythrocytic" EXACT [OMIM:612874, OMIM:genemap2] -synonym: "erythrocyte AMP deaminase deficiency" EXACT [OMIM:612874] +synonym: "AMP deaminase deficiency, erythrocytic" EXACT [] +synonym: "erythrocyte AMP deaminase deficiency" EXACT [] xref: OMIM:612874 {source="Orphanet:45", source="MONDO:obsoleteEquivalent", source="Orphanet:45/e"} xref: Orphanet:45 {source="OMIM:612874"} property_value: IAO:0000231 OMO:0001000 @@ -465214,13 +465306,13 @@ name: ACTH-independent macronodular adrenal hyperplasia 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ACTH-independent macronodular adrenal hyperplasia" RELATED [MONDO:Lexical, OMIM:219080] -synonym: "ACTH-independent macronodular adrenal hyperplasia, Somatic mutation" EXACT [OMIM:219080, OMIM:genemap2] -synonym: "ACTH-independent macronodular adrenocortical hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080, Orphanet:189427] -synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080] -synonym: "AIMAH1" RELATED ABBREVIATION [MESH:C565662, MONDO:Lexical, OMIM:219080] -synonym: "corticotropin-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662, OMIM:219080] -synonym: "Cushing syndrome, adrenal, due to AIMAH" RELATED [MESH:C565662, OMIM:219080] +synonym: "ACTH-independent macronodular adrenal hyperplasia" RELATED [MONDO:Lexical] +synonym: "ACTH-independent macronodular adrenal hyperplasia, Somatic mutation" EXACT [] +synonym: "ACTH-independent macronodular adrenocortical hyperplasia" RELATED [GARD:0010824, MESH:C565662] +synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662] +synonym: "AIMAH1" RELATED ABBREVIATION [MESH:C565662, MONDO:Lexical] +synonym: "corticotropin-independent macronodular adrenal hyperplasia" RELATED [GARD:0010824, MESH:C565662] +synonym: "Cushing syndrome, adrenal, due to AIMAH" RELATED [MESH:C565662] xref: DOID:0111623 {source="MONDO:equivalentTo"} xref: MEDGEN:347456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:219080 {source="MONDO:equivalentTo", source="Orphanet:189427", source="GARD:0010824", source="Orphanet:189427/e"} @@ -465238,9 +465330,9 @@ name: uncombable hair syndrome 1 subset: gard_rare {source="GARD:15122", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "pili trianguli Et canaliculi" RELATED [OMIM:191480] -synonym: "UHS1" RELATED ABBREVIATION [OMIM:191480] -synonym: "uncombable hair syndrome" RELATED [OMIM:191480] +synonym: "pili trianguli Et canaliculi" RELATED [] +synonym: "UHS1" RELATED ABBREVIATION [] +synonym: "uncombable hair syndrome" RELATED [] synonym: "uncombable hair syndrome 1" EXACT [OMIM:191480] xref: GARD:15122 {source="MONDO:GARD"} xref: MEDGEN:1640179 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -465258,9 +465350,9 @@ name: optic atrophy 10 with or without ataxia, intellectual disability, and seiz subset: gard_rare {source="GARD:18200", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "OPA10" RELATED DEPRECATED [OMIM:616732] -synonym: "optic atrophy 10 with or without ataxia, intellectual disability, and seizures" EXACT [OMIM:616732] -synonym: "optic atrophy 10 with or without ataxia, mental retardation, and seizures" RELATED DEPRECATED [OMIM:616732] +synonym: "OPA10" RELATED DEPRECATED [] +synonym: "optic atrophy 10 with or without ataxia, intellectual disability, and seizures" EXACT [] +synonym: "optic atrophy 10 with or without ataxia, mental retardation, and seizures" RELATED DEPRECATED [] xref: DOID:0111434 {source="MONDO:equivalentTo"} xref: GARD:18200 {source="MONDO:GARD"} xref: MEDGEN:905727 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -465274,9 +465366,9 @@ id: MONDO:0020738 name: multiple benign circumferential skin creases on limbs 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CSCSC1" RELATED ABBREVIATION [OMIM:156610] -synonym: "skin creases, congenital symmetric circumferential, 1" RELATED [OMIM:156610] -synonym: "symmetric circumferential skin creases, congenital, 1" EXACT [OMIM:156610, OMIM:genemap2] +synonym: "CSCSC1" RELATED ABBREVIATION [] +synonym: "skin creases, congenital symmetric circumferential, 1" RELATED [] +synonym: "symmetric circumferential skin creases, congenital, 1" EXACT [] xref: DOID:0112242 {source="MONDO:equivalentTo"} xref: MEDGEN:1631916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:156610 {source="Orphanet:2505/e", source="MONDO:equivalentTo", source="Orphanet:2505"} @@ -465313,12 +465405,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ectodermal dysplasia and immunodeficiency 1, X-linked recessive" EXACT [OMIM:300291, OMIM:genemap2] -synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency 1" RELATED [OMIM:300291] -synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency 1" RELATED [OMIM:300291] -synonym: "EDA-Id" BROAD [OMIM:300291] -synonym: "EDAID1" EXACT ABBREVIATION [OMIM:300291] -synonym: "HED-Id" BROAD [OMIM:300291] +synonym: "ectodermal dysplasia and immunodeficiency 1, X-linked recessive" EXACT [] +synonym: "ectodermal dysplasia, anhidrotic, with immune deficiency 1" RELATED [] +synonym: "ectodermal dysplasia, hypohidrotic, with immune deficiency 1" RELATED [] +synonym: "EDA-Id" BROAD [] +synonym: "EDAID1" EXACT ABBREVIATION [NCIT:C176592, OMIM:300291] +synonym: "HED-Id" BROAD [] xref: DOID:0081078 {source="MONDO:equivalentTo"} xref: MEDGEN:375787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C176592 {source="MONDO:equivalentTo"} @@ -465339,12 +465431,12 @@ id: MONDO:0020741 name: pyridoxine-dependent epilepsy caused by ALDH7A1 mutant subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AASA dehydrogenase deficiency" RELATED [OMIM:266100] -synonym: "EPD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:266100] -synonym: "Epd" RELATED [OMIM:266100] -synonym: "epilepsy, pyridoxine-dependent" RELATED [MONDO:Lexical, OMIM:266100] -synonym: "pyridoxine dependency with seizures" RELATED [OMIM:266100] -synonym: "pyridoxine-dependent epilepsy" RELATED [OMIM:266100] +synonym: "AASA dehydrogenase deficiency" RELATED [] +synonym: "EPD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Epd" RELATED [] +synonym: "epilepsy, pyridoxine-dependent" RELATED [MONDO:Lexical] +synonym: "pyridoxine dependency with seizures" RELATED [] +synonym: "pyridoxine-dependent epilepsy" RELATED [] synonym: "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" EXACT CLINGEN_LABEL [] xref: DOID:0070519 {source="MONDO:equivalentTo"} xref: OMIM:266100 {source="Orphanet:3006", source="MONDO:equivalentTo", source="Orphanet:3006/e"} @@ -465358,10 +465450,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0020742 name: obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome comment: See https://github.com/monarch-initiative/mondo/issues/763 -synonym: "CAMAK syndrome" RELATED [OMIM:212540] -synonym: "CAMFAK syndrome" RELATED [OMIM:212540] -synonym: "cataract, microcephaly, arthrogryposis, kyphosis syndrome" RELATED [OMIM:212540] -synonym: "cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" RELATED [OMIM:212540] +synonym: "CAMAK syndrome" RELATED [] +synonym: "CAMFAK syndrome" RELATED [] +synonym: "cataract, microcephaly, arthrogryposis, kyphosis syndrome" RELATED [] +synonym: "cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" RELATED [] synonym: "cataract-microcephaly-failure to thrive-kyphoscoliosis" RELATED [MESH:C537965] xref: MESH:C537965 {source="MONDO:obsoleteEquivalent"} xref: OMIM:212540 {source="MONDO:obsoleteEquivalent", source="GARD:0001060"} @@ -465380,8 +465472,8 @@ subset: ordo_disorder {source="Orphanet:530995"} subset: orphanet_rare {source="Orphanet:530995"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mixed phenotype acute leukemia" EXACT [NCIT:C82179] -synonym: "MPAL" EXACT ABBREVIATION [NCIT:C82179] +synonym: "mixed phenotype acute leukemia" EXACT [NCIT:C82179, Orphanet:530995] +synonym: "MPAL" EXACT ABBREVIATION [NCIT:C82179, Orphanet:530995] xref: GARD:17972 {source="MONDO:GARD"} xref: ICD10CM:C95.0 {source="Orphanet:530995"} xref: MedDRA:10067399 {source="Orphanet:530995"} @@ -465402,7 +465494,7 @@ def: "A disorder characterized by an electrocardiographic finding of intermitten synonym: "AV block second degree Mobitz type I" EXACT [NCIT:C62017] synonym: "AV block second degree Möbitz type I" EXACT [NCIT:C62017] synonym: "Mobitz I" EXACT [NCIT:C62017] -synonym: "Mobitz type I" EXACT [NCIT:C62017] +synonym: "Mobitz type I" EXACT [] synonym: "Mobitz type I second degree AV block" EXACT [NCIT:C62017] synonym: "Möbitz I" EXACT [NCIT:C62017] synonym: "Möbitz type I second degree AV block" EXACT [NCIT:C62017] @@ -465422,11 +465514,11 @@ id: MONDO:0020745 name: ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome subset: n_of_one subset: otar {source="MONDO:OTAR"} -synonym: "autosomal dominant cardiac arrhythmia (Kuhn)" EXACT DEPRECATED [OMIM:115000] -synonym: "cardiac arrhythmia" RELATED [OMIM:115000] -synonym: "extrasystoles" RELATED [OMIM:115000] +synonym: "autosomal dominant cardiac arrhythmia (Kuhn)" EXACT DEPRECATED [] +synonym: "cardiac arrhythmia" RELATED [] +synonym: "extrasystoles" RELATED [] synonym: "VACRDS" EXACT ABBREVIATION [OMIM:115000] -synonym: "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" EXACT [OMIM:115000, OMIM:genemap2] +synonym: "ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome" EXACT [OMIM:115000] xref: MEDGEN:1781114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:115000 {source="MONDO:equivalentTo"} xref: UMLS:C5542154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1781114"} @@ -465441,7 +465533,7 @@ name: contractures, pterygia, and variable skeletal fusions syndrome 1B subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B" EXACT [OMIM:618469, OMIM:genemap2] +synonym: "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B" EXACT [DOID:0081322, OMIM:618469] xref: DOID:0081322 {source="MONDO:equivalentTo"} xref: MEDGEN:1676457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618469 {source="MONDO:equivalentTo"} @@ -465460,7 +465552,7 @@ name: sitosterolemia 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "sitosterolemia 1" EXACT CLINGEN_LABEL [] +synonym: "sitosterolemia 1" EXACT CLINGEN_LABEL [OMIM:210250] synonym: "STSL1" EXACT ABBREVIATION [OMIM:210250] xref: MEDGEN:440869 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:210250 {source="MONDO:equivalentTo"} @@ -465491,7 +465583,7 @@ name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopat subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" EXACT CLINGEN_LABEL [] +synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" EXACT CLINGEN_LABEL [OMIM:221770] xref: MEDGEN:1648386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:221770 {source="MONDO:equivalentTo"} xref: Orphanet:2770 {source="OMIM:221770"} @@ -465530,7 +465622,7 @@ id: MONDO:0020752 name: myoclonic epilepsy, juvenile, susceptibility to, 1 comment: The OMIM entry is named generically, the same as the PS (https://omim.org/phenotypicSeries/PS254770) but it refers to a susceptibility conferred by a specific gene. subset: predisposition -synonym: "EJM1" EXACT ABBREVIATION [OMIM:254770] +synonym: "EJM1" EXACT ABBREVIATION [] xref: MEDGEN:342587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:254770 {source="MONDO:includedEntryInOMIM"} xref: Orphanet:307 {source="OMIM:254770"} @@ -465546,7 +465638,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020753 name: Orthocoronavirinae infectious disease def: "Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19." [https://github.com/monarch-initiative/mondo/issues/1355, https://orcid.org/0000-0002-6601-2165, Wikipedia:Coronavirus] -synonym: "coronavirus infectious disease" EXACT [Wikipedia:Coronavirus] +synonym: "coronavirus infectious disease" EXACT [DOID:0080599, Wikipedia:Coronavirus] xref: DOID:0080599 {source="MONDO:equivalentTo"} is_a: MONDO:0005108 {source="DOID:0080599", source="MONDO:redundant"} ! viral infectious disease is_a: MONDO:0005718 ! Coronaviridae infectious disease @@ -465557,12 +465649,12 @@ intersection_of: MONDO:0100332 NCBITaxon:2501931 ! disease has primary infectiou id: MONDO:0020754 name: visceral myopathy 1 subset: otar {source="MONDO:OTAR"} -synonym: "infantile visceral myopathy" RELATED [OMIM:155310] -synonym: "megaduodenum and/or megacystis" RELATED [OMIM:155310] -synonym: "pseudoobstruction, idiopathic intestinal" RELATED [OMIM:155310] +synonym: "infantile visceral myopathy" RELATED [] +synonym: "megaduodenum and/or megacystis" RELATED [] +synonym: "pseudoobstruction, idiopathic intestinal" RELATED [] synonym: "visceral myopathy" EXACT [OMIM:155310] -synonym: "visceral myopathy 1" EXACT [OMIM:155310, OMIM:genemap2] -synonym: "VSCM" RELATED ABBREVIATION [OMIM:155310] +synonym: "visceral myopathy 1" EXACT [OMIM:155310] +synonym: "VSCM" RELATED ABBREVIATION [] xref: MEDGEN:1785391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:155310 {source="MONDO:equivalentTo"} xref: Orphanet:2604 {source="OMIM:155310"} @@ -465587,14 +465679,14 @@ subset: gard_rare {source="GARD:2638", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "familial hemiplegic migraine type 1" EXACT [GARD:0002638] -synonym: "FHM1" EXACT ABBREVIATION [GARD:0002638, MONDO:Lexical, OMIM:141500] +synonym: "FHM1" EXACT ABBREVIATION [DOID:0111181, GARD:0002638, MONDO:Lexical, OMIM:141500] synonym: "hemiplegic migraine, familial type 1" EXACT [GARD:0002638] -synonym: "MHP1" EXACT ABBREVIATION [GARD:0002638, OMIM:141500] -synonym: "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" EXACT [GARD:0002638, OMIM:141500] +synonym: "MHP1" EXACT ABBREVIATION [DOID:0111181, GARD:0002638, OMIM:141500] +synonym: "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" EXACT [GARD:0002638] synonym: "migraine, familial hemiplegic, 1" EXACT [MONDO:Lexical, OMIM:141500] -synonym: "migraine, familial hemiplegic, 1, with progressive cerebellar ataxia" EXACT [OMIM:141500, OMIM:genemap2] -synonym: "migraine, familial hemiplegic, type 1" EXACT [MONDORULE:1, OMIM:141500] -synonym: "migraine, sporadic hemiplegic" EXACT [OMIM:141500] +synonym: "migraine, familial hemiplegic, 1, with progressive cerebellar ataxia" EXACT [] +synonym: "migraine, familial hemiplegic, type 1" EXACT [MONDORULE:1] +synonym: "migraine, sporadic hemiplegic" EXACT [] xref: DOID:0111181 {source="MONDO:equivalentTo"} xref: GARD:2638 {source="MONDO:GARD"} xref: MEDGEN:331388 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -465616,7 +465708,7 @@ name: sporadic hemiplegic migraine def: "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." [NCIT:C117011] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "sporadic hemiplegic migraine" EXACT [NCIT:C117011] +synonym: "sporadic hemiplegic migraine" EXACT [icd11.foundation:1303340532, NCIT:C117011] xref: icd11.foundation:1303340532 {source="MONDO:equivalentTo"} xref: MEDGEN:318737 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C117011 {source="MONDO:equivalentTo"} @@ -465635,7 +465727,7 @@ replaced_by: MONDO:0037872 id: MONDO:0020759 name: epilepsy, childhood absence, susceptibility to, 1 synonym: "ECA1" EXACT ABBREVIATION [OMIM:600131] -synonym: "epilepsy, childhood absence, 1" EXACT [OMIM:600131, OMIM:genemap2] +synonym: "epilepsy, childhood absence, 1" EXACT [] synonym: "epilepsy, childhood absence, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:600131] xref: MEDGEN:325057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600131 {source="MONDO:equivalentTo"} @@ -465673,7 +465765,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="NORD:868", source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bowen Disease" EXACT [MESH:D001913, NORD:868] +synonym: "Bowen Disease" EXACT [MESH:D001913, NCIT:C62571, NORD:868] synonym: "Bowen disease" EXACT [NCIT:C62571] synonym: "Bowen disease of the skin" EXACT [NCIT:C62571] synonym: "Bowen's disease of the skin" EXACT [NCIT:C62571] @@ -465701,7 +465793,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "DMJDS2" EXACT ABBREVIATION [OMIM:618646] -synonym: "spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia" RELATED [OMIM:618646] +synonym: "spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia" RELATED [] xref: MEDGEN:1684846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618646 {source="MONDO:equivalentTo"} xref: UMLS:C5231440 {source="MEDGEN:1684846", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -465715,7 +465807,7 @@ name: Menke-Hennekam syndrome 1 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Menke-Hennekam syndrome 1" EXACT [OMIM:618332] -synonym: "MKHK1" RELATED ABBREVIATION [OMIM:618332] +synonym: "MKHK1" RELATED ABBREVIATION [] xref: MEDGEN:1675629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618332 {source="MONDO:equivalentTo"} xref: UMLS:C5193034 {source="MEDGEN:1675629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -465748,7 +465840,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CHN2" EXACT ABBREVIATION [OMIM:618184] -synonym: "hypomyelinating neuropathy, congenital, 2" EXACT [OMIM:618184, OMIM:genemap2] +synonym: "hypomyelinating neuropathy, congenital, 2" EXACT [] synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2" EXACT [OMIM:618184] xref: MEDGEN:1648446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618184 {source="MONDO:equivalentTo"} @@ -465767,7 +465859,7 @@ subset: gard_rare {source="GARD:18567", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CHN3" EXACT ABBREVIATION [OMIM:618186] -synonym: "hypomyelinating neuropathy, congenital, 3" EXACT [OMIM:618186, OMIM:genemap2] +synonym: "hypomyelinating neuropathy, congenital, 3" EXACT [] synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3" EXACT [OMIM:618186] xref: GARD:18567 {source="MONDO:GARD"} xref: MEDGEN:1648417 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -465784,7 +465876,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020767 name: cauda equina syndrome with neurogenic bladder def: "A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disk herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted." [NCIT:C34453] -synonym: "Cauda Equina Syndrome with Neurogenic Bladder" RELATED [NCIT:C34453] +synonym: "Cauda Equina Syndrome with Neurogenic Bladder" RELATED [] synonym: "Cauda equina syndrome with neurogenic bladder" RELATED [UMLS:C0007459] synonym: "cauda equina syndrome with neurogenic bladder" EXACT [NCIT:C34453] xref: ICD9:344.61 @@ -465814,7 +465906,7 @@ name: Menke-Hennekam syndrome 2 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Menke-Hennekam syndrome 2" EXACT [OMIM:618333] -synonym: "MKHK2" RELATED ABBREVIATION [OMIM:618333] +synonym: "MKHK2" RELATED ABBREVIATION [] xref: MEDGEN:1676668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618333 {source="MONDO:equivalentTo"} xref: UMLS:C5193035 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676668"} @@ -465827,8 +465919,8 @@ name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SCAN3" RELATED ABBREVIATION [OMIM:618387] -synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3" RELATED [OMIM:618387] +synonym: "SCAN3" RELATED ABBREVIATION [] +synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3" RELATED [] xref: DOID:0070465 {source="MONDO:equivalentTo"} xref: MEDGEN:1673607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618387 {source="MONDO:equivalentTo"} @@ -465854,11 +465946,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0020772 name: epilepsy, juvenile absence, susceptibility to, 1 -synonym: "EJA1" EXACT ABBREVIATION [OMIM:607631] +synonym: "EJA1" EXACT ABBREVIATION [DOID:0111324, OMIM:607631] synonym: "EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1" EXACT [OMIM:607631] -synonym: "epilepsy, juvenile absence, susceptibility to, type 1" EXACT [OMIM:607631] -synonym: "JAE1" EXACT ABBREVIATION [OMIM:607631] -synonym: "susceptibility to juvenile absence epilepsy 1" EXACT [OMIM:607631] +synonym: "epilepsy, juvenile absence, susceptibility to, type 1" EXACT [] +synonym: "JAE1" EXACT ABBREVIATION [DOID:0111324, OMIM:607631] +synonym: "susceptibility to juvenile absence epilepsy 1" EXACT [] xref: DOID:0111324 {source="MONDO:equivalentTo"} xref: MEDGEN:413426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607631 {source="MONDO:equivalentTo"} @@ -465878,9 +465970,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0020773 name: cerebrospinal fluid rhinorrhea def: "Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)" [MESH:D002559] -synonym: "Cerebrospinal Fluid Rhinorrhea" RELATED [MESH:D002559, NCIT:C84627] +synonym: "Cerebrospinal Fluid Rhinorrhea" RELATED [MESH:D002559] synonym: "Cerebrospinal fluid rhinorrhea" RELATED [UMLS:C0007815] -synonym: "cerebrospinal fluid rhinorrhea" EXACT [] +synonym: "cerebrospinal fluid rhinorrhea" EXACT [NCIT:C84627] synonym: "Cerebrospinal Fluid Rhinorrhea, post Traumatic" RELATED [MESH:D002559] synonym: "Cerebrospinal Fluid Rhinorrhea, post-Traumatic" RELATED [MESH:D002559] synonym: "Cerebrospinal Fluid Rhinorrhea, Spontaneous" RELATED [MESH:D002559] @@ -465948,9 +466040,9 @@ id: MONDO:0020775 name: congenital disorder of glycosylation with defective fucosylation 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Cdgf" RELATED [OMIM:618005] -synonym: "CDGF1" RELATED ABBREVIATION [OMIM:618005] -synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1" RELATED [OMIM:618005] +synonym: "Cdgf" RELATED [] +synonym: "CDGF1" RELATED ABBREVIATION [] +synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1" RELATED [] xref: OMIM:618005 {source="MONDO:equivalentTo"} is_a: MONDO:0000001 {source="OMIM:618005"} ! disease is_a: MONDO:0060720 {source="OMIM:618005"} ! congenital disorder of glycosylation with defective fucosylation @@ -465978,8 +466070,8 @@ id: MONDO:0020777 name: congenital disorder of glycosylation with defective fucosylation 2 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CDGF2" RELATED ABBREVIATION [OMIM:618324] -synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2" RELATED [OMIM:618324] +synonym: "CDGF2" RELATED ABBREVIATION [] +synonym: "CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2" RELATED [] xref: MEDGEN:1676187 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618324 {source="MONDO:equivalentTo"} xref: UMLS:C5193028 {source="MEDGEN:1676187", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -465990,10 +466082,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0020778 name: cone-rod dystrophy and hearing loss 1 -synonym: "cone-rod dystrophy and hearing loss" BROAD [OMIM:617236, OMIM:genemap2] -synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 1" RELATED [OMIM:617236] -synonym: "Crdhl" RELATED [OMIM:617236] -synonym: "CRDHL1" RELATED ABBREVIATION [OMIM:617236] +synonym: "cone-rod dystrophy and hearing loss" BROAD [] +synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 1" RELATED [] +synonym: "Crdhl" RELATED [] +synonym: "CRDHL1" RELATED ABBREVIATION [] xref: MEDGEN:1682048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617236 {source="MONDO:equivalentTo"} xref: UMLS:C5193018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682048"} @@ -466023,8 +466115,8 @@ relationship: disease_has_location UBERON:0002418 ! cartilage tissue [Term] id: MONDO:0020780 name: cone-rod dystrophy and hearing loss 2 -synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 2" RELATED [OMIM:618358] -synonym: "CRDHL2" RELATED ABBREVIATION [OMIM:618358] +synonym: "CONE-ROD DYSTROPHY AND HEARING LOSS 2" RELATED [] +synonym: "CRDHL2" RELATED ABBREVIATION [] xref: MEDGEN:1675017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618358 {source="MONDO:equivalentTo"} xref: UMLS:C5193051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675017"} @@ -466040,11 +466132,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:555407"} subset: orphanet_rare {source="Orphanet:555407"} subset: rare -synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" BROAD [OMIM:617186, OMIM:genemap2] -synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1" RELATED [OMIM:617186] +synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" BROAD [] +synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1" RELATED [] synonym: "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy" BROAD OMO:0003005 [] synonym: "NAD(P)HX epimerase deficiency" EXACT [Orphanet:555407] -synonym: "PEBEL1" RELATED ABBREVIATION [OMIM:617186] +synonym: "PEBEL1" RELATED ABBREVIATION [] xref: GARD:17991 {source="MONDO:GARD"} xref: MEDGEN:934642 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617186 {source="MONDO:equivalentTo"} @@ -466062,9 +466154,9 @@ id: MONDO:0020782 name: chronic gingivitis def: "Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth." [NCIT:C34474] subset: otar {source="MONDO:OTAR"} -synonym: "Chronic Gingivitis" RELATED [NCIT:C34474] +synonym: "Chronic Gingivitis" RELATED [] synonym: "Chronic gingivitis" RELATED [UMLS:C0008684] -synonym: "chronic gingivitis" EXACT [NCIT:C34474] +synonym: "chronic gingivitis" EXACT [icd11.foundation:1542018172, NCIT:C34474] xref: icd11.foundation:1542018172 {source="MONDO:equivalentTo"} xref: ICD9:523.1 xref: ICD9:523.10 @@ -466084,12 +466176,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:90307"} subset: orphanet_rare {source="Orphanet:90307"} subset: rare -synonym: "Capillary Malformation-Arteriovenous Malformation" BROAD [OMIM:608354] +synonym: "Capillary Malformation-Arteriovenous Malformation" BROAD [] synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1" EXACT [OMIM:608354] -synonym: "capillary malformation-arteriovenous malformation 1" EXACT CLINGEN_LABEL [] +synonym: "capillary malformation-arteriovenous malformation 1" EXACT CLINGEN_LABEL [OMIM:608354] synonym: "CMAVM1" EXACT ABBREVIATION [OMIM:608354] -synonym: "Parkes Weber syndrome" EXACT [MONDO:0012017, OMIM:608355] -synonym: "PKWS" EXACT ABBREVIATION [OMIM:608355] +synonym: "Parkes Weber syndrome" EXACT [MONDO:0012017, Orphanet:90307] +synonym: "PKWS" EXACT ABBREVIATION [] xref: GARD:9787 {source="MONDO:GARD"} xref: ICD10CM:Q87.2 {source="Orphanet:90307/attributed", source="Orphanet:90307/ntbt", source="Orphanet:90307"} xref: ICD9:759.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -466112,10 +466204,10 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9787/parkes- [Term] id: MONDO:0020784 name: obsolete short sleep, familial natural, 1 -synonym: "FNSS1" RELATED ABBREVIATION [OMIM:612975] -synonym: "Short Sleep Phenotype" RELATED [OMIM:612975] -synonym: "SHORT SLEEP, FAMILIAL NATURAL, 1" RELATED [OMIM:612975] -synonym: "short sleep, familial natural, 1" EXACT [OMIM:612975, OMIM:genemap2] +synonym: "FNSS1" RELATED ABBREVIATION [] +synonym: "Short Sleep Phenotype" RELATED [] +synonym: "SHORT SLEEP, FAMILIAL NATURAL, 1" RELATED [] +synonym: "short sleep, familial natural, 1" EXACT [] xref: OMIM:612975 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -466126,8 +466218,8 @@ name: capillary malformation-arteriovenous malformation 2 subset: gard_rare {source="GARD:16307", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2" RELATED [OMIM:618196] -synonym: "CMAVM2" RELATED ABBREVIATION [OMIM:618196] +synonym: "CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2" RELATED [] +synonym: "CMAVM2" RELATED ABBREVIATION [] xref: GARD:16307 {source="MONDO:GARD"} xref: MEDGEN:1648502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618196 {source="MONDO:equivalentTo"} @@ -466141,9 +466233,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0020786 name: obsolete short sleep, familial natural, 2 -synonym: "FNSS2" RELATED ABBREVIATION [OMIM:618591] -synonym: "SHORT SLEEP, FAMILIAL NATURAL, 2" RELATED [OMIM:618591] -synonym: "short sleep, familial natural, 2" EXACT [OMIM:618591, OMIM:genemap2] +synonym: "FNSS2" RELATED ABBREVIATION [] +synonym: "SHORT SLEEP, FAMILIAL NATURAL, 2" RELATED [] +synonym: "short sleep, familial natural, 2" EXACT [] xref: OMIM:618591 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -466154,9 +466246,9 @@ name: hypomagnesemia, seizures, and intellectual disability 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HOMGSMR1" RELATED ABBREVIATION [OMIM:616418] -synonym: "hypomagnesemia, seizures, and mental retardation" BROAD [OMIM:616418, OMIM:genemap2] -synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1" RELATED [OMIM:616418] +synonym: "HOMGSMR1" RELATED ABBREVIATION [] +synonym: "hypomagnesemia, seizures, and mental retardation" BROAD [] +synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1" RELATED [] xref: MEDGEN:906582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616418 {source="MONDO:equivalentTo"} xref: Orphanet:34527 {source="OMIM:616418"} @@ -466171,8 +466263,8 @@ name: hypomagnesemia, seizures, and intellectual disability 2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HOMGSMR2" RELATED ABBREVIATION [OMIM:618314] -synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2" RELATED [OMIM:618314] +synonym: "HOMGSMR2" RELATED ABBREVIATION [] +synonym: "HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2" RELATED [] xref: MEDGEN:1675904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618314 {source="MONDO:equivalentTo"} xref: UMLS:C5193023 {source="MEDGEN:1675904", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -466184,9 +466276,9 @@ id: MONDO:0020789 name: pseudo-TORCH syndrome 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "pseudo-TORCH syndrome" BROAD [OMIM:251290] -synonym: "pseudo-TORCH syndrome 1" EXACT CLINGEN_LABEL [DOID:0050656, OMIM:251290] -synonym: "pseudo-TORCH syndrome type 1" EXACT [DOID:0050656, MONDORULE:1] +synonym: "pseudo-TORCH syndrome" BROAD [] +synonym: "pseudo-TORCH syndrome 1" EXACT CLINGEN_LABEL [OMIM:251290] +synonym: "pseudo-TORCH syndrome type 1" EXACT [MONDORULE:1] synonym: "PTORCH1" EXACT ABBREVIATION [OMIM:251290] xref: MEDGEN:1639355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:251290 {source="MONDO:equivalentTo"} @@ -466203,10 +466295,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "gaze palsy, familial horizontal, with progressive scoliosis 1" EXACT CLINGEN_LABEL [OMIM:607313] -synonym: "gaze palsy, familial horizontal, with progressive scoliosis, 1" EXACT [OMIM:607313, OMIM:genemap2] +synonym: "gaze palsy, familial horizontal, with progressive scoliosis, 1" EXACT [] synonym: "HGPPS" EXACT ABBREVIATION [OMIM:607313] synonym: "HGPPS1" EXACT ABBREVIATION [OMIM:607313] -synonym: "Ophthalmoplegia, Progressive External, and Scoliosis" RELATED [OMIM:607313] +synonym: "Ophthalmoplegia, Progressive External, and Scoliosis" RELATED [] xref: MEDGEN:1647423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607313 {source="MONDO:equivalentTo"} xref: Orphanet:2744 {source="OMIM:607313"} @@ -466222,12 +466314,12 @@ name: corneal dystrophy, Meesmann, 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Corneal Dystrophy, Juvenile Epithelial, of Meesmann" RELATED [OMIM:122100] -synonym: "Corneal Dystrophy, Meesmann Epithelial" RELATED [OMIM:122100] -synonym: "CORNEAL DYSTROPHY, MEESMANN, 1" RELATED [OMIM:122100] -synonym: "MECD1" RELATED ABBREVIATION [OMIM:122100] -synonym: "Meesmann Corneal Dystrophy" RELATED [OMIM:122100] -synonym: "meesmann corneal dystrophy 1" EXACT [OMIM:122100, OMIM:genemap2] +synonym: "Corneal Dystrophy, Juvenile Epithelial, of Meesmann" RELATED [] +synonym: "Corneal Dystrophy, Meesmann Epithelial" RELATED [] +synonym: "CORNEAL DYSTROPHY, MEESMANN, 1" RELATED [] +synonym: "MECD1" RELATED ABBREVIATION [] +synonym: "Meesmann Corneal Dystrophy" RELATED [] +synonym: "meesmann corneal dystrophy 1" EXACT [DOID:0080670] xref: DOID:0080670 {source="MONDO:equivalentTo"} xref: MEDGEN:1684668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:122100 {source="MONDO:equivalentTo"} @@ -466255,8 +466347,8 @@ subset: gard_rare {source="GARD:15097", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" EXACT [OMIM:164310] -synonym: "oculopharyngodistal myopathy" BROAD [OMIM:164310] -synonym: "oculopharyngodistal myopathy 1" EXACT [OMIM:164310] +synonym: "oculopharyngodistal myopathy" BROAD [] +synonym: "oculopharyngodistal myopathy 1" EXACT [DOID:0081297, OMIM:164310] synonym: "OPDM1" EXACT ABBREVIATION [OMIM:164310] xref: DOID:0081297 {source="MONDO:equivalentTo"} xref: GARD:15097 {source="MONDO:GARD"} @@ -466286,7 +466378,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "SILVER-RUSSELL SYNDROME 5" EXACT [OMIM:618908] -synonym: "Silver-Russell syndrome 5" EXACT CLINGEN_LABEL [] +synonym: "Silver-Russell syndrome 5" EXACT CLINGEN_LABEL [OMIM:618908] synonym: "SRS5" EXACT ABBREVIATION [OMIM:618908] xref: GARD:18465 {source="MONDO:GARD"} xref: MEDGEN:1713787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -466301,7 +466393,7 @@ name: Silver-Russell syndrome 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SRS1" EXACT ABBREVIATION [] +synonym: "SRS1" EXACT ABBREVIATION [OMIM:180860] xref: MEDGEN:1718472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:180860 {source="MONDO:equivalentTo"} xref: UMLS:C5393125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1718472"} @@ -466350,7 +466442,7 @@ subset: gard_rare {source="GARD:18257", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FIH2" EXACT ABBREVIATION [OMIM:618883] -synonym: "hypoparathyroidism, familial isolated 2" EXACT [OMIM:618883, OMIM:genemap2] +synonym: "hypoparathyroidism, familial isolated 2" EXACT [] synonym: "hypoparathyroidism, familial isolated, 2" EXACT [OMIM:618883] xref: GARD:18257 {source="MONDO:GARD"} xref: MEDGEN:1715177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -466440,7 +466532,7 @@ def: "A carcinoma involving the basal cells." [NCIT:C156767] subset: otar {source="MONDO:OTAR"} synonym: "basal cell cancer" EXACT [] synonym: "epithelioma, basal cell" EXACT [MESH:D002280] -synonym: "malignant basal cell neoplasm" EXACT [NCIT:C7586] +synonym: "malignant basal cell neoplasm" EXACT [NCIT:C156767] synonym: "rodent ulcer" RELATED EXCLUDE [MESH:D002280] synonym: "ulcer, rodent" RELATED EXCLUDE [MESH:D002280] xref: EFO:0004193 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -466499,14 +466591,14 @@ def: "A sex cord-stromal tumor that arises from the testis and is characterized subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Sertoli Cell Neoplasm of Testis" EXACT [] -synonym: "Sertoli Cell Neoplasm of the Testis" EXACT [] -synonym: "Sertoli Cell Tumor of Testis" EXACT [] -synonym: "Sertoli Cell Tumor of the Testis" EXACT [] +synonym: "Sertoli Cell Neoplasm of Testis" EXACT [NCIT:C4672] +synonym: "Sertoli Cell Neoplasm of the Testis" EXACT [NCIT:C4672] +synonym: "Sertoli Cell Tumor of Testis" EXACT [NCIT:C4672] +synonym: "Sertoli Cell Tumor of the Testis" EXACT [NCIT:C4672] synonym: "Sertoli Cell Tumour of Testis" EXACT OMO:0003005 [] synonym: "Sertoli Cell Tumour of the Testis" EXACT OMO:0003005 [] -synonym: "Testicular Sertoli Cell Neoplasm" EXACT [] -synonym: "Testicular Sertoli Cell Tumor" EXACT [] +synonym: "Testicular Sertoli Cell Neoplasm" EXACT [NCIT:C4672] +synonym: "Testicular Sertoli Cell Tumor" EXACT [NCIT:C4672] synonym: "Testicular Sertoli Cell Tumor, NOS" EXACT [] synonym: "Testicular Sertoli Cell Tumor, Not Otherwise Specified" EXACT [] synonym: "Testicular Sertoli Cell Tumour" EXACT OMO:0003005 [] @@ -466522,10 +466614,10 @@ intersection_of: disease_arises_from_structure UBERON:0000473 ! testis id: MONDO:0020809 name: benign sertoli cell tumor def: "A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site." [NCIT:P378] -synonym: "Benign Androblastoma" EXACT [] -synonym: "Benign Sertoli Cell Tumor" EXACT [] +synonym: "Benign Androblastoma" EXACT [NCIT:C67012] +synonym: "Benign Sertoli Cell Tumor" EXACT [NCIT:C67012] synonym: "Benign Sertoli Cell Tumour" EXACT OMO:0003005 [] -synonym: "SERTOLI CELL TUMOR, BENIGN" EXACT [] +synonym: "SERTOLI CELL TUMOR, BENIGN" EXACT [NCIT:C67012] xref: ICDO:8630/0 {source="NCIT:C67012"} xref: MEDGEN:361204 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C67012 {source="MONDO:equivalentTo"} @@ -466674,8 +466766,8 @@ subset: gard_rare {source="GARD:9909", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "arthrogryposis, distal, type 2B1" EXACT [OMIM:601680, OMIM:genemap2] -synonym: "DA2B1" EXACT ABBREVIATION [DOID:0111600] +synonym: "arthrogryposis, distal, type 2B1" EXACT [OMIM:601680] +synonym: "DA2B1" EXACT ABBREVIATION [DOID:0111600, OMIM:601680] xref: DOID:0111600 {source="MONDO:equivalentTo"} xref: GARD:9909 {source="MONDO:GARD"} xref: MEDGEN:1676961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -466701,7 +466793,7 @@ name: diaphragmitis subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "diaphragmatitis" EXACT [UMLS:C0011985] -synonym: "diaphragmitis" EXACT [UMLS:C0011985] +synonym: "diaphragmitis" EXACT [icd11.foundation:1124735890, UMLS:C0011985] xref: icd11.foundation:1124735890 {source="MONDO:equivalentTo"} xref: MEDGEN:507638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:73160007 {source="MONDO:equivalentTo", source="UMLS:C0011985"} @@ -466762,7 +466854,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:209850"} ! inheri id: MONDO:0020837 name: oocyte maturation defect 5 synonym: "oocyte maturation defect 5" EXACT [OMIM:617996] -synonym: "OOMD5" EXACT ABBREVIATION [OMIM:617996] +synonym: "OOMD5" EXACT ABBREVIATION [] xref: MEDGEN:1644330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617996 {source="MONDO:equivalentTo"} xref: UMLS:C4693865 {source="MEDGEN:1644330", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -466775,7 +466867,7 @@ name: anterior nasal diphtheria def: "Infection of the anterior nasal structures by Corynebacterium diphtheriae." [NCIT:C34542] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Anterior Nasal Diphtheria" RELATED [NCIT:C34542] +synonym: "Anterior Nasal Diphtheria" RELATED [] synonym: "Anterior nasal diphtheria" RELATED [UMLS:C0012553] synonym: "anterior nasal diphtheria" EXACT [NCIT:C34542] xref: ICD9:032.2 @@ -466790,7 +466882,7 @@ id: MONDO:0020840 name: pulmonary alveolar proteinosis with hypogammaglobulinemia def: "A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:618042, PMID:29455859] synonym: "immunodeficiency (due to OAS1 gain-of-function variant) with pulmonary alveolar proteinosis and hypogammaglobulinemia" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X] -synonym: "PAPHG" EXACT ABBREVIATION [OMIM:618042] +synonym: "PAPHG" EXACT ABBREVIATION [] synonym: "pulmonary alveolar proteinosis with hypogammaglobulinemia" EXACT [OMIM:618042] xref: MEDGEN:1648298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618042 {source="MONDO:equivalentTo"} @@ -466849,7 +466941,7 @@ name: progressive external ophthalmoplegia with mitochondrial DNA deletions, aut subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PEOB5" EXACT ABBREVIATION [OMIM:618098] +synonym: "PEOB5" EXACT ABBREVIATION [DOID:0111524, OMIM:618098] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5" EXACT [OMIM:618098] synonym: "progressive external ophthalmoplegia, autosomal recessive 5" EXACT [OMIM:618098] xref: DOID:0111524 {source="MONDO:equivalentTo"} @@ -466910,9 +467002,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0020849 name: immunodeficiency 57 -synonym: "IMD57" EXACT ABBREVIATION [OMIM:618108] -synonym: "IMMUNODEFICIENCY 57" EXACT [OMIM:618108] -synonym: "immunodeficiency 57 with autoinflammation" EXACT [OMIM:618108, OMIM:genemap2] +synonym: "IMD57" EXACT ABBREVIATION [DOID:0111952, OMIM:618108] +synonym: "IMMUNODEFICIENCY 57" EXACT [DOID:0111952] +synonym: "immunodeficiency 57 with autoinflammation" EXACT [DOID:0111952, OMIM:618108] xref: DOID:0111952 {source="MONDO:equivalentTo"} xref: MEDGEN:1648306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618108 {source="MONDO:equivalentTo"} @@ -466928,7 +467020,7 @@ subset: gard_rare {source="GARD:22578", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability, autosomal recessive 65" EXACT [OMIM:618109] +synonym: "intellectual disability, autosomal recessive 65" EXACT [] synonym: "mental retardation, autosomal recessive 65" EXACT DEPRECATED [OMIM:618109] synonym: "MRT65" EXACT DEPRECATED [OMIM:618109] xref: DOID:0081226 {source="MONDO:equivalentTo"} @@ -466944,8 +467036,8 @@ id: MONDO:0020851 name: spermatogenic failure 30 subset: gard_rare {source="GARD:16291", source="MONDO:GARD"} subset: rare -synonym: "spermatogenic failure 30" EXACT [OMIM:618110] -synonym: "SPGF30" EXACT ABBREVIATION [OMIM:618110] +synonym: "spermatogenic failure 30" EXACT [DOID:0111913, OMIM:618110] +synonym: "SPGF30" EXACT ABBREVIATION [DOID:0111913, OMIM:618110] xref: DOID:0111913 {source="MONDO:equivalentTo"} xref: GARD:16291 {source="MONDO:GARD"} xref: MEDGEN:1648394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -466957,8 +467049,8 @@ is_a: MONDO:0004983 {source="DOID:0111913", source="OMIM:618110", source="https: id: MONDO:0020852 name: spermatogenic failure 31 subset: otar {source="MONDO:OTAR"} -synonym: "spermatogenic failure 31" EXACT [OMIM:618112] -synonym: "SPGF31" EXACT ABBREVIATION [OMIM:618112] +synonym: "spermatogenic failure 31" EXACT [DOID:0111922, OMIM:618112] +synonym: "SPGF31" EXACT ABBREVIATION [DOID:0111922, OMIM:618112] xref: DOID:0111922 {source="MONDO:equivalentTo"} xref: MEDGEN:1648419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618112 {source="MONDO:equivalentTo"} @@ -467005,8 +467097,8 @@ id: MONDO:0020855 name: spermatogenic failure 32 subset: gard_rare {source="GARD:16292", source="MONDO:GARD"} subset: rare -synonym: "spermatogenic failure 32" EXACT [OMIM:618115] -synonym: "SPGF32" EXACT ABBREVIATION [OMIM:618115] +synonym: "spermatogenic failure 32" EXACT [DOID:0111925, OMIM:618115] +synonym: "SPGF32" EXACT ABBREVIATION [DOID:0111925, OMIM:618115] xref: DOID:0111925 {source="MONDO:equivalentTo"} xref: GARD:16292 {source="MONDO:GARD"} xref: MEDGEN:1648444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -467036,7 +467128,7 @@ subset: gard_rare {source="GARD:18043", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ODG7" EXACT ABBREVIATION [OMIM:618117] -synonym: "OVARIAN DYSGENESIS 7" EXACT [OMIM:618117] +synonym: "OVARIAN DYSGENESIS 7" EXACT [DOID:0080499, OMIM:618117] xref: DOID:0080499 {source="MONDO:equivalentTo"} xref: GARD:18043 {source="MONDO:GARD"} xref: MEDGEN:1648458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -467051,10 +467143,10 @@ name: mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 subset: gard_rare {source="GARD:18670", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC5DN5" EXACT ABBREVIATION [OMIM:618120] +synonym: "MC5DN5" EXACT ABBREVIATION [DOID:0070463, OMIM:618120] synonym: "Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type" EXACT [OMIM:618120] -synonym: "mitochondrial complex v (atp synthase) deficiency" EXACT [OMIM:618120, OMIM:genemap2] -synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5" EXACT [OMIM:618120] +synonym: "mitochondrial complex v (atp synthase) deficiency" EXACT [] +synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5" EXACT [] xref: DOID:0070463 {source="MONDO:equivalentTo"} xref: GARD:18670 {source="MONDO:GARD"} xref: MEDGEN:1648429 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -467074,7 +467166,7 @@ synonym: "Diphtheritic membrane" RELATED [UMLS:C0012556] synonym: "diphtheritic membrane" RELATED [] synonym: "Diphtheritic membranous angina" RELATED [UMLS:C0012556] synonym: "diphtheritic membranous angina" RELATED [] -synonym: "Faucial Diphtheria" RELATED [NCIT:C34545] +synonym: "Faucial Diphtheria" RELATED [] synonym: "Faucial diphtheria" RELATED [UMLS:C0012556] synonym: "faucial diphtheria" EXACT [NCIT:C34545] xref: ICD9:032.0 @@ -467093,9 +467185,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Diphtheritic laryngotracheitis" RELATED [UMLS:C0012557] synonym: "diphtheritic laryngotracheitis" RELATED [] -synonym: "Laryngeal Diphtheria" RELATED [NCIT:C34546] +synonym: "Laryngeal Diphtheria" RELATED [] synonym: "Laryngeal diphtheria" RELATED [UMLS:C0012557] -synonym: "laryngeal diphtheria" EXACT [NCIT:C34546] +synonym: "laryngeal diphtheria" EXACT [icd11.foundation:1101542926, NCIT:C34546] xref: icd11.foundation:1101542926 {source="MONDO:equivalentTo"} xref: ICD9:032.3 xref: MEDGEN:4336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -467113,7 +467205,7 @@ name: nasopharyngeal diphtheria def: "Infection of the nasopharynx by Corynebacterium diphtheriae." [NCIT:C34547] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Nasopharyngeal Diphtheria" RELATED [NCIT:C34547] +synonym: "Nasopharyngeal Diphtheria" RELATED [] synonym: "Nasopharyngeal diphtheria" RELATED [UMLS:C0012558] synonym: "nasopharyngeal diphtheria" EXACT [NCIT:C34547] xref: ICD9:032.1 @@ -467141,7 +467233,7 @@ synonym: "Bacterial infection caused by E. coli" RELATED [UMLS:C0014836] synonym: "Bacterial infection due to E. coli" RELATED [UMLS:C0014836] synonym: "Colibacillosis" RELATED [UMLS:C0014836] synonym: "E COLI INFECT" RELATED [MESH:D004927] -synonym: "E Coli Infection" RELATED [NCIT:C34594] +synonym: "E Coli Infection" RELATED [] synonym: "E coli Infection" RELATED [MESH:D004927] synonym: "e coli infection" EXACT [NCIT:C34594] synonym: "E coli Infections" RELATED [MESH:D004927] @@ -467151,7 +467243,7 @@ synonym: "E. coli Infection" RELATED [MESH:D004927] synonym: "E. coli infection" RELATED [UMLS:C0014836] synonym: "E. coli Infections" RELATED [MESH:D004927] synonym: "ESCHERICHIA COLI INFECT" RELATED [MESH:D004927] -synonym: "Escherichia Coli Infection" RELATED [NCIT:C34594] +synonym: "Escherichia Coli Infection" RELATED [] synonym: "Escherichia coli Infection" RELATED [MESH:D004927] synonym: "Escherichia coli infection" RELATED [UMLS:C0014836] synonym: "escherichia coli infection" EXACT [NCIT:C34594] @@ -467339,8 +467431,8 @@ id: MONDO:0020971 name: gonococcal urethritis def: "Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact." [NCIT:C26787] synonym: "gc urethritis" EXACT [NCIT:C26787] -synonym: "Gonococcal urethritis" RELATED [NCIT:C26787, UMLS:C0018078] -synonym: "gonococcal urethritis" EXACT [NCIT:C26787] +synonym: "Gonococcal urethritis" RELATED [UMLS:C0018078] +synonym: "gonococcal urethritis" EXACT [icd11.foundation:684710834, NCIT:C26787] xref: icd11.foundation:684710834 {source="MONDO:equivalentTo"} xref: MEDGEN:42278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C26787 {source="UMLS:C0018078", source="MONDO:equivalentTo"} @@ -467359,7 +467451,7 @@ def: "A tumor-like nodule or mass of inflammatory granulation tissue projecting synonym: "Granuloma of Larynx" RELATED [MESH:D006102] synonym: "Granuloma, Laryngeal" RELATED [MESH:D006102] synonym: "Granulomas, Laryngeal" RELATED [MESH:D006102] -synonym: "Laryngeal Granuloma" RELATED [MESH:D006102, NCIT:C3068] +synonym: "Laryngeal Granuloma" RELATED [MESH:D006102] synonym: "Laryngeal granuloma" RELATED [UMLS:C0018196] synonym: "laryngeal granuloma" EXACT [] synonym: "Laryngeal Granulomas" RELATED [MESH:D006102] @@ -467377,9 +467469,9 @@ is_a: MONDO:0004382 {source="MESH:D006102"} ! laryngeal disorder id: MONDO:0020977 name: granulomatous prostatitis def: "An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue." [NCIT:C26789] -synonym: "Granulomatous Prostatitis" RELATED [NCIT:C26789] +synonym: "Granulomatous Prostatitis" RELATED [] synonym: "Granulomatous prostatitis" RELATED [UMLS:C0018204] -synonym: "granulomatous prostatitis" EXACT [NCIT:C26789] +synonym: "granulomatous prostatitis" EXACT [icd11.foundation:66037326, NCIT:C26789] xref: icd11.foundation:66037326 {source="MONDO:equivalentTo"} xref: ICD9:601.8 xref: MEDGEN:42294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -467392,7 +467484,7 @@ is_a: MONDO:0005280 {source="NCIT:C26789", source="UMLS:C0018204"} ! prostatitis id: MONDO:0020979 name: pilosebaceous hamartoma def: "A hamartoma characterized by localized pilosebaceous apparatus malformation." [NCIT:C5565] -synonym: "pilosebaceous hamartoma" EXACT [NCIT:C5565] +synonym: "pilosebaceous hamartoma" EXACT [icd11.foundation:59912591, NCIT:C5565] xref: icd11.foundation:59912591 {source="MONDO:equivalentTo"} xref: MEDGEN:277515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5565 {source="MONDO:equivalentTo"} @@ -467421,12 +467513,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Cardiac Free Wall Rupture" RELATED [MESH:D006341] -synonym: "Cardiac Rupture" RELATED [MESH:D006341, NCIT:C34668] +synonym: "Cardiac Rupture" RELATED [MESH:D006341] synonym: "Cardiac Ruptures" RELATED [MESH:D006341] synonym: "Free Wall Rupture, Heart" RELATED [MESH:D006341] synonym: "Heart Rupture" RELATED [MESH:D006341] synonym: "Heart Ruptures" RELATED [MESH:D006341] -synonym: "Myocardial Rupture" RELATED [NCIT:C34668] +synonym: "Myocardial Rupture" RELATED [] synonym: "Rupture of heart" RELATED [UMLS:C0018813] synonym: "Ventricular Free Wall Rupture" RELATED [MESH:D006341] xref: MEDGEN:6750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -467449,7 +467541,7 @@ synonym: "Haemoglobin F Disease" RELATED OMO:0003005 [] synonym: "Hb F disease" RELATED [UMLS:C0019025] synonym: "HEMOGLOBIN F DIS" RELATED [MESH:D017086] synonym: "Hemoglobin F Disease" RELATED [MESH:D017086] -synonym: "Hereditary Persistence of Fetal Hemoglobin" RELATED [NCIT:C129072] +synonym: "Hereditary Persistence of Fetal Hemoglobin" RELATED [] synonym: "Hereditary persistence of fetal hemoglobin" RELATED [UMLS:C0019025] synonym: "hereditary persistence of fetal hemoglobin" EXACT [NCIT:C129072] synonym: "Hereditary Persistence of Foetal Haemoglobin" RELATED OMO:0003005 [] @@ -467479,18 +467571,18 @@ def: "Hemochromatosis type 1 (classic) is the most common form of hereditary hem subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "C282Y/C282Y hemochromatosis" EXACT [EFO:0006513, Orphanet:139498] -synonym: "classic hemochromatosis" EXACT [EFO:0006513, Orphanet:139498] -synonym: "hemochromatosis" EXACT [OMIM:235200, OMIM:genemap2] -synonym: "hemochromatosis type 1" EXACT CLINGEN_LABEL [] +synonym: "C282Y/C282Y hemochromatosis" EXACT [EFO:0006513] +synonym: "classic hemochromatosis" EXACT [EFO:0006513] +synonym: "hemochromatosis" EXACT [OMIM:235200] +synonym: "hemochromatosis type 1" EXACT CLINGEN_LABEL [DOID:0111029] synonym: "hemochromatosis, type 1" EXACT [OMIM:235200] -synonym: "hfe hemochromatosis, modifier of" EXACT [OMIM:235200, OMIM:genemap2] -synonym: "HFE-associated hereditary hemochromatosis" EXACT [EFO:0006513] -synonym: "HFE-related hemochromatosis" EXACT [EFO:0006513, Orphanet:139498] +synonym: "hfe hemochromatosis, modifier of" EXACT [] +synonym: "HFE-associated hereditary hemochromatosis" EXACT [EFO:0006513, NCIT:C84764] +synonym: "HFE-related hemochromatosis" EXACT [EFO:0006513] synonym: "HFE1" EXACT ABBREVIATION [DOID:0111029, MONDO:Lexical, OMIM:235200] -synonym: "symptomatic form of classic hemochromatosis" NARROW [DOID:0111029, Orphanet:465508] +synonym: "symptomatic form of classic hemochromatosis" NARROW [] synonym: "symptomatic form of hemochromatosis type 1" EXACT [DOID:0111029] -synonym: "symptomatic form of HFE-related hereditary hemochromatosis" NARROW [DOID:0111029, Orphanet:465508] +synonym: "symptomatic form of HFE-related hereditary hemochromatosis" NARROW [] xref: DOID:0111029 {source="MONDO:equivalentTo"} xref: EFO:0006513 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:E83.1 {source="DOID:0111029", source="Orphanet:220489", source="Orphanet:465508"} @@ -467551,9 +467643,9 @@ def: "A disease characterized by the presence of polydactyly, including syndromi subset: otar {source="MONDO:OTAR"} synonym: "hyperdactyly" EXACT [NCIT:C87110] synonym: "polydactylism" EXACT [NCIT:C87110] -synonym: "polydactyly" EXACT [MONDO:ambiguous, OMIM:603596] +synonym: "polydactyly" EXACT [DOID:1148, MONDO:ambiguous, NCIT:C87110, OMIM:603596] synonym: "polydactyly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "postaxial polydactyly" RELATED [DOID:1148] +synonym: "postaxial polydactyly" RELATED [] synonym: "supernumerary digit" RELATED [DOID:1148] xref: DOID:1148 {source="MONDO:equivalentTo"} xref: HP:0010442 {source="MONDO:otherHierarchy"} @@ -467591,7 +467683,7 @@ id: MONDO:0021004 name: brachydactyly def: "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms." [https://orcid.org/0000-0002-6601-2165] subset: otar {source="MONDO:OTAR"} -synonym: "brachydactyly" EXACT [DOID:0050581] +synonym: "brachydactyly" EXACT [DOID:0050581, icd11.foundation:598200019] synonym: "brachydactyly (disease)" EXACT [https://orcid.org/0000-0002-6601-2165] xref: DOID:0050581 {source="MONDO:equivalentTo"} xref: HP:0001156 {source="MONDO:otherHierarchy"} @@ -467658,7 +467750,7 @@ subset: rare synonym: "mucoepidermoid carcinoma of salivary gland" EXACT [NCIT:C5908] synonym: "mucoepidermoid carcinoma of the salivary gland" EXACT [NCIT:C5908] synonym: "saliva-secreting gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/location] -synonym: "salivary gland mucoepidermoid carcinoma" EXACT [NCIT:C5908] +synonym: "salivary gland mucoepidermoid carcinoma" EXACT [DOID:0081293, NCIT:C5908] xref: DOID:0081293 {source="MONDO:equivalentTo"} xref: MEDGEN:277630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C5908 {source="MONDO:equivalentTo", source="MONDO:exact-label-match"} @@ -467694,10 +467786,10 @@ name: hereditary progressive chorea without dementia subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BCH" RELATED ABBREVIATION [OMIM:118700] +synonym: "BCH" RELATED ABBREVIATION [] synonym: "BHC" EXACT ABBREVIATION [OMIM:118700] synonym: "chorea, benign hereditary" EXACT [OMIM:118700] -synonym: "chorea, hereditary benign" EXACT [OMIM:118700, OMIM:genemap2] +synonym: "chorea, hereditary benign" EXACT [] synonym: "hereditary progressive chorea without dementia" EXACT [OMIM:118700] xref: MEDGEN:98278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:118700 {source="MONDO:equivalentTo", source="EFO:0004152", source="Orphanet:1429"} @@ -467732,17 +467824,17 @@ def: "A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, subset: gard_rare {source="GARD:5271", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Amish brittle hair brain syndrome" RELATED [OMIM:234050] -synonym: "BIDS syndrome" RELATED [OMIM:234050] -synonym: "hair-brain syndrome" RELATED [OMIM:234050] +synonym: "Amish brittle hair brain syndrome" RELATED [] +synonym: "BIDS syndrome" RELATED [] +synonym: "hair-brain syndrome" RELATED [] synonym: "MPLKIP nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "nonphotosensitive trichothiodystrophy" RELATED [DOID:0050528] +synonym: "nonphotosensitive trichothiodystrophy" RELATED [] synonym: "nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP" EXACT [MONDO:design_pattern] synonym: "Pollitt syndrome" EXACT [OMIM:234050] -synonym: "trichothiodystrophy 4, nonphotosensitive" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:234050] -synonym: "trichothiodystrophy, nonphotosensitive 1" RELATED [OMIM:234050] -synonym: "trichothiodystrophy-neurocutaneous syndrome" RELATED [OMIM:234050] -synonym: "TTD4" EXACT ABBREVIATION [OMIM:234050] +synonym: "trichothiodystrophy 4, nonphotosensitive" EXACT CLINGEN_LABEL [MONDO:Lexical, NCIT:C146899, OMIM:234050] +synonym: "trichothiodystrophy, nonphotosensitive 1" RELATED [] +synonym: "trichothiodystrophy-neurocutaneous syndrome" RELATED [] +synonym: "TTD4" EXACT ABBREVIATION [DOID:0050528, OMIM:234050] xref: DOID:0050528 {source="MONDO:equivalentTo"} xref: GARD:5271 {source="MONDO:GARD"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -467794,20 +467886,20 @@ subset: orphanet_rare {source="Orphanet:34516"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant limb-girdle muscular dystrophy type 1D" RELATED [Orphanet:34516] -synonym: "autosomal dominant limb-girdle muscular dystrophy type 1E" RELATED DEPRECATED [DOID:0110305] +synonym: "autosomal dominant limb-girdle muscular dystrophy type 1D" RELATED [] +synonym: "autosomal dominant limb-girdle muscular dystrophy type 1E" RELATED DEPRECATED [] synonym: "DNAJB6 autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LGMD1D" EXACT ABBREVIATION [Orphanet:34516] +synonym: "LGMD1D" EXACT ABBREVIATION [DOID:0110305, Orphanet:34516] synonym: "LGMD1D (DNAJB6)" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "LGMD1E" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, MONDO:Lexical, OMIM:603511] -synonym: "LGMD1E (Bushby and Beckmann, 2003)" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, OMIM:603511] +synonym: "LGMD1E" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, MONDO:Lexical] +synonym: "LGMD1E (Bushby and Beckmann, 2003)" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/] synonym: "limb-girdle muscular dystrophy type 1D" RELATED [GARD:0012528] -synonym: "muscular dystrophy limb-girdle type 1D" RELATED [DOID:0110305] -synonym: "muscular dystrophy limb-girdle type 1E" RELATED DEPRECATED [DOID:0110305] -synonym: "muscular dystrophy, limb-girdle, autosomal dominant 1" EXACT [OMIM:603511, OMIM:genemap2] -synonym: "muscular dystrophy, limb-girdle, type 1D" RELATED [OMIM:603511] -synonym: "muscular dystrophy, limb-girdle, type 1D, formerly" RELATED [OMIM:603511] -synonym: "muscular dystrophy, limb-girdle, type 1E" RELATED DEPRECATED [MONDO:Lexical, OMIM:603511] +synonym: "muscular dystrophy limb-girdle type 1D" RELATED [] +synonym: "muscular dystrophy limb-girdle type 1E" RELATED DEPRECATED [] +synonym: "muscular dystrophy, limb-girdle, autosomal dominant 1" EXACT [OMIM:603511] +synonym: "muscular dystrophy, limb-girdle, type 1D" RELATED [] +synonym: "muscular dystrophy, limb-girdle, type 1D, formerly" RELATED [] +synonym: "muscular dystrophy, limb-girdle, type 1E" RELATED DEPRECATED [MONDO:Lexical] xref: DOID:0110305 {source="MONDO:equivalentTo"} xref: GARD:12528 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:34516/attributed", source="Orphanet:34516/ntbt", source="DOID:0110305", source="Orphanet:34516", source="Orphanet:34517"} @@ -467832,14 +467924,14 @@ subset: ordo_disorder {source="Orphanet:54"} subset: orphanet_rare {source="Orphanet:54"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "albinism, ocular, type 1" RELATED [OMIM:300500] -synonym: "albinism, ocular, type I" RELATED [MONDO:Lexical, OMIM:300500] +synonym: "albinism, ocular, type 1" RELATED [] +synonym: "albinism, ocular, type I" RELATED [MONDO:Lexical] synonym: "Nettleship-Falls syndrome" EXACT [NCIT:C118785] -synonym: "Nettleship-Falls type ocular albinism" RELATED [OMIM:300500] -synonym: "OA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:300500, Orphanet:54] -synonym: "ocular albinism type 1" EXACT [Orphanet:54] -synonym: "ocular albinism, Nettleship-Falls type" EXACT [Orphanet:54] -synonym: "ocular albinism, type I, Nettleship-Falls type" EXACT [OMIM:300500, OMIM:genemap2] +synonym: "Nettleship-Falls type ocular albinism" RELATED [] +synonym: "OA1" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C118785, OMIM:300500, Orphanet:54] +synonym: "ocular albinism type 1" EXACT [icd11.foundation:846740259, NCIT:C118785, Orphanet:54] +synonym: "ocular albinism, Nettleship-Falls type" EXACT [icd11.foundation:846740259, Orphanet:54] +synonym: "ocular albinism, type I, Nettleship-Falls type" EXACT [] synonym: "X-linked ocular albinism" RELATED [GARD:0008471] synonym: "XLOA" EXACT ABBREVIATION [Orphanet:54] xref: GARD:8471 {source="MONDO:GARD"} @@ -467871,14 +467963,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:79234"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1" EXACT [Orphanet:79234] -synonym: "bilirubin-UGT deficiency type 1" EXACT [Orphanet:79234] +synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1" EXACT [icd11.foundation:1098453659, Orphanet:79234] +synonym: "bilirubin-UGT deficiency type 1" EXACT [icd11.foundation:1098453659, Orphanet:79234] synonym: "Crigler Najjar syndrome, type 1" RELATED [GARD:0000047] synonym: "Crigler-Najjar syndrome, type 1" EXACT [OMIM:218800] -synonym: "Crigler-Najjar syndrome, type I" EXACT [OMIM:218800] -synonym: "hereditary unconjugated hyperbilirubinemia type 1" EXACT [Orphanet:79234] +synonym: "Crigler-Najjar syndrome, type I" EXACT [] +synonym: "hereditary unconjugated hyperbilirubinemia type 1" EXACT [] synonym: "hyperbilirubinemia, Crigler-Najjar type 1" EXACT [OMIM:218800] -synonym: "UGT deficiency type 1" EXACT [Orphanet:79234] +synonym: "UGT deficiency type 1" EXACT [icd11.foundation:1098453659] xref: GARD:47 {source="MONDO:GARD"} xref: ICD10CM:E80.5 {source="Orphanet:205", source="Orphanet:79234/attributed", source="Orphanet:79234/ntbt", source="DOID:3803", source="Orphanet:79234"} xref: icd11.foundation:1098453659 {source="MONDO:equivalentTo"} @@ -467925,15 +468017,15 @@ subset: ordo_disorder {source="Orphanet:3197"} subset: orphanet_rare {source="Orphanet:3197"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital stiff man syndrome" EXACT [DOID:0060695, Orphanet:3197] -synonym: "familial startle disease" EXACT [DOID:0060695, Orphanet:3197] -synonym: "hereditary hyperekplexia" EXACT [DOID:0060695, MONDO:patterns/hereditary] -synonym: "hereditary hyperexplexia" EXACT [Orphanet:3197] -synonym: "hyperekplexia" BROAD [Orphanet:3197] +synonym: "congenital stiff man syndrome" EXACT [DOID:0060695, icd11.foundation:988250063, Orphanet:3197] +synonym: "familial startle disease" EXACT [DOID:0060695, icd11.foundation:988250063, Orphanet:3197] +synonym: "hereditary hyperekplexia" EXACT [DOID:0060695, icd11.foundation:988250063, MONDO:patterns/hereditary, Orphanet:3197] +synonym: "hereditary hyperexplexia" EXACT [icd11.foundation:988250063, Orphanet:3197] +synonym: "hyperekplexia" BROAD [] synonym: "hyperexplexia hereditary" RELATED [GARD:0003129] -synonym: "Kok disease" EXACT [DOID:0060695, Orphanet:3197] +synonym: "Kok disease" EXACT [DOID:0060695, icd11.foundation:988250063, Orphanet:3197] synonym: "startle disease" EXACT [DOID:0060695] -synonym: "Stiff baby syndrome" EXACT [Orphanet:3197] +synonym: "Stiff baby syndrome" EXACT [icd11.foundation:988250063, Orphanet:3197] xref: DOID:0060695 {source="MONDO:equivalentTo"} xref: GARD:3129 {source="MONDO:GARD"} xref: ICD10CM:G25.8 {source="DOID:0060695", source="Orphanet:3197/attributed", source="Orphanet:3197/ntbt", source="Orphanet:306773", source="Orphanet:3197"} @@ -467961,7 +468053,7 @@ subset: orphanet_rare {source="Orphanet:99429"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "androgen insensitivity syndrome, complete" RELATED [GARD:0010597] -synonym: "CAIS" EXACT ABBREVIATION [Orphanet:99429] +synonym: "CAIS" EXACT ABBREVIATION [NCIT:C120191, Orphanet:99429] synonym: "complete androgen resistance syndrome" EXACT [Orphanet:99429] xref: DOID:0080775 {source="MONDO:equivalentTo"} xref: GARD:10597 {source="MONDO:GARD"} @@ -467979,16 +468071,16 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10597/comple id: MONDO:0021024 name: malaria, susceptibility to subset: predisposition -synonym: "malaria, cerebral, reduced risk of" EXACT [OMIM:611162, OMIM:genemap2] -synonym: "malaria, cerebral, resistance to" EXACT [OMIM:611162] -synonym: "malaria, cerebral, susceptibility to" EXACT [OMIM:611162] -synonym: "malaria, protection against" EXACT [OMIM:611162, OMIM:genemap2] -synonym: "malaria, resistance to" EXACT [OMIM:611162, OMIM:genemap2] -synonym: "malaria, Severe, resistance to" EXACT [OMIM:611162] -synonym: "malaria, Severe, susceptibility to" EXACT [OMIM:611162] +synonym: "malaria, cerebral, reduced risk of" EXACT [] +synonym: "malaria, cerebral, resistance to" EXACT [] +synonym: "malaria, cerebral, susceptibility to" EXACT [] +synonym: "malaria, protection against" EXACT [] +synonym: "malaria, resistance to" EXACT [] +synonym: "malaria, Severe, resistance to" EXACT [] +synonym: "malaria, Severe, susceptibility to" EXACT [] synonym: "malaria, susceptibility to" EXACT [OMIM:611162] -synonym: "malaria, vivax, protection against" EXACT [OMIM:611162, OMIM:genemap2] -synonym: "resistance to malaria due to G6PD deficiency" EXACT [OMIM:611162, OMIM:genemap2] +synonym: "malaria, vivax, protection against" EXACT [] +synonym: "resistance to malaria due to G6PD deficiency" EXACT [] xref: MEDGEN:370149 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611162 {source="MONDO:equivalentTo", source="Orphanet:673"} xref: UMLS:C1970028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:370149"} @@ -468002,7 +468094,7 @@ name: cirrhosis, familial, with antigenemia subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cirrhosis, familial" RELATED [OMIM:118900] +synonym: "cirrhosis, familial" RELATED [] xref: OMIM:118900 {source="MONDO:equivalentTo"} is_a: MONDO:0007329 {source="https://orcid.org/0000-0001-5208-3432"} ! cirrhosis, familial @@ -468013,7 +468105,7 @@ def: "An instance of epidermal appendage anomaly that is caused by a modificatio subset: gard_rare {source="GARD:20265", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:183447"} subset: rare -synonym: "genetic epidermal appendage anomaly" EXACT [MONDO:patterns/genetic] +synonym: "genetic epidermal appendage anomaly" EXACT [MONDO:patterns/genetic, Orphanet:183447] xref: GARD:20265 {source="MONDO:GARD"} xref: MEDGEN:1843118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:183447 {source="MONDO:0021027", source="MONDO:equivalentTo"} @@ -468051,7 +468143,7 @@ def: "An instance of sebaceous gland anomaly that is caused by a modification of subset: gard_rare {source="GARD:20268", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:183460"} subset: rare -synonym: "genetic sebaceous gland anomaly" EXACT [MONDO:patterns/genetic] +synonym: "genetic sebaceous gland anomaly" EXACT [MONDO:patterns/genetic, Orphanet:183460] xref: GARD:20268 {source="MONDO:GARD"} xref: MEDGEN:1843175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:183460 {source="MONDO:0021029", source="MONDO:equivalentTo"} @@ -468062,7 +468154,7 @@ is_a: MONDO:0021026 {source="MONDO:Redundant", source="Orphanet:183460"} ! hered id: MONDO:0021032 name: herpes zoster with dermatitis of eyelid def: "A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve." [NCIT:C34696] -synonym: "Herpes Zoster Dermatitis of Eyelid" RELATED [NCIT:C34696] +synonym: "Herpes Zoster Dermatitis of Eyelid" RELATED [] synonym: "herpes zoster dermatitis of eyelid" EXACT [NCIT:C34696] synonym: "Herpes zoster dermatitis of eyelids" RELATED [UMLS:C0019362] synonym: "herpes zoster dermatitis of eyelids" EXACT [] @@ -468110,8 +468202,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "alopecia-intellectual disability syndrome 1" EXACT [MONDO:Lexical, OMIM:203650] -synonym: "alopecia-mental retardation syndrome 1" EXACT DEPRECATED [MONDO:Lexical, OMIM:203650] -synonym: "APMR" BROAD ABBREVIATION [OMIM:203650] +synonym: "alopecia-mental retardation syndrome 1" EXACT DEPRECATED [DOID:0080628, MONDO:Lexical, OMIM:203650] +synonym: "APMR" BROAD ABBREVIATION [] synonym: "APMR1" EXACT DEPRECATED [OMIM:203650] xref: DOID:0080628 {source="MONDO:equivalentTo"} xref: MEDGEN:349263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -468149,15 +468241,15 @@ id: MONDO:0021038 name: Ewing sarcoma/peripheral primitive neuroectodermal tumor def: "A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms." [NCIT:C27291] subset: otar {source="MONDO:OTAR"} -synonym: "EFTs" EXACT [NCIT:C27291] +synonym: "EFTs" EXACT [] synonym: "Ewing family of tumors" EXACT [NCIT:C27291, Wikipedia:Ewing_family_of_tumors] synonym: "Ewing family of tumours" EXACT OMO:0003005 [] -synonym: "Ewing sarcoma family of tumors" EXACT [NCIT:C27291] +synonym: "Ewing sarcoma family of tumors" EXACT [] synonym: "Ewing sarcoma family of tumours" EXACT OMO:0003005 [] -synonym: "Ewing sarcoma/peripheral PNET" EXACT [NCIT:C27291] +synonym: "Ewing sarcoma/peripheral PNET" EXACT [] synonym: "Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27291] synonym: "Ewing's family of tumors" EXACT [NCIT:C27291] -synonym: "Ewing's family of tumours" EXACT OMO:0003005 [] +synonym: "Ewing's family of tumours" EXACT OMO:0003005 [NCIT:C27291] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27291] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "tumors of Ewing's family" EXACT [NCIT:C27291] @@ -468178,10 +468270,10 @@ synonym: "extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor" synonym: "extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293] synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumour" EXACT OMO:0003005 [] -synonym: "extraosseous Ewing's tumor" RELATED [DOID:4985, NCIT:C7135] +synonym: "extraosseous Ewing's tumor" RELATED [] synonym: "extraosseous Ewing's tumour" RELATED OMO:0003005 [] -synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumor" EXACT [MONDO:0003230] -synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumour" EXACT OMO:0003005 [] +synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumor" EXACT [DOID:4985, MONDO:0003230] +synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumour" EXACT OMO:0003005 [DOID:4985] synonym: "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [NCIT:C27293] xref: DOID:4985 {source="MONDO:equivalentTo"} xref: EFO:1000250 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -468265,9 +468357,9 @@ subset: ordo_group_of_disorders {source="Orphanet:182067"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glial neoplasm" EXACT [NCIT:C3059] -synonym: "glial tumor" EXACT [NCIT:C3059] +synonym: "glial tumor" EXACT [NCIT:C3059, Orphanet:182067] synonym: "glial tumour" EXACT OMO:0003005 [] -synonym: "glioma" EXACT [NCIT:C3059] +synonym: "glioma" EXACT [NCIT:C3059, Orphanet:182067] synonym: "neoplasm of neuroglia" EXACT [NCIT:C3059] synonym: "neoplasm of the neuroglia" EXACT [NCIT:C3059] synonym: "neuroglial neoplasm" EXACT [NCIT:C3059] @@ -468360,8 +468452,8 @@ synonym: "breast phyllodes neoplasm" EXACT [NCIT:C7575] synonym: "breast phyllodes tumor" EXACT [MONDO:patterns/location, NCIT:C7575] synonym: "cystosarcoma phyllodes of breast" EXACT [NCIT:C7575] synonym: "cystosarcoma phyllodes of the breast" EXACT [NCIT:C7575] -synonym: "cystosarcoma phylloides - breast" EXACT [NCIT:C7575] -synonym: "cystosarcoma phylloides of the breast" EXACT [NCIT:C7575] +synonym: "cystosarcoma phylloides - breast" EXACT [] +synonym: "cystosarcoma phylloides of the breast" EXACT [] synonym: "phyllodes breast neoplasm" EXACT [NCIT:C7575] synonym: "phyllodes breast tumor" EXACT [NCIT:C7575] synonym: "phyllodes breast tumour" EXACT OMO:0003005 [] @@ -468387,7 +468479,7 @@ name: benign mastocytoma def: "A localized mast cell neoplasm without metastatic potential." [NCIT:C3217] subset: inferred_rare subset: rare -synonym: "benign mastocytoma" EXACT [NCIT:C3217] +synonym: "benign mastocytoma" EXACT [DOID:4658, NCIT:C3217] synonym: "MAST cell tumor, benign" EXACT [NCIT:C3217] synonym: "mastocytoma, benign" EXACT [MONDO:patterns/benign] xref: DOID:4658 {source="MONDO:equivalentTo"} @@ -468427,9 +468519,9 @@ synonym: "tumour of vulva" EXACT OMO:0003005 [] synonym: "vulva neoplasm" EXACT [NCIT:C3443] synonym: "vulva tumor" EXACT [NCIT:C3443] synonym: "vulva tumour" EXACT OMO:0003005 [] -synonym: "vulval neoplasm" EXACT [DOID:1245] -synonym: "vulvar neoplasm" EXACT [DOID:1245, NCIT:C3443] -synonym: "vulvar tumor" EXACT [DOID:1245, NCIT:C3443] +synonym: "vulval neoplasm" EXACT [] +synonym: "vulvar neoplasm" EXACT [NCIT:C3443] +synonym: "vulvar tumor" EXACT [NCIT:C3443] synonym: "vulvar tumour" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:22689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -468506,16 +468598,16 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carotid body chemodectoma" RELATED [NCIT:C2932] +synonym: "carotid body chemodectoma" RELATED [] synonym: "carotid body paraganglioma" EXACT [MONDO:patterns/location, NCIT:C2932] -synonym: "carotid body tumor" RELATED [NCIT:C2932] +synonym: "carotid body tumor" RELATED [] synonym: "carotid body tumour" RELATED OMO:0003005 [] -synonym: "chemodectoma" RELATED [NCIT:C2932] -synonym: "chemodectoma, undetermined" RELATED [NCIT:C2932] +synonym: "chemodectoma" RELATED [] +synonym: "chemodectoma, undetermined" RELATED [] synonym: "paraganglioma of carotid body" EXACT [NCIT:C2932] -synonym: "paraganglioma of the carotid body" RELATED [NCIT:C2932] -synonym: "tumor of carotid body" RELATED [NCIT:C2932] -synonym: "tumor of the carotid body" RELATED [NCIT:C2932] +synonym: "paraganglioma of the carotid body" RELATED [] +synonym: "tumor of carotid body" RELATED [] +synonym: "tumor of the carotid body" RELATED [] synonym: "tumour of carotid body" RELATED OMO:0003005 [] synonym: "tumour of the carotid body" RELATED OMO:0003005 [] xref: ICDO:8692/1 {source="NCIT:C2932"} @@ -468536,7 +468628,7 @@ subset: gard_rare {source="GARD:20547", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:223727"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone sarcoma" EXACT [MONDO:0016388, NCIT:C9312] +synonym: "bone sarcoma" EXACT [DOID:0080639, MONDO:0016388, NCIT:C9312, Orphanet:223727] synonym: "osseous sarcoma" EXACT [NCIT:C9312] synonym: "sarcoma of bone" EXACT [NCIT:C9312] synonym: "sarcoma of the bone" EXACT [NCIT:C9312] @@ -468573,14 +468665,14 @@ synonym: "APC - adenomatous polyposis coli" EXACT [NCIT:C3339] synonym: "classic familial adenomatous polyposis" EXACT CLINGEN_LABEL [] synonym: "classic FAP" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "colorectal adenomatous polyposis" EXACT [Orphanet:733] -synonym: "Familial Adenomatous Polyposis" EXACT [NORD:1121] -synonym: "familial adenomatous polyposis" EXACT [DECIPHER:49, NCIT:C3339] +synonym: "Familial Adenomatous Polyposis" EXACT [DOID:0050424, NCIT:C3339, NORD:1121, OMIMPS:175100, Orphanet:733] +synonym: "familial adenomatous polyposis" EXACT [DECIPHER:49, DOID:0050424, NCIT:C3339, OMIMPS:175100, Orphanet:733] synonym: "familial adenomatous polyposis coli" EXACT [NCIT:C3339] synonym: "familial adenomatous polyposis of the colon" RELATED [GARD:0006408] synonym: "familial adenomatous polyposis syndrome" EXACT [NCIT:C3339] synonym: "familial multiple polyposis" RELATED [GARD:0006408] -synonym: "familial polyposis" EXACT [NCIT:C3339] -synonym: "familial polyposis coli" EXACT [Orphanet:733] +synonym: "familial polyposis" EXACT [] +synonym: "familial polyposis coli" EXACT [NCIT:C3339, Orphanet:733] synonym: "FAP" EXACT ABBREVIATION [NCIT:C3339, Orphanet:733] synonym: "FPC" RELATED ABBREVIATION [GARD:0006408] synonym: "hereditary adenomatous polyposis coli" EXACT [NCIT:C3339] @@ -468618,19 +468710,19 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adenoma, periampullary, somatic" EXACT [OMIM:175100, OMIM:genemap2] -synonym: "adenomatous polyposis coli" BROAD [OMIM:175100, OMIM:genemap2] -synonym: "adenomatous polyposis coli, attenuated" RELATED [OMIM:175100] -synonym: "adenomatous polyposis of the colon" RELATED [OMIM:175100] +synonym: "adenoma, periampullary, somatic" EXACT [] +synonym: "adenomatous polyposis coli" BROAD [] +synonym: "adenomatous polyposis coli, attenuated" RELATED [] +synonym: "adenomatous polyposis of the colon" RELATED [] synonym: "APC attenuated familial adenomatous polyposis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "attenuated familial adenomatous polyposis caused by mutation in APC" EXACT [MONDO:design_pattern] -synonym: "brain tumor-polyposis syndrome 2" RELATED [OMIM:175100] -synonym: "familial adenomatous polyposis 1" EXACT [MONDO:Lexical, OMIM:175100] -synonym: "familial adenomatous polyposis, attenuated" RELATED [OMIM:175100] -synonym: "familial polyposis of the colon" RELATED [OMIM:175100] +synonym: "brain tumor-polyposis syndrome 2" RELATED [] +synonym: "familial adenomatous polyposis 1" EXACT [DOID:0080409, MONDO:Lexical, OMIM:175100] +synonym: "familial adenomatous polyposis, attenuated" RELATED [] +synonym: "familial polyposis of the colon" RELATED [] synonym: "FAP1" EXACT ABBREVIATION [OMIM:175100] -synonym: "Gardner syndrome" RELATED [OMIM:175100] -synonym: "polyposis, adenomatous intestinal" RELATED [OMIM:175100] +synonym: "Gardner syndrome" RELATED [] +synonym: "polyposis, adenomatous intestinal" RELATED [] xref: DOID:0080409 {source="MONDO:equivalentTo"} xref: MEDGEN:398651 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:175100 {source="MONDO:equivalentTo"} @@ -468687,7 +468779,7 @@ synonym: "craniocervical region disease or disorder" EXACT [MONDO:design_pattern synonym: "disease of craniocervical region" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of craniocervical region" EXACT [] synonym: "disorder of craniocervical region" EXACT [MONDO:patterns/location_top] -synonym: "head and neck disorder" EXACT [NCIT:C27571] +synonym: "head and neck disorder" EXACT [] synonym: "head or neck disorder" EXACT [] xref: ICD10CM:M26-M27 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C27571 {source="MONDO:obsoleteEquivalent"} @@ -468707,7 +468799,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "disorder of Ras protein signal transduction" EXACT [MONDO:patterns/basis_in_disruption_of_process] synonym: "Ras protein signal transduction disease" EXACT [MONDO:design_pattern] -synonym: "RASopathy" EXACT CLINGEN_LABEL [] +synonym: "RASopathy" EXACT CLINGEN_LABEL [DOID:0080690, NCIT:C179667, Orphanet:536391] xref: DOID:0080690 {source="MONDO:equivalentTo"} xref: EFO:1001502 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:22213 {source="MONDO:GARD"} @@ -468728,18 +468820,18 @@ subset: gard_rare {source="GARD:10420", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acoustic neurofibromatosis" EXACT [DOID:8712] -synonym: "central Neurofibromatosis" EXACT [DOID:8712] -synonym: "neurofibromatosis" EXACT [NCIT:C6727] +synonym: "acoustic neurofibromatosis" EXACT [] +synonym: "central Neurofibromatosis" EXACT [] +synonym: "neurofibromatosis" EXACT [DOID:8712, NCIT:C6727] synonym: "neurofibromatosis syndrome" EXACT [NCIT:C6727] -synonym: "neurofibromatosis type 1" NARROW EXCLUDE [DOID:8712] -synonym: "neurofibromatosis type 2" NARROW [DOID:8712] -synonym: "neurofibromatosis type 4" NARROW [DOID:8712] -synonym: "neurofibromatosis type IV" NARROW [DOID:8712] -synonym: "peripheral Neurofibromatosis" EXACT [DOID:8712] -synonym: "Recklinghausen's neurofibromatosis" EXACT [DOID:8712] -synonym: "type IV neurofibromatosis of riccardi" EXACT [DOID:8712] -synonym: "von Reklinghausen disease" EXACT [DOID:8712] +synonym: "neurofibromatosis type 1" NARROW EXCLUDE [] +synonym: "neurofibromatosis type 2" NARROW [] +synonym: "neurofibromatosis type 4" NARROW [] +synonym: "neurofibromatosis type IV" NARROW [] +synonym: "peripheral Neurofibromatosis" EXACT [] +synonym: "Recklinghausen's neurofibromatosis" EXACT [] +synonym: "type IV neurofibromatosis of riccardi" EXACT [] +synonym: "von Reklinghausen disease" EXACT [] xref: DOID:8712 {source="MONDO:equivalentTo"} xref: EFO:0008514 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:10420 {source="MONDO:GARD"} @@ -468783,7 +468875,7 @@ name: malignant colon neoplasm def: "A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma." [NCIT:C9242] subset: otar {source="MONDO:OTAR"} synonym: "cancer of colon" EXACT [MONDO:patterns/cancer] -synonym: "colon cancer" EXACT [MONDO:patterns/location] +synonym: "colon cancer" EXACT [DOID:219, MONDO:patterns/location] synonym: "colon neoplasm, malignant" EXACT [NCIT:C9242] synonym: "colon tumor, malignant" EXACT [NCIT:C9242] synonym: "malignant colon neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9242] @@ -468902,18 +468994,18 @@ comment: Editor note: note the ONCOTREE class is more general than just bladder subset: otar {source="MONDO:OTAR"} synonym: "neoplasm of renal system" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the urinary system" EXACT [NCIT:C3431] -synonym: "neoplasm of the urinary tract" EXACT [NCIT:C3431] +synonym: "neoplasm of the urinary tract" EXACT [] synonym: "neoplasm of urinary system" EXACT [NCIT:C3431] -synonym: "neoplasm of urinary tract" EXACT [NCIT:C3431] +synonym: "neoplasm of urinary tract" EXACT [] synonym: "renal system neoplasm" EXACT [] synonym: "renal system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "renal system tumor" EXACT [MONDO:patterns/neoplasm] synonym: "renal system tumour" EXACT OMO:0003005 [] synonym: "tumor of renal system" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of the urinary system" EXACT [NCIT:C3431] -synonym: "tumor of the urinary tract" EXACT [NCIT:C3431] +synonym: "tumor of the urinary tract" EXACT [] synonym: "tumor of urinary system" EXACT [NCIT:C3431] -synonym: "tumor of urinary tract" EXACT [NCIT:C3431] +synonym: "tumor of urinary tract" EXACT [] synonym: "tumour of renal system" EXACT OMO:0003005 [] synonym: "tumour of the urinary system" EXACT OMO:0003005 [] synonym: "tumour of the urinary tract" EXACT OMO:0003005 [] @@ -468922,8 +469014,8 @@ synonym: "tumour of urinary tract" EXACT OMO:0003005 [] synonym: "urinary system neoplasm" EXACT [NCIT:C3431] synonym: "urinary system tumor" EXACT [NCIT:C3431] synonym: "urinary system tumour" EXACT OMO:0003005 [] -synonym: "urinary tract neoplasm" EXACT [NCIT:C3431] -synonym: "urinary tract tumor" EXACT [NCIT:C3431] +synonym: "urinary tract neoplasm" EXACT [] +synonym: "urinary tract tumor" EXACT [] synonym: "urinary tract tumour" EXACT OMO:0003005 [] xref: ICD9:239.5 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:52949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -469000,10 +469092,10 @@ name: malignant endocrine neoplasm def: "A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma." [NCIT:C3575] subset: otar {source="MONDO:OTAR"} synonym: "cancer of endocrine gland" EXACT [MONDO:patterns/cancer] -synonym: "endocrine cancer" EXACT [NCIT:C3575] -synonym: "endocrine cancer, NOS" RELATED EXCLUDE [NCIT:C3575] -synonym: "endocrine gland cancer" EXACT [MONDO:patterns/location] -synonym: "endocrine neoplasm" BROAD [DOID:170] +synonym: "endocrine cancer" EXACT [] +synonym: "endocrine cancer, NOS" RELATED EXCLUDE [] +synonym: "endocrine gland cancer" EXACT [DOID:170, MONDO:patterns/location] +synonym: "endocrine neoplasm" BROAD [] synonym: "endocrine neoplasm, malignant" EXACT [NCIT:C3575] synonym: "Endocrine tumor" EXACT [DOID:170] synonym: "Endocrine tumour" EXACT OMO:0003005 [] @@ -469011,15 +469103,15 @@ synonym: "malignant endocrine gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT synonym: "malignant endocrine gland tumor" EXACT [NCIT:C3575] synonym: "malignant endocrine gland tumour" EXACT OMO:0003005 [] synonym: "malignant endocrine neoplasm" EXACT [NCIT:C3575] -synonym: "malignant endocrine tumor" EXACT [NCIT:C3575] +synonym: "malignant endocrine tumor" EXACT [DOID:170, NCIT:C3575] synonym: "malignant endocrine tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of endocrine gland" EXACT [MONDO:patterns/cancer, NCIT:C3575] +synonym: "malignant neoplasm of endocrine gland" EXACT [DOID:170, MONDO:patterns/cancer, NCIT:C3575] synonym: "malignant neoplasm of the endocrine gland" EXACT [NCIT:C3575] -synonym: "malignant tumor of endocrine gland" EXACT [DOID:170, NCIT:C3575] +synonym: "malignant tumor of endocrine gland" EXACT [NCIT:C3575] synonym: "malignant tumor of the endocrine gland" EXACT [NCIT:C3575] -synonym: "malignant tumour of endocrine gland" EXACT OMO:0003005 [] +synonym: "malignant tumour of endocrine gland" EXACT OMO:0003005 [DOID:170] synonym: "malignant tumour of the endocrine gland" EXACT OMO:0003005 [] -synonym: "neoplasm of endocrine gland" RELATED EXCLUDE [DOID:170] +synonym: "neoplasm of endocrine gland" RELATED EXCLUDE [] synonym: "neoplasm of endocrine system" EXACT [DOID:170] xref: DOID:170 {source="MONDO:equivalentTo"} xref: ICD10CM:C73-C75 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -469048,7 +469140,7 @@ name: sublingual gland carcinoma def: "A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma." [NCIT:C8397] synonym: "carcinoma of sublingual gland" EXACT [MONDO:patterns/carcinoma, NCIT:C8397] synonym: "carcinoma of the sublingual gland" EXACT [NCIT:C8397] -synonym: "sublingual gland cancer" BROAD [NCIT:C8397] +synonym: "sublingual gland cancer" BROAD [] synonym: "sublingual gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C8397] xref: MEDGEN:83385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8397 {source="MONDO:equivalentTo"} @@ -469065,16 +469157,16 @@ name: laryngeal neoplasm def: "A benign or malignant neoplasm involving the larynx." [NCIT:C3156] subset: otar {source="MONDO:OTAR"} synonym: "laryngeal neoplasm" EXACT [NCIT:C3156] -synonym: "laryngeal tumor" EXACT [NCIT:C3156] +synonym: "laryngeal tumor" EXACT [] synonym: "laryngeal tumour" EXACT OMO:0003005 [] synonym: "larynx neoplasm" EXACT [NCIT:C3156] synonym: "larynx neoplasm (disease)" EXACT [MONDO:patterns/location] -synonym: "larynx tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3156] +synonym: "larynx tumor" EXACT [MONDO:patterns/neoplasm] synonym: "larynx tumour" EXACT OMO:0003005 [] synonym: "neoplasm of larynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3156] synonym: "neoplasm of the larynx" EXACT [NCIT:C3156] -synonym: "tumor of larynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3156] -synonym: "tumor of the larynx" EXACT [NCIT:C3156] +synonym: "tumor of larynx" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of the larynx" EXACT [] synonym: "tumour of larynx" EXACT OMO:0003005 [] synonym: "tumour of the larynx" EXACT OMO:0003005 [] xref: EFO:0003817 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -469218,7 +469310,7 @@ synonym: "childhood neoplasm" EXACT [NCIT:C6283] synonym: "childhood neoplasm (disease)" EXACT [] synonym: "childhood tumor" EXACT [NCIT:C6283] synonym: "childhood tumour" EXACT OMO:0003005 [] -synonym: "neoplasm" BROAD EXCLUDE [NCIT:C6283] +synonym: "neoplasm" BROAD EXCLUDE [] synonym: "neoplasm (disease) of childhood" EXACT [MONDO:patterns/childhood] synonym: "paediatric neoplasm" EXACT OMO:0003005 [] synonym: "paediatric neoplasm (disease)" EXACT OMO:0003005 [] @@ -469263,9 +469355,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:217253"} subset: orphanet_rare {source="Orphanet:217253"} subset: rare -synonym: "anti-NMDA receptor encephalitis" EXACT [NCIT:C94853] +synonym: "anti-NMDA receptor encephalitis" EXACT [icd11.foundation:1568915618, NCIT:C94853, Orphanet:217253] synonym: "limbic encephalitis with N-methyl-D-aspartate receptor antibodies" EXACT [Orphanet:217253] -synonym: "limbic encephalitis with NMDA receptor antibodies" EXACT [MONDO:0016317] +synonym: "limbic encephalitis with NMDA receptor antibodies" EXACT [MONDO:0016317, Orphanet:217253] xref: GARD:20513 {source="MONDO:GARD"} xref: ICD10CM:G13.1 {source="Orphanet:217253/ntbt", source="Orphanet:217253"} xref: icd11.foundation:1568915618 {source="MONDO:equivalentTo"} @@ -469310,14 +469402,14 @@ def: "Any congenital fibrosis of extraocular muscles in which the cause of the d subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "blepharoptosis with absent eye movements" RELATED [OMIM:135700] +synonym: "blepharoptosis with absent eye movements" RELATED [] synonym: "CFEOM1" EXACT ABBREVIATION [OMIM:135700] synonym: "congenital fibrosis of extraocular muscles caused by mutation in KIF21A" EXACT [MONDO:design_pattern] -synonym: "Feom1 locus" RELATED [OMIM:135700] +synonym: "Feom1 locus" RELATED [] synonym: "fibrosis of extraocular muscles, congenital, 1" EXACT [OMIM:135700] -synonym: "fibrosis of extraocular muscles, congenital, 3B" RELATED [OMIM:135700] +synonym: "fibrosis of extraocular muscles, congenital, 3B" RELATED [] synonym: "KIF21A congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ophthalmoplegia, congenital" RELATED [OMIM:135700] +synonym: "ophthalmoplegia, congenital" RELATED [] xref: DOID:0081015 {source="MONDO:equivalentTo"} xref: MEDGEN:376943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:135700 {source="MONDO:equivalentTo"} @@ -469336,11 +469428,11 @@ name: vision disorder def: "Any impairment to the vision." [NCIT:C35126] subset: otar {source="MONDO:OTAR"} synonym: "disorder of vision" EXACT [] -synonym: "disorder of visual system" BROAD [NCIT:C35126] +synonym: "disorder of visual system" BROAD [] synonym: "vision disorder" EXACT [NCIT:C35126] synonym: "visual disorder" EXACT [NCIT:C35126] -synonym: "visual Field disorder" RELATED [NCIT:C35126] -synonym: "visual system disorder" BROAD [NCIT:C35126] +synonym: "visual Field disorder" RELATED [] +synonym: "visual system disorder" BROAD [] xref: ICD10CM:H53-H54 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: MedDRA:10047518 xref: MEDGEN:12103 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -469489,9 +469581,9 @@ intersection_of: disease_has_location UBERON:0000010 ! peripheral nervous system id: MONDO:0021090 name: lipid-rich breast carcinoma def: "An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells." [NCIT:C40365] -synonym: "breast lipid-rich carcinoma" EXACT [MONDO:patterns/location] -synonym: "lipid secreting breast carcinoma" RELATED [NCIT:C40365] -synonym: "lipid-rich breast carcinoma" EXACT [MONDO:0004097, NCIT:C40365] +synonym: "breast lipid-rich carcinoma" EXACT [DOID:7076, MONDO:patterns/location, NCIT:C40365] +synonym: "lipid secreting breast carcinoma" RELATED [] +synonym: "lipid-rich breast carcinoma" EXACT [DOID:7076, MONDO:0004097, NCIT:C40365] xref: DOID:7076 {source="MONDO:equivalentTo"} xref: MEDGEN:274685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C40365 {source="MONDO:equivalentTo", source="DOID:7076", source="NCIT:C40365"} @@ -469553,12 +469645,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CED1" EXACT ABBREVIATION [OMIM:218330] -synonym: "cranioectodermal dysplasia 1" EXACT [MONDO:Lexical, OMIM:218330] +synonym: "cranioectodermal dysplasia 1" EXACT [DOID:0080803, MONDO:Lexical, OMIM:218330] synonym: "cranioectodermal dysplasia caused by mutation in IFT122" EXACT [MONDO:design_pattern] -synonym: "cranioectodermal dysplasia type 1" EXACT [MONDORULE:1, OMIM:218330] +synonym: "cranioectodermal dysplasia type 1" EXACT [MONDORULE:1] synonym: "IFT122 cranioectodermal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Levin syndrome 1" RELATED [OMIM:218330] -synonym: "Sensenbrenner syndrome" BROAD [OMIM:218330] +synonym: "Levin syndrome 1" RELATED [] +synonym: "Sensenbrenner syndrome" BROAD [] xref: DOID:0080803 {source="MONDO:equivalentTo"} xref: MEDGEN:96586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:218330 {source="MONDO:equivalentTo"} @@ -469579,10 +469671,10 @@ name: immunodeficiency disease def: "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." [NCIT:C3131-modified] subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "immuno-deficiency" EXACT [NCIT:C3131] -synonym: "immunodeficiency" EXACT [NCIT:C3131] +synonym: "immuno-deficiency" EXACT [] +synonym: "immunodeficiency" EXACT [NCIT:C3131, OMIMPS:300755] synonym: "immunodeficiency disorder" EXACT [NCIT:C3131] -synonym: "immunodeficiency syndrome" RELATED [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18, NCIT:C3131] +synonym: "immunodeficiency syndrome" RELATED [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18] xref: ICD9:279.3 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:7034 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2100204 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -469623,7 +469715,7 @@ is_a: MONDO:0005626 {source="NCIT:C8429"} ! epithelial neoplasm id: MONDO:0021097 name: intraductal breast papilloma def: "A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." [NCIT:C3863] -synonym: "breast duct papilloma" RELATED [DOID:1626] +synonym: "breast duct papilloma" RELATED [] synonym: "breast papilloma" EXACT [NCIT:C3863] synonym: "duct papilloma of breast" EXACT [DOID:1626, NCIT:C3863] synonym: "duct papilloma of the breast" EXACT [NCIT:C3863] @@ -469682,7 +469774,7 @@ synonym: "breast tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C2910] synonym: "breast tumour" EXACT OMO:0003005 [] synonym: "neoplasm of breast" EXACT [MONDO:patterns/neoplasm, NCIT:C2910] synonym: "neoplasm of the breast" EXACT [NCIT:C2910] -synonym: "neoplasm, breast" EXACT [NCIT:C2910] +synonym: "neoplasm, breast" EXACT [] synonym: "tumor of breast" EXACT [MONDO:patterns/neoplasm, NCIT:C2910] synonym: "tumor of the breast" EXACT [NCIT:C2910] synonym: "tumour of breast" EXACT OMO:0003005 [] @@ -469709,19 +469801,19 @@ name: appendix L-cell glucagon-like peptide-producing neuroendocrine tumor def: "A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns." [NCIT:C27445] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "appendiceal L-cell glucagon-like peptide producing tumor" RELATED [DOID:8151] +synonym: "appendiceal L-cell glucagon-like peptide producing tumor" RELATED [] synonym: "appendiceal L-cell glucagon-like peptide producing tumour" RELATED OMO:0003005 [] -synonym: "appendiceal L-cell glucagon-like peptide-producing NET" RELATED [NCIT:C27445] -synonym: "appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor" RELATED [NCIT:C27445] +synonym: "appendiceal L-cell glucagon-like peptide-producing NET" RELATED [] +synonym: "appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor" RELATED [] synonym: "appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumour" RELATED OMO:0003005 [] -synonym: "appendix L-cell glucagon-like peptide-producing NET" RELATED [NCIT:C27445] +synonym: "appendix L-cell glucagon-like peptide-producing NET" RELATED [] synonym: "appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27445] -synonym: "appendix L-cell NET" RELATED [NCIT:C27445] +synonym: "appendix L-cell NET" RELATED [] synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix" EXACT [MONDO:design_pattern] synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumour of vermiform appendix" EXACT OMO:0003005 [] synonym: "malignant appendiceal glucagonoma" EXACT [DOID:8151] synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumor" EXACT [DOID:8151] -synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumour" EXACT OMO:0003005 [] +synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumour" EXACT OMO:0003005 [DOID:8151] synonym: "vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumour" EXACT OMO:0003005 [] xref: DOID:8151 {source="MONDO:equivalentTo"} @@ -469749,7 +469841,7 @@ synonym: "malignant phyllodes tumour of prostate (subtype)" RELATED OMO:0003005 synonym: "phyllodes neoplasm of prostate" EXACT [NCIT:C7574] synonym: "phyllodes neoplasm of the prostate" EXACT [NCIT:C7574] synonym: "phyllodes tumor of prostate" EXACT [NCIT:C7574] -synonym: "phyllodes tumor of the prostate" EXACT [NCIT:C7574] +synonym: "phyllodes tumor of the prostate" EXACT [NCIT:C7574, Orphanet:498228] synonym: "phyllodes tumour of prostate" EXACT OMO:0003005 [] synonym: "phyllodes tumour of the prostate" EXACT OMO:0003005 [] synonym: "prostate cystosarcoma phyllodes" EXACT [NCIT:C7574] @@ -469774,7 +469866,7 @@ id: MONDO:0021103 name: obsolete collagen diseases def: "OBSOLETE. Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)" [MESH:D003095] synonym: "collagen disease" EXACT [MESH:D003095] -synonym: "collagen disorder" EXACT [DOID:854] +synonym: "collagen disorder" EXACT [] synonym: "disease, collagen" EXACT [MESH:D003095] synonym: "diseases, collagen" EXACT [MESH:D003095] xref: DOID:854 {source="MONDO:obsoleteEquivalent"} @@ -469807,7 +469899,7 @@ name: NAFLD1 subset: predisposition synonym: "fatty liver disease, nonalcoholic, susceptibility to, 1" EXACT [OMIM:613282] synonym: "liver disease, alcoholic, susceptibility to, 1" EXACT [OMIM:613282] -synonym: "NAFLD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:613282] +synonym: "NAFLD1" EXACT ABBREVIATION [MONDO:Lexical] xref: MEDGEN:413307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613282 {source="MONDO:equivalentTo"} xref: UMLS:C2750440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:413307"} @@ -469840,8 +469932,8 @@ subset: ordo_group_of_disorders {source="Orphanet:619284"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "narcolepsy with or without cataplexy" EXACT [Orphanet:619284] -synonym: "narcolepsy, without cataplexy" NARROW [DOID:8986] -synonym: "paroxysmal sleep" EXACT [DOID:8986] +synonym: "narcolepsy, without cataplexy" NARROW [] +synonym: "paroxysmal sleep" EXACT [DOID:8986, icd11.foundation:1201727099] xref: DOID:8986 {source="MONDO:equivalentTo"} xref: GARD:22460 {source="MONDO:GARD"} xref: icd11.foundation:1201727099 {source="MONDO:equivalentTo"} @@ -469981,12 +470073,12 @@ id: MONDO:0021113 name: respiratory failure def: "The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function." [NCIT:C26872] subset: otar {source="MONDO:OTAR"} -synonym: "acute and chronic respiratory failure" RELATED [DOID:11162, ICD9CM:518.84] -synonym: "acute respiratory failure" NARROW [DOID:11162, NCIT:C27043] -synonym: "acute-on-chronic respiratory failure" RELATED [DOID:11162] -synonym: "chronic respiratory failure" NARROW [DOID:11162] -synonym: "failure, respiratory" EXACT [NCIT:C26872] -synonym: "respiratory failure" EXACT [NCIT:C26872] +synonym: "acute and chronic respiratory failure" RELATED [ICD9CM:518.84] +synonym: "acute respiratory failure" NARROW [] +synonym: "acute-on-chronic respiratory failure" RELATED [] +synonym: "chronic respiratory failure" NARROW [] +synonym: "failure, respiratory" EXACT [] +synonym: "respiratory failure" EXACT [DOID:11162, icd11.foundation:370028006, NCIT:C26872] synonym: "respiratory insufficiency/failure" EXACT [DOID:11162] xref: DOID:11162 {source="MONDO:equivalentTo"} xref: EFO:0009686 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -470040,7 +470132,7 @@ def: "A biologic subset of breast carcinoma defined by low to moderate expressio subset: otar {source="MONDO:OTAR"} synonym: "Luminal B" EXACT [NCIT:C53555] synonym: "Luminal B breast cancer" EXACT [NCIT:C53555] -synonym: "Luminal B breast carcinoma" EXACT [NCIT:C53555] +synonym: "Luminal B breast carcinoma" EXACT [DOID:0080674, NCIT:C53555] synonym: "Luminal B estrogen receptor positive subtype of breast carcinoma" EXACT [NCIT:C53555] synonym: "Luminal B oestrogen receptor positive subtype of breast carcinoma" EXACT OMO:0003005 [] synonym: "Luminal B subtype of breast carcinoma" EXACT [NCIT:C53555] @@ -470108,7 +470200,7 @@ name: intestinal neoplasm def: "A benign or malignant neoplasm involving the small or large intestine." [NCIT:C3141] subset: otar {source="MONDO:OTAR"} synonym: "bowel neoplasm" RELATED [ONCOTREE:BOWEL] -synonym: "intestinal benign neoplasm" RELATED [DOID:4610] +synonym: "intestinal benign neoplasm" RELATED [] synonym: "intestinal neoplasm" EXACT [NCIT:C3141] synonym: "intestinal neoplasms" EXACT [NCIT:C3141] synonym: "intestinal tumor" EXACT [NCIT:C3141] @@ -470148,11 +470240,11 @@ intersection_of: disease_has_location UBERON:0000160 ! intestine id: MONDO:0021119 name: non-functioning endocrine neoplasm def: "A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome." [NCIT:C94760] -synonym: "endocrine-inactive tumor" EXACT [NCIT:C94760] +synonym: "endocrine-inactive tumor" EXACT [] synonym: "endocrine-inactive tumour" EXACT OMO:0003005 [] synonym: "non-functioning endocrine neoplasm" EXACT [NCIT:C94760] synonym: "nonfunctional Endocrine neoplasm" EXACT [NCIT:C94760] -synonym: "nonfunctioning tumor" EXACT [NCIT:C94760] +synonym: "nonfunctioning tumor" EXACT [] synonym: "nonfunctioning tumour" EXACT OMO:0003005 [] xref: MEDGEN:458882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C94760 {source="MONDO:equivalentTo"} @@ -470167,7 +470259,7 @@ id: MONDO:0021120 name: functioning endocrine neoplasm def: "A hormone producing endocrine neoplasm, associated with a hormonal syndrome." [NCIT:C94759] synonym: "functioning endocrine neoplasm" EXACT [NCIT:C94759] -synonym: "functioning tumor" EXACT [NCIT:C94759] +synonym: "functioning tumor" EXACT [] synonym: "functioning tumour" EXACT OMO:0003005 [] xref: ICDO:8158/1 {source="NCIT:C94759"} xref: MEDGEN:458881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -470226,7 +470318,7 @@ id: MONDO:0021124 name: female infertility def: "Diminished or absent ability of a female to achieve conception." [MESH:D007247] subset: otar {source="MONDO:OTAR"} -synonym: "female infertility" EXACT [MESH:D007247] +synonym: "female infertility" EXACT [ICD10CM:N97, icd11.foundation:1237004558, MESH:D007247] synonym: "female reproductive system infertility" EXACT [MONDO:patterns/location] synonym: "female reproductive system infertility disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "female sterility" RELATED [MESH:D007247] @@ -470286,10 +470378,10 @@ id: MONDO:0021129 name: microphthalmia def: "Congenital or developmental anomaly in which the eyeballs are abnormally small." [MESH:D008850] subset: otar {source="MONDO:OTAR"} -synonym: "microphthalmia" EXACT [MONDO:ambiguous] -synonym: "microphthalmos" NARROW [DOID:10629] -synonym: "nanophthalmia" NARROW EXCLUDE [DOID:10629] -synonym: "nanophthalmos" NARROW [DOID:10629] +synonym: "microphthalmia" EXACT [DOID:10629, MONDO:ambiguous] +synonym: "microphthalmos" NARROW [] +synonym: "nanophthalmia" NARROW EXCLUDE [] +synonym: "nanophthalmos" NARROW [] synonym: "simple microphthalmos" EXACT [DOID:10629] xref: DOID:10629 {source="MONDO:equivalentTo", source="EFO:0005569"} xref: EFO:0005569 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -470351,7 +470443,7 @@ intersection_of: disease_has_location UBERON:0016525 ! frontal lobe id: MONDO:0021132 name: tertiary hyperparathyroidism def: "An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism." [NCIT:C114821] -synonym: "tertiary hyperparathyroidism" EXACT [NCIT:C114821] +synonym: "tertiary hyperparathyroidism" EXACT [icd11.foundation:10683191, NCIT:C114821] xref: icd11.foundation:10683191 {source="MONDO:equivalentTo"} xref: ICD9:588.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:488837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -470370,7 +470462,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:599513"} subset: orphanet_rare {source="Orphanet:599513"} subset: rare -synonym: "acquired factor XIII deficiency" EXACT [MONDO:patterns/acquired] +synonym: "acquired factor XIII deficiency" EXACT [icd11.foundation:939366157, MONDO:patterns/acquired, NCIT:C131629, Orphanet:599513] synonym: "aFXIII" EXACT ABBREVIATION [Orphanet:599513] xref: GARD:22412 {source="MONDO:GARD"} xref: icd11.foundation:939366157 {source="MONDO:equivalentTo"} @@ -470394,7 +470486,7 @@ subset: ordo_disorder {source="Orphanet:599501"} subset: orphanet_rare {source="Orphanet:599501"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "acquired factor X deficiency" EXACT [MONDO:patterns/acquired] +synonym: "acquired factor X deficiency" EXACT [MONDO:patterns/acquired, NCIT:C131626, Orphanet:599501] synonym: "aFX" EXACT ABBREVIATION [Orphanet:599501] xref: GARD:22410 {source="MONDO:GARD"} xref: ICD9:286.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -470446,7 +470538,7 @@ def: "Malignant neoplasms that either originate from the bone marrow (e.g. myelo subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "bone marrow cancer" EXACT [MONDO:patterns/location, NCIT:C35501] +synonym: "bone marrow cancer" EXACT [MONDO:patterns/location] synonym: "cancer of bone marrow" EXACT [MONDO:patterns/cancer] synonym: "malignant bone marrow neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C35501] synonym: "malignant bone marrow tumor" EXACT [NCIT:C35501] @@ -470670,7 +470762,7 @@ synonym: "dermis disease or disorder" EXACT [MONDO:patterns/location] synonym: "disease of dermis" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of dermis" EXACT [] synonym: "disorder of dermis" EXACT [MONDO:patterns/location_top] -synonym: "other dermis disorder" EXACT [MONDO:0019295] +synonym: "other dermis disorder" EXACT [MONDO:0019295, Orphanet:79381] xref: MEDGEN:1843083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:79381 {source="MONDO:equivalentTo"} xref: UMLS:C5681483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1843083"} @@ -470695,7 +470787,7 @@ id: MONDO:0021156 name: hypophysitis def: "Inflammation of the pituitary gland." [MESH:D000072659] comment: Editor note: TODO - add all subtypes; Granulomatous hypophysitis is one of five types of inflammatory hypophysitis, which are (lymphocytic, granulomatous, xanthomatous, xanthogranulomatous, and necrotizing) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494403/ -synonym: "gland, pituitary" EXACT [NCIT:C12399] +synonym: "gland, pituitary" EXACT [] synonym: "hypophysis" EXACT [NCIT:C12399] synonym: "hypophysis cerebri" EXACT [NCIT:C12399] synonym: "hypophysitides" EXACT [MESH:D000072659] @@ -470720,7 +470812,7 @@ id: MONDO:0021157 name: gonococcal cervicitis synonym: "gonorrhea of cervix" EXACT [https://orcid.org/0000-0002-6601-2165] synonym: "gonorrhea of uterine cervix" EXACT [https://orcid.org/0000-0002-6601-2165] -synonym: "gonorrhoea of cervix" EXACT OMO:0003005 [] +synonym: "gonorrhoea of cervix" EXACT OMO:0003005 [icd11.foundation:1706835456] synonym: "gonorrhoea of uterine cervix" EXACT OMO:0003005 [] xref: icd11.foundation:1706835456 {source="MONDO:equivalentTo"} xref: MEDGEN:678343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -470796,7 +470888,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:485 ! Neisseria gonorrho [Term] id: MONDO:0021162 name: carotenemia -synonym: "acquired carotenemia" EXACT [DOID:9969] +synonym: "acquired carotenemia" EXACT [] synonym: "hypercarotinemia" EXACT [DOID:9969, ICD9CM:278.3] xref: DOID:9969 {source="MONDO:equivalentTo"} xref: ICD10CM:E67.1 {source="DOID:9969"} @@ -470863,7 +470955,7 @@ id: MONDO:0021165 name: Paget disease def: "A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum." [NCIT:C7073] subset: otar {source="MONDO:OTAR"} -synonym: "Paget cell neoplasm" BROAD [NCIT:C7073] +synonym: "Paget cell neoplasm" BROAD [] synonym: "Paget disease" EXACT [NCIT:C7073] synonym: "Paget's cell neoplasm" EXACT [NCIT:C7073] synonym: "Paget's disease" EXACT [NCIT:C7073] @@ -470880,8 +470972,8 @@ subset: harrisons_view subset: rare_grouping synonym: "anatomical structure inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] synonym: "inflammation of anatomical structure" EXACT [] -synonym: "inflammatory disease" EXACT [] -synonym: "inflammatory disorder" EXACT [] +synonym: "inflammatory disease" EXACT [NCIT:C93210] +synonym: "inflammatory disorder" EXACT [NCIT:C93210] xref: ICD10CM:G00-G09 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:799.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:452939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -470949,10 +471041,10 @@ subset: ordo_disorder {source="Orphanet:675396"} subset: orphanet_rare {source="Orphanet:675396"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "angiolymphoid hyperplasia with eosinophilia" RELATED EXCLUDE [DOID:474, NCIT:C4298] +synonym: "angiolymphoid hyperplasia with eosinophilia" RELATED EXCLUDE [] synonym: "epithelioid haemangioma" EXACT [DOID:474] -synonym: "epithelioid hemangioma" EXACT [DOID:474, NCIT:C4298] -synonym: "histiocytoid hemangioma" EXACT [MONDO:0003119, NCIT:C4298] +synonym: "epithelioid hemangioma" EXACT [DOID:474, NCIT:C4298, Orphanet:675396] +synonym: "histiocytoid hemangioma" EXACT [DOID:474, MONDO:0003119, NCIT:C4298] xref: DOID:474 {source="MONDO:equivalentTo"} xref: ICDO:9125/0 {source="NCIT:C4298"} xref: MEDGEN:61449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -470971,8 +471063,8 @@ is_a: MONDO:0006500 {source="DOID:474", source="NCIT:C4298"} ! hemangioma [Term] id: MONDO:0021170 name: obsolete amyotonia congenita -synonym: "amyotonia congenita" RELATED [OMIM:205000] -synonym: "Oppenheim disease" RELATED [GARD:0005798, OMIM:205000] +synonym: "amyotonia congenita" RELATED [] +synonym: "Oppenheim disease" RELATED [GARD:0005798] synonym: "Oppenheim's disease" RELATED [GARD:0005798] is_obsolete: true @@ -471013,7 +471105,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0021175 name: herpetic vulvovaginitis def: "Infection of the vulva and the vagina caused by herpes simplex virus." [NCIT:C34697] -synonym: "Herpetic Vulvovaginitis" RELATED [NCIT:C34697] +synonym: "Herpetic Vulvovaginitis" RELATED [] synonym: "Herpetic vulvovaginitis" RELATED [UMLS:C0019386] synonym: "herpetic vulvovaginitis" EXACT [NCIT:C34697] xref: ICD9:054.11 @@ -471035,7 +471127,7 @@ subset: gard_rare {source="GARD:22252", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:563581"} subset: rare -synonym: "autoimmune hepatitis type 2" EXACT [] +synonym: "autoimmune hepatitis type 2" EXACT [icd11.foundation:61111843, Orphanet:563581] synonym: "type 2 AIH" EXACT [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/] xref: GARD:22252 {source="MONDO:GARD"} xref: icd11.foundation:61111843 {source="MONDO:equivalentTo"} @@ -471051,7 +471143,7 @@ name: autoimmune hepatitis type 3 def: "Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens." [http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/hepatology/chronic-autoimmune-hepatitis/, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900560/] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "autoimmune hepatitis type 3" EXACT [] +synonym: "autoimmune hepatitis type 3" EXACT [icd11.foundation:607786920] xref: icd11.foundation:607786920 {source="MONDO:equivalentTo"} xref: MEDGEN:928831 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:721713007 {source="MONDO:equivalentTo"} @@ -471156,11 +471248,11 @@ synonym: "hereditary blood coagulation disease" EXACT [MONDO:patterns/hereditary synonym: "hereditary blood coagulation disorders" EXACT [MESH:D025861] synonym: "hereditary coagulation disorder" EXACT [MESH:D025861] synonym: "hereditary coagulation disorders" EXACT [MESH:D025861] -synonym: "inherited blood coagulation disease" RELATED [DOID:2214] +synonym: "inherited blood coagulation disease" RELATED [] synonym: "inherited blood coagulation disorders" EXACT [MESH:D025861] synonym: "inherited coagulation disorder" EXACT [MESH:D025861] synonym: "inherited coagulation disorders" EXACT [MESH:D025861] -synonym: "rare genetic coagulation disorder" EXACT [Orphanet:98429] +synonym: "rare genetic coagulation disorder" EXACT [Orphanet:183654] xref: DOID:2214 {source="MONDO:equivalentObsolete"} xref: GARD:20319 {source="MONDO:GARD"} xref: MEDGEN:163105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -471283,7 +471375,7 @@ synonym: "disorder, DNA repair-deficiency" RELATED [MESH:D049914] synonym: "disorders, DNA repair-deficiency" RELATED [MESH:D049914] synonym: "DNA repair deficiency" RELATED [MESH:D049914] synonym: "DNA repair deficiency disorders" RELATED [MESH:D049914] -synonym: "DNA repair disorder" EXACT [] +synonym: "DNA repair disorder" EXACT [NCIT:C7757] synonym: "DNA repair, deficient" RELATED [MESH:D049914] synonym: "DNA repair-deficiencies" RELATED [MESH:D049914] synonym: "DNA repair-deficiency" RELATED [MESH:D049914] @@ -471426,7 +471518,7 @@ def: "OBSOLETE. A disease that disrupts the functioning of an organ system." [ht comment: This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. subset: metaclass synonym: "anatomical system disease" EXACT [MONDO:patterns/location] -synonym: "disease of anatomical entity" RELATED [DOID:7] +synonym: "disease of anatomical entity" RELATED [] synonym: "disease of anatomical system" EXACT [MONDO:patterns/location_top] synonym: "disorder of anatomical system" RELATED [MONDO:patterns/location_top] xref: DOID:7 {source="MONDO:obsoleteEquivalent"} @@ -471442,8 +471534,8 @@ name: obsolete rare disease def: "OBSOLETE. Any of the forms of disease that have a rare incidence." [MONDO:patterns/rare] synonym: "rare disease" EXACT [MONDO:patterns/rare] synonym: "rare disease or disorder" EXACT [MONDO:patterns/rare] -synonym: "rare diseases" EXACT [NCIT:C4873] -synonym: "rare disorder" EXACT [NCIT:C4873] +synonym: "rare diseases" EXACT [] +synonym: "rare disorder" EXACT [] xref: MESH:D035583 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C4873 {source="MONDO:obsoleteEquivalent"} xref: NCIT:C53543 @@ -471515,7 +471607,7 @@ synonym: "disease of ear" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of ear" EXACT [] synonym: "disorder of ear" EXACT [MONDO:patterns/location_top] synonym: "Ear disease" EXACT [NCIT:C26757] -synonym: "ear disease" EXACT [MONDO:patterns/location] +synonym: "ear disease" EXACT [MONDO:patterns/location, NCIT:C26757] synonym: "ear disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "Ear disorder" EXACT [NCIT:C26757] xref: ICD9:388.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -471698,7 +471790,7 @@ synonym: "eye tumour" EXACT OMO:0003005 [] synonym: "eyeball of camera-type eye neoplasm" EXACT [] synonym: "eyeball of camera-type eye tumor" EXACT [MONDO:patterns/neoplasm] synonym: "eyeball of camera-type eye tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of eye" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of eye" EXACT [MONDO:patterns/neoplasm, NCIT:C3030] synonym: "neoplasm of eyeball of camera-type eye" EXACT [MONDO:patterns/neoplasm] synonym: "neoplasm of the eye" EXACT [NCIT:C3030] synonym: "ocular neoplasm" EXACT [NCIT:C3030] @@ -471771,12 +471863,12 @@ name: lacrimal gland neoplasm def: "A neoplasm (disease) that involves the lacrimal gland." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "lacrimal gland neoplasm (disease)" EXACT [MONDO:patterns/location] -synonym: "lacrimal gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4360] +synonym: "lacrimal gland tumor" EXACT [MONDO:patterns/neoplasm] synonym: "lacrimal gland tumour" EXACT OMO:0003005 [] synonym: "neoplasm of lacrimal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4360] synonym: "neoplasm of the lacrimal gland" EXACT [NCIT:C4360] -synonym: "tumor of lacrimal gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4360] -synonym: "tumor of the lacrimal gland" EXACT [NCIT:C4360] +synonym: "tumor of lacrimal gland" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of the lacrimal gland" EXACT [] synonym: "tumour of lacrimal gland" EXACT OMO:0003005 [] synonym: "tumour of the lacrimal gland" EXACT OMO:0003005 [] xref: MEDGEN:83280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -472028,7 +472120,7 @@ id: MONDO:0021231 name: retina neoplasm def: "A neoplasm (disease) that involves the retina." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} -synonym: "neoplasm of retina" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of retina" EXACT [MONDO:patterns/neoplasm, NCIT:C4800] synonym: "neoplasm of the retina" EXACT [NCIT:C4800] synonym: "retina neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "retina tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4800] @@ -472098,14 +472190,14 @@ subset: otar {source="MONDO:OTAR"} synonym: "ear neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "Ear neoplasms" EXACT [NCIT:C3000] synonym: "Ear tumor" EXACT [NCIT:C3000] -synonym: "ear tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "ear tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3000] synonym: "Ear tumour" EXACT OMO:0003005 [] synonym: "ear tumour" EXACT OMO:0003005 [] synonym: "neoplasm of Ear" EXACT [NCIT:C3000] -synonym: "neoplasm of ear" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of ear" EXACT [MONDO:patterns/neoplasm, NCIT:C3000] synonym: "neoplasm of the Ear" EXACT [NCIT:C3000] synonym: "tumor of Ear" EXACT [NCIT:C3000] -synonym: "tumor of ear" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of ear" EXACT [MONDO:patterns/neoplasm, NCIT:C3000] synonym: "tumor of the Ear" EXACT [NCIT:C3000] synonym: "tumour of Ear" EXACT OMO:0003005 [] synonym: "tumour of ear" EXACT OMO:0003005 [] @@ -472148,14 +472240,14 @@ name: external ear neoplasm def: "A neoplasm (disease) that involves the external ear." [MONDO:patterns/location] synonym: "external ear neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "external Ear tumor" EXACT [NCIT:C4652] -synonym: "external ear tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "external ear tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4652] synonym: "external Ear tumour" EXACT OMO:0003005 [] synonym: "external ear tumour" EXACT OMO:0003005 [] synonym: "neoplasm of external Ear" EXACT [NCIT:C4652] -synonym: "neoplasm of external ear" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of external ear" EXACT [MONDO:patterns/neoplasm, NCIT:C4652] synonym: "neoplasm of the external Ear" EXACT [NCIT:C4652] synonym: "tumor of external Ear" EXACT [NCIT:C4652] -synonym: "tumor of external ear" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of external ear" EXACT [MONDO:patterns/neoplasm, NCIT:C4652] synonym: "tumor of the external Ear" EXACT [NCIT:C4652] synonym: "tumour of external Ear" EXACT OMO:0003005 [] synonym: "tumour of external ear" EXACT OMO:0003005 [] @@ -472177,7 +472269,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "adrenal medulla neoplasm (disease)" EXACT [MONDO:patterns/location] -synonym: "adrenal medulla tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "adrenal medulla tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4856] synonym: "adrenal medulla tumour" EXACT OMO:0003005 [] synonym: "neoplasm of adrenal medulla" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of adrenal medulla" EXACT [MONDO:patterns/neoplasm] @@ -472221,22 +472313,22 @@ def: "A neoplasm (disease) that involves the urethra." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "neoplasm of the urethra" EXACT [NCIT:C3428] synonym: "neoplasm of urethra" EXACT [MONDO:patterns/neoplasm, NCIT:C3428] -synonym: "neoplasms. urethra" EXACT [NCIT:C3428] +synonym: "neoplasms. urethra" EXACT [] synonym: "tumor of the urethra" EXACT [NCIT:C3428] synonym: "tumor of urethra" EXACT [MONDO:patterns/neoplasm, NCIT:C3428] -synonym: "tumors. urethra" EXACT [NCIT:C3428] +synonym: "tumors. urethra" EXACT [] synonym: "tumour of the urethra" EXACT OMO:0003005 [] synonym: "tumour of urethra" EXACT OMO:0003005 [] synonym: "urethra neoplasm (disease)" EXACT [MONDO:patterns/location] -synonym: "urethra neoplasms" EXACT [NCIT:C3428] +synonym: "urethra neoplasms" EXACT [] synonym: "urethra tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3428] -synonym: "urethra tumors" EXACT [NCIT:C3428] +synonym: "urethra tumors" EXACT [] synonym: "urethra tumour" EXACT OMO:0003005 [] synonym: "urethra tumours" EXACT OMO:0003005 [] synonym: "urethral neoplasm" EXACT [NCIT:C3428] -synonym: "urethral neoplasms" EXACT [NCIT:C3428] +synonym: "urethral neoplasms" EXACT [] synonym: "urethral tumor" EXACT [NCIT:C3428] -synonym: "urethral tumors" EXACT [NCIT:C3428] +synonym: "urethral tumors" EXACT [] synonym: "urethral tumour" EXACT OMO:0003005 [] synonym: "urethral tumours" EXACT OMO:0003005 [] xref: EFO:0003846 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -472436,7 +472528,7 @@ synonym: "neoplasm of the nervous system" EXACT [NCIT:C3268] synonym: "nervous system neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "nervous system neoplasms" EXACT [NCIT:C3268] synonym: "nervous system tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3268] -synonym: "nervous system tumour" EXACT OMO:0003005 [] +synonym: "nervous system tumour" EXACT OMO:0003005 [NCIT:C3268] synonym: "tumor of nervous system" EXACT [MONDO:patterns/neoplasm, NCIT:C3268] synonym: "tumor of the nervous system" EXACT [NCIT:C3268] synonym: "tumour of nervous system" EXACT OMO:0003005 [] @@ -472459,10 +472551,10 @@ synonym: "lip neoplasms" EXACT [NCIT:C3191] synonym: "lip tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3191] synonym: "lip tumour" EXACT OMO:0003005 [] synonym: "neoplasm of Lip" EXACT [NCIT:C3191] -synonym: "neoplasm of lip" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of lip" EXACT [MONDO:patterns/neoplasm, NCIT:C3191] synonym: "neoplasm of the Lip" EXACT [NCIT:C3191] synonym: "tumor of Lip" EXACT [NCIT:C3191] -synonym: "tumor of lip" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of lip" EXACT [MONDO:patterns/neoplasm, NCIT:C3191] synonym: "tumor of the Lip" EXACT [NCIT:C3191] synonym: "tumour of Lip" EXACT OMO:0003005 [] synonym: "tumour of lip" EXACT OMO:0003005 [] @@ -472516,7 +472608,7 @@ synonym: "endometrium tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3012] synonym: "endometrium tumour" EXACT OMO:0003005 [] synonym: "neoplasm of endometrium" EXACT [MONDO:patterns/neoplasm, NCIT:C3012] synonym: "neoplasm of the endometrium" EXACT [NCIT:C3012] -synonym: "tumor of endometrium" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of endometrium" EXACT [MONDO:patterns/neoplasm, NCIT:C3012] synonym: "tumor of the endometrium" EXACT [NCIT:C3012] synonym: "tumour of endometrium" EXACT OMO:0003005 [] synonym: "tumour of the endometrium" EXACT OMO:0003005 [] @@ -472863,10 +472955,10 @@ subset: rare synonym: "immature teratoma of testis" EXACT [NCIT:C6353] synonym: "immature teratoma of the testis" EXACT [NCIT:C6353] synonym: "immature testicular teratoma" EXACT [NCIT:C6353] -synonym: "malignant teratoma of the testis" EXACT [NCIT:C6353] -synonym: "malignant testicular teratoma" EXACT [NCIT:C6353] +synonym: "malignant teratoma of the testis" EXACT [] +synonym: "malignant testicular teratoma" EXACT [] synonym: "testicular immature teratoma" EXACT [NCIT:C6353] -synonym: "testicular malignant teratoma" EXACT [NCIT:C6353] +synonym: "testicular malignant teratoma" EXACT [] synonym: "testis malignant teratoma" EXACT [MONDO:patterns/location] xref: icd11.foundation:1214355345 {source="MONDO:equivalentTo"} xref: ICD9:186.9 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -472885,11 +472977,11 @@ name: malignant teratoma of mediastinum def: "A malignant teratoma that involves the mediastinum." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "immature malignant teratoma of mediastinum" EXACT [NCIT:C4668] -synonym: "immature malignant teratoma of the mediastinum" EXACT [NCIT:C4668] -synonym: "malignant mediastinal teratoma" EXACT [NCIT:C4668] -synonym: "malignant teratoma of the mediastinum" EXACT [NCIT:C4668] -synonym: "mediastinal immature malignant teratoma" EXACT [NCIT:C4668] +synonym: "immature malignant teratoma of mediastinum" EXACT [] +synonym: "immature malignant teratoma of the mediastinum" EXACT [] +synonym: "malignant mediastinal teratoma" EXACT [] +synonym: "malignant teratoma of the mediastinum" EXACT [] +synonym: "mediastinal immature malignant teratoma" EXACT [] synonym: "mediastinum malignant teratoma" EXACT [MONDO:patterns/location] xref: MEDGEN:91164 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4668 {source="MONDO:equivalentTo"} @@ -472905,14 +472997,14 @@ id: MONDO:0021284 name: carcinoma in situ of ureter def: "A in situ carcinoma that involves the ureter." [MONDO:patterns/location] synonym: "carcinoma in situ of the ureter" EXACT [NCIT:C4529] -synonym: "carcinoma in situ of ureter" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of ureter" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4529] synonym: "stage 0 ureter carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "stage 0is carcinoma of the ureter" EXACT [NCIT:C4529] synonym: "stage 0is carcinoma of ureter" EXACT [NCIT:C4529] synonym: "stage 0is ureter cancer" EXACT [NCIT:C4529] synonym: "stage 0is ureter cancer aJCC v7" EXACT [NCIT:C4529] synonym: "stage 0is ureter carcinoma" EXACT [NCIT:C4529] -synonym: "stage 0is ureter urothelial cancer" EXACT [NCIT:C4529] +synonym: "stage 0is ureter urothelial cancer" EXACT [] synonym: "stage 0is ureter urothelial carcinoma" EXACT [NCIT:C4529] synonym: "stage 0is ureter urothelial carcinoma aJCC v7" EXACT [NCIT:C4529] synonym: "stage 0is ureteral carcinoma" EXACT [NCIT:C4529] @@ -472935,7 +473027,7 @@ id: MONDO:0021285 name: carcinoma in situ of urethra def: "A in situ carcinoma that involves the urethra." [MONDO:patterns/location] synonym: "carcinoma in situ of the urethra" EXACT [NCIT:C4531] -synonym: "carcinoma in situ of urethra" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of urethra" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4531] synonym: "stage 0 urethra carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] synonym: "stage 0is carcinoma of the urethra" EXACT [NCIT:C4531] synonym: "stage 0is carcinoma of urethra" EXACT [NCIT:C4531] @@ -472960,11 +473052,11 @@ intersection_of: disease_has_location UBERON:0000057 ! urethra id: MONDO:0021287 name: carcinoma in situ of epiglottis def: "A in situ carcinoma that involves the epiglottis." [MONDO:patterns/location] -synonym: "carcinoma in situ of epiglottis" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of epiglottis" EXACT [icd11.foundation:238950969, MONDO:patterns/carcinoma_in_situ, NCIT:C4592] synonym: "carcinoma in situ of the Epiglottis" EXACT [NCIT:C4592] -synonym: "epiglottic carcinoma in situ" EXACT [NCIT:C4592] +synonym: "epiglottic carcinoma in situ" EXACT [icd11.foundation:238950969, NCIT:C4592] synonym: "Epiglottis carcinoma in situ" EXACT [NCIT:C4592] -synonym: "epiglottis carcinoma in situ" EXACT [] +synonym: "epiglottis carcinoma in situ" EXACT [NCIT:C4592] synonym: "epiglottis in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 epiglottic carcinoma" EXACT [NCIT:C4592] synonym: "stage 0 epiglottic carcinoma aJCC v6" EXACT [NCIT:C4592] @@ -472988,7 +473080,7 @@ intersection_of: disease_has_location UBERON:0000388 ! epiglottis id: MONDO:0021288 name: carcinoma in situ of hypopharynx def: "A in situ carcinoma that involves the hypopharynx." [MONDO:patterns/location] -synonym: "carcinoma in situ of hypopharynx" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of hypopharynx" EXACT [icd11.foundation:591890094, MONDO:patterns/carcinoma_in_situ, NCIT:C9101] synonym: "carcinoma in situ of the hypopharynx" EXACT [NCIT:C9101] synonym: "hypopharyngeal carcinoma in situ" EXACT [NCIT:C9101] synonym: "hypopharynx carcinoma in situ" EXACT [NCIT:C9101] @@ -473001,7 +473093,7 @@ synonym: "stage 0 hypopharyngeal carcinoma aJCC v6" EXACT [NCIT:C9101] synonym: "stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8" EXACT [NCIT:C9101] synonym: "stage 0 hypopharyngeal carcinoma aJCC v7" EXACT [NCIT:C9101] synonym: "stage 0 hypopharyngeal carcinoma aJCC v8" EXACT [NCIT:C9101] -synonym: "stage 0 hypopharyngeal carcinoma in situ" EXACT [NCIT:C9101] +synonym: "stage 0 hypopharyngeal carcinoma in situ" EXACT [] synonym: "stage 0 hypopharyngeal throat cancer" EXACT [NCIT:C9101] synonym: "stage 0 hypopharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C9101] xref: icd11.foundation:591890094 {source="MONDO:equivalentTo"} @@ -473064,7 +473156,7 @@ intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix id: MONDO:0021291 name: carcinoma in situ of fundus of stomach def: "A in situ carcinoma that involves the fundus of stomach." [MONDO:patterns/location] -synonym: "carcinoma in situ of fundus of stomach" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of fundus of stomach" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4429] synonym: "carcinoma in situ of gastric fundus" EXACT [NCIT:C4429] synonym: "carcinoma in situ of the fundus of the stomach" EXACT [NCIT:C4429] synonym: "carcinoma in situ of the gastric fundus" EXACT [NCIT:C4429] @@ -473132,7 +473224,7 @@ id: MONDO:0021296 name: carcinoma in situ of renal pelvis def: "A in situ carcinoma that involves the renal pelvis." [MONDO:patterns/location] synonym: "carcinoma in situ of kidney pelvis" EXACT [NCIT:C4597] -synonym: "carcinoma in situ of renal pelvis" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of renal pelvis" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4597] synonym: "carcinoma in situ of the kidney pelvis" EXACT [NCIT:C4597] synonym: "carcinoma in situ of the renal pelvis" EXACT [NCIT:C4597] synonym: "kidney pelvis carcinoma in situ" EXACT [NCIT:C4597] @@ -473144,7 +473236,7 @@ synonym: "stage 0is carcinoma of renal pelvis" EXACT [NCIT:C4597] synonym: "stage 0is carcinoma of the kidney pelvis" EXACT [NCIT:C4597] synonym: "stage 0is carcinoma of the renal pelvis" EXACT [NCIT:C4597] synonym: "stage 0is kidney pelvis carcinoma" EXACT [NCIT:C4597] -synonym: "stage 0is kidney renal pelvis urothelial cancer" EXACT [NCIT:C4597] +synonym: "stage 0is kidney renal pelvis urothelial cancer" EXACT [] synonym: "stage 0is renal pelvis cancer" EXACT [NCIT:C4597] synonym: "stage 0is renal pelvis cancer aJCC v7" EXACT [NCIT:C4597] synonym: "stage 0is renal pelvis urothelial carcinoma" EXACT [NCIT:C4597] @@ -473166,9 +473258,9 @@ def: "A in situ carcinoma that involves the nasopharynx." [MONDO:patterns/locati subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "carcinoma in situ of nasopharynx" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of nasopharynx" EXACT [icd11.foundation:1626158287, MONDO:patterns/carcinoma_in_situ, NCIT:C9099] synonym: "carcinoma in situ of the nasopharynx" EXACT [NCIT:C9099] -synonym: "nasopharyngeal carcinoma in situ" EXACT [NCIT:C9099] +synonym: "nasopharyngeal carcinoma in situ" EXACT [icd11.foundation:1626158287, NCIT:C9099] synonym: "nasopharynx carcinoma in situ" EXACT [] synonym: "nasopharynx in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 carcinoma of nasopharynx" EXACT [NCIT:C9099] @@ -473179,7 +473271,7 @@ synonym: "stage 0 nasopharyngeal carcinoma aJCC v6" EXACT [NCIT:C9099] synonym: "stage 0 nasopharyngeal carcinoma aJCC v6, v7, and v8" EXACT [NCIT:C9099] synonym: "stage 0 nasopharyngeal carcinoma aJCC v7" EXACT [NCIT:C9099] synonym: "stage 0 nasopharyngeal carcinoma aJCC v8" EXACT [NCIT:C9099] -synonym: "stage 0 nasopharyngeal carcinoma in situ" EXACT [NCIT:C9099] +synonym: "stage 0 nasopharyngeal carcinoma in situ" EXACT [] synonym: "stage 0 nasopharyngeal throat cancer" EXACT [NCIT:C9099] synonym: "stage 0 nasopharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C9099] xref: icd11.foundation:1626158287 {source="MONDO:equivalentTo"} @@ -473196,10 +473288,10 @@ intersection_of: disease_has_location UBERON:0001728 ! nasopharynx id: MONDO:0021298 name: carcinoma in situ of oropharynx def: "A in situ carcinoma that involves the oropharynx." [MONDO:patterns/location] -synonym: "carcinoma in situ of oropharynx" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of oropharynx" EXACT [icd11.foundation:364791852, MONDO:patterns/carcinoma_in_situ, NCIT:C4590] synonym: "carcinoma in situ of the oropharynx" EXACT [NCIT:C4590] synonym: "oropharyngeal cancer stage 0" EXACT [NCIT:C4590] -synonym: "oropharyngeal carcinoma in situ" EXACT [NCIT:C4590] +synonym: "oropharyngeal carcinoma in situ" EXACT [icd11.foundation:364791852, NCIT:C4590] synonym: "oropharynx carcinoma in situ" EXACT [NCIT:C4590] synonym: "oropharynx in situ carcinoma" EXACT [MONDO:patterns/location] synonym: "stage 0 carcinoma of oropharynx" EXACT [NCIT:C4590] @@ -473209,7 +473301,7 @@ synonym: "stage 0 oropharyngeal carcinoma" EXACT [NCIT:C4590] synonym: "stage 0 oropharyngeal carcinoma aJCC v6" EXACT [NCIT:C4590] synonym: "stage 0 oropharyngeal carcinoma aJCC v6 and v7" EXACT [NCIT:C4590] synonym: "stage 0 oropharyngeal carcinoma aJCC v7" EXACT [NCIT:C4590] -synonym: "stage 0 oropharyngeal carcinoma in situ" EXACT [NCIT:C4590] +synonym: "stage 0 oropharyngeal carcinoma in situ" EXACT [] synonym: "stage 0 oropharyngeal throat cancer" EXACT [NCIT:C4590] synonym: "stage 0 oropharynx carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4590] xref: icd11.foundation:364791852 {source="MONDO:equivalentTo"} @@ -473228,7 +473320,7 @@ name: carcinoma in situ of extrahepatic bile duct def: "A in situ carcinoma that involves the extrahepatic bile duct." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "carcinoma in situ of extrahepatic bile duct" EXACT [MONDO:patterns/carcinoma_in_situ] +synonym: "carcinoma in situ of extrahepatic bile duct" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4442] synonym: "carcinoma in situ of extrahepatic bile ducts" EXACT [NCIT:C4442] synonym: "carcinoma in situ of extrahepatic biliary ducts" EXACT [NCIT:C4442] synonym: "carcinoma in situ of the extrahepatic bile duct" EXACT [NCIT:C4442] @@ -473240,7 +473332,7 @@ synonym: "stage 0 carcinoma of extrahepatic bile duct" EXACT [NCIT:C4442] synonym: "stage 0 carcinoma of the extrahepatic bile duct" EXACT [NCIT:C4442] synonym: "stage 0 extrahepatic bile duct cancer" EXACT [NCIT:C4442] synonym: "stage 0 extrahepatic bile duct carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ, NCIT:C4442] -synonym: "stage 0 extrahepatic bile duct carcinoma in situ" EXACT [NCIT:C4442] +synonym: "stage 0 extrahepatic bile duct carcinoma in situ" EXACT [] xref: MEDGEN:138028 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4442 {source="MONDO:equivalentTo"} xref: SCTID:92589000 {source="MONDO:equivalentTo"} @@ -473278,8 +473370,8 @@ def: "A adenoma that involves the nipple." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "adenoma of the nipple" EXACT [NCIT:C4192] synonym: "nipple adenoma" EXACT [MONDO:patterns/location, NCIT:C4192] -synonym: "papillomatosis, subareolar duct" EXACT [NCIT:C4192] -synonym: "subareolar duct papillomatosis" RELATED [NCIT:C4192] +synonym: "papillomatosis, subareolar duct" EXACT [] +synonym: "subareolar duct papillomatosis" RELATED [] xref: ICDO:8506/0 {source="NCIT:C4192"} xref: MEDGEN:137752 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4192 {source="MONDO:equivalentTo"} @@ -473328,7 +473420,7 @@ synonym: "malignant endocervical tumour" EXACT OMO:0003005 [] synonym: "malignant endocervix neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3553] synonym: "malignant endocervix tumor" EXACT [NCIT:C3553] synonym: "malignant endocervix tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of endocervix" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of endocervix" EXACT [ICD10CM:C53.0, MONDO:patterns/cancer, NCIT:C3553] synonym: "malignant neoplasm of the endocervix" EXACT [NCIT:C3553] synonym: "malignant neoplasm of the uterine endocervix" EXACT [NCIT:C3553] synonym: "malignant neoplasm of uterine endocervix" EXACT [NCIT:C3553] @@ -473384,7 +473476,7 @@ def: "A cancer that involves the parathyroid gland." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "cancer of parathyroid gland" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of parathyroid" EXACT [NCIT:C9322] -synonym: "malignant neoplasm of parathyroid gland" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of parathyroid gland" EXACT [MONDO:patterns/cancer, NCIT:C9322] synonym: "malignant neoplasm of the parathyroid" EXACT [NCIT:C9322] synonym: "malignant neoplasm of the parathyroid gland" EXACT [NCIT:C9322] synonym: "malignant parathyroid gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C9322] @@ -473426,7 +473518,7 @@ synonym: "malignant adrenal cortex tumour" EXACT OMO:0003005 [] synonym: "malignant adrenocortical neoplasm" EXACT [NCIT:C9327] synonym: "malignant adrenocortical tumor" EXACT [NCIT:C9327] synonym: "malignant adrenocortical tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of adrenal cortex" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of adrenal cortex" EXACT [MONDO:patterns/cancer, NCIT:C9327] synonym: "malignant neoplasm of the adrenal cortex" EXACT [NCIT:C9327] synonym: "malignant tumor of the adrenal cortex" EXACT [NCIT:C9327] synonym: "malignant tumour of the adrenal cortex" EXACT OMO:0003005 [] @@ -473482,7 +473574,7 @@ synonym: "malignant nasopharyngeal neoplasm" EXACT [NCIT:C9321] synonym: "malignant nasopharyngeal tumor" EXACT [NCIT:C9321] synonym: "malignant nasopharyngeal tumour" EXACT OMO:0003005 [] synonym: "malignant nasopharynx neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant neoplasm of nasopharynx" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of nasopharynx" EXACT [MONDO:patterns/cancer, NCIT:C9321] synonym: "malignant neoplasm of the nasopharynx" EXACT [NCIT:C9321] synonym: "malignant tumor of the nasopharynx" EXACT [NCIT:C9321] synonym: "malignant tumour of the nasopharynx" EXACT OMO:0003005 [] @@ -473524,7 +473616,7 @@ intersection_of: disease_has_location UBERON:0001830 ! minor salivary gland id: MONDO:0021317 name: cancer of cerebellum def: "A cancer that involves the cerebellum." [MONDO:patterns/location] -synonym: "cancer of cerebellum" EXACT [MONDO:patterns/cancer] +synonym: "cancer of cerebellum" EXACT [MONDO:patterns/cancer, NCIT:C3569] synonym: "cancer of the cerebellum" EXACT [NCIT:C3569] synonym: "cerebellar cancer" EXACT [NCIT:C3569] synonym: "cerebellar neoplasm, malignant" EXACT [NCIT:C3569] @@ -473618,7 +473710,7 @@ synonym: "cancer of meningeal cluster" EXACT [MONDO:patterns/cancer] synonym: "cancer of meninges" EXACT [NCIT:C4628] synonym: "cancer of the meninges" EXACT [NCIT:C4628] synonym: "malignant meningeal cluster neoplasm" EXACT [MONDO:patterns/cancer] -synonym: "malignant meningeal neoplasms" EXACT [NCIT:C4628] +synonym: "malignant meningeal neoplasms" EXACT [] synonym: "malignant meningeal tumor" EXACT [NCIT:C4628] synonym: "malignant meningeal tumour" EXACT OMO:0003005 [] synonym: "malignant meninges neoplasm" EXACT [NCIT:C4628] @@ -473651,7 +473743,7 @@ synonym: "chest wall cancer" EXACT [MONDO:patterns/location] synonym: "malignant chest wall neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C4580] synonym: "malignant chest wall tumor" EXACT [NCIT:C4580] synonym: "malignant chest wall tumour" EXACT OMO:0003005 [] -synonym: "malignant neoplasm of chest wall" EXACT [MONDO:patterns/cancer] +synonym: "malignant neoplasm of chest wall" EXACT [MONDO:patterns/cancer, NCIT:C4580] synonym: "malignant neoplasm of the chest wall" EXACT [NCIT:C4580] synonym: "malignant tumor of chest wall" EXACT [NCIT:C4580] synonym: "malignant tumor of the chest wall" EXACT [NCIT:C4580] @@ -473740,7 +473832,7 @@ name: carcinoma of urethra def: "A carcinoma that involves the urethra." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of the urethra" EXACT [NCIT:C9106] -synonym: "carcinoma of urethra" EXACT [MONDO:patterns/carcinoma] +synonym: "carcinoma of urethra" EXACT [MONDO:patterns/carcinoma, NCIT:C9106] synonym: "urethra carcinoma" EXACT [MONDO:patterns/location, NCIT:C9106] synonym: "urethral cancer" EXACT [NCIT:C9106] synonym: "urethral carcinoma" EXACT [NCIT:C9106] @@ -473759,7 +473851,7 @@ name: carcinoma of soft palate def: "A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas." [NCIT:C8395] synonym: "carcinoma of soft palate" EXACT [MONDO:patterns/carcinoma, NCIT:C8395] synonym: "carcinoma of the soft palate" EXACT [NCIT:C8395] -synonym: "soft palate cancer" BROAD [NCIT:C8395] +synonym: "soft palate cancer" BROAD [] synonym: "soft palate carcinoma" EXACT [MONDO:patterns/location, NCIT:C8395] xref: MEDGEN:87505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8395 {source="MONDO:equivalentTo"} @@ -473778,11 +473870,11 @@ name: carcinoma of parotid gland def: "A carcinoma that involves the parotid gland." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of parotid" EXACT [NCIT:C6791] -synonym: "carcinoma of parotid gland" EXACT [MONDO:patterns/carcinoma] +synonym: "carcinoma of parotid gland" EXACT [MONDO:patterns/carcinoma, NCIT:C6791] synonym: "carcinoma of the parotid" EXACT [NCIT:C6791] synonym: "carcinoma of the parotid gland" EXACT [NCIT:C6791] synonym: "parotid carcinoma" EXACT [NCIT:C6791] -synonym: "parotid gland cancer" BROAD [NCIT:C6791] +synonym: "parotid gland cancer" BROAD [] synonym: "parotid gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C6791] xref: EFO:1000460 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:91047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -473798,9 +473890,9 @@ intersection_of: disease_has_location UBERON:0001831 ! parotid gland id: MONDO:0021333 name: carcinoma of lip def: "A carcinoma that involves the lip." [MONDO:patterns/location] -synonym: "carcinoma of lip" EXACT [MONDO:patterns/carcinoma] +synonym: "carcinoma of lip" EXACT [MONDO:patterns/carcinoma, NCIT:C3490] synonym: "carcinoma of the Lip" EXACT [NCIT:C3490] -synonym: "lip cancer" BROAD [NCIT:C3490] +synonym: "lip cancer" BROAD [] synonym: "lip carcinoma" EXACT [MONDO:patterns/location, NCIT:C3490] xref: MEDGEN:56195 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C3490 {source="MONDO:equivalentTo"} @@ -473838,12 +473930,12 @@ def: "A carcinoma that involves the duodenum." [MONDO:patterns/location] subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cancer of duodenum" BROAD [NCIT:C4803] -synonym: "cancer of the duodenum" BROAD [NCIT:C4803] -synonym: "carcinoma of duodenum" EXACT [MONDO:patterns/carcinoma] +synonym: "cancer of duodenum" BROAD [] +synonym: "cancer of the duodenum" BROAD [] +synonym: "carcinoma of duodenum" EXACT [icd11.foundation:220022932, MONDO:patterns/carcinoma, NCIT:C4803] synonym: "carcinoma of the duodenum" EXACT [NCIT:C4803] -synonym: "duodenal cancer" BROAD [NCIT:C4803] -synonym: "duodenal carcinoma" EXACT [NCIT:C4803] +synonym: "duodenal cancer" BROAD [] +synonym: "duodenal carcinoma" EXACT [icd11.foundation:220022932, NCIT:C4803] synonym: "duodenum carcinoma" EXACT [MONDO:patterns/location] xref: icd11.foundation:220022932 {source="MONDO:equivalentTo"} xref: MEDGEN:107442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -473860,13 +473952,13 @@ id: MONDO:0021337 name: tonsil carcinoma def: "A carcinoma that involves the tonsil." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of the tonsil" BROAD [NCIT:C4825] -synonym: "cancer of tonsil" BROAD [NCIT:C4825] +synonym: "cancer of the tonsil" BROAD [] +synonym: "cancer of tonsil" BROAD [] synonym: "carcinoma of the tonsil" EXACT [NCIT:C4825] synonym: "carcinoma of tonsil" EXACT [MONDO:patterns/carcinoma, NCIT:C4825] -synonym: "tonsil cancer" BROAD [NCIT:C4825] -synonym: "tonsil carcinoma" EXACT [MONDO:patterns/location] -synonym: "tonsillar cancer" BROAD [NCIT:C4825] +synonym: "tonsil cancer" BROAD [] +synonym: "tonsil carcinoma" EXACT [MONDO:patterns/location, NCIT:C4825] +synonym: "tonsillar cancer" BROAD [] synonym: "tonsillar carcinoma" EXACT [NCIT:C4825] xref: MEDGEN:107535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4825 {source="MONDO:equivalentTo"} @@ -473882,7 +473974,7 @@ intersection_of: disease_has_location UBERON:0002372 ! tonsil id: MONDO:0021339 name: carcinoma of hard palate def: "A carcinoma that involves the hard palate." [MONDO:patterns/location] -synonym: "carcinoma of hard palate" EXACT [MONDO:patterns/carcinoma] +synonym: "carcinoma of hard palate" EXACT [MONDO:patterns/carcinoma, NCIT:C8394] synonym: "carcinoma of the hard palate" EXACT [NCIT:C8394] synonym: "hard palate carcinoma" EXACT [MONDO:patterns/location, NCIT:C8394] xref: MEDGEN:138019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -473918,7 +474010,7 @@ synonym: "carcinoma of mouth floor" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of the floor of the mouth" EXACT [NCIT:C9319] synonym: "floor of mouth carcinoma" EXACT [NCIT:C9319] synonym: "floor of the mouth carcinoma" EXACT [NCIT:C9319] -synonym: "mouth floor cancer" BROAD [NCIT:C9319] +synonym: "mouth floor cancer" BROAD [] synonym: "mouth floor carcinoma" EXACT [MONDO:patterns/location] xref: MEDGEN:756825 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9319 {source="MONDO:equivalentTo"} @@ -473935,7 +474027,7 @@ name: carcinoma of pharynx def: "A carcinoma that involves the pharynx." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "cancer of the pharynx" EXACT [NCIT:C9466] -synonym: "carcinoma of pharynx" EXACT [MONDO:patterns/carcinoma] +synonym: "carcinoma of pharynx" EXACT [MONDO:patterns/carcinoma, NCIT:C9466] synonym: "carcinoma of the pharynx" EXACT [NCIT:C9466] synonym: "pharyngeal carcinoma" EXACT [NCIT:C9466] synonym: "pharyngeal throat cancer" EXACT [NCIT:C9466] @@ -473952,7 +474044,7 @@ id: MONDO:0021348 name: neoplasm of testis def: "A neoplasm (disease) that involves the testis." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} -synonym: "neoplasm of testis" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of testis" EXACT [MONDO:patterns/neoplasm, NCIT:C3404] synonym: "neoplasm of the testis" EXACT [NCIT:C3404] synonym: "testicular neoplasm" EXACT [NCIT:C3404] synonym: "testicular tumor" EXACT [NCIT:C3404] @@ -474018,7 +474110,7 @@ synonym: "neck neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "neck neoplasms (Including All pharyngeal related neoplasms)" EXACT [NCIT:C3260] synonym: "neck tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3260] synonym: "neck tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of neck" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of neck" EXACT [MONDO:patterns/neoplasm, NCIT:C3260] synonym: "neoplasm of the neck" EXACT [NCIT:C3260] synonym: "tumor of neck" EXACT [MONDO:patterns/neoplasm, NCIT:C3260] synonym: "tumor of the neck" EXACT [NCIT:C3260] @@ -474039,9 +474131,9 @@ name: tumor of uterus def: "A neoplasm (disease) that involves the uterus." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "neoplasm of the uterus" EXACT [NCIT:C3435] -synonym: "neoplasm of uterus" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of uterus" EXACT [MONDO:patterns/neoplasm, NCIT:C3435] synonym: "tumor of the uterus" EXACT [NCIT:C3435] -synonym: "tumor of uterus" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of uterus" EXACT [MONDO:patterns/neoplasm, NCIT:C3435] synonym: "tumour of the uterus" EXACT OMO:0003005 [] synonym: "uterine neoplasm" EXACT [NCIT:C3435] synonym: "uterine neoplasms" EXACT [NCIT:C3435] @@ -474079,7 +474171,7 @@ synonym: "lipomatous tumor" EXACT [NCIT:C4248] synonym: "lipomatous tumour" EXACT OMO:0003005 [] synonym: "neoplasm of adipose tissue" EXACT [MONDO:patterns/neoplasm, NCIT:C4248] synonym: "neoplasm of the adipose tissue" EXACT [NCIT:C4248] -synonym: "tumor of adipose tissue" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of adipose tissue" EXACT [MONDO:patterns/neoplasm, NCIT:C4248] synonym: "tumor of the adipose tissue" EXACT [NCIT:C4248] synonym: "tumour of the adipose tissue" EXACT OMO:0003005 [] xref: ICD9:239.2 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -474105,7 +474197,7 @@ synonym: "esophageal tumours" EXACT OMO:0003005 [] synonym: "esophagus neoplasm" EXACT [NCIT:C3028] synonym: "esophagus neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "esophagus tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C3028] -synonym: "neoplasm of esophagus" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of esophagus" EXACT [MONDO:patterns/neoplasm, NCIT:C3028] synonym: "neoplasm of the esophagus" EXACT [NCIT:C3028] synonym: "neoplasm of the oesophagus" EXACT OMO:0003005 [] synonym: "oesophagus neoplasm" EXACT OMO:0003005 [] @@ -474166,7 +474258,7 @@ synonym: "hypopharynx neoplasm" EXACT [] synonym: "hypopharynx neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "hypopharynx tumor" EXACT [MONDO:patterns/neoplasm] synonym: "hypopharynx tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of hypopharynx" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of hypopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3127] synonym: "neoplasm of the hypopharynx" EXACT [NCIT:C3127] synonym: "tumor of hypopharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3127] synonym: "tumor of the hypopharynx" EXACT [NCIT:C3127] @@ -474187,7 +474279,7 @@ name: tumor of parathyroid gland def: "A neoplasm (disease) that involves the parathyroid gland." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "neoplasm of parathyroid" EXACT [NCIT:C3313] -synonym: "neoplasm of parathyroid gland" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of parathyroid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3313] synonym: "neoplasm of the parathyroid" EXACT [NCIT:C3313] synonym: "neoplasm of the parathyroid gland" EXACT [NCIT:C3313] synonym: "parathyroid gland neoplasm" EXACT [NCIT:C3313] @@ -474198,7 +474290,7 @@ synonym: "parathyroid neoplasm" EXACT [NCIT:C3313] synonym: "parathyroid tumor" EXACT [NCIT:C3313] synonym: "parathyroid tumour" EXACT OMO:0003005 [] synonym: "tumor of parathyroid" EXACT [NCIT:C3313] -synonym: "tumor of parathyroid gland" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of parathyroid gland" EXACT [MONDO:patterns/neoplasm, NCIT:C3313] synonym: "tumor of the parathyroid" EXACT [NCIT:C3313] synonym: "tumor of the parathyroid gland" EXACT [NCIT:C3313] synonym: "tumour of parathyroid" EXACT OMO:0003005 [] @@ -474218,7 +474310,7 @@ id: MONDO:0021364 name: neoplasm of oropharynx def: "A neoplasm (disease) that involves the oropharynx." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} -synonym: "neoplasm of oropharynx" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of oropharynx" EXACT [MONDO:patterns/neoplasm, NCIT:C3291] synonym: "neoplasm of the oropharynx" EXACT [NCIT:C3291] synonym: "oropharyngeal neoplasm" EXACT [NCIT:C3291] synonym: "oropharyngeal neoplasms" EXACT [NCIT:C3291] @@ -474248,16 +474340,16 @@ name: neoplasm of middle ear def: "A neoplasm (disease) that involves the middle ear." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "middle Ear neoplasm" EXACT [NCIT:C4412] -synonym: "middle ear neoplasm" EXACT [] +synonym: "middle ear neoplasm" EXACT [NCIT:C4412] synonym: "middle ear neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "middle Ear tumor" EXACT [NCIT:C4412] -synonym: "middle ear tumor" EXACT [MONDO:patterns/neoplasm] +synonym: "middle ear tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4412] synonym: "middle Ear tumour" EXACT OMO:0003005 [] synonym: "middle ear tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of middle ear" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of middle ear" EXACT [MONDO:patterns/neoplasm, NCIT:C4412] synonym: "neoplasm of the middle Ear" EXACT [NCIT:C4412] synonym: "tumor of middle Ear" EXACT [NCIT:C4412] -synonym: "tumor of middle ear" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of middle ear" EXACT [MONDO:patterns/neoplasm, NCIT:C4412] synonym: "tumor of the middle Ear" EXACT [NCIT:C4412] synonym: "tumour of middle Ear" EXACT OMO:0003005 [] synonym: "tumour of middle ear" EXACT OMO:0003005 [] @@ -474279,24 +474371,24 @@ def: "The phase of chronic myeloid leukemia following the chronic phase (leukemi subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Accelerated Phase Chronic Granulocytic Leukaemia" RELATED OMO:0003005 [] -synonym: "Accelerated Phase Chronic Granulocytic Leukemia" RELATED [NCIT:C3173] +synonym: "Accelerated Phase Chronic Granulocytic Leukemia" RELATED [] synonym: "Accelerated Phase Chronic Myelocytic Leukaemia" RELATED OMO:0003005 [] -synonym: "Accelerated Phase Chronic Myelocytic Leukemia" RELATED [NCIT:C3173] +synonym: "Accelerated Phase Chronic Myelocytic Leukemia" RELATED [] synonym: "Accelerated Phase Chronic Myelogenous Leukaemia" RELATED OMO:0003005 [] -synonym: "Accelerated Phase Chronic Myelogenous Leukemia" RELATED [NCIT:C3173] -synonym: "Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive" RELATED [NCIT:C3173] +synonym: "Accelerated Phase Chronic Myelogenous Leukemia" RELATED [] +synonym: "Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive" RELATED [] synonym: "Accelerated Phase Chronic Myeloid Leukaemia" RELATED OMO:0003005 [] synonym: "Accelerated phase chronic myeloid leukaemia" RELATED OMO:0003005 [] -synonym: "Accelerated Phase Chronic Myeloid Leukemia" RELATED [NCIT:C3173] +synonym: "Accelerated Phase Chronic Myeloid Leukemia" RELATED [] synonym: "Accelerated phase chronic myeloid leukemia" RELATED [UMLS:C0023472] -synonym: "Accelerated Phase CML" RELATED [NCIT:C3173] +synonym: "Accelerated Phase CML" RELATED [] synonym: "Aggressive-Phase Chronic Myelocytic Leukaemia" RELATED OMO:0003005 [] -synonym: "Aggressive-Phase Chronic Myelocytic Leukemia" RELATED [NCIT:C3173] +synonym: "Aggressive-Phase Chronic Myelocytic Leukemia" RELATED [] synonym: "Aggressive-Phase Chronic Myelogenous Leukaemia" RELATED OMO:0003005 [] -synonym: "Aggressive-Phase Chronic Myelogenous Leukemia" RELATED [NCIT:C3173] +synonym: "Aggressive-Phase Chronic Myelogenous Leukemia" RELATED [] synonym: "Aggressive-Phase Chronic Myeloid Leukaemia" RELATED OMO:0003005 [] -synonym: "Aggressive-Phase Chronic Myeloid Leukemia" RELATED [NCIT:C3173] -synonym: "Aggressive-Phase CML" RELATED [NCIT:C3173] +synonym: "Aggressive-Phase Chronic Myeloid Leukemia" RELATED [] +synonym: "Aggressive-Phase CML" RELATED [] synonym: "CML ACCELERATED" RELATED [MESH:D015465] synonym: "CML AGGRESSIVE" RELATED [MESH:D015465] synonym: "Leukemia, Myelogenous, Aggressive Phase" RELATED [MESH:D015465] @@ -474325,10 +474417,10 @@ synonym: "major salivary gland neoplasm" EXACT [NCIT:C4407] synonym: "major salivary gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "major salivary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4407] synonym: "major salivary gland tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of major salivary gland" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of major salivary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4407] synonym: "neoplasm of the Major salivary gland" EXACT [NCIT:C4407] synonym: "tumor of Major salivary gland" EXACT [NCIT:C4407] -synonym: "tumor of major salivary gland" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of major salivary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4407] synonym: "tumor of the Major salivary gland" EXACT [NCIT:C4407] synonym: "tumour of Major salivary gland" EXACT OMO:0003005 [] synonym: "tumour of major salivary gland" EXACT OMO:0003005 [] @@ -474350,7 +474442,7 @@ synonym: "minor salivary gland neoplasm" EXACT [NCIT:C4409] synonym: "minor salivary gland neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "minor salivary gland tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4409] synonym: "minor salivary gland tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of minor salivary gland" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of minor salivary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4409] synonym: "neoplasm of the minor salivary gland" EXACT [NCIT:C4409] synonym: "tumor of minor salivary gland" EXACT [MONDO:patterns/neoplasm, NCIT:C4409] synonym: "tumor of the minor salivary gland" EXACT [NCIT:C4409] @@ -474368,7 +474460,7 @@ intersection_of: disease_has_location UBERON:0001830 ! minor salivary gland id: MONDO:0021372 name: neoplasm of temporal lobe def: "A neoplasm (disease) that involves the temporal lobe." [MONDO:patterns/location] -synonym: "neoplasm of temporal lobe" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of temporal lobe" EXACT [MONDO:patterns/neoplasm, NCIT:C5567] synonym: "neoplasm of the temporal lobe" EXACT [NCIT:C5567] synonym: "temporal lobe neoplasm" EXACT [NCIT:C5567] synonym: "temporal lobe neoplasm (disease)" EXACT [MONDO:patterns/location] @@ -474390,13 +474482,13 @@ intersection_of: disease_has_location UBERON:0001871 ! temporal lobe id: MONDO:0021373 name: neoplasm of parietal lobe def: "A neoplasm (disease) that involves the parietal lobe." [MONDO:patterns/location] -synonym: "neoplasm of parietal lobe" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of parietal lobe" EXACT [MONDO:patterns/neoplasm, NCIT:C5573] synonym: "neoplasm of the parietal lobe" EXACT [NCIT:C5573] -synonym: "parietal lobe neoplasm" EXACT [] +synonym: "parietal lobe neoplasm" EXACT [NCIT:C5573] synonym: "parietal lobe neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "parietal lobe tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5573] synonym: "parietal lobe tumour" EXACT OMO:0003005 [] -synonym: "tumor of parietal lobe" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of parietal lobe" EXACT [MONDO:patterns/neoplasm, NCIT:C5573] synonym: "tumor of the parietal lobe" EXACT [NCIT:C5573] synonym: "tumour of parietal lobe" EXACT OMO:0003005 [] synonym: "tumour of the parietal lobe" EXACT OMO:0003005 [] @@ -474464,9 +474556,9 @@ synonym: "duodenum neoplasm" EXACT [] synonym: "duodenum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "duodenum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "duodenum tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of duodenum" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of duodenum" EXACT [MONDO:patterns/neoplasm, NCIT:C2995] synonym: "neoplasm of the duodenum" EXACT [NCIT:C2995] -synonym: "tumor of duodenum" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of duodenum" EXACT [MONDO:patterns/neoplasm, NCIT:C2995] synonym: "tumor of the duodenum" EXACT [NCIT:C2995] synonym: "tumour of the duodenum" EXACT OMO:0003005 [] xref: MEDGEN:8503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -474482,9 +474574,9 @@ intersection_of: disease_has_location UBERON:0002114 ! duodenum id: MONDO:0021377 name: hypertrophic lichen planus def: "A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring." [NCIT:C34779] -synonym: "Hypertrophic Lichen Planus" RELATED [NCIT:C34779] +synonym: "Hypertrophic Lichen Planus" RELATED [] synonym: "Hypertrophic lichen planus" RELATED [UMLS:C0023649] -synonym: "hypertrophic lichen planus" EXACT [NCIT:C34779] +synonym: "hypertrophic lichen planus" EXACT [icd11.foundation:1096967508, NCIT:C34779] synonym: "Lichen planus hypertrophicus" RELATED [UMLS:C0023649] synonym: "lichen planus hypertrophicus" RELATED [] xref: icd11.foundation:1096967508 {source="MONDO:equivalentTo"} @@ -474505,7 +474597,7 @@ synonym: "endocardium neoplasm" EXACT [] synonym: "endocardium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "endocardium tumor" EXACT [MONDO:patterns/neoplasm] synonym: "endocardium tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of endocardium" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of endocardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5346] synonym: "neoplasm of the endocardium" EXACT [NCIT:C5346] synonym: "tumor of endocardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5346] synonym: "tumor of the endocardium" EXACT [NCIT:C5346] @@ -474531,7 +474623,7 @@ synonym: "epicardium neoplasm" EXACT [] synonym: "epicardium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "epicardium tumor" EXACT [MONDO:patterns/neoplasm] synonym: "epicardium tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of epicardium" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of epicardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5347] synonym: "neoplasm of the epicardium" EXACT [NCIT:C5347] synonym: "tumor of epicardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5347] synonym: "tumor of the epicardium" EXACT [NCIT:C5347] @@ -474558,9 +474650,9 @@ synonym: "myocardium neoplasm" EXACT [] synonym: "myocardium neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "myocardium tumor" EXACT [MONDO:patterns/neoplasm] synonym: "myocardium tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of myocardium" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of myocardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5349] synonym: "neoplasm of the myocardium" EXACT [NCIT:C5349] -synonym: "tumor of myocardium" EXACT [MONDO:patterns/neoplasm] +synonym: "tumor of myocardium" EXACT [MONDO:patterns/neoplasm, NCIT:C5349] synonym: "tumor of the myocardium" EXACT [NCIT:C5349] synonym: "tumour of myocardium" EXACT OMO:0003005 [] synonym: "tumour of the myocardium" EXACT OMO:0003005 [] @@ -474578,7 +474670,7 @@ id: MONDO:0021381 name: neoplasm of pericardium def: "A neoplasm (disease) that involves the pericardium." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} -synonym: "neoplasm of pericardium" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of pericardium" EXACT [MONDO:patterns/neoplasm, NCIT:C4651] synonym: "neoplasm of the pericardium" EXACT [NCIT:C4651] synonym: "pericardial neoplasm" EXACT [NCIT:C4651] synonym: "pericardial tumor" EXACT [NCIT:C4651] @@ -474662,14 +474754,14 @@ name: neoplasm of mediastinum def: "A neoplasm (disease) that involves the mediastinum." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "mediastinal neoplasm" EXACT [NCIT:C3221] -synonym: "mediastinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3221] +synonym: "mediastinal neoplasm NOS" RELATED EXCLUDE [] synonym: "mediastinal tumor" EXACT [NCIT:C3221] synonym: "mediastinal tumour" EXACT OMO:0003005 [] synonym: "mediastinum neoplasm" EXACT [] synonym: "mediastinum neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "mediastinum tumor" EXACT [MONDO:patterns/neoplasm] synonym: "mediastinum tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of mediastinum" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of mediastinum" EXACT [MONDO:patterns/neoplasm, NCIT:C3221] synonym: "neoplasm of the mediastinum" EXACT [NCIT:C3221] synonym: "tumor of mediastinum" EXACT [MONDO:patterns/neoplasm, NCIT:C3221] synonym: "tumor of the mediastinum" EXACT [NCIT:C3221] @@ -474692,7 +474784,7 @@ synonym: "chest wall neoplasm" EXACT [NCIT:C4929] synonym: "chest wall neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "chest wall tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4929] synonym: "chest wall tumour" EXACT OMO:0003005 [] -synonym: "neoplasm of chest wall" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of chest wall" EXACT [MONDO:patterns/neoplasm, NCIT:C4929] synonym: "neoplasm of the chest wall" EXACT [NCIT:C4929] synonym: "tumor of chest wall" EXACT [MONDO:patterns/neoplasm, NCIT:C4929] synonym: "tumor of the chest wall" EXACT [NCIT:C4929] @@ -474719,7 +474811,7 @@ synonym: "aortic body paraganglioma" EXACT [NCIT:C4218] synonym: "aortic body tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C4218] synonym: "aortic body tumour" EXACT OMO:0003005 [] synonym: "aorticopulmonary paraganglioma" EXACT [NCIT:C4218] -synonym: "neoplasm of aortic body" EXACT [MONDO:patterns/neoplasm] +synonym: "neoplasm of aortic body" EXACT [MONDO:patterns/neoplasm, NCIT:C4218] synonym: "neoplasm of the aortic body" EXACT [NCIT:C4218] synonym: "paraganglioma of aortic body" EXACT [NCIT:C4218] synonym: "paraganglioma of the aortic body" EXACT [NCIT:C4218] @@ -474742,8 +474834,8 @@ id: MONDO:0021390 name: polyp of ureter def: "A polyp that involves the ureter." [MONDO:patterns/location] synonym: "polyp of the ureter" EXACT [NCIT:C4530] -synonym: "ureter polyp" EXACT [MONDO:patterns/location, NCIT:C4530] -synonym: "ureteral polyp" EXACT [NCIT:C4530] +synonym: "ureter polyp" EXACT [icd11.foundation:134277787, MONDO:patterns/location, NCIT:C4530] +synonym: "ureteral polyp" EXACT [icd11.foundation:134277787, NCIT:C4530] xref: icd11.foundation:134277787 {source="MONDO:equivalentTo"} xref: ICD9:593.89 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:138051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -474760,7 +474852,7 @@ id: MONDO:0021392 name: polyp of large intestine def: "A polyp that involves the large intestine." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} -synonym: "colorectal polyp" EXACT [NCIT:C5679] +synonym: "colorectal polyp" EXACT [icd11.foundation:537826614, NCIT:C5679] synonym: "large bowel polyp" EXACT [NCIT:C5679] synonym: "large intestine polyp" EXACT [MONDO:patterns/location, NCIT:C5679] synonym: "polyp of large bowel" EXACT [NCIT:C5679] @@ -474782,7 +474874,7 @@ def: "A polyp that involves the vagina." [MONDO:patterns/location] synonym: "polyp of the vagina" EXACT [NCIT:C3664] synonym: "polyp, vaginal, benign" EXACT [NCIT:C3664] synonym: "vagina polyp" EXACT [MONDO:patterns/location] -synonym: "vaginal polyp" EXACT [NCIT:C3664] +synonym: "vaginal polyp" EXACT [icd11.foundation:1664143745, NCIT:C3664] xref: ICD10CM:N84.2 {source="MONDO:equivalentTo"} xref: icd11.foundation:1664143745 {source="MONDO:equivalentTo"} xref: ICD9:623.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -474886,7 +474978,7 @@ intersection_of: disease_has_location UBERON:0001724 ! sphenoidal sinus id: MONDO:0021408 name: polyp of frontal sinus def: "A polyp that involves the frontal sinus." [MONDO:patterns/location] -synonym: "frontal sinus polyp" EXACT [MONDO:patterns/location, NCIT:C4367] +synonym: "frontal sinus polyp" EXACT [icd11.foundation:1462900314, MONDO:patterns/location, NCIT:C4367] synonym: "polyp of the frontal sinus" EXACT [NCIT:C4367] xref: icd11.foundation:1462900314 {source="MONDO:equivalentTo"} xref: ICD9:471.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -474957,7 +475049,7 @@ def: "A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually subset: otar {source="MONDO:OTAR"} synonym: "laryngeal vocal fold polyp" EXACT [MONDO:patterns/location] synonym: "polyp of the vocal cord" EXACT [NCIT:C3440] -synonym: "vocal cord polyp" EXACT [NCIT:C3440] +synonym: "vocal cord polyp" EXACT [icd11.foundation:1351291002, NCIT:C3440] xref: EFO:0009478 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1351291002 {source="MONDO:equivalentTo"} xref: MEDGEN:21887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -475004,7 +475096,7 @@ synonym: "lip scc" EXACT [NCIT:C4042] synonym: "lip squamous cell carcinoma" EXACT [MONDO:patterns/location, NCIT:C4042] synonym: "scc of Lip" EXACT [NCIT:C4042] synonym: "scc of the Lip" EXACT [NCIT:C4042] -synonym: "squamous cell carcinoma of the Lip" EXACT [NCIT:C4042] +synonym: "squamous cell carcinoma of the Lip" EXACT [NCIT:C4042, Orphanet:502366] xref: GARD:17933 {source="MONDO:GARD"} xref: icd11.foundation:1635251327 {source="MONDO:equivalentTo", source="Orphanet:502366"} xref: MEDGEN:79099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -475083,7 +475175,7 @@ subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare synonym: "benign neoplasm of pituitary" EXACT [NCIT:C4782] -synonym: "benign neoplasm of the pituitary" EXACT [NCIT:C4782] +synonym: "benign neoplasm of the pituitary" EXACT [icd11.foundation:1871539651, NCIT:C4782] synonym: "benign neoplasm of the pituitary gland" EXACT [NCIT:C4782] synonym: "benign pituitary gland neoplasm" EXACT [NCIT:C4782] synonym: "benign pituitary gland tumor" EXACT [NCIT:C4782] @@ -475096,10 +475188,10 @@ synonym: "benign tumor of pituitary gland" EXACT [NCIT:C4782] synonym: "benign tumor of the pituitary" EXACT [NCIT:C4782] synonym: "benign tumor of the pituitary gland" EXACT [NCIT:C4782] synonym: "benign tumour of pituitary" EXACT OMO:0003005 [] -synonym: "benign tumour of pituitary gland" EXACT OMO:0003005 [] +synonym: "benign tumour of pituitary gland" EXACT OMO:0003005 [icd11.foundation:1871539651] synonym: "benign tumour of the pituitary" EXACT OMO:0003005 [] synonym: "benign tumour of the pituitary gland" EXACT OMO:0003005 [] -synonym: "pituitary gland benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "pituitary gland benign neoplasm" EXACT [DOID:60009, MONDO:patterns/location] synonym: "pituitary neoplasms, benign" EXACT [NCIT:C4782] synonym: "pituitary tumor, benign" EXACT [NCIT:C4782] xref: DOID:60009 {source="MONDO:equivalentTo"} @@ -475148,7 +475240,7 @@ intersection_of: disease_has_location UBERON:0000014 ! zone of skin id: MONDO:0021441 name: benign neoplasm of exocrine pancreas def: "A benign neoplasm that involves the exocrine pancreas." [MONDO:patterns/location] -synonym: "benign exocrine pancreas neoplasm" EXACT [NCIT:C4613] +synonym: "benign exocrine pancreas neoplasm" EXACT [DOID:0080781, NCIT:C4613] synonym: "benign exocrine pancreas tumor" EXACT [NCIT:C4613] synonym: "benign exocrine pancreas tumour" EXACT OMO:0003005 [] synonym: "benign exocrine pancreatic neoplasm" EXACT [NCIT:C4613] @@ -475175,7 +475267,7 @@ def: "A benign neoplasm that involves the lymph node." [MONDO:patterns/location] subset: inferred_rare subset: rare synonym: "benign lymph node neoplasm" EXACT [NCIT:C3636] -synonym: "benign lymph node neoplasm NOS" RELATED EXCLUDE [NCIT:C3636] +synonym: "benign lymph node neoplasm NOS" RELATED EXCLUDE [] synonym: "benign lymph node tumor" EXACT [NCIT:C3636] synonym: "benign lymph node tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the lymph node" EXACT [NCIT:C3636] @@ -475183,7 +475275,7 @@ synonym: "benign tumor of lymph node" EXACT [NCIT:C3636] synonym: "benign tumor of the lymph node" EXACT [NCIT:C3636] synonym: "benign tumour of lymph node" EXACT OMO:0003005 [] synonym: "benign tumour of the lymph node" EXACT OMO:0003005 [] -synonym: "lymph node benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "lymph node benign neoplasm" EXACT [DOID:0080617, MONDO:patterns/location] xref: DOID:0080617 {source="MONDO:equivalentTo"} xref: ICD9:229.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:57815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -475273,7 +475365,7 @@ intersection_of: disease_has_location UBERON:0000167 ! oral cavity id: MONDO:0021446 name: benign neoplasm of epiglottis def: "A benign neoplasm that involves the epiglottis." [MONDO:patterns/location] -synonym: "benign epiglottic neoplasm" EXACT [NCIT:C4606] +synonym: "benign epiglottic neoplasm" EXACT [icd11.foundation:1549564600, NCIT:C4606] synonym: "benign epiglottic tumor" EXACT [NCIT:C4606] synonym: "benign epiglottic tumour" EXACT OMO:0003005 [] synonym: "benign Epiglottis neoplasm" EXACT [NCIT:C4606] @@ -475300,12 +475392,12 @@ id: MONDO:0021447 name: benign neoplasm of testis def: "A benign neoplasm that involves the testis." [MONDO:patterns/location] synonym: "benign neoplasm of the testis" EXACT [NCIT:C3612] -synonym: "benign testicular neoplasm" EXACT [NCIT:C3612] +synonym: "benign testicular neoplasm" EXACT [icd11.foundation:815021426, NCIT:C3612] synonym: "benign testicular tumor" EXACT [NCIT:C3612] -synonym: "benign testicular tumour" EXACT OMO:0003005 [] +synonym: "benign testicular tumour" EXACT OMO:0003005 [icd11.foundation:815021426] synonym: "benign tumor of testis" EXACT [NCIT:C3612] synonym: "benign tumor of the testis" EXACT [NCIT:C3612] -synonym: "benign tumour of testis" EXACT OMO:0003005 [] +synonym: "benign tumour of testis" EXACT OMO:0003005 [icd11.foundation:815021426] synonym: "benign tumour of the testis" EXACT OMO:0003005 [] synonym: "testis benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:815021426 {source="MONDO:equivalentTo"} @@ -475337,7 +475429,7 @@ synonym: "benign tumor of stomach" EXACT [NCIT:C3599] synonym: "benign tumor of the stomach" EXACT [NCIT:C3599] synonym: "benign tumors of stomach" EXACT [NCIT:C3599] synonym: "benign tumors of the stomach" EXACT [NCIT:C3599] -synonym: "benign tumour of stomach" EXACT OMO:0003005 [] +synonym: "benign tumour of stomach" EXACT OMO:0003005 [icd11.foundation:479576735] synonym: "benign tumour of the stomach" EXACT OMO:0003005 [] synonym: "benign tumours of stomach" EXACT OMO:0003005 [] synonym: "benign tumours of the stomach" EXACT OMO:0003005 [] @@ -475362,7 +475454,7 @@ intersection_of: disease_has_location UBERON:0000945 ! stomach id: MONDO:0021450 name: benign neoplasm of heart def: "A benign neoplasm that involves the heart." [MONDO:patterns/location] -synonym: "benign Cardiac neoplasm" EXACT [NCIT:C3605] +synonym: "benign Cardiac neoplasm" EXACT [icd11.foundation:991198048, NCIT:C3605] synonym: "benign Cardiac tumor" EXACT [NCIT:C3605] synonym: "benign Cardiac tumour" EXACT OMO:0003005 [] synonym: "benign heart neoplasm" EXACT [NCIT:C3605] @@ -475418,13 +475510,13 @@ def: "A benign neoplasm that involves the cornea." [MONDO:patterns/location] synonym: "benign cornea neoplasm" EXACT [NCIT:C3623] synonym: "benign cornea tumor" EXACT [NCIT:C3623] synonym: "benign cornea tumour" EXACT OMO:0003005 [] -synonym: "benign corneal neoplasm" EXACT [NCIT:C3623] +synonym: "benign corneal neoplasm" EXACT [icd11.foundation:568257604, NCIT:C3623] synonym: "benign corneal tumor" EXACT [NCIT:C3623] synonym: "benign corneal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the cornea" EXACT [NCIT:C3623] synonym: "benign tumor of cornea" EXACT [NCIT:C3623] synonym: "benign tumor of the cornea" EXACT [NCIT:C3623] -synonym: "benign tumour of cornea" EXACT OMO:0003005 [] +synonym: "benign tumour of cornea" EXACT OMO:0003005 [icd11.foundation:568257604] synonym: "benign tumour of the cornea" EXACT OMO:0003005 [] synonym: "cornea benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:568257604 {source="MONDO:equivalentTo"} @@ -475446,12 +475538,12 @@ synonym: "benign neoplasm of the retina" EXACT [NCIT:C3624] synonym: "benign retina neoplasm" EXACT [NCIT:C3624] synonym: "benign retina tumor" EXACT [NCIT:C3624] synonym: "benign retina tumour" EXACT OMO:0003005 [] -synonym: "benign retinal neoplasm" EXACT [NCIT:C3624] +synonym: "benign retinal neoplasm" EXACT [icd11.foundation:1433648317, NCIT:C3624] synonym: "benign retinal tumor" EXACT [NCIT:C3624] -synonym: "benign retinal tumour" EXACT OMO:0003005 [] +synonym: "benign retinal tumour" EXACT OMO:0003005 [icd11.foundation:1433648317] synonym: "benign tumor of retina" EXACT [NCIT:C3624] synonym: "benign tumor of the retina" EXACT [NCIT:C3624] -synonym: "benign tumour of retina" EXACT OMO:0003005 [] +synonym: "benign tumour of retina" EXACT OMO:0003005 [icd11.foundation:1433648317] synonym: "benign tumour of the retina" EXACT OMO:0003005 [] synonym: "retina benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:1433648317 {source="MONDO:equivalentTo"} @@ -475542,12 +475634,12 @@ id: MONDO:0021457 name: benign neoplasm of pleura def: "A benign neoplasm that involves the pleura." [MONDO:patterns/location] synonym: "benign neoplasm of the pleura" EXACT [NCIT:C3603] -synonym: "benign pleural neoplasm" EXACT [NCIT:C3603] +synonym: "benign pleural neoplasm" EXACT [icd11.foundation:2142393865, NCIT:C3603] synonym: "benign pleural tumor" EXACT [NCIT:C3603] synonym: "benign pleural tumour" EXACT OMO:0003005 [] synonym: "benign tumor of pleura" EXACT [NCIT:C3603] synonym: "benign tumor of the pleura" EXACT [NCIT:C3603] -synonym: "benign tumour of pleura" EXACT OMO:0003005 [] +synonym: "benign tumour of pleura" EXACT OMO:0003005 [icd11.foundation:2142393865] synonym: "benign tumour of the pleura" EXACT OMO:0003005 [] synonym: "pleura benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:2142393865 {source="MONDO:equivalentTo"} @@ -475651,7 +475743,7 @@ synonym: "benign hypopharyngeal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the hypopharynx" EXACT [NCIT:C3596] synonym: "benign tumor of hypopharynx" EXACT [NCIT:C3596] synonym: "benign tumor of the hypopharynx" EXACT [NCIT:C3596] -synonym: "benign tumour of hypopharynx" EXACT OMO:0003005 [] +synonym: "benign tumour of hypopharynx" EXACT OMO:0003005 [icd11.foundation:196557985] synonym: "benign tumour of the hypopharynx" EXACT OMO:0003005 [] synonym: "hypopharyngeal neoplasm, benign" EXACT [NCIT:C3596] synonym: "hypopharynx benign neoplasm" EXACT [MONDO:patterns/location] @@ -475674,7 +475766,7 @@ name: benign neoplasm of rectum def: "A benign neoplasm that involves the rectum." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "benign neoplasm of the rectum" EXACT [NCIT:C4774] -synonym: "benign rectal neoplasm" EXACT [NCIT:C4774] +synonym: "benign rectal neoplasm" EXACT [icd11.foundation:1805730142, NCIT:C4774] synonym: "benign rectal neoplasms" EXACT [NCIT:C4774] synonym: "benign rectal tumor" EXACT [NCIT:C4774] synonym: "benign rectal tumors" EXACT [NCIT:C4774] @@ -475682,7 +475774,7 @@ synonym: "benign rectal tumour" EXACT OMO:0003005 [] synonym: "benign rectal tumours" EXACT OMO:0003005 [] synonym: "benign tumor of rectum" EXACT [NCIT:C4774] synonym: "benign tumor of the rectum" EXACT [NCIT:C4774] -synonym: "benign tumour of rectum" EXACT OMO:0003005 [] +synonym: "benign tumour of rectum" EXACT OMO:0003005 [icd11.foundation:1805730142] synonym: "benign tumour of the rectum" EXACT OMO:0003005 [] synonym: "rectal neoplasms, benign" EXACT [NCIT:C4774] synonym: "rectal tumors, benign" EXACT [NCIT:C4774] @@ -475709,7 +475801,7 @@ synonym: "benign neoplasm of the parathyroid gland" EXACT [NCIT:C3630] synonym: "benign parathyroid gland neoplasm" EXACT [NCIT:C3630] synonym: "benign parathyroid gland tumor" EXACT [NCIT:C3630] synonym: "benign parathyroid gland tumour" EXACT OMO:0003005 [] -synonym: "benign parathyroid neoplasm" EXACT [NCIT:C3630] +synonym: "benign parathyroid neoplasm" EXACT [icd11.foundation:455097662, NCIT:C3630] synonym: "benign parathyroid tumor" EXACT [NCIT:C3630] synonym: "benign parathyroid tumour" EXACT OMO:0003005 [] synonym: "benign tumor of parathyroid" EXACT [NCIT:C3630] @@ -475717,10 +475809,10 @@ synonym: "benign tumor of parathyroid gland" EXACT [NCIT:C3630] synonym: "benign tumor of the parathyroid" EXACT [NCIT:C3630] synonym: "benign tumor of the parathyroid gland" EXACT [NCIT:C3630] synonym: "benign tumour of parathyroid" EXACT OMO:0003005 [] -synonym: "benign tumour of parathyroid gland" EXACT OMO:0003005 [] +synonym: "benign tumour of parathyroid gland" EXACT OMO:0003005 [icd11.foundation:455097662] synonym: "benign tumour of the parathyroid" EXACT OMO:0003005 [] synonym: "benign tumour of the parathyroid gland" EXACT OMO:0003005 [] -synonym: "parathyroid gland benign neoplasm" EXACT [MONDO:patterns/location] +synonym: "parathyroid gland benign neoplasm" EXACT [DOID:60008, MONDO:patterns/location] synonym: "parathyroid tumor benign" EXACT [NCIT:C3630] synonym: "parathyroid tumour benign" EXACT OMO:0003005 [] xref: DOID:60008 {source="MONDO:equivalentTo"} @@ -475769,7 +475861,7 @@ synonym: "benign appendix tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the appendix" EXACT [NCIT:C4773] synonym: "benign tumor of appendix" EXACT [NCIT:C4773] synonym: "benign tumor of the appendix" EXACT [NCIT:C4773] -synonym: "benign tumour of appendix" EXACT OMO:0003005 [] +synonym: "benign tumour of appendix" EXACT OMO:0003005 [icd11.foundation:7146014] synonym: "benign tumour of the appendix" EXACT OMO:0003005 [] synonym: "vermiform appendix benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D12.1 {source="MONDO:equivalentTo"} @@ -475786,14 +475878,14 @@ intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix id: MONDO:0021467 name: benign neoplasm of renal pelvis def: "A benign neoplasm that involves the renal pelvis." [MONDO:patterns/location] -synonym: "benign kidney pelvis neoplasm" EXACT [NCIT:C3616] +synonym: "benign kidney pelvis neoplasm" EXACT [icd11.foundation:1025909955, NCIT:C3616] synonym: "benign neoplasm of the renal pelvis" EXACT [NCIT:C3616] synonym: "benign renal pelvis neoplasm" EXACT [NCIT:C3616] synonym: "benign renal pelvis tumor" EXACT [NCIT:C3616] synonym: "benign renal pelvis tumour" EXACT OMO:0003005 [] synonym: "benign tumor of renal pelvis" EXACT [NCIT:C3616] synonym: "benign tumor of the renal pelvis" EXACT [NCIT:C3616] -synonym: "benign tumour of renal pelvis" EXACT OMO:0003005 [] +synonym: "benign tumour of renal pelvis" EXACT OMO:0003005 [icd11.foundation:1025909955] synonym: "benign tumour of the renal pelvis" EXACT OMO:0003005 [] synonym: "renal pelvis benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:1025909955 {source="MONDO:equivalentTo"} @@ -475820,7 +475912,7 @@ synonym: "benign adrenal medulla tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the adrenal medulla" EXACT [NCIT:C4895] synonym: "benign tumor of adrenal medulla" EXACT [NCIT:C4895] synonym: "benign tumor of the adrenal medulla" EXACT [NCIT:C4895] -synonym: "benign tumour of adrenal medulla" EXACT OMO:0003005 [] +synonym: "benign tumour of adrenal medulla" EXACT OMO:0003005 [icd11.foundation:1573786673] synonym: "benign tumour of the adrenal medulla" EXACT OMO:0003005 [] xref: icd11.foundation:1573786673 {source="MONDO:equivalentTo"} xref: MEDGEN:151941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -475863,13 +475955,13 @@ synonym: "benign neoplasm of the pancreas" EXACT [NCIT:C4612] synonym: "benign pancreas neoplasm" EXACT [NCIT:C4612] synonym: "benign pancreas tumor" EXACT [NCIT:C4612] synonym: "benign pancreas tumour" EXACT OMO:0003005 [] -synonym: "benign pancreatic neoplasm" EXACT [NCIT:C4612] -synonym: "benign pancreatic neoplasm NOS" RELATED EXCLUDE [NCIT:C4612] +synonym: "benign pancreatic neoplasm" EXACT [icd11.foundation:1870352651, NCIT:C4612] +synonym: "benign pancreatic neoplasm NOS" RELATED EXCLUDE [] synonym: "benign pancreatic tumor" EXACT [NCIT:C4612] synonym: "benign pancreatic tumour" EXACT OMO:0003005 [] synonym: "benign tumor of pancreas" EXACT [NCIT:C4612] synonym: "benign tumor of the pancreas" EXACT [NCIT:C4612] -synonym: "benign tumour of pancreas" EXACT OMO:0003005 [] +synonym: "benign tumour of pancreas" EXACT OMO:0003005 [icd11.foundation:1870352651] synonym: "benign tumour of the pancreas" EXACT OMO:0003005 [] synonym: "pancreas benign neoplasm" EXACT [MONDO:patterns/location] synonym: "pancreas neoplasm, benign" EXACT [NCIT:C4612] @@ -475918,7 +476010,7 @@ id: MONDO:0021472 name: benign neoplasm of scrotum def: "A benign neoplasm that involves the scrotum." [MONDO:patterns/location] synonym: "benign neoplasm of the scrotum" EXACT [NCIT:C3615] -synonym: "benign scrotal neoplasm" EXACT [NCIT:C3615] +synonym: "benign scrotal neoplasm" EXACT [icd11.foundation:640770928, NCIT:C3615] synonym: "benign scrotal tumor" EXACT [NCIT:C3615] synonym: "benign scrotal tumour" EXACT OMO:0003005 [] synonym: "benign tumor of scrotum" EXACT [NCIT:C3615] @@ -475941,13 +476033,13 @@ intersection_of: disease_has_location UBERON:0001300 ! scrotum id: MONDO:0021473 name: benign neoplasm of epididymis def: "A benign neoplasm that involves the epididymis." [MONDO:patterns/location] -synonym: "benign epididymal neoplasm" EXACT [NCIT:C3614] +synonym: "benign epididymal neoplasm" EXACT [icd11.foundation:1440739556, NCIT:C3614] synonym: "benign epididymal tumor" EXACT [NCIT:C3614] synonym: "benign epididymal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the epididymis" EXACT [NCIT:C3614] synonym: "benign tumor of epididymis" EXACT [NCIT:C3614] synonym: "benign tumor of the epididymis" EXACT [NCIT:C3614] -synonym: "benign tumour of epididymis" EXACT OMO:0003005 [] +synonym: "benign tumour of epididymis" EXACT OMO:0003005 [icd11.foundation:1440739556] synonym: "benign tumour of the epididymis" EXACT OMO:0003005 [] synonym: "epididymis benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:1440739556 {source="MONDO:equivalentTo"} @@ -475992,7 +476084,7 @@ synonym: "benign nasal cavity tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the nasal cavity" EXACT [NCIT:C4603] synonym: "benign tumor of nasal cavity" EXACT [NCIT:C4603] synonym: "benign tumor of the nasal cavity" EXACT [NCIT:C4603] -synonym: "benign tumour of nasal cavity" EXACT OMO:0003005 [] +synonym: "benign tumour of nasal cavity" EXACT OMO:0003005 [icd11.foundation:44101401] synonym: "benign tumour of the nasal cavity" EXACT OMO:0003005 [] synonym: "nasal cavity benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:44101401 {source="MONDO:equivalentTo"} @@ -476017,7 +476109,7 @@ synonym: "benign tongue tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the tongue" EXACT [NCIT:C3592] synonym: "benign tumor of tongue" EXACT [NCIT:C3592] synonym: "benign tumour of the tongue" EXACT OMO:0003005 [] -synonym: "benign tumour of tongue" EXACT OMO:0003005 [] +synonym: "benign tumour of tongue" EXACT OMO:0003005 [icd11.foundation:487744161] synonym: "tongue benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tongue neoplasm, benign" EXACT [NCIT:C3592] xref: ICD10CM:D10.1 {source="MONDO:equivalentTo"} @@ -476075,7 +476167,7 @@ synonym: "benign nasopharyngeal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the nasopharynx" EXACT [NCIT:C3595] synonym: "benign tumor of nasopharynx" EXACT [NCIT:C3595] synonym: "benign tumor of the nasopharynx" EXACT [NCIT:C3595] -synonym: "benign tumour of nasopharynx" EXACT OMO:0003005 [] +synonym: "benign tumour of nasopharynx" EXACT OMO:0003005 [icd11.foundation:1862070581] synonym: "benign tumour of the nasopharynx" EXACT OMO:0003005 [] synonym: "nasopharyngeal neoplasm, benign" EXACT [NCIT:C3595] synonym: "nasopharynx benign neoplasm" EXACT [MONDO:patterns/location] @@ -476102,9 +476194,9 @@ synonym: "benign oropharyngeal tumor" EXACT [NCIT:C4604] synonym: "benign oropharyngeal tumour" EXACT OMO:0003005 [] synonym: "benign tumor of oropharynx" EXACT [NCIT:C4604] synonym: "benign tumor of the oropharynx" EXACT [NCIT:C4604] -synonym: "benign tumour of oropharynx" EXACT OMO:0003005 [] +synonym: "benign tumour of oropharynx" EXACT OMO:0003005 [icd11.foundation:441557450] synonym: "benign tumour of the oropharynx" EXACT OMO:0003005 [] -synonym: "oropharyngeal neoplasm benign" EXACT [NCIT:C4604] +synonym: "oropharyngeal neoplasm benign" EXACT [icd11.foundation:441557450, NCIT:C4604] synonym: "oropharynx benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:441557450 {source="MONDO:equivalentTo"} xref: ICD9:210.6 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -476151,7 +476243,7 @@ synonym: "benign submandibular gland tumor" EXACT [NCIT:C4891] synonym: "benign submandibular gland tumour" EXACT OMO:0003005 [] synonym: "benign tumor of submandibular gland" EXACT [NCIT:C4891] synonym: "benign tumor of the submandibular gland" EXACT [NCIT:C4891] -synonym: "benign tumour of submandibular gland" EXACT OMO:0003005 [] +synonym: "benign tumour of submandibular gland" EXACT OMO:0003005 [icd11.foundation:564841249] synonym: "benign tumour of the submandibular gland" EXACT OMO:0003005 [] synonym: "submandibular gland benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:564841249 {source="MONDO:equivalentTo"} @@ -476174,7 +476266,7 @@ synonym: "benign middle Ear tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the middle Ear" EXACT [NCIT:C4602] synonym: "benign tumor of middle Ear" EXACT [NCIT:C4602] synonym: "benign tumor of the middle Ear" EXACT [NCIT:C4602] -synonym: "benign tumour of middle Ear" EXACT OMO:0003005 [] +synonym: "benign tumour of middle Ear" EXACT OMO:0003005 [icd11.foundation:1119231856] synonym: "benign tumour of the middle Ear" EXACT OMO:0003005 [] synonym: "middle ear benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:1119231856 {source="MONDO:equivalentTo"} @@ -476200,7 +476292,7 @@ synonym: "benign frontal sinus tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the frontal sinus" EXACT [NCIT:C4420] synonym: "benign tumor of frontal sinus" EXACT [NCIT:C4420] synonym: "benign tumor of the frontal sinus" EXACT [NCIT:C4420] -synonym: "benign tumour of frontal sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of frontal sinus" EXACT OMO:0003005 [icd11.foundation:399551439] synonym: "benign tumour of the frontal sinus" EXACT OMO:0003005 [] synonym: "frontal sinus benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:399551439 {source="MONDO:equivalentTo"} @@ -476220,28 +476312,28 @@ name: benign neoplasm of maxillary sinus def: "A benign neoplasm that involves the maxillary sinus." [MONDO:patterns/location] subset: inferred_rare subset: rare -synonym: "benign maxillary antrum neoplasm" EXACT [NCIT:C4414] -synonym: "benign maxillary antrum tumor" EXACT [NCIT:C4414] +synonym: "benign maxillary antrum neoplasm" EXACT [] +synonym: "benign maxillary antrum tumor" EXACT [] synonym: "benign maxillary antrum tumour" EXACT OMO:0003005 [] synonym: "benign maxillary sinus neoplasm" EXACT [NCIT:C4414] synonym: "benign maxillary sinus tumor" EXACT [NCIT:C4414] synonym: "benign maxillary sinus tumour" EXACT OMO:0003005 [] -synonym: "benign maxillofacial sinus neoplasm" EXACT [NCIT:C4414] -synonym: "benign maxillofacial sinus tumor" EXACT [NCIT:C4414] +synonym: "benign maxillofacial sinus neoplasm" EXACT [] +synonym: "benign maxillofacial sinus tumor" EXACT [] synonym: "benign maxillofacial sinus tumour" EXACT OMO:0003005 [] -synonym: "benign neoplasm of maxillary antrum" EXACT [NCIT:C4414] -synonym: "benign neoplasm of maxillofacial sinus" EXACT [NCIT:C4414] -synonym: "benign neoplasm of the maxillary antrum" EXACT [NCIT:C4414] +synonym: "benign neoplasm of maxillary antrum" EXACT [] +synonym: "benign neoplasm of maxillofacial sinus" EXACT [] +synonym: "benign neoplasm of the maxillary antrum" EXACT [] synonym: "benign neoplasm of the maxillary sinus" EXACT [NCIT:C4414] -synonym: "benign neoplasm of the maxillofacial sinus" EXACT [NCIT:C4414] -synonym: "benign tumor of maxillary antrum" EXACT [NCIT:C4414] +synonym: "benign neoplasm of the maxillofacial sinus" EXACT [] +synonym: "benign tumor of maxillary antrum" EXACT [] synonym: "benign tumor of maxillary sinus" EXACT [NCIT:C4414] -synonym: "benign tumor of maxillofacial sinus" EXACT [NCIT:C4414] -synonym: "benign tumor of the maxillary antrum" EXACT [NCIT:C4414] +synonym: "benign tumor of maxillofacial sinus" EXACT [] +synonym: "benign tumor of the maxillary antrum" EXACT [] synonym: "benign tumor of the maxillary sinus" EXACT [NCIT:C4414] -synonym: "benign tumor of the maxillofacial sinus" EXACT [NCIT:C4414] +synonym: "benign tumor of the maxillofacial sinus" EXACT [] synonym: "benign tumour of maxillary antrum" EXACT OMO:0003005 [] -synonym: "benign tumour of maxillary sinus" EXACT OMO:0003005 [] +synonym: "benign tumour of maxillary sinus" EXACT OMO:0003005 [icd11.foundation:1738455612] synonym: "benign tumour of maxillofacial sinus" EXACT OMO:0003005 [] synonym: "benign tumour of the maxillary antrum" EXACT OMO:0003005 [] synonym: "benign tumour of the maxillary sinus" EXACT OMO:0003005 [] @@ -476292,7 +476384,7 @@ synonym: "benign ciliary body tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the ciliary body" EXACT [NCIT:C4779] synonym: "benign tumor of ciliary body" EXACT [NCIT:C4779] synonym: "benign tumor of the ciliary body" EXACT [NCIT:C4779] -synonym: "benign tumour of ciliary body" EXACT OMO:0003005 [] +synonym: "benign tumour of ciliary body" EXACT OMO:0003005 [icd11.foundation:1138156221] synonym: "benign tumour of the ciliary body" EXACT OMO:0003005 [] synonym: "ciliary body benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:1138156221 {source="MONDO:equivalentTo"} @@ -476315,7 +476407,7 @@ synonym: "benign choroid tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the choroid" EXACT [NCIT:C3625] synonym: "benign tumor of choroid" EXACT [NCIT:C3625] synonym: "benign tumor of the choroid" EXACT [NCIT:C3625] -synonym: "benign tumour of choroid" EXACT OMO:0003005 [] +synonym: "benign tumour of choroid" EXACT OMO:0003005 [icd11.foundation:809005353] synonym: "benign tumour of the choroid" EXACT OMO:0003005 [] synonym: "optic choroid benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:809005353 {source="MONDO:equivalentTo"} @@ -476339,7 +476431,7 @@ synonym: "benign lacrimal gland tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the lacrimal gland" EXACT [NCIT:C3621] synonym: "benign tumor of lacrimal gland" EXACT [NCIT:C3621] synonym: "benign tumor of the lacrimal gland" EXACT [NCIT:C3621] -synonym: "benign tumour of lacrimal gland" EXACT OMO:0003005 [] +synonym: "benign tumour of lacrimal gland" EXACT OMO:0003005 [icd11.foundation:1163790602] synonym: "benign tumour of the lacrimal gland" EXACT OMO:0003005 [] synonym: "lacrimal gland benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:1163790602 {source="MONDO:equivalentTo"} @@ -476487,7 +476579,7 @@ id: MONDO:0021494 name: benign neoplasm of parotid gland def: "A benign neoplasm that involves the parotid gland." [MONDO:patterns/location] synonym: "benign neoplasm of parotid" EXACT [NCIT:C4770] -synonym: "benign neoplasm of the parotid" EXACT [NCIT:C4770] +synonym: "benign neoplasm of the parotid" EXACT [icd11.foundation:1688299444, NCIT:C4770] synonym: "benign neoplasm of the parotid gland" EXACT [NCIT:C4770] synonym: "benign parotid gland neoplasm" EXACT [NCIT:C4770] synonym: "benign parotid gland tumor" EXACT [NCIT:C4770] @@ -476500,7 +476592,7 @@ synonym: "benign tumor of parotid gland" EXACT [NCIT:C4770] synonym: "benign tumor of the parotid" EXACT [NCIT:C4770] synonym: "benign tumor of the parotid gland" EXACT [NCIT:C4770] synonym: "benign tumour of parotid" EXACT OMO:0003005 [] -synonym: "benign tumour of parotid gland" EXACT OMO:0003005 [] +synonym: "benign tumour of parotid gland" EXACT OMO:0003005 [icd11.foundation:1688299444] synonym: "benign tumour of the parotid" EXACT OMO:0003005 [] synonym: "benign tumour of the parotid gland" EXACT OMO:0003005 [] synonym: "parotid gland benign neoplasm" EXACT [MONDO:patterns/location] @@ -476547,7 +476639,7 @@ synonym: "benign Lip tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the Lip" EXACT [NCIT:C3591] synonym: "benign tumor of Lip" EXACT [NCIT:C3591] synonym: "benign tumor of the Lip" EXACT [NCIT:C3591] -synonym: "benign tumour of Lip" EXACT OMO:0003005 [] +synonym: "benign tumour of Lip" EXACT OMO:0003005 [icd11.foundation:2019143477] synonym: "benign tumour of the Lip" EXACT OMO:0003005 [] synonym: "lip benign neoplasm" EXACT [MONDO:patterns/location] synonym: "lip neoplasm, benign" EXACT [NCIT:C3591] @@ -476603,7 +476695,7 @@ synonym: "benign neoplasm of the placenta" EXACT [NCIT:C8545] synonym: "benign placenta neoplasm" EXACT [NCIT:C8545] synonym: "benign placenta tumor" EXACT [NCIT:C8545] synonym: "benign placenta tumour" EXACT OMO:0003005 [] -synonym: "benign placental neoplasm" EXACT [NCIT:C8545] +synonym: "benign placental neoplasm" EXACT [icd11.foundation:194589255, NCIT:C8545] synonym: "benign placental tumor" EXACT [NCIT:C8545] synonym: "benign placental tumour" EXACT OMO:0003005 [] synonym: "benign tumor of placenta" EXACT [NCIT:C8545] @@ -476627,7 +476719,7 @@ intersection_of: disease_has_location UBERON:0001987 ! placenta id: MONDO:0021499 name: benign neoplasm of cerebellum def: "A benign neoplasm that involves the cerebellum." [MONDO:patterns/location] -synonym: "benign cerebellar neoplasm" EXACT [NCIT:C4955] +synonym: "benign cerebellar neoplasm" EXACT [icd11.foundation:664460646, NCIT:C4955] synonym: "benign cerebellar neoplasms" EXACT [NCIT:C4955] synonym: "benign cerebellar tumor" EXACT [NCIT:C4955] synonym: "benign cerebellar tumour" EXACT OMO:0003005 [] @@ -476675,7 +476767,7 @@ def: "A benign neoplasm that involves the small intestine." [MONDO:patterns/loca subset: otar {source="MONDO:OTAR"} synonym: "benign neoplasm of the small intestine" EXACT [NCIT:C3600] synonym: "benign small intestinal neoplasm" EXACT [NCIT:C3600] -synonym: "benign small intestinal neoplasm NOS" RELATED EXCLUDE [NCIT:C3600] +synonym: "benign small intestinal neoplasm NOS" RELATED EXCLUDE [] synonym: "benign small intestinal tumor" EXACT [NCIT:C3600] synonym: "benign small intestinal tumour" EXACT OMO:0003005 [] synonym: "benign small intestine neoplasm" EXACT [NCIT:C3600] @@ -476706,10 +476798,10 @@ synonym: "benign gallbladder tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the gallbladder" EXACT [NCIT:C4440] synonym: "benign tumor of gallbladder" EXACT [NCIT:C4440] synonym: "benign tumor of the gallbladder" EXACT [NCIT:C4440] -synonym: "benign tumour of gallbladder" EXACT OMO:0003005 [] +synonym: "benign tumour of gallbladder" EXACT OMO:0003005 [icd11.foundation:1439916526] synonym: "benign tumour of the gallbladder" EXACT OMO:0003005 [] synonym: "gall bladder benign neoplasm" EXACT [MONDO:patterns/location] -synonym: "gallbladder benign neoplasm" EXACT [NCIT:C4440] +synonym: "gallbladder benign neoplasm" EXACT [DOID:0080640, NCIT:C4440] synonym: "gallbladder benign tumor" EXACT [NCIT:C4440] synonym: "gallbladder benign tumour" EXACT OMO:0003005 [] xref: DOID:0080640 {source="MONDO:equivalentTo"} @@ -476727,13 +476819,13 @@ intersection_of: disease_has_location UBERON:0002110 ! gallbladder id: MONDO:0021505 name: benign neoplasm of endocardium def: "A benign neoplasm that involves the endocardium." [MONDO:patterns/location] -synonym: "benign endocardial neoplasm" EXACT [NCIT:C4608] +synonym: "benign endocardial neoplasm" EXACT [icd11.foundation:1776419379, NCIT:C4608] synonym: "benign endocardial tumor" EXACT [NCIT:C4608] synonym: "benign endocardial tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the endocardium" EXACT [NCIT:C4608] synonym: "benign tumor of endocardium" EXACT [NCIT:C4608] synonym: "benign tumor of the endocardium" EXACT [NCIT:C4608] -synonym: "benign tumour of endocardium" EXACT OMO:0003005 [] +synonym: "benign tumour of endocardium" EXACT OMO:0003005 [icd11.foundation:1776419379] synonym: "benign tumour of the endocardium" EXACT OMO:0003005 [] synonym: "endocardium benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:1776419379 {source="MONDO:equivalentTo"} @@ -476756,7 +476848,7 @@ synonym: "benign spinal cord tumor" EXACT [NCIT:C3627] synonym: "benign spinal cord tumour" EXACT OMO:0003005 [] synonym: "benign tumor of spinal cord" EXACT [NCIT:C3627] synonym: "benign tumor of the spinal cord" EXACT [NCIT:C3627] -synonym: "benign tumour of spinal cord" EXACT OMO:0003005 [] +synonym: "benign tumour of spinal cord" EXACT OMO:0003005 [icd11.foundation:1588169218] synonym: "benign tumour of the spinal cord" EXACT OMO:0003005 [] synonym: "spinal cord benign neoplasm" EXACT [MONDO:patterns/location] synonym: "spinal cord neoplasm, benign" EXACT [NCIT:C3627] @@ -476816,7 +476908,7 @@ intersection_of: disease_has_location UBERON:0002298 ! brainstem id: MONDO:0021508 name: benign neoplasm of epicardium def: "A benign neoplasm that involves the epicardium." [MONDO:patterns/location] -synonym: "benign epicardial neoplasm" EXACT [NCIT:C8535] +synonym: "benign epicardial neoplasm" EXACT [icd11.foundation:1295571347, NCIT:C8535] synonym: "benign epicardial tumor" EXACT [NCIT:C8535] synonym: "benign epicardial tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the epicardium" EXACT [NCIT:C8535] @@ -476840,13 +476932,13 @@ intersection_of: disease_has_location UBERON:0002348 ! epicardium id: MONDO:0021509 name: benign neoplasm of myocardium def: "A benign neoplasm that involves the myocardium." [MONDO:patterns/location] -synonym: "benign myocardial neoplasm" EXACT [NCIT:C4607] +synonym: "benign myocardial neoplasm" EXACT [icd11.foundation:2097885721, NCIT:C4607] synonym: "benign myocardial tumor" EXACT [NCIT:C4607] synonym: "benign myocardial tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the myocardium" EXACT [NCIT:C4607] synonym: "benign tumor of myocardium" EXACT [NCIT:C4607] synonym: "benign tumor of the myocardium" EXACT [NCIT:C4607] -synonym: "benign tumour of myocardium" EXACT OMO:0003005 [] +synonym: "benign tumour of myocardium" EXACT OMO:0003005 [icd11.foundation:2097885721] synonym: "benign tumour of the myocardium" EXACT OMO:0003005 [] synonym: "myocardium benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:2097885721 {source="MONDO:equivalentTo"} @@ -476871,7 +476963,7 @@ synonym: "benign prostate tumour" EXACT OMO:0003005 [] synonym: "benign prostatic neoplasm" EXACT [NCIT:C3613] synonym: "benign tumor of prostate" EXACT [NCIT:C3613] synonym: "benign tumor of the prostate" EXACT [NCIT:C3613] -synonym: "benign tumour of prostate" EXACT OMO:0003005 [] +synonym: "benign tumour of prostate" EXACT OMO:0003005 [icd11.foundation:1144614287] synonym: "benign tumour of the prostate" EXACT OMO:0003005 [] synonym: "prostate gland benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D29.1 {source="MONDO:equivalentTo"} @@ -476903,7 +476995,7 @@ synonym: "benign adrenal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the adrenal gland" EXACT [NCIT:C3629] synonym: "benign tumor of adrenal gland" EXACT [NCIT:C3629] synonym: "benign tumor of the adrenal gland" EXACT [NCIT:C3629] -synonym: "benign tumour of adrenal gland" EXACT OMO:0003005 [] +synonym: "benign tumour of adrenal gland" EXACT OMO:0003005 [icd11.foundation:2121003176] synonym: "benign tumour of the adrenal gland" EXACT OMO:0003005 [] xref: icd11.foundation:2121003176 {source="MONDO:equivalentTo"} xref: ICD9:227.0 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -476923,7 +477015,7 @@ def: "A benign neoplasm that involves the thymus." [MONDO:patterns/location] subset: inferred_rare subset: rare synonym: "benign neoplasm of the Thymus" EXACT [NCIT:C4458] -synonym: "benign thymic neoplasm" EXACT [NCIT:C4458] +synonym: "benign thymic neoplasm" EXACT [icd11.foundation:1583331018, NCIT:C4458] synonym: "benign thymic tumor" EXACT [NCIT:C4458] synonym: "benign thymic tumour" EXACT OMO:0003005 [] synonym: "benign Thymus neoplasm" EXACT [NCIT:C4458] @@ -476932,7 +477024,7 @@ synonym: "benign Thymus tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the Thymus" EXACT [NCIT:C4458] synonym: "benign tumor of Thymus" EXACT [NCIT:C4458] synonym: "benign tumour of the Thymus" EXACT OMO:0003005 [] -synonym: "benign tumour of Thymus" EXACT OMO:0003005 [] +synonym: "benign tumour of Thymus" EXACT OMO:0003005 [icd11.foundation:1583331018] synonym: "thymus benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D15.0 {source="MONDO:equivalentTo"} xref: icd11.foundation:1583331018 {source="MONDO:equivalentTo"} @@ -476959,7 +477051,7 @@ synonym: "benign tonsillar tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the tonsil" EXACT [NCIT:C3594] synonym: "benign tumor of tonsil" EXACT [NCIT:C3594] synonym: "benign tumour of the tonsil" EXACT OMO:0003005 [] -synonym: "benign tumour of tonsil" EXACT OMO:0003005 [] +synonym: "benign tumour of tonsil" EXACT OMO:0003005 [icd11.foundation:2132438112] synonym: "tonsil benign neoplasm" EXACT [MONDO:patterns/location] synonym: "tonsillar neoplasm, benign" EXACT [NCIT:C3594] xref: ICD10CM:D10.4 {source="MONDO:equivalentTo"} @@ -476980,7 +477072,7 @@ id: MONDO:0021514 name: benign neoplasm of pericardium def: "A benign neoplasm that involves the pericardium." [MONDO:patterns/location] synonym: "benign neoplasm of the pericardium" EXACT [NCIT:C8536] -synonym: "benign pericardial neoplasm" EXACT [NCIT:C8536] +synonym: "benign pericardial neoplasm" EXACT [icd11.foundation:1296244385, NCIT:C8536] synonym: "benign pericardial tumor" EXACT [NCIT:C8536] synonym: "benign pericardial tumour" EXACT OMO:0003005 [] synonym: "benign tumor of pericardium" EXACT [NCIT:C8536] @@ -477042,7 +477134,7 @@ synonym: "benign glottis tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the glottis" EXACT [NCIT:C4605] synonym: "benign tumor of glottis" EXACT [NCIT:C4605] synonym: "benign tumor of the glottis" EXACT [NCIT:C4605] -synonym: "benign tumour of glottis" EXACT OMO:0003005 [] +synonym: "benign tumour of glottis" EXACT OMO:0003005 [icd11.foundation:1704448187] synonym: "benign tumour of the glottis" EXACT OMO:0003005 [] synonym: "glottis benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:1704448187 {source="MONDO:equivalentTo"} @@ -477063,13 +477155,13 @@ synonym: "benign neoplasm of the trachea" EXACT [NCIT:C3602] synonym: "benign trachea neoplasm" EXACT [NCIT:C3602] synonym: "benign trachea tumor" EXACT [NCIT:C3602] synonym: "benign trachea tumour" EXACT OMO:0003005 [] -synonym: "benign tracheal neoplasm" EXACT [NCIT:C3602] +synonym: "benign tracheal neoplasm" EXACT [icd11.foundation:1396826912, NCIT:C3602] synonym: "benign tracheal tumor" EXACT [NCIT:C3602] synonym: "benign tracheal tumour" EXACT OMO:0003005 [] synonym: "benign tumor of the trachea" EXACT [NCIT:C3602] synonym: "benign tumor of trachea" EXACT [NCIT:C3602] synonym: "benign tumour of the trachea" EXACT OMO:0003005 [] -synonym: "benign tumour of trachea" EXACT OMO:0003005 [] +synonym: "benign tumour of trachea" EXACT OMO:0003005 [icd11.foundation:1396826912] synonym: "trachea benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D14.2 {source="MONDO:equivalentTo"} xref: icd11.foundation:1396826912 {source="MONDO:equivalentTo"} @@ -477120,7 +477212,7 @@ synonym: "benign floor of the mouth tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the floor of the mouth" EXACT [NCIT:C3593] synonym: "benign tumor of floor of mouth" EXACT [NCIT:C3593] synonym: "benign tumor of the floor of the mouth" EXACT [NCIT:C3593] -synonym: "benign tumour of floor of mouth" EXACT OMO:0003005 [] +synonym: "benign tumour of floor of mouth" EXACT OMO:0003005 [icd11.foundation:1774137950] synonym: "benign tumour of the floor of the mouth" EXACT OMO:0003005 [] synonym: "mouth floor benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D10.2 {source="MONDO:equivalentTo"} @@ -477138,14 +477230,14 @@ intersection_of: disease_has_location UBERON:0003679 ! mouth floor id: MONDO:0021521 name: benign neoplasm of mediastinum def: "A benign neoplasm that involves the mediastinum." [MONDO:patterns/location] -synonym: "benign mediastinal neoplasm" EXACT [NCIT:C3604] -synonym: "benign mediastinal neoplasms NOS" RELATED EXCLUDE [NCIT:C3604] +synonym: "benign mediastinal neoplasm" EXACT [icd11.foundation:1337535393, NCIT:C3604] +synonym: "benign mediastinal neoplasms NOS" RELATED EXCLUDE [] synonym: "benign mediastinal tumor" EXACT [NCIT:C3604] synonym: "benign mediastinal tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the mediastinum" EXACT [NCIT:C3604] synonym: "benign tumor of mediastinum" EXACT [NCIT:C3604] synonym: "benign tumor of the mediastinum" EXACT [NCIT:C3604] -synonym: "benign tumour of mediastinum" EXACT OMO:0003005 [] +synonym: "benign tumour of mediastinum" EXACT OMO:0003005 [icd11.foundation:1337535393] synonym: "benign tumour of the mediastinum" EXACT OMO:0003005 [] synonym: "mediastinum benign neoplasm" EXACT [MONDO:patterns/location] xref: ICD10CM:D15.2 {source="MONDO:equivalentTo"} @@ -477216,7 +477308,7 @@ synonym: "benign buccal mucosa tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of the buccal mucosa" EXACT [NCIT:C4406] synonym: "benign tumor of buccal mucosa" EXACT [NCIT:C4406] synonym: "benign tumor of the buccal mucosa" EXACT [NCIT:C4406] -synonym: "benign tumour of buccal mucosa" EXACT OMO:0003005 [] +synonym: "benign tumour of buccal mucosa" EXACT OMO:0003005 [icd11.foundation:1053814432] synonym: "benign tumour of the buccal mucosa" EXACT OMO:0003005 [] synonym: "buccal mucosa benign neoplasm" EXACT [MONDO:patterns/location] xref: icd11.foundation:1053814432 {source="MONDO:equivalentTo"} @@ -477418,8 +477510,8 @@ def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) th subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoid tumor of intestine" EXACT [NCIT:C4637] -synonym: "carcinoid tumor of the intestine" EXACT [NCIT:C4637] +synonym: "carcinoid tumor of intestine" EXACT [] +synonym: "carcinoid tumor of the intestine" EXACT [] synonym: "carcinoid tumour of intestine" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the intestine" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of intestine" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] @@ -477427,7 +477519,7 @@ synonym: "intestinal carcinoid tumor" EXACT [NCIT:C4637] synonym: "intestinal carcinoid tumour" EXACT OMO:0003005 [] synonym: "intestinal NET G1" EXACT [NCIT:C4637] synonym: "intestinal neuroendocrine tumor G1" EXACT [NCIT:C4637] -synonym: "intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1, NCIT:C4637] +synonym: "intestine carcinoid tumor" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] synonym: "intestine carcinoid tumor (disease)" EXACT [MONDO:patterns/location] synonym: "intestine carcinoid tumour" EXACT OMO:0003005 [] synonym: "intestine carcinoid tumour (disease)" EXACT OMO:0003005 [] @@ -477454,15 +477546,15 @@ name: rectal neuroendocrine tumor G1 def: "A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent." [NCIT:C5547] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "carcinoid of rectum" EXACT [NCIT:C5547] -synonym: "carcinoid of the rectum" EXACT [NCIT:C5547] -synonym: "carcinoid tumor of rectum" EXACT [NCIT:C5547] -synonym: "carcinoid tumor of the rectum" EXACT [NCIT:C5547] +synonym: "carcinoid of rectum" EXACT [] +synonym: "carcinoid of the rectum" EXACT [] +synonym: "carcinoid tumor of rectum" EXACT [] +synonym: "carcinoid tumor of the rectum" EXACT [] synonym: "carcinoid tumour of rectum" EXACT OMO:0003005 [] synonym: "carcinoid tumour of the rectum" EXACT OMO:0003005 [] synonym: "grade 1 neuroendocrine neoplasm of rectum" EXACT [MONDO:patterns/neuroendocrine_neoplasm_grade1] -synonym: "rectal carcinoid" EXACT [NCIT:C5547] -synonym: "rectal carcinoid tumor" EXACT [NCIT:C5547] +synonym: "rectal carcinoid" EXACT [] +synonym: "rectal carcinoid tumor" EXACT [] synonym: "rectal carcinoid tumour" EXACT OMO:0003005 [] synonym: "rectal NET G1" EXACT [NCIT:C5547] synonym: "rectal neuroendocrine tumor G1" EXACT [NCIT:C5547] @@ -477592,9 +477684,9 @@ intersection_of: disease_has_location UBERON:0002048 ! lung id: MONDO:0021541 name: hemangioma of retina def: "A hemangioma that involves the retina." [MONDO:patterns/location] -synonym: "angioma of retina" EXACT [NCIT:C3634] -synonym: "angioma of the retina" EXACT [NCIT:C3634] -synonym: "hemangioma of the retina" EXACT [NCIT:C3634] +synonym: "angioma of retina" EXACT [] +synonym: "angioma of the retina" EXACT [] +synonym: "hemangioma of the retina" EXACT [] synonym: "retina angioma" EXACT [NCIT:C3634] synonym: "retina hemangioma" EXACT [MONDO:patterns/location, NCIT:C3634] synonym: "retinal angioma" EXACT [NCIT:C3634] @@ -477721,7 +477813,7 @@ subset: gard_rare {source="GARD:18258", source="MONDO:GARD"} subset: rare synonym: "AI3B" EXACT ABBREVIATION [OMIM:617607] synonym: "amelogenesis imperfecta, type 3B" EXACT [OMIM:617607] -synonym: "amelogenesis imperfecta, type IIIB" EXACT [OMIM:617607] +synonym: "amelogenesis imperfecta, type IIIB" EXACT [] xref: DOID:0080243 {source="MONDO:equivalentTo"} xref: GARD:18258 {source="MONDO:GARD"} xref: MEDGEN:1621302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -477758,7 +477850,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "Myelitis, Transverse" RELATED [MESH:D009188] synonym: "Transverse Myelitis" RELATED [MESH:D009188] synonym: "Transverse myelitis" RELATED [UMLS:C0026976] -synonym: "transverse myelitis" EXACT [] +synonym: "transverse myelitis" EXACT [DOID:0080743, icd11.foundation:1328350091] synonym: "Transverse Myelopathy Syndrome" RELATED [MESH:D009188] synonym: "Transverse myelopathy syndrome" RELATED [UMLS:C0026976] synonym: "transverse myelopathy syndrome" EXACT [] @@ -477783,7 +477875,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Non-Autoimmune Hemolytic Anaemia" RELATED OMO:0003005 [] synonym: "Non-autoimmune hemolytic anaemia" RELATED OMO:0003005 [] -synonym: "Non-Autoimmune Hemolytic Anemia" RELATED [NCIT:C34853] +synonym: "Non-Autoimmune Hemolytic Anemia" RELATED [] synonym: "Non-autoimmune hemolytic anemia" RELATED [UMLS:C0028283] synonym: "non-autoimmune hemolytic anemia" EXACT [NCIT:C34853] xref: EFO:0005558 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -477799,7 +477891,7 @@ is_a: MONDO:0003664 {source="NCIT:C34853"} ! hemolytic anemia id: MONDO:0021562 name: omphalitis def: "Inflammation of the umbilical cord stump in newborns." [NCIT:C116008] -synonym: "Omphalitis" RELATED [GTR:AN0533760, NCIT:C116008] +synonym: "Omphalitis" RELATED [GTR:AN0533760] synonym: "omphalitis" EXACT [NCIT:C116008] xref: GTR:AN0533760 {source="UMLS:C0028992"} xref: ICD10CM:P35-P39 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -477840,23 +477932,23 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant limb-girdle muscular dystrophy type 1B" EXACT [OMIM:159001] +synonym: "autosomal dominant limb-girdle muscular dystrophy type 1B" EXACT [DOID:0070247] synonym: "benign scapuloperoneal muscular dystrophy with cardiomyopathy" RELATED [PMID:12376891] -synonym: "EDMD2" EXACT ABBREVIATION [OMIM:181350] -synonym: "EMD2" RELATED ABBREVIATION [OMIM:181350] -synonym: "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:181350] -synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" RELATED [OMIM:181350] -synonym: "Hauptmann-Thannhauser muscular dystrophy" EXACT [OMIM:181350] -synonym: "LGMD1B" EXACT ABBREVIATION [DOID:0110301, GARD:0010230, MONDO:Lexical, OMIM:159001, Orphanet:264] -synonym: "limb-girdle muscular dystrophy due to lamin A/C deficiency" EXACT [DOID:0110301, Orphanet:264] +synonym: "EDMD2" EXACT ABBREVIATION [DOID:0070247, NCIT:C126745, OMIM:181350] +synonym: "EMD2" RELATED ABBREVIATION [] +synonym: "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" EXACT CLINGEN_LABEL [DOID:0070247, MONDO:Lexical, NCIT:C126745, OMIM:181350] +synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" RELATED [] +synonym: "Hauptmann-Thannhauser muscular dystrophy" EXACT [DOID:0070247, OMIM:181350] +synonym: "LGMD1B" EXACT ABBREVIATION [GARD:0010230, MONDO:Lexical] +synonym: "limb-girdle muscular dystrophy due to lamin A/C deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy type 1B" RELATED [GARD:0010230] synonym: "LMNA autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant" RELATED [OMIM:181350] -synonym: "muscular dystrophy, limb-girdle type 1B" EXACT [DOID:0110301] -synonym: "muscular dystrophy, limb-girdle, type 1B" RELATED [MONDO:Lexical, OMIM:159001] -synonym: "muscular dystrophy, proximal, type 1B" RELATED [GARD:0010230, OMIM:159001] -synonym: "proximal muscular dystrophy type 1B" EXACT [DOID:0110301] -synonym: "scapuloilioperoneal atrophy with cardiopathy" RELATED [OMIM:181350] +synonym: "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant" RELATED [] +synonym: "muscular dystrophy, limb-girdle type 1B" EXACT [] +synonym: "muscular dystrophy, limb-girdle, type 1B" RELATED [MONDO:Lexical] +synonym: "muscular dystrophy, proximal, type 1B" RELATED [GARD:0010230] +synonym: "proximal muscular dystrophy type 1B" EXACT [] +synonym: "scapuloilioperoneal atrophy with cardiopathy" RELATED [] xref: DOID:0070247 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: DOID:0110301 {source="MONDO:equivalentObsolete"} xref: GARD:10230 {source="MONDO:GARD"} @@ -477898,13 +477990,13 @@ replaced_by: MONDO:0021569 id: MONDO:0021571 name: multiple sclerosis, susceptibility to 1 subset: predisposition -synonym: "disseminated sclerosis" RELATED [OMIM:126200] -synonym: "MS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:126200] +synonym: "disseminated sclerosis" RELATED [] +synonym: "MS" RELATED ABBREVIATION [MONDO:Lexical] synonym: "MS1" EXACT ABBREVIATION [] -synonym: "multiple sclerosis, disease progression, modifier of" EXACT [OMIM:126200, OMIM:genemap2] -synonym: "multiple sclerosis, susceptibility to" RELATED [MONDO:Lexical, OMIM:126200] -synonym: "multiple sclerosis, susceptibility to, 1" EXACT [OMIM:126200] -synonym: "susceptibility to multiple sclerosis" RELATED [OMIM:126200] +synonym: "multiple sclerosis, disease progression, modifier of" EXACT [] +synonym: "multiple sclerosis, susceptibility to" RELATED [MONDO:Lexical] +synonym: "multiple sclerosis, susceptibility to, 1" EXACT [] +synonym: "susceptibility to multiple sclerosis" RELATED [] xref: MEDGEN:854774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:126200 {source="MONDO:equivalentTo"} xref: UMLS:C3888106 {source="MEDGEN:854774", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -477920,7 +478012,7 @@ subset: gard_rare {source="GARD:18496", source="MONDO:GARD"} subset: rare synonym: "inherited oocyte maturation defect caused by mutation in TUBB8" EXACT [MONDO:design_pattern] synonym: "oocyte maturation defect 2" EXACT [MONDO:Lexical, OMIM:616780] -synonym: "OOMD2" EXACT ABBREVIATION [OMIM:616780] +synonym: "OOMD2" EXACT ABBREVIATION [] synonym: "TUBB8 inherited oocyte maturation defect" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18496 {source="MONDO:GARD"} xref: MEDGEN:903836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -477936,7 +478028,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0021574 name: oocyte maturation defect 3 synonym: "oocyte maturation defect 3" EXACT [MONDO:Lexical, OMIM:617712] -synonym: "OOMD3" EXACT ABBREVIATION [OMIM:617712] +synonym: "OOMD3" EXACT ABBREVIATION [] xref: MEDGEN:1617317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617712 {source="MONDO:equivalentTo"} xref: Orphanet:404466 {source="OMIM:617712", source="MONDO:directSiblingOf"} @@ -477950,7 +478042,7 @@ name: oocyte maturation defect 4 subset: gard_rare {source="GARD:18497", source="MONDO:GARD"} subset: rare synonym: "oocyte maturation defect 4" EXACT [MONDO:Lexical, OMIM:617743] -synonym: "OOMD4" EXACT ABBREVIATION [OMIM:617743] +synonym: "OOMD4" EXACT ABBREVIATION [] xref: GARD:18497 {source="MONDO:GARD"} xref: MEDGEN:1616340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617743 {source="MONDO:equivalentTo"} @@ -478065,7 +478157,7 @@ synonym: "connective tissue neoplasms" RELATED [MESH:D009372] synonym: "connective tissue tumor" EXACT [MONDO:patterns/neoplasm] synonym: "connective tissue tumour" EXACT OMO:0003005 [] synonym: "neoplasm of connective tissue" EXACT [MONDO:patterns/neoplasm] -synonym: "neoplasm of connective tissues" EXACT [DOID:201] +synonym: "neoplasm of connective tissues" EXACT [] synonym: "neoplasm, connective tissue" RELATED [MESH:D009372] synonym: "tumor of connective tissue" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:patterns/neoplasm] synonym: "tumour of connective tissue" EXACT OMO:0003005 [] @@ -478268,8 +478360,8 @@ intersection_of: disease_has_location UBERON:0000955 ! brain id: MONDO:0021632 name: primary brain neoplasm subset: otar {source="MONDO:OTAR"} -synonym: "primary brain neoplasm" EXACT [NCIT:C4952] -synonym: "primary brain tumor" EXACT [NCIT:C4952] +synonym: "primary brain neoplasm" EXACT [NCIT:C170814] +synonym: "primary brain tumor" EXACT [] synonym: "primary brain tumour" EXACT OMO:0003005 [] xref: MEDGEN:152924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C170814 {source="MONDO:equivalentTo"} @@ -478350,10 +478442,10 @@ synonym: "astrocytic neoplasm" EXACT [NCIT:C6958] synonym: "astrocytic tumor" EXACT [DOID:3069, NCIT:C6958, Orphanet:94] synonym: "astrocytoma" NARROW AMBIGUOUS [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23] synonym: "astrocytoma of brain" EXACT [DOID:3069] -synonym: "astrocytoma of cerebrum" NARROW [DOID:3069] -synonym: "astrocytoma, no ICD-O subtype" EXACT [DOID:3069] +synonym: "astrocytoma of cerebrum" NARROW [] +synonym: "astrocytoma, no ICD-O subtype" EXACT [] synonym: "astroglioma" EXACT [DOID:3069, NCIT:C6958] -synonym: "cerebral astrocytoma" RELATED EXCLUDE [DOID:3069] +synonym: "cerebral astrocytoma" RELATED EXCLUDE [] xref: DOID:3069 {source="MONDO:equivalentTo"} xref: GARD:12928 {source="MONDO:GARD"} xref: MedDRA:10003571 {source="Orphanet:94/e", source="Orphanet:94"} @@ -478373,7 +478465,7 @@ def: "A grade I or grade II glioma arising from the central nervous system. This subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "low grade glioma" EXACT [NCIT:C132067] +synonym: "low grade glioma" EXACT [DOID:0080829, NCIT:C132067] synonym: "low-grade glioma" EXACT [NCIT:C132067] xref: DOID:0080829 {source="MONDO:equivalentTo"} xref: MEDGEN:744283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -478492,7 +478584,7 @@ relationship: disease_has_basis_in_dysfunction_of UBERON:0005617 ! mesenteric ve [Term] id: MONDO:0021644 name: esophageal varices without bleeding -synonym: "esophageal varices without bleeding" EXACT [] +synonym: "esophageal varices without bleeding" EXACT [ICD10CM:I85.00] xref: ICD10CM:I85.00 {source="MONDO:equivalentTo"} xref: ICD9:456.1 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:540382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -478547,7 +478639,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "polysyndactyly" EXACT [SCTID:84598000, UMLS:C0265553] synonym: "SPD" RELATED ABBREVIATION [GARD:0005087] -synonym: "syndactyly type 2" EXACT [MONDO:0019683] +synonym: "syndactyly type 2" EXACT [MONDO:0019683, Orphanet:93403] synonym: "synpolydactyly" EXACT [NCIT:C75003, Orphanet:93403] xref: GARD:5087 {source="MONDO:GARD"} xref: ICD10CM:Q70.0 {source="Orphanet:93403", source="Orphanet:93403/nd", source="Orphanet:93403/attributed"} @@ -478649,7 +478741,7 @@ synonym: "sex cord stromal tumour" RELATED OMO:0003005 [] synonym: "Sex cord-stromal neoplasm of ovary" EXACT [NCIT:C4862] synonym: "Sex cord-stromal neoplasm of the ovary" EXACT [NCIT:C4862] synonym: "Sex cord-stromal tumor of ovary" EXACT [NCIT:C4862] -synonym: "sex cord-stromal tumor of ovary" EXACT [] +synonym: "sex cord-stromal tumor of ovary" EXACT [NCIT:C4862] synonym: "Sex cord-stromal tumor of the ovary" EXACT [NCIT:C4862] synonym: "Sex cord-stromal tumour of ovary" EXACT OMO:0003005 [] synonym: "sex cord-stromal tumour of ovary" EXACT OMO:0003005 [] @@ -478678,19 +478770,19 @@ is_a: MONDO:0005385 {source="NCIT:C45481/inferred"} ! vascular disorder id: MONDO:0021659 name: combined carcinoid and adenocarcinoma def: "A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells." [NCIT:C4139] -synonym: "adenocarcinoid neoplasm" EXACT [NCIT:C4139] -synonym: "adenocarcinoid tumor" EXACT [NCIT:C4139] +synonym: "adenocarcinoid neoplasm" EXACT [] +synonym: "adenocarcinoid tumor" EXACT [] synonym: "adenocarcinoid tumour" EXACT OMO:0003005 [] synonym: "combined carcinoid and adenocarcinoma" EXACT [NCIT:C4139] synonym: "combined carcinoid neoplasm and adenocarcinoma" EXACT [NCIT:C4139] synonym: "combined carcinoid tumor and adenocarcinoma" EXACT [NCIT:C4139] synonym: "combined carcinoid tumour and adenocarcinoma" EXACT OMO:0003005 [] -synonym: "composite carcinoid" EXACT [NCIT:C4139] +synonym: "composite carcinoid" EXACT [] synonym: "composite carcinoid neoplasm" EXACT [NCIT:C4139] -synonym: "composite carcinoid tumor" EXACT [NCIT:C4139] +synonym: "composite carcinoid tumor" EXACT [] synonym: "composite carcinoid tumour" EXACT OMO:0003005 [] -synonym: "mixed carcinoid neoplasm" EXACT [NCIT:C4139] -synonym: "mixed carcinoid tumor" EXACT [NCIT:C4139] +synonym: "mixed carcinoid neoplasm" EXACT [] +synonym: "mixed carcinoid tumor" EXACT [] synonym: "mixed carcinoid tumour" EXACT OMO:0003005 [] xref: ICDO:8244/3 {source="NCIT:C4139"} xref: ICDO:8245/3 {source="NCIT:C4139"} @@ -478709,7 +478801,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:397587"} subset: orphanet_rare {source="Orphanet:397587"} subset: rare -synonym: "deep dermatophytosis" EXACT [MONDO:0018335] +synonym: "deep dermatophytosis" EXACT [MONDO:0018335, Orphanet:397587] synonym: "deep seated dermatophytosis" EXACT [NCIT:C35073] synonym: "disseminated granulomatous dermatophytosis" EXACT [Orphanet:397587] xref: GARD:21631 {source="MONDO:GARD"} @@ -478731,7 +478823,7 @@ synonym: "arteriosclerosis disorder of coronary artery" EXACT [MONDO:design_patt synonym: "atherosclerosis of coronary artery" BROAD [] synonym: "coronary artery arteriosclerosis (disease)" EXACT [MONDO:patterns/location] synonym: "coronary artery arteriosclerosis disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] -synonym: "coronary atherosclerosis" EXACT [NCIT:C35505] +synonym: "coronary atherosclerosis" EXACT [icd11.foundation:1280712786, NCIT:C35505] xref: icd11.foundation:1280712786 {source="MONDO:equivalentTo"} xref: ICD9:414.00 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:3623 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -478810,7 +478902,7 @@ name: ear infection def: "A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting." [NCIT:C27193] subset: otar {source="MONDO:OTAR"} synonym: "Ear infection" EXACT [NCIT:C27193] -synonym: "otitis" EXACT [NCIT:C27193] +synonym: "otitis" EXACT [] xref: MEDGEN:147064 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D010031 {source="MONDO:equivalentTo"} xref: NCIT:C27193 {source="MONDO:equivalentTo"} @@ -478986,14 +479078,14 @@ id: MONDO:0021681 name: sexually transmitted disease def: "A Disease due to or propagated by sexual contact." [https://orcid.org/0000-0002-6601-2165, MESH:D012749] subset: otar {source="MONDO:OTAR"} -synonym: "disease (VD), venereal" EXACT [NCIT:C3365] +synonym: "disease (VD), venereal" EXACT [] synonym: "disease, sexually Transmitted" RELATED [MESH:D012749] synonym: "disease, venereal" RELATED [MESH:D012749] synonym: "diseases, sexually Transmitted" RELATED [MESH:D012749] synonym: "diseases, venereal" RELATED [MESH:D012749] synonym: "infection, sexually Transmitted" RELATED [MESH:D012749] synonym: "infections, sexually Transmitted" RELATED [MESH:D012749] -synonym: "sexually transmitted disease" EXACT [MESH:D012749] +synonym: "sexually transmitted disease" EXACT [MESH:D012749, NCIT:C3365] synonym: "sexually Transmitted disorder" EXACT [NCIT:C3365] synonym: "sexually Transmitted infection" RELATED [MESH:D012749] synonym: "sexually Transmitted infections" RELATED [MESH:D012749] @@ -479004,9 +479096,9 @@ synonym: "STIs" RELATED [MESH:D012749] synonym: "Transmitted infection, sexually" RELATED [MESH:D012749] synonym: "Transmitted infections, sexually" RELATED [MESH:D012749] synonym: "VD" EXACT ABBREVIATION [NCIT:C3365] -synonym: "VD, venereal disease" EXACT [NCIT:C3365] +synonym: "VD, venereal disease" EXACT [] synonym: "venereal disease" RELATED [MESH:D012749] -synonym: "venereal disease (VD)" EXACT [NCIT:C3365] +synonym: "venereal disease (VD)" EXACT [] synonym: "venereal diseases" RELATED [MESH:D012749] xref: ICD10CM:A50-A64 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD9:099.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -479198,7 +479290,7 @@ synonym: "Inflammatory polyneuropathy" RELATED [UMLS:C0032541] synonym: "inflammatory polyneuropathy" RELATED [] synonym: "Multiple neuritis" RELATED [GTR:AN1355640, HP:0031003] synonym: "Polyneuritides" RELATED [MESH:D009443] -synonym: "Polyneuritis" RELATED [GTR:AN1353837, HP:0031003, MESH:D009443, NCIT:C26864] +synonym: "Polyneuritis" RELATED [GTR:AN1353837, HP:0031003, MESH:D009443] synonym: "polyneuritis" EXACT [NCIT:C26864] xref: GTR:AN1353837 {source="UMLS:C0032541"} xref: GTR:AN1355640 {source="UMLS:C0032541"} @@ -479225,7 +479317,7 @@ replaced_by: MONDO:0000408 id: MONDO:0021722 name: vulvodynia def: "Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months." [Wikipedia:Vulvodynia] -synonym: "vulvodynia" EXACT [] +synonym: "vulvodynia" EXACT [icd11.foundation:1539507119] xref: icd11.foundation:1539507119 {source="MONDO:equivalentTo"} xref: ICD9:625.70 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:96066 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -479240,7 +479332,7 @@ id: MONDO:0021723 name: vaginismus def: "Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection." [NCIT:C78703] synonym: "myalgia of pelvic floor" EXACT [https://orcid.org/0000-0002-8169-9049, SCTID:712752004] -synonym: "vaginismus" EXACT [NCIT:C78703] +synonym: "vaginismus" EXACT [ICD10CM:N94.2] xref: ICD10CM:N94.2 {source="MONDO:equivalentTo"} xref: MEDGEN:412150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D052065 {source="MONDO:equivalentTo"} @@ -479295,7 +479387,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/5706/aberran id: MONDO:0021736 name: proctosigmoiditis def: "Inflammation of the sigmoid colon and rectum." [NCIT:C34950] -synonym: "Proctosigmoiditis" RELATED [MESH:D011350, NCIT:C34950] +synonym: "Proctosigmoiditis" RELATED [MESH:D011350] synonym: "proctosigmoiditis" EXACT [NCIT:C34950] synonym: "Rectosigmoiditis" RELATED [MESH:D011350] synonym: "rectosigmoiditis" RELATED [] @@ -479318,7 +479410,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "Itchy skin eruption" RELATED [UMLS:C0033771] synonym: "itchy skin eruption" RELATED [] synonym: "Prurigo" RELATED [MESH:D011536] -synonym: "prurigo" EXACT [] +synonym: "prurigo" EXACT [icd11.foundation:268810206] synonym: "Pruritic rash" RELATED [UMLS:C0033771] synonym: "pruritic rash" EXACT [] xref: icd11.foundation:268810206 {source="MONDO:equivalentTo"} @@ -479399,8 +479491,8 @@ name: pyonephrosis def: "Pus within the collecting system of the kidney." [NCIT:C123032] synonym: "Hydronephrosis, Infected" RELATED [MESH:D053018] synonym: "Infected Hydronephrosis" RELATED [MESH:D053018] -synonym: "Pyonephrosis" RELATED [MESH:D053018, NCIT:C123032] -synonym: "pyonephrosis" EXACT [NCIT:C123032] +synonym: "Pyonephrosis" RELATED [MESH:D053018] +synonym: "pyonephrosis" EXACT [icd11.foundation:809412333, NCIT:C123032] xref: icd11.foundation:809412333 {source="MONDO:equivalentTo"} xref: MEDGEN:11051 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D053018 {source="MONDO:equivalentTo", source="UMLS:C0034216"} @@ -479508,7 +479600,7 @@ synonym: "Inflammation, Nerve Root" RELATED [MESH:D011843] synonym: "Nerve Root Inflammation" RELATED [MESH:D011843] synonym: "Nerve Root Inflammations" RELATED [MESH:D011843] synonym: "Radiculitides" RELATED [MESH:D011843] -synonym: "Radiculitis" RELATED [MESH:D011843, NCIT:C78581] +synonym: "Radiculitis" RELATED [MESH:D011843] synonym: "radiculitis" EXACT [NCIT:C78581] xref: ICD9:729.2 xref: MEDGEN:11099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -479527,7 +479619,7 @@ synonym: "Active rheumatic fever with heart involvement" RELATED [UMLS:C0035440] synonym: "active rheumatic fever with heart involvement" RELATED [] synonym: "acute rheumatic carditis" RELATED [UMLS:C0035440] synonym: "acute rheumatic fever with heart involvement" RELATED [UMLS:C0035440] -synonym: "acute Rheumatic Heart Disease" RELATED [NCIT:C34985] +synonym: "acute Rheumatic Heart Disease" RELATED [] synonym: "acute rheumatic heart disease" EXACT [NCIT:C34985, UMLS:C0035440] xref: ICD9:391.8 xref: ICD9:391.9 @@ -479547,7 +479639,7 @@ synonym: "Strep throat" RELATED [UMLS:C0036689] synonym: "strep throat" EXACT [NCIT:C116003] synonym: "Strept throat" RELATED [UMLS:C0036689] synonym: "Streptococcal angina" RELATED [UMLS:C0036689] -synonym: "Streptococcal Pharyngitis" RELATED [NCIT:C116003] +synonym: "Streptococcal Pharyngitis" RELATED [] synonym: "Streptococcal pharyngitis" RELATED [UMLS:C0036689] synonym: "streptococcal pharyngitis" EXACT [NCIT:C116003] synonym: "Streptococcal sore throat" RELATED [UMLS:C0036689] @@ -479870,7 +479962,7 @@ synonym: "Snapping jaw" RELATED [UMLS:C0039496] synonym: "Syndrome, Costen's" RELATED [MESH:D013706] synonym: "Syndrome, Temporomandibular Joint" RELATED [MESH:D013706] synonym: "Syndrome, TMJ" RELATED [MESH:D013706] -synonym: "Temporomandibular Joint Dysfunction Syndrome" RELATED [MESH:D013706, NCIT:C35066] +synonym: "Temporomandibular Joint Dysfunction Syndrome" RELATED [MESH:D013706] synonym: "temporomandibular joint dysfunction syndrome" EXACT [NCIT:C35066] synonym: "Temporomandibular joint pain dysfunction syndrome" RELATED [UMLS:C0039496] synonym: "Temporomandibular Joint Syndrome" RELATED [MESH:D013706] @@ -479981,7 +480073,7 @@ replaced_by: MONDO:0010988 id: MONDO:0021913 name: aquagenic pruritus def: "Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success." [GARD:0010278] -synonym: "aquagenic pruritus" EXACT [] +synonym: "aquagenic pruritus" EXACT [icd11.foundation:1090223712] synonym: "water-induced itching" RELATED [] xref: icd11.foundation:1090223712 {source="MONDO:equivalentTo"} xref: ICD9:698.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -480065,8 +480157,8 @@ id: MONDO:0021925 name: tracheobronchitis def: "Inflammation of the tracheobronchial tree." [NCIT:C122784] subset: otar {source="MONDO:OTAR"} -synonym: "Tracheobronchitis" RELATED [NCIT:C122784] -synonym: "tracheobronchitis" EXACT [NCIT:C122784] +synonym: "Tracheobronchitis" RELATED [] +synonym: "tracheobronchitis" EXACT [icd11.foundation:1889351414, NCIT:C122784] xref: icd11.foundation:1889351414 {source="MONDO:equivalentTo"} xref: MEDGEN:508208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C122784 {source="MONDO:equivalentTo", source="UMLS:C0040586"} @@ -480095,7 +480187,7 @@ synonym: "Myositis ossificans circumscripta" RELATED [UMLS:C0040798] synonym: "myositis ossificans circumscripta" RELATED [] synonym: "Myositis ossificans traumatica" RELATED [UMLS:C0040798] synonym: "myositis ossificans traumatica" RELATED [] -synonym: "Traumatic Myositis Ossificans" RELATED [NCIT:C35081] +synonym: "Traumatic Myositis Ossificans" RELATED [] synonym: "Traumatic myositis ossificans" RELATED [UMLS:C0040798] synonym: "traumatic myositis ossificans" EXACT [NCIT:C35081] xref: ICD9:728.12 @@ -480113,7 +480205,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "chronic sleeping sickness" RELATED [UMLS:C0041232] synonym: "Gambian sleeping sickness" RELATED [GARD:0008540, UMLS:C0041232] -synonym: "Gambian trypanosomiasis" RELATED [NCIT:C35084, UMLS:C0041232] +synonym: "Gambian trypanosomiasis" RELATED [UMLS:C0041232] synonym: "Gambiense trypanosomiasis infection" RELATED [UMLS:C0041232] synonym: "Infection by Trypanosoma gambiense" EXACT [UMLS:C0041232] synonym: "Infection caused by Trypanosoma gambiense" RELATED [UMLS:C0041232] @@ -480198,7 +480290,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ANSD" EXACT ABBREVIATION [NCIT:C116364] synonym: "auditory dys-synchrony" EXACT [GARD:0009274, MESH:C538268, NCIT:C116364] -synonym: "auditory neuropathy" EXACT CLINGEN_LABEL [NCIT:C116364] +synonym: "auditory neuropathy" EXACT CLINGEN_LABEL [NCIT:C116364, OMIMPS:609129] synonym: "auditory neuropathy spectrum disorder" EXACT [NCIT:C116364] synonym: "familial auditory neuropathy" NARROW [MESH:C538268] synonym: "progressive auditory neuropathy" NARROW [MESH:C538268] @@ -480241,7 +480333,7 @@ subset: rare synonym: "Cutaneous Tuberculoses" RELATED [MESH:D014382] synonym: "Cutaneous Tuberculosis" RELATED [MESH:D014382] synonym: "Cutaneous tuberculosis" RELATED [UMLS:C0041309] -synonym: "cutaneous tuberculosis" EXACT [] +synonym: "cutaneous tuberculosis" EXACT [icd11.foundation:625292625] synonym: "Skin Tuberculoses" RELATED [MESH:D014382] synonym: "Skin Tuberculosis" RELATED [MESH:D014382] synonym: "Tuberculoderma" RELATED [UMLS:C0041309] @@ -480251,7 +480343,7 @@ synonym: "Tuberculoses, Skin" RELATED [MESH:D014382] synonym: "Tuberculosis cutis" RELATED [UMLS:C0041309] synonym: "tuberculosis cutis" RELATED [] synonym: "Tuberculosis of skin" RELATED [UMLS:C0041309] -synonym: "tuberculosis of skin" EXACT [] +synonym: "tuberculosis of skin" EXACT [icd11.foundation:625292625] synonym: "Tuberculosis, Cutaneous" RELATED [MESH:D014382] synonym: "Tuberculosis, Skin" RELATED [MESH:D014382] xref: icd11.foundation:625292625 {source="MONDO:equivalentTo"} @@ -480301,7 +480393,7 @@ name: tuberculous fibrosis of lung def: "Scarring of the lung parenchyma caused by pulmonary tuberculosis." [NCIT:C35088] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Tuberculous Fibrosis of Lung" RELATED [NCIT:C35088] +synonym: "Tuberculous Fibrosis of Lung" RELATED [] synonym: "Tuberculous fibrosis of lung" RELATED [UMLS:C0041336] synonym: "tuberculous fibrosis of lung" EXACT [NCIT:C35088] xref: ICD9:011.40 @@ -480339,8 +480431,8 @@ id: MONDO:0021960 name: ureteritis def: "An acute or chronic inflammatory process affecting the ureter." [NCIT:C78666] synonym: "Inflammation of ureter" RELATED [UMLS:C0041959] -synonym: "Ureteritis" RELATED [NCIT:C78666] -synonym: "ureteritis" EXACT [NCIT:C78666] +synonym: "Ureteritis" RELATED [] +synonym: "ureteritis" EXACT [icd11.foundation:817532938, NCIT:C78666] xref: icd11.foundation:817532938 {source="MONDO:equivalentTo"} xref: MEDGEN:21777 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C78666 {source="MONDO:equivalentTo", source="UMLS:C0041959"} @@ -480409,8 +480501,8 @@ replaced_by: MONDO:0009041 id: MONDO:0021977 name: basaloid follicular hamartoma def: "A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy." [NCIT:C4749] -synonym: "basal cell nevus with comedones" EXACT [] -synonym: "basaloid follicular hamartoma" EXACT [] +synonym: "basal cell nevus with comedones" EXACT [NCIT:C4749] +synonym: "basaloid follicular hamartoma" EXACT [icd11.foundation:648125144] xref: icd11.foundation:648125144 {source="MONDO:equivalentTo"} xref: ICD9:706.1 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:96887 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -480533,7 +480625,7 @@ subset: gard_rare {source="GARD:5951", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:870"} subset: rare synonym: "Bowenoid papulosis" EXACT [NCIT:C8374] -synonym: "bowenoid papulosis" EXACT [] +synonym: "bowenoid papulosis" EXACT [NCIT:C8374] synonym: "BP" RELATED ABBREVIATION [GARD:0005951] xref: GARD:5951 {source="MONDO:GARD"} xref: ICD9:447.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -480598,7 +480690,7 @@ synonym: "Immunoblastic Large Cell Lymphoma" RELATED [MESH:D016400] synonym: "IMMUNOBLASTIC LARGE LYMPHOMA" RELATED [MESH:D016400] synonym: "Immunoblastic Large-Cell Lymphoma" RELATED [MESH:D016400] synonym: "Immunoblastic Large-Cell Lymphomas" RELATED [MESH:D016400] -synonym: "Immunoblastic Lymphoma" RELATED [NCIT:C3461] +synonym: "Immunoblastic Lymphoma" RELATED [] synonym: "Immunoblastic Lymphoma, Large-Cell" RELATED [MESH:D016400] synonym: "Immunoblastic Lymphomas, Large-Cell" RELATED [MESH:D016400] synonym: "Immunoblastic Lymphosarcoma, Diffuse" RELATED [MESH:D016400] @@ -480747,20 +480839,20 @@ synonym: "angiogranuloma" RELATED [MESH:D017789] synonym: "angiogranulomas" RELATED [MESH:D017789] synonym: "Capillary hemangioma of granulation tissue type" RELATED [UMLS:C0085653] synonym: "Capillary Hemangioma, Lobular" RELATED [MESH:D017789] -synonym: "Granulation Tissue-Type Hemangioma" RELATED [NCIT:C3480] -synonym: "Granuloma Pyogenicum" RELATED [MESH:D017789, NCIT:C3480] +synonym: "Granulation Tissue-Type Hemangioma" RELATED [] +synonym: "Granuloma Pyogenicum" RELATED [MESH:D017789] synonym: "Granuloma pyogenicum" RELATED [UMLS:C0085653] synonym: "Granuloma telangiectaticum" RELATED [UMLS:C0085653] -synonym: "Granuloma Telangiecticum" RELATED [MESH:D017789, NCIT:C3480] +synonym: "Granuloma Telangiecticum" RELATED [MESH:D017789] synonym: "Granuloma, Pyogenic" RELATED [MESH:D017789] -synonym: "Granulomata Pyogenicum" RELATED [NCIT:C3480] +synonym: "Granulomata Pyogenicum" RELATED [] synonym: "hemangioma, Lobular Capillary" RELATED [MESH:D017789] -synonym: "hemangiomatous Granulation Tissue" RELATED [NCIT:C3480] +synonym: "hemangiomatous Granulation Tissue" RELATED [] synonym: "Lobular Capillary Hemangioma" RELATED [MESH:D017789] synonym: "Lobular capillary hemangioma" RELATED [GARD:0010963, UMLS:C0085653] -synonym: "Lobular Hemangioma" RELATED [NCIT:C3480] +synonym: "Lobular Hemangioma" RELATED [] synonym: "PG - Pyogenic granuloma" RELATED [UMLS:C0085653] -synonym: "Pyogenic Granuloma" RELATED [MESH:D017789, NCIT:C3480] +synonym: "Pyogenic Granuloma" RELATED [MESH:D017789] xref: MEDGEN:39085 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D017789 {source="MONDO:equivalentTo", source="UMLS:C0085653"} xref: NCIT:C3480 {source="UMLS:C0085653"} @@ -480774,7 +480866,7 @@ is_a: MONDO:0002407 {source="UMLS:C0085653"} ! capillary hemangioma id: MONDO:0022098 name: catamenial pneumothorax def: "Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery." [GARD:0009858] -synonym: "catamenial pneumothorax" EXACT [] +synonym: "catamenial pneumothorax" EXACT [icd11.foundation:1744257132] synonym: "premenstrual pneumothorax" RELATED [] xref: icd11.foundation:1744257132 {source="MONDO:equivalentTo"} xref: MEDGEN:83298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -480788,9 +480880,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9858/catamen id: MONDO:0022103 name: chronic prostatitis def: "An infectious or non-infectious chronic inflammatory process that affects the prostate gland." [NCIT:C26930] -synonym: "Chronic Prostatitis" RELATED [NCIT:C26930] +synonym: "Chronic Prostatitis" RELATED [] synonym: "Chronic prostatitis" RELATED [UMLS:C0085696] -synonym: "chronic prostatitis" EXACT [NCIT:C26930] +synonym: "chronic prostatitis" EXACT [icd11.foundation:249426483, NCIT:C26930] xref: icd11.foundation:249426483 {source="MONDO:equivalentTo"} xref: ICD9:601.1 xref: MEDGEN:88454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -480820,10 +480912,10 @@ subset: gard_rare {source="GARD:10826", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CCCA" RELATED ABBREVIATION [OMIM:618352] +synonym: "CCCA" RELATED ABBREVIATION [] synonym: "central centrifugal alopecia" RELATED [GARD:0010826] -synonym: "CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA" RELATED [OMIM:618352] -synonym: "central centrifugal cicatricial alopecia" EXACT [] +synonym: "CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA" RELATED [] +synonym: "central centrifugal cicatricial alopecia" EXACT [OMIM:618352] synonym: "hot comb alopecia" RELATED [] xref: GARD:10826 {source="MONDO:GARD"} xref: ICD9:704.09 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -480871,7 +480963,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1277/chitty- id: MONDO:0022171 name: chromhidrosis def: "A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms." [Wikipedia:Chromhidrosis] -synonym: "chromhidrosis" EXACT [] +synonym: "chromhidrosis" EXACT [ICD10CM:L75.1, icd11.foundation:864449620] synonym: "secretion of colored sweat" RELATED [] synonym: "secretion of coloured sweat" RELATED OMO:0003005 [] xref: ICD10CM:L75.1 {source="MONDO:equivalentTo"} @@ -480898,8 +480990,8 @@ synonym: "11q trisomy" EXACT [GARD:0001923] synonym: "chromosome 11q duplication" EXACT [GARD:0001923] synonym: "Duplication 11q" EXACT [GARD:0001923, MESH:C538297] synonym: "partial duplication of chromosome 11q" EXACT [Orphanet:262923] -synonym: "partial duplication of the long arm of chromosome 11" EXACT [MONDO:0016962] -synonym: "partial duplication of the long arm of chromosome type 11" EXACT [MONDORULE:2, Orphanet:262923] +synonym: "partial duplication of the long arm of chromosome 11" EXACT [MONDO:0016962, Orphanet:262923] +synonym: "partial duplication of the long arm of chromosome type 11" EXACT [MONDORULE:2] synonym: "partial trisomy 11q" EXACT [GARD:0001923] synonym: "partial trisomy of chromosome 11q" EXACT [Orphanet:262923] synonym: "partial trisomy of the long arm of chromosome 11" EXACT [Orphanet:262923] @@ -480924,17 +481016,17 @@ subset: disease_grouping subset: gard_rare {source="GARD:21404", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:316244"} subset: rare -synonym: "12p del" RELATED [NCIT:C36410] +synonym: "12p del" RELATED [] synonym: "12p deletion" RELATED [GARD:0006068] synonym: "12p monosomy" RELATED [GARD:0006068] -synonym: "12p-" RELATED [NCIT:C36410] -synonym: "del(12p)" RELATED [NCIT:C36410] +synonym: "12p-" RELATED [] +synonym: "del(12p)" RELATED [] synonym: "deletion 12p" RELATED [GARD:0006068, MESH:C538301] -synonym: "loss of chromosome 12p" RELATED [NCIT:C36410] +synonym: "loss of chromosome 12p" RELATED [] synonym: "monosomy 12p" RELATED [GARD:0006068, MESH:C538301] synonym: "partial deletion of chromosome 12p" EXACT [Orphanet:316244] -synonym: "partial deletion of the short arm of chromosome 12" EXACT [MONDO:0017848] -synonym: "partial deletion of the short arm of chromosome type 12" EXACT [MONDORULE:2, Orphanet:316244] +synonym: "partial deletion of the short arm of chromosome 12" EXACT [MONDO:0017848, Orphanet:316244] +synonym: "partial deletion of the short arm of chromosome type 12" EXACT [MONDORULE:2] synonym: "partial monosomy 12p" RELATED [GARD:0006068] synonym: "partial monosomy of chromosome 12p" EXACT [Orphanet:316244] synonym: "partial monosomy of the short arm of chromosome 12" EXACT [Orphanet:316244] @@ -480966,8 +481058,8 @@ synonym: "13q trisomy" EXACT [GARD:0001929] synonym: "chromosome 13q duplication" EXACT [GARD:0001929] synonym: "Duplication 13q" EXACT [GARD:0001929, MESH:C535485] synonym: "partial duplication of chromosome 13q" EXACT [Orphanet:262932] -synonym: "partial duplication of the long arm of chromosome 13" EXACT [MONDO:0016963] -synonym: "partial duplication of the long arm of chromosome type 13" EXACT [MONDORULE:2, Orphanet:262932] +synonym: "partial duplication of the long arm of chromosome 13" EXACT [MONDO:0016963, Orphanet:262932] +synonym: "partial duplication of the long arm of chromosome type 13" EXACT [MONDORULE:2] synonym: "partial trisomy 13q" EXACT [GARD:0001929] synonym: "partial trisomy of chromosome 13q" EXACT [Orphanet:262932] synonym: "partial trisomy of the long arm of chromosome 13" EXACT [Orphanet:262932] @@ -481061,7 +481153,7 @@ is_a: MONDO:0045040 ! locational disease characteristic id: MONDO:0022205 name: pustular psoriasis synonym: "Pustular psoriasis" RELATED [UMLS:C0152081] -synonym: "pustular psoriasis" EXACT [] +synonym: "pustular psoriasis" EXACT [icd11.foundation:64081271] xref: icd11.foundation:64081271 {source="MONDO:equivalentTo"} xref: ICD9:696.1 xref: MEDGEN:508876 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -481115,7 +481207,7 @@ is_a: MONDO:0006816 {source="UMLS:C0152087"} ! arthropathy id: MONDO:0022220 name: Parinaud syndrome def: "A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause." [NCIT:C54102] -synonym: "dorsal midbrain syndrome" RELATED [NCIT:C54102, UMLS:C0152222] +synonym: "dorsal midbrain syndrome" RELATED [UMLS:C0152222] synonym: "paralysis of vertical movement" RELATED [UMLS:C0152222] synonym: "Parinaud syndrome" EXACT [MESH:D015835, NCIT:C54102, UMLS:C0152222] synonym: "Parinaud's ophthalmoplegia" RELATED [UMLS:C0152222] @@ -481156,7 +481248,7 @@ replaced_by: MONDO:0018840 id: MONDO:0022293 name: vascular disorder of penis def: "A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma." [NCIT:C35218] -synonym: "Penile Vascular Disorder" RELATED [NCIT:C35218] +synonym: "Penile Vascular Disorder" RELATED [] synonym: "Penile vascular disorder" RELATED [UMLS:C0156307] synonym: "penile vascular disorder" EXACT [NCIT:C35218] synonym: "Penis vascular disorder" RELATED [UMLS:C0156307] @@ -481220,10 +481312,10 @@ name: hair defect with photosensitivity and intellectual disability syndrome def: "Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents." [] subset: ordo_malformation_syndrome {source="Orphanet:1408"} synonym: "Calderon Gonzalez-Cantu syndrome" EXACT [GARD:0002582] -synonym: "Calderón-González-Cantu syndrome" EXACT [Orphanet:1408] -synonym: "hair defect with photosensitivity and intellectual disability" RELATED [OMIM:234030] +synonym: "Calderón-González-Cantu syndrome" EXACT [] +synonym: "hair defect with photosensitivity and intellectual disability" RELATED [] synonym: "hair defect with photosensitivity and intellectual disability syndrome" EXACT [] -synonym: "hair defect with photosensitivity and mental retardation" RELATED DEPRECATED [OMIM:234030] +synonym: "hair defect with photosensitivity and mental retardation" RELATED DEPRECATED [] synonym: "hair defect-photosensitivity-intellectual disability syndrome" EXACT [MONDO:0009316] synonym: "kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability" RELATED [GARD:0002582] synonym: "kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation" RELATED DEPRECATED [GARD:0002582] @@ -481367,19 +481459,19 @@ subset: gard_rare {source="GARD:9244", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cervical Dysplasia" RELATED [NCIT:C3782] -synonym: "Cervical Intraepithelial Neoplasia" RELATED [MESH:D018290, NCIT:C3782] +synonym: "Cervical Dysplasia" RELATED [] +synonym: "Cervical Intraepithelial Neoplasia" RELATED [MESH:D018290] synonym: "Cervical intraepithelial neoplasia" RELATED [UMLS:C0206708] synonym: "Cervical Intraepithelial Neoplasm" RELATED [MESH:D018290] synonym: "Cervical Intraepithelial Neoplasms" RELATED [MESH:D018290] -synonym: "Cervix Intraepithelial Neoplasia" RELATED [NCIT:C3782] -synonym: "Cervix Uteri Intraepithelial Neoplasia" RELATED [NCIT:C3782] -synonym: "Intraepithelial Neoplasia of Cervix" RELATED [NCIT:C3782] -synonym: "Intraepithelial Neoplasia of Cervix Uteri" RELATED [NCIT:C3782] -synonym: "Intraepithelial Neoplasia of the Cervix" RELATED [NCIT:C3782] -synonym: "Intraepithelial Neoplasia of the Cervix Uteri" RELATED [NCIT:C3782] -synonym: "Intraepithelial Neoplasia of the Uterine Cervix" RELATED [NCIT:C3782] -synonym: "Intraepithelial Neoplasia of Uterine Cervix" RELATED [NCIT:C3782] +synonym: "Cervix Intraepithelial Neoplasia" RELATED [] +synonym: "Cervix Uteri Intraepithelial Neoplasia" RELATED [] +synonym: "Intraepithelial Neoplasia of Cervix" RELATED [] +synonym: "Intraepithelial Neoplasia of Cervix Uteri" RELATED [] +synonym: "Intraepithelial Neoplasia of the Cervix" RELATED [] +synonym: "Intraepithelial Neoplasia of the Cervix Uteri" RELATED [] +synonym: "Intraepithelial Neoplasia of the Uterine Cervix" RELATED [] +synonym: "Intraepithelial Neoplasia of Uterine Cervix" RELATED [] synonym: "Intraepithelial Neoplasia, Cervical" RELATED [MESH:D018290] synonym: "Intraepithelial Neoplasm, Cervical" RELATED [MESH:D018290] synonym: "Intraepithelial Neoplasms, Cervical" RELATED [MESH:D018290] @@ -481387,7 +481479,7 @@ synonym: "NEOPL CERVICAL INTRAEPITHELIAL" RELATED [MESH:D018290] synonym: "Neoplasia, Cervical Intraepithelial" RELATED [MESH:D018290] synonym: "Neoplasm, Cervical Intraepithelial" RELATED [MESH:D018290] synonym: "Neoplasms, Cervical Intraepithelial" RELATED [MESH:D018290] -synonym: "Uterine Cervix Intraepithelial Neoplasia" RELATED [NCIT:C3782] +synonym: "Uterine Cervix Intraepithelial Neoplasia" RELATED [] xref: GARD:9244 {source="MONDO:GARD"} xref: MEDGEN:60214 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D018290 {source="UMLS:C0206708"} @@ -482061,9 +482153,9 @@ is_a: MONDO:0005269 ! carotid artery disorder id: MONDO:0022538 name: leukoplakia of gingiva def: "A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis." [NCIT:C3881] -synonym: "Gingival Leukoplakia" RELATED [NCIT:C3881] +synonym: "Gingival Leukoplakia" RELATED [] synonym: "gingival leukoplakia" EXACT [NCIT:C3881] -synonym: "Leukoplakia of Gingiva" RELATED [NCIT:C3881] +synonym: "Leukoplakia of Gingiva" RELATED [] synonym: "Leukoplakia of gingiva" RELATED [UMLS:C0239737] synonym: "leukoplakia of gingiva" EXACT [NCIT:C3881] xref: ICD9:528.6 @@ -482285,11 +482377,11 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/892/billet-b id: MONDO:0022578 name: childhood bladder carcinoma def: "A rare carcinoma of the bladder that occurs during childhood." [NCIT:C118816] -synonym: "bladder cancer" BROAD [NCIT:C118816] +synonym: "bladder cancer" BROAD [] synonym: "bladder cancer childhood" RELATED [GARD:0009305] synonym: "bladder cancer, childhood" RELATED [GARD:0009305] synonym: "bladder carcinoma, childhood" RELATED [GARD:0009305] -synonym: "childhood bladder cancer" EXACT [GARD:0009305, NCIT:C118816] +synonym: "childhood bladder cancer" EXACT [GARD:0009305] synonym: "childhood bladder carcinoma" EXACT [GARD:0009305, NCIT:C118816] xref: MEDGEN:859269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C118816 {source="MONDO:equivalentTo"} @@ -482833,9 +482925,9 @@ def: "Degeneration of the cerebellum. It may be an inherited condition, a parane subset: otar {source="MONDO:OTAR"} synonym: "Brain degeneration" EXACT [DOID:1443] synonym: "cerebellar Degeneration" EXACT [NCIT:C84624] -synonym: "cerebellar degeneration" EXACT [] +synonym: "cerebellar degeneration" EXACT [NCIT:C84624] synonym: "cerebellum neurodegenerative disease" EXACT [MONDO:patterns/location] -synonym: "cerebral degeneration" RELATED [DOID:1443] +synonym: "cerebral degeneration" RELATED [] synonym: "neurodegenerative disease of cerebellum" EXACT [MONDO:design_pattern] xref: DOID:1443 {source="MONDO:equivalentTo"} xref: ICD9:331.9 {source="DOID:1443", source="MONDO:directSiblingOf"} @@ -482893,10 +482985,10 @@ id: MONDO:0022697 name: athetoid cerebral palsy def: "A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating." [NCIT:C97169] synonym: "ADCP" RELATED ABBREVIATION [Wikipedia:Athetoid_cerebral_palsy] -synonym: "athetoid cerebral palsy" EXACT [GARD:0010449] +synonym: "athetoid cerebral palsy" EXACT [GARD:0010449, ICD10CM:G80.3, NCIT:C97169] synonym: "athetoid dyskinetic cerebral palsy" EXACT [DOID:0050672] synonym: "cerebral palsy dyskinetic" RELATED [GARD:0010449] -synonym: "dyskinetic cerebral palsy" EXACT [Wikipedia:Athetoid_cerebral_palsy] +synonym: "dyskinetic cerebral palsy" EXACT [DOID:0050672, ICD10CM:G80.3, Wikipedia:Athetoid_cerebral_palsy] xref: DOID:0050672 {source="MONDO:equivalentTo"} xref: ICD10CM:G80.3 {source="MONDO:equivalentTo"} xref: MEDGEN:82853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -483036,7 +483128,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1308/chorior [Term] id: MONDO:0022735 name: choroid plexus cyst -synonym: "choroid plexus cyst" EXACT [] +synonym: "choroid plexus cyst" EXACT [NCIT:C4351] synonym: "CPC - choroid plexus cyst" RELATED [] xref: MEDGEN:87376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4351 {source="MONDO:equivalentTo"} @@ -483069,7 +483161,7 @@ name: choroideremia hypopituitarism def: "This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain." [] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CHM-hypopituitarism syndrome" EXACT [Orphanet:1434] +synonym: "CHM-hypopituitarism syndrome" EXACT [] synonym: "choroideraemia co-occurrent with hypopituitarism" RELATED [] synonym: "choroideraemia hypopituitarism" RELATED [] synonym: "choroideremia co-occurrent with hypopituitarism" RELATED [] @@ -483112,7 +483204,7 @@ synonym: "Industrial asthma" RELATED [UMLS:C0264423] synonym: "industrial asthma" RELATED [] synonym: "Occupational Asthma" RELATED [MESH:D059366] synonym: "Occupational asthma" RELATED [UMLS:C0264423] -synonym: "occupational asthma" EXACT [] +synonym: "occupational asthma" EXACT [DOID:0080820] synonym: "Occupational Asthmas" RELATED [MESH:D059366] xref: DOID:0080820 {source="MONDO:equivalentTo"} xref: MEDGEN:452342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -483161,7 +483253,7 @@ id: MONDO:0022749 name: non-neoplastic nevus def: "A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth." [NCIT:C3937] subset: otar {source="MONDO:OTAR"} -synonym: "Non-Neoplastic Nevus" RELATED [NCIT:C3937] +synonym: "Non-Neoplastic Nevus" RELATED [] synonym: "Non-neoplastic nevus" RELATED [UMLS:C0265027] synonym: "non-neoplastic nevus" EXACT [NCIT:C3937] xref: ICD9:448.1 @@ -483202,18 +483294,18 @@ synonym: "17p monosomy" RELATED [GARD:0006075] synonym: "17p- syndrome" RELATED [MESH:C538045] synonym: "chromosome 17p deletion" EXACT [GARD:0006075] synonym: "chromosome 17p deletion syndrome" RELATED [MESH:C538045] -synonym: "del(17p)" RELATED [NCIT:C36499] +synonym: "del(17p)" RELATED [] synonym: "deletion 17p" RELATED [GARD:0006075] synonym: "deletion 17p syndrome" RELATED [MESH:C538045] synonym: "interstitial deletion 17p" RELATED [MESH:C538045] -synonym: "loss of chromosome 17p" RELATED [NCIT:C36499] +synonym: "loss of chromosome 17p" RELATED [] synonym: "monosomy 17p" RELATED [GARD:0006075] synonym: "partial deletion of chromosome 17p" EXACT [Orphanet:261965] synonym: "partial deletion of the short arm of chromosome 17" EXACT [Orphanet:261965] synonym: "partial monosomy 17p" RELATED [MESH:C538045] synonym: "partial monosomy of chromosome 17p" EXACT [Orphanet:261965] -synonym: "partial monosomy of the short arm of chromosome 17" EXACT [MONDO:0016895] -synonym: "partial monosomy of the short arm of chromosome type 17" EXACT [MONDORULE:2, Orphanet:261965] +synonym: "partial monosomy of the short arm of chromosome 17" EXACT [MONDO:0016895, Orphanet:261965] +synonym: "partial monosomy of the short arm of chromosome type 17" EXACT [MONDORULE:2] xref: GARD:20817 {source="MONDO:GARD"} xref: ICD10CM:Q93.5 {source="Orphanet:261965/attributed", source="Orphanet:261965/ntbt", source="Orphanet:261965"} xref: icd11.foundation:527787991 {source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="Orphanet:261965"} @@ -483261,8 +483353,8 @@ synonym: "1q monosomy" RELATED [GARD:0008669] synonym: "deletion 1q" RELATED [GARD:0008669] synonym: "monosomy 1q" RELATED [GARD:0008669] synonym: "partial deletion of chromosome 1q" EXACT [Orphanet:262001] -synonym: "partial deletion of the long arm of chromosome 1" EXACT [MONDO:0016900] -synonym: "partial deletion of the long arm of chromosome type 1" EXACT [MONDORULE:1, Orphanet:262001] +synonym: "partial deletion of the long arm of chromosome 1" EXACT [MONDO:0016900, Orphanet:262001] +synonym: "partial deletion of the long arm of chromosome type 1" EXACT [MONDORULE:1] synonym: "partial monosomy 1q" RELATED [GARD:0008669] synonym: "partial monosomy of chromosome 1q" EXACT [Orphanet:262001] synonym: "partial monosomy of the long arm of chromosome 1" EXACT [Orphanet:262001] @@ -483346,8 +483438,8 @@ synonym: "22q monosomy" EXACT [GARD:0008668] synonym: "deletion 22q" EXACT [GARD:0008668] synonym: "monosomy 22q" EXACT [GARD:0008668] synonym: "partial deletion of chromosome 22q" EXACT [Orphanet:262182] -synonym: "partial deletion of the long arm of chromosome 22" EXACT [MONDO:0016920] -synonym: "partial deletion of the long arm of chromosome type 22" EXACT [MONDORULE:2, Orphanet:262182] +synonym: "partial deletion of the long arm of chromosome 22" EXACT [MONDO:0016920, Orphanet:262182] +synonym: "partial deletion of the long arm of chromosome type 22" EXACT [MONDORULE:2] synonym: "partial monosomy 22q" EXACT [GARD:0008668] synonym: "partial monosomy of chromosome 22q" EXACT [Orphanet:262182] synonym: "partial monosomy of the long arm of chromosome 22" EXACT [Orphanet:262182] @@ -483388,8 +483480,8 @@ synonym: "chromosome 4p deletion" EXACT [MESH:C537637] synonym: "deletion 4p" EXACT [MESH:C537637] synonym: "monosomy 4p" EXACT [MESH:C537637] synonym: "partial deletion of chromosome 4p" EXACT [Orphanet:261884] -synonym: "partial deletion of the short arm of chromosome 4" EXACT [MONDO:0016886] -synonym: "partial deletion of the short arm of chromosome type 4" EXACT [MONDORULE:1, Orphanet:261884] +synonym: "partial deletion of the short arm of chromosome 4" EXACT [MONDO:0016886, Orphanet:261884] +synonym: "partial deletion of the short arm of chromosome type 4" EXACT [MONDORULE:1] synonym: "partial monosomy 4p" EXACT [GARD:0006090] synonym: "partial monosomy of chromosome 4p" EXACT [Orphanet:261884] synonym: "partial monosomy of the short arm of chromosome 4" EXACT [Orphanet:261884] @@ -483465,7 +483557,7 @@ name: classic Kaposi sarcoma def: "A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation." [NCIT:C9112] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "classic Kaposi sarcoma" EXACT [NCIT:C9112] +synonym: "classic Kaposi sarcoma" EXACT [icd11.foundation:1595913346, NCIT:C9112] synonym: "classic Kaposi's sarcoma" EXACT [NCIT:C9112] synonym: "Kaposi sarcoma classical type" EXACT [NCIT:C9112] synonym: "Kaposi sarcoma, classic" EXACT [NCIT:C9112] @@ -483625,9 +483717,9 @@ id: MONDO:0022794 name: obsolete chromosome 8 deletion def: "OBSOLETE. A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8." [NCIT:C36535] synonym: "Anomaly of chromosome pair 8" RELATED [GARD:0012070, UMLS:C0265418] -synonym: "del(8)" RELATED [NCIT:C36535] +synonym: "del(8)" RELATED [] synonym: "Deletions of chromosome 8" RELATED [MESH:C537823] -synonym: "loss of chromosome 8" RELATED [NCIT:C36535] +synonym: "loss of chromosome 8" RELATED [] xref: MESH:C537823 {source="MONDO:relatedTo"} xref: NCIT:C36535 {source="MONDO:relatedTo"} xref: SCTID:48082007 {source="UMLS:C0265418", source="GARD:0012070"} @@ -484054,8 +484146,8 @@ name: cor biloculare def: "A congenital anatomic anomaly in which the heart has only two chambers." [NCIT:C124591] synonym: "absence of atrial and ventricular septa" RELATED [] synonym: "Cor Biloculare" EXACT [NCIT:C124591] -synonym: "cor biloculare" EXACT [] -synonym: "TWO-chambered heart" EXACT [NCIT:C124591] +synonym: "cor biloculare" EXACT [NCIT:C124591] +synonym: "TWO-chambered heart" EXACT [] xref: ICD9:745.7 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:56271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C124591 {source="MONDO:equivalentTo"} @@ -484486,7 +484578,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9530/cytokin [Term] id: MONDO:0022921 name: obsolete short stature-microcephaly-heart defect syndrome -synonym: "d'ercole syndrome" RELATED [GARD:0000233, Orphanet:2861] +synonym: "d'ercole syndrome" RELATED [GARD:0000233] synonym: "short stature microcephaly heart defect" RELATED [GARD:0000233] xref: Orphanet:2861 {source="MONDO:obsoleteEquivalentObsolete"} is_obsolete: true @@ -484705,7 +484797,7 @@ subset: gard_rare {source="GARD:8648", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Desmoplastic infantile ganglioglioma" EXACT [NCIT:C4738] +synonym: "Desmoplastic infantile ganglioglioma" EXACT [DOID:0081259, NCIT:C4738] synonym: "DIG" EXACT ABBREVIATION [GARD:0008648, NCIT:C4738, ONCOTREE:DIG] xref: DOID:0081259 {source="MONDO:equivalentTo"} xref: GARD:8648 {source="MONDO:GARD"} @@ -484841,8 +484933,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:617916"} subset: orphanet_rare {source="Orphanet:617916"} subset: rare -synonym: "diffuse idiopathic pulmonary neuroendocrine cell hyperplasia" EXACT [NCIT:C7437] -synonym: "DIP-NECH" EXACT [NCIT:C7437] +synonym: "diffuse idiopathic pulmonary neuroendocrine cell hyperplasia" EXACT [icd11.foundation:1480946725, NCIT:C7437, Orphanet:617916] +synonym: "DIP-NECH" EXACT [] synonym: "DIPNECH" EXACT ABBREVIATION [GARD:0010780, NCIT:C7437] xref: GARD:10780 {source="MONDO:GARD"} xref: icd11.foundation:1480946725 {source="MONDO:equivalentTo"} @@ -484900,9 +484992,9 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10715/diploi id: MONDO:0022993 name: dipsogenic diabetes insipidus def: "Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism." [NCIT:C129735] -synonym: "Dipsogenic diabetes insipidus" EXACT [NCIT:C129735] -synonym: "dipsogenic diabetes insipidus" EXACT [] -synonym: "primary polydipsia" BROAD [GARD:0010703, NCIT:C129735] +synonym: "Dipsogenic diabetes insipidus" EXACT [DOID:0081058, NCIT:C129735] +synonym: "dipsogenic diabetes insipidus" EXACT [DOID:0081058, NCIT:C129735] +synonym: "primary polydipsia" BROAD [GARD:0010703] xref: DOID:0081058 {source="MONDO:equivalentTo"} xref: MEDGEN:82829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C548013 {source="MONDO:equivalentTo"} @@ -485127,7 +485219,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/1992/dwarfis id: MONDO:0023023 name: neonatal dacryocystitis def: "Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection." [NCIT:C116819] -synonym: "Neonatal Dacryocystitis" RELATED [NCIT:C116819] +synonym: "Neonatal Dacryocystitis" RELATED [] synonym: "Neonatal dacryocystitis" RELATED [UMLS:C0270178] synonym: "neonatal dacryocystitis" EXACT [NCIT:C116819] xref: MEDGEN:542581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -485311,11 +485403,11 @@ subset: rare synonym: "Dejerine Klumpke Palsy" RELATED [MESH:D020516] synonym: "Dejerine-Klumpke Palsy" RELATED [MESH:D020516] synonym: "Dejerine-Klumpke palsy" RELATED [GARD:0003123] -synonym: "Klumpke Palsy" RELATED [MESH:D020516, NCIT:C116724] +synonym: "Klumpke Palsy" RELATED [MESH:D020516] synonym: "Klumpke Paralysis" RELATED [MESH:D020516] synonym: "Klumpke paralysis" RELATED [UMLS:C0270898] synonym: "klumpke paralysis" RELATED [] -synonym: "Klumpke's Palsy" RELATED [MESH:D020516, NCIT:C116724] +synonym: "Klumpke's Palsy" RELATED [MESH:D020516] synonym: "Klumpke's palsy" RELATED [GARD:0003123, UMLS:C0270898] synonym: "klumpke's palsy" RELATED [] synonym: "Klumpke's paralysis" RELATED [UMLS:C0270898] @@ -485420,7 +485512,7 @@ id: MONDO:0023069 name: enlarged vestibular aqueduct syndrome subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "enlarged vestibular aqueduct" RELATED [DOID:0050332] +synonym: "enlarged vestibular aqueduct" RELATED [] synonym: "enlarged vestibular aqueduct syndrome" EXACT CLINGEN_LABEL [] synonym: "large vestibular aqueduct syndrome" RELATED [GARD:0008651] xref: DOID:0050332 {source="MONDO:equivalentTo"} @@ -485547,7 +485639,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10800/exerti id: MONDO:0023094 name: exogenous ochronosis def: "Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria." [GARD:0010757] -synonym: "exogenous ochronosis" EXACT [MESH:C531762] +synonym: "exogenous ochronosis" EXACT [icd11.foundation:835922687, MESH:C531762] synonym: "ochronosis, acquired" RELATED [GARD:0010757] synonym: "ocular ochronosis" RELATED [MESH:C531762] synonym: "pseudo-ochronosis" RELATED [MESH:C531762] @@ -485736,7 +485828,7 @@ def: "Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and sever subset: gard_rare {source="GARD:9516", source="MONDO:GARD"} subset: rare synonym: "A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA)" RELATED [GARD:0009516] -synonym: "febrile ulceronecrotic Mucha-Habermann disease" EXACT [] +synonym: "febrile ulceronecrotic Mucha-Habermann disease" EXACT [icd11.foundation:1408299147] synonym: "febrile ulceronecrotic pityriasis lichenoides acuta" EXACT [] synonym: "FUMHD" RELATED ABBREVIATION [GARD:0009516] synonym: "ulceronecrotic Mucha-Habermann disease" RELATED [GARD:0009516, MESH:C537077] @@ -485884,7 +485976,7 @@ name: tuberculous ascites def: "A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum." [doi:10.5772/intechopen.70417, https://orcid.org/0000-0002-6670-9157] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "tuberculous ascites" EXACT [NCIT:C27076, UMLS:C0275919] +synonym: "tuberculous ascites" EXACT [icd11.foundation:1747509566, NCIT:C27076, UMLS:C0275919] xref: icd11.foundation:1747509566 {source="MONDO:equivalentTo"} xref: MEDGEN:78815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27076 {source="MONDO:equivalentTo", source="UMLS:C0275919"} @@ -485954,9 +486046,9 @@ def: "Myocarditis that is caused by an infection with a viral agent." [NCIT:C128 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Viral Myocarditis" RELATED [NCIT:C128381] +synonym: "Viral Myocarditis" RELATED [] synonym: "Viral myocarditis" RELATED [UMLS:C0276138] -synonym: "viral myocarditis" EXACT [NCIT:C128381] +synonym: "viral myocarditis" EXACT [icd11.foundation:231270764, NCIT:C128381] xref: icd11.foundation:231270764 {source="MONDO:equivalentTo"} xref: MEDGEN:547112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C128381 {source="MONDO:equivalentTo", source="UMLS:C0276138"} @@ -485971,9 +486063,9 @@ intersection_of: MONDO:0100332 NCBITaxon:10239 ! disease has primary infectious id: MONDO:0023164 name: viral pericarditis def: "Pericarditis that is caused by an infection with a viral agent." [NCIT:C128405] -synonym: "Viral Pericarditis" RELATED [NCIT:C128405] +synonym: "Viral Pericarditis" RELATED [] synonym: "Viral pericarditis" RELATED [UMLS:C0276139] -synonym: "viral pericarditis" EXACT [NCIT:C128405] +synonym: "viral pericarditis" EXACT [icd11.foundation:624707101, NCIT:C128405] xref: icd11.foundation:624707101 {source="MONDO:equivalentTo"} xref: MEDGEN:547113 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C128405 {source="MONDO:equivalentTo", source="UMLS:C0276139"} @@ -486303,7 +486395,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "functional pancreatic NET" EXACT [NCIT:C45840] synonym: "functional pancreatic neuroendocrine tumor" EXACT [NCIT:C45840] -synonym: "functioning neuroendocrine tumor of pancreas" RELATED [Orphanet:506060] +synonym: "functioning neuroendocrine tumor of pancreas" RELATED [] synonym: "functioning neuroendocrine tumour of pancreas" RELATED OMO:0003005 [] synonym: "functioning pancreatic endocrine tumor" EXACT [NCIT:C45840] synonym: "functioning pancreatic endocrine tumour" EXACT OMO:0003005 [] @@ -486463,7 +486555,7 @@ subset: gard_rare {source="GARD:6502", source="MONDO:GARD"} subset: nord_rare {source="NORD:1183", source="MONDO:NORD"} subset: rare synonym: "GCM" RELATED ABBREVIATION [GARD:0006502] -synonym: "giant cell myocarditis" EXACT [NCIT:C97055] +synonym: "giant cell myocarditis" EXACT [icd11.foundation:507103735, NCIT:C97055] synonym: "idiopathic giant-cell myocarditis" RELATED [GARD:0006502] xref: GARD:6502 {source="MONDO:GARD"} xref: icd11.foundation:507103735 {source="MONDO:equivalentTo"} @@ -486640,7 +486732,7 @@ def: "A morphologic variant of dermatofibrosarcoma protuberans characterized by subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bednar Tumor" RELATED [MESH:D018223, NCIT:C9430] +synonym: "Bednar Tumor" RELATED [MESH:D018223] synonym: "bednar tumor" EXACT [NCIT:C9430] synonym: "Bednar Tumour" RELATED OMO:0003005 [] synonym: "bednar tumour" EXACT OMO:0003005 [] @@ -486654,10 +486746,10 @@ synonym: "DFSP, Pigmented" RELATED [MESH:D018223] synonym: "DFSPs, Pigmented" RELATED [MESH:D018223] synonym: "Pigmented dermatofibrosarcoma" RELATED [UMLS:C0334464] synonym: "Pigmented Dermatofibrosarcoma Protuberan" RELATED [MESH:D018223] -synonym: "Pigmented Dermatofibrosarcoma Protuberans" RELATED [MESH:D018223, NCIT:C9430] +synonym: "Pigmented Dermatofibrosarcoma Protuberans" RELATED [MESH:D018223] synonym: "Pigmented dermatofibrosarcoma protuberans" RELATED [GARD:0009624, UMLS:C0334464] synonym: "pigmented dermatofibrosarcoma protuberans" EXACT [NCIT:C9430] -synonym: "Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)" RELATED [NCIT:C9430] +synonym: "Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)" RELATED [] synonym: "pigmented dermatofibrosarcoma protuberans (bednar tumor)" EXACT [NCIT:C9430] synonym: "Pigmented dermatofibrosarcoma protuberans of skin" RELATED [UMLS:C0334464] synonym: "Pigmented DFSP" RELATED [MESH:D018223] @@ -486684,7 +486776,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:2111"} subset: orphanet_rare {source="Orphanet:2111"} subset: rare -synonym: "cystic hamartoma of lung and kidney" EXACT [GARD:0002557] +synonym: "cystic hamartoma of lung and kidney" EXACT [GARD:0002557, Orphanet:2111] synonym: "cystic hamartomata of lung and kidney" RELATED [MESH:C537292] synonym: "graham Boyle Troxell syndrome" EXACT [] synonym: "Graham-Boyle-Troxell syndrome" EXACT [Orphanet:2111] @@ -486789,7 +486881,7 @@ id: MONDO:0023297 name: guttate psoriasis def: "Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy." [GARD:0010569] subset: otar {source="MONDO:OTAR"} -synonym: "guttate psoriasis" EXACT [] +synonym: "guttate psoriasis" EXACT [ICD10CM:L40.4, icd11.foundation:1202062855] synonym: "psoriasis guttata" RELATED [] synonym: "psoriasis guttate" RELATED [GARD:0010569] xref: ICD10CM:L40.4 {source="MONDO:equivalentTo"} @@ -486893,7 +486985,7 @@ is_a: MONDO:0005093 ! skin disorder id: MONDO:0023415 name: congenital candidiasis def: "A fungal infection by any of the Candida species that is present at birth." [NCIT:C116811] -synonym: "Congenital Candidiasis" RELATED [NCIT:C116811] +synonym: "Congenital Candidiasis" RELATED [] synonym: "Congenital candidiasis" RELATED [UMLS:C0343875] synonym: "congenital candidiasis" EXACT [NCIT:C116811] synonym: "Congenital candidosis" RELATED [UMLS:C0343875] @@ -486941,7 +487033,7 @@ name: infectious myositis def: "An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain." [NCIT:C26984] subset: gard_rare {source="GARD:9131", source="MONDO:GARD"} subset: rare -synonym: "infectious myositis" EXACT [NCIT:C26984] +synonym: "infectious myositis" EXACT [icd11.foundation:82568660, NCIT:C26984] synonym: "infective myositis" EXACT [NCIT:C26984] xref: GARD:9131 {source="MONDO:GARD"} xref: icd11.foundation:82568660 {source="MONDO:equivalentTo"} @@ -487126,7 +487218,7 @@ def: "An infectious process affecting the vagina. Symptoms include pain and puru subset: otar {source="MONDO:OTAR"} synonym: "Infective vaginitis" RELATED [UMLS:C0404521] synonym: "PV - Vaginal infection" RELATED [UMLS:C0404521] -synonym: "Vaginal Infection" RELATED [NCIT:C84353] +synonym: "Vaginal Infection" RELATED [] synonym: "Vaginal infection" RELATED [UMLS:C0404521] synonym: "vaginal infection" EXACT [NCIT:C84353] xref: icd11.foundation:1436361154 {source="MONDO:equivalentTo"} @@ -487298,9 +487390,9 @@ subset: gard_rare {source="GARD:9134", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Congenital Myotonic dystrophies" RELATED [MESH:D009223] -synonym: "Congenital Myotonic dystrophy" RELATED [MESH:D009223, NCIT:C123308] +synonym: "Congenital Myotonic dystrophy" RELATED [MESH:D009223] synonym: "Congenital myotonic dystrophy" RELATED [UMLS:C0410226] -synonym: "congenital myotonic dystrophy" EXACT [NCIT:C123308] +synonym: "congenital myotonic dystrophy" EXACT [icd11.foundation:599230687, NCIT:C123308] synonym: "dystrophies, Congenital Myotonic" RELATED [MESH:D009223] synonym: "dystrophy, Congenital Myotonic" RELATED [MESH:D009223] synonym: "Myotonic dystrophies, Congenital" RELATED [MESH:D009223] @@ -487327,7 +487419,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "juvenile laryngeal papillomatosis" RELATED [MESH:C537876] synonym: "juvenile laryngeal papillomatosis (subtype)" RELATED [GARD:0006864] -synonym: "laryngeal papillomatosis" EXACT [] +synonym: "laryngeal papillomatosis" EXACT [NCIT:C157733] synonym: "recurrent laryngeal papillomatosis" RELATED [MESH:C537876] synonym: "recurrent laryngeal papillomatosis (subtype)" RELATED [GARD:0006864] synonym: "Warts in the throat" RELATED [GARD:0006864, MESH:C537876] @@ -487347,7 +487439,7 @@ id: MONDO:0023599 name: mesomelic dysplasia def: "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)." [NCIT:C121156] synonym: "Mesomelic dwarf" RELATED [UMLS:C0410536] -synonym: "Mesomelic Dysplasia" RELATED [NCIT:C121156] +synonym: "Mesomelic Dysplasia" RELATED [] synonym: "Mesomelic dysplasia" RELATED [UMLS:C0410536] synonym: "mesomelic dysplasia" EXACT [NCIT:C121156] synonym: "mesomelic dysplasias" EXACT [NCIT:C121156] @@ -487385,7 +487477,7 @@ name: hereditary disorder of connective tissue def: "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome." [NCIT:C97075] subset: otar {source="MONDO:OTAR"} synonym: "connective tissue hereditary disorder" EXACT [NCIT:C97075, UMLS:C0410787] -synonym: "Hereditary Connective Tissue Disorder" RELATED [NCIT:C97075] +synonym: "Hereditary Connective Tissue Disorder" RELATED [] synonym: "hereditary connective tissue disorder" EXACT [NCIT:C97075] synonym: "Inherited disorder of connective tissue" RELATED [UMLS:C0410787] synonym: "inherited disorder of connective tissue" RELATED [] @@ -487589,7 +487681,7 @@ name: developmental and epileptic encephalopathy 96 subset: gard_rare {source="GARD:16445", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE96" EXACT ABBREVIATION [OMIM:619340] +synonym: "DEE96" EXACT ABBREVIATION [DOID:0070377, OMIM:619340] xref: DOID:0070377 {source="MONDO:equivalentTo"} xref: GARD:16445 {source="MONDO:GARD"} xref: MEDGEN:1780167 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -487640,7 +487732,7 @@ replaced_by: MONDO:0008318 [Term] id: MONDO:0023664 name: spermatogenic failure 54 -synonym: "SPGF54" EXACT ABBREVIATION [OMIM:619379] +synonym: "SPGF54" EXACT ABBREVIATION [DOID:0112335, OMIM:619379] xref: DOID:0112335 {source="MONDO:equivalentTo"} xref: MEDGEN:1782493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619379 {source="MONDO:equivalentTo"} @@ -487708,7 +487800,7 @@ synonym: "Glomus tympanicum tumour" RELATED OMO:0003005 [] synonym: "Glomus Tympanicum Tumours" RELATED OMO:0003005 [] synonym: "Tumor, Glomus Tympanicum" RELATED [MESH:D043604] synonym: "Tumors, Glomus Tympanicum" RELATED [MESH:D043604] -synonym: "Tympanic Paraganglioma" RELATED [NCIT:C8428] +synonym: "Tympanic Paraganglioma" RELATED [] synonym: "Tympanic paraganglioma" RELATED [UMLS:C0474820] synonym: "tympanic paraganglioma" EXACT [NCIT:C8428] xref: GTR:AN0102047 {source="UMLS:C0474820"} @@ -487730,7 +487822,7 @@ subset: gard_rare {source="GARD:8594", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "maple syrup urine disease type 1A" EXACT CLINGEN_LABEL [] -synonym: "maple syrup urine disease, type IA" EXACT [OMIM:248600] +synonym: "maple syrup urine disease, type IA" EXACT [] synonym: "MSUD type 1A" RELATED [GARD:0008594] xref: GARD:8594 {source="MONDO:GARD"} xref: MEDGEN:383668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -487895,8 +487987,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9417/meralgi id: MONDO:0023807 name: obsolete midphalangeal hair subset: not_a_disease -synonym: "Middigital hair" RELATED [GARD:0009992, OMIM:157200] -synonym: "midphalangeal hair" RELATED [OMIM:157200] +synonym: "Middigital hair" RELATED [GARD:0009992] +synonym: "midphalangeal hair" RELATED [] xref: MESH:C537471 {source="MONDO:obsoleteEquivalent"} xref: OMIM:157200 {source="MONDO:obsoleteEquivalent", source="GARD:0009992"} is_obsolete: true @@ -487950,7 +488042,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "corneal infection" EXACT [NCIT:C83813, UMLS:C0729777] synonym: "infection of cornea" EXACT [UMLS:C0729777] -synonym: "infective keratitis" EXACT [https://orcid.org/0000-0002-6601-2165] +synonym: "infective keratitis" EXACT [https://orcid.org/0000-0002-6601-2165, Orphanet:519278] synonym: "keratitis caused by infection" EXACT [https://orcid.org/0000-0002-6601-2165] xref: MEDGEN:152673 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C83813 {source="UMLS:C0729777", source="MONDO:equivalentTo"} @@ -488188,8 +488280,8 @@ id: MONDO:0024236 name: obsolete degenerative disorder def: "OBSOLETE. A disorder characterized by the progressive loss of function and/or structure of the affected tissues." [NCIT:C27090] comment: The subclasses were not a disease but a feature or a process. -synonym: "degenerative disease" EXACT [NCIT:C27090] -synonym: "degenerative disorder" EXACT [NCIT:C27090] +synonym: "degenerative disease" EXACT [] +synonym: "degenerative disorder" EXACT [] xref: ICD9:796.4 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: NCIT:C27090 {source="MONDO:ObsoleteEquivalent"} xref: SCTID:362975008 {source="MONDO:ObsoleteEquivalent"} @@ -488206,7 +488298,7 @@ subset: gard_rare {source="GARD:20280", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:183500"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "genetic neurodegenerative disease" EXACT [MONDO:0015952, MONDO:patterns/genetic] +synonym: "genetic neurodegenerative disease" EXACT [MONDO:0015952, MONDO:patterns/genetic, Orphanet:183500] synonym: "hereditary neurodegenerative disease" EXACT [MONDO:patterns/hereditary] synonym: "hereditary neurodegenerative disorder" EXACT [NCIT:C97073] xref: GARD:20280 {source="MONDO:GARD"} @@ -488243,7 +488335,7 @@ def: "A disease that has its basis in the disruption of cardiovascular system de subset: otar {source="MONDO:OTAR"} synonym: "cardiovascular system development disease" EXACT [MONDO:design_pattern] synonym: "congenital Abnormality of the circulatory system" EXACT [NCIT:C35729] -synonym: "congenital anomaly of cardiovascular system" EXACT [] +synonym: "congenital anomaly of cardiovascular system" EXACT [NCIT:C35729] synonym: "congenital cardiovascular Abnormality" EXACT [NCIT:C35729] synonym: "congenital cardiovascular anomaly" EXACT [NCIT:C35729] synonym: "congenital cardiovascular disorder" RELATED [] @@ -488267,7 +488359,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "carcinoma of eccrine sweat gland" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma, eccrine gland, malignant" EXACT [NCIT:C27255] synonym: "eccrine adenocarcinoma" EXACT [DOID:4920, NCIT:C27255] -synonym: "eccrine adenocarcinoma (morphologic abnormality)" EXACT [DOID:4920] +synonym: "eccrine adenocarcinoma (morphologic abnormality)" EXACT [] synonym: "eccrine carcinoma" EXACT [NCIT:C27255] synonym: "eccrine carcinoma of skin" EXACT [] synonym: "eccrine sweat gland adenocarcinoma" EXACT [MONDO:patterns/location] @@ -488291,8 +488383,8 @@ synonym: "anaplastic syringoma" EXACT [DOID:5570] synonym: "ductal eccrine adenocarcinoma" EXACT [NCIT:C43345] synonym: "ductal eccrine carcinoma" EXACT [NCIT:C43345] synonym: "eccrine ductal carcinoma" EXACT [DOID:5570] -synonym: "eccrine ductal carcinoma (morphologic abnormality)" RELATED [DOID:5570] -synonym: "eccrine ductal carcinoma of skin" RELATED [DOID:5570] +synonym: "eccrine ductal carcinoma (morphologic abnormality)" RELATED [] +synonym: "eccrine ductal carcinoma of skin" RELATED [] synonym: "hidradenocarcinoma" RELATED [Wikipedia:Hidradenocarcinoma] synonym: "malignant acrospiroma" EXACT [DOID:5570, MONDO:0003520] synonym: "malignant hidradenoma" RELATED [Wikipedia:Hidradenocarcinoma] @@ -488311,11 +488403,11 @@ is_a: MONDO:0024240 {source="NCIT:C43345"} ! eccrine carcinoma id: MONDO:0024246 name: syringofibroadenoma def: "A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma." [NCIT:C43356] -synonym: "acrosyringeal adenomatosis" EXACT [HP:0031018, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] -synonym: "acrosyringeal nevus" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/] +synonym: "acrosyringeal adenomatosis" EXACT [HP:0031018, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/, NCIT:C43356] +synonym: "acrosyringeal nevus" EXACT [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860616/table/tbl2/, NCIT:C43356] synonym: "eccrine syringofibroadenoma" EXACT [NCIT:C43356] synonym: "eccrine syringofibroadenoma of skin" RELATED [] -synonym: "eccrine syringofibroadenomatous hyperplasia" EXACT [HP:0031018] +synonym: "eccrine syringofibroadenomatous hyperplasia" EXACT [HP:0031018, NCIT:C43356] synonym: "syringofibroadenoma" EXACT [HP:0031018, NCIT:C43356] xref: HP:0031018 {source="MONDO:otherHierarchy"} xref: ICDO:8392/0 {source="NCIT:C43356"} @@ -488376,8 +488468,8 @@ synonym: "acute Pityriasis Lichenoides" NARROW [MESH:D017514] synonym: "chronic Pityriasis Lichenoides" NARROW [MESH:D017514] synonym: "parapsoriasis en gouttes" RELATED [] synonym: "parapsoriasis guttata" RELATED [] -synonym: "Pityriasis Lichenoides" EXACT [NCIT:C85013] -synonym: "pityriasis lichenoides" EXACT [] +synonym: "Pityriasis Lichenoides" EXACT [icd11.foundation:266281219, NCIT:C85013] +synonym: "pityriasis lichenoides" EXACT [icd11.foundation:266281219, NCIT:C85013] synonym: "Pityriasis Lichenoides chronica" RELATED [MESH:D017514] synonym: "Pityriasis Lichenoides et Varioliformis Acuta" RELATED [MESH:D017514] synonym: "Pityriasis Lichenoides, acute" RELATED [MESH:D017514] @@ -488470,7 +488562,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98505"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "genetic anterior horn cell disease" EXACT [Orphanet:98505] -synonym: "genetic motor neuron disease" EXACT [MONDO:patterns/hereditary] +synonym: "genetic motor neuron disease" EXACT [MONDO:patterns/hereditary, Orphanet:98505] synonym: "hereditary motor neuron disease" EXACT [MONDO:patterns/hereditary] xref: GARD:19478 {source="MONDO:GARD"} xref: MEDGEN:78728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -488510,20 +488602,20 @@ def: "A congenital hypothyroidism that has material basis in heterozygous mutati subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "athyreotic hypothyroidism" RELATED [OMIM:218700] +synonym: "athyreotic hypothyroidism" RELATED [] synonym: "CHNG2" EXACT ABBREVIATION [DOID:0070124, OMIM:218700] synonym: "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia" EXACT [DOID:0070124] -synonym: "congenital nongoitrous hypothyroidism 2" RELATED [DOID:0070124] -synonym: "hypothyroidism, athyreotic" RELATED [OMIM:218700] -synonym: "hypothyroidism, congenital, due to thyroid dysgenesis" RELATED [OMIM:218700] -synonym: "hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia" EXACT [OMIM:218700, OMIM:genemap2] +synonym: "congenital nongoitrous hypothyroidism 2" RELATED [] +synonym: "hypothyroidism, athyreotic" RELATED [] +synonym: "hypothyroidism, congenital, due to thyroid dysgenesis" RELATED [] +synonym: "hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia" EXACT [] synonym: "hypothyroidism, congenital, nongoitrous, 2" EXACT [OMIM:218700] -synonym: "resistance to thyrotropin" RELATED [OMIM:218700] -synonym: "thyroid agenesis" RELATED [OMIM:218700] -synonym: "thyroid dysgenesis" RELATED [OMIM:218700] -synonym: "thyroid hypoplasia" RELATED [OMIM:218700] -synonym: "thyroid, ectopic" RELATED [OMIM:218700] -synonym: "thyrotropin resistance" RELATED [OMIM:218700] +synonym: "resistance to thyrotropin" RELATED [] +synonym: "thyroid agenesis" RELATED [] +synonym: "thyroid dysgenesis" RELATED [] +synonym: "thyroid hypoplasia" RELATED [] +synonym: "thyroid, ectopic" RELATED [] +synonym: "thyrotropin resistance" RELATED [] xref: DOID:0070124 {source="MONDO:equivalentTo"} xref: ICD10CM:E03.1 {source="DOID:0070124"} xref: MEDGEN:358389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -488548,12 +488640,12 @@ def: "Duane syndrome type 1 is the most common type of Duane syndrome, an eye mo subset: gard_rare {source="GARD:10763", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Drs" RELATED [OMIM:126800] -synonym: "Duane anomaly" RELATED [OMIM:126800] +synonym: "Drs" RELATED [] +synonym: "Duane anomaly" RELATED [] synonym: "Duane retraction syndrome 1" EXACT [OMIM:126800] -synonym: "Duane syndrome" RELATED [OMIM:126800] +synonym: "Duane syndrome" RELATED [] synonym: "DURS1" EXACT ABBREVIATION [OMIM:126800] -synonym: "retraction syndrome" RELATED [OMIM:126800] +synonym: "retraction syndrome" RELATED [] xref: GARD:10763 {source="MONDO:GARD"} xref: MEDGEN:201329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:126800 {source="MONDO:equivalentTo", source="GARD:0010763"} @@ -488595,7 +488687,7 @@ id: MONDO:0024268 name: superficial mycosis def: "A mycosis that is limited to the stratum corneum and essentially elicits no inflammation." [https://www.ncbi.nlm.nih.gov/books/NBK7902/] subset: otar {source="MONDO:OTAR"} -synonym: "piedra" NARROW [DOID:0050133] +synonym: "piedra" NARROW [] synonym: "steroid-modified tinea infection" EXACT [DOID:0050133] synonym: "stratum corneum of epidermis fungal infectious disease" EXACT [MONDO:patterns/location] xref: DOID:0050133 {source="MONDO:equivalentTo"} @@ -488744,7 +488836,7 @@ intersection_of: disease_has_inflammation_site UBERON:0012652 ! colorectum id: MONDO:0024279 name: chronic endometritis def: "A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding." [NCIT:C102820] -synonym: "chronic endometritis" EXACT [NCIT:C102820] +synonym: "chronic endometritis" EXACT [icd11.foundation:440849195, NCIT:C102820] synonym: "endometritis, chronic" EXACT [MONDO:patterns/chronic] xref: icd11.foundation:440849195 {source="MONDO:equivalentTo"} xref: MEDGEN:536766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -488865,7 +488957,7 @@ name: congenital vascular malformation def: "A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels." [NCIT:C112117] subset: otar {source="MONDO:OTAR"} synonym: "congenital vascular malformation" EXACT [MONDO:patterns/congenital] -synonym: "vascular malformation" BROAD [NCIT:C112117] +synonym: "vascular malformation" BROAD [] xref: MEDGEN:743837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C112117 {source="MONDO:equivalentTo"} xref: UMLS:C1961121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:743837"} @@ -488897,7 +488989,7 @@ id: MONDO:0024290 name: enuresis def: "An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years)." [NCIT:C34588] subset: otar {source="MONDO:OTAR"} -synonym: "enuresis" EXACT [NCIT:C34588] +synonym: "enuresis" EXACT [icd11.foundation:1157749237, NCIT:C34588] xref: icd11.foundation:1157749237 {source="MONDO:equivalentTo"} xref: MEDGEN:8649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D004775 {source="MONDO:equivalentTo"} @@ -489003,7 +489095,7 @@ synonym: "vascular tissue neoplasm" EXACT [NCIT:C7388] synonym: "vascular tissue tumor" EXACT [NCIT:C7388] synonym: "vascular tissue tumour" EXACT OMO:0003005 [] synonym: "vascular tumor" EXACT [NCIT:C7388] -synonym: "vascular tumor, NOS" RELATED EXCLUDE [NCIT:C7388] +synonym: "vascular tumor, NOS" RELATED EXCLUDE [] synonym: "vascular tumors" EXACT [NCIT:C7388] synonym: "vascular tumour" EXACT OMO:0003005 [] synonym: "vascular tumours" EXACT OMO:0003005 [] @@ -489103,7 +489195,7 @@ id: MONDO:0024301 name: acquired mineral metabolism disease def: "An instance of mineral metabolism disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired mineral metabolism disease" EXACT [MONDO:patterns/acquired] -synonym: "mineral metabolism disease" RELATED [DOID:0050032] +synonym: "mineral metabolism disease" RELATED [] xref: DOID:0050032 {source="MONDO:equivalentTo"} is_a: MONDO:0006504 {source="DOID:0050032", source="MONDO:Entailed", source="MONDO:Redundant"} ! acquired metabolic disease intersection_of: MONDO:0000226 ! mineral metabolism disease @@ -489142,7 +489234,7 @@ subset: gard_rare {source="GARD:6752", source="MONDO:GARD"} subset: rare synonym: "common ichthyosis" RELATED [GARD:0006752] synonym: "fish scale disease" RELATED [GARD:0006752] -synonym: "ichthyosis vulgaris" EXACT [NCIT:C84778] +synonym: "ichthyosis vulgaris" EXACT [icd11.foundation:841161884, NCIT:C84778] xref: GARD:6752 {source="MONDO:GARD"} xref: icd11.foundation:841161884 {source="MONDO:equivalentTo"} xref: MEDGEN:38217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -489164,9 +489256,9 @@ name: acquired hyperprolactinemia def: "An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: otar {source="MONDO:OTAR"} synonym: "acquired hyperprolactinemia (disease)" EXACT [MONDO:patterns/acquired] -synonym: "Chiari-Frommel syndrome" RELATED [DOID:12700] -synonym: "hyperprolactinaemia" RELATED EXCLUDE [DOID:12700] -synonym: "hyperprolactinemia" RELATED [DOID:12700] +synonym: "Chiari-Frommel syndrome" RELATED [] +synonym: "hyperprolactinaemia" RELATED EXCLUDE [] +synonym: "hyperprolactinemia" RELATED [] synonym: "pregnancy-related A-G syndrome" EXACT [DOID:12700] xref: DOID:12700 {source="MONDO:equivalentTo"} xref: ICD10CM:E22.1 {source="DOID:12700", source="MONDO:relatedTo"} @@ -489182,7 +489274,7 @@ id: MONDO:0024306 name: acquired lactic acidosis def: "An instance of lactic acidosis that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] synonym: "acquired lactic acidosis" EXACT [MONDO:patterns/acquired] -synonym: "lactic acidosis" RELATED [DOID:3650] +synonym: "lactic acidosis" RELATED [] xref: DOID:3650 {source="EFO:1000036", source="MONDO:equivalentTo"} xref: ICD10CM:E87.2 {source="DOID:3650"} xref: MESH:D000140 {source="DOID:3650", source="MONDO:relatedTo"} @@ -489228,20 +489320,20 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15129", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "acroosteolysis, Giaccai type" RELATED [OMIM:201300] -synonym: "acroosteolysis, neurogenic" RELATED [OMIM:201300] -synonym: "hereditary sensory and autonomic neuropathy type 2A" RELATED [DOID:0070155] +synonym: "acroosteolysis, Giaccai type" RELATED [] +synonym: "acroosteolysis, neurogenic" RELATED [] +synonym: "hereditary sensory and autonomic neuropathy type 2A" RELATED [] synonym: "hereditary sensory and autonomic neuropathy type IIA" EXACT [DOID:0070155] synonym: "HSAN 2A" EXACT [OMIM:201300] synonym: "HSAN2A" EXACT ABBREVIATION [DOID:0070155, OMIM:201300] synonym: "HSN 2A" EXACT [OMIM:201300] -synonym: "Morvan disease" RELATED DUBIOUS [OMIM:201300, PMID:13235976] -synonym: "neuropathy, congenital sensory" RELATED [OMIM:201300] -synonym: "neuropathy, hereditary sensory and autonomic, type II" EXACT [OMIM:201300, OMIM:genemap2] -synonym: "neuropathy, hereditary sensory and autonomic, type IIA" EXACT [OMIM:201300] -synonym: "neuropathy, hereditary sensory radicular, autosomal recessive" RELATED [OMIM:201300] +synonym: "Morvan disease" RELATED DUBIOUS [PMID:13235976] +synonym: "neuropathy, congenital sensory" RELATED [] +synonym: "neuropathy, hereditary sensory and autonomic, type II" EXACT [] +synonym: "neuropathy, hereditary sensory and autonomic, type IIA" EXACT [] +synonym: "neuropathy, hereditary sensory radicular, autosomal recessive" RELATED [] synonym: "neuropathy, hereditary sensory, type 2A" EXACT [OMIM:201300] -synonym: "neuropathy, progressive sensory, of children" RELATED [OMIM:201300] +synonym: "neuropathy, progressive sensory, of children" RELATED [] xref: DOID:0070155 {source="MONDO:equivalentTo"} xref: GARD:15129 {source="MONDO:GARD"} xref: MEDGEN:416701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -489334,7 +489426,7 @@ name: parasitic endophthalmitis def: "Infection of the epicondyles by a parasite." [NCIT:C34587] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "parasitic endophthalmitis" EXACT [NCIT:C34587] +synonym: "parasitic endophthalmitis" EXACT [icd11.foundation:935014361, NCIT:C34587] xref: icd11.foundation:935014361 {source="MONDO:equivalentTo"} xref: ICD9:360.13 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:4954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -489397,7 +489489,7 @@ name: inner ear neoplasm def: "A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma." [NCIT:C39784] synonym: "inner Ear neoplasm" EXACT [NCIT:C39784] synonym: "internal Ear neoplasm" EXACT [NCIT:C39784] -synonym: "internal ear neoplasm" EXACT [] +synonym: "internal ear neoplasm" EXACT [NCIT:C39784] synonym: "internal ear neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "internal ear tumor" EXACT [MONDO:patterns/neoplasm] synonym: "internal ear tumour" EXACT OMO:0003005 [] @@ -489448,7 +489540,7 @@ name: glomangiomyoma def: "A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle." [NCIT:C4223] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glomangiomyoma" EXACT [NCIT:C4223] +synonym: "glomangiomyoma" EXACT [DOID:8020, NCIT:C4223] xref: DOID:8020 {source="MONDO:equivalentTo"} xref: ICDO:8713/0 {source="NCIT:C4223"} xref: MEDGEN:87240 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -489482,13 +489574,13 @@ def: "A rare benign neoplasm that arises from the mesothelial cells of the pleur subset: ordo_disorder {source="Orphanet:675814"} subset: orphanet_rare {source="Orphanet:675814"} subset: rare -synonym: "benign mesothelioma of pleura" EXACT [NCIT:C4499] -synonym: "benign mesothelioma of the pleura" EXACT [NCIT:C4499] +synonym: "benign mesothelioma of pleura" EXACT [] +synonym: "benign mesothelioma of the pleura" EXACT [] synonym: "pleura adenomatoid tumor" EXACT [MONDO:patterns/location] synonym: "pleura adenomatoid tumour" EXACT OMO:0003005 [] synonym: "pleural adenomatoid tumor" EXACT [NCIT:C4499] -synonym: "pleural benign mesothelioma" EXACT [NCIT:C4499] -synonym: "pleural mesothelioma, benign" EXACT [NCIT:C4499] +synonym: "pleural benign mesothelioma" EXACT [] +synonym: "pleural mesothelioma, benign" EXACT [] xref: MEDGEN:83408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4499 {source="MONDO:equivalentTo"} xref: Orphanet:675814 {source="MONDO:equivalentTo"} @@ -489507,7 +489599,7 @@ def: "Impairment of the renal function due to chronic kidney damage." [NCIT:C943 synonym: "chronic kidney failure" EXACT [] synonym: "Chronic renal disease" EXACT [NCIT:C9438] synonym: "chronic renal failure" EXACT [NCIT:C9438] -synonym: "chronic renal failure disease" EXACT [NCIT:C9438-modified] +synonym: "chronic renal failure disease" EXACT [] synonym: "CRF - chronic renal failure" EXACT [NCIT:C9438] synonym: "kidney failure, chronic" EXACT [MONDO:patterns/chronic] xref: ICD9:585.9 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -489530,7 +489622,7 @@ synonym: "acute otitis Media" EXACT [NCIT:C84354] synonym: "AOM" EXACT ABBREVIATION [NCIT:C84354] synonym: "infectious otitis Media" EXACT [NCIT:C84354] synonym: "middle Ear infection" EXACT [NCIT:C84354] -synonym: "otitis media" BROAD [NCIT:C84354] +synonym: "otitis media" BROAD [] xref: MEDGEN:443472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C84354 {source="MONDO:equivalentTo"} xref: UMLS:C2827407 {source="MEDGEN:443472", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -489544,24 +489636,24 @@ id: MONDO:0024331 name: colorectal carcinoma def: "A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." [NCIT:C2955] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of large bowel" BROAD [NCIT:C2955] -synonym: "cancer of large intestine" BROAD [NCIT:C2955] -synonym: "cancer of the large bowel" BROAD [NCIT:C2955] -synonym: "cancer of the large intestine" BROAD [NCIT:C2955] +synonym: "cancer of large bowel" BROAD [] +synonym: "cancer of large intestine" BROAD [] +synonym: "cancer of the large bowel" BROAD [] +synonym: "cancer of the large intestine" BROAD [] synonym: "carcinoma of colorectum" EXACT [MONDO:patterns/carcinoma] synonym: "carcinoma of large bowel" EXACT [NCIT:C2955] synonym: "carcinoma of large intestine" EXACT [NCIT:C2955] synonym: "carcinoma of the large bowel" EXACT [NCIT:C2955] synonym: "carcinoma of the large intestine" EXACT [NCIT:C2955] -synonym: "colorectal (colon or rectal) cancer" BROAD [NCIT:C2955] -synonym: "colorectal cancer" BROAD [NCIT:C2955] -synonym: "colorectal cancer, NOS" BROAD EXCLUDE [NCIT:C2955] -synonym: "colorectal carcinoma" EXACT [NCIT:C2955] +synonym: "colorectal (colon or rectal) cancer" BROAD [] +synonym: "colorectal cancer" BROAD [] +synonym: "colorectal cancer, NOS" BROAD EXCLUDE [] +synonym: "colorectal carcinoma" EXACT [DOID:0080199, NCIT:C2955] synonym: "colorectum carcinoma" EXACT [MONDO:patterns/location] synonym: "CRC" EXACT ABBREVIATION [NCIT:C2955] -synonym: "large bowel cancer" BROAD [NCIT:C2955] +synonym: "large bowel cancer" BROAD [] synonym: "large bowel carcinoma" EXACT [NCIT:C2955] -synonym: "large intestine cancer" BROAD [NCIT:C2955] +synonym: "large intestine cancer" BROAD [] synonym: "large intestine carcinoma" EXACT [NCIT:C2955] xref: DOID:0080199 {source="MONDO:equivalentTo"} xref: EFO:1001951 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -489579,8 +489671,8 @@ name: perennial allergic rhinitis def: "Allergic rhinitis caused by indoor allergens and lasting year round." [NCIT:C92189] subset: otar {source="MONDO:OTAR"} synonym: "non-seasonal allergic rhinitis" EXACT [NCIT:C92189] -synonym: "nonseasonal allergic rhinitis" EXACT [NCIT:C92189-variant] -synonym: "perennial allergic rhinitis" EXACT [NCIT:C92189] +synonym: "nonseasonal allergic rhinitis" EXACT [] +synonym: "perennial allergic rhinitis" EXACT [icd11.foundation:1273917262, NCIT:C92189] xref: EFO:1001417 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1273917262 {source="MONDO:equivalentTo"} xref: MEDGEN:19783 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -489639,11 +489731,11 @@ subset: gard_rare {source="GARD:22007", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:494454"} subset: rare -synonym: "adenocarcinoma of the vulva" EXACT [DOID:2098, NCIT:C6380] +synonym: "adenocarcinoma of the vulva" EXACT [NCIT:C6380, Orphanet:494454] synonym: "adenocarcinoma of vulva" EXACT [DOID:2098, NCIT:C6380] synonym: "mammalian vulva adenocarcinoma" EXACT [MONDO:patterns/location] -synonym: "vulva adenocarcinoma" EXACT [MONDO:0002208] -synonym: "vulvar adenocarcinoma" EXACT [NCIT:C6380] +synonym: "vulva adenocarcinoma" EXACT [DOID:2098, MONDO:0002208] +synonym: "vulvar adenocarcinoma" EXACT [NCIT:C6380, Orphanet:494454] xref: DOID:2098 {source="MONDO:equivalentTo"} xref: GARD:22007 {source="MONDO:GARD"} xref: MEDGEN:234480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -489786,7 +489878,7 @@ is_obsolete: true [Term] id: MONDO:0024346 name: pityriasis amiantacea -synonym: "pityriasis amiantacea" EXACT [] +synonym: "pityriasis amiantacea" EXACT [icd11.foundation:210953452] synonym: "tinea amiantacea" RELATED [] xref: icd11.foundation:210953452 {source="MONDO:equivalentTo"} xref: ICD9:696.5 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -489858,7 +489950,7 @@ synonym: "CMV pneumonia" EXACT [NCIT:C35360] synonym: "Cytomegaloviral pneumonia" EXACT [NCIT:C35360] synonym: "Cytomegalovirus caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Cytomegalovirus pneumonia" EXACT [NCIT:C35360] -synonym: "cytomegalovirus pneumonia" EXACT [] +synonym: "cytomegalovirus pneumonia" EXACT [NCIT:C35360] xref: MEDGEN:124443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35360 {source="MONDO:equivalentTo"} xref: SCTID:7678002 {source="MONDO:equivalentTo"} @@ -489895,7 +489987,7 @@ intersection_of: disease_has_location UBERON:0000065 ! respiratory tract [Term] id: MONDO:0024356 name: primary central sleep apnea syndrome -synonym: "primary central sleep apnea" EXACT [] +synonym: "primary central sleep apnea" EXACT [ICD10CM:G47.31] xref: ICD10CM:G47.31 {source="MONDO:equivalentTo"} xref: ICD9:327.21 {source="MONDO:equivalentTo", source="MONDO:i2s"} xref: MEDGEN:148385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -489922,7 +490014,7 @@ def: "A distinct form of sleep-disordered breathing characterized as central sle subset: otar {source="MONDO:OTAR"} synonym: "complex sleep apnea" EXACT [DOID:0080302, PMID:23861580] synonym: "CompSAS" EXACT [PMID:23861580] -synonym: "mixed sleep apnea" EXACT [] +synonym: "mixed sleep apnea" EXACT [DOID:0080302] xref: DOID:0080302 {source="MONDO:equivalentTo"} xref: MEDGEN:83271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:230493001 {source="MONDO:equivalentTo", source="DOID:0080302"} @@ -489995,7 +490087,7 @@ is_a: MONDO:0003406 ! sleep-wake disorder id: MONDO:0024377 name: circadian rhythm sleep disorder, delayed sleep phase type def: "A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle." [https://www.circadiansleepdisorders.org/defs.php#defDSPS] -synonym: "delayed sleep phase syndrome" EXACT [https://www.circadiansleepdisorders.org/defs.php#defDSPS] +synonym: "delayed sleep phase syndrome" EXACT [DOID:0111141, https://www.circadiansleepdisorders.org/defs.php#defDSPS, ICD10CM:G47.21] synonym: "DSPD" EXACT ABBREVIATION [DOID:0111141] synonym: "DSPS" EXACT ABBREVIATION [https://www.circadiansleepdisorders.org/defs.php#defDSPS] synonym: "sleep wake schedule disorder, delayed phase type" EXACT [] @@ -490017,7 +490109,7 @@ def: "A circadian sleep disorder characterized by bedtime and wake-up time much synonym: "advanced sleep phase syndrome" BROAD [https://www.circadiansleepdisorders.org/defs.php#defASPS] synonym: "ASPS" BROAD ABBREVIATION [https://www.circadiansleepdisorders.org/defs.php#defASPS] synonym: "circadian rhythm sleep disorder, advanced sleep phase" RELATED [] -synonym: "circadian rhythm sleep disorder, advanced sleep phase type" EXACT [] +synonym: "circadian rhythm sleep disorder, advanced sleep phase type" EXACT [ICD10CM:G47.22] synonym: "sleep-wake schedule disorder, advanced phase type" EXACT [] xref: ICD10CM:G47.22 {source="MONDO:equivalentTo"} xref: ICD9:327.32 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -490032,7 +490124,7 @@ id: MONDO:0024379 name: circadian rhythm sleep disorder, irregular sleep wake type def: "A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day." [https://www.circadiansleepdisorders.org/defs.php#defISWD] synonym: "irregular sleep-wake disorder" EXACT [https://www.circadiansleepdisorders.org/defs.php#defISWD] -synonym: "irregular sleep-wake pattern" EXACT [] +synonym: "irregular sleep-wake pattern" EXACT [ICD10CM:G47.23] synonym: "ISWD" EXACT ABBREVIATION [https://www.circadiansleepdisorders.org/defs.php#defISWD] xref: ICD10CM:G47.23 {source="MONDO:equivalentTo"} xref: ICD9:327.33 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -490101,9 +490193,9 @@ synonym: "benign Sex cord-stromal tumor of ovary" EXACT [NCIT:C6803] synonym: "benign Sex cord-stromal tumor of the ovary" EXACT [NCIT:C6803] synonym: "benign Sex cord-stromal tumour of ovary" EXACT OMO:0003005 [] synonym: "benign Sex cord-stromal tumour of the ovary" EXACT OMO:0003005 [] -synonym: "ovarian SEX cord-stromal tumor, benign" EXACT [NCIT:C6803] +synonym: "ovarian SEX cord-stromal tumor, benign" EXACT [] synonym: "ovarian sex cord-stromal tumor, benign" EXACT [MONDO:patterns/benign] -synonym: "Sex cord stromal tumor, benign" EXACT [NCIT:C6803] +synonym: "Sex cord stromal tumor, benign" EXACT [] xref: DOID:0080370 {source="MONDO:equivalentTo"} xref: MEDGEN:231435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C6803 {source="MONDO:equivalentTo"} @@ -490397,7 +490489,7 @@ synonym: "disorder of nerve plexus" EXACT [MONDO:patterns/location_top] synonym: "nerve plexus disease" EXACT [MONDO:patterns/location] synonym: "nerve plexus disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "nerve plexus disorder" EXACT [] -synonym: "plexopathy" EXACT [https://orcid.org/0000-0002-6601-2165] +synonym: "plexopathy" EXACT [DOID:3688, https://orcid.org/0000-0002-6601-2165, NCIT:C27744] xref: DOID:3688 {source="MONDO:equivalentTo"} xref: EFO:0009559 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:543047 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -490436,13 +490528,13 @@ def: "Any autosomal dominant Robinow syndrome in which the cause of the disease subset: gard_rare {source="GARD:2013", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "acral dysostosis with Facial and genital abnormalities" RELATED [OMIM:180700] +synonym: "acral dysostosis with Facial and genital abnormalities" RELATED [] synonym: "autosomal dominant Robinow syndrome caused by mutation in WNT5A" EXACT [MONDO:design_pattern] -synonym: "DRS1" EXACT ABBREVIATION [OMIM:180700] +synonym: "DRS1" EXACT ABBREVIATION [DOID:0060766, OMIM:180700] synonym: "dysostosis acral with facial and genital abnormalities" EXACT [MONDO:0023031] -synonym: "fetal face syndrome" RELATED [OMIM:180700] +synonym: "fetal face syndrome" RELATED [] synonym: "foetal face syndrome" RELATED OMO:0003005 [] -synonym: "Robinow dwarfism" RELATED [OMIM:180700] +synonym: "Robinow dwarfism" RELATED [] synonym: "Robinow syndrome, autosomal dominant 1" EXACT [OMIM:180700] synonym: "WNT5A autosomal dominant Robinow syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0060766 {source="MONDO:equivalentTo"} @@ -490471,20 +490563,20 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:2978", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anterior segment dysgenesis 3" EXACT [MESH:C535535, OMIM:601631] -synonym: "anterior segment dysgenesis 3, multiple subtypes" EXACT [OMIM:601631, OMIM:genemap2] +synonym: "anterior segment dysgenesis 3" EXACT [DOID:0080608, MESH:C535535, OMIM:601631] +synonym: "anterior segment dysgenesis 3, multiple subtypes" EXACT [] synonym: "ASGD3" EXACT ABBREVIATION [MESH:C535535, OMIM:601631] synonym: "FOXC1 iridogoniodysgenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "glaucoma iridogoniodysgenesia" RELATED [GARD:0002482] -synonym: "glaucoma iridogoniodysplasia, familial" RELATED [MESH:C535535, OMIM:601631] +synonym: "glaucoma iridogoniodysplasia, familial" RELATED [MESH:C535535] synonym: "IGDA" EXACT ABBREVIATION [MESH:C535535] synonym: "IGDA syndrome" EXACT [GARD:0002978] -synonym: "IRID1" EXACT ABBREVIATION [MESH:C535535, MONDO:Lexical, OMIM:601631] +synonym: "IRID1" EXACT ABBREVIATION [MESH:C535535, MONDO:Lexical] synonym: "iridogoniodysgenesis anomaly, autosomal dominant" EXACT [MESH:C535535, OMIM:601631] synonym: "iridogoniodysgenesis caused by mutation in FOXC1" EXACT [MONDO:design_pattern] synonym: "iridogoniodysgenesis type 1" EXACT [GARD:0002978] synonym: "iridogoniodysgenesis, type 1" EXACT [MESH:C535535, MONDO:Lexical, OMIM:601631] -synonym: "iris hypoplasia with glaucoma" RELATED [MESH:C535535, OMIM:601631] +synonym: "iris hypoplasia with glaucoma" RELATED [MESH:C535535] xref: DOID:0080608 {source="MONDO:equivalentTo"} xref: GARD:2978 {source="MONDO:GARD"} xref: MEDGEN:355748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -490514,25 +490606,27 @@ subset: orphanet_rare {source="Orphanet:35069"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Hunter Carpenter Macdonald syndrome" RELATED [GARD:0002751] -synonym: "Hunter-Carpenter-McDonald syndrome" RELATED DEPRECATED [Orphanet:2174] -synonym: "inaD" EXACT [OMIM:256600, Orphanet:35069] -synonym: "INAD1" RELATED ABBREVIATION [OMIM:256600, Orphanet:35069] -synonym: "infantile neuroaxonal dystrophy" EXACT [Orphanet:35069] +synonym: "Hunter-Carpenter-McDonald syndrome" RELATED DEPRECATED [] +synonym: "INAD" EXACT ABBREVIATION [Orphanet:35069] +synonym: "inaD" EXACT [] +synonym: "INAD1" RELATED ABBREVIATION [] +synonym: "infantile neuroaxonal dystrophy" EXACT [NCIT:C84927, Orphanet:35069] synonym: "infantile neuroaxonal dystrophy 1" EXACT [DOID:0110735] synonym: "infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy" RELATED [GARD:0003957] synonym: "KARAK syndrome, included" RELATED [GARD:0003957] -synonym: "NBIA2A" EXACT ABBREVIATION [DOID:0110735, OMIM:256600] +synonym: "NBIA2A" EXACT ABBREVIATION [OMIM:256600] +synonym: "NBIA2a" EXACT ABBREVIATION [DOID:0110735] synonym: "neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene" RELATED [GARD:0002751] -synonym: "neuroaxonal dystrophy, infantile" RELATED [OMIM:256600] -synonym: "neurodegeneration with brain iron accumulation 2A" EXACT [MONDO:Lexical, OMIM:256600] -synonym: "neurodegeneration with brain iron accumulation type 2A" EXACT [MONDORULE:4, OMIM:256600] -synonym: "neurodegeneration with brain iron accumulation type 2a" EXACT [DOID:0110735, MONDORULE:4] -synonym: "neurodegeneration, PLA2G6-associated" EXACT [OMIM:256600] -synonym: "neurodegeneration, Pla2G6-associated" EXACT [OMIM:256600] -synonym: "neurodegeneration, Pla2g6-associated" EXACT [DOID:0110735] +synonym: "neuroaxonal dystrophy, infantile" RELATED [] +synonym: "neurodegeneration with brain iron accumulation 2A" EXACT [DOID:0110735, MONDO:Lexical, OMIM:256600] +synonym: "neurodegeneration with brain iron accumulation type 2A" EXACT [MONDORULE:4] +synonym: "neurodegeneration with brain iron accumulation type 2a" EXACT [MONDORULE:4] +synonym: "neurodegeneration, PLA2G6-associated" EXACT [DOID:0110735, OMIM:256600] +synonym: "neurodegeneration, Pla2G6-associated" EXACT [DOID:0110735, OMIM:256600] +synonym: "neurodegeneration, Pla2g6-associated" EXACT [DOID:0110735, OMIM:256600] synonym: "phospholipase A2-associated neurodegeneration" EXACT [Orphanet:35069] synonym: "PLAN" EXACT ABBREVIATION [Orphanet:35069] -synonym: "Seitelberger disease" BROAD DEPRECATED [DOID:0110735, OMIM:256600, Orphanet:35069] +synonym: "Seitelberger disease" BROAD DEPRECATED [] xref: DOID:0110735 {source="MONDO:equivalentTo"} xref: GARD:3957 {source="MONDO:GARD"} xref: ICD10CM:G23.0 {source="Orphanet:35069/attributed", source="Orphanet:35069/ntbt", source="Orphanet:35069"} @@ -490629,15 +490723,15 @@ name: ovarian dysgenesis 1 subset: gard_rare {source="GARD:18039", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "gonadal dysgenesis, 20 type" RELATED [OMIM:233300] -synonym: "gonadal dysgenesis, XX type" RELATED [OMIM:233300] +synonym: "gonadal dysgenesis, 20 type" RELATED [] +synonym: "gonadal dysgenesis, XX type" RELATED [] synonym: "ODG1" EXACT ABBREVIATION [OMIM:233300] -synonym: "ovarian dysgenesis 1" EXACT [OMIM:233300] -synonym: "ovarian dysgenesis, hypergonadotropic, autosomal recessive" RELATED [OMIM:233300] -synonym: "ovarian dysgenesis, hypergonadotropic, with normal karyotype" RELATED [OMIM:233300] -synonym: "ovarian failure, hypergonadotropic" RELATED [OMIM:233300] -synonym: "XX gonadal dysgenesis" RELATED [OMIM:233300] -synonym: "XXGD" RELATED ABBREVIATION [OMIM:233300] +synonym: "ovarian dysgenesis 1" EXACT [DOID:0080493, OMIM:233300] +synonym: "ovarian dysgenesis, hypergonadotropic, autosomal recessive" RELATED [] +synonym: "ovarian dysgenesis, hypergonadotropic, with normal karyotype" RELATED [] +synonym: "ovarian failure, hypergonadotropic" RELATED [] +synonym: "XX gonadal dysgenesis" RELATED [] +synonym: "XXGD" RELATED ABBREVIATION [] xref: DOID:0080493 {source="MONDO:equivalentTo"} xref: GARD:18039 {source="MONDO:GARD"} xref: MEDGEN:215397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -490658,8 +490752,8 @@ subset: rare synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1" EXACT [MONDO:design_pattern] synonym: "CPHD1" EXACT ABBREVIATION [OMIM:613038] synonym: "pituitary hormone deficiency, combined 1" RELATED [GARD:0010601] -synonym: "pituitary hormone deficiency, combined or isolated, 1" EXACT [OMIM:613038, OMIM:genemap2] -synonym: "pituitary hormone deficiency, combined, 1" EXACT [OMIM:613038] +synonym: "pituitary hormone deficiency, combined or isolated, 1" EXACT [OMIM:613038] +synonym: "pituitary hormone deficiency, combined, 1" EXACT [] synonym: "POU1F1 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:10601 {source="MONDO:GARD"} xref: MEDGEN:414421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -490699,13 +490793,13 @@ name: facial paresis, hereditary congenital, 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "facial palsy, congenital, unilateral or bilateral" RELATED [OMIM:601471] +synonym: "facial palsy, congenital, unilateral or bilateral" RELATED [] synonym: "facial paresis, hereditary congenital, 1" EXACT [OMIM:601471] synonym: "HCFP1" EXACT ABBREVIATION [OMIM:601471] -synonym: "Mobius syndrome 2" RELATED [OMIM:601471] -synonym: "Mobius syndrome 2, formerly" RELATED [OMIM:601471] -synonym: "Moebius syndrome 2" RELATED [OMIM:601471] -synonym: "Moebius syndrome 2, formerly" RELATED [OMIM:601471] +synonym: "Mobius syndrome 2" RELATED [] +synonym: "Mobius syndrome 2, formerly" RELATED [] +synonym: "Moebius syndrome 2" RELATED [] +synonym: "Moebius syndrome 2, formerly" RELATED [] xref: MEDGEN:371292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601471 {source="MONDO:equivalentTo"} xref: Orphanet:306527 {source="OMIM:601471"} @@ -490821,20 +490915,20 @@ subset: ordo_disorder {source="Orphanet:101334", source="Orphanet:83313"} subset: ordo_etiological_subtype {source="Orphanet:101334"} subset: orphanet_rare {source="Orphanet:101334", source="Orphanet:83313"} subset: rare -synonym: "African tick typhus" EXACT [DOID:14095, PMID:18760001] -synonym: "boutonneuse disease" EXACT [DOID:14095, PMID:18760001] -synonym: "boutonneuse fever" EXACT [PMID:18760001] -synonym: "Conor and Bruch's disease" EXACT [DOID:14095, PMID:18760001] +synonym: "African tick typhus" EXACT [DOID:14095, icd11.foundation:1771381430, Orphanet:101334, PMID:18760001] +synonym: "boutonneuse disease" EXACT [PMID:18760001] +synonym: "boutonneuse fever" EXACT [DOID:14095, icd11.foundation:1771381430, Orphanet:83313, PMID:18760001] +synonym: "Conor and Bruch's disease" EXACT [PMID:18760001] synonym: "fievre boutonneuse" EXACT [PMID:18760001] -synonym: "Kenya fever" EXACT [DOID:14095, PMID:18760001] -synonym: "Kenya tick typhus" EXACT [DOID:14095, PMID:18760001] -synonym: "Kenyan tick typhus" EXACT [DOID:14095, PMID:18760001] +synonym: "Kenya fever" EXACT [PMID:18760001] +synonym: "Kenya tick typhus" EXACT [DOID:14095, icd11.foundation:1771381430, PMID:18760001] +synonym: "Kenyan tick typhus" EXACT [PMID:18760001] synonym: "marseilles fever" EXACT [DOID:14095, PMID:18760001] -synonym: "Mediterranean spotted fever" EXACT [DOID:14095, Orphanet:83313, PMID:18760001] -synonym: "Mediterranean tick fever" EXACT [DOID:14095, PMID:18760001] -synonym: "Rickettsia conorii spotted fever" BROAD [DOID:14095, PMID:18760001] +synonym: "Mediterranean spotted fever" EXACT [icd11.foundation:1771381430, Orphanet:83313, PMID:18760001] +synonym: "Mediterranean tick fever" EXACT [icd11.foundation:1771381430, PMID:18760001] +synonym: "Rickettsia conorii spotted fever" BROAD [PMID:18760001] synonym: "South African tick-bite fever" EXACT [DOID:14095] -synonym: "tick typhus due to rickettsia conorii" EXACT [PMID:18760001] +synonym: "tick typhus due to rickettsia conorii" EXACT [icd11.foundation:1771381430, PMID:18760001] xref: DOID:14095 {source="MONDO:equivalentTo", source="EFO:0007179"} xref: GARD:19031 {source="MONDO:GARD"} xref: ICD10CM:A77.1 {source="Orphanet:101334/ntbt", source="DOID:14095", source="Orphanet:101334", source="Orphanet:83313", source="Orphanet:83313/ntbt"} @@ -490890,8 +490984,8 @@ is_a: MONDO:0021074 {source="NCIT:C8366"} ! precancerous condition id: MONDO:0024475 name: squamous cell intraepithelial neoplasia subset: otar {source="MONDO:OTAR"} -synonym: "sil" BROAD [NCIT:C8334] -synonym: "SIN" BROAD ABBREVIATION [NCIT:C8334] +synonym: "sil" BROAD [] +synonym: "SIN" BROAD ABBREVIATION [] synonym: "squamous cell intraepithelial neoplasia" EXACT [NCIT:C8334] synonym: "squamous intraepithelial lesion" EXACT [NCIT:C8334] xref: MEDGEN:83092 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -490923,11 +491017,11 @@ id: MONDO:0024477 name: liver and intrahepatic bile duct neoplasm def: "A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma." [NCIT:C7103] subset: otar {source="MONDO:OTAR"} -synonym: "epithelial hepatic and intrahepatic bile duct neoplasm" EXACT [DOID:916] +synonym: "epithelial hepatic and intrahepatic bile duct neoplasm" EXACT [DOID:916, NCIT:C7106] synonym: "hepatic and intrahepatic bile duct neoplasm" EXACT [NCIT:C7103] synonym: "liver and intrahepatic bile duct epithelial neoplasm" EXACT [NCIT:C7106] synonym: "liver and intrahepatic bile duct neoplasm" EXACT [NCIT:C7103] -synonym: "liver neoplasm" EXACT [MONDO:0004721] +synonym: "liver neoplasm" EXACT [MONDO:0004721, NCIT:C7103] synonym: "liver neoplasm (disease)" EXACT [MONDO:patterns/location] synonym: "liver tumor" EXACT [MONDO:patterns/neoplasm] synonym: "liver tumour" EXACT OMO:0003005 [] @@ -491166,17 +491260,17 @@ name: glioma susceptibility 1 subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare -synonym: "astrocytoma" RELATED [OMIM:137800] -synonym: "ependymoma" RELATED [OMIM:137800] -synonym: "glioblastoma multiforme" RELATED [OMIM:137800] -synonym: "glioblastoma, somatic" EXACT [OMIM:137800, OMIM:genemap2] -synonym: "glioma of brain, familial" RELATED [OMIM:137800] +synonym: "astrocytoma" RELATED [] +synonym: "ependymoma" RELATED [] +synonym: "glioblastoma multiforme" RELATED [] +synonym: "glioblastoma, somatic" EXACT [] +synonym: "glioma of brain, familial" RELATED [] synonym: "glioma susceptibility 1" EXACT [OMIM:137800] -synonym: "glioma susceptibility 1, autosomal dominant, somatic mutation" EXACT [OMIM:137800, OMIM:genemap2] -synonym: "glioma, susceptibility to, somatic" EXACT [OMIM:137800, OMIM:genemap2] +synonym: "glioma susceptibility 1, autosomal dominant, somatic mutation" EXACT [] +synonym: "glioma, susceptibility to, somatic" EXACT [] synonym: "GLM1" EXACT ABBREVIATION [OMIM:137800] -synonym: "oligodendroglioma" RELATED [OMIM:137800] -synonym: "subependymoma" RELATED [OMIM:137800] +synonym: "oligodendroglioma" RELATED [] +synonym: "subependymoma" RELATED [] xref: MEDGEN:413414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:137800 {source="MONDO:equivalentTo"} xref: Orphanet:182067 {source="OMIM:137800"} @@ -491304,15 +491398,15 @@ synonym: "digestive system neuroendocrine tumor, well differentiated, low or int synonym: "digestive system neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "gastro-enteropancreatic neuroendocrine tumor" EXACT [MONDO:0023217] synonym: "gastro-enteropancreatic neuroendocrine tumour" EXACT OMO:0003005 [] -synonym: "gastroenteropancreatic endocrine tumor" EXACT [Orphanet:100092] +synonym: "gastroenteropancreatic endocrine tumor" EXACT [] synonym: "gastroenteropancreatic endocrine tumour" EXACT OMO:0003005 [] -synonym: "gastroenteropancreatic neuroendocrine neoplasm" EXACT [GARD:0002437, NCIT:C27721] +synonym: "gastroenteropancreatic neuroendocrine neoplasm" EXACT [GARD:0002437, NCIT:C27721, Orphanet:100092] synonym: "gastrointestinal neuroendocrine neoplasm" EXACT [NCIT:C27721] synonym: "gastrointestinal system neuroendocrine neoplasm" EXACT [NCIT:C27721] synonym: "GEP tumors" RELATED [GARD:0002437] synonym: "GEP tumours" RELATED OMO:0003005 [] -synonym: "GEP-NEN" RELATED [Orphanet:100092] -synonym: "GEP-NET" RELATED [Orphanet:100092] +synonym: "GEP-NEN" RELATED [] +synonym: "GEP-NET" RELATED [] synonym: "neuroendocrine neoplasm of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern, MONDO:patterns/neuroendocrine_neoplasm] synonym: "neuroendocrine neoplasm of digestive system" EXACT [MONDO:patterns/neuroendocrine_neoplasm] xref: GARD:2437 {source="MONDO:GARD"} @@ -491336,8 +491430,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:506090"} subset: orphanet_rare {source="Orphanet:506090"} subset: rare -synonym: "carcinoid neoplasm of pancreas" EXACT [NCIT:C4446] -synonym: "carcinoid neoplasm of the pancreas" EXACT [NCIT:C4446] +synonym: "carcinoid neoplasm of pancreas" EXACT [] +synonym: "carcinoid neoplasm of the pancreas" EXACT [] synonym: "carcinoid tumor of pancreas" EXACT [NCIT:C4446] synonym: "carcinoid tumor of the pancreas" EXACT [NCIT:C4446] synonym: "carcinoid tumour of pancreas" EXACT OMO:0003005 [] @@ -491351,10 +491445,10 @@ synonym: "pancreatic carcinoid tumour" EXACT OMO:0003005 [] synonym: "pancreatic serotonin producing neoplasm" EXACT [NCIT:C4446] synonym: "pancreatic serotonin producing tumor" EXACT [NCIT:C4446] synonym: "pancreatic serotonin producing tumour" EXACT OMO:0003005 [] -synonym: "serotonin-producing neuroendocrine tumor of pancreas" RELATED [Orphanet:506090] +synonym: "serotonin-producing neuroendocrine tumor of pancreas" RELATED [] synonym: "serotonin-producing neuroendocrine tumour of pancreas" RELATED OMO:0003005 [] synonym: "serotonin-producing pancreatic NET" EXACT [Orphanet:506090] -synonym: "serotonin-producing pancreatic neuroendocrine tumor" EXACT [Orphanet:506090] +synonym: "serotonin-producing pancreatic neuroendocrine tumor" EXACT [NCIT:C4446, Orphanet:506090] synonym: "serotonin-producing pancreatic neuroendocrine tumour" EXACT OMO:0003005 [] synonym: "serotonin-producing PNET" EXACT [Orphanet:506090] synonym: "serotonin-producing tumor of pancreas" EXACT [NCIT:C4446] @@ -491391,15 +491485,15 @@ def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "absence defect of limbs, scalp, and skull" RELATED [OMIM:100300] +synonym: "absence defect of limbs, scalp, and skull" RELATED [] synonym: "Adams-Oliver syndrome 1" EXACT [OMIM:100300] synonym: "Adams-Oliver syndrome caused by mutation in ARHGAP31" EXACT [MONDO:design_pattern] -synonym: "AOS" RELATED ABBREVIATION [OMIM:100300] +synonym: "AOS" RELATED ABBREVIATION [] synonym: "AOS1" EXACT ABBREVIATION [OMIM:100300] -synonym: "aplasia cutis congenita with terminal transverse limb defects" RELATED [OMIM:100300] -synonym: "aplasia cutis congenita, congenital heart defect, and frontonasal cysts" RELATED [OMIM:100300] +synonym: "aplasia cutis congenita with terminal transverse limb defects" RELATED [] +synonym: "aplasia cutis congenita, congenital heart defect, and frontonasal cysts" RELATED [] synonym: "ARHGAP31 Adams-Oliver syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "congenital scalp defects with distal limb reduction anomalies" RELATED [OMIM:100300] +synonym: "congenital scalp defects with distal limb reduction anomalies" RELATED [] xref: MEDGEN:1635567 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:100300 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="OMIM:100300"} @@ -491418,12 +491512,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AN1" EXACT ABBREVIATION [OMIM:106210] -synonym: "aniridia" BROAD [OMIM:106210, OMIM:genemap2] -synonym: "aniridia 1" EXACT CLINGEN_LABEL [OMIM:106210] -synonym: "aniridia II" RELATED [OMIM:106210] -synonym: "aniridia II, formerly" RELATED [OMIM:106210] -synonym: "cataract with late-onset corneal dystrophy" EXACT [OMIM:106210, OMIM:genemap2] -synonym: "cataract, congenital, with late-onset corneal dystrophy" RELATED [OMIM:106210] +synonym: "aniridia" BROAD [] +synonym: "aniridia 1" EXACT CLINGEN_LABEL [DOID:0070532, OMIM:106210] +synonym: "aniridia II" RELATED [] +synonym: "aniridia II, formerly" RELATED [] +synonym: "cataract with late-onset corneal dystrophy" EXACT [] +synonym: "cataract, congenital, with late-onset corneal dystrophy" RELATED [] xref: DOID:0070532 {source="MONDO:equivalentTo"} xref: MEDGEN:576337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:106210 {source="MONDO:equivalentTo"} @@ -491438,10 +491532,10 @@ id: MONDO:0024508 name: epilepsy, hot water, 1 subset: gard_rare {source="GARD:18286", source="MONDO:GARD"} subset: rare -synonym: "bathing epilepsy" RELATED [OMIM:613339] +synonym: "bathing epilepsy" RELATED [] synonym: "epilepsy, hot water, 1" EXACT [MONDO:Lexical, OMIM:613339] synonym: "HWE1" EXACT ABBREVIATION [OMIM:613339] -synonym: "water immersion epilepsy" RELATED [OMIM:613339] +synonym: "water immersion epilepsy" RELATED [] xref: DOID:0081106 {source="MONDO:equivalentTo"} xref: GARD:18286 {source="MONDO:GARD"} xref: MEDGEN:1636069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -491482,10 +491576,10 @@ name: SMARCB1-related schwannomatosis subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "neurilemmomatosis, congenital cutaneous" RELATED [OMIM:162091] -synonym: "schwannomatosis 1" EXACT [OMIM:162091] -synonym: "schwannomatosis, somatic" EXACT [OMIM:162091, OMIM:genemap2] -synonym: "schwannomatosis-1, susceptibility to" RELATED [OMIM:162091, OMIM:genemap2] +synonym: "neurilemmomatosis, congenital cutaneous" RELATED [] +synonym: "schwannomatosis 1" EXACT [DOID:0070480, OMIM:162091] +synonym: "schwannomatosis, somatic" EXACT [] +synonym: "schwannomatosis-1, susceptibility to" RELATED [] synonym: "SWNTS1" EXACT ABBREVIATION [OMIM:162091] xref: DOID:0070480 {source="MONDO:equivalentTo"} xref: MEDGEN:887689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -491518,10 +491612,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hereditary renal aplasia" RELATED [OMIM:191830] -synonym: "renal adysplasia" RELATED [OMIM:191830] -synonym: "renal agenesis" RELATED [OMIM:191830] -synonym: "renal aplasia" RELATED [OMIM:191830] +synonym: "hereditary renal aplasia" RELATED [] +synonym: "renal adysplasia" RELATED [] +synonym: "renal agenesis" RELATED [] +synonym: "renal aplasia" RELATED [] synonym: "renal dysplasia, megalocystis, and sirenomelia" RELATED [GARD:0004791] synonym: "renal hypodysplasia/aplasia 1" EXACT [OMIM:191830] synonym: "RHDA1" EXACT ABBREVIATION [OMIM:191830] @@ -491554,9 +491648,9 @@ subset: gard_rare {source="GARD:16491", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "AAA1" EXACT ABBREVIATION [OMIM:100070] -synonym: "abdominal aortic aneurysm" RELATED [OMIM:100070] -synonym: "aneurysm, abdominal aortic" RELATED [OMIM:100070] -synonym: "aortic aneurysm, familial abdominal 1" EXACT [OMIM:100070, OMIM:genemap2] +synonym: "abdominal aortic aneurysm" RELATED [] +synonym: "aneurysm, abdominal aortic" RELATED [] +synonym: "aortic aneurysm, familial abdominal 1" EXACT [] synonym: "aortic aneurysm, familial abdominal, 1" EXACT [OMIM:100070] xref: GARD:16491 {source="MONDO:GARD"} xref: MEDGEN:339961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -491573,14 +491667,14 @@ def: "Any primary cutaneous amyloidosis in which the cause of the disease is a m subset: gard_rare {source="GARD:18637", source="MONDO:GARD"} subset: rare synonym: "amyloidosis 9" EXACT [GARD:0000132, OMIM:105250] -synonym: "amyloidosis, familial cutaneous lichen" RELATED [OMIM:105250] +synonym: "amyloidosis, familial cutaneous lichen" RELATED [] synonym: "amyloidosis, primary cutaneous, 1" EXACT [OMIM:105250] synonym: "amyloidosis, primary localised cutaneous, type 1" EXACT OMO:0003005 [] synonym: "amyloidosis, primary localized cutaneous, 1" EXACT [MONDO:Lexical, OMIM:105250] -synonym: "amyloidosis, primary localized cutaneous, type 1" EXACT [MONDORULE:1, OMIM:105250] -synonym: "lichen amyloidosis, familial" RELATED [OMIM:105250] +synonym: "amyloidosis, primary localized cutaneous, type 1" EXACT [MONDORULE:1] +synonym: "lichen amyloidosis, familial" RELATED [] synonym: "OSMR primary cutaneous amyloidosis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PCA" RELATED ABBREVIATION [OMIM:105250] +synonym: "PCA" RELATED ABBREVIATION [] synonym: "PLCA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:105250] synonym: "primary cutaneous amyloidosis caused by mutation in OSMR" EXACT [MONDO:design_pattern] xref: DOID:0080930 {source="MONDO:equivalentTo"} @@ -491601,15 +491695,15 @@ def: "Any aortic valve disease in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:18470", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "aortic stenosis, calcific" RELATED [OMIM:109730] -synonym: "aortic valve disease" RELATED [OMIM:109730] -synonym: "aortic valve disease 1" EXACT [OMIM:109730] +synonym: "aortic stenosis, calcific" RELATED [] +synonym: "aortic valve disease" RELATED [] +synonym: "aortic valve disease 1" EXACT [DOID:0080333, OMIM:109730] synonym: "aortic valve disease caused by mutation in NOTCH1" EXACT [] synonym: "aortic valve disease caused by mutation in Notch1" EXACT [MONDO:design_pattern] -synonym: "aortic valve, bicuspid" RELATED [OMIM:109730] -synonym: "aortic valve, calcification of" RELATED [OMIM:109730] +synonym: "aortic valve, bicuspid" RELATED [] +synonym: "aortic valve, calcification of" RELATED [] synonym: "AOVD1" EXACT ABBREVIATION [OMIM:109730] -synonym: "bicuspid aortic valve" RELATED [OMIM:109730] +synonym: "bicuspid aortic valve" RELATED [] synonym: "NOTCH1 aortic valve disease" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Notch1 aortic valve disease" EXACT [MONDO:design_pattern] xref: DOID:0080333 {source="MONDO:equivalentTo"} @@ -491648,16 +491742,16 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult Fanconi syndrome" RELATED [OMIM:134600] -synonym: "DeToni-Debré-Fanconi syndrome" EXACT [Orphanet:3337] -synonym: "Fanconi renotubular syndrome" RELATED [OMIM:134600] -synonym: "Fanconi renotubular syndrome 1" EXACT [OMIM:134600] -synonym: "Fanconi syndrome without cystinosis" RELATED [OMIM:134600] +synonym: "adult Fanconi syndrome" RELATED [] +synonym: "DeToni-Debré-Fanconi syndrome" EXACT [] +synonym: "Fanconi renotubular syndrome" RELATED [] +synonym: "Fanconi renotubular syndrome 1" EXACT [DOID:0080757, OMIM:134600] +synonym: "Fanconi syndrome without cystinosis" RELATED [] synonym: "FRTS1" EXACT ABBREVIATION [OMIM:134600] -synonym: "Luder-Sheldon syndrome" RELATED [OMIM:134600] -synonym: "primary Fanconi renal syndrome" EXACT [Orphanet:3337] -synonym: "primary Fanconi renotubular syndrome" EXACT [Orphanet:3337] -synonym: "renal Fanconi syndrome" RELATED [OMIM:134600] +synonym: "Luder-Sheldon syndrome" RELATED [] +synonym: "primary Fanconi renal syndrome" EXACT [] +synonym: "primary Fanconi renotubular syndrome" EXACT [] +synonym: "renal Fanconi syndrome" RELATED [] xref: DOID:0080757 {source="MONDO:equivalentTo"} xref: MEDGEN:1635492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:134600 {source="MONDO:equivalentTo"} @@ -491675,10 +491769,10 @@ def: "Any Zimmermann-Laband syndrome in which the cause of the disease is a muta subset: gard_rare {source="GARD:15071", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:1344"} subset: rare -synonym: "fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly" RELATED [OMIM:135500] +synonym: "fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly" RELATED [] synonym: "KCNH1 Zimmermann-Laband syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Laband Syndrome" EXACT [NORD:1344] -synonym: "Laband syndrome" RELATED [OMIM:135500] +synonym: "Laband Syndrome" EXACT [NORD:1344, OMIM:135500] +synonym: "Laband syndrome" RELATED [] synonym: "Zimmermann-Laband syndrome 1" EXACT [OMIM:135500] synonym: "Zimmermann-Laband syndrome caused by mutation in KCNH1" EXACT [MONDO:design_pattern] synonym: "ZLS1" EXACT ABBREVIATION [OMIM:135500] @@ -491702,8 +491796,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GFND1" EXACT ABBREVIATION [OMIM:137950] synonym: "glomerulopathy with fibronectin deposits 1" EXACT [OMIM:137950] -synonym: "glomerulopathy with giant fibrillar deposits" RELATED [OMIM:137950] -synonym: "lobular glomerulopathy, familial" RELATED [OMIM:137950] +synonym: "glomerulopathy with giant fibrillar deposits" RELATED [] +synonym: "lobular glomerulopathy, familial" RELATED [] xref: GARD:9268 {source="MONDO:GARD"} xref: MEDGEN:98017 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:137950 {source="MONDO:equivalentTo"} @@ -491719,7 +491813,7 @@ subset: gard_rare {source="GARD:13174", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG" EXACT [MONDO:design_pattern] -synonym: "PEOA1" EXACT ABBREVIATION [OMIM:157640] +synonym: "PEOA1" EXACT ABBREVIATION [DOID:0111521, OMIM:157640] synonym: "POLG autosomal dominant progressive external ophthalmoplegia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1" EXACT [OMIM:157640] synonym: "progressive external ophthalmoplegia, autosomal dominant 1" EXACT [OMIM:157640] @@ -491741,17 +491835,17 @@ name: MVP1 subset: gard_rare {source="GARD:3688", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "barlow syndrome" RELATED [OMIM:157700] -synonym: "click-murmur syndrome" RELATED [OMIM:157700] -synonym: "floppy mitral valve" RELATED [OMIM:157700] -synonym: "mitral regurgitation, familial" RELATED [OMIM:157700] -synonym: "mitral valve prolapse 1" RELATED [OMIM:157700] -synonym: "mitral valve prolapse, familial" RELATED [OMIM:157700] +synonym: "barlow syndrome" RELATED [] +synonym: "click-murmur syndrome" RELATED [] +synonym: "floppy mitral valve" RELATED [] +synonym: "mitral regurgitation, familial" RELATED [] +synonym: "mitral valve prolapse 1" RELATED [] +synonym: "mitral valve prolapse, familial" RELATED [] synonym: "mitral valve prolapse, familial, X-linked" RELATED [GARD:0003688] -synonym: "mitral valve prolapse, myxomatous 1" RELATED [OMIM:157700] +synonym: "mitral valve prolapse, myxomatous 1" RELATED [] synonym: "MVP1" EXACT ABBREVIATION [OMIM:157700] -synonym: "myxomatous mitral valve prolapse 1" RELATED [OMIM:157700] -synonym: "myxomatous valvular disease, familial" RELATED [OMIM:157700] +synonym: "myxomatous mitral valve prolapse 1" RELATED [] +synonym: "myxomatous valvular disease, familial" RELATED [] synonym: "PMV" RELATED ABBREVIATION [GARD:0003688] synonym: "prolapsed mitral valve" RELATED [GARD:0003688] xref: GARD:3688 {source="MONDO:GARD"} @@ -491766,11 +491860,11 @@ id: MONDO:0024530 name: Bethlem myopathy 1A subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Bethlem myopathy" RELATED [OMIM:158810] -synonym: "Bethlem myopathy 1" BROAD [OMIM:158810] -synonym: "BTHLM1" RELATED ABBREVIATION [OMIM:158810] -synonym: "muscular dystrophy, benign congenital" RELATED [OMIM:158810] -synonym: "myopathy, benign congenital, with contractures" RELATED [OMIM:158810] +synonym: "Bethlem myopathy" RELATED [] +synonym: "Bethlem myopathy 1" BROAD [] +synonym: "BTHLM1" RELATED ABBREVIATION [] +synonym: "muscular dystrophy, benign congenital" RELATED [] +synonym: "myopathy, benign congenital, with contractures" RELATED [] xref: OMIM:158810 {source="MONDO:equivalentTo"} xref: Orphanet:610 {source="OMIM:158810"} is_a: MONDO:0008029 {source="OMIM:158810"} ! Bethlem myopathy @@ -491783,11 +491877,11 @@ name: myopathy, tubular aggregate, 1 def: "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "myopathy, tubular aggregate" RELATED [OMIM:160565] +synonym: "myopathy, tubular aggregate" RELATED [] synonym: "myopathy, tubular aggregate, 1" EXACT [OMIM:160565] synonym: "STIM1 tubular aggregate myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "TAM1" RELATED ABBREVIATION [OMIM:160565] -synonym: "tubular aggregate myopathy" RELATED [OMIM:160565] +synonym: "TAM1" RELATED ABBREVIATION [] +synonym: "tubular aggregate myopathy" RELATED [] synonym: "tubular aggregate myopathy caused by mutation in STIM1" EXACT [MONDO:design_pattern] xref: MEDGEN:860163 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:160565 {source="MONDO:equivalentTo"} @@ -491806,10 +491900,10 @@ subset: gard_rare {source="GARD:16502", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "EYA1 otofaciocervical syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "OFC" BROAD ABBREVIATION [OMIM:166780] -synonym: "OFC1" RELATED ABBREVIATION [OMIM:166780] -synonym: "OTFCS" BROAD ABBREVIATION [OMIM:166780] -synonym: "otofaciocervical syndrome" BROAD [OMIM:166780, OMIM:genemap2] +synonym: "OFC" BROAD ABBREVIATION [] +synonym: "OFC1" RELATED ABBREVIATION [] +synonym: "OTFCS" BROAD ABBREVIATION [] +synonym: "otofaciocervical syndrome" BROAD [] synonym: "otofaciocervical syndrome 1" EXACT [OMIM:166780] synonym: "otofaciocervical syndrome caused by mutation in EYA1" EXACT [MONDO:design_pattern] xref: GARD:16502 {source="MONDO:GARD"} @@ -491831,17 +491925,17 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "BMPR2 primary pulmonary hypertension" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PHT" RELATED ABBREVIATION [OMIM:178600] -synonym: "PPH1" RELATED ABBREVIATION [OMIM:178600] -synonym: "Pph1 with Hht" RELATED [OMIM:178600] +synonym: "PHT" RELATED ABBREVIATION [] +synonym: "PPH1" RELATED ABBREVIATION [] +synonym: "Pph1 with Hht" RELATED [] synonym: "primary pulmonary hypertension caused by mutation in BMPR2" EXACT [MONDO:design_pattern] -synonym: "pulmonary arterial hypertension" RELATED [OMIM:178600] -synonym: "pulmonary hypertension, familial primary, 1, with or without HHT" EXACT [OMIM:178600, OMIM:genemap2] +synonym: "pulmonary arterial hypertension" RELATED [] +synonym: "pulmonary hypertension, familial primary, 1, with or without HHT" EXACT [] synonym: "pulmonary hypertension, primary, 1" EXACT CLINGEN_LABEL [OMIM:178600] -synonym: "pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia" RELATED [OMIM:178600] -synonym: "pulmonary hypertension, primary, Dexfenfluramine-associated" RELATED [OMIM:178600] -synonym: "pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated" EXACT [OMIM:178600, OMIM:genemap2] -synonym: "pulmonary hypertension, primary, Fenfluramine-associated" RELATED [OMIM:178600] +synonym: "pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia" RELATED [] +synonym: "pulmonary hypertension, primary, Dexfenfluramine-associated" RELATED [] +synonym: "pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated" EXACT [] +synonym: "pulmonary hypertension, primary, Fenfluramine-associated" RELATED [] xref: MEDGEN:1643124 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:178600 {source="MONDO:equivalentTo"} xref: Orphanet:422 {source="OMIM:178600"} @@ -491859,12 +491953,12 @@ def: "Any Dowling-Degos disease in which the cause of the disease is a mutation subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DDD" RELATED ABBREVIATION [OMIM:179850] -synonym: "DDD1" RELATED ABBREVIATION [OMIM:179850] +synonym: "DDD" RELATED ABBREVIATION [] +synonym: "DDD1" RELATED ABBREVIATION [] synonym: "Dowling-Degos disease 1" EXACT [OMIM:179850] synonym: "Dowling-Degos disease caused by mutation in KRT5" EXACT [MONDO:design_pattern] synonym: "KRT5 Dowling-Degos disease" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "reticular pigment anomaly of flexures" RELATED [OMIM:179850] +synonym: "reticular pigment anomaly of flexures" RELATED [] xref: MEDGEN:1645697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:179850 {source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="OMIM:179850"} @@ -491883,9 +491977,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "IFIH1 singleton-Merten dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "SGMRT1" RELATED ABBREVIATION [OMIM:182250] +synonym: "SGMRT1" RELATED ABBREVIATION [] synonym: "singleton-Merten dysplasia caused by mutation in IFIH1" EXACT [MONDO:design_pattern] -synonym: "singleton-Merten syndrome 1" RELATED [OMIM:182250] +synonym: "singleton-Merten syndrome 1" RELATED [] xref: MEDGEN:899946 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:182250 {source="MONDO:equivalentTo"} xref: Orphanet:85191 {source="OMIM:182250"} @@ -491906,13 +492000,13 @@ def: "Any familial glucocorticoid deficiency in which the cause of the disease i subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ACTH resistance" RELATED [OMIM:202200] -synonym: "adrenal unresponsiveness to ACTH" RELATED [OMIM:202200] -synonym: "familial glucocorticoid deficiency 1" RELATED [OMIM:202200] +synonym: "ACTH resistance" RELATED [] +synonym: "adrenal unresponsiveness to ACTH" RELATED [] +synonym: "familial glucocorticoid deficiency 1" RELATED [] synonym: "familial glucocorticoid deficiency caused by mutation in MC2R" EXACT [MONDO:design_pattern] -synonym: "GCCD1" RELATED ABBREVIATION [OMIM:202200] -synonym: "glucocorticoid deficiency 1" EXACT CLINGEN_LABEL [OMIM:202200] -synonym: "glucocorticoid deficiency, due to ACTH unresponsiveness" EXACT [OMIM:202200, OMIM:genemap2] +synonym: "GCCD1" RELATED ABBREVIATION [] +synonym: "glucocorticoid deficiency 1" EXACT CLINGEN_LABEL [DOID:0080621, OMIM:202200] +synonym: "glucocorticoid deficiency, due to ACTH unresponsiveness" EXACT [] synonym: "MC2R familial glucocorticoid deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080621 {source="MONDO:equivalentTo"} xref: MEDGEN:885551 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -491935,15 +492029,15 @@ subset: gard_rare {source="GARD:18010", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:572543"} subset: rare -synonym: "Brown-Vialetto-Van Laere syndrome 1" EXACT [OMIM:211530] -synonym: "Brown-Vialetto-van Laere syndrome 1" EXACT CLINGEN_LABEL [] +synonym: "Brown-Vialetto-Van Laere syndrome 1" EXACT [DOID:0080785, NCIT:C133724, OMIM:211530] +synonym: "Brown-Vialetto-van Laere syndrome 1" EXACT CLINGEN_LABEL [DOID:0080785, NCIT:C133724, OMIM:211530] synonym: "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3" EXACT [MONDO:design_pattern] -synonym: "bulbar palsy, progressive, with sensorineural deafness" RELATED [OMIM:211530] -synonym: "BVVLS1" RELATED ABBREVIATION [OMIM:211530] -synonym: "pontobulbar palsy with deafness" RELATED [OMIM:211530] +synonym: "bulbar palsy, progressive, with sensorineural deafness" RELATED [] +synonym: "BVVLS1" RELATED ABBREVIATION [] +synonym: "pontobulbar palsy with deafness" RELATED [] synonym: "rfvt2-related riboflavin transporter deficiency" EXACT [Orphanet:572543] synonym: "Riboflavin transporter deficiency 2" EXACT [Orphanet:572543] -synonym: "RTD2" EXACT [Orphanet:572543] +synonym: "RTD2" EXACT ABBREVIATION [Orphanet:572543] synonym: "SLC52A3 Brown-Vialetto-van Laere syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0080785 {source="MONDO:equivalentTo"} xref: GARD:18010 {source="MONDO:GARD"} @@ -491966,19 +492060,19 @@ name: basal ganglia calcification, idiopathic, 1 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "basal ganglia calcification, idiopathic, 1" EXACT [OMIM:213600] -synonym: "basal ganglia calcification, idiopathic, 2" EXACT [MONDO:0011692, MONDO:Lexical, OMIM:606656] -synonym: "basal ganglia calcification, idiopathic, 3" RELATED [OMIM:213600] -synonym: "basal ganglia calcification, idiopathic, 3, formerly" RELATED [OMIM:213600] -synonym: "basal ganglia calcification, idiopathic, type 1" EXACT [OMIM:213600] -synonym: "cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset" RELATED [OMIM:213600] -synonym: "Fahr disease, familial" RELATED [OMIM:213600] -synonym: "Fahr disease, familial, formerly" RELATED [OMIM:213600] -synonym: "ferrocalcinosis, cerebrovascular" RELATED [OMIM:213600] -synonym: "IBGC1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:213600] -synonym: "IBGC2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606656] +synonym: "basal ganglia calcification, idiopathic, 2" EXACT [MONDO:0011692, MONDO:Lexical] +synonym: "basal ganglia calcification, idiopathic, 3" RELATED [] +synonym: "basal ganglia calcification, idiopathic, 3, formerly" RELATED [] +synonym: "basal ganglia calcification, idiopathic, type 1" EXACT [] +synonym: "cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset" RELATED [] +synonym: "Fahr disease, familial" RELATED [] +synonym: "Fahr disease, familial, formerly" RELATED [] +synonym: "ferrocalcinosis, cerebrovascular" RELATED [] +synonym: "IBGC1" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C129973, OMIM:213600] +synonym: "IBGC2" EXACT ABBREVIATION [MONDO:Lexical] synonym: "idiopathic basal ganglia calcification 1" EXACT [NCIT:C129973] -synonym: "striopallidodentate calcinosis, autosomal dominant, adult-onset" RELATED [OMIM:213600] -synonym: "striopallidodentate calcinosis, bilateral" RELATED [OMIM:213600] +synonym: "striopallidodentate calcinosis, autosomal dominant, adult-onset" RELATED [] +synonym: "striopallidodentate calcinosis, bilateral" RELATED [] xref: MEDGEN:1637664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537657 {source="MONDO:equivalentTo"} xref: NANDO:1200208 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -492001,12 +492095,12 @@ def: "Any central areolar choroidal dystrophy in which the cause of the disease subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CACD1" RELATED ABBREVIATION [OMIM:215500] +synonym: "CACD1" RELATED ABBREVIATION [] synonym: "central areolar choroidal dystrophy caused by mutation in GUCY2D" EXACT [MONDO:design_pattern] -synonym: "choroidal dystrophy, central areolar" RELATED [OMIM:215500] -synonym: "choroidal dystrophy, central areolar 1" EXACT [OMIM:215500, OMIM:genemap2] +synonym: "choroidal dystrophy, central areolar" RELATED [] +synonym: "choroidal dystrophy, central areolar 1" EXACT [] synonym: "choroidal dystrophy, central areolar, 1" EXACT [OMIM:215500] -synonym: "choroidal sclerosis" RELATED [OMIM:215500] +synonym: "choroidal sclerosis" RELATED [] synonym: "GUCY2D central areolar choroidal dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:1639900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:215500 {source="MONDO:equivalentTo"} @@ -492026,15 +492120,15 @@ name: Jervell and Lange-Nielsen syndrome 1 def: "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" RELATED [OMIM:220400] -synonym: "deafness, congenital, and functional heart disease" RELATED [OMIM:220400] -synonym: "Jervell and Lange-Nielsen syndrome" BROAD [OMIM:220400, OMIM:genemap2] +synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" RELATED [] +synonym: "deafness, congenital, and functional heart disease" RELATED [] +synonym: "Jervell and Lange-Nielsen syndrome" BROAD [] synonym: "Jervell and Lange-Nielsen syndrome 1" EXACT [OMIM:220400] synonym: "Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1" EXACT [MONDO:design_pattern] -synonym: "JLNS1" RELATED ABBREVIATION [OMIM:220400] +synonym: "JLNS1" RELATED ABBREVIATION [] synonym: "KCNQ1 Jervell and Lange-Nielsen syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "prolonged QT interval in Ekg and sudden death" RELATED [OMIM:220400] -synonym: "Surdo-Cardiac syndrome" RELATED [OMIM:220400] +synonym: "prolonged QT interval in Ekg and sudden death" RELATED [] +synonym: "Surdo-Cardiac syndrome" RELATED [] xref: MEDGEN:1646925 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:220400 {source="MONDO:equivalentTo"} xref: Orphanet:768 {source="OMIM:220400"} @@ -492053,13 +492147,13 @@ def: "Any tricho-hepato-enteric syndrome in which the cause of the disease is a subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "diarrhea, fatal infantile, with trichorrhexis nodosa" RELATED [OMIM:222470] -synonym: "diarrhea, syndromic" RELATED [OMIM:222470] -synonym: "The syndrome" RELATED [OMIM:222470] -synonym: "THES1" RELATED ABBREVIATION [OMIM:222470] +synonym: "diarrhea, fatal infantile, with trichorrhexis nodosa" RELATED [] +synonym: "diarrhea, syndromic" RELATED [] +synonym: "The syndrome" RELATED [] +synonym: "THES1" RELATED ABBREVIATION [] synonym: "tricho-hepato-enteric syndrome caused by mutation in TTC37" EXACT [MONDO:design_pattern] -synonym: "TRICHOHEPATOENTERIC syndrome 1" EXACT [MONDO:Lexical, OMIM:222470] -synonym: "trichohepatoenteric syndrome 1" EXACT CLINGEN_LABEL [] +synonym: "TRICHOHEPATOENTERIC syndrome 1" EXACT [DOID:0111415, MONDO:Lexical, OMIM:222470] +synonym: "trichohepatoenteric syndrome 1" EXACT CLINGEN_LABEL [DOID:0111415, OMIM:222470] synonym: "TTC37 tricho-hepato-enteric syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111415 {source="MONDO:equivalentTo"} xref: MEDGEN:1644087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -492079,18 +492173,18 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CAMRQ1" RELATED DEPRECATED [MONDO:Lexical, OMIM:224050] -synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1" RELATED [OMIM:224050] -synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" RELATED DEPRECATED [OMIM:224050] -synonym: "cerebellar ataxia, congenital, and intellectual disability, autosomal recessive" RELATED [OMIM:224050] -synonym: "cerebellar ataxia, congenital, and mental retardation, autosomal recessive" RELATED DEPRECATED [OMIM:224050] -synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1" EXACT CLINGEN_LABEL [OMIM:224050] -synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1" EXACT [MONDORULE:1, OMIM:224050] -synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" RELATED DEPRECATED [OMIM:224050] -synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1" EXACT DEPRECATED [MONDORULE:1, OMIM:224050] -synonym: "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1" EXACT [OMIM:224050, OMIM:genemap2] -synonym: "cerebellar hypoplasia, VLDLR-associated" RELATED [OMIM:224050] -synonym: "dysequilibrium syndrome" RELATED [OMIM:224050] +synonym: "CAMRQ1" RELATED DEPRECATED [MONDO:Lexical] +synonym: "cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1" RELATED [] +synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" RELATED DEPRECATED [] +synonym: "cerebellar ataxia, congenital, and intellectual disability, autosomal recessive" RELATED [] +synonym: "cerebellar ataxia, congenital, and mental retardation, autosomal recessive" RELATED DEPRECATED [] +synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1" EXACT CLINGEN_LABEL [] +synonym: "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1" EXACT [MONDORULE:1] +synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" RELATED DEPRECATED [] +synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1" EXACT DEPRECATED [MONDORULE:1] +synonym: "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1" EXACT [] +synonym: "cerebellar hypoplasia, VLDLR-associated" RELATED [] +synonym: "dysequilibrium syndrome" RELATED [] synonym: "dysequilibrium syndrome caused by mutation in VLDLR" EXACT [MONDO:design_pattern] synonym: "VLDLR dysequilibrium syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0070556 {source="MONDO:equivalentTo"} @@ -492112,14 +492206,14 @@ def: "Any brittle cornea syndrome in which the cause of the disease is a mutatio subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BCS1" RELATED ABBREVIATION [OMIM:229200] +synonym: "BCS1" RELATED ABBREVIATION [] synonym: "brittle cornea syndrome 1" EXACT [OMIM:229200] synonym: "brittle cornea syndrome caused by mutation in ZNF469" EXACT [MONDO:design_pattern] -synonym: "corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility" RELATED [OMIM:229200] -synonym: "dysgenesis Mesodermalis corneae Et sclerae" RELATED [OMIM:229200] -synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [OMIM:229200] -synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:229200] -synonym: "Fragilitas oculi with Joint hyperextensibility" RELATED [OMIM:229200] +synonym: "corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility" RELATED [] +synonym: "dysgenesis Mesodermalis corneae Et sclerae" RELATED [] +synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [] +synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [] +synonym: "Fragilitas oculi with Joint hyperextensibility" RELATED [] synonym: "ZNF469 brittle cornea syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:78661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536192 {source="MONDO:equivalentTo"} @@ -492136,10 +492230,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0024544 name: obsolete Heimler syndrome 1 -synonym: "hearing loss, sensorineural, with enamel hypoplasia and nail defects" RELATED [OMIM:234580] -synonym: "HEIMLER syndrome 1" RELATED [OMIM:234580] -synonym: "HMLR1" RELATED ABBREVIATION [OMIM:234580] -synonym: "peroxisome biogenesis disorder 1C" RELATED [OMIM:234580] +synonym: "hearing loss, sensorineural, with enamel hypoplasia and nail defects" RELATED [] +synonym: "HEIMLER syndrome 1" RELATED [] +synonym: "HMLR1" RELATED ABBREVIATION [] +synonym: "peroxisome biogenesis disorder 1C" RELATED [] xref: DOID:0080623 {source="MONDO:obsoleteEquivalent"} xref: OMIM:234580 {source="MONDO:obsoleteEquivalent"} xref: Orphanet:3220 {source="OMIM:234580"} @@ -492155,11 +492249,11 @@ def: "Any Miyoshi myopathy in which the cause of the disease is a mutation in th subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "DYSF Miyoshi myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "MIYOSHI muscular dystrophy 1" RELATED [OMIM:254130] -synonym: "Miyoshi myopathy" RELATED [OMIM:254130] +synonym: "MIYOSHI muscular dystrophy 1" RELATED [] +synonym: "Miyoshi myopathy" RELATED [] synonym: "Miyoshi myopathy caused by mutation in DYSF" EXACT [MONDO:design_pattern] -synonym: "MMD1" RELATED ABBREVIATION [OMIM:254130] -synonym: "muscular dystrophy, distal, late-onset, autosomal recessive" RELATED [OMIM:254130] +synonym: "MMD1" RELATED ABBREVIATION [] +synonym: "muscular dystrophy, distal, late-onset, autosomal recessive" RELATED [] xref: DOID:0070199 {source="MONDO:equivalentTo"} xref: MEDGEN:1640757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:254130 {source="MONDO:equivalentTo"} @@ -492181,18 +492275,18 @@ subset: gard_rare {source="GARD:15216", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cranioosteoarthropathy" RELATED [OMIM:259100] -synonym: "Currarino idiopathic osteoarthropathy" RELATED [OMIM:259100] -synonym: "familial idiopathic osteoarthropathy of childhood" RELATED [OMIM:259100] +synonym: "Cranioosteoarthropathy" RELATED [] +synonym: "Currarino idiopathic osteoarthropathy" RELATED [] +synonym: "familial idiopathic osteoarthropathy of childhood" RELATED [] synonym: "HPGD primary hypertrophic osteoarthropathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive 1" EXACT [OMIM:259100, OMIM:genemap2] +synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive 1" EXACT [] synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" EXACT CLINGEN_LABEL [OMIM:259100] -synonym: "pachydermoperiostosis, autosomal recessive" RELATED [OMIM:259100] -synonym: "PDP, autosomal recessive" RELATED [OMIM:259100] -synonym: "Pho, autosomal recessive" RELATED [OMIM:259100] -synonym: "PHOAR1" RELATED ABBREVIATION [OMIM:259100] +synonym: "pachydermoperiostosis, autosomal recessive" RELATED [] +synonym: "PDP, autosomal recessive" RELATED [] +synonym: "Pho, autosomal recessive" RELATED [] +synonym: "PHOAR1" RELATED ABBREVIATION [] synonym: "primary hypertrophic osteoarthropathy caused by mutation in HPGD" EXACT [MONDO:design_pattern] -synonym: "Touraine-Solente-Gole syndrome" RELATED [OMIM:259100] +synonym: "Touraine-Solente-Gole syndrome" RELATED [] xref: GARD:15216 {source="MONDO:GARD"} xref: MEDGEN:1641972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:259100 {source="MONDO:equivalentTo"} @@ -492214,11 +492308,11 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:15220", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Pagen" RELATED [OMIM:260370] -synonym: "PAGEN1" RELATED ABBREVIATION [OMIM:260370] +synonym: "Pagen" RELATED [] +synonym: "PAGEN1" RELATED ABBREVIATION [] synonym: "pancreatic agenesis 1" EXACT CLINGEN_LABEL [OMIM:260370] synonym: "pancreatic agenesis caused by mutation in PDX1" EXACT [MONDO:design_pattern] -synonym: "pancreatic hypoplasia, congenital" RELATED [OMIM:260370] +synonym: "pancreatic hypoplasia, congenital" RELATED [] synonym: "PDX1 pancreatic agenesis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:15220 {source="MONDO:GARD"} xref: MEDGEN:856095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -492241,21 +492335,21 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:263553"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CDSN peeling skin syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "deciduous skin" RELATED [OMIM:270300] +synonym: "deciduous skin" RELATED [] synonym: "generalised deciduous skin type B" EXACT OMO:0003005 [] synonym: "generalised peeling skin syndrome type B" EXACT OMO:0003005 [] -synonym: "generalized deciduous skin type B" EXACT [Orphanet:263553] +synonym: "generalized deciduous skin type B" EXACT [] synonym: "generalized peeling skin syndrome type B" EXACT [Orphanet:263553] -synonym: "inflammatory peeling skin syndrome" EXACT [Orphanet:263553] -synonym: "keratolysis exfoliativa congenita" RELATED [OMIM:270300] -synonym: "peeling skin syndrome 1" EXACT [OMIM:270300] +synonym: "inflammatory peeling skin syndrome" EXACT [DOID:0070520, Orphanet:263553] +synonym: "keratolysis exfoliativa congenita" RELATED [] +synonym: "peeling skin syndrome 1" EXACT [DOID:0070520, OMIM:270300, Orphanet:263553] synonym: "peeling skin syndrome caused by mutation in CDSN" EXACT [MONDO:design_pattern] -synonym: "peeling skin syndrome type B" EXACT [MONDO:0016992] -synonym: "PSS" RELATED ABBREVIATION [OMIM:270300] +synonym: "peeling skin syndrome type B" EXACT [DOID:0070520, MONDO:0016992, Orphanet:263553] +synonym: "PSS" RELATED ABBREVIATION [] synonym: "PSS type B" EXACT [Orphanet:263553] -synonym: "PSS1" RELATED ABBREVIATION [OMIM:270300] +synonym: "PSS1" RELATED ABBREVIATION [] synonym: "skin peeling, familial continuous generalised" RELATED OMO:0003005 [] -synonym: "skin peeling, familial continuous generalized" RELATED [OMIM:270300] +synonym: "skin peeling, familial continuous generalized" RELATED [] xref: DOID:0070520 {source="MONDO:equivalentTo"} xref: GARD:17259 {source="MONDO:GARD"} xref: ICD10CM:Q80.8 {source="Orphanet:263553", source="Orphanet:263553/attributed", source="Orphanet:263553/ntbt"} @@ -492277,8 +492371,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "MCOPCB1" EXACT ABBREVIATION [OMIM:300345] -synonym: "microphthalmia, colobomatous, isolated 1" RELATED [OMIM:300345] -synonym: "microphthalmia, isolated, with coloboma 1" RELATED [OMIM:300345] +synonym: "microphthalmia, colobomatous, isolated 1" RELATED [] +synonym: "microphthalmia, isolated, with coloboma 1" RELATED [] xref: MEDGEN:337338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300345 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="OMIM:300345"} @@ -492293,10 +492387,10 @@ subset: gard_rare {source="GARD:15293", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "FLNA frontometaphyseal dysplasia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "Fmd" RELATED [OMIM:305620] -synonym: "FMD1" RELATED ABBREVIATION [OMIM:305620] -synonym: "FRONTOMETAPHYSEAL dysplasia 1" RELATED [OMIM:305620] -synonym: "frontometaphyseal dysplasia 1, X-linked recessive" EXACT [OMIM:305620, OMIM:genemap2] +synonym: "Fmd" RELATED [] +synonym: "FMD1" RELATED ABBREVIATION [] +synonym: "FRONTOMETAPHYSEAL dysplasia 1" RELATED [] +synonym: "frontometaphyseal dysplasia 1, X-linked recessive" EXACT [] synonym: "frontometaphyseal dysplasia caused by mutation in FLNA" EXACT [MONDO:design_pattern] xref: DOID:0111786 {source="MONDO:equivalentTo"} xref: GARD:15293 {source="MONDO:GARD"} @@ -492321,20 +492415,20 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:538931"} subset: orphanet_rare {source="Orphanet:538931"} subset: rare -synonym: "Duncan disease" RELATED [OMIM:308240] -synonym: "EBV infection, Severe, susceptibility to" RELATED [OMIM:308240] -synonym: "Epstein-Barr Virus infection, familial fatal" RELATED [OMIM:308240] -synonym: "immunodeficiency 5" RELATED [OMIM:308240] -synonym: "immunodeficiency, X-linked progressive combined variable" RELATED [OMIM:308240] -synonym: "infectious mononucleosis, Severe, susceptibility to" RELATED [OMIM:308240] -synonym: "lymphoproliferative disease, X-linked" RELATED [OMIM:308240] -synonym: "lymphoproliferative syndrome, X-linked, 1" RELATED [OMIM:308240] -synonym: "lymphoproliferative syndrome, X-linked, 1, X-linked recessive" EXACT [OMIM:308240, OMIM:genemap2] -synonym: "Lyp" RELATED [OMIM:308240] -synonym: "Purtilo syndrome" RELATED [OMIM:308240] -synonym: "X-linked lymphoproliferative disease due to SH2D1A deficiency" EXACT CLINGEN_LABEL [] -synonym: "Xlp" RELATED [OMIM:308240] -synonym: "XLP1" RELATED ABBREVIATION [OMIM:308240] +synonym: "Duncan disease" RELATED [] +synonym: "EBV infection, Severe, susceptibility to" RELATED [] +synonym: "Epstein-Barr Virus infection, familial fatal" RELATED [] +synonym: "immunodeficiency 5" RELATED [] +synonym: "immunodeficiency, X-linked progressive combined variable" RELATED [] +synonym: "infectious mononucleosis, Severe, susceptibility to" RELATED [] +synonym: "lymphoproliferative disease, X-linked" RELATED [] +synonym: "lymphoproliferative syndrome, X-linked, 1" RELATED [] +synonym: "lymphoproliferative syndrome, X-linked, 1, X-linked recessive" EXACT [] +synonym: "Lyp" RELATED [] +synonym: "Purtilo syndrome" RELATED [] +synonym: "X-linked lymphoproliferative disease due to SH2D1A deficiency" EXACT CLINGEN_LABEL [Orphanet:538931] +synonym: "Xlp" RELATED [] +synonym: "XLP1" RELATED ABBREVIATION [] xref: GARD:7906 {source="MONDO:GARD"} xref: MEDGEN:1770239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:308240 {source="MONDO:equivalentTo", source="Orphanet:538931"} @@ -492358,14 +492452,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "HCCS microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "linear skin defects with multiple congenital anomalies 1" EXACT CLINGEN_LABEL [OMIM:309801] -synonym: "linear skin defects with multiple congenital anomalies 1, X-linked dominant" EXACT [OMIM:309801, OMIM:genemap2] -synonym: "LSDMCA1" RELATED ABBREVIATION [OMIM:309801] -synonym: "microphthalmia with linear skin defects" RELATED [OMIM:309801] +synonym: "linear skin defects with multiple congenital anomalies 1" EXACT CLINGEN_LABEL [DOID:0111808, OMIM:309801] +synonym: "linear skin defects with multiple congenital anomalies 1, X-linked dominant" EXACT [] +synonym: "LSDMCA1" RELATED ABBREVIATION [] +synonym: "microphthalmia with linear skin defects" RELATED [] synonym: "microphthalmia with linear skin defects syndrome caused by mutation in HCCS" EXACT [MONDO:design_pattern] -synonym: "microphthalmia, dermal aplasia, and sclerocornea" RELATED [OMIM:309801] -synonym: "microphthalmia, syndromic 7" RELATED [OMIM:309801] -synonym: "Midas syndrome" RELATED [OMIM:309801] +synonym: "microphthalmia, dermal aplasia, and sclerocornea" RELATED [] +synonym: "microphthalmia, syndromic 7" RELATED [] +synonym: "Midas syndrome" RELATED [] xref: DOID:0111808 {source="MONDO:equivalentTo"} xref: MEDGEN:163210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:309801 {source="MONDO:equivalentTo"} @@ -492387,10 +492481,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "mitochondrial myopathy and sideroblastic anaemia" RELATED OMO:0003005 [] -synonym: "mitochondrial myopathy and sideroblastic anemia" RELATED [OMIM:600462] -synonym: "MLASA1" RELATED ABBREVIATION [OMIM:600462] +synonym: "mitochondrial myopathy and sideroblastic anemia" RELATED [] +synonym: "MLASA1" RELATED ABBREVIATION [] synonym: "myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in PUS1" EXACT OMO:0003005 [] -synonym: "myopathy, lactic acidosis, and sideroblastic anemia 1" EXACT [OMIM:600462] +synonym: "myopathy, lactic acidosis, and sideroblastic anemia 1" EXACT [DOID:0111185, OMIM:600462] synonym: "myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1" EXACT [MONDO:design_pattern] synonym: "PUS1 myopathy, lactic acidosis, and sideroblastic anaemia" EXACT OMO:0003005 [] synonym: "PUS1 myopathy, lactic acidosis, and sideroblastic anemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] @@ -492410,10 +492504,10 @@ name: D-2-hydroxyglutaric aciduria 1 def: "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "D-2-hydroxyglutaric aciduria" BROAD [OMIM:600721, OMIM:genemap2] -synonym: "D-2-hydroxyglutaric aciduria 1" EXACT CLINGEN_LABEL [OMIM:600721] +synonym: "D-2-hydroxyglutaric aciduria" BROAD [] +synonym: "D-2-hydroxyglutaric aciduria 1" EXACT CLINGEN_LABEL [DOID:0111351, OMIM:600721] synonym: "D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH" EXACT [MONDO:design_pattern] -synonym: "D2HGA1" RELATED ABBREVIATION [OMIM:600721] +synonym: "D2HGA1" RELATED ABBREVIATION [] synonym: "D2HGDH D-2-hydroxyglutaric aciduria" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0111351 {source="MONDO:equivalentTo"} xref: MEDGEN:463405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -492432,14 +492526,14 @@ name: megalencephalic leukoencephalopathy with subcortical cysts 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "leukoencephalopathy with swelling and cysts" RELATED [OMIM:604004] -synonym: "Lvm" RELATED [OMIM:604004] -synonym: "megalencephalic leukoencephalopathy with subcortical cysts" BROAD [OMIM:604004, OMIM:genemap2] -synonym: "megalencephalic leukoencephalopathy with subcortical cysts 1" EXACT CLINGEN_LABEL [OMIM:604004] -synonym: "MLC1" RELATED ABBREVIATION [OMIM:604004] -synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" RELATED [OMIM:604004] -synonym: "Van Der Knaap disease" RELATED [OMIM:604004] -synonym: "VL" RELATED ABBREVIATION [OMIM:604004] +synonym: "leukoencephalopathy with swelling and cysts" RELATED [] +synonym: "Lvm" RELATED [] +synonym: "megalencephalic leukoencephalopathy with subcortical cysts" BROAD [] +synonym: "megalencephalic leukoencephalopathy with subcortical cysts 1" EXACT CLINGEN_LABEL [DOID:0080316, OMIM:604004] +synonym: "MLC1" RELATED ABBREVIATION [] +synonym: "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" RELATED [] +synonym: "Van Der Knaap disease" RELATED [] +synonym: "VL" RELATED ABBREVIATION [] xref: DOID:0080316 {source="MONDO:equivalentTo"} xref: MEDGEN:1826136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604004 {source="MONDO:equivalentTo"} @@ -492458,11 +492552,11 @@ subset: gard_rare {source="GARD:18202", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DEPDC5 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "epilepsy, familial focal, with variable foci" RELATED [OMIM:604364] +synonym: "epilepsy, familial focal, with variable foci" RELATED [] synonym: "epilepsy, familial focal, with variable foci 1" EXACT [OMIM:604364] synonym: "epilepsy, familial focal, with variable foci caused by mutation in DEPDC5" EXACT [MONDO:design_pattern] -synonym: "epilepsy, partial, with variable foci" RELATED [OMIM:604364] -synonym: "FFEVF1" RELATED ABBREVIATION [OMIM:604364] +synonym: "epilepsy, partial, with variable foci" RELATED [] +synonym: "FFEVF1" RELATED ABBREVIATION [] xref: DOID:0081421 {source="MONDO:equivalentTo"} xref: GARD:18202 {source="MONDO:GARD"} xref: MEDGEN:1641798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -492485,10 +492579,10 @@ subset: ordo_disorder {source="Orphanet:251347"} subset: orphanet_rare {source="Orphanet:251347"} subset: rare synonym: "ataxia - telangiectasia-like disorder caused by mutation in MRE11" EXACT [] -synonym: "ataxia-telangiectasia-like disorder 1" EXACT [OMIM:604391] +synonym: "ataxia-telangiectasia-like disorder 1" EXACT [NCIT:C132224, OMIM:604391] synonym: "ataxia-telangiectasia-like disorder caused by mutation in MRE11" EXACT [MONDO:design_pattern] -synonym: "Atld" RELATED [OMIM:604391] -synonym: "ATLD1" RELATED ABBREVIATION [OMIM:604391] +synonym: "Atld" RELATED [] +synonym: "ATLD1" RELATED ABBREVIATION [] synonym: "MRE11 ataxia - telangiectasia-like disorder" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "MRE11 ataxia-telangiectasia-like disorder" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0081384 {source="MONDO:equivalentTo"} @@ -492514,9 +492608,9 @@ subset: rare synonym: "HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11" EXACT [MONDO:design_pattern] synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 1" EXACT CLINGEN_LABEL [OMIM:605432] -synonym: "Rusat" RELATED [OMIM:605432] -synonym: "RUSAT1" RELATED ABBREVIATION [OMIM:605432] -synonym: "thrombocytopenia, congenital, with radioulnar synostosis" RELATED [OMIM:605432] +synonym: "Rusat" RELATED [] +synonym: "RUSAT1" RELATED ABBREVIATION [] +synonym: "thrombocytopenia, congenital, with radioulnar synostosis" RELATED [] xref: GARD:18068 {source="MONDO:GARD"} xref: MEDGEN:1637913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605432 {source="MONDO:equivalentTo"} @@ -492538,12 +492632,12 @@ subset: ordo_disorder {source="Orphanet:229"} subset: orphanet_rare {source="Orphanet:229"} subset: rare synonym: "AAT1" EXACT ABBREVIATION [OMIM:607086] -synonym: "aneurysm, thoracic aortic" RELATED [OMIM:607086] -synonym: "annuloaortic ectasia" RELATED [OMIM:607086] -synonym: "aortic aneurysm, familial thoracic" RELATED [OMIM:607086] -synonym: "aortic dissection, familial" RELATED [OMIM:607086] -synonym: "Erdheim cystic medial necrosis of aorta" RELATED [OMIM:607086] -synonym: "FAA1" RELATED ABBREVIATION [OMIM:607086] +synonym: "aneurysm, thoracic aortic" RELATED [] +synonym: "annuloaortic ectasia" RELATED [] +synonym: "aortic aneurysm, familial thoracic" RELATED [] +synonym: "aortic dissection, familial" RELATED [] +synonym: "Erdheim cystic medial necrosis of aorta" RELATED [] +synonym: "FAA1" RELATED ABBREVIATION [] xref: GARD:15408 {source="MONDO:GARD"} xref: MEDGEN:91038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C562834 {source="MONDO:equivalentTo"} @@ -492559,9 +492653,9 @@ name: PDA1 subset: gard_rare {source="GARD:7342", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "patent ductus arteriosus 1" RELATED [OMIM:607411] -synonym: "patent ductus arteriosus, susceptibility to" EXACT [OMIM:607411, OMIM:genemap2] -synonym: "PDA" RELATED ABBREVIATION [OMIM:607411] +synonym: "patent ductus arteriosus 1" RELATED [] +synonym: "patent ductus arteriosus, susceptibility to" EXACT [] +synonym: "PDA" RELATED ABBREVIATION [] synonym: "PDA1" EXACT ABBREVIATION [OMIM:607411] xref: GARD:7342 {source="MONDO:GARD"} xref: MEDGEN:924232 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -492578,13 +492672,13 @@ def: "Any vitelliform macular dystrophy in which the cause of the disease is a m subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "foveomacular dystrophy, adult-onset" RELATED [OMIM:608161] -synonym: "foveomacular dystrophy, adult-onset, with or without choroidal neovascularization" RELATED [OMIM:608161] -synonym: "macular dystrophy, vitelliform, 3" RELATED [OMIM:608161] +synonym: "foveomacular dystrophy, adult-onset" RELATED [] +synonym: "foveomacular dystrophy, adult-onset, with or without choroidal neovascularization" RELATED [] +synonym: "macular dystrophy, vitelliform, 3" RELATED [] synonym: "PRPH2 vitelliform macular dystrophy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "vitelliform macular dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern] -synonym: "vitelliform macular dystrophy, adult-onset" RELATED [OMIM:608161] -synonym: "VMD3" RELATED ABBREVIATION [OMIM:608161] +synonym: "vitelliform macular dystrophy, adult-onset" RELATED [] +synonym: "VMD3" RELATED ABBREVIATION [] xref: OMIM:608161 {source="MONDO:equivalentTo"} xref: Orphanet:99000 {source="OMIM:608161"} is_a: MONDO:0000390 {source="MONDO:Redundant", source="OMIM:608161"} ! vitelliform macular dystrophy @@ -492603,11 +492697,11 @@ subset: rare synonym: "SCN5A sick sinus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "sick sinus syndrome 1" EXACT [OMIM:608567] synonym: "sick sinus syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern] -synonym: "sick sinus syndrome, congenital" RELATED [OMIM:608567] -synonym: "sinus bradycardia syndrome, familial" RELATED [OMIM:608567] -synonym: "sinus node disease, familial, autosomal recessive" RELATED [OMIM:608567] -synonym: "sinus rhythm, congenital absence of" RELATED [OMIM:608567] -synonym: "SSS1" RELATED ABBREVIATION [OMIM:608567] +synonym: "sick sinus syndrome, congenital" RELATED [] +synonym: "sinus bradycardia syndrome, familial" RELATED [] +synonym: "sinus node disease, familial, autosomal recessive" RELATED [] +synonym: "sinus rhythm, congenital absence of" RELATED [] +synonym: "SSS1" RELATED ABBREVIATION [] xref: MEDGEN:325270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608567 {source="MONDO:equivalentTo"} xref: Orphanet:166282 {source="OMIM:608567"} @@ -492622,12 +492716,12 @@ id: MONDO:0024563 name: herpes simplex encephalitis, susceptibility to, 1 def: "A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the UNC93B1 gene." [MONDO:patterns/disease_series_by_gene] subset: predisposition -synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1" RELATED [OMIM:610551] -synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1" RELATED [OMIM:610551] -synonym: "encephalopathy, acute, infection-induced, susceptibility to, 1" RELATED [OMIM:610551] +synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1" RELATED [] +synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1" RELATED [] +synonym: "encephalopathy, acute, infection-induced, susceptibility to, 1" RELATED [] synonym: "herpes simplex encephalitis caused by mutation in UNC93B1" EXACT [MONDO:design_pattern] synonym: "herpes simplex encephalitis, susceptibility to, 1" EXACT [OMIM:610551] -synonym: "IIAE1" RELATED ABBREVIATION [OMIM:610551] +synonym: "IIAE1" RELATED ABBREVIATION [] synonym: "UNC93B1 herpes simplex encephalitis" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:413772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610551 {source="MONDO:equivalentTo"} @@ -492649,12 +492743,12 @@ def: "Any Coats plus syndrome in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:18441", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cerebroretinal microangiopathy with calcifications and cysts" BROAD [OMIM:612199, OMIM:genemap2] +synonym: "cerebroretinal microangiopathy with calcifications and cysts" BROAD [] synonym: "cerebroretinal microangiopathy with calcifications and cysts 1" EXACT CLINGEN_LABEL [OMIM:612199] -synonym: "Coats plus syndrome" RELATED [OMIM:612199] +synonym: "Coats plus syndrome" RELATED [] synonym: "Coats plus syndrome caused by mutation in CTC1" EXACT [MONDO:design_pattern] -synonym: "Crmcc" RELATED [OMIM:612199] -synonym: "CRMCC1" RELATED ABBREVIATION [OMIM:612199] +synonym: "Crmcc" RELATED [] +synonym: "CRMCC1" RELATED ABBREVIATION [] synonym: "CTC1 Coats plus syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18441 {source="MONDO:GARD"} xref: MEDGEN:1636142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -492676,7 +492770,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ectodermal dysplasia-syndactyly syndrome 1" EXACT [OMIM:613573] synonym: "ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4" EXACT [MONDO:design_pattern] -synonym: "EDSS1" RELATED ABBREVIATION [OMIM:613573] +synonym: "EDSS1" RELATED ABBREVIATION [] synonym: "NECTIN4 ectodermal dysplasia-syndactyly syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: MEDGEN:462157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613573 {source="MONDO:equivalentTo"} @@ -492693,8 +492787,8 @@ name: febrile seizures, familial, 11 subset: gard_rare {source="GARD:18283", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "convulsions, familial febrile, 11" RELATED [OMIM:614418] -synonym: "FEB11" RELATED ABBREVIATION [OMIM:614418] +synonym: "convulsions, familial febrile, 11" RELATED [] +synonym: "FEB11" RELATED ABBREVIATION [] synonym: "febrile seizures, familial, 11" EXACT [OMIM:614418] xref: DOID:0111308 {source="MONDO:equivalentTo"} xref: GARD:18283 {source="MONDO:GARD"} @@ -492716,8 +492810,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" EXACT [OMIM:615419] synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN" EXACT [MONDO:design_pattern] -synonym: "Ihprf" RELATED [OMIM:615419] -synonym: "IHPRF1" RELATED ABBREVIATION [OMIM:615419] +synonym: "Ihprf" RELATED [] +synonym: "IHPRF1" RELATED ABBREVIATION [] synonym: "NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: GARD:18457 {source="MONDO:GARD"} xref: MEDGEN:815784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -492740,11 +492834,11 @@ subset: orphanet_rare {source="Orphanet:370088"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "acute infantile liver failure - multisystemic involvement syndrome" RELATED [] -synonym: "ILFS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:615438] +synonym: "ILFS1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "infantile liver failure caused by mutation in LARS" EXACT [] synonym: "infantile liver failure caused by mutation in Lars" EXACT [MONDO:design_pattern] -synonym: "infantile liver failure syndrome 1" EXACT [MONDO:Lexical, OMIM:615438] -synonym: "infantile liver failure syndrome type 1" EXACT [MONDORULE:1, OMIM:615438] +synonym: "infantile liver failure syndrome 1" EXACT [DOID:0080717, MONDO:Lexical, OMIM:615438] +synonym: "infantile liver failure syndrome type 1" EXACT [MONDORULE:1] synonym: "LARS infantile liver failure" EXACT [MONDO:patterns/disease_series_by_gene] synonym: "Lars infantile liver failure" EXACT [MONDO:design_pattern] xref: DOID:0080717 {source="MONDO:equivalentTo"} @@ -492766,8 +492860,8 @@ name: optic atrophy 8 subset: gard_rare {source="GARD:16148", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "OPA8" EXACT ABBREVIATION [OMIM:616648] -synonym: "optic atrophy 8" EXACT [OMIM:616648] +synonym: "OPA8" EXACT ABBREVIATION [DOID:0111439, OMIM:616648] +synonym: "optic atrophy 8" EXACT [DOID:0111439, OMIM:616648] xref: DOID:0111439 {source="MONDO:equivalentTo"} xref: GARD:16148 {source="MONDO:GARD"} xref: MEDGEN:898923 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -492787,9 +492881,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "familial isolated hyperparathyroidism caused by mutation in GCM2" EXACT [MONDO:design_pattern] synonym: "GCM2 familial isolated hyperparathyroidism" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "HRPT4" RELATED ABBREVIATION [OMIM:617343] +synonym: "HRPT4" RELATED ABBREVIATION [] synonym: "hyperparathyroidism 4" EXACT [OMIM:617343] -synonym: "hyperparathyroidism type 4" EXACT [MONDORULE:1, OMIM:617343] +synonym: "hyperparathyroidism type 4" EXACT [MONDORULE:1] xref: GARD:18256 {source="MONDO:GARD"} xref: MEDGEN:1386327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617343 {source="MONDO:equivalentTo"} @@ -492808,7 +492902,7 @@ id: MONDO:0024571 name: AIDS-related disorder def: "A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome." [NCIT:C4991] subset: otar {source="MONDO:OTAR"} -synonym: "AIDS-related complications" EXACT [NCIT:C4991] +synonym: "AIDS-related complications" EXACT [] synonym: "AIDS-related disorder" EXACT [NCIT:C4991] synonym: "AIDS/HIV - relatedDisease associated with AIDS" EXACT [NCIT:C4991] synonym: "disease associated with AIDS" EXACT [NCIT:C4991] @@ -492827,7 +492921,7 @@ def: "A non-neoplastic or neoplastic disorder that develops in a patient with im subset: otar {source="MONDO:OTAR"} synonym: "immunodeficiency-related disorder" EXACT [NCIT:C35686] synonym: "Immunodepression-related disorder" EXACT [NCIT:C35686] -synonym: "Immunosuppression disorders" EXACT [NCIT:C35686] +synonym: "Immunosuppression disorders" EXACT [] synonym: "Immunosuppression-related disorder" EXACT [NCIT:C35686] xref: MEDGEN:232641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35686 {source="MONDO:equivalentTo"} @@ -492844,8 +492938,8 @@ subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cardiomyopathy, familial hypertrophic" EXACT [OMIMPS:192600] -synonym: "familial hypertrophic cardiomyopathy" EXACT CLINGEN_LABEL [NCIT:C84773] -synonym: "familila or idiopathic hypertrophic obstructive cardiomyopathy" EXACT [Orphanet:155] +synonym: "familial hypertrophic cardiomyopathy" EXACT CLINGEN_LABEL [DOID:0080326, NCIT:C84773] +synonym: "familila or idiopathic hypertrophic obstructive cardiomyopathy" EXACT [] synonym: "hereditary hypertrophic cardiomyopathy" EXACT [MONDO:patterns/hereditary] synonym: "hypertrophic familial cardiomyopathy" EXACT [NCIT:C84773] xref: DOID:0080326 {source="MONDO:equivalentTo"} @@ -492868,10 +492962,10 @@ def: "Hereditary or acquired coagulation disorder characterized by a qualitative subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Von Willebrand Disease" EXACT [NORD:1831] +synonym: "Von Willebrand Disease" EXACT [NCIT:C68677, NORD:1831] synonym: "von Willebrand disease" RELATED [] synonym: "von Willebrand disorder" EXACT [NCIT:C68677] -synonym: "von Willebrand's disease" EXACT [NCIT:C68677] +synonym: "von Willebrand's disease" EXACT [ICD10CM:D68.0, NCIT:C68677] synonym: "VWD" EXACT ABBREVIATION [] xref: ICD10CM:D68.0 {source="MONDO:equivalentTo"} xref: ICD9:286.4 {source="MONDO:equivalentTo", source="MONDO:i2s"} @@ -492978,8 +493072,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:662184"} subset: orphanet_rare {source="Orphanet:662184"} subset: rare -synonym: "MDCCAID" RELATED ABBREVIATION [OMIM:617404] -synonym: "muscular dystrophy, congenital, with cataracts and intellectual disability" RELATED [OMIM:617404] +synonym: "MDCCAID" RELATED ABBREVIATION [] +synonym: "muscular dystrophy, congenital, with cataracts and intellectual disability" RELATED [] xref: DOID:0080197 {source="MONDO:equivalentTo"} xref: MEDGEN:1382291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617404 {source="DOID:0080197", source="MONDO:equivalentTo"} @@ -493023,15 +493117,15 @@ synonym: "epidermoid carcinoma of vulva" EXACT [NCIT:C4052] synonym: "epidermoid cell carcinoma of the vulva" EXACT [NCIT:C4052] synonym: "epidermoid cell carcinoma of vulva" EXACT [NCIT:C4052] synonym: "mammalian vulva squamous cell carcinoma" EXACT [MONDO:patterns/location] -synonym: "squamous cell carcinoma of the vulva" EXACT [NCIT:C4052] -synonym: "squamous cell carcinoma of vulva" EXACT [DOID:2101, NCIT:C4052] +synonym: "squamous cell carcinoma of the vulva" EXACT [NCIT:C4052, Orphanet:494448] +synonym: "squamous cell carcinoma of vulva" EXACT [icd11.foundation:146824338, NCIT:C4052] synonym: "vulva epidermoid carcinoma" EXACT [NCIT:C4052] synonym: "vulva epidermoid cell carcinoma" EXACT [NCIT:C4052] -synonym: "vulva squamous cell carcinoma" EXACT [MONDO:0002210, NCIT:C4052] +synonym: "vulva squamous cell carcinoma" EXACT [DOID:2101, MONDO:0002210, NCIT:C4052] synonym: "vulvar epidermoid carcinoma" EXACT [DOID:2101, NCIT:C4052] synonym: "vulvar epidermoid cell carcinoma" EXACT [NCIT:C4052] synonym: "vulvar squamous cell cancer" EXACT [NCIT:C4052] -synonym: "vulvar squamous cell carcinoma" EXACT [DOID:2101, MONDO:0006492, NCIT:C4052] +synonym: "vulvar squamous cell carcinoma" EXACT [DOID:2101, MONDO:0006492, NCIT:C4052, Orphanet:494448] xref: DOID:2101 {source="MONDO:equivalentTo"} xref: EFO:1000624 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:22005 {source="MONDO:GARD"} @@ -493165,7 +493259,7 @@ id: MONDO:0024617 name: xanthogranuloma subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "xanthogranuloma" EXACT [NCIT:C27302] +synonym: "xanthogranuloma" EXACT [] xref: MEDGEN:1717859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27302 {source="MONDO:equivalentTo"} xref: SCTID:189099001 {source="MONDO:equivalentTo"} @@ -493236,7 +493330,7 @@ id: MONDO:0024621 name: serous cystadenocarcinoma def: "A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures." [NCIT:C3778] subset: otar {source="MONDO:OTAR"} -synonym: "serous adenocarcinoma" BROAD [NCIT:C3778] +synonym: "serous adenocarcinoma" BROAD [] synonym: "serous cystadenocarcinoma" EXACT [NCIT:C3778] xref: ICDO:8441/3 {source="NCIT:C3778"} xref: MEDGEN:60212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -493255,7 +493349,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "thyroid adenocarcinoma" EXACT [NCIT:C27380] -synonym: "thyroid gland adenocarcinoma" EXACT [NCIT:C27380] +synonym: "thyroid gland adenocarcinoma" EXACT [DOID:0080524, NCIT:C27380] xref: DOID:0080524 {source="MONDO:equivalentTo"} xref: MEDGEN:309935 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27380 {source="MONDO:equivalentTo"} @@ -493560,7 +493654,7 @@ synonym: "ischaemic heart diseases" RELATED OMO:0003005 [] synonym: "ischemia, myocardial" RELATED [MESH:D017202] synonym: "ischemias, myocardial" RELATED [MESH:D017202] synonym: "ischemic disease of myocardium" EXACT [MONDO:design_pattern] -synonym: "ischemic heart disease" EXACT [MESH:D017202] +synonym: "ischemic heart disease" EXACT [MESH:D017202, NCIT:C50625] synonym: "ischemic heart diseases" RELATED [MESH:D017202] synonym: "myocardial Ischemias" RELATED [MESH:D017202] synonym: "myocardium ischaemic disease" EXACT OMO:0003005 [] @@ -493614,7 +493708,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "calculus" EXACT [] synonym: "kidney stone" BROAD [] synonym: "urinary stones" EXACT [NCIT:C114688] -synonym: "urolithiasis" EXACT [] +synonym: "urolithiasis" EXACT [DOID:0080653, ICD10CM:N20-N23, icd11.foundation:1746821938, NCIT:C114688] xref: DOID:0080653 {source="MONDO:equivalentTo"} xref: ICD10CM:N20-N23 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:N21 {source="MONDO:equivalentTo"} @@ -493633,11 +493727,11 @@ def: "A meningioma that affects the visual pathway." [NCIT:C5587] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "meningioma (disease) of optic tract" EXACT [] -synonym: "meningioma of optic tract" EXACT [NCIT:C5587] -synonym: "meningioma of the optic tract" EXACT [NCIT:C5587] +synonym: "meningioma of optic tract" EXACT [] +synonym: "meningioma of the optic tract" EXACT [] synonym: "meningioma of the visual pathway" EXACT [NCIT:C5587] synonym: "meningioma of visual pathway" EXACT [NCIT:C5587] -synonym: "optic tract meningioma" EXACT [NCIT:C5587] +synonym: "optic tract meningioma" EXACT [] synonym: "optic tract meningioma (disease)" EXACT [MONDO:patterns/location] synonym: "visual pathway meningioma" EXACT [NCIT:C5587] xref: MEDGEN:234991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -493654,7 +493748,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "astrocytoma (excluding glioblastoma) of optic tract" EXACT [MONDO:design_pattern] -synonym: "optic tract astrocytoma" EXACT [NCIT:C7533] +synonym: "optic tract astrocytoma" EXACT [] synonym: "optic tract astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] synonym: "visual pathway astrocytoma" EXACT [NCIT:C7533] xref: MEDGEN:237052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -493671,7 +493765,7 @@ name: drug-induced osteoporosis subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "drug-induced osteoporosis" EXACT [] +synonym: "drug-induced osteoporosis" EXACT [icd11.foundation:691296096] xref: icd11.foundation:691296096 {source="MONDO:equivalentTo"} xref: ICD9:733.09 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:538336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -493700,7 +493794,7 @@ intersection_of: realized_in_response_to_stimulus CHEBI:50858 ! corticosteroid id: MONDO:0024652 name: embryonic cyst of fallopian tube synonym: "cyst of mesenteric remnant" RELATED [] -synonym: "embryonic cyst of fallopian tube" EXACT [] +synonym: "embryonic cyst of fallopian tube" EXACT [ICD10CM:Q50.4, icd11.foundation:440178290] xref: ICD10CM:Q50.4 {source="MONDO:equivalentTo"} xref: icd11.foundation:440178290 {source="MONDO:equivalentTo"} xref: MEDGEN:609068 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -494002,7 +494096,7 @@ synonym: "adenosarcoma of adult kidney" EXACT [NCIT:C6180] synonym: "adenosarcoma of the adult kidney" EXACT [NCIT:C6180] synonym: "adult kidney adenosarcoma" EXACT [NCIT:C6180] synonym: "adult kidney Wilms tumor" EXACT [NCIT:C6180] -synonym: "adult nephroblastoma" EXACT [NCIT:C6180] +synonym: "adult nephroblastoma" EXACT [] synonym: "adult renal adenosarcoma" EXACT [NCIT:C6180] synonym: "adult renal Wilms tumor" EXACT [NCIT:C6180] synonym: "adult renal Wilms tumour" EXACT OMO:0003005 [] @@ -494030,9 +494124,9 @@ synonym: "childhood renal Wilms' tumor" EXACT [NCIT:C27730] synonym: "childhood renal Wilms' tumour" EXACT OMO:0003005 [] synonym: "childhood Wilms tumor" EXACT [NCIT:C27730] synonym: "childhood Wilms tumour" EXACT OMO:0003005 [] -synonym: "kidney Wilms tumor" BROAD [NCIT:C27730] +synonym: "kidney Wilms tumor" BROAD [] synonym: "kidney Wilms tumour" BROAD OMO:0003005 [] -synonym: "Wilms tumor" BROAD [NCIT:C27730] +synonym: "Wilms tumor" BROAD [] synonym: "Wilms tumour" BROAD OMO:0003005 [] xref: MEDGEN:232073 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C27730 {source="MONDO:equivalentTo"} @@ -494060,15 +494154,15 @@ synonym: "beta-cell tumor" RELATED [MESH:D007340] synonym: "beta-cell tumors" RELATED [MESH:D007340] synonym: "beta-cell tumour" RELATED OMO:0003005 [] synonym: "beta-cell tumours" RELATED OMO:0003005 [] -synonym: "insulin-producing tumor of islet cells" RELATED EXCLUDE [DOID:3892] +synonym: "insulin-producing tumor of islet cells" RELATED EXCLUDE [] synonym: "insulin-producing tumour of islet cells" RELATED OMO:0003005 [] -synonym: "insulinoma" EXACT [NCIT:C95598] +synonym: "insulinoma" EXACT [DOID:3892, NCIT:C95598] synonym: "insulinoma tumor suppressor GENE locus" RELATED [MESH:D007340] synonym: "insulinoma tumour suppressor GENE locus" RELATED OMO:0003005 [] synonym: "Insulinomas" RELATED [MESH:D007340] synonym: "insuloma" RELATED [MESH:D007340] synonym: "Insulomas" RELATED [MESH:D007340] -synonym: "islet cell adenoma" RELATED [DOID:3892] +synonym: "islet cell adenoma" RELATED [] synonym: "pancreatic insulinoma" EXACT [NCIT:C95598] synonym: "tumor, beta-cell" RELATED [MESH:D007340] synonym: "tumors, beta-cell" RELATED [MESH:D007340] @@ -494135,14 +494229,14 @@ synonym: "diffuse pigmented villonodular synovitis" NARROW [GARD:0007396] synonym: "diffuse tenosynovial giant cell neoplasm" EXACT [NCIT:C3401] synonym: "diffuse tenosynovial giant cell tumor" EXACT [NCIT:C3401] synonym: "diffuse tenosynovial giant cell tumour" EXACT OMO:0003005 [] -synonym: "diffuse-type GCT" NARROW [Orphanet:66627] -synonym: "diffuse-type giant cell tumor" NARROW [Orphanet:66627] +synonym: "diffuse-type GCT" NARROW [] +synonym: "diffuse-type giant cell tumor" NARROW [] synonym: "diffuse-type giant cell tumour" NARROW OMO:0003005 [] synonym: "localised pigmented villonodular synovitis" NARROW OMO:0003005 [] synonym: "localized pigmented villonodular synovitis" NARROW [GARD:0007396] -synonym: "pigmented villonodular synovitis" EXACT [NCIT:C3401] -synonym: "Tenosynovial Giant Cell Tumor" EXACT [NORD:1916] -synonym: "tenosynovial giant cell tumor" RELATED [Orphanet:66627] +synonym: "pigmented villonodular synovitis" EXACT [DOID:2702, NCIT:C3401, Orphanet:66627] +synonym: "Tenosynovial Giant Cell Tumor" EXACT [NORD:1916, Orphanet:66627] +synonym: "tenosynovial giant cell tumor" RELATED [] synonym: "tenosynovial giant cell tumor diffuse type" RELATED [ONCOTREE:TGCT] synonym: "tenosynovial giant cell tumor, diffuse type" EXACT [NCIT:C3401] synonym: "tenosynovial giant cell tumors" RELATED [GARD:0007396] @@ -494151,7 +494245,7 @@ synonym: "tenosynovial giant cell tumour diffuse type" RELATED OMO:0003005 [] synonym: "tenosynovial giant cell tumours" RELATED OMO:0003005 [] synonym: "TGCT" EXACT ABBREVIATION [Orphanet:66627] synonym: "TSGCT" EXACT ABBREVIATION [Orphanet:66627] -synonym: "villonodular synovitis" RELATED [DOID:9898] +synonym: "villonodular synovitis" RELATED [] synonym: "villous tenosynovitis" EXACT [DOID:2702] xref: DOID:2702 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="EFO:1001106"} xref: DOID:9898 {source="MONDO:equivalentTo"} @@ -494236,7 +494330,7 @@ def: "A neoplasm that arises from the choroid plexus in the brain and occurs dur subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood choroid plexus neoplasm" EXACT [NCIT:C42080] -synonym: "choroid plexus neoplasm" BROAD [NCIT:C42080] +synonym: "choroid plexus neoplasm" BROAD [] synonym: "choroid plexus neoplasm of childhood" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] synonym: "paediatric choroid plexus neoplasm" EXACT OMO:0003005 [] synonym: "pediatric choroid plexus neoplasm" EXACT [MONDO:design_pattern, MONDO:patterns/childhood] @@ -494254,7 +494348,7 @@ def: "A teratoma composed of immature, fetal-type tissues." [NCIT:C4286] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "embryonal teratoma" EXACT [NCIT:C4286] -synonym: "hrade 2 Teratoma" EXACT [NCIT:C4286] +synonym: "hrade 2 Teratoma" EXACT [] synonym: "immature teratoma" EXACT [NCIT:C4286] xref: ICDO:9080/3 {source="NCIT:C4286"} xref: MEDGEN:90798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -494323,7 +494417,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "intellectual developmental disorder, X-linked, syndromic, Pilorge type" EXACT [OMIM:301076] -synonym: "MRXSP" EXACT ABBREVIATION [OMIM:301076] +synonym: "MRXSP" EXACT ABBREVIATION [DOID:0070422, OMIM:301076] xref: DOID:0070422 {source="MONDO:equivalentTo"} xref: MEDGEN:1803486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301076 {source="MONDO:equivalentTo"} @@ -494336,7 +494430,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0024773 name: spermatogenic failure, X-linked, 4 synonym: "spermatogenic failure, X-linked, 4" EXACT [OMIM:301077] -synonym: "SPGFX4" EXACT ABBREVIATION [OMIM:301077] +synonym: "SPGFX4" EXACT ABBREVIATION [DOID:0070595, OMIM:301077] xref: DOID:0070595 {source="MONDO:equivalentTo"} xref: MEDGEN:1804024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301077 {source="MONDO:equivalentTo"} @@ -494439,10 +494533,10 @@ name: immature extragonadal teratoma def: "An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary." [NCIT:C8884] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "extragonadal primary malignant teratoma" EXACT [NCIT:C8884] +synonym: "extragonadal primary malignant teratoma" EXACT [] synonym: "immature extragonadal teratoma" EXACT [NCIT:C8884] -synonym: "malignant extragonadal teratoma" EXACT [NCIT:C8884] -synonym: "primary malignant extragonadal teratoma" EXACT [NCIT:C8884] +synonym: "malignant extragonadal teratoma" EXACT [] +synonym: "primary malignant extragonadal teratoma" EXACT [] xref: MEDGEN:167781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8884 {source="MONDO:equivalentTo"} xref: UMLS:C0855163 {source="MEDGEN:167781", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -494508,7 +494602,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "carcinoma of clitoris" EXACT [MONDO:patterns/carcinoma, NCIT:C9362] synonym: "carcinoma of the clitoris" EXACT [NCIT:C9362] -synonym: "clitoral cancer" BROAD [NCIT:C9362] +synonym: "clitoral cancer" BROAD [] synonym: "clitoral carcinoma" EXACT [NCIT:C9362] synonym: "clitoris carcinoma" EXACT [NCIT:C9362] xref: MEDGEN:234155 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -494645,7 +494739,7 @@ name: metastatic neoplasm def: "A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology." [NCIT:C3261] comment: Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. subset: otar {source="MONDO:OTAR"} -synonym: "metastatic disease" EXACT [NCIT:C3261] +synonym: "metastatic disease" EXACT [] synonym: "metastatic neoplasm" EXACT [NCIT:C3261] synonym: "metastatic tumor" EXACT [NCIT:C3261] synonym: "metastatic tumour" EXACT OMO:0003005 [] @@ -494709,15 +494803,15 @@ def: "An epithelial neoplasm of the female reproductive system arising from meso synonym: "mesonephric duct neoplasm" EXACT [] synonym: "mesonephric duct tumor" EXACT [MONDO:patterns/neoplasm] synonym: "mesonephric duct tumour" EXACT OMO:0003005 [] -synonym: "mesonephric neoplasm" EXACT [NCIT:C4295] -synonym: "mesonephric tumor" EXACT [NCIT:C4295] +synonym: "mesonephric neoplasm" EXACT [] +synonym: "mesonephric tumor" EXACT [] synonym: "mesonephric tumour" EXACT OMO:0003005 [] -synonym: "mesonephroma" EXACT [NCIT:C4295] +synonym: "mesonephroma" EXACT [] synonym: "neoplasm of mesonephric duct" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of mesonephric duct" EXACT [MONDO:patterns/neoplasm] synonym: "tumour of mesonephric duct" EXACT OMO:0003005 [] -synonym: "Wolffian duct neoplasm" EXACT [NCIT:C4295] -synonym: "Wolffian duct tumor" EXACT [NCIT:C4295] +synonym: "Wolffian duct neoplasm" EXACT [] +synonym: "Wolffian duct tumor" EXACT [] synonym: "Wolffian duct tumour" EXACT OMO:0003005 [] xref: ICDO:9110/1 {source="NCIT:C4295"} xref: MEDGEN:137779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -494732,13 +494826,13 @@ id: MONDO:0024889 name: benign mesonephroma def: "A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants." [NCIT:C4294] synonym: "benign mesonephric neoplasm" EXACT [] -synonym: "benign Mesonephroma" EXACT [NCIT:C4294] -synonym: "mesonephric adenoma" EXACT [DOID:2616, NCIT:C4294] +synonym: "benign Mesonephroma" EXACT [DOID:2616] +synonym: "mesonephric adenoma" EXACT [DOID:2616] synonym: "mesonephric duct adenoma" EXACT [MONDO:patterns/location] synonym: "mesonephric neoplasm, benign" EXACT [MONDO:patterns/benign] synonym: "Mesonephroma, benign" EXACT [DOID:2616] -synonym: "Mesonephroma, benign (morphologic abnormality)" EXACT [DOID:2616] -synonym: "Wolffian duct adenoma" EXACT [DOID:2616, NCIT:C4294] +synonym: "Mesonephroma, benign (morphologic abnormality)" EXACT [] +synonym: "Wolffian duct adenoma" EXACT [DOID:2616] xref: DOID:2616 {source="MONDO:equivalentTo"} xref: ICDO:9110/0 {source="NCIT:C4294"} xref: MEDGEN:87259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -494794,13 +494888,13 @@ def: "A soft tissue neoplasm composed of acellular amyloid material." [NCIT:C832 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "amyloid neoplasm" EXACT [DOID:6755, NCIT:C8323] -synonym: "amyloid tumor" RELATED [DOID:6755] -synonym: "amyloid tumor (morphologic abnormality)" EXACT [DOID:6755] +synonym: "amyloid neoplasm" EXACT [DOID:6755] +synonym: "amyloid tumor" RELATED [] +synonym: "amyloid tumor (morphologic abnormality)" EXACT [] synonym: "amyloid tumour" RELATED OMO:0003005 [] synonym: "amyloid tumour (morphologic abnormality)" EXACT OMO:0003005 [] -synonym: "soft tissue amyloid neoplasm" EXACT [NCIT:C8323] -synonym: "soft tissue amyloid tumor" EXACT [NCIT:C8323] +synonym: "soft tissue amyloid neoplasm" EXACT [] +synonym: "soft tissue amyloid tumor" EXACT [] synonym: "soft tissue amyloid tumour" EXACT OMO:0003005 [] xref: DOID:6755 {source="EFO:0003114", source="MONDO:equivalentTo"} xref: ICD9:714.32 {source="MONDO:relatedTo", source="EFO:0003114"} @@ -495572,10 +495666,10 @@ subset: ordo_inheritance_inconsistent subset: orphanet_rare {source="Orphanet:98897"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" RELATED [OMIM:164310] +synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" RELATED [] synonym: "oculopharyngeal distal myopathy" EXACT [Orphanet:98897] -synonym: "oculopharyngodistal myopathy" EXACT [MONDO:Lexical, OMIM:164310] -synonym: "OPDM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:164310, Orphanet:98897] +synonym: "oculopharyngodistal myopathy" EXACT [DOID:0081296, icd11.foundation:1493269618, MONDO:Lexical, OMIMPS:164310, Orphanet:98897] +synonym: "OPDM" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:98897] xref: DOID:0081296 {source="MONDO:equivalentTo"} xref: GARD:12592 {source="MONDO:GARD"} xref: ICD10CM:G71.0 {source="Orphanet:98897", source="Orphanet:98897/attributed", source="Orphanet:98897/ntbt"} @@ -495703,7 +495797,7 @@ id: MONDO:0025351 name: multiple congenital anomalies-neurodevelopmental syndrome, X-linked synonym: "Linked syndrome" EXACT [OMIM:301056] synonym: "MCAND" EXACT ABBREVIATION [OMIM:301056] -synonym: "multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive" EXACT [OMIM:301056, OMIM:genemap2] +synonym: "multiple congenital anomalies-neurodevelopmental syndrome, X-linked, X-linked recessive" EXACT [] xref: MEDGEN:1788942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301056 {source="MONDO:equivalentTo"} xref: UMLS:C5542341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1788942"} @@ -495719,9 +495813,9 @@ name: developmental and epileptic encephalopathy, 90 subset: gard_rare {source="GARD:15286", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE90" EXACT ABBREVIATION [OMIM:301058] -synonym: "developmental and epileptic encephalopathy 90" EXACT [OMIM:301058] -synonym: "developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant" EXACT [OMIM:301058, OMIM:genemap2] +synonym: "DEE90" EXACT ABBREVIATION [DOID:0070381, OMIM:301058] +synonym: "developmental and epileptic encephalopathy 90" EXACT [DOID:0070381, OMIM:301058] +synonym: "developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant" EXACT [] xref: DOID:0070381 {source="MONDO:equivalentTo"} xref: GARD:15286 {source="MONDO:GARD"} xref: MEDGEN:1786502 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -495737,8 +495831,8 @@ name: spermatogenic failure, X-linked, 3 subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} synonym: "spermatogenic failure, X-linked, 3" EXACT [OMIM:301059] -synonym: "spermatogenic failure, X-linked, 3, X-linked recessive" EXACT [OMIM:301059, OMIM:genemap2] -synonym: "SPGFX3" EXACT ABBREVIATION [OMIM:301059] +synonym: "spermatogenic failure, X-linked, 3, X-linked recessive" EXACT [] +synonym: "SPGFX3" EXACT ABBREVIATION [DOID:0112274, OMIM:301059] xref: DOID:0112274 {source="MONDO:equivalentTo"} xref: MEDGEN:1784059 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301059 {source="MONDO:equivalentTo"} @@ -495751,7 +495845,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0025356 name: azoospermia, obstructive, with nephrolithiasis -synonym: "azoospermia, obstructive, with nephrolithiasis, X-linked recessive" EXACT [OMIM:301060, OMIM:genemap2] +synonym: "azoospermia, obstructive, with nephrolithiasis, X-linked recessive" EXACT [] synonym: "OAZON" EXACT ABBREVIATION [OMIM:301060] xref: MEDGEN:1779119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301060 {source="MONDO:equivalentTo"} @@ -496215,7 +496309,7 @@ synonym: "infectious diseases, zoonotic" RELATED [MESH:D015047] synonym: "zoonoses" EXACT [https://orcid.org/0000-0002-2825-0621] synonym: "zoonotic disease" EXACT [https://orcid.org/0000-0002-2825-0621, MESH:D015047] synonym: "zoonotic diseases" EXACT [MESH:D015047] -synonym: "zoonotic infection" EXACT [https://orcid.org/0000-0002-2825-0621, MESH:D015047, NCIT:C35803] +synonym: "zoonotic infection" EXACT [https://orcid.org/0000-0002-2825-0621, MESH:D015047] synonym: "zoonotic infections" EXACT [MESH:D015047] synonym: "zoonotic infectious disease" RELATED [MESH:D015047] synonym: "zoonotic infectious diseases" RELATED [MESH:D015047] @@ -496455,7 +496549,7 @@ id: MONDO:0025511 name: obsolete inherited neuroendocrine tumor def: "OBSOLETE. An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_group_of_disorders {source="Orphanet:271847"} -synonym: "genetic neuroendocrine tumor" RELATED [Orphanet:271847] +synonym: "genetic neuroendocrine tumor" RELATED [] synonym: "genetic neuroendocrine tumour" RELATED OMO:0003005 [] synonym: "hereditary neuroendocrine neoplasm" EXACT [MONDO:patterns/hereditary] xref: Orphanet:271847 {source="MONDO:obsoleteEquivalent"} @@ -496509,8 +496603,8 @@ synonym: "idiopathic atrophic blanche" RELATED [] synonym: "livedo reticularis with summer ulcerations" RELATED [GARD:0012784] synonym: "livedo reticularis with winter ulcerations" RELATED [GARD:0012784] synonym: "livedo vasculitis" RELATED [GARD:0012784] -synonym: "livedoid vasculitis" EXACT [GARD:0012784] -synonym: "livedoid vasculopathy" EXACT [DOID:0040099] +synonym: "livedoid vasculitis" EXACT [DOID:0040099, GARD:0012784, ICD10CM:L95.0, icd11.foundation:1237292304] +synonym: "livedoid vasculopathy" EXACT [DOID:0040099, icd11.foundation:1237292304, Orphanet:542643] synonym: "segmental hyalinizing vasculopathy" RELATED [GARD:0012784] synonym: "white atrophy" RELATED [] xref: DOID:0040099 {source="MONDO:equivalentTo"} @@ -496546,9 +496640,9 @@ id: MONDO:0025518 name: obsolete aspirin allergy def: "OBSOLETE. A allergic disease involving a acetylsalicylic acid." [MONDO:patterns/allergy] synonym: "acetylsalicylic acid allergic disease" EXACT [] -synonym: "acetylsalicylic acid allergy" EXACT [DOID:0040002] +synonym: "acetylsalicylic acid allergy" EXACT [] synonym: "allergy of acetylsalicylic acid" EXACT [MONDO:patterns/allergy] -synonym: "ASA allergy" EXACT [DOID:0040002] +synonym: "ASA allergy" EXACT [] xref: DOID:0040002 {source="MONDO:obsoleteEquivalent"} xref: ICD9:995.27 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: IEDB:RV {source="DOID:0040002"} @@ -496560,7 +496654,7 @@ is_obsolete: true [Term] id: MONDO:0025556 name: isocyanate induced asthma -synonym: "isocyanates allergic asthma" RELATED [DOID:0040041] +synonym: "isocyanates allergic asthma" RELATED [] xref: DOID:0040041 {source="MONDO:equivalentTo"} xref: ICD9:506.3 {source="MONDO:relatedTo", source="MONDO:i2s"} xref: MEDGEN:729881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -496575,8 +496669,8 @@ id: MONDO:0025598 name: pneumonia caused by chlamydia def: "An pneumonia caused by infection with Chlamydia." [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Chlamydia caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] -synonym: "Chlamydia pneumonia" EXACT [] -synonym: "chlamydia pneumonia" EXACT [] +synonym: "Chlamydia pneumonia" EXACT [DOID:0040083] +synonym: "chlamydia pneumonia" EXACT [DOID:0040083] synonym: "chlamydial pneumonia" EXACT [] xref: DOID:0040083 {source="MONDO:equivalentTo"} xref: ICD10CM:J16.0 {source="DOID:0040083"} @@ -496636,7 +496730,7 @@ name: dystonia 30 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DYT30" EXACT ABBREVIATION [OMIM:619291] +synonym: "DYT30" EXACT ABBREVIATION [DOID:0060937, OMIM:619291] xref: DOID:0060937 {source="MONDO:equivalentTo"} xref: MEDGEN:1785079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619291 {source="MONDO:equivalentTo"} @@ -496650,7 +496744,7 @@ name: Coffin-Siris syndrome 12 subset: gard_rare {source="GARD:16443", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CSS12" EXACT ABBREVIATION [OMIM:619325] +synonym: "CSS12" EXACT ABBREVIATION [DOID:0112370, OMIM:619325] xref: DOID:0112370 {source="MONDO:equivalentTo"} xref: GARD:16443 {source="MONDO:GARD"} xref: MEDGEN:1782096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -496665,7 +496759,7 @@ name: leukodystrophy, hypomyelinating, 22 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HLD22" EXACT ABBREVIATION [OMIM:619328] +synonym: "HLD22" EXACT ABBREVIATION [DOID:0070402, OMIM:619328] xref: DOID:0070402 {source="MONDO:equivalentTo"} xref: MEDGEN:1787833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619328 {source="MONDO:equivalentTo"} @@ -496976,11 +497070,11 @@ is_obsolete: true [Term] id: MONDO:0026404 name: X inactivation, familial skewed, 1 -synonym: "SXI1" RELATED ABBREVIATION [OMIM:300087] -synonym: "X INACTIVATION, FAMILIAL SKEWED, 1" RELATED [OMIM:300087] -synonym: "X inactivation, familial skewed, 1" EXACT CLINGEN_LABEL [] -synonym: "X-inactivation, familial skewed" EXACT [OMIM:300087, OMIM:genemap2] -synonym: "X-inactivation, familial skewed, 1" EXACT [OMIM:300087] +synonym: "SXI1" RELATED ABBREVIATION [] +synonym: "X INACTIVATION, FAMILIAL SKEWED, 1" RELATED [] +synonym: "X inactivation, familial skewed, 1" EXACT CLINGEN_LABEL [OMIM:300087] +synonym: "X-inactivation, familial skewed" EXACT [] +synonym: "X-inactivation, familial skewed, 1" EXACT [] xref: MEDGEN:338394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564716 {source="MONDO:equivalentTo"} xref: OMIM:300087 {source="MONDO:equivalentTo"} @@ -497005,9 +497099,9 @@ consider: HP:0001274 [Term] id: MONDO:0026426 name: X inactivation, familial skewed, 2 -synonym: "SXI2" RELATED ABBREVIATION [OMIM:300179] -synonym: "X INACTIVATION, FAMILIAL SKEWED, 2" RELATED [OMIM:300179] -synonym: "X-inactivation, familial skewed, 2" EXACT [OMIM:300179] +synonym: "SXI2" RELATED ABBREVIATION [] +synonym: "X INACTIVATION, FAMILIAL SKEWED, 2" RELATED [] +synonym: "X-inactivation, familial skewed, 2" EXACT [] xref: MEDGEN:335376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564572 {source="MONDO:equivalentTo"} xref: OMIM:300179 {source="MONDO:equivalentTo"} @@ -497019,9 +497113,9 @@ id: MONDO:0026720 name: mitochondrial complex 1 deficiency, nuclear type 12 subset: gard_rare {source="GARD:15283", source="MONDO:GARD"} subset: rare -synonym: "MC1DN12" RELATED ABBREVIATION [OMIM:301020] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12" RELATED [OMIM:301020] -synonym: "mitochondrial complex i deficiency, nuclear type 12, X-linked recessive" EXACT [OMIM:301020, OMIM:genemap2] +synonym: "MC1DN12" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12" RELATED [] +synonym: "mitochondrial complex i deficiency, nuclear type 12, X-linked recessive" EXACT [] xref: DOID:0112099 {source="MONDO:equivalentTo"} xref: GARD:15283 {source="MONDO:GARD"} xref: MEDGEN:1648278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497040,8 +497134,8 @@ id: MONDO:0026721 name: mitochondrial complex 1 deficiency, nuclear type 30 subset: gard_rare {source="GARD:15284", source="MONDO:GARD"} subset: rare -synonym: "MC1DN30" RELATED ABBREVIATION [OMIM:301021] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30" RELATED [OMIM:301021] +synonym: "MC1DN30" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30" RELATED [] xref: DOID:0112098 {source="MONDO:equivalentTo"} xref: GARD:15284 {source="MONDO:GARD"} xref: MEDGEN:1648313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497058,9 +497152,9 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o id: MONDO:0026722 name: Mullegama-Klein-Martinez syndrome subset: otar {source="MONDO:OTAR"} -synonym: "MKMS" RELATED ABBREVIATION [OMIM:301022] -synonym: "MULLEGAMA-KLEIN-MARTINEZ SYNDROME" RELATED [OMIM:301022] -synonym: "Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities" RELATED [OMIM:301022] +synonym: "MKMS" RELATED ABBREVIATION [] +synonym: "MULLEGAMA-KLEIN-MARTINEZ SYNDROME" RELATED [] +synonym: "Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities" RELATED [] xref: DOID:0111845 {source="MONDO:equivalentTo"} xref: MEDGEN:1683985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301022 {source="MONDO:equivalentTo"} @@ -497074,10 +497168,10 @@ name: intellectual developmental disorder, X-linked 108 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108" RELATED [OMIM:301024] -synonym: "intellectual developmental disorder, X-linked 108, X-linked recessive" EXACT [OMIM:301024, OMIM:genemap2] -synonym: "Mental Retardation, X-Linked 108" RELATED [OMIM:301024] -synonym: "MRX108" RELATED ABBREVIATION [OMIM:301024] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108" RELATED [] +synonym: "intellectual developmental disorder, X-linked 108, X-linked recessive" EXACT [] +synonym: "Mental Retardation, X-Linked 108" RELATED [] +synonym: "MRX108" RELATED ABBREVIATION [] xref: DOID:0111844 {source="MONDO:equivalentTo"} xref: MEDGEN:1680544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301024 {source="MONDO:equivalentTo"} @@ -497091,9 +497185,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0026724 name: Paganini-Miozzo syndrome synonym: "mental retardation, X-Linked, syndromic, Paganini-Miozzo type" EXACT DEPRECATED [OMIM:301025] -synonym: "MRXSPM" RELATED ABBREVIATION [OMIM:301025] -synonym: "PAGANINI-MIOZZO SYNDROME" RELATED [OMIM:301025] -synonym: "Paganini-Miozzo syndrome, X-linked recessive" EXACT [OMIM:301025, OMIM:genemap2] +synonym: "MRXSPM" RELATED ABBREVIATION [] +synonym: "PAGANINI-MIOZZO SYNDROME" RELATED [] +synonym: "Paganini-Miozzo syndrome, X-linked recessive" EXACT [] xref: DOID:0111843 {source="MONDO:equivalentTo"} xref: MEDGEN:1683361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301025 {source="MONDO:equivalentTo"} @@ -497109,8 +497203,8 @@ id: MONDO:0026726 name: nephrotic syndrome, type 20 subset: gard_rare {source="GARD:15285", source="MONDO:GARD"} subset: rare -synonym: "NEPHROTIC SYNDROME, TYPE 20" RELATED [OMIM:301028] -synonym: "NPHS20" RELATED ABBREVIATION [OMIM:301028] +synonym: "NEPHROTIC SYNDROME, TYPE 20" RELATED [] +synonym: "NPHS20" RELATED ABBREVIATION [] xref: DOID:0070357 {source="MONDO:equivalentTo"} xref: GARD:15285 {source="MONDO:GARD"} xref: MEDGEN:1678854 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497126,9 +497220,9 @@ id: MONDO:0026727 name: Shukla-Vernon syndrome subset: gard_rare {source="GARD:18511", source="MONDO:GARD"} subset: rare -synonym: "SHUKLA-VERNON SYNDROME" RELATED [OMIM:301029] -synonym: "Shukla-Vernon syndrome, X-linked recessive" EXACT [OMIM:301029, OMIM:genemap2] -synonym: "SHUVER" RELATED ABBREVIATION [OMIM:301029] +synonym: "SHUKLA-VERNON SYNDROME" RELATED [] +synonym: "Shukla-Vernon syndrome, X-linked recessive" EXACT [] +synonym: "SHUVER" RELATED ABBREVIATION [] xref: DOID:0111841 {source="MONDO:equivalentTo"} xref: GARD:18511 {source="MONDO:GARD"} xref: MEDGEN:1674076 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497143,9 +497237,9 @@ id: MONDO:0026729 name: congenital disorder of glycosylation, type ICC subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CDG1CC" RELATED ABBREVIATION [OMIM:301031] -synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc" RELATED [OMIM:301031] -synonym: "congenital disorder of glycosylation, type Icc, X-linked recessive" EXACT [OMIM:301031, OMIM:genemap2] +synonym: "CDG1CC" RELATED ABBREVIATION [] +synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc" RELATED [] +synonym: "congenital disorder of glycosylation, type Icc, X-linked recessive" EXACT [] xref: DOID:0111839 {source="MONDO:equivalentTo"} xref: MEDGEN:1684742 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301031 {source="MONDO:equivalentTo"} @@ -497165,11 +497259,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Basilicata-Akhtar syndrome" EXACT [OMIM:301032] -synonym: "Basilicata-Akhtar syndrome, X-linked dominant" EXACT [OMIM:301032, OMIM:genemap2] -synonym: "Mental Retardation, X-Linked, Syndromic 36" RELATED [OMIM:301032] -synonym: "Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type" RELATED [OMIM:301032] -synonym: "MRXSBA" RELATED ABBREVIATION [OMIM:301032] +synonym: "Basilicata-Akhtar syndrome" EXACT [DOID:0111838, OMIM:301032] +synonym: "Basilicata-Akhtar syndrome, X-linked dominant" EXACT [] +synonym: "Mental Retardation, X-Linked, Syndromic 36" RELATED [] +synonym: "Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type" RELATED [] +synonym: "MRXSBA" RELATED ABBREVIATION [] xref: DOID:0111838 {source="MONDO:equivalentTo"} xref: MEDGEN:1684820 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301032 {source="MONDO:equivalentTo"} @@ -497187,8 +497281,8 @@ name: hypothyroidism, congenital, nongoitrous, 8 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CHNG8" RELATED ABBREVIATION [OMIM:301033] -synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8" RELATED [OMIM:301033] +synonym: "CHNG8" RELATED ABBREVIATION [] +synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8" RELATED [] xref: DOID:0111837 {source="MONDO:equivalentTo"} xref: MEDGEN:1684717 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301033 {source="MONDO:equivalentTo"} @@ -497205,9 +497299,9 @@ name: hypothyroidism, congenital, nongoitrous, 9 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CHNG9" RELATED ABBREVIATION [OMIM:301035] -synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9" RELATED [OMIM:301035] -synonym: "hypothyroidism, congenital, nongoitrous, 9, X-linked recessive" EXACT [OMIM:301035, OMIM:genemap2] +synonym: "CHNG9" RELATED ABBREVIATION [] +synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9" RELATED [] +synonym: "hypothyroidism, congenital, nongoitrous, 9, X-linked recessive" EXACT [] xref: DOID:0111835 {source="MONDO:equivalentTo"} xref: MEDGEN:1684807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301035 {source="MONDO:equivalentTo"} @@ -497226,10 +497320,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive" EXACT [OMIM:301039, OMIM:genemap2] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE" RELATED [OMIM:301039] -synonym: "Mental Retardation, X-Linked, With Marfanoid Habitus, 2" RELATED [OMIM:301039] -synonym: "MRXSHD" RELATED ABBREVIATION [OMIM:301039] +synonym: "intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type, X-linked recessive" EXACT [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE" RELATED [] +synonym: "Mental Retardation, X-Linked, With Marfanoid Habitus, 2" RELATED [] +synonym: "MRXSHD" RELATED ABBREVIATION [] xref: MEDGEN:1716269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301039 {source="MONDO:equivalentTo"} xref: UMLS:C5393302 {source="MEDGEN:1716269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497251,9 +497345,9 @@ name: Wieacker-Wolff syndrome, female-restricted subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED" RELATED [OMIM:301041] -synonym: "Wieacker-Wolff syndrome, female-restricted, X-linked dominant" EXACT [OMIM:301041, OMIM:genemap2] -synonym: "WRWFFR" RELATED ABBREVIATION [OMIM:301041] +synonym: "WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED" RELATED [] +synonym: "Wieacker-Wolff syndrome, female-restricted, X-linked dominant" EXACT [] +synonym: "WRWFFR" RELATED ABBREVIATION [] xref: MEDGEN:1715791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301041 {source="MONDO:equivalentTo"} xref: UMLS:C5393303 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1715791"} @@ -497268,9 +497362,9 @@ name: holoprosencephaly 13, X-linked subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HOLOPROSENCEPHALY 13, X-LINKED" RELATED [OMIM:301043] -synonym: "holoprosencephaly 13, X-linked, X-linked recessive, X-linked dominant" EXACT [OMIM:301043, OMIM:genemap2] -synonym: "HPE13" RELATED ABBREVIATION [OMIM:301043] +synonym: "HOLOPROSENCEPHALY 13, X-LINKED" RELATED [] +synonym: "holoprosencephaly 13, X-linked, X-linked recessive, X-linked dominant" EXACT [] +synonym: "HPE13" RELATED ABBREVIATION [] xref: DOID:0060954 {source="MONDO:equivalentTo"} xref: MEDGEN:1714826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301043 {source="MONDO:equivalentTo"} @@ -497289,10 +497383,10 @@ id: MONDO:0026765 name: congenital disorder of glycosylation, type IIr subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CDG IIr" RELATED [OMIM:301045] -synonym: "CDG2R" RELATED ABBREVIATION [OMIM:301045] -synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr" RELATED [OMIM:301045] -synonym: "congenital disorder of glycosylation, type IIr, X-linked recessive" EXACT [OMIM:301045, OMIM:genemap2] +synonym: "CDG IIr" RELATED [] +synonym: "CDG2R" RELATED ABBREVIATION [] +synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr" RELATED [] +synonym: "congenital disorder of glycosylation, type IIr, X-linked recessive" EXACT [] xref: MEDGEN:1717186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301045 {source="MONDO:equivalentTo"} xref: UMLS:C5393313 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1717186"} @@ -497305,11 +497399,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0026767 name: immunodeficiency 74, COVID-19-related, X-linked subset: otar {source="MONDO:OTAR"} -synonym: "IMD74" RELATED ABBREVIATION [OMIM:301051] -synonym: "IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED" RELATED [OMIM:301051] -synonym: "immunodeficiency 74, COVID19-related, X-linked, X-linked recessive" EXACT [OMIM:301051, OMIM:genemap2] -synonym: "respiratory insufficiency due to SARS-CoV-2 viral infection" RELATED [OMIM:301051] -synonym: "TLR7 deficiency" RELATED [OMIM:301051] +synonym: "IMD74" RELATED ABBREVIATION [] +synonym: "IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED" RELATED [] +synonym: "immunodeficiency 74, COVID19-related, X-linked, X-linked recessive" EXACT [] +synonym: "respiratory insufficiency due to SARS-CoV-2 viral infection" RELATED [] +synonym: "TLR7 deficiency" RELATED [] xref: DOID:0112063 {source="MONDO:equivalentTo"} xref: MEDGEN:1768360 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301051 {source="MONDO:equivalentTo"} @@ -497323,9 +497417,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0026768 name: obsolete warfarin sensitivity, X-linked comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "Coumarin Sensitivity, X-Linked" RELATED [OMIM:301052] -synonym: "Warfarin sensitivity" EXACT [OMIM:301052, OMIM:genemap2] -synonym: "WARFARIN SENSITIVITY, X-LINKED" RELATED [OMIM:301052] +synonym: "Coumarin Sensitivity, X-Linked" RELATED [] +synonym: "Warfarin sensitivity" EXACT [] +synonym: "WARFARIN SENSITIVITY, X-LINKED" RELATED [] xref: DOID:0080839 {source="MONDO:obsoleteEquivalent"} xref: OMIM:301052 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 @@ -497339,9 +497433,9 @@ name: developmental and epileptic encephalopathy, 85, with or without midline br subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE85, with or without midline brain defects" EXACT [OMIM:301044] -synonym: "developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant" EXACT [OMIM:301044, OMIM:genemap2] -synonym: "EIEE85" EXACT ABBREVIATION [OMIM:301044] +synonym: "DEE85, with or without midline brain defects" EXACT [] +synonym: "developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant" EXACT [] +synonym: "EIEE85" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 85, with or without midline brain defects" EXACT [OMIM:301044] xref: DOID:0070380 {source="MONDO:equivalentTo"} xref: MEDGEN:1708832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497363,9 +497457,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:596753"} subset: orphanet_rare {source="Orphanet:596753"} subset: rare -synonym: "vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome" EXACT [OMIM:301054] +synonym: "vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome" EXACT [NCIT:C181924] synonym: "VEXAS" EXACT ABBREVIATION [OMIM:301054] -synonym: "VEXAS syndrome, somatic" EXACT [OMIM:301054, OMIM:genemap2] +synonym: "VEXAS syndrome, somatic" EXACT [] xref: DOID:0080828 {source="MONDO:equivalentTo"} xref: GARD:15001 {source="MONDO:GARD"} xref: MEDGEN:1765785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497389,10 +497483,10 @@ replaced_by: MONDO:0020603 [Term] id: MONDO:0026856 name: obsolete homosexuality 1 -synonym: "HMS1" RELATED ABBREVIATION [OMIM:306995] -synonym: "HOMOSEXUALITY 1" RELATED [OMIM:306995] -synonym: "homosexuality, male" EXACT [OMIM:306995, OMIM:genemap2] -synonym: "Sexual Orientation, Male" RELATED [OMIM:306995] +synonym: "HMS1" RELATED ABBREVIATION [] +synonym: "HOMOSEXUALITY 1" RELATED [] +synonym: "homosexuality, male" EXACT [] +synonym: "Sexual Orientation, Male" RELATED [] xref: OMIM:306995 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -497459,8 +497553,8 @@ name: deafness, Y-linked 2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, y-linked 2, y-linked" NARROW [OMIM:400047, OMIM:genemap2] -synonym: "DFNY2" EXACT ABBREVIATION [OMIM:400047] +synonym: "deafness, y-linked 2, y-linked" NARROW [] +synonym: "DFNY2" EXACT ABBREVIATION [DOID:0111758, OMIM:400047] xref: DOID:0111758 {source="MONDO:equivalentTo"} xref: MEDGEN:1677048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:400047 {source="MONDO:equivalentTo"} @@ -497475,8 +497569,8 @@ name: mitochondrial complex 1 deficiency, mitochondrial type 1 def: "Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "MC1DM1" EXACT ABBREVIATION [OMIM:500014] -synonym: "mitochondrial complex I deficiency, mitochondrial type 1" EXACT [OMIM:500014] +synonym: "MC1DM1" EXACT ABBREVIATION [DOID:0112101, OMIM:500014] +synonym: "mitochondrial complex I deficiency, mitochondrial type 1" EXACT [] xref: DOID:0112101 {source="MONDO:equivalentTo"} xref: MEDGEN:1648371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:500014 {source="MONDO:equivalentTo"} @@ -497492,8 +497586,8 @@ id: MONDO:0027069 name: mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "MC5DM1" EXACT ABBREVIATION [OMIM:500015] -synonym: "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1" EXACT [OMIM:500015] +synonym: "MC5DM1" EXACT ABBREVIATION [DOID:0111748, OMIM:500015] +synonym: "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1" EXACT [] xref: DOID:0111748 {source="MONDO:equivalentTo"} xref: MEDGEN:477315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:500015 {source="MONDO:equivalentTo"} @@ -497517,8 +497611,8 @@ def: "A dyskeratosis congenita that has material basis in an autosomal recessive comment: OMIM includes this term with with DKCA2 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "DKCB4" EXACT ABBREVIATION [DOID:0070021, OMIM:613989] -synonym: "dyskeratosis congenita, autosomal recessive 4" EXACT [OMIM:613989] +synonym: "DKCB4" EXACT ABBREVIATION [DOID:0070021] +synonym: "dyskeratosis congenita, autosomal recessive 4" EXACT [] xref: DOID:0070021 {source="MONDO:equivalentTo"} xref: MEDGEN:462794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613989 {source="DOID:0070021", source="MONDO:includedEntryInOMIM"} @@ -497534,13 +497628,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "9q subtelomeric deletion syndrome" BROAD EXCLUDE [DOID:0070075] -synonym: "9q-syndrome" BROAD [DOID:0070075] -synonym: "chromosome 9q34.3 deletion syndrome" BROAD [DOID:0070075] -synonym: "Kleefstra syndrome" BROAD [DOID:0070075] -synonym: "Kleefstra syndrome 1" EXACT CLINGEN_LABEL [OMIM:610253] -synonym: "KLEFS1" BROAD ABBREVIATION [OMIM:610253] -synonym: "obsolete Kleefstra syndrome" RELATED EXCLUDE [DOID:0070075] +synonym: "9q subtelomeric deletion syndrome" BROAD EXCLUDE [] +synonym: "9q-syndrome" BROAD [] +synonym: "chromosome 9q34.3 deletion syndrome" BROAD [] +synonym: "Kleefstra syndrome" BROAD [] +synonym: "Kleefstra syndrome 1" EXACT CLINGEN_LABEL [DOID:0060352, OMIM:610253] +synonym: "KLEFS1" BROAD ABBREVIATION [] +synonym: "obsolete Kleefstra syndrome" RELATED EXCLUDE [] xref: DOID:0060352 {source="MONDO:equivalentTo"} xref: DOID:0070075 {source="MONDO:equivalentObsolete"} xref: MEDGEN:208639 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497571,9 +497665,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARCL2D" EXACT ABBREVIATION [DOID:0070129, OMIM:617403] -synonym: "autosomal recessive cutis laxa type IID" RELATED [DOID:0070129] -synonym: "cutis laxa, autosomal recessive, type 2D" RELATED [OMIM:617403] -synonym: "cutis laxa, autosomal recessive, type IID" RELATED [OMIM:617403] +synonym: "autosomal recessive cutis laxa type IID" RELATED [] +synonym: "cutis laxa, autosomal recessive, type 2D" RELATED [] +synonym: "cutis laxa, autosomal recessive, type IID" RELATED [] xref: DOID:0070129 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.8 {source="DOID:0070129"} xref: MEDGEN:1376619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497591,10 +497685,10 @@ def: "An autosomal recessive cutis laxa type II classic type characterized by ca subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ARCL2C" RELATED ABBREVIATION [OMIM:617402] -synonym: "autosomal recessive cutis laxa type IIC" RELATED [DOID:0070140] -synonym: "cutis laxa, autosomal recessive, type 2C" RELATED [OMIM:617402] -synonym: "cutis laxa, autosomal recessive, type IIC" RELATED [OMIM:617402] +synonym: "ARCL2C" RELATED ABBREVIATION [] +synonym: "autosomal recessive cutis laxa type IIC" RELATED [] +synonym: "cutis laxa, autosomal recessive, type 2C" RELATED [] +synonym: "cutis laxa, autosomal recessive, type IIC" RELATED [] xref: DOID:0070140 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.8 {source="DOID:0070140"} xref: MEDGEN:1385755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497667,15 +497761,15 @@ def: "Any congenital anomaly of kidney and urinary tract in which the cause of t subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CAKUT2" RELATED ABBREVIATION [DOID:0080207, OMIM:143400] +synonym: "CAKUT2" RELATED ABBREVIATION [] synonym: "congenital anomalies of kidney and urinary tract 2" EXACT [OMIM:143400] -synonym: "congenital anomalies of kidney and urinary tract type 2" EXACT [MONDORULE:1, OMIM:143400] +synonym: "congenital anomalies of kidney and urinary tract type 2" EXACT [MONDORULE:1] synonym: "congenital anomaly of kidney and urinary tract caused by mutation in TBX18" EXACT [MONDO:design_pattern] -synonym: "hydronephrosis due to Pujo" RELATED [OMIM:143400] -synonym: "multicystic renal dysplasia, bilateral" RELATED [OMIM:143400] -synonym: "pelviureteric junction obstruction" RELATED [OMIM:143400] +synonym: "hydronephrosis due to Pujo" RELATED [] +synonym: "multicystic renal dysplasia, bilateral" RELATED [] +synonym: "pelviureteric junction obstruction" RELATED [] synonym: "TBX18 congenital anomaly of kidney and urinary tract" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "ureteropelvic junction obstruction" RELATED [OMIM:143400] +synonym: "ureteropelvic junction obstruction" RELATED [] xref: DOID:0080207 {source="MONDO:equivalentTo"} xref: MEDGEN:1804316 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:143400 {source="MONDO:equivalentTo", source="DOID:0080207"} @@ -497707,7 +497801,7 @@ subset: gard_rare {source="GARD:16262", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ALS23" EXACT ABBREVIATION [OMIM:617839] -synonym: "amyotrophic lateral sclerosis 23" RELATED [OMIM:617839] +synonym: "amyotrophic lateral sclerosis 23" RELATED [] xref: DOID:0080225 {source="MONDO:equivalentTo"} xref: GARD:16262 {source="MONDO:GARD"} xref: MEDGEN:1645924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497797,10 +497891,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lung colloid adenocarcinoma" EXACT [NCIT:C45512] -synonym: "lung mucinous cystadenocarcinoma" EXACT [NCIT:C45512] -synonym: "lung mucinous cystic tumor of borderline malignancy" EXACT [NCIT:C45512] +synonym: "lung mucinous cystadenocarcinoma" EXACT [DOID:0080304, NCIT:C45512] +synonym: "lung mucinous cystic tumor of borderline malignancy" EXACT [] synonym: "lung mucinous cystic tumour of borderline malignancy" EXACT OMO:0003005 [] -synonym: "mucinous lung adenocarcinoma" RELATED [DOID:0080303] +synonym: "mucinous lung adenocarcinoma" RELATED [] xref: DOID:0080303 {source="MONDO:equivalentTo"} xref: DOID:0080304 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MEDGEN:313370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -497990,7 +498084,7 @@ subset: gard_rare {source="GARD:16293", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PAPA8" RELATED ABBREVIATION [OMIM:618123] +synonym: "PAPA8" RELATED ABBREVIATION [] synonym: "polydactyly, postaxial, type A8" EXACT [OMIM:618123] xref: GARD:16293 {source="MONDO:GARD"} xref: MEDGEN:1648405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498005,7 +498099,7 @@ name: peripheral neuropathy, autosomal recessive, with or without impaired intel subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} synonym: "peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" EXACT [OMIM:618124] -synonym: "PNRIID" RELATED ABBREVIATION [OMIM:618124] +synonym: "PNRIID" RELATED ABBREVIATION [] xref: MEDGEN:1648480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618124 {source="MONDO:equivalentTo"} xref: UMLS:C4748283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648480"} @@ -498019,7 +498113,7 @@ name: Liddle syndrome 3 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Liddle syndrome 3" EXACT [OMIM:618126] -synonym: "LIDLS3" RELATED ABBREVIATION [OMIM:618126] +synonym: "LIDLS3" RELATED ABBREVIATION [] xref: MEDGEN:1648443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618126 {source="MONDO:equivalentTo"} xref: UMLS:C4748292 {source="MEDGEN:1648443", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498031,10 +498125,10 @@ name: muscular dystrophy, limb-girdle, autosomal dominant 4 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "calpain-3-related LGMD D4" EXACT [Orphanet:565909] -synonym: "calpain-3-related limb-girdle muscular dystrophy D4" EXACT [MONDO:0035433] +synonym: "calpain-3-related LGMD D4" EXACT [] +synonym: "calpain-3-related limb-girdle muscular dystrophy D4" EXACT [MONDO:0035433, Orphanet:565909] synonym: "LGMD type D4" EXACT [Orphanet:565909] -synonym: "LGMD1I" EXACT [Orphanet:565909] +synonym: "LGMD1I" EXACT ABBREVIATION [Orphanet:565909] synonym: "LGMDD4" EXACT ABBREVIATION [OMIM:618129] synonym: "limb-girdle muscular dystrophy type D4" EXACT [Orphanet:565909] synonym: "muscular dystrophy, limb-girdle, autosomal dominant 4" EXACT [OMIM:618129] @@ -498060,8 +498154,8 @@ subset: ordo_disorder {source="Orphanet:542301"} subset: orphanet_rare {source="Orphanet:542301"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD58" RELATED ABBREVIATION [OMIM:618131] -synonym: "immunodeficiency 58" EXACT [OMIM:618131] +synonym: "IMD58" RELATED ABBREVIATION [] +synonym: "immunodeficiency 58" EXACT [DOID:0111984, OMIM:618131] xref: DOID:0111984 {source="MONDO:equivalentTo"} xref: GARD:17981 {source="MONDO:GARD"} xref: MEDGEN:1648422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498084,11 +498178,11 @@ subset: gard_rare {source="GARD:16294", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "LGMD-POMGNT2 related myopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/50061/] -synonym: "MDDGC8" RELATED ABBREVIATION [OMIM:618135] -synonym: "muscular dystrophy, limb-girdle, autosomal recessive 24" RELATED [OMIM:618135] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8" EXACT [OMIM:618135, OMIM:genemap2] -synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8" RELATED [OMIM:618135] -synonym: "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related" RELATED [OMIM:618135] +synonym: "MDDGC8" RELATED ABBREVIATION [] +synonym: "muscular dystrophy, limb-girdle, autosomal recessive 24" RELATED [] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8" EXACT [DOID:0112382] +synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8" RELATED [] +synonym: "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related" RELATED [] xref: DOID:0112382 {source="MONDO:equivalentTo"} xref: GARD:16294 {source="MONDO:GARD"} xref: MEDGEN:1648468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498110,7 +498204,7 @@ subset: orphanet_rare {source="Orphanet:565837"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "laminin subunit alpha 2-related limb-girdle muscular dystrophy R23" EXACT [Orphanet:565837] -synonym: "LGMDR23" RELATED ABBREVIATION [OMIM:618138] +synonym: "LGMDR23" RELATED ABBREVIATION [] synonym: "muscular dystrophy, limb-girdle, autosomal recessive 23" EXACT [OMIM:618138] xref: GARD:22270 {source="MONDO:GARD"} xref: MEDGEN:1648462 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498130,8 +498224,8 @@ subset: gard_rare {source="GARD:18151", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness, autosomal dominant 74" NARROW [OMIM:618140, OMIM:genemap2] -synonym: "DFNA74" NARROW ABBREVIATION [OMIM:618140] +synonym: "deafness, autosomal dominant 74" NARROW [] +synonym: "DFNA74" NARROW ABBREVIATION [] xref: DOID:0112165 {source="MONDO:equivalentTo"} xref: GARD:18151 {source="MONDO:GARD"} xref: MEDGEN:1648467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498147,9 +498241,9 @@ name: developmental and epileptic encephalopathy, 67 subset: gard_rare {source="GARD:16295", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE67" EXACT ABBREVIATION [OMIM:618141] -synonym: "developmental and epileptic encephalopathy 67" EXACT [OMIM:618141, OMIM:genemap2] -synonym: "EIEE67" EXACT ABBREVIATION [OMIM:618141] +synonym: "DEE67" EXACT ABBREVIATION [DOID:0112203, OMIM:618141] +synonym: "developmental and epileptic encephalopathy 67" EXACT [DOID:0112203, OMIM:618141] +synonym: "EIEE67" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 67" EXACT [OMIM:618141] xref: DOID:0112203 {source="MONDO:equivalentTo"} xref: GARD:16295 {source="MONDO:GARD"} @@ -498166,9 +498260,9 @@ name: glycosylphosphatidylinositol biosynthesis defect 18 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "developmental and epileptic encephalopathy 95" EXACT [OMIM:618143, OMIM:genemap2] +synonym: "developmental and epileptic encephalopathy 95" EXACT [DOID:0070382, OMIM:618143] synonym: "glycosylphosphatidylinositol biosynthesis defect 18" EXACT [OMIM:618143] -synonym: "GPIBD18" RELATED ABBREVIATION [OMIM:618143] +synonym: "GPIBD18" RELATED ABBREVIATION [] xref: DOID:0070382 {source="MONDO:equivalentTo"} xref: MEDGEN:1648478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618143 {source="MONDO:equivalentTo"} @@ -498184,8 +498278,8 @@ name: Usher syndrome, type 4 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "USH4" RELATED ABBREVIATION [OMIM:618144] -synonym: "Usher syndrome, type IV" EXACT [OMIM:618144] +synonym: "USH4" RELATED ABBREVIATION [] +synonym: "Usher syndrome, type IV" EXACT [] xref: MEDGEN:1648315 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618144 {source="MONDO:equivalentTo"} xref: UMLS:C4748364 {source="MEDGEN:1648315", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498198,8 +498292,8 @@ name: hearing loss, autosomal recessive 111 subset: gard_rare {source="GARD:22659", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 111" NARROW [OMIM:618145, OMIM:genemap2] -synonym: "DFNB111" NARROW ABBREVIATION [OMIM:618145] +synonym: "deafness, autosomal recessive 111" NARROW [] +synonym: "DFNB111" NARROW ABBREVIATION [] xref: DOID:0111640 {source="MONDO:equivalentTo"} xref: GARD:22659 {source="MONDO:GARD"} xref: MEDGEN:1648423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498214,9 +498308,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0029143 name: intellectual developmental disorder with hypertelorism and distinctive facies subset: otar {source="MONDO:OTAR"} -synonym: "chromosome 14q32 deletion syndrome" RELATED [OMIM:618147] -synonym: "IDDHDF" RELATED ABBREVIATION [OMIM:618147] -synonym: "INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES" RELATED [OMIM:618147] +synonym: "chromosome 14q32 deletion syndrome" RELATED [] +synonym: "IDDHDF" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES" RELATED [] xref: MEDGEN:1648403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618147 {source="MONDO:equivalentTo"} xref: UMLS:C4748381 {source="MEDGEN:1648403", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498227,12 +498321,12 @@ id: MONDO:0029144 name: extraoral halitosis due to methanethiol oxidase deficiency subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "EHMTO" RELATED ABBREVIATION [OMIM:618148] -synonym: "EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY" RELATED [OMIM:618148] -synonym: "extraoral halitosis due to MTO deficiency" EXACT [OMIM:618148, OMIM:genemap2] -synonym: "extraoral halitosis with dimethylsulfoxiduria" RELATED [OMIM:618148] -synonym: "METHANETHIOL Oxidase Deficiency" RELATED [OMIM:618148] -synonym: "MTO Deficiency" RELATED [OMIM:618148] +synonym: "EHMTO" RELATED ABBREVIATION [] +synonym: "EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY" RELATED [] +synonym: "extraoral halitosis due to MTO deficiency" EXACT [] +synonym: "extraoral halitosis with dimethylsulfoxiduria" RELATED [] +synonym: "METHANETHIOL Oxidase Deficiency" RELATED [] +synonym: "MTO Deficiency" RELATED [] xref: MEDGEN:1648340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618148 {source="MONDO:equivalentTo"} xref: UMLS:C4748387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648340"} @@ -498247,9 +498341,9 @@ id: MONDO:0029145 name: orofacial cleft 8 subset: gard_rare {source="GARD:18308", source="MONDO:GARD"} subset: rare -synonym: "Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8" RELATED [OMIM:618149] -synonym: "OFC8" RELATED ABBREVIATION [OMIM:618149] -synonym: "OROFACIAL CLEFT 8" RELATED [OMIM:618149] +synonym: "Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8" RELATED [] +synonym: "OFC8" RELATED ABBREVIATION [] +synonym: "OROFACIAL CLEFT 8" RELATED [] xref: DOID:0080401 {source="MONDO:equivalentTo"} xref: GARD:18308 {source="MONDO:GARD"} xref: MEDGEN:377541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498269,8 +498363,8 @@ id: MONDO:0029147 name: spermatogenic failure 33 subset: gard_rare {source="GARD:18406", source="MONDO:GARD"} subset: rare -synonym: "SPERMATOGENIC FAILURE 33" RELATED [OMIM:618152] -synonym: "SPGF33" RELATED ABBREVIATION [OMIM:618152] +synonym: "SPERMATOGENIC FAILURE 33" RELATED [] +synonym: "SPGF33" RELATED ABBREVIATION [] xref: DOID:0111915 {source="MONDO:equivalentTo"} xref: GARD:18406 {source="MONDO:GARD"} xref: MEDGEN:1648473 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498284,8 +498378,8 @@ id: MONDO:0029148 name: spermatogenic failure 34 subset: gard_rare {source="GARD:18407", source="MONDO:GARD"} subset: rare -synonym: "SPERMATOGENIC FAILURE 34" RELATED [OMIM:618153] -synonym: "SPGF34" RELATED ABBREVIATION [OMIM:618153] +synonym: "SPERMATOGENIC FAILURE 34" RELATED [] +synonym: "SPGF34" RELATED ABBREVIATION [] xref: DOID:0111911 {source="MONDO:equivalentTo"} xref: GARD:18407 {source="MONDO:GARD"} xref: MEDGEN:1648297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498362,9 +498456,9 @@ intersection_of: predisposes_towards MONDO:0005260 ! autism [Term] id: MONDO:0030005 name: epilepsy, early-onset, with or without developmental delay -synonym: "EPEDD" EXACT ABBREVIATION [OMIM:618832] -synonym: "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY" EXACT [OMIM:618832] -synonym: "epilepsy, early-onset, with or without developmental delay" EXACT [OMIM:618832] +synonym: "EPEDD" EXACT ABBREVIATION [] +synonym: "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY" EXACT [] +synonym: "epilepsy, early-onset, with or without developmental delay" EXACT [] xref: DOID:0070471 {source="MONDO:equivalentTo"} xref: MEDGEN:1845576 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618832 {source="MONDO:equivalentTo"} @@ -498382,9 +498476,9 @@ subset: ordo_disorder {source="Orphanet:570491"} subset: orphanet_rare {source="Orphanet:570491"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40" EXACT [OMIM:618835] -synonym: "combined oxidative phosphorylation deficiency 40" EXACT [OMIM:618835] -synonym: "COXPD40" EXACT ABBREVIATION [OMIM:618835] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40" EXACT [DOID:0112117, OMIM:618835] +synonym: "combined oxidative phosphorylation deficiency 40" EXACT [DOID:0112117, OMIM:618835] +synonym: "COXPD40" EXACT ABBREVIATION [DOID:0112117, OMIM:618835] xref: DOID:0112117 {source="MONDO:equivalentTo"} xref: GARD:18006 {source="MONDO:GARD"} xref: MEDGEN:1714731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498400,9 +498494,9 @@ name: combined oxidative phosphorylation deficiency 41 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41" EXACT [OMIM:618838] -synonym: "combined oxidative phosphorylation deficiency 41" EXACT [OMIM:618838] -synonym: "COXPD41" EXACT ABBREVIATION [OMIM:618838] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41" EXACT [DOID:0112119, OMIM:618838] +synonym: "combined oxidative phosphorylation deficiency 41" EXACT [DOID:0112119, OMIM:618838] +synonym: "COXPD41" EXACT ABBREVIATION [DOID:0112119, OMIM:618838] xref: DOID:0112119 {source="MONDO:equivalentTo"} xref: MEDGEN:1711853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618838 {source="MONDO:equivalentTo"} @@ -498415,9 +498509,9 @@ name: combined oxidative phosphorylation deficiency 42 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42" EXACT [OMIM:618839] -synonym: "combined oxidative phosphorylation deficiency 42" EXACT [OMIM:618839] -synonym: "COXPD42" EXACT ABBREVIATION [OMIM:618839] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42" EXACT [DOID:0112118, OMIM:618839] +synonym: "combined oxidative phosphorylation deficiency 42" EXACT [DOID:0112118, OMIM:618839] +synonym: "COXPD42" EXACT ABBREVIATION [DOID:0112118, OMIM:618839] xref: DOID:0112118 {source="MONDO:equivalentTo"} xref: MEDGEN:1709379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618839 {source="MONDO:equivalentTo"} @@ -498432,8 +498526,8 @@ subset: gard_rare {source="GARD:16386", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "alopecia-intellectual disability syndrome 4" EXACT [OMIM:618840] -synonym: "ALOPECIA-MENTAL RETARDATION SYNDROME 4" EXACT [OMIM:618840] -synonym: "alopecia-mental retardation syndrome 4" EXACT DEPRECATED [OMIM:618840] +synonym: "ALOPECIA-MENTAL RETARDATION SYNDROME 4" EXACT [DOID:0080950, OMIM:618840] +synonym: "alopecia-mental retardation syndrome 4" EXACT DEPRECATED [DOID:0080950, OMIM:618840] synonym: "APMR4" EXACT ABBREVIATION [OMIM:618840] xref: DOID:0080950 {source="MONDO:equivalentTo"} xref: GARD:16386 {source="MONDO:GARD"} @@ -498475,9 +498569,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0030013 name: immunodeficiency 66 subset: otar {source="MONDO:OTAR"} -synonym: "IMD66" EXACT ABBREVIATION [OMIM:618847] -synonym: "IMMUNODEFICIENCY 66" EXACT [OMIM:618847] -synonym: "immunodeficiency 66" EXACT [OMIM:618847] +synonym: "IMD66" EXACT ABBREVIATION [DOID:0111998, OMIM:618847] +synonym: "IMMUNODEFICIENCY 66" EXACT [DOID:0111998, OMIM:618847] +synonym: "immunodeficiency 66" EXACT [DOID:0111998, OMIM:618847] xref: DOID:0111998 {source="MONDO:equivalentTo"} xref: MEDGEN:1717128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618847 {source="MONDO:equivalentTo"} @@ -498526,9 +498620,9 @@ name: combined oxidative phosphorylation deficiency 43 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43" EXACT [OMIM:618851] -synonym: "combined oxidative phosphorylation deficiency 43" EXACT [OMIM:618851] -synonym: "COXPD43" EXACT ABBREVIATION [OMIM:618851] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43" EXACT [DOID:0112116, OMIM:618851] +synonym: "combined oxidative phosphorylation deficiency 43" EXACT [DOID:0112116, OMIM:618851] +synonym: "COXPD43" EXACT ABBREVIATION [DOID:0112116, OMIM:618851] xref: DOID:0112116 {source="MONDO:equivalentTo"} xref: MEDGEN:1718250 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618851 {source="MONDO:equivalentTo"} @@ -498556,8 +498650,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ANAUXETIC DYSPLASIA 3" EXACT [OMIM:618853] -synonym: "anauxetic dysplasia 3" EXACT [OMIM:618853] +synonym: "ANAUXETIC DYSPLASIA 3" EXACT [DOID:0080963, OMIM:618853] +synonym: "anauxetic dysplasia 3" EXACT [DOID:0080963, OMIM:618853] synonym: "ANXD3" EXACT ABBREVIATION [OMIM:618853] xref: DOID:0080963 {source="MONDO:equivalentTo"} xref: MEDGEN:1718444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498572,9 +498666,9 @@ name: combined oxidative phosphorylation deficiency 44 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44" EXACT [OMIM:618855] -synonym: "combined oxidative phosphorylation deficiency 44" EXACT [OMIM:618855] -synonym: "COXPD44" EXACT ABBREVIATION [OMIM:618855] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44" EXACT [DOID:0070424, OMIM:618855] +synonym: "combined oxidative phosphorylation deficiency 44" EXACT [DOID:0070424, OMIM:618855] +synonym: "COXPD44" EXACT ABBREVIATION [DOID:0070424, OMIM:618855] xref: DOID:0070424 {source="MONDO:equivalentTo"} xref: MEDGEN:1718899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618855 {source="MONDO:equivalentTo"} @@ -498616,8 +498710,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0030026 name: retinal dystrophy with leukodystrophy synonym: "RDLKD" EXACT ABBREVIATION [OMIM:618863] -synonym: "RETINAL DYSTROPHY WITH LEUKODYSTROPHY" EXACT [OMIM:618863] -synonym: "retinal dystrophy with leukodystrophy" EXACT [OMIM:618863] +synonym: "RETINAL DYSTROPHY WITH LEUKODYSTROPHY" EXACT [DOID:0080946, OMIM:618863] +synonym: "retinal dystrophy with leukodystrophy" EXACT [DOID:0080946, OMIM:618863] xref: DOID:0080946 {source="MONDO:equivalentTo"} xref: MEDGEN:1715138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618863 {source="MONDO:equivalentTo"} @@ -498685,9 +498779,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LIS10" EXACT ABBREVIATION [OMIM:618873] -synonym: "LISSENCEPHALY 10" EXACT [OMIM:618873] -synonym: "lissencephaly 10" EXACT [OMIM:618873] +synonym: "LIS10" EXACT ABBREVIATION [DOID:0112229, OMIM:618873] +synonym: "LISSENCEPHALY 10" EXACT [DOID:0112229, OMIM:618873] +synonym: "lissencephaly 10" EXACT [DOID:0112229, OMIM:618873] xref: DOID:0112229 {source="MONDO:equivalentTo"} xref: MEDGEN:1719546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618873 {source="MONDO:equivalentTo"} @@ -498698,7 +498792,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030032 name: obsolete chromosome 17q11.2 duplication syndrome, 1.4-mb -synonym: "chromosome 17q11.2 duplication syndrome, 1.4-mb, isolated cases" EXACT [OMIM:618874, OMIM:genemap2] +synonym: "chromosome 17q11.2 duplication syndrome, 1.4-mb, isolated cases" EXACT [] property_value: IAO:0000231 MONDO:TermsMerged property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4337" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -498709,7 +498803,7 @@ replaced_by: MONDO:0015350 id: MONDO:0030033 name: seizures, early-onset, with neurodegeneration and brain calcifications subset: otar {source="MONDO:OTAR"} -synonym: "seizures, early-onset, with neurodegeneration and brain calcification" EXACT [OMIM:618875, OMIM:genemap2] +synonym: "seizures, early-onset, with neurodegeneration and brain calcification" EXACT [] synonym: "SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS" EXACT [OMIM:618875] synonym: "seizures, early-onset, with neurodegeneration and brain calcifications" EXACT [OMIM:618875] synonym: "SENEBAC" EXACT ABBREVIATION [OMIM:618875] @@ -498801,7 +498895,7 @@ name: proteinuria, chronic benign subset: otar {source="MONDO:OTAR"} synonym: "PROCHOB" EXACT ABBREVIATION [OMIM:618884] synonym: "PROTEINURIA, CHRONIC BENIGN" EXACT [OMIM:618884] -synonym: "proteinuria, chronic benign" EXACT [OMIM:618884, OMIM:genemap2] +synonym: "proteinuria, chronic benign" EXACT [OMIM:618884] xref: MEDGEN:1714078 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618884 {source="MONDO:equivalentTo"} xref: UMLS:C5394384 {source="MEDGEN:1714078", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498852,7 +498946,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Liberfarb syndrome" EXACT [OMIM:618889, Orphanet:589442] synonym: "LIBF" EXACT ABBREVIATION [OMIM:618889] -synonym: "short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome" EXACT [MONDO:0035635] +synonym: "short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome" EXACT [MONDO:0035635, Orphanet:589442] synonym: "spondyloepimetaphyseal dysplasia, Liberfarb Type" EXACT [OMIM:618889] xref: GARD:22350 {source="MONDO:GARD"} xref: MEDGEN:1709796 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498901,8 +498995,8 @@ subset: ordo_disorder {source="Orphanet:659672"} subset: orphanet_rare {source="Orphanet:659672"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HARDEROPORPHYRIA" EXACT ABBREVIATION [OMIM:618892] -synonym: "harderoporphyria" EXACT [OMIM:618892] +synonym: "HARDEROPORPHYRIA" EXACT ABBREVIATION [icd11.foundation:1664486132, OMIM:618892, Orphanet:659672] +synonym: "harderoporphyria" EXACT [icd11.foundation:1664486132, OMIM:618892, Orphanet:659672] synonym: "HARPO" EXACT ABBREVIATION [OMIM:618892] xref: icd11.foundation:1664486132 {source="MONDO:equivalentTo"} xref: MEDGEN:137981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498919,8 +499013,8 @@ relationship: RO:0004001 http://identifiers.org/hgnc/2321 {source="OMIM:618892"} id: MONDO:0030049 name: 46,xx sex reversal 5 subset: otar {source="MONDO:OTAR"} -synonym: "46,XX SEX REVERSAL 5" EXACT [OMIM:618901] -synonym: "46,xx sex reversal 5" EXACT [OMIM:618901] +synonym: "46,XX SEX REVERSAL 5" EXACT [DOID:0080943, OMIM:618901] +synonym: "46,xx sex reversal 5" EXACT [DOID:0080943, OMIM:618901] synonym: "SRXX5" EXACT ABBREVIATION [OMIM:618901] xref: DOID:0080943 {source="MONDO:equivalentTo"} xref: MEDGEN:1713956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498936,9 +499030,9 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18522", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IDDALDS" EXACT ABBREVIATION [OMIM:618906] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES" EXACT [OMIM:618906] -synonym: "intellectual developmental disorder with autistic features and language delay, with or without seizures" EXACT [OMIM:618906] +synonym: "IDDALDS" EXACT ABBREVIATION [DOID:0081430, OMIM:618906] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES" EXACT [DOID:0081430, OMIM:618906] +synonym: "intellectual developmental disorder with autistic features and language delay, with or without seizures" EXACT [DOID:0081430, OMIM:618906] xref: DOID:0081430 {source="MONDO:equivalentTo"} xref: GARD:18522 {source="MONDO:GARD"} xref: MEDGEN:1715081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -498962,9 +499056,9 @@ subset: gard_rare {source="GARD:16391", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE86" EXACT ABBREVIATION [OMIM:618910] -synonym: "developmental and epileptic encephalopathy 86" EXACT [OMIM:618910, OMIM:genemap2] -synonym: "EIEE86" EXACT ABBREVIATION [OMIM:618910] +synonym: "DEE86" EXACT ABBREVIATION [DOID:0112220, OMIM:618910] +synonym: "developmental and epileptic encephalopathy 86" EXACT [DOID:0112220, OMIM:618910] +synonym: "EIEE86" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86" EXACT [OMIM:618910] synonym: "epileptic encephalopathy, early infantile, 86" EXACT [OMIM:618910] xref: DOID:0112220 {source="MONDO:equivalentTo"} @@ -498982,8 +499076,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "sorbitol dehydrogenase deficiency" EXACT [OMIM:618912] -synonym: "sorbitol dehydrogenase deficiency with peripheral neuropathy" EXACT [OMIM:618912] -synonym: "SORDD" EXACT ABBREVIATION [OMIM:618912] +synonym: "sorbitol dehydrogenase deficiency with peripheral neuropathy" EXACT [DOID:0081427, OMIM:618912] +synonym: "SORDD" EXACT ABBREVIATION [DOID:0081427] xref: DOID:0081427 {source="MONDO:equivalentTo"} xref: MEDGEN:1714781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618912 {source="MONDO:equivalentTo"} @@ -498998,8 +499092,8 @@ name: Fanconi renotubular syndrome 5 subset: gard_rare {source="GARD:16392", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "FANCONI RENOTUBULAR SYNDROME 5" EXACT [OMIM:618913] -synonym: "Fanconi renotubular syndrome 5" EXACT [OMIM:618913] +synonym: "FANCONI RENOTUBULAR SYNDROME 5" EXACT [DOID:0080761, OMIM:618913] +synonym: "Fanconi renotubular syndrome 5" EXACT [DOID:0080761, OMIM:618913] synonym: "Fanconi Renotubular Syndrome, Acadian Variant" EXACT [OMIM:618913] synonym: "FRTS5" EXACT ABBREVIATION [OMIM:618913] xref: DOID:0080761 {source="MONDO:equivalentTo"} @@ -499033,8 +499127,8 @@ subset: gard_rare {source="GARD:18155", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness, autosomal dominant 77" NARROW [OMIM:618915, OMIM:genemap2] -synonym: "DFNA77" NARROW ABBREVIATION [OMIM:618915] +synonym: "deafness, autosomal dominant 77" NARROW [] +synonym: "DFNA77" NARROW ABBREVIATION [] xref: DOID:0112168 {source="MONDO:equivalentTo"} xref: GARD:18155 {source="MONDO:GARD"} xref: MEDGEN:1709284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499051,9 +499145,9 @@ subset: gard_rare {source="GARD:16393", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE87" EXACT ABBREVIATION [OMIM:618916] -synonym: "developmental and epileptic encephalopathy 87" EXACT [OMIM:618916, OMIM:genemap2] -synonym: "EIEE87" EXACT ABBREVIATION [OMIM:618916] +synonym: "DEE87" EXACT ABBREVIATION [DOID:0112221, OMIM:618916] +synonym: "developmental and epileptic encephalopathy 87" EXACT [DOID:0112221, OMIM:618916] +synonym: "EIEE87" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87" EXACT [OMIM:618916] synonym: "epileptic encephalopathy, early infantile, 87" EXACT [OMIM:618916] xref: DOID:0112221 {source="MONDO:equivalentTo"} @@ -499126,7 +499220,7 @@ subset: gard_rare {source="GARD:18524", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "NEDSHBA" EXACT ABBREVIATION [OMIM:618922] -synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities" EXACT [OMIM:618922, OMIM:genemap2] +synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES" EXACT [OMIM:618922] synonym: "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" EXACT [OMIM:618922] xref: GARD:18524 {source="MONDO:GARD"} @@ -499161,8 +499255,8 @@ id: MONDO:0030065 name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome subset: otar {source="MONDO:OTAR"} synonym: "ACOGS" EXACT ABBREVIATION [OMIM:618929] -synonym: "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME" EXACT [OMIM:618929] -synonym: "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" EXACT [OMIM:618929] +synonym: "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME" EXACT [DOID:0080948, OMIM:618929] +synonym: "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" EXACT [DOID:0080948, OMIM:618929] xref: DOID:0080948 {source="MONDO:equivalentTo"} xref: MEDGEN:1718475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618929 {source="MONDO:equivalentTo"} @@ -499178,7 +499272,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CGD5" EXACT ABBREVIATION [OMIM:618935] -synonym: "chronic granulomatous disease 5, autosomal recessive" EXACT [OMIM:618935, OMIM:genemap2] +synonym: "chronic granulomatous disease 5, autosomal recessive" EXACT [] synonym: "GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5" EXACT [OMIM:618935] synonym: "granulomatous disease, chronic, autosomal recessive, 5" EXACT [OMIM:618935] synonym: "Granulomatous Disease, Chronic, Due to Cybc1 Deficiency" EXACT [OMIM:618935] @@ -499199,9 +499293,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "TCS4" EXACT ABBREVIATION [OMIM:618939] -synonym: "TREACHER COLLINS SYNDROME 4" EXACT [OMIM:618939] -synonym: "treacher collins syndrome 4" EXACT [OMIM:618939] -synonym: "Treacher-Collins syndrome 4" EXACT [OMIM:618939, OMIM:genemap2] +synonym: "TREACHER COLLINS SYNDROME 4" EXACT [DOID:0080792, OMIM:618939] +synonym: "treacher collins syndrome 4" EXACT [DOID:0080792, OMIM:618939] +synonym: "Treacher-Collins syndrome 4" EXACT [] xref: DOID:0080792 {source="MONDO:equivalentTo"} xref: GARD:16396 {source="MONDO:GARD"} xref: MEDGEN:1712280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499247,9 +499341,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0030071 name: retinitis pigmentosa 89 subset: otar {source="MONDO:OTAR"} -synonym: "RETINITIS PIGMENTOSA 89" EXACT [OMIM:618955] -synonym: "retinitis pigmentosa 89" EXACT [OMIM:618955] -synonym: "RP89" EXACT ABBREVIATION [OMIM:618955] +synonym: "RETINITIS PIGMENTOSA 89" EXACT [DOID:0112146, OMIM:618955] +synonym: "retinitis pigmentosa 89" EXACT [DOID:0112146, OMIM:618955] +synonym: "RP89" EXACT ABBREVIATION [DOID:0112146, OMIM:618955] xref: DOID:0112146 {source="MONDO:equivalentTo"} xref: MEDGEN:1710499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618955 {source="MONDO:equivalentTo"} @@ -499264,9 +499358,9 @@ subset: gard_rare {source="GARD:16398", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE88" EXACT ABBREVIATION [OMIM:618959] -synonym: "developmental and epileptic encephalopathy 88" EXACT [OMIM:618959, OMIM:genemap2] -synonym: "EIEE88" EXACT ABBREVIATION [OMIM:618959] +synonym: "DEE88" EXACT ABBREVIATION [DOID:0112222, OMIM:618959] +synonym: "developmental and epileptic encephalopathy 88" EXACT [DOID:0112222, OMIM:618959] +synonym: "EIEE88" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88" EXACT [OMIM:618959] synonym: "epileptic encephalopathy, early infantile, 88" EXACT [OMIM:618959] xref: DOID:0112222 {source="MONDO:equivalentTo"} @@ -499289,7 +499383,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACOX1 upregulation" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40049/, PMID:37236006] synonym: "MITCH" EXACT ABBREVIATION [OMIM:618960] -synonym: "Mitchell syndrome" EXACT [OMIM:618960] +synonym: "Mitchell syndrome" EXACT [DOID:0070516, OMIM:618960, Orphanet:631248] xref: DOID:0070516 {source="MONDO:equivalentTo"} xref: MEDGEN:1714342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618960 {source="MONDO:equivalentTo"} @@ -499309,9 +499403,9 @@ subset: ordo_disorder {source="Orphanet:589435"} subset: orphanet_rare {source="Orphanet:589435"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SMDCD" EXACT ABBREVIATION [OMIM:618961] -synonym: "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY" EXACT [OMIM:618961] -synonym: "spondylometaphyseal dysplasia with corneal dystrophy" EXACT [OMIM:618961] +synonym: "SMDCD" EXACT ABBREVIATION [DOID:0112303, OMIM:618961] +synonym: "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY" EXACT [DOID:0112303, OMIM:618961] +synonym: "spondylometaphyseal dysplasia with corneal dystrophy" EXACT [DOID:0112303, OMIM:618961] xref: DOID:0112303 {source="MONDO:equivalentTo"} xref: GARD:18016 {source="MONDO:GARD"} xref: MEDGEN:1714019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499344,10 +499438,10 @@ subset: gard_rare {source="GARD:16388", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 1" EXACT [OMIM:618856] -synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 2" EXACT [OMIM:618856] -synonym: "diabetes mellitus, permanent neonatal 2" EXACT [OMIM:618856] -synonym: "diabetes, permanent neonatal 2, with or without neurologic features" EXACT [OMIM:618856, OMIM:genemap2] +synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 1" EXACT [] +synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 2" EXACT [] +synonym: "diabetes mellitus, permanent neonatal 2" EXACT [] +synonym: "diabetes, permanent neonatal 2, with or without neurologic features" EXACT [] synonym: "PNDM2" EXACT ABBREVIATION [OMIM:618856] xref: GARD:16388 {source="MONDO:GARD"} xref: MEDGEN:1713823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499364,10 +499458,10 @@ subset: gard_rare {source="GARD:16389", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 2" EXACT [OMIM:618857] -synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 3" EXACT [OMIM:618857] -synonym: "diabetes mellitus, permanent neonatal 3" EXACT [OMIM:618857] -synonym: "diabetes mellitus, permanent neonatal 3, with or without neurologic features" EXACT [OMIM:618857, OMIM:genemap2] +synonym: "Developmental Delay, Epilepsy, and Neonatal Diabetes 2" EXACT [] +synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 3" EXACT [] +synonym: "diabetes mellitus, permanent neonatal 3" EXACT [] +synonym: "diabetes mellitus, permanent neonatal 3, with or without neurologic features" EXACT [] synonym: "PNDM3" EXACT ABBREVIATION [OMIM:618857] xref: GARD:16389 {source="MONDO:GARD"} xref: MEDGEN:1717271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499384,8 +499478,8 @@ subset: gard_rare {source="GARD:16390", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 4" EXACT [OMIM:618858] -synonym: "diabetes mellitus, permanent neonatal 4" EXACT [OMIM:618858] +synonym: "DIABETES MELLITUS, PERMANENT NEONATAL 4" EXACT [] +synonym: "diabetes mellitus, permanent neonatal 4" EXACT [] synonym: "PNDM4" EXACT ABBREVIATION [OMIM:618858] xref: GARD:16390 {source="MONDO:GARD"} xref: MEDGEN:1711191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499404,9 +499498,9 @@ subset: orphanet_rare {source="Orphanet:570422"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "GALAC4" EXACT ABBREVIATION [OMIM:618881] -synonym: "Galactose Mutarotase Deficiency" EXACT [OMIM:618881] -synonym: "GALACTOSEMIA IV" EXACT [OMIM:618881] -synonym: "galactosemia iv" EXACT [OMIM:618881] +synonym: "Galactose Mutarotase Deficiency" EXACT [DOID:0060969, OMIM:618881, Orphanet:570422] +synonym: "GALACTOSEMIA IV" EXACT [] +synonym: "galactosemia iv" EXACT [] synonym: "GALM mutarotase deficiency" RELATED [https://orcid.org/0000-0002-9731-6356] xref: DOID:0060969 {source="MONDO:equivalentTo"} xref: GARD:18005 {source="MONDO:GARD"} @@ -499459,8 +499553,8 @@ subset: gard_rare {source="GARD:16397", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OCULOPHARYNGODISTAL MYOPATHY 2" EXACT [OMIM:618940] -synonym: "oculopharyngodistal myopathy 2" EXACT [OMIM:618940] +synonym: "OCULOPHARYNGODISTAL MYOPATHY 2" EXACT [DOID:0081298, OMIM:618940] +synonym: "oculopharyngodistal myopathy 2" EXACT [DOID:0081298, OMIM:618940] synonym: "OPDM2" EXACT ABBREVIATION [OMIM:618940] xref: DOID:0081298 {source="MONDO:equivalentTo"} xref: GARD:16397 {source="MONDO:GARD"} @@ -499478,7 +499572,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:613274"} subset: orphanet_rare {source="Orphanet:613274"} subset: rare -synonym: "PCH14" EXACT ABBREVIATION [OMIM:619301, Orphanet:613274] +synonym: "PCH14" EXACT ABBREVIATION [DOID:0112325, OMIM:619301, Orphanet:613274] synonym: "pontocerebellar hypoplasia, type 14" EXACT [OMIM:619301] xref: DOID:0112325 {source="MONDO:equivalentTo"} xref: GARD:18032 {source="MONDO:GARD"} @@ -499495,7 +499589,7 @@ name: pontocerebellar hypoplasia, type 15 subset: gard_rare {source="GARD:18563", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PCH15" EXACT ABBREVIATION [OMIM:619302] +synonym: "PCH15" EXACT ABBREVIATION [DOID:0112326, OMIM:619302] synonym: "pontocerebellar hypoplasia, type 15" EXACT [OMIM:619302] xref: DOID:0112326 {source="MONDO:equivalentTo"} xref: GARD:18563 {source="MONDO:GARD"} @@ -499511,7 +499605,7 @@ subset: gard_rare {source="GARD:16441", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PCH1E" EXACT ABBREVIATION [OMIM:619303] +synonym: "PCH1E" EXACT ABBREVIATION [DOID:0112330, OMIM:619303] synonym: "pontocerebellar hypoplasia, type 1E" EXACT [OMIM:619303] xref: DOID:0112330 {source="MONDO:equivalentTo"} xref: GARD:16441 {source="MONDO:GARD"} @@ -499527,7 +499621,7 @@ name: pontocerebellar hypoplasia, type 1F subset: gard_rare {source="GARD:16442", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PCH1F" EXACT ABBREVIATION [OMIM:619304] +synonym: "PCH1F" EXACT ABBREVIATION [DOID:0112331, OMIM:619304] synonym: "pontocerebellar hypoplasia, type 1F" EXACT [OMIM:619304] xref: DOID:0112331 {source="MONDO:equivalentTo"} xref: GARD:16442 {source="MONDO:GARD"} @@ -499542,7 +499636,7 @@ name: leukodystrophy, hypomyelinating, 21 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HLD21" EXACT ABBREVIATION [OMIM:619310] +synonym: "HLD21" EXACT ABBREVIATION [DOID:0070407, OMIM:619310] synonym: "leukodystrophy, hypomyelinating, 21" EXACT [OMIM:619310] xref: DOID:0070407 {source="MONDO:equivalentTo"} xref: MEDGEN:1778269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499556,7 +499650,7 @@ id: MONDO:0030266 name: immunodeficiency 80 with or without congenital cardiomyopathy def: "An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported." [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X, OMIM:619313] synonym: "IMD80" EXACT ABBREVIATION [OMIM:619313] -synonym: "immunodeficiency 80 with or without cardiomyopathy" EXACT [OMIM:619313, OMIM:genemap2] +synonym: "immunodeficiency 80 with or without cardiomyopathy" EXACT [] synonym: "immunodeficiency 80 with or without congenital cardiomyopathy" EXACT [OMIM:619313] synonym: "immunodeficiency with or without congenital cardiomyopathy" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X] synonym: "MCM10 deficiency" EXACT [OMIM:619313] @@ -499574,9 +499668,9 @@ name: developmental and epileptic encephalopathy 6B subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE6B" EXACT ABBREVIATION [OMIM:619317] -synonym: "developmental and epileptic encephalopathy 6B" EXACT [OMIM:619317] -synonym: "developmental and epileptic encephalopathy 6B, non-Dravet" EXACT [OMIM:619317, OMIM:genemap2] +synonym: "DEE6B" EXACT ABBREVIATION [DOID:0070379, OMIM:619317] +synonym: "developmental and epileptic encephalopathy 6B" EXACT [DOID:0070379, OMIM:619317] +synonym: "developmental and epileptic encephalopathy 6B, non-Dravet" EXACT [] xref: DOID:0070379 {source="MONDO:equivalentTo"} xref: MEDGEN:1779648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619317 {source="MONDO:equivalentTo"} @@ -499652,7 +499746,7 @@ name: angioedema, hereditary, 8 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "angioedema, hereditary, 8" EXACT [OMIM:619367] -synonym: "HAE8" EXACT [OMIM:619367] +synonym: "HAE8" EXACT ABBREVIATION [OMIM:619367] xref: MEDGEN:1780930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619367 {source="MONDO:equivalentTo"} xref: UMLS:C5543528 {source="MEDGEN:1780930", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499691,8 +499785,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030307 name: spermatogenic failure 55 -synonym: "spermatogenic failure 55" EXACT [OMIM:619380] -synonym: "SPGF55" EXACT ABBREVIATION [OMIM:619380] +synonym: "spermatogenic failure 55" EXACT [DOID:0112337, OMIM:619380] +synonym: "SPGF55" EXACT ABBREVIATION [DOID:0112337, OMIM:619380] xref: DOID:0112337 {source="MONDO:equivalentTo"} xref: MEDGEN:1781781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619380 {source="MONDO:equivalentTo"} @@ -499718,8 +499812,8 @@ id: MONDO:0030309 name: Leber hereditary optic neuropathy, autosomal recessive subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Leber hereditary optic neuropathy, autosomal recessive" EXACT [OMIM:619382] -synonym: "LHONAR" EXACT ABBREVIATION [OMIM:619382] +synonym: "Leber hereditary optic neuropathy, autosomal recessive" EXACT [OMIMPS:619382] +synonym: "LHONAR" EXACT ABBREVIATION [] xref: MEDGEN:1786310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:619382 {source="MONDO:equivalentTo"} xref: UMLS:C5543589 {source="MEDGEN:1786310", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499731,8 +499825,8 @@ id: MONDO:0030311 name: combined oxidative phosphorylation deficiency 52 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 52" EXACT [OMIM:619386] -synonym: "COXPD52" EXACT ABBREVIATION [OMIM:619386] +synonym: "combined oxidative phosphorylation deficiency 52" EXACT [DOID:0070425, OMIM:619386] +synonym: "COXPD52" EXACT ABBREVIATION [DOID:0070425, OMIM:619386] xref: DOID:0070425 {source="MONDO:equivalentTo"} xref: MEDGEN:1780479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619386 {source="MONDO:equivalentTo"} @@ -499748,7 +499842,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Barakat-Van Ham-Kaya syndrome" EXACT [OMIM:619389] synonym: "neurodevelopmental disorder with hypotonia and cerebellar ataxia" EXACT [OMIM:619389] -synonym: "SCAR29" EXACT ABBREVIATION [OMIM:619389] +synonym: "SCAR29" EXACT ABBREVIATION [DOID:0070410, OMIM:619389] synonym: "spinocerebellar ataxia, autosomal recessive 29" EXACT [OMIM:619389] xref: DOID:0070410 {source="MONDO:equivalentTo"} xref: MEDGEN:1788435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499761,7 +499855,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0030313 name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 synonym: "encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10" EXACT [OMIM:619396] -synonym: "herpes simplex encephalitis, susceptibility to, 7" RELATED [OMIM:619396] +synonym: "herpes simplex encephalitis, susceptibility to, 7" RELATED [] synonym: "IIAE10" EXACT ABBREVIATION [OMIM:619396] xref: MEDGEN:1782836 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619396 {source="MONDO:equivalentTo"} @@ -499776,9 +499870,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0030314 name: inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive synonym: "IBD31" EXACT ABBREVIATION [OMIM:619398] -synonym: "inflammatory bowel disease (infantile ulcerative colitis) 31" EXACT [OMIM:619398, OMIM:genemap2] +synonym: "inflammatory bowel disease (infantile ulcerative colitis) 31" EXACT [] synonym: "inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive" EXACT [OMIM:619398] -synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED [OMIM:619398] +synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED [] xref: MEDGEN:1783277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619398 {source="MONDO:equivalentTo"} xref: UMLS:C5444224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1783277"} @@ -499819,7 +499913,7 @@ name: spinocerebellar ataxia, autosomal recessive 30 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SCAR30" EXACT ABBREVIATION [OMIM:619405] +synonym: "SCAR30" EXACT ABBREVIATION [DOID:0070411, OMIM:619405] synonym: "spinocerebellar ataxia, autosomal recessive 30" EXACT [OMIM:619405] xref: DOID:0070411 {source="MONDO:equivalentTo"} xref: MEDGEN:1778853 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499835,7 +499929,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SCAR31" EXACT ABBREVIATION [OMIM:619422] +synonym: "SCAR31" EXACT ABBREVIATION [DOID:0070412, OMIM:619422] synonym: "spinocerebellar ataxia, autosomal recessive 31" EXACT [OMIM:619422] xref: DOID:0070412 {source="MONDO:equivalentTo"} xref: MEDGEN:1786855 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499850,7 +499944,7 @@ id: MONDO:0030326 name: mitochondrial dna depletion syndrome 16B (neuroophthalmic type) subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)" EXACT [OMIM:619425] +synonym: "mitochondrial dna depletion syndrome 16B (neuroophthalmic type)" EXACT [DOID:0070447, OMIM:619425] synonym: "MTDPS16B" EXACT ABBREVIATION [OMIM:619425] xref: DOID:0070447 {source="MONDO:equivalentTo"} xref: MEDGEN:1780329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -499955,7 +500049,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARCL2E" EXACT ABBREVIATION [OMIM:619451] synonym: "cutis laxa, autosomal recessive, type 2E" EXACT [OMIM:619451] -synonym: "cutis laxa, autosomal recessive, type IIE" EXACT [OMIM:619451, OMIM:genemap2] +synonym: "cutis laxa, autosomal recessive, type IIE" EXACT [] xref: MEDGEN:1794154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619451 {source="MONDO:equivalentTo"} xref: UMLS:C5561944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794154"} @@ -500037,7 +500131,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "facioscapulohumeral muscular dystrophy 3, digenic" EXACT [OMIM:619477] -synonym: "FSHD3" EXACT ABBREVIATION [OMIM:619477] +synonym: "FSHD3" EXACT ABBREVIATION [DOID:0060917, OMIM:619477] xref: DOID:0060917 {source="MONDO:equivalentTo"} xref: MEDGEN:1794169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619477 {source="MONDO:equivalentTo"} @@ -500051,8 +500145,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "facioscapulohumeral muscular dystrophy 4, digenic" EXACT [OMIM:619478] -synonym: "facioscapulohumeral muscular dystrophy 4, digenic, digenic dominant" EXACT [OMIM:619478, OMIM:genemap2] -synonym: "FSHD4" EXACT ABBREVIATION [OMIM:619478] +synonym: "facioscapulohumeral muscular dystrophy 4, digenic, digenic dominant" EXACT [] +synonym: "FSHD4" EXACT ABBREVIATION [DOID:0060918, OMIM:619478] xref: DOID:0060918 {source="MONDO:equivalentTo"} xref: MEDGEN:1794170 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619478 {source="MONDO:equivalentTo"} @@ -500181,7 +500275,7 @@ def: "An autosomal recessive disorder characterized by hypomyelination, microcep subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "combined oxidative phosphorylation deficiency due to C2orf69 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X] -synonym: "COXPD53" EXACT ABBREVIATION [OMIM:619423] +synonym: "COXPD53" EXACT ABBREVIATION [DOID:0070426, OMIM:619423] xref: DOID:0070426 {source="MONDO:equivalentTo"} xref: MEDGEN:1779083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619423 {source="MONDO:equivalentTo"} @@ -500241,7 +500335,7 @@ is_a: MONDO:0021094 {source="OMIM:619510"} ! immunodeficiency disease [Term] id: MONDO:0030430 name: spermatogenic failure 56 -synonym: "SPGF56" EXACT ABBREVIATION [OMIM:619515] +synonym: "SPGF56" EXACT ABBREVIATION [DOID:0112336, OMIM:619515] xref: DOID:0112336 {source="MONDO:equivalentTo"} xref: MEDGEN:1794188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619515 {source="MONDO:equivalentTo"} @@ -500255,7 +500349,7 @@ name: Charcot-Marie-Tooth disease, axonal, type 2FF subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Charcot-Marie-Tooth neuropathy" EXACT [OMIM:619519] +synonym: "Charcot-Marie-Tooth neuropathy" EXACT [] synonym: "CMT2FF" EXACT ABBREVIATION [OMIM:619519] xref: MEDGEN:1794191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619519 {source="MONDO:equivalentTo"} @@ -500306,7 +500400,7 @@ name: pontocerebellar hypoplasia, type 16 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PCH16" EXACT ABBREVIATION [OMIM:619527] +synonym: "PCH16" EXACT ABBREVIATION [DOID:0112333, OMIM:619527] xref: DOID:0112333 {source="MONDO:equivalentTo"} xref: MEDGEN:1794197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619527 {source="MONDO:equivalentTo"} @@ -500317,7 +500411,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030439 name: spermatogenic failure 57 -synonym: "SPGF57" EXACT ABBREVIATION [OMIM:619528] +synonym: "SPGF57" EXACT ABBREVIATION [DOID:0112338, OMIM:619528] xref: DOID:0112338 {source="MONDO:equivalentTo"} xref: MEDGEN:1794198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619528 {source="MONDO:equivalentTo"} @@ -500355,7 +500449,7 @@ name: hearing loss, autosomal recessive 118, with cochlear aplasia subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 118, with cochlear aplasia" NARROW [OMIM:619553] +synonym: "deafness, autosomal recessive 118, with cochlear aplasia" NARROW [] synonym: "DFNB118" EXACT ABBREVIATION [OMIM:619553] xref: MEDGEN:1794206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619553 {source="MONDO:equivalentTo"} @@ -500369,7 +500463,7 @@ name: developmental and epileptic encephalopathy 97 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE97" EXACT ABBREVIATION [OMIM:619561] +synonym: "DEE97" EXACT ABBREVIATION [DOID:0070383, OMIM:619561] xref: DOID:0070383 {source="MONDO:equivalentTo"} xref: MEDGEN:1794209 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619561 {source="MONDO:equivalentTo"} @@ -500396,7 +500490,7 @@ name: dystonia 31 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DYT31" EXACT ABBREVIATION [OMIM:619565] +synonym: "DYT31" EXACT ABBREVIATION [DOID:0060938, OMIM:619565] xref: DOID:0060938 {source="MONDO:equivalentTo"} xref: MEDGEN:1794211 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619565 {source="MONDO:equivalentTo"} @@ -500459,7 +500553,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030463 name: spermatogenic failure 58 -synonym: "SPGF58" EXACT ABBREVIATION [OMIM:619585] +synonym: "SPGF58" EXACT ABBREVIATION [DOID:0112352, OMIM:619585] xref: DOID:0112352 {source="MONDO:equivalentTo"} xref: MEDGEN:1794218 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619585 {source="MONDO:equivalentTo"} @@ -500496,7 +500590,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE98" EXACT ABBREVIATION [OMIM:619605] +synonym: "DEE98" EXACT ABBREVIATION [DOID:0070384, OMIM:619605] xref: DOID:0070384 {source="MONDO:equivalentTo"} xref: MEDGEN:1794227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619605 {source="MONDO:equivalentTo"} @@ -500511,7 +500605,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE99" EXACT ABBREVIATION [OMIM:619606] +synonym: "DEE99" EXACT ABBREVIATION [DOID:0070385, OMIM:619606] xref: DOID:0070385 {source="MONDO:equivalentTo"} xref: MEDGEN:1794228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619606 {source="MONDO:equivalentTo"} @@ -500564,7 +500658,7 @@ name: hearing loss, autosomal recessive 119 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 119" NARROW [OMIM:619615] +synonym: "deafness, autosomal recessive 119" NARROW [] synonym: "DFNB119" EXACT ABBREVIATION [OMIM:619615] xref: MEDGEN:1794233 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619615 {source="MONDO:equivalentTo"} @@ -500579,8 +500673,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:631079"} subset: orphanet_rare {source="Orphanet:631079"} subset: rare -synonym: "autosomal recessive spastic paraplegia type 84" EXACT [MONDO:0858989] -synonym: "SPG84" EXACT ABBREVIATION [OMIM:619621] +synonym: "autosomal recessive spastic paraplegia type 84" EXACT [MONDO:0858989, Orphanet:631079] +synonym: "SPG84" EXACT ABBREVIATION [DOID:0112347, OMIM:619621] xref: DOID:0112347 {source="MONDO:equivalentTo"} xref: MEDGEN:1794235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619621 {source="MONDO:equivalentTo"} @@ -500624,7 +500718,7 @@ name: dystonia 32 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DYT32" EXACT ABBREVIATION [OMIM:619637] +synonym: "DYT32" EXACT ABBREVIATION [DOID:0060939, OMIM:619637] xref: DOID:0060939 {source="MONDO:equivalentTo"} xref: MEDGEN:1794239 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619637 {source="MONDO:equivalentTo"} @@ -500658,7 +500752,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030490 name: oocyte maturation defect 11 -synonym: "OOMD11" EXACT ABBREVIATION [OMIM:619643] +synonym: "OOMD11" EXACT ABBREVIATION [] xref: MEDGEN:1794243 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619643 {source="MONDO:equivalentTo"} xref: UMLS:C5562033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794243"} @@ -500680,7 +500774,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030492 name: spermatogenic failure 59 -synonym: "SPGF59" EXACT ABBREVIATION [OMIM:619645] +synonym: "SPGF59" EXACT ABBREVIATION [DOID:0112357, OMIM:619645] xref: DOID:0112357 {source="MONDO:equivalentTo"} xref: MEDGEN:1794244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619645 {source="MONDO:equivalentTo"} @@ -500690,7 +500784,7 @@ is_a: MONDO:0004983 {source="DOID:0112357", source="OMIM:619645"} ! spermatogeni [Term] id: MONDO:0030493 name: spermatogenic failure 60 -synonym: "SPGF60" EXACT ABBREVIATION [OMIM:619646] +synonym: "SPGF60" EXACT ABBREVIATION [DOID:0112355, OMIM:619646] xref: DOID:0112355 {source="MONDO:equivalentTo"} xref: MEDGEN:1794245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619646 {source="MONDO:equivalentTo"} @@ -500784,7 +500878,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030507 name: spermatogenic failure 61 -synonym: "SPGF61" EXACT ABBREVIATION [OMIM:619672] +synonym: "SPGF61" EXACT ABBREVIATION [DOID:0112350, OMIM:619672] xref: DOID:0112350 {source="MONDO:equivalentTo"} xref: MEDGEN:1794258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619672 {source="MONDO:equivalentTo"} @@ -500795,7 +500889,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030508 name: spermatogenic failure 62 -synonym: "SPGF62" EXACT ABBREVIATION [OMIM:619673] +synonym: "SPGF62" EXACT ABBREVIATION [DOID:0112351, OMIM:619673] xref: DOID:0112351 {source="MONDO:equivalentTo"} xref: MEDGEN:1794259 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619673 {source="MONDO:equivalentTo"} @@ -500809,8 +500903,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:631082"} subset: orphanet_rare {source="Orphanet:631082"} subset: rare -synonym: "autosomal recessive spastic paraplegia type 85" EXACT [MONDO:0858990] -synonym: "SPG85" EXACT ABBREVIATION [OMIM:619686] +synonym: "autosomal recessive spastic paraplegia type 85" EXACT [MONDO:0858990, Orphanet:631082] +synonym: "SPG85" EXACT ABBREVIATION [DOID:0112345, OMIM:619686] xref: DOID:0112345 {source="MONDO:equivalentTo"} xref: MEDGEN:1794263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619686 {source="MONDO:equivalentTo"} @@ -500846,7 +500940,7 @@ name: leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunct subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HLD23" EXACT ABBREVIATION [OMIM:619688] +synonym: "HLD23" EXACT ABBREVIATION [DOID:0070397, OMIM:619688] xref: DOID:0070397 {source="MONDO:equivalentTo"} xref: MEDGEN:1794284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619688 {source="MONDO:equivalentTo"} @@ -500857,7 +500951,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030515 name: spermatogenic failure 63 -synonym: "SPGF63" EXACT ABBREVIATION [OMIM:619689] +synonym: "SPGF63" EXACT ABBREVIATION [DOID:0112356, OMIM:619689] xref: DOID:0112356 {source="MONDO:equivalentTo"} xref: MEDGEN:1794265 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619689 {source="MONDO:equivalentTo"} @@ -500908,7 +501002,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030522 name: spermatogenic failure 64 -synonym: "SPGF64" EXACT ABBREVIATION [OMIM:619696] +synonym: "SPGF64" EXACT ABBREVIATION [DOID:0112353, OMIM:619696] xref: DOID:0112353 {source="MONDO:equivalentTo"} xref: MEDGEN:1794272 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619696 {source="MONDO:equivalentTo"} @@ -500919,7 +501013,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030523 name: oocyte maturation defect 12 -synonym: "OOMD12" EXACT ABBREVIATION [OMIM:619697] +synonym: "OOMD12" EXACT ABBREVIATION [] xref: MEDGEN:1794273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619697 {source="MONDO:equivalentTo"} xref: UMLS:C5562063 {source="MONDO:equivalentTo", source="MEDGEN:1794273", source="MONDO:MEDGEN"} @@ -501001,7 +501095,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030531 name: spermatogenic failure 65 -synonym: "SPGF65" EXACT ABBREVIATION [OMIM:619712] +synonym: "SPGF65" EXACT ABBREVIATION [DOID:0112354, OMIM:619712] xref: DOID:0112354 {source="MONDO:equivalentTo"} xref: MEDGEN:1794277 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619712 {source="MONDO:equivalentTo"} @@ -501086,7 +501180,7 @@ id: MONDO:0030543 name: combined oxidative phosphorylation deficiency 54 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "COXPD54" EXACT ABBREVIATION [OMIM:619737] +synonym: "COXPD54" EXACT ABBREVIATION [DOID:0070427, OMIM:619737] xref: DOID:0070427 {source="MONDO:equivalentTo"} xref: MEDGEN:1812715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619737 {source="MONDO:equivalentTo"} @@ -501100,9 +501194,9 @@ name: hearing loss, autosomal dominant 81 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal dominant 81" NARROW [OMIM:619500] +synonym: "deafness, autosomal dominant 81" NARROW [] synonym: "DFNA81" EXACT ABBREVIATION [OMIM:619500] -synonym: "hearing loss, autosomal dominant 81" EXACT ABBREVIATION [OMIM:619500] +synonym: "hearing loss, autosomal dominant 81" EXACT ABBREVIATION [] xref: MEDGEN:1794182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619500 {source="MONDO:equivalentTo"} xref: UMLS:C5561972 {source="MEDGEN:1794182", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -501128,8 +501222,8 @@ name: Klebsiella pneumonia def: "An pneumonia caused by infection with Klebsiella." [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Klebsiella caused pneumonia" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "pneumonia caused by Klebsiella pneumoniae" RELATED [] -synonym: "pneumonia due to Klebsiella pneumoniae" EXACT [ICD9CM:482.0] -synonym: "pneumonia due to Klebsiella pneumoniae (disorder)" EXACT [] +synonym: "pneumonia due to Klebsiella pneumoniae" EXACT [DOID:13272, ICD10CM:J15.0, ICD9CM:482.0] +synonym: "pneumonia due to Klebsiella pneumoniae (disorder)" EXACT [DOID:13272] xref: DOID:13272 {source="MONDO:equivalentTo"} xref: ICD10CM:J15.0 {source="MONDO:equivalentTo", source="DOID:13272"} xref: ICD9:482.0 {source="MONDO:equivalentTo", source="DOID:13272", source="MONDO:i2s"} @@ -501163,8 +501257,8 @@ def: "A variant of Wilms tumor of the kidney characterized by the presence of cy subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cystic partially differentiated nephroblastoma" EXACT [NCIT:C6897] -synonym: "malignant cystic nephroma" EXACT [NCIT:C6897] -synonym: "malignant multilocular cystic nephroma" EXACT [NCIT:C6897] +synonym: "malignant cystic nephroma" EXACT [DOID:7571, NCIT:C6897] +synonym: "malignant multilocular cystic nephroma" EXACT [DOID:7571, NCIT:C6897] xref: DOID:7571 {source="MONDO:equivalentTo"} xref: ICDO:8959/1 {source="NCIT:C6897"} xref: ICDO:8959/3 {source="NCIT:C6897"} @@ -501200,7 +501294,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0030608 name: interstitial lung disease 1 synonym: "ILD1" EXACT ABBREVIATION [OMIM:619611] -synonym: "interstitial lung disease 1" EXACT [OMIM:619611] +synonym: "interstitial lung disease 1" EXACT [DOID:0060941, OMIM:619611] xref: DOID:0060941 {source="MONDO:equivalentTo"} xref: MEDGEN:1794231 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619611 {source="MONDO:equivalentTo"} @@ -501241,7 +501335,7 @@ id: MONDO:0030634 name: leukoencephalopathy, hereditary diffuse, with spheroids 2 synonym: "HDLS2" EXACT ABBREVIATION [OMIM:619661] synonym: "leukoencephalopathy, hereditary diffuse, with spheroids 2" EXACT [OMIM:619661] -synonym: "leukoencephalopathy, hereditary diffuse, with spheroids, swedish IIA" EXACT [OMIM:619661] +synonym: "leukoencephalopathy, hereditary diffuse, with spheroids, swedish IIA" EXACT [] xref: MEDGEN:1794254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619661 {source="MONDO:equivalentTo"} xref: UMLS:C5562044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1794254"} @@ -501280,9 +501374,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:631085"} subset: orphanet_rare {source="Orphanet:631085"} subset: rare -synonym: "autosomal recessive spastic paraplegia type 86" EXACT [MONDO:0858991] +synonym: "autosomal recessive spastic paraplegia type 86" EXACT [MONDO:0858991, Orphanet:631085] synonym: "spastic paraplegia 86, autosomal recessive" EXACT [OMIM:619735] -synonym: "SPG86" EXACT ABBREVIATION [OMIM:619735] +synonym: "SPG86" EXACT ABBREVIATION [DOID:0112342, OMIM:619735] xref: DOID:0112342 {source="MONDO:equivalentTo"} xref: MEDGEN:1801286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619735 {source="MONDO:equivalentTo"} @@ -501302,7 +501396,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0030674 name: Teebi hypertelorism syndrome 2 synonym: "TBHS2" EXACT ABBREVIATION [OMIM:619736] -synonym: "Teebi hypertelorism syndrome 2" EXACT [OMIM:619736] +synonym: "Teebi hypertelorism syndrome 2" EXACT [DOID:0081074, OMIM:619736] xref: DOID:0081074 {source="MONDO:equivalentTo"} xref: MEDGEN:1809276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619736 {source="MONDO:equivalentTo"} @@ -501330,8 +501424,8 @@ name: Charcot-Marie-Tooth disease, demyelinating, IIA 1I subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Charcot-Marie-Tooth disease neuropathy, IIA 1I" EXACT [OMIM:619742] -synonym: "Charcot-Marie-Tooth disease, demyelinating, IIA 1I" EXACT [OMIM:619742] +synonym: "Charcot-Marie-Tooth disease neuropathy, IIA 1I" EXACT [] +synonym: "Charcot-Marie-Tooth disease, demyelinating, IIA 1I" EXACT [] synonym: "CMT1I" EXACT ABBREVIATION [OMIM:619742] xref: MEDGEN:1811493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619742 {source="MONDO:equivalentTo"} @@ -501401,8 +501495,8 @@ name: Charcot-Marie-Tooth disease, demyelinating, IIA 1H subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Charcot-Marie-Tooth disease, demyelinating, IIA 1H" EXACT [OMIM:619764] -synonym: "Charcot-Marie-Tooth neuropathy, IIA 1H" EXACT [OMIM:619764] +synonym: "Charcot-Marie-Tooth disease, demyelinating, IIA 1H" EXACT [] +synonym: "Charcot-Marie-Tooth neuropathy, IIA 1H" EXACT [] synonym: "CMT1H" EXACT ABBREVIATION [OMIM:619764] synonym: "hereditary motor and sensory neuropathy, 1h" EXACT [OMIM:619764] synonym: "neuropathy, hereditary, with or without age-related macular degeneration" EXACT [OMIM:619764] @@ -501419,7 +501513,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PFBMFT6" EXACT ABBREVIATION [OMIM:619767] -synonym: "pulmonary fibrosis and/or bone marrow failure, telomere-related, 6" EXACT [OMIM:619767] +synonym: "pulmonary fibrosis and/or bone marrow failure, telomere-related, 6" EXACT [] xref: MEDGEN:1805650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619767 {source="MONDO:equivalentTo"} xref: UMLS:C5676927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1805650"} @@ -501458,8 +501552,8 @@ name: developmental and epileptic encephalopathy 100 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE100" EXACT ABBREVIATION [OMIM:619777] -synonym: "developmental and epileptic encephalopathy 100" EXACT [OMIM:619777] +synonym: "DEE100" EXACT ABBREVIATION [DOID:0070386, OMIM:619777] +synonym: "developmental and epileptic encephalopathy 100" EXACT [DOID:0070386, OMIM:619777] xref: DOID:0070386 {source="MONDO:equivalentTo"} xref: MEDGEN:1809351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619777 {source="MONDO:equivalentTo"} @@ -501472,7 +501566,7 @@ id: MONDO:0030696 name: mitochondrial DNA depletion syndrome 20 (mngie type) subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "mitochondrial DNA depletion syndrome 20 (mngie type)" EXACT [OMIM:619780] +synonym: "mitochondrial DNA depletion syndrome 20 (mngie type)" EXACT [DOID:0070451, OMIM:619780] synonym: "mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related" EXACT [OMIM:619780] synonym: "MTDPS20" EXACT ABBREVIATION [OMIM:619780] xref: DOID:0070451 {source="MONDO:equivalentTo"} @@ -501615,8 +501709,8 @@ name: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive" EXACT DEPRECATED [OMIM:619789] -synonym: "CDA, IIA IIIB" EXACT DEPRECATED [OMIM:619789] +synonym: "anemia, congenital dyserythropoietic, IIA IIIB, autosomal recessive" EXACT DEPRECATED [] +synonym: "CDA, IIA IIIB" EXACT DEPRECATED [] synonym: "CDAN3B" EXACT ABBREVIATION [OMIM:619789] xref: MEDGEN:1800829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619789 {source="MONDO:equivalentTo"} @@ -501630,7 +501724,7 @@ name: oculopharyngodistal myopathy 4 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "oculopharyngodistal myopathy 4" EXACT [OMIM:619790] +synonym: "oculopharyngodistal myopathy 4" EXACT [DOID:0081300, OMIM:619790] synonym: "OPDM4" EXACT ABBREVIATION [OMIM:619790] xref: DOID:0081300 {source="MONDO:equivalentTo"} xref: MEDGEN:1809981 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -501645,7 +501739,7 @@ name: osteogenesis imperfecta, IIA 22 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "OI22" EXACT ABBREVIATION [OMIM:619795] -synonym: "osteogenesis imperfecta, IIA 22" EXACT [OMIM:619795] +synonym: "osteogenesis imperfecta, IIA 22" EXACT [] xref: MEDGEN:1801631 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619795 {source="MONDO:equivalentTo"} xref: UMLS:C5676943 {source="MEDGEN:1801631", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -501655,8 +501749,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030716 name: spermatogenic failure 66 -synonym: "spermatogenic failure 66" EXACT [OMIM:619799] -synonym: "SPGF66" EXACT ABBREVIATION [OMIM:619799] +synonym: "spermatogenic failure 66" EXACT [DOID:0070565, OMIM:619799] +synonym: "SPGF66" EXACT ABBREVIATION [DOID:0070565, OMIM:619799] xref: DOID:0070565 {source="MONDO:equivalentTo"} xref: MEDGEN:1806298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619799 {source="MONDO:equivalentTo"} @@ -501681,8 +501775,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030718 name: spermatogenic failure 67 -synonym: "spermatogenic failure 67" EXACT [OMIM:619803] -synonym: "SPGF67" EXACT ABBREVIATION [OMIM:619803] +synonym: "spermatogenic failure 67" EXACT [DOID:0070566, OMIM:619803] +synonym: "SPGF67" EXACT ABBREVIATION [DOID:0070566, OMIM:619803] xref: DOID:0070566 {source="MONDO:equivalentTo"} xref: MEDGEN:1804099 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619803 {source="MONDO:equivalentTo"} @@ -501695,7 +501789,7 @@ name: hearing loss, autosomal dominant 82 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal dominant 82" NARROW [OMIM:619804] +synonym: "deafness, autosomal dominant 82" NARROW [] synonym: "DFNA82" EXACT ABBREVIATION [OMIM:619804] xref: MEDGEN:1803416 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619804 {source="MONDO:equivalentTo"} @@ -501709,7 +501803,7 @@ name: trichomonal vulvovaginitis def: "An vulvovaginitis caused by infection with Trichomonas vaginalis." [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "leukorrhea vaginalis - trichomonal" RELATED [] synonym: "trichomonal leukorrhea" RELATED [] -synonym: "trichomonal vulvovaginitis" EXACT [] +synonym: "trichomonal vulvovaginitis" EXACT [icd11.foundation:517019329] synonym: "Trichomonas vaginalis caused vulvovaginitis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trichomonas vaginalis vulvovaginitis" EXACT [] xref: icd11.foundation:517019329 {source="MONDO:equivalentTo"} @@ -501727,8 +501821,8 @@ intersection_of: disease_has_inflammation_site UBERON:0000997 ! mammalian vulva [Term] id: MONDO:0030721 name: spermatogenic failure 68 -synonym: "spermatogenic failure 68" EXACT [OMIM:619805] -synonym: "SPGF68" EXACT ABBREVIATION [OMIM:619805] +synonym: "spermatogenic failure 68" EXACT [DOID:0070567, OMIM:619805] +synonym: "SPGF68" EXACT ABBREVIATION [DOID:0070567, OMIM:619805] xref: DOID:0070567 {source="MONDO:equivalentTo"} xref: MEDGEN:1812032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619805 {source="MONDO:equivalentTo"} @@ -501741,7 +501835,7 @@ name: hearing loss, autosomal dominant 83 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal dominant 83" NARROW [OMIM:619808] +synonym: "deafness, autosomal dominant 83" NARROW [] synonym: "DFNA83" EXACT ABBREVIATION [OMIM:619808] xref: MEDGEN:1812664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619808 {source="MONDO:equivalentTo"} @@ -501754,7 +501848,7 @@ name: hearing loss, autosomal dominant 84 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal dominant 84" NARROW [OMIM:619810] +synonym: "deafness, autosomal dominant 84" NARROW [] synonym: "DFNA84" EXACT ABBREVIATION [OMIM:619810] xref: MEDGEN:1801352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619810 {source="MONDO:equivalentTo"} @@ -501782,8 +501876,8 @@ name: developmental and epileptic encephalopathy 101 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE101" EXACT ABBREVIATION [OMIM:619814] -synonym: "developmental and epileptic encephalopathy 101" EXACT [OMIM:619814] +synonym: "DEE101" EXACT ABBREVIATION [DOID:0070387, OMIM:619814] +synonym: "developmental and epileptic encephalopathy 101" EXACT [DOID:0070387, OMIM:619814] xref: DOID:0070387 {source="MONDO:equivalentTo"} xref: MEDGEN:1805172 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619814 {source="MONDO:equivalentTo"} @@ -501794,8 +501888,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030729 name: Tessadori-van Haaften neurodevelopmental syndrome 1 -synonym: "Tessadori-van Haaften neurodevelopmental syndrome 1" EXACT [OMIM:619758] -synonym: "TEVANED1" EXACT ABBREVIATION [OMIM:619758] +synonym: "Tessadori-van Haaften neurodevelopmental syndrome 1" EXACT [] +synonym: "TEVANED1" EXACT ABBREVIATION [] xref: MEDGEN:1810348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619758 {source="MONDO:equivalentTo"} xref: UMLS:C5676922 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1810348"} @@ -501805,8 +501899,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030730 name: Tessadori-van Haaften neurodevelopmental syndrome 2 -synonym: "Tessadori-van Haaften neurodevelopmental syndrome 2" EXACT [OMIM:619759] -synonym: "TEVANED2" EXACT ABBREVIATION [OMIM:619759] +synonym: "Tessadori-van Haaften neurodevelopmental syndrome 2" EXACT [] +synonym: "TEVANED2" EXACT ABBREVIATION [] xref: MEDGEN:1803228 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619759 {source="MONDO:equivalentTo"} xref: UMLS:C5676923 {source="MEDGEN:1803228", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -501829,8 +501923,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030732 name: spermatogenic failure 69 -synonym: "spermatogenic failure 69" EXACT [OMIM:619826] -synonym: "SPGF69" EXACT ABBREVIATION [OMIM:619826] +synonym: "spermatogenic failure 69" EXACT [DOID:0070568, OMIM:619826] +synonym: "SPGF69" EXACT ABBREVIATION [DOID:0070568, OMIM:619826] xref: DOID:0070568 {source="MONDO:equivalentTo"} xref: MEDGEN:1811285 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619826 {source="MONDO:equivalentTo"} @@ -501841,8 +501935,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030733 name: spermatogenic failure 70 -synonym: "spermatogenic failure 70" EXACT [OMIM:619828] -synonym: "SPGF70" EXACT ABBREVIATION [OMIM:619828] +synonym: "spermatogenic failure 70" EXACT [DOID:0070569, OMIM:619828] +synonym: "SPGF70" EXACT ABBREVIATION [DOID:0070569, OMIM:619828] xref: DOID:0070569 {source="MONDO:equivalentTo"} xref: MEDGEN:1809945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619828 {source="MONDO:equivalentTo"} @@ -501872,7 +501966,7 @@ subset: rare synonym: "epidermolysis bullosa, junctional 2A, generalised intermediate" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, junctional 2A, generalized intermediate" EXACT [OMIM:619783] synonym: "epidermolysis bullosa, junctional 2A, intermediate" EXACT [OMIM:619783] -synonym: "epidermolysis bullosa, junctional 2A, non-herlitz IIA" EXACT [OMIM:619783] +synonym: "epidermolysis bullosa, junctional 2A, non-herlitz IIA" EXACT [] synonym: "JEB2A" EXACT ABBREVIATION [OMIM:619783] xref: MEDGEN:1807376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619783 {source="MONDO:equivalentTo"} @@ -501888,7 +501982,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "epidermolysis bullosa, junctional 2B, generalised severe" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, junctional 2B, generalized severe" EXACT [OMIM:619784] -synonym: "epidermolysis bullosa, junctional 2B, herlitz IIA" EXACT [OMIM:619784] +synonym: "epidermolysis bullosa, junctional 2B, herlitz IIA" EXACT [] synonym: "epidermolysis bullosa, junctional 2B, severe" EXACT [OMIM:619784] synonym: "JEB2B" EXACT ABBREVIATION [OMIM:619784] xref: MEDGEN:1805467 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -501906,7 +502000,7 @@ subset: rare synonym: "epidermolysis bullosa, junctional 3A, generalised intermediate" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, junctional 3A, generalized intermediate" EXACT [OMIM:619785] synonym: "epidermolysis bullosa, junctional 3A, intermediate" EXACT [OMIM:619785] -synonym: "epidermolysis bullosa, junctional 3A, non-herlitz IIA" EXACT [OMIM:619785] +synonym: "epidermolysis bullosa, junctional 3A, non-herlitz IIA" EXACT [] synonym: "JEB3A" EXACT ABBREVIATION [OMIM:619785] xref: MEDGEN:1812940 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619785 {source="MONDO:equivalentTo"} @@ -501922,7 +502016,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "epidermolysis bullosa, junctional 3B, generalised severe" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, junctional 3B, generalized severe" EXACT [OMIM:619786] -synonym: "epidermolysis bullosa, junctional 3B, herlitz IIA" EXACT [OMIM:619786] +synonym: "epidermolysis bullosa, junctional 3B, herlitz IIA" EXACT [] synonym: "epidermolysis bullosa, junctional 3B, severe" EXACT [OMIM:619786] synonym: "JEB3B" EXACT ABBREVIATION [OMIM:619786] xref: MEDGEN:1807897 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -501940,7 +502034,7 @@ subset: rare synonym: "epidermolysis bullosa, generalised atrophic benign" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, generalized atrophic benign" EXACT [OMIM:619787] synonym: "epidermolysis bullosa, junctional 4, intermediate" EXACT [OMIM:619787] -synonym: "epidermolysis bullosa, junctional 4, non-herlitz IIA" EXACT [OMIM:619787] +synonym: "epidermolysis bullosa, junctional 4, non-herlitz IIA" EXACT [] synonym: "epidermolysis bullosa, junctional, localisata variant" EXACT [OMIM:619787] synonym: "JEB4" EXACT ABBREVIATION [OMIM:619787] xref: MEDGEN:382015 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -501981,7 +502075,7 @@ subset: rare synonym: "epidermolysis bullosa, junctional 5A, generalised intermediate" EXACT OMO:0003005 [] synonym: "epidermolysis bullosa, junctional 5A, generalized intermediate" EXACT [OMIM:619816] synonym: "epidermolysis bullosa, junctional 5A, intermediate" EXACT [OMIM:619816] -synonym: "epidermolysis bullosa, junctional 5A, non-herlitz IIA" EXACT [OMIM:619816] +synonym: "epidermolysis bullosa, junctional 5A, non-herlitz IIA" EXACT [] synonym: "JEB5A" EXACT ABBREVIATION [OMIM:619816] xref: MEDGEN:1811851 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619816 {source="MONDO:equivalentTo"} @@ -502008,7 +502102,7 @@ name: restrictive dermopathy 2 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "restrictive dermopathy 2" EXACT [OMIM:619793] +synonym: "restrictive dermopathy 2" EXACT [DOID:0070370, OMIM:619793] synonym: "restrictive dermopathy 2, lethal" EXACT [OMIM:619793] synonym: "RSDM2" EXACT ABBREVIATION [OMIM:619793] xref: DOID:0070370 {source="MONDO:equivalentTo"} @@ -502036,8 +502130,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030787 name: spermatogenic failure 71 -synonym: "spermatogenic failure 71" EXACT [OMIM:619831] -synonym: "SPGF71" EXACT ABBREVIATION [OMIM:619831] +synonym: "spermatogenic failure 71" EXACT [DOID:0070570, OMIM:619831] +synonym: "SPGF71" EXACT ABBREVIATION [DOID:0070570, OMIM:619831] xref: DOID:0070570 {source="MONDO:equivalentTo"} xref: MEDGEN:1801153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619831 {source="MONDO:equivalentTo"} @@ -502130,8 +502224,8 @@ is_a: MONDO:0020380 {source="OMIM:619806"} ! autosomal dominant cerebellar ataxi id: MONDO:0030809 name: spermatogenic failure 72 subset: otar {source="MONDO:OTAR"} -synonym: "spermatogenic failure 72" EXACT [OMIM:619867] -synonym: "SPGF72" EXACT ABBREVIATION [OMIM:619867] +synonym: "spermatogenic failure 72" EXACT [DOID:0070571, OMIM:619867] +synonym: "SPGF72" EXACT ABBREVIATION [DOID:0070571, OMIM:619867] xref: DOID:0070571 {source="MONDO:equivalentTo"} xref: MEDGEN:1803118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619867 {source="MONDO:equivalentTo"} @@ -502178,8 +502272,8 @@ is_a: MONDO:0015762 {source="OMIM:619874"} ! progressive familial intrahepatic c [Term] id: MONDO:0030818 name: spermatogenic failure 73 -synonym: "spermatogenic failure 73" EXACT [OMIM:619878] -synonym: "SPGF73" EXACT ABBREVIATION [OMIM:619878] +synonym: "spermatogenic failure 73" EXACT [DOID:0070572, OMIM:619878] +synonym: "SPGF73" EXACT ABBREVIATION [DOID:0070572, OMIM:619878] xref: DOID:0070572 {source="MONDO:equivalentTo"} xref: MEDGEN:1801127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619878 {source="MONDO:equivalentTo"} @@ -502254,9 +502348,9 @@ name: neurodevelopmental disorder with microcephaly, impaired language, epilepsy def: "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems." [OMIM:619092] subset: gard_rare {source="GARD:18535", source="MONDO:GARD"} subset: rare -synonym: "NEDMILEG" BROAD ABBREVIATION [OMIM:619092] -synonym: "NEDMILEG, AD" EXACT ABBREVIATION [OMIM:619092] -synonym: "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant" EXACT [OMIM:619092, OMIM:genemap2] +synonym: "NEDMILEG" BROAD ABBREVIATION [] +synonym: "NEDMILEG, AD" EXACT ABBREVIATION [] +synonym: "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant" EXACT [] xref: GARD:18535 {source="MONDO:GARD"} xref: MEDGEN:1764121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619092 {source="MONDO:equivalentTo"} @@ -502327,8 +502421,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0030844 name: spermatogenic failure 47 subset: otar {source="MONDO:OTAR"} -synonym: "spermatogenic failure 47" EXACT [OMIM:619102] -synonym: "SPGF47" EXACT ABBREVIATION [OMIM:619102] +synonym: "spermatogenic failure 47" EXACT [DOID:0112175, OMIM:619102] +synonym: "SPGF47" EXACT ABBREVIATION [DOID:0112175, OMIM:619102] xref: DOID:0112175 {source="MONDO:equivalentTo"} xref: MEDGEN:1721477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619102 {source="MONDO:equivalentTo"} @@ -502342,8 +502436,8 @@ name: spermatogenic failure 48 subset: gard_rare {source="GARD:16420", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spermatogenic failure 48" EXACT [OMIM:619108] -synonym: "SPGF48" EXACT ABBREVIATION [OMIM:619108] +synonym: "spermatogenic failure 48" EXACT [DOID:0112176, OMIM:619108] +synonym: "SPGF48" EXACT ABBREVIATION [DOID:0112176, OMIM:619108] xref: DOID:0112176 {source="MONDO:equivalentTo"} xref: GARD:16420 {source="MONDO:GARD"} xref: MEDGEN:1761843 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -502360,7 +502454,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arthrogryposis, distal, type 1C" EXACT [OMIM:619110] -synonym: "DA1C" EXACT ABBREVIATION [OMIM:619110] +synonym: "DA1C" EXACT ABBREVIATION [DOID:0112190, OMIM:619110] xref: DOID:0112190 {source="MONDO:equivalentTo"} xref: GARD:16421 {source="MONDO:GARD"} xref: MEDGEN:1722257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -502386,7 +502480,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0030852 name: neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities synonym: "NEDFASB" EXACT ABBREVIATION [OMIM:619103] -synonym: "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities" EXACT [OMIM:619103, OMIM:genemap2] +synonym: "neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities" EXACT [OMIM:619103] xref: MEDGEN:1777442 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619103 {source="MONDO:equivalentTo"} xref: UMLS:C5436821 {source="MEDGEN:1777442", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -502436,8 +502530,8 @@ name: developmental and epileptic encephalopathy 89 subset: gard_rare {source="GARD:16424", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE89" EXACT ABBREVIATION [OMIM:619124] -synonym: "developmental and epileptic encephalopathy 89" EXACT [OMIM:619124] +synonym: "DEE89" EXACT ABBREVIATION [DOID:0112223, OMIM:619124] +synonym: "developmental and epileptic encephalopathy 89" EXACT [DOID:0112223, OMIM:619124] xref: DOID:0112223 {source="MONDO:equivalentTo"} xref: GARD:16424 {source="MONDO:GARD"} xref: MEDGEN:1761611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -502452,7 +502546,7 @@ name: immunodeficiency 75 subset: gard_rare {source="GARD:18194", source="MONDO:GARD"} subset: rare synonym: "IMD75" EXACT ABBREVIATION [OMIM:619126] -synonym: "immunodeficiency 75" EXACT [OMIM:619126] +synonym: "immunodeficiency 75" EXACT [] xref: GARD:18194 {source="MONDO:GARD"} xref: MEDGEN:1741014 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619126 {source="MONDO:equivalentTo"} @@ -502482,10 +502576,10 @@ name: neuronopathy, distal hereditary motor, type 5C def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:18268", source="MONDO:GARD"} subset: rare -synonym: "DHMN5C" EXACT [OMIM:619112] -synonym: "HMN5C" EXACT ABBREVIATION [OMIM:619112] -synonym: "neuropathy, distal hereditary motor, type VC" EXACT [OMIM:619112] -synonym: "spinal muscular atrophy, distal, type 5C" EXACT [OMIM:619112] +synonym: "DHMN5C" EXACT [] +synonym: "HMN5C" EXACT ABBREVIATION [] +synonym: "neuropathy, distal hereditary motor, type VC" EXACT [] +synonym: "spinal muscular atrophy, distal, type 5C" EXACT [] xref: DOID:0081401 {source="MONDO:equivalentTo"} xref: GARD:18268 {source="MONDO:GARD"} xref: MEDGEN:1760720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -502502,9 +502596,9 @@ name: osteogenesis imperfecta, type 21 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OI21" EXACT ABBREVIATION [OMIM:619131] -synonym: "osteogenesis imperfecta 21" EXACT [OMIM:619131, OMIM:genemap2] -synonym: "osteogenesis imperfecta, TYPE XXI" EXACT [OMIM:619131] +synonym: "OI21" EXACT ABBREVIATION [DOID:0112201, OMIM:619131] +synonym: "osteogenesis imperfecta 21" EXACT [] +synonym: "osteogenesis imperfecta, TYPE XXI" EXACT [] xref: DOID:0112201 {source="MONDO:equivalentTo"} xref: MEDGEN:1723598 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619131 {source="MONDO:equivalentTo"} @@ -502548,7 +502642,7 @@ id: MONDO:0030866 name: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "NEDCASB" EXACT ABBREVIATION [OMIM:619121] +synonym: "NEDCASB" EXACT ABBREVIATION [DOID:0070543, OMIM:619121] xref: DOID:0070543 {source="MONDO:equivalentTo"} xref: MEDGEN:1750805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619121 {source="MONDO:equivalentTo"} @@ -502582,7 +502676,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0030868 name: spermatogenic failure 49 subset: otar {source="MONDO:OTAR"} -synonym: "spermatogenic failure 49" EXACT [OMIM:619144] +synonym: "spermatogenic failure 49" EXACT [DOID:0112271, OMIM:619144] synonym: "SPGF49" EXACT ABBREVIATION [OMIM:619144] xref: DOID:0112271 {source="MONDO:equivalentTo"} xref: MEDGEN:1742668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -502595,9 +502689,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0030869 name: spermatogenic failures 50 subset: otar {source="MONDO:OTAR"} -synonym: "spermatogenic failure" BROAD [OMIM:619145, OMIM:genemap2] -synonym: "spermatogenic failures 50" EXACT [OMIM:619145] -synonym: "SPGF50" EXACT ABBREVIATION [OMIM:619145] +synonym: "spermatogenic failure" BROAD [] +synonym: "spermatogenic failures 50" EXACT [] +synonym: "SPGF50" EXACT ABBREVIATION [DOID:0112272, OMIM:619145] xref: DOID:0112272 {source="MONDO:equivalentTo"} xref: MEDGEN:1747507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619145 {source="MONDO:equivalentTo"} @@ -502623,7 +502717,7 @@ is_a: MONDO:0019852 {source="OMIM:619146"} ! inherited primary ovarian failure [Term] id: MONDO:0030871 name: vertebral hypersegmentation and orofacial anomalies -synonym: "VHO" EXACT ABBREVIATION [OMIM:619122] +synonym: "VHO" EXACT ABBREVIATION [DOID:0070418, OMIM:619122] xref: DOID:0070418 {source="MONDO:equivalentTo"} xref: MEDGEN:1746640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619122 {source="MONDO:equivalentTo"} @@ -502691,7 +502785,7 @@ id: MONDO:0030877 name: cardioacrofacial dysplasia 2 synonym: "CAFD2" EXACT ABBREVIATION [OMIM:619143] synonym: "cardioacrofacial dysplasia 2" EXACT [OMIM:619143] -synonym: "cardioacrofacial dysplasia 2, autosomal dominant, somatic mosaicism" EXACT [OMIM:619143, OMIM:genemap2] +synonym: "cardioacrofacial dysplasia 2, autosomal dominant, somatic mosaicism" EXACT [] xref: MEDGEN:1731253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619143 {source="MONDO:equivalentTo"} xref: UMLS:C5436886 {source="MEDGEN:1731253", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -502720,7 +502814,7 @@ subset: ordo_disorder {source="Orphanet:647667"} subset: orphanet_rare {source="Orphanet:647667"} subset: rare synonym: "mandibuloacral dysplasia associated to MTX2" EXACT [Orphanet:647667] -synonym: "MDPS" EXACT ABBREVIATION [OMIM:619127] +synonym: "MDPS" EXACT ABBREVIATION [OMIM:619127, Orphanet:647667] xref: MEDGEN:1741713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619127 {source="MONDO:equivalentTo"} xref: Orphanet:647667 {source="MONDO:equivalentTo"} @@ -502734,8 +502828,8 @@ name: developmental and epileptic encephalopathy 102 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE102" EXACT ABBREVIATION [OMIM:619881] -synonym: "developmental and epileptic encephalopathy 102" EXACT [OMIM:619881] +synonym: "DEE102" EXACT ABBREVIATION [DOID:0070388, OMIM:619881] +synonym: "developmental and epileptic encephalopathy 102" EXACT [DOID:0070388, OMIM:619881] xref: DOID:0070388 {source="MONDO:equivalentTo"} xref: MEDGEN:1812769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619881 {source="MONDO:equivalentTo"} @@ -502749,8 +502843,8 @@ name: carpal tunnel syndrome 2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "carpal tunnel syndrome 2" EXACT [OMIM:619161] -synonym: "CTS2" EXACT ABBREVIATION [OMIM:619161] +synonym: "carpal tunnel syndrome 2" EXACT [DOID:0070467, OMIM:619161] +synonym: "CTS2" EXACT ABBREVIATION [DOID:0070467, OMIM:619161] xref: DOID:0070467 {source="MONDO:equivalentTo"} xref: MEDGEN:1725962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619161 {source="MONDO:equivalentTo"} @@ -502812,7 +502906,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PCH17" EXACT ABBREVIATION [OMIM:619909] -synonym: "pontocerebellar hypoplasia, IIA 17" EXACT [OMIM:619909] +synonym: "pontocerebellar hypoplasia, IIA 17" EXACT [] xref: MEDGEN:1809583 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619909 {source="MONDO:equivalentTo"} xref: UMLS:C5676999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1809583"} @@ -502850,9 +502944,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:611216"} subset: orphanet_rare {source="Orphanet:611216"} subset: rare -synonym: "AMeD syndrome" EXACT [Orphanet:611216] +synonym: "AMeD syndrome" EXACT [DOID:0080952, Orphanet:611216] synonym: "AMED syndrome, digenic" EXACT [OMIM:619151] -synonym: "AMEDS" EXACT ABBREVIATION [OMIM:619151] +synonym: "AMEDS" EXACT ABBREVIATION [DOID:0080952, OMIM:619151] synonym: "aplastic anemia-intellectual disability-dwarfism syndrome" EXACT [Orphanet:611216] synonym: "bone marrow failure syndrome 7, digenic" EXACT [OMIM:619151] xref: DOID:0080952 {source="MONDO:equivalentTo"} @@ -502872,7 +502966,7 @@ name: nephrotic syndrome, type 22 subset: gard_rare {source="GARD:16428", source="MONDO:GARD"} subset: rare synonym: "nephrotic syndrome, type 22" EXACT [OMIM:619155] -synonym: "NPHS22" EXACT ABBREVIATION [OMIM:619155] +synonym: "NPHS22" EXACT ABBREVIATION [DOID:0112268, OMIM:619155] xref: DOID:0112268 {source="MONDO:equivalentTo"} xref: GARD:16428 {source="MONDO:GARD"} xref: MEDGEN:1745920 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -502936,9 +503030,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:597733"} subset: orphanet_rare {source="Orphanet:597733"} subset: rare -synonym: "OCA8" EXACT ABBREVIATION [OMIM:619165] +synonym: "OCA8" EXACT ABBREVIATION [OMIM:619165, Orphanet:597733] synonym: "oculocutaneous albinism, type 8" EXACT [OMIM:619165] -synonym: "oculocutaneous albinism, type VIII" EXACT [OMIM:619165, OMIM:genemap2] +synonym: "oculocutaneous albinism, type VIII" EXACT [] xref: GARD:18017 {source="MONDO:GARD"} xref: MEDGEN:1754121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619165 {source="MONDO:equivalentTo"} @@ -502966,7 +503060,7 @@ subset: gard_rare {source="GARD:16431", source="MONDO:GARD"} subset: rare synonym: "MC1DN36" EXACT ABBREVIATION [OMIM:619170] synonym: "mitochondrial complex 1 deficiency, nuclear type 36" EXACT [OMIM:619170] -synonym: "mitochondrial complex I deficiency, nuclear type 36" EXACT [OMIM:619170, OMIM:genemap2] +synonym: "mitochondrial complex I deficiency, nuclear type 36" EXACT [] xref: GARD:16431 {source="MONDO:GARD"} xref: MEDGEN:1773965 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619170 {source="MONDO:equivalentTo"} @@ -502981,7 +503075,7 @@ name: Hermansky-Pudlak syndrome 11 subset: gard_rare {source="GARD:18339", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Hermansky-Pudlak syndrome" BROAD [OMIM:619172] +synonym: "Hermansky-Pudlak syndrome" BROAD [] synonym: "HPS11" EXACT ABBREVIATION [OMIM:619172] xref: GARD:18339 {source="MONDO:GARD"} xref: MEDGEN:1727728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -502996,8 +503090,8 @@ name: hearing loss, autosomal recessive 117 subset: gard_rare {source="GARD:22665", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 117" NARROW [OMIM:619174, OMIM:genemap2] -synonym: "DFNB117" NARROW ABBREVIATION [OMIM:619174] +synonym: "deafness, autosomal recessive 117" NARROW [] +synonym: "DFNB117" NARROW ABBREVIATION [] xref: GARD:22665 {source="MONDO:GARD"} xref: MEDGEN:1747842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619174 {source="MONDO:equivalentTo"} @@ -503013,7 +503107,7 @@ name: Trichomonas tenax infectious disease def: "An disease or disorder caused by infection with Trichomonas tenax." [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trichomonas tenax caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Trichomonas tenax disease or disorder" EXACT [] -synonym: "Trichomonas tenax trichomoniasis" RELATED [DOID:0050270] +synonym: "Trichomonas tenax trichomoniasis" RELATED [] xref: DOID:0050270 {source="MONDO:equivalentTo"} is_a: MONDO:0002154 {source="DOID:0050270", source="MONDO:Redundant"} ! trichomoniasis intersection_of: MONDO:0005550 ! infectious disease @@ -503027,12 +503121,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked 106, X-linked recessive" EXACT [OMIM:300997, OMIM:genemap2] -synonym: "intellectual disability, X-linked 106" EXACT CLINGEN_LABEL [OMIM:300997] -synonym: "mental retardation, X-linked 106" RELATED DEPRECATED [OMIM:300997] -synonym: "MRX106" RELATED DEPRECATED [OMIM:300997] -synonym: "X-linked intellectual disability 106" RELATED [DOID:0080240] -synonym: "X-linked mental retardation 106" RELATED DEPRECATED [DOID:0080240] +synonym: "intellectual developmental disorder, X-linked 106, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked 106" EXACT CLINGEN_LABEL [] +synonym: "mental retardation, X-linked 106" RELATED DEPRECATED [] +synonym: "MRX106" RELATED DEPRECATED [] +synonym: "X-linked intellectual disability 106" RELATED [] +synonym: "X-linked mental retardation 106" RELATED DEPRECATED [] xref: DOID:0080240 {source="MONDO:equivalentTo"} xref: MEDGEN:1389156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300997 {source="DOID:0080240", source="MONDO:equivalentTo"} @@ -503049,12 +503143,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, X-linked, syndromic, 35, X-linked recessive" EXACT [OMIM:300998, OMIM:genemap2] -synonym: "intellectual disability, X-linked, syndromic, 35" EXACT [OMIM:300998] -synonym: "mental retardation, X-linked, syndromic, 35" RELATED DEPRECATED [OMIM:300998] -synonym: "MRXS35" RELATED DEPRECATED [OMIM:300998] -synonym: "syndromic X-linked intellectual disability 35" RELATED [DOID:0080241] -synonym: "syndromic X-linked mental retardation 35" RELATED DEPRECATED [DOID:0080241] +synonym: "intellectual developmental disorder, X-linked, syndromic, 35, X-linked recessive" EXACT [] +synonym: "intellectual disability, X-linked, syndromic, 35" EXACT [] +synonym: "mental retardation, X-linked, syndromic, 35" RELATED DEPRECATED [] +synonym: "MRXS35" RELATED DEPRECATED [] +synonym: "syndromic X-linked intellectual disability 35" RELATED [] +synonym: "syndromic X-linked mental retardation 35" RELATED DEPRECATED [] xref: DOID:0080241 {source="MONDO:equivalentTo"} xref: MEDGEN:1392054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300998 {source="DOID:0080241", source="MONDO:equivalentTo"} @@ -503072,14 +503166,14 @@ name: intellectual disability, X-linked, syndromic, Houge type subset: gard_rare {source="GARD:15282", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked, syndromic, Houge type" EXACT [OMIM:301008, OMIM:genemap2] -synonym: "intellectual disability, X-linked, syndromic, HOUGE type" RELATED [OMIM:301008] -synonym: "intellectual disability, X-linked, syndromic, Houge type" EXACT CLINGEN_LABEL [OMIM:301008] -synonym: "mental retardation, X-linked, syndromic, HOUGE type" RELATED DEPRECATED [OMIM:301008] -synonym: "mental retardation, X-linked, syndromic, Houge type" RELATED DEPRECATED [OMIM:301008] -synonym: "MRXSHG" RELATED DEPRECATED [OMIM:301008] -synonym: "syndromic X-linked intellectual disability Hough type" RELATED [DOID:0080242] -synonym: "syndromic X-linked mental retardation Hough type" RELATED DEPRECATED [DOID:0080242] +synonym: "intellectual developmental disorder, X-linked, syndromic, Houge type" EXACT [OMIM:301008] +synonym: "intellectual disability, X-linked, syndromic, HOUGE type" RELATED [] +synonym: "intellectual disability, X-linked, syndromic, Houge type" EXACT CLINGEN_LABEL [] +synonym: "mental retardation, X-linked, syndromic, HOUGE type" RELATED DEPRECATED [] +synonym: "mental retardation, X-linked, syndromic, Houge type" RELATED DEPRECATED [] +synonym: "MRXSHG" RELATED DEPRECATED [] +synonym: "syndromic X-linked intellectual disability Hough type" RELATED [] +synonym: "syndromic X-linked mental retardation Hough type" RELATED DEPRECATED [] xref: DOID:0080242 {source="MONDO:equivalentTo"} xref: GARD:15282 {source="MONDO:GARD"} xref: MEDGEN:1624740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503098,11 +503192,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 45" RELATED [DOID:0080236] -synonym: "autosomal dominant mental retardation 45" RELATED DEPRECATED [DOID:0080236] -synonym: "intellectual disability, autosomal dominant 45" EXACT CLINGEN_LABEL [OMIM:617600] -synonym: "mental retardation, autosomal dominant 45" RELATED DEPRECATED [OMIM:617600] -synonym: "MRD45" RELATED DEPRECATED [OMIM:617600] +synonym: "autosomal dominant intellectual disability 45" RELATED [] +synonym: "autosomal dominant mental retardation 45" RELATED DEPRECATED [] +synonym: "intellectual disability, autosomal dominant 45" EXACT CLINGEN_LABEL [] +synonym: "mental retardation, autosomal dominant 45" RELATED DEPRECATED [] +synonym: "MRD45" RELATED DEPRECATED [] xref: DOID:0080236 {source="MONDO:equivalentTo"} xref: MEDGEN:1616472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617600 {source="MONDO:equivalentTo", source="DOID:0080236"} @@ -503117,11 +503211,11 @@ name: intellectual disability, autosomal dominant 46 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant intellectual disability 46" RELATED [DOID:0080237] -synonym: "autosomal dominant mental retardation 46" RELATED DEPRECATED [DOID:0080237] -synonym: "intellectual disability, autosomal dominant 46" EXACT [OMIM:617601] -synonym: "mental retardation, autosomal dominant 46" RELATED DEPRECATED [OMIM:617601] -synonym: "MRD46" RELATED DEPRECATED [OMIM:617601] +synonym: "autosomal dominant intellectual disability 46" RELATED [] +synonym: "autosomal dominant mental retardation 46" RELATED DEPRECATED [] +synonym: "intellectual disability, autosomal dominant 46" EXACT [] +synonym: "mental retardation, autosomal dominant 46" RELATED DEPRECATED [] +synonym: "MRD46" RELATED DEPRECATED [] xref: DOID:0080237 {source="MONDO:equivalentTo"} xref: MEDGEN:1618560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617601 {source="MONDO:equivalentTo", source="DOID:0080237"} @@ -503140,12 +503234,12 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:502434"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 47" RELATED [DOID:0080238] -synonym: "autosomal dominant mental retardation 47" RELATED DEPRECATED [DOID:0080238] -synonym: "intellectual disability, autosomal dominant 47" EXACT [OMIM:617635] -synonym: "mental retardation, autosomal dominant 47" RELATED DEPRECATED [OMIM:617635] -synonym: "MRD47" RELATED DEPRECATED [OMIM:617635] -synonym: "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" EXACT [MONDO:0044716] +synonym: "autosomal dominant intellectual disability 47" RELATED [] +synonym: "autosomal dominant mental retardation 47" RELATED DEPRECATED [] +synonym: "intellectual disability, autosomal dominant 47" EXACT [] +synonym: "mental retardation, autosomal dominant 47" RELATED DEPRECATED [] +synonym: "MRD47" RELATED DEPRECATED [] +synonym: "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" EXACT [MONDO:0044716, Orphanet:502434] xref: DOID:0080238 {source="MONDO:equivalentTo"} xref: GARD:17935 {source="MONDO:GARD"} xref: MEDGEN:1622196 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503167,12 +503261,12 @@ subset: ordo_disorder {source="Orphanet:500159"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:500159"} subset: rare -synonym: "autosomal dominant intellectual disability 48" RELATED [DOID:0080235] -synonym: "autosomal dominant mental retardation 48" RELATED DEPRECATED [DOID:0080235] -synonym: "intellectual disability, autosomal dominant 48" EXACT [OMIM:617751] -synonym: "mental retardation, autosomal dominant 48" RELATED DEPRECATED [OMIM:617751] -synonym: "microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom" RELATED [Orphanet:500159] -synonym: "MRD48" RELATED DEPRECATED [OMIM:617751] +synonym: "autosomal dominant intellectual disability 48" RELATED [] +synonym: "autosomal dominant mental retardation 48" RELATED DEPRECATED [] +synonym: "intellectual disability, autosomal dominant 48" EXACT [] +synonym: "mental retardation, autosomal dominant 48" RELATED DEPRECATED [] +synonym: "microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom" RELATED [] +synonym: "MRD48" RELATED DEPRECATED [] xref: DOID:0080235 {source="MONDO:equivalentTo"} xref: GARD:17924 {source="MONDO:GARD"} xref: MEDGEN:1619532 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503196,15 +503290,15 @@ subset: ordo_disorder {source="Orphanet:600731"} subset: orphanet_rare {source="Orphanet:600731"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 49" RELATED [DOID:0080234] -synonym: "autosomal dominant mental retardation 49" RELATED DEPRECATED [DOID:0080234] -synonym: "Baraitser syndrome" RELATED [OMIM:300602] -synonym: "Clark-Baraitser syndrome" EXACT CLINGEN_LABEL [OMIM:300602] -synonym: "intellectual disability, autosomal dominant 49" EXACT [OMIM:617752] +synonym: "autosomal dominant intellectual disability 49" RELATED [] +synonym: "autosomal dominant mental retardation 49" RELATED DEPRECATED [] +synonym: "Baraitser syndrome" RELATED [] +synonym: "Clark-Baraitser syndrome" EXACT CLINGEN_LABEL [DOID:0080234, OMIM:617752, Orphanet:600731] +synonym: "intellectual disability, autosomal dominant 49" EXACT [] synonym: "intellectual disability, tall stature, obesity, macrocephaly and typical facial features" RELATED [GARD:0009994] -synonym: "mental retardation, autosomal dominant 49" RELATED DEPRECATED [OMIM:617752] +synonym: "mental retardation, autosomal dominant 49" RELATED DEPRECATED [] synonym: "mental retardation, tall stature, obesity, macrocephaly and typical facial features" RELATED DEPRECATED [GARD:0009994] -synonym: "MRD49" EXACT DEPRECATED [OMIM:617752] +synonym: "MRD49" EXACT DEPRECATED [] xref: DOID:0080234 {source="MONDO:equivalentTo"} xref: GARD:9994 {source="MONDO:GARD"} xref: MEDGEN:443983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503226,12 +503320,12 @@ def: "An autosomal recessive non-syndromic intellectual disability that has mate subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Alwadei syndrome" RELATED [OMIM:617773] -synonym: "autosomal recessive intellectual disability 61" RELATED [DOID:0080239] -synonym: "autosomal recessive mental retardation 61" RELATED DEPRECATED [DOID:0080239] -synonym: "intellectual disability, autosomal recessive 61" EXACT [OMIM:617773] -synonym: "mental retardation, autosomal recessive 61" RELATED DEPRECATED [OMIM:617773] -synonym: "MRT61" RELATED DEPRECATED [OMIM:617773] +synonym: "Alwadei syndrome" RELATED [] +synonym: "autosomal recessive intellectual disability 61" RELATED [] +synonym: "autosomal recessive mental retardation 61" RELATED DEPRECATED [] +synonym: "intellectual disability, autosomal recessive 61" EXACT [] +synonym: "mental retardation, autosomal recessive 61" RELATED DEPRECATED [] +synonym: "MRT61" RELATED DEPRECATED [] xref: DOID:0080239 {source="MONDO:equivalentTo"} xref: MEDGEN:1622296 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617773 {source="MONDO:equivalentTo", source="DOID:0080239"} @@ -503246,13 +503340,13 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 50" RELATED [DOID:0080233] -synonym: "autosomal dominant mental retardation 50" RELATED DEPRECATED [DOID:0080233] -synonym: "intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities" EXACT [OMIM:617787, OMIM:genemap2] +synonym: "autosomal dominant intellectual disability 50" RELATED [] +synonym: "autosomal dominant mental retardation 50" RELATED DEPRECATED [] +synonym: "intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities" EXACT [OMIM:617787] synonym: "intellectual developmental disorder, autosomal dominant 50, with behavioural abnormalities" EXACT OMO:0003005 [] -synonym: "intellectual disability, autosomal dominant 50" EXACT [OMIM:617787] -synonym: "mental retardation, autosomal dominant 50" RELATED DEPRECATED [OMIM:617787] -synonym: "MRD50" RELATED DEPRECATED [OMIM:617787] +synonym: "intellectual disability, autosomal dominant 50" EXACT [] +synonym: "mental retardation, autosomal dominant 50" RELATED DEPRECATED [] +synonym: "MRD50" RELATED DEPRECATED [] xref: DOID:0080233 {source="MONDO:equivalentTo"} xref: MEDGEN:1616989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617787 {source="DOID:0080233", source="MONDO:equivalentTo"} @@ -503269,11 +503363,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 51" RELATED [DOID:0080232] -synonym: "autosomal dominant mental retardation 51" RELATED DEPRECATED [DOID:0080232] -synonym: "intellectual disability, autosomal dominant 51" EXACT [OMIM:617788] -synonym: "mental retardation, autosomal dominant 51" RELATED DEPRECATED [OMIM:617788] -synonym: "MRD51" RELATED DEPRECATED [OMIM:617788] +synonym: "autosomal dominant intellectual disability 51" RELATED [] +synonym: "autosomal dominant mental retardation 51" RELATED DEPRECATED [] +synonym: "intellectual disability, autosomal dominant 51" EXACT [] +synonym: "mental retardation, autosomal dominant 51" RELATED DEPRECATED [] +synonym: "MRD51" RELATED DEPRECATED [] xref: DOID:0080232 {source="MONDO:equivalentTo"} xref: MEDGEN:1625009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617788 {source="DOID:0080232", source="MONDO:equivalentTo"} @@ -503289,11 +503383,11 @@ subset: gard_rare {source="GARD:16472", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 52" RELATED [DOID:0080231] -synonym: "autosomal dominant mental retardation 52" RELATED DEPRECATED [DOID:0080231] -synonym: "intellectual disability, autosomal dominant 52" EXACT [OMIM:617796] -synonym: "mental retardation, autosomal dominant 52" RELATED DEPRECATED [OMIM:617796] -synonym: "MRD52" RELATED DEPRECATED [OMIM:617796] +synonym: "autosomal dominant intellectual disability 52" RELATED [] +synonym: "autosomal dominant mental retardation 52" RELATED DEPRECATED [] +synonym: "intellectual disability, autosomal dominant 52" EXACT [] +synonym: "mental retardation, autosomal dominant 52" RELATED DEPRECATED [] +synonym: "MRD52" RELATED DEPRECATED [] xref: DOID:0080231 {source="MONDO:equivalentTo"} xref: EFO:0009152 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:16472 {source="MONDO:GARD"} @@ -503311,11 +503405,11 @@ subset: gard_rare {source="GARD:16473", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 53" RELATED [DOID:0080228] -synonym: "autosomal dominant mental retardation 53" RELATED DEPRECATED [DOID:0080228] -synonym: "intellectual disability, autosomal dominant 53" EXACT CLINGEN_LABEL [OMIM:617798] -synonym: "mental retardation, autosomal dominant 53" RELATED DEPRECATED [OMIM:617798] -synonym: "MRD53" RELATED DEPRECATED [OMIM:617798] +synonym: "autosomal dominant intellectual disability 53" RELATED [] +synonym: "autosomal dominant mental retardation 53" RELATED DEPRECATED [] +synonym: "intellectual disability, autosomal dominant 53" EXACT CLINGEN_LABEL [] +synonym: "mental retardation, autosomal dominant 53" RELATED DEPRECATED [] +synonym: "MRD53" RELATED DEPRECATED [] xref: DOID:0080228 {source="MONDO:equivalentTo"} xref: EFO:0009165 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:16473 {source="MONDO:GARD"} @@ -503333,11 +503427,11 @@ name: intellectual disability, autosomal dominant 54 subset: gard_rare {source="GARD:16474", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant intellectual disability 54" RELATED [DOID:0080230] -synonym: "autosomal dominant mental retardation 54" RELATED DEPRECATED [DOID:0080230] -synonym: "intellectual disability, autosomal dominant 54" EXACT CLINGEN_LABEL [OMIM:617799] -synonym: "mental retardation, autosomal dominant 54" RELATED DEPRECATED [OMIM:617799] -synonym: "MRD54" RELATED DEPRECATED [OMIM:617799] +synonym: "autosomal dominant intellectual disability 54" RELATED [] +synonym: "autosomal dominant mental retardation 54" RELATED DEPRECATED [] +synonym: "intellectual disability, autosomal dominant 54" EXACT CLINGEN_LABEL [] +synonym: "mental retardation, autosomal dominant 54" RELATED DEPRECATED [] +synonym: "MRD54" RELATED DEPRECATED [] xref: DOID:0080230 {source="MONDO:equivalentTo"} xref: GARD:16474 {source="MONDO:GARD"} xref: MEDGEN:1614787 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503354,11 +503448,11 @@ name: intellectual disability, autosomal dominant 55, with seizures subset: gard_rare {source="GARD:16260", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant intellectual disability 55" RELATED [DOID:0080227] -synonym: "autosomal dominant mental retardation 55" RELATED DEPRECATED [DOID:0080227] -synonym: "intellectual disability, autosomal dominant 55, with seizures" EXACT [OMIM:617831] -synonym: "mental retardation, autosomal dominant 55, with seizures" RELATED DEPRECATED [OMIM:617831] -synonym: "MRD55" RELATED DEPRECATED [OMIM:617831] +synonym: "autosomal dominant intellectual disability 55" RELATED [] +synonym: "autosomal dominant mental retardation 55" RELATED DEPRECATED [] +synonym: "intellectual disability, autosomal dominant 55, with seizures" EXACT [] +synonym: "mental retardation, autosomal dominant 55, with seizures" RELATED DEPRECATED [] +synonym: "MRD55" RELATED DEPRECATED [] xref: DOID:0080227 {source="MONDO:equivalentTo"} xref: GARD:16260 {source="MONDO:GARD"} xref: MEDGEN:1635938 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503376,14 +503470,14 @@ subset: gard_rare {source="GARD:13524", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant intellectual disability 56" RELATED [DOID:0080226] -synonym: "autosomal dominant mental retardation 56" RELATED DEPRECATED [DOID:0080226] +synonym: "autosomal dominant intellectual disability 56" RELATED [] +synonym: "autosomal dominant mental retardation 56" RELATED DEPRECATED [] synonym: "CLTC-related disorder" EXACT [PMID:37196051] synonym: "CLTC-related ID" EXACT [PMID:37196051] synonym: "CLTC-related intellectual disability" EXACT [PMID:37196051] -synonym: "intellectual disability, autosomal dominant 56" EXACT [OMIM:617854] -synonym: "mental retardation, autosomal dominant 56" RELATED DEPRECATED [OMIM:617854] -synonym: "MRD56" RELATED DEPRECATED [OMIM:617854] +synonym: "intellectual disability, autosomal dominant 56" EXACT [] +synonym: "mental retardation, autosomal dominant 56" RELATED DEPRECATED [] +synonym: "MRD56" RELATED DEPRECATED [] xref: DOID:0080226 {source="MONDO:equivalentTo"} xref: GARD:13524 {source="MONDO:GARD"} xref: MEDGEN:1638835 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503416,7 +503510,7 @@ name: proteasome-associated autoinflammatory syndrome 5 subset: gard_rare {source="GARD:18448", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PRAAS5" EXACT ABBREVIATION [OMIM:619175] +synonym: "PRAAS5" EXACT ABBREVIATION [DOID:0060919, OMIM:619175] synonym: "proteasome-associated autoinflammatory syndrome 5" EXACT [OMIM:619175] xref: DOID:0060919 {source="MONDO:equivalentTo"} xref: GARD:18448 {source="MONDO:GARD"} @@ -503432,7 +503526,7 @@ name: oocyte maturation defect 10 subset: gard_rare {source="GARD:18500", source="MONDO:GARD"} subset: rare synonym: "oocyte maturation defect 10" EXACT [OMIM:619176] -synonym: "OOMD10" EXACT ABBREVIATION [OMIM:619176] +synonym: "OOMD10" EXACT ABBREVIATION [] xref: GARD:18500 {source="MONDO:GARD"} xref: MEDGEN:1766720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619176 {source="MONDO:equivalentTo"} @@ -503444,8 +503538,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0030926 name: spermatogenic failure 51 subset: otar {source="MONDO:OTAR"} -synonym: "spermatogenic failure 51" EXACT [OMIM:619177] -synonym: "SPGF51" EXACT ABBREVIATION [OMIM:619177] +synonym: "spermatogenic failure 51" EXACT [DOID:0112273, OMIM:619177] +synonym: "SPGF51" EXACT ABBREVIATION [DOID:0112273, OMIM:619177] xref: DOID:0112273 {source="MONDO:equivalentTo"} xref: MEDGEN:1780365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619177 {source="MONDO:equivalentTo"} @@ -503459,7 +503553,7 @@ name: myofibrillar myopathy 11 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "MFM11" EXACT ABBREVIATION [OMIM:619178] -synonym: "myofibrillar myopathy 11" EXACT [OMIM:619178] +synonym: "myofibrillar myopathy 11" EXACT [DOID:0081338, OMIM:619178] synonym: "myopathy, congenital, with eccentric cores" EXACT [OMIM:619178] xref: DOID:0081338 {source="MONDO:equivalentTo"} xref: MEDGEN:1782465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503525,7 +503619,7 @@ name: proteasome-associated autoinflammatory syndrome 4 subset: gard_rare {source="GARD:18449", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PRAAS4" EXACT ABBREVIATION [OMIM:619183] +synonym: "PRAAS4" EXACT ABBREVIATION [DOID:0060915, OMIM:619183] synonym: "proteasome-associated autoinflammatory syndrome 4" EXACT [OMIM:619183] xref: DOID:0060915 {source="MONDO:equivalentTo"} xref: GARD:18449 {source="MONDO:GARD"} @@ -503571,7 +503665,7 @@ subset: gard_rare {source="GARD:16429", source="MONDO:GARD"} subset: rare synonym: "MC2DN2" EXACT ABBREVIATION [OMIM:619166] synonym: "mitochondrial complex 2 deficiency, nuclear type 2" EXACT [OMIM:619166] -synonym: "mitochondrial complex II deficiency, nuclear type 2" EXACT [OMIM:619166, OMIM:genemap2] +synonym: "mitochondrial complex II deficiency, nuclear type 2" EXACT [] xref: GARD:16429 {source="MONDO:GARD"} xref: MEDGEN:1742371 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619166 {source="MONDO:equivalentTo"} @@ -503602,7 +503696,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MC2DN3" EXACT ABBREVIATION [OMIM:619167] synonym: "mitochondrial complex 2 deficiency, nuclear type 3" EXACT [OMIM:619167] -synonym: "mitochondrial complex II deficiency, nuclear type 3" EXACT [OMIM:619167, OMIM:genemap2] +synonym: "mitochondrial complex II deficiency, nuclear type 3" EXACT [] xref: GARD:16430 {source="MONDO:GARD"} xref: MEDGEN:1751884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619167 {source="MONDO:equivalentTo"} @@ -503617,8 +503711,8 @@ name: spermatogenic failure 52 subset: gard_rare {source="GARD:16436", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spermatogenic failure 52" EXACT [OMIM:619202] -synonym: "SPGF52" EXACT ABBREVIATION [OMIM:619202] +synonym: "spermatogenic failure 52" EXACT [DOID:0112270, OMIM:619202] +synonym: "SPGF52" EXACT ABBREVIATION [DOID:0112270, OMIM:619202] xref: DOID:0112270 {source="MONDO:equivalentTo"} xref: GARD:16436 {source="MONDO:GARD"} xref: MEDGEN:1785685 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503633,8 +503727,8 @@ name: premature ovarian failure 18 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "POF18" EXACT ABBREVIATION [OMIM:619203] -synonym: "premature ovarian failure 18" EXACT [OMIM:619203] +synonym: "POF18" EXACT ABBREVIATION [DOID:0112269, OMIM:619203] +synonym: "premature ovarian failure 18" EXACT [DOID:0112269, OMIM:619203] xref: DOID:0112269 {source="MONDO:equivalentTo"} xref: MEDGEN:1785989 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619203 {source="MONDO:equivalentTo"} @@ -503664,8 +503758,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:610573"} subset: orphanet_rare {source="Orphanet:610573"} subset: rare -synonym: "CONRIBA" EXACT ABBREVIATION [OMIM:619173] -synonym: "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities" EXACT [OMIM:619173, OMIM:genemap2] +synonym: "CONRIBA" EXACT ABBREVIATION [] +synonym: "neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities" EXACT [] xref: GARD:18023 {source="MONDO:GARD"} xref: MEDGEN:1781967 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619173 {source="MONDO:equivalentTo"} @@ -503678,9 +503772,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0030953 name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 -synonym: "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" BROAD [OMIM:619184, OMIM:genemap2] -synonym: "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" EXACT [OMIM:619184] -synonym: "SSFSC2" EXACT ABBREVIATION [OMIM:619184] +synonym: "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" BROAD [] +synonym: "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" EXACT [DOID:0112358, OMIM:619184] +synonym: "SSFSC2" EXACT ABBREVIATION [DOID:0112358, OMIM:619184] xref: DOID:0112358 {source="MONDO:equivalentTo"} xref: MEDGEN:1782253 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619184 {source="MONDO:equivalentTo"} @@ -503695,8 +503789,8 @@ name: developmental and epileptic encephalopathy 103 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE103" EXACT ABBREVIATION [OMIM:619913] -synonym: "developmental and epileptic encephalopathy 103" EXACT [OMIM:619913] +synonym: "DEE103" EXACT ABBREVIATION [DOID:0070389, OMIM:619913] +synonym: "developmental and epileptic encephalopathy 103" EXACT [DOID:0070389, OMIM:619913] xref: DOID:0070389 {source="MONDO:equivalentTo"} xref: MEDGEN:1809962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619913 {source="MONDO:equivalentTo"} @@ -503710,7 +503804,7 @@ name: dystonia 35, childhood-onset subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "dystonia 35, childhood-onset" EXACT [OMIM:619921] +synonym: "dystonia 35, childhood-onset" EXACT [DOID:0060955, OMIM:619921] synonym: "DYT35" EXACT ABBREVIATION [OMIM:619921] xref: DOID:0060955 {source="MONDO:equivalentTo"} xref: MEDGEN:1801185 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503740,7 +503834,7 @@ name: nephrotic syndrome, type 23 subset: gard_rare {source="GARD:16435", source="MONDO:GARD"} subset: rare synonym: "nephrotic syndrome, type 23" EXACT [OMIM:619201] -synonym: "NPHS23" EXACT ABBREVIATION [OMIM:619201] +synonym: "NPHS23" EXACT ABBREVIATION [DOID:0112266, OMIM:619201] xref: DOID:0112266 {source="MONDO:equivalentTo"} xref: GARD:16435 {source="MONDO:GARD"} xref: MEDGEN:1787011 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503842,7 +503936,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030971 name: immunodeficiency 78 with autoimmunity and developmental delay -synonym: "IMD78" EXACT [OMIM:619220] +synonym: "IMD78" EXACT ABBREVIATION [OMIM:619220] synonym: "immunodeficiency 78 with autoimmunity and developmental delay" EXACT [OMIM:619220] synonym: "TPP2 deficiency" EXACT [OMIM:619220] xref: MEDGEN:1785772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503854,8 +503948,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030972 name: spermatogenic failure 74 -synonym: "spermatogenic failure 74" EXACT [OMIM:619937] -synonym: "SPGF74" EXACT ABBREVIATION [OMIM:619937] +synonym: "spermatogenic failure 74" EXACT [DOID:0070573, OMIM:619937] +synonym: "SPGF74" EXACT ABBREVIATION [DOID:0070573, OMIM:619937] xref: DOID:0070573 {source="MONDO:equivalentTo"} xref: MEDGEN:1812069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619937 {source="MONDO:equivalentTo"} @@ -503879,9 +503973,9 @@ id: MONDO:0030974 name: mitochondrial complex 2 deficiency, nuclear type 4 subset: gard_rare {source="GARD:16438", source="MONDO:GARD"} subset: rare -synonym: "MC2DN4" EXACT [OMIM:619224] +synonym: "MC2DN4" EXACT ABBREVIATION [OMIM:619224] synonym: "mitochondrial complex 2 deficiency, nuclear type 4" EXACT [OMIM:619224] -synonym: "mitochondrial complex II deficiency, nuclear type 4" EXACT [OMIM:619224, OMIM:genemap2] +synonym: "mitochondrial complex II deficiency, nuclear type 4" EXACT [] xref: GARD:16438 {source="MONDO:GARD"} xref: MEDGEN:1782861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619224 {source="MONDO:equivalentTo"} @@ -503918,7 +504012,7 @@ id: MONDO:0030977 name: neuronopathy, distal hereditary motor, autosomal recessive 7 subset: gard_rare {source="GARD:18444", source="MONDO:GARD"} subset: rare -synonym: "HMNMYO" EXACT ABBREVIATION [OMIM:619216] +synonym: "HMNMYO" EXACT ABBREVIATION [] synonym: "neuropathy, hereditary motor, with myopathic features" EXACT [OMIM:619216] xref: DOID:0081426 {source="MONDO:equivalentTo"} xref: GARD:18444 {source="MONDO:GARD"} @@ -503965,8 +504059,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CD4 Deficiency" EXACT [OMIM:619238] -synonym: "IMD79" EXACT [OMIM:619238] -synonym: "immunodeficiency 79" EXACT [OMIM:619238] +synonym: "IMD79" EXACT ABBREVIATION [DOID:0112277, OMIM:619238] +synonym: "immunodeficiency 79" EXACT [DOID:0112277, OMIM:619238] xref: DOID:0112277 {source="MONDO:equivalentTo"} xref: GARD:9523 {source="MONDO:GARD"} xref: MEDGEN:1783683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -503998,7 +504092,7 @@ id: MONDO:0030983 name: Waardenburg syndrome, IIa 2F subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Waardenburg syndrome, IIa 2F" EXACT [OMIM:619947] +synonym: "Waardenburg syndrome, IIa 2F" EXACT [] synonym: "WS2F" EXACT ABBREVIATION [OMIM:619947] xref: MEDGEN:1809587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619947 {source="MONDO:equivalentTo"} @@ -504009,8 +504103,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030984 name: spermatogenic failure 75 -synonym: "spermatogenic failure 75" EXACT [OMIM:619949] -synonym: "SPGF75" EXACT ABBREVIATION [OMIM:619949] +synonym: "spermatogenic failure 75" EXACT [DOID:0070574, OMIM:619949] +synonym: "SPGF75" EXACT ABBREVIATION [DOID:0070574, OMIM:619949] xref: DOID:0070574 {source="MONDO:equivalentTo"} xref: MEDGEN:1804291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619949 {source="MONDO:equivalentTo"} @@ -504024,8 +504118,8 @@ name: premature ovarian failure 19 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "POF19" EXACT [OMIM:619245] -synonym: "premature ovarian failure 19" EXACT [OMIM:619245] +synonym: "POF19" EXACT ABBREVIATION [DOID:0112278, OMIM:619245] +synonym: "premature ovarian failure 19" EXACT [DOID:0112278, OMIM:619245] xref: DOID:0112278 {source="MONDO:equivalentTo"} xref: MEDGEN:1779702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619245 {source="MONDO:equivalentTo"} @@ -504067,8 +504161,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030989 name: spermatogenic failure 53 -synonym: "spermatogenic failure 53" EXACT [OMIM:619258] -synonym: "SPGF53" EXACT [OMIM:619258] +synonym: "spermatogenic failure 53" EXACT [DOID:0112279, OMIM:619258] +synonym: "SPGF53" EXACT ABBREVIATION [DOID:0112279, OMIM:619258] xref: DOID:0112279 {source="MONDO:equivalentTo"} xref: MEDGEN:1787013 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619258 {source="MONDO:equivalentTo"} @@ -504079,7 +504173,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030990 name: Kohlschutter-Tonz syndrome-like -synonym: "KTZSL" EXACT ABBREVIATION [OMIM:619229] +synonym: "KTZSL" EXACT ABBREVIATION [] xref: MEDGEN:1781649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619229 {source="MONDO:equivalentTo"} xref: UMLS:C5543202 {source="MEDGEN:1781649", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -504110,8 +504204,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0030993 name: Tessadori-Van Haaften neurodevelopmental syndrome 3 -synonym: "Tessadori-Van Haaften neurodevelopmental syndrome 3" EXACT [OMIM:619950] -synonym: "TEVANED3" EXACT ABBREVIATION [OMIM:619950] +synonym: "Tessadori-Van Haaften neurodevelopmental syndrome 3" EXACT [] +synonym: "TEVANED3" EXACT ABBREVIATION [] xref: MEDGEN:1824083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619950 {source="MONDO:equivalentTo"} xref: UMLS:C5774310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824083"} @@ -504125,7 +504219,7 @@ subset: gard_rare {source="GARD:18540", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "NEDAUS" EXACT ABBREVIATION [OMIM:619239] -synonym: "neurodevelopmental disorder with or without autism or seizures" EXACT CLINGEN_LABEL [] +synonym: "neurodevelopmental disorder with or without autism or seizures" EXACT CLINGEN_LABEL [OMIM:619239] xref: GARD:18540 {source="MONDO:GARD"} xref: MEDGEN:1784023 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619239 {source="MONDO:equivalentTo"} @@ -504156,9 +504250,9 @@ subset: gard_rare {source="GARD:18273", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BDPLT24" EXACT [OMIM:619271] +synonym: "BDPLT24" EXACT ABBREVIATION [OMIM:619271] synonym: "bleeding disorder, platelet-type, 24" EXACT [OMIM:619271] -synonym: "bleeding disorder, platelet-type, 24, autosomal dominant" EXACT [OMIM:619271, OMIM:genemap2] +synonym: "bleeding disorder, platelet-type, 24, autosomal dominant" EXACT [] synonym: "Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2" EXACT [OMIM:619271] xref: GARD:18273 {source="MONDO:GARD"} xref: MEDGEN:1785711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -504173,9 +504267,9 @@ id: MONDO:0030997 name: mitochondrial complex 1 deficiency, nuclear type 37 subset: gard_rare {source="GARD:16440", source="MONDO:GARD"} subset: rare -synonym: "MC1DN37" EXACT [OMIM:619272] +synonym: "MC1DN37" EXACT ABBREVIATION [OMIM:619272] synonym: "mitochondrial complex 1 deficiency, nuclear type 37" EXACT [OMIM:619272] -synonym: "mitochondrial complex I deficiency, nuclear type 37" EXACT [OMIM:619272, OMIM:genemap2] +synonym: "mitochondrial complex I deficiency, nuclear type 37" EXACT [] xref: GARD:16440 {source="MONDO:GARD"} xref: MEDGEN:1783339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619272 {source="MONDO:equivalentTo"} @@ -504190,8 +504284,8 @@ name: hearing loss, autosomal dominant 80 subset: gard_rare {source="GARD:18158", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal dominant 80" NARROW [OMIM:619274, OMIM:genemap2] -synonym: "DFNA80" NARROW [OMIM:619274] +synonym: "deafness, autosomal dominant 80" NARROW [] +synonym: "DFNA80" NARROW [] xref: GARD:18158 {source="MONDO:GARD"} xref: MEDGEN:1779667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619274 {source="MONDO:equivalentTo"} @@ -504219,8 +504313,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0031000 name: Tessadori-Van Haaften neurodevelopmental syndrome 4 -synonym: "Tessadori-Van Haaften neurodevelopmental syndrome 4" EXACT [OMIM:619951] -synonym: "TEVANED4" EXACT ABBREVIATION [OMIM:619951] +synonym: "Tessadori-Van Haaften neurodevelopmental syndrome 4" EXACT [] +synonym: "TEVANED4" EXACT ABBREVIATION [] xref: MEDGEN:1804234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619951 {source="MONDO:equivalentTo"} xref: UMLS:C5677016 {source="MEDGEN:1804234", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -504254,7 +504348,7 @@ name: hypercholanemia, familial, 2 subset: gard_rare {source="GARD:18341", source="MONDO:GARD"} subset: rare synonym: "FHCA2" EXACT ABBREVIATION [OMIM:619256] -synonym: "hypercholanemia, familial 2" EXACT [OMIM:619256, OMIM:genemap2] +synonym: "hypercholanemia, familial 2" EXACT [] synonym: "NTCP Deficiency" EXACT [OMIM:619256] xref: GARD:18341 {source="MONDO:GARD"} xref: MEDGEN:1780531 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -504293,8 +504387,8 @@ subset: ordo_disorder {source="Orphanet:611207"} subset: orphanet_rare {source="Orphanet:611207"} subset: rare synonym: "SHILCA" EXACT ABBREVIATION [OMIM:619260] -synonym: "SHILCA syndrome" EXACT [OMIM:619260, Orphanet:611207] -synonym: "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis" EXACT [OMIM:619260, OMIM:genemap2] +synonym: "SHILCA syndrome" EXACT [DOID:0112290, OMIM:619260, Orphanet:611207] +synonym: "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis" EXACT [DOID:0112290] xref: DOID:0112290 {source="MONDO:equivalentTo"} xref: GARD:18025 {source="MONDO:GARD"} xref: MEDGEN:1780157 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -504335,7 +504429,7 @@ subset: gard_rare {source="GARD:16439", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "bleeding disorder, platelet-type, 23" EXACT [OMIM:619267] -synonym: "Glanzmann thrombasthenia 2" EXACT CLINGEN_LABEL [] +synonym: "Glanzmann thrombasthenia 2" EXACT CLINGEN_LABEL [OMIM:619267] synonym: "GT2" EXACT ABBREVIATION [OMIM:619267] xref: GARD:16439 {source="MONDO:GARD"} xref: MEDGEN:1782592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -504352,7 +504446,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ODCD2" EXACT ABBREVIATION [OMIM:619269] -synonym: "ondontochondrodysplasia 2 with hearing loss and diabetes" EXACT [OMIM:619269, OMIM:genemap2] +synonym: "ondontochondrodysplasia 2 with hearing loss and diabetes" EXACT [] xref: MEDGEN:1782909 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619269 {source="MONDO:equivalentTo"} xref: UMLS:C5543275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1782909"} @@ -504431,9 +504525,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:631088"} subset: orphanet_rare {source="Orphanet:631088"} subset: rare -synonym: "autosomal recessive spastic paraplegia type 87" EXACT [MONDO:0858992] +synonym: "autosomal recessive spastic paraplegia type 87" EXACT [MONDO:0858992, Orphanet:631088] synonym: "spastic paraplegia 87, autosomal recessive" EXACT [OMIM:619966] -synonym: "SPG87" EXACT ABBREVIATION [OMIM:619966] +synonym: "SPG87" EXACT ABBREVIATION [DOID:0070456, OMIM:619966] xref: DOID:0070456 {source="MONDO:equivalentTo"} xref: MEDGEN:1813069 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619966 {source="MONDO:equivalentTo"} @@ -504452,8 +504546,8 @@ name: developmental and epileptic encephalopathy 104 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE104" EXACT ABBREVIATION [OMIM:619970] -synonym: "developmental and epileptic encephalopathy 104" EXACT [OMIM:619970] +synonym: "DEE104" EXACT ABBREVIATION [DOID:0070390, OMIM:619970] +synonym: "developmental and epileptic encephalopathy 104" EXACT [DOID:0070390, OMIM:619970] xref: DOID:0070390 {source="MONDO:equivalentTo"} xref: MEDGEN:1823956 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619970 {source="MONDO:equivalentTo"} @@ -504468,7 +504562,7 @@ def: "A developmental and epileptic encephalopathy characterized by onset of sei subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE105" EXACT ABBREVIATION [OMIM:619983] +synonym: "DEE105" EXACT ABBREVIATION [DOID:0070391, OMIM:619983] synonym: "developmental and epileptic encephalopathy 105 with hypopituitarism" EXACT [OMIM:619983] xref: DOID:0070391 {source="MONDO:equivalentTo"} xref: MEDGEN:1823963 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -504513,22 +504607,22 @@ subset: ordo_malformation_syndrome {source="Orphanet:221061"} subset: orphanet_rare {source="Orphanet:221061"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "cavernous angioma, familial" RELATED [OMIM:116860] -synonym: "cavernous angiomatous malformations" RELATED [OMIM:116860] -synonym: "cavernous malformations of CNS and retina" RELATED [OMIM:116860] -synonym: "CCM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:116860] -synonym: "cerebral capillary malformations" RELATED [OMIM:116860] -synonym: "cerebral cavernous malformations" RELATED [MONDO:Lexical, OMIM:116860] +synonym: "cavernous angioma, familial" RELATED [] +synonym: "cavernous angiomatous malformations" RELATED [] +synonym: "cavernous malformations of CNS and retina" RELATED [] +synonym: "CCM" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "cerebral capillary malformations" RELATED [] +synonym: "cerebral cavernous malformations" RELATED [MONDO:Lexical] synonym: "familial brain cavernous angioma" EXACT [Orphanet:221061] -synonym: "familial brain cavernous hemangioma" EXACT [Orphanet:221061] +synonym: "familial brain cavernous hemangioma" EXACT [] synonym: "familial cerebral cavernoma" EXACT [Orphanet:221061] -synonym: "familial cerebral cavernous malformation" EXACT [MONDO:0007291] +synonym: "familial cerebral cavernous malformation" EXACT [MONDO:0007291, Orphanet:221061] synonym: "famililal cerebral cavernous malformations" EXACT CLINGEN_LABEL [] synonym: "hereditary brain cavernous angioma" EXACT [Orphanet:221061] -synonym: "hereditary brain cavernous hemangioma" EXACT [Orphanet:221061] +synonym: "hereditary brain cavernous hemangioma" EXACT [] synonym: "hereditary cerebral cavernoma" EXACT [Orphanet:221061] synonym: "hereditary cerebral cavernous malformation" EXACT [MONDO:patterns/hereditary, Orphanet:221061] -synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [OMIM:116860] +synonym: "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations" RELATED [] xref: GARD:13641 {source="MONDO:GARD"} xref: ICD10CM:Q28.3 {source="Orphanet:221061/attributed", source="Orphanet:221061/ntbt", source="Orphanet:221061"} xref: MEDGEN:419031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -504563,7 +504657,7 @@ name: lymphatic malformation 12 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "central conducting lymphatic anomaly" EXACT [OMIM:620014] +synonym: "central conducting lymphatic anomaly" EXACT [DOID:0081030, OMIM:620014] synonym: "LMPHM12" EXACT ABBREVIATION [OMIM:620014] synonym: "lymphatic malformation 12" EXACT [OMIM:620014] xref: DOID:0081030 {source="MONDO:equivalentTo"} @@ -504592,7 +504686,7 @@ name: arthrogryposis, distal, IIa 11 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "arthrogryposis, distal, IIa 11" EXACT [OMIM:620019] +synonym: "arthrogryposis, distal, IIa 11" EXACT [] synonym: "DA11" EXACT ABBREVIATION [OMIM:620019] xref: MEDGEN:1823978 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620019 {source="MONDO:equivalentTo"} @@ -504605,7 +504699,7 @@ name: stickler syndrome, IIa 6 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "stickler syndrome, IIa 6" EXACT [OMIM:620022] +synonym: "stickler syndrome, IIa 6" EXACT [] synonym: "STL6" EXACT ABBREVIATION [OMIM:620022] xref: MEDGEN:1823980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620022 {source="MONDO:equivalentTo"} @@ -504619,8 +504713,8 @@ name: developmental and epileptic encephalopathy 106 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE106" EXACT ABBREVIATION [OMIM:620028] -synonym: "developmental and epileptic encephalopathy 106" EXACT [OMIM:620028] +synonym: "DEE106" EXACT ABBREVIATION [DOID:0070392, OMIM:620028] +synonym: "developmental and epileptic encephalopathy 106" EXACT [DOID:0070392, OMIM:620028] xref: DOID:0070392 {source="MONDO:equivalentTo"} xref: MEDGEN:1823985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620028 {source="MONDO:equivalentTo"} @@ -504648,8 +504742,8 @@ name: developmental and epileptic encephalopathy 107 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE107" EXACT ABBREVIATION [OMIM:620033] -synonym: "developmental and epileptic encephalopathy 107" EXACT [OMIM:620033] +synonym: "DEE107" EXACT ABBREVIATION [DOID:0070393, OMIM:620033] +synonym: "developmental and epileptic encephalopathy 107" EXACT [DOID:0070393, OMIM:620033] xref: DOID:0070393 {source="MONDO:equivalentTo"} xref: MEDGEN:1823988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620033 {source="MONDO:equivalentTo"} @@ -504690,7 +504784,7 @@ is_a: MONDO:0016660 {source="OMIM:620047"} ! autosomal recessive primary microce id: MONDO:0031061 name: nephrotic syndrome, IIa 26 subset: otar {source="MONDO:OTAR"} -synonym: "nephrotic syndrome, IIa 26" EXACT [OMIM:620049] +synonym: "nephrotic syndrome, IIa 26" EXACT [] synonym: "NPHS26" EXACT ABBREVIATION [OMIM:620049] xref: MEDGEN:1823994 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620049 {source="MONDO:equivalentTo"} @@ -504705,7 +504799,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "PKD7" EXACT ABBREVIATION [OMIM:620056] -synonym: "polycystic kidney disease 7" EXACT [OMIM:620056] +synonym: "polycystic kidney disease 7" EXACT [DOID:0060952, OMIM:620056] xref: DOID:0060952 {source="MONDO:equivalentTo"} xref: MEDGEN:1823995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620056 {source="MONDO:equivalentTo"} @@ -504720,8 +504814,8 @@ name: Charcot-Marie-Tooth disease, axonal, IIa 2II subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "charcot-marie-tooth disease, axonal, IIa 2II" EXACT [OMIM:620068] -synonym: "charcot-marie-tooth neuropathy, IIa 2II" EXACT [OMIM:620068] +synonym: "charcot-marie-tooth disease, axonal, IIa 2II" EXACT [] +synonym: "charcot-marie-tooth neuropathy, IIa 2II" EXACT [] synonym: "CMT2II" EXACT ABBREVIATION [OMIM:620068] xref: MEDGEN:1824000 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620068 {source="MONDO:equivalentTo"} @@ -504747,8 +504841,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0031077 name: spermatogenic failure 76 -synonym: "spermatogenic failure 76" EXACT [OMIM:620084] -synonym: "SPGF76" EXACT ABBREVIATION [OMIM:620084] +synonym: "spermatogenic failure 76" EXACT [DOID:0070575, OMIM:620084] +synonym: "SPGF76" EXACT ABBREVIATION [DOID:0070575, OMIM:620084] xref: DOID:0070575 {source="MONDO:equivalentTo"} xref: MEDGEN:1824009 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620084 {source="MONDO:equivalentTo"} @@ -504759,8 +504853,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0031083 name: spermatogenic failure 77 -synonym: "spermatogenic failure 77" EXACT [OMIM:620103] -synonym: "SPGF77" EXACT ABBREVIATION [OMIM:620103] +synonym: "spermatogenic failure 77" EXACT [DOID:0070576, OMIM:620103] +synonym: "SPGF77" EXACT ABBREVIATION [DOID:0070576, OMIM:620103] xref: DOID:0070576 {source="MONDO:equivalentTo"} xref: MEDGEN:1824018 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620103 {source="MONDO:equivalentTo"} @@ -504774,8 +504868,8 @@ name: amelogenesis imperfecta, IIa 1K subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "AI1K" EXACT ABBREVIATION [OMIM:620104] -synonym: "amelogenesis imperfecta, hypoplastic IIa 1K" EXACT [OMIM:620104] -synonym: "amelogenesis imperfecta, IIa 1K" EXACT [OMIM:620104] +synonym: "amelogenesis imperfecta, hypoplastic IIa 1K" EXACT [] +synonym: "amelogenesis imperfecta, IIa 1K" EXACT [] xref: DOID:0060945 {source="MONDO:equivalentTo"} xref: MEDGEN:1824019 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620104 {source="MONDO:equivalentTo"} @@ -504849,11 +504943,11 @@ subset: ordo_disorder {source="Orphanet:1662"} subset: orphanet_rare {source="Orphanet:1662"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "hyperkeratosis-contracture syndrome" NARROW [DOID:0060762] +synonym: "hyperkeratosis-contracture syndrome" NARROW [] synonym: "lethal hyperkeratosis-contracture syndrome" EXACT [Orphanet:1662] synonym: "lethal restrictive dermopathy" EXACT [DOID:0060762, Orphanet:1662] synonym: "lethal tight skin-contracture syndrome" EXACT [Orphanet:1662] -synonym: "tight skin contracture syndrome" EXACT [DOID:0060762, Orphanet:1662] +synonym: "tight skin contracture syndrome" EXACT [DOID:0060762] xref: DOID:0060762 {source="MONDO:equivalentTo"} xref: GARD:1516 {source="MONDO:GARD"} xref: MEDGEN:98356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -504971,24 +505065,24 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BDPLT2" EXACT ABBREVIATION [DOID:2219] -synonym: "bleeding disorder, Platelet-type, 2" RELATED [OMIM:273800] +synonym: "bleeding disorder, Platelet-type, 2" RELATED [] synonym: "deficiency of glycoprotein complex IIb-IIIa" EXACT [DOID:2219] synonym: "deficiency of GP 2B 3A complex" RELATED [GARD:0002478] synonym: "deficiency of GP IIb-IIIa complex" EXACT [DOID:2219] synonym: "deficiency of platelet fibrinogen receptor" EXACT [DOID:2219] synonym: "Diacyclothrombopathia 2B 3A" RELATED [GARD:0002478] -synonym: "Glanzmann thrombasthenia" BROAD [DOID:2219, MONDO:Lexical, OMIM:273800] -synonym: "Glanzmann thrombasthenia 1" EXACT CLINGEN_LABEL [] +synonym: "Glanzmann thrombasthenia" BROAD [MONDO:Lexical] +synonym: "Glanzmann thrombasthenia 1" EXACT CLINGEN_LABEL [OMIM:273800] synonym: "Glanzmann thrombasthenia type A" RELATED [GARD:0002478] synonym: "Glanzmann's thrombasthenia" BROAD [MONDO:0010119] -synonym: "glycoprotein Complex IIb-IIIa, deficiency of" RELATED [OMIM:273800] +synonym: "glycoprotein Complex IIb-IIIa, deficiency of" RELATED [] synonym: "glycoprotein IIb/IIIa defect" EXACT [DOID:2219] -synonym: "GP IIb-IIIa Complex, deficiency of" RELATED [OMIM:273800] -synonym: "GT" RELATED ABBREVIATION [MONDO:Lexical, OMIM:273800] -synonym: "Platelet fibrinogen receptor, deficiency of" RELATED [OMIM:273800] +synonym: "GP IIb-IIIa Complex, deficiency of" RELATED [] +synonym: "GT" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "Platelet fibrinogen receptor, deficiency of" RELATED [] synonym: "Platelet glycoprotein 2B 3A deficiency" RELATED [GARD:0002478] -synonym: "Platelet glycoprotein IIb-IIIa deficiency" RELATED [OMIM:273800] -synonym: "platelet glycoprotein IIb-IIIa deficiency" EXACT [DOID:2219] +synonym: "Platelet glycoprotein IIb-IIIa deficiency" RELATED [] +synonym: "platelet glycoprotein IIb-IIIa deficiency" EXACT [DOID:2219, OMIM:273800] synonym: "platelet-type bleeding disorder 2" EXACT [DOID:2219] synonym: "thrombasthenia" EXACT [NCIT:C61249] synonym: "thrombasthenia of Glanzmann and Naegeli" EXACT [DOID:2219, OMIM:273800] @@ -505071,9 +505165,9 @@ subset: ordo_disorder {source="Orphanet:659"} subset: orphanet_rare {source="Orphanet:659"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" EXACT [Orphanet:659] -synonym: "palmoplantar and periorificial keratoderma" EXACT [OMIM:614594, Orphanet:659] -synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" EXACT [MONDO:0019014, OMIM:614594] +synonym: "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" EXACT [DOID:0112011, Orphanet:659] +synonym: "palmoplantar and periorificial keratoderma" EXACT [DOID:0112011, Orphanet:659] +synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" EXACT [MONDO:0019014] xref: DOID:0112011 {source="MONDO:equivalentTo"} xref: GARD:4075 {source="MONDO:GARD"} xref: ICD10CM:Q82.8 {source="Orphanet:659", source="Orphanet:659/attributed", source="Orphanet:659/ntbt"} @@ -505128,7 +505222,7 @@ subset: orphanet_rare {source="Orphanet:238475"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FHCA1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:607748] -synonym: "hereditary hypercholanemia" BROAD [Orphanet:238475] +synonym: "hereditary hypercholanemia" BROAD [] xref: GARD:17173 {source="MONDO:GARD"} xref: MEDGEN:1781366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C564336 {source="MONDO:equivalentTo"} @@ -505160,8 +505254,8 @@ subset: orphanet_rare {source="Orphanet:306558"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MEDS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614231] -synonym: "microcephaly, epilepsy, and diabetes syndrome" BROAD [MONDO:Lexical, OMIM:614231, OMIM:genemap2] -synonym: "primary microcephaly-epilepsy-permanent neonatal diabetes syndrome" EXACT [MONDO:0013647] +synonym: "microcephaly, epilepsy, and diabetes syndrome" BROAD [MONDO:Lexical] +synonym: "primary microcephaly-epilepsy-permanent neonatal diabetes syndrome" EXACT [MONDO:0013647, Orphanet:306558] xref: GARD:18438 {source="MONDO:GARD"} xref: OMIM:614231 {source="Orphanet:306558", source="MONDO:equivalentTo", source="Orphanet:306558/e"} xref: Orphanet:306558 {source="MONDO:equivalentTo", source="OMIM:614231"} @@ -505317,9 +505411,9 @@ subset: gard_rare {source="GARD:18514", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 61" RELATED [OMIM:618009] -synonym: "Mental Retardation, Autosomal Dominant 61" RELATED [OMIM:618009] -synonym: "MRD61" RELATED ABBREVIATION [OMIM:618009] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 61" RELATED [] +synonym: "Mental Retardation, Autosomal Dominant 61" RELATED [] +synonym: "MRD61" RELATED ABBREVIATION [] xref: GARD:18514 {source="MONDO:GARD"} xref: MEDGEN:1684867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618009 {source="MONDO:equivalentTo"} @@ -505336,8 +505430,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:631103"} subset: orphanet_rare {source="Orphanet:631103"} subset: rare -synonym: "SCA48" RELATED ABBREVIATION [OMIM:618093] -synonym: "SPINOCEREBELLAR ATAXIA 48" RELATED [OMIM:618093] +synonym: "SCA48" RELATED ABBREVIATION [] +synonym: "SPINOCEREBELLAR ATAXIA 48" RELATED [] xref: DOID:0111746 {source="MONDO:equivalentTo"} xref: MEDGEN:1648409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618093 {source="MONDO:equivalentTo"} @@ -505353,8 +505447,8 @@ name: hennekam lymphangiectasia-lymphedema syndrome 3 subset: gard_rare {source="GARD:16296", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3" RELATED [OMIM:618154] -synonym: "HKLLS3" RELATED ABBREVIATION [OMIM:618154] +synonym: "HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3" RELATED [] +synonym: "HKLLS3" RELATED ABBREVIATION [] xref: GARD:16296 {source="MONDO:GARD"} xref: MEDGEN:1648368 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618154 {source="MONDO:equivalentTo"} @@ -505367,8 +505461,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032565 name: ophthalmoplegia, external, with rib and vertebral anomalies -synonym: "EORVA" RELATED ABBREVIATION [OMIM:618155] -synonym: "OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES" RELATED [OMIM:618155] +synonym: "EORVA" RELATED ABBREVIATION [] +synonym: "OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES" RELATED [] xref: MEDGEN:1648445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618155 {source="MONDO:equivalentTo"} xref: UMLS:C4748418 {source="MEDGEN:1648445", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505378,9 +505472,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032566 name: squalene synthase deficiency -synonym: "neurodevelopmental disorder with low cholesterol and abnormal urine organic acids" RELATED [OMIM:618156] -synonym: "SQSD" RELATED ABBREVIATION [OMIM:618156] -synonym: "SQUALENE SYNTHASE DEFICIENCY" RELATED [OMIM:618156] +synonym: "neurodevelopmental disorder with low cholesterol and abnormal urine organic acids" RELATED [] +synonym: "SQSD" RELATED ABBREVIATION [] +synonym: "SQUALENE SYNTHASE DEFICIENCY" RELATED [] xref: MEDGEN:1648421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618156 {source="MONDO:equivalentTo"} xref: UMLS:C4748427 {source="MEDGEN:1648421", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505393,12 +505487,12 @@ name: isolated growth hormone deficiency, type 4 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Dwarfism of Sindh" RELATED [OMIM:618157] -synonym: "growth hormone deficiency, isolated, type IV" EXACT [OMIM:618157, OMIM:genemap2] -synonym: "IGHD4" RELATED ABBREVIATION [OMIM:618157] -synonym: "Isolated Growth Hormone Deficiency, Type Ib" RELATED [OMIM:618157] -synonym: "Isolated Growth Hormone Deficiency, Type Ib, Formerly" RELATED [OMIM:618157] -synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV" RELATED [OMIM:618157] +synonym: "Dwarfism of Sindh" RELATED [] +synonym: "growth hormone deficiency, isolated, type IV" EXACT [] +synonym: "IGHD4" RELATED ABBREVIATION [] +synonym: "Isolated Growth Hormone Deficiency, Type Ib" RELATED [] +synonym: "Isolated Growth Hormone Deficiency, Type Ib, Formerly" RELATED [] +synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV" RELATED [] xref: MEDGEN:1648300 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618157 {source="MONDO:equivalentTo"} xref: Orphanet:231671 {source="OMIM:618157"} @@ -505411,8 +505505,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032568 name: intellectual developmental disorder with macrocephaly, seizures, and speech delay -synonym: "IDDMSSD" RELATED ABBREVIATION [OMIM:618158] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY" RELATED [OMIM:618158] +synonym: "IDDMSSD" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY" RELATED [] xref: MEDGEN:1648339 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618158 {source="MONDO:equivalentTo"} xref: UMLS:C4748428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648339"} @@ -505425,9 +505519,9 @@ name: isolated growth hormone deficiency, type 5 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "IGHD5" RELATED ABBREVIATION [OMIM:618160] -synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V" RELATED [OMIM:618160] -synonym: "pituitary hormone deficiency, combined or isolated, 7" EXACT [OMIM:618160, OMIM:genemap2] +synonym: "IGHD5" RELATED ABBREVIATION [] +synonym: "ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V" RELATED [] +synonym: "pituitary hormone deficiency, combined or isolated, 7" EXACT [OMIM:618160] xref: MEDGEN:1648500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618160 {source="MONDO:equivalentTo"} xref: Orphanet:231662 {source="OMIM:618160"} @@ -505443,8 +505537,8 @@ name: Joubert syndrome 35 subset: gard_rare {source="GARD:16297", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "JBTS35" RELATED ABBREVIATION [OMIM:618161] -synonym: "JOUBERT SYNDROME 35" RELATED [OMIM:618161] +synonym: "JBTS35" RELATED ABBREVIATION [] +synonym: "JOUBERT SYNDROME 35" RELATED [] xref: GARD:16297 {source="MONDO:GARD"} xref: MEDGEN:1648453 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618161 {source="MONDO:equivalentTo"} @@ -505460,9 +505554,9 @@ name: spondyloepimetaphyseal dysplasia, Krakow type subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Immunoosseous Dysplasia, Krakow Type" RELATED [OMIM:618162] -synonym: "SEMDK" RELATED ABBREVIATION [OMIM:618162] -synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE" RELATED [OMIM:618162] +synonym: "Immunoosseous Dysplasia, Krakow Type" RELATED [] +synonym: "SEMDK" RELATED ABBREVIATION [] +synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE" RELATED [] xref: MEDGEN:1648323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618162 {source="MONDO:equivalentTo"} xref: UMLS:C4748455 {source="MEDGEN:1648323", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505474,8 +505568,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032572 name: cardiac, facial, and digital anomalies with developmental delay -synonym: "CAFDADD" RELATED ABBREVIATION [OMIM:618164] -synonym: "CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY" RELATED [OMIM:618164] +synonym: "CAFDADD" RELATED ABBREVIATION [] +synonym: "CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY" RELATED [] xref: MEDGEN:1648330 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C179868 {source="MONDO:equivalentTo"} xref: OMIM:618164 {source="MONDO:equivalentTo"} @@ -505489,8 +505583,8 @@ name: bone marrow failure syndrome 5 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BMFS5" RELATED ABBREVIATION [OMIM:618165] -synonym: "BONE MARROW FAILURE SYNDROME 5" RELATED [OMIM:618165] +synonym: "BMFS5" RELATED ABBREVIATION [] +synonym: "BONE MARROW FAILURE SYNDROME 5" RELATED [] xref: MEDGEN:1648380 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618165 {source="MONDO:equivalentTo"} xref: UMLS:C4748488 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648380"} @@ -505501,8 +505595,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032574 name: osteochondrodysplasia, brachydactyly, and overlapping malformed digits -synonym: "OCBMD" RELATED ABBREVIATION [OMIM:618167] -synonym: "OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS" RELATED [OMIM:618167] +synonym: "OCBMD" RELATED ABBREVIATION [] +synonym: "OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS" RELATED [] xref: MEDGEN:1648332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618167 {source="MONDO:equivalentTo"} xref: UMLS:C4748496 {source="MEDGEN:1648332", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505511,8 +505605,8 @@ is_a: MONDO:0003847 {source="OMIM:618167"} ! hereditary disease [Term] id: MONDO:0032575 name: diarrhea 9 -synonym: "DIAR9" RELATED ABBREVIATION [OMIM:618168] -synonym: "DIARRHEA 9" RELATED [OMIM:618168] +synonym: "DIAR9" RELATED ABBREVIATION [] +synonym: "DIARRHEA 9" RELATED [] xref: MEDGEN:1648425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618168 {source="MONDO:equivalentTo"} xref: UMLS:C4748517 {source="MEDGEN:1648425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505533,8 +505627,8 @@ name: retinitis pigmentosa 83 subset: gard_rare {source="GARD:16298", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RETINITIS PIGMENTOSA 83" RELATED [OMIM:618173] -synonym: "RP83" RELATED ABBREVIATION [OMIM:618173] +synonym: "RETINITIS PIGMENTOSA 83" RELATED [] +synonym: "RP83" RELATED ABBREVIATION [] xref: DOID:0112140 {source="MONDO:equivalentTo"} xref: GARD:16298 {source="MONDO:GARD"} xref: MEDGEN:1648404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505548,8 +505642,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032578 name: cortical dysplasia, complex, with other brain malformations 9 -synonym: "CDCBM9" RELATED ABBREVIATION [OMIM:618174] -synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9" RELATED [OMIM:618174] +synonym: "CDCBM9" RELATED ABBREVIATION [] +synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9" RELATED [] xref: MEDGEN:1648399 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618174 {source="MONDO:equivalentTo"} xref: UMLS:C4748540 {source="MEDGEN:1648399", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505561,8 +505655,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032579 name: warburg-cinotti syndrome subset: clingen {source="MONDO:CLINGEN"} -synonym: "WARBURG-CINOTTI SYNDROME" RELATED [OMIM:618175] -synonym: "WRCN" RELATED ABBREVIATION [OMIM:618175] +synonym: "WARBURG-CINOTTI SYNDROME" RELATED [] +synonym: "WRCN" RELATED ABBREVIATION [] xref: MEDGEN:1677486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618175 {source="MONDO:equivalentTo"} xref: UMLS:C5193019 {source="MONDO:equivalentTo", source="MEDGEN:1677486", source="MONDO:MEDGEN"} @@ -505575,8 +505669,8 @@ id: MONDO:0032580 name: nephrotic syndrome, type 17 subset: gard_rare {source="GARD:16299", source="MONDO:GARD"} subset: rare -synonym: "NEPHROTIC SYNDROME, TYPE 17" RELATED [OMIM:618176] -synonym: "NPHS17" RELATED ABBREVIATION [OMIM:618176] +synonym: "NEPHROTIC SYNDROME, TYPE 17" RELATED [] +synonym: "NPHS17" RELATED ABBREVIATION [] xref: DOID:0080392 {source="MONDO:equivalentTo"} xref: GARD:16299 {source="MONDO:GARD"} xref: MEDGEN:1648294 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505592,8 +505686,8 @@ id: MONDO:0032581 name: nephrotic syndrome, type 18 subset: gard_rare {source="GARD:16300", source="MONDO:GARD"} subset: rare -synonym: "NEPHROTIC SYNDROME, TYPE 18" RELATED [OMIM:618177] -synonym: "NPHS18" RELATED ABBREVIATION [OMIM:618177] +synonym: "NEPHROTIC SYNDROME, TYPE 18" RELATED [] +synonym: "NPHS18" RELATED ABBREVIATION [] xref: DOID:0080393 {source="MONDO:equivalentTo"} xref: GARD:16300 {source="MONDO:GARD"} xref: MEDGEN:1648464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505609,8 +505703,8 @@ id: MONDO:0032582 name: nephrotic syndrome, type 19 subset: gard_rare {source="GARD:16301", source="MONDO:GARD"} subset: rare -synonym: "NEPHROTIC SYNDROME, TYPE 19" RELATED [OMIM:618178] -synonym: "NPHS19" RELATED ABBREVIATION [OMIM:618178] +synonym: "NEPHROTIC SYNDROME, TYPE 19" RELATED [] +synonym: "NPHS19" RELATED ABBREVIATION [] xref: DOID:0080394 {source="MONDO:equivalentTo"} xref: GARD:16301 {source="MONDO:GARD"} xref: MEDGEN:1648305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505626,8 +505720,8 @@ name: microcephaly 24, primary, autosomal recessive subset: gard_rare {source="GARD:16302", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH24" RELATED ABBREVIATION [OMIM:618179] -synonym: "MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE" RELATED [OMIM:618179] +synonym: "MCPH24" RELATED ABBREVIATION [] +synonym: "MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE" RELATED [] xref: GARD:16302 {source="MONDO:GARD"} xref: MEDGEN:1648413 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618179 {source="MONDO:equivalentTo"} @@ -505642,8 +505736,8 @@ name: ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD14" RELATED ABBREVIATION [OMIM:618180] -synonym: "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS" RELATED [OMIM:618180] +synonym: "ECTD14" RELATED ABBREVIATION [] +synonym: "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS" RELATED [] xref: DOID:0111662 {source="MONDO:equivalentTo"} xref: MEDGEN:1648329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618180 {source="MONDO:equivalentTo"} @@ -505655,8 +505749,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032586 name: diarrhea 10, protein-losing enteropathy type -synonym: "DIAR10" RELATED ABBREVIATION [OMIM:618183] -synonym: "DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE" RELATED [OMIM:618183] +synonym: "DIAR10" RELATED ABBREVIATION [] +synonym: "DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE" RELATED [] xref: MEDGEN:1648311 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618183 {source="MONDO:equivalentTo"} xref: Orphanet:329242 {source="OMIM:618183"} @@ -505671,8 +505765,8 @@ name: periventricular nodular heterotopia 8 subset: gard_rare {source="GARD:16303", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PERIVENTRICULAR NODULAR HETEROTOPIA 8" RELATED [OMIM:618185] -synonym: "PVNH8" RELATED ABBREVIATION [OMIM:618185] +synonym: "PERIVENTRICULAR NODULAR HETEROTOPIA 8" RELATED [] +synonym: "PVNH8" RELATED ABBREVIATION [] xref: GARD:16303 {source="MONDO:GARD"} xref: MEDGEN:1648287 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618185 {source="MONDO:equivalentTo"} @@ -505688,8 +505782,8 @@ name: ovarian dysgenesis 8 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ODG8" RELATED ABBREVIATION [OMIM:618187] -synonym: "OVARIAN DYSGENESIS 8" RELATED [OMIM:618187] +synonym: "ODG8" RELATED ABBREVIATION [] +synonym: "OVARIAN DYSGENESIS 8" RELATED [] xref: DOID:0080500 {source="MONDO:equivalentTo"} xref: MEDGEN:1648455 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618187 {source="MONDO:equivalentTo"} @@ -505724,8 +505818,8 @@ def: "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy o subset: gard_rare {source="GARD:16305", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CARDIOMYOPATHY, DILATED, 2C" RELATED [OMIM:618189] -synonym: "CMD2C" RELATED ABBREVIATION [OMIM:618189] +synonym: "CARDIOMYOPATHY, DILATED, 2C" RELATED [] +synonym: "CMD2C" RELATED ABBREVIATION [] xref: DOID:0081159 {source="MONDO:equivalentTo"} xref: GARD:16305 {source="MONDO:GARD"} xref: MEDGEN:1648379 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505743,8 +505837,8 @@ name: intellectual developmental disorder and retinitis pigmentosa; IDDRP subset: gard_rare {source="GARD:16306", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IDDRP" RELATED ABBREVIATION [OMIM:618195] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA" RELATED [OMIM:618195] +synonym: "IDDRP" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA" RELATED [] xref: GARD:16306 {source="MONDO:GARD"} xref: MEDGEN:1648358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618195 {source="MONDO:equivalentTo"} @@ -505761,8 +505855,8 @@ name: myasthenic syndrome, congenital, 23, presynaptic subset: gard_rare {source="GARD:16308", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS23" RELATED ABBREVIATION [OMIM:618197] -synonym: "MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC" RELATED [OMIM:618197] +synonym: "CMS23" RELATED ABBREVIATION [] +synonym: "MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC" RELATED [] xref: GARD:16308 {source="MONDO:GARD"} xref: MEDGEN:1648392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618197 {source="MONDO:equivalentTo"} @@ -505780,8 +505874,8 @@ name: myasthenic syndrome, congenital, 24, presynaptic subset: gard_rare {source="GARD:16309", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS24" RELATED ABBREVIATION [OMIM:618198] -synonym: "MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC" RELATED [OMIM:618198] +synonym: "CMS24" RELATED ABBREVIATION [] +synonym: "MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC" RELATED [] xref: GARD:16309 {source="MONDO:GARD"} xref: MEDGEN:1648337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618198 {source="MONDO:equivalentTo"} @@ -505799,9 +505893,9 @@ name: developmental and epileptic encephalopathy, 68 subset: gard_rare {source="GARD:16310", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE68" EXACT ABBREVIATION [OMIM:618201] -synonym: "developmental and epileptic encephalopathy 68" EXACT [OMIM:618201, OMIM:genemap2] -synonym: "EIEE68" EXACT ABBREVIATION [OMIM:618201] +synonym: "DEE68" EXACT ABBREVIATION [DOID:0112204, OMIM:618201] +synonym: "developmental and epileptic encephalopathy 68" EXACT [DOID:0112204, OMIM:618201] +synonym: "EIEE68" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68" EXACT [OMIM:618201] synonym: "epileptic encephalopathy, early infantile, 68" EXACT [OMIM:618201] xref: DOID:0112204 {source="MONDO:equivalentTo"} @@ -505820,8 +505914,8 @@ id: MONDO:0032599 name: immunodeficiency 15a subset: gard_rare {source="GARD:18469", source="MONDO:GARD"} subset: rare -synonym: "IMD15A" RELATED ABBREVIATION [OMIM:618204] -synonym: "IMMUNODEFICIENCY 15A" RELATED [OMIM:618204] +synonym: "IMD15A" RELATED ABBREVIATION [] +synonym: "IMMUNODEFICIENCY 15A" RELATED [] xref: DOID:0111960 {source="MONDO:equivalentTo"} xref: GARD:18469 {source="MONDO:GARD"} xref: MEDGEN:1648385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505841,10 +505935,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:599082"} subset: orphanet_rare {source="Orphanet:599082"} subset: rare -synonym: "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome" EXACT [https://orcid.org/0000-0001-9310-0163] +synonym: "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome" EXACT [https://orcid.org/0000-0001-9310-0163, Orphanet:599082] synonym: "intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies" EXACT [OMIM:618205] -synonym: "SNIBCPS" RELATED ABBREVIATION [OMIM:618205] -synonym: "SNIJDERS BLOK-CAMPEAU SYNDROME" RELATED [OMIM:618205] +synonym: "SNIBCPS" RELATED ABBREVIATION [] +synonym: "SNIJDERS BLOK-CAMPEAU SYNDROME" RELATED [] xref: GARD:13806 {source="MONDO:GARD"} xref: MEDGEN:1648495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618205 {source="MONDO:equivalentTo"} @@ -505863,8 +505957,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:565788"} subset: orphanet_rare {source="Orphanet:565788"} subset: rare -synonym: "IBDIMDE" RELATED ABBREVIATION [OMIM:618213] -synonym: "INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY" RELATED [OMIM:618213] +synonym: "IBDIMDE" RELATED ABBREVIATION [] +synonym: "INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY" RELATED [] xref: GARD:18000 {source="MONDO:GARD"} xref: MEDGEN:1648434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618213 {source="MONDO:equivalentTo"} @@ -505879,8 +505973,8 @@ name: polydactyly, postaxial, type A9 subset: gard_rare {source="GARD:18177", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PAPA9" RELATED ABBREVIATION [OMIM:618219] -synonym: "POLYDACTYLY, POSTAXIAL, TYPE A9" RELATED [OMIM:618219] +synonym: "PAPA9" RELATED ABBREVIATION [] +synonym: "POLYDACTYLY, POSTAXIAL, TYPE A9" RELATED [] xref: GARD:18177 {source="MONDO:GARD"} xref: MEDGEN:1648428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618219 {source="MONDO:equivalentTo"} @@ -505895,8 +505989,8 @@ name: retinitis pigmentosa 84 subset: gard_rare {source="GARD:16311", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RETINITIS PIGMENTOSA 84" RELATED [OMIM:618220] -synonym: "RP84" RELATED ABBREVIATION [OMIM:618220] +synonym: "RETINITIS PIGMENTOSA 84" RELATED [] +synonym: "RP84" RELATED ABBREVIATION [] xref: DOID:0112141 {source="MONDO:equivalentTo"} xref: GARD:16311 {source="MONDO:GARD"} xref: MEDGEN:1648352 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505913,9 +506007,9 @@ name: intellectual disability, autosomal recessive 66 subset: gard_rare {source="GARD:22579", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, autosomal recessive 66" EXACT [OMIM:618221, OMIM:genemap2] -synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66" RELATED [OMIM:618221] -synonym: "MRT66" RELATED ABBREVIATION [OMIM:618221] +synonym: "intellectual developmental disorder, autosomal recessive 66" EXACT [OMIM:618221] +synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66" RELATED [] +synonym: "MRT66" RELATED ABBREVIATION [] xref: DOID:0081227 {source="MONDO:equivalentTo"} xref: GARD:22579 {source="MONDO:GARD"} xref: MEDGEN:1648460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505931,8 +506025,8 @@ id: MONDO:0032606 name: mitochondrial complex 1 deficiency, nuclear type 2 subset: gard_rare {source="GARD:16312", source="MONDO:GARD"} subset: rare -synonym: "MC1DN2" RELATED ABBREVIATION [OMIM:618222] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2" RELATED [OMIM:618222] +synonym: "MC1DN2" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2" RELATED [] xref: DOID:0112083 {source="MONDO:equivalentTo"} xref: GARD:16312 {source="MONDO:GARD"} xref: MEDGEN:1648466 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505949,8 +506043,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032607 name: vertebral anomalies and variable endocrine and T-cell dysfunction -synonym: "VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION" RELATED [OMIM:618223] -synonym: "VETD" RELATED ABBREVIATION [OMIM:618223] +synonym: "VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION" RELATED [] +synonym: "VETD" RELATED ABBREVIATION [] xref: DOID:0070345 {source="MONDO:equivalentTo"} xref: MEDGEN:1648299 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618223 {source="MONDO:equivalentTo"} @@ -505963,8 +506057,8 @@ id: MONDO:0032608 name: mitochondrial complex 1 deficiency, nuclear type 3 subset: gard_rare {source="GARD:16313", source="MONDO:GARD"} subset: rare -synonym: "MC1DN3" RELATED ABBREVIATION [OMIM:618224] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3" RELATED [OMIM:618224] +synonym: "MC1DN3" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3" RELATED [] xref: DOID:0112093 {source="MONDO:equivalentTo"} xref: GARD:16313 {source="MONDO:GARD"} xref: MEDGEN:1648346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -505983,8 +506077,8 @@ id: MONDO:0032609 name: mitochondrial complex 1 deficiency, nuclear type 4 subset: gard_rare {source="GARD:16314", source="MONDO:GARD"} subset: rare -synonym: "MC1DN4" RELATED ABBREVIATION [OMIM:618225] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4" RELATED [OMIM:618225] +synonym: "MC1DN4" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4" RELATED [] xref: DOID:0112082 {source="MONDO:equivalentTo"} xref: GARD:16314 {source="MONDO:GARD"} xref: MEDGEN:1648324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506004,8 +506098,8 @@ name: mitochondrial complex 1 deficiency, nuclear type 5 subset: gard_rare {source="GARD:16315", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC1DN5" RELATED ABBREVIATION [OMIM:618226] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5" RELATED [OMIM:618226] +synonym: "MC1DN5" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5" RELATED [] xref: DOID:0112068 {source="MONDO:equivalentTo"} xref: GARD:16315 {source="MONDO:GARD"} xref: MEDGEN:1648292 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506024,8 +506118,8 @@ id: MONDO:0032611 name: mitochondrial complex 1 deficiency, nuclear type 6 subset: gard_rare {source="GARD:16316", source="MONDO:GARD"} subset: rare -synonym: "MC1DN6" RELATED ABBREVIATION [OMIM:618228] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6" RELATED [OMIM:618228] +synonym: "MC1DN6" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6" RELATED [] xref: DOID:0112066 {source="MONDO:equivalentTo"} xref: GARD:16316 {source="MONDO:GARD"} xref: MEDGEN:1648496 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506045,8 +506139,8 @@ id: MONDO:0032612 name: mitochondrial complex 1 deficiency, nuclear type 7 subset: gard_rare {source="GARD:16317", source="MONDO:GARD"} subset: rare -synonym: "MC1DN7" RELATED ABBREVIATION [OMIM:618229] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7" RELATED [OMIM:618229] +synonym: "MC1DN7" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7" RELATED [] xref: DOID:0112092 {source="MONDO:equivalentTo"} xref: GARD:16317 {source="MONDO:GARD"} xref: MEDGEN:1648484 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506065,8 +506159,8 @@ id: MONDO:0032613 name: mitochondrial complex 1 deficiency, nuclear type 8 subset: gard_rare {source="GARD:16318", source="MONDO:GARD"} subset: rare -synonym: "MC1DN8" RELATED ABBREVIATION [OMIM:618230] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8" RELATED [OMIM:618230] +synonym: "MC1DN8" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8" RELATED [] xref: DOID:0112081 {source="MONDO:equivalentTo"} xref: GARD:16318 {source="MONDO:GARD"} xref: MEDGEN:1648411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506083,9 +506177,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032614 name: epidermodysplasia verruciformis, susceptibility to, 2 -synonym: "epidermodysplasia verruciformis 2" EXACT [OMIM:618231, OMIM:genemap2] -synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2" RELATED [OMIM:618231] -synonym: "EV2" RELATED ABBREVIATION [OMIM:618231] +synonym: "epidermodysplasia verruciformis 2" EXACT [] +synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2" RELATED [] +synonym: "EV2" RELATED ABBREVIATION [] xref: MEDGEN:1648344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618231 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:618231"} @@ -506101,8 +506195,8 @@ id: MONDO:0032615 name: mitochondrial complex 1 deficiency, nuclear type 9 subset: gard_rare {source="GARD:16319", source="MONDO:GARD"} subset: rare -synonym: "MC1DN9" RELATED ABBREVIATION [OMIM:618232] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9" RELATED [OMIM:618232] +synonym: "MC1DN9" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9" RELATED [] xref: DOID:0112073 {source="MONDO:equivalentTo"} xref: GARD:16319 {source="MONDO:GARD"} xref: MEDGEN:1648447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506120,8 +506214,8 @@ id: MONDO:0032616 name: mitochondrial complex 1 deficiency, nuclear type 10 subset: gard_rare {source="GARD:16320", source="MONDO:GARD"} subset: rare -synonym: "MC1DN10" RELATED ABBREVIATION [OMIM:618233] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10" RELATED [OMIM:618233] +synonym: "MC1DN10" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10" RELATED [] xref: DOID:0112075 {source="MONDO:equivalentTo"} xref: GARD:16320 {source="MONDO:GARD"} xref: MEDGEN:1648426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506140,8 +506234,8 @@ id: MONDO:0032617 name: mitochondrial complex 1 deficiency, nuclear type 11 subset: gard_rare {source="GARD:16321", source="MONDO:GARD"} subset: rare -synonym: "MC1DN11" RELATED ABBREVIATION [OMIM:618234] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11" RELATED [OMIM:618234] +synonym: "MC1DN11" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11" RELATED [] xref: DOID:0112089 {source="MONDO:equivalentTo"} xref: GARD:16321 {source="MONDO:GARD"} xref: MEDGEN:1648356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506159,8 +506253,8 @@ id: MONDO:0032618 name: mitochondrial complex 1 deficiency, nuclear type 13 subset: gard_rare {source="GARD:18371", source="MONDO:GARD"} subset: rare -synonym: "MC1DN13" RELATED ABBREVIATION [OMIM:618235] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13" RELATED [OMIM:618235] +synonym: "MC1DN13" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13" RELATED [] xref: DOID:0112076 {source="MONDO:equivalentTo"} xref: GARD:18371 {source="MONDO:GARD"} xref: MEDGEN:1648370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506178,8 +506272,8 @@ id: MONDO:0032619 name: mitochondrial complex 1 deficiency, nuclear type 14 subset: gard_rare {source="GARD:16322", source="MONDO:GARD"} subset: rare -synonym: "MC1DN14" RELATED ABBREVIATION [OMIM:618236] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14" RELATED [OMIM:618236] +synonym: "MC1DN14" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14" RELATED [] xref: DOID:0112094 {source="MONDO:equivalentTo"} xref: GARD:16322 {source="MONDO:GARD"} xref: MEDGEN:1648440 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506197,8 +506291,8 @@ id: MONDO:0032620 name: mitochondrial complex 1 deficiency, nuclear type 15 subset: gard_rare {source="GARD:16323", source="MONDO:GARD"} subset: rare -synonym: "MC1DN15" RELATED ABBREVIATION [OMIM:618237] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15" RELATED [OMIM:618237] +synonym: "MC1DN15" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15" RELATED [] xref: DOID:0112077 {source="MONDO:equivalentTo"} xref: GARD:16323 {source="MONDO:GARD"} xref: MEDGEN:1648320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506216,8 +506310,8 @@ id: MONDO:0032621 name: mitochondrial complex 1 deficiency, nuclear type 16 subset: gard_rare {source="GARD:16324", source="MONDO:GARD"} subset: rare -synonym: "MC1DN16" RELATED ABBREVIATION [OMIM:618238] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16" RELATED [OMIM:618238] +synonym: "MC1DN16" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16" RELATED [] xref: DOID:0112096 {source="MONDO:equivalentTo"} xref: GARD:16324 {source="MONDO:GARD"} xref: MEDGEN:1648351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506235,8 +506329,8 @@ id: MONDO:0032622 name: mitochondrial complex 1 deficiency, nuclear type 17 subset: gard_rare {source="GARD:18372", source="MONDO:GARD"} subset: rare -synonym: "MC1DN17" RELATED ABBREVIATION [OMIM:618239] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17" RELATED [OMIM:618239] +synonym: "MC1DN17" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17" RELATED [] xref: DOID:0112078 {source="MONDO:equivalentTo"} xref: GARD:18372 {source="MONDO:GARD"} xref: MEDGEN:1648418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506254,8 +506348,8 @@ id: MONDO:0032623 name: mitochondrial complex 1 deficiency, nuclear type 18 subset: gard_rare {source="GARD:16325", source="MONDO:GARD"} subset: rare -synonym: "MC1DN18" RELATED ABBREVIATION [OMIM:618240] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18" RELATED [OMIM:618240] +synonym: "MC1DN18" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18" RELATED [] xref: DOID:0112070 {source="MONDO:equivalentTo"} xref: GARD:16325 {source="MONDO:GARD"} xref: MEDGEN:1648321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506274,8 +506368,8 @@ id: MONDO:0032624 name: mitochondrial complex 1 deficiency, nuclear type 19 subset: gard_rare {source="GARD:16326", source="MONDO:GARD"} subset: rare -synonym: "MC1DN19" RELATED ABBREVIATION [OMIM:618241] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19" RELATED [OMIM:618241] +synonym: "MC1DN19" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19" RELATED [] xref: DOID:0112085 {source="MONDO:equivalentTo"} xref: GARD:16326 {source="MONDO:GARD"} xref: MEDGEN:1648450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506294,8 +506388,8 @@ id: MONDO:0032625 name: mitochondrial complex 1 deficiency, nuclear type 21 subset: gard_rare {source="GARD:16327", source="MONDO:GARD"} subset: rare -synonym: "MC1DN21" RELATED ABBREVIATION [OMIM:618242] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21" RELATED [OMIM:618242] +synonym: "MC1DN21" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21" RELATED [] xref: DOID:0112088 {source="MONDO:equivalentTo"} xref: GARD:16327 {source="MONDO:GARD"} xref: MEDGEN:1648383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506313,8 +506407,8 @@ id: MONDO:0032626 name: mitochondrial complex 1 deficiency, nuclear type 22 subset: gard_rare {source="GARD:18373", source="MONDO:GARD"} subset: rare -synonym: "MC1DN22" RELATED ABBREVIATION [OMIM:618243] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22" RELATED [OMIM:618243] +synonym: "MC1DN22" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22" RELATED [] xref: DOID:0112069 {source="MONDO:equivalentTo"} xref: GARD:18373 {source="MONDO:GARD"} xref: MEDGEN:1648347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506332,8 +506426,8 @@ id: MONDO:0032627 name: mitochondrial complex 1 deficiency, nuclear type 23 subset: gard_rare {source="GARD:18374", source="MONDO:GARD"} subset: rare -synonym: "MC1DN23" RELATED ABBREVIATION [OMIM:618244] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23" RELATED [OMIM:618244] +synonym: "MC1DN23" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23" RELATED [] xref: DOID:0112087 {source="MONDO:equivalentTo"} xref: GARD:18374 {source="MONDO:GARD"} xref: MEDGEN:1648408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506351,8 +506445,8 @@ id: MONDO:0032628 name: mitochondrial complex 1 deficiency, nuclear type 24 subset: gard_rare {source="GARD:16328", source="MONDO:GARD"} subset: rare -synonym: "MC1DN24" RELATED ABBREVIATION [OMIM:618245] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24" RELATED [OMIM:618245] +synonym: "MC1DN24" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24" RELATED [] xref: DOID:0112079 {source="MONDO:equivalentTo"} xref: GARD:16328 {source="MONDO:GARD"} xref: MEDGEN:1648364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506369,8 +506463,8 @@ id: MONDO:0032629 name: mitochondrial complex 1 deficiency, nuclear type 25 subset: gard_rare {source="GARD:16329", source="MONDO:GARD"} subset: rare -synonym: "MC1DN25" RELATED ABBREVIATION [OMIM:618246] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25" RELATED [OMIM:618246] +synonym: "MC1DN25" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25" RELATED [] xref: DOID:0112067 {source="MONDO:equivalentTo"} xref: GARD:16329 {source="MONDO:GARD"} xref: MEDGEN:1648366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506388,8 +506482,8 @@ id: MONDO:0032630 name: mitochondrial complex 1 deficiency, nuclear type 26 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "MC1DN26" RELATED ABBREVIATION [OMIM:618247] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26" RELATED [OMIM:618247] +synonym: "MC1DN26" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26" RELATED [] xref: DOID:0112086 {source="MONDO:equivalentTo"} xref: MEDGEN:1648283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618247 {source="MONDO:equivalentTo"} @@ -506405,8 +506499,8 @@ id: MONDO:0032631 name: mitochondrial complex 1 deficiency, nuclear type 27 subset: gard_rare {source="GARD:18375", source="MONDO:GARD"} subset: rare -synonym: "MC1DN27" RELATED ABBREVIATION [OMIM:618248] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27" RELATED [OMIM:618248] +synonym: "MC1DN27" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27" RELATED [] xref: DOID:0112090 {source="MONDO:equivalentTo"} xref: GARD:18375 {source="MONDO:GARD"} xref: MEDGEN:1648481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506424,8 +506518,8 @@ id: MONDO:0032632 name: mitochondrial complex 1 deficiency, nuclear type 28 subset: gard_rare {source="GARD:18376", source="MONDO:GARD"} subset: rare -synonym: "MC1DN28" RELATED ABBREVIATION [OMIM:618249] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28" RELATED [OMIM:618249] +synonym: "MC1DN28" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28" RELATED [] xref: DOID:0112095 {source="MONDO:equivalentTo"} xref: GARD:18376 {source="MONDO:GARD"} xref: MEDGEN:1648493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506443,8 +506537,8 @@ id: MONDO:0032633 name: mitochondrial complex 1 deficiency, nuclear type 29 subset: gard_rare {source="GARD:16330", source="MONDO:GARD"} subset: rare -synonym: "MC1DN29" RELATED ABBREVIATION [OMIM:618250] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29" RELATED [OMIM:618250] +synonym: "MC1DN29" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29" RELATED [] xref: DOID:0112084 {source="MONDO:equivalentTo"} xref: GARD:16330 {source="MONDO:GARD"} xref: MEDGEN:1648451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506462,8 +506556,8 @@ id: MONDO:0032634 name: mitochondrial complex 1 deficiency, nuclear type 31 subset: gard_rare {source="GARD:16331", source="MONDO:GARD"} subset: rare -synonym: "MC1DN31" RELATED ABBREVIATION [OMIM:618251] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31" RELATED [OMIM:618251] +synonym: "MC1DN31" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31" RELATED [] xref: DOID:0112071 {source="MONDO:equivalentTo"} xref: GARD:16331 {source="MONDO:GARD"} xref: MEDGEN:1648395 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506481,8 +506575,8 @@ id: MONDO:0032635 name: mitochondrial complex 1 deficiency, nuclear type 32 subset: gard_rare {source="GARD:18067", source="MONDO:GARD"} subset: rare -synonym: "MC1DN32" RELATED ABBREVIATION [OMIM:618252] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32" RELATED [OMIM:618252] +synonym: "MC1DN32" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32" RELATED [] xref: DOID:0112080 {source="MONDO:equivalentTo"} xref: GARD:18067 {source="MONDO:GARD"} xref: MEDGEN:1648336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506500,8 +506594,8 @@ id: MONDO:0032636 name: mitochondrial complex 1 deficiency, nuclear type 33 subset: gard_rare {source="GARD:16332", source="MONDO:GARD"} subset: rare -synonym: "MC1DN33" RELATED ABBREVIATION [OMIM:618253] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33" RELATED [OMIM:618253] +synonym: "MC1DN33" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33" RELATED [] xref: DOID:0112097 {source="MONDO:equivalentTo"} xref: GARD:16332 {source="MONDO:GARD"} xref: MEDGEN:1648420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506521,9 +506615,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CILD39" RELATED ABBREVIATION [OMIM:618254] -synonym: "CILIARY DYSKINESIA, PRIMARY, 39" RELATED [OMIM:618254] -synonym: "Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus" RELATED [OMIM:618254] +synonym: "CILD39" RELATED ABBREVIATION [] +synonym: "CILIARY DYSKINESIA, PRIMARY, 39" RELATED [] +synonym: "Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus" RELATED [] xref: DOID:0111854 {source="MONDO:equivalentTo"} xref: MEDGEN:1648363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618254 {source="MONDO:equivalentTo"} @@ -506538,8 +506632,8 @@ name: hearing loss, autosomal recessive 112 subset: gard_rare {source="GARD:18377", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 112" NARROW [OMIM:618257, OMIM:genemap2] -synonym: "DFNB112" NARROW ABBREVIATION [OMIM:618257] +synonym: "deafness, autosomal recessive 112" NARROW [] +synonym: "DFNB112" NARROW ABBREVIATION [] xref: DOID:0111637 {source="MONDO:equivalentTo"} xref: GARD:18377 {source="MONDO:GARD"} xref: MEDGEN:1648378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506559,8 +506653,8 @@ subset: gard_rare {source="GARD:16333", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MIRROR MOVEMENTS 4" RELATED [OMIM:618264] -synonym: "MRMV4" RELATED ABBREVIATION [OMIM:618264] +synonym: "MIRROR MOVEMENTS 4" RELATED [] +synonym: "MRMV4" RELATED ABBREVIATION [] xref: GARD:16333 {source="MONDO:GARD"} xref: MEDGEN:1648342 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618264 {source="MONDO:equivalentTo"} @@ -506578,8 +506672,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:565858"} subset: orphanet_rare {source="Orphanet:565858"} subset: rare -synonym: "ACCIID" RELATED ABBREVIATION [OMIM:618265] -synonym: "ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [OMIM:618265] +synonym: "ACCIID" RELATED ABBREVIATION [] +synonym: "ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [] xref: GARD:18001 {source="MONDO:GARD"} xref: MEDGEN:1648372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618265 {source="MONDO:equivalentTo"} @@ -506596,8 +506690,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:611256"} subset: orphanet_rare {source="Orphanet:611256"} subset: rare -synonym: "COASY-related pontocerebellar hypoplasia" EXACT [Orphanet:611256] -synonym: "PCH12" EXACT ABBREVIATION [OMIM:618266, Orphanet:611256] +synonym: "COASY-related pontocerebellar hypoplasia" EXACT [DOID:0112327, Orphanet:611256] +synonym: "PCH12" EXACT ABBREVIATION [DOID:0112327, OMIM:618266, Orphanet:611256] synonym: "PONTOCEREBELLAR HYPOPLASIA, TYPE 12" EXACT [OMIM:618266] xref: DOID:0112327 {source="MONDO:equivalentTo"} xref: GARD:18030 {source="MONDO:GARD"} @@ -506612,9 +506706,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032644 name: epidermodysplasia verruciformis, susceptibility to, 3 -synonym: "epidermodysplasia verruciformis 3" EXACT [OMIM:618267, OMIM:genemap2] -synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3" RELATED [OMIM:618267] -synonym: "EV3" RELATED ABBREVIATION [OMIM:618267] +synonym: "epidermodysplasia verruciformis 3" EXACT [] +synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3" RELATED [] +synonym: "EV3" RELATED ABBREVIATION [] xref: MEDGEN:1648390 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618267 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:618267"} @@ -506628,8 +506722,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032645 name: trichohepatoneurodevelopmental syndrome -synonym: "THNS" RELATED ABBREVIATION [OMIM:618268] -synonym: "TRICHOHEPATONEURODEVELOPMENTAL SYNDROME" RELATED [OMIM:618268] +synonym: "THNS" RELATED ABBREVIATION [] +synonym: "TRICHOHEPATONEURODEVELOPMENTAL SYNDROME" RELATED [] xref: MEDGEN:1648322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618268 {source="MONDO:equivalentTo"} xref: UMLS:C4748898 {source="MEDGEN:1648322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506642,8 +506736,8 @@ name: congenital anomalies of kidney and urinary tract 3 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CAKUT3" RELATED ABBREVIATION [OMIM:618270] -synonym: "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3" RELATED [OMIM:618270] +synonym: "CAKUT3" RELATED ABBREVIATION [] +synonym: "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3" RELATED [] xref: MEDGEN:1648427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618270 {source="MONDO:equivalentTo"} xref: UMLS:C4748921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648427"} @@ -506661,8 +506755,8 @@ replaced_by: MONDO:0018445 [Term] id: MONDO:0032648 name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations -synonym: "MCCCHCM" RELATED ABBREVIATION [OMIM:618273] -synonym: "MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS" RELATED [OMIM:618273] +synonym: "MCCCHCM" RELATED ABBREVIATION [] +synonym: "MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS" RELATED [] xref: DOID:0111403 {source="MONDO:equivalentTo"} xref: MEDGEN:1648439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618273 {source="MONDO:equivalentTo"} @@ -506675,8 +506769,8 @@ id: MONDO:0032649 name: hypotrichosis 14 subset: gard_rare {source="GARD:16335", source="MONDO:GARD"} subset: rare -synonym: "HYPOTRICHOSIS 14" RELATED [OMIM:618275] -synonym: "HYPT14" RELATED ABBREVIATION [OMIM:618275] +synonym: "HYPOTRICHOSIS 14" RELATED [] +synonym: "HYPT14" RELATED ABBREVIATION [] xref: DOID:0080582 {source="MONDO:equivalentTo"} xref: GARD:16335 {source="MONDO:GARD"} xref: MEDGEN:1648477 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506690,8 +506784,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032650 name: neurodegeneration, childhood-onset, with cerebellar atrophy -synonym: "CONDCA" RELATED ABBREVIATION [OMIM:618276] -synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY" RELATED [OMIM:618276] +synonym: "CONDCA" RELATED ABBREVIATION [] +synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY" RELATED [] xref: MEDGEN:1648286 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618276 {source="MONDO:equivalentTo"} xref: UMLS:C4748934 {source="MEDGEN:1648286", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506701,9 +506795,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032651 name: fibrosis, neurodegeneration, and cerebral angiomatosis -synonym: "FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS" RELATED [OMIM:618278] -synonym: "FINCA" RELATED ABBREVIATION [OMIM:618278] -synonym: "FINCA syndrome" EXACT [OMIM:618278, OMIM:genemap2] +synonym: "FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS" RELATED [] +synonym: "FINCA" RELATED ABBREVIATION [] +synonym: "FINCA syndrome" EXACT [] xref: MEDGEN:1648312 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618278 {source="MONDO:equivalentTo"} xref: UMLS:C4748939 {source="MEDGEN:1648312", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506718,7 +506812,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:647811"} subset: orphanet_rare {source="Orphanet:647811"} subset: rare -synonym: "CARDIAC-UROGENITAL SYNDROME" EXACT [OMIM:618280] +synonym: "CARDIAC-UROGENITAL SYNDROME" EXACT [OMIM:618280, Orphanet:647811] synonym: "CUGS" EXACT ABBREVIATION [OMIM:618280] xref: MEDGEN:1648333 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618280 {source="MONDO:equivalentTo"} @@ -506733,8 +506827,8 @@ name: hyper-IgE recurrent infection syndrome 3, autosomal recessive subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HIES3" RELATED ABBREVIATION [OMIM:618282] -synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE" RELATED [OMIM:618282] +synonym: "HIES3" RELATED ABBREVIATION [] +synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE" RELATED [] xref: DOID:0080595 {source="MONDO:equivalentTo"} xref: MEDGEN:1648483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618282 {source="MONDO:equivalentTo"} @@ -506746,8 +506840,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032655 name: visual impairment and progressive phthisis bulbi -synonym: "VIPB" RELATED ABBREVIATION [OMIM:618283] -synonym: "VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI" RELATED [OMIM:618283] +synonym: "VIPB" RELATED ABBREVIATION [] +synonym: "VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI" RELATED [] xref: DOID:0070356 {source="MONDO:equivalentTo"} xref: MEDGEN:1648430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618283 {source="MONDO:equivalentTo"} @@ -506757,8 +506851,8 @@ is_a: MONDO:0003847 {source="OMIM:618283"} ! hereditary disease [Term] id: MONDO:0032656 name: microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum -synonym: "MCIDDS" RELATED ABBREVIATION [OMIM:618284] -synonym: "MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM" RELATED [OMIM:618284] +synonym: "MCIDDS" RELATED ABBREVIATION [] +synonym: "MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM" RELATED [] xref: MEDGEN:1648355 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618284 {source="MONDO:equivalentTo"} xref: UMLS:C4748984 {source="MEDGEN:1648355", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506771,9 +506865,9 @@ name: developmental and epileptic encephalopathy, 69 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE69" EXACT ABBREVIATION [OMIM:618285] -synonym: "developmental and epileptic encephalopathy 69" EXACT [OMIM:618285, OMIM:genemap2] -synonym: "EIEE69" EXACT ABBREVIATION [OMIM:618285] +synonym: "DEE69" EXACT ABBREVIATION [DOID:0112205, OMIM:618285] +synonym: "developmental and epileptic encephalopathy 69" EXACT [DOID:0112205, OMIM:618285] +synonym: "EIEE69" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69" EXACT [OMIM:618285] synonym: "epileptic encephalopathy, early infantile, 69" EXACT [OMIM:618285] xref: DOID:0112205 {source="MONDO:equivalentTo"} @@ -506788,9 +506882,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032658 name: macrocephaly, acquired, with impaired intellectual development -synonym: "MACID" RELATED ABBREVIATION [OMIM:618286] -synonym: "MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [OMIM:618286] -synonym: "Macrocephaly, Acquired, With Mental Retardation" RELATED [OMIM:618286] +synonym: "MACID" RELATED ABBREVIATION [] +synonym: "MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [] +synonym: "Macrocephaly, Acquired, With Mental Retardation" RELATED [] xref: MEDGEN:1648471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618286 {source="MONDO:equivalentTo"} xref: UMLS:C4748993 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648471"} @@ -506800,8 +506894,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032659 name: mucocutaneous ulceration, chronic -synonym: "CMCU" RELATED ABBREVIATION [OMIM:618287] -synonym: "MUCOCUTANEOUS ULCERATION, CHRONIC" RELATED [OMIM:618287] +synonym: "CMCU" RELATED ABBREVIATION [] +synonym: "MUCOCUTANEOUS ULCERATION, CHRONIC" RELATED [] xref: MEDGEN:1648375 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618287 {source="MONDO:equivalentTo"} xref: UMLS:C4748997 {source="MEDGEN:1648375", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506814,9 +506908,9 @@ name: spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SMALED2B" RELATED ABBREVIATION [OMIM:618291] -synonym: "spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant" EXACT [OMIM:618291, OMIM:genemap2] -synonym: "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT" RELATED [OMIM:618291] +synonym: "SMALED2B" RELATED ABBREVIATION [] +synonym: "spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant" EXACT [] +synonym: "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT" RELATED [] xref: DOID:0070350 {source="MONDO:equivalentTo"} xref: MEDGEN:1648362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618291 {source="MONDO:equivalentTo"} @@ -506831,8 +506925,8 @@ id: MONDO:0032661 name: neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia subset: gard_rare {source="GARD:18515", source="MONDO:GARD"} subset: rare -synonym: "NEDIDHA" RELATED ABBREVIATION [OMIM:618292] -synonym: "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA" RELATED [OMIM:618292] +synonym: "NEDIDHA" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA" RELATED [] xref: GARD:18515 {source="MONDO:GARD"} xref: MEDGEN:1648291 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618292 {source="MONDO:equivalentTo"} @@ -506849,9 +506943,9 @@ name: intellectual developmental disorder, autosomal recessive 67 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67" RELATED [OMIM:618295] -synonym: "Mental Retardation, Autosomal Recessive 67" RELATED [OMIM:618295] -synonym: "MRT67" RELATED ABBREVIATION [OMIM:618295] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67" RELATED [] +synonym: "Mental Retardation, Autosomal Recessive 67" RELATED [] +synonym: "MRT67" RELATED ABBREVIATION [] xref: DOID:0081228 {source="MONDO:equivalentTo"} xref: MEDGEN:1648350 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618295 {source="MONDO:equivalentTo"} @@ -506866,9 +506960,9 @@ name: developmental and epileptic encephalopathy, 70 subset: gard_rare {source="GARD:16336", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE70" EXACT ABBREVIATION [OMIM:618298] -synonym: "developmental and epileptic encephalopathy 70" EXACT [OMIM:618298, OMIM:genemap2] -synonym: "EIEE70" EXACT ABBREVIATION [OMIM:618298] +synonym: "DEE70" EXACT ABBREVIATION [DOID:0112206, OMIM:618298] +synonym: "developmental and epileptic encephalopathy 70" EXACT [DOID:0112206, OMIM:618298] +synonym: "EIEE70" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70" EXACT [OMIM:618298] synonym: "epileptic encephalopathy, early infantile, 70" EXACT [OMIM:618298] xref: DOID:0112206 {source="MONDO:equivalentTo"} @@ -506889,9 +506983,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CILD40" RELATED ABBREVIATION [OMIM:618300] -synonym: "CILIARY DYSKINESIA, PRIMARY, 40" RELATED [OMIM:618300] -synonym: "Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus" RELATED [OMIM:618300] +synonym: "CILD40" RELATED ABBREVIATION [] +synonym: "CILIARY DYSKINESIA, PRIMARY, 40" RELATED [] +synonym: "Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus" RELATED [] xref: DOID:0111853 {source="MONDO:equivalentTo"} xref: MEDGEN:1648365 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618300 {source="MONDO:equivalentTo"} @@ -506906,9 +507000,9 @@ name: intellectual developmental disorder, autosomal recessive 68 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68" RELATED [OMIM:618302] -synonym: "Mental Retardation, Autosomal Recessive 68" RELATED [OMIM:618302] -synonym: "MRT68" RELATED ABBREVIATION [OMIM:618302] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68" RELATED [] +synonym: "Mental Retardation, Autosomal Recessive 68" RELATED [] +synonym: "MRT68" RELATED ABBREVIATION [] xref: DOID:0081229 {source="MONDO:equivalentTo"} xref: MEDGEN:1648490 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618302 {source="MONDO:equivalentTo"} @@ -506921,8 +507015,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032666 name: epidermodysplasia verruciformis, susceptibility to, 4 subset: clingen {source="MONDO:CLINGEN"} -synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4" RELATED [OMIM:618307] -synonym: "EV4" RELATED ABBREVIATION [OMIM:618307] +synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4" RELATED [] +synonym: "EV4" RELATED ABBREVIATION [] xref: MEDGEN:1648396 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C176608 {source="MONDO:equivalentTo"} xref: OMIM:618307 {source="MONDO:equivalentTo"} @@ -506936,8 +507030,8 @@ relationship: predisposes_towards MONDO:0009176 {source="OMIM:618307"} ! epiderm [Term] id: MONDO:0032667 name: epidermodysplasia verruciformis, susceptibility to, 5 -synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5" RELATED [OMIM:618309] -synonym: "EV5" RELATED ABBREVIATION [OMIM:618309] +synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5" RELATED [] +synonym: "EV5" RELATED ABBREVIATION [] xref: MEDGEN:1648489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618309 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:618309"} @@ -506952,8 +507046,8 @@ name: Diamond-Blackfan anemia 18 subset: gard_rare {source="GARD:16338", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA18" RELATED ABBREVIATION [OMIM:618310] -synonym: "DIAMOND-BLACKFAN ANEMIA 18" RELATED [OMIM:618310] +synonym: "DBA18" RELATED ABBREVIATION [] +synonym: "DIAMOND-BLACKFAN ANEMIA 18" RELATED [] xref: DOID:0111896 {source="MONDO:equivalentTo"} xref: GARD:16338 {source="MONDO:GARD"} xref: MEDGEN:1681154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506969,8 +507063,8 @@ name: Diamond-Blackfan anemia 19 subset: gard_rare {source="GARD:16339", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA19" RELATED ABBREVIATION [OMIM:618312] -synonym: "DIAMOND-BLACKFAN ANEMIA 19" RELATED [OMIM:618312] +synonym: "DBA19" RELATED ABBREVIATION [] +synonym: "DIAMOND-BLACKFAN ANEMIA 19" RELATED [] xref: DOID:0111886 {source="MONDO:equivalentTo"} xref: GARD:16339 {source="MONDO:GARD"} xref: MEDGEN:1683070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -506986,8 +507080,8 @@ name: Diamond-Blackfan anemia 20 subset: gard_rare {source="GARD:16340", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA20" RELATED ABBREVIATION [OMIM:618313] -synonym: "DIAMOND-BLACKFAN ANEMIA 20" RELATED [OMIM:618313] +synonym: "DBA20" RELATED ABBREVIATION [] +synonym: "DIAMOND-BLACKFAN ANEMIA 20" RELATED [] xref: DOID:0111891 {source="MONDO:equivalentTo"} xref: GARD:16340 {source="MONDO:GARD"} xref: MEDGEN:1674961 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507006,7 +507100,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:562569"} subset: orphanet_rare {source="Orphanet:562569"} subset: rare -synonym: "IDDCDF" RELATED ABBREVIATION [OMIM:618316] +synonym: "IDDCDF" RELATED ABBREVIATION [] synonym: "intellectual developmental disorder with cardiac defects and dysmorphic facies" EXACT [OMIM:618316] synonym: "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome" EXACT [Orphanet:562569] xref: GARD:17998 {source="MONDO:GARD"} @@ -507023,8 +507117,8 @@ id: MONDO:0032673 name: basal ganglia calcification, idiopathic, 7, autosomal recessive subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE" RELATED [OMIM:618317] -synonym: "IBGC7" RELATED ABBREVIATION [OMIM:618317] +synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE" RELATED [] +synonym: "IBGC7" RELATED ABBREVIATION [] xref: MEDGEN:1683911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618317 {source="MONDO:equivalentTo"} xref: UMLS:C5193025 {source="MEDGEN:1683911", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507039,9 +507133,9 @@ name: myasthenic syndrome, congenital, 25, presynaptic subset: gard_rare {source="GARD:16341", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS25" RELATED ABBREVIATION [OMIM:618323] -synonym: "myasthenic syndrome, congenital, 25" EXACT [OMIM:618323, OMIM:genemap2] -synonym: "MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC" RELATED [OMIM:618323] +synonym: "CMS25" RELATED ABBREVIATION [] +synonym: "myasthenic syndrome, congenital, 25" EXACT [] +synonym: "MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC" RELATED [] xref: GARD:16341 {source="MONDO:GARD"} xref: MEDGEN:1683288 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618323 {source="MONDO:equivalentTo"} @@ -507063,8 +507157,8 @@ subset: ordo_disorder {source="Orphanet:572013"} subset: orphanet_rare {source="Orphanet:572013"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LIS9" RELATED ABBREVIATION [OMIM:618325] -synonym: "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION" RELATED [OMIM:618325] +synonym: "LIS9" RELATED ABBREVIATION [] +synonym: "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION" RELATED [] xref: DOID:0112228 {source="MONDO:equivalentTo"} xref: GARD:18007 {source="MONDO:GARD"} xref: MEDGEN:1681109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507087,12 +507181,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:557064"} subset: orphanet_rare {source="Orphanet:557064"} subset: rare -synonym: "DEE71" EXACT ABBREVIATION [OMIM:618328] -synonym: "developmental and epileptic encephalopathy 71" EXACT [OMIM:618328, OMIM:genemap2] -synonym: "EIEE71" EXACT ABBREVIATION [OMIM:618328] +synonym: "DEE71" EXACT ABBREVIATION [DOID:0112207, OMIM:618328] +synonym: "developmental and epileptic encephalopathy 71" EXACT [DOID:0112207, OMIM:618328] +synonym: "EIEE71" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 71" EXACT [OMIM:618328] -synonym: "Glutaminase Deficiency With Neonatal Epileptic Encephalopathy" RELATED [OMIM:618328] -synonym: "neonatal epileptic encephalopathy due to glutaminase deficiency" EXACT [MONDO:0034147] +synonym: "Glutaminase Deficiency With Neonatal Epileptic Encephalopathy" RELATED [] +synonym: "neonatal epileptic encephalopathy due to glutaminase deficiency" EXACT [MONDO:0034147, Orphanet:557064] xref: DOID:0112207 {source="MONDO:equivalentTo"} xref: GARD:17994 {source="MONDO:GARD"} xref: MEDGEN:1680812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507114,8 +507208,8 @@ id: MONDO:0032679 name: combined oxidative phosphorylation deficiency 37 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37" RELATED [OMIM:618329] -synonym: "COXPD37" RELATED ABBREVIATION [OMIM:618329] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37" RELATED [] +synonym: "COXPD37" RELATED ABBREVIATION [] xref: DOID:0111499 {source="MONDO:equivalentTo"} xref: MEDGEN:1675208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618329 {source="MONDO:equivalentTo"} @@ -507129,8 +507223,8 @@ id: MONDO:0032680 name: global developmental delay with or without impaired intellectual development subset: gard_rare {source="GARD:16477", source="MONDO:GARD"} subset: rare -synonym: "GDDI" RELATED ABBREVIATION [OMIM:618330] -synonym: "GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [OMIM:618330] +synonym: "GDDI" RELATED ABBREVIATION [] +synonym: "GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [] xref: GARD:16477 {source="MONDO:GARD"} xref: MEDGEN:1675328 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618330 {source="MONDO:equivalentTo"} @@ -507143,8 +507237,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032681 name: encephalopathy, progressive, early-onset, with episodic rhabdomyolysis subset: otar {source="MONDO:OTAR"} -synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS" RELATED [OMIM:618331] -synonym: "PEERB" RELATED ABBREVIATION [OMIM:618331] +synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS" RELATED [] +synonym: "PEERB" RELATED ABBREVIATION [] xref: MEDGEN:1682670 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618331 {source="MONDO:equivalentTo"} xref: UMLS:C5193033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682670"} @@ -507160,10 +507254,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMAGE-I syndrome" EXACT [OMIM:618336, OMIM:genemap2] -synonym: "IMAGEI" RELATED ABBREVIATION [OMIM:618336] -synonym: "Imagei Syndrome" RELATED [OMIM:618336] -synonym: "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY" RELATED [OMIM:618336] +synonym: "IMAGE-I syndrome" EXACT [] +synonym: "IMAGEI" RELATED ABBREVIATION [] +synonym: "Imagei Syndrome" RELATED [] +synonym: "INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY" RELATED [] xref: MEDGEN:1684464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618336 {source="MONDO:equivalentTo"} xref: UMLS:C5193036 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684464"} @@ -507177,9 +507271,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0032685 name: infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development subset: clingen {source="MONDO:CLINGEN"} -synonym: "CASGID" RELATED ABBREVIATION [OMIM:618339] -synonym: "INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [OMIM:618339] -synonym: "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" EXACT CLINGEN_LABEL [] +synonym: "CASGID" RELATED ABBREVIATION [] +synonym: "INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT" RELATED [] +synonym: "infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" EXACT CLINGEN_LABEL [OMIM:618339] xref: MEDGEN:1673640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618339 {source="MONDO:equivalentTo"} xref: UMLS:C5193037 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1673640"} @@ -507189,8 +507283,8 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond [Term] id: MONDO:0032686 name: spermatogenic failure 35 -synonym: "SPERMATOGENIC FAILURE 35" RELATED [OMIM:618341] -synonym: "SPGF35" RELATED ABBREVIATION [OMIM:618341] +synonym: "SPERMATOGENIC FAILURE 35" RELATED [] +synonym: "SPGF35" RELATED ABBREVIATION [] xref: DOID:0111914 {source="MONDO:equivalentTo"} xref: MEDGEN:1679765 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618341 {source="MONDO:equivalentTo"} @@ -507205,8 +507299,8 @@ name: intellectual developmental disorder with abnormal behavior, microcephaly, subset: gard_rare {source="GARD:18516", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IDDABS" RELATED ABBREVIATION [OMIM:618342] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE" RELATED [OMIM:618342] +synonym: "IDDABS" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE" RELATED [] xref: DOID:0081265 {source="MONDO:equivalentTo"} xref: GARD:18516 {source="MONDO:GARD"} xref: MEDGEN:1675423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507223,9 +507317,9 @@ subset: ordo_disorder {source="Orphanet:636941"} subset: orphanet_rare {source="Orphanet:636941"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PMGEDSV" RELATED ABBREVIATION [OMIM:618343] -synonym: "polymicrogyria with or without vascular-type EDS" EXACT [OMIM:618343, OMIM:genemap2] -synonym: "POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME" RELATED [OMIM:618343] +synonym: "PMGEDSV" RELATED ABBREVIATION [] +synonym: "polymicrogyria with or without vascular-type EDS" EXACT [] +synonym: "POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME" RELATED [] synonym: "vascular Ehlers-Danlos-polymicrogyria syndrome" EXACT [Orphanet:636941] xref: MEDGEN:1675672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618343 {source="MONDO:equivalentTo"} @@ -507241,8 +507335,8 @@ name: retinitis pigmentosa 85 subset: gard_rare {source="GARD:16342", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RETINITIS PIGMENTOSA 85" RELATED [OMIM:618345] -synonym: "RP85" RELATED ABBREVIATION [OMIM:618345] +synonym: "RETINITIS PIGMENTOSA 85" RELATED [] +synonym: "RP85" RELATED ABBREVIATION [] xref: DOID:0112142 {source="MONDO:equivalentTo"} xref: GARD:16342 {source="MONDO:GARD"} xref: MEDGEN:1682947 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507255,8 +507349,8 @@ is_a: MONDO:0019200 {source="DOID:0112142", source="OMIM:618345"} ! retinitis pi [Term] id: MONDO:0032690 name: microcephaly, growth deficiency, seizures, and brain malformations -synonym: "MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS" RELATED [OMIM:618346] -synonym: "MIGSB" RELATED ABBREVIATION [OMIM:618346] +synonym: "MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS" RELATED [] +synonym: "MIGSB" RELATED ABBREVIATION [] xref: DOID:0081051 {source="MONDO:equivalentTo"} xref: MEDGEN:1676229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618346 {source="MONDO:equivalentTo"} @@ -507270,8 +507364,8 @@ name: Galloway-Mowat syndrome 6 subset: gard_rare {source="GARD:16343", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "GALLOWAY-MOWAT SYNDROME 6" RELATED [OMIM:618347] -synonym: "GAMOS6" RELATED ABBREVIATION [OMIM:618347] +synonym: "GALLOWAY-MOWAT SYNDROME 6" RELATED [] +synonym: "GAMOS6" RELATED ABBREVIATION [] xref: GARD:16343 {source="MONDO:GARD"} xref: MEDGEN:1674560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618347 {source="MONDO:equivalentTo"} @@ -507287,8 +507381,8 @@ name: Galloway-Mowat syndrome 7 subset: gard_rare {source="GARD:16344", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "GALLOWAY-MOWAT SYNDROME 7" RELATED [OMIM:618348] -synonym: "GAMOS7" RELATED ABBREVIATION [OMIM:618348] +synonym: "GALLOWAY-MOWAT SYNDROME 7" RELATED [] +synonym: "GAMOS7" RELATED ABBREVIATION [] xref: GARD:16344 {source="MONDO:GARD"} xref: MEDGEN:1679283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618348 {source="MONDO:equivalentTo"} @@ -507304,8 +507398,8 @@ name: Galloway-Mowat syndrome 8 subset: gard_rare {source="GARD:16345", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "GALLOWAY-MOWAT SYNDROME 8" RELATED [OMIM:618349] -synonym: "GAMOS8" RELATED ABBREVIATION [OMIM:618349] +synonym: "GALLOWAY-MOWAT SYNDROME 8" RELATED [] +synonym: "GAMOS8" RELATED ABBREVIATION [] xref: GARD:16345 {source="MONDO:GARD"} xref: MEDGEN:1675829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618349 {source="MONDO:equivalentTo"} @@ -507320,8 +507414,8 @@ name: microcephaly 25, primary, autosomal recessive subset: gard_rare {source="GARD:16346", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH25" RELATED ABBREVIATION [OMIM:618351] -synonym: "MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE" RELATED [OMIM:618351] +synonym: "MCPH25" RELATED ABBREVIATION [] +synonym: "MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE" RELATED [] xref: GARD:16346 {source="MONDO:GARD"} xref: MEDGEN:1674123 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618351 {source="MONDO:equivalentTo"} @@ -507332,8 +507426,8 @@ is_a: MONDO:0016660 {source="OMIM:618351"} ! autosomal recessive primary microce [Term] id: MONDO:0032696 name: oocyte maturation defect 6 -synonym: "OOCYTE MATURATION DEFECT 6" RELATED [OMIM:618353] -synonym: "OOMD6" RELATED ABBREVIATION [OMIM:618353] +synonym: "OOCYTE MATURATION DEFECT 6" RELATED [] +synonym: "OOMD6" RELATED ABBREVIATION [] xref: MEDGEN:1682649 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618353 {source="MONDO:equivalentTo"} xref: Orphanet:404466 {source="OMIM:618353"} @@ -507346,7 +507440,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032697 name: Houge-Janssens syndrome 3 subset: otar {source="MONDO:OTAR"} -synonym: "NEDLBA" EXACT ABBREVIATION [OMIM:618354] +synonym: "NEDLBA" EXACT ABBREVIATION [] synonym: "neurodevelopmental disorder and language delay with or without structural brain abnormalities" EXACT [OMIM:618354] xref: MEDGEN:1677130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618354 {source="MONDO:equivalentTo"} @@ -507362,8 +507456,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0032698 name: neurodevelopmental disorder with central and peripheral motor dysfunction subset: otar {source="MONDO:OTAR"} -synonym: "NEDCPMD" RELATED ABBREVIATION [OMIM:618356] -synonym: "NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION" RELATED [OMIM:618356] +synonym: "NEDCPMD" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION" RELATED [] xref: MEDGEN:1674767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618356 {source="MONDO:equivalentTo"} xref: UMLS:C5193049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1674767"} @@ -507375,8 +507469,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032699 name: epilepsy, idiopathic generalized, susceptibility to, 15 -synonym: "EIG15" RELATED ABBREVIATION [OMIM:618357] -synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15" RELATED [OMIM:618357] +synonym: "EIG15" RELATED ABBREVIATION [] +synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15" RELATED [] xref: DOID:0111316 {source="MONDO:equivalentTo"} xref: MEDGEN:1675524 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618357 {source="MONDO:equivalentTo"} @@ -507395,8 +507489,8 @@ comment: Editor note: Fix placement after https://github.com/monarch-initiative/ subset: gard_rare {source="GARD:16347", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "COFFIN-SIRIS SYNDROME 8" RELATED [OMIM:618362] -synonym: "CSS8" RELATED ABBREVIATION [OMIM:618362] +synonym: "COFFIN-SIRIS SYNDROME 8" RELATED [] +synonym: "CSS8" RELATED ABBREVIATION [] synonym: "SMARCC2-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] xref: DOID:0112367 {source="MONDO:equivalentTo"} xref: GARD:16347 {source="MONDO:GARD"} @@ -507417,8 +507511,8 @@ name: short stature, amelogenesis imperfecta, and skeletal dysplasia with scolio subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS" RELATED [OMIM:618363] -synonym: "SSASKS" RELATED ABBREVIATION [OMIM:618363] +synonym: "SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS" RELATED [] +synonym: "SSASKS" RELATED ABBREVIATION [] xref: MEDGEN:1676818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618363 {source="MONDO:equivalentTo"} xref: UMLS:C5193055 {source="MEDGEN:1676818", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507437,7 +507531,7 @@ subset: ordo_disorder {source="Orphanet:597874"} subset: orphanet_rare {source="Orphanet:597874"} subset: rare synonym: "5,10-methenyltetrahydrofolate synthetase deficiency" EXACT [PMID:30031689] -synonym: "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome" EXACT [MONDO:0035369] +synonym: "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome" EXACT [MONDO:0035369, Orphanet:597874] synonym: "NEDMEHM" EXACT ABBREVIATION [OMIM:618367] synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION" EXACT [OMIM:618367] xref: GARD:18018 {source="MONDO:GARD"} @@ -507459,8 +507553,8 @@ name: spinocerebellar ataxia, autosomal recessive 27 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SCAR27" RELATED ABBREVIATION [OMIM:618369] -synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27" RELATED [OMIM:618369] +synonym: "SCAR27" RELATED ABBREVIATION [] +synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27" RELATED [] xref: DOID:0111616 {source="MONDO:equivalentTo"} xref: MEDGEN:1672866 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618369 {source="MONDO:equivalentTo"} @@ -507473,9 +507567,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032707 name: turnpenny-fry syndrome subset: clingen {source="MONDO:CLINGEN"} -synonym: "Neurocardioskeletal Syndrome" RELATED [OMIM:618371] -synonym: "TPFS" RELATED ABBREVIATION [OMIM:618371] -synonym: "TURNPENNY-FRY SYNDROME" RELATED [OMIM:618371] +synonym: "Neurocardioskeletal Syndrome" RELATED [] +synonym: "TPFS" RELATED ABBREVIATION [] +synonym: "TURNPENNY-FRY SYNDROME" RELATED [] xref: MEDGEN:1683283 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618371 {source="MONDO:equivalentTo"} xref: UMLS:C5193060 {source="MONDO:equivalentTo", source="MEDGEN:1683283", source="MONDO:MEDGEN"} @@ -507489,9 +507583,9 @@ name: developmental and epileptic encephalopathy, 72 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE72" EXACT ABBREVIATION [OMIM:618374] -synonym: "developmental and epileptic encephalopathy 72" EXACT [OMIM:618374, OMIM:genemap2] -synonym: "EIEE72" EXACT ABBREVIATION [OMIM:618374] +synonym: "DEE72" EXACT ABBREVIATION [DOID:0112208, OMIM:618374] +synonym: "developmental and epileptic encephalopathy 72" EXACT [DOID:0112208, OMIM:618374] +synonym: "EIEE72" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72" EXACT [OMIM:618374] synonym: "epileptic encephalopathy, early infantile, 72" EXACT [OMIM:618374] xref: DOID:0112208 {source="MONDO:equivalentTo"} @@ -507508,8 +507602,8 @@ id: MONDO:0032712 name: combined oxidative phosphorylation deficiency 38 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38" RELATED [OMIM:618378] -synonym: "COXPD38" RELATED ABBREVIATION [OMIM:618378] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38" RELATED [] +synonym: "COXPD38" RELATED ABBREVIATION [] xref: DOID:0111466 {source="MONDO:equivalentTo"} xref: MEDGEN:1682102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618378 {source="MONDO:equivalentTo"} @@ -507525,8 +507619,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:598603"} subset: orphanet_rare {source="Orphanet:598603"} subset: rare -synonym: "FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME" RELATED [OMIM:618381] -synonym: "FHEIG" RELATED ABBREVIATION [OMIM:618381] +synonym: "FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME" RELATED [] +synonym: "FHEIG" RELATED ABBREVIATION [] xref: GARD:18019 {source="MONDO:GARD"} xref: MEDGEN:1679105 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618381 {source="MONDO:equivalentTo"} @@ -507541,9 +507635,9 @@ name: intellectual developmental disorder, autosomal recessive 69 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69" RELATED [OMIM:618383] -synonym: "Mental Retardation, Autosomal Recessive 69" RELATED [OMIM:618383] -synonym: "MRT69" RELATED ABBREVIATION [OMIM:618383] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69" RELATED [] +synonym: "Mental Retardation, Autosomal Recessive 69" RELATED [] +synonym: "MRT69" RELATED ABBREVIATION [] xref: DOID:0081230 {source="MONDO:equivalentTo"} xref: MEDGEN:1676539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618383 {source="MONDO:equivalentTo"} @@ -507563,8 +507657,8 @@ subset: rare synonym: "acute reversible leukoencephalopathy due to SLC13A3 deficiency" EXACT [Orphanet:615964] synonym: "acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency" EXACT [Orphanet:615964] synonym: "acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate" EXACT [Orphanet:615964] -synonym: "ARLIAK" RELATED ABBREVIATION [OMIM:618384] -synonym: "LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE" RELATED [OMIM:618384] +synonym: "ARLIAK" RELATED ABBREVIATION [] +synonym: "LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE" RELATED [] xref: GARD:18035 {source="MONDO:GARD"} xref: MEDGEN:1677730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618384 {source="MONDO:equivalentTo"} @@ -507579,9 +507673,9 @@ id: MONDO:0032717 name: amelogenesis imperfecta, type 3C subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AI3C" RELATED ABBREVIATION [OMIM:618386] -synonym: "Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive" RELATED [OMIM:618386] -synonym: "AMELOGENESIS IMPERFECTA, TYPE IIIC" RELATED [OMIM:618386] +synonym: "AI3C" RELATED ABBREVIATION [] +synonym: "Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive" RELATED [] +synonym: "AMELOGENESIS IMPERFECTA, TYPE IIIC" RELATED [] xref: DOID:0111722 {source="MONDO:equivalentTo"} xref: MEDGEN:1676410 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618386 {source="MONDO:equivalentTo"} @@ -507597,9 +507691,9 @@ name: spondyloepiphyseal dysplasia, kondo-fu type subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:2027"} subset: rare -synonym: "Sed With Elevated Blood Lysosomal Enzymes" RELATED [OMIM:618392] -synonym: "SEDKF" RELATED ABBREVIATION [OMIM:618392] -synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE" RELATED [OMIM:618392] +synonym: "Sed With Elevated Blood Lysosomal Enzymes" RELATED [] +synonym: "SEDKF" RELATED ABBREVIATION [] +synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE" RELATED [] xref: DOID:0112283 {source="MONDO:equivalentTo"} xref: MEDGEN:1683128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NORD:2027 {source="MONDO:NORD"} @@ -507612,10 +507706,10 @@ is_a: MONDO:0016761 {source="DOID:0112283", source="https://orcid.org/0000-0002- id: MONDO:0032723 name: immunodeficiency 60 subset: clingen {source="MONDO:CLINGEN"} -synonym: "IMD60" RELATED ABBREVIATION [OMIM:618394] -synonym: "IMMUNODEFICIENCY 60" RELATED [OMIM:618394] -synonym: "immunodeficiency 60 and autoimmunity" EXACT [OMIM:618394, OMIM:genemap2] -synonym: "Immunodeficiency and Autoimmunity, Bach2-Related" RELATED [OMIM:618394] +synonym: "IMD60" RELATED ABBREVIATION [] +synonym: "IMMUNODEFICIENCY 60" RELATED [] +synonym: "immunodeficiency 60 and autoimmunity" EXACT [OMIM:618394] +synonym: "Immunodeficiency and Autoimmunity, Bach2-Related" RELATED [] xref: DOID:0111954 {source="MONDO:equivalentTo"} xref: MEDGEN:1681890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618394 {source="MONDO:equivalentTo"} @@ -507634,9 +507728,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:642085"} subset: orphanet_rare {source="Orphanet:642085"} subset: rare -synonym: "SEMDJL3" EXACT ABBREVIATION [DOID:0112200] -synonym: "spondyloepimetaphyseal dysplasia with joint laxity, EXOC6b type" EXACT [Orphanet:642085] -synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3" RELATED [OMIM:618395] +synonym: "SEMDJL3" EXACT ABBREVIATION [DOID:0112200, OMIM:618395, Orphanet:642085] +synonym: "spondyloepimetaphyseal dysplasia with joint laxity, EXOC6b type" EXACT [] +synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3" RELATED [] xref: DOID:0112200 {source="MONDO:equivalentTo"} xref: GARD:16348 {source="MONDO:GARD"} xref: MEDGEN:1677378 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507656,9 +507750,9 @@ name: developmental and epileptic encephalopathy, 74 subset: gard_rare {source="GARD:16349", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE74" EXACT ABBREVIATION [OMIM:618396] -synonym: "developmental and epileptic encephalopathy 74" EXACT [OMIM:618396, OMIM:genemap2] -synonym: "EIEE74" EXACT ABBREVIATION [OMIM:618396] +synonym: "DEE74" EXACT ABBREVIATION [DOID:0112210, OMIM:618396] +synonym: "developmental and epileptic encephalopathy 74" EXACT [DOID:0112210, OMIM:618396] +synonym: "EIEE74" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74" EXACT [OMIM:618396] synonym: "epileptic encephalopathy, early infantile, 74" EXACT [OMIM:618396] xref: DOID:0112210 {source="MONDO:equivalentTo"} @@ -507680,8 +507774,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:565624"} subset: orphanet_rare {source="Orphanet:565624"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39" RELATED [OMIM:618397] -synonym: "COXPD39" RELATED ABBREVIATION [OMIM:618397] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39" RELATED [] +synonym: "COXPD39" RELATED ABBREVIATION [] xref: DOID:0111475 {source="MONDO:equivalentTo"} xref: GARD:17999 {source="MONDO:GARD"} xref: MEDGEN:1683958 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507699,9 +507793,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE" RELATED [OMIM:618400] -synonym: "Charcot-Marie-Tooth Neuropathy, Type 2Ee" RELATED [OMIM:618400] -synonym: "CMT2EE" RELATED ABBREVIATION [OMIM:618400] +synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE" RELATED [] +synonym: "Charcot-Marie-Tooth Neuropathy, Type 2Ee" RELATED [] +synonym: "CMT2EE" RELATED ABBREVIATION [] xref: DOID:0111559 {source="MONDO:equivalentTo"} xref: MEDGEN:1677426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618400 {source="MONDO:equivalentTo"} @@ -507716,9 +507810,9 @@ name: intellectual developmental disorder, autosomal recessive 70 subset: gard_rare {source="GARD:22580", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70" RELATED [OMIM:618402] -synonym: "Mental Retardation, Autosomal Recessive 70" RELATED [OMIM:618402] -synonym: "MRT70" RELATED ABBREVIATION [OMIM:618402] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70" RELATED [] +synonym: "Mental Retardation, Autosomal Recessive 70" RELATED [] +synonym: "MRT70" RELATED ABBREVIATION [] xref: DOID:0081231 {source="MONDO:equivalentTo"} xref: GARD:22580 {source="MONDO:GARD"} xref: MEDGEN:1679317 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507735,8 +507829,8 @@ name: leukodystrophy, hypomyelinating, 18 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HLD18" RELATED ABBREVIATION [OMIM:618404] -synonym: "LEUKODYSTROPHY, HYPOMYELINATING, 18" RELATED [OMIM:618404] +synonym: "HLD18" RELATED ABBREVIATION [] +synonym: "LEUKODYSTROPHY, HYPOMYELINATING, 18" RELATED [] xref: DOID:0070399 {source="MONDO:equivalentTo"} xref: MEDGEN:1680067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618404 {source="MONDO:equivalentTo"} @@ -507751,8 +507845,8 @@ name: hearing loss, autosomal recessive 113 subset: gard_rare {source="GARD:18152", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 113" NARROW [OMIM:618410, OMIM:genemap2] -synonym: "DFNB113" NARROW ABBREVIATION [OMIM:618410] +synonym: "deafness, autosomal recessive 113" NARROW [] +synonym: "DFNB113" NARROW ABBREVIATION [] xref: DOID:0111636 {source="MONDO:equivalentTo"} xref: GARD:18152 {source="MONDO:GARD"} xref: MEDGEN:1674289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507769,9 +507863,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032733 name: global developmental delay, progressive ataxia, and elevated glutamine -synonym: "GDPAG" RELATED ABBREVIATION [OMIM:618412] -synonym: "GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE" RELATED [OMIM:618412] -synonym: "Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia" RELATED [OMIM:618412] +synonym: "GDPAG" RELATED ABBREVIATION [] +synonym: "GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE" RELATED [] +synonym: "Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia" RELATED [] xref: MEDGEN:1680160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618412 {source="MONDO:equivalentTo"} xref: UMLS:C5193080 {source="MEDGEN:1680160", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507783,8 +507877,8 @@ id: MONDO:0032735 name: cataract 48 subset: gard_rare {source="GARD:16350", source="MONDO:GARD"} subset: rare -synonym: "CATARACT 48" RELATED [OMIM:618415] -synonym: "CTRCT48" RELATED ABBREVIATION [OMIM:618415] +synonym: "CATARACT 48" RELATED [] +synonym: "CTRCT48" RELATED ABBREVIATION [] xref: DOID:0070354 {source="MONDO:equivalentTo"} xref: GARD:16350 {source="MONDO:GARD"} xref: MEDGEN:1684457 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507798,8 +507892,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032736 name: metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression -synonym: "MECREN" RELATED ABBREVIATION [OMIM:618416] -synonym: "METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION" RELATED [OMIM:618416] +synonym: "MECREN" RELATED ABBREVIATION [] +synonym: "METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION" RELATED [] xref: MEDGEN:1681269 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618416 {source="MONDO:equivalentTo"} xref: UMLS:C5193083 {source="MEDGEN:1681269", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507814,9 +507908,9 @@ subset: ordo_disorder {source="Orphanet:631068"} subset: orphanet_rare {source="Orphanet:631068"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal dominant spastic paraplegia type 80" EXACT [MONDO:0858986] +synonym: "autosomal dominant spastic paraplegia type 80" EXACT [MONDO:0858986, Orphanet:631068] synonym: "SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT" EXACT [OMIM:618418] -synonym: "SPG80" EXACT ABBREVIATION [OMIM:618418] +synonym: "SPG80" EXACT ABBREVIATION [DOID:0112341, OMIM:618418] xref: DOID:0112341 {source="MONDO:equivalentTo"} xref: MEDGEN:1682111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618418 {source="MONDO:equivalentTo"} @@ -507830,12 +507924,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032738 name: gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy -synonym: "agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations" EXACT [OMIM:600908] -synonym: "agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations" EXACT DEPRECATED [OMIM:600908] -synonym: "GDRM" RELATED ABBREVIATION [OMIM:618419] +synonym: "agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations" EXACT [] +synonym: "agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations" EXACT DEPRECATED [] +synonym: "GDRM" RELATED ABBREVIATION [] synonym: "GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY" EXACT [OMIM:618419] -synonym: "KENNERKNECHT syndrome" EXACT [OMIM:600908] -synonym: "Kennerknecht syndrome" EXACT [OMIM:600908] +synonym: "KENNERKNECHT syndrome" EXACT [] +synonym: "Kennerknecht syndrome" EXACT [] xref: MEDGEN:1679397 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600908 {source="MONDO:equivalentObsolete"} xref: OMIM:618419 {source="MONDO:equivalentTo"} @@ -507847,8 +507941,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032739 name: spermatogenic failure 36 -synonym: "SPERMATOGENIC FAILURE 36" RELATED [OMIM:618420] -synonym: "SPGF36" RELATED ABBREVIATION [OMIM:618420] +synonym: "SPERMATOGENIC FAILURE 36" RELATED [] +synonym: "SPGF36" RELATED ABBREVIATION [] xref: DOID:0111921 {source="MONDO:equivalentTo"} xref: MEDGEN:1678385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618420 {source="MONDO:equivalentTo"} @@ -507863,8 +507957,8 @@ name: hearing loss, autosomal recessive 100 subset: gard_rare {source="GARD:22660", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 100" NARROW [OMIM:618422, OMIM:genemap2] -synonym: "DFNB100" NARROW ABBREVIATION [OMIM:618422] +synonym: "deafness, autosomal recessive 100" NARROW [] +synonym: "DFNB100" NARROW ABBREVIATION [] xref: DOID:0111638 {source="MONDO:equivalentTo"} xref: GARD:22660 {source="MONDO:GARD"} xref: MEDGEN:1682525 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507880,8 +507974,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032741 name: neurodevelopmental disorder with impaired speech and hyperkinetic movements -synonym: "NEDISHM" RELATED ABBREVIATION [OMIM:618425] -synonym: "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS" RELATED [OMIM:618425] +synonym: "NEDISHM" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS" RELATED [] xref: MEDGEN:1681181 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618425 {source="MONDO:equivalentTo"} xref: UMLS:C5193088 {source="MEDGEN:1681181", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507893,8 +507987,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032742 name: encephalopathy, acute, infection-induced, susceptibility to, 9 -synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9" RELATED [OMIM:618426] -synonym: "IIAE9" RELATED ABBREVIATION [OMIM:618426] +synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9" RELATED [] +synonym: "IIAE9" RELATED ABBREVIATION [] xref: MEDGEN:1673394 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618426 {source="MONDO:equivalentTo"} xref: UMLS:C5193089 {source="MONDO:equivalentTo", source="MEDGEN:1673394", source="MONDO:MEDGEN"} @@ -507909,8 +508003,8 @@ id: MONDO:0032744 name: spermatogenic failure 37 subset: gard_rare {source="GARD:18408", source="MONDO:GARD"} subset: rare -synonym: "SPERMATOGENIC FAILURE 37" RELATED [OMIM:618429] -synonym: "SPGF37" RELATED ABBREVIATION [OMIM:618429] +synonym: "SPERMATOGENIC FAILURE 37" RELATED [] +synonym: "SPGF37" RELATED ABBREVIATION [] xref: DOID:0111927 {source="MONDO:equivalentTo"} xref: GARD:18408 {source="MONDO:GARD"} xref: MEDGEN:1677534 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507928,9 +508022,9 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18517", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DDVIBA" RELATED ABBREVIATION [OMIM:618430] -synonym: "DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES" RELATED [OMIM:618430] -synonym: "developmental delay with variable intellectual impairment and behavioral abnormalities" EXACT CLINGEN_LABEL [] +synonym: "DDVIBA" RELATED ABBREVIATION [] +synonym: "DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES" RELATED [] +synonym: "developmental delay with variable intellectual impairment and behavioral abnormalities" EXACT CLINGEN_LABEL [OMIM:618430] xref: GARD:18517 {source="MONDO:GARD"} xref: MEDGEN:1676192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618430 {source="MONDO:equivalentTo"} @@ -507945,8 +508039,8 @@ id: MONDO:0032746 name: hydatidiform mole, recurrent, 3 subset: gard_rare {source="GARD:18367", source="MONDO:GARD"} subset: rare -synonym: "HYDATIDIFORM MOLE, RECURRENT, 3" RELATED [OMIM:618431] -synonym: "HYDM3" RELATED ABBREVIATION [OMIM:618431] +synonym: "HYDATIDIFORM MOLE, RECURRENT, 3" RELATED [] +synonym: "HYDM3" RELATED ABBREVIATION [] xref: GARD:18367 {source="MONDO:GARD"} xref: MEDGEN:1677775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618431 {source="MONDO:equivalentTo"} @@ -507961,8 +508055,8 @@ id: MONDO:0032747 name: hydatidiform mole, recurrent, 4 subset: gard_rare {source="GARD:18368", source="MONDO:GARD"} subset: rare -synonym: "HYDATIDIFORM MOLE, RECURRENT, 4" RELATED [OMIM:618432] -synonym: "HYDM4" RELATED ABBREVIATION [OMIM:618432] +synonym: "HYDATIDIFORM MOLE, RECURRENT, 4" RELATED [] +synonym: "HYDM4" RELATED ABBREVIATION [] xref: GARD:18368 {source="MONDO:GARD"} xref: MEDGEN:1677210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618432 {source="MONDO:equivalentTo"} @@ -507977,8 +508071,8 @@ name: spermatogenic failure 38 subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18409", source="MONDO:GARD"} subset: rare -synonym: "SPERMATOGENIC FAILURE 38" RELATED [OMIM:618433] -synonym: "SPGF38" RELATED ABBREVIATION [OMIM:618433] +synonym: "SPERMATOGENIC FAILURE 38" RELATED [] +synonym: "SPGF38" RELATED ABBREVIATION [] xref: DOID:0111919 {source="MONDO:equivalentTo"} xref: GARD:18409 {source="MONDO:GARD"} xref: MEDGEN:1680356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -507996,8 +508090,8 @@ name: hearing loss, autosomal recessive 94 subset: gard_rare {source="GARD:22661", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 94" NARROW [OMIM:618434, OMIM:genemap2] -synonym: "DFNB94" NARROW ABBREVIATION [OMIM:618434] +synonym: "deafness, autosomal recessive 94" NARROW [] +synonym: "DFNB94" NARROW ABBREVIATION [] xref: DOID:0111641 {source="MONDO:equivalentTo"} xref: GARD:22661 {source="MONDO:GARD"} xref: MEDGEN:1679077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508016,7 +508110,7 @@ subset: gard_rare {source="GARD:16351", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "arthrogryposis, distal, type 2B2" EXACT [OMIM:618435] -synonym: "DA2B2" EXACT ABBREVIATION [DOID:0111600, OMIM:618435] +synonym: "DA2B2" EXACT ABBREVIATION [DOID:0111601, OMIM:618435] xref: DOID:0111601 {source="MONDO:equivalentTo"} xref: GARD:16351 {source="MONDO:GARD"} xref: MEDGEN:1674500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508038,7 +508132,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "arthrogryposis, distal, type 2B3" EXACT [OMIM:618436] -synonym: "arthrogryposis, distal, type 2B3 (Sheldon-Hall)" EXACT [OMIM:618436, OMIM:genemap2] +synonym: "arthrogryposis, distal, type 2B3 (Sheldon-Hall)" EXACT [] synonym: "DA2B3" EXACT ABBREVIATION [DOID:0111602, OMIM:618436] synonym: "distal arthrogryposis type 2B3 (Sheldon-Hall)" EXACT [DOID:0111602] xref: DOID:0111602 {source="MONDO:equivalentTo"} @@ -508060,9 +508154,9 @@ name: developmental and epileptic encephalopathy, 75 subset: gard_rare {source="GARD:16352", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE75" EXACT ABBREVIATION [OMIM:618437] -synonym: "developmental and epileptic encephalopathy 75" EXACT [OMIM:618437, OMIM:genemap2] -synonym: "EIEE75" EXACT ABBREVIATION [OMIM:618437] +synonym: "DEE75" EXACT ABBREVIATION [DOID:0112211, OMIM:618437] +synonym: "developmental and epileptic encephalopathy 75" EXACT [DOID:0112211, OMIM:618437] +synonym: "EIEE75" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75" EXACT [OMIM:618437] synonym: "epileptic encephalopathy, early infantile, 75" EXACT [OMIM:618437] xref: DOID:0112211 {source="MONDO:equivalentTo"} @@ -508082,8 +508176,8 @@ name: spastic ataxia 9, autosomal recessive subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE" RELATED [OMIM:618438] -synonym: "SPAX9" RELATED ABBREVIATION [OMIM:618438] +synonym: "SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE" RELATED [] +synonym: "SPAX9" RELATED ABBREVIATION [] xref: MEDGEN:1680026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618438 {source="MONDO:equivalentTo"} xref: UMLS:C5193100 {source="MEDGEN:1680026", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508095,8 +508189,8 @@ id: MONDO:0032755 name: neurodevelopmental disorder with or without variable brain abnormalities; NEDBA subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "NEDBA" RELATED ABBREVIATION [OMIM:618443] -synonym: "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES" RELATED [OMIM:618443] +synonym: "NEDBA" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES" RELATED [] xref: MEDGEN:1675664 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618443 {source="MONDO:equivalentTo"} xref: UMLS:C5193102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1675664"} @@ -508111,8 +508205,8 @@ id: MONDO:0032756 name: long qt syndrome 8 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "LONG QT SYNDROME 8" RELATED [OMIM:618447] -synonym: "LQT8" RELATED ABBREVIATION [OMIM:618447] +synonym: "LONG QT SYNDROME 8" RELATED [] +synonym: "LQT8" RELATED ABBREVIATION [] xref: DOID:0110649 {source="MONDO:equivalentTo"} xref: OMIM:618447 {source="MONDO:equivalentTo"} xref: Orphanet:65283 {source="OMIM:618447"} @@ -508128,8 +508222,8 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:16353", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CILD41" RELATED ABBREVIATION [OMIM:618449] -synonym: "CILIARY DYSKINESIA, PRIMARY, 41" RELATED [OMIM:618449] +synonym: "CILD41" RELATED ABBREVIATION [] +synonym: "CILIARY DYSKINESIA, PRIMARY, 41" RELATED [] xref: DOID:0111858 {source="MONDO:equivalentTo"} xref: GARD:16353 {source="MONDO:GARD"} xref: MEDGEN:1680404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508143,8 +508237,8 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond [Term] id: MONDO:0032758 name: neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia -synonym: "NDCAMA" RELATED ABBREVIATION [OMIM:618451] -synonym: "NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA" RELATED [OMIM:618451] +synonym: "NDCAMA" RELATED ABBREVIATION [] +synonym: "NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA" RELATED [] xref: MEDGEN:1676579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618451 {source="MONDO:equivalentTo"} xref: UMLS:C5193104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676579"} @@ -508154,8 +508248,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032759 name: intellectual developmental disorder with short stature and variable skeletal anomalies -synonym: "IDDSSA" RELATED ABBREVIATION [OMIM:618453] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES" RELATED [OMIM:618453] +synonym: "IDDSSA" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES" RELATED [] xref: MEDGEN:1680968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618453 {source="MONDO:equivalentTo"} xref: UMLS:C5193105 {source="MEDGEN:1680968", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508165,8 +508259,8 @@ is_a: MONDO:0003847 {source="OMIM:618453"} ! hereditary disease id: MONDO:0032760 name: developmental delay with or without dysmorphic facies and autism subset: otar {source="MONDO:OTAR"} -synonym: "DEDDFA" RELATED ABBREVIATION [OMIM:618454] -synonym: "DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM" RELATED [OMIM:618454] +synonym: "DEDDFA" RELATED ABBREVIATION [] +synonym: "DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM" RELATED [] xref: MEDGEN:1679263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618454 {source="MONDO:equivalentTo"} xref: UMLS:C5193106 {source="MEDGEN:1679263", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508179,8 +508273,8 @@ name: hearing loss, autosomal recessive 114 subset: gard_rare {source="GARD:22662", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 114" NARROW [OMIM:618456, OMIM:genemap2] -synonym: "DFNB114" NARROW ABBREVIATION [OMIM:618456] +synonym: "deafness, autosomal recessive 114" NARROW [] +synonym: "DFNB114" NARROW ABBREVIATION [] xref: DOID:0111642 {source="MONDO:equivalentTo"} xref: GARD:22662 {source="MONDO:GARD"} xref: MEDGEN:1684024 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508199,8 +508293,8 @@ name: hearing loss, autosomal recessive 115 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 115" NARROW [OMIM:618457, OMIM:genemap2] -synonym: "DFNB115" NARROW ABBREVIATION [OMIM:618457] +synonym: "deafness, autosomal recessive 115" NARROW [] +synonym: "DFNB115" NARROW ABBREVIATION [] xref: DOID:0111643 {source="MONDO:equivalentTo"} xref: MEDGEN:1681630 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618457 {source="MONDO:equivalentTo"} @@ -508215,9 +508309,9 @@ id: MONDO:0032763 name: immunodeficiency 62 subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "IMD62" RELATED ABBREVIATION [OMIM:618459] -synonym: "IMMUNODEFICIENCY 62" RELATED [OMIM:618459] -synonym: "immunodeficiency 62" EXACT CLINGEN_LABEL [] +synonym: "IMD62" RELATED ABBREVIATION [] +synonym: "IMMUNODEFICIENCY 62" RELATED [] +synonym: "immunodeficiency 62" EXACT CLINGEN_LABEL [DOID:0111991, OMIM:618459] xref: DOID:0111991 {source="MONDO:equivalentTo"} xref: MEDGEN:1673905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618459 {source="MONDO:equivalentTo"} @@ -508230,9 +508324,9 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond id: MONDO:0032764 name: Khan-Khan-Katsanis syndrome subset: clingen {source="MONDO:CLINGEN"} -synonym: "3K Syndrome" RELATED [OMIM:618460] -synonym: "3KS" RELATED ABBREVIATION [OMIM:618460] -synonym: "KHAN-KHAN-KATSANIS SYNDROME" RELATED [OMIM:618460] +synonym: "3K Syndrome" RELATED [] +synonym: "3KS" RELATED ABBREVIATION [] +synonym: "KHAN-KHAN-KATSANIS SYNDROME" RELATED [] xref: MEDGEN:1682553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618460 {source="MONDO:equivalentTo"} xref: UMLS:C5193110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682553"} @@ -508246,8 +508340,8 @@ name: bleeding disorder, platelet-type, 22 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BDPLT22" RELATED ABBREVIATION [OMIM:618462] -synonym: "BLEEDING DISORDER, PLATELET-TYPE, 22" RELATED [OMIM:618462] +synonym: "BDPLT22" RELATED ABBREVIATION [] +synonym: "BLEEDING DISORDER, PLATELET-TYPE, 22" RELATED [] xref: MEDGEN:1673822 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618462 {source="MONDO:equivalentTo"} xref: UMLS:C5193111 {source="MEDGEN:1673822", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508260,11 +508354,11 @@ name: hypoalphalipoproteinemia, primary, 2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ApoA-I and apoC-III deficiency, combined" BROAD [OMIM:618463, OMIM:genemap2] -synonym: "Apolipoprotein A-I Deficiency" RELATED [OMIM:618463] -synonym: "High Density Lipoprotein Deficiency" RELATED [OMIM:618463] +synonym: "ApoA-I and apoC-III deficiency, combined" BROAD [] +synonym: "Apolipoprotein A-I Deficiency" RELATED [] +synonym: "High Density Lipoprotein Deficiency" RELATED [] synonym: "HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2" EXACT [OMIM:618463] -synonym: "hypoalphalipoproteinemia, primary, 2, with or without corneal clouding" EXACT [OMIM:618463, OMIM:genemap2] +synonym: "hypoalphalipoproteinemia, primary, 2, with or without corneal clouding" EXACT [] xref: DOID:0080958 {source="MONDO:equivalentTo"} xref: MEDGEN:1789263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618463 {source="MONDO:equivalentTo"} @@ -508280,8 +508374,8 @@ name: paragangliomas 6 subset: gard_rare {source="GARD:16354", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PARAGANGLIOMAS 6" RELATED [OMIM:618464] -synonym: "PGL6" RELATED ABBREVIATION [OMIM:618464] +synonym: "PARAGANGLIOMAS 6" RELATED [] +synonym: "PGL6" RELATED ABBREVIATION [] xref: GARD:16354 {source="MONDO:GARD"} xref: MEDGEN:1681559 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618464 {source="MONDO:equivalentTo"} @@ -508297,10 +508391,10 @@ name: developmental and epileptic encephalopathy, 76 subset: gard_rare {source="GARD:16355", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE76" EXACT ABBREVIATION [OMIM:618468] -synonym: "developmental and epileptic encephalopathy 76" EXACT [OMIM:618468, OMIM:genemap2] -synonym: "Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination" RELATED [OMIM:618468] -synonym: "EIEE76" EXACT ABBREVIATION [OMIM:618468] +synonym: "DEE76" EXACT ABBREVIATION [DOID:0112212, OMIM:618468] +synonym: "developmental and epileptic encephalopathy 76" EXACT [DOID:0112212, OMIM:618468] +synonym: "Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination" RELATED [] +synonym: "EIEE76" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76" EXACT [OMIM:618468] synonym: "epileptic encephalopathy, early infantile, 76" EXACT [OMIM:618468] xref: DOID:0112212 {source="MONDO:equivalentTo"} @@ -508321,8 +508415,8 @@ def: "Any BAFopathy in which the cause of the disease is a mutation in the ACTL6 subset: gard_rare {source="GARD:18518", source="MONDO:GARD"} subset: rare synonym: "ACTL6B-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] -synonym: "IDDSSAD" RELATED ABBREVIATION [OMIM:618470] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS" RELATED [OMIM:618470] +synonym: "IDDSSAD" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS" RELATED [] xref: GARD:18518 {source="MONDO:GARD"} xref: MEDGEN:1682234 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618470 {source="MONDO:equivalentTo"} @@ -508339,8 +508433,8 @@ name: paragangliomas 7 subset: gard_rare {source="GARD:16356", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PARAGANGLIOMAS 7" RELATED [OMIM:618475] -synonym: "PGL7" RELATED ABBREVIATION [OMIM:618475] +synonym: "PARAGANGLIOMAS 7" RELATED [] +synonym: "PGL7" RELATED ABBREVIATION [] xref: GARD:16356 {source="MONDO:GARD"} xref: MEDGEN:1673088 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618475 {source="MONDO:equivalentTo"} @@ -508353,8 +508447,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032772 name: brain abnormalities, neurodegeneration, and dysosteosclerosis -synonym: "BANDDOS" RELATED ABBREVIATION [OMIM:618476] -synonym: "BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS" RELATED [OMIM:618476] +synonym: "BANDDOS" RELATED ABBREVIATION [] +synonym: "BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS" RELATED [] xref: MEDGEN:1678789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618476 {source="MONDO:equivalentTo"} xref: UMLS:C5193117 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678789"} @@ -508366,9 +508460,9 @@ id: MONDO:0032773 name: uridine-cytidineuria subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "URCTU" RELATED ABBREVIATION [OMIM:618477] -synonym: "URIDINE-CYTIDINEURIA" RELATED [OMIM:618477] -synonym: "uridine-cytidineuria" EXACT [OMIM:618477, OMIM:genemap2] +synonym: "URCTU" RELATED ABBREVIATION [] +synonym: "URIDINE-CYTIDINEURIA" RELATED [] +synonym: "uridine-cytidineuria" EXACT [OMIM:618477] xref: MEDGEN:1681582 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618477 {source="MONDO:equivalentTo"} xref: UMLS:C4760647 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1681582"} @@ -508379,8 +508473,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032774 name: cerebellar, ocular, craniofacial, and genital syndrome -synonym: "CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME" RELATED [OMIM:618479] -synonym: "COFG" RELATED ABBREVIATION [OMIM:618479] +synonym: "CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME" RELATED [] +synonym: "COFG" RELATED ABBREVIATION [] xref: MEDGEN:1680057 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618479 {source="MONDO:equivalentTo"} xref: UMLS:C5193118 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1680057"} @@ -508391,8 +508485,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032775 name: neurodevelopmental disorder with seizures and speech and walking impairment synonym: "deoxyhypusine synthase disorder" EXACT [https://rarediseases.org/rare-diseases/deoxyhypusine-synthase-disorder/] -synonym: "NEDSSWI" RELATED ABBREVIATION [OMIM:618480] -synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT" RELATED [OMIM:618480] +synonym: "NEDSSWI" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT" RELATED [] xref: MEDGEN:1672912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618480 {source="MONDO:equivalentTo"} xref: UMLS:C5193119 {source="MEDGEN:1672912", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508408,8 +508502,8 @@ name: hearing loss, autosomal recessive 99 subset: gard_rare {source="GARD:22663", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 99" NARROW [OMIM:618481, OMIM:genemap2] -synonym: "DFNB99" NARROW ABBREVIATION [OMIM:618481] +synonym: "deafness, autosomal recessive 99" NARROW [] +synonym: "DFNB99" NARROW ABBREVIATION [] xref: DOID:0111634 {source="MONDO:equivalentTo"} xref: GARD:22663 {source="MONDO:GARD"} xref: MEDGEN:1678930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508427,9 +508521,9 @@ id: MONDO:0032777 name: generalized epilepsy with febrile seizures plus, type 10 subset: gard_rare {source="GARD:18671", source="MONDO:GARD"} subset: rare -synonym: "Gefs+, Type 10" RELATED [OMIM:618482] -synonym: "GEFSP10" RELATED ABBREVIATION [OMIM:618482] -synonym: "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10" RELATED [OMIM:618482] +synonym: "Gefs+, Type 10" RELATED [] +synonym: "GEFSP10" RELATED ABBREVIATION [] +synonym: "GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10" RELATED [] xref: DOID:0111296 {source="MONDO:equivalentTo"} xref: GARD:18671 {source="MONDO:GARD"} xref: MEDGEN:1676426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508446,7 +508540,7 @@ name: arthrogryposis multiplex congenita 3, myogenic type subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AMCM" EXACT ABBREVIATION [OMIM:618484] +synonym: "AMCM" EXACT ABBREVIATION [] synonym: "arthrogryposis multiplex congenita, myogenic type" EXACT [OMIM:618484] xref: DOID:0080979 {source="MONDO:equivalentTo"} xref: MEDGEN:1680655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508462,8 +508556,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032779 name: neurodevelopmental disorder with microcephaly and structural brain anomalies -synonym: "NEDMIBA" RELATED ABBREVIATION [OMIM:618492] -synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES" RELATED [OMIM:618492] +synonym: "NEDMIBA" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES" RELATED [] xref: MEDGEN:1677276 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618492 {source="MONDO:equivalentTo"} xref: UMLS:C5193123 {source="MEDGEN:1677276", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508477,8 +508571,8 @@ id: MONDO:0032780 name: hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "HIDEA" RELATED ABBREVIATION [OMIM:618493] -synonym: "HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES" RELATED [OMIM:618493] +synonym: "HIDEA" RELATED ABBREVIATION [] +synonym: "HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES" RELATED [] xref: MEDGEN:1672905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618493 {source="MONDO:equivalentTo"} xref: Orphanet:656273 {source="MONDO:equivalentObsolete"} @@ -508490,8 +508584,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032781 name: congenital hypotonia, epilepsy, developmental delay, and digital anomalies subset: otar {source="MONDO:OTAR"} -synonym: "CHEDDA" RELATED ABBREVIATION [OMIM:618494] -synonym: "CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES" RELATED [OMIM:618494] +synonym: "CHEDDA" RELATED ABBREVIATION [] +synonym: "CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES" RELATED [] xref: MEDGEN:1674629 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618494 {source="MONDO:equivalentTo"} xref: UMLS:C5193125 {source="MEDGEN:1674629", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508503,11 +508597,11 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032782 name: immunodeficiency 63 with lymphoproliferation and autoimmunity -synonym: "Cd122 Deficiency" RELATED [OMIM:618495] -synonym: "Il2Rb Deficiency" RELATED [OMIM:618495] -synonym: "IMD63" RELATED ABBREVIATION [OMIM:618495] -synonym: "IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY" RELATED [OMIM:618495] -synonym: "Interleukin 2 Receptor, Beta, Deficiency of" RELATED [OMIM:618495] +synonym: "Cd122 Deficiency" RELATED [] +synonym: "Il2Rb Deficiency" RELATED [] +synonym: "IMD63" RELATED ABBREVIATION [] +synonym: "IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY" RELATED [] +synonym: "Interleukin 2 Receptor, Beta, Deficiency of" RELATED [] xref: DOID:0111997 {source="MONDO:equivalentTo"} xref: MEDGEN:1682943 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618495 {source="MONDO:equivalentTo"} @@ -508523,8 +508617,8 @@ def: "Any aortic valve disease characterized by aortic stenosis and/or bicuspid subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AORTIC VALVE DISEASE 3" RELATED [OMIM:618496] -synonym: "AOVD3" RELATED ABBREVIATION [OMIM:618496] +synonym: "AORTIC VALVE DISEASE 3" RELATED [] +synonym: "AOVD3" RELATED ABBREVIATION [] xref: DOID:0080977 {source="MONDO:equivalentTo"} xref: MEDGEN:1681142 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618496 {source="MONDO:equivalentTo"} @@ -508539,8 +508633,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032784 name: neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements -synonym: "NEDNEH" RELATED ABBREVIATION [OMIM:618497] -synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS" RELATED [OMIM:618497] +synonym: "NEDNEH" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS" RELATED [] xref: MEDGEN:1678038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618497 {source="MONDO:equivalentTo"} xref: UMLS:C5193128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1678038"} @@ -508555,8 +508649,8 @@ name: polydactyly, postaxial, type a10 subset: gard_rare {source="GARD:18178", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PAPA10" RELATED ABBREVIATION [OMIM:618498] -synonym: "POLYDACTYLY, POSTAXIAL, TYPE A10" RELATED [OMIM:618498] +synonym: "PAPA10" RELATED ABBREVIATION [] +synonym: "POLYDACTYLY, POSTAXIAL, TYPE A10" RELATED [] xref: GARD:18178 {source="MONDO:GARD"} xref: MEDGEN:1676955 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618498 {source="MONDO:equivalentTo"} @@ -508572,8 +508666,8 @@ name: Noonan syndrome 11 subset: gard_rare {source="GARD:16357", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "NOONAN SYNDROME 11" RELATED [OMIM:618499] -synonym: "NS11" RELATED ABBREVIATION [OMIM:618499] +synonym: "NOONAN SYNDROME 11" RELATED [] +synonym: "NS11" RELATED ABBREVIATION [] xref: DOID:0112169 {source="MONDO:equivalentTo"} xref: GARD:16357 {source="MONDO:GARD"} xref: MEDGEN:1681177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508593,9 +508687,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" RELATED [OMIM:618500] -synonym: "holoprosencephaly 12, with or without pancreatic agenesis" EXACT [OMIM:618500, OMIM:genemap2] -synonym: "HPE12" RELATED ABBREVIATION [OMIM:618500] +synonym: "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" RELATED [] +synonym: "holoprosencephaly 12, with or without pancreatic agenesis" EXACT [] +synonym: "HPE12" RELATED ABBREVIATION [] xref: DOID:0081398 {source="MONDO:equivalentTo"} xref: MEDGEN:1684550 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618500 {source="MONDO:equivalentTo"} @@ -508609,8 +508703,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032788 name: cerebellar atrophy with seizures and variable developmental delay -synonym: "CASVDD" RELATED ABBREVIATION [OMIM:618501] -synonym: "CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY" RELATED [OMIM:618501] +synonym: "CASVDD" RELATED ABBREVIATION [] +synonym: "CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY" RELATED [] xref: MEDGEN:1683734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618501 {source="MONDO:equivalentTo"} xref: UMLS:C5193132 {source="MEDGEN:1683734", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508623,9 +508717,9 @@ name: intellectual developmental disorder, autosomal recessive 71 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71" RELATED [OMIM:618504] -synonym: "Mental Retardation, Autosomal Recessive 71" RELATED [OMIM:618504] -synonym: "MRT71" RELATED ABBREVIATION [OMIM:618504] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71" RELATED [] +synonym: "Mental Retardation, Autosomal Recessive 71" RELATED [] +synonym: "MRT71" RELATED ABBREVIATION [] xref: DOID:0081232 {source="MONDO:equivalentTo"} xref: MEDGEN:1673448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618504 {source="MONDO:equivalentTo"} @@ -508638,8 +508732,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032790 name: neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities subset: otar {source="MONDO:OTAR"} -synonym: "NEDCFSA" RELATED ABBREVIATION [OMIM:618505] -synonym: "NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES" RELATED [OMIM:618505] +synonym: "NEDCFSA" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES" RELATED [] xref: DOID:0081443 {source="MONDO:equivalentTo"} xref: MEDGEN:1682403 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618505 {source="MONDO:equivalentTo"} @@ -508655,8 +508749,8 @@ name: Coffin-Siris syndrome 10 subset: gard_rare {source="GARD:16358", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "COFFIN-SIRIS SYNDROME 10" RELATED [OMIM:618506] -synonym: "CSS10" RELATED ABBREVIATION [OMIM:618506] +synonym: "COFFIN-SIRIS SYNDROME 10" RELATED [] +synonym: "CSS10" RELATED ABBREVIATION [] xref: DOID:0112371 {source="MONDO:equivalentTo"} xref: GARD:16358 {source="MONDO:GARD"} xref: MEDGEN:1683634 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508673,8 +508767,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "Charcot-Marie-Tooth Disease, Type 6C" EXACT [OMIM:618511] -synonym: "CMT 6C" EXACT [OMIM:618511] -synonym: "CMT6C" EXACT ABBREVIATION [OMIM:618511] +synonym: "CMT 6C" EXACT [] +synonym: "CMT6C" EXACT ABBREVIATION [] synonym: "HMSN 6C" EXACT [OMIM:618511] synonym: "HMSN6C" EXACT ABBREVIATION [OMIM:618511] synonym: "neuropathy, hereditary motor and sensory, type VIc, with optic atrophy" EXACT [OMIM:618511] @@ -508691,7 +508785,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032793 name: O'Donnell-Luria-Rodan syndrome synonym: "O'Donnell-Luria-Rodan syndrome" EXACT [OMIM:618512] -synonym: "ODLURO" RELATED ABBREVIATION [OMIM:618512] +synonym: "ODLURO" RELATED ABBREVIATION [] xref: MEDGEN:1677602 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618512 {source="MONDO:equivalentTo"} xref: UMLS:C5193138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1677602"} @@ -508704,8 +508798,8 @@ name: leber congenital amaurosis 19 subset: gard_rare {source="GARD:16359", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "LCA19" RELATED ABBREVIATION [OMIM:618513] -synonym: "LEBER CONGENITAL AMAUROSIS 19" RELATED [OMIM:618513] +synonym: "LCA19" RELATED ABBREVIATION [] +synonym: "LEBER CONGENITAL AMAUROSIS 19" RELATED [] xref: DOID:0081169 {source="MONDO:equivalentTo"} xref: GARD:16359 {source="MONDO:GARD"} xref: MEDGEN:1679297 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508725,10 +508819,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 59" RELATED [OMIM:618522] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 59" RELATED [] synonym: "intellectual developmental disorder 59" EXACT CLINGEN_LABEL [] -synonym: "Mental Retardation, Autosomal Dominant 59" RELATED [OMIM:618522] -synonym: "MRD59" RELATED ABBREVIATION [OMIM:618522] +synonym: "Mental Retardation, Autosomal Dominant 59" RELATED [] +synonym: "MRD59" RELATED ABBREVIATION [] xref: MEDGEN:1678593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618522 {source="MONDO:equivalentTo"} xref: UMLS:C5193190 {source="MEDGEN:1678593", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508743,9 +508837,9 @@ name: hyper-IgE recurrent infection syndrome 4, autosomal recessive subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HIES4" RELATED ABBREVIATION [OMIM:618523] -synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE" RELATED [OMIM:618523] -synonym: "hyper-IgE recurrent infection syndrome 4B, autosomal recessive" EXACT [OMIM:618523, OMIM:genemap2] +synonym: "HIES4" RELATED ABBREVIATION [] +synonym: "HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE" RELATED [] +synonym: "hyper-IgE recurrent infection syndrome 4B, autosomal recessive" EXACT [OMIM:618523] xref: DOID:0080596 {source="MONDO:equivalentTo"} xref: MEDGEN:1673363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618523 {source="MONDO:equivalentTo"} @@ -508760,9 +508854,9 @@ id: MONDO:0032797 name: myopathy, congenital, with tremor subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Myogenic Tremor" RELATED [OMIM:618524] -synonym: "MYOPATHY, CONGENITAL, WITH TREMOR" RELATED [OMIM:618524] -synonym: "MYOTREM" RELATED ABBREVIATION [OMIM:618524] +synonym: "Myogenic Tremor" RELATED [] +synonym: "MYOPATHY, CONGENITAL, WITH TREMOR" RELATED [] +synonym: "MYOTREM" RELATED ABBREVIATION [] xref: DOID:0081348 {source="MONDO:equivalentTo"} xref: MEDGEN:1684886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618524 {source="MONDO:equivalentTo"} @@ -508774,9 +508868,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032798 name: ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features -synonym: "ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES" RELATED [OMIM:618527] -synonym: "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies" EXACT [OMIM:618527, OMIM:genemap2] -synonym: "IKSHD" RELATED ABBREVIATION [OMIM:618527] +synonym: "ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES" RELATED [] +synonym: "ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies" EXACT [] +synonym: "IKSHD" RELATED ABBREVIATION [] xref: MEDGEN:1682428 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618527 {source="MONDO:equivalentTo"} xref: UMLS:C5193147 {source="MEDGEN:1682428", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508790,8 +508884,8 @@ name: mitochondrial DNA depletion syndrome 16 (hepatic type) subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)" RELATED [OMIM:618528] -synonym: "MTDPS16" RELATED ABBREVIATION [OMIM:618528] +synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)" RELATED [] +synonym: "MTDPS16" RELATED ABBREVIATION [] xref: DOID:0070446 {source="MONDO:equivalentTo"} xref: MEDGEN:1684495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618528 {source="MONDO:equivalentTo"} @@ -508805,8 +508899,8 @@ name: robinow syndrome, autosomal recessive 2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2" RELATED [OMIM:618529] -synonym: "RRS2" RELATED ABBREVIATION [OMIM:618529] +synonym: "ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2" RELATED [] +synonym: "RRS2" RELATED ABBREVIATION [] xref: DOID:0060974 {source="MONDO:equivalentTo"} xref: MEDGEN:1676687 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618529 {source="MONDO:equivalentTo"} @@ -508822,8 +508916,8 @@ name: erythrokeratodermia variabilis et progressiva 6 subset: gard_rare {source="GARD:18672", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EKVP6" RELATED ABBREVIATION [OMIM:618531] -synonym: "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6" RELATED [OMIM:618531] +synonym: "EKVP6" RELATED ABBREVIATION [] +synonym: "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6" RELATED [] xref: DOID:0080766 {source="MONDO:equivalentTo"} xref: GARD:18672 {source="MONDO:GARD"} xref: MEDGEN:1681026 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508840,9 +508934,9 @@ name: hearing loss, autosomal dominant 37 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEAFNESS, AUTOSOMAL DOMINANT 37" NARROW [OMIM:618533] -synonym: "deafness, autosomal dominant 37" NARROW [OMIM:618533, OMIM:genemap2] -synonym: "DFNA37" NARROW ABBREVIATION [OMIM:618533] +synonym: "DEAFNESS, AUTOSOMAL DOMINANT 37" NARROW [] +synonym: "deafness, autosomal dominant 37" NARROW [] +synonym: "DFNA37" NARROW ABBREVIATION [] xref: MEDGEN:1676950 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618533 {source="MONDO:equivalentTo"} xref: UMLS:C4760307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1676950"} @@ -508857,8 +508951,8 @@ id: MONDO:0032803 name: immunodeficiency 64 subset: gard_rare {source="GARD:16360", source="MONDO:GARD"} subset: rare -synonym: "IMD64" RELATED ABBREVIATION [OMIM:618534] -synonym: "IMMUNODEFICIENCY 64" RELATED [OMIM:618534] +synonym: "IMD64" RELATED ABBREVIATION [] +synonym: "IMMUNODEFICIENCY 64" RELATED [] xref: DOID:0111980 {source="MONDO:equivalentTo"} xref: GARD:16360 {source="MONDO:GARD"} xref: MEDGEN:1684716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508875,8 +508969,8 @@ name: ectodermal dysplasia 15, hypohidrotic/hair type subset: gard_rare {source="GARD:16361", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD15" RELATED ABBREVIATION [OMIM:618535] -synonym: "ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE" RELATED [OMIM:618535] +synonym: "ECTD15" RELATED ABBREVIATION [] +synonym: "ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE" RELATED [] xref: DOID:0111651 {source="MONDO:equivalentTo"} xref: GARD:16361 {source="MONDO:GARD"} xref: MEDGEN:1680605 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508890,8 +508984,8 @@ is_a: MONDO:0019287 {source="DOID:0111651", source="OMIM:618535"} ! ectodermal d id: MONDO:0032805 name: hypopigmentation, organomegaly, and delayed myelination and development subset: otar {source="MONDO:OTAR"} -synonym: "HOD" RELATED ABBREVIATION [OMIM:618541] -synonym: "HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT" RELATED [OMIM:618541] +synonym: "HOD" RELATED ABBREVIATION [] +synonym: "HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT" RELATED [] xref: MEDGEN:1684826 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618541 {source="MONDO:equivalentTo"} xref: UMLS:C5203300 {source="MEDGEN:1684826", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508904,8 +508998,8 @@ name: trichothiodystrophy 7, nonphotosensitive subset: gard_rare {source="GARD:16362", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE" RELATED [OMIM:618546] -synonym: "TTD7" RELATED ABBREVIATION [OMIM:618546] +synonym: "TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE" RELATED [] +synonym: "TTD7" RELATED ABBREVIATION [] xref: DOID:0111870 {source="MONDO:equivalentTo"} xref: GARD:16362 {source="MONDO:GARD"} xref: MEDGEN:1684762 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508920,8 +509014,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032807 name: neurodevelopmental disorder with visual defects and brain anomalies -synonym: "NEDVIBA" RELATED ABBREVIATION [OMIM:618547] -synonym: "NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES" RELATED [OMIM:618547] +synonym: "NEDVIBA" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES" RELATED [] xref: MEDGEN:1684774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618547 {source="MONDO:equivalentTo"} xref: UMLS:C5231404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684774"} @@ -508936,11 +509030,11 @@ name: developmental and epileptic encephalopathy, 77 subset: gard_rare {source="GARD:16363", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE77" EXACT ABBREVIATION [OMIM:618548] -synonym: "EIEE77" EXACT ABBREVIATION [OMIM:618548] +synonym: "DEE77" EXACT ABBREVIATION [DOID:0112213] +synonym: "EIEE77" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 77" EXACT [OMIM:618548] -synonym: "glycosylphosphatidylinositol biosynthesis defect 19" RELATED [OMIM:618548] -synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 4" EXACT [OMIM:618548] +synonym: "glycosylphosphatidylinositol biosynthesis defect 19" RELATED [] +synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 4" EXACT [DOID:0112213, OMIM:618548] xref: DOID:0112213 {source="MONDO:equivalentTo"} xref: GARD:16363 {source="MONDO:GARD"} xref: MEDGEN:1684735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508958,8 +509052,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032809 name: hepatitis, fulminant viral, susceptibility to -synonym: "FVH" RELATED ABBREVIATION [OMIM:618549] -synonym: "HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO" RELATED [OMIM:618549] +synonym: "FVH" RELATED ABBREVIATION [] +synonym: "HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO" RELATED [] xref: MEDGEN:1684882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618549 {source="MONDO:equivalentTo"} xref: UMLS:C5231406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684882"} @@ -508969,8 +509063,8 @@ relationship: excluded_subClassOf MONDO:0003847 {source="OMIM:618549", source="h [Term] id: MONDO:0032810 name: oocyte maturation defect 7 -synonym: "OOCYTE MATURATION DEFECT 7" RELATED [OMIM:618550] -synonym: "OOMD7" RELATED ABBREVIATION [OMIM:618550] +synonym: "OOCYTE MATURATION DEFECT 7" RELATED [] +synonym: "OOMD7" RELATED ABBREVIATION [] xref: MEDGEN:1684736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618550 {source="MONDO:equivalentTo"} xref: UMLS:C5231407 {source="MEDGEN:1684736", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -508985,7 +509079,7 @@ subset: gard_rare {source="GARD:16364", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CSNB1I" EXACT ABBREVIATION [OMIM:618555] -synonym: "night blindness, congenital stationary, type 1I" EXACT [OMIM:618555, OMIM:genemap2] +synonym: "night blindness, congenital stationary, type 1I" EXACT [] synonym: "NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I" EXACT [OMIM:618555] xref: GARD:16364 {source="MONDO:GARD"} xref: MEDGEN:1684817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509006,9 +509100,9 @@ name: developmental and epileptic encephalopathy, 78 subset: gard_rare {source="GARD:16365", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE78" EXACT ABBREVIATION [OMIM:618557] -synonym: "developmental and epileptic encephalopathy 78" EXACT [OMIM:618557, OMIM:genemap2] -synonym: "EIEE78" EXACT ABBREVIATION [OMIM:618557] +synonym: "DEE78" EXACT ABBREVIATION [DOID:0112214, OMIM:618557] +synonym: "developmental and epileptic encephalopathy 78" EXACT [DOID:0112214, OMIM:618557] +synonym: "EIEE78" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78" EXACT [OMIM:618557] synonym: "epileptic encephalopathy, early infantile, 78" EXACT [OMIM:618557] xref: DOID:0112214 {source="MONDO:equivalentTo"} @@ -509028,9 +509122,9 @@ name: developmental and epileptic encephalopathy, 79 subset: gard_rare {source="GARD:16366", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE79" EXACT ABBREVIATION [OMIM:618559] -synonym: "developmental and epileptic encephalopathy 79" EXACT [OMIM:618559, OMIM:genemap2] -synonym: "EIEE79" EXACT ABBREVIATION [OMIM:618559] +synonym: "DEE79" EXACT ABBREVIATION [DOID:0112215, OMIM:618559] +synonym: "developmental and epileptic encephalopathy 79" EXACT [DOID:0112215, OMIM:618559] +synonym: "EIEE79" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79" EXACT [OMIM:618559] synonym: "epileptic encephalopathy, early infantile, 79" EXACT [OMIM:618559] xref: DOID:0112215 {source="MONDO:equivalentTo"} @@ -509051,10 +509145,10 @@ subset: gard_rare {source="GARD:17855", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:477749"} subset: orphanet_rare {source="Orphanet:477749"} subset: rare -synonym: "Dementia, Hereditary Multi-Infarct, Swedish Type" RELATED [OMIM:618564] +synonym: "Dementia, Hereditary Multi-Infarct, Swedish Type" RELATED [] synonym: "MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT" EXACT [OMIM:618564] synonym: "PADMAL" EXACT ABBREVIATION [OMIM:618564, Orphanet:477749] -synonym: "pontine autosomal dominant microangiopathy with leukoencephalopathy" EXACT [MONDO:0018786] +synonym: "pontine autosomal dominant microangiopathy with leukoencephalopathy" EXACT [MONDO:0018786, Orphanet:477749] xref: GARD:17855 {source="MONDO:GARD"} xref: MEDGEN:1684781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618564 {source="MONDO:equivalentTo"} @@ -509070,8 +509164,8 @@ id: MONDO:0032815 name: mitochondrial DNA depletion syndrome 17 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 17" RELATED [OMIM:618567] -synonym: "MTDPS17" RELATED ABBREVIATION [OMIM:618567] +synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 17" RELATED [] +synonym: "MTDPS17" RELATED ABBREVIATION [] xref: DOID:0070448 {source="MONDO:equivalentTo"} xref: MEDGEN:1684823 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618567 {source="MONDO:equivalentTo"} @@ -509085,8 +509179,8 @@ id: MONDO:0032816 name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly subset: gard_rare {source="GARD:18519", source="MONDO:GARD"} subset: rare -synonym: "NEDAHM" RELATED ABBREVIATION [OMIM:618569] -synonym: "NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY" RELATED [OMIM:618569] +synonym: "NEDAHM" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY" RELATED [] xref: GARD:18519 {source="MONDO:GARD"} xref: MEDGEN:1684871 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618569 {source="MONDO:equivalentTo"} @@ -509100,8 +509194,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032817 name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies -synonym: "NDCAGF" RELATED ABBREVIATION [OMIM:618571] -synonym: "NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES" RELATED [OMIM:618571] +synonym: "NDCAGF" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES" RELATED [] xref: DOID:0070346 {source="MONDO:equivalentTo"} xref: MEDGEN:1684661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618571 {source="MONDO:equivalentTo"} @@ -509114,8 +509208,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032818 name: neurodevelopmental disorder with cerebellar hypoplasia and spasticity -synonym: "NEDCHS" RELATED ABBREVIATION [OMIM:618572] -synonym: "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY" RELATED [OMIM:618572] +synonym: "NEDCHS" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY" RELATED [] xref: MEDGEN:1684815 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618572 {source="MONDO:equivalentTo"} xref: UMLS:C5231415 {source="MEDGEN:1684815", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509131,14 +509225,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:99832"} subset: orphanet_rare {source="Orphanet:99832"} subset: rare -synonym: "central hypothyroidism due to TRH receptor deficiency" EXACT [Orphanet:99832] -synonym: "CHNG7" RELATED ABBREVIATION [OMIM:618573] -synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7" RELATED [OMIM:618573] -synonym: "hypothyroidism, congenital, nongoitrous, 7" EXACT CLINGEN_LABEL [] -synonym: "resistance to thyrotropin-releasing hormone syndrome" EXACT [MONDO:0020503] +synonym: "central hypothyroidism due to TRH receptor deficiency" EXACT [DOID:0111836, Orphanet:99832] +synonym: "CHNG7" RELATED ABBREVIATION [] +synonym: "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7" RELATED [] +synonym: "hypothyroidism, congenital, nongoitrous, 7" EXACT CLINGEN_LABEL [OMIM:618573] +synonym: "resistance to thyrotropin-releasing hormone syndrome" EXACT [DOID:0111836, MONDO:0020503, Orphanet:99832] synonym: "thyrotropin-releasing hormone resistance, generalised" RELATED OMO:0003005 [] -synonym: "thyrotropin-releasing hormone resistance, generalized" RELATED [OMIM:618573] -synonym: "TRH resistance syndrome" EXACT [Orphanet:99832] +synonym: "thyrotropin-releasing hormone resistance, generalized" RELATED [] +synonym: "TRH resistance syndrome" EXACT [DOID:0111836, Orphanet:99832] xref: DOID:0111836 {source="MONDO:equivalentTo"} xref: GARD:16914 {source="MONDO:GARD"} xref: ICD10CM:E03.1 {source="Orphanet:99832", source="Orphanet:99832/attributed", source="Orphanet:99832/ntbt"} @@ -509161,8 +509255,8 @@ name: neurodevelopmental disorder with structural brain anomalies and dysmorphic subset: ordo_disorder {source="Orphanet:659609"} subset: orphanet_rare {source="Orphanet:659609"} subset: rare -synonym: "NEDBAF" RELATED ABBREVIATION [OMIM:618577] -synonym: "NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES" RELATED [OMIM:618577] +synonym: "NEDBAF" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES" RELATED [] xref: MEDGEN:1684725 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618577 {source="MONDO:equivalentTo"} xref: Orphanet:659609 {source="MONDO:equivalentTo"} @@ -509178,7 +509272,7 @@ name: myopathy, congenital, progressive, with scoliosis subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "myopathy, congenital, progressive, with scoliosis" EXACT [OMIM:618578] -synonym: "MYOSCO" EXACT ABBREVIATION [OMIM:618578] +synonym: "MYOSCO" EXACT ABBREVIATION [] xref: DOID:0081351 {source="MONDO:equivalentTo"} xref: MEDGEN:1684769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618578 {source="MONDO:equivalentTo"} @@ -509193,12 +509287,12 @@ name: developmental and epileptic encephalopathy, 80 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE80" EXACT ABBREVIATION [OMIM:618580] -synonym: "developmental and epileptic encephalopathy 80" EXACT [OMIM:618580, OMIM:genemap2] -synonym: "EIEE80" EXACT ABBREVIATION [OMIM:618580] +synonym: "DEE80" EXACT ABBREVIATION [DOID:0112216, OMIM:618580] +synonym: "developmental and epileptic encephalopathy 80" EXACT [DOID:0112216, OMIM:618580] +synonym: "EIEE80" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80" EXACT [OMIM:618580] synonym: "epileptic encephalopathy, early infantile, 80" EXACT [OMIM:618580] -synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 20" RELATED [OMIM:618580] +synonym: "Glycosylphosphatidylinositol Biosynthesis Defect 20" RELATED [] xref: DOID:0112216 {source="MONDO:equivalentTo"} xref: MEDGEN:1684779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618580 {source="MONDO:equivalentTo"} @@ -509215,9 +509309,9 @@ name: intellectual developmental disorder 60 with seizures subset: gard_rare {source="GARD:16367", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES" RELATED [OMIM:618587] -synonym: "Mental Retardation, Autosomal Dominant 60, With Seizures" RELATED [OMIM:618587] -synonym: "MRD60" RELATED ABBREVIATION [OMIM:618587] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES" RELATED [] +synonym: "Mental Retardation, Autosomal Dominant 60, With Seizures" RELATED [] +synonym: "MRD60" RELATED ABBREVIATION [] xref: GARD:16367 {source="MONDO:GARD"} xref: MEDGEN:1684702 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618587 {source="MONDO:equivalentTo"} @@ -509231,9 +509325,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032824 name: glycosylphosphatidylinositol biosynthesis defect 21 subset: clingen {source="MONDO:CLINGEN"} -synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21" RELATED [OMIM:618590] -synonym: "GPIBD21" RELATED ABBREVIATION [OMIM:618590] -synonym: "Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis" RELATED [OMIM:618590] +synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21" RELATED [] +synonym: "GPIBD21" RELATED ABBREVIATION [] +synonym: "Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis" RELATED [] xref: MEDGEN:1684749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618590 {source="MONDO:equivalentTo"} xref: UMLS:C5231419 {source="MEDGEN:1684749", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509244,8 +509338,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032826 name: nephrotic syndrome, type 21 -synonym: "NEPHROTIC SYNDROME, TYPE 21" RELATED [OMIM:618594] -synonym: "NPHS21" RELATED ABBREVIATION [OMIM:618594] +synonym: "NEPHROTIC SYNDROME, TYPE 21" RELATED [] +synonym: "NPHS21" RELATED ABBREVIATION [] xref: DOID:0112267 {source="MONDO:equivalentTo"} xref: MEDGEN:1684676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618594 {source="MONDO:equivalentTo"} @@ -509270,9 +509364,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032828 name: spastic tetraplegia and axial hypotonia, progressive -synonym: "Sod1 Deficiency, Autosomal Recessive" RELATED [OMIM:618598] -synonym: "SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE" RELATED [OMIM:618598] -synonym: "STAHP" RELATED ABBREVIATION [OMIM:618598] +synonym: "Sod1 Deficiency, Autosomal Recessive" RELATED [] +synonym: "SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE" RELATED [] +synonym: "STAHP" RELATED ABBREVIATION [] xref: MEDGEN:1684731 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618598 {source="MONDO:equivalentTo"} xref: UMLS:C5231422 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684731"} @@ -509285,7 +509379,7 @@ name: neurodevelopmental disorder with hypotonia and variable intellectual and b def: "Neurodevelopmental disorder in which the cause of the disease is a variation in the POLR2A gene; it is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Other features may include feeding difficulties, dysmorphic features, and visual problems. Brain magnetic resonance imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles." [https://orcid.org/0000-0001-9310-0163, PMID:31353023, PMID:35328024] subset: clingen {source="MONDO:CLINGEN"} synonym: "NEDHIB" EXACT ABBREVIATION [OMIM:618603] -synonym: "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities" EXACT CLINGEN_LABEL [] +synonym: "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities" EXACT CLINGEN_LABEL [OMIM:618603] synonym: "POLR2A-associated neurodevelopmental disability" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:31353023, PMID:35328024] synonym: "POLR2A-related disorder" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:31353023] xref: MEDGEN:1684818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509305,8 +509399,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:656135"} subset: orphanet_rare {source="Orphanet:656135"} subset: rare -synonym: "SNIBFIS" RELATED ABBREVIATION [OMIM:618604] -synonym: "SNIJDERS BLOK-FISHER SYNDROME" RELATED [OMIM:618604] +synonym: "SNIBFIS" RELATED ABBREVIATION [] +synonym: "SNIJDERS BLOK-FISHER SYNDROME" RELATED [] xref: MEDGEN:1684801 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618604 {source="MONDO:equivalentTo"} xref: Orphanet:656135 {source="MONDO:equivalentTo"} @@ -509322,7 +509416,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:613267"} subset: orphanet_rare {source="Orphanet:613267"} subset: rare -synonym: "PCH13" EXACT ABBREVIATION [OMIM:618606, Orphanet:613267] +synonym: "PCH13" EXACT ABBREVIATION [DOID:0112332, OMIM:618606, Orphanet:613267] synonym: "PONTOCEREBELLAR HYPOPLASIA, TYPE 13" EXACT [OMIM:618606] xref: DOID:0112332 {source="MONDO:equivalentTo"} xref: GARD:18031 {source="MONDO:GARD"} @@ -509337,9 +509431,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032832 name: intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies -synonym: "Chromosome 12Q15 Deletion Syndrome" RELATED [OMIM:618608] -synonym: "IDNADFS" RELATED ABBREVIATION [OMIM:618608] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES" RELATED [OMIM:618608] +synonym: "Chromosome 12Q15 Deletion Syndrome" RELATED [] +synonym: "IDNADFS" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES" RELATED [] xref: MEDGEN:1684881 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618608 {source="MONDO:equivalentTo"} xref: UMLS:C5231426 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684881"} @@ -509349,8 +509443,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032833 name: lower urinary tract obstruction, congenital -synonym: "LOWER URINARY TRACT OBSTRUCTION, CONGENITAL" RELATED [OMIM:618612] -synonym: "LUTO" RELATED ABBREVIATION [OMIM:618612] +synonym: "LOWER URINARY TRACT OBSTRUCTION, CONGENITAL" RELATED [] +synonym: "LUTO" RELATED ABBREVIATION [] xref: MEDGEN:1684849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618612 {source="MONDO:equivalentTo"} xref: Orphanet:93110 {source="OMIM:618612"} @@ -509366,8 +509460,8 @@ name: retinitis pigmentosa 86 subset: gard_rare {source="GARD:16368", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RETINITIS PIGMENTOSA 86" RELATED [OMIM:618613] -synonym: "RP86" RELATED ABBREVIATION [OMIM:618613] +synonym: "RETINITIS PIGMENTOSA 86" RELATED [] +synonym: "RP86" RELATED ABBREVIATION [] xref: DOID:0112143 {source="MONDO:equivalentTo"} xref: GARD:16368 {source="MONDO:GARD"} xref: MEDGEN:1684789 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509384,8 +509478,8 @@ name: spondyloepiphyseal dysplasia, nishimura type subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SEDN" RELATED ABBREVIATION [OMIM:618618] -synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE" RELATED [OMIM:618618] +synonym: "SEDN" RELATED ABBREVIATION [] +synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE" RELATED [] xref: DOID:0112288 {source="MONDO:equivalentTo"} xref: icd11.foundation:523290419 {source="MONDO:equivalentTo"} xref: MEDGEN:930816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509417,8 +509511,8 @@ id: MONDO:0032837 name: abdominal obesity-metabolic syndrome 4 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ABDOMINAL OBESITY-METABOLIC SYNDROME 4" RELATED [OMIM:618620] -synonym: "AOMS4" RELATED ABBREVIATION [OMIM:618620] +synonym: "ABDOMINAL OBESITY-METABOLIC SYNDROME 4" RELATED [] +synonym: "AOMS4" RELATED ABBREVIATION [] xref: DOID:0080945 {source="MONDO:equivalentTo"} xref: MEDGEN:1704861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618620 {source="MONDO:equivalentTo"} @@ -509433,8 +509527,8 @@ name: neurodevelopmental disorder with microcephaly, arthrogryposis, and structu subset: ordo_disorder {source="Orphanet:664923"} subset: orphanet_rare {source="Orphanet:664923"} subset: rare -synonym: "NEDMABA" RELATED ABBREVIATION [OMIM:618622] -synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES" RELATED [OMIM:618622] +synonym: "NEDMABA" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES" RELATED [] xref: MEDGEN:1684840 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618622 {source="MONDO:equivalentTo"} xref: Orphanet:664923 {source="MONDO:equivalentTo"} @@ -509450,8 +509544,8 @@ name: noonan syndrome 12 subset: gard_rare {source="GARD:16369", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "NOONAN SYNDROME 12" RELATED [OMIM:618624] -synonym: "NS12" RELATED ABBREVIATION [OMIM:618624] +synonym: "NOONAN SYNDROME 12" RELATED [] +synonym: "NS12" RELATED ABBREVIATION [] xref: DOID:0112170 {source="MONDO:equivalentTo"} xref: GARD:16369 {source="MONDO:GARD"} xref: MEDGEN:1684730 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509468,8 +509562,8 @@ id: MONDO:0032841 name: Usher syndrome, type 1M subset: gard_rare {source="GARD:16370", source="MONDO:GARD"} subset: rare -synonym: "USH1M" RELATED ABBREVIATION [OMIM:618632] -synonym: "USHER SYNDROME, TYPE 1M" RELATED [OMIM:618632] +synonym: "USH1M" RELATED ABBREVIATION [] +synonym: "USHER SYNDROME, TYPE 1M" RELATED [] xref: GARD:16370 {source="MONDO:GARD"} xref: MEDGEN:1684669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618632 {source="MONDO:equivalentTo"} @@ -509481,9 +509575,9 @@ is_a: MONDO:0003847 {source="OMIM:618632"} ! hereditary disease id: MONDO:0032842 name: Siddiqi syndrome subset: clingen {source="MONDO:CLINGEN"} -synonym: "Deafness, Dystonia, Developmental Delay, and Poor Growth" RELATED [OMIM:618635] -synonym: "SIDDIQI SYNDROME" RELATED [OMIM:618635] -synonym: "SIDDIS" RELATED ABBREVIATION [OMIM:618635] +synonym: "Deafness, Dystonia, Developmental Delay, and Poor Growth" RELATED [] +synonym: "SIDDIQI SYNDROME" RELATED [] +synonym: "SIDDIS" RELATED ABBREVIATION [] xref: DOID:0081273 {source="MONDO:equivalentTo"} xref: MEDGEN:1684813 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618635 {source="MONDO:equivalentTo"} @@ -509496,8 +509590,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032843 name: oculopharyngeal myopathy with leukoencephalopathy 1 subset: otar {source="MONDO:OTAR"} -synonym: "OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1" RELATED [OMIM:618637] -synonym: "OPML1" RELATED ABBREVIATION [OMIM:618637] +synonym: "OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1" RELATED [] +synonym: "OPML1" RELATED ABBREVIATION [] xref: MEDGEN:1684701 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618637 {source="MONDO:equivalentTo"} xref: UMLS:C5231436 {source="MEDGEN:1684701", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509509,8 +509603,8 @@ name: infantile liver failure syndrome 3 subset: gard_rare {source="GARD:16483", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ILFS3" RELATED ABBREVIATION [OMIM:618641] -synonym: "INFANTILE LIVER FAILURE SYNDROME 3" RELATED [OMIM:618641] +synonym: "ILFS3" RELATED ABBREVIATION [] +synonym: "INFANTILE LIVER FAILURE SYNDROME 3" RELATED [] xref: GARD:16483 {source="MONDO:GARD"} xref: MEDGEN:1684678 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618641 {source="MONDO:equivalentTo"} @@ -509526,8 +509620,8 @@ name: spermatogenic failure 39 subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18410", source="MONDO:GARD"} subset: rare -synonym: "SPERMATOGENIC FAILURE 39" RELATED [OMIM:618643] -synonym: "SPGF39" RELATED ABBREVIATION [OMIM:618643] +synonym: "SPERMATOGENIC FAILURE 39" RELATED [] +synonym: "SPGF39" RELATED ABBREVIATION [] xref: DOID:0111926 {source="MONDO:equivalentTo"} xref: GARD:18410 {source="MONDO:GARD"} xref: MEDGEN:1684778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509544,8 +509638,8 @@ id: MONDO:0032846 name: osteogenesis imperfecta, type 20 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "OI20" RELATED ABBREVIATION [OMIM:618644] -synonym: "OSTEOGENESIS IMPERFECTA, TYPE XX" RELATED [OMIM:618644] +synonym: "OI20" RELATED ABBREVIATION [] +synonym: "OSTEOGENESIS IMPERFECTA, TYPE XX" RELATED [] xref: DOID:0111849 {source="MONDO:equivalentTo"} xref: MEDGEN:1684751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618644 {source="MONDO:equivalentTo"} @@ -509557,8 +509651,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032848 name: immunodeficiency 65, susceptibility to viral infections -synonym: "IMD65" RELATED ABBREVIATION [OMIM:618648] -synonym: "IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS" RELATED [OMIM:618648] +synonym: "IMD65" RELATED ABBREVIATION [] +synonym: "IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS" RELATED [] xref: DOID:0111978 {source="MONDO:equivalentTo"} xref: MEDGEN:1684865 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618648 {source="MONDO:equivalentTo"} @@ -509570,9 +509664,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032849 name: neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies -synonym: "Halperin-Birk syndrome" EXACT [OMIM:618651, OMIM:genemap2] -synonym: "NEDSOSB" RELATED ABBREVIATION [OMIM:618651] -synonym: "NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES" RELATED [OMIM:618651] +synonym: "Halperin-Birk syndrome" EXACT [DOID:0070539, OMIM:618651] +synonym: "NEDSOSB" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES" RELATED [] xref: DOID:0070539 {source="MONDO:equivalentTo"} xref: MEDGEN:1684884 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618651 {source="MONDO:equivalentTo"} @@ -509585,8 +509679,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032850 name: neurooculocardiogenitourinary syndrome -synonym: "NEUROOCULOCARDIOGENITOURINARY SYNDROME" RELATED [OMIM:618652] -synonym: "NOCGUS" RELATED ABBREVIATION [OMIM:618652] +synonym: "NEUROOCULOCARDIOGENITOURINARY SYNDROME" RELATED [] +synonym: "NOCGUS" RELATED ABBREVIATION [] xref: DOID:0111675 {source="MONDO:equivalentTo"} xref: MEDGEN:1684841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618652 {source="MONDO:equivalentTo"} @@ -509599,8 +509693,8 @@ id: MONDO:0032851 name: intellectual developmental disorder with impaired language and dysmorphic facies subset: gard_rare {source="GARD:18520", source="MONDO:GARD"} subset: rare -synonym: "IDDILF" RELATED ABBREVIATION [OMIM:618653] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES" RELATED [OMIM:618653] +synonym: "IDDILF" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES" RELATED [] xref: GARD:18520 {source="MONDO:GARD"} xref: MEDGEN:1684804 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618653 {source="MONDO:equivalentTo"} @@ -509614,10 +509708,10 @@ id: MONDO:0032852 name: myopathy, congenital, with structured cores and z-line abnormalities subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Multiple Structured Core Disease" RELATED [OMIM:618654] -synonym: "MYOCOZ" RELATED ABBREVIATION [OMIM:618654] -synonym: "myopathy, congenital with structured cores and z-line abnormalities" EXACT [OMIM:618654, OMIM:genemap2] -synonym: "MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES" RELATED [OMIM:618654] +synonym: "Multiple Structured Core Disease" RELATED [] +synonym: "MYOCOZ" RELATED ABBREVIATION [] +synonym: "myopathy, congenital with structured cores and z-line abnormalities" EXACT [] +synonym: "MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES" RELATED [] xref: DOID:0081342 {source="MONDO:equivalentTo"} xref: MEDGEN:1684705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618654 {source="MONDO:equivalentTo"} @@ -509632,9 +509726,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032853 name: myopathy, distal, 6, adult-onset, autosomal dominant -synonym: "MPD6" RELATED ABBREVIATION [OMIM:618655] -synonym: "myopathy, distal, 6, adult onset" EXACT [OMIM:618655, OMIM:genemap2] -synonym: "MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT" RELATED [OMIM:618655] +synonym: "MPD6" RELATED ABBREVIATION [] +synonym: "myopathy, distal, 6, adult onset" EXACT [] +synonym: "MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT" RELATED [] xref: MEDGEN:1684760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618655 {source="MONDO:equivalentTo"} xref: UMLS:C5203349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684760"} @@ -509648,8 +509742,8 @@ name: zimmermann-laband syndrome 3 subset: gard_rare {source="GARD:16371", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ZIMMERMANN-LABAND SYNDROME 3" RELATED [OMIM:618658] -synonym: "ZLS3" RELATED ABBREVIATION [OMIM:618658] +synonym: "ZIMMERMANN-LABAND SYNDROME 3" RELATED [] +synonym: "ZLS3" RELATED ABBREVIATION [] xref: GARD:16371 {source="MONDO:GARD"} xref: MEDGEN:1684740 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618658 {source="MONDO:equivalentTo"} @@ -509664,8 +509758,8 @@ id: MONDO:0032855 name: neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies subset: gard_rare {source="GARD:18521", source="MONDO:GARD"} subset: rare -synonym: "NEDDFSA" RELATED ABBREVIATION [OMIM:618659] -synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES" RELATED [OMIM:618659] +synonym: "NEDDFSA" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES" RELATED [] xref: GARD:18521 {source="MONDO:GARD"} xref: MEDGEN:1684792 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618659 {source="MONDO:equivalentTo"} @@ -509679,9 +509773,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032857 name: diarrhea 11, malabsorptive, congenital -synonym: "DIAR11" RELATED ABBREVIATION [OMIM:618662] -synonym: "DIARRHEA 11, MALABSORPTIVE, CONGENITAL" RELATED [OMIM:618662] -synonym: "Intractable Diarrhea of Infancy Syndrome" RELATED [OMIM:618662] +synonym: "DIAR11" RELATED ABBREVIATION [] +synonym: "DIARRHEA 11, MALABSORPTIVE, CONGENITAL" RELATED [] +synonym: "Intractable Diarrhea of Infancy Syndrome" RELATED [] synonym: "Intractable Diarrhoea of Infancy Syndrome" RELATED OMO:0003005 [] xref: MEDGEN:1684754 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618662 {source="MONDO:equivalentTo"} @@ -509697,9 +509791,9 @@ name: developmental and epileptic encephalopathy, 81 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE81" EXACT ABBREVIATION [OMIM:618663] -synonym: "developmental and epileptic encephalopathy 81" EXACT [OMIM:618663, OMIM:genemap2] -synonym: "EIEE81" EXACT ABBREVIATION [OMIM:618663] +synonym: "DEE81" EXACT ABBREVIATION [DOID:0112217, OMIM:618663] +synonym: "developmental and epileptic encephalopathy 81" EXACT [DOID:0112217, OMIM:618663] +synonym: "EIEE81" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81" EXACT [OMIM:618663] synonym: "epileptic encephalopathy, early infantile, 81" EXACT [OMIM:618663] xref: DOID:0112217 {source="MONDO:equivalentTo"} @@ -509716,8 +509810,8 @@ id: MONDO:0032859 name: spermatogenic failure 40 subset: gard_rare {source="GARD:18411", source="MONDO:GARD"} subset: rare -synonym: "SPERMATOGENIC FAILURE 40" RELATED [OMIM:618664] -synonym: "SPGF40" RELATED ABBREVIATION [OMIM:618664] +synonym: "SPERMATOGENIC FAILURE 40" RELATED [] +synonym: "SPGF40" RELATED ABBREVIATION [] xref: DOID:0111918 {source="MONDO:equivalentTo"} xref: GARD:18411 {source="MONDO:GARD"} xref: MEDGEN:1684662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509734,9 +509828,9 @@ name: intellectual developmental disorder, autosomal recessive 72 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72" RELATED [OMIM:618665] -synonym: "Mental Retardation, Autosomal Recessive 72" RELATED [OMIM:618665] -synonym: "MRT72" RELATED ABBREVIATION [OMIM:618665] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72" RELATED [] +synonym: "Mental Retardation, Autosomal Recessive 72" RELATED [] +synonym: "MRT72" RELATED ABBREVIATION [] xref: DOID:0080765 {source="MONDO:equivalentTo"} xref: MEDGEN:1684805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618665 {source="MONDO:equivalentTo"} @@ -509750,8 +509844,8 @@ id: MONDO:0032862 name: hydrocephalus, congenital communicating, 1 subset: gard_rare {source="GARD:18090", source="MONDO:GARD"} subset: rare -synonym: "HYDCC1" RELATED ABBREVIATION [OMIM:618667] -synonym: "HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1" RELATED [OMIM:618667] +synonym: "HYDCC1" RELATED ABBREVIATION [] +synonym: "HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1" RELATED [] xref: GARD:18090 {source="MONDO:GARD"} xref: MEDGEN:1684770 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618667 {source="MONDO:equivalentTo"} @@ -509767,8 +509861,8 @@ id: MONDO:0032863 name: spermatogenic failure 41 subset: gard_rare {source="GARD:18412", source="MONDO:GARD"} subset: rare -synonym: "SPERMATOGENIC FAILURE 41" RELATED [OMIM:618670] -synonym: "SPGF41" RELATED ABBREVIATION [OMIM:618670] +synonym: "SPERMATOGENIC FAILURE 41" RELATED [] +synonym: "SPGF41" RELATED ABBREVIATION [] xref: DOID:0111912 {source="MONDO:equivalentTo"} xref: GARD:18412 {source="MONDO:GARD"} xref: MEDGEN:1684739 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509781,8 +509875,8 @@ is_a: MONDO:0004983 {source="DOID:0111912", source="OMIM:618670"} ! spermatogeni [Term] id: MONDO:0032864 name: intellectual developmental disorder with speech delay, autism, and dysmorphic facies -synonym: "IDDSADF" RELATED ABBREVIATION [OMIM:618672] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES" RELATED [OMIM:618672] +synonym: "IDDSADF" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES" RELATED [] xref: MEDGEN:1684848 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618672 {source="MONDO:equivalentTo"} xref: UMLS:C5231456 {source="MEDGEN:1684848", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509795,8 +509889,8 @@ name: pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PFBMFT5" RELATED ABBREVIATION [OMIM:618674] -synonym: "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5" RELATED [OMIM:618674] +synonym: "PFBMFT5" RELATED ABBREVIATION [] +synonym: "PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5" RELATED [] synonym: "ZCCHC8-related telomere biology disorder" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40138/] xref: MEDGEN:1684878 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618674 {source="MONDO:equivalentTo"} @@ -509807,8 +509901,8 @@ is_a: MONDO:0003847 {source="OMIM:618674"} ! hereditary disease [Term] id: MONDO:0032866 name: cortical dysplasia, complex, with other brain malformations 10 -synonym: "CDCBM10" RELATED ABBREVIATION [OMIM:618677] -synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10" RELATED [OMIM:618677] +synonym: "CDCBM10" RELATED ABBREVIATION [] +synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10" RELATED [] xref: MEDGEN:1684859 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618677 {source="MONDO:equivalentTo"} xref: UMLS:C5231458 {source="MEDGEN:1684859", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509821,8 +509915,8 @@ id: MONDO:0032867 name: pancreatic cancer, susceptibility to, 5 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "PANCREATIC CANCER, SUSCEPTIBILITY TO, 5" RELATED [OMIM:618680] -synonym: "PNCA5" RELATED ABBREVIATION [OMIM:618680] +synonym: "PANCREATIC CANCER, SUSCEPTIBILITY TO, 5" RELATED [] +synonym: "PNCA5" RELATED ABBREVIATION [] xref: MEDGEN:1684838 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618680 {source="MONDO:equivalentTo"} xref: UMLS:C5231459 {source="MEDGEN:1684838", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509833,8 +509927,8 @@ relationship: predisposes_towards MONDO:0009831 {source="OMIM:618680"} ! maligna [Term] id: MONDO:0032868 name: lessel-kubisch syndrome -synonym: "LESSEL-KUBISCH SYNDROME" RELATED [OMIM:618681] -synonym: "LSKB" RELATED ABBREVIATION [OMIM:618681] +synonym: "LESSEL-KUBISCH SYNDROME" RELATED [] +synonym: "LSKB" RELATED ABBREVIATION [] xref: MEDGEN:1684750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618681 {source="MONDO:equivalentTo"} xref: UMLS:C5231460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684750"} @@ -509845,8 +509939,8 @@ id: MONDO:0032869 name: mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 subset: gard_rare {source="GARD:18673", source="MONDO:GARD"} subset: rare -synonym: "MC5DN6" RELATED ABBREVIATION [OMIM:618683] -synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6" RELATED [OMIM:618683] +synonym: "MC5DN6" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6" RELATED [] xref: DOID:0111749 {source="MONDO:equivalentTo"} xref: GARD:18673 {source="MONDO:GARD"} xref: MEDGEN:1684729 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509862,8 +509956,8 @@ id: MONDO:0032870 name: intellectual developmental disorder with short stature and behavioral abnormalities subset: gard_rare {source="GARD:22581", source="MONDO:GARD"} subset: rare -synonym: "IDDSSBA" RELATED ABBREVIATION [OMIM:618687] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES" RELATED [OMIM:618687] +synonym: "IDDSSBA" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES" RELATED [] xref: DOID:0111674 {source="MONDO:equivalentTo"} xref: GARD:22581 {source="MONDO:GARD"} xref: MEDGEN:1684812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509879,8 +509973,8 @@ name: leukodystrophy, hypomyelinating, 19, transient infantile subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HLD19" RELATED ABBREVIATION [OMIM:618688] -synonym: "LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE" RELATED [OMIM:618688] +synonym: "HLD19" RELATED ABBREVIATION [] +synonym: "LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE" RELATED [] xref: DOID:0070400 {source="MONDO:equivalentTo"} xref: MEDGEN:1684698 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618688 {source="MONDO:equivalentTo"} @@ -509896,9 +509990,9 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:16373", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CILD42" RELATED ABBREVIATION [OMIM:618695] -synonym: "CILIARY DYSKINESIA, PRIMARY, 42" RELATED [OMIM:618695] -synonym: "Ciliary Dyskinesia, Primary, 42, Without Situs Inversus" RELATED [OMIM:618695] +synonym: "CILD42" RELATED ABBREVIATION [] +synonym: "CILIARY DYSKINESIA, PRIMARY, 42" RELATED [] +synonym: "Ciliary Dyskinesia, Primary, 42, Without Situs Inversus" RELATED [] xref: DOID:0111855 {source="MONDO:equivalentTo"} xref: GARD:16373 {source="MONDO:GARD"} xref: MEDGEN:1684665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509916,8 +510010,8 @@ name: retinitis pigmentosa 87 with choroidal involvement subset: gard_rare {source="GARD:16374", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT" RELATED [OMIM:618697] -synonym: "RP87" RELATED ABBREVIATION [OMIM:618697] +synonym: "RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT" RELATED [] +synonym: "RP87" RELATED ABBREVIATION [] xref: GARD:16374 {source="MONDO:GARD"} xref: MEDGEN:1684667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618697 {source="MONDO:equivalentTo"} @@ -509937,9 +510031,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CILD43" RELATED ABBREVIATION [OMIM:618699] -synonym: "CILIARY DYSKINESIA, PRIMARY, 43" RELATED [OMIM:618699] -synonym: "Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus" RELATED [OMIM:618699] +synonym: "CILD43" RELATED ABBREVIATION [] +synonym: "CILIARY DYSKINESIA, PRIMARY, 43" RELATED [] +synonym: "Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus" RELATED [] xref: DOID:0111856 {source="MONDO:equivalentTo"} xref: MEDGEN:1684675 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618699 {source="MONDO:equivalentTo"} @@ -509952,8 +510046,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032875 name: short stature and microcephaly with genital anomalies -synonym: "SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES" RELATED [OMIM:618702] -synonym: "SSMGA" RELATED ABBREVIATION [OMIM:618702] +synonym: "SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES" RELATED [] +synonym: "SSMGA" RELATED ABBREVIATION [] xref: MEDGEN:1684791 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618702 {source="MONDO:equivalentTo"} xref: UMLS:C5231467 {source="MEDGEN:1684791", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509962,9 +510056,9 @@ is_a: MONDO:0003847 {source="OMIM:618702"} ! hereditary disease [Term] id: MONDO:0032876 name: neurodevelopmental disorder with absent language and variable seizures -synonym: "Ito-Raymond Syndrome" RELATED [OMIM:618707] -synonym: "NEDALVS" RELATED ABBREVIATION [OMIM:618707] -synonym: "NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES" RELATED [OMIM:618707] +synonym: "Ito-Raymond Syndrome" RELATED [] +synonym: "NEDALVS" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES" RELATED [] xref: MEDGEN:1684803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618707 {source="MONDO:equivalentTo"} xref: UMLS:C5231469 {source="MEDGEN:1684803", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509976,9 +510070,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032877 name: neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures -synonym: "NEDBAS" RELATED ABBREVIATION [OMIM:618709] -synonym: "NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES" RELATED [OMIM:618709] -synonym: "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures" EXACT CLINGEN_LABEL [] +synonym: "NEDBAS" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES" RELATED [] +synonym: "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures" EXACT CLINGEN_LABEL [OMIM:618709] xref: MEDGEN:1684757 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618709 {source="MONDO:equivalentTo"} xref: UMLS:C5231470 {source="MEDGEN:1684757", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -509990,8 +510084,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032878 name: neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia -synonym: "NEDBASH" RELATED ABBREVIATION [OMIM:618718] -synonym: "NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA" RELATED [OMIM:618718] +synonym: "NEDBASH" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA" RELATED [] xref: MEDGEN:1684663 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618718 {source="MONDO:equivalentTo"} xref: UMLS:C5231471 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684663"} @@ -510003,8 +510097,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0032879 name: megabladder, congenital -synonym: "MEGABLADDER, CONGENITAL" RELATED [OMIM:618719] -synonym: "MGBL" RELATED ABBREVIATION [OMIM:618719] +synonym: "MEGABLADDER, CONGENITAL" RELATED [] +synonym: "MGBL" RELATED ABBREVIATION [] xref: DOID:0112014 {source="MONDO:equivalentTo"} xref: MEDGEN:1684806 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618719 {source="MONDO:equivalentTo"} @@ -510018,13 +510112,13 @@ name: developmental and epileptic encephalopathy, 82 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE82" EXACT ABBREVIATION [OMIM:618721] -synonym: "developmental and epileptic encephalopathy 82" EXACT [OMIM:618721, OMIM:genemap2] -synonym: "EIEE82" EXACT ABBREVIATION [OMIM:618721] +synonym: "DEE82" EXACT ABBREVIATION [DOID:0080715, OMIM:618721] +synonym: "developmental and epileptic encephalopathy 82" EXACT [DOID:0080715, OMIM:618721] +synonym: "EIEE82" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82" EXACT [OMIM:618721] synonym: "epileptic encephalopathy, early infantile, 82" EXACT [OMIM:618721] -synonym: "Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of" RELATED [OMIM:618721] -synonym: "Got2 Deficiency" RELATED [OMIM:618721] +synonym: "Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of" RELATED [] +synonym: "Got2 Deficiency" RELATED [] xref: DOID:0080715 {source="MONDO:equivalentTo"} xref: MEDGEN:1684694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618721 {source="MONDO:equivalentTo"} @@ -510040,8 +510134,8 @@ name: premature ovarian failure 16 subset: gard_rare {source="GARD:18044", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "POF16" RELATED ABBREVIATION [OMIM:618723] -synonym: "PREMATURE OVARIAN FAILURE 16" RELATED [OMIM:618723] +synonym: "POF16" RELATED ABBREVIATION [] +synonym: "PREMATURE OVARIAN FAILURE 16" RELATED [] xref: DOID:0080873 {source="MONDO:equivalentTo"} xref: GARD:18044 {source="MONDO:GARD"} xref: MEDGEN:1684679 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510060,9 +510154,9 @@ subset: ordo_disorder {source="Orphanet:658595"} subset: orphanet_rare {source="Orphanet:658595"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HESJAS" RELATED ABBREVIATION [OMIM:618724] -synonym: "HEYN-SPROUL-JACKSON SYNDROME" RELATED [OMIM:618724] -synonym: "Microcephaly, Short Stature, and Impaired Intellectual Development" RELATED [OMIM:618724] +synonym: "HESJAS" RELATED ABBREVIATION [] +synonym: "HEYN-SPROUL-JACKSON SYNDROME" RELATED [] +synonym: "Microcephaly, Short Stature, and Impaired Intellectual Development" RELATED [] xref: MEDGEN:1684743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618724 {source="MONDO:equivalentTo"} xref: Orphanet:658595 {source="MONDO:equivalentTo"} @@ -510074,8 +510168,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0032883 name: intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures -synonym: "IDDBCS" RELATED ABBREVIATION [OMIM:618725] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES" RELATED [OMIM:618725] +synonym: "IDDBCS" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES" RELATED [] xref: MEDGEN:1684850 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618725 {source="MONDO:equivalentTo"} xref: UMLS:C5231476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684850"} @@ -510086,9 +510180,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032884 name: ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies subset: otar {source="MONDO:OTAR"} -synonym: "ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES" RELATED [OMIM:618727] -synonym: "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic" EXACT [OMIM:618727, OMIM:genemap2] -synonym: "EDFAOB" RELATED ABBREVIATION [OMIM:618727] +synonym: "ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES" RELATED [] +synonym: "ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic" EXACT [] +synonym: "EDFAOB" RELATED ABBREVIATION [] xref: MEDGEN:1684719 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618727 {source="MONDO:equivalentTo"} xref: UMLS:C5231477 {source="MEDGEN:1684719", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510102,8 +510196,8 @@ name: spondyloepimetaphyseal dysplasia, Isidor-Toutain type subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SEMDIST" RELATED ABBREVIATION [OMIM:618728] -synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE" RELATED [OMIM:618728] +synonym: "SEMDIST" RELATED ABBREVIATION [] +synonym: "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE" RELATED [] xref: MEDGEN:1684771 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618728 {source="MONDO:equivalentTo"} xref: UMLS:C5231478 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684771"} @@ -510118,8 +510212,8 @@ subset: ordo_disorder {source="Orphanet:664438"} subset: orphanet_rare {source="Orphanet:664438"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LIANG-WANG SYNDROME" RELATED [OMIM:618729] -synonym: "LIWAS" RELATED ABBREVIATION [OMIM:618729] +synonym: "LIANG-WANG SYNDROME" RELATED [] +synonym: "LIWAS" RELATED ABBREVIATION [] xref: MEDGEN:1684847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618729 {source="MONDO:equivalentTo"} xref: Orphanet:664438 {source="MONDO:equivalentTo"} @@ -510131,9 +510225,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032887 name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity subset: otar {source="MONDO:OTAR"} -synonym: "NEDMCMS" RELATED ABBREVIATION [OMIM:618730] -synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY" RELATED [OMIM:618730] -synonym: "Vandervore-Schot Syndrome" RELATED [OMIM:618730] +synonym: "NEDMCMS" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY" RELATED [] +synonym: "Vandervore-Schot Syndrome" RELATED [] xref: MEDGEN:1684695 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618730 {source="MONDO:equivalentTo"} xref: UMLS:C5231480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684695"} @@ -510146,8 +510240,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0032888 name: neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies subset: otar {source="MONDO:OTAR"} -synonym: "NEDBAVC" RELATED ABBREVIATION [OMIM:618731] -synonym: "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES" RELATED [OMIM:618731] +synonym: "NEDBAVC" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES" RELATED [] xref: MEDGEN:1684772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618731 {source="MONDO:equivalentTo"} xref: UMLS:C5231481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684772"} @@ -510161,8 +510255,8 @@ id: MONDO:0032889 name: Poirier-Bienvenu neurodevelopmental syndrome subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "POBINDS" RELATED ABBREVIATION [OMIM:618732] -synonym: "POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME" RELATED [OMIM:618732] +synonym: "POBINDS" RELATED ABBREVIATION [] +synonym: "POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME" RELATED [] xref: MEDGEN:1684718 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618732 {source="MONDO:equivalentTo"} xref: UMLS:C5231482 {source="MONDO:equivalentTo", source="MEDGEN:1684718", source="MONDO:MEDGEN"} @@ -510176,8 +510270,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0032890 name: neuromuscular disease and ocular or auditory anomalies with or without seizures subset: otar {source="MONDO:OTAR"} -synonym: "NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES" RELATED [OMIM:618733] -synonym: "NMOAS" RELATED ABBREVIATION [OMIM:618733] +synonym: "NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES" RELATED [] +synonym: "NMOAS" RELATED ABBREVIATION [] xref: MEDGEN:1684689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618733 {source="MONDO:equivalentTo"} xref: UMLS:C5231483 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684689"} @@ -510191,8 +510285,8 @@ subset: gard_rare {source="GARD:18330", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ANEURYSM, INTRACRANIAL BERRY, 12" RELATED [OMIM:618734] -synonym: "ANIB12" RELATED ABBREVIATION [OMIM:618734] +synonym: "ANEURYSM, INTRACRANIAL BERRY, 12" RELATED [] +synonym: "ANIB12" RELATED ABBREVIATION [] xref: DOID:0080975 {source="MONDO:equivalentTo"} xref: GARD:18330 {source="MONDO:GARD"} xref: MEDGEN:1684660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510205,8 +510299,8 @@ is_a: MONDO:0016483 {source="DOID:0080975", source="OMIM:618734"} ! intracranial id: MONDO:0032892 name: structural brain anomalies with impaired intellectual development and craniosynostosis subset: otar {source="MONDO:OTAR"} -synonym: "BAIDCS" RELATED ABBREVIATION [OMIM:618736] -synonym: "STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS" RELATED [OMIM:618736] +synonym: "BAIDCS" RELATED ABBREVIATION [] +synonym: "STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS" RELATED [] xref: MEDGEN:1684861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618736 {source="MONDO:equivalentTo"} xref: UMLS:C5231485 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684861"} @@ -510217,8 +510311,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032893 name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures subset: otar {source="MONDO:OTAR"} -synonym: "PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES" RELATED [OMIM:618737] -synonym: "PAMDDFS" RELATED ABBREVIATION [OMIM:618737] +synonym: "PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES" RELATED [] +synonym: "PAMDDFS" RELATED ABBREVIATION [] xref: DOID:0081266 {source="MONDO:equivalentTo"} xref: MEDGEN:1684879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618737 {source="MONDO:equivalentTo"} @@ -510230,8 +510324,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032894 name: neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy subset: otar {source="MONDO:OTAR"} -synonym: "NEDESBA" RELATED ABBREVIATION [OMIM:618741] -synonym: "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY" RELATED [OMIM:618741] +synonym: "NEDESBA" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY" RELATED [] xref: MEDGEN:1717952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618741 {source="MONDO:equivalentTo"} xref: UMLS:C5394027 {source="MEDGEN:1717952", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510247,10 +510341,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Barakat-Perenthaler Syndrome" RELATED [OMIM:618744] -synonym: "DEE83" EXACT ABBREVIATION [OMIM:618744] -synonym: "developmental and epileptic encephalopathy 83" EXACT [OMIM:618744, OMIM:genemap2] -synonym: "EIEE83" EXACT ABBREVIATION [OMIM:618744] +synonym: "Barakat-Perenthaler Syndrome" RELATED [] +synonym: "DEE83" EXACT ABBREVIATION [DOID:0112218, OMIM:618744] +synonym: "developmental and epileptic encephalopathy 83" EXACT [DOID:0112218, OMIM:618744] +synonym: "EIEE83" EXACT ABBREVIATION [] synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83" EXACT [OMIM:618744] synonym: "epileptic encephalopathy, early infantile, 83" EXACT [OMIM:618744] xref: DOID:0112218 {source="MONDO:equivalentTo"} @@ -510268,8 +510362,8 @@ name: spermatogenic failure 42 subset: gard_rare {source="GARD:18413", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SPERMATOGENIC FAILURE 42" RELATED [OMIM:618745] -synonym: "SPGF42" RELATED ABBREVIATION [OMIM:618745] +synonym: "SPERMATOGENIC FAILURE 42" RELATED [] +synonym: "SPGF42" RELATED ABBREVIATION [] xref: DOID:0111923 {source="MONDO:equivalentTo"} xref: GARD:18413 {source="MONDO:GARD"} xref: MEDGEN:1684744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510283,8 +510377,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032897 name: intellectual developmental disorder with hypotonia and behavioral abnormalities subset: otar {source="MONDO:OTAR"} -synonym: "IDDHBA" RELATED ABBREVIATION [OMIM:618748] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES" RELATED [OMIM:618748] +synonym: "IDDHBA" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES" RELATED [] xref: MEDGEN:1684709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618748 {source="MONDO:equivalentTo"} xref: UMLS:C5231489 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684709"} @@ -510297,8 +510391,8 @@ name: spermatogenic failure 43 subset: gard_rare {source="GARD:18414", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SPERMATOGENIC FAILURE 43" RELATED [OMIM:618751] -synonym: "SPGF43" RELATED ABBREVIATION [OMIM:618751] +synonym: "SPERMATOGENIC FAILURE 43" RELATED [] +synonym: "SPGF43" RELATED ABBREVIATION [] xref: DOID:0111917 {source="MONDO:equivalentTo"} xref: GARD:18414 {source="MONDO:GARD"} xref: MEDGEN:1684830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510317,10 +510411,10 @@ subset: ordo_disorder {source="Orphanet:675767"} subset: orphanet_rare {source="Orphanet:675767"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT" RELATED [OMIM:618752] -synonym: "Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities" RELATED [OMIM:618752] -synonym: "SCN8" RELATED ABBREVIATION [OMIM:618752] -synonym: "Shwachman-Diamond Syndrome-Like" RELATED [OMIM:618752] +synonym: "NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT" RELATED [] +synonym: "Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities" RELATED [] +synonym: "SCN8" RELATED ABBREVIATION [] +synonym: "Shwachman-Diamond Syndrome-Like" RELATED [] xref: DOID:0112135 {source="MONDO:equivalentTo"} xref: GARD:16375 {source="MONDO:GARD"} xref: MEDGEN:1684816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510335,8 +510429,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032900 name: neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements subset: otar {source="MONDO:OTAR"} -synonym: "NEDHAHM" RELATED ABBREVIATION [OMIM:618760] -synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS" RELATED [OMIM:618760] +synonym: "NEDHAHM" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS" RELATED [] xref: MEDGEN:1684874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618760 {source="MONDO:equivalentTo"} xref: UMLS:C5231491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684874"} @@ -510349,9 +510443,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0032901 name: Catifa syndrome subset: otar {source="MONDO:OTAR"} -synonym: "CATIFA" RELATED ABBREVIATION [OMIM:618761] -synonym: "CATIFA SYNDROME" RELATED [OMIM:618761] -synonym: "Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder" RELATED [OMIM:618761] +synonym: "CATIFA" RELATED ABBREVIATION [] +synonym: "CATIFA SYNDROME" RELATED [] +synonym: "Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder" RELATED [] xref: MEDGEN:1684686 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618761 {source="MONDO:equivalentTo"} xref: UMLS:C5231492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1684686"} @@ -510365,8 +510459,8 @@ subset: gard_rare {source="GARD:16376", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "JBTS36" RELATED ABBREVIATION [OMIM:618763] -synonym: "JOUBERT SYNDROME 36" RELATED [OMIM:618763] +synonym: "JBTS36" RELATED ABBREVIATION [] +synonym: "JOUBERT SYNDROME 36" RELATED [] xref: GARD:16376 {source="MONDO:GARD"} xref: MEDGEN:1684786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618763 {source="MONDO:equivalentTo"} @@ -510382,9 +510476,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AMCNACC" EXACT ABBREVIATION [OMIM:618766] +synonym: "AMCNACC" EXACT ABBREVIATION [] synonym: "arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum" EXACT [OMIM:618766] -synonym: "Zain Syndrome" RELATED [OMIM:618766] +synonym: "Zain Syndrome" RELATED [] xref: DOID:0080980 {source="MONDO:equivalentTo"} xref: MEDGEN:1684706 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618766 {source="MONDO:equivalentTo"} @@ -510402,9 +510496,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CORNEAL DYSTROPHY, MEESMANN, 2" RELATED [OMIM:618767] -synonym: "MECD2" RELATED ABBREVIATION [OMIM:618767] -synonym: "meesmann corneal dystrophy 2" EXACT [OMIM:618767, OMIM:genemap2] +synonym: "CORNEAL DYSTROPHY, MEESMANN, 2" RELATED [] +synonym: "MECD2" RELATED ABBREVIATION [] +synonym: "meesmann corneal dystrophy 2" EXACT [DOID:0080671] xref: DOID:0080671 {source="MONDO:equivalentTo"} xref: MEDGEN:1684798 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618767 {source="MONDO:equivalentTo"} @@ -510421,8 +510515,8 @@ name: spastic paraplegia 81, autosomal recessive subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE" RELATED [OMIM:618768] -synonym: "SPG81" RELATED ABBREVIATION [OMIM:618768] +synonym: "SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE" RELATED [] +synonym: "SPG81" RELATED ABBREVIATION [] xref: MEDGEN:1711668 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618768 {source="MONDO:equivalentTo"} xref: UMLS:C5394033 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711668"} @@ -510439,9 +510533,9 @@ subset: ordo_disorder {source="Orphanet:631073"} subset: orphanet_rare {source="Orphanet:631073"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive spastic paraplegia type 82" EXACT [MONDO:0858987] +synonym: "autosomal recessive spastic paraplegia type 82" EXACT [MONDO:0858987, Orphanet:631073] synonym: "spastic paraplegia 82, autosomal recessive" EXACT [OMIM:618770] -synonym: "SPG82" EXACT ABBREVIATION [OMIM:618770] +synonym: "SPG82" EXACT ABBREVIATION [DOID:0112343, OMIM:618770] xref: DOID:0112343 {source="MONDO:equivalentTo"} xref: MEDGEN:1710411 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618770 {source="MONDO:equivalentTo"} @@ -510460,8 +510554,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LMPHM8" RELATED ABBREVIATION [OMIM:618773] -synonym: "LYMPHATIC MALFORMATION 8" RELATED [OMIM:618773] +synonym: "LMPHM8" RELATED ABBREVIATION [] +synonym: "LYMPHATIC MALFORMATION 8" RELATED [] xref: MEDGEN:1684767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618773 {source="MONDO:equivalentTo"} xref: UMLS:C5231496 {source="MEDGEN:1684767", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510472,12 +510566,12 @@ is_a: MONDO:0019313 {source="OMIM:618773"} ! lymphatic malformation id: MONDO:0032908 name: CEBALID syndrome subset: otar {source="MONDO:OTAR"} -synonym: "CEBALID" RELATED ABBREVIATION [OMIM:618774] -synonym: "CEBALID SYNDROME" RELATED [OMIM:618774] -synonym: "Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development" RELATED [OMIM:618774] +synonym: "CEBALID" RELATED ABBREVIATION [] +synonym: "CEBALID SYNDROME" RELATED [] +synonym: "Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development" RELATED [] synonym: "MCTT" EXACT ABBREVIATION [https://rarediseases.org/rare-diseases/mn1-c-terminal-truncation-syndrome/] -synonym: "MN1 C-Terminal Truncation Syndrome" EXACT [] -synonym: "MN1 C-terminal truncation syndrome" EXACT [https://rarediseases.org/rare-diseases/mn1-c-terminal-truncation-syndrome/] +synonym: "MN1 C-Terminal Truncation Syndrome" EXACT [OMIM:618774] +synonym: "MN1 C-terminal truncation syndrome" EXACT [https://rarediseases.org/rare-diseases/mn1-c-terminal-truncation-syndrome/, OMIM:618774] xref: MEDGEN:1710973 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618774 {source="MONDO:equivalentTo"} xref: UMLS:C5394044 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710973"} @@ -510490,8 +510584,8 @@ name: mitochondrial complex 3 deficiency, nuclear type 10 subset: gard_rare {source="GARD:16377", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC3DN10" RELATED ABBREVIATION [OMIM:618775] -synonym: "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10" RELATED [OMIM:618775] +synonym: "MC3DN10" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10" RELATED [] xref: GARD:16377 {source="MONDO:GARD"} xref: MEDGEN:1719382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618775 {source="MONDO:equivalentTo"} @@ -510506,8 +510600,8 @@ name: mitochondrial complex 1 deficiency, nuclear type 34 subset: gard_rare {source="GARD:16378", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC1DN34" RELATED ABBREVIATION [OMIM:618776] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34" RELATED [OMIM:618776] +synonym: "MC1DN34" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34" RELATED [] xref: DOID:0112091 {source="MONDO:equivalentTo"} xref: GARD:16378 {source="MONDO:GARD"} xref: MEDGEN:1720533 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510526,9 +510620,9 @@ subset: gard_rare {source="GARD:18153", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEAFNESS, AUTOSOMAL DOMINANT 75" NARROW [OMIM:618778] -synonym: "deafness, autosomal dominant 75" NARROW [OMIM:618778, OMIM:genemap2] -synonym: "DFNA75" NARROW ABBREVIATION [OMIM:618778] +synonym: "DEAFNESS, AUTOSOMAL DOMINANT 75" NARROW [] +synonym: "deafness, autosomal dominant 75" NARROW [] +synonym: "DFNA75" NARROW ABBREVIATION [] xref: DOID:0112166 {source="MONDO:equivalentTo"} xref: GARD:18153 {source="MONDO:GARD"} xref: MEDGEN:1713569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510546,8 +510640,8 @@ subset: gard_rare {source="GARD:16379", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COFFIN-SIRIS SYNDROME 11" RELATED [OMIM:618779] -synonym: "CSS11" RELATED ABBREVIATION [OMIM:618779] +synonym: "COFFIN-SIRIS SYNDROME 11" RELATED [] +synonym: "CSS11" RELATED ABBREVIATION [] xref: DOID:0112372 {source="MONDO:equivalentTo"} xref: GARD:16379 {source="MONDO:GARD"} xref: MEDGEN:1717402 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510562,8 +510656,8 @@ id: MONDO:0032913 name: congenital heart defects, multiple types, 7 subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "CHTD7" RELATED ABBREVIATION [OMIM:618780] -synonym: "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7" RELATED [OMIM:618780] +synonym: "CHTD7" RELATED ABBREVIATION [] +synonym: "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7" RELATED [] xref: MEDGEN:1714491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618780 {source="MONDO:equivalentTo"} xref: UMLS:C5394062 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1714491"} @@ -510580,9 +510674,9 @@ subset: gard_rare {source="GARD:16380", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CILD44" RELATED ABBREVIATION [OMIM:618781] -synonym: "CILIARY DYSKINESIA, PRIMARY, 44" RELATED [OMIM:618781] -synonym: "Ciliary Dyskinesia, Primary, 44, Without Situs Inversus" RELATED [OMIM:618781] +synonym: "CILD44" RELATED ABBREVIATION [] +synonym: "CILIARY DYSKINESIA, PRIMARY, 44" RELATED [] +synonym: "Ciliary Dyskinesia, Primary, 44, Without Situs Inversus" RELATED [] xref: DOID:0111851 {source="MONDO:equivalentTo"} xref: GARD:16380 {source="MONDO:GARD"} xref: MEDGEN:1716408 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510598,9 +510692,9 @@ name: long QT syndrome 16 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "long QT syndrome 16" EXACT CLINGEN_LABEL [OMIM:618782] -synonym: "LQT16" RELATED ABBREVIATION [OMIM:618782] -synonym: "Ventricular Tachycardia, Catecholaminergic Polymorphic 6" RELATED [OMIM:618782] +synonym: "long QT syndrome 16" EXACT CLINGEN_LABEL [DOID:0070533, OMIM:618782] +synonym: "LQT16" RELATED ABBREVIATION [] +synonym: "Ventricular Tachycardia, Catecholaminergic Polymorphic 6" RELATED [] xref: DOID:0070533 {source="MONDO:equivalentTo"} xref: MEDGEN:1713991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618782 {source="MONDO:equivalentTo"} @@ -510617,8 +510711,8 @@ subset: ordo_disorder {source="Orphanet:659463"} subset: orphanet_rare {source="Orphanet:659463"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMAGAWA-MATSUMOTO SYNDROME" RELATED [OMIM:618786] -synonym: "IMMAS" RELATED ABBREVIATION [OMIM:618786] +synonym: "IMAGAWA-MATSUMOTO SYNDROME" RELATED [] +synonym: "IMMAS" RELATED ABBREVIATION [] xref: GARD:16381 {source="MONDO:GARD"} xref: MEDGEN:1711007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618786 {source="MONDO:equivalentTo"} @@ -510634,9 +510728,9 @@ subset: gard_rare {source="GARD:18154", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEAFNESS, AUTOSOMAL DOMINANT 76" NARROW [OMIM:618787] -synonym: "deafness, autosomal dominant 76" NARROW [OMIM:618787, OMIM:genemap2] -synonym: "DFNA76" NARROW ABBREVIATION [OMIM:618787] +synonym: "DEAFNESS, AUTOSOMAL DOMINANT 76" NARROW [] +synonym: "deafness, autosomal dominant 76" NARROW [] +synonym: "DFNA76" NARROW ABBREVIATION [] xref: DOID:0112167 {source="MONDO:equivalentTo"} xref: GARD:18154 {source="MONDO:GARD"} xref: MEDGEN:1710038 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510655,12 +510749,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:102487"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE84" EXACT ABBREVIATION [OMIM:618792] -synonym: "developmental and epileptic encephalopathy 84" EXACT [OMIM:618792, OMIM:genemap2] -synonym: "EIEE84" EXACT ABBREVIATION [OMIM:618792] -synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84" EXACT [OMIM:618792] -synonym: "epileptic encephalopathy, early infantile, 84" EXACT [OMIM:618792] -synonym: "Jamuar Syndrome" RELATED [OMIM:618792] +synonym: "DEE84" EXACT ABBREVIATION [DOID:0112219, OMIM:618792] +synonym: "developmental and epileptic encephalopathy 84" EXACT [DOID:0112219, OMIM:618792] +synonym: "EIEE84" EXACT ABBREVIATION [] +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84" EXACT [] +synonym: "epileptic encephalopathy, early infantile, 84" EXACT [] +synonym: "Jamuar Syndrome" RELATED [] synonym: "UGDH-Related Disorder" EXACT [NORD:102487] xref: DOID:0112219 {source="MONDO:equivalentTo"} xref: MEDGEN:1720141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510679,9 +510773,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 62" RELATED [OMIM:618793] -synonym: "Mental Retardation, Autosomal Dominant 62" RELATED [OMIM:618793] -synonym: "MRD62" RELATED ABBREVIATION [OMIM:618793] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER 62" RELATED [] +synonym: "Mental Retardation, Autosomal Dominant 62" RELATED [] +synonym: "MRD62" RELATED ABBREVIATION [] xref: MEDGEN:1712636 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618793 {source="MONDO:equivalentTo"} xref: UMLS:C5394083 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712636"} @@ -510695,8 +510789,8 @@ name: juvenile arthritis due to defect in LACC1 subset: gard_rare {source="GARD:16382", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "JUVAR" RELATED ABBREVIATION [OMIM:618795] -synonym: "JUVENILE ARTHRITIS" RELATED [OMIM:618795] +synonym: "JUVAR" RELATED ABBREVIATION [] +synonym: "JUVENILE ARTHRITIS" RELATED [] xref: GARD:16382 {source="MONDO:GARD"} xref: OMIM:618795 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="OMIM:618795"} ! hereditary disease @@ -510706,8 +510800,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032921 name: neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation subset: otar {source="MONDO:OTAR"} -synonym: "NEDHRIT" RELATED ABBREVIATION [OMIM:618797] -synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION" RELATED [OMIM:618797] +synonym: "NEDHRIT" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION" RELATED [] xref: MEDGEN:1716098 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618797 {source="MONDO:equivalentTo"} xref: UMLS:C5394091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716098"} @@ -510720,8 +510814,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0032922 name: Beck-Fahrner syndrome subset: otar {source="MONDO:OTAR"} -synonym: "BECK-FAHRNER SYNDROME" RELATED [OMIM:618798] -synonym: "BEFAHRS" RELATED ABBREVIATION [OMIM:618798] +synonym: "BECK-FAHRNER SYNDROME" RELATED [] +synonym: "BEFAHRS" RELATED ABBREVIATION [] xref: MEDGEN:1711894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618798 {source="MONDO:equivalentTo"} xref: UMLS:C5394097 {source="MONDO:equivalentTo", source="MEDGEN:1711894", source="MONDO:MEDGEN"} @@ -510735,8 +510829,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCAR28" RELATED ABBREVIATION [OMIM:618800] -synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28" RELATED [OMIM:618800] +synonym: "SCAR28" RELATED ABBREVIATION [] +synonym: "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28" RELATED [] xref: DOID:0070409 {source="MONDO:equivalentTo"} xref: MEDGEN:1712568 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618800 {source="MONDO:equivalentTo"} @@ -510752,9 +510846,9 @@ subset: gard_rare {source="GARD:16383", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CILD45" RELATED ABBREVIATION [OMIM:618801] -synonym: "CILIARY DYSKINESIA, PRIMARY, 45" RELATED [OMIM:618801] -synonym: "Ciliary Dyskinesia, Primary, 45, Without Situs Inversus" RELATED [OMIM:618801] +synonym: "CILD45" RELATED ABBREVIATION [] +synonym: "CILIARY DYSKINESIA, PRIMARY, 45" RELATED [] +synonym: "Ciliary Dyskinesia, Primary, 45, Without Situs Inversus" RELATED [] xref: DOID:0111857 {source="MONDO:equivalentTo"} xref: GARD:16383 {source="MONDO:GARD"} xref: MEDGEN:1714988 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510768,8 +510862,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032925 name: respiratory papillomatosis, juvenile recurrent, congenital subset: otar {source="MONDO:OTAR"} -synonym: "JRRP" RELATED ABBREVIATION [OMIM:618803] -synonym: "RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL" RELATED [OMIM:618803] +synonym: "JRRP" RELATED ABBREVIATION [] +synonym: "RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL" RELATED [] xref: MEDGEN:1719353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618803 {source="MONDO:equivalentTo"} xref: UMLS:C5394112 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1719353"} @@ -510781,8 +510875,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0032926 name: sandestig-stefanova syndrome subset: otar {source="MONDO:OTAR"} -synonym: "SANDESTIG-STEFANOVA SYNDROME" RELATED [OMIM:618804] -synonym: "SANDSTEF" RELATED ABBREVIATION [OMIM:618804] +synonym: "SANDESTIG-STEFANOVA SYNDROME" RELATED [] +synonym: "SANDSTEF" RELATED ABBREVIATION [] xref: DOID:0081272 {source="MONDO:equivalentTo"} xref: MEDGEN:1718072 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618804 {source="MONDO:equivalentTo"} @@ -510794,8 +510888,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032927 name: triokinase and FMN cyclase deficiency syndrome subset: otar {source="MONDO:OTAR"} -synonym: "TKFCD" RELATED ABBREVIATION [OMIM:618805] -synonym: "TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME" RELATED [OMIM:618805] +synonym: "TKFCD" RELATED ABBREVIATION [] +synonym: "TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME" RELATED [] xref: MEDGEN:1710207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618805 {source="MONDO:equivalentTo"} xref: UMLS:C5394125 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1710207"} @@ -510809,8 +510903,8 @@ subset: ordo_disorder {source="Orphanet:676039"} subset: orphanet_rare {source="Orphanet:676039"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT" RELATED [OMIM:618806] -synonym: "TLIND" RELATED ABBREVIATION [OMIM:618806] +synonym: "T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT" RELATED [] +synonym: "TLIND" RELATED ABBREVIATION [] xref: MEDGEN:1712366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618806 {source="MONDO:equivalentTo"} xref: Orphanet:676039 {source="MONDO:equivalentTo"} @@ -510822,8 +510916,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032930 name: intellectual developmental disorder with poor growth and with or without seizures or ataxia subset: otar {source="MONDO:OTAR"} -synonym: "IDPOGSA" RELATED ABBREVIATION [OMIM:618808] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA" RELATED [OMIM:618808] +synonym: "IDPOGSA" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA" RELATED [] xref: MEDGEN:1711370 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618808 {source="MONDO:equivalentTo"} xref: UMLS:C5394135 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1711370"} @@ -510839,12 +510933,12 @@ subset: ordo_disorder {source="Orphanet:615954"} subset: orphanet_rare {source="Orphanet:615954"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive" RELATED [OMIM:618810] +synonym: "Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive" RELATED [] synonym: "fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome" EXACT [Orphanet:615954] synonym: "fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome" EXACT [Orphanet:615954] -synonym: "PHRINL" RELATED ABBREVIATION [OMIM:618810] -synonym: "Phrinl Syndrome" RELATED [OMIM:618810] -synonym: "PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL" RELATED [OMIM:618810] +synonym: "PHRINL" RELATED ABBREVIATION [] +synonym: "Phrinl Syndrome" RELATED [] +synonym: "PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL" RELATED [] xref: DOID:0081396 {source="MONDO:equivalentTo"} xref: GARD:18034 {source="MONDO:GARD"} xref: MEDGEN:1716458 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510860,8 +510954,8 @@ name: mitochondrial DNA depletion syndrome 18 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 18" RELATED [OMIM:618811] -synonym: "MTDPS18" RELATED ABBREVIATION [OMIM:618811] +synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 18" RELATED [] +synonym: "MTDPS18" RELATED ABBREVIATION [] xref: DOID:0070449 {source="MONDO:equivalentTo"} xref: MEDGEN:1713890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618811 {source="MONDO:equivalentTo"} @@ -510877,7 +510971,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:656279"} subset: orphanet_rare {source="Orphanet:656279"} subset: rare -synonym: "CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT" RELATED [OMIM:618815] +synonym: "CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT" RELATED [] xref: DOID:0070470 {source="MONDO:equivalentTo"} xref: MEDGEN:1708515 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618815 {source="MONDO:equivalentTo"} @@ -510891,11 +510985,11 @@ id: MONDO:0032934 name: genitourinary and/or brain malformation syndrome subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME" RELATED [OMIM:618820] -synonym: "genitourinary and/or brain malformation syndrome" EXACT CLINGEN_LABEL [] -synonym: "genitourinary and/or/brain malformation syndrome" EXACT [OMIM:618820, OMIM:genemap2] +synonym: "GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME" RELATED [] +synonym: "genitourinary and/or brain malformation syndrome" EXACT CLINGEN_LABEL [OMIM:618820] +synonym: "genitourinary and/or/brain malformation syndrome" EXACT [] synonym: "GUB syndrome" EXACT [PMID:34499436] -synonym: "GUBS" RELATED ABBREVIATION [OMIM:618820] +synonym: "GUBS" RELATED ABBREVIATION [] synonym: "UBM syndrome" EXACT [PMID:34499436] synonym: "UBMS" EXACT ABBREVIATION [PMID:34499436] synonym: "Urogenital and/or brain malformation syndrome" EXACT [PMID:34499436] @@ -510912,8 +511006,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0032935 name: rhizomelic limb shortening with dysmorphic features subset: otar {source="MONDO:OTAR"} -synonym: "RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES" RELATED [OMIM:618821] -synonym: "RLSDF" RELATED ABBREVIATION [OMIM:618821] +synonym: "RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES" RELATED [] +synonym: "RLSDF" RELATED ABBREVIATION [] xref: MEDGEN:1720321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618821 {source="MONDO:equivalentTo"} xref: UMLS:C5394173 {source="MEDGEN:1720321", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -510926,8 +511020,8 @@ name: myopathy, congenital, with respiratory insufficiency and bone fractures subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES" RELATED [OMIM:618822] -synonym: "MYORIBF" RELATED ABBREVIATION [OMIM:618822] +synonym: "MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES" RELATED [] +synonym: "MYORIBF" RELATED ABBREVIATION [] xref: DOID:0081343 {source="MONDO:equivalentTo"} xref: MEDGEN:1718097 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618822 {source="MONDO:equivalentTo"} @@ -510941,8 +511035,8 @@ name: myopathy, congenital proximal, with minicore lesions subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS" RELATED [OMIM:618823] -synonym: "MYOPMIL" RELATED ABBREVIATION [OMIM:618823] +synonym: "MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS" RELATED [] +synonym: "MYOPMIL" RELATED ABBREVIATION [] xref: DOID:0081344 {source="MONDO:equivalentTo"} xref: MEDGEN:1717569 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618823 {source="MONDO:equivalentTo"} @@ -510957,8 +511051,8 @@ name: basal ganglia calcification, idiopathic, 8, autosomal recessive subset: gard_rare {source="GARD:16384", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE" RELATED [OMIM:618824] -synonym: "IBGC8" RELATED ABBREVIATION [OMIM:618824] +synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE" RELATED [] +synonym: "IBGC8" RELATED ABBREVIATION [] xref: GARD:16384 {source="MONDO:GARD"} xref: MEDGEN:1713414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618824 {source="MONDO:equivalentTo"} @@ -510975,9 +511069,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY" RELATED [OMIM:618825] -synonym: "Mental Retardation, Autosomal Dominant 63, With Macrocephaly" RELATED [OMIM:618825] -synonym: "MRD63" RELATED ABBREVIATION [OMIM:618825] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY" RELATED [] +synonym: "Mental Retardation, Autosomal Dominant 63, With Macrocephaly" RELATED [] +synonym: "MRD63" RELATED ABBREVIATION [] xref: MEDGEN:1716581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618825 {source="MONDO:equivalentTo"} xref: UMLS:C5394205 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1716581"} @@ -510992,8 +511086,8 @@ subset: gard_rare {source="GARD:16385", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "RETINITIS PIGMENTOSA 88" RELATED [OMIM:618826] -synonym: "RP88" RELATED ABBREVIATION [OMIM:618826] +synonym: "RETINITIS PIGMENTOSA 88" RELATED [] +synonym: "RP88" RELATED ABBREVIATION [] xref: DOID:0112145 {source="MONDO:equivalentTo"} xref: GARD:16385 {source="MONDO:GARD"} xref: MEDGEN:1720448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511007,8 +511101,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0032941 name: myopia 27 subset: otar {source="MONDO:OTAR"} -synonym: "MYOPIA 27" RELATED [OMIM:618827] -synonym: "MYP27" RELATED ABBREVIATION [OMIM:618827] +synonym: "MYOPIA 27" RELATED [] +synonym: "MYP27" RELATED ABBREVIATION [] xref: MEDGEN:1719756 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618827 {source="MONDO:equivalentTo"} xref: UMLS:C5394215 {source="MEDGEN:1719756", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511023,9 +511117,9 @@ subset: ordo_disorder {source="Orphanet:662179"} subset: orphanet_rare {source="Orphanet:662179"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "nabais sa-de vries syndrome, type 1" EXACT [OMIM:618828, OMIM:genemap2] -synonym: "NEDMIDF" RELATED ABBREVIATION [OMIM:618828] -synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES" RELATED [OMIM:618828] +synonym: "nabais sa-de vries syndrome, type 1" EXACT [OMIM:618828] +synonym: "NEDMIDF" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES" RELATED [] xref: MEDGEN:1719418 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618828 {source="MONDO:equivalentTo"} xref: Orphanet:662179 {source="MONDO:equivalentTo"} @@ -511043,9 +511137,9 @@ subset: ordo_disorder {source="Orphanet:662175"} subset: orphanet_rare {source="Orphanet:662175"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "nabais sa-de vries syndrome, type 2" EXACT [OMIM:618829, OMIM:genemap2] -synonym: "NEDMACE" RELATED ABBREVIATION [OMIM:618829] -synonym: "NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES" RELATED [OMIM:618829] +synonym: "nabais sa-de vries syndrome, type 2" EXACT [OMIM:618829] +synonym: "NEDMACE" RELATED ABBREVIATION [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES" RELATED [] xref: MEDGEN:1714169 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618829 {source="MONDO:equivalentTo"} xref: Orphanet:662175 {source="MONDO:equivalentTo"} @@ -511063,17 +511157,17 @@ def: "A autosomal dominant polycystic kidney disease that has material basis in subset: gard_rare {source="GARD:6168", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hepatic fibrosis, congenital" RELATED [OMIM:263200] -synonym: "PKD3" RELATED DEPRECATED [OMIM:263200] -synonym: "PKD3, formerly" RELATED [OMIM:263200] -synonym: "PKD4" RELATED ABBREVIATION [OMIM:263200] -synonym: "polycystic kidney and hepatic disease 1" RELATED [OMIM:263200] +synonym: "hepatic fibrosis, congenital" RELATED [] +synonym: "PKD3" RELATED DEPRECATED [] +synonym: "PKD3, formerly" RELATED [] +synonym: "PKD4" RELATED ABBREVIATION [] +synonym: "polycystic kidney and hepatic disease 1" RELATED [] synonym: "polycystic kidney disease 4" EXACT [DOID:0080212] -synonym: "polycystic kidney disease 4 with or without hepatic disease" RELATED [OMIM:263200] -synonym: "polycystic kidney disease 4 with or without polycystic liver disease" RELATED [OMIM:263200] -synonym: "polycystic kidney disease 4, with or without hepatic disease" EXACT [OMIM:263200, OMIM:genemap2] -synonym: "polycystic kidney disease, autosomal recessive" RELATED [OMIM:263200] -synonym: "polycystic kidney disease, infantile, type 1" RELATED [OMIM:263200] +synonym: "polycystic kidney disease 4 with or without hepatic disease" RELATED [] +synonym: "polycystic kidney disease 4 with or without polycystic liver disease" RELATED [] +synonym: "polycystic kidney disease 4, with or without hepatic disease" EXACT [] +synonym: "polycystic kidney disease, autosomal recessive" RELATED [] +synonym: "polycystic kidney disease, infantile, type 1" RELATED [] xref: DOID:0080212 {source="MONDO:equivalentTo"} xref: GARD:6168 {source="MONDO:GARD"} xref: MEDGEN:1621793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511096,16 +511190,16 @@ name: Galloway-Mowat syndrome 1 subset: gard_rare {source="GARD:15199", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities" RELATED [OMIM:251300] -synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" RELATED DEPRECATED [OMIM:251300] -synonym: "Galloway syndrome" RELATED [OMIM:251300] -synonym: "Galloway-Mowat syndrome 1" EXACT [OMIM:251300] -synonym: "GAMOS1" RELATED ABBREVIATION [OMIM:251300] -synonym: "microcephaly, hiatal hernia, and nephrotic syndrome" RELATED [OMIM:251300] -synonym: "nephrosis-microcephaly syndrome" RELATED [OMIM:251300] -synonym: "nephrosis-neuronal dysmigration syndrome" RELATED [OMIM:251300] -synonym: "spinocerebellar ataxia, autosomal recessive 5" RELATED [OMIM:251300] -synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [OMIM:251300] +synonym: "cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities" RELATED [] +synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" RELATED DEPRECATED [] +synonym: "Galloway syndrome" RELATED [] +synonym: "Galloway-Mowat syndrome 1" EXACT [DOID:0060364, OMIM:251300] +synonym: "GAMOS1" RELATED ABBREVIATION [] +synonym: "microcephaly, hiatal hernia, and nephrotic syndrome" RELATED [] +synonym: "nephrosis-microcephaly syndrome" RELATED [] +synonym: "nephrosis-neuronal dysmigration syndrome" RELATED [] +synonym: "spinocerebellar ataxia, autosomal recessive 5" RELATED [] +synonym: "spinocerebellar ataxia, autosomal recessive 5, formerly" RELATED [] xref: DOID:0060364 {source="MONDO:equivalentTo"} xref: GARD:15199 {source="MONDO:GARD"} xref: MEDGEN:1634188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511123,10 +511217,10 @@ subset: gard_rare {source="GARD:15281", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Galloway-Mowat syndrome 2" RELATED [DOID:0080244] +synonym: "Galloway-Mowat syndrome 2" RELATED [] synonym: "Galloway-Mowat syndrome 2, X-linked" EXACT [OMIM:301006] -synonym: "Galloway-Mowat syndrome 2, X-linked, X-linked recessive" EXACT [OMIM:301006, OMIM:genemap2] -synonym: "GAMOS2" RELATED ABBREVIATION [OMIM:301006] +synonym: "Galloway-Mowat syndrome 2, X-linked, X-linked recessive" EXACT [] +synonym: "GAMOS2" RELATED ABBREVIATION [] xref: DOID:0080244 {source="MONDO:equivalentTo"} xref: GARD:15281 {source="MONDO:GARD"} xref: MEDGEN:1625619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511143,8 +511237,8 @@ name: Galloway-Mowat syndrome 3 subset: gard_rare {source="GARD:16247", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Galloway-Mowat syndrome 3" EXACT [OMIM:617729] -synonym: "GAMOS3" RELATED ABBREVIATION [OMIM:617729] +synonym: "Galloway-Mowat syndrome 3" EXACT [DOID:0080245, OMIM:617729] +synonym: "GAMOS3" RELATED ABBREVIATION [] xref: DOID:0080245 {source="MONDO:equivalentTo"} xref: GARD:16247 {source="MONDO:GARD"} xref: MEDGEN:1627611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511160,8 +511254,8 @@ name: Galloway-Mowat syndrome 4 subset: gard_rare {source="GARD:16248", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Galloway-Mowat syndrome 4" EXACT [OMIM:617730] -synonym: "GAMOS4" RELATED ABBREVIATION [OMIM:617730] +synonym: "Galloway-Mowat syndrome 4" EXACT [DOID:0080246, OMIM:617730] +synonym: "GAMOS4" RELATED ABBREVIATION [] xref: DOID:0080246 {source="MONDO:equivalentTo"} xref: GARD:16248 {source="MONDO:GARD"} xref: MEDGEN:1613511 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511177,8 +511271,8 @@ name: Galloway-Mowat syndrome 5 subset: gard_rare {source="GARD:16249", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Galloway-Mowat syndrome 5" EXACT [OMIM:617731] -synonym: "GAMOS5" RELATED ABBREVIATION [OMIM:617731] +synonym: "Galloway-Mowat syndrome 5" EXACT [DOID:0080247, OMIM:617731] +synonym: "GAMOS5" RELATED ABBREVIATION [] xref: DOID:0080247 {source="MONDO:equivalentTo"} xref: GARD:16249 {source="MONDO:GARD"} xref: MEDGEN:1617227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511194,15 +511288,15 @@ name: erythrokeratodermia variabilis et progressiva 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EKVP1" RELATED ABBREVIATION [OMIM:133200] -synonym: "erythrokeratodermia Figurata, congenital familial, in plaques" RELATED [OMIM:133200] -synonym: "erythrokeratodermia variabilis" RELATED [OMIM:133200] -synonym: "erythrokeratodermia variabilis Et progressiva" RELATED [OMIM:133200] -synonym: "erythrokeratodermia variabilis ET progressiva 1" RELATED [OMIM:133200] -synonym: "erythrokeratodermia variabilis with erythema Gyratum Repens" RELATED [OMIM:133200] -synonym: "erythrokeratodermia, progressive symmetric" RELATED [OMIM:133200] -synonym: "Greither disease" RELATED [OMIM:133200] -synonym: "keratosis palmoplantaris transgrediens Et progrediens" RELATED [OMIM:133200] +synonym: "EKVP1" RELATED ABBREVIATION [] +synonym: "erythrokeratodermia Figurata, congenital familial, in plaques" RELATED [] +synonym: "erythrokeratodermia variabilis" RELATED [] +synonym: "erythrokeratodermia variabilis Et progressiva" RELATED [] +synonym: "erythrokeratodermia variabilis ET progressiva 1" RELATED [] +synonym: "erythrokeratodermia variabilis with erythema Gyratum Repens" RELATED [] +synonym: "erythrokeratodermia, progressive symmetric" RELATED [] +synonym: "Greither disease" RELATED [] +synonym: "keratosis palmoplantaris transgrediens Et progrediens" RELATED [] xref: DOID:0111195 {source="MONDO:equivalentTo"} xref: MEDGEN:1633225 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:133200 {source="MONDO:equivalentTo"} @@ -511219,8 +511313,8 @@ name: erythrokeratodermia variabilis et progressiva 2 subset: gard_rare {source="GARD:18588", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EKVP2" RELATED ABBREVIATION [OMIM:617524] -synonym: "erythrokeratodermia variabilis ET progressiva 2" RELATED [OMIM:617524] +synonym: "EKVP2" RELATED ABBREVIATION [] +synonym: "erythrokeratodermia variabilis ET progressiva 2" RELATED [] xref: DOID:0080248 {source="MONDO:equivalentTo"} xref: GARD:18588 {source="MONDO:GARD"} xref: MEDGEN:1379712 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511236,8 +511330,8 @@ name: erythrokeratodermia variabilis et progressiva 3 subset: gard_rare {source="GARD:18589", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EKVP3" RELATED ABBREVIATION [OMIM:617525] -synonym: "erythrokeratodermia variabilis ET progressiva 3" RELATED [OMIM:617525] +synonym: "EKVP3" RELATED ABBREVIATION [] +synonym: "erythrokeratodermia variabilis ET progressiva 3" RELATED [] xref: DOID:0080249 {source="MONDO:equivalentTo"} xref: GARD:18589 {source="MONDO:GARD"} xref: MEDGEN:1380593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511255,9 +511349,9 @@ subset: gard_rare {source="GARD:18590", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EKVP4" RELATED ABBREVIATION [OMIM:617526] -synonym: "erythrokeratodermia variabilis ET progressiva 4" RELATED [OMIM:617526] -synonym: "erythrokeratodermia variabilis et progressiva 4" EXACT CLINGEN_LABEL [] +synonym: "EKVP4" RELATED ABBREVIATION [] +synonym: "erythrokeratodermia variabilis ET progressiva 4" RELATED [] +synonym: "erythrokeratodermia variabilis et progressiva 4" EXACT CLINGEN_LABEL [DOID:0080250, OMIM:617526] xref: DOID:0080250 {source="MONDO:equivalentTo"} xref: GARD:18590 {source="MONDO:GARD"} xref: MEDGEN:1372799 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511274,8 +511368,8 @@ name: erythrokeratodermia variabilis et progressiva 5 subset: gard_rare {source="GARD:18669", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EKVP5" RELATED ABBREVIATION [OMIM:617756] -synonym: "erythrokeratodermia variabilis ET progressiva 5" RELATED [OMIM:617756] +synonym: "EKVP5" RELATED ABBREVIATION [] +synonym: "erythrokeratodermia variabilis ET progressiva 5" RELATED [] xref: DOID:0080251 {source="MONDO:equivalentTo"} xref: GARD:18669 {source="MONDO:GARD"} xref: MEDGEN:1626376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511294,9 +511388,9 @@ subset: ordo_disorder {source="Orphanet:527497"} subset: orphanet_rare {source="Orphanet:527497"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spastic ataxia 8" RELATED [DOID:0080252] +synonym: "spastic ataxia 8" RELATED [] synonym: "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" EXACT [OMIM:617560] -synonym: "SPAX8" RELATED ABBREVIATION [OMIM:617560] +synonym: "SPAX8" RELATED ABBREVIATION [] xref: DOID:0080252 {source="MONDO:equivalentTo"} xref: GARD:17964 {source="MONDO:GARD"} xref: MEDGEN:1382553 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511314,9 +511408,9 @@ id: MONDO:0033044 name: Meckel syndrome 13 subset: gard_rare {source="GARD:16236", source="MONDO:GARD"} subset: rare -synonym: "Meckel syndrome 13" EXACT [OMIM:617562] +synonym: "Meckel syndrome 13" EXACT [DOID:0080253, OMIM:617562] synonym: "Meckel syndrome, type 13" EXACT [https://github.com/monarch-initiative/mondo/issues/300] -synonym: "MKS13" RELATED ABBREVIATION [OMIM:617562] +synonym: "MKS13" RELATED ABBREVIATION [] xref: DOID:0080253 {source="MONDO:equivalentTo"} xref: GARD:16236 {source="MONDO:GARD"} xref: MEDGEN:1627793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511331,10 +511425,10 @@ name: orofaciodigital syndrome 16 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "OFD16" RELATED ABBREVIATION [OMIM:617563] -synonym: "Ofds 16" RELATED [OMIM:617563] -synonym: "oral-Facial-digital syndrome, type 16" RELATED [OMIM:617563] -synonym: "orofaciodigital syndrome XVI" RELATED [DOID:0080254, OMIM:617563] +synonym: "OFD16" RELATED ABBREVIATION [] +synonym: "Ofds 16" RELATED [] +synonym: "oral-Facial-digital syndrome, type 16" RELATED [] +synonym: "orofaciodigital syndrome XVI" RELATED [] xref: DOID:0080254 {source="MONDO:equivalentTo"} xref: MEDGEN:1620071 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617563 {source="DOID:0080254", source="MONDO:equivalentTo"} @@ -511348,8 +511442,8 @@ name: Meier-Gorlin syndrome 8 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Meier-Gorlin syndrome 8" EXACT [OMIM:617564] -synonym: "MGORS8" RELATED ABBREVIATION [OMIM:617564] +synonym: "Meier-Gorlin syndrome 8" EXACT [DOID:0080255, OMIM:617564] +synonym: "MGORS8" RELATED ABBREVIATION [] xref: DOID:0080255 {source="MONDO:equivalentTo"} xref: MEDGEN:1390366 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617564 {source="DOID:0080255", source="MONDO:equivalentTo"} @@ -511362,8 +511456,8 @@ name: Perrault syndrome 6 subset: gard_rare {source="GARD:16237", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Perrault syndrome 6" EXACT [OMIM:617565] -synonym: "PRLTS6" RELATED ABBREVIATION [OMIM:617565] +synonym: "Perrault syndrome 6" EXACT [DOID:0080256, OMIM:617565] +synonym: "PRLTS6" RELATED ABBREVIATION [] xref: DOID:0080256 {source="MONDO:equivalentTo"} xref: GARD:16237 {source="MONDO:GARD"} xref: MEDGEN:1391447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511388,8 +511482,8 @@ name: ichthyosis, congenital, autosomal recessive 14 subset: gard_rare {source="GARD:16471", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ARCI14" RELATED ABBREVIATION [OMIM:617571] -synonym: "autosomal recessive congenital ichthyosis 14" RELATED [DOID:0080258] +synonym: "ARCI14" RELATED ABBREVIATION [] +synonym: "autosomal recessive congenital ichthyosis 14" RELATED [] synonym: "ichthyosis, congenital, autosomal recessive 14" EXACT [OMIM:617571] xref: DOID:0080258 {source="MONDO:equivalentTo"} xref: GARD:16471 {source="MONDO:GARD"} @@ -511406,8 +511500,8 @@ name: ichthyosis, congenital, autosomal recessive 13 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ARCI13" RELATED ABBREVIATION [OMIM:617574] -synonym: "autosomal recessive congenital ichthyosis 13" RELATED [DOID:0080257] +synonym: "ARCI13" RELATED ABBREVIATION [] +synonym: "autosomal recessive congenital ichthyosis 13" RELATED [] synonym: "ichthyosis, congenital, autosomal recessive 13" EXACT [OMIM:617574] xref: DOID:0080257 {source="MONDO:equivalentTo"} xref: MEDGEN:1620886 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511423,8 +511517,8 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive spinocerebellar ataxia 25" RELATED [DOID:0080259] -synonym: "SCAR25" RELATED ABBREVIATION [OMIM:617584] +synonym: "autosomal recessive spinocerebellar ataxia 25" RELATED [] +synonym: "SCAR25" RELATED ABBREVIATION [] synonym: "spinocerebellar ataxia, autosomal recessive 25" EXACT [OMIM:617584] xref: DOID:0080259 {source="MONDO:equivalentTo"} xref: MEDGEN:1618081 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511439,8 +511533,8 @@ name: spinocerebellar ataxia, autosomal recessive 26 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive spinocerebellar ataxia 26" RELATED [DOID:0080260] -synonym: "SCAR26" RELATED ABBREVIATION [OMIM:617633] +synonym: "autosomal recessive spinocerebellar ataxia 26" RELATED [] +synonym: "SCAR26" RELATED ABBREVIATION [] synonym: "spinocerebellar ataxia, autosomal recessive 26" EXACT [OMIM:617633] xref: DOID:0080260 {source="MONDO:equivalentTo"} xref: MEDGEN:1617917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511454,8 +511548,8 @@ name: exudative vitreoretinopathy 7 subset: gard_rare {source="GARD:16238", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "EVR7" RELATED ABBREVIATION [OMIM:617572] -synonym: "exudative vitreoretinopathy 7" EXACT [OMIM:617572] +synonym: "EVR7" RELATED ABBREVIATION [] +synonym: "exudative vitreoretinopathy 7" EXACT [DOID:0080264, OMIM:617572] xref: DOID:0080264 {source="MONDO:equivalentTo"} xref: GARD:16238 {source="MONDO:GARD"} xref: MEDGEN:1626650 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511477,8 +511571,8 @@ subset: ordo_disorder {source="Orphanet:476394"} subset: orphanet_rare {source="Orphanet:476394"} subset: rare synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1G" EXACT [OMIM:618279] -synonym: "CMT1G" EXACT ABBREVIATION [OMIM:618279] -synonym: "PMP2-related Charcot-Marie-Tooth disease type 1" EXACT [] +synonym: "CMT1G" EXACT ABBREVIATION [DOID:0111560, OMIM:618279] +synonym: "PMP2-related Charcot-Marie-Tooth disease type 1" EXACT [DOID:0111560, Orphanet:476394] xref: DOID:0111560 {source="MONDO:equivalentTo"} xref: GARD:17851 {source="MONDO:GARD"} xref: MEDGEN:1648290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511529,10 +511623,10 @@ name: hearing loss, autosomal recessive 106 subset: gard_rare {source="GARD:22656", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive nonsyndromic deafness 106" NARROW [DOID:0080261] -synonym: "deafness autosomal recessive 106" NARROW [OMIM:617637, OMIM:genemap2] -synonym: "deafness, autosomal recessive 106" NARROW [OMIM:617637] -synonym: "DFNB106" NARROW ABBREVIATION [OMIM:617637] +synonym: "autosomal recessive nonsyndromic deafness 106" NARROW [] +synonym: "deafness autosomal recessive 106" NARROW [] +synonym: "deafness, autosomal recessive 106" NARROW [] +synonym: "DFNB106" NARROW ABBREVIATION [] xref: DOID:0080261 {source="MONDO:equivalentTo"} xref: GARD:22656 {source="MONDO:GARD"} xref: MEDGEN:1627111 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511550,9 +511644,9 @@ name: hearing loss, autosomal recessive 107 subset: gard_rare {source="GARD:22657", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive nonsyndromic deafness 107" NARROW [DOID:0080262] -synonym: "deafness, autosomal recessive 107" NARROW [OMIM:617639, OMIM:genemap2] -synonym: "DFNB107" NARROW ABBREVIATION [OMIM:617639] +synonym: "autosomal recessive nonsyndromic deafness 107" NARROW [] +synonym: "deafness, autosomal recessive 107" NARROW [] +synonym: "DFNB107" NARROW ABBREVIATION [] xref: DOID:0080262 {source="MONDO:equivalentTo"} xref: GARD:22657 {source="MONDO:GARD"} xref: MEDGEN:1622558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511570,9 +511664,9 @@ name: hearing loss, autosomal recessive 108 subset: gard_rare {source="GARD:22658", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal recessive nonsyndromic deafness 108" NARROW [DOID:0080263] -synonym: "deafness, autosomal recessive 108" NARROW [OMIM:617654, OMIM:genemap2] -synonym: "DFNB108" NARROW ABBREVIATION [OMIM:617654] +synonym: "autosomal recessive nonsyndromic deafness 108" NARROW [] +synonym: "deafness, autosomal recessive 108" NARROW [] +synonym: "DFNB108" NARROW ABBREVIATION [] xref: DOID:0080263 {source="MONDO:equivalentTo"} xref: GARD:22658 {source="MONDO:GARD"} xref: MEDGEN:1627841 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511590,8 +511684,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness, autosomal recessive 57" NARROW [OMIM:618003, OMIM:genemap2] -synonym: "DFNB57" NARROW ABBREVIATION [OMIM:618003] +synonym: "deafness, autosomal recessive 57" NARROW [] +synonym: "DFNB57" NARROW ABBREVIATION [] synonym: "hearing loss, autosomal recessive 57" EXACT CLINGEN_LABEL [] xref: DOID:0111635 {source="MONDO:equivalentTo"} xref: MEDGEN:1631180 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511608,8 +511702,8 @@ name: hearing loss, autosomal recessive 109 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 109" NARROW [OMIM:618013, OMIM:genemap2] -synonym: "DFNB109" NARROW ABBREVIATION [OMIM:618013] +synonym: "deafness, autosomal recessive 109" NARROW [] +synonym: "DFNB109" NARROW ABBREVIATION [] xref: DOID:0111639 {source="MONDO:equivalentTo"} xref: MEDGEN:1633308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618013 {source="MONDO:equivalentTo"} @@ -511627,15 +511721,15 @@ subset: ordo_disorder {source="Orphanet:506334"} subset: orphanet_rare {source="Orphanet:506334"} subset: rare synonym: "familial steroid-resistant nephrotic syndrome with adrenal insufficiency" EXACT [Orphanet:506334] -synonym: "nephrotic syndrome 14" EXACT [OMIM:617575] -synonym: "nephrotic syndrome, type 14" EXACT [https://github.com/monarch-initiative/mondo/issues/306] -synonym: "NPHS14" RELATED ABBREVIATION [OMIM:617575] +synonym: "nephrotic syndrome 14" EXACT [] +synonym: "nephrotic syndrome, type 14" EXACT [https://github.com/monarch-initiative/mondo/issues/306, OMIM:617575] +synonym: "NPHS14" RELATED ABBREVIATION [] synonym: "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency" EXACT [Orphanet:506334] synonym: "renal, endocrine, neurologic and immune syndrome" EXACT [MEDGEN:1617660] -synonym: "RENI syndrome" EXACT [MEDGEN:1617660] +synonym: "RENI syndrome" EXACT [MEDGEN:1617660, OMIM:617575] synonym: "SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK562988/] -synonym: "sphingosine phosphate lyase insufficiency syndrome" EXACT [MEDGEN:1617660] -synonym: "SPLIS" EXACT ABBREVIATION [MEDGEN:1617660] +synonym: "sphingosine phosphate lyase insufficiency syndrome" EXACT [MEDGEN:1617660, OMIM:617575, Orphanet:506334] +synonym: "SPLIS" EXACT ABBREVIATION [MEDGEN:1617660, Orphanet:506334] xref: DOID:0080265 {source="MONDO:equivalentTo"} xref: GARD:13818 {source="MONDO:GARD"} xref: MEDGEN:1617660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511658,10 +511752,10 @@ subset: gard_rare {source="GARD:16239", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CILD37" RELATED ABBREVIATION [OMIM:617577] +synonym: "CILD37" RELATED ABBREVIATION [] synonym: "ciliary dyskinesia, primary, 37" EXACT [OMIM:617577] -synonym: "ciliary dyskinesia, primary, 37, with or without situs inversus" RELATED [OMIM:617577] -synonym: "primary ciliary dyskinesia 37" RELATED [DOID:0080266] +synonym: "ciliary dyskinesia, primary, 37, with or without situs inversus" RELATED [] +synonym: "primary ciliary dyskinesia 37" RELATED [] xref: DOID:0080266 {source="MONDO:equivalentTo"} xref: GARD:16239 {source="MONDO:GARD"} xref: MEDGEN:1615746 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511686,9 +511780,9 @@ name: hearing loss, autosomal dominant 71 subset: gard_rare {source="GARD:18147", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant nonsyndromic deafness 71" NARROW [DOID:0080267] -synonym: "deafness, autosomal dominant 71" NARROW [OMIM:617605, OMIM:genemap2] -synonym: "DFNA71" NARROW ABBREVIATION [OMIM:617605] +synonym: "autosomal dominant nonsyndromic deafness 71" NARROW [] +synonym: "deafness, autosomal dominant 71" NARROW [] +synonym: "DFNA71" NARROW ABBREVIATION [] xref: DOID:0080267 {source="MONDO:equivalentTo"} xref: GARD:18147 {source="MONDO:GARD"} xref: MEDGEN:1621646 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511705,9 +511799,9 @@ name: hearing loss, autosomal dominant 72 subset: gard_rare {source="GARD:18148", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant nonsyndromic deafness 72" NARROW [DOID:0080268] -synonym: "deafness, autosomal dominant 72" NARROW [OMIM:617606, OMIM:genemap2] -synonym: "DFNA72" NARROW ABBREVIATION [OMIM:617606] +synonym: "autosomal dominant nonsyndromic deafness 72" NARROW [] +synonym: "deafness, autosomal dominant 72" NARROW [] +synonym: "DFNA72" NARROW ABBREVIATION [] xref: DOID:0080268 {source="MONDO:equivalentTo"} xref: GARD:18148 {source="MONDO:GARD"} xref: MEDGEN:1614203 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511724,9 +511818,9 @@ name: hearing loss, autosomal dominant 73 subset: gard_rare {source="GARD:18149", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant nonsyndromic deafness 73" NARROW [DOID:0080269] -synonym: "deafness, autosomal dominant 73" NARROW [OMIM:617663, OMIM:genemap2] -synonym: "DFNA73" NARROW ABBREVIATION [OMIM:617663] +synonym: "autosomal dominant nonsyndromic deafness 73" NARROW [] +synonym: "deafness, autosomal dominant 73" NARROW [] +synonym: "DFNA73" NARROW ABBREVIATION [] xref: DOID:0080269 {source="MONDO:equivalentTo"} xref: GARD:18149 {source="MONDO:GARD"} xref: MEDGEN:1627153 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511743,9 +511837,9 @@ name: hearing loss, autosomal dominant 34, with or without inflammation subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autosomal dominant nonsyndromic deafness 34" NARROW [DOID:0080270] -synonym: "deafness, autosomal dominant 34, with or without inflammation" NARROW [OMIM:617772, OMIM:genemap2] -synonym: "DFNA34" NARROW ABBREVIATION [OMIM:617772] +synonym: "autosomal dominant nonsyndromic deafness 34" NARROW [] +synonym: "deafness, autosomal dominant 34, with or without inflammation" NARROW [] +synonym: "DFNA34" NARROW ABBREVIATION [] xref: DOID:0080270 {source="MONDO:equivalentTo"} xref: MEDGEN:1626346 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617772 {source="MONDO:equivalentTo", source="DOID:0080270"} @@ -511758,9 +511852,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0033262 name: nephrotic syndrome 15 -synonym: "nephrotic syndrome 15" EXACT [OMIM:617609] -synonym: "nephrotic syndrome, type 15" EXACT [https://github.com/monarch-initiative/mondo/issues/307] -synonym: "NPHS15" RELATED ABBREVIATION [OMIM:617609] +synonym: "nephrotic syndrome 15" EXACT [] +synonym: "nephrotic syndrome, type 15" EXACT [https://github.com/monarch-initiative/mondo/issues/307, OMIM:617609] +synonym: "NPHS15" RELATED ABBREVIATION [] xref: DOID:0080271 {source="MONDO:equivalentTo"} xref: MEDGEN:1620414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617609 {source="MONDO:equivalentTo", source="DOID:0080271"} @@ -511773,9 +511867,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0033280 name: nephrotic syndrome 16 -synonym: "nephrotic syndrome 16" EXACT [OMIM:617783] -synonym: "nephrotic syndrome, type 16" EXACT [https://github.com/monarch-initiative/mondo/issues/308] -synonym: "NPHS16" RELATED ABBREVIATION [OMIM:617783] +synonym: "nephrotic syndrome 16" EXACT [] +synonym: "nephrotic syndrome, type 16" EXACT [https://github.com/monarch-initiative/mondo/issues/308, OMIM:617783] +synonym: "NPHS16" RELATED ABBREVIATION [] xref: DOID:0080272 {source="MONDO:equivalentTo"} xref: MEDGEN:1622427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617783 {source="DOID:0080272", source="MONDO:equivalentTo"} @@ -511793,8 +511887,8 @@ subset: gard_rare {source="GARD:16242", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DZIP1L polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "PKD5" RELATED ABBREVIATION [OMIM:617610] -synonym: "polycystic kidney disease 5" EXACT [OMIM:617610] +synonym: "PKD5" RELATED ABBREVIATION [] +synonym: "polycystic kidney disease 5" EXACT [DOID:0080273, OMIM:617610] synonym: "polycystic kidney disease caused by mutation in DZIP1L" EXACT [] xref: DOID:0080273 {source="MONDO:equivalentTo"} xref: GARD:16242 {source="MONDO:GARD"} @@ -511819,8 +511913,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:569274"} subset: orphanet_rare {source="Orphanet:569274"} subset: rare -synonym: "MMDS5" RELATED ABBREVIATION [OMIM:617613] -synonym: "multiple mitochondrial dysfunctions syndrome 5" EXACT [OMIM:617613] +synonym: "MMDS5" RELATED ABBREVIATION [] +synonym: "multiple mitochondrial dysfunctions syndrome 5" EXACT [DOID:0080274, OMIM:617613] xref: DOID:0080274 {source="MONDO:equivalentTo"} xref: GARD:22305 {source="MONDO:GARD"} xref: MEDGEN:1623132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511852,8 +511946,8 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:16243", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "JBTS30" RELATED ABBREVIATION [OMIM:617622] -synonym: "Joubert syndrome 30" EXACT [OMIM:617622] +synonym: "JBTS30" RELATED ABBREVIATION [] +synonym: "Joubert syndrome 30" EXACT [DOID:0080275, OMIM:617622] xref: DOID:0080275 {source="MONDO:equivalentTo"} xref: GARD:16243 {source="MONDO:GARD"} xref: MEDGEN:1613861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511870,8 +511964,8 @@ name: Joubert syndrome 32 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "JBTS32" RELATED ABBREVIATION [OMIM:617757] -synonym: "Joubert syndrome 32" EXACT [OMIM:617757] +synonym: "JBTS32" RELATED ABBREVIATION [] +synonym: "Joubert syndrome 32" EXACT [DOID:0080278, OMIM:617757] xref: DOID:0080278 {source="MONDO:equivalentTo"} xref: MEDGEN:1626697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617757 {source="MONDO:equivalentTo", source="DOID:0080278"} @@ -511885,8 +511979,8 @@ name: Joubert syndrome 31 subset: gard_rare {source="GARD:16251", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "JBTS31" RELATED ABBREVIATION [OMIM:617761] -synonym: "Joubert syndrome 31" EXACT [OMIM:617761] +synonym: "JBTS31" RELATED ABBREVIATION [] +synonym: "Joubert syndrome 31" EXACT [DOID:0080277, OMIM:617761] xref: DOID:0080277 {source="MONDO:equivalentTo"} xref: GARD:16251 {source="MONDO:GARD"} xref: MEDGEN:1618082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -511902,8 +511996,8 @@ name: Joubert syndrome 33 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "JBTS33" RELATED ABBREVIATION [OMIM:617767] -synonym: "Joubert syndrome 33" EXACT [OMIM:617767] +synonym: "JBTS33" RELATED ABBREVIATION [] +synonym: "Joubert syndrome 33" EXACT [DOID:0080279, OMIM:617767] xref: DOID:0080279 {source="MONDO:equivalentTo"} xref: MEDGEN:1615779 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617767 {source="DOID:0080279", source="MONDO:equivalentTo"} @@ -511914,10 +512008,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0033312 name: schizophrenia 19 -synonym: "schizophrenia 19" EXACT [OMIM:617629] -synonym: "schizophrenia 19 with or without an affective disorder" RELATED [OMIM:617629] -synonym: "schizophrenia 19, susceptibility to" RELATED [OMIM:617629, OMIM:genemap2] -synonym: "SCZD19" RELATED ABBREVIATION [OMIM:617629] +synonym: "schizophrenia 19" EXACT [DOID:0080281, OMIM:617629] +synonym: "schizophrenia 19 with or without an affective disorder" RELATED [] +synonym: "schizophrenia 19, susceptibility to" RELATED [] +synonym: "SCZD19" RELATED ABBREVIATION [] xref: DOID:0080281 {source="MONDO:equivalentTo"} xref: MEDGEN:1613937 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617629 {source="MONDO:equivalentTo", source="DOID:0080281"} @@ -511993,9 +512087,9 @@ subset: gard_rare {source="GARD:16223", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE52" EXACT ABBREVIATION [OMIM:617350] -synonym: "developmental and epileptic encephalopathy 52" EXACT [OMIM:617350, OMIM:genemap2] -synonym: "EIEE52" EXACT ABBREVIATION [OMIM:617350] +synonym: "DEE52" EXACT ABBREVIATION [DOID:0080455, OMIM:617350] +synonym: "developmental and epileptic encephalopathy 52" EXACT [DOID:0080455, OMIM:617350] +synonym: "EIEE52" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 52" EXACT [OMIM:617350] xref: DOID:0080455 {source="MONDO:equivalentTo"} xref: GARD:16223 {source="MONDO:GARD"} @@ -512013,9 +512107,9 @@ name: developmental and epileptic encephalopathy, 53 subset: gard_rare {source="GARD:16224", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE53" EXACT ABBREVIATION [OMIM:617389] -synonym: "developmental and epileptic encephalopathy 53" EXACT [OMIM:617389, OMIM:genemap2] -synonym: "EIEE53" EXACT ABBREVIATION [OMIM:617389] +synonym: "DEE53" EXACT ABBREVIATION [DOID:0080464, OMIM:617389] +synonym: "developmental and epileptic encephalopathy 53" EXACT [DOID:0080464, OMIM:617389] +synonym: "EIEE53" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 53" EXACT [OMIM:617389] xref: DOID:0080464 {source="MONDO:equivalentTo"} xref: GARD:16224 {source="MONDO:GARD"} @@ -512034,9 +512128,9 @@ subset: gard_rare {source="GARD:16225", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD", source="NORD:146101"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE54" EXACT ABBREVIATION [OMIM:617391] -synonym: "developmental and epileptic encephalopathy 54" EXACT [OMIM:617391, OMIM:genemap2] -synonym: "EIEE54" EXACT ABBREVIATION [OMIM:617391] +synonym: "DEE54" EXACT ABBREVIATION [DOID:0080418, OMIM:617391] +synonym: "developmental and epileptic encephalopathy 54" EXACT [DOID:0080418, OMIM:617391] +synonym: "EIEE54" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 54" EXACT [OMIM:617391] synonym: "HNRNPU-Related Disorder" EXACT [NORD:146101] xref: DOID:0080418 {source="MONDO:equivalentTo"} @@ -512057,12 +512151,12 @@ def: "A developmental and epileptic encephalopathy characterized by onset in the subset: gard_rare {source="GARD:16241", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE55" EXACT ABBREVIATION [OMIM:617599] -synonym: "developmental and epileptic encephalopathy 55" EXACT [OMIM:617599, OMIM:genemap2] -synonym: "EIEE55" EXACT ABBREVIATION [OMIM:617599] +synonym: "DEE55" EXACT ABBREVIATION [DOID:0080283, OMIM:617599] +synonym: "developmental and epileptic encephalopathy 55" EXACT [DOID:0080283, OMIM:617599] +synonym: "EIEE55" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 55" EXACT [OMIM:617599] -synonym: "glycosylphosphatidylinositol biosynthesis defect 14" RELATED [OMIM:617599] -synonym: "infantile epileptic encephalopathy 55" RELATED [DOID:0080283] +synonym: "glycosylphosphatidylinositol biosynthesis defect 14" RELATED [] +synonym: "infantile epileptic encephalopathy 55" RELATED [] xref: DOID:0080283 {source="MONDO:equivalentTo"} xref: GARD:16241 {source="MONDO:GARD"} xref: MEDGEN:1622363 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512080,11 +512174,11 @@ name: developmental and epileptic encephalopathy, 56 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE56" EXACT ABBREVIATION [OMIM:617665] -synonym: "developmental and epileptic encephalopathy 56" EXACT [OMIM:617665, OMIM:genemap2] -synonym: "EIEE56" EXACT ABBREVIATION [OMIM:617665] +synonym: "DEE56" EXACT ABBREVIATION [DOID:0080282, OMIM:617665] +synonym: "developmental and epileptic encephalopathy 56" EXACT [DOID:0080282, OMIM:617665] +synonym: "EIEE56" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 56" EXACT [OMIM:617665] -synonym: "infantile epileptic encephalopathy 56" EXACT [DOID:0080282] +synonym: "infantile epileptic encephalopathy 56" EXACT [] xref: DOID:0080282 {source="MONDO:equivalentTo"} xref: MEDGEN:1621755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617665 {source="MONDO:equivalentTo", source="DOID:0080282"} @@ -512099,11 +512193,11 @@ name: developmental and epileptic encephalopathy, 57 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE57" EXACT ABBREVIATION [OMIM:617771] -synonym: "developmental and epileptic encephalopathy 57" EXACT [OMIM:617771, OMIM:genemap2] -synonym: "EIEE57" EXACT ABBREVIATION [OMIM:617771] +synonym: "DEE57" EXACT ABBREVIATION [DOID:0080284, OMIM:617771] +synonym: "developmental and epileptic encephalopathy 57" EXACT [DOID:0080284, OMIM:617771] +synonym: "EIEE57" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 57" EXACT [OMIM:617771] -synonym: "infantile epileptic encephalopathy 57" EXACT [DOID:0080284] +synonym: "infantile epileptic encephalopathy 57" EXACT [] xref: DOID:0080284 {source="MONDO:equivalentTo"} xref: MEDGEN:1621769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617771 {source="DOID:0080284", source="MONDO:equivalentTo"} @@ -512118,11 +512212,11 @@ name: developmental and epileptic encephalopathy, 58 subset: gard_rare {source="GARD:16259", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE58" EXACT ABBREVIATION [OMIM:617830] -synonym: "developmental and epileptic encephalopathy 58" EXACT [OMIM:617830, OMIM:genemap2] -synonym: "EIEE58" EXACT ABBREVIATION [OMIM:617830] +synonym: "DEE58" EXACT ABBREVIATION [DOID:0080285, OMIM:617830] +synonym: "developmental and epileptic encephalopathy 58" EXACT [DOID:0080285, OMIM:617830] +synonym: "EIEE58" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 58" EXACT [OMIM:617830] -synonym: "infantile epileptic encephalopathy 58" EXACT [DOID:0080285] +synonym: "infantile epileptic encephalopathy 58" EXACT [] xref: DOID:0080285 {source="MONDO:equivalentTo"} xref: GARD:16259 {source="MONDO:GARD"} xref: MEDGEN:1646861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512139,11 +512233,11 @@ name: developmental and epileptic encephalopathy, 59 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE59" EXACT ABBREVIATION [OMIM:617904] -synonym: "developmental and epileptic encephalopathy 59" EXACT [OMIM:617904, OMIM:genemap2] -synonym: "EIEE59" EXACT ABBREVIATION [OMIM:617904] +synonym: "DEE59" EXACT ABBREVIATION [DOID:0080291, OMIM:617904] +synonym: "developmental and epileptic encephalopathy 59" EXACT [DOID:0080291, OMIM:617904] +synonym: "EIEE59" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 59" EXACT [OMIM:617904] -synonym: "infantile epileptic encephalopathy 59" EXACT [DOID:0080291] +synonym: "infantile epileptic encephalopathy 59" EXACT [] xref: DOID:0080291 {source="MONDO:equivalentTo"} xref: MEDGEN:1633749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617904 {source="MONDO:equivalentTo", source="DOID:0080291"} @@ -512158,9 +512252,9 @@ name: developmental and epileptic encephalopathy, 60 subset: gard_rare {source="GARD:16270", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE60" EXACT ABBREVIATION [OMIM:617929] -synonym: "developmental and epileptic encephalopathy 60" EXACT [OMIM:617929, OMIM:genemap2] -synonym: "EIEE60" EXACT ABBREVIATION [OMIM:617929] +synonym: "DEE60" EXACT ABBREVIATION [DOID:0080432, OMIM:617929] +synonym: "developmental and epileptic encephalopathy 60" EXACT [DOID:0080432, OMIM:617929] +synonym: "EIEE60" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 60" EXACT [OMIM:617929] xref: DOID:0080432 {source="MONDO:equivalentTo"} xref: GARD:16270 {source="MONDO:GARD"} @@ -512177,9 +512271,9 @@ name: developmental and epileptic encephalopathy, 61 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE61" EXACT ABBREVIATION [OMIM:617933] -synonym: "developmental and epileptic encephalopathy 61" EXACT [OMIM:617933, OMIM:genemap2] -synonym: "EIEE61" EXACT ABBREVIATION [OMIM:617933] +synonym: "DEE61" EXACT ABBREVIATION [DOID:0080434, OMIM:617933] +synonym: "developmental and epileptic encephalopathy 61" EXACT [DOID:0080434, OMIM:617933] +synonym: "EIEE61" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 61" EXACT [OMIM:617933] xref: DOID:0080434 {source="MONDO:equivalentTo"} xref: MEDGEN:1639392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512195,9 +512289,9 @@ name: developmental and epileptic encephalopathy, 62 subset: gard_rare {source="GARD:16271", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE62" EXACT ABBREVIATION [OMIM:617938] -synonym: "developmental and epileptic encephalopathy 62" EXACT [OMIM:617938, OMIM:genemap2] -synonym: "EIEE62" EXACT ABBREVIATION [OMIM:617938] +synonym: "DEE62" EXACT ABBREVIATION [DOID:0080420, OMIM:617938] +synonym: "developmental and epileptic encephalopathy 62" EXACT [DOID:0080420, OMIM:617938] +synonym: "EIEE62" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 62" EXACT [OMIM:617938] xref: DOID:0080420 {source="MONDO:equivalentTo"} xref: GARD:16271 {source="MONDO:GARD"} @@ -512214,9 +512308,9 @@ name: developmental and epileptic encephalopathy, 63 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE63" EXACT ABBREVIATION [OMIM:617976] -synonym: "developmental and epileptic encephalopathy 63" EXACT [OMIM:617976, OMIM:genemap2] -synonym: "EIEE63" EXACT ABBREVIATION [OMIM:617976] +synonym: "DEE63" EXACT ABBREVIATION [DOID:0080426, OMIM:617976] +synonym: "developmental and epileptic encephalopathy 63" EXACT [DOID:0080426, OMIM:617976] +synonym: "EIEE63" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 63" EXACT [OMIM:617976] xref: DOID:0080426 {source="MONDO:equivalentTo"} xref: MEDGEN:1646846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512232,9 +512326,9 @@ name: developmental and epileptic encephalopathy, 64 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE64" EXACT ABBREVIATION [OMIM:618004] -synonym: "developmental and epileptic encephalopathy 64" EXACT [OMIM:618004, OMIM:genemap2] -synonym: "EIEE64" EXACT ABBREVIATION [OMIM:618004] +synonym: "DEE64" EXACT ABBREVIATION [DOID:0070375, OMIM:618004] +synonym: "developmental and epileptic encephalopathy 64" EXACT [DOID:0070375, OMIM:618004] +synonym: "EIEE64" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 64" EXACT [OMIM:618004] xref: DOID:0070375 {source="MONDO:equivalentTo"} xref: MEDGEN:1633501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512251,9 +512345,9 @@ subset: gard_rare {source="GARD:16283", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE65" EXACT ABBREVIATION [OMIM:618008] -synonym: "developmental and epileptic encephalopathy 65" EXACT [OMIM:618008, OMIM:genemap2] -synonym: "EIEE65" EXACT ABBREVIATION [OMIM:618008] +synonym: "DEE65" EXACT ABBREVIATION [DOID:0080430, OMIM:618008] +synonym: "developmental and epileptic encephalopathy 65" EXACT [DOID:0080430, OMIM:618008] +synonym: "EIEE65" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 65" EXACT [OMIM:618008] xref: DOID:0080430 {source="MONDO:equivalentTo"} xref: GARD:16283 {source="MONDO:GARD"} @@ -512270,10 +512364,10 @@ name: orofaciodigital syndrome 17 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "OFD17" RELATED ABBREVIATION [OMIM:617926] -synonym: "Ofds 17" RELATED [OMIM:617926] -synonym: "oral-Facial-digital syndrome, type 17" RELATED [OMIM:617926] -synonym: "orofaciodigital syndrome XVII" RELATED [DOID:0080289, OMIM:617926] +synonym: "OFD17" RELATED ABBREVIATION [] +synonym: "Ofds 17" RELATED [] +synonym: "oral-Facial-digital syndrome, type 17" RELATED [] +synonym: "orofaciodigital syndrome XVII" RELATED [] xref: DOID:0080289 {source="MONDO:equivalentTo"} xref: MEDGEN:1644516 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617926 {source="MONDO:equivalentTo", source="DOID:0080289"} @@ -512288,8 +512382,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:631095"} subset: orphanet_rare {source="Orphanet:631095"} subset: rare -synonym: "SCA44" RELATED ABBREVIATION [OMIM:617691] -synonym: "spinocerebellar ataxia 44" EXACT [OMIM:617691] +synonym: "SCA44" RELATED ABBREVIATION [] +synonym: "spinocerebellar ataxia 44" EXACT [DOID:0080286, OMIM:617691] xref: DOID:0080286 {source="MONDO:equivalentTo"} xref: MEDGEN:1611168 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617691 {source="DOID:0080286", source="MONDO:equivalentTo"} @@ -512308,8 +512402,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:589527"} subset: orphanet_rare {source="Orphanet:589527"} subset: rare -synonym: "SCA45" RELATED ABBREVIATION [OMIM:617769] -synonym: "spinocerebellar ataxia 45" EXACT [OMIM:617769] +synonym: "SCA45" RELATED ABBREVIATION [] +synonym: "spinocerebellar ataxia 45" EXACT [DOID:0080287, OMIM:617769] xref: DOID:0080287 {source="MONDO:equivalentTo"} xref: GARD:22353 {source="MONDO:GARD"} xref: MEDGEN:1622156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512330,9 +512424,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:589522"} subset: orphanet_rare {source="Orphanet:589522"} subset: rare -synonym: "SCA46" RELATED ABBREVIATION [OMIM:617770] -synonym: "spinocerebellar ataxia 46" EXACT [OMIM:617770] -synonym: "spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy" RELATED [OMIM:617770] +synonym: "SCA46" RELATED ABBREVIATION [] +synonym: "spinocerebellar ataxia 46" EXACT [DOID:0080288, OMIM:617770] +synonym: "spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy" RELATED [] xref: DOID:0080288 {source="MONDO:equivalentTo"} xref: GARD:22352 {source="MONDO:GARD"} xref: MEDGEN:1624251 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512355,7 +512449,7 @@ subset: orphanet_rare {source="Orphanet:642747"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "PUM1-related cerebellar ataxia" EXACT [Orphanet:642747] -synonym: "SCA47" RELATED ABBREVIATION [OMIM:617931] +synonym: "SCA47" RELATED ABBREVIATION [] synonym: "spinocerebellar ataxia 47" EXACT [OMIM:617931] xref: DOID:0111743 {source="MONDO:equivalentTo"} xref: MEDGEN:1636349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512372,10 +512466,10 @@ def: "Any familial polycythemia in which the cause of the disease is a mutation subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECYT5" RELATED ABBREVIATION [OMIM:617907] +synonym: "ECYT5" RELATED ABBREVIATION [] synonym: "EPO familial polycythemia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "erythrocytosis, familial, 5" EXACT [OMIM:617907] -synonym: "familial erythrocytosis 5" RELATED [DOID:0080290] +synonym: "familial erythrocytosis 5" RELATED [] synonym: "familial polycythemia caused by mutation in EPO" EXACT [MONDO:design_pattern] xref: DOID:0080290 {source="MONDO:equivalentTo"} xref: MEDGEN:1638941 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512392,8 +512486,8 @@ name: short-rib thoracic dysplasia 19 with or without polydactyly subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "short-rib thoracic dysplasia 19 with or without polydactyly" EXACT [OMIM:617895] -synonym: "SRTD19" RELATED ABBREVIATION [OMIM:617895] +synonym: "short-rib thoracic dysplasia 19 with or without polydactyly" EXACT [DOID:0080295, OMIM:617895] +synonym: "SRTD19" RELATED ABBREVIATION [] xref: DOID:0080295 {source="MONDO:equivalentTo"} xref: MEDGEN:1635837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617895 {source="DOID:0080295", source="MONDO:equivalentTo"} @@ -512407,8 +512501,8 @@ name: leukodystrophy, hypomyelinating, 14 subset: gard_rare {source="GARD:16266", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HLD14" RELATED ABBREVIATION [OMIM:617899] -synonym: "hypomyelinating leukodystrophy 14" RELATED [DOID:0080296] +synonym: "HLD14" RELATED ABBREVIATION [] +synonym: "hypomyelinating leukodystrophy 14" RELATED [] synonym: "leukodystrophy, hypomyelinating, 14" EXACT [OMIM:617899] xref: DOID:0080296 {source="MONDO:equivalentTo"} xref: GARD:16266 {source="MONDO:GARD"} @@ -512426,9 +512520,9 @@ subset: gard_rare {source="GARD:16254", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "ARID2-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] -synonym: "COFFIN-SIRIS syndrome 6" RELATED [OMIM:617808] -synonym: "Coffin-Siris syndrome 6" EXACT CLINGEN_LABEL [] -synonym: "CSS6" RELATED ABBREVIATION [OMIM:617808] +synonym: "COFFIN-SIRIS syndrome 6" RELATED [] +synonym: "Coffin-Siris syndrome 6" EXACT CLINGEN_LABEL [DOID:0080297, OMIM:617808] +synonym: "CSS6" RELATED ABBREVIATION [] xref: DOID:0080297 {source="MONDO:equivalentTo"} xref: GARD:16254 {source="MONDO:GARD"} xref: MEDGEN:1615540 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512448,10 +512542,10 @@ subset: gard_rare {source="GARD:18357", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "fibromatosis, gingival, 5" EXACT [OMIM:617626] -synonym: "fibromatosis, gingival, hereditary, 5" RELATED [OMIM:617626] -synonym: "GGF5" RELATED ABBREVIATION [OMIM:617626] -synonym: "GINGF5" RELATED ABBREVIATION [OMIM:617626] -synonym: "gingival fibromatosis 5" RELATED [DOID:0080280] +synonym: "fibromatosis, gingival, hereditary, 5" RELATED [] +synonym: "GGF5" RELATED ABBREVIATION [] +synonym: "GINGF5" RELATED ABBREVIATION [] +synonym: "gingival fibromatosis 5" RELATED [] xref: DOID:0080280 {source="MONDO:equivalentTo"} xref: GARD:18357 {source="MONDO:GARD"} xref: MEDGEN:1624392 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512465,8 +512559,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0033532 name: Suleiman-El-Hattab syndrome subset: otar {source="MONDO:OTAR"} -synonym: "SULEHS" RELATED ABBREVIATION [OMIM:618950] -synonym: "SULEIMAN-EL-HATTAB SYNDROME" RELATED [OMIM:618950] +synonym: "SULEHS" RELATED ABBREVIATION [] +synonym: "SULEIMAN-EL-HATTAB SYNDROME" RELATED [] xref: MEDGEN:1738652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618950 {source="MONDO:equivalentTo"} xref: UMLS:C5436458 {source="MEDGEN:1738652", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512479,8 +512573,8 @@ name: combined oxidative phosphorylation deficiency 45 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45" RELATED [OMIM:618951] -synonym: "COXPD45" RELATED ABBREVIATION [OMIM:618951] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45" RELATED [] +synonym: "COXPD45" RELATED ABBREVIATION [] xref: DOID:0112113 {source="MONDO:equivalentTo"} xref: MEDGEN:1731010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618951 {source="MONDO:equivalentTo"} @@ -512494,9 +512588,9 @@ name: combined oxidative phosphorylation deficiency 46 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46" RELATED [OMIM:618952] -synonym: "combined oxidative phosphorylation defiency 46" EXACT [OMIM:618952, OMIM:genemap2] -synonym: "COXPD46" RELATED ABBREVIATION [OMIM:618952] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46" RELATED [] +synonym: "combined oxidative phosphorylation defiency 46" EXACT [] +synonym: "COXPD46" RELATED ABBREVIATION [] xref: DOID:0112115 {source="MONDO:equivalentTo"} xref: MEDGEN:1752252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618952 {source="MONDO:equivalentTo"} @@ -512511,8 +512605,8 @@ name: combined oxidative phosphorylation deficiency 47 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47" RELATED [OMIM:618958] -synonym: "COXPD47" RELATED ABBREVIATION [OMIM:618958] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47" RELATED [] +synonym: "COXPD47" RELATED ABBREVIATION [] xref: DOID:0112114 {source="MONDO:equivalentTo"} xref: MEDGEN:1775535 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618958 {source="MONDO:equivalentTo"} @@ -512524,11 +512618,11 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0033541 name: immunodeficiency 69 subset: otar {source="MONDO:OTAR"} -synonym: "Ifng Deficiency, Autosomal Recessive" RELATED [OMIM:618963] -synonym: "IMD69" RELATED ABBREVIATION [OMIM:618963] -synonym: "IMMUNODEFICIENCY 69" RELATED [OMIM:618963] -synonym: "immunodeficiency 69, mycobacteriosis" EXACT [OMIM:618963, OMIM:genemap2] -synonym: "Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive" RELATED [OMIM:618963] +synonym: "Ifng Deficiency, Autosomal Recessive" RELATED [] +synonym: "IMD69" RELATED ABBREVIATION [] +synonym: "IMMUNODEFICIENCY 69" RELATED [] +synonym: "immunodeficiency 69, mycobacteriosis" EXACT [] +synonym: "Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive" RELATED [] xref: DOID:0112006 {source="MONDO:equivalentTo"} xref: MEDGEN:1735911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618963 {source="MONDO:equivalentTo"} @@ -512541,8 +512635,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0033542 name: immunodeficiency 70 subset: otar {source="MONDO:OTAR"} -synonym: "IMD70" RELATED ABBREVIATION [OMIM:618969] -synonym: "IMMUNODEFICIENCY 70" RELATED [OMIM:618969] +synonym: "IMD70" RELATED ABBREVIATION [] +synonym: "IMMUNODEFICIENCY 70" RELATED [] xref: DOID:0112005 {source="MONDO:equivalentTo"} xref: MEDGEN:1740270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618969 {source="MONDO:equivalentTo"} @@ -512555,8 +512649,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0033543 name: cone-rod synaptic disorder syndrome, congenital nonprogressive subset: otar {source="MONDO:OTAR"} -synonym: "CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE" RELATED [OMIM:618970] -synonym: "CRSDS" RELATED ABBREVIATION [OMIM:618970] +synonym: "CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE" RELATED [] +synonym: "CRSDS" RELATED ABBREVIATION [] xref: MEDGEN:1773574 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618970 {source="MONDO:equivalentTo"} xref: UMLS:C5436505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1773574"} @@ -512571,10 +512665,10 @@ name: Tolchin-Le Caignec syndrome subset: gard_rare {source="GARD:18525", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder With behavioral abnormalities and variable bone defects" RELATED [OMIM:618971] +synonym: "intellectual developmental disorder With behavioral abnormalities and variable bone defects" RELATED [] synonym: "intellectual developmental disorder With behavioural abnormalities and variable bone defects" RELATED OMO:0003005 [] -synonym: "TOLCAS" RELATED ABBREVIATION [OMIM:618971] -synonym: "TOLCHIN-LE CAIGNEC SYNDROME" RELATED [OMIM:618971] +synonym: "TOLCAS" RELATED ABBREVIATION [] +synonym: "TOLCHIN-LE CAIGNEC SYNDROME" RELATED [] xref: GARD:18525 {source="MONDO:GARD"} xref: MEDGEN:1724999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618971 {source="MONDO:equivalentTo"} @@ -512588,8 +512682,8 @@ name: mitochondrial DNA depletion syndrome 19 subset: gard_rare {source="GARD:18370", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 19" RELATED [OMIM:618972] -synonym: "MTDPS19" RELATED ABBREVIATION [OMIM:618972] +synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 19" RELATED [] +synonym: "MTDPS19" RELATED ABBREVIATION [] xref: DOID:0070450 {source="MONDO:equivalentTo"} xref: GARD:18370 {source="MONDO:GARD"} xref: MEDGEN:1770258 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512602,10 +512696,10 @@ is_a: MONDO:0018158 {source="DOID:0070450", source="OMIM:618972"} ! mitochondria id: MONDO:0033546 name: neurodegeneration, infantile-onset, biotin-responsive subset: otar {source="MONDO:OTAR"} -synonym: "NERIB" RELATED ABBREVIATION [OMIM:618973] -synonym: "NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE" RELATED [OMIM:618973] -synonym: "Smvt Deficiency" RELATED [OMIM:618973] -synonym: "Sodium-Dependent Multivitamin Transporter Deficiency" RELATED [OMIM:618973] +synonym: "NERIB" RELATED ABBREVIATION [] +synonym: "NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE" RELATED [] +synonym: "Smvt Deficiency" RELATED [] +synonym: "Sodium-Dependent Multivitamin Transporter Deficiency" RELATED [] xref: MEDGEN:1771692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618973 {source="MONDO:equivalentTo"} xref: UMLS:C5436520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1771692"} @@ -512618,9 +512712,9 @@ name: Li-Ghorbani-Weisz-Hubshman syndrome subset: gard_rare {source="GARD:18526", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME" RELATED [OMIM:618974] -synonym: "Li-Ghorgani-Weisz-Hubshman syndrome" EXACT [OMIM:618974, OMIM:genemap2] -synonym: "LIGOWS" RELATED ABBREVIATION [OMIM:618974] +synonym: "LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME" RELATED [] +synonym: "Li-Ghorgani-Weisz-Hubshman syndrome" EXACT [] +synonym: "LIGOWS" RELATED ABBREVIATION [] xref: GARD:18526 {source="MONDO:GARD"} xref: MEDGEN:1763263 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618974 {source="MONDO:equivalentTo"} @@ -512635,9 +512729,9 @@ name: myopathy, congenital, with diaphragmatic defects, respiratory insufficienc subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MYODRIF" RELATED ABBREVIATION [OMIM:618975] -synonym: "Myopathy, Congenital, Due to Myod1 Deficiency" RELATED [OMIM:618975] -synonym: "MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES" RELATED [OMIM:618975] +synonym: "MYODRIF" RELATED ABBREVIATION [] +synonym: "Myopathy, Congenital, Due to Myod1 Deficiency" RELATED [] +synonym: "MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES" RELATED [] xref: DOID:0081349 {source="MONDO:equivalentTo"} xref: MEDGEN:1764743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618975 {source="MONDO:equivalentTo"} @@ -512654,8 +512748,8 @@ name: optic atrophy 12 subset: gard_rare {source="GARD:16399", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OPA12" RELATED ABBREVIATION [OMIM:618977] -synonym: "OPTIC ATROPHY 12" RELATED [OMIM:618977] +synonym: "OPA12" RELATED ABBREVIATION [] +synonym: "OPTIC ATROPHY 12" RELATED [] xref: DOID:0080840 {source="MONDO:equivalentTo"} xref: GARD:16399 {source="MONDO:GARD"} xref: MEDGEN:1720703 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512668,8 +512762,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0033550 name: obsolete high density lipoprotein cholesterol level quantitative trait locus 7 -synonym: "HDLCQ7" RELATED ABBREVIATION [OMIM:618979] -synonym: "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7" RELATED [OMIM:618979] +synonym: "HDLCQ7" RELATED ABBREVIATION [] +synonym: "HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7" RELATED [] xref: OMIM:618979 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -512677,8 +512771,8 @@ is_obsolete: true id: MONDO:0033551 name: immunodeficiency 72 with autoinflammation subset: otar {source="MONDO:OTAR"} -synonym: "IMD72" RELATED ABBREVIATION [OMIM:618982] -synonym: "IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION" RELATED [OMIM:618982] +synonym: "IMD72" RELATED ABBREVIATION [] +synonym: "IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION" RELATED [] xref: DOID:0112015 {source="MONDO:equivalentTo"} xref: MEDGEN:1749856 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618982 {source="MONDO:equivalentTo"} @@ -512691,11 +512785,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0033552 name: obsolete blood group, lewis system comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "blood group, Lewis" EXACT [OMIM:618983, OMIM:genemap2] -synonym: "BLOOD GROUP, LEWIS SYSTEM" RELATED [OMIM:618983] -synonym: "LE" RELATED ABBREVIATION [OMIM:618983] -synonym: "Lewis Blood Group System" RELATED [OMIM:618983] -synonym: "Lewis-Negative Phenotype" RELATED [OMIM:618983] +synonym: "blood group, Lewis" EXACT [] +synonym: "BLOOD GROUP, LEWIS SYSTEM" RELATED [] +synonym: "LE" RELATED ABBREVIATION [] +synonym: "Lewis Blood Group System" RELATED [] +synonym: "Lewis-Negative Phenotype" RELATED [] xref: OMIM:618983 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -512710,8 +512804,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD73B" EXACT ABBREVIATION [OMIM:618986] -synonym: "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" EXACT [OMIM:618986] +synonym: "IMD73B" EXACT ABBREVIATION [DOID:0112061, OMIM:618986] +synonym: "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" EXACT [DOID:0112061, OMIM:618986] xref: DOID:0112061 {source="MONDO:equivalentTo"} xref: MEDGEN:1740566 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618986 {source="MONDO:equivalentTo"} @@ -512730,8 +512824,8 @@ subset: gard_rare {source="GARD:18300", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMD73C" EXACT ABBREVIATION [OMIM:618987] -synonym: "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA" EXACT [OMIM:618987] +synonym: "IMD73C" EXACT ABBREVIATION [DOID:0112062, OMIM:618987] +synonym: "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA" EXACT [DOID:0112062, OMIM:618987] xref: DOID:0112062 {source="MONDO:equivalentTo"} xref: GARD:18300 {source="MONDO:GARD"} xref: MEDGEN:1734177 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512748,9 +512842,9 @@ name: muscular dystrophy-dystroglycanopathy (congenital with impaired intellectu subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MDDGB15" RELATED ABBREVIATION [OMIM:618992] -synonym: "muscular dystrophy, congenital, DPM3-related" RELATED [OMIM:618992] -synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15" RELATED [OMIM:618992] +synonym: "MDDGB15" RELATED ABBREVIATION [] +synonym: "muscular dystrophy, congenital, DPM3-related" RELATED [] +synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15" RELATED [] xref: DOID:0112376 {source="MONDO:equivalentTo"} xref: MEDGEN:1755743 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618992 {source="MONDO:equivalentTo"} @@ -512771,9 +512865,9 @@ subset: gard_rare {source="GARD:16400", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FHL6" RELATED ABBREVIATION [OMIM:618998] -synonym: "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6" RELATED [OMIM:618998] -synonym: "immune dysregulation and systemic hyperinflammation syndrome" EXACT [OMIM:618998, OMIM:genemap2] +synonym: "FHL6" RELATED ABBREVIATION [] +synonym: "HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6" RELATED [] +synonym: "immune dysregulation and systemic hyperinflammation syndrome" EXACT [OMIM:618998] xref: GARD:16400 {source="MONDO:GARD"} xref: MEDGEN:1736944 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618998 {source="MONDO:equivalentTo"} @@ -512786,9 +512880,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0033558 name: autoinflammation, immune dysregulation, and eosinophilia subset: otar {source="MONDO:OTAR"} -synonym: "AIIDE" RELATED ABBREVIATION [OMIM:618999] -synonym: "Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia" RELATED [OMIM:618999] -synonym: "AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA" RELATED [OMIM:618999] +synonym: "AIIDE" RELATED ABBREVIATION [] +synonym: "Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia" RELATED [] +synonym: "AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA" RELATED [] xref: MEDGEN:1750270 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618999 {source="MONDO:equivalentTo"} xref: UMLS:C5436572 {source="MEDGEN:1750270", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512801,8 +512895,8 @@ name: intellectual developmental disorder with seizures and language delay subset: gard_rare {source="GARD:18527", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IDDSELD" RELATED ABBREVIATION [OMIM:619000] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY" RELATED [OMIM:619000] +synonym: "IDDSELD" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY" RELATED [] xref: GARD:18527 {source="MONDO:GARD"} xref: MEDGEN:1740295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619000 {source="MONDO:equivalentTo"} @@ -512816,8 +512910,8 @@ name: mitochondrial complex 1 deficiency, nuclear type 35 subset: gard_rare {source="GARD:16401", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC1DN35" RELATED ABBREVIATION [OMIM:619003] -synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35" RELATED [OMIM:619003] +synonym: "MC1DN35" RELATED ABBREVIATION [] +synonym: "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35" RELATED [] xref: DOID:0112139 {source="MONDO:equivalentTo"} xref: GARD:16401 {source="MONDO:GARD"} xref: MEDGEN:1745427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -512829,9 +512923,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0033561 name: deeah syndrome subset: otar {source="MONDO:OTAR"} -synonym: "DEEAH" RELATED ABBREVIATION [OMIM:619004] -synonym: "DEEAH SYNDROME" RELATED [OMIM:619004] -synonym: "Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities" RELATED [OMIM:619004] +synonym: "DEEAH" RELATED ABBREVIATION [] +synonym: "DEEAH SYNDROME" RELATED [] +synonym: "Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities" RELATED [] xref: MEDGEN:1756624 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619004 {source="MONDO:equivalentTo"} xref: UMLS:C5436579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1756624"} @@ -512844,9 +512938,9 @@ name: neurodevelopmental disorder with dysmorphic facies, impaired speech, and h subset: gard_rare {source="GARD:18528", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NEDDISH" RELATED ABBREVIATION [OMIM:619005] -synonym: "neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia" EXACT [OMIM:619005, OMIM:genemap2] -synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA" RELATED [OMIM:619005] +synonym: "NEDDISH" RELATED ABBREVIATION [] +synonym: "neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia" EXACT [] +synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA" RELATED [] xref: GARD:18528 {source="MONDO:GARD"} xref: MEDGEN:1776912 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619005 {source="MONDO:equivalentTo"} @@ -512864,8 +512958,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "RETINITIS PIGMENTOSA 90" RELATED [OMIM:619007] -synonym: "RP90" RELATED ABBREVIATION [OMIM:619007] +synonym: "RETINITIS PIGMENTOSA 90" RELATED [] +synonym: "RP90" RELATED ABBREVIATION [] xref: DOID:0112147 {source="MONDO:equivalentTo"} xref: MEDGEN:1733837 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619007 {source="MONDO:equivalentTo"} @@ -512880,8 +512974,8 @@ name: oocyte maturation defect 8 subset: gard_rare {source="GARD:18498", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OOCYTE MATURATION DEFECT 8" RELATED [OMIM:619009] -synonym: "OOMD8" RELATED ABBREVIATION [OMIM:619009] +synonym: "OOCYTE MATURATION DEFECT 8" RELATED [] +synonym: "OOMD8" RELATED ABBREVIATION [] xref: GARD:18498 {source="MONDO:GARD"} xref: MEDGEN:1776094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619009 {source="MONDO:equivalentTo"} @@ -512896,8 +512990,8 @@ name: oocyte maturation defect 9 subset: gard_rare {source="GARD:18499", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "OOCYTE MATURATION DEFECT 9" RELATED [OMIM:619011] -synonym: "OOMD9" RELATED ABBREVIATION [OMIM:619011] +synonym: "OOCYTE MATURATION DEFECT 9" RELATED [] +synonym: "OOMD9" RELATED ABBREVIATION [] xref: GARD:18499 {source="MONDO:GARD"} xref: MEDGEN:1724427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619011 {source="MONDO:equivalentTo"} @@ -512912,8 +513006,8 @@ name: combined oxidative phosphorylation deficiency 48 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48" RELATED [OMIM:619012] -synonym: "COXPD48" RELATED ABBREVIATION [OMIM:619012] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48" RELATED [] +synonym: "COXPD48" RELATED ABBREVIATION [] xref: DOID:0112112 {source="MONDO:equivalentTo"} xref: MEDGEN:1732052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619012 {source="MONDO:equivalentTo"} @@ -512926,8 +513020,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0033569 name: combined oxidative phosphorylation deficiency 49 subset: otar {source="MONDO:OTAR"} -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49" RELATED [OMIM:619024] -synonym: "COXPD49" RELATED ABBREVIATION [OMIM:619024] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49" RELATED [] +synonym: "COXPD49" RELATED ABBREVIATION [] xref: DOID:0112110 {source="MONDO:equivalentTo"} xref: MEDGEN:1762338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619024 {source="MONDO:equivalentTo"} @@ -512938,8 +513032,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0033570 name: combined oxidative phosphorylation deficiency 50 subset: otar {source="MONDO:OTAR"} -synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50" RELATED [OMIM:619025] -synonym: "COXPD50" RELATED ABBREVIATION [OMIM:619025] +synonym: "COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50" RELATED [] +synonym: "COXPD50" RELATED ABBREVIATION [] xref: DOID:0112111 {source="MONDO:equivalentTo"} xref: MEDGEN:1753519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619025 {source="MONDO:equivalentTo"} @@ -512950,9 +513044,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0033571 name: obsolete skeletal muscle glycogen content and metabolism quantitative trait locus comment: Not a disease. -synonym: "Skeletal muscle glycogen content and metabolism QTL" EXACT [OMIM:619030, OMIM:genemap2] -synonym: "SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS" RELATED [OMIM:619030] -synonym: "SMGMQTL" RELATED ABBREVIATION [OMIM:619030] +synonym: "Skeletal muscle glycogen content and metabolism QTL" EXACT [] +synonym: "SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS" RELATED [] +synonym: "SMGMQTL" RELATED ABBREVIATION [] xref: OMIM:619030 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2260" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI @@ -512984,9 +513078,9 @@ subset: orphanet_rare {source="Orphanet:641353"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "cerebral palsy spastic quadriplegic" RELATED [GARD:0010447] -synonym: "cerebral palsy, spastic quadriplegic, 1" EXACT [MONDO:Lexical, OMIM:603513] -synonym: "cerebral palsy, spastic quadriplegic, type 1" EXACT [MONDORULE:1, OMIM:603513] -synonym: "CPSQ1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603513] +synonym: "cerebral palsy, spastic quadriplegic, 1" EXACT [MONDO:Lexical] +synonym: "cerebral palsy, spastic quadriplegic, type 1" EXACT [MONDORULE:1] +synonym: "CPSQ1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome" EXACT [Orphanet:641353] synonym: "NEDSWMA" EXACT ABBREVIATION [OMIM:619026] xref: GARD:10447 {source="MONDO:GARD"} @@ -513013,8 +513107,8 @@ subset: ordo_disorder {source="Orphanet:631076"} subset: orphanet_rare {source="Orphanet:631076"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "autosomal recessive spastic paraplegia type 83" EXACT [MONDO:0858988] -synonym: "SPG83" EXACT ABBREVIATION [OMIM:619027] +synonym: "autosomal recessive spastic paraplegia type 83" EXACT [MONDO:0858988, Orphanet:631076] +synonym: "SPG83" EXACT ABBREVIATION [DOID:0112346, OMIM:619027] xref: DOID:0112346 {source="MONDO:equivalentTo"} xref: MEDGEN:1759445 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619027 {source="MONDO:equivalentTo"} @@ -513032,7 +513126,7 @@ subset: gard_rare {source="GARD:16403", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COQ10D9" EXACT ABBREVIATION [OMIM:619028] +synonym: "COQ10D9" EXACT ABBREVIATION [DOID:0112138, OMIM:619028] xref: DOID:0112138 {source="MONDO:equivalentTo"} xref: GARD:16403 {source="MONDO:GARD"} xref: MEDGEN:1740444 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513076,7 +513170,7 @@ name: myofibrillar myopathy 10 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MFM10" EXACT ABBREVIATION [OMIM:619040] +synonym: "MFM10" EXACT ABBREVIATION [DOID:0112108, OMIM:619040] xref: DOID:0112108 {source="MONDO:equivalentTo"} xref: MEDGEN:1769385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619040 {source="MONDO:equivalentTo"} @@ -513102,7 +513196,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0033622 name: spermatogenic failure 44 subset: otar {source="MONDO:OTAR"} -synonym: "SPGF44" EXACT ABBREVIATION [OMIM:619044] +synonym: "SPGF44" EXACT ABBREVIATION [DOID:0112109, OMIM:619044] xref: DOID:0112109 {source="MONDO:equivalentTo"} xref: MEDGEN:1750188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619044 {source="MONDO:equivalentTo"} @@ -513120,7 +513214,7 @@ name: neurodevelopmental disorder with speech impairment and dysmorphic facies subset: gard_rare {source="GARD:18530", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NEDSID" EXACT ABBREVIATION [OMIM:619056] +synonym: "NEDSID" EXACT ABBREVIATION [DOID:0070417, OMIM:619056] xref: DOID:0070417 {source="MONDO:equivalentTo"} xref: GARD:18530 {source="MONDO:GARD"} xref: MEDGEN:1758434 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513136,7 +513230,7 @@ id: MONDO:0033631 name: combined oxidative phosphorylation deficiency 51 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "COXPD51" EXACT ABBREVIATION [OMIM:619057] +synonym: "COXPD51" EXACT ABBREVIATION [DOID:0112137, OMIM:619057] xref: DOID:0112137 {source="MONDO:equivalentTo"} xref: MEDGEN:1757992 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619057 {source="MONDO:equivalentTo"} @@ -513153,8 +513247,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 3 subset: gard_rare {source="GARD:16404", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN3" EXACT ABBREVIATION [OMIM:619046] -synonym: "mitochondrial complex IV deficiency, nuclear type 3" EXACT [OMIM:619046, OMIM:genemap2] +synonym: "MC4DN3" EXACT ABBREVIATION [DOID:0070492, OMIM:619046] +synonym: "mitochondrial complex IV deficiency, nuclear type 3" EXACT [] xref: DOID:0070492 {source="MONDO:equivalentTo"} xref: GARD:16404 {source="MONDO:GARD"} xref: MEDGEN:1764816 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513171,8 +513265,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 4 subset: gard_rare {source="GARD:16405", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN4" EXACT ABBREVIATION [OMIM:619048] -synonym: "mitochondrial complex IV deficiency, nuclear type 4" EXACT [OMIM:619048, OMIM:genemap2] +synonym: "MC4DN4" EXACT ABBREVIATION [DOID:0070493, OMIM:619048] +synonym: "mitochondrial complex IV deficiency, nuclear type 4" EXACT [] xref: DOID:0070493 {source="MONDO:equivalentTo"} xref: GARD:16405 {source="MONDO:GARD"} xref: MEDGEN:1748100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513189,8 +513283,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 7 subset: gard_rare {source="GARD:16406", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN7" EXACT ABBREVIATION [OMIM:619051] -synonym: "mitochondrial complex IV deficiency, nuclear type 7" EXACT [OMIM:619051, OMIM:genemap2] +synonym: "MC4DN7" EXACT ABBREVIATION [DOID:0070494, OMIM:619051] +synonym: "mitochondrial complex IV deficiency, nuclear type 7" EXACT [] xref: DOID:0070494 {source="MONDO:equivalentTo"} xref: GARD:16406 {source="MONDO:GARD"} xref: MEDGEN:1754683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513207,8 +513301,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 8 subset: gard_rare {source="GARD:16407", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN8" EXACT ABBREVIATION [OMIM:619052] -synonym: "mitochondrial complex IV deficiency, nuclear type 8" EXACT [OMIM:619052, OMIM:genemap2] +synonym: "MC4DN8" EXACT ABBREVIATION [DOID:0070495, OMIM:619052] +synonym: "mitochondrial complex IV deficiency, nuclear type 8" EXACT [] xref: DOID:0070495 {source="MONDO:equivalentTo"} xref: GARD:16407 {source="MONDO:GARD"} xref: MEDGEN:1765544 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513225,8 +513319,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 10 subset: gard_rare {source="GARD:16408", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN10" EXACT ABBREVIATION [OMIM:619053] -synonym: "mitochondrial complex IV deficiency, nuclear type 10" EXACT [OMIM:619053, OMIM:genemap2] +synonym: "MC4DN10" EXACT ABBREVIATION [DOID:0070496, OMIM:619053] +synonym: "mitochondrial complex IV deficiency, nuclear type 10" EXACT [] xref: DOID:0070496 {source="MONDO:equivalentTo"} xref: GARD:16408 {source="MONDO:GARD"} xref: MEDGEN:1746545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513268,9 +513362,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:544488"} subset: orphanet_rare {source="Orphanet:544488"} subset: rare -synonym: "Bachmann-Bupp syndrome" EXACT [OMIM:619075, OMIM:genemap2] -synonym: "global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome" EXACT [MONDO:0034104] -synonym: "NEDABA" EXACT ABBREVIATION [OMIM:619075] +synonym: "Bachmann-Bupp syndrome" EXACT [OMIM:619075, Orphanet:544488] +synonym: "global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome" EXACT [MONDO:0034104, Orphanet:544488] +synonym: "NEDABA" EXACT ABBREVIATION [] xref: GARD:17987 {source="MONDO:GARD"} xref: MEDGEN:1775930 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619075 {source="MONDO:equivalentTo"} @@ -513291,8 +513385,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0033643 name: inflammatory bowel disease 30 subset: otar {source="MONDO:OTAR"} -synonym: "IBD30" EXACT ABBREVIATION [OMIM:619079] -synonym: "inflammatory bowel disease (Crohn disease) 30" EXACT [OMIM:619079, OMIM:genemap2] +synonym: "IBD30" EXACT ABBREVIATION [DOID:0112154, OMIM:619079] +synonym: "inflammatory bowel disease (Crohn disease) 30" EXACT [DOID:0112154, OMIM:619079] xref: DOID:0112154 {source="MONDO:equivalentTo"} xref: MEDGEN:1737985 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619079 {source="MONDO:equivalentTo"} @@ -513321,8 +513415,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 11 subset: gard_rare {source="GARD:16409", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN11" EXACT ABBREVIATION [OMIM:619054] -synonym: "mitochondrial complex IV deficiency, nuclear type 11" EXACT [OMIM:619054, OMIM:genemap2] +synonym: "MC4DN11" EXACT ABBREVIATION [DOID:0070497, OMIM:619054] +synonym: "mitochondrial complex IV deficiency, nuclear type 11" EXACT [] xref: DOID:0070497 {source="MONDO:equivalentTo"} xref: GARD:16409 {source="MONDO:GARD"} xref: MEDGEN:1760275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513339,8 +513433,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 12 subset: gard_rare {source="GARD:16410", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN12" EXACT ABBREVIATION [OMIM:619055] -synonym: "mitochondrial complex IV deficiency, nuclear type 12" EXACT [OMIM:619055, OMIM:genemap2] +synonym: "MC4DN12" EXACT ABBREVIATION [DOID:0070498, OMIM:619055] +synonym: "mitochondrial complex IV deficiency, nuclear type 12" EXACT [] xref: DOID:0070498 {source="MONDO:equivalentTo"} xref: GARD:16410 {source="MONDO:GARD"} xref: MEDGEN:1745691 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513357,8 +513451,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 14 subset: gard_rare {source="GARD:16411", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN14" EXACT ABBREVIATION [OMIM:619058] -synonym: "mitochondrial complex IV deficiency, nuclear type 14" EXACT [OMIM:619058, OMIM:genemap2] +synonym: "MC4DN14" EXACT ABBREVIATION [DOID:0070499, OMIM:619058] +synonym: "mitochondrial complex IV deficiency, nuclear type 14" EXACT [] xref: DOID:0070499 {source="MONDO:equivalentTo"} xref: GARD:16411 {source="MONDO:GARD"} xref: MEDGEN:1763505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513374,8 +513468,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 15 subset: gard_rare {source="GARD:16412", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN15" EXACT ABBREVIATION [OMIM:619059] -synonym: "mitochondrial complex IV deficiency, nuclear type 15" EXACT [OMIM:619059, OMIM:genemap2] +synonym: "MC4DN15" EXACT ABBREVIATION [DOID:0070500, OMIM:619059] +synonym: "mitochondrial complex IV deficiency, nuclear type 15" EXACT [] xref: DOID:0070500 {source="MONDO:equivalentTo"} xref: GARD:16412 {source="MONDO:GARD"} xref: MEDGEN:1773430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513391,8 +513485,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 16 subset: gard_rare {source="GARD:16413", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN16" EXACT ABBREVIATION [OMIM:619060] -synonym: "mitochondrial complex IV deficiency, nuclear type 16" EXACT [OMIM:619060, OMIM:genemap2] +synonym: "MC4DN16" EXACT ABBREVIATION [DOID:0070501, OMIM:619060] +synonym: "mitochondrial complex IV deficiency, nuclear type 16" EXACT [] xref: DOID:0070501 {source="MONDO:equivalentTo"} xref: GARD:16413 {source="MONDO:GARD"} xref: MEDGEN:1762514 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513409,8 +513503,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 17 subset: gard_rare {source="GARD:16414", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN17" EXACT ABBREVIATION [OMIM:619061] -synonym: "mitochondrial complex IV deficiency, nuclear type 17" EXACT [OMIM:619061, OMIM:genemap2] +synonym: "MC4DN17" EXACT ABBREVIATION [DOID:0070502, OMIM:619061] +synonym: "mitochondrial complex IV deficiency, nuclear type 17" EXACT [] xref: DOID:0070502 {source="MONDO:equivalentTo"} xref: GARD:16414 {source="MONDO:GARD"} xref: MEDGEN:1730423 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513427,8 +513521,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 18 subset: gard_rare {source="GARD:16415", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN18" EXACT ABBREVIATION [OMIM:619062] -synonym: "mitochondrial complex IV deficiency, nuclear type 18" EXACT [OMIM:619062, OMIM:genemap2] +synonym: "MC4DN18" EXACT ABBREVIATION [DOID:0070503, OMIM:619062] +synonym: "mitochondrial complex IV deficiency, nuclear type 18" EXACT [] xref: DOID:0070503 {source="MONDO:equivalentTo"} xref: GARD:16415 {source="MONDO:GARD"} xref: MEDGEN:1752734 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513445,8 +513539,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 19 subset: gard_rare {source="GARD:16416", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN19" EXACT ABBREVIATION [OMIM:619063] -synonym: "mitochondrial complex IV deficiency, nuclear type 19" EXACT [OMIM:619063, OMIM:genemap2] +synonym: "MC4DN19" EXACT ABBREVIATION [DOID:0070504, OMIM:619063] +synonym: "mitochondrial complex IV deficiency, nuclear type 19" EXACT [] xref: DOID:0070504 {source="MONDO:equivalentTo"} xref: GARD:16416 {source="MONDO:GARD"} xref: MEDGEN:1729504 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513462,8 +513556,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 20 subset: gard_rare {source="GARD:16417", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN20" EXACT ABBREVIATION [OMIM:619064] -synonym: "mitochondrial complex IV deficiency, nuclear type 20" EXACT [OMIM:619064, OMIM:genemap2] +synonym: "MC4DN20" EXACT ABBREVIATION [DOID:0070505, OMIM:619064] +synonym: "mitochondrial complex IV deficiency, nuclear type 20" EXACT [] xref: DOID:0070505 {source="MONDO:equivalentTo"} xref: GARD:16417 {source="MONDO:GARD"} xref: MEDGEN:1771040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513480,8 +513574,8 @@ name: mitochondrial complex 4 deficiency, nuclear type 21 subset: gard_rare {source="GARD:16418", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "MC4DN21" EXACT ABBREVIATION [OMIM:619065] -synonym: "mitochondrial complex IV deficiency, nuclear type 21" EXACT [OMIM:619065, OMIM:genemap2] +synonym: "MC4DN21" EXACT ABBREVIATION [DOID:0070506, OMIM:619065] +synonym: "mitochondrial complex IV deficiency, nuclear type 21" EXACT [] xref: DOID:0070506 {source="MONDO:equivalentTo"} xref: GARD:16418 {source="MONDO:GARD"} xref: MEDGEN:1732562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513497,7 +513591,7 @@ name: leukodystrophy, hypomyelinating, 20 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HLD20" EXACT ABBREVIATION [OMIM:619071] +synonym: "HLD20" EXACT ABBREVIATION [DOID:0112153, OMIM:619071] xref: DOID:0112153 {source="MONDO:equivalentTo"} xref: MEDGEN:1765130 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619071 {source="MONDO:equivalentTo"} @@ -513553,8 +513647,8 @@ subset: gard_rare {source="GARD:18156", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness, autosomal dominant 78" NARROW [OMIM:619081, OMIM:genemap2] -synonym: "DFNA78" NARROW ABBREVIATION [OMIM:619081] +synonym: "deafness, autosomal dominant 78" NARROW [] +synonym: "DFNA78" NARROW ABBREVIATION [] xref: DOID:0112159 {source="MONDO:equivalentTo"} xref: GARD:18156 {source="MONDO:GARD"} xref: MEDGEN:1777362 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513586,8 +513680,8 @@ name: hearing loss, autosomal dominant 79 subset: gard_rare {source="GARD:18157", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal dominant 79" NARROW [OMIM:619086, OMIM:genemap2] -synonym: "DFNA79" NARROW ABBREVIATION [OMIM:619086] +synonym: "deafness, autosomal dominant 79" NARROW [] +synonym: "DFNA79" NARROW ABBREVIATION [] xref: DOID:0112160 {source="MONDO:equivalentTo"} xref: GARD:18157 {source="MONDO:GARD"} xref: MEDGEN:1735338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513604,7 +513698,7 @@ name: Noonan syndrome 13 subset: gard_rare {source="GARD:16419", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "NS13" EXACT ABBREVIATION [OMIM:619087] +synonym: "NS13" EXACT ABBREVIATION [DOID:0112161, NCIT:C177121, OMIM:619087] xref: DOID:0112161 {source="MONDO:equivalentTo"} xref: GARD:16419 {source="MONDO:GARD"} xref: MEDGEN:1761918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513621,8 +513715,8 @@ name: hearing loss, autosomal recessive 116 subset: gard_rare {source="GARD:22664", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "deafness, autosomal recessive 116" NARROW [OMIM:619093, OMIM:genemap2] -synonym: "DFNB116" NARROW ABBREVIATION [OMIM:619093] +synonym: "deafness, autosomal recessive 116" NARROW [] +synonym: "DFNB116" NARROW ABBREVIATION [] xref: DOID:0112162 {source="MONDO:equivalentTo"} xref: GARD:22664 {source="MONDO:GARD"} xref: MEDGEN:1726617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -513638,7 +513732,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0033671 name: spermatogenic failure 45 subset: otar {source="MONDO:OTAR"} -synonym: "SPGF45" EXACT ABBREVIATION [OMIM:619094] +synonym: "SPGF45" EXACT ABBREVIATION [DOID:0112163, OMIM:619094] xref: DOID:0112163 {source="MONDO:equivalentTo"} xref: MEDGEN:1776221 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619094 {source="MONDO:equivalentTo"} @@ -513672,7 +513766,7 @@ id: MONDO:0033673 name: spermatogenic failure 46 subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "SPGF46" EXACT ABBREVIATION [OMIM:619095] +synonym: "SPGF46" EXACT ABBREVIATION [DOID:0112164, OMIM:619095] xref: DOID:0112164 {source="MONDO:equivalentTo"} xref: MEDGEN:1726728 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619095 {source="MONDO:equivalentTo"} @@ -513945,7 +514039,7 @@ subset: ordo_disorder {source="Orphanet:522077"} subset: orphanet_rare {source="Orphanet:522077"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Baker-Gordon syndrome" EXACT [OMIM:618218, OMIM:genemap2] +synonym: "Baker-Gordon syndrome" EXACT [OMIM:618218, Orphanet:522077] xref: GARD:17962 {source="MONDO:GARD"} xref: MEDGEN:1648431 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618218 {source="MONDO:equivalentTo", source="Orphanet:522077"} @@ -514052,14 +514146,14 @@ subset: ordo_disorder {source="Orphanet:528623"} subset: orphanet_rare {source="Orphanet:528623"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "angioedema, hereditary, 1 and 2" EXACT [OMIM:106100, OMIM:genemap2] -synonym: "angioedema, hereditary, type 1" RELATED [OMIM:106100] +synonym: "angioedema, hereditary, 1 and 2" EXACT [] +synonym: "angioedema, hereditary, type 1" RELATED [] synonym: "angioedema, hereditary, type 1/2" EXACT [MONDO:0007117] -synonym: "angioedema, hereditary, type 2" RELATED [OMIM:106100] -synonym: "angioedema, hereditary, type I" RELATED [MONDO:Lexical, OMIM:106100] -synonym: "angioneurotic edema, hereditary" RELATED [OMIM:106100] -synonym: "C1 esterase inhibitor, deficiency of" RELATED [OMIM:106100] -synonym: "HAE1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:106100] +synonym: "angioedema, hereditary, type 2" RELATED [] +synonym: "angioedema, hereditary, type I" RELATED [MONDO:Lexical] +synonym: "angioneurotic edema, hereditary" RELATED [] +synonym: "C1 esterase inhibitor, deficiency of" RELATED [] +synonym: "HAE1" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0080939 {source="MONDO:equivalentTo"} xref: GARD:22194 {source="MONDO:GARD"} xref: MEDGEN:1812520 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -514217,7 +514311,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Bethlem myopathy 2" EXACT [MONDO:Lexical, OMIM:616471] synonym: "Bethlem myopathy caused by mutation in COL12A1" EXACT [MONDO:design_pattern] -synonym: "Bethlem myopathy type 2" EXACT [MONDORULE:1, OMIM:616471] +synonym: "Bethlem myopathy type 2" EXACT [MONDORULE:1] synonym: "BTHLM2" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616471] synonym: "COL12A1 Bethlem myopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "EDS, myopathic type" EXACT [OMIM:616471] @@ -514243,8 +514337,8 @@ name: obsolete kyphoscoliotic Ehlers-Danlos syndrome def: "OBSOLETE. A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP14 (formerly FKBP22), and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype." [https://orcid.org/0000-0001-5493-2602, Orphanet:536545] subset: ordo_disorder {source="Orphanet:536545"} subset: otar {source="MONDO:OTAR"} -synonym: "EDS VI" EXACT ABBREVIATION [Orphanet:536545] -synonym: "kyphoscoliotic EDS" EXACT [Orphanet:536545] +synonym: "EDS VI" EXACT ABBREVIATION [] +synonym: "kyphoscoliotic EDS" EXACT [] xref: NANDO:1200649 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NANDO:2201259 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:536545 {source="MONDO:obsoleteEquivalent"} @@ -514300,7 +514394,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:538958"} subset: orphanet_rare {source="Orphanet:538958"} subset: rare -synonym: "lymphoproliferative syndrome 3" EXACT [OMIM:618261, OMIM:genemap2] +synonym: "lymphoproliferative syndrome 3" EXACT [OMIM:618261] xref: GARD:17978 {source="MONDO:GARD"} xref: MEDGEN:1799982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618261 {source="Orphanet:538958", source="MONDO:equivalentTo"} @@ -514389,8 +514483,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:544503"} subset: orphanet_rare {source="Orphanet:544503"} subset: rare -synonym: "DEE73" EXACT ABBREVIATION [OMIM:618379] -synonym: "developmental and epileptic encephalopathy 73" EXACT [OMIM:618379, OMIM:genemap2] +synonym: "DEE73" EXACT ABBREVIATION [DOID:0112209, OMIM:618379] +synonym: "developmental and epileptic encephalopathy 73" EXACT [DOID:0112209, OMIM:618379] synonym: "epileptic encephalopathy, early infantile, 73" EXACT [OMIM:618379] synonym: "rnf13-related severe early-onset epileptic encephalopathy" EXACT [Orphanet:544503] xref: DOID:0112209 {source="MONDO:equivalentTo"} @@ -514415,7 +514509,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:544602"} subset: orphanet_rare {source="Orphanet:544602"} subset: rare -synonym: "myopathy, congenital, with fast-twitch (type II) fiber atrophy" EXACT [OMIM:618414, OMIM:genemap2] +synonym: "myopathy, congenital, with fast-twitch (type II) fiber atrophy" EXACT [OMIM:618414] synonym: "myopathy, congenital, with fast-twitch (type II) fibre atrophy" EXACT OMO:0003005 [] xref: DOID:0081346 {source="MONDO:equivalentTo"} xref: GARD:17989 {source="MONDO:GARD"} @@ -514454,8 +514548,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:555402"} subset: orphanet_rare {source="Orphanet:555402"} subset: rare -synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2" RELATED [OMIM:618321] -synonym: "PEBEL2" RELATED ABBREVIATION [OMIM:618321] +synonym: "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2" RELATED [] +synonym: "PEBEL2" RELATED ABBREVIATION [] xref: GARD:17990 {source="MONDO:GARD"} xref: MEDGEN:1681210 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618321 {source="Orphanet:555402", source="MONDO:equivalentTo"} @@ -514528,9 +514622,9 @@ subset: ordo_disorder {source="Orphanet:557003"} subset: orphanet_rare {source="Orphanet:557003"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Cataracts, Early-Onset, With Skeletal and Dental Anomalies" RELATED [OMIM:618440] -synonym: "OCSKD" RELATED ABBREVIATION [OMIM:618440] -synonym: "oculoskeletodental syndrome" RELATED [OMIM:618440] +synonym: "Cataracts, Early-Onset, With Skeletal and Dental Anomalies" RELATED [] +synonym: "OCSKD" RELATED ABBREVIATION [] +synonym: "oculoskeletodental syndrome" RELATED [] xref: GARD:17993 {source="MONDO:GARD"} xref: MEDGEN:1674537 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618440 {source="MONDO:equivalentTo"} @@ -515342,7 +515436,7 @@ subset: ordo_disorder {source="Orphanet:585867"} subset: orphanet_rare {source="Orphanet:585867"} subset: rare synonym: "acute myeloid leukaemia with t(9;22)(q34.1;q11.2)" EXACT OMO:0003005 [] -synonym: "acute myeloid leukemia with t(9;22)(q34.1;q11.2)" EXACT [] +synonym: "acute myeloid leukemia with t(9;22)(q34.1;q11.2)" EXACT [Orphanet:585867] synonym: "AML with BCR-ABL1" EXACT [Orphanet:585867] synonym: "AML with t(9;22)(q34.1;q11.2)" EXACT [Orphanet:585867] xref: DOID:0080976 {source="MONDO:equivalentTo"} @@ -515380,7 +515474,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:589542"} subset: orphanet_rare {source="Orphanet:589542"} subset: rare -synonym: "myeloid/lymphoid neoplasms with PCM1-JAK2" EXACT [Orphanet:589542] +synonym: "myeloid/lymphoid neoplasms with PCM1-JAK2" EXACT [NCIT:C129853, Orphanet:589542] xref: GARD:22355 {source="MONDO:GARD"} xref: MEDGEN:1689091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C129853 {source="MONDO:equivalentTo"} @@ -515429,9 +515523,9 @@ subset: ordo_disorder {source="Orphanet:589905"} subset: orphanet_rare {source="Orphanet:589905"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Chung-Jansen syndrome" EXACT [OMIM:617991, OMIM:genemap2] -synonym: "developmental delay, intellectual disability, obesity, and dysmorphic features" EXACT [OMIM:617991] -synonym: "DIDOD" RELATED ABBREVIATION [OMIM:617991] +synonym: "Chung-Jansen syndrome" EXACT [OMIM:617991, Orphanet:589905] +synonym: "developmental delay, intellectual disability, obesity, and dysmorphic features" EXACT [] +synonym: "DIDOD" RELATED ABBREVIATION [] xref: GARD:22367 {source="MONDO:GARD"} xref: MEDGEN:1641154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617991 {source="MONDO:equivalentTo"} @@ -515557,7 +515651,7 @@ name: obsolete PIK3CA-related overgrowth syndrome subset: ordo_group_of_disorders {source="Orphanet:530313"} subset: otar {source="MONDO:OTAR"} synonym: "PIK3CA-Related Overgrowth Spectrum" EXACT [NORD:2036] -synonym: "PROS" EXACT ABBREVIATION [Orphanet:530313] +synonym: "PROS" EXACT ABBREVIATION [] xref: Orphanet:530313 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -515756,7 +515850,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:544493"} subset: rare synonym: "S. pneumoniae-associated HUS" EXACT [Orphanet:544493] -synonym: "SP-HUS" EXACT [Orphanet:544493] +synonym: "SP-HUS" EXACT ABBREVIATION [Orphanet:544493] xref: GARD:22235 {source="MONDO:GARD"} xref: ICD10CM:D58.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:544493"} xref: MEDGEN:1842720 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -515906,7 +516000,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:529799"} subset: orphanet_rare {source="Orphanet:529799"} subset: rare -synonym: "ABE" EXACT [Orphanet:529799] +synonym: "ABE" EXACT ABBREVIATION [Orphanet:529799] synonym: "Acute kernicterus" EXACT [Orphanet:529799] xref: GARD:22197 {source="MONDO:GARD"} xref: ICD10CM:P57.8 {source="Orphanet:529799"} @@ -515926,10 +516020,10 @@ subset: ordo_disorder {source="Orphanet:529808"} subset: orphanet_rare {source="Orphanet:529808"} subset: rare synonym: "Bilirubin-induced neurological dysfunction" EXACT [Orphanet:529808] -synonym: "BIND" EXACT [Orphanet:529808] -synonym: "CBE" EXACT [Orphanet:529808] +synonym: "BIND" EXACT ABBREVIATION [Orphanet:529808] +synonym: "CBE" EXACT ABBREVIATION [Orphanet:529808] synonym: "Kernicterus spectrum disorder" EXACT [Orphanet:529808] -synonym: "KSD" EXACT [Orphanet:529808] +synonym: "KSD" EXACT ABBREVIATION [Orphanet:529808] xref: GARD:22198 {source="MONDO:GARD"} xref: ICD10CM:P57.8 {source="Orphanet:529808"} xref: MEDGEN:1806573 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -516078,7 +516172,7 @@ id: MONDO:0035398 name: obsolete hypomyelination of early myelinating structures comment: Reason: is a phenotype and not a disease. subset: ordo_disorder {source="Orphanet:599376"} -synonym: "HEMS" EXACT ABBREVIATION [Orphanet:599376] +synonym: "HEMS" EXACT ABBREVIATION [] xref: Orphanet:599376 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3544" xsd:anyURI @@ -516250,7 +516344,7 @@ subset: ordo_disorder {source="Orphanet:565612"} subset: orphanet_rare {source="Orphanet:565612"} subset: rare synonym: "Neutral lipid storage disease with severe cardiovascular involvement" EXACT [Orphanet:565612] -synonym: "TGCV" EXACT [Orphanet:565612] +synonym: "TGCV" EXACT ABBREVIATION [Orphanet:565612] xref: GARD:22267 {source="MONDO:GARD"} xref: ICD10CM:E75.5 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:565612"} xref: MEDGEN:1830096 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -516327,7 +516421,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:566192"} subset: orphanet_rare {source="Orphanet:566192"} subset: rare -synonym: "CARST" EXACT [Orphanet:566192] +synonym: "CARST" EXACT ABBREVIATION [Orphanet:566192] xref: GARD:22274 {source="MONDO:GARD"} xref: ICD10CM:D69.4 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:566192"} xref: MEDGEN:1802913 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -516872,7 +516966,7 @@ is_obsolete: true id: MONDO:0035561 name: obsolete sporadic human prion disease subset: ordo_group_of_disorders {source="Orphanet:576356"} -synonym: "idiopathic human prion disease" EXACT [Orphanet:576356] +synonym: "idiopathic human prion disease" EXACT [] xref: Orphanet:576356 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -516944,7 +517038,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:583097"} subset: orphanet_rare {source="Orphanet:583097"} subset: rare -synonym: "CIL-F" EXACT [Orphanet:583097] +synonym: "CIL-F" EXACT ABBREVIATION [Orphanet:583097] synonym: "facial infused lipomatosis" EXACT [Orphanet:583097] synonym: "fibroadipose infiltrating lipomatosis" EXACT [Orphanet:583097] xref: GARD:22333 {source="MONDO:GARD"} @@ -517023,7 +517117,7 @@ subset: gard_rare {source="GARD:22357", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:589595"} subset: rare -synonym: "MPAL with t(v;11q23.3); KMT2A rearranged" EXACT [Orphanet:589595] +synonym: "MPAL with t(v;11q23.3); KMT2A rearranged" EXACT [NCIT:C82203, Orphanet:589595] synonym: "MPAL with t(v;11q23.3); MLL rearranged" EXACT [Orphanet:589595] xref: GARD:22357 {source="MONDO:GARD"} xref: ICD10CM:C92.6 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:589595"} @@ -517259,7 +517353,7 @@ name: isolated optic neuritis without anti-MOG antibodies subset: gard_rare {source="GARD:22376", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592885] +synonym: "Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [] xref: GARD:22376 {source="MONDO:GARD"} xref: MEDGEN:1843279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:592885 {source="MONDO:equivalentObsolete"} @@ -517272,7 +517366,7 @@ name: isolated optic neuritis with anti-MOG antibodies subset: gard_rare {source="GARD:22377", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [Orphanet:592888] +synonym: "Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies" EXACT [] xref: GARD:22377 {source="MONDO:GARD"} xref: MEDGEN:1842982 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:592888 {source="MONDO:equivalentObsolete"} @@ -517323,7 +517417,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:595098"} subset: rare synonym: "LQT8 type 1" EXACT [Orphanet:595098] -synonym: "TS1" EXACT [Orphanet:595098] +synonym: "TS1" EXACT ABBREVIATION [Orphanet:595098] xref: GARD:22380 {source="MONDO:GARD"} xref: ICD10CM:I49.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:595098"} xref: MEDGEN:1802409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -517342,7 +517436,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:595105"} subset: rare synonym: "LQT8 type 2" EXACT [Orphanet:595105] -synonym: "TS2" EXACT [Orphanet:595105] +synonym: "TS2" EXACT ABBREVIATION [Orphanet:595105] xref: GARD:22381 {source="MONDO:GARD"} xref: ICD10CM:I49.8 {source="MONDO:mondoIsNarrowerThanSource", source="Orphanet:595105"} xref: MEDGEN:930016 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -517355,9 +517449,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0035682 name: obsolete fibrous dysplasia/McCune-Albright syndrome subset: ordo_group_of_disorders {source="Orphanet:595216"} -synonym: "FD/MAS spectrum" EXACT [Orphanet:595216] -synonym: "FD/MAS syndrome" EXACT [Orphanet:595216] -synonym: "Fibrous dysplasia/McCune-Albright spectrum" EXACT [Orphanet:595216] +synonym: "FD/MAS spectrum" EXACT [] +synonym: "FD/MAS syndrome" EXACT [] +synonym: "Fibrous dysplasia/McCune-Albright spectrum" EXACT [] xref: Orphanet:595216 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -517378,7 +517472,7 @@ consider: HP:0008244 id: MONDO:0035684 name: obsolete epidermolysis bullosa simplex without extracutaneous involvement subset: ordo_group_of_disorders {source="Orphanet:595346"} -synonym: "EBS without extracutaneous involvement" EXACT [Orphanet:595346] +synonym: "EBS without extracutaneous involvement" EXACT [] xref: Orphanet:595346 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -517391,7 +517485,7 @@ id: MONDO:0035685 name: obsolete epidermolysis bullosa simplex with extracutaneous involvement subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:595351"} -synonym: "EBS with extracutaneous involvement" EXACT [Orphanet:595351] +synonym: "EBS with extracutaneous involvement" EXACT [] xref: Orphanet:595351 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -517530,7 +517624,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:599485"} subset: orphanet_rare {source="Orphanet:599485"} subset: rare -synonym: "AHB" EXACT [Orphanet:599485] +synonym: "AHB" EXACT ABBREVIATION [Orphanet:599485] xref: GARD:22407 {source="MONDO:GARD"} xref: MEDGEN:98305 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:599485 {source="MONDO:equivalentTo"} @@ -517721,7 +517815,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:567983"} subset: orphanet_rare {source="Orphanet:567983"} subset: rare -synonym: "PNAC" EXACT [Orphanet:567983] +synonym: "PNAC" EXACT ABBREVIATION [Orphanet:567983] xref: GARD:22295 {source="MONDO:GARD"} xref: ICD10CM:K76.8 {source="Orphanet:567983"} xref: icd11.foundation:1572634308 {source="Orphanet:567983", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} @@ -517878,7 +517972,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:603448"} subset: orphanet_rare {source="Orphanet:603448"} subset: rare -synonym: "CIMDAG syndrome" EXACT [Orphanet:603448] +synonym: "CIMDAG syndrome" EXACT [OMIM:619273, Orphanet:603448] xref: GARD:18020 {source="MONDO:GARD"} xref: MEDGEN:1780242 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619273 {source="Orphanet:603448", source="MONDO:equivalentTo\""} @@ -518022,7 +518116,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:615970"} subset: orphanet_rare {source="Orphanet:615970"} subset: rare -synonym: "CIUE" EXACT [Orphanet:615970] +synonym: "CIUE" EXACT ABBREVIATION [Orphanet:615970] xref: GARD:22443 {source="MONDO:GARD"} xref: MEDGEN:1842235 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:615970 {source="MONDO:equivalentTo"} @@ -518088,7 +518182,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:585918"} subset: rare synonym: "B lymphoblastic leukaemia lymphoma with t(v;11q23); MLL rearranged" EXACT OMO:0003005 [] synonym: "B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged" EXACT [Orphanet:585918] -synonym: "B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged" EXACT [Orphanet:585918] +synonym: "B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged" EXACT [NCIT:C80332, Orphanet:585918] xref: GARD:22343 {source="MONDO:GARD"} xref: ICD10CM:C91.0 {source="Orphanet:585918"} xref: NCIT:C80332 {source="MONDO:equivalentTo"} @@ -518296,8 +518390,8 @@ name: retinitis pigmentosa 81 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 81" EXACT [OMIM:617871] -synonym: "RP81" RELATED ABBREVIATION [OMIM:617871] +synonym: "retinitis pigmentosa 81" EXACT [DOID:0080292, OMIM:617871] +synonym: "RP81" RELATED ABBREVIATION [] xref: DOID:0080292 {source="MONDO:equivalentTo"} xref: MEDGEN:1637738 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617871 {source="MONDO:equivalentTo", source="DOID:0080292"} @@ -518310,8 +518404,8 @@ name: short-rib thoracic dysplasia 18 with polydactyly subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "short-rib thoracic dysplasia 18 with polydactyly" EXACT [OMIM:617866] -synonym: "SRTD18" RELATED ABBREVIATION [OMIM:617866] +synonym: "short-rib thoracic dysplasia 18 with polydactyly" EXACT [DOID:0080293, OMIM:617866] +synonym: "SRTD18" RELATED ABBREVIATION [] xref: DOID:0080293 {source="MONDO:equivalentTo"} xref: MEDGEN:1632904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617866 {source="MONDO:equivalentTo", source="DOID:0080293"} @@ -518326,9 +518420,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Charcot-Marie-Tooth disease dominant intermediate G" RELATED [DOID:0080294] +synonym: "Charcot-Marie-Tooth disease dominant intermediate G" RELATED [] synonym: "Charcot-Marie-Tooth disease, dominant intermediate G" EXACT [OMIM:617882] -synonym: "CMTDIG" RELATED ABBREVIATION [OMIM:617882] +synonym: "CMTDIG" RELATED ABBREVIATION [] xref: DOID:0080294 {source="MONDO:equivalentTo"} xref: MEDGEN:1642893 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617882 {source="DOID:0080294", source="MONDO:equivalentTo"} @@ -518342,9 +518436,9 @@ id: MONDO:0036491 name: obsolete rare childhood malignant neoplasm def: "OBSOLETE. An infrequent malignant neoplasm that occurs during childhood." [NCIT:C114451] synonym: "rare childhood cancer" EXACT [] -synonym: "rare childhood malignant neoplasm" EXACT [MONDO:patterns/rare, NCIT:C114451] -synonym: "rare malignant childhood neoplasm" EXACT [NCIT:C114451] -synonym: "Rare malignant neoplasm" EXACT [NCIT:C114451] +synonym: "rare childhood malignant neoplasm" EXACT [MONDO:patterns/rare] +synonym: "rare malignant childhood neoplasm" EXACT [] +synonym: "Rare malignant neoplasm" EXACT [] xref: NCIT:C114451 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/254" xsd:anyURI is_obsolete: true @@ -518354,10 +518448,10 @@ replaced_by: MONDO:0006517 id: MONDO:0036501 name: refractory malignant neoplasm def: "A malignant neoplasm that does not respond to treatment." [NCIT:C120186] -synonym: "clinical resistance" RELATED [NCIT:C120186] +synonym: "clinical resistance" RELATED [] synonym: "refractory cancer" EXACT [NCIT:C120186] synonym: "refractory malignant neoplasm" EXACT [NCIT:C120186] -synonym: "resistant cancer" EXACT [NCIT:C120186] +synonym: "resistant cancer" EXACT [] xref: MEDGEN:146772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C120186 {source="MONDO:equivalentTo"} xref: UMLS:C0677936 {source="MEDGEN:146772", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -518440,7 +518534,7 @@ id: MONDO:0036688 name: rhabdomyoma def: "A benign mesenchymal tumor arising from skeletal or cardiac muscle." [NCIT:C3358] subset: otar {source="MONDO:OTAR"} -synonym: "rhabdomyoma" EXACT [NCIT:C3358] +synonym: "rhabdomyoma" EXACT [icd11.foundation:1253205675, NCIT:C3358] synonym: "rhabdomyoma, benign" EXACT [NCIT:C3358] synonym: "Rhabdomyomatous neoplasm" EXACT [NCIT:C3358] xref: icd11.foundation:1253205675 {source="MONDO:equivalentTo"} @@ -518619,7 +518713,7 @@ def: "A benign, circumscribed fibroepithelial neoplasm arising from the breast a synonym: "benign cystosarcoma phyllodes" EXACT [NCIT:C4274] synonym: "benign phyllodes neoplasm" EXACT [NCIT:C4274] synonym: "benign phyllodes tumor" EXACT [NCIT:C4274] -synonym: "phyllodes tumor, benign" EXACT [MONDO:patterns/benign] +synonym: "phyllodes tumor, benign" EXACT [MONDO:patterns/benign, NCIT:C4274] xref: ICDO:9020/0 {source="NCIT:C4274"} xref: MEDGEN:87254 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4274 {source="MONDO:equivalentTo"} @@ -518637,7 +518731,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "malignant cystosarcoma phyllodes" EXACT [NCIT:C4275] synonym: "malignant phyllodes neoplasm" EXACT [NCIT:C4275] synonym: "malignant phyllodes tumor" EXACT [NCIT:C4275] -synonym: "phyllodes tumor, malignant" EXACT [MONDO:patterns/malignant] +synonym: "phyllodes tumor, malignant" EXACT [MONDO:patterns/malignant, NCIT:C4275] xref: ICDO:9020/3 {source="NCIT:C4275"} xref: MEDGEN:109372 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4275 {source="MONDO:equivalentTo"} @@ -518672,7 +518766,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:85295"} subset: rare synonym: "HSD10 deficiency, atypical type" EXACT [Orphanet:85295] synonym: "Syndromic X-linked intellectual disability type 10" EXACT [Orphanet:85295] -synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" BROAD [Orphanet:85295] +synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" BROAD [] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome" BROAD OMO:0003005 [] xref: GARD:16749 {source="MONDO:GARD"} xref: ICD10CM:G25.5 {source="Orphanet:85295"} @@ -518917,7 +519011,7 @@ intersection_of: disease_has_location UBERON:0012337 ! cauda equina id: MONDO:0037739 name: benign neoplasm of cauda equina def: "A benign neoplasm that involves the cauda equina." [MONDO:patterns/location] -synonym: "benign neoplasm of cauda equina" EXACT [] +synonym: "benign neoplasm of cauda equina" EXACT [icd11.foundation:214796583] xref: icd11.foundation:214796583 {source="MONDO:equivalentTo"} xref: MEDGEN:673271 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:92047003 {source="MONDO:equivalentTo"} @@ -519279,7 +519373,7 @@ name: porphyria def: "Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS." [https://orcid.org/0000-0002-6601-2165, Wikipedia:Porphyria] comment: Represents both genetic and sporadic forms subset: otar {source="MONDO:OTAR"} -synonym: "porphyria" EXACT [] +synonym: "porphyria" EXACT [NCIT:C97096] xref: MEDGEN:1844832 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D011164 {source="MONDO:equivalentTo"} xref: NANDO:1200811 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -519328,10 +519422,10 @@ subset: gard_rare {source="GARD:22577", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "glycosylphosphatidylinositol biosynthesis defect 16" EXACT [OMIM:617816] -synonym: "GPIBD16" RELATED ABBREVIATION [OMIM:617816] -synonym: "intellectual disability, autosomal recessive 62" RELATED [OMIM:617816] -synonym: "mental retardation, autosomal recessive 62" RELATED DEPRECATED [OMIM:617816] +synonym: "glycosylphosphatidylinositol biosynthesis defect 16" EXACT [DOID:0081223, OMIM:617816] +synonym: "GPIBD16" RELATED ABBREVIATION [] +synonym: "intellectual disability, autosomal recessive 62" RELATED [] +synonym: "mental retardation, autosomal recessive 62" RELATED DEPRECATED [] xref: DOID:0081223 {source="MONDO:equivalentTo"} xref: GARD:22577 {source="MONDO:GARD"} xref: MEDGEN:1628197 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -519347,11 +519441,11 @@ id: MONDO:0040501 name: ehlers-danlos syndrome, arthrochalasia type, 2 subset: gard_rare {source="GARD:16256", source="MONDO:GARD"} subset: rare -synonym: "EDS 7B" RELATED [OMIM:617821] +synonym: "EDS 7B" RELATED [] synonym: "EDS VIIB" RELATED [] -synonym: "EDSARTH2" RELATED ABBREVIATION [OMIM:617821] -synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 2" RELATED [OMIM:617821] -synonym: "Ehlers-Danlos syndrome, type VIIb, Autosomal dominant" RELATED [OMIM:617821] +synonym: "EDSARTH2" RELATED ABBREVIATION [] +synonym: "Ehlers-Danlos syndrome, arthrochalasia type, 2" RELATED [] +synonym: "Ehlers-Danlos syndrome, type VIIb, Autosomal dominant" RELATED [] xref: DOID:0080728 {source="MONDO:equivalentTo"} xref: GARD:16256 {source="MONDO:GARD"} xref: OMIM:617821 {source="MONDO:equivalentTo"} @@ -519366,7 +519460,7 @@ name: glucocorticoid deficiency 5 subset: gard_rare {source="GARD:16257", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "GCCD5" RELATED ABBREVIATION [OMIM:617825] +synonym: "GCCD5" RELATED ABBREVIATION [] synonym: "glucocorticoid deficiency 5" EXACT [OMIM:617825] xref: GARD:16257 {source="MONDO:GARD"} xref: MEDGEN:1614419 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -519382,9 +519476,9 @@ def: "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is subset: gard_rare {source="GARD:16244", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BCDS2" RELATED ABBREVIATION [OMIM:617681] +synonym: "BCDS2" RELATED ABBREVIATION [] synonym: "blepharo-cheilo-odontic syndrome caused by mutation in CTNND1" EXACT [] -synonym: "BLEPHAROCHEILODONTIC syndrome 2" RELATED [OMIM:617681] +synonym: "BLEPHAROCHEILODONTIC syndrome 2" RELATED [] synonym: "CTNND1 blepharo-cheilo-odontic syndrome" EXACT [MONDO:patterns/disease_series_by_gene] xref: DOID:0080346 {source="MONDO:equivalentTo"} xref: GARD:16244 {source="MONDO:GARD"} @@ -519457,10 +519551,10 @@ name: class V glucose-6-phosphate dehydrogenase deficiency comment: Editor note: TODO, see PMID:2633878 subset: inferred_rare subset: rare -synonym: "favism" RELATED [Orphanet:362] +synonym: "favism" RELATED [] synonym: "G6PD class V variant anaemia" EXACT OMO:0003005 [] synonym: "G6PD class V variant anemia" EXACT [] -synonym: "G6PD deficiency" BROAD [Orphanet:362] +synonym: "G6PD deficiency" BROAD [] synonym: "glucose-6-phosphate dehydrogenase deficiency class V variant anaemia" EXACT OMO:0003005 [] synonym: "glucose-6-phosphate dehydrogenase deficiency class V variant anemia" EXACT [] xref: MEDGEN:543772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -519564,9 +519658,9 @@ def: "A malignant neoplasm derived from the transitional epithelium of the urina subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "transitional cell car. -uroth." EXACT [NCIT:C4030] +synonym: "transitional cell car. -uroth." EXACT [] synonym: "transitional cell carcinoma of the urinary tract" EXACT [NCIT:C4030] -synonym: "transitional cell carcinoma of the urothelial tract" EXACT [NCIT:C4030] +synonym: "transitional cell carcinoma of the urothelial tract" EXACT [] synonym: "Uroepithelial carcinoma" EXACT [NCIT:C4030] synonym: "urothelial carcinoma" EXACT [NCIT:C4030] xref: EFO:0008528 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -519706,7 +519800,7 @@ property_value: IAO:0006012 "2024-09-01" xsd:string [Term] id: MONDO:0040922 name: latent early syphilis -synonym: "latent early syphilis" EXACT [] +synonym: "latent early syphilis" EXACT [icd11.foundation:1768103550] xref: icd11.foundation:1768103550 {source="MONDO:equivalentTo"} xref: MEDGEN:546880 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:186867005 {source="MONDO:equivalentTo"} @@ -519717,7 +519811,7 @@ is_a: MONDO:0005822 ! latent syphilis id: MONDO:0040923 name: late latent syphilis def: "Latent syphilis when infection was acquired more than twelve months previously." [NCIT:C128371] -synonym: "late latent syphilis" EXACT [] +synonym: "late latent syphilis" EXACT [NCIT:C128371] xref: MEDGEN:687555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C128371 {source="MONDO:equivalentTo"} xref: SCTID:186903006 {source="MONDO:equivalentTo"} @@ -519731,7 +519825,7 @@ name: latent yaws subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "latent yaws" EXACT [] +synonym: "latent yaws" EXACT [icd11.foundation:247169608] xref: icd11.foundation:247169608 {source="MONDO:equivalentTo"} xref: MEDGEN:509217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:186973005 {source="MONDO:equivalentTo"} @@ -519776,7 +519870,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "PHN - post-herpetic neuralgia" RELATED [] synonym: "post-zoster neuralgia" RELATED [] -synonym: "postherpetic neuralgia" EXACT [] +synonym: "postherpetic neuralgia" EXACT [icd11.foundation:1797210650] xref: icd11.foundation:1797210650 {source="MONDO:equivalentTo"} xref: MEDGEN:18589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:466673 {source="MONDO:equivalentObsolete"} @@ -519856,8 +519950,8 @@ id: MONDO:0041161 name: obsolete endometrial hyperplasia def: "OBSOLETE. A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia)." [NCIT:C3013] synonym: "endometrial hyperplasia" EXACT [] -synonym: "hyperplasia of endometrium" EXACT [NCIT:C3013] -synonym: "hyperplasia of the endometrium" EXACT [NCIT:C3013] +synonym: "hyperplasia of endometrium" EXACT [] +synonym: "hyperplasia of the endometrium" EXACT [] xref: DOID:0080365 {source="MONDO:obsoleteEquivalent"} xref: HP:0040298 {source="MONDO:otherHierarchy"} xref: MESH:D004714 {source="https://orcid.org/0000-0003-1967-3726", source="MONDO:obsoleteEquivalent"} @@ -519887,9 +519981,9 @@ name: polymorphic light eruption subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "polymorphic light eruption" EXACT [] +synonym: "polymorphic light eruption" EXACT [icd11.foundation:1883086071] synonym: "polymorphic photodermatitis" RELATED [] -synonym: "polymorphous light eruption" EXACT [] +synonym: "polymorphous light eruption" EXACT [icd11.foundation:1883086071] xref: icd11.foundation:1883086071 {source="MONDO:equivalentTo"} xref: MEDGEN:508043 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:238525001 {source="MONDO:equivalentTo"} @@ -519921,7 +520015,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Corynebacterium diphtheriae caused myocarditis" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Corynebacterium diphtheriae myocarditis" EXACT [] -synonym: "diphtheritic myocarditis" EXACT [] +synonym: "diphtheritic myocarditis" EXACT [icd11.foundation:1165221541] xref: icd11.foundation:1165221541 {source="MONDO:equivalentTo"} xref: MEDGEN:509091 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:26117009 {source="MONDO:equivalentTo"} @@ -519981,7 +520075,7 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0041366 name: acute epiglottitis def: "Acute form of epiglottitis." [MONDO:patterns/acute] -synonym: "acute epiglottitis" EXACT [] +synonym: "acute epiglottitis" EXACT [icd11.foundation:1070805666] synonym: "acute epiglottitis and supraglottitis" RELATED [] synonym: "epiglottitis, acute" EXACT [MONDO:design_pattern, MONDO:patterns/acute] xref: icd11.foundation:1070805666 {source="MONDO:equivalentTo"} @@ -520106,7 +520200,7 @@ def: "A lepromatous form of leprosy that is characterized by numerous infiltrate subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "lepromatous leprosy" RELATED [https://orcid.org/0000-0002-6601-2165, PMID:27219008] -synonym: "multibacillary leprosy" EXACT [] +synonym: "multibacillary leprosy" EXACT [icd11.foundation:1123804548] xref: icd11.foundation:1123804548 {source="MONDO:equivalentTo"} xref: MEDGEN:288329 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D056006 {source="MONDO:equivalentTo"} @@ -520121,7 +520215,7 @@ name: paucibacillary leprosy def: "A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response." [https://orcid.org/0000-0002-6601-2165, PMID:27219008] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "paucibacillary leprosy" EXACT [] +synonym: "paucibacillary leprosy" EXACT [icd11.foundation:1800264981] synonym: "tuberculoid leprosy" RELATED [https://orcid.org/0000-0002-6601-2165, PMID:27219008] xref: icd11.foundation:1800264981 {source="MONDO:equivalentTo"} xref: MEDGEN:288331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -520220,7 +520314,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:1280 ! Staphylococcus au id: MONDO:0041903 name: gonococcal infection of joint synonym: "gonococcal arthritis" RELATED [] -synonym: "gonococcal infection of joint" EXACT [] +synonym: "gonococcal infection of joint" EXACT [icd11.foundation:1787713905] synonym: "gonococcal joint infection" RELATED [] synonym: "gonococcal rheumatism" RELATED [] xref: icd11.foundation:1787713905 {source="MONDO:equivalentTo"} @@ -520260,7 +520354,7 @@ name: disseminated candidiasis def: "Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes." [Wikipedia:Candidiasis] subset: otar {source="MONDO:OTAR"} synonym: "disseminated candida" RELATED [] -synonym: "disseminated candidiasis" EXACT [] +synonym: "disseminated candidiasis" EXACT [NCIT:C116812] synonym: "disseminated candidosis" RELATED [] synonym: "invasive candidiasis" RELATED [] synonym: "systemic candida infections" RELATED [GARD:0001076] @@ -520307,7 +520401,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:4751 ! Fungi id: MONDO:0042451 name: endomyometritis def: "An inflammation of the endometrium and the myometrium." [ISBN-13:978-0-7817-5532-0, Wikipedia:Endometritis#cite_note-isbn0-7817-5532-8-2] -synonym: "endomyometritis" EXACT [] +synonym: "endomyometritis" EXACT [icd11.foundation:229826357] xref: icd11.foundation:229826357 {source="MONDO:equivalentTo"} xref: MEDGEN:75710 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:88027004 {source="MONDO:equivalentTo"} @@ -520357,7 +520451,7 @@ name: disseminated sporotrichosis subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "disseminated sporotrichosis" EXACT [] +synonym: "disseminated sporotrichosis" EXACT [icd11.foundation:984175752] xref: icd11.foundation:984175752 {source="MONDO:equivalentTo"} xref: MEDGEN:547522 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:91051003 {source="MONDO:equivalentTo"} @@ -520372,7 +520466,7 @@ name: infective arthritis def: "The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." [NCIT:C26700] subset: otar {source="MONDO:OTAR"} synonym: "infective arthritis" EXACT [NCIT:C26700] -synonym: "septic arthritis" RELATED [NCIT:C26700] +synonym: "septic arthritis" RELATED [] xref: MEDGEN:13918 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C26700 {source="MONDO:equivalentTo"} xref: UMLS:C0003869 {source="MEDGEN:13918", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -520387,12 +520481,12 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: predisposition subset: rare -synonym: "chromosome 15Q13-q14 Duplication syndrome, 40-Kb" RELATED [OMIM:601228] -synonym: "colorectal adenoma and carcinoma 1" RELATED [OMIM:601228] -synonym: "colorectal cancer, susceptibility to, 4" RELATED [OMIM:601228] -synonym: "colorectal cancer, susceptibility to, on chromosome 15" RELATED [OMIM:601228] -synonym: "HMPS1" RELATED ABBREVIATION [OMIM:601228] -synonym: "polyposis syndrome, hereditary mixed 1" EXACT [OMIM:601228, OMIM:genemap2] +synonym: "chromosome 15Q13-q14 Duplication syndrome, 40-Kb" RELATED [] +synonym: "colorectal adenoma and carcinoma 1" RELATED [] +synonym: "colorectal cancer, susceptibility to, 4" RELATED [] +synonym: "colorectal cancer, susceptibility to, on chromosome 15" RELATED [] +synonym: "HMPS1" RELATED ABBREVIATION [] +synonym: "polyposis syndrome, hereditary mixed 1" EXACT [] synonym: "polyposis syndrome, hereditary mixed, 1" EXACT CLINGEN_LABEL [OMIM:601228] xref: DOID:0111685 {source="MONDO:equivalentTo"} xref: MEDGEN:331320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -520425,13 +520519,13 @@ synonym: "cervix Ca in situ" EXACT [DOID:8991] synonym: "cervix carcinoma in situ aJCC v6" EXACT [NCIT:C4000] synonym: "cervix intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "cervix Severe dysplasia aJCC v6" EXACT [NCIT:C4000] -synonym: "cervix uteri carcinoma in situ" RELATED [DOID:8991] +synonym: "cervix uteri carcinoma in situ" RELATED [] synonym: "cervix uteri carcinoma in situ aJCC v6" EXACT [NCIT:C4000] synonym: "cervix uteri intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "cervix uteri Severe dysplasia aJCC v6" EXACT [NCIT:C4000] synonym: "CIN 3 aJCC v6" EXACT [NCIT:C4000] synonym: "CIN grade 3 aJCC v6" EXACT [NCIT:C4000] -synonym: "CIN III" EXACT [DOID:8991] +synonym: "CIN III" EXACT ABBREVIATION [DOID:8991] synonym: "CIN III - carcinoma in situ of cervix" EXACT [DOID:8991] synonym: "CIN III - severe dyskaryosis" EXACT [DOID:8991] synonym: "FIGO stage 0 carcinoma of cervix" EXACT [NCIT:C4000] @@ -520456,7 +520550,7 @@ synonym: "severe dysplasia of cervix" EXACT [DOID:8991] synonym: "severe dysplasia of cervix aJCC v6" EXACT [NCIT:C4000] synonym: "severe dysplasia of cervix uteri aJCC v6" EXACT [NCIT:C4000] synonym: "severe dysplasia of the cervix aJCC v6" EXACT [NCIT:C4000] -synonym: "severe dysplasia of the cervix uteri" RELATED EXCLUDE [DOID:8991] +synonym: "severe dysplasia of the cervix uteri" RELATED EXCLUDE [] synonym: "severe dysplasia of the cervix uteri aJCC v6" EXACT [NCIT:C4000] synonym: "severe dysplasia of the uterine cervix aJCC v6" EXACT [NCIT:C4000] synonym: "severe dysplasia of uterine cervix aJCC v6" EXACT [NCIT:C4000] @@ -520552,9 +520646,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "neutropenia, severe congenital 1, autosomal dominant" EXACT [OMIM:202700, OMIM:genemap2] -synonym: "neutropenia, severe congenital, 1, autosomal dominant" EXACT [MESH:C565969] -synonym: "SCN1" RELATED ABBREVIATION [MESH:C565969, OMIM:202700] +synonym: "neutropenia, severe congenital 1, autosomal dominant" EXACT [] +synonym: "neutropenia, severe congenital, 1, autosomal dominant" EXACT [MESH:C565969, OMIM:202700] +synonym: "SCN1" RELATED ABBREVIATION [MESH:C565969] xref: DOID:0080625 {source="MONDO:equivalentTo"} xref: MEDGEN:348506 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565969 {source="MONDO:equivalentTo"} @@ -520678,7 +520772,7 @@ name: ergotism def: "Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine." [MESH:D004881] synonym: "ergot poisoning" RELATED [MESH:D004881] synonym: "ergot poisonings" RELATED [MESH:D004881] -synonym: "ergotism" EXACT [GARD:0000196] +synonym: "ergotism" EXACT [GARD:0000196, icd11.foundation:1013848192] synonym: "ergotisms" RELATED [MESH:D004881] synonym: "fire, St. Anthonys" RELATED [MESH:D004881] synonym: "poisoning, ergot" RELATED [MESH:D004881] @@ -520739,9 +520833,9 @@ synonym: "benign familial infantile convulsions syndrome 1" RELATED [] synonym: "benign infantile familial convulsions" RELATED [GARD:0000856] synonym: "benign infantile familial convulsions 1" RELATED [] synonym: "BFIC1" RELATED ABBREVIATION [GARD:0000856] -synonym: "BFIS1" RELATED ABBREVIATION [GARD:0000856, OMIM:601764] -synonym: "convulsions, benign familial infantile, 1" RELATED [OMIM:601764] -synonym: "seizures, benign familial infantile, 1" RELATED [GARD:0000856, OMIM:601764] +synonym: "BFIS1" RELATED ABBREVIATION [GARD:0000856] +synonym: "convulsions, benign familial infantile, 1" RELATED [] +synonym: "seizures, benign familial infantile, 1" RELATED [GARD:0000856] xref: DOID:0081114 {source="MONDO:equivalentTo"} xref: GARD:856 {source="MONDO:GARD"} xref: MEDGEN:1638448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -520857,7 +520951,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:494421"} subset: rare synonym: "pre-sacral teratoma" EXACT [NCIT:C99055] synonym: "presacral teratoma" EXACT [NCIT:C99055] -synonym: "sacrococcygeal teratoma" EXACT [NCIT:C99055] +synonym: "sacrococcygeal teratoma" EXACT [NCIT:C99055, Orphanet:494421] xref: GARD:319 {source="MONDO:GARD"} xref: HP:0030736 {source="MONDO:otherHierarchy"} xref: MEDGEN:107852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -521230,10 +521324,10 @@ name: trichoepithelioma, multiple familial, 1 subset: gard_rare {source="GARD:5262", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Brooke-Fordyce Trichoepitheliomas" RELATED [OMIM:601606] -synonym: "epithelioma adenoides cysticum of Brooke" RELATED [OMIM:601606] -synonym: "epithelioma, hereditary multiple benign cystic" RELATED [OMIM:601606] -synonym: "MFT1" RELATED ABBREVIATION [GARD:0005262, OMIM:601606] +synonym: "Brooke-Fordyce Trichoepitheliomas" RELATED [] +synonym: "epithelioma adenoides cysticum of Brooke" RELATED [] +synonym: "epithelioma, hereditary multiple benign cystic" RELATED [] +synonym: "MFT1" RELATED ABBREVIATION [GARD:0005262] synonym: "multiple familial trichoepithelioma 1" RELATED [GARD:0005262] synonym: "trichoepithelioma multiple familial 1" RELATED [GARD:0005262] synonym: "trichoepithelioma, multiple familial, 1" EXACT [OMIM:601606] @@ -521251,7 +521345,7 @@ name: hypokalemic periodic paralysis, type 1 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HOKPP1" RELATED ABBREVIATION [OMIM:170400] +synonym: "HOKPP1" RELATED ABBREVIATION [] synonym: "hypokalemic periodic paralysis, type 1" EXACT [OMIM:170400] xref: MEDGEN:811387 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:170400 {source="MONDO:equivalentTo"} @@ -521290,10 +521384,10 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "aortic stenosis" EXACT [DOID:1712, GARD:0005830, MONDO:0004978] -synonym: "AS" EXACT ABBREVIATION [DOID:1712] -synonym: "congenital aortic valve stenosis" RELATED EXCLUDE [DOID:1712] -synonym: "rheumatic aortic stenosis" NARROW [DOID:1712, ICD9CM:395.0] -synonym: "rheumatic aortic valve stenosis" NARROW [DOID:1712] +synonym: "AS" EXACT ABBREVIATION [] +synonym: "congenital aortic valve stenosis" RELATED EXCLUDE [] +synonym: "rheumatic aortic stenosis" NARROW [ICD9CM:395.0] +synonym: "rheumatic aortic valve stenosis" NARROW [] synonym: "stenosed aortic valve" RELATED [] synonym: "valvular aortic stenosis" RELATED [GARD:0005830] xref: DOID:1712 {source="EFO:0000266", source="MONDO:equivalentTo"} @@ -521335,7 +521429,7 @@ subset: otar {source="MONDO:OTAR"} subset: predisposition synonym: "GATA2 deficiency" EXACT [GARD:0013373, NCIT:C126349] synonym: "GATA2 deficiency with susceptibility to MDS/AML" EXACT CLINGEN_LABEL [] -synonym: "GATA2 deficiency/MonoMac syndrome" NARROW [NCIT:C126349] +synonym: "GATA2 deficiency/MonoMac syndrome" NARROW [] xref: NCIT:C126349 {source="MONDO:equivalentTo"} is_a: MONDO:0005046 ! immune system disorder is_a: MONDO:0021094 {source="NCIT:C126349"} ! immunodeficiency disease @@ -521349,7 +521443,7 @@ comment: A number of genetic and acquired diseases come in this category and may subset: otar {source="MONDO:OTAR"} synonym: "neurocutaneous disorder" RELATED [MESH:D020752] synonym: "neurocutaneous disorders" RELATED [MESH:D020752] -synonym: "neurocutaneous syndrome" EXACT [MESH:D020752] +synonym: "neurocutaneous syndrome" EXACT [MESH:D020752, NCIT:C84348] synonym: "neuroectodermal dysplasia" RELATED [] synonym: "neuroectodermal dysplasia syndrome" RELATED [MESH:D020752] synonym: "neuroectodermal dysplasia syndromes" RELATED [MESH:D020752] @@ -521376,7 +521470,7 @@ id: MONDO:0043003 name: familial acanthosis nigricans def: "An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: otar {source="MONDO:OTAR"} -synonym: "acanthosis nigricans" RELATED [OMIM:100600] +synonym: "acanthosis nigricans" RELATED [] synonym: "hereditary acanthosis nigricans (disease)" EXACT [MONDO:patterns/hereditary] xref: MEDGEN:419638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C531598 {source="MONDO:equivalentTo"} @@ -521427,8 +521521,8 @@ consider: MONDO:0021147 id: MONDO:0043007 name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome def: "OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] -synonym: "genetic MCA/variable MR" EXACT [Orphanet:330197] -synonym: "genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome" EXACT [Orphanet:330197] +synonym: "genetic MCA/variable MR" EXACT [] +synonym: "genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome" EXACT [] synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome" EXACT [MONDO:patterns/hereditary] xref: Orphanet:330197 {source="MONDO:obsoleteEquivalentObsolete"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} @@ -521442,8 +521536,8 @@ id: MONDO:0043008 name: obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability def: "OBSOLETE. An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome." [MONDO:patterns/hereditary] subset: ordo_group_of_disorders {source="Orphanet:330206"} -synonym: "genetic MCA" EXACT [Orphanet:330206] -synonym: "genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)" EXACT [Orphanet:330206] +synonym: "genetic MCA" EXACT [] +synonym: "genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)" EXACT [] synonym: "hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability" EXACT [MONDO:patterns/hereditary] xref: Orphanet:330206 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGroupingOriginGenetic", source="MONDO:excludeGroupingPhenotype"} @@ -521460,7 +521554,7 @@ subset: disease_grouping subset: gard_rare {source="GARD:21947", source="MONDO:GARD"} subset: ordo_group_of_disorders {source="Orphanet:471383"} subset: rare -synonym: "genetic lethal multiple congenital anomalies/dysmorphic syndrome" EXACT [MONDO:patterns/hereditary] +synonym: "genetic lethal multiple congenital anomalies/dysmorphic syndrome" EXACT [MONDO:patterns/hereditary, Orphanet:471383] xref: GARD:21947 {source="MONDO:GARD"} xref: MEDGEN:1843298 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:471383 {source="MONDO:equivalentTo"} @@ -521603,7 +521697,7 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1101"} subset: rare synonym: "acute multifocal placoid pigment epitheliopathy" RELATED [GARD:0002183] synonym: "acute placoid pigment epitheliopathy" RELATED [GARD:0002183] -synonym: "acute posterior multifocal placoid pigment epitheliopathy" EXACT [] +synonym: "acute posterior multifocal placoid pigment epitheliopathy" EXACT [icd11.foundation:2036282532] synonym: "AMPPE" RELATED ABBREVIATION [GARD:0002183] synonym: "amppe - acute multifocal placoid pigment epitheliopathy" RELATED [] synonym: "APMPPE" RELATED ABBREVIATION [GARD:0002183] @@ -521692,7 +521786,7 @@ subset: rare synonym: "hypothyroidism due to iodide concentration defect" RELATED [] synonym: "hypothyroidism due to iodide transport defect" EXACT [] synonym: "iodide Transport defect" EXACT [NCIT:C121747] -synonym: "iodide transport defect" EXACT [] +synonym: "iodide transport defect" EXACT [NCIT:C121747] synonym: "iodide transport failure" RELATED [] synonym: "iodine accumulation defect" RELATED [] synonym: "iodine transport defect" RELATED [] @@ -522189,7 +522283,7 @@ id: MONDO:0043206 name: trichostasis spinulosa def: "Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown." [GARD:0005269] synonym: "elevated dark spiny papules on the face or trunk" RELATED [GARD:0005269] -synonym: "trichostasis spinulosa" EXACT [] +synonym: "trichostasis spinulosa" EXACT [icd11.foundation:509265047] xref: icd11.foundation:509265047 {source="MONDO:equivalentTo"} xref: MEDGEN:82669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536558 {source="MONDO:equivalentTo"} @@ -522224,7 +522318,7 @@ comment: This groups multiple types, including those restricted to the eyes, the subset: gard_rare {source="GARD:5768", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "albinism" EXACT [NCIT:C84543] +synonym: "albinism" EXACT [ICD10CM:E70.3, NCIT:C84543] xref: GARD:5768 {source="MONDO:GARD"} xref: ICD10CM:E70.3 {source="MONDO:equivalentTo"} xref: MEDGEN:182 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -522297,7 +522391,7 @@ synonym: "Dementias, Multiinfarct" RELATED [MESH:D015161] synonym: "lacunar dementia" RELATED [MESH:D015161] synonym: "lacunar Dementias" RELATED [MESH:D015161] synonym: "multi infarct dementia" EXACT [NCIT:C34522] -synonym: "multi-infarct dementia" EXACT [GARD:0005925, MESH:D015161, NCIT:C34522] +synonym: "multi-infarct dementia" EXACT [GARD:0005925, icd11.foundation:645643099, MESH:D015161, NCIT:C34522] synonym: "multi-infarct Dementias" RELATED [MESH:D015161] synonym: "multi-infarct, dementia" RELATED [MESH:D015161] synonym: "multi-infarcts, dementia" RELATED [MESH:D015161] @@ -522369,7 +522463,7 @@ synonym: "dermatitis exfoliativa" RELATED [MESH:D003873] synonym: "erythroderma" RELATED [MESH:D003873] synonym: "Erythrodermas" RELATED [MESH:D003873] synonym: "exfoliative Dermatitides" RELATED [MESH:D003873] -synonym: "exfoliative dermatitis" EXACT [MESH:D003873] +synonym: "exfoliative dermatitis" EXACT [MESH:D003873, NCIT:C39646] xref: EFO:0009456 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:3767 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D003873 {source="MONDO:equivalentTo"} @@ -522385,7 +522479,7 @@ def: "Painful sensations in the tongue, including a sensation of burning." [MESH subset: otar {source="MONDO:OTAR"} synonym: "glossalgia" RELATED [] synonym: "Glossalgias" RELATED [MESH:D005926] -synonym: "glossodynia" EXACT [MESH:D005926] +synonym: "glossodynia" EXACT [icd11.foundation:1755751917, MESH:D005926] synonym: "Glossodynias" RELATED [MESH:D005926] synonym: "Glossopyroses" RELATED [MESH:D005926] synonym: "glossopyrosis" RELATED [MESH:D005926] @@ -522510,7 +522604,7 @@ id: MONDO:0043254 name: papular urticaria synonym: "bullous papular urticaria - type" RELATED [GARD:0007322, MESH:C537169] synonym: "lichen urticatus" RELATED [] -synonym: "papular urticaria" EXACT [] +synonym: "papular urticaria" EXACT [icd11.foundation:1014677494] synonym: "prurigo simplex" EXACT [] synonym: "strophulus" RELATED [] synonym: "urticaria papulosa of hebra" RELATED [] @@ -522532,7 +522626,7 @@ subset: rare synonym: "amendola's syndrome" RELATED [] synonym: "Brazilian pemphigus" RELATED [GARD:0007353, MESH:C535551] synonym: "Brazilian pemphigus foliaceus" EXACT [GARD:0007353, MESH:C535551] -synonym: "endemic pemphigus foliaceus" RELATED [GARD:0007353, MESH:C535551, Orphanet:636955] +synonym: "endemic pemphigus foliaceus" RELATED [GARD:0007353, MESH:C535551] synonym: "fogo selvagem" RELATED [] synonym: "FS" RELATED ABBREVIATION [GARD:0007353] synonym: "South American pemphigus" RELATED [GARD:0007353, MESH:C535551] @@ -522603,7 +522697,7 @@ subset: gard_rare {source="GARD:7577", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "rheumatoid Vasculitides" RELATED [MESH:D056653] -synonym: "rheumatoid vasculitis" EXACT [] +synonym: "rheumatoid vasculitis" EXACT [icd11.foundation:1398254566] synonym: "Vasculitides, rheumatoid" RELATED [MESH:D056653] synonym: "vasculitis, rheumatoid" RELATED [MESH:D056653] xref: GARD:7577 {source="MONDO:GARD"} @@ -522622,8 +522716,8 @@ id: MONDO:0043275 name: TORCH syndrome def: "A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly." [NCIT:C98609] synonym: "TORCH infection" EXACT [NCIT:C98609] -synonym: "TORCH syndrome" EXACT [NCIT:C98609] -synonym: "torch syndrome" EXACT [] +synonym: "TORCH syndrome" EXACT [DOID:0080835, NCIT:C98609] +synonym: "torch syndrome" EXACT [DOID:0080835, NCIT:C98609] synonym: "Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection" RELATED [] synonym: "toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome" EXACT [NCIT:C98609] synonym: "toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome" RELATED [] @@ -522644,7 +522738,7 @@ comment: Editor notes: TODO DPs for partial/complete/mosaic subset: gard_rare {source="GARD:7815", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "trisomy 6" RELATED [NCIT:C36475] +synonym: "trisomy 6" RELATED [] synonym: "trisomy 6 mosaicism" RELATED [GARD:0007815] xref: GARD:7815 {source="MONDO:GARD"} xref: MEDGEN:96603 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -522679,8 +522773,8 @@ subset: rare synonym: "hematite miners' lung disease" RELATED [] synonym: "hematite pneumoconiosis" RELATED [GARD:0008372, MESH:C537337] synonym: "iron miners lung" RELATED [GARD:0008372, MESH:C537337] -synonym: "siderosilicosis" EXACT [] -synonym: "silicosiderosis" EXACT [] +synonym: "siderosilicosis" EXACT [icd11.foundation:273225437] +synonym: "silicosiderosis" EXACT [icd11.foundation:273225437] xref: GARD:8372 {source="MONDO:GARD"} xref: icd11.foundation:273225437 {source="MONDO:equivalentTo"} xref: MEDGEN:5480 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -522734,7 +522828,7 @@ synonym: "en coup de saber" RELATED [GARD:0009513] synonym: "en coup de sabre" RELATED OMO:0003005 [] synonym: "linear morphea" RELATED [] synonym: "linear Scleroderma" EXACT [NCIT:C116780] -synonym: "linear scleroderma" EXACT [] +synonym: "linear scleroderma" EXACT [NCIT:C116780] synonym: "Scleroderma, linear" RELATED [GARD:0009513] xref: GARD:9513 {source="MONDO:GARD"} xref: MEDGEN:75518 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -522763,7 +522857,7 @@ intersection_of: disease_has_infectious_agent NCBITaxon:672 ! Vibrio vulnificus [Term] id: MONDO:0043300 name: actinic cheilitis -synonym: "actinic cheilitis" EXACT [] +synonym: "actinic cheilitis" EXACT [icd11.foundation:436658980, NCIT:C183562] synonym: "actinic cheilosis" RELATED [GARD:0009619, MESH:C535669] synonym: "solar keratosis of lip" RELATED [] xref: icd11.foundation:436658980 {source="MONDO:equivalentTo"} @@ -522785,7 +522879,7 @@ synonym: "disturbances, loudness perception" RELATED [MESH:D012001] synonym: "hyperacuses" RELATED [MESH:D012001] synonym: "hyperacusia" RELATED [MESH:D012001] synonym: "hyperacusias" RELATED [MESH:D012001] -synonym: "hyperacusis" EXACT [NCIT:C116366] +synonym: "hyperacusis" EXACT [icd11.foundation:652034206, NCIT:C116366] synonym: "hyperesthesia, auditory" RELATED [MESH:D012001] synonym: "hyperesthesias, auditory" RELATED [MESH:D012001] synonym: "loudness perception disturbance" RELATED [MESH:D012001] @@ -522814,7 +522908,7 @@ is_a: MONDO:0024422 {source="NCIT:C116366"} ! auditory perceptual disorders id: MONDO:0043310 name: amaurosis fugax def: "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)" [MESH:D020757] -synonym: "amaurosis fugax" EXACT [NCIT:C84550] +synonym: "amaurosis fugax" EXACT [icd11.foundation:691084626, NCIT:C84550] synonym: "amaurosis fugax (one sided temporary vision loss)" RELATED [] synonym: "blindness, monocular, transient" RELATED [MESH:D020757] synonym: "blindness, transient monocular" RELATED [MESH:D020757] @@ -522857,8 +522951,8 @@ subset: gard_rare {source="GARD:9907", source="MONDO:GARD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:645617"} subset: rare synonym: "ADM" RELATED ABBREVIATION [GARD:0009907] -synonym: "amyopathic dermatomyositis" EXACT [Orphanet:645617] -synonym: "dermatomyositis sine myositis" EXACT [GARD:0009907] +synonym: "amyopathic dermatomyositis" EXACT [icd11.foundation:727262285, Orphanet:645617] +synonym: "dermatomyositis sine myositis" EXACT [GARD:0009907, Orphanet:645617] xref: GARD:9907 {source="MONDO:GARD"} xref: icd11.foundation:727262285 {source="MONDO:equivalentTo"} xref: MEDGEN:96065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -522970,7 +523064,7 @@ subset: ordo_disorder {source="Orphanet:521219"} subset: orphanet_rare {source="Orphanet:521219"} subset: rare synonym: "hepatic duct dystonia syndrome" RELATED [] -synonym: "Mirizzi syndrome" EXACT [] +synonym: "Mirizzi syndrome" EXACT [icd11.foundation:381742412, Orphanet:521219] synonym: "Mirizzi's syndrome" RELATED [GARD:0010177, MESH:D057792] synonym: "mirizzi's syndrome" EXACT [] synonym: "Mirizzis syndrome" RELATED [MESH:D057792] @@ -523044,7 +523138,7 @@ def: "A reactive, well-circumscribed vascular lesion. It is characterized by the subset: ordo_disorder {source="Orphanet:673525"} subset: orphanet_rare {source="Orphanet:673525"} subset: rare -synonym: "intravascular papillary endothelial hyperplasia" EXACT [NCIT:C4391] +synonym: "intravascular papillary endothelial hyperplasia" EXACT [icd11.foundation:1397961760, NCIT:C4391, Orphanet:673525] synonym: "Masson lesion" EXACT [NCIT:C4391] synonym: "Masson pseudotumor" EXACT [NCIT:C4391] synonym: "Masson's pseudoangiosarcoma" RELATED [GARD:0010733] @@ -523125,7 +523219,7 @@ synonym: "iliac vein compression syndrome" EXACT [] synonym: "Iliocaval compression syndrome" RELATED [GARD:0012141, MESH:D062108] synonym: "Iliocaval compression syndromes" RELATED [MESH:D062108] synonym: "May Thurner syndrome" RELATED [GARD:0012141, MESH:D062108] -synonym: "May-Thurner syndrome" EXACT [] +synonym: "May-Thurner syndrome" EXACT [Orphanet:675404] synonym: "syndrome, Cockett" RELATED [MESH:D062108] synonym: "syndrome, Iliocaval compression" RELATED [MESH:D062108] synonym: "syndrome, May-Thurner" RELATED [MESH:D062108] @@ -523145,12 +523239,12 @@ subset: gard_rare {source="GARD:12361", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "eosinophil peroxidase deficiency" EXACT [OMIM:261500, OMIM:genemap2] -synonym: "eosinophil peroxidase deficiency, Partial" RELATED [OMIM:261500] +synonym: "eosinophil peroxidase deficiency" EXACT [OMIM:261500] +synonym: "eosinophil peroxidase deficiency, Partial" RELATED [] synonym: "eosinophil peroxidase deficiency, partial" RELATED [GARD:0012361, MESH:C564893] -synonym: "EPXD" RELATED ABBREVIATION [GARD:0012361, OMIM:261500] -synonym: "peroxidase and phospholipid deficiency in eosinophils" RELATED [GARD:0012361, MESH:C564893, OMIM:261500] -synonym: "Presentey anomaly" RELATED [GARD:0012361, OMIM:261500] +synonym: "EPXD" RELATED ABBREVIATION [GARD:0012361] +synonym: "peroxidase and phospholipid deficiency in eosinophils" RELATED [GARD:0012361, MESH:C564893] +synonym: "Presentey anomaly" RELATED [GARD:0012361] synonym: "presentey anomaly" RELATED [] xref: GARD:12361 {source="MONDO:GARD"} xref: MEDGEN:342386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -523192,7 +523286,7 @@ synonym: "acute sensorineural hearing loss by acute acoustic trauma or sudden de synonym: "deafness, sudden" RELATED [MESH:D003639] synonym: "sudden deafness" RELATED [GARD:0012927, MESH:D003639] synonym: "sudden hearing loss" BROAD [MESH:D003639] -synonym: "sudden sensorineural hearing loss" EXACT [] +synonym: "sudden sensorineural hearing loss" EXACT [Orphanet:90059] xref: GARD:12927 {source="MONDO:GARD"} xref: MEDGEN:907022 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D003639 {source="MONDO:equivalentTo"} @@ -523241,7 +523335,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "chromosome 8 duplication" RELATED [MESH:C537942] -synonym: "trisomy 8" RELATED [MESH:C537942, NCIT:C36396] +synonym: "trisomy 8" RELATED [MESH:C537942] xref: MEDGEN:98158 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C537942 {source="MONDO:equivalentTo"} xref: NCIT:C36396 {source="MONDO:relatedTo"} @@ -523306,7 +523400,7 @@ synonym: "Abnormality, radiation-induced" RELATED [MESH:D000016] synonym: "radiation induced abnormalities" RELATED [MESH:D000016] synonym: "radiation-induced abnormalities" EXACT [NCIT:C26684] synonym: "radiation-induced Abnormality" EXACT [MESH:D000016, NCIT:C26684] -synonym: "radiation-induced disorder" EXACT [NCIT:C26684] +synonym: "radiation-induced disorder" EXACT [NCIT:C26684, Orphanet:521132] xref: EFO:0009565 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:22139 {source="MONDO:GARD"} xref: MEDGEN:734320 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -523324,7 +523418,7 @@ id: MONDO:0043465 name: achlorhydria def: "Absence of hydrochloric acid in the gastric juice." [NCIT:C2850] synonym: "absent gastric acidity" RELATED [] -synonym: "achlorhydria" EXACT [NCIT:C2850] +synonym: "achlorhydria" EXACT [icd11.foundation:157689543, NCIT:C2850] synonym: "achylia gastrica" RELATED [MESH:D000126] synonym: "gastric anacidity" RELATED [] synonym: "hypochlorhydria" RELATED [MESH:D000126] @@ -523501,7 +523595,7 @@ comment: Editor note: consider separate class for dementia synonym: "dementia due to head trauma" NARROW [] synonym: "post-traumatic brain syndrome" NARROW [] synonym: "post-traumatic dementia" NARROW [] -synonym: "traumatic encephalopathy" EXACT [NCIT:C35542] +synonym: "traumatic encephalopathy" EXACT [icd11.foundation:1673722101, NCIT:C35542] xref: icd11.foundation:1673722101 {source="MONDO:equivalentTo"} xref: MEDGEN:536661 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C35542 {source="MONDO:equivalentTo"} @@ -523515,8 +523609,8 @@ id: MONDO:0043519 name: burn def: "A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation." [NCIT:C34441] synonym: "Burn" EXACT [NCIT:C34441] -synonym: "burn" EXACT [MESH:D002056] -synonym: "Burn(s)" EXACT [NCIT:C34441] +synonym: "burn" EXACT [MESH:D002056, NCIT:C34441] +synonym: "Burn(s)" EXACT [] xref: ICD10CM:T20-T25 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:T26-T28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:T30-T32 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -523569,7 +523663,7 @@ synonym: "Cephalgia, histamine" EXACT [MESH:D003027] synonym: "Cephalgias, histamine" EXACT [MESH:D003027] synonym: "chronic cluster headache" RELATED [MESH:D003027] synonym: "chronic cluster headaches" RELATED [MESH:D003027] -synonym: "ciliary neuralgia" EXACT [MESH:D003027, Orphanet:1002] +synonym: "ciliary neuralgia" EXACT [MESH:D003027] synonym: "ciliary neuralgias" EXACT [MESH:D003027] synonym: "cluster headache" EXACT [NCIT:C117077] synonym: "cluster headache syndrome" EXACT [MESH:D003027] @@ -523581,11 +523675,11 @@ synonym: "cluster headaches" RELATED [MESH:D003027] synonym: "cluster headaches, atypical" RELATED [MESH:D003027] synonym: "cluster headaches, chronic" RELATED [MESH:D003027] synonym: "cluster headaches, episodic" RELATED [MESH:D003027] -synonym: "cluster migraine" EXACT [Orphanet:1002] +synonym: "cluster migraine" EXACT [] synonym: "episodic cluster headache" RELATED [MESH:D003027] synonym: "episodic cluster headaches" RELATED [MESH:D003027] -synonym: "erythromelalgia of the head" EXACT [Orphanet:1002] -synonym: "erythroprosopalgia of bing" EXACT [Orphanet:1002] +synonym: "erythromelalgia of the head" EXACT [] +synonym: "erythroprosopalgia of bing" EXACT [] synonym: "headache syndrome, cluster" RELATED [MESH:D003027] synonym: "headache syndromes, cluster" RELATED [MESH:D003027] synonym: "headache, atypical cluster" RELATED [MESH:D003027] @@ -523596,10 +523690,10 @@ synonym: "headaches, atypical cluster" RELATED [MESH:D003027] synonym: "headaches, chronic cluster" RELATED [MESH:D003027] synonym: "headaches, cluster" RELATED [MESH:D003027] synonym: "headaches, episodic cluster" RELATED [MESH:D003027] -synonym: "histamine cephalgia" EXACT [MESH:D003027, Orphanet:1002] +synonym: "histamine cephalgia" EXACT [MESH:D003027] synonym: "histamine cephalgias" EXACT [MESH:D003027] -synonym: "histamine headache" EXACT [Orphanet:1002] -synonym: "Horton headache" EXACT [Orphanet:1002] +synonym: "histamine headache" EXACT [] +synonym: "Horton headache" EXACT [] synonym: "Horton syndrome" EXACT [MESH:D003027] synonym: "Horton's headache" EXACT [] synonym: "Horton's neuralgia" EXACT [] @@ -523607,11 +523701,11 @@ synonym: "Horton's syndrome" EXACT [MESH:D003027] synonym: "Hortons syndrome" EXACT [MESH:D003027] synonym: "migraine, neuralgic" EXACT [MESH:D003027] synonym: "migraines, neuralgic" EXACT [MESH:D003027] -synonym: "migrainous neuralgia" EXACT [Orphanet:1002] +synonym: "migrainous neuralgia" EXACT [] synonym: "neuralgia, ciliary" RELATED [MESH:D003027] synonym: "neuralgic migraine" RELATED [MESH:D003027] synonym: "neuralgic migraines" RELATED [MESH:D003027] -synonym: "red migraine" EXACT [Orphanet:1002] +synonym: "red migraine" EXACT [] synonym: "syndrome, cluster headache" RELATED [MESH:D003027] synonym: "syndrome, Horton" RELATED [MESH:D003027] synonym: "syndrome, Horton's" RELATED [MESH:D003027] @@ -523633,7 +523727,7 @@ def: "Conjunctivitis resulting from viral infection." [NCIT:C34509] subset: otar {source="MONDO:OTAR"} synonym: "Conjunctivitides, viral" RELATED [MESH:D003236] synonym: "viral Conjunctivitides" RELATED [MESH:D003236] -synonym: "viral conjunctivitis" EXACT [MESH:D003236, NCIT:C34509] +synonym: "viral conjunctivitis" EXACT [icd11.foundation:157616931, MESH:D003236, NCIT:C34509] synonym: "Viruses caused conjunctivitis (disease)" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Viruses conjunctivitis (disease)" EXACT [] xref: EFO:0008571 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -523680,7 +523774,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "associated infection, Healthcare" RELATED [MESH:D003428] synonym: "associated infections, Healthcare" RELATED [MESH:D003428] synonym: "Cross infections" RELATED [MESH:D003428] -synonym: "HAI" BROAD ABBREVIATION [NCIT:C115164] +synonym: "HAI" BROAD ABBREVIATION [] synonym: "health care associated infection" RELATED [MESH:D003428] synonym: "health care associated infections" RELATED [MESH:D003428] synonym: "Healthcare associated infection" RELATED [MESH:D003428] @@ -523823,7 +523917,7 @@ synonym: "fracture, pathological" RELATED [MESH:D005598] synonym: "fracture, spontaneous" RELATED [MESH:D005598] synonym: "fractures, pathologic" RELATED [MESH:D005598] synonym: "fractures, pathological" RELATED [MESH:D005598] -synonym: "pathologic fracture" EXACT [MESH:D005598, NCIT:C3047] +synonym: "pathologic fracture" EXACT [MESH:D005598] synonym: "pathologic fractures" RELATED [MESH:D005598] synonym: "pathological fracture" EXACT [MESH:D005598] synonym: "pathological fractures" RELATED [MESH:D005598] @@ -523873,16 +523967,16 @@ name: chromosome inversion disorder def: "Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome." [https://orcid.org/0000-0002-4142-7153, NCIT:C6827] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "chromosomal inversion" RELATED [MESH:D007446, NCIT:C6827] +synonym: "chromosomal inversion" RELATED [MESH:D007446] synonym: "chromosomal Inversions" RELATED [MESH:D007446] synonym: "chromosome Inversions" RELATED [MESH:D007446] -synonym: "inv" RELATED [NCIT:C6827] -synonym: "inversion" RELATED [NCIT:C6827] +synonym: "inv" RELATED [] +synonym: "inversion" RELATED [] synonym: "inversion, chromosomal" RELATED [MESH:D007446] synonym: "inversion, chromosome" RELATED [MESH:D007446] synonym: "Inversions, chromosomal" RELATED [MESH:D007446] synonym: "Inversions, chromosome" RELATED [MESH:D007446] -synonym: "inverted chromosome" RELATED [NCIT:C6827] +synonym: "inverted chromosome" RELATED [] xref: MEDGEN:7145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D007446 {source="MONDO:equivalentTo"} xref: NCIT:C6827 {source="MONDO:relatedTo"} @@ -523938,8 +524032,8 @@ synonym: "disease or disorder of mediastinum" EXACT [] synonym: "disease, mediastinal" RELATED [MESH:D008477] synonym: "diseases, mediastinal" RELATED [MESH:D008477] synonym: "disorder of mediastinum" EXACT [MONDO:patterns/location_top] -synonym: "mediastinal disease" EXACT [NCIT:C26826] -synonym: "mediastinal disorder" EXACT [NCIT:C26826] +synonym: "mediastinal disease" EXACT [] +synonym: "mediastinal disorder" EXACT [] synonym: "mediastinum disease" EXACT [MONDO:design_pattern] synonym: "mediastinum disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: MESH:D008477 {source="MONDO:obsoleteEquivalent"} @@ -523972,7 +524066,7 @@ synonym: "failure, multiple organ" RELATED [MESH:D009102] synonym: "MODS" RELATED ABBREVIATION [MESH:D009102] synonym: "multi-organ failure" RELATED [] synonym: "multiorgan failure" EXACT [] -synonym: "multiple organ dysfunction syndrome" EXACT [MESH:D009102] +synonym: "multiple organ dysfunction syndrome" EXACT [MESH:D009102, NCIT:C179648] synonym: "multiple organ failure" EXACT [] synonym: "multiple organ failures" RELATED [MESH:D009102] synonym: "multiple organ system failure" EXACT [] @@ -524012,7 +524106,7 @@ def: "Necrosis of bone following radiation injury." [MESH:D010025] subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Osteoradionecroses" RELATED [MESH:D010025] -synonym: "osteoradionecrosis" EXACT [] +synonym: "osteoradionecrosis" EXACT [NCIT:C63707] synonym: "radiation necrosis of bone" RELATED [] xref: MEDGEN:10500 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D010025 {source="MONDO:equivalentTo"} @@ -524052,7 +524146,7 @@ synonym: "fallopian tube ectopic pregnancy" EXACT [MONDO:design_pattern, MONDO:p synonym: "fallopian tube pregnancy" RELATED [] synonym: "Pregnancies, tubal" RELATED [MESH:D011274] synonym: "tubal Pregnancies" RELATED [MESH:D011274] -synonym: "tubal pregnancy" EXACT [MESH:D011274, NCIT:C92946] +synonym: "tubal pregnancy" EXACT [icd11.foundation:913821868, MESH:D011274, NCIT:C92946] xref: icd11.foundation:913821868 {source="MONDO:equivalentTo"} xref: MEDGEN:10901 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D011274 {source="MONDO:equivalentTo"} @@ -524074,7 +524168,7 @@ synonym: "age-related hearing loss" RELATED [] synonym: "ARHI" EXACT ABBREVIATION [https://orcid.org/0000-0002-6601-2165] synonym: "presbyacusia" RELATED [] synonym: "Presbycuses" RELATED [MESH:D011304] -synonym: "presbycusis" EXACT [NCIT:C116367] +synonym: "presbycusis" EXACT [icd11.foundation:1569854675, NCIT:C116367] synonym: "senile deafness" RELATED [] xref: icd11.foundation:1569854675 {source="MONDO:equivalentTo"} xref: MEDGEN:10911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -524121,7 +524215,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Dermatitides, radiation recall" RELATED [MESH:D011855] synonym: "Dermatitides, radiation-induced" RELATED [MESH:D011855] -synonym: "dermatitis radiation" EXACT [NCIT:C3349] +synonym: "dermatitis radiation" EXACT [] synonym: "dermatitis, radiation induced" RELATED [MESH:D011855] synonym: "dermatitis, radiation recall" RELATED [MESH:D011855] synonym: "dermatitis, radiation-induced" RELATED [MESH:D011855] @@ -524134,7 +524228,7 @@ synonym: "radiation recall reactions" RELATED [MESH:D011855] synonym: "radiation-induced Dermatitides" RELATED [MESH:D011855] synonym: "radiation-induced dermatitis" EXACT [NCIT:C3349] synonym: "Radiodermatitides" RELATED [MESH:D011855] -synonym: "radiodermatitis" EXACT [NCIT:C3349] +synonym: "radiodermatitis" EXACT [] synonym: "reaction, radiation recall" RELATED [MESH:D011855] synonym: "reactions, radiation recall" RELATED [MESH:D011855] synonym: "recall reaction, radiation" RELATED [MESH:D011855] @@ -524173,7 +524267,7 @@ id: MONDO:0043777 name: rhinophyma def: "Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose." [NCIT:C34989] synonym: "hypertrophic rosacea" RELATED [] -synonym: "rhinophyma" EXACT [NCIT:C34989] +synonym: "rhinophyma" EXACT [icd11.foundation:158901546, NCIT:C34989] synonym: "Rhinophymas" RELATED [MESH:D012224] xref: icd11.foundation:158901546 {source="MONDO:equivalentTo"} xref: MEDGEN:48451 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -524189,7 +524283,7 @@ id: MONDO:0043783 name: sclerema neonatorum def: "A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life." [NCIT:C35009] synonym: "sclerema adiposum" RELATED [] -synonym: "sclerema neonatorum" EXACT [NCIT:C35009] +synonym: "sclerema neonatorum" EXACT [icd11.foundation:1470028414, NCIT:C35009] synonym: "underwood's disease" RELATED [] xref: icd11.foundation:1470028414 {source="MONDO:equivalentTo"} xref: MEDGEN:20677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -524222,7 +524316,7 @@ def: "Delayed-type hypersensitivity reaction to foreign proteins derived from an synonym: "intoxication by serum" RELATED [] synonym: "protein sickness" RELATED [] synonym: "serum reaction" RELATED [] -synonym: "serum sickness" EXACT [NCIT:C79718] +synonym: "serum sickness" EXACT [icd11.foundation:715261250, NCIT:C79718] synonym: "serum Sicknesses" RELATED [MESH:D012713] synonym: "sickness, serum" RELATED [MESH:D012713] synonym: "Sicknesses, serum" RELATED [MESH:D012713] @@ -524270,7 +524364,7 @@ synonym: "post-traumatic Myelopathies" RELATED [MESH:D013119] synonym: "post-traumatic myelopathy" RELATED [MESH:D013119] synonym: "spinal cord contusion" RELATED [MESH:D013119] synonym: "spinal cord Contusions" RELATED [MESH:D013119] -synonym: "spinal cord injury" EXACT [MESH:D013119, MONDO:patterns/location] +synonym: "spinal cord injury" EXACT [MESH:D013119, MONDO:patterns/location, Orphanet:90058] synonym: "spinal cord laceration" RELATED [MESH:D013119] synonym: "spinal cord Lacerations" RELATED [MESH:D013119] synonym: "spinal cord transection" RELATED [MESH:D013119] @@ -524328,8 +524422,8 @@ id: MONDO:0043839 name: ulcer disease def: "A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue." [MESH:D014456] subset: otar {source="MONDO:OTAR"} -synonym: "ulcer" EXACT [MESH:D014456] -synonym: "ulcers" EXACT [MESH:D014456] +synonym: "ulcer" EXACT [MESH:D014456, NCIT:C3426] +synonym: "ulcers" EXACT [MESH:D014456, NCIT:C3426] xref: MEDGEN:22541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D014456 {source="MONDO:equivalentTo"} xref: NCIT:C3426 {source="MONDO:equivalentTo"} @@ -524407,7 +524501,7 @@ relationship: has_characteristic MONDO:0021152 {source="OMIMPS:165500"} ! inheri id: MONDO:0043881 name: obsolete acute eosinophilic leukemia def: "OBSOLETE. A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001)" [NCIT:C26813] -synonym: "acute eosinophilic leukemia" EXACT [MESH:D015472, NCIT:C26813] +synonym: "acute eosinophilic leukemia" EXACT [MESH:D015472] synonym: "acute eosinophilic leukemias" RELATED [MESH:D015472] synonym: "eosinophilic leukemia, acute" RELATED [MESH:D015472] synonym: "eosinophilic leukemias, acute" RELATED [MESH:D015472] @@ -524442,7 +524536,7 @@ intersection_of: disease_has_location UBERON:0000970 ! eye id: MONDO:0043892 name: prosthesis-related infectious disease def: "A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread." [NCIT:C79705] -synonym: "device related infection" EXACT [NCIT:C79705] +synonym: "device related infection" EXACT [] synonym: "infections, prosthesis-related" RELATED [MESH:D016459] synonym: "prosthesis related infections" RELATED [MESH:D016459] synonym: "prosthesis-related infection" EXACT [MESH:D016459, NCIT:C79705] @@ -524503,7 +524597,7 @@ comment: Pneumonitis typically refers to non-infectious inflammation, whereas pn subset: otar {source="MONDO:OTAR"} synonym: "inflammation of lung parenchyma" EXACT [] synonym: "lung parenchyma inflammation" EXACT [MONDO:patterns/inflammatory_disease_by_site] -synonym: "pneumonitis" EXACT [NCIT:C113159] +synonym: "pneumonitis" EXACT [icd11.foundation:1324545867, NCIT:C113159] xref: EFO:1001991 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: icd11.foundation:1324545867 {source="MONDO:equivalentTo"} xref: MEDGEN:811420 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -524530,7 +524624,7 @@ synonym: "radiation fibrosis" RELATED [MESH:D017564] synonym: "radiation pneumonia" RELATED [MESH:D017564] synonym: "radiation Pneumonias" RELATED [MESH:D017564] synonym: "radiation Pneumonitides" RELATED [MESH:D017564] -synonym: "radiation pneumonitis" EXACT [] +synonym: "radiation pneumonitis" EXACT [icd11.foundation:1914397767] xref: icd11.foundation:1914397767 {source="MONDO:equivalentTo"} xref: MESH:D017564 {source="MONDO:equivalentTo"} xref: SCTID:84004001 {source="MONDO:equivalentTo"} @@ -524626,7 +524720,7 @@ relationship: disease_disrupts GO:0030431 ! sleep id: MONDO:0043975 name: autonomic dysreflexia def: "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" [MESH:D020211] -synonym: "autonomic dysreflexia" EXACT [] +synonym: "autonomic dysreflexia" EXACT [icd11.foundation:1401282234] synonym: "autonomic Dysreflexia, spinal" RELATED [MESH:D020211] synonym: "autonomic Dysreflexias" RELATED [MESH:D020211] synonym: "autonomic Dysreflexias, spinal" RELATED [MESH:D020211] @@ -524710,7 +524804,7 @@ is_a: MONDO:0005609 {source="MESH:D031368"} ! herpes zoster id: MONDO:0043994 name: acute cholecystitis def: "Acute inflammation of the gallbladder." [NCIT:C35152] -synonym: "acute cholecystitis" EXACT [MESH:D041881, NCIT:C35152] +synonym: "acute cholecystitis" EXACT [icd11.foundation:2071113448, MESH:D041881, NCIT:C35152] xref: icd11.foundation:2071113448 {source="MONDO:equivalentTo"} xref: MEDGEN:57682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D041881 {source="MONDO:equivalentTo"} @@ -524773,7 +524867,7 @@ synonym: "post partum thyroiditis" RELATED [MESH:D050032] synonym: "post-partum thyroiditides" RELATED [MESH:D050032] synonym: "post-partum thyroiditis" RELATED [MESH:D050032] synonym: "postpartum thyroiditides" RELATED [MESH:D050032] -synonym: "postpartum thyroiditis" EXACT [NCIT:C114389] +synonym: "postpartum thyroiditis" EXACT [icd11.foundation:1577113218, NCIT:C114389] synonym: "thyroiditides, post-partum" RELATED [MESH:D050032] synonym: "thyroiditides, postpartum" RELATED [MESH:D050032] synonym: "thyroiditis, post-partum" RELATED [MESH:D050032] @@ -524797,7 +524891,7 @@ def: "An acute or subacute reversible condition characterized by headaches, ment synonym: "leukoencephalopathy syndrome, Posterior" RELATED [MESH:D054038] synonym: "leukoencephalopathy syndromes, Posterior" RELATED [MESH:D054038] synonym: "Posterior reversible encephalopathy syndrome" EXACT [NCIT:C78598] -synonym: "posterior reversible encephalopathy syndrome" EXACT [] +synonym: "posterior reversible encephalopathy syndrome" EXACT [NCIT:C78598] synonym: "PRES" EXACT ABBREVIATION [NCIT:C78598] synonym: "reversible occipital parietal encephalopathy" EXACT [NCIT:C78598] synonym: "reversible Posterior cerebral edema syndrome" EXACT [NCIT:C78598] @@ -524926,7 +525020,7 @@ name: collagenous sprue def: "A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal." [NCIT:C45426] synonym: "collagenous enteropathy" RELATED [] synonym: "collagenous enteropathy syndrome" RELATED [] -synonym: "collagenous sprue" EXACT [NCIT:C45426] +synonym: "collagenous sprue" EXACT [icd11.foundation:562877246, NCIT:C45426] synonym: "collagenous Sprues" RELATED [MESH:D064068] synonym: "non-gluten intolerance syndrome" RELATED [] synonym: "non-gluten sensitive enteropathy syndrome" EXACT [] @@ -525029,7 +525123,7 @@ synonym: "hyalitis" EXACT [NCIT:C50587] synonym: "hyaloiditis" EXACT [NCIT:C50587] synonym: "Vitreitis" EXACT [NCIT:C50587] synonym: "Vitritis" EXACT [NCIT:C50587] -synonym: "vitritis" EXACT [] +synonym: "vitritis" EXACT [NCIT:C50587] xref: MEDGEN:68620 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C50587 {source="MONDO:equivalentTo"} xref: SCTID:95802009 {source="MONDO:equivalentTo"} @@ -525114,7 +525208,7 @@ subset: ordo_disorder {source="Orphanet:98809"} subset: orphanet_rare {source="Orphanet:98809"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EKD" BROAD ABBREVIATION [OMIMPS:128200] +synonym: "EKD" BROAD ABBREVIATION [] synonym: "familial paroxysmal kinesigenic dyskinesia" EXACT [Orphanet:98809] synonym: "familial PKD" EXACT [Orphanet:98809] synonym: "paroxysmal kinesigenic choreathetosis" EXACT [Orphanet:98809] @@ -525144,11 +525238,11 @@ name: Shwachman-Diamond syndrome 1 subset: gard_rare {source="GARD:15221", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "lipomatosis of pancreas, congenital" RELATED [OMIM:260400] -synonym: "pancreatic insufficiency and bone marrow dysfunction" RELATED [OMIM:260400] -synonym: "SDS1" RELATED ABBREVIATION [OMIM:260400] -synonym: "Shwachman-Bodian syndrome" RELATED [OMIM:260400] -synonym: "Shwachman-Diamond syndrome" RELATED [OMIM:260400] +synonym: "lipomatosis of pancreas, congenital" RELATED [] +synonym: "pancreatic insufficiency and bone marrow dysfunction" RELATED [] +synonym: "SDS1" RELATED ABBREVIATION [] +synonym: "Shwachman-Bodian syndrome" RELATED [] +synonym: "Shwachman-Diamond syndrome" RELATED [] synonym: "Shwachman-Diamond syndrome 1" EXACT [OMIM:260400] xref: GARD:15221 {source="MONDO:GARD"} xref: MEDGEN:1640046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -525166,7 +525260,7 @@ def: "Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreati subset: gard_rare {source="GARD:16272", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SDS2" RELATED ABBREVIATION [OMIM:617941] +synonym: "SDS2" RELATED ABBREVIATION [] synonym: "Shwachman-Diamond syndrome 2" EXACT [OMIM:617941] xref: GARD:16272 {source="MONDO:GARD"} xref: MEDGEN:1634617 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -525183,14 +525277,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "chondrodystrophy with sensorineural deafness" RELATED [OMIM:215150] -synonym: "Nance-Insley syndrome" RELATED [OMIM:215150] -synonym: "Nance-Sweeney chondrodysplasia" RELATED [OMIM:215150] -synonym: "OSMED" RELATED ABBREVIATION [OMIM:215150] -synonym: "OSMEDB" RELATED ABBREVIATION [OMIM:215150] +synonym: "chondrodystrophy with sensorineural deafness" RELATED [] +synonym: "Nance-Insley syndrome" RELATED [] +synonym: "Nance-Sweeney chondrodysplasia" RELATED [] +synonym: "OSMED" RELATED ABBREVIATION [] +synonym: "OSMEDB" RELATED ABBREVIATION [] synonym: "otospondylomegaepiphyseal dysplasia, autosomal recessive" EXACT [OMIM:215150] -synonym: "Weissenbacher-Zweymuller syndrome" RELATED [OMIM:215150] -synonym: "Weissenbacher-Zweymuller syndrome, formerly" RELATED [OMIM:215150] +synonym: "Weissenbacher-Zweymuller syndrome" RELATED [] +synonym: "Weissenbacher-Zweymuller syndrome, formerly" RELATED [] xref: MEDGEN:1790497 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:215150 {source="MONDO:equivalentTo"} xref: Orphanet:1427 {source="OMIM:215150"} @@ -525207,10 +525301,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "CEBPE specific granule deficiency" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "lactoferrin-deficient neutrophils" RELATED [OMIM:245480] -synonym: "neutrophil lactoferrin deficiency" RELATED [OMIM:245480] -synonym: "SGD1" RELATED ABBREVIATION [OMIM:245480] -synonym: "specific granule deficiency" BROAD [OMIM:245480, OMIM:genemap2] +synonym: "lactoferrin-deficient neutrophils" RELATED [] +synonym: "neutrophil lactoferrin deficiency" RELATED [] +synonym: "SGD1" RELATED ABBREVIATION [] +synonym: "specific granule deficiency" BROAD [] synonym: "specific granule deficiency 1" EXACT CLINGEN_LABEL [OMIM:245480] synonym: "specific granule deficiency caused by mutation in CEBPE" EXACT [MONDO:design_pattern] xref: MEDGEN:1644049 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -525230,7 +525324,7 @@ def: "Specific granule deficiency-2 is an autosomal recessive immunologic disord subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SGD2" RELATED ABBREVIATION [OMIM:617475] +synonym: "SGD2" RELATED ABBREVIATION [] synonym: "specific granule deficiency 2" EXACT [OMIM:617475] xref: MEDGEN:1371952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617475 {source="MONDO:equivalentTo"} @@ -525259,7 +525353,7 @@ name: thalassemia minor def: "The inheritance of only one mutated beta-globin allele (beta+ or beta0)." [SCDO:0000114] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "beta thalassemia trait" EXACT [SCDO:0000114] +synonym: "beta thalassemia trait" EXACT [ICD10CM:D56.3, SCDO:0000114] xref: DOID:0080774 {source="MONDO:equivalentTo"} xref: ICD10CM:D56.3 {source="MONDO:equivalentTo"} xref: MedDRA:10054662 @@ -525288,7 +525382,7 @@ intersection_of: has_characteristic MONDO:0700005 ! idiopathic id: MONDO:0044212 name: chronic idiopathic urticaria def: "Chronic form of idiopathic urticaria." [MONDO:patterns/chronic] -synonym: "chronic idiopathic urticaria" EXACT [] +synonym: "chronic idiopathic urticaria" EXACT [DOID:0080749] synonym: "chronic spontaneous urticaria" EXACT [DOID:0080749] synonym: "idiopathic urticaria, chronic" EXACT [MONDO:design_pattern, MONDO:patterns/chronic] xref: DOID:0080749 {source="MONDO:equivalentTo"} @@ -525316,7 +525410,7 @@ relationship: has_characteristic PATO:0000389 ! acute id: MONDO:0044214 name: obsolete androstenone, ability to smell comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "ANDROSTENONE, ability to smell" RELATED [OMIM:105570] +synonym: "ANDROSTENONE, ability to smell" RELATED [] xref: OMIM:105570 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525324,7 +525418,7 @@ is_obsolete: true id: MONDO:0044215 name: obsolete arm folding preference comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "ARM folding preference" RELATED [OMIM:107850] +synonym: "ARM folding preference" RELATED [] xref: OMIM:107850 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525332,7 +525426,7 @@ is_obsolete: true id: MONDO:0044216 name: obsolete artichoke, modification of taste by comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "artichoke, modification of taste by" RELATED [OMIM:108320] +synonym: "artichoke, modification of taste by" RELATED [] xref: OMIM:108320 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525340,7 +525434,7 @@ is_obsolete: true id: MONDO:0044217 name: obsolete asparagus, specific smell hypersensitivity comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "asparagus, specific smell hypersensitivity" RELATED [OMIM:108390] +synonym: "asparagus, specific smell hypersensitivity" RELATED [] xref: OMIM:108390 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525348,8 +525442,8 @@ is_obsolete: true id: MONDO:0044218 name: obsolete beeturia comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "BEETURIA" RELATED ABBREVIATION [OMIM:109600] -synonym: "Betacyaninuria" RELATED [OMIM:109600] +synonym: "BEETURIA" RELATED ABBREVIATION [] +synonym: "Betacyaninuria" RELATED [] xref: OMIM:109600 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525358,11 +525452,11 @@ id: MONDO:0044219 name: obsolete blood group, duffy system def: "OBSOLETE. The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)})." [OMIM:110700] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "blood group, DUFFY system" RELATED [OMIM:110700] -synonym: "blood group, Duffy system" EXACT [OMIM:110700, OMIM:genemap2] -synonym: "Duffy blood Group system" RELATED [OMIM:110700] -synonym: "FY" RELATED ABBREVIATION [OMIM:110700] -synonym: "Plasmodium vivax, resistance to" RELATED [OMIM:110700] +synonym: "blood group, DUFFY system" RELATED [] +synonym: "blood group, Duffy system" EXACT [] +synonym: "Duffy blood Group system" RELATED [] +synonym: "FY" RELATED ABBREVIATION [] +synonym: "Plasmodium vivax, resistance to" RELATED [] xref: OMIM:110700 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525371,12 +525465,12 @@ is_obsolete: true id: MONDO:0044220 name: obsolete blood group, 1 system comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "adult I phenotype" RELATED [OMIM:110800] -synonym: "blood group, I system" RELATED [OMIM:110800] -synonym: "blood group, Ii" EXACT [OMIM:110800, OMIM:genemap2] -synonym: "I blood Group system" RELATED [OMIM:110800] -synonym: "II" RELATED ABBREVIATION [OMIM:110800] -synonym: "II blood Group system" RELATED [OMIM:110800] +synonym: "adult I phenotype" RELATED [] +synonym: "blood group, I system" RELATED [] +synonym: "blood group, Ii" EXACT [] +synonym: "I blood Group system" RELATED [] +synonym: "II" RELATED ABBREVIATION [] +synonym: "II blood Group system" RELATED [] xref: OMIM:110800 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525385,9 +525479,9 @@ is_obsolete: true id: MONDO:0044221 name: obsolete blood group--lutheran inhibitor comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "blood group--Lutheran INHIBITOR" RELATED [OMIM:111150] -synonym: "dominant 50U (A-B-) phenotype" RELATED [OMIM:111150] -synonym: "INLU" RELATED ABBREVIATION [OMIM:111150] +synonym: "blood group--Lutheran INHIBITOR" RELATED [] +synonym: "dominant 50U (A-B-) phenotype" RELATED [] +synonym: "INLU" RELATED ABBREVIATION [] xref: OMIM:111150 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525395,16 +525489,16 @@ is_obsolete: true id: MONDO:0044222 name: obsolete blood group, p1pk system comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "blood group, P1PK system" RELATED [OMIM:111400] -synonym: "blood group, P1Pk system, p phenotype" EXACT [OMIM:111400, OMIM:genemap2] -synonym: "blood group, P1Pk system, P(2) phenotype" EXACT [OMIM:111400, OMIM:genemap2] -synonym: "blood group, P1PK system, P(k) phenotype" EXACT [OMIM:111400, OMIM:genemap2] -synonym: "Nor Polyagglutination syndrome" RELATED [OMIM:111400] -synonym: "P phenotype" RELATED [OMIM:111400] -synonym: "P(1) phenotype" RELATED [OMIM:111400] -synonym: "P(2) phenotype" RELATED [OMIM:111400] -synonym: "P1(K) phenotype" RELATED [OMIM:111400] -synonym: "P2(K) phenotype" RELATED [OMIM:111400] +synonym: "blood group, P1PK system" RELATED [] +synonym: "blood group, P1Pk system, p phenotype" EXACT [] +synonym: "blood group, P1Pk system, P(2) phenotype" EXACT [] +synonym: "blood group, P1PK system, P(k) phenotype" EXACT [] +synonym: "Nor Polyagglutination syndrome" RELATED [] +synonym: "P phenotype" RELATED [] +synonym: "P(1) phenotype" RELATED [] +synonym: "P(2) phenotype" RELATED [] +synonym: "P1(K) phenotype" RELATED [] +synonym: "P2(K) phenotype" RELATED [] xref: OMIM:111400 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525413,10 +525507,10 @@ is_obsolete: true id: MONDO:0044223 name: obsolete radin blood group antigen comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "blood group, Radin" EXACT [OMIM:111620, OMIM:genemap2] -synonym: "blood Group--Radin antigen" RELATED [OMIM:111620] -synonym: "RADIN blood group antigen" RELATED [OMIM:111620] -synonym: "RD" RELATED ABBREVIATION [OMIM:111620] +synonym: "blood group, Radin" EXACT [] +synonym: "blood Group--Radin antigen" RELATED [] +synonym: "RADIN blood group antigen" RELATED [] +synonym: "RD" RELATED ABBREVIATION [] xref: OMIM:111620 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525425,15 +525519,15 @@ is_obsolete: true id: MONDO:0044224 name: obsolete apocrine gland secretion, variation 1n comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "apocrine gland secretion, variation IN" RELATED [OMIM:117800] -synonym: "axillary odor, variation 1N" RELATED [OMIM:117800] -synonym: "axillary odor, variation in" EXACT [OMIM:117800, OMIM:genemap2] -synonym: "cerumen, variation 1N" RELATED [OMIM:117800] -synonym: "colostrum secretion, variation 1N" RELATED [OMIM:117800] -synonym: "colostrum secretion, variation in" EXACT [OMIM:117800, OMIM:genemap2] -synonym: "Ear wax, wet/dry" RELATED [OMIM:117800] -synonym: "earwax, wet/dry" EXACT [OMIM:117800, OMIM:genemap2] -synonym: "wet wax" RELATED [OMIM:117800] +synonym: "apocrine gland secretion, variation IN" RELATED [] +synonym: "axillary odor, variation 1N" RELATED [] +synonym: "axillary odor, variation in" EXACT [] +synonym: "cerumen, variation 1N" RELATED [] +synonym: "colostrum secretion, variation 1N" RELATED [] +synonym: "colostrum secretion, variation in" EXACT [] +synonym: "Ear wax, wet/dry" RELATED [] +synonym: "earwax, wet/dry" EXACT [] +synonym: "wet wax" RELATED [] xref: OMIM:117800 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525442,8 +525536,8 @@ is_obsolete: true id: MONDO:0044225 name: obsolete creatine kinase, brain type, ectopic expression of comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "CKBE" RELATED ABBREVIATION [OMIM:123270] -synonym: "creatine KINASE, brain type, ectopic expression OF" RELATED [OMIM:123270] +synonym: "CKBE" RELATED ABBREVIATION [] +synonym: "creatine KINASE, brain type, ectopic expression OF" RELATED [] xref: HGNC:1992 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525451,10 +525545,10 @@ is_obsolete: true id: MONDO:0044226 name: obsolete defective interfering particle induction, control of comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "defective interfering particle induction, control OF" RELATED [OMIM:125260] -synonym: "Dipi, control of" RELATED [OMIM:125260] -synonym: "homologous viral interference" RELATED [OMIM:125260] -synonym: "vesicular stomatitis Virus defective interfering particle repressor" RELATED [OMIM:125260] +synonym: "defective interfering particle induction, control OF" RELATED [] +synonym: "Dipi, control of" RELATED [] +synonym: "homologous viral interference" RELATED [] +synonym: "vesicular stomatitis Virus defective interfering particle repressor" RELATED [] xref: HGNC:12678 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525462,9 +525556,9 @@ is_obsolete: true id: MONDO:0044227 name: obsolete dimples, facial comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "cheek dimples" RELATED [OMIM:126100] -synonym: "dimples, FACIAL" RELATED [OMIM:126100] -synonym: "smiling dimples" RELATED [OMIM:126100] +synonym: "cheek dimples" RELATED [] +synonym: "dimples, FACIAL" RELATED [] +synonym: "smiling dimples" RELATED [] xref: OMIM:126100 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525473,8 +525567,8 @@ id: MONDO:0044228 name: obsolete eegbqtl def: "OBSOLETE. Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002})." [OMIM:130190] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "EEGBQTL" RELATED ABBREVIATION [OMIM:130190] -synonym: "ELECTROENCEPHALOGRAPHIC pattern, BETA frequency, quantitative trait locus" RELATED [OMIM:130190] +synonym: "EEGBQTL" RELATED ABBREVIATION [] +synonym: "ELECTROENCEPHALOGRAPHIC pattern, BETA frequency, quantitative trait locus" RELATED [] xref: OMIM:130190 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525482,7 +525576,7 @@ is_obsolete: true id: MONDO:0044229 name: obsolete epiblepharon of lower 51d comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "epiblepharon of lower lid" RELATED [OMIM:131450] +synonym: "epiblepharon of lower lid" RELATED [] xref: OMIM:131450 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525490,7 +525584,7 @@ is_obsolete: true id: MONDO:0044230 name: obsolete epiblepharon of upper 51d comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "epiblepharon of upper lid" RELATED [OMIM:131460] +synonym: "epiblepharon of upper lid" RELATED [] xref: OMIM:131460 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525498,7 +525592,7 @@ is_obsolete: true id: MONDO:0044231 name: obsolete eyebrow, whorl 1n comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "eyebrow, whorl in" RELATED [OMIM:133800] +synonym: "eyebrow, whorl in" RELATED [] xref: OMIM:133800 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525506,8 +525600,8 @@ is_obsolete: true id: MONDO:0044232 name: obsolete fingers, relative length of comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "2D:4D finger-length ratio" RELATED [OMIM:136100] -synonym: "fingers, relative length OF" RELATED [OMIM:136100] +synonym: "2D:4D finger-length ratio" RELATED [] +synonym: "fingers, relative length OF" RELATED [] xref: OMIM:136100 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525515,9 +525609,9 @@ is_obsolete: true id: MONDO:0044233 name: obsolete hair whorl comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "Cowlick" RELATED [OMIM:139400] -synonym: "Double hair whorl" RELATED [OMIM:139400] -synonym: "hair whorl" RELATED [OMIM:139400] +synonym: "Cowlick" RELATED [] +synonym: "Double hair whorl" RELATED [] +synonym: "hair whorl" RELATED [] xref: OMIM:139400 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525525,11 +525619,11 @@ is_obsolete: true id: MONDO:0044234 name: obsolete hrm2 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "curly hair" RELATED [OMIM:139450] -synonym: "hair curvature, variation 1N" RELATED [OMIM:139450] -synonym: "hair morphology 2" RELATED [OMIM:139450] -synonym: "hair, curly" EXACT [OMIM:139450, OMIM:genemap2] -synonym: "HRM2" RELATED ABBREVIATION [OMIM:139450] +synonym: "curly hair" RELATED [] +synonym: "hair curvature, variation 1N" RELATED [] +synonym: "hair morphology 2" RELATED [] +synonym: "hair, curly" EXACT [] +synonym: "HRM2" RELATED ABBREVIATION [] xref: OMIM:139450 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525538,10 +525632,10 @@ is_obsolete: true id: MONDO:0044235 name: obsolete hsr comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "hand skill, relative" RELATED [OMIM:139900] -synonym: "Handedness" EXACT [OMIM:139900, OMIM:genemap2] -synonym: "handedness" RELATED [OMIM:139900] -synonym: "HSR" RELATED ABBREVIATION [OMIM:139900] +synonym: "hand skill, relative" RELATED [] +synonym: "Handedness" EXACT [] +synonym: "handedness" RELATED [] +synonym: "HSR" RELATED ABBREVIATION [] xref: OMIM:139900 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525551,8 +525645,8 @@ id: MONDO:0044236 name: obsolete hepatitis b vaccine, response to def: "OBSOLETE. More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010})." [OMIM:142395] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "HBV vaccine, response to" RELATED [OMIM:142395] -synonym: "HEPATITIS B vaccine, response to" RELATED [OMIM:142395] +synonym: "HBV vaccine, response to" RELATED [] +synonym: "HEPATITIS B vaccine, response to" RELATED [] xref: OMIM:142395 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525560,7 +525654,7 @@ is_obsolete: true id: MONDO:0044237 name: obsolete hypercholesterolemia suppressor comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "hypercholesterolemia suppressor" RELATED [OMIM:144020] +synonym: "hypercholesterolemia suppressor" RELATED [] xref: OMIM:144020 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525568,7 +525662,7 @@ is_obsolete: true id: MONDO:0044238 name: obsolete lunulae of fingernails comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "lunulae of fingernails" RELATED [OMIM:152600] +synonym: "lunulae of fingernails" RELATED [] xref: OMIM:152600 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525576,8 +525670,8 @@ is_obsolete: true id: MONDO:0044239 name: obsolete median-ulnar nerve communications comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "Martin-Gruber Median-ulnar anastomosis" RELATED [OMIM:155150] -synonym: "median-ulnar nerve communications" RELATED [OMIM:155150] +synonym: "Martin-Gruber Median-ulnar anastomosis" RELATED [] +synonym: "median-ulnar nerve communications" RELATED [] xref: OMIM:155150 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525586,8 +525680,8 @@ id: MONDO:0044240 name: obsolete musical perfect pitch def: "OBSOLETE. Perfect pitch, or absolute pitch (AP), is defined as the ability immediately and effortlessly to name a note or collection of notes when they are sounded. Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). Absolute pitch likely results from a combination of environmental and genetic factors ({16:Theusch et al., 2009})." [OMIM:159300] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "absolute pitch" RELATED [OMIM:159300] -synonym: "musical perfect pitch" RELATED [OMIM:159300] +synonym: "absolute pitch" RELATED [] +synonym: "musical perfect pitch" RELATED [] xref: OMIM:159300 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525595,7 +525689,7 @@ is_obsolete: true id: MONDO:0044241 name: obsolete mydriatic response to pharmacologic agents comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "mydriatic response to pharmacologic agents" RELATED [OMIM:159410] +synonym: "mydriatic response to pharmacologic agents" RELATED [] xref: OMIM:159410 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525603,7 +525697,7 @@ is_obsolete: true id: MONDO:0044242 name: obsolete mydriasis, congenital comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "mydriasis, congenital" RELATED [OMIM:159420] +synonym: "mydriasis, congenital" RELATED [] xref: OMIM:159420 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525611,7 +525705,7 @@ is_obsolete: true id: MONDO:0044243 name: obsolete nail high-sulfur protein comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "nail high-sulfur PROTEIN" RELATED [OMIM:161070] +synonym: "nail high-sulfur PROTEIN" RELATED [] xref: OMIM:161070 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525619,7 +525713,7 @@ is_obsolete: true id: MONDO:0044244 name: obsolete nail low-sulfur protein comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "nail LOW-sulfur PROTEIN" RELATED [OMIM:161080] +synonym: "nail LOW-sulfur PROTEIN" RELATED [] xref: OMIM:161080 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525627,7 +525721,7 @@ is_obsolete: true id: MONDO:0044245 name: obsolete nailbeds, pigmentation of comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "NAILBEDS, pigmentation OF" RELATED [OMIM:161100] +synonym: "NAILBEDS, pigmentation OF" RELATED [] xref: OMIM:161100 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525636,7 +525730,7 @@ id: MONDO:0044246 name: obsolete nystagmus, voluntary def: "OBSOLETE. Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976})." [OMIM:164170] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "NYSTAGMUS, voluntary" RELATED [OMIM:164170] +synonym: "NYSTAGMUS, voluntary" RELATED [] xref: OMIM:164170 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525644,7 +525738,7 @@ is_obsolete: true id: MONDO:0044247 name: obsolete palmomental reflex comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "PALMOMENTAL reflex" RELATED [OMIM:167700] +synonym: "PALMOMENTAL reflex" RELATED [] xref: OMIM:167700 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525653,13 +525747,13 @@ id: MONDO:0044248 name: obsolete thiourea tasting def: "OBSOLETE. The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995})." [OMIM:171200] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "Phenylthiocarbamide tasting" RELATED [OMIM:171200] -synonym: "phenylthiocarbamide tasting" EXACT [OMIM:171200, OMIM:genemap2] -synonym: "prop tasting" RELATED [OMIM:171200] -synonym: "Propylthiouracil tasting" RELATED [OMIM:171200] -synonym: "ptc tasting" RELATED [OMIM:171200] -synonym: "THIOT" RELATED ABBREVIATION [OMIM:171200] -synonym: "thiourea tasting" RELATED [OMIM:171200] +synonym: "Phenylthiocarbamide tasting" RELATED [] +synonym: "phenylthiocarbamide tasting" EXACT [] +synonym: "prop tasting" RELATED [] +synonym: "Propylthiouracil tasting" RELATED [] +synonym: "ptc tasting" RELATED [] +synonym: "THIOT" RELATED ABBREVIATION [] +synonym: "thiourea tasting" RELATED [] xref: OMIM:171200 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525668,11 +525762,11 @@ is_obsolete: true id: MONDO:0044249 name: obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "alkaline phosphatase, elevated serum" RELATED [OMIM:171720] -synonym: "alkaline phosphatase, plasma level of, QTL1" EXACT [OMIM:171720, OMIM:genemap2] -synonym: "alkaline phosphatase, plasma level OF, quantitative trait locus 1" RELATED [OMIM:171720] -synonym: "Alpqtl1" RELATED [OMIM:171720] -synonym: "hyperphosphatasemia, benign familial" RELATED [OMIM:171720] +synonym: "alkaline phosphatase, elevated serum" RELATED [] +synonym: "alkaline phosphatase, plasma level of, QTL1" EXACT [] +synonym: "alkaline phosphatase, plasma level OF, quantitative trait locus 1" RELATED [] +synonym: "Alpqtl1" RELATED [] +synonym: "hyperphosphatasemia, benign familial" RELATED [] xref: OMIM:171720 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525681,9 +525775,9 @@ is_obsolete: true id: MONDO:0044250 name: obsolete tongue curling, folding, or rolling comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "cloverleaf tongue" RELATED [OMIM:189300] -synonym: "tongue curling, folding, or rolling" RELATED [OMIM:189300] -synonym: "trefoil tongue" RELATED [OMIM:189300] +synonym: "cloverleaf tongue" RELATED [] +synonym: "tongue curling, folding, or rolling" RELATED [] +synonym: "trefoil tongue" RELATED [] xref: OMIM:189300 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525691,7 +525785,7 @@ is_obsolete: true id: MONDO:0044251 name: obsolete australia antigen comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "Australia antigen" RELATED [OMIM:209800] +synonym: "Australia antigen" RELATED [] xref: OMIM:209800 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525699,12 +525793,12 @@ is_obsolete: true id: MONDO:0044252 name: obsolete skin/hair/eye pigmentation, variation in, 6 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "SHEP6" RELATED ABBREVIATION [OMIM:210750] -synonym: "skin/hair/eye pigmentation 6, Blond/Brown hair" RELATED [OMIM:210750] -synonym: "skin/hair/eye pigmentation 6, blond/brown hair" EXACT [OMIM:210750, OMIM:genemap2] -synonym: "skin/hair/eye pigmentation 6, blue/Green eyes" RELATED [OMIM:210750] -synonym: "skin/hair/eye pigmentation 6, blue/green eyes" EXACT [OMIM:210750, OMIM:genemap2] -synonym: "skin/hair/eye pigmentation, variation IN, 6" RELATED [OMIM:210750] +synonym: "SHEP6" RELATED ABBREVIATION [] +synonym: "skin/hair/eye pigmentation 6, Blond/Brown hair" RELATED [] +synonym: "skin/hair/eye pigmentation 6, blond/brown hair" EXACT [] +synonym: "skin/hair/eye pigmentation 6, blue/Green eyes" RELATED [] +synonym: "skin/hair/eye pigmentation 6, blue/green eyes" EXACT [] +synonym: "skin/hair/eye pigmentation, variation IN, 6" RELATED [] xref: OMIM:210750 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525713,7 +525807,7 @@ is_obsolete: true id: MONDO:0044253 name: obsolete dermatoglyphics--palmar triradius d, absence of comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "dermatoglyphics--palmar triradius d, absence of" RELATED [OMIM:221760] +synonym: "dermatoglyphics--palmar triradius d, absence of" RELATED [] xref: OMIM:221760 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525721,7 +525815,7 @@ is_obsolete: true id: MONDO:0044254 name: obsolete dermatoglyphics--hypothenar radial arch comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "dermatoglyphics--hypothenar radial arch" RELATED [OMIM:221780] +synonym: "dermatoglyphics--hypothenar radial arch" RELATED [] xref: OMIM:221780 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525730,18 +525824,18 @@ id: MONDO:0044255 name: obsolete skin/hair/eye pigmentation, variation in, 1 def: "OBSOLETE. Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501)." [OMIM:227220] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "Brown eye color 2" RELATED [OMIM:227220] -synonym: "eye color 3" RELATED [OMIM:227220] -synonym: "eye color, blue/Nonblue" RELATED [OMIM:227220] -synonym: "eye color, Brown/blue" RELATED [OMIM:227220] -synonym: "hair color 3" RELATED [OMIM:227220] -synonym: "SHEP1" RELATED ABBREVIATION [OMIM:227220] -synonym: "skin/hair/eye pigmentation 1, Blond/Brown hair" RELATED [OMIM:227220] -synonym: "skin/hair/eye pigmentation 1, blond/brown hair" EXACT [OMIM:227220, OMIM:genemap2] -synonym: "skin/hair/eye pigmentation 1, blue/Brown eyes" RELATED [OMIM:227220] -synonym: "skin/hair/eye pigmentation 1, blue/Nonblue eyes" RELATED [OMIM:227220] -synonym: "skin/hair/eye pigmentation 1, blue/nonblue eyes" EXACT [OMIM:227220, OMIM:genemap2] -synonym: "skin/hair/eye pigmentation, variation IN, 1" RELATED [OMIM:227220] +synonym: "Brown eye color 2" RELATED [] +synonym: "eye color 3" RELATED [] +synonym: "eye color, blue/Nonblue" RELATED [] +synonym: "eye color, Brown/blue" RELATED [] +synonym: "hair color 3" RELATED [] +synonym: "SHEP1" RELATED ABBREVIATION [] +synonym: "skin/hair/eye pigmentation 1, Blond/Brown hair" RELATED [] +synonym: "skin/hair/eye pigmentation 1, blond/brown hair" EXACT [] +synonym: "skin/hair/eye pigmentation 1, blue/Brown eyes" RELATED [] +synonym: "skin/hair/eye pigmentation 1, blue/Nonblue eyes" RELATED [] +synonym: "skin/hair/eye pigmentation 1, blue/nonblue eyes" EXACT [] +synonym: "skin/hair/eye pigmentation, variation IN, 1" RELATED [] xref: OMIM:227220 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525750,12 +525844,12 @@ is_obsolete: true id: MONDO:0044256 name: obsolete skin/hair/eye pigmentation, variation in, 5 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "SHEP5" RELATED ABBREVIATION [OMIM:227240] -synonym: "skin/hair/eye pigmentation 5, Black/nonblack hair" RELATED [OMIM:227240] -synonym: "skin/hair/eye pigmentation 5, black/nonblack hair" EXACT [OMIM:227240, OMIM:genemap2] -synonym: "skin/hair/eye pigmentation 5, dark/fair skin" EXACT [OMIM:227240, OMIM:genemap2] -synonym: "skin/hair/eye pigmentation 5, dark/light eyes" EXACT [OMIM:227240, OMIM:genemap2] -synonym: "skin/hair/eye pigmentation, variation IN, 5" RELATED [OMIM:227240] +synonym: "SHEP5" RELATED ABBREVIATION [] +synonym: "skin/hair/eye pigmentation 5, Black/nonblack hair" RELATED [] +synonym: "skin/hair/eye pigmentation 5, black/nonblack hair" EXACT [] +synonym: "skin/hair/eye pigmentation 5, dark/fair skin" EXACT [] +synonym: "skin/hair/eye pigmentation 5, dark/light eyes" EXACT [] +synonym: "skin/hair/eye pigmentation, variation IN, 5" RELATED [] xref: OMIM:227240 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525765,9 +525859,9 @@ id: MONDO:0044257 name: obsolete lutheran null def: "OBSOLETE. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported." [OMIM:247420] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "blood group, Lutheran null" EXACT [OMIM:247420, OMIM:genemap2] -synonym: "Lutheran null" RELATED [OMIM:247420] -synonym: "recessive 50U (A-B-) phenotype" RELATED [OMIM:247420] +synonym: "blood group, Lutheran null" EXACT [] +synonym: "Lutheran null" RELATED [] +synonym: "recessive 50U (A-B-) phenotype" RELATED [] xref: OMIM:247420 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525776,7 +525870,7 @@ is_obsolete: true id: MONDO:0044258 name: obsolete methane production comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "methane production" RELATED [OMIM:250650] +synonym: "methane production" RELATED [] xref: OMIM:250650 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525785,16 +525879,16 @@ id: MONDO:0044259 name: obsolete skin/hair/eye pigmentation, variation in, 2 def: "OBSOLETE. Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action." [OMIM:266300] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "Blond hair/fair skin" RELATED [OMIM:266300] -synonym: "hair color 2" RELATED [OMIM:266300] -synonym: "Red hair color" RELATED [OMIM:266300] -synonym: "Rha" RELATED [OMIM:266300] -synonym: "SHEP2" RELATED ABBREVIATION [OMIM:266300] -synonym: "skin/hair/eye pigmentation 2, blond hair/fair skin" EXACT [OMIM:266300, OMIM:genemap2] -synonym: "skin/hair/eye pigmentation 2, red hair/fair skin" EXACT [OMIM:266300, OMIM:genemap2] -synonym: "skin/hair/eye pigmentation, variation IN, 2" RELATED [OMIM:266300] -synonym: "UV-induced skin damage" EXACT [OMIM:266300, OMIM:genemap2] -synonym: "UV-induced skin damage, susceptibility to" RELATED [OMIM:266300] +synonym: "Blond hair/fair skin" RELATED [] +synonym: "hair color 2" RELATED [] +synonym: "Red hair color" RELATED [] +synonym: "Rha" RELATED [] +synonym: "SHEP2" RELATED ABBREVIATION [] +synonym: "skin/hair/eye pigmentation 2, blond hair/fair skin" EXACT [] +synonym: "skin/hair/eye pigmentation 2, red hair/fair skin" EXACT [] +synonym: "skin/hair/eye pigmentation, variation IN, 2" RELATED [] +synonym: "UV-induced skin damage" EXACT [] +synonym: "UV-induced skin damage, susceptibility to" RELATED [] xref: OMIM:266300 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525803,9 +525897,9 @@ is_obsolete: true id: MONDO:0044260 name: obsolete ec1 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "EC1" RELATED ABBREVIATION [OMIM:272370] -synonym: "natural Killer cell susceptibility 1" RELATED [OMIM:272370] -synonym: "susceptibility to lysis by ALLOREACTIVE natural KILLER cells" RELATED [OMIM:272370] +synonym: "EC1" RELATED ABBREVIATION [] +synonym: "natural Killer cell susceptibility 1" RELATED [] +synonym: "susceptibility to lysis by ALLOREACTIVE natural KILLER cells" RELATED [] xref: HGNC:7832 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525813,9 +525907,9 @@ is_obsolete: true id: MONDO:0044261 name: obsolete menoq1 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "menopause, natural, age at, QTL1, X-linked dominant" EXACT [OMIM:300488, OMIM:genemap2] -synonym: "menopause, natural, AGE AT, quantitative trait locus 1" RELATED [OMIM:300488] -synonym: "MENOQ1" RELATED ABBREVIATION [OMIM:300488] +synonym: "menopause, natural, age at, QTL1, X-linked dominant" EXACT [] +synonym: "menopause, natural, AGE AT, quantitative trait locus 1" RELATED [] +synonym: "MENOQ1" RELATED ABBREVIATION [] xref: OMIM:300488 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525824,7 +525918,7 @@ is_obsolete: true id: MONDO:0044262 name: obsolete cyanide, inability to smell comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "cyanide, inability to smell" RELATED [OMIM:304300] +synonym: "cyanide, inability to smell" RELATED [] xref: OMIM:304300 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525833,9 +525927,9 @@ id: MONDO:0044263 name: obsolete lutheran suppressor, x-linked def: "OBSOLETE. An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420." [OMIM:309050] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "Lutheran suppressor, X-linked" RELATED [OMIM:309050] -synonym: "LuxS" RELATED [OMIM:309050] -synonym: "XS" RELATED ABBREVIATION [OMIM:309050] +synonym: "Lutheran suppressor, X-linked" RELATED [] +synonym: "LuxS" RELATED [] +synonym: "XS" RELATED ABBREVIATION [] xref: HGNC:12837 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525843,7 +525937,7 @@ is_obsolete: true id: MONDO:0044264 name: obsolete radial loop, plain, on right index finger comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "radial loop, plain, ON right index finger" RELATED [OMIM:312200] +synonym: "radial loop, plain, ON right index finger" RELATED [] xref: OMIM:312200 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525851,7 +525945,7 @@ is_obsolete: true id: MONDO:0044265 name: obsolete tooth size comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "tooth size" RELATED [OMIM:314240] +synonym: "tooth size" RELATED [] xref: OMIM:314240 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525860,7 +525954,7 @@ id: MONDO:0044266 name: obsolete xm system def: "OBSOLETE. Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage." [OMIM:314900] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "XM system" RELATED [OMIM:314900] +synonym: "XM system" RELATED [] xref: HGNC:12813 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525868,10 +525962,10 @@ is_obsolete: true id: MONDO:0044267 name: obsolete gcy comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "GCY" RELATED ABBREVIATION [OMIM:475000] -synonym: "growth control, Y-chromosome influenced" RELATED [OMIM:475000] -synonym: "stature" RELATED [OMIM:475000] -synonym: "tooth size" RELATED [OMIM:475000] +synonym: "GCY" RELATED ABBREVIATION [] +synonym: "growth control, Y-chromosome influenced" RELATED [] +synonym: "stature" RELATED [] +synonym: "tooth size" RELATED [] xref: HGNC:4211 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525879,7 +525973,7 @@ is_obsolete: true id: MONDO:0044268 name: obsolete transsexuality comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "TRANSSEXUALITY" RELATED ABBREVIATION [OMIM:600952] +synonym: "TRANSSEXUALITY" RELATED ABBREVIATION [] xref: OMIM:600952 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525888,8 +525982,8 @@ id: MONDO:0044269 name: obsolete novelty seeking personality trait def: "OBSOLETE. Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related." [OMIM:601696] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "novelty seeking personality trait" RELATED [OMIM:601696] -synonym: "risk-taking behavior" RELATED [OMIM:601696] +synonym: "novelty seeking personality trait" RELATED [] +synonym: "risk-taking behavior" RELATED [] xref: OMIM:601696 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525897,9 +525991,9 @@ is_obsolete: true id: MONDO:0044270 name: obsolete bilirubin, serum level of, quantitative trait locus 1 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "BILIQTL1" RELATED ABBREVIATION [OMIM:601816] -synonym: "bilirubin, serum level of, QTL1" EXACT [OMIM:601816, OMIM:genemap2] -synonym: "bilirubin, serum level OF, quantitative trait locus 1" RELATED [OMIM:601816] +synonym: "BILIQTL1" RELATED ABBREVIATION [] +synonym: "bilirubin, serum level of, QTL1" EXACT [] +synonym: "bilirubin, serum level OF, quantitative trait locus 1" RELATED [] xref: OMIM:601816 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525908,11 +526002,11 @@ is_obsolete: true id: MONDO:0044271 name: obsolete bone mineral density quantitative trait locus 1 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "BMND1" RELATED ABBREVIATION [OMIM:601884] -synonym: "bone mineral density quantitative trait locus 1" RELATED [OMIM:601884] -synonym: "bone mineral density variability 1" EXACT [OMIM:601884, OMIM:genemap2] -synonym: "high bone Mass" RELATED [OMIM:601884] -synonym: "osteoporosis, susceptibility to" RELATED [OMIM:601884] +synonym: "BMND1" RELATED ABBREVIATION [] +synonym: "bone mineral density quantitative trait locus 1" RELATED [] +synonym: "bone mineral density variability 1" EXACT [] +synonym: "high bone Mass" RELATED [] +synonym: "osteoporosis, susceptibility to" RELATED [] xref: OMIM:601884 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525921,10 +526015,10 @@ is_obsolete: true id: MONDO:0044272 name: obsolete body mass index quantitative trait locus 9 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "BMIQ9" RELATED ABBREVIATION [OMIM:602025] -synonym: "body MASS index quantitative trait locus 9" RELATED [OMIM:602025] -synonym: "obesity, severe, susceptibility to, BMIQ9" EXACT [OMIM:602025, OMIM:genemap2] -synonym: "obesity, susceptibility to" RELATED [OMIM:602025] +synonym: "BMIQ9" RELATED ABBREVIATION [] +synonym: "body MASS index quantitative trait locus 9" RELATED [] +synonym: "obesity, severe, susceptibility to, BMIQ9" EXACT [] +synonym: "obesity, susceptibility to" RELATED [] xref: OMIM:602025 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525933,7 +526027,7 @@ is_obsolete: true id: MONDO:0044273 name: obsolete hypertension, diastolic, resistance to comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "hypertension, diastolic, resistance to" RELATED [OMIM:608622] +synonym: "hypertension, diastolic, resistance to" RELATED [] xref: OMIM:608622 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525942,10 +526036,10 @@ id: MONDO:0044274 name: obsolete hemoglobin, high altitude adaptation def: "OBSOLETE. Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014})." [OMIM:609070] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "HALAH" RELATED ABBREVIATION [OMIM:609070] -synonym: "HEMOGLOBIN, high altitude adaptation" RELATED [OMIM:609070] -synonym: "hemoglobin, high altitude adaptation" EXACT [OMIM:609070, OMIM:genemap2] -synonym: "Hemoglobin, high oxygen saturation of" RELATED [OMIM:609070] +synonym: "HALAH" RELATED ABBREVIATION [] +synonym: "HEMOGLOBIN, high altitude adaptation" RELATED [] +synonym: "hemoglobin, high altitude adaptation" EXACT [] +synonym: "Hemoglobin, high oxygen saturation of" RELATED [] xref: OMIM:609070 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525954,9 +526048,9 @@ is_obsolete: true id: MONDO:0044275 name: obsolete carotid intimal medial thickness 1 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "carotid intimal medial thickness 1" RELATED [OMIM:609338] -synonym: "Cimt1" RELATED [OMIM:609338] -synonym: "intimal medial thickness of internal carotid artery" RELATED [OMIM:609338] +synonym: "carotid intimal medial thickness 1" RELATED [] +synonym: "Cimt1" RELATED [] +synonym: "intimal medial thickness of internal carotid artery" RELATED [] xref: OMIM:609338 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525964,11 +526058,11 @@ is_obsolete: true id: MONDO:0044276 name: obsolete skin/hair/eye pigmentation, variation in, 11 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "Melanesian blond hair" RELATED [OMIM:612271] -synonym: "SHEP11" RELATED ABBREVIATION [OMIM:612271] -synonym: "skin/hair/eye pigmentation 11, blue/Nonblue eyes" RELATED [OMIM:612271] -synonym: "skin/hair/eye pigmentation, variation IN, 11" RELATED [OMIM:612271] -synonym: "skin/hair/eye pigmentation, variation in, 11 (melanesian blond hair)" EXACT [OMIM:612271, OMIM:genemap2] +synonym: "Melanesian blond hair" RELATED [] +synonym: "SHEP11" RELATED ABBREVIATION [] +synonym: "skin/hair/eye pigmentation 11, blue/Nonblue eyes" RELATED [] +synonym: "skin/hair/eye pigmentation, variation IN, 11" RELATED [] +synonym: "skin/hair/eye pigmentation, variation in, 11 (melanesian blond hair)" EXACT [] xref: OMIM:612271 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525977,10 +526071,10 @@ is_obsolete: true id: MONDO:0044277 name: obsolete uric acid concentration, serum, quantitative trait locus 4 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "gout susceptibility 4" RELATED [OMIM:612671] -synonym: "UAQTL4" RELATED ABBREVIATION [OMIM:612671] -synonym: "Uric acid concentration, serum, QTL4" EXACT [OMIM:612671, OMIM:genemap2] -synonym: "uric acid concentration, serum, quantitative trait locus 4" RELATED [OMIM:612671] +synonym: "gout susceptibility 4" RELATED [] +synonym: "UAQTL4" RELATED ABBREVIATION [] +synonym: "Uric acid concentration, serum, QTL4" EXACT [] +synonym: "uric acid concentration, serum, quantitative trait locus 4" RELATED [] xref: OMIM:612671 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -525990,8 +526084,8 @@ id: MONDO:0044278 name: obsolete short sleeper def: "OBSOLETE. In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset." [OMIM:612975] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "short sleep phenotype" RELATED [OMIM:612975] -synonym: "short sleeper" RELATED [OMIM:612975] +synonym: "short sleep phenotype" RELATED [] +synonym: "short sleeper" RELATED [] xref: OMIMPS:612975 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -525999,12 +526093,12 @@ is_obsolete: true id: MONDO:0044279 name: obsolete bone mineral density quantitative trait locus 15 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "BMND15" RELATED ABBREVIATION [OMIM:613418] -synonym: "bone mineral density QTL 15" EXACT [OMIM:613418, OMIM:genemap2] -synonym: "bone mineral density quantitative trait locus 15" RELATED [OMIM:613418] -synonym: "compression fracture, susceptibility to" RELATED [OMIM:613418] -synonym: "metaphyseal fracture, susceptibility to" RELATED [OMIM:613418] -synonym: "osteoporosis, susceptibility to" RELATED [OMIM:613418] +synonym: "BMND15" RELATED ABBREVIATION [] +synonym: "bone mineral density QTL 15" EXACT [] +synonym: "bone mineral density quantitative trait locus 15" RELATED [] +synonym: "compression fracture, susceptibility to" RELATED [] +synonym: "metaphyseal fracture, susceptibility to" RELATED [] +synonym: "osteoporosis, susceptibility to" RELATED [] xref: OMIM:613418 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -526013,11 +526107,11 @@ is_obsolete: true id: MONDO:0044280 name: obsolete glycerol quantitative trait locus comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "body Mass index quantitative trait locus 17" RELATED [OMIM:614411] -synonym: "GLYCEROL quantitative trait locus" RELATED [OMIM:614411] -synonym: "glycerol quantitative trait locus" EXACT [OMIM:614411, OMIM:genemap2] -synonym: "Glycerol release during exercise, defective" RELATED [OMIM:614411] -synonym: "GLYCQTL" RELATED ABBREVIATION [OMIM:614411] +synonym: "body Mass index quantitative trait locus 17" RELATED [] +synonym: "GLYCEROL quantitative trait locus" RELATED [] +synonym: "glycerol quantitative trait locus" EXACT [] +synonym: "Glycerol release during exercise, defective" RELATED [] +synonym: "GLYCQTL" RELATED ABBREVIATION [] xref: OMIM:614411 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -526027,7 +526121,7 @@ id: MONDO:0044281 name: obsolete c3hex, ability to smell def: "OBSOLETE. Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010})." [OMIM:615082] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "C3HEX, ability to smell" EXACT [OMIM:615082, OMIM:genemap2] +synonym: "C3HEX, ability to smell" EXACT [] xref: OMIM:615082 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -526037,10 +526131,10 @@ id: MONDO:0044282 name: obsolete blood group, vel system def: "OBSOLETE. The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013})." [OMIM:615264] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "blood group, VEL system" RELATED [OMIM:615264] -synonym: "blood group, Vel system" EXACT [OMIM:615264, OMIM:genemap2] -synonym: "VEL" RELATED ABBREVIATION [OMIM:615264] -synonym: "Vel-null phenotype" RELATED [OMIM:615264] +synonym: "blood group, VEL system" RELATED [] +synonym: "blood group, Vel system" EXACT [] +synonym: "VEL" RELATED ABBREVIATION [] +synonym: "Vel-null phenotype" RELATED [] xref: OMIM:615264 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -526049,10 +526143,10 @@ is_obsolete: true id: MONDO:0044283 name: obsolete body mass index quantitative trait locus 18 comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "BMIQ18" RELATED ABBREVIATION [OMIM:615457] -synonym: "body MASS index quantitative trait locus 18" RELATED [OMIM:615457] -synonym: "obesity, susceptibility to" RELATED [OMIM:615457] -synonym: "obesity, susceptibility to, BMIQ18" EXACT [OMIM:615457, OMIM:genemap2] +synonym: "BMIQ18" RELATED ABBREVIATION [] +synonym: "body MASS index quantitative trait locus 18" RELATED [] +synonym: "obesity, susceptibility to" RELATED [] +synonym: "obesity, susceptibility to, BMIQ18" EXACT [] xref: OMIM:615457 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -526062,10 +526156,10 @@ id: MONDO:0044284 name: obsolete blood group, gerbich system def: "OBSOLETE. The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010})." [OMIM:616089] comment: Obsoleted as it represents a trait or is a legacy entry -synonym: "blood group, Gerbich" EXACT [OMIM:616089, OMIM:genemap2] -synonym: "blood group, Gerbich system" RELATED [OMIM:616089] -synonym: "GE" RELATED ABBREVIATION [OMIM:616089] -synonym: "Gerbich blood Group system" RELATED [OMIM:616089] +synonym: "blood group, Gerbich" EXACT [] +synonym: "blood group, Gerbich system" RELATED [] +synonym: "GE" RELATED ABBREVIATION [] +synonym: "Gerbich blood Group system" RELATED [] xref: OMIM:616089 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -526076,9 +526170,9 @@ name: myasthenic syndrome, congenital, 22 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMS22" RELATED ABBREVIATION [OMIM:616224] +synonym: "CMS22" RELATED ABBREVIATION [] synonym: "myasthenic syndrome, congenital, 22" EXACT CLINGEN_LABEL [OMIM:616224] -synonym: "Prepl deficiency" RELATED [OMIM:616224] +synonym: "Prepl deficiency" RELATED [] xref: DOID:0080587 {source="MONDO:equivalentTo"} xref: MEDGEN:1393545 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616224 {source="MONDO:equivalentTo"} @@ -526096,11 +526190,11 @@ def: "An autosomal recessive tumor predisposition syndrome characterized by the subset: gard_rare {source="GARD:17868", source="MONDO:GARD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:480536"} subset: rare -synonym: "familial adenomatous polyposis 4" EXACT [OMIM:617100] -synonym: "familial adenomatous polyposis type 4" EXACT [MONDORULE:1, OMIM:617100] +synonym: "familial adenomatous polyposis 4" EXACT [DOID:0080412, OMIM:617100] +synonym: "familial adenomatous polyposis type 4" EXACT [MONDORULE:1] synonym: "FAP4" EXACT ABBREVIATION [OMIM:617100] synonym: "MSH3-related AFAP" EXACT [Orphanet:480536] -synonym: "MSH3-related attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40023/, MONDO:0018812] +synonym: "MSH3-related attenuated familial adenomatous polyposis" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40023/, MONDO:0018812, Orphanet:480536] synonym: "MSH3-related attenuated familial polyposis coli" EXACT [Orphanet:480536] synonym: "MSH3-related attenuated FAP" EXACT [Orphanet:480536] xref: DOID:0080412 {source="MONDO:equivalentTo"} @@ -526119,7 +526213,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0044301 name: aortic aneurysm, familial thoracic 11, susceptibility to subset: predisposition -synonym: "AAT11" RELATED ABBREVIATION [OMIM:617349] +synonym: "AAT11" RELATED ABBREVIATION [] synonym: "aortic aneurysm, familial thoracic 11, susceptibility to" EXACT [OMIM:617349] xref: MEDGEN:1377970 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617349 {source="MONDO:equivalentTo"} @@ -526136,9 +526230,9 @@ subset: ordo_disorder {source="Orphanet:646278"} subset: orphanet_rare {source="Orphanet:646278"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome" EXACT [Orphanet:646278] -synonym: "CHDFIDD" RELATED ABBREVIATION [OMIM:617360] -synonym: "congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder" RELATED [OMIM:617360] +synonym: "CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome" EXACT [] +synonym: "CHDFIDD" RELATED ABBREVIATION [] +synonym: "congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder" RELATED [] xref: DOID:0112247 {source="MONDO:equivalentTo"} xref: MEDGEN:1385307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617360 {source="MONDO:equivalentTo"} @@ -526151,7 +526245,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0044303 name: congenital heart defects and ectodermal dysplasia subset: otar {source="MONDO:OTAR"} -synonym: "CHDED" RELATED ABBREVIATION [OMIM:617364] +synonym: "CHDED" RELATED ABBREVIATION [] synonym: "congenital heart defects and ectodermal dysplasia" EXACT [OMIM:617364] xref: MEDGEN:1387409 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617364 {source="MONDO:equivalentTo"} @@ -526172,9 +526266,9 @@ subset: ordo_disorder {source="Orphanet:508523"} subset: orphanet_rare {source="Orphanet:508523"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HPANBH4" RELATED ABBREVIATION [OMIM:617384] -synonym: "hyperphenylalaninemia due to DNAJC12 deficiency" EXACT CLINGEN_LABEL [] -synonym: "hyperphenylalaninemia, mild, non-BH4-deficient" RELATED [OMIM:617384] +synonym: "HPANBH4" RELATED ABBREVIATION [] +synonym: "hyperphenylalaninemia due to DNAJC12 deficiency" EXACT CLINGEN_LABEL [Orphanet:508523] +synonym: "hyperphenylalaninemia, mild, non-BH4-deficient" RELATED [] xref: GARD:17950 {source="MONDO:GARD"} xref: MEDGEN:1391882 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617384 {source="MONDO:equivalentTo", source="Orphanet:508523"} @@ -526195,8 +526289,8 @@ name: ectodermal dysplasia 13, hair/tooth type subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECTD13" RELATED ABBREVIATION [OMIM:617392] -synonym: "ectodermal dysplasia 13, hair/tooth type" EXACT [OMIM:617392] +synonym: "ECTD13" RELATED ABBREVIATION [] +synonym: "ectodermal dysplasia 13, hair/tooth type" EXACT [DOID:0111650, OMIM:617392] xref: DOID:0111650 {source="MONDO:equivalentTo"} xref: MEDGEN:1387448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617392 {source="MONDO:equivalentTo"} @@ -526214,9 +526308,9 @@ subset: ordo_disorder {source="Orphanet:500545"} subset: orphanet_rare {source="Orphanet:500545"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NECFM" RELATED ABBREVIATION [OMIM:617393] +synonym: "NECFM" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" EXACT [OMIM:617393] -synonym: "severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract" RELATED [Orphanet:500545] +synonym: "severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract" RELATED [] xref: GARD:17930 {source="MONDO:GARD"} xref: MEDGEN:1377894 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617393 {source="Orphanet:500545", source="MONDO:equivalentTo"} @@ -526238,8 +526332,8 @@ def: "BBS21 is an autosomal recessive ciliopathy characterized by obesity, posta subset: gard_rare {source="GARD:16226", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Bardet-Biedl syndrome 21" RELATED [OMIM:617406] -synonym: "BBS21" RELATED ABBREVIATION [OMIM:617406] +synonym: "Bardet-Biedl syndrome 21" RELATED [] +synonym: "BBS21" RELATED ABBREVIATION [] xref: DOID:0081010 {source="MONDO:equivalentTo"} xref: GARD:16226 {source="MONDO:GARD"} xref: MEDGEN:1374358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -526256,8 +526350,8 @@ name: Diamond-Blackfan anemia 16 subset: gard_rare {source="GARD:16227", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA16" RELATED ABBREVIATION [OMIM:617408] -synonym: "Diamond-Blackfan anemia 16" EXACT [OMIM:617408] +synonym: "DBA16" RELATED ABBREVIATION [] +synonym: "Diamond-Blackfan anemia 16" EXACT [DOID:0111893, OMIM:617408] xref: DOID:0111893 {source="MONDO:equivalentTo"} xref: GARD:16227 {source="MONDO:GARD"} xref: MEDGEN:1385861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -526272,8 +526366,8 @@ name: Diamond-Blackfan anemia 17 subset: gard_rare {source="GARD:16228", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DBA17" RELATED ABBREVIATION [OMIM:617409] -synonym: "Diamond-Blackfan anemia 17" EXACT [OMIM:617409] +synonym: "DBA17" RELATED ABBREVIATION [] +synonym: "Diamond-Blackfan anemia 17" EXACT [DOID:0111880, OMIM:617409] xref: DOID:0111880 {source="MONDO:equivalentTo"} xref: GARD:16228 {source="MONDO:GARD"} xref: MEDGEN:1373199 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -526286,9 +526380,9 @@ is_a: MONDO:0015253 {source="DOID:0111880", source="OMIM:617409"} ! Diamond-Blac id: MONDO:0044311 name: brachycephaly, trichomegaly, and developmental delay def: "BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017})." [OMIM:617412] -synonym: "brachycephaly, trichomegaly, and developmental delay" EXACT [OMIM:617412] -synonym: "BTDD" RELATED ABBREVIATION [OMIM:617412] -synonym: "Macinnes syndrome" RELATED [OMIM:617412] +synonym: "brachycephaly, trichomegaly, and developmental delay" EXACT [DOID:0070415, OMIM:617412] +synonym: "BTDD" RELATED ABBREVIATION [] +synonym: "Macinnes syndrome" RELATED [] xref: DOID:0070415 {source="MONDO:equivalentTo"} xref: MEDGEN:1374289 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617412 {source="MONDO:equivalentTo"} @@ -526303,8 +526397,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities" RELATED [OMIM:617425] -synonym: "ISDNA" RELATED ABBREVIATION [OMIM:617425] +synonym: "IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities" RELATED [] +synonym: "ISDNA" RELATED ABBREVIATION [] xref: MEDGEN:1381460 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617425 {source="MONDO:equivalentTo"} xref: UMLS:C4479452 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1381460"} @@ -526319,9 +526413,9 @@ name: intellectual disability, autosomal recessive 60 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 60" EXACT [OMIM:617432] -synonym: "mental retardation, autosomal recessive 60" RELATED DEPRECATED [OMIM:617432] -synonym: "MRT60" RELATED DEPRECATED [OMIM:617432] +synonym: "intellectual disability, autosomal recessive 60" EXACT [] +synonym: "mental retardation, autosomal recessive 60" RELATED DEPRECATED [] +synonym: "MRT60" RELATED DEPRECATED [] xref: DOID:0081222 {source="MONDO:equivalentTo"} xref: MEDGEN:1373351 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617432 {source="MONDO:equivalentTo"} @@ -526336,7 +526430,7 @@ subset: gard_rare {source="GARD:16229", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "retinitis pigmentosa 78" EXACT [OMIM:617433] -synonym: "RP78" RELATED ABBREVIATION [OMIM:617433] +synonym: "RP78" RELATED ABBREVIATION [] xref: GARD:16229 {source="MONDO:GARD"} xref: MEDGEN:1378790 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617433 {source="MONDO:equivalentTo"} @@ -526349,11 +526443,11 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0044315 name: craniosynostosis 7 def: "Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100)." [OMIM:617439] -synonym: "craniosynostosis 7" EXACT [OMIM:617439] -synonym: "craniosynostosis 7, digenic" RELATED [OMIM:617439] -synonym: "craniosynostosis 7, susceptibility to" EXACT [OMIM:617439, OMIM:genemap2] -synonym: "CRS7" RELATED ABBREVIATION [OMIM:617439] -synonym: "Crs7, digenic" RELATED [OMIM:617439] +synonym: "craniosynostosis 7" EXACT [DOID:0060912, OMIM:617439] +synonym: "craniosynostosis 7, digenic" RELATED [] +synonym: "craniosynostosis 7, susceptibility to" EXACT [] +synonym: "CRS7" RELATED ABBREVIATION [] +synonym: "Crs7, digenic" RELATED [] xref: DOID:0060912 {source="MONDO:equivalentTo"} xref: MEDGEN:1392447 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617439 {source="MONDO:equivalentTo"} @@ -526369,7 +526463,7 @@ id: MONDO:0044316 name: thrombocytopenia, anemia, and myelofibrosis subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "THAMY" RELATED ABBREVIATION [OMIM:617441] +synonym: "THAMY" RELATED ABBREVIATION [] synonym: "thrombocytopenia, anemia, and myelofibrosis" EXACT CLINGEN_LABEL [OMIM:617441] xref: MEDGEN:1378448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617441 {source="MONDO:equivalentTo"} @@ -526383,7 +526477,7 @@ name: premature ovarian failure 13 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "POF13" RELATED ABBREVIATION [OMIM:617442] +synonym: "POF13" RELATED ABBREVIATION [] synonym: "premature ovarian failure 13" EXACT [OMIM:617442] xref: DOID:0080870 {source="MONDO:equivalentTo"} xref: MEDGEN:1393321 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -526401,9 +526495,9 @@ subset: ordo_disorder {source="Orphanet:653767"} subset: orphanet_rare {source="Orphanet:653767"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IDDGIP" RELATED ABBREVIATION [OMIM:617450] -synonym: "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" EXACT [OMIM:617450] -synonym: "Jansen de Vries syndrome" EXACT [OMIM:617450, OMIM:genemap2] +synonym: "IDDGIP" RELATED ABBREVIATION [] +synonym: "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" EXACT [] +synonym: "Jansen de Vries syndrome" EXACT [] xref: MEDGEN:1385744 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617450 {source="MONDO:equivalentTo"} xref: Orphanet:653767 {source="MONDO:equivalentTo"} @@ -526427,7 +526521,7 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:505237"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IDDFSDA" RELATED ABBREVIATION [OMIM:617452] +synonym: "IDDFSDA" RELATED ABBREVIATION [] synonym: "intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies" EXACT [OMIM:617452] xref: GARD:17942 {source="MONDO:GARD"} xref: MEDGEN:1375601 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -526447,7 +526541,7 @@ subset: gard_rare {source="GARD:16231", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "retinitis pigmentosa 79" EXACT [OMIM:617460] -synonym: "RP79" RELATED ABBREVIATION [OMIM:617460] +synonym: "RP79" RELATED ABBREVIATION [] xref: GARD:16231 {source="MONDO:GARD"} xref: MEDGEN:1386200 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617460 {source="MONDO:equivalentTo"} @@ -526461,7 +526555,7 @@ id: MONDO:0044321 name: structural heart defects and renal anomalies syndrome subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "SHDRA" RELATED ABBREVIATION [OMIM:617478] +synonym: "SHDRA" RELATED ABBREVIATION [] synonym: "structural heart defects and renal anomalies syndrome" EXACT [OMIM:617478] xref: MEDGEN:1387412 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617478 {source="MONDO:equivalentTo"} @@ -526476,7 +526570,7 @@ id: MONDO:0044322 name: intellectual developmental disorder with neuropsychiatric features def: "Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017})." [OMIM:617532] subset: otar {source="MONDO:OTAR"} -synonym: "IDDNPF" RELATED ABBREVIATION [OMIM:617532] +synonym: "IDDNPF" RELATED ABBREVIATION [] synonym: "intellectual developmental disorder with neuropsychiatric features" EXACT [OMIM:617532] xref: MEDGEN:1379216 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617532 {source="MONDO:equivalentTo"} @@ -526497,8 +526591,8 @@ subset: ordo_disorder {source="Orphanet:642763"} subset: orphanet_rare {source="Orphanet:642763"} subset: rare synonym: "autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation" EXACT [Orphanet:642763] -synonym: "Rahman syndrome" EXACT CLINGEN_LABEL [OMIM:617537] -synonym: "RMNS" RELATED ABBREVIATION [OMIM:617537] +synonym: "Rahman syndrome" EXACT CLINGEN_LABEL [OMIM:617537, Orphanet:642763] +synonym: "RMNS" RELATED ABBREVIATION [] xref: GARD:13422 {source="MONDO:GARD"} xref: MEDGEN:1388282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617537 {source="MONDO:equivalentTo"} @@ -526517,9 +526611,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AL KAISSI syndrome" RELATED [OMIM:617694] -synonym: "ALKAS" RELATED ABBREVIATION [OMIM:617694] -synonym: "Growth retardation, spine malformation, dysmorphic facies, and developmental delay" RELATED [OMIM:617694] +synonym: "AL KAISSI syndrome" RELATED [] +synonym: "ALKAS" RELATED ABBREVIATION [] +synonym: "Growth retardation, spine malformation, dysmorphic facies, and developmental delay" RELATED [] xref: MEDGEN:1611968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617694 {source="MONDO:equivalentTo"} xref: UMLS:C4540156 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1611968"} @@ -526535,7 +526629,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Fanconi anemia, complementation group W" EXACT [OMIM:617784] -synonym: "FANCW" RELATED ABBREVIATION [OMIM:617784] +synonym: "FANCW" RELATED ABBREVIATION [] xref: DOID:0060978 {source="MONDO:equivalentTo"} xref: MEDGEN:1621245 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617784 {source="MONDO:equivalentTo"} @@ -526550,8 +526644,8 @@ subset: gard_rare {source="GARD:16261", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEDSM" RELATED ABBREVIATION [OMIM:617836] -synonym: "developmental delay and seizures with or without movement abnormalities" EXACT [OMIM:617836] +synonym: "DEDSM" RELATED ABBREVIATION [] +synonym: "developmental delay and seizures with or without movement abnormalities" EXACT [DOID:0080473, OMIM:617836] xref: DOID:0080473 {source="MONDO:equivalentTo"} xref: GARD:16261 {source="MONDO:GARD"} xref: MEDGEN:1641343 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -526571,7 +526665,7 @@ def: "An autosomal dominant disease characterized by adult-onset of liver cysts subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PCLD4" RELATED ABBREVIATION [OMIM:617875] +synonym: "PCLD4" RELATED ABBREVIATION [] synonym: "polycystic liver disease 4 with or without kidney cysts" EXACT [OMIM:617875] xref: DOID:0060977 {source="MONDO:equivalentTo"} xref: MEDGEN:1644991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -526591,7 +526685,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "short-rib thoracic dysplasia 20 with polydactyly" EXACT [OMIM:617925] -synonym: "SRTD20" RELATED ABBREVIATION [OMIM:617925] +synonym: "SRTD20" RELATED ABBREVIATION [] xref: MEDGEN:1634931 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617925 {source="MONDO:equivalentTo"} xref: UMLS:C4693616 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1634931"} @@ -526604,8 +526698,8 @@ def: "Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital b subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "OI18" RELATED ABBREVIATION [OMIM:617952] -synonym: "osteogenesis imperfecta, type XVIII" RELATED [OMIM:617952] +synonym: "OI18" RELATED ABBREVIATION [] +synonym: "osteogenesis imperfecta, type XVIII" RELATED [] xref: DOID:0111848 {source="MONDO:equivalentTo"} xref: MEDGEN:1635201 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617952 {source="MONDO:equivalentTo"} @@ -526622,8 +526716,8 @@ def: "Hyperekplexia-4 is an autosomal recessive severe neurologic disorder appar subset: gard_rare {source="GARD:16284", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HKPX4" RELATED ABBREVIATION [OMIM:618011] -synonym: "hyperekplexia 4" EXACT [OMIM:618011] +synonym: "HKPX4" RELATED ABBREVIATION [] +synonym: "hyperekplexia 4" EXACT [DOID:0080581, OMIM:618011] xref: DOID:0080581 {source="MONDO:equivalentTo"} xref: GARD:16284 {source="MONDO:GARD"} xref: MEDGEN:1642659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -526784,14 +526878,14 @@ synonym: "degenerative disc disease" BROAD OMO:0003005 [] synonym: "degenerative disc disorder" BROAD OMO:0003005 [] synonym: "degenerative disk disease" BROAD [EFO:0004994] synonym: "degenerative disk disorder" BROAD [EFO:0004994] -synonym: "IDD" BROAD ABBREVIATION [OMIM:603932] +synonym: "IDD" BROAD ABBREVIATION [] synonym: "intervertebral disc degenerative disorder of lumbar region of vertebral column" EXACT OMO:0003005 [] -synonym: "intervertebral DISC disease" BROAD [OMIM:603932] +synonym: "intervertebral DISC disease" BROAD [] synonym: "intervertebral disc disease" BROAD OMO:0003005 [] synonym: "intervertebral disc disease, susceptibility to" EXACT OMO:0003005 [] synonym: "intervertebral disk degenerative disorder of lumbar region of vertebral column" EXACT [MONDO:design_pattern] synonym: "intervertebral disk disease" BROAD [EFO:0004994] -synonym: "intervertebral disk disease, susceptibility to" EXACT [OMIM:603932, OMIM:genemap2] +synonym: "intervertebral disk disease, susceptibility to" EXACT [] synonym: "lumbar Disc Degeneration" EXACT [NCIT:C27154] synonym: "lumbar disc degeneration, susceptibility to" RELATED OMO:0003005 [] synonym: "lumbar Disc degenerative disease" EXACT [NCIT:C27154] @@ -526799,10 +526893,10 @@ synonym: "lumbar Disc degenerative disorder" EXACT [NCIT:C27154] synonym: "lumbar disc disease" RELATED OMO:0003005 [] synonym: "lumbar disc disease, susceptibility to" EXACT OMO:0003005 [] synonym: "lumbar disc herniation, susceptibility to" RELATED OMO:0003005 [] -synonym: "lumbar disk degeneration, susceptibility to" RELATED [OMIM:603932] -synonym: "lumbar disk disease" RELATED [OMIM:603932] -synonym: "lumbar disk disease, susceptibility to" EXACT [OMIM:603932, OMIM:genemap2] -synonym: "lumbar disk herniation, susceptibility to" RELATED [OMIM:603932] +synonym: "lumbar disk degeneration, susceptibility to" RELATED [] +synonym: "lumbar disk disease" RELATED [] +synonym: "lumbar disk disease, susceptibility to" EXACT [] +synonym: "lumbar disk herniation, susceptibility to" RELATED [] synonym: "lumbar region of vertebral column intervertebral disc degenerative disorder" EXACT OMO:0003005 [] synonym: "lumbar region of vertebral column intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location] xref: MEDGEN:57852 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -527111,7 +527205,7 @@ subset: ordo_disorder {source="Orphanet:485405"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:485405"} subset: rare -synonym: "tetrasomy 16p12.1-p12.3" EXACT [Orphanet:485405] +synonym: "tetrasomy 16p12.1-p12.3" EXACT [] synonym: "tetrasomy 16p12.1p12.3" EXACT [Orphanet:485405] synonym: "trip(16)(p12.1p12.3)" EXACT [Orphanet:485405] xref: GARD:21993 {source="MONDO:GARD"} @@ -527264,7 +527358,8 @@ subset: ordo_morphological_anomaly subset: orphanet_rare {source="Orphanet:494424"} subset: rare synonym: "ECAA" EXACT ABBREVIATION [Orphanet:494424] -synonym: "Ecca" EXACT [Orphanet:494424] +synonym: "ECCA" EXACT ABBREVIATION [Orphanet:494424] +synonym: "Ecca" EXACT [] xref: GARD:22003 {source="MONDO:GARD"} xref: MEDGEN:1393749 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:494424 {source="MONDO:equivalentTo"} @@ -527300,7 +527395,7 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:494439"} subset: rare synonym: "retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome" EXACT [Orphanet:494439] -synonym: "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" EXACT [OMIM:617763, OMIM:genemap2] +synonym: "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" EXACT [DOID:0081175, OMIM:617763] xref: DOID:0081175 {source="MONDO:equivalentTo"} xref: GARD:17903 {source="MONDO:GARD"} xref: MEDGEN:1615526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -527384,7 +527479,7 @@ synonym: "hypopharyngeal epidermoid carcinoma" EXACT [NCIT:C4043] synonym: "hypopharyngeal squamous cell carcinoma" EXACT [NCIT:C4043] synonym: "hypopharyngeal throat squamous cell cancer" EXACT [NCIT:C4043] synonym: "squamous cell carcinoma of hypopharynx" EXACT [NCIT:C4043] -synonym: "squamous cell carcinoma of the hypopharynx" RELATED [Orphanet:494547] +synonym: "squamous cell carcinoma of the hypopharynx" RELATED [] xref: EFO:1001960 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:17907 {source="MONDO:GARD"} xref: icd11.foundation:680629191 {source="MONDO:equivalentTo", source="Orphanet:494547", source="https://orcid.org/0000-0002-4142-7153"} @@ -527408,7 +527503,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:495274"} subset: orphanet_rare {source="Orphanet:495274"} subset: rare -synonym: "AR-CMT2T" EXACT [Orphanet:495274] +synonym: "AR-CMT2T" EXACT ABBREVIATION [Orphanet:495274] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2T" EXACT [Orphanet:495274] synonym: "CMT2T" EXACT ABBREVIATION [Orphanet:495274] xref: GARD:17909 {source="MONDO:GARD"} @@ -527424,10 +527519,10 @@ subset: ordo_disorder {source="Orphanet:495818"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:495818"} subset: rare -synonym: "9q33.3-q34.11 microdeletion syndrome" EXACT [Orphanet:495818] +synonym: "9q33.3-q34.11 microdeletion syndrome" EXACT [] synonym: "Del(9)(q33.3q34.11)" EXACT [Orphanet:495818] synonym: "deletion 9q33.3q34.11" EXACT [Orphanet:495818] -synonym: "monosomy 9q33.3-q34.11" EXACT [Orphanet:495818] +synonym: "monosomy 9q33.3-q34.11" EXACT [] synonym: "monosomy 9q33.3q34.11" EXACT [Orphanet:495818] xref: GARD:22009 {source="MONDO:GARD"} xref: MEDGEN:1811810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -527517,7 +527612,7 @@ subset: ordo_disorder {source="Orphanet:495930"} subset: orphanet_rare {source="Orphanet:495930"} subset: rare synonym: "monosomy 7 myelodysplasia and leukaemia syndrome" EXACT OMO:0003005 [] -synonym: "monosomy 7 myelodysplasia and leukemia syndrome" EXACT [MONDO:0031178] +synonym: "monosomy 7 myelodysplasia and leukemia syndrome" EXACT [MONDO:0031178, OMIMPS:252270] xref: GARD:20827 {source="MONDO:GARD"} xref: MEDGEN:1826116 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:252270 {source="MONDO:equivalentTo"} @@ -527540,7 +527635,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" EXACT [MONDO:0014964, OMIM:617193] synonym: "encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT" EXACT [] -synonym: "PEBAT" EXACT ABBREVIATION [OMIM:617193] +synonym: "PEBAT" EXACT ABBREVIATION [DOID:0070423, OMIM:617193] xref: DOID:0070423 {source="MONDO:equivalentTo"} xref: GARD:17911 {source="MONDO:GARD"} xref: MEDGEN:934638 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -527641,7 +527736,7 @@ id: MONDO:0044655 name: obsolete c12orf65-related combined oxidative phosphorylation defect subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:497623"} -synonym: "C12ORF65-related COXPD" EXACT [Orphanet:497623] +synonym: "C12ORF65-related COXPD" EXACT [] xref: Orphanet:497623 {source="MONDO:obsoleteEquivalent"} relationship: excluded_subClassOf MONDO:0000508 {source="MONDO:Redundant", source="Orphanet:497623", source="https://orcid.org/0000-0001-5208-3432"} ! syndromic intellectual disability property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -527698,7 +527793,7 @@ subset: rare synonym: "luteal-phase-dependent febrile episode" EXACT [Orphanet:498251] synonym: "luteal-phase-dependent periodic fever" EXACT [Orphanet:498251] synonym: "menstrual cycle-dependent febrile episode" EXACT [Orphanet:498251] -synonym: "periodic fever, menstrual cycle dependent" EXACT [OMIM:614674, OMIM:genemap2] +synonym: "periodic fever, menstrual cycle dependent" EXACT [] synonym: "periodic fever, menstrual cycle-dependent" EXACT [MONDO:0013850, OMIM:614674] xref: GARD:22017 {source="MONDO:GARD"} xref: MEDGEN:766332 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -527722,7 +527817,7 @@ subset: ordo_disorder {source="Orphanet:498359"} subset: orphanet_rare {source="Orphanet:498359"} subset: rare synonym: "aquagenic keratoderma" EXACT [Orphanet:498359] -synonym: "aquagenic palmoplantar keratoderma" EXACT [GARD:0012991] +synonym: "aquagenic palmoplantar keratoderma" EXACT [GARD:0012991, Orphanet:498359] synonym: "aquagenic syringeal acrokeratoderma" EXACT [Orphanet:498359] synonym: "aquagenic wrinkling of the hands" RELATED [GARD:0012991] synonym: "aquagenic wrinkling of the palms" EXACT [GARD:0012991, Orphanet:498359] @@ -527817,7 +527912,7 @@ subset: gard_rare {source="GARD:22038", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:499085"} subset: rare -synonym: "chronic recurrent isolated optic neuritis" EXACT [Orphanet:499085] +synonym: "chronic recurrent isolated optic neuritis" EXACT [] synonym: "CRION" EXACT ABBREVIATION [Orphanet:499085] xref: GARD:22038 {source="MONDO:GARD"} xref: MEDGEN:1798657 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -527835,7 +527930,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:499096"} subset: orphanet_rare {source="Orphanet:499096"} subset: rare -synonym: "ion" EXACT [Orphanet:499096] +synonym: "ION" EXACT ABBREVIATION [Orphanet:499096] +synonym: "ion" EXACT [] xref: GARD:22039 {source="MONDO:GARD"} xref: MEDGEN:43952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:499096 {source="MONDO:equivalentTo"} @@ -527867,7 +527963,7 @@ subset: gard_rare {source="GARD:22041", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:499107"} subset: orphanet_rare {source="Orphanet:499107"} subset: rare -synonym: "OPN" EXACT ABBREVIATION [Orphanet:499107] +synonym: "OPN" EXACT ABBREVIATION [] xref: GARD:22041 {source="MONDO:GARD"} xref: icd11.foundation:349248275 {source="MONDO:equivalentTo", source="Orphanet:499107", source="https://orcid.org/0000-0002-4142-7153"} xref: MEDGEN:881493 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -527886,8 +527982,8 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:500144"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "encephalopathy, progressive, early-onset, with brain atrophy and spasticity" RELATED [OMIM:617669] -synonym: "PEBAS" RELATED ABBREVIATION [OMIM:617669] +synonym: "encephalopathy, progressive, early-onset, with brain atrophy and spasticity" RELATED [] +synonym: "PEBAS" RELATED ABBREVIATION [] xref: GARD:17923 {source="MONDO:GARD"} xref: MEDGEN:1798652 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617669 {source="MONDO:equivalentTo", source="Orphanet:500144"} @@ -527942,8 +528038,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:500180"} subset: orphanet_rare {source="Orphanet:500180"} subset: rare -synonym: "CONDBA" RELATED ABBREVIATION [OMIM:617672] -synonym: "neurodegeneration, childhood-onset, with brain atrophy" RELATED [OMIM:617672] +synonym: "CONDBA" RELATED ABBREVIATION [] +synonym: "neurodegeneration, childhood-onset, with brain atrophy" RELATED [] synonym: "UBTF-related disorder" EXACT [https://orcid.org/0000-0001-5208-3432] xref: DOID:0070474 {source="MONDO:equivalentTo"} xref: GARD:13658 {source="MONDO:GARD"} @@ -527970,8 +528066,8 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:500188"} subset: rare synonym: "deafness, X-linked 7" EXACT [OMIM:301018] -synonym: "deafness, X-linked 7, X-linked recessive" NARROW [OMIM:301018, OMIM:genemap2] -synonym: "DFNX7" EXACT ABBREVIATION [OMIM:301018] +synonym: "deafness, X-linked 7, X-linked recessive" NARROW [] +synonym: "DFNX7" EXACT ABBREVIATION [DOID:0111738, OMIM:301018] xref: DOID:0111738 {source="MONDO:equivalentTo"} xref: GARD:17926 {source="MONDO:GARD"} xref: MEDGEN:1648389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -527999,8 +528095,8 @@ synonym: "epidermoid carcinoma of the oropharynx" EXACT [NCIT:C8181] synonym: "oropharyngeal epidermoid carcinoma" EXACT [NCIT:C8181] synonym: "oropharyngeal squamous cell carcinoma" EXACT [NCIT:C8181] synonym: "oropharyngeal throat squamous cell cancer" EXACT [NCIT:C8181] -synonym: "squamous cell carcinoma of oropharynx" EXACT [NCIT:C8181] -synonym: "squamous cell carcinoma of the oropharynx" RELATED [Orphanet:500478] +synonym: "squamous cell carcinoma of oropharynx" EXACT [icd11.foundation:839740136, NCIT:C8181] +synonym: "squamous cell carcinoma of the oropharynx" RELATED [] xref: GARD:17928 {source="MONDO:GARD"} xref: icd11.foundation:839740136 {source="Orphanet:500478", source="MONDO:equivalentTo", source="https://orcid.org/0000-0002-4142-7153"} xref: MEDGEN:76094 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -528030,7 +528126,7 @@ synonym: "epidermoid carcinoma of the paranasal sinus" EXACT [NCIT:C8193] synonym: "paranasal sinus epidermoid carcinoma" EXACT [NCIT:C8193] synonym: "paranasal sinus squamous cell carcinoma" EXACT [NCIT:C8193] synonym: "squamous cell carcinoma of paranasal sinus" EXACT [NCIT:C8193] -synonym: "squamous cell carcinoma of the nasal cavity and paranasal sinuses" RELATED [Orphanet:500464] +synonym: "squamous cell carcinoma of the nasal cavity and paranasal sinuses" RELATED [] synonym: "squamous cell carcinoma of the nasal cavity and sinuses" EXACT [Orphanet:500464] synonym: "squamous cell carcinoma of the paranasal sinus" EXACT [NCIT:C8193] xref: GARD:17927 {source="MONDO:GARD"} @@ -528069,8 +528165,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lip and oral cavity squamous cell cancer" EXACT [NCIT:C42690] synonym: "lip and oral cavity squamous cell carcinoma" EXACT [NCIT:C42690] -synonym: "lip/oral cavity squam. cell car." EXACT [NCIT:C42690] -synonym: "squamous cell carcinoma of oral cavity and lip" RELATED [Orphanet:502369] +synonym: "lip/oral cavity squam. cell car." EXACT [] +synonym: "squamous cell carcinoma of oral cavity and lip" RELATED [] xref: GARD:22046 {source="MONDO:GARD"} xref: MEDGEN:124714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C42690 {source="MONDO:equivalentTo"} @@ -528093,8 +528189,8 @@ subset: orphanet_rare {source="Orphanet:502423"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome" EXACT [Orphanet:502423] -synonym: "MMYAT" RELATED ABBREVIATION [OMIM:617675] -synonym: "myopathy, mitochondrial, and ataxia" RELATED [OMIM:617675] +synonym: "MMYAT" RELATED ABBREVIATION [] +synonym: "myopathy, mitochondrial, and ataxia" RELATED [] xref: GARD:17934 {source="MONDO:GARD"} xref: MEDGEN:1620960 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617675 {source="Orphanet:502423", source="MONDO:equivalentTo"} @@ -528166,8 +528262,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ACER3-related early childhood-onset progressive leukodystrophy" EXACT [Orphanet:502444] synonym: "leukodystrophy due to alkaline ceramidase 3 deficiency" EXACT [Orphanet:502444] -synonym: "leukodystrophy, progressive, early childhood-onset" RELATED [OMIM:617762] -synonym: "PLDECO" RELATED ABBREVIATION [OMIM:617762] +synonym: "leukodystrophy, progressive, early childhood-onset" RELATED [] +synonym: "PLDECO" RELATED ABBREVIATION [] xref: GARD:17936 {source="MONDO:GARD"} xref: MEDGEN:1622324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617762 {source="MONDO:equivalentTo", source="Orphanet:502444"} @@ -528226,8 +528322,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:504523"} subset: orphanet_rare {source="Orphanet:504523"} subset: rare -synonym: "IMD52" RELATED ABBREVIATION [OMIM:617514] -synonym: "immunodeficiency 52" RELATED [OMIM:617514] +synonym: "IMD52" RELATED ABBREVIATION [] +synonym: "immunodeficiency 52" RELATED [] synonym: "SCID due to LAT deficiency" EXACT [Orphanet:504523] xref: DOID:0111983 {source="MONDO:equivalentTo"} xref: GARD:17938 {source="MONDO:GARD"} @@ -528247,10 +528343,10 @@ subset: gard_rare {source="GARD:22050", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:505208"} subset: orphanet_rare {source="Orphanet:505208"} subset: rare -synonym: "3-methylglutaconic aciduria type VIII" RELATED [DOID:0070000] +synonym: "3-methylglutaconic aciduria type VIII" RELATED [] synonym: "3-methylglutaconic aciduria type VIII, MGCA8" EXACT [DOID:0070000] -synonym: "3-Methylglutaconic aciduria, type 8" RELATED [OMIM:617248] -synonym: "3-methylglutaconic aciduria, type VIII" EXACT [MONDO:0014988, OMIM:617248] +synonym: "3-Methylglutaconic aciduria, type 8" RELATED [] +synonym: "3-methylglutaconic aciduria, type VIII" EXACT [MONDO:0014988] synonym: "3-methylglutaconic aciduria, type VIII; MGCA8" EXACT [] synonym: "MGA8" EXACT ABBREVIATION [Orphanet:505208] synonym: "MGCA8" EXACT ABBREVIATION [OMIM:617248] @@ -528274,13 +528370,13 @@ subset: ordo_disorder {source="Orphanet:505216"} subset: orphanet_rare {source="Orphanet:505216"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3-Methylglutaconic aciduria, type 9" RELATED [OMIM:617698] -synonym: "3-METHYLGLUTACONIC aciduria, type IX" RELATED [OMIM:617698] +synonym: "3-Methylglutaconic aciduria, type 9" RELATED [] +synonym: "3-METHYLGLUTACONIC aciduria, type IX" RELATED [] synonym: "3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome" EXACT [Orphanet:505216] -synonym: "3-methylglutaconic acuduria type IX" RELATED [DOID:0070002] +synonym: "3-methylglutaconic acuduria type IX" RELATED [] synonym: "3-methylglutaconic acuduria type IX, MGCA9" EXACT [DOID:0070002] synonym: "MGA9" EXACT ABBREVIATION [Orphanet:505216] -synonym: "MGCA9" RELATED ABBREVIATION [OMIM:617698] +synonym: "MGCA9" RELATED ABBREVIATION [] xref: DOID:0070002 {source="MONDO:equivalentTo"} xref: GARD:17940 {source="MONDO:GARD"} xref: MEDGEN:1622927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -528304,8 +528400,8 @@ subset: rare synonym: "CID due to GINS1 deficiency" EXACT [Orphanet:505227] synonym: "combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia" EXACT [Orphanet:505227] synonym: "combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia" EXACT [Orphanet:505227] -synonym: "IMD55" RELATED ABBREVIATION [OMIM:617827] -synonym: "immunodeficiency 55" RELATED [OMIM:617827] +synonym: "IMD55" RELATED ABBREVIATION [] +synonym: "immunodeficiency 55" RELATED [] xref: DOID:0111993 {source="MONDO:equivalentTo"} xref: GARD:17941 {source="MONDO:GARD"} xref: MEDGEN:1799555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -528326,8 +528422,8 @@ subset: ordo_disorder {source="Orphanet:505242"} subset: orphanet_rare {source="Orphanet:505242"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "BILAPES" RELATED ABBREVIATION [OMIM:617595] -synonym: "Birk-Landau-Perez syndrome" RELATED [OMIM:617595] +synonym: "BILAPES" RELATED ABBREVIATION [] +synonym: "Birk-Landau-Perez syndrome" RELATED [] synonym: "Cerebrorenal syndrome, Perez type" EXACT [Orphanet:505242] xref: GARD:17943 {source="MONDO:GARD"} xref: MEDGEN:1621949 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -528352,7 +528448,7 @@ subset: orphanet_rare {source="Orphanet:506112"} subset: rare synonym: "MiNEN of pancreas" EXACT [Orphanet:506112] synonym: "mixed exocrine-endocrine carcinoma of the pancreas" EXACT [NCIT:C45843] -synonym: "mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas" RELATED [Orphanet:506112] +synonym: "mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas" RELATED [] synonym: "pancreatic carcinoma with mixed differentiation" EXACT [NCIT:C45843] synonym: "pancreatic MiNEN" EXACT [Orphanet:506112] synonym: "pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm" EXACT [Orphanet:506112] @@ -528374,7 +528470,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:506353"} subset: orphanet_rare {source="Orphanet:506353"} subset: rare -synonym: "autosomal recessive complex SPG due to Kennedy pathway dysfunction" EXACT [Orphanet:506353] +synonym: "autosomal recessive complex SPG due to Kennedy pathway dysfunction" EXACT [DOID:0112349, Orphanet:506353] xref: DOID:0112349 {source="MONDO:equivalentTo"} xref: GARD:17946 {source="MONDO:GARD"} xref: MEDGEN:1799999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -528397,9 +528493,9 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:506358"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Gabriele-De Vries syndrome" RELATED [OMIM:617557] -synonym: "Gabriele-de Vries syndrome" RELATED [OMIM:617557] -synonym: "GADEVS" RELATED ABBREVIATION [OMIM:617557] +synonym: "Gabriele-De Vries syndrome" RELATED [] +synonym: "Gabriele-de Vries syndrome" RELATED [] +synonym: "GADEVS" RELATED ABBREVIATION [] synonym: "YY1 haploinsufficiency syndrome" EXACT [Orphanet:506358] xref: GARD:17947 {source="MONDO:GARD"} xref: MEDGEN:1375401 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -528451,7 +528547,7 @@ synonym: "salivary gland squamous cell carcinoma" EXACT [NCIT:C7991] synonym: "SCC of salivary gland" EXACT [NCIT:C7991] synonym: "SCC of the salivary gland" EXACT [NCIT:C7991] synonym: "squamous cell carcinoma of salivary gland" EXACT [NCIT:C7991] -synonym: "squamous cell carcinoma of salivary glands" RELATED [Orphanet:500481] +synonym: "squamous cell carcinoma of salivary glands" RELATED [] synonym: "squamous cell carcinoma of the salivary gland" EXACT [NCIT:C7991] xref: EFO:1001967 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:17929 {source="MONDO:GARD"} @@ -528558,8 +528654,8 @@ def: "OBSOLETE. A bacterial infection that is transmitted from animals to people comment: Reason of obsoletion: out of scope - MONDO:excludeEvent. Term to consider: - synonym: "Bacteria caused zoonoses" EXACT [MONDO:patterns/specific_infectious_disease_by_agent] synonym: "Bacteria zoonoses" EXACT [] -synonym: "zoonotic bacterial disease" EXACT [NCIT:C35373] -synonym: "zoonotic bacterial infection" EXACT [NCIT:C35373] +synonym: "zoonotic bacterial disease" EXACT [] +synonym: "zoonotic bacterial infection" EXACT [] xref: ICD10CM:A20-A28 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: NCIT:C35373 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeEvent"} @@ -528636,7 +528732,7 @@ id: MONDO:0044753 name: lumbar spinal stenosis def: "A spinal stenosis that involves the lumbar region of vertebral column." [MONDO:patterns/location] synonym: "lumbar region of vertebral column spinal stenosis" EXACT [MONDO:patterns/location] -synonym: "lumbar spinal stenosis" EXACT [] +synonym: "lumbar spinal stenosis" EXACT [NCIT:C177445] synonym: "spinal stenosis of lumbar region" EXACT [] synonym: "spinal stenosis of lumbar region of vertebral column" EXACT [] xref: HP:0004610 {source="MONDO:otherHierarchy"} @@ -528655,7 +528751,7 @@ name: diarrheal disease secondary to increased bowel motility def: "A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease." [https://www.ncbi.nlm.nih.gov/books/NBK414/] synonym: "diarrhea from increased bowel motility" EXACT [] synonym: "diarrhoea from increased bowel motility" EXACT OMO:0003005 [] -synonym: "motility-related diarrhea" BROAD [DOID:0050131] +synonym: "motility-related diarrhea" BROAD [] synonym: "motility-related diarrhoea" BROAD OMO:0003005 [] xref: DOID:0050131 {source="MONDO:equivalentTo"} is_a: MONDO:0000251 ! diarrheal disease secondary to altered bowel motility @@ -528709,7 +528805,7 @@ synonym: "nephrotic syndrome, steroid-resistant, autosomal recessive" NARROW [GT synonym: "nephrotic syndrome-steroid-resistant" EXACT [NCIT:C122798] synonym: "NPHS2" RELATED ABBREVIATION [GTR:AN0200342] synonym: "SRNS - steroid-resistant nephrotic syndrome" RELATED [] -synonym: "steroid-resistant nephrotic syndrome" EXACT [GTR:AN0255485] +synonym: "steroid-resistant nephrotic syndrome" EXACT [GTR:AN0255485, NCIT:C122798] synonym: "steroid-unresponsive nephrotic syndrome" RELATED [] xref: GTR:AN0096391 xref: GTR:AN0096395 @@ -528777,8 +528873,8 @@ def: "Premature ovarian failure-10 (POF10) represents a syndrome characterized b subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "menopause, natural, Age At, quantitative trait locus 3" RELATED [OMIM:612885] -synonym: "Pof10" RELATED [OMIM:612885] +synonym: "menopause, natural, Age At, quantitative trait locus 3" RELATED [] +synonym: "Pof10" RELATED [] synonym: "premature ovarian failure 10" EXACT [OMIM:612885] xref: DOID:0080867 {source="MONDO:equivalentTo"} xref: MEDGEN:898849 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -528793,7 +528889,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "GDF9-related primary ovarian insufficiency" RELATED [GTR:AN1172965] -synonym: "POF14" RELATED ABBREVIATION [OMIM:618014] +synonym: "POF14" RELATED ABBREVIATION [] synonym: "premature ovarian failure 14" EXACT [OMIM:618014] xref: DOID:0080871 {source="MONDO:equivalentTo"} xref: GTR:AN1172965 @@ -528812,12 +528908,12 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:86893"} subset: orphanet_rare {source="Orphanet:86893"} subset: rare -synonym: "Hodgkin lymphoma nodular LP, NOS" EXACT [NCIT:C7258] -synonym: "Hodgkin lymphoma nodular lymphocyte predominant type, NOS" EXACT [NCIT:C7258] +synonym: "Hodgkin lymphoma nodular LP, NOS" EXACT [] +synonym: "Hodgkin lymphoma nodular lymphocyte predominant type, NOS" EXACT [] synonym: "NLPHL" EXACT ABBREVIATION [NCIT:C7258, Orphanet:86893] -synonym: "nodular lymphocyte predominant Hodgkin lymphoma" EXACT [NCIT:C7258] +synonym: "nodular lymphocyte predominant Hodgkin lymphoma" EXACT [icd11.foundation:331115338, NCIT:C7258, Orphanet:86893] synonym: "nodular lymphocyte predominant Hodgkin's lymphoma" EXACT [NCIT:C7258] -synonym: "nodular lymphocyte-predominant Hodgkin lymphoma" EXACT [NCIT:C7258] +synonym: "nodular lymphocyte-predominant Hodgkin lymphoma" EXACT [] xref: GARD:19079 {source="MONDO:GARD"} xref: ICD10CM:C81.0 {source="Orphanet:86893", source="Orphanet:86893/ntbt"} xref: icd11.foundation:331115338 {source="Orphanet:86893", source="MONDO:equivalentTo"} @@ -528911,7 +529007,7 @@ is_a: MONDO:0006427 {source="NCIT:C37257"} ! spindle cell melanoma id: MONDO:0044786 name: solid pseudopapillary neoplasm of the pancreas def: "A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases." [NCIT:C37212] -synonym: "Frantz tumor" EXACT [NCIT:C37212] +synonym: "Frantz tumor" EXACT [] synonym: "Frantz tumour" EXACT OMO:0003005 [] synonym: "solid pseudopapillary neoplasm of the pancreas" EXACT [NCIT:C37212] synonym: "solid pseudopapillary tumor of the pancreas" EXACT [NCIT:C37212] @@ -528945,10 +529041,10 @@ name: perihilar intrahepatic cholangiocarcinoma def: "An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts." [NCIT:C96804] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "perihilar bile duct carcinoma" EXACT [NCIT:C96804] +synonym: "perihilar bile duct carcinoma" EXACT [] synonym: "perihilar cholangiocarcinoma" RELATED [ONCOTREE:PHCH] -synonym: "perihilar ICC" EXACT [NCIT:C96804] -synonym: "perihilar intrahepatic cholangiocarcinoma" EXACT [NCIT:C96804] +synonym: "perihilar ICC" EXACT [] +synonym: "perihilar intrahepatic cholangiocarcinoma" EXACT [] xref: NCIT:C96804 {source="MONDO:equivalentTo"} xref: ONCOTREE:PHCH {source="MONDO:equivalentTo"} is_a: MONDO:0003210 {source="NCIT:C96804"} ! intrahepatic cholangiocarcinoma @@ -528957,7 +529053,7 @@ is_a: MONDO:0003210 {source="NCIT:C96804"} ! intrahepatic cholangiocarcinoma id: MONDO:0044789 name: digital papillary eccrine carcinoma def: "An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs." [NCIT:C27534] -synonym: "aggressive digital papillary adenocarcinoma" EXACT [MONDO:0003530] +synonym: "aggressive digital papillary adenocarcinoma" EXACT [DOID:5590, MONDO:0003530, NCIT:C27534] synonym: "digit papillary eccrine carcinoma" EXACT [MONDO:design_pattern, MONDO:patterns/location] synonym: "digital papillary carcinoma" EXACT [NCIT:C27534] synonym: "digital papillary carcinoma of skin" EXACT [https://orcid.org/0000-0001-5208-3432] @@ -528992,14 +529088,14 @@ subset: ordo_disorder {source="Orphanet:529852"} subset: orphanet_rare {source="Orphanet:529852"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoma of liver and intrahepatic biliary tract" BROAD [NCIT:C3828] +synonym: "carcinoma of liver and intrahepatic biliary tract" BROAD [] synonym: "carcinoma of the liver and intrahepatic biliary tract" EXACT [NCIT:C3828] synonym: "Cholangiohepatoma" EXACT [NCIT:C3828] -synonym: "combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)" EXACT [NCIT:C3828] +synonym: "combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)" EXACT [] synonym: "combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)" EXACT [NCIT:C3828] -synonym: "combined hepatocellular carcinoma and cholangiocarcinoma" EXACT [NCIT:C3828] -synonym: "Hepatocholangiocarcinoma" EXACT [NCIT:C3828] -synonym: "liver and intrahepatic biliary tract carcinoma" BROAD [NCIT:C3828] +synonym: "combined hepatocellular carcinoma and cholangiocarcinoma" EXACT [icd11.foundation:1097637010, NCIT:C3828, Orphanet:529852] +synonym: "Hepatocholangiocarcinoma" EXACT [icd11.foundation:1097637010, NCIT:C3828, Orphanet:529852] +synonym: "liver and intrahepatic biliary tract carcinoma" BROAD [] synonym: "Mixed hepatocellular cholangiocarcinoma" EXACT [NCIT:C3828] xref: GARD:22200 {source="MONDO:GARD"} xref: icd11.foundation:1097637010 {source="MONDO:equivalentTo", source="Orphanet:529852", source="https://orcid.org/0000-0001-5208-3432"} @@ -529024,7 +529120,7 @@ subset: orphanet_rare {source="Orphanet:626"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "bathing trunk nevus" EXACT [GARD:0002469, NCIT:C4234] -synonym: "CMNS" RELATED ABBREVIATION [OMIM:137550] +synonym: "CMNS" RELATED ABBREVIATION [] synonym: "congenital giant pigmented nevus" RELATED [GARD:0002469] synonym: "congenital hairy nevus" RELATED [GARD:0002469] synonym: "congenital melanocytic nevi" EXACT [NCIT:C3944] @@ -529035,30 +529131,30 @@ synonym: "congenital nevus" RELATED [ONCOTREE:SKCN] synonym: "congenital nevus of skin" EXACT [NCIT:C3944] synonym: "congenital nevus of the skin" EXACT [NCIT:C3944] synonym: "congenital pigmented melanocytic Nevus" EXACT [NCIT:C3944] -synonym: "congenital pigmented nevus" EXACT [Orphanet:626] +synonym: "congenital pigmented nevus" EXACT [DOID:0111359, Orphanet:626] synonym: "congenital pigmented nevus of skin" EXACT [NCIT:C3944] synonym: "congenital pigmented nevus of the skin" EXACT [NCIT:C3944] synonym: "congenital pigmented skin nevus" EXACT [NCIT:C3944] synonym: "congenital skin nevus" EXACT [NCIT:C3944] -synonym: "Giant Congenital Melanocytic Nevus" EXACT [NORD:1184] -synonym: "giant congenital melanocytic nevus" RELATED [GARD:0002469, Orphanet:626] +synonym: "Giant Congenital Melanocytic Nevus" EXACT [DOID:0111359, NCIT:C4234, NORD:1184, Orphanet:626] +synonym: "giant congenital melanocytic nevus" RELATED [GARD:0002469] synonym: "giant congenital nevus" EXACT [NCIT:C4234] -synonym: "giant congenital pigmented Nevus" RELATED [OMIM:137550] +synonym: "giant congenital pigmented Nevus" RELATED [] synonym: "giant hairy nevus" RELATED [GARD:0002469] -synonym: "giant pigmented hairy nevus" EXACT [GARD:0002469, OMIM:137550, Orphanet:626] +synonym: "giant pigmented hairy nevus" EXACT [DOID:0111359, GARD:0002469, OMIM:137550, Orphanet:626] synonym: "giant pigmented nevus" RELATED [GARD:0002469] synonym: "giant pigmented nevus of skin" EXACT [NCIT:C4234] synonym: "giant pigmented nevus of the skin" EXACT [NCIT:C4234] -synonym: "GMN" EXACT ABBREVIATION [Orphanet:626] +synonym: "GMN" EXACT ABBREVIATION [DOID:0111359, Orphanet:626] synonym: "GPHN" RELATED ABBREVIATION [GARD:0002469] -synonym: "large congenital melanocytic nevus" EXACT [GARD:0002469] -synonym: "LCMN" EXACT ABBREVIATION [Orphanet:626] -synonym: "melanocytic nevus syndrome, congenital" RELATED [OMIM:137550] -synonym: "melanocytic nevus syndrome, congenital, somatic" EXACT [OMIM:137550, OMIM:genemap2] -synonym: "nevus spilus" RELATED [OMIM:137550] -synonym: "pigmented moles" RELATED [OMIM:137550] -synonym: "spitz nevus" RELATED [OMIM:137550] -synonym: "spitz nevus or nevus spilus, somatic" EXACT [OMIM:137550, OMIM:genemap2] +synonym: "large congenital melanocytic nevus" EXACT [DOID:0111359, GARD:0002469, Orphanet:626] +synonym: "LCMN" EXACT ABBREVIATION [DOID:0111359, Orphanet:626] +synonym: "melanocytic nevus syndrome, congenital" RELATED [] +synonym: "melanocytic nevus syndrome, congenital, somatic" EXACT [] +synonym: "nevus spilus" RELATED [] +synonym: "pigmented moles" RELATED [] +synonym: "spitz nevus" RELATED [] +synonym: "spitz nevus or nevus spilus, somatic" EXACT [] xref: DOID:0111359 {source="MONDO:equivalentTo"} xref: GARD:2469 {source="MONDO:GARD"} xref: ICD10CM:Q82.5 {source="Orphanet:626", source="Orphanet:626/attributed", source="Orphanet:626/ntbt"} @@ -529108,11 +529204,11 @@ name: benign melanocytic skin nevus def: "A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus." [NCIT:C7571] comment: Editor note: TODO logical def subset: otar {source="MONDO:OTAR"} -synonym: "benign melanocytic nevus" EXACT [NCIT:C7571] +synonym: "benign melanocytic nevus" EXACT [] synonym: "benign melanocytic nevus of skin" EXACT [NCIT:C7571] synonym: "benign melanocytic nevus of the skin" EXACT [NCIT:C7571] -synonym: "benign melanocytic skin nevus" EXACT [NCIT:C7571] -synonym: "benign mole" EXACT [NCIT:C7571] +synonym: "benign melanocytic skin nevus" EXACT [] +synonym: "benign mole" EXACT [] synonym: "benign nevus of skin" EXACT [NCIT:C7571] synonym: "benign nevus of the skin" EXACT [NCIT:C7571] synonym: "benign skin nevus" EXACT [NCIT:C7571] @@ -529181,7 +529277,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial dystonia" EXACT [NCIT:C35527] synonym: "hereditary dystonic disorder" EXACT [MONDO:patterns/hereditary] -synonym: "rare genetic dystonia" EXACT [MONDO:0018331] +synonym: "rare genetic dystonia" EXACT [MONDO:0018331, Orphanet:391799] synonym: "rare genetic dystonic disorder" EXACT [Orphanet:391799] xref: GARD:21630 {source="MONDO:GARD"} xref: MEDGEN:1842468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -529212,7 +529308,7 @@ def: "Torsion dystonia for which no underlying cause has been identified." [NCIT synonym: "dystonia deformans progressiva" RELATED [] synonym: "dystonia musculorum deformans" RELATED [] synonym: "Idiopathic torsion dystonia" EXACT [NCIT:C34564] -synonym: "idiopathic torsion dystonia" EXACT [] +synonym: "idiopathic torsion dystonia" EXACT [NCIT:C34564] synonym: "primary torsion dystonia" EXACT [] synonym: "Schwalbe disease" RELATED [] synonym: "Ziehen-oppenheim disease" RELATED [] @@ -529289,7 +529385,7 @@ synonym: "focal hand dystonia" RELATED [MESH:C566973, Wikipedia:Dystonia#General synonym: "focal task-specific dystonia" RELATED [MESH:C566973] synonym: "FTSD" EXACT ABBREVIATION [MESH:C566973, MONDO:Lexical, OMIM:611284] synonym: "musician's cramp" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] -synonym: "musician's dystonia" RELATED [MESH:C566973, OMIM:611284] +synonym: "musician's dystonia" RELATED [MESH:C566973] synonym: "occupational cramp" RELATED [MESH:C566973] synonym: "occupational dystonia" RELATED [MESH:C566973] synonym: "task-specific dystonia" RELATED [MESH:C566973] @@ -529322,7 +529418,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "childhood MDS" EXACT [NCIT:C68744] synonym: "childhood myelodysplastic syndrome" EXACT [NCIT:C68744] -synonym: "myelodysplastic syndrome" BROAD [NCIT:C68744] +synonym: "myelodysplastic syndrome" BROAD [] xref: MEDGEN:389541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2100003 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: NANDO:2200019 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -529338,7 +529434,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "RCC" EXACT ABBREVIATION [NCIT:C82596] -synonym: "refractory cytopenia of childhood" EXACT [NCIT:C82596] +synonym: "refractory cytopenia of childhood" EXACT [icd11.foundation:699075426, NCIT:C82596] xref: icd11.foundation:699075426 {source="MONDO:equivalentTo"} xref: MEDGEN:417430 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C82596 {source="MONDO:equivalentTo"} @@ -529379,7 +529475,7 @@ subset: ordo_disorder {source="Orphanet:623626"} subset: orphanet_rare {source="Orphanet:623626"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "paraneoplastic cerebellar degeneration" EXACT [NCIT:C4685] +synonym: "paraneoplastic cerebellar degeneration" EXACT [icd11.foundation:1087616692, NCIT:C4685, Orphanet:623626] xref: GARD:22493 {source="MONDO:GARD"} xref: icd11.foundation:1087616692 {source="MONDO:equivalentTo"} xref: MEDGEN:98273 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -529401,7 +529497,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "Adult germ cell tumor" EXACT [NCIT:C114777] synonym: "Adult germ cell tumour" EXACT OMO:0003005 [] -synonym: "germ cell tumor" BROAD [NCIT:C114777] +synonym: "germ cell tumor" BROAD [] synonym: "germ cell tumor of adults" EXACT [MONDO:design_pattern, MONDO:patterns/adult] synonym: "germ cell tumour" BROAD OMO:0003005 [] synonym: "germ cell tumour of adults" EXACT OMO:0003005 [] @@ -529457,19 +529553,19 @@ synonym: "haematopoietic neoplasm" EXACT OMO:0003005 [] synonym: "haematopoietic neoplasms including lymphomas" EXACT OMO:0003005 [] synonym: "haematopoietic tumour" EXACT OMO:0003005 [] synonym: "hematologic cancer" EXACT [NCIT:C27134] -synonym: "hematologic malignancy" EXACT [NCIT:C27134] +synonym: "hematologic malignancy" EXACT [] synonym: "hematologic neoplasm" EXACT [NCIT:C27134] synonym: "hematological neoplasm" EXACT [NCIT:C27134] -synonym: "hematological tumor" EXACT [NCIT:C27134] +synonym: "hematological tumor" EXACT [] synonym: "hematopoietic and lymphoid cell neoplasm" EXACT [NCIT:C27134] -synonym: "hematopoietic and lymphoid neoplasms" EXACT [NCIT:C27134] -synonym: "hematopoietic cancer" EXACT [NCIT:C27134] -synonym: "hematopoietic cell tumor" EXACT [NCIT:C27134] -synonym: "hematopoietic malignancy, NOS" EXACT [NCIT:C27134] +synonym: "hematopoietic and lymphoid neoplasms" EXACT [] +synonym: "hematopoietic cancer" EXACT [] +synonym: "hematopoietic cell tumor" EXACT [] +synonym: "hematopoietic malignancy, NOS" EXACT [] synonym: "hematopoietic neoplasm" EXACT [NCIT:C27134] synonym: "hematopoietic neoplasms including lymphomas" EXACT [NCIT:C27134] -synonym: "hematopoietic tumor" EXACT [NCIT:C27134] -synonym: "hematopoietic, Including myeloma" EXACT [NCIT:C27134] +synonym: "hematopoietic tumor" EXACT [] +synonym: "hematopoietic, Including myeloma" EXACT [] synonym: "HEMOLYMPHORETICULAR tumor, malignant" EXACT [NCIT:C27134] synonym: "malignant haematopoietic neoplasm" EXACT OMO:0003005 [] synonym: "malignant hematologic neoplasm" EXACT [NCIT:C27134] @@ -529526,7 +529622,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Central nervous system non-Hodgkin lymphoma" EXACT [NCIT:C114779] -synonym: "central nervous system non-Hodgkin lymphoma" EXACT [MONDO:patterns/location] +synonym: "central nervous system non-Hodgkin lymphoma" EXACT [MONDO:patterns/location, NCIT:C114779] synonym: "non-Hodgkin lymphoma of central nervous system" EXACT [MONDO:design_pattern] synonym: "Primary Central nervous system non-Hodgkin lymphoma" EXACT [NCIT:C114779] xref: MEDGEN:745669 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -529696,7 +529792,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Precur. T-lymphoblastic lymphoma" EXACT [NCIT:C6919] +synonym: "Precur. T-lymphoblastic lymphoma" EXACT [] synonym: "precursor T Lymphoblastic lymphoma" EXACT [NCIT:C6919] synonym: "precursor T-cell Lymphoblastic lymphoma" EXACT [NCIT:C6919] synonym: "precursor T-Lymphoblastic lymphoma" EXACT [NCIT:C6919] @@ -529760,13 +529856,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "acute myeloid leukaemia with cytoplasmic nucleophosmin" EXACT OMO:0003005 [] synonym: "acute myeloid leukemia with cytoplasmic nucleophosmin" EXACT [NCIT:C82431] -synonym: "acute myeloid leukemia with mutated NPM1" EXACT [NCIT:C82431] +synonym: "acute myeloid leukemia with mutated NPM1" EXACT [DOID:0081089, NCIT:C82431] synonym: "acute myeloid leukemia, NPM1 gene mutation" EXACT [MONDO:0100411] synonym: "AML with mutated NPM1" EXACT [NCIT:C82431] -synonym: "AML, Mutation of the Nucleophosmin Gene" EXACT [NCIT:C82429] -synonym: "AML, NPM1 gene mutation" EXACT [NCIT:C82429] -synonym: "AML, NPM1 Mutation" EXACT [NCIT:C82429] -synonym: "AML, Nucleophosmin Gene Mutation" EXACT [NCIT:C82429] +synonym: "AML, Mutation of the Nucleophosmin Gene" EXACT [] +synonym: "AML, NPM1 gene mutation" EXACT [] +synonym: "AML, NPM1 Mutation" EXACT [] +synonym: "AML, Nucleophosmin Gene Mutation" EXACT [] synonym: "NPMc+ AML" EXACT [NCIT:C82431] xref: DOID:0081089 {source="MONDO:equivalentTo"} xref: MEDGEN:414842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -529796,7 +529892,7 @@ synonym: "carcinoma of mouth" EXACT [NCIT:C8990] synonym: "carcinoma of oral cavity" EXACT [MONDO:patterns/carcinoma, NCIT:C8990] synonym: "carcinoma of the oral cavity" EXACT [NCIT:C8990] synonym: "mouth carcinoma" EXACT [NCIT:C8990] -synonym: "oral cavity cancer" BROAD [NCIT:C8990] +synonym: "oral cavity cancer" BROAD [] synonym: "oral cavity carcinoma" EXACT [NCIT:C8990] xref: MEDGEN:57468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C8990 {source="MONDO:equivalentTo"} @@ -529811,13 +529907,13 @@ id: MONDO:0044926 name: oropharyngeal carcinoma def: "Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx." [NCIT:C9105] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of oropharynx" BROAD [NCIT:C9105] -synonym: "cancer of the oropharynx" BROAD [NCIT:C9105] +synonym: "cancer of oropharynx" BROAD [] +synonym: "cancer of the oropharynx" BROAD [] synonym: "carcinoma of oropharynx" EXACT [MONDO:patterns/carcinoma, NCIT:C9105] synonym: "carcinoma of the oropharynx" EXACT [NCIT:C9105] -synonym: "oropharyngeal cancer" BROAD [NCIT:C9105] +synonym: "oropharyngeal cancer" BROAD [] synonym: "oropharyngeal carcinoma" EXACT [NCIT:C9105] -synonym: "oropharyngeal throat cancer" BROAD [NCIT:C9105] +synonym: "oropharyngeal throat cancer" BROAD [] synonym: "oropharynx carcinoma" EXACT [NCIT:C9105] xref: MEDGEN:379086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C9105 {source="MONDO:equivalentTo"} @@ -529832,11 +529928,11 @@ id: MONDO:0044937 name: rectal carcinoma def: "A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas." [NCIT:C9382] subset: otar {source="MONDO:OTAR"} -synonym: "cancer of rectum" BROAD [NCIT:C9382] -synonym: "cancer of the rectum" BROAD [NCIT:C9382] +synonym: "cancer of rectum" BROAD [] +synonym: "cancer of the rectum" BROAD [] synonym: "carcinoma of rectum" EXACT [MONDO:patterns/carcinoma, NCIT:C9382] synonym: "carcinoma of the rectum" EXACT [NCIT:C9382] -synonym: "rectal cancer" BROAD [NCIT:C9382] +synonym: "rectal cancer" BROAD [] synonym: "rectal carcinoma" EXACT [NCIT:C9382] synonym: "rectum carcinoma" EXACT [] xref: MEDGEN:40100 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -530059,12 +530155,12 @@ synonym: "benign adipose tissue neoplasm" EXACT [NCIT:C4502] synonym: "benign adipose tissue tumor" EXACT [NCIT:C4502] synonym: "benign adipose tissue tumour" EXACT OMO:0003005 [] synonym: "benign connective and soft tissue neoplasm of adipose tissue" EXACT [MONDO:design_pattern] -synonym: "benign lipomatous neoplasm" EXACT [NCIT:C4502] +synonym: "benign lipomatous neoplasm" EXACT [icd11.foundation:226447034, NCIT:C4502] synonym: "benign lipomatous tumor" EXACT [NCIT:C4502] synonym: "benign lipomatous tumour" EXACT OMO:0003005 [] synonym: "benign neoplasm of adipose tissue" EXACT [NCIT:C4502] synonym: "benign neoplasm of the adipose tissue" EXACT [NCIT:C4502] -synonym: "benign tumor of adipose tissue" RELATED [NCIT:C4502] +synonym: "benign tumor of adipose tissue" RELATED [] synonym: "benign tumor of the adipose tissue" EXACT [NCIT:C4502] synonym: "benign tumour of adipose tissue" RELATED OMO:0003005 [] synonym: "benign tumour of the adipose tissue" EXACT OMO:0003005 [] @@ -530583,7 +530679,7 @@ name: acquired adrenogenital syndrome def: "An instance of adrenogenital syndrome that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "acquired adrenogenital syndrome" EXACT [MONDO:patterns/acquired] +synonym: "acquired adrenogenital syndrome" EXACT [icd11.foundation:1228689964, MONDO:patterns/acquired] xref: icd11.foundation:1228689964 {source="MONDO:equivalentTo"} xref: MEDGEN:536747 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: SCTID:190512008 {source="MONDO:equivalentTo"} @@ -530805,7 +530901,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "nervous system sarcoidosis" EXACT [MONDO:patterns/location] -synonym: "neurosarcoidosis" EXACT [] +synonym: "neurosarcoidosis" EXACT [icd11.foundation:1479285656] synonym: "sarcoidosis of nervous system" EXACT [] xref: icd11.foundation:1479285656 {source="MONDO:equivalentTo"} xref: MEDGEN:97948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -530872,8 +530968,8 @@ intersection_of: disease_has_location UBERON:0000389 ! lens cortex id: MONDO:0045052 name: benign osteogenic neoplasm def: "A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma." [NCIT:C6602] -synonym: "benign osseous neoplasm" RELATED [NCIT:C6602] -synonym: "benign osseous tumor" RELATED [NCIT:C6602] +synonym: "benign osseous neoplasm" RELATED [] +synonym: "benign osseous tumor" RELATED [] synonym: "benign osseous tumour" RELATED OMO:0003005 [] synonym: "benign osteogenic neoplasm" EXACT [NCIT:C6602] synonym: "benign osteogenic tumor" EXACT [NCIT:C6602] @@ -530891,8 +530987,8 @@ intersection_of: has_characteristic PATO:0002096 ! neoplastic, non-malignant id: MONDO:0045053 name: osteogenic neoplasm def: "A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma." [NCIT:C6603] -synonym: "osseous neoplasm" RELATED [NCIT:C6603] -synonym: "osseous tumor" RELATED [NCIT:C6603] +synonym: "osseous neoplasm" RELATED [] +synonym: "osseous tumor" RELATED [] synonym: "osseous tumour" RELATED OMO:0003005 [] synonym: "osteogenic neoplasm" EXACT [NCIT:C6603] synonym: "osteogenic tumor" EXACT [NCIT:C6603] @@ -530924,7 +531020,7 @@ is_a: MONDO:0045024 {source="MONDO:Redundant"} ! cancer or benign tumor id: MONDO:0045055 name: glycogen-rich carcinoma def: "A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma." [NCIT:C4153] -synonym: "Glycogen-rich carcinoma" EXACT [NCIT:C4153] +synonym: "Glycogen-rich carcinoma" EXACT [DOID:0081028, NCIT:C4153] xref: DOID:0081028 {source="MONDO:equivalentTo"} xref: MEDGEN:83127 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C4153 {source="MONDO:equivalentTo"} @@ -530972,28 +531068,28 @@ name: ACTH-producing pituitary gland neoplasm def: "An adenoma or carcinoma of the pituitary gland that produces corticotropin." [NCIT:C7909] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ACTH producing pituitary gland neoplasm" EXACT [NCIT:C7909] -synonym: "ACTH-producing pituitary gland neoplasm" EXACT [NCIT:C7909] -synonym: "ACTH-producing pituitary neoplasm" EXACT [NCIT:C7909] -synonym: "ACTH-producing pituitary tumor" EXACT [NCIT:C7909] +synonym: "ACTH producing pituitary gland neoplasm" EXACT [] +synonym: "ACTH-producing pituitary gland neoplasm" EXACT [] +synonym: "ACTH-producing pituitary neoplasm" EXACT [] +synonym: "ACTH-producing pituitary tumor" EXACT [] synonym: "ACTH-producing pituitary tumour" EXACT OMO:0003005 [] -synonym: "ACTH-secreting tumor of pituitary" EXACT [NCIT:C7909] -synonym: "ACTH-secreting tumor of the pituitary" EXACT [NCIT:C7909] +synonym: "ACTH-secreting tumor of pituitary" EXACT [] +synonym: "ACTH-secreting tumor of the pituitary" EXACT [] synonym: "ACTH-secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "ACTH-secreting tumour of the pituitary" EXACT OMO:0003005 [] -synonym: "adrenocorticotropin producing pituitary gland tumor" EXACT [NCIT:C7909] +synonym: "adrenocorticotropin producing pituitary gland tumor" EXACT [] synonym: "adrenocorticotropin producing pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "adrenocorticotropin secreting neoplasm of pituitary" EXACT [NCIT:C7909] -synonym: "adrenocorticotropin secreting neoplasm of the pituitary" EXACT [NCIT:C7909] -synonym: "adrenocorticotropin secreting pituitary gland tumor" EXACT [NCIT:C7909] +synonym: "adrenocorticotropin secreting neoplasm of pituitary" EXACT [] +synonym: "adrenocorticotropin secreting neoplasm of the pituitary" EXACT [] +synonym: "adrenocorticotropin secreting pituitary gland tumor" EXACT [] synonym: "adrenocorticotropin secreting pituitary gland tumour" EXACT OMO:0003005 [] -synonym: "adrenocorticotropin secreting tumor of pituitary" EXACT [NCIT:C7909] -synonym: "adrenocorticotropin secreting tumor of the pituitary" EXACT [NCIT:C7909] +synonym: "adrenocorticotropin secreting tumor of pituitary" EXACT [] +synonym: "adrenocorticotropin secreting tumor of the pituitary" EXACT [] synonym: "adrenocorticotropin secreting tumour of pituitary" EXACT OMO:0003005 [] synonym: "adrenocorticotropin secreting tumour of the pituitary" EXACT OMO:0003005 [] -synonym: "corticotropin secreting pituitary gland neoplasm" EXACT [NCIT:C7909] -synonym: "pituitary corticotropin secreting neoplasm" EXACT [NCIT:C7909] -synonym: "pituitary corticotropin secreting tumor" EXACT [NCIT:C7909] +synonym: "corticotropin secreting pituitary gland neoplasm" EXACT [] +synonym: "pituitary corticotropin secreting neoplasm" EXACT [] +synonym: "pituitary corticotropin secreting tumor" EXACT [] synonym: "pituitary corticotropin secreting tumour" EXACT OMO:0003005 [] xref: MEDGEN:82997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C7909 {source="MONDO:equivalentObsolete"} @@ -531143,7 +531239,7 @@ id: MONDO:0049221 name: myopia 26, X-linked, female-limited subset: otar {source="MONDO:OTAR"} synonym: "myopia 26, X-linked, female-limited" EXACT [OMIM:301010] -synonym: "MYP26" RELATED ABBREVIATION [OMIM:301010] +synonym: "MYP26" RELATED ABBREVIATION [] xref: MEDGEN:1618364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301010 {source="MONDO:equivalentTo"} xref: UMLS:C4538795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1618364"} @@ -531156,10 +531252,10 @@ name: intellectual disability, X-linked 107 subset: gard_rare {source="GARD:22698", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual developmental disorder, X-linked 107" EXACT [OMIM:301013, OMIM:genemap2] -synonym: "intellectual disability, X-linked 107" EXACT [OMIM:301013] -synonym: "mental retardation, X-linked 107" RELATED DEPRECATED [OMIM:301013] -synonym: "MRX107" RELATED DEPRECATED [OMIM:301013] +synonym: "intellectual developmental disorder, X-linked 107" EXACT [OMIM:301013] +synonym: "intellectual disability, X-linked 107" EXACT [] +synonym: "mental retardation, X-linked 107" RELATED DEPRECATED [] +synonym: "MRX107" RELATED DEPRECATED [] xref: DOID:0112054 {source="MONDO:equivalentTo"} xref: GARD:22698 {source="MONDO:GARD"} xref: MEDGEN:1639885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531175,9 +531271,9 @@ name: osteogenesis imperfecta, type 19 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "OI19" RELATED ABBREVIATION [OMIM:301014] -synonym: "osteogenesis imperfecta, type XIX" RELATED [OMIM:301014] -synonym: "osteogenesis imperfecta, type XIX, X-linked recessive" EXACT [OMIM:301014, OMIM:genemap2] +synonym: "OI19" RELATED ABBREVIATION [] +synonym: "osteogenesis imperfecta, type XIX" RELATED [] +synonym: "osteogenesis imperfecta, type XIX, X-linked recessive" EXACT [] xref: DOID:0111847 {source="MONDO:equivalentTo"} xref: MEDGEN:1648353 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301014 {source="MONDO:equivalentTo"} @@ -531194,8 +531290,8 @@ name: peroxisome biogenesis disorder 10B subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PBD10B" RELATED ABBREVIATION [OMIM:617370] -synonym: "peroxisome biogenesis disorder 10B" EXACT CLINGEN_LABEL [OMIM:617370] +synonym: "PBD10B" RELATED ABBREVIATION [] +synonym: "peroxisome biogenesis disorder 10B" EXACT CLINGEN_LABEL [DOID:0081440, OMIM:617370] xref: DOID:0081440 {source="MONDO:equivalentTo"} xref: MEDGEN:1379481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617370 {source="MONDO:equivalentTo"} @@ -531214,14 +531310,14 @@ name: avascular necrosis of femoral head, primary, 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ANFH1" RELATED ABBREVIATION [OMIM:608805] +synonym: "ANFH1" RELATED ABBREVIATION [] synonym: "avascular necrosis of femoral head, primary, 1" EXACT [OMIM:608805] -synonym: "avascular necrosis of the femoral head" EXACT [OMIM:608805, OMIM:genemap2] -synonym: "femoral head, aseptic necrosis of" RELATED [OMIM:608805] -synonym: "Femoral head, avascular necrosis of" RELATED [OMIM:608805] +synonym: "avascular necrosis of the femoral head" EXACT [] +synonym: "femoral head, aseptic necrosis of" RELATED [] +synonym: "Femoral head, avascular necrosis of" RELATED [] synonym: "ischaemic necrosis of femoral head" RELATED OMO:0003005 [] -synonym: "ischemic necrosis of femoral head" RELATED [OMIM:608805] -synonym: "osteonecrosis of femoral head" RELATED [OMIM:608805] +synonym: "ischemic necrosis of femoral head" RELATED [] +synonym: "osteonecrosis of femoral head" RELATED [] xref: MEDGEN:1639295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608805 {source="MONDO:equivalentTo"} xref: Orphanet:86820 {source="OMIM:608805"} @@ -531239,7 +531335,7 @@ name: avascular necrosis of femoral head, primary, 2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ANFH2" RELATED ABBREVIATION [OMIM:617383] +synonym: "ANFH2" RELATED ABBREVIATION [] synonym: "avascular necrosis of femoral head, primary, 2" EXACT [OMIM:617383] xref: MEDGEN:1386338 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617383 {source="MONDO:equivalentTo"} @@ -531256,10 +531352,10 @@ subset: ordo_disorder {source="Orphanet:435934"} subset: orphanet_rare {source="Orphanet:435934"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDG Iiq" RELATED ABBREVIATION [OMIM:617395] -synonym: "CDG2Q" RELATED ABBREVIATION [OMIM:617395] -synonym: "COG2-CDG" EXACT ABBREVIATION [MONDO:0018568] -synonym: "COG2-related congenital disorder of glycosylation" EXACT [Orphanet:435934] +synonym: "CDG Iiq" RELATED ABBREVIATION [] +synonym: "CDG2Q" RELATED ABBREVIATION [] +synonym: "COG2-CDG" EXACT ABBREVIATION [DOID:0070269, MONDO:0018568, Orphanet:435934] +synonym: "COG2-related congenital disorder of glycosylation" EXACT [DOID:0070269, Orphanet:435934] xref: DOID:0070269 {source="MONDO:equivalentTo"} xref: GARD:17720 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:435934", source="Orphanet:435934/attributed", source="Orphanet:435934/ntbt"} @@ -531279,12 +531375,12 @@ name: anauxetic dysplasia 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anauxetic dysplasia" RELATED [OMIM:607095] -synonym: "anauxetic dysplasia 1" EXACT [OMIM:607095] -synonym: "ANXD1" RELATED ABBREVIATION [OMIM:607095] -synonym: "spondyloepimetaphyseal dysplasia, anauxetic type" RELATED [OMIM:607095] -synonym: "spondylometaepiphyseal dysplasia, anauxetic type" RELATED [OMIM:607095] -synonym: "spondylometaepiphyseal dysplasia, Menger type" RELATED [OMIM:607095] +synonym: "anauxetic dysplasia" RELATED [] +synonym: "anauxetic dysplasia 1" EXACT [DOID:0050640, OMIM:607095] +synonym: "ANXD1" RELATED ABBREVIATION [] +synonym: "spondyloepimetaphyseal dysplasia, anauxetic type" RELATED [] +synonym: "spondylometaepiphyseal dysplasia, anauxetic type" RELATED [] +synonym: "spondylometaepiphyseal dysplasia, Menger type" RELATED [] xref: DOID:0050640 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} xref: MEDGEN:1638106 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607095 {source="MONDO:equivalentTo"} @@ -531299,8 +531395,8 @@ name: anauxetic dysplasia 2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anauxetic dysplasia 2" EXACT [OMIM:617396] -synonym: "ANXD2" RELATED ABBREVIATION [OMIM:617396] +synonym: "anauxetic dysplasia 2" EXACT [DOID:0080962, OMIM:617396] +synonym: "ANXD2" RELATED ABBREVIATION [] xref: DOID:0080962 {source="MONDO:equivalentTo"} xref: MEDGEN:1384439 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617396 {source="MONDO:equivalentTo"} @@ -531317,8 +531413,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "short-rib thoracic dysplasia 17 with or without POLYDACTYLY" RELATED [OMIM:617405] -synonym: "SRTD17" RELATED ABBREVIATION [OMIM:617405] +synonym: "short-rib thoracic dysplasia 17 with or without POLYDACTYLY" RELATED [] +synonym: "SRTD17" RELATED ABBREVIATION [] xref: MEDGEN:1372794 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617405 {source="MONDO:equivalentTo"} xref: Orphanet:93426 {source="OMIM:617405"} @@ -531330,7 +531426,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0054573 name: Lopes-Maciel-Rodan syndrome subset: otar {source="MONDO:OTAR"} -synonym: "LOMARS" RELATED ABBREVIATION [OMIM:617435] +synonym: "LOMARS" RELATED ABBREVIATION [] synonym: "Lopes-Maciel-Rodan syndrome" EXACT [OMIM:617435] xref: EFO:0009904 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1379711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531346,7 +531442,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:16230", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BDPLT21" RELATED ABBREVIATION [OMIM:617443] +synonym: "BDPLT21" RELATED ABBREVIATION [] synonym: "bleeding disorder, platelet-type, 21" EXACT [OMIM:617443] xref: GARD:16230 {source="MONDO:GARD"} xref: MEDGEN:1386863 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531363,14 +531459,14 @@ name: Townes-Brocks syndrome 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anus, imperforate, with hand, Foot, and Ear anomalies" RELATED [OMIM:107480] -synonym: "deafness, sensorineural, with imperforate anus and thumb anomalies" RELATED [OMIM:107480] -synonym: "rear syndrome" RELATED [OMIM:107480] -synonym: "renal-ear-anal-radial syndrome" RELATED [OMIM:107480] -synonym: "TBS1" RELATED ABBREVIATION [OMIM:107480] -synonym: "townes-brocks branchiootorenal-like syndrome" EXACT [OMIM:107480, OMIM:genemap2] +synonym: "anus, imperforate, with hand, Foot, and Ear anomalies" RELATED [] +synonym: "deafness, sensorineural, with imperforate anus and thumb anomalies" RELATED [] +synonym: "rear syndrome" RELATED [] +synonym: "renal-ear-anal-radial syndrome" RELATED [] +synonym: "TBS1" RELATED ABBREVIATION [] +synonym: "townes-brocks branchiootorenal-like syndrome" EXACT [] synonym: "Townes-Brocks syndrome 1" EXACT [OMIM:107480] -synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [OMIM:107480] +synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [] xref: MEDGEN:1635275 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:107480 {source="MONDO:equivalentTo"} xref: Orphanet:857 {source="OMIM:107480"} @@ -531387,7 +531483,7 @@ name: Townes-Brocks syndrome 2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "TBS2" RELATED ABBREVIATION [OMIM:617466] +synonym: "TBS2" RELATED ABBREVIATION [] synonym: "Townes-Brocks syndrome 2" EXACT [OMIM:617466] xref: MEDGEN:1381939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617466 {source="MONDO:equivalentTo"} @@ -531402,8 +531498,8 @@ name: Noonan syndrome-like disorder with loose anagen hair 2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Noonan syndrome-like disorder with loose anagen hair 2" EXACT CLINGEN_LABEL [OMIM:617506] -synonym: "NSLH2" RELATED ABBREVIATION [OMIM:617506] +synonym: "Noonan syndrome-like disorder with loose anagen hair 2" EXACT CLINGEN_LABEL [DOID:0080693, NCIT:C176940, OMIM:617506] +synonym: "NSLH2" RELATED ABBREVIATION [] xref: DOID:0080693 {source="MONDO:equivalentTo"} xref: MEDGEN:1376945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C176940 {source="MONDO:equivalentTo"} @@ -531419,7 +531515,7 @@ name: Stankiewicz-Isidor syndrome def: "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems." [OMIM:617516] subset: otar {source="MONDO:OTAR"} synonym: "Stankiewicz-Isidor syndrome" EXACT [OMIM:617516] -synonym: "STISS" RELATED ABBREVIATION [OMIM:617516] +synonym: "STISS" RELATED ABBREVIATION [] xref: MEDGEN:1375936 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617516 {source="MONDO:equivalentTo"} xref: UMLS:C4479599 {source="MEDGEN:1375936", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531435,9 +531531,9 @@ name: microcephaly 18, primary, autosomal dominant subset: gard_rare {source="GARD:16233", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH18" RELATED ABBREVIATION [OMIM:617520] +synonym: "MCPH18" RELATED ABBREVIATION [] synonym: "microcephaly 18, primary, autosomal dominant" EXACT [OMIM:617520] -synonym: "primary autosomal dominant microcephaly 18" RELATED [DOID:0070295] +synonym: "primary autosomal dominant microcephaly 18" RELATED [] xref: DOID:0070295 {source="MONDO:equivalentTo"} xref: GARD:16233 {source="MONDO:GARD"} xref: MEDGEN:1391110 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531454,8 +531550,8 @@ name: pituitary adenoma 5, multiple types subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PITA5" RELATED ABBREVIATION [OMIM:617540] -synonym: "pituitary adenoma 5, multiple types" EXACT [OMIM:617540] +synonym: "PITA5" RELATED ABBREVIATION [] +synonym: "pituitary adenoma 5, multiple types" EXACT [DOID:0112008, OMIM:617540] xref: DOID:0112008 {source="MONDO:equivalentTo"} xref: MEDGEN:1615593 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617540 {source="MONDO:equivalentTo"} @@ -531468,8 +531564,8 @@ name: gaze palsy, familial horizontal, with progressive scoliosis, 2 subset: gard_rare {source="GARD:16234", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "gaze palsy, familial horizontal, with progressive scoliosis, 2" EXACT [OMIM:617542] -synonym: "HGPPS2" RELATED ABBREVIATION [OMIM:617542] +synonym: "gaze palsy, familial horizontal, with progressive scoliosis, 2" EXACT [] +synonym: "HGPPS2" RELATED ABBREVIATION [] xref: GARD:16234 {source="MONDO:GARD"} xref: MEDGEN:1393733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617542 {source="MONDO:equivalentTo"} @@ -531483,8 +531579,8 @@ name: spermatogenic failure 18 subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18402", source="MONDO:GARD"} subset: rare -synonym: "spermatogenic failure 18" EXACT [OMIM:617576] -synonym: "SPGF18" RELATED ABBREVIATION [OMIM:617576] +synonym: "spermatogenic failure 18" EXACT [DOID:0070165, OMIM:617576] +synonym: "SPGF18" RELATED ABBREVIATION [] xref: DOID:0070165 {source="MONDO:equivalentTo"} xref: GARD:18402 {source="MONDO:GARD"} xref: MEDGEN:1617309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531504,9 +531600,9 @@ subset: ordo_disorder {source="Orphanet:513456"} subset: orphanet_rare {source="Orphanet:513456"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual disability with seizures, abnormal Gait, and distinctive Facial features" RELATED [OMIM:617616] -synonym: "SKDEAS" RELATED ABBREVIATION [OMIM:617616] -synonym: "Skraban-Deardorff syndrome" EXACT [OMIM:617616] +synonym: "intellectual disability with seizures, abnormal Gait, and distinctive Facial features" RELATED [] +synonym: "SKDEAS" RELATED ABBREVIATION [] +synonym: "Skraban-Deardorff syndrome" EXACT [OMIM:617616, Orphanet:513456] synonym: "WDR26-Related Disorder" EXACT [NORD:153230] xref: GARD:17953 {source="MONDO:GARD"} xref: MEDGEN:1627555 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531524,11 +531620,11 @@ name: Noonan syndrome-like disorder with loose anagen hair 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Noonan syndrome-like disorder with loose anagen hair 1" EXACT CLINGEN_LABEL [OMIM:607721] -synonym: "Noonan syndrome-like with loose anagen hair 1" EXACT [OMIM:607721, OMIM:genemap2] -synonym: "NSLH" BROAD ABBREVIATION [OMIM:607721] -synonym: "NSLH1" EXACT ABBREVIATION [OMIM:607721] -synonym: "Tosti syndrome" RELATED [OMIM:607721] +synonym: "Noonan syndrome-like disorder with loose anagen hair 1" EXACT CLINGEN_LABEL [DOID:0080692, NCIT:C176939, OMIM:607721] +synonym: "Noonan syndrome-like with loose anagen hair 1" EXACT [] +synonym: "NSLH" BROAD ABBREVIATION [] +synonym: "NSLH1" EXACT ABBREVIATION [NCIT:C176939, OMIM:607721] +synonym: "Tosti syndrome" RELATED [] xref: DOID:0080692 {source="MONDO:equivalentTo"} xref: MEDGEN:1379805 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C176939 {source="MONDO:equivalentTo"} @@ -531545,8 +531641,8 @@ id: MONDO:0054654 name: combined oxidative phosphorylation deficiency 32 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 32" EXACT [OMIM:617664] -synonym: "COXPD32" RELATED ABBREVIATION [OMIM:617664] +synonym: "combined oxidative phosphorylation deficiency 32" EXACT [DOID:0111492, OMIM:617664] +synonym: "COXPD32" RELATED ABBREVIATION [] xref: DOID:0111492 {source="MONDO:equivalentTo"} xref: MEDGEN:1617600 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617664 {source="MONDO:equivalentTo"} @@ -531560,9 +531656,9 @@ name: pituitary adenoma 3, multiple types subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PITA3" RELATED ABBREVIATION [OMIM:617686] -synonym: "pituitary adenoma 3, multiple types" EXACT [OMIM:617686] -synonym: "pituitary adenoma 3, multiple types, somatic" EXACT [OMIM:617686, OMIM:genemap2] +synonym: "PITA3" RELATED ABBREVIATION [] +synonym: "pituitary adenoma 3, multiple types" EXACT [DOID:0112010, OMIM:617686] +synonym: "pituitary adenoma 3, multiple types, somatic" EXACT [] xref: DOID:0112010 {source="MONDO:equivalentTo"} xref: MEDGEN:1620824 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617686 {source="MONDO:equivalentTo"} @@ -531577,8 +531673,8 @@ name: ovarian dysgenesis 5 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ODG5" RELATED ABBREVIATION [OMIM:617690] -synonym: "ovarian dysgenesis 5" EXACT [OMIM:617690] +synonym: "ODG5" RELATED ABBREVIATION [] +synonym: "ovarian dysgenesis 5" EXACT [DOID:0080497, OMIM:617690] xref: DOID:0080497 {source="MONDO:equivalentTo"} xref: MEDGEN:1627972 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617690 {source="MONDO:equivalentTo"} @@ -531594,7 +531690,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:611247"} subset: orphanet_rare {source="Orphanet:611247"} subset: rare -synonym: "PCH11" EXACT ABBREVIATION [OMIM:617695, Orphanet:611247] +synonym: "PCH11" EXACT ABBREVIATION [DOID:0112324, OMIM:617695, Orphanet:611247] synonym: "Pontocerebellar hypoplasia due to TBC1D23" EXACT [Orphanet:611247] synonym: "pontocerebellar hypoplasia, type 11" EXACT [OMIM:617695] xref: DOID:0112324 {source="MONDO:equivalentTo"} @@ -531611,8 +531707,8 @@ id: MONDO:0054677 name: combined oxidative phosphorylation deficiency 33 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 33" EXACT [OMIM:617713] -synonym: "COXPD33" RELATED ABBREVIATION [OMIM:617713] +synonym: "combined oxidative phosphorylation deficiency 33" EXACT [DOID:0111495, NCIT:C174440, OMIM:617713] +synonym: "COXPD33" RELATED ABBREVIATION [] xref: DOID:0111495 {source="MONDO:equivalentTo"} xref: MEDGEN:1623699 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C174440 {source="MONDO:equivalentTo"} @@ -531629,9 +531725,9 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:647676"} subset: orphanet_rare {source="Orphanet:647676"} subset: rare -synonym: "EDM7" RELATED ABBREVIATION [OMIM:617719] +synonym: "EDM7" RELATED ABBREVIATION [] synonym: "epiphyseal dysplasia, multiple, 7" EXACT [OMIM:617719] -synonym: "multiple epiphyseal dysplasia 7" RELATED [DOID:0070302] +synonym: "multiple epiphyseal dysplasia 7" RELATED [] synonym: "multiple epiphyseal dysplasia type 7" EXACT [Orphanet:647676] xref: DOID:0070302 {source="MONDO:equivalentTo"} xref: MEDGEN:1620874 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531650,9 +531746,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CVID14" RELATED ABBREVIATION [OMIM:617765] -synonym: "immunodeficiency, COMMON variable, 14" RELATED [OMIM:617765] -synonym: "immunodeficiency, common variable, 14" EXACT CLINGEN_LABEL [] +synonym: "CVID14" RELATED ABBREVIATION [] +synonym: "immunodeficiency, COMMON variable, 14" RELATED [] +synonym: "immunodeficiency, common variable, 14" EXACT CLINGEN_LABEL [OMIM:617765] xref: DOID:0081156 {source="MONDO:equivalentTo"} xref: MEDGEN:1614928 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617765 {source="MONDO:equivalentTo"} @@ -531667,10 +531763,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:16250", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "centronuclear myopathy 6 with fiber-type disproportion" EXACT [OMIM:617760, OMIM:genemap2] -synonym: "CNM6" RELATED ABBREVIATION [OMIM:617760] -synonym: "myopathy, centronuclear, 6, with FIBER-type disproportion" RELATED [OMIM:617760] -synonym: "myopathy, centronuclear, 6, with fiber-type disproportion" EXACT CLINGEN_LABEL [] +synonym: "centronuclear myopathy 6 with fiber-type disproportion" EXACT [DOID:0111221] +synonym: "CNM6" RELATED ABBREVIATION [] +synonym: "myopathy, centronuclear, 6, with FIBER-type disproportion" RELATED [] +synonym: "myopathy, centronuclear, 6, with fiber-type disproportion" EXACT CLINGEN_LABEL [OMIM:617760] xref: DOID:0111221 {source="MONDO:equivalentTo"} xref: GARD:16250 {source="MONDO:GARD"} xref: MEDGEN:1627492 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531686,8 +531782,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0054696 name: immunodeficiency 53 subset: clingen {source="MONDO:CLINGEN"} -synonym: "IMD53" RELATED ABBREVIATION [OMIM:617585] -synonym: "immunodeficiency 53" EXACT [OMIM:617585] +synonym: "IMD53" RELATED ABBREVIATION [] +synonym: "immunodeficiency 53" EXACT [DOID:0111992, OMIM:617585] xref: DOID:0111992 {source="MONDO:equivalentTo"} xref: MEDGEN:1612104 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617585 {source="MONDO:equivalentTo"} @@ -531699,9 +531795,9 @@ relationship: curated_content_resource https://search.clinicalgenome.org/kb/cond id: MONDO:0054697 name: immunodeficiency 11b with atopic dermatitis subset: clingen {source="MONDO:CLINGEN"} -synonym: "atopic dermatitis, elevated IgE, and eosinophilia" RELATED [OMIM:617638] -synonym: "IMD11B" RELATED ABBREVIATION [OMIM:617638] -synonym: "immunodeficiency 11B with ATOPIC dermatitis" RELATED [OMIM:617638] +synonym: "atopic dermatitis, elevated IgE, and eosinophilia" RELATED [] +synonym: "IMD11B" RELATED ABBREVIATION [] +synonym: "immunodeficiency 11B with ATOPIC dermatitis" RELATED [] xref: DOID:0111958 {source="MONDO:equivalentTo"} xref: MEDGEN:1627819 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C176630 {source="MONDO:equivalentTo"} @@ -531717,15 +531813,15 @@ name: proteasome-associated autoinflammatory syndrome 1 subset: gard_rare {source="GARD:3916", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" RELATED [OMIM:256040] -synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" RELATED [OMIM:256040] -synonym: "JMP syndrome" RELATED [OMIM:256040] -synonym: "joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy" RELATED [OMIM:256040] -synonym: "Nakajo-Nishimura syndrome" RELATED [OMIM:256040] -synonym: "PRAAS1" EXACT ABBREVIATION [OMIM:256040] -synonym: "proteasome-associated autoinflammatory syndrome 1" EXACT [OMIM:256040] -synonym: "proteasome-associated autoinflammatory syndrome 1 and digenic forms" EXACT [OMIM:256040, OMIM:genemap2] -synonym: "proteasome-associated autoinflammatory syndrome 1, digenic" RELATED [OMIM:256040] +synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" RELATED [] +synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" RELATED [] +synonym: "JMP syndrome" RELATED [] +synonym: "joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy" RELATED [] +synonym: "Nakajo-Nishimura syndrome" RELATED [] +synonym: "PRAAS1" EXACT ABBREVIATION [NCIT:C176619, OMIM:256040] +synonym: "proteasome-associated autoinflammatory syndrome 1" EXACT [NCIT:C176619, OMIM:256040] +synonym: "proteasome-associated autoinflammatory syndrome 1 and digenic forms" EXACT [] +synonym: "proteasome-associated autoinflammatory syndrome 1, digenic" RELATED [] xref: GARD:3916 {source="MONDO:GARD"} xref: MEDGEN:1648310 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C176619 {source="MONDO:equivalentTo"} @@ -531746,10 +531842,10 @@ subset: gard_rare {source="GARD:18446", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PRAAS3" RELATED ABBREVIATION [OMIM:617591] -synonym: "proteasome-associated autoinflammatory syndrome 3" EXACT [OMIM:617591] -synonym: "proteasome-associated autoinflammatory syndrome 3 and digenic forms" EXACT [OMIM:617591, OMIM:genemap2] -synonym: "proteasome-associated autoinflammatory syndrome 3, digenic" RELATED [OMIM:617591] +synonym: "PRAAS3" RELATED ABBREVIATION [] +synonym: "proteasome-associated autoinflammatory syndrome 3" EXACT [DOID:0060916, OMIM:617591] +synonym: "proteasome-associated autoinflammatory syndrome 3 and digenic forms" EXACT [] +synonym: "proteasome-associated autoinflammatory syndrome 3, digenic" RELATED [] xref: DOID:0060916 {source="MONDO:equivalentTo"} xref: GARD:18446 {source="MONDO:GARD"} xref: MEDGEN:1648456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531765,7 +531861,7 @@ subset: gard_rare {source="GARD:18447", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PRAAS2" RELATED ABBREVIATION [OMIM:618048] +synonym: "PRAAS2" RELATED ABBREVIATION [] synonym: "proteasome-associated autoinflammatory syndrome 2" EXACT [OMIM:618048] xref: DOID:0060914 {source="MONDO:equivalentTo"} xref: GARD:18447 {source="MONDO:GARD"} @@ -531782,8 +531878,8 @@ subset: gard_rare {source="GARD:18382", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Kleefstra syndrome 2" EXACT [OMIM:617768] -synonym: "KLEFS2" RELATED ABBREVIATION [OMIM:617768] +synonym: "Kleefstra syndrome 2" EXACT [DOID:0080598, OMIM:617768] +synonym: "KLEFS2" RELATED ABBREVIATION [] xref: DOID:0080598 {source="MONDO:equivalentTo"} xref: GARD:18382 {source="MONDO:GARD"} xref: MEDGEN:1623903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531799,8 +531895,8 @@ name: retinitis pigmentosa 80 subset: gard_rare {source="GARD:16252", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RETINITIS pigmentosa 80" RELATED [OMIM:617781] -synonym: "RP80" RELATED ABBREVIATION [OMIM:617781] +synonym: "RETINITIS pigmentosa 80" RELATED [] +synonym: "RP80" RELATED ABBREVIATION [] xref: GARD:16252 {source="MONDO:GARD"} xref: MEDGEN:1619674 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617781 {source="MONDO:equivalentTo"} @@ -531816,9 +531912,9 @@ name: microcephaly 19, primary, autosomal recessive subset: gard_rare {source="GARD:16253", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH19" RELATED ABBREVIATION [OMIM:617800] -synonym: "microcephaly 19, PRIMARY, autosomal recessive" RELATED [OMIM:617800] -synonym: "primary autosomal recessive microcephaly 19" RELATED [DOID:0070281] +synonym: "MCPH19" RELATED ABBREVIATION [] +synonym: "microcephaly 19, PRIMARY, autosomal recessive" RELATED [] +synonym: "primary autosomal recessive microcephaly 19" RELATED [] xref: DOID:0070281 {source="MONDO:equivalentTo"} xref: GARD:16253 {source="MONDO:GARD"} xref: MEDGEN:1616860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531832,8 +531928,8 @@ name: geleophysic dysplasia 3 subset: gard_rare {source="GARD:16255", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "GELEOPHYSIC dysplasia 3" RELATED [OMIM:617809] -synonym: "GPHYSD3" RELATED ABBREVIATION [OMIM:617809] +synonym: "GELEOPHYSIC dysplasia 3" RELATED [] +synonym: "GPHYSD3" RELATED ABBREVIATION [] xref: DOID:0111727 {source="MONDO:equivalentTo"} xref: GARD:16255 {source="MONDO:GARD"} xref: MEDGEN:1615724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531851,8 +531947,8 @@ name: spermatogenic failure 19 subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18403", source="MONDO:GARD"} subset: rare -synonym: "spermatogenic failure 19" EXACT [OMIM:617592] -synonym: "SPGF19" RELATED ABBREVIATION [OMIM:617592] +synonym: "spermatogenic failure 19" EXACT [DOID:0070170, OMIM:617592] +synonym: "SPGF19" RELATED ABBREVIATION [] xref: DOID:0070170 {source="MONDO:equivalentTo"} xref: GARD:18403 {source="MONDO:GARD"} xref: MEDGEN:1614356 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531868,8 +531964,8 @@ id: MONDO:0054724 name: spermatogenic failure 20 subset: gard_rare {source="GARD:18404", source="MONDO:GARD"} subset: rare -synonym: "spermatogenic failure 20" EXACT [OMIM:617593] -synonym: "SPGF20" RELATED ABBREVIATION [OMIM:617593] +synonym: "spermatogenic failure 20" EXACT [DOID:0070166, OMIM:617593] +synonym: "SPGF20" RELATED ABBREVIATION [] xref: DOID:0070166 {source="MONDO:equivalentTo"} xref: GARD:18404 {source="MONDO:GARD"} xref: MEDGEN:1621256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531882,8 +531978,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0054725 name: spermatogenic failure 21 -synonym: "spermatogenic failure 21" EXACT [OMIM:617644] -synonym: "SPGF21" RELATED ABBREVIATION [OMIM:617644] +synonym: "spermatogenic failure 21" EXACT [DOID:0070163, OMIM:617644] +synonym: "SPGF21" RELATED ABBREVIATION [] xref: DOID:0070163 {source="MONDO:equivalentTo"} xref: MEDGEN:1617056 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617644 {source="MONDO:equivalentTo"} @@ -531896,8 +531992,8 @@ name: spermatogenic failure 22 subset: gard_rare {source="GARD:16245", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spermatogenic failure 22" EXACT [OMIM:617706] -synonym: "SPGF22" RELATED ABBREVIATION [OMIM:617706] +synonym: "spermatogenic failure 22" EXACT [DOID:0070177, OMIM:617706] +synonym: "SPGF22" RELATED ABBREVIATION [] xref: DOID:0070177 {source="MONDO:equivalentTo"} xref: GARD:16245 {source="MONDO:GARD"} xref: MEDGEN:1618089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531913,8 +532009,8 @@ name: spermatogenic failure 23 subset: gard_rare {source="GARD:16246", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spermatogenic failure 23" EXACT [OMIM:617707] -synonym: "SPGF23" RELATED ABBREVIATION [OMIM:617707] +synonym: "spermatogenic failure 23" EXACT [DOID:0070181, OMIM:617707] +synonym: "SPGF23" RELATED ABBREVIATION [] xref: DOID:0070181 {source="MONDO:equivalentTo"} xref: GARD:16246 {source="MONDO:GARD"} xref: MEDGEN:1626589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531927,8 +532023,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0054728 name: spermatogenic failure 24 subset: otar {source="MONDO:OTAR"} -synonym: "spermatogenic failure 24" EXACT [OMIM:617959] -synonym: "SPGF24" RELATED ABBREVIATION [OMIM:617959] +synonym: "spermatogenic failure 24" EXACT [DOID:0111929, OMIM:617959] +synonym: "SPGF24" RELATED ABBREVIATION [] xref: DOID:0111929 {source="MONDO:equivalentTo"} xref: MEDGEN:1646063 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617959 {source="MONDO:equivalentTo"} @@ -531942,8 +532038,8 @@ name: spermatogenic failure 25 subset: gard_rare {source="GARD:16274", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spermatogenic failure 25" EXACT [OMIM:617960] -synonym: "SPGF25" RELATED ABBREVIATION [OMIM:617960] +synonym: "spermatogenic failure 25" EXACT [DOID:0111920, OMIM:617960] +synonym: "SPGF25" RELATED ABBREVIATION [] xref: DOID:0111920 {source="MONDO:equivalentTo"} xref: GARD:16274 {source="MONDO:GARD"} xref: MEDGEN:1646677 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531957,8 +532053,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0054730 name: spermatogenic failure 26 subset: otar {source="MONDO:OTAR"} -synonym: "spermatogenic failure 26" EXACT [OMIM:617961] -synonym: "SPGF26" RELATED ABBREVIATION [OMIM:617961] +synonym: "spermatogenic failure 26" EXACT [DOID:0111924, OMIM:617961] +synonym: "SPGF26" RELATED ABBREVIATION [] xref: DOID:0111924 {source="MONDO:equivalentTo"} xref: MEDGEN:1644751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617961 {source="MONDO:equivalentTo"} @@ -531971,8 +532067,8 @@ name: spermatogenic failure 27 subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:18405", source="MONDO:GARD"} subset: rare -synonym: "spermatogenic failure 27" EXACT [OMIM:617965] -synonym: "SPGF27" RELATED ABBREVIATION [OMIM:617965] +synonym: "spermatogenic failure 27" EXACT [DOID:0111928, OMIM:617965] +synonym: "SPGF27" RELATED ABBREVIATION [] xref: DOID:0111928 {source="MONDO:equivalentTo"} xref: GARD:18405 {source="MONDO:GARD"} xref: MEDGEN:1634748 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -531988,8 +532084,8 @@ name: spermatogenic failure 28 subset: gard_rare {source="GARD:16290", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "spermatogenic failure 28" EXACT [OMIM:618086] -synonym: "SPGF28" RELATED ABBREVIATION [OMIM:618086] +synonym: "spermatogenic failure 28" EXACT [DOID:0111916, OMIM:618086] +synonym: "SPGF28" RELATED ABBREVIATION [] xref: DOID:0111916 {source="MONDO:equivalentTo"} xref: GARD:16290 {source="MONDO:GARD"} xref: MEDGEN:1648494 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532002,8 +532098,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0054733 name: spermatogenic failure 29 subset: otar {source="MONDO:OTAR"} -synonym: "spermatogenic failure 29" EXACT [OMIM:618091] -synonym: "SPGF29" RELATED ABBREVIATION [OMIM:618091] +synonym: "spermatogenic failure 29" EXACT [DOID:0111930, OMIM:618091] +synonym: "SPGF29" RELATED ABBREVIATION [] xref: DOID:0111930 {source="MONDO:equivalentTo"} xref: MEDGEN:1648499 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618091 {source="MONDO:equivalentTo"} @@ -532016,8 +532112,8 @@ name: mosaic variegated aneuploidy syndrome 3 subset: gard_rare {source="GARD:16240", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MOSAIC variegated aneuploidy syndrome 3" RELATED [OMIM:617598] -synonym: "MVA3" RELATED ABBREVIATION [OMIM:617598] +synonym: "MOSAIC variegated aneuploidy syndrome 3" RELATED [] +synonym: "MVA3" RELATED ABBREVIATION [] xref: DOID:0080689 {source="MONDO:equivalentTo"} xref: GARD:16240 {source="MONDO:GARD"} xref: MEDGEN:1616382 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532034,11 +532130,11 @@ name: Fraser syndrome 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cryptophthalmos with Other malformations" RELATED [OMIM:219000] -synonym: "cryptophthalmos-syndactyly syndrome" RELATED [OMIM:219000] -synonym: "Fraser syndrome" RELATED [OMIM:219000] -synonym: "Fraser syndrome 1" EXACT [OMIM:219000] -synonym: "FRASRS1" RELATED ABBREVIATION [OMIM:219000] +synonym: "cryptophthalmos with Other malformations" RELATED [] +synonym: "cryptophthalmos-syndactyly syndrome" RELATED [] +synonym: "Fraser syndrome" RELATED [] +synonym: "Fraser syndrome 1" EXACT [DOID:0111405, OMIM:219000] +synonym: "FRASRS1" RELATED ABBREVIATION [] xref: DOID:0111405 {source="MONDO:equivalentTo"} xref: MEDGEN:1639061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:219000 {source="MONDO:equivalentTo"} @@ -532053,8 +532149,8 @@ name: Fraser syndrome 2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Fraser syndrome 2" EXACT [OMIM:617666] -synonym: "FRASRS2" RELATED ABBREVIATION [OMIM:617666] +synonym: "Fraser syndrome 2" EXACT [DOID:0111407, OMIM:617666] +synonym: "FRASRS2" RELATED ABBREVIATION [] xref: DOID:0111407 {source="MONDO:equivalentTo"} xref: MEDGEN:1624349 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617666 {source="MONDO:equivalentTo"} @@ -532070,8 +532166,8 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Fraser syndrome 3" EXACT [OMIM:617667] -synonym: "FRASRS3" RELATED ABBREVIATION [OMIM:617667] +synonym: "Fraser syndrome 3" EXACT [DOID:0111406, OMIM:617667] +synonym: "FRASRS3" RELATED ABBREVIATION [] xref: DOID:0111406 {source="MONDO:equivalentTo"} xref: MEDGEN:1621907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617667 {source="MONDO:equivalentTo"} @@ -532088,16 +532184,16 @@ def: "Any blepharo-cheilo-odontic syndrome in which the cause of the disease is subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BCD syndrome" RELATED [OMIM:119580] -synonym: "BCDS1" RELATED ABBREVIATION [OMIM:119580] +synonym: "BCD syndrome" RELATED [] +synonym: "BCDS1" RELATED ABBREVIATION [] synonym: "blepharo-cheilo-odontic syndrome caused by mutation in CDH1" EXACT [] -synonym: "blepharocheilodontic syndrome" RELATED [OMIM:119580] -synonym: "blepharocheilodontic syndrome 1" EXACT [OMIM:119580] +synonym: "blepharocheilodontic syndrome" RELATED [] +synonym: "blepharocheilodontic syndrome 1" EXACT [DOID:0080345, OMIM:119580] synonym: "CDH1 blepharo-cheilo-odontic syndrome" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "clefting, ectropion, and conical teeth" RELATED [OMIM:119580] -synonym: "ectropion, Inferior, with cleft 51P and/Or palate" RELATED [OMIM:119580] -synonym: "elschnig syndrome" RELATED [OMIM:119580] -synonym: "Lagophthalmia with bilateral cleft 51P and palate" RELATED [OMIM:119580] +synonym: "clefting, ectropion, and conical teeth" RELATED [] +synonym: "ectropion, Inferior, with cleft 51P and/Or palate" RELATED [] +synonym: "elschnig syndrome" RELATED [] +synonym: "Lagophthalmia with bilateral cleft 51P and palate" RELATED [] xref: DOID:0080345 {source="MONDO:equivalentTo"} xref: MEDGEN:1632198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:119580 {source="DOID:0080345", source="MONDO:equivalentTo"} @@ -532116,11 +532212,11 @@ subset: ordo_disorder {source="Orphanet:457223"} subset: orphanet_rare {source="Orphanet:457223"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 34" EXACT [OMIM:617872] -synonym: "COXPD34" RELATED ABBREVIATION [OMIM:617872] -synonym: "syndromic sensorineural deafness due to combined oxidative phosphorylation defect" EXACT [Orphanet:457223] -synonym: "syndromic sensorineural deafness due to COXPD" EXACT [Orphanet:457223] -synonym: "syndromic sensorineural hearing loss due to COXPD" EXACT [Orphanet:457223] +synonym: "combined oxidative phosphorylation deficiency 34" EXACT [DOID:0111497, OMIM:617872] +synonym: "COXPD34" RELATED ABBREVIATION [] +synonym: "syndromic sensorineural deafness due to combined oxidative phosphorylation defect" EXACT [DOID:0111497, Orphanet:457223] +synonym: "syndromic sensorineural deafness due to COXPD" EXACT [DOID:0111497, Orphanet:457223] +synonym: "syndromic sensorineural hearing loss due to COXPD" EXACT [DOID:0111497, Orphanet:457223] xref: DOID:0111497 {source="MONDO:equivalentTo"} xref: GARD:17799 {source="MONDO:GARD"} xref: ICD10CM:G31.8 {source="Orphanet:457223/attributed", source="Orphanet:457223/ntbt", source="Orphanet:457223"} @@ -532137,8 +532233,8 @@ name: combined oxidative phosphorylation deficiency 35 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 35" EXACT [OMIM:617873] -synonym: "COXPD35" RELATED ABBREVIATION [OMIM:617873] +synonym: "combined oxidative phosphorylation deficiency 35" EXACT [DOID:0111464, OMIM:617873] +synonym: "COXPD35" RELATED ABBREVIATION [] xref: DOID:0111464 {source="MONDO:equivalentTo"} xref: MEDGEN:1639653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617873 {source="MONDO:equivalentTo"} @@ -532154,7 +532250,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "PCLD3" RELATED ABBREVIATION [OMIM:617874] +synonym: "PCLD3" RELATED ABBREVIATION [] synonym: "polycystic liver disease 3 with or without kidney cysts" EXACT CLINGEN_LABEL [OMIM:617874] xref: DOID:0060976 {source="MONDO:equivalentTo"} xref: MEDGEN:1646969 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532172,9 +532268,9 @@ subset: gard_rare {source="GARD:16264", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Fanconi anemia, complementation GROUP S" RELATED [OMIM:617883] -synonym: "Fanconi anemia, complementation group S" EXACT CLINGEN_LABEL [] -synonym: "FANCS" RELATED ABBREVIATION [OMIM:617883] +synonym: "Fanconi anemia, complementation GROUP S" RELATED [] +synonym: "Fanconi anemia, complementation group S" EXACT CLINGEN_LABEL [OMIM:617883] +synonym: "FANCS" RELATED ABBREVIATION [] xref: DOID:0060979 {source="MONDO:equivalentTo"} xref: GARD:16264 {source="MONDO:GARD"} xref: MEDGEN:1632414 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532188,10 +532284,10 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ [Term] id: MONDO:0054749 name: obsolete body mass index quantitative trait locus 19 -synonym: "BMIQ19" RELATED ABBREVIATION [OMIM:617885] -synonym: "body MASS index quantitative trait locus 19" RELATED [OMIM:617885] -synonym: "obesity, Susceptibility to" RELATED [OMIM:617885] -synonym: "obesity, susceptibility to, BMIQ19" EXACT [OMIM:617885, OMIM:genemap2] +synonym: "BMIQ19" RELATED ABBREVIATION [] +synonym: "body MASS index quantitative trait locus 19" RELATED [] +synonym: "obesity, Susceptibility to" RELATED [] +synonym: "obesity, susceptibility to, BMIQ19" EXACT [] xref: OMIM:617885 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI is_obsolete: true @@ -532201,7 +532297,7 @@ id: MONDO:0054750 name: amyotrophic lateral sclerosis, susceptibility to, 24 subset: clingen {source="MONDO:CLINGEN"} subset: predisposition -synonym: "ALS24" RELATED ABBREVIATION [OMIM:617892] +synonym: "ALS24" RELATED ABBREVIATION [] synonym: "amyotrophic lateral sclerosis, susceptibility to, 24" EXACT [OMIM:617892] xref: DOID:0081378 {source="MONDO:equivalentTo"} xref: MEDGEN:1632999 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532219,8 +532315,8 @@ name: multiple synostoses syndrome 4 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "multiple synostoses syndrome 4" EXACT [OMIM:617898] -synonym: "SYNS4" RELATED ABBREVIATION [OMIM:617898] +synonym: "multiple synostoses syndrome 4" EXACT [DOID:0081320, OMIM:617898] +synonym: "SYNS4" RELATED ABBREVIATION [] xref: DOID:0081320 {source="MONDO:equivalentTo"} xref: MEDGEN:1638842 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617898 {source="MONDO:equivalentTo"} @@ -532233,9 +532329,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0054754 name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 subset: predisposition -synonym: "encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8" RELATED [OMIM:617900] -synonym: "Herpes simplex encephalitis, Susceptibility to, 6" RELATED [OMIM:617900] -synonym: "IIAE8" RELATED ABBREVIATION [OMIM:617900] +synonym: "encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8" RELATED [] +synonym: "Herpes simplex encephalitis, Susceptibility to, 6" RELATED [] +synonym: "IIAE8" RELATED ABBREVIATION [] xref: MEDGEN:1646997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617900 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:617900"} @@ -532251,8 +532347,8 @@ name: microcephaly 20, primary, autosomal recessive subset: gard_rare {source="GARD:16268", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH20" RELATED ABBREVIATION [OMIM:617914] -synonym: "microcephaly 20, PRIMARY, autosomal recessive" RELATED [OMIM:617914] +synonym: "MCPH20" RELATED ABBREVIATION [] +synonym: "microcephaly 20, PRIMARY, autosomal recessive" RELATED [] xref: GARD:16268 {source="MONDO:GARD"} xref: MEDGEN:1641618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617914 {source="MONDO:equivalentTo"} @@ -532267,7 +532363,7 @@ name: neurodegeneration with brain iron accumulation 7 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "NBIA7" RELATED ABBREVIATION [OMIM:617916] +synonym: "NBIA7" RELATED ABBREVIATION [] synonym: "neurodegeneration with brain iron accumulation 7" EXACT [OMIM:617916] xref: MEDGEN:1647672 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617916 {source="MONDO:equivalentTo"} @@ -532281,7 +532377,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NBIA8" RELATED ABBREVIATION [OMIM:617917] +synonym: "NBIA8" RELATED ABBREVIATION [] synonym: "neurodegeneration with brain iron accumulation 8" EXACT [OMIM:617917] xref: MEDGEN:1645224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617917 {source="MONDO:equivalentTo"} @@ -532293,9 +532389,9 @@ id: MONDO:0054765 name: amyloidosis, primary localized cutaneous, 3 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "amyloidosis cutis dyschromica" RELATED [OMIM:617920] -synonym: "amyloidosis, PRIMARY LOCALIZED cutaneous, 3" RELATED [OMIM:617920] -synonym: "PLCA3" RELATED ABBREVIATION [OMIM:617920] +synonym: "amyloidosis cutis dyschromica" RELATED [] +synonym: "amyloidosis, PRIMARY LOCALIZED cutaneous, 3" RELATED [] +synonym: "PLCA3" RELATED ABBREVIATION [] xref: MEDGEN:1640641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617920 {source="MONDO:equivalentTo"} xref: Orphanet:319635 {source="OMIM:617920"} @@ -532311,10 +532407,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "OFD18" EXACT ABBREVIATION [OMIM:617927, Orphanet:508501] synonym: "Ofds 18" EXACT [OMIM:617927] -synonym: "oral-facial-digital syndrome type 18" EXACT [OMIM:617927, Orphanet:508501] -synonym: "oral-facial-digital syndrome with short stature and brachymesophalangy" EXACT [MONDO:0034823] -synonym: "orofaciodigital syndrome type 18" EXACT [Orphanet:508501] -synonym: "orofaciodigital syndrome XVIII" EXACT [OMIM:617927] +synonym: "oral-facial-digital syndrome type 18" EXACT [DOID:0060961, Orphanet:508501] +synonym: "oral-facial-digital syndrome with short stature and brachymesophalangy" EXACT [DOID:0060961, MONDO:0034823, Orphanet:508501] +synonym: "orofaciodigital syndrome type 18" EXACT [DOID:0060961, Orphanet:508501] +synonym: "orofaciodigital syndrome XVIII" EXACT [DOID:0060961] xref: DOID:0060961 {source="MONDO:equivalentTo"} xref: MEDGEN:1799326 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617927 {source="MONDO:equivalentTo"} @@ -532331,7 +532427,7 @@ name: keratoconus 9 subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "keratoconus 9" EXACT [OMIM:617928] -synonym: "KTCN9" RELATED ABBREVIATION [OMIM:617928] +synonym: "KTCN9" RELATED ABBREVIATION [] xref: MEDGEN:1645093 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617928 {source="MONDO:equivalentTo"} xref: UMLS:C4693660 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1645093"} @@ -532344,8 +532440,8 @@ name: epilepsy, familial focal, with variable foci 4 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "epilepsy, FAMILIAL focal, with variable foci 4" RELATED [OMIM:617935] -synonym: "FFEVF4" RELATED ABBREVIATION [OMIM:617935] +synonym: "epilepsy, FAMILIAL focal, with variable foci 4" RELATED [] +synonym: "FFEVF4" RELATED ABBREVIATION [] xref: DOID:0081424 {source="MONDO:equivalentTo"} xref: MEDGEN:1644614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617935 {source="MONDO:equivalentTo"} @@ -532359,11 +532455,11 @@ name: elliptocytosis 3 subset: gard_rare {source="GARD:16273", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "anemia, neonatal hemolytic, fatal or near-fatal" EXACT [OMIM:617948, OMIM:genemap2] -synonym: "anemia, perinatal hemolytic, fatal or near-fatal" RELATED [OMIM:617948] -synonym: "EL3" RELATED ABBREVIATION [OMIM:617948] +synonym: "anemia, neonatal hemolytic, fatal or near-fatal" EXACT [] +synonym: "anemia, perinatal hemolytic, fatal or near-fatal" RELATED [] +synonym: "EL3" RELATED ABBREVIATION [] synonym: "elliptocytosis 3" EXACT [OMIM:617948] -synonym: "elliptocytosis-3" EXACT [OMIM:617948, OMIM:genemap2] +synonym: "elliptocytosis-3" EXACT [] xref: GARD:16273 {source="MONDO:GARD"} xref: MEDGEN:357139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566678 {source="MONDO:equivalentTo"} @@ -532379,8 +532475,8 @@ name: combined oxidative phosphorylation deficiency 36 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "combined oxidative phosphorylation deficiency 36" EXACT [OMIM:617950] -synonym: "COXPD36" RELATED ABBREVIATION [OMIM:617950] +synonym: "combined oxidative phosphorylation deficiency 36" EXACT [DOID:0111482, OMIM:617950] +synonym: "COXPD36" RELATED ABBREVIATION [] xref: DOID:0111482 {source="MONDO:equivalentTo"} xref: MEDGEN:1644927 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617950 {source="MONDO:equivalentTo"} @@ -532395,7 +532491,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HLD15" RELATED ABBREVIATION [OMIM:617951] +synonym: "HLD15" RELATED ABBREVIATION [] synonym: "leukodystrophy, hypomyelinating, 15" EXACT [OMIM:617951] xref: DOID:0070398 {source="MONDO:equivalentTo"} xref: MEDGEN:1633653 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532414,7 +532510,7 @@ subset: orphanet_rare {source="Orphanet:569290"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "MMDS6" EXACT ABBREVIATION [OMIM:617954] -synonym: "multiple mitochondrial dysfunctions syndrome 6" EXACT [OMIM:617954] +synonym: "multiple mitochondrial dysfunctions syndrome 6" EXACT [DOID:0070332, OMIM:617954] synonym: "multiple mitochondrial dysfunctions syndrome type 6" EXACT [Orphanet:569290] synonym: "PMPCB deficiency" EXACT [Orphanet:569290] xref: DOID:0070332 {source="MONDO:equivalentTo"} @@ -532433,7 +532529,7 @@ name: leukodystrophy, hypomyelinating, 16 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HLD16" RELATED ABBREVIATION [OMIM:617964] +synonym: "HLD16" RELATED ABBREVIATION [] synonym: "leukodystrophy, hypomyelinating, 16" EXACT [OMIM:617964] xref: DOID:0070405 {source="MONDO:equivalentTo"} xref: MEDGEN:1631337 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532449,10 +532545,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HYC3" RELATED ABBREVIATION [OMIM:617967] -synonym: "hydrocephalus, CONGENITAL, 3, with brain anomalies" RELATED [OMIM:617967] -synonym: "hydrocephalus, nonsyndromic, autosomal recessive 3" RELATED [OMIM:617967] -synonym: "hydrocephalus, nonsyndromic, autosomal recessive 3, formerly" RELATED [OMIM:617967] +synonym: "HYC3" RELATED ABBREVIATION [] +synonym: "hydrocephalus, CONGENITAL, 3, with brain anomalies" RELATED [] +synonym: "hydrocephalus, nonsyndromic, autosomal recessive 3" RELATED [] +synonym: "hydrocephalus, nonsyndromic, autosomal recessive 3, formerly" RELATED [] xref: MEDGEN:1648319 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617967 {source="MONDO:equivalentTo"} xref: UMLS:C4747885 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648319"} @@ -532468,11 +532564,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ECYT6" RELATED ABBREVIATION [OMIM:617980] -synonym: "erythrocytosis 6" EXACT [OMIM:617980, OMIM:genemap2] -synonym: "erythrocytosis, Beta-globin type" RELATED [OMIM:617980] -synonym: "erythrocytosis, FAMILIAL, 6" RELATED [OMIM:617980] -synonym: "polycythemia, Beta-globin type" RELATED [OMIM:617980] +synonym: "ECYT6" RELATED ABBREVIATION [] +synonym: "erythrocytosis 6" EXACT [] +synonym: "erythrocytosis, Beta-globin type" RELATED [] +synonym: "erythrocytosis, FAMILIAL, 6" RELATED [] +synonym: "polycythemia, Beta-globin type" RELATED [] xref: DOID:0111632 {source="MONDO:equivalentTo"} xref: MEDGEN:1634191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617980 {source="MONDO:equivalentTo"} @@ -532487,11 +532583,11 @@ name: erythrocytosis, familial, 7 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ECYT7" RELATED ABBREVIATION [OMIM:617981] -synonym: "erythrocytosis 7" EXACT [OMIM:617981, OMIM:genemap2] -synonym: "erythrocytosis, Alpha-globin type" RELATED [OMIM:617981] -synonym: "erythrocytosis, FAMILIAL, 7" RELATED [OMIM:617981] -synonym: "polycythemia, Alpha-globin type" RELATED [OMIM:617981] +synonym: "ECYT7" RELATED ABBREVIATION [] +synonym: "erythrocytosis 7" EXACT [] +synonym: "erythrocytosis, Alpha-globin type" RELATED [] +synonym: "erythrocytosis, FAMILIAL, 7" RELATED [] +synonym: "polycythemia, Alpha-globin type" RELATED [] xref: DOID:0111631 {source="MONDO:equivalentTo"} xref: MEDGEN:1642594 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617981 {source="MONDO:equivalentTo"} @@ -532505,8 +532601,8 @@ name: microcephaly 21, primary, autosomal recessive subset: gard_rare {source="GARD:16278", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH21" RELATED ABBREVIATION [OMIM:617983] -synonym: "microcephaly 21, PRIMARY, autosomal recessive" RELATED [OMIM:617983] +synonym: "MCPH21" RELATED ABBREVIATION [] +synonym: "microcephaly 21, PRIMARY, autosomal recessive" RELATED [] xref: GARD:16278 {source="MONDO:GARD"} xref: MEDGEN:1646916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617983 {source="MONDO:equivalentTo"} @@ -532520,8 +532616,8 @@ name: microcephaly 22, primary, autosomal recessive subset: gard_rare {source="GARD:16279", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH22" RELATED ABBREVIATION [OMIM:617984] -synonym: "microcephaly 22, PRIMARY, autosomal recessive" RELATED [OMIM:617984] +synonym: "MCPH22" RELATED ABBREVIATION [] +synonym: "microcephaly 22, PRIMARY, autosomal recessive" RELATED [] xref: GARD:16279 {source="MONDO:GARD"} xref: MEDGEN:1635688 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617984 {source="MONDO:equivalentTo"} @@ -532536,8 +532632,8 @@ name: microcephaly 23, primary, autosomal recessive subset: gard_rare {source="GARD:16280", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MCPH23" RELATED ABBREVIATION [OMIM:617985] -synonym: "microcephaly 23, PRIMARY, autosomal recessive" RELATED [OMIM:617985] +synonym: "MCPH23" RELATED ABBREVIATION [] +synonym: "microcephaly 23, PRIMARY, autosomal recessive" RELATED [] xref: GARD:16280 {source="MONDO:GARD"} xref: MEDGEN:1631589 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617985 {source="MONDO:equivalentTo"} @@ -532575,7 +532671,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HLD17" RELATED ABBREVIATION [OMIM:618006] +synonym: "HLD17" RELATED ABBREVIATION [] synonym: "leukodystrophy, hypomyelinating, 17" EXACT [OMIM:618006] xref: DOID:0070404 {source="MONDO:equivalentTo"} xref: MEDGEN:1644557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532591,8 +532687,8 @@ def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:16287", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "COFFIN-SIRIS syndrome 7" RELATED [OMIM:618027] -synonym: "CSS7" RELATED ABBREVIATION [OMIM:618027] +synonym: "COFFIN-SIRIS syndrome 7" RELATED [] +synonym: "CSS7" RELATED ABBREVIATION [] xref: DOID:0112369 {source="MONDO:equivalentTo"} xref: GARD:16287 {source="MONDO:GARD"} xref: MEDGEN:1648281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532608,8 +532704,8 @@ name: corneal dystrophy, posterior polymorphous, 4 subset: gard_rare {source="GARD:18215", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "corneal dystrophy, POSTERIOR polymorphous, 4" RELATED [OMIM:618031] -synonym: "PPCD4" RELATED ABBREVIATION [OMIM:618031] +synonym: "corneal dystrophy, POSTERIOR polymorphous, 4" RELATED [] +synonym: "PPCD4" RELATED ABBREVIATION [] xref: DOID:0080669 {source="MONDO:equivalentTo"} xref: GARD:18215 {source="MONDO:GARD"} xref: MEDGEN:1648359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532628,9 +532724,9 @@ subset: ordo_disorder {source="Orphanet:521414"} subset: orphanet_rare {source="Orphanet:521414"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Charcot-Marie-tooth disease, axonal, type 2DD" RELATED [OMIM:618036] -synonym: "Charcot-Marie-Tooth neuropathy, type 2Dd" RELATED [OMIM:618036] -synonym: "CMT2DD" RELATED ABBREVIATION [OMIM:618036] +synonym: "Charcot-Marie-tooth disease, axonal, type 2DD" RELATED [] +synonym: "Charcot-Marie-Tooth neuropathy, type 2Dd" RELATED [] +synonym: "CMT2DD" RELATED ABBREVIATION [] xref: DOID:0111558 {source="MONDO:equivalentTo"} xref: GARD:17959 {source="MONDO:GARD"} xref: MEDGEN:1648475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532652,11 +532748,11 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "classic DTDS" EXACT ABBREVIATION [GARD:0010484] -synonym: "dopamine transporter deficiency syndrome" RELATED [OMIM:613135] -synonym: "Parkinsonism-dystonia, infantile, 1" EXACT [OMIM:613135] -synonym: "PKDYS" BROAD ABBREVIATION [OMIM:613135] -synonym: "PKDYS1" EXACT ABBREVIATION [OMIM:613135] +synonym: "classic DTDS" EXACT ABBREVIATION [DOID:0070489, GARD:0010484] +synonym: "dopamine transporter deficiency syndrome" RELATED [] +synonym: "Parkinsonism-dystonia, infantile, 1" EXACT [] +synonym: "PKDYS" BROAD ABBREVIATION [] +synonym: "PKDYS1" EXACT ABBREVIATION [DOID:0070489, OMIM:613135] xref: DOID:0070489 {source="MONDO:equivalentTo"} xref: MEDGEN:1814585 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C129866 {source="MONDO:equivalentTo"} @@ -532684,10 +532780,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "intellectual developmental disorder, autosomal dominant 57" EXACT [OMIM:618050, OMIM:genemap2] -synonym: "intellectual disability, autosomal dominant 57" EXACT [OMIM:618050] -synonym: "mental retardation, autosomal dominant 57" RELATED DEPRECATED [OMIM:618050] -synonym: "MRD57" RELATED DEPRECATED [OMIM:618050] +synonym: "intellectual developmental disorder, autosomal dominant 57" EXACT [OMIM:618050] +synonym: "intellectual disability, autosomal dominant 57" EXACT [] +synonym: "mental retardation, autosomal dominant 57" RELATED DEPRECATED [] +synonym: "MRD57" RELATED DEPRECATED [] synonym: "TLK2-related neurodevelopmental disorder" EXACT [PMID:29861108, PMID:31558842, PMID:34821460] synonym: "TLK2-related syndrome" EXACT [PMID:29861108, PMID:31558842, PMID:34821460] xref: MEDGEN:1648280 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532704,8 +532800,8 @@ name: cardiomyopathy, familial hypertrophic 27 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cardiomyopathy, FAMILIAL hypertrophic 27" RELATED [OMIM:618052] -synonym: "CMH27" RELATED ABBREVIATION [OMIM:618052] +synonym: "cardiomyopathy, FAMILIAL hypertrophic 27" RELATED [] +synonym: "CMH27" RELATED ABBREVIATION [] xref: MEDGEN:1648325 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618052 {source="MONDO:equivalentTo"} xref: UMLS:C4748014 {source="MONDO:equivalentTo", source="MEDGEN:1648325", source="MONDO:MEDGEN"} @@ -532722,7 +532818,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DNAJB11 polycystic kidney disease" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "PKD6" RELATED ABBREVIATION [OMIM:618061] +synonym: "PKD6" RELATED ABBREVIATION [] synonym: "polycystic kidney disease 6 with or without polycystic liver disease" EXACT CLINGEN_LABEL [OMIM:618061] synonym: "polycystic kidney disease caused by mutation in DNAJB11" EXACT [] xref: DOID:0060951 {source="MONDO:equivalentTo"} @@ -532743,9 +532839,9 @@ subset: gard_rare {source="GARD:16288", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CILD38" RELATED ABBREVIATION [OMIM:618063] -synonym: "ciliary dyskinesia, PRIMARY, 38" RELATED [OMIM:618063] -synonym: "ciliary dyskinesia, Primary, 38, with or without situs inversus" RELATED [OMIM:618063] +synonym: "CILD38" RELATED ABBREVIATION [] +synonym: "ciliary dyskinesia, PRIMARY, 38" RELATED [] +synonym: "ciliary dyskinesia, Primary, 38, with or without situs inversus" RELATED [] xref: DOID:0111852 {source="MONDO:equivalentTo"} xref: GARD:16288 {source="MONDO:GARD"} xref: MEDGEN:1648465 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532761,7 +532857,7 @@ name: pontocerebellar hypoplasia, type 1D subset: gard_rare {source="GARD:16289", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PCH1D" RELATED ABBREVIATION [OMIM:618065] +synonym: "PCH1D" RELATED ABBREVIATION [] synonym: "pontocerebellar hypoplasia, type 1D" EXACT [OMIM:618065] xref: DOID:0112323 {source="MONDO:equivalentTo"} xref: GARD:16289 {source="MONDO:GARD"} @@ -532778,9 +532874,9 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "DEE66" EXACT ABBREVIATION [OMIM:618067] -synonym: "developmental and epileptic encephalopathy 66" EXACT [OMIM:618067, OMIM:genemap2] -synonym: "EIEE66" EXACT ABBREVIATION [OMIM:618067] +synonym: "DEE66" EXACT ABBREVIATION [DOID:0080446, OMIM:618067] +synonym: "developmental and epileptic encephalopathy 66" EXACT [DOID:0080446, OMIM:618067] +synonym: "EIEE66" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 66" EXACT [OMIM:618067] xref: DOID:0080446 {source="MONDO:equivalentTo"} xref: MEDGEN:1648486 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532796,10 +532892,10 @@ name: epilepsy, familial adult myoclonic, 6 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "benign Adult Familial myoclonic epilepsy 6" RELATED [OMIM:618074] -synonym: "cortical myoclonic tremor with epilepsy, Familial, 6" RELATED [OMIM:618074] -synonym: "epilepsy, FAMILIAL ADULT myoclonic, 6" RELATED [OMIM:618074] -synonym: "FAME6" RELATED ABBREVIATION [OMIM:618074] +synonym: "benign Adult Familial myoclonic epilepsy 6" RELATED [] +synonym: "cortical myoclonic tremor with epilepsy, Familial, 6" RELATED [] +synonym: "epilepsy, FAMILIAL ADULT myoclonic, 6" RELATED [] +synonym: "FAME6" RELATED ABBREVIATION [] xref: DOID:0111696 {source="MONDO:equivalentTo"} xref: MEDGEN:1648448 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618074 {source="MONDO:equivalentTo"} @@ -532812,10 +532908,10 @@ name: epilepsy, familial adult myoclonic, 7 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "benign Adult Familial myoclonic epilepsy 7" RELATED [OMIM:618075] -synonym: "cortical myoclonic tremor with epilepsy, Familial, 7" RELATED [OMIM:618075] -synonym: "epilepsy, FAMILIAL ADULT myoclonic, 7" RELATED [OMIM:618075] -synonym: "FAME7" RELATED ABBREVIATION [OMIM:618075] +synonym: "benign Adult Familial myoclonic epilepsy 7" RELATED [] +synonym: "cortical myoclonic tremor with epilepsy, Familial, 7" RELATED [] +synonym: "epilepsy, FAMILIAL ADULT myoclonic, 7" RELATED [] +synonym: "FAME7" RELATED ABBREVIATION [] xref: DOID:0111694 {source="MONDO:equivalentTo"} xref: MEDGEN:1648435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618075 {source="MONDO:equivalentTo"} @@ -532825,8 +532921,8 @@ is_a: MONDO:0000160 {source="DOID:0111694", source="OMIM:618075"} ! epilepsy, fa [Term] id: MONDO:0054849 name: inflammatory bowel disease 29 -synonym: "IBD29" RELATED ABBREVIATION [OMIM:618077] -synonym: "inflammatory bowel disease 29" EXACT [OMIM:618077] +synonym: "IBD29" RELATED ABBREVIATION [] +synonym: "inflammatory bowel disease 29" EXACT [DOID:0112155, OMIM:618077] xref: DOID:0112155 {source="MONDO:equivalentTo"} xref: MEDGEN:1648318 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618077 {source="MONDO:equivalentTo"} @@ -532839,8 +532935,8 @@ name: ovarian dysgenesis 6 subset: gard_rare {source="GARD:18042", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ODG6" RELATED ABBREVIATION [OMIM:618078] -synonym: "ovarian dysgenesis 6" EXACT [OMIM:618078] +synonym: "ODG6" RELATED ABBREVIATION [] +synonym: "ovarian dysgenesis 6" EXACT [DOID:0080498, OMIM:618078] xref: DOID:0080498 {source="MONDO:equivalentTo"} xref: GARD:18042 {source="MONDO:GARD"} xref: MEDGEN:1648307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532855,8 +532951,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "peeling skin syndrome 6" EXACT [OMIM:618084] -synonym: "PSS6" RELATED ABBREVIATION [OMIM:618084] +synonym: "peeling skin syndrome 6" EXACT [DOID:0070525, OMIM:618084] +synonym: "PSS6" RELATED ABBREVIATION [] xref: DOID:0070525 {source="MONDO:equivalentTo"} xref: MEDGEN:1648406 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618084 {source="MONDO:equivalentTo"} @@ -532871,8 +532967,8 @@ subset: gard_rare {source="GARD:18150", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "deafness, autosomal recessive 110" NARROW [OMIM:618094, OMIM:genemap2] -synonym: "DFNB110" NARROW ABBREVIATION [OMIM:618094] +synonym: "deafness, autosomal recessive 110" NARROW [] +synonym: "DFNB110" NARROW ABBREVIATION [] xref: DOID:0111644 {source="MONDO:equivalentTo"} xref: GARD:18150 {source="MONDO:GARD"} xref: MEDGEN:1648377 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532888,9 +532984,9 @@ name: intellectual disability, autosomal recessive 63 subset: gard_rare {source="GARD:16475", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "intellectual disability, autosomal recessive 63" EXACT [OMIM:618095] -synonym: "mental retardation, autosomal recessive 63" RELATED DEPRECATED [OMIM:618095] -synonym: "MRT63" RELATED DEPRECATED [OMIM:618095] +synonym: "intellectual disability, autosomal recessive 63" EXACT [] +synonym: "mental retardation, autosomal recessive 63" RELATED DEPRECATED [] +synonym: "MRT63" RELATED DEPRECATED [] xref: DOID:0081224 {source="MONDO:equivalentTo"} xref: GARD:16475 {source="MONDO:GARD"} xref: MEDGEN:1648348 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532904,7 +533000,7 @@ name: premature ovarian failure 15 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "POF15" RELATED ABBREVIATION [OMIM:618096] +synonym: "POF15" RELATED ABBREVIATION [] synonym: "premature ovarian failure 15" EXACT [OMIM:618096] xref: DOID:0080872 {source="MONDO:equivalentTo"} xref: MEDGEN:1648369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -532925,7 +533021,7 @@ subset: orphanet_rare {source="Orphanet:527276"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "encephalopathy due to defective mitochondrial and peroxisomal fission" EXACT [OMIMPS:614388] -synonym: "encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/] +synonym: "encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40049/, Orphanet:527276] xref: GARD:22192 {source="MONDO:GARD"} xref: MEDGEN:1814479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:614388 {source="MONDO:equivalentTo"} @@ -532992,10 +533088,10 @@ name: X-linked spermatogenic failure 1 def: "A cause of male infertility characterized by X-linked inheritance in which only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop) and there are not any sperm cells present in the seminiferous tubules." [GARD:0008406] subset: gard_rare {source="GARD:8406", source="MONDO:GARD"} subset: rare -synonym: "Del Castillo syndrome" EXACT [OMIM:305700] +synonym: "Del Castillo syndrome" EXACT [NCIT:C168988, OMIM:305700] synonym: "Germinal cell aplasia" EXACT [OMIM:305700] -synonym: "Sertoli cell-only syndrome" EXACT [MONDO:0010595, OMIM:305700] -synonym: "spermatogenic failure, X-linked, type 1" EXACT [MONDO:Lexical, MONDORULE:1, OMIM:305700] +synonym: "Sertoli cell-only syndrome" EXACT [MONDO:0010595, NCIT:C168988, OMIM:305700] +synonym: "spermatogenic failure, X-linked, type 1" EXACT [MONDO:Lexical, MONDORULE:1] synonym: "SPGFX1" EXACT ABBREVIATION [DOID:0070189, MONDO:Lexical, OMIM:305700] xref: DOID:0050457 {source="MONDO:mondoIsNarrowerThanSource"} xref: DOID:0070189 {source="MONDO:equivalentTo"} @@ -533016,7 +533112,7 @@ id: MONDO:0056796 name: obstructive nephropathy def: "Renal damage and impaired renal function secondary to urinary tract obstruction." [] synonym: "congenital obstructive nephropathy" EXACT [DOID:0070314] -synonym: "obstructive nephropathy" EXACT [] +synonym: "obstructive nephropathy" EXACT [DOID:0070314, icd11.foundation:848128884, NCIT:C120902] xref: DOID:0070314 {source="MONDO:equivalentTo"} xref: icd11.foundation:848128884 {source="MONDO:equivalentTo"} xref: ICD9:593.89 @@ -533031,7 +533127,7 @@ id: MONDO:0056797 name: neurodevelopmental disorder with midbrain and hindbrain malformations subset: otar {source="MONDO:OTAR"} synonym: "NEDMHM" EXACT ABBREVIATION [DOID:0080312, OMIM:617523] -synonym: "neurodevelopmental disorder with midbrain and hindbrain malformations" EXACT [OMIM:617523] +synonym: "neurodevelopmental disorder with midbrain and hindbrain malformations" EXACT [DOID:0080312, OMIM:617523] xref: DOID:0080312 {source="MONDO:equivalentTo"} xref: MEDGEN:1385580 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617523 {source="DOID:0080312", source="MONDO:equivalentTo"} @@ -533048,7 +533144,7 @@ name: disorder of appendix def: "A disease or disorder that involves the vermiform appendix." [MONDO:patterns/location] subset: otar {source="MONDO:OTAR"} synonym: "appendiceal disease" EXACT [] -synonym: "appendix disease" EXACT [] +synonym: "appendix disease" EXACT [DOID:60000] synonym: "disease of appendix" EXACT [] synonym: "disease of vermiform appendix" EXACT [MONDO:patterns/location_top] synonym: "disease or disorder of vermiform appendix" EXACT [] @@ -533281,7 +533377,7 @@ comment: Editor note: TODO add uberon term subset: otar {source="MONDO:OTAR"} synonym: "nasal cavity and paranasal sinus cancer" EXACT [NCIT:C54293] synonym: "nasal cavity and paranasal sinus carcinoma" EXACT [NCIT:C54293] -synonym: "paranasal sinus and nasal cavity cancer" EXACT [NCIT:C54293] +synonym: "paranasal sinus and nasal cavity cancer" EXACT [] synonym: "sinonasal carcinoma" EXACT [NCIT:C54293] xref: MEDGEN:328032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C54293 {source="MONDO:equivalentTo"} @@ -533313,7 +533409,7 @@ replaced_by: MONDO:0015264 id: MONDO:0056822 name: amyotonia congenita synonym: "amyotonia congenita" EXACT [OMIM:205000] -synonym: "Oppenheim disease" RELATED [OMIM:205000] +synonym: "Oppenheim disease" RELATED [] xref: MEDGEN:8042 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:205000 {source="MONDO:equivalentTo"} xref: UMLS:C0002735 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:8042"} @@ -533325,8 +533421,8 @@ name: X-linked congenital hemolytic anemia subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hemolytic anemia, congenital, X-linked" RELATED [OMIM:301015] -synonym: "hemolytic anemia, congenital, X-linked, X-linked recessive" EXACT [OMIM:301015, OMIM:genemap2] +synonym: "hemolytic anemia, congenital, X-linked" RELATED [] +synonym: "hemolytic anemia, congenital, X-linked, X-linked recessive" EXACT [] xref: DOID:0111846 {source="MONDO:equivalentTo"} xref: MEDGEN:1648376 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:301015 {source="MONDO:equivalentTo"} @@ -533351,8 +533447,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0060457 name: autoinflammation with arthritis and dyskeratosis subset: otar {source="MONDO:OTAR"} -synonym: "AIADK" RELATED ABBREVIATION [OMIM:617388] -synonym: "AUTOINFLAMMATION with arthritis and dyskeratosis" RELATED [OMIM:617388] +synonym: "AIADK" RELATED ABBREVIATION [] +synonym: "AUTOINFLAMMATION with arthritis and dyskeratosis" RELATED [] xref: MEDGEN:1380109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617388 {source="MONDO:equivalentTo"} xref: UMLS:C4479278 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1380109"} @@ -533365,7 +533461,7 @@ name: arthrogryposis multiplex congenita 1, neurogenic, with myelin defect subset: gard_rare {source="GARD:18566", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AMCNMY" RELATED ABBREVIATION [OMIM:617468] +synonym: "AMCNMY" RELATED ABBREVIATION [] synonym: "arthrogryposis multiplex congenita, neurogenic, with myelin defect" EXACT [OMIM:617468] xref: DOID:0080978 {source="MONDO:equivalentTo"} xref: GARD:18566 {source="MONDO:GARD"} @@ -533385,10 +533481,10 @@ name: 46,XX sex reversal 4 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "46, XX sex reversal 4" EXACT [OMIM:617480, OMIM:genemap2] -synonym: "46,XX SEX reversal 4" RELATED [OMIM:617480] -synonym: "46,XX Sex reversal, Sry-Negative" RELATED [OMIM:617480] -synonym: "SRXX4" RELATED ABBREVIATION [OMIM:617480] +synonym: "46, XX sex reversal 4" EXACT [] +synonym: "46,XX SEX reversal 4" RELATED [] +synonym: "46,XX Sex reversal, Sry-Negative" RELATED [] +synonym: "SRXX4" RELATED ABBREVIATION [] xref: DOID:0111764 {source="MONDO:equivalentTo"} xref: MEDGEN:1373282 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617480 {source="MONDO:equivalentTo"} @@ -533407,7 +533503,7 @@ subset: orphanet_rare {source="Orphanet:544469"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" EXACT [OMIM:617481] -synonym: "NMIHBA" RELATED ABBREVIATION [OMIM:617481] +synonym: "NMIHBA" RELATED ABBREVIATION [] xref: GARD:17985 {source="MONDO:GARD"} xref: ICD10CM:Q07.8 {source="Orphanet:544469", source="MONDO:mondoSubClassOfSource"} xref: MEDGEN:1380860 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533426,8 +533522,8 @@ comment: Editor note: todo - check orphanet xref subset: gard_rare {source="GARD:16232", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NEDIM" RELATED ABBREVIATION [OMIM:617493] -synonym: "neurodevelopmental disorder with involuntary movements" EXACT [OMIM:617493] +synonym: "NEDIM" RELATED ABBREVIATION [] +synonym: "neurodevelopmental disorder with involuntary movements" EXACT [DOID:0112276, OMIM:617493] xref: DOID:0112276 {source="MONDO:equivalentTo"} xref: GARD:16232 {source="MONDO:GARD"} xref: MEDGEN:1374697 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533443,8 +533539,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060496 name: neurodevelopmental disorder with hypotonia, neuropathy, and deafness subset: clingen {source="MONDO:CLINGEN"} -synonym: "myopathy, Congenital, with neuropathy and Deafness" RELATED [OMIM:617519] -synonym: "NEDHND" RELATED ABBREVIATION [OMIM:617519] +synonym: "myopathy, Congenital, with neuropathy and Deafness" RELATED [] +synonym: "NEDHND" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder with hypotonia, neuropathy, and deafness" EXACT [OMIM:617519] xref: MEDGEN:1382171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617519 {source="MONDO:equivalentTo"} @@ -533465,7 +533561,7 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:521426"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NDMSBA" RELATED ABBREVIATION [OMIM:617527] +synonym: "NDMSBA" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies" EXACT [OMIM:617527] xref: GARD:17960 {source="MONDO:GARD"} xref: MEDGEN:1380260 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533486,8 +533582,8 @@ subset: ordo_disorder {source="Orphanet:653709"} subset: orphanet_rare {source="Orphanet:653709"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "RDMS" RELATED ABBREVIATION [OMIM:617547] -synonym: "retinal dystrophy with macular staphyloma" EXACT [OMIM:617547, OMIM:genemap2] +synonym: "RDMS" RELATED ABBREVIATION [] +synonym: "retinal dystrophy with macular staphyloma" EXACT [] synonym: "retinal dystrophy with or without macular staphyloma" EXACT [OMIM:617547] xref: MEDGEN:1381980 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617547 {source="MONDO:equivalentTo"} @@ -533506,8 +533602,8 @@ subset: ordo_disorder {source="Orphanet:659396"} subset: orphanet_rare {source="Orphanet:659396"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "COGIS" RELATED ABBREVIATION [OMIM:617561] -synonym: "Cohen-Gibson syndrome" EXACT [OMIM:617561] +synonym: "COGIS" RELATED ABBREVIATION [] +synonym: "Cohen-Gibson syndrome" EXACT [OMIM:617561, Orphanet:659396] xref: GARD:16235 {source="MONDO:GARD"} xref: MEDGEN:1386939 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617561 {source="MONDO:equivalentTo"} @@ -533522,11 +533618,11 @@ id: MONDO:0060527 name: maleylacetoacetate isomerase deficiency subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "benign hypersuccinylacetonemia" RELATED [OMIM:617596] -synonym: "hypersuccinylacetonemia, mild" RELATED [OMIM:617596] -synonym: "MAAI deficiency" RELATED [OMIM:617596] -synonym: "MAAID" RELATED ABBREVIATION [OMIM:617596] -synonym: "maleylacetoacetate isomerase deficiency" EXACT CLINGEN_LABEL [OMIM:617596, OMIM:genemap2] +synonym: "benign hypersuccinylacetonemia" RELATED [] +synonym: "hypersuccinylacetonemia, mild" RELATED [] +synonym: "MAAI deficiency" RELATED [] +synonym: "MAAID" RELATED ABBREVIATION [] +synonym: "maleylacetoacetate isomerase deficiency" EXACT CLINGEN_LABEL [OMIM:617596] xref: MEDGEN:713903 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617596 {source="MONDO:equivalentTo"} xref: UMLS:C1291607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:713903"} @@ -533542,7 +533638,7 @@ subset: ordo_disorder {source="Orphanet:643503"} subset: orphanet_rare {source="Orphanet:643503"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CHDSKM" RELATED ABBREVIATION [OMIM:617602] +synonym: "CHDSKM" RELATED ABBREVIATION [] synonym: "congenital heart defects and skeletal malformations syndrome" EXACT [OMIM:617602] synonym: "marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome" EXACT [Orphanet:643503] xref: MEDGEN:1618340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533560,8 +533656,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:572773"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "microcephaly, short stature, and limb abnormalities" EXACT [OMIM:617604] -synonym: "MISSLA" RELATED ABBREVIATION [OMIM:617604] +synonym: "microcephaly, short stature, and limb abnormalities" EXACT [DOID:0081431, OMIM:617604] +synonym: "MISSLA" RELATED ABBREVIATION [] xref: DOID:0081431 {source="MONDO:equivalentTo"} xref: GARD:18655 {source="MONDO:GARD"} xref: MEDGEN:1613834 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533580,8 +533676,8 @@ subset: ordo_disorder {source="Orphanet:656130"} subset: orphanet_rare {source="Orphanet:656130"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CAKUTHED" RELATED ABBREVIATION [OMIM:617641] -synonym: "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" EXACT [OMIM:617641] +synonym: "CAKUTHED" RELATED ABBREVIATION [] +synonym: "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" EXACT [DOID:0112359, OMIM:617641] xref: DOID:0112359 {source="MONDO:equivalentTo"} xref: MEDGEN:1612119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617641 {source="MONDO:equivalentTo"} @@ -533597,8 +533693,8 @@ name: polydactyly, postaxial, type a7 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "PAPA7" RELATED ABBREVIATION [OMIM:617642] -synonym: "polydactyly, postaxial, type A7" RELATED [OMIM:617642] +synonym: "PAPA7" RELATED ABBREVIATION [] +synonym: "polydactyly, postaxial, type A7" RELATED [] xref: MEDGEN:1627079 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617642 {source="MONDO:equivalentTo"} xref: UMLS:C4539976 {source="MEDGEN:1627079", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533610,7 +533706,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0060551 name: cerebellar atrophy, developmental delay, and seizures subset: otar {source="MONDO:OTAR"} -synonym: "CADEDS" RELATED ABBREVIATION [OMIM:617643] +synonym: "CADEDS" RELATED ABBREVIATION [] synonym: "cerebellar atrophy, developmental delay, and seizures" EXACT [OMIM:617643] xref: MEDGEN:1626119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617643 {source="MONDO:equivalentTo"} @@ -533626,9 +533722,9 @@ subset: gard_rare {source="GARD:18508", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "3-hydroxyanthranilic acidemia" RELATED [OMIM:617660] -synonym: "congenital NAD deficiency Disorder 1" RELATED [OMIM:617660] -synonym: "VCRL1" RELATED ABBREVIATION [OMIM:617660] +synonym: "3-hydroxyanthranilic acidemia" RELATED [] +synonym: "congenital NAD deficiency Disorder 1" RELATED [] +synonym: "VCRL1" RELATED ABBREVIATION [] synonym: "vertebral, cardiac, renal, and limb defects syndrome 1" EXACT CLINGEN_LABEL [OMIM:617660] xref: GARD:18508 {source="MONDO:GARD"} xref: MEDGEN:1621146 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533651,9 +533747,9 @@ subset: gard_rare {source="GARD:18509", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "congenital NAD deficiency disorder 2" RELATED [OMIM:617661] -synonym: "kynureninase deficiency, complete" RELATED [OMIM:617661] -synonym: "VCRL2" RELATED ABBREVIATION [OMIM:617661] +synonym: "congenital NAD deficiency disorder 2" RELATED [] +synonym: "kynureninase deficiency, complete" RELATED [] +synonym: "VCRL2" RELATED ABBREVIATION [] synonym: "vertebral, cardiac, renal, and limb defects syndrome 2" EXACT CLINGEN_LABEL [OMIM:617661] xref: GARD:18509 {source="MONDO:GARD"} xref: MEDGEN:1624065 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533677,7 +533773,7 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:527450"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "JLSM" RELATED ABBREVIATION [OMIM:617662] +synonym: "JLSM" RELATED ABBREVIATION [] synonym: "joint laxity, short stature, and myopia" EXACT [OMIM:617662] xref: GARD:17963 {source="MONDO:GARD"} xref: MEDGEN:1621331 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533697,8 +533793,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060562 name: encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities synonym: "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" EXACT [OMIM:617668] -synonym: "lipoyltransferase 2 deficiency" RELATED [OMIM:617668] -synonym: "NELABA" RELATED ABBREVIATION [OMIM:617668] +synonym: "lipoyltransferase 2 deficiency" RELATED [] +synonym: "NELABA" RELATED ABBREVIATION [] xref: MEDGEN:1624694 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617668 {source="MONDO:equivalentTo"} xref: UMLS:C4540052 {source="MEDGEN:1624694", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533717,8 +533813,8 @@ subset: orphanet_rare {source="Orphanet:528105"} subset: rare synonym: "HELIX" EXACT ABBREVIATION [OMIM:617671] synonym: "HELIX syndrome" EXACT [OMIM:617671, Orphanet:528105] -synonym: "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" RELATED [OMIM:617671] -synonym: "hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome" EXACT [MONDO:0033939] +synonym: "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" RELATED [] +synonym: "hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome" EXACT [MONDO:0033939, Orphanet:528105] xref: GARD:17967 {source="MONDO:GARD"} xref: MEDGEN:1621482 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617671 {source="MONDO:equivalentTo"} @@ -533739,9 +533835,9 @@ subset: ordo_disorder {source="Orphanet:529965"} subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:529965"} subset: rare -synonym: "developmental delay and speech apraxia with or without seizures" RELATED [OMIM:617682] -synonym: "Pilarowski-Bjornsson syndrome" EXACT [OMIM:617682] -synonym: "PILBOS" RELATED ABBREVIATION [OMIM:617682] +synonym: "developmental delay and speech apraxia with or without seizures" RELATED [] +synonym: "Pilarowski-Bjornsson syndrome" EXACT [OMIM:617682, Orphanet:529965] +synonym: "PILBOS" RELATED ABBREVIATION [] xref: GARD:17970 {source="MONDO:GARD"} xref: MEDGEN:1619150 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617682 {source="MONDO:equivalentTo", source="Orphanet:529965"} @@ -533759,7 +533855,7 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:22576", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NEDMAS" RELATED ABBREVIATION [OMIM:617709] +synonym: "NEDMAS" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder with microcephaly, ataxia, and seizures" EXACT [OMIM:617709] xref: GARD:22576 {source="MONDO:GARD"} xref: MEDGEN:1613354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533781,7 +533877,7 @@ subset: orphanet_rare {source="Orphanet:572798"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "mitochondrial tryptophanyl-tRNA synthetase deficiency" EXACT [Orphanet:572798] -synonym: "NEMMLAS" RELATED ABBREVIATION [OMIM:617710] +synonym: "NEMMLAS" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" EXACT [OMIM:617710] synonym: "WARS2 deficiency" BROAD [PMID:37824696] synonym: "WARS2-related disorder" BROAD [PMID:37107582] @@ -533803,8 +533899,8 @@ subset: ordo_disorder {source="Orphanet:542585"} subset: orphanet_rare {source="Orphanet:542585"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ANOA" RELATED ABBREVIATION [OMIM:617717] -synonym: "auditory neuropathy and optic atrophy" RELATED [OMIM:617717] +synonym: "ANOA" RELATED ABBREVIATION [] +synonym: "auditory neuropathy and optic atrophy" RELATED [] xref: GARD:17983 {source="MONDO:GARD"} xref: MEDGEN:1623572 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617717 {source="Orphanet:542585", source="MONDO:equivalentTo"} @@ -533820,9 +533916,9 @@ id: MONDO:0060583 name: platelet abnormalities with eosinophilia and immune-mediated inflammatory disease subset: clingen {source="MONDO:CLINGEN"} subset: otar {source="MONDO:OTAR"} -synonym: "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia" EXACT [OMIM:617718, OMIM:genemap2] -synonym: "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" EXACT CLINGEN_LABEL [OMIM:617718] -synonym: "PLTEID" RELATED ABBREVIATION [OMIM:617718] +synonym: "immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia" EXACT [DOID:0112004, OMIM:617718] +synonym: "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" EXACT CLINGEN_LABEL [DOID:0112004, OMIM:617718] +synonym: "PLTEID" RELATED ABBREVIATION [] xref: DOID:0112004 {source="MONDO:equivalentTo"} xref: MEDGEN:1618052 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617718 {source="MONDO:equivalentTo"} @@ -533838,9 +533934,9 @@ name: neuronopathy, distal hereditary motor, type 9 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "HMN9" RELATED ABBREVIATION [OMIM:617721] -synonym: "neuronopathy, distal hereditary motor, type IX" RELATED [OMIM:617721] -synonym: "neuropathy, distal hereditary motor, type 9" RELATED [OMIM:617721] +synonym: "HMN9" RELATED ABBREVIATION [] +synonym: "neuronopathy, distal hereditary motor, type IX" RELATED [] +synonym: "neuropathy, distal hereditary motor, type 9" RELATED [] xref: DOID:0111212 {source="MONDO:equivalentTo"} xref: MEDGEN:1617571 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617721 {source="MONDO:equivalentTo"} @@ -533853,8 +533949,8 @@ id: MONDO:0060589 name: facial palsy, congenital, with ptosis and velopharyngeal dysfunction subset: otar {source="MONDO:OTAR"} synonym: "facial palsy, congenital, with ptosis and velopharyngeal dysfunction" EXACT [OMIM:617732] -synonym: "facial palsy, congenitla, with ptosis and velopharyngeal dysfunction" EXACT [OMIM:617732, OMIM:genemap2] -synonym: "FPVEPD" RELATED ABBREVIATION [OMIM:617732] +synonym: "facial palsy, congenitla, with ptosis and velopharyngeal dysfunction" EXACT [] +synonym: "FPVEPD" RELATED ABBREVIATION [] xref: MEDGEN:1623077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617732 {source="MONDO:equivalentTo"} xref: UMLS:C4540277 {source="MEDGEN:1623077", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533867,7 +533963,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060591 name: immunodeficiency, developmental delay, and hypohomocysteinemia subset: otar {source="MONDO:OTAR"} -synonym: "IMDDHH" RELATED ABBREVIATION [OMIM:617744] +synonym: "IMDDHH" RELATED ABBREVIATION [] synonym: "immunodeficiency, developmental delay, and hypohomocysteinemia" EXACT [OMIM:617744] xref: MEDGEN:1616061 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617744 {source="MONDO:equivalentTo"} @@ -533879,8 +533975,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0060592 name: Sweeney-Cox syndrome subset: clingen {source="MONDO:CLINGEN"} -synonym: "SWCOS" RELATED ABBREVIATION [OMIM:617746] -synonym: "Sweeney-Cox syndrome" EXACT CLINGEN_LABEL [OMIM:617746] +synonym: "SWCOS" RELATED ABBREVIATION [] +synonym: "Sweeney-Cox syndrome" EXACT CLINGEN_LABEL [DOID:0080538, OMIM:617746] xref: DOID:0080538 {source="MONDO:equivalentTo"} xref: MEDGEN:1625659 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617746 {source="MONDO:equivalentTo"} @@ -533894,9 +533990,9 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0060593 name: obsolete actn3 deficiency comment: Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none -synonym: "ACTN3 deficiency" EXACT [OMIM:617749] -synonym: "alpha-actinin-3 deficiency" EXACT [OMIM:617749, OMIM:genemap2] -synonym: "sprinting performance" EXACT [OMIM:617749, OMIM:genemap2] +synonym: "ACTN3 deficiency" EXACT [] +synonym: "alpha-actinin-3 deficiency" EXACT [] +synonym: "sprinting performance" EXACT [] xref: OMIM:617749 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/3637" xsd:anyURI @@ -533910,8 +534006,8 @@ subset: gard_rare {source="GARD:18513", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NEDDFL" RELATED ABBREVIATION [OMIM:617755] -synonym: "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" EXACT [OMIM:617755] +synonym: "NEDDFL" RELATED ABBREVIATION [] +synonym: "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" EXACT [DOID:0070514, OMIM:617755] xref: DOID:0070514 {source="MONDO:equivalentTo"} xref: GARD:18513 {source="MONDO:GARD"} xref: MEDGEN:1627464 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533932,9 +534028,9 @@ subset: ordo_disorder {source="Orphanet:658813"} subset: orphanet_rare {source="Orphanet:658813"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CIMAH" RELATED ABBREVIATION [OMIM:617780] +synonym: "CIMAH" RELATED ABBREVIATION [] synonym: "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" EXACT [OMIM:617780] -synonym: "methylenetetrahydrofolate dehydrogenase 1 deficiency" RELATED [OMIM:617780] +synonym: "methylenetetrahydrofolate dehydrogenase 1 deficiency" RELATED [] xref: MEDGEN:1615364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617780 {source="MONDO:equivalentTo"} xref: Orphanet:658813 {source="MONDO:equivalentTo"} @@ -533946,7 +534042,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0060621 name: neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy subset: otar {source="MONDO:OTAR"} -synonym: "NDMSCA" RELATED ABBREVIATION [OMIM:617802] +synonym: "NDMSCA" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" EXACT [OMIM:617802] xref: EFO:0009644 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1615361 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -533967,9 +534063,9 @@ subset: orphanet_rare {source="Orphanet:647788"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DHX30-related complex neurodevelopmental disorder" EXACT CLINGEN_LABEL [] -synonym: "NEDMIAL" RELATED ABBREVIATION [OMIM:617804] +synonym: "NEDMIAL" RELATED ABBREVIATION [] synonym: "neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" EXACT [Orphanet:647788] -synonym: "neurodevelopmental disorder with severe motor impairment and absent language" EXACT [OMIM:617804] +synonym: "neurodevelopmental disorder with severe motor impairment and absent language" EXACT [] xref: GARD:13608 {source="MONDO:GARD"} xref: MEDGEN:1622162 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617804 {source="MONDO:equivalentTo"} @@ -533986,8 +534082,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060624 name: neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter subset: otar {source="MONDO:OTAR"} -synonym: "NDAGSCW" RELATED ABBREVIATION [OMIM:617807] -synonym: "neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter" RELATED [OMIM:617807] +synonym: "NDAGSCW" RELATED ABBREVIATION [] +synonym: "neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter" RELATED [] xref: MEDGEN:1621102 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617807 {source="MONDO:equivalentTo"} xref: UMLS:C4540498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1621102"} @@ -534008,9 +534104,9 @@ subset: ordo_malformation_syndrome subset: orphanet_rare {source="Orphanet:529665"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "developmental delay, epilepsy, cerebellar atrophy, and osteopenia" RELATED [OMIM:617810] +synonym: "developmental delay, epilepsy, cerebellar atrophy, and osteopenia" RELATED [] synonym: "glycosylphosphatidylinositol biosynthesis defect 15" EXACT [OMIM:617810] -synonym: "GPIBD15" RELATED ABBREVIATION [OMIM:617810] +synonym: "GPIBD15" RELATED ABBREVIATION [] xref: GARD:17969 {source="MONDO:GARD"} xref: MEDGEN:1615160 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617810 {source="MONDO:equivalentTo", source="Orphanet:529665"} @@ -534029,7 +534125,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0060629 name: neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive subset: otar {source="MONDO:OTAR"} -synonym: "NDHMSR" RELATED ABBREVIATION [OMIM:617820] +synonym: "NDHMSR" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" EXACT [OMIM:617820] xref: EFO:0009300 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: MEDGEN:1646665 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534049,8 +534145,8 @@ subset: ordo_disorder {source="Orphanet:610569"} subset: orphanet_rare {source="Orphanet:610569"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ALKKUCS" RELATED ABBREVIATION [OMIM:617822] -synonym: "Alkuraya-Kucinskas syndrome" EXACT [OMIM:617822] +synonym: "ALKKUCS" RELATED ABBREVIATION [] +synonym: "Alkuraya-Kucinskas syndrome" EXACT [DOID:0111555, OMIM:617822, Orphanet:610569] xref: DOID:0111555 {source="MONDO:equivalentTo"} xref: GARD:18022 {source="MONDO:GARD"} xref: MEDGEN:1634304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534064,8 +534160,8 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0060640 name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy subset: otar {source="MONDO:OTAR"} -synonym: "NEDMEBA" RELATED ABBREVIATION [OMIM:617862] -synonym: "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" EXACT [OMIM:617862] +synonym: "NEDMEBA" RELATED ABBREVIATION [] +synonym: "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" EXACT [DOID:0060934, OMIM:617862] xref: DOID:0060934 {source="MONDO:equivalentTo"} xref: MEDGEN:1637443 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617862 {source="MONDO:equivalentTo"} @@ -534079,7 +534175,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060641 name: neurodevelopmental disorder with or without seizures and gait abnormalities subset: otar {source="MONDO:OTAR"} -synonym: "NEDSGA" RELATED ABBREVIATION [OMIM:617864] +synonym: "NEDSGA" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder with or without seizures and gait abnormalities" EXACT [OMIM:617864] xref: MEDGEN:1645968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617864 {source="MONDO:equivalentTo"} @@ -534093,7 +534189,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060642 name: neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features subset: otar {source="MONDO:OTAR"} -synonym: "NEDMAGA" RELATED ABBREVIATION [OMIM:617865] +synonym: "NEDMAGA" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features" EXACT [OMIM:617865] xref: MEDGEN:1647077 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617865 {source="MONDO:equivalentTo"} @@ -534120,8 +534216,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "LCAEOD" RELATED ABBREVIATION [OMIM:617879] -synonym: "Leber congenital amaurosis with early-onset deafness" EXACT CLINGEN_LABEL [OMIM:617879] +synonym: "LCAEOD" RELATED ABBREVIATION [] +synonym: "Leber congenital amaurosis with early-onset deafness" EXACT CLINGEN_LABEL [DOID:0112240, OMIM:617879] xref: DOID:0112240 {source="MONDO:equivalentTo"} xref: MEDGEN:1646810 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617879 {source="MONDO:equivalentTo"} @@ -534137,7 +534233,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060659 name: neurodevelopmental disorder with poor language and loss of hand skills -synonym: "NDPLHS" RELATED ABBREVIATION [OMIM:617903] +synonym: "NDPLHS" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder with poor language and loss of hand skills" EXACT [OMIM:617903] xref: MEDGEN:1637031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617903 {source="MONDO:equivalentTo"} @@ -534151,7 +534247,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0060662 name: Diamond-Blackfan anemia-like -synonym: "DBAL" RELATED ABBREVIATION [OMIM:617911] +synonym: "DBAL" RELATED ABBREVIATION [] synonym: "Diamond-Blackfan anemia-like" EXACT [OMIM:617911] xref: MEDGEN:1633207 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617911 {source="MONDO:equivalentTo"} @@ -534163,8 +534259,8 @@ relationship: disease_shares_features_of MONDO:0015253 ! Diamond-Blackfan anemia id: MONDO:0060663 name: congenital heart defects, multiple types, 5 subset: otar {source="MONDO:OTAR"} -synonym: "CHTD5" RELATED ABBREVIATION [OMIM:617912] -synonym: "CONGENITAL heart defects, multiple types, 5" RELATED [OMIM:617912] +synonym: "CHTD5" RELATED ABBREVIATION [] +synonym: "CONGENITAL heart defects, multiple types, 5" RELATED [] xref: MEDGEN:1636547 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617912 {source="MONDO:equivalentTo"} xref: UMLS:C4693563 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1636547"} @@ -534181,8 +534277,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060664 name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities subset: otar {source="MONDO:OTAR"} -synonym: "NEDMCR" RELATED ABBREVIATION [OMIM:617913] -synonym: "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities" EXACT [OMIM:617913] +synonym: "NEDMCR" RELATED ABBREVIATION [] +synonym: "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities" EXACT [DOID:0081263, OMIM:617913] xref: DOID:0081263 {source="MONDO:equivalentTo"} xref: MEDGEN:1634867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617913 {source="MONDO:equivalentTo"} @@ -534196,7 +534292,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060666 name: hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome subset: otar {source="MONDO:OTAR"} -synonym: "HADDTS" RELATED ABBREVIATION [OMIM:617915] +synonym: "HADDTS" RELATED ABBREVIATION [] synonym: "hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" EXACT [OMIM:617915] xref: MEDGEN:1647427 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617915 {source="MONDO:equivalentTo"} @@ -534209,7 +534305,7 @@ id: MONDO:0060670 name: amyotrophic lateral sclerosis, susceptibility to, 25 subset: clingen {source="MONDO:CLINGEN"} subset: predisposition -synonym: "ALS25" RELATED ABBREVIATION [OMIM:617921] +synonym: "ALS25" RELATED ABBREVIATION [] synonym: "amyotrophic lateral sclerosis, susceptibility to, 25" EXACT [OMIM:617921] xref: DOID:0081379 {source="MONDO:equivalentTo"} xref: MEDGEN:1633917 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534226,7 +534322,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060671 name: epilepsy, juvenile myoclonic, susceptibility to, 10 subset: predisposition -synonym: "EJM10" RELATED ABBREVIATION [OMIM:617924] +synonym: "EJM10" RELATED ABBREVIATION [] synonym: "epilepsy, juvenile myoclonic, susceptibility to, 10" EXACT [OMIM:617924] xref: DOID:0111325 {source="MONDO:equivalentTo"} xref: MEDGEN:1647781 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534257,7 +534353,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060688 name: hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency synonym: "hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency" EXACT [OMIM:617953] -synonym: "hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4" RELATED [OMIM:617953] +synonym: "hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4" RELATED [] xref: MEDGEN:326643 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617953 {source="MONDO:equivalentTo"} xref: UMLS:C1840059 {source="MEDGEN:326643", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534266,9 +534362,9 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar [Term] id: MONDO:0060690 name: phenytoin toxicity -synonym: "arene oxide detoxification defect" RELATED [OMIM:617955] -synonym: "diphenylhydantoin, defect in hydroxylation of" RELATED [OMIM:617955] -synonym: "fetal hydantoin syndrome" RELATED [OMIM:617955] +synonym: "arene oxide detoxification defect" RELATED [] +synonym: "diphenylhydantoin, defect in hydroxylation of" RELATED [] +synonym: "fetal hydantoin syndrome" RELATED [] synonym: "foetal hydantoin syndrome" RELATED OMO:0003005 [] synonym: "phenytoin toxicity" EXACT [OMIM:617955] xref: MEDGEN:101775 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534285,8 +534381,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SEMDDR" RELATED ABBREVIATION [OMIM:617974] -synonym: "spondyloepimetaphyseal dysplasia, Di Rocco type" RELATED [OMIM:617974] +synonym: "SEMDDR" RELATED ABBREVIATION [] +synonym: "spondyloepimetaphyseal dysplasia, Di Rocco type" RELATED [] xref: MEDGEN:1646454 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617974 {source="MONDO:equivalentTo"} xref: UMLS:C4693799 {source="MEDGEN:1646454", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534299,8 +534395,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060704 name: neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures subset: otar {source="MONDO:OTAR"} -synonym: "Elhattab-Alkuraya syndrome" RELATED [OMIM:617977] -synonym: "NEDSBAS" RELATED ABBREVIATION [OMIM:617977] +synonym: "Elhattab-Alkuraya syndrome" RELATED [] +synonym: "NEDSBAS" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" EXACT [OMIM:617977] xref: MEDGEN:1633724 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617977 {source="MONDO:equivalentTo"} @@ -534319,7 +534415,7 @@ subset: ordo_disorder {source="Orphanet:580940"} subset: orphanet_rare {source="Orphanet:580940"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "VERBRAS" RELATED ABBREVIATION [OMIM:617982] +synonym: "VERBRAS" RELATED ABBREVIATION [] synonym: "Ververi-Brady syndrome" EXACT [OMIM:617982] xref: GARD:18015 {source="MONDO:GARD"} xref: MEDGEN:1647785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534334,7 +534430,7 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0060711 name: Jaberi-Elahi syndrome subset: otar {source="MONDO:OTAR"} -synonym: "JABELS" RELATED ABBREVIATION [OMIM:617988] +synonym: "JABELS" RELATED ABBREVIATION [] synonym: "Jaberi-Elahi syndrome" EXACT [OMIM:617988] xref: MEDGEN:1647359 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617988 {source="MONDO:equivalentTo"} @@ -534355,8 +534451,8 @@ replaced_by: MONDO:0035133 id: MONDO:0060713 name: deafness, congenital heart defects, and posterior embryotoxon subset: otar {source="MONDO:OTAR"} -synonym: "DCHE" RELATED ABBREVIATION [OMIM:617992] -synonym: "deafnes, congenital heart defects, and posterior embryotoxon" RELATED [OMIM:617992] +synonym: "DCHE" RELATED ABBREVIATION [] +synonym: "deafnes, congenital heart defects, and posterior embryotoxon" RELATED [] xref: MEDGEN:355614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C566604 {source="MONDO:equivalentTo"} xref: OMIM:617992 {source="MONDO:equivalentTo"} @@ -534370,7 +534466,7 @@ subset: gard_rare {source="GARD:16281", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HFTC2" RELATED ABBREVIATION [OMIM:617993] +synonym: "HFTC2" RELATED ABBREVIATION [] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 2" EXACT [OMIM:617993] xref: EFO:0009383 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:16281 {source="MONDO:GARD"} @@ -534390,7 +534486,7 @@ subset: gard_rare {source="GARD:16282", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "HFTC3" RELATED ABBREVIATION [OMIM:617994] +synonym: "HFTC3" RELATED ABBREVIATION [] synonym: "tumoral calcinosis, hyperphosphatemic, familial, 3" EXACT [OMIM:617994] xref: EFO:0009384 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:16282 {source="MONDO:GARD"} @@ -534408,8 +534504,8 @@ name: congenital disorder of glycosylation with defective fucosylation subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CDGF" RELATED ABBREVIATION [OMIM:618005] -synonym: "congenital disorder of glycosylation with defective fucosylation" EXACT [OMIM:618005] +synonym: "CDGF" RELATED ABBREVIATION [] +synonym: "congenital disorder of glycosylation with defective fucosylation" EXACT [OMIMPS:618005] xref: MEDGEN:1647704 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:618005 {source="MONDO:equivalentTo"} xref: UMLS:C4693905 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1647704"} @@ -534429,7 +534525,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glycosylphosphatidylinositol biosynthesis defect 17" EXACT [OMIM:618010] -synonym: "GPIBD17" RELATED ABBREVIATION [OMIM:618010] +synonym: "GPIBD17" RELATED ABBREVIATION [] xref: MEDGEN:1648437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618010 {source="MONDO:equivalentTo"} xref: UMLS:C4747891 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1648437"} @@ -534444,7 +534540,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "EPP2" RELATED ABBREVIATION [OMIM:618015] +synonym: "EPP2" RELATED ABBREVIATION [] synonym: "protoporphyria, erythropoietic, 2" EXACT [OMIM:618015] xref: MEDGEN:1645733 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618015 {source="MONDO:equivalentTo"} @@ -534458,9 +534554,9 @@ name: tetraamelia syndrome 2 subset: gard_rare {source="GARD:16286", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "TETAMS2" RELATED ABBREVIATION [OMIM:618021] -synonym: "tetraamelia syndrome 2" EXACT [OMIM:618021] -synonym: "tetraamelia syndrome 2 with pulmonary agenesis" RELATED [OMIM:618021] +synonym: "TETAMS2" RELATED ABBREVIATION [] +synonym: "tetraamelia syndrome 2" EXACT [DOID:0112193, OMIM:618021] +synonym: "tetraamelia syndrome 2 with pulmonary agenesis" RELATED [] xref: DOID:0112193 {source="MONDO:equivalentTo"} xref: GARD:16286 {source="MONDO:GARD"} xref: MEDGEN:1648284 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534477,8 +534573,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060733 name: humerofemoral hypoplasia with radiotibial ray deficiency subset: otar {source="MONDO:OTAR"} -synonym: "Hfhrtrd" RELATED [OMIM:618022] -synonym: "HHRRD" RELATED ABBREVIATION [OMIM:618022] +synonym: "Hfhrtrd" RELATED [] +synonym: "HHRRD" RELATED ABBREVIATION [] synonym: "humerofemoral hypoplasia with radiotibial ray deficiency" EXACT [OMIM:618022] xref: MEDGEN:1648393 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618022 {source="MONDO:equivalentTo"} @@ -534489,7 +534585,7 @@ is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditar id: MONDO:0060745 name: intellectual developmental disorder with or without epilepsy or cerebellar ataxia subset: otar {source="MONDO:OTAR"} -synonym: "IDDECA" RELATED ABBREVIATION [OMIM:618060] +synonym: "IDDECA" RELATED ABBREVIATION [] synonym: "intellectual developmental disorder with or without epilepsy or cerebellar ataxia" EXACT [OMIM:618060] xref: MEDGEN:1648354 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618060 {source="MONDO:equivalentTo"} @@ -534501,8 +534597,8 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ id: MONDO:0060752 name: neurodevelopmental disorder with spasticity and poor growth subset: otar {source="MONDO:OTAR"} -synonym: "NEDSG" RELATED ABBREVIATION [OMIM:618076] -synonym: "neurodevelopmental disorder with spasticity and poor growth" EXACT [OMIM:618076] +synonym: "NEDSG" RELATED ABBREVIATION [] +synonym: "neurodevelopmental disorder with spasticity and poor growth" EXACT [DOID:0070421, OMIM:618076] xref: DOID:0070421 {source="MONDO:equivalentTo"} xref: MEDGEN:1648309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618076 {source="MONDO:equivalentTo"} @@ -534519,7 +534615,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SCA42ND" RELATED ABBREVIATION [OMIM:618087] +synonym: "SCA42ND" RELATED ABBREVIATION [] synonym: "spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" EXACT [OMIM:618087] xref: MEDGEN:1648308 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618087 {source="MONDO:equivalentTo"} @@ -534537,9 +534633,9 @@ subset: ordo_disorder {source="Orphanet:597623"} subset: orphanet_rare {source="Orphanet:597623"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" EXACT [MONDO:0035363] -synonym: "NEDAMSS" RELATED ABBREVIATION [OMIM:618088] -synonym: "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" EXACT [OMIM:618088] +synonym: "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome" EXACT [MONDO:0035363, Orphanet:597623] +synonym: "NEDAMSS" RELATED ABBREVIATION [] +synonym: "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" EXACT [DOID:0081327, OMIM:618088] xref: DOID:0081327 {source="MONDO:equivalentTo"} xref: GARD:22396 {source="MONDO:GARD"} xref: MEDGEN:1648345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534559,8 +534655,8 @@ name: intellectual developmental disorder with dysmorphic facies and behavioral subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "IDDFBA" RELATED ABBREVIATION [OMIM:618089] -synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities" RELATED [OMIM:618089] +synonym: "IDDFBA" RELATED ABBREVIATION [] +synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities" RELATED [] synonym: "INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioural abnormalities" RELATED OMO:0003005 [] xref: MEDGEN:1648498 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618089 {source="MONDO:equivalentTo"} @@ -534574,7 +534670,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0060761 name: neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum subset: otar {source="MONDO:OTAR"} -synonym: "NEDEHCC" RELATED ABBREVIATION [OMIM:618090] +synonym: "NEDEHCC" RELATED ABBREVIATION [] synonym: "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" EXACT [OMIM:618090] xref: MEDGEN:1648487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618090 {source="MONDO:equivalentTo"} @@ -534593,9 +534689,9 @@ subset: orphanet_rare {source="Orphanet:662829"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "BCL11B-related BAFopathy" EXACT [https://orcid.org/0000-0001-7451-4467, PMID:30580808] -synonym: "IDDSFTA" RELATED ABBREVIATION [OMIM:618092] -synonym: "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities" EXACT [OMIM:618092, OMIM:genemap2] -synonym: "INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities" RELATED [OMIM:618092] +synonym: "IDDSFTA" RELATED ABBREVIATION [] +synonym: "intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities" EXACT [] +synonym: "INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities" RELATED [] xref: MEDGEN:1648327 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618092 {source="MONDO:equivalentTo"} xref: Orphanet:662829 {source="MONDO:equivalentTo"} @@ -534614,10 +534710,10 @@ name: tetraamelia syndrome 1 subset: gard_rare {source="GARD:15238", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "TETAMS1" RELATED ABBREVIATION [OMIM:273395] -synonym: "Tetra-amelia syndrome 1" EXACT [OMIM:273395, OMIM:genemap2] -synonym: "tetraamelia syndrome 1" EXACT [OMIM:273395] -synonym: "tetraamelia syndrome, autosomal recessive" RELATED [OMIM:273395] +synonym: "TETAMS1" RELATED ABBREVIATION [] +synonym: "Tetra-amelia syndrome 1" EXACT [DOID:0112192] +synonym: "tetraamelia syndrome 1" EXACT [DOID:0112192, OMIM:273395] +synonym: "tetraamelia syndrome, autosomal recessive" RELATED [] xref: DOID:0112192 {source="MONDO:equivalentTo"} xref: GARD:15238 {source="MONDO:GARD"} xref: MEDGEN:860705 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534646,7 +534742,7 @@ is_a: MONDO:0005079 {source="NCIT:C3337"} ! polyp id: MONDO:0060766 name: anal polyp def: "A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma." [NCIT:C3957] -synonym: "anal polyp" EXACT [NCIT:C3957] +synonym: "anal polyp" EXACT [icd11.foundation:2038426249, NCIT:C3957] synonym: "polyp of anus" EXACT [NCIT:C3957] synonym: "polyp of the anus" EXACT [NCIT:C3957] xref: icd11.foundation:2038426249 {source="MONDO:equivalentTo"} @@ -534667,7 +534763,7 @@ synonym: "fibroepithelial polyp of gingiva" EXACT [NCIT:C4693] synonym: "fibroepithelial polyp of gum" EXACT [NCIT:C4693] synonym: "fibroepithelial polyp of the gingiva" EXACT [NCIT:C4693] synonym: "fibroepithelial polyp of the gum" EXACT [NCIT:C4693] -synonym: "gingival fibroepithelial polyp" EXACT [NCIT:C4693] +synonym: "gingival fibroepithelial polyp" EXACT [icd11.foundation:1520492305, NCIT:C4693] synonym: "gum fibroepithelial polyp" EXACT [NCIT:C4693] xref: icd11.foundation:1520492305 {source="MONDO:equivalentTo"} xref: MEDGEN:98314 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -534838,7 +534934,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100003 name: susceptibility to angioedema induced by ACE inhibitors def: "An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema." [MONDO:patterns/inherited_susceptibility] -synonym: "angioedema induced by ACE inhibitors, susceptibility to" EXACT [OMIM:300909, OMIM:genemap2] +synonym: "angioedema induced by ACE inhibitors, susceptibility to" EXACT [OMIM:300909] xref: MEDGEN:813041 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300909 {source="MONDO:equivalentTo"} xref: UMLS:C3806711 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:813041"} @@ -535320,7 +535416,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100036 name: variable age onset epilepsy def: "An epilepsy syndrome that has an onset during variable ages and stages of life." [https://www.epilepsydiagnosis.org/syndrome/ffevf-overview.html#] -synonym: "variable age at onset electroclinical syndrome" BROAD [DOID:0050706] +synonym: "variable age at onset electroclinical syndrome" BROAD [] xref: DOID:0050706 {source="MONDO:equivalentTo"} is_a: MONDO:0005027 {source="https://orcid.org/0000-0001-8486-0558"} ! epilepsy property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T19:42:08Z" xsd:dateTime @@ -535350,7 +535446,7 @@ subset: ordo_disorder {source="Orphanet:528084"} subset: orphanet_rare {source="Orphanet:528084"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "complex neurodevelopmental disorder" EXACT CLINGEN_LABEL [] +synonym: "complex neurodevelopmental disorder" EXACT CLINGEN_LABEL [Orphanet:528084] xref: GARD:17965 {source="MONDO:GARD"} xref: MEDGEN:1800189 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:528084 {source="MONDO:equivalentTo"} @@ -535434,10 +535530,10 @@ property_value: seeAlso "https://rarediseases.org/rare-diseases/trimethylaminuri [Term] id: MONDO:0100042 name: cardiac conduction defect -synonym: "cardiac conduction disorder" BROAD [NCIT:C78245] -synonym: "conduction disorder" BROAD [NCIT:C78245] -synonym: "disorder of cardiac conduction" BROAD [NCIT:C78245] -synonym: "heart conduction disorder" BROAD [NCIT:C78245] +synonym: "cardiac conduction disorder" BROAD [] +synonym: "conduction disorder" BROAD [] +synonym: "disorder of cardiac conduction" BROAD [] +synonym: "heart conduction disorder" BROAD [] xref: MEDGEN:78114 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C78245 {source="MONDO:mondoIsBroaderThanSource"} xref: OMIM:115080 {source="EFO:0004278", source="MONDO:equivalentTo"} @@ -535465,7 +535561,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "acrofrontofacionasal dysostosis 1" EXACT [OMIM:201180] -synonym: "acrofrontofacionasal dysostosis type 1" EXACT [MONDORULE:1, OMIM:201180] +synonym: "acrofrontofacionasal dysostosis type 1" EXACT [MONDORULE:1] synonym: "AFFN dysostosis 1" EXACT [OMIM:201180] xref: MEDGEN:1632008 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C538186 {source="DOID:0060226", source="MONDO:equivalentTo"} @@ -535477,8 +535573,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100045 name: epidermodysplasia verruciformis, susceptibility to, 1 -synonym: "epidermodysplasia verruciformis 1" EXACT [OMIM:618231] -synonym: "EV1" EXACT ABBREVIATION [OMIM:618231] +synonym: "epidermodysplasia verruciformis 1" EXACT [] +synonym: "EV1" EXACT ABBREVIATION [OMIM:226400] xref: MEDGEN:1648341 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:226400 {source="MONDO:equivalentTo"} xref: UMLS:C4722564 {source="MEDGEN:1648341", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -535495,9 +535591,9 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100046 name: exfoliation syndrome, susceptibility to def: "An inherited susceptibility or predisposition to developing exfoliation syndrome." [MONDO:patterns/inherited_susceptibility] -synonym: "pseudoexfoliation glaucoma" RELATED [OMIM:177650] -synonym: "pseudoexfoliation of the lens" RELATED [OMIM:177650] -synonym: "pseudoexfoliation syndrome" RELATED [OMIM:177650] +synonym: "pseudoexfoliation glaucoma" RELATED [] +synonym: "pseudoexfoliation of the lens" RELATED [] +synonym: "pseudoexfoliation syndrome" RELATED [] xref: MEDGEN:864692 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:177650 {source="MONDO:equivalentTo"} xref: UMLS:C4016255 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:864692"} @@ -535544,8 +535640,8 @@ def: "Any Usher syndrome in which the cause of the disease is a mutation in the subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "USH1D/F, CDH23/PCDH15, digenic" RELATED [OMIM:601067] -synonym: "Usher syndrome, type 1D/F, CDH23/PCDH15, digenic" EXACT [OMIM:601067] +synonym: "USH1D/F, CDH23/PCDH15, digenic" RELATED [] +synonym: "Usher syndrome, type 1D/F, CDH23/PCDH15, digenic" EXACT [] xref: OMIM:601067 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0010168 {source="OMIM:601067"} ! Usher syndrome type 1 intersection_of: MONDO:0010168 ! Usher syndrome type 1 @@ -535590,8 +535686,8 @@ id: MONDO:0100053 name: anaphylaxis def: "An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting." [NCIT:C107101] subset: otar {source="MONDO:OTAR"} -synonym: "anaphylactic shock" EXACT [] -synonym: "systemic anaphylaxis" EXACT [PMID:18596587] +synonym: "anaphylactic shock" EXACT [icd11.foundation:1868068711] +synonym: "systemic anaphylaxis" EXACT [icd11.foundation:1868068711, PMID:18596587] xref: icd11.foundation:1868068711 {source="MONDO:equivalentTo"} xref: MedDRA:10002198 xref: MEDGEN:1373755 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -535667,8 +535763,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "branched-chain aminotransferase deficiency" EXACT [OMIM:618850] synonym: "HVLI" EXACT ABBREVIATION [OMIM:618850] -synonym: "hypervalinemia and hyperleucine-isoleucinemia" EXACT CLINGEN_LABEL [OMIM:618850] -synonym: "hypervalinemia or hyperleucine-isoleucinemia" EXACT [OMIM:618850, OMIM:genemap2] +synonym: "hypervalinemia and hyperleucine-isoleucinemia" EXACT CLINGEN_LABEL [DOID:0060950, OMIM:618850] +synonym: "hypervalinemia or hyperleucine-isoleucinemia" EXACT [] xref: DOID:0060950 {source="MONDO:equivalentTo"} xref: MEDGEN:1719306 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618850 {source="MONDO:equivalentTo"} @@ -535744,16 +535840,16 @@ subset: orphanet_rare {source="Orphanet:1934"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DEE" EXACT ABBREVIATION [] -synonym: "developmental and epileptic encephalopathy" EXACT CLINGEN_LABEL [https://orcid.org/0000-0001-8486-0558] -synonym: "early infantile epileptic encephalopathy" EXACT [DOID:0050709, MONDO:0016021] +synonym: "developmental and epileptic encephalopathy" EXACT CLINGEN_LABEL [DOID:0112202, https://orcid.org/0000-0001-8486-0558, NCIT:C122814, OMIMPS:308350] +synonym: "early infantile epileptic encephalopathy" EXACT [DOID:0050709, MONDO:0016021, NCIT:C122814, Orphanet:1934] synonym: "early infantile epileptic encephalopathy with burst-suppression" EXACT [DOID:0050709] synonym: "early infantile epileptic encephalopathy with suppression-bursts" EXACT [Orphanet:1934] -synonym: "EIEE" EXACT ABBREVIATION [Orphanet:1934] -synonym: "epileptic encephalopathy, early infantile" EXACT [DOID:2481] -synonym: "epileptic encephalopathy, early infantile, 15" RELATED EXCLUDE [DOID:0050709] -synonym: "epileptic encephalopathy, infantile" EXACT [DOID:2481] +synonym: "EIEE" EXACT ABBREVIATION [NCIT:C122814, Orphanet:1934] +synonym: "epileptic encephalopathy, early infantile" EXACT [] +synonym: "epileptic encephalopathy, early infantile, 15" RELATED EXCLUDE [] +synonym: "epileptic encephalopathy, infantile" EXACT [] synonym: "infantile epileptic encephalopathy" EXACT [MONDO:0006508] -synonym: "infantile spasm" EXACT [DOID:2481] +synonym: "infantile spasm" EXACT [] synonym: "Ohtahara syndrome" EXACT [MONDO:0000418, Orphanet:1934] xref: DOID:0050709 {source="MONDO:equivalentTo"} xref: DOID:0112202 {source="MONDO:equivalentTo", source="MONDO:preferredExternal"} @@ -535812,8 +535908,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "TH deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] synonym: "tyrosine 3-monooxygenase deficiency" EXACT [https://orcid.org/0000-0002-5655-9589] -synonym: "tyrosine Hydroxylase deficiency" EXACT [OMIM:605407] -synonym: "tyrosine hydroxylase deficiency" EXACT CLINGEN_LABEL [] +synonym: "tyrosine Hydroxylase deficiency" EXACT [icd11.foundation:247698609, NCIT:C157158] +synonym: "tyrosine hydroxylase deficiency" EXACT CLINGEN_LABEL [icd11.foundation:247698609, NCIT:C157158] xref: icd11.foundation:247698609 {source="MONDO:equivalentTo"} xref: MEDGEN:1814581 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200595 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -536015,10 +536111,10 @@ comment: EEEI6 is the OMIM placeholder for SCN1A-related severe epilepsies. The subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEE6" EXACT ABBREVIATION [OMIM:607208] +synonym: "DEE6" EXACT ABBREVIATION [] synonym: "developmental and epileptic encephalopathy, 6" EXACT CLINGEN_LABEL [] -synonym: "Dravet syndrome" RELATED [OMIM:607208, OMIM:genemap2] -synonym: "EIEE6" EXACT ABBREVIATION [OMIM:607208] +synonym: "Dravet syndrome" RELATED [] +synonym: "EIEE6" EXACT ABBREVIATION [] synonym: "epileptic encephalopathy, early infantile, 6" EXACT [OMIM:607208] xref: OMIM:607208 {source="MONDO:equivalentTo"} is_a: MONDO:0100062 {source="OMIM:607208", source="https://orcid.org/0000-0001-5208-3432"} ! developmental and epileptic encephalopathy @@ -536044,10 +536140,10 @@ id: MONDO:0100081 name: sleep disorder def: "A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep." [NCIT:C3376] subset: otar {source="MONDO:OTAR"} -synonym: "disturbances, sleep" EXACT [NCIT:C3376] -synonym: "parasomnia" RELATED [NCIT:C3376] +synonym: "disturbances, sleep" EXACT [] +synonym: "parasomnia" RELATED [] synonym: "sleep disturbance" EXACT [NCIT:C3376] -synonym: "sleep disturbances" EXACT [NCIT:C3376] +synonym: "sleep disturbances" EXACT [] xref: EFO:0008568 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:F50-F59 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:G40-G47 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -536067,8 +536163,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "lentiginosis, cardiomyopathic" EXACT [OMIM:151100] -synonym: "LEOPARD syndrome 1" EXACT CLINGEN_LABEL [] -synonym: "LEOPARD syndrome type 1" EXACT [MONDORULE:1, OMIM:151100] +synonym: "LEOPARD syndrome 1" EXACT CLINGEN_LABEL [DOID:0080548, OMIM:151100] +synonym: "LEOPARD syndrome type 1" EXACT [MONDORULE:1] synonym: "LPRD1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:151100] synonym: "multiple lentigines syndrome" EXACT [OMIM:151100] xref: DOID:0080548 {source="MONDO:equivalentTo"} @@ -536088,19 +536184,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "asprin-like platelet disorder" RELATED [GARD:0010352, https://clinicalgenome.org/affiliation/50034/] synonym: "Familial Platelet Disorder with Associated Myeloid Malignancy" EXACT [NORD:1943] -synonym: "familial platelet disorder with associated myeloid malignancy" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] +synonym: "familial platelet disorder with associated myeloid malignancy" EXACT [https://clinicalgenome.org/affiliation/50034/] synonym: "familial platelet syndrome with predisposition to acute myelogenous leukaemia" EXACT OMO:0003005 [] -synonym: "familial platelet syndrome with predisposition to acute myelogenous leukemia" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] +synonym: "familial platelet syndrome with predisposition to acute myelogenous leukemia" EXACT [https://clinicalgenome.org/affiliation/50034/] synonym: "familial thrombocytopenia with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] synonym: "familial thrombocytopenia with propensity to acute myelogenous leukemia" RELATED [GARD:0010352, https://clinicalgenome.org/affiliation/50034/] -synonym: "FPD/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] -synonym: "FPDMM" RELATED ABBREVIATION [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399] -synonym: "FPS/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/, Orphanet:71290] +synonym: "FPD/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/] +synonym: "FPDMM" RELATED ABBREVIATION [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical] +synonym: "FPS/AML syndrome" EXACT [https://clinicalgenome.org/affiliation/50034/] synonym: "hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1" EXACT CLINGEN_LABEL [] -synonym: "platelet disorder, aspirin-like" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399] -synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical, OMIM:601399] +synonym: "platelet disorder, aspirin-like" RELATED [https://clinicalgenome.org/affiliation/50034/] +synonym: "platelet disorder, familial, with associated myeloid malignancy" RELATED [https://clinicalgenome.org/affiliation/50034/, MONDO:Lexical] synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukaemia" RELATED OMO:0003005 [] -synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED [https://clinicalgenome.org/affiliation/50034/, OMIM:601399] +synonym: "thrombocytopenia, familial, with propensity to acute myelogenous leukemia" RELATED [https://clinicalgenome.org/affiliation/50034/] xref: GARD:15329 {source="MONDO:GARD"} xref: MEDGEN:321945 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NANDO:2200662 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} @@ -536159,7 +536255,7 @@ def: "A condition affecting an unborn or newly born individual, where the perina subset: harrisons_view subset: otar {source="MONDO:OTAR"} synonym: "perinatal condition" EXACT [] -synonym: "perinatal disorder" EXACT [NCIT:C35095] +synonym: "perinatal disorder" EXACT [] xref: EFO:0010238 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:P00-P96 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} xref: ICD10CM:P19-P29 {source="https://github.com/monarch-initiative/mondo/issues/4536", source="https://orcid.org/0000-0001-5208-3432", source="https://orcid.org/0000-0002-4142-7153"} @@ -536180,7 +536276,7 @@ def: "A degenerative disease of the brain that causes gradual loss of memory, ju subset: inferred_rare subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Alzheimer disease, familial" EXACT [DOID:10652, MESH:C536597] +synonym: "Alzheimer disease, familial" EXACT [MESH:C536597] synonym: "FAD" EXACT ABBREVIATION [GARD:0000632] synonym: "GARD:0000632" EXACT [MONDO:equivalentTo] xref: MEDGEN:82914 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -536271,9 +536367,9 @@ def: "Familial cortical myoclonus caused by heterozygous mutation in the NOL3 ge subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "FCM" EXACT ABBREVIATION [OMIM:614937] +synonym: "FCM" EXACT ABBREVIATION [] synonym: "MYOCL1" EXACT ABBREVIATION [OMIM:614937] -synonym: "myoclonus, familial cortical" BROAD [OMIM:614937] +synonym: "myoclonus, familial cortical" BROAD [] xref: MEDGEN:761667 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614937 {source="MONDO:equivalentTo"} xref: UMLS:C3539916 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761667"} @@ -536302,7 +536398,7 @@ def: "Autosomal recessive neurodegenerative disorder with onset in the first yea subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CONDSIAS" EXACT ABBREVIATION [OMIM:618170] +synonym: "CONDSIAS" EXACT ABBREVIATION [DOID:0070352, OMIM:618170] synonym: "neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures" EXACT [OMIM:618170] xref: DOID:0070352 {source="MONDO:equivalentTo"} xref: MEDGEN:1648391 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -536323,7 +536419,7 @@ subset: otar {source="MONDO:OTAR"} synonym: "2019 novel coronavirus" RELATED [https://orcid.org/0000-0002-2825-0621, https://www.cdc.gov/coronavirus/2019-ncov/index.html] synonym: "2019 novel coronavirus infection" EXACT [https://www.cdc.gov/coronavirus/2019-ncov/about/index.html] synonym: "2019-nCoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] -synonym: "2019-nCoV infection" EXACT [https://www.cdc.gov/coronavirus/2019-ncov/index.html] +synonym: "2019-nCoV infection" EXACT [DOID:0080600, https://www.cdc.gov/coronavirus/2019-ncov/index.html] synonym: "beta-CoV" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] synonym: "beta-CoVs" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] synonym: "betacoronavirus" RELATED [https://nextstrain.org/groups/blab/sars-like-cov, https://orcid.org/0000-0002-2825-0621] @@ -536413,7 +536509,7 @@ subset: ordo_disorder {source="Orphanet:994"} subset: orphanet_rare {source="Orphanet:994"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FADS1" EXACT ABBREVIATION [OMIM:208150] +synonym: "FADS1" EXACT ABBREVIATION [DOID:0111377, OMIM:208150] synonym: "Pena-Shokeir syndrome type 1" EXACT [Orphanet:994] synonym: "Pena-Shokeir syndrome, type 1" EXACT [OMIM:208150] xref: DOID:0111377 {source="MONDO:equivalentTo"} @@ -536434,7 +536530,7 @@ def: "Any fetal akinesia deformation sequence in which the cause of the disease subset: gard_rare {source="GARD:16495", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "FADS2" EXACT ABBREVIATION [OMIM:618388] +synonym: "FADS2" EXACT ABBREVIATION [DOID:0111378, OMIM:618388] xref: DOID:0111378 {source="MONDO:equivalentTo"} xref: GARD:16495 {source="MONDO:GARD"} xref: MEDGEN:1678048 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -536453,7 +536549,7 @@ def: "Any fetal akinesia deformation sequence in which the cause of the disease subset: gard_rare {source="GARD:16496", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "FADS3" EXACT ABBREVIATION [OMIM:618389] +synonym: "FADS3" EXACT ABBREVIATION [DOID:0111376, OMIM:618389] xref: DOID:0111376 {source="MONDO:equivalentTo"} xref: GARD:16496 {source="MONDO:GARD"} xref: MEDGEN:1680087 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -536472,7 +536568,7 @@ def: "Any fetal akinesia deformation sequence in which the cause of the disease subset: gard_rare {source="GARD:16497", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "FADS4" EXACT ABBREVIATION [OMIM:618393] +synonym: "FADS4" EXACT ABBREVIATION [DOID:0111379, OMIM:618393] xref: DOID:0111379 {source="MONDO:equivalentTo"} xref: GARD:16497 {source="MONDO:GARD"} xref: MEDGEN:1675450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -536490,7 +536586,7 @@ def: "An autosomal recessive disorder resulting from fragility of cerebral vesse subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "BSVD3" EXACT ABBREVIATION [OMIM:618360] +synonym: "BSVD3" EXACT ABBREVIATION [DOID:0112315, OMIM:618360] xref: DOID:0112315 {source="MONDO:equivalentTo"} xref: MEDGEN:1677948 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618360 {source="MONDO:equivalentTo"} @@ -536652,7 +536748,7 @@ subset: orphanet_rare {source="Orphanet:576074"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "camel flu" EXACT [Wikipedia:Middle_East_respiratory_syndrome] -synonym: "MERS" EXACT ABBREVIATION [NCIT:C128424] +synonym: "MERS" EXACT ABBREVIATION [NCIT:C128424, Orphanet:576074] xref: DOID:0080642 {source="MONDO:equivalentTo"} xref: GARD:22321 {source="MONDO:GARD"} xref: icd11.foundation:1840423014 {source="MONDO:equivalentTo", source="Orphanet:576074"} @@ -536670,7 +536766,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100117 name: obsolete familial sudden death def: "OBSOLETE. An instance of sudden cardiac death that is caused by an inherited genomic modification in an individual." [MONDO:patterns/hereditary] -synonym: "familial sudden death syndrome" EXACT [OMIM:115080] +synonym: "familial sudden death syndrome" EXACT [] xref: OMIM:115080 {source="MONDO:includedEntryInOMIM"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludePhenotype"} @@ -536809,7 +536905,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100125 name: hallucinogen-persisting perception disorder def: "A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses." [PMID:29547576] -synonym: "hallucinogen abuse with hallucinogen persisting perception disorder" NARROW [ICD10CM:F16.183] +synonym: "hallucinogen abuse with hallucinogen persisting perception disorder" NARROW [] xref: ICD10CM:F16.183 {source="MONDO:relatedTo"} is_a: MONDO:0024417 {source="https://orcid.org/0000-0001-5208-3432"} ! perceptual disorders @@ -536877,11 +536973,11 @@ subset: ordo_disorder {source="Orphanet:70578"} subset: orphanet_rare {source="Orphanet:70578"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "adult acute respiratory distress syndrome" EXACT [MONDO:0019089] +synonym: "adult acute respiratory distress syndrome" EXACT [icd11.foundation:1466842111, MONDO:0019089, Orphanet:70578] synonym: "adult ARDS" EXACT [Orphanet:70578] -synonym: "adult RDS" EXACT [DOID:11394, NCIT:C3353] -synonym: "adult respiratory distress syndrome" EXACT [GARD:0005698, MONDO:0001278] -synonym: "adult respiratory distress syndrome, ARDS" EXACT [NCIT:C3353] +synonym: "adult RDS" EXACT [DOID:11394] +synonym: "adult respiratory distress syndrome" EXACT [DOID:11394, GARD:0005698, icd11.foundation:1466842111, MONDO:0001278] +synonym: "adult respiratory distress syndrome, ARDS" EXACT [] synonym: "ARDS" RELATED ABBREVIATION [https://orcid.org/0000-0002-2825-0621] synonym: "respiratory distress syndrome, adult" EXACT [GARD:0005698] xref: DOID:11394 {source="MONDO:equivalentTo"} @@ -536932,7 +537028,7 @@ subset: orphanet_rare {source="Orphanet:2609"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "complex 1 mitochondrial respiratory chain deficiency" EXACT [GARD:0003908] -synonym: "isolated complex I deficiency" EXACT [GARD:0003908] +synonym: "isolated complex I deficiency" EXACT [GARD:0003908, Orphanet:2609] synonym: "isolated mitochondrial respiratory chain complex I deficiency" EXACT [DOID:0060536, Orphanet:2609] synonym: "isolated NADH-coenzyme Q reductase deficiency" EXACT [DOID:0060536, Orphanet:2609] synonym: "isolated NADH-CoQ reductase deficiency" EXACT [DOID:0060536, Orphanet:2609] @@ -536969,10 +537065,10 @@ subset: gard_rare {source="GARD:10430", source="MONDO:GARD"} subset: nord_rare {source="NORD:1061", source="MONDO:NORD"} subset: rare synonym: "Dravet" EXACT [PMID:37498137] -synonym: "Dravet syndrome" EXACT CLINGEN_LABEL [OMIM:607208] -synonym: "DS" EXACT ABBREVIATION [Orphanet:33069] +synonym: "Dravet syndrome" EXACT CLINGEN_LABEL [DOID:0080422, icd11.foundation:1255654700, NCIT:C116573] +synonym: "DS" EXACT ABBREVIATION [] synonym: "myoclonic epilepsy, severe, of infancy" EXACT [GARD:0010430] -synonym: "severe myoclonic epilepsy of infancy" EXACT [PMID:37498137] +synonym: "severe myoclonic epilepsy of infancy" EXACT [DOID:0080422, NCIT:C116573, PMID:37498137] synonym: "SME" EXACT ABBREVIATION [GARD:0010430] synonym: "SMEB" EXACT ABBREVIATION [PMID:37498137] xref: DOID:0060171 {source="MONDO:equivalentObsolete"} @@ -537211,7 +537307,7 @@ synonym: "Abderhalden Lignac Kaufmann disease" EXACT [GARD:0010074] synonym: "Abderhalden-Kaufmann-Lignac syndrome" EXACT [MONDO:0021725] synonym: "Abderhalden-Lignac-Kaufmann disease" EXACT [MESH:C535335] synonym: "CTNS" EXACT ABBREVIATION [OMIM:219800] -synonym: "cystinosis, atypical nephropathic" EXACT [OMIM:219800, OMIM:genemap2] +synonym: "cystinosis, atypical nephropathic" EXACT [] synonym: "cystinosis, nephropathic" EXACT [MONDO:Lexical, OMIM:219800] xref: GARD:10074 {source="MONDO:GARD"} xref: icd11.foundation:810546659 {source="MONDO:equivalentTo"} @@ -537281,15 +537377,15 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "enterocyte cobalamin malabsorption" EXACT [OMIM:261100] synonym: "enterocyte intrinsic factor receptor, defect of" EXACT [OMIM:261100] -synonym: "Imerslund-Grasbeck syndrome 1" EXACT [OMIM:261100, OMIM:genemap2] +synonym: "Imerslund-Grasbeck syndrome 1" EXACT [OMIM:261100] synonym: "Imerslund-Grasbeck syndrome type 1" EXACT CLINGEN_LABEL [] synonym: "megaloblastic Anaemia type 1" EXACT OMO:0003005 [] -synonym: "megaloblastic Anemia type 1" EXACT [MONDORULE:1, OMIM:261100] +synonym: "megaloblastic Anemia type 1" EXACT [MONDORULE:1] synonym: "megaloblastic anemia, 1" EXACT [OMIM:261100] synonym: "megaloblastic anemia, Finnish type" EXACT [OMIM:261100] -synonym: "MGA-1" EXACT [NCIT:C131677] -synonym: "MGA1" EXACT ABBREVIATION [OMIM:261100] -synonym: "Mga1" EXACT [OMIM:261100] +synonym: "MGA-1" EXACT ABBREVIATION [NCIT:C131677] +synonym: "MGA1" EXACT ABBREVIATION [] +synonym: "Mga1" EXACT [] synonym: "pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria" EXACT [OMIM:261100] xref: MEDGEN:865256 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C131677 {source="MONDO:equivalentTo"} @@ -537311,7 +537407,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Imerslund-Grasbeck syndrome 2" EXACT [OMIM:618882, OMIM:genemap2] +synonym: "Imerslund-Grasbeck syndrome 2" EXACT [OMIM:618882] synonym: "megaloblastic anemia, Norwegian type" EXACT [OMIM:618882] xref: MEDGEN:865385 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618882 {source="MONDO:equivalentTo"} @@ -537366,7 +537462,7 @@ def: "Renal tubular acidosis (RTA) that is caused by a generalized transport abn subset: inferred_rare subset: rare synonym: "hyperkalemic RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] -synonym: "renal tubular acidosis type 4" EXACT [Orphanet:89939] +synonym: "renal tubular acidosis type 4" EXACT [] synonym: "type 4 renal tubular acidosis" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] synonym: "type 4 RTA" EXACT [https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis] xref: MEDGEN:87662 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -537396,11 +537492,11 @@ comment: The clinical presentation of MIS-C includes fever, severe illness, and subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "COVID-19 -related paediatric inflammatory multisystem syndrome" EXACT OMO:0003005 [] -synonym: "COVID-19 -related pediatric inflammatory multisystem syndrome" EXACT [NCIT:C172127] +synonym: "COVID-19 -related pediatric inflammatory multisystem syndrome" EXACT [] synonym: "COVID-19 associated multisystem inflammatory syndrome in children" EXACT [https://www.cdc.gov/mmwr/volumes/69/wr/mm6932e2.htm] synonym: "COVID-19 Kawasaki-like syndrome" EXACT [https://orcid.org/0000-0002-0736-9199] -synonym: "MIS-C" EXACT ABBREVIATION [PMID:32630212] -synonym: "multisystem inflammatory syndrome in children" EXACT [DOID:0080711] +synonym: "MIS-C" EXACT ABBREVIATION [DOID:0080711, NCIT:C172127, PMID:32630212] +synonym: "multisystem inflammatory syndrome in children" EXACT [DOID:0080711, NCIT:C172127] synonym: "multisystem inflammatory syndrome in children associated with coronavirus disease 2019" EXACT [PMID:32768466] synonym: "multisystem inflammatory syndrome in children associated with COVID-19" EXACT [NCIT:C172127, PMID:32768466] synonym: "paediatric inflammatory multisystem syndrome" EXACT OMO:0003005 [] @@ -537434,14 +537530,14 @@ subset: ordo_disorder {source="Orphanet:99885"} subset: orphanet_rare {source="Orphanet:99885"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "developmental delay, epilepsy, and neonatal diabetes" RELATED [OMIMPS:606176] -synonym: "diabetes mellitus, permanent neonatal" RELATED [MONDO:Lexical, OMIMPS:606176] -synonym: "diabetes mellitus, permanent neonatal, with neurologic features" RELATED [OMIMPS:606176] -synonym: "diabetes mellitus, permanent, of infancy" RELATED [OMIMPS:606176] +synonym: "developmental delay, epilepsy, and neonatal diabetes" RELATED [] +synonym: "diabetes mellitus, permanent neonatal" RELATED [MONDO:Lexical] +synonym: "diabetes mellitus, permanent neonatal, with neurologic features" RELATED [] +synonym: "diabetes mellitus, permanent, of infancy" RELATED [] synonym: "monogenic diabetes of infancy" EXACT [Orphanet:99885] -synonym: "PDMI" EXACT ABBREVIATION [DOID:0060639, OMIMPS:606176] +synonym: "PDMI" EXACT ABBREVIATION [DOID:0060639] synonym: "permanent diabetes mellitus of infancy" EXACT [DOID:0060639] -synonym: "PNDM" EXACT ABBREVIATION [DOID:0060639, MONDO:Lexical, OMIMPS:606176, Orphanet:99885] +synonym: "PNDM" EXACT ABBREVIATION [DOID:0060639, MONDO:Lexical] xref: DOID:0060639 {source="MONDO:equivalentTo"} xref: GARD:10457 {source="MONDO:GARD"} xref: ICD10CM:P70.2 {source="Orphanet:99885", source="Orphanet:99885/attributed", source="Orphanet:99885/ntbt"} @@ -537468,9 +537564,9 @@ def: "A rare autosomal recessive disorder characterized by severe hyperglycemia subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "diabetes mellitus, permanent neonatal 1" EXACT [OMIM:606176, OMIM:genemap2] -synonym: "diabetes mellitus, permanent, of infancy" RELATED [OMIM:606176] -synonym: "PDMI" RELATED ABBREVIATION [OMIM:606176] +synonym: "diabetes mellitus, permanent neonatal 1" EXACT [] +synonym: "diabetes mellitus, permanent, of infancy" RELATED [] +synonym: "PDMI" RELATED ABBREVIATION [] synonym: "PNDM1" EXACT ABBREVIATION [OMIM:606176] xref: MEDGEN:1717586 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606176 {source="MONDO:equivalentTo"} @@ -537524,7 +537620,7 @@ id: MONDO:0100169 name: polyneuropathy, inflammatory demyelinating, chronic subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CIDP" EXACT ABBREVIATION [OMIM:139393] +synonym: "CIDP" EXACT ABBREVIATION [] xref: OMIM:139393 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0016218 {source="OMIM:139393"} ! Guillain-Barre syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2808" xsd:anyURI @@ -537552,8 +537648,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100172 name: intellectual disability, autosomal dominant subset: otar {source="MONDO:OTAR"} -synonym: "autosomal dominant intellectual disability" EXACT [OMIMPS:156200] -synonym: "mental retardation, autosomal dominant" BROAD DEPRECATED [OMIMPS:156200] +synonym: "autosomal dominant intellectual disability" EXACT [] +synonym: "mental retardation, autosomal dominant" BROAD DEPRECATED [] xref: OMIMPS:156200 {source="MONDO:equivalentTo"} is_a: MONDO:0001071 {source="OMIMPS:156200"} ! intellectual disability intersection_of: MONDO:0001071 ! intellectual disability @@ -537616,7 +537712,7 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100177 name: allergic rhinitis, susceptibility to def: "An inherited susceptibility or predisposition to developing allergic rhinitis." [MONDO:patterns/inherited_susceptibility] -synonym: "allergic rhinitis, susceptibility to" EXACT [OMIM:607154, OMIM:genemap2] +synonym: "allergic rhinitis, susceptibility to" EXACT [] xref: MEDGEN:865977 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607154 {source="MONDO:equivalentTo"} xref: UMLS:C4017540 {source="MEDGEN:865977", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -537650,7 +537746,7 @@ id: MONDO:0100180 name: diabetes mellitus, ketosis-prone def: "An inherited susceptibility or predisposition to developing diabetes mellitus, ketosis." [MONDO:patterns/inherited_susceptibility] synonym: "diabetes mellitus, ketosis-prone" EXACT [OMIM:612227] -synonym: "diabetes mellitus, ketosis-prone, susceptibility to" EXACT [OMIM:612227, OMIM:genemap2] +synonym: "diabetes mellitus, ketosis-prone, susceptibility to" EXACT [] synonym: "KPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:612227] xref: MEDGEN:1381503 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612227 {source="MONDO:equivalentTo"} @@ -537666,8 +537762,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0100181 name: dermatitis, atopic, 1 def: "An inherited susceptibility or predisposition to developing atopic dermatitis. A genomewide linkage study revealed highly significant evidence for linkage on 3q21 (ATOD1) at marker D3S3606." [MONDO:patterns/inherited_susceptibility, OMIM:603165] -synonym: "ATOD1" EXACT ABBREVIATION [OMIM:603165] -synonym: "dermatitis, atopic, susceptibility to, 1" EXACT [OMIM:603165] +synonym: "ATOD1" EXACT ABBREVIATION [] +synonym: "dermatitis, atopic, susceptibility to, 1" EXACT [] xref: OMIM:603165 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0100178 {source="OMIM:603165"} ! dermatitis, atopic, susceptibility to property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -537718,8 +537814,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100185 name: immune reconstitution inflammatory syndrome def: "An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens." [PMID:22121257] -synonym: "immune reconstitution inflammatory syndrome associated with Kaposi sarcoma" NARROW [NCIT:C125712] -synonym: "immune reconstitution syndrome" EXACT [PMID:22121257] +synonym: "immune reconstitution inflammatory syndrome associated with Kaposi sarcoma" NARROW [] +synonym: "immune reconstitution syndrome" EXACT [icd11.foundation:180703474, PMID:22121257] synonym: "immune restoration disease" EXACT [PMID:22121257] synonym: "IRD" EXACT ABBREVIATION [PMID:22121257] synonym: "IRIS" EXACT ABBREVIATION [PMID:22121257] @@ -537741,14 +537837,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:2102"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "GTP cyclohydrolase 1 deficiency" RELATED [OMIM:233910] -synonym: "GTP cyclohydrolase I deficiency" RELATED [Orphanet:2102] -synonym: "GTPCH deficiency" EXACT [Orphanet:2102] -synonym: "HPABH4B" RELATED ABBREVIATION [MONDO:Lexical, OMIM:233910] +synonym: "GTP cyclohydrolase 1 deficiency" RELATED [] +synonym: "GTP cyclohydrolase I deficiency" RELATED [] +synonym: "GTPCH deficiency" EXACT [NCIT:C141442, Orphanet:2102] +synonym: "HPABH4B" RELATED ABBREVIATION [MONDO:Lexical] synonym: "hyperphenylalaninemia due to GTP cyclohydrolase deficiency" EXACT [Orphanet:2102] -synonym: "hyperphenylalaninemia, BH4-deficient, B" RELATED [GARD:0002844, MONDO:Lexical, OMIM:233910] -synonym: "hyperphenylalaninemia, Bh4-deficient, type B" EXACT [MONDORULE:1, OMIM:233910] -synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency" RELATED [OMIM:233910] +synonym: "hyperphenylalaninemia, BH4-deficient, B" RELATED [GARD:0002844, MONDO:Lexical] +synonym: "hyperphenylalaninemia, Bh4-deficient, type B" EXACT [MONDORULE:1] +synonym: "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency" RELATED [] xref: DOID:0112225 {source="MONDO:equivalentTo"} xref: GARD:2844 {source="MONDO:GARD"} xref: ICD10CM:E70.1 {source="Orphanet:2102", source="Orphanet:2102/attributed", source="Orphanet:2102/ntbt"} @@ -537795,9 +537891,9 @@ name: obsolete apolipoprotein A-I deficiency def: "OBSOLETE. A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." [Orphanet:425] subset: ordo_disorder {source="Orphanet:425"} subset: otar {source="MONDO:OTAR"} -synonym: "ApoA-I deficiency" EXACT [Orphanet:425] -synonym: "familial apoA-I deficiency" EXACT [Orphanet:425] -synonym: "familial hypoalphalipoproteinemia" EXACT [Orphanet:425] +synonym: "ApoA-I deficiency" EXACT [] +synonym: "familial apoA-I deficiency" EXACT [] +synonym: "familial hypoalphalipoproteinemia" EXACT [] xref: NANDO:2200605 {source="MONDO:NANDO", source="https://orcid.org/0000-0003-0011-764X", source="https://orcid.org/0000-0002-0170-9172"} xref: Orphanet:425 {source="MONDO:obsoleteEquivalent"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 @@ -537854,7 +537950,7 @@ def: "Liver failure that develops slowly and gradually for some time, possibly f synonym: "end stage liver disease" EXACT [NCIT:C84428] synonym: "end stage liver disease (decompensated liver disease)" EXACT [NCIT:C84428] synonym: "end-stage liver disease" EXACT [NCIT:C84428] -synonym: "ESLD" EXACT ABBREVIATION [NCIT:C84428] +synonym: "ESLD" EXACT ABBREVIATION [] xref: MEDGEN:423539 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C84428 {source="MONDO:equivalentTo"} xref: UMLS:C2936476 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:423539"} @@ -538101,9 +538197,9 @@ subset: orphanet_rare {source="Orphanet:220465"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "growth hormone insensitivity due to postreceptor defect" EXACT [OMIM:245590] -synonym: "growth hormone insensitivity with immunodeficiency" RELATED [OMIM:245590] +synonym: "growth hormone insensitivity with immunodeficiency" RELATED [] synonym: "Laron syndrome due to postreceptor defect" EXACT [OMIM:245590] -synonym: "Laron syndrome with immunodeficiency" EXACT [MONDO:0009510] +synonym: "Laron syndrome with immunodeficiency" EXACT [MONDO:0009510, Orphanet:220465] synonym: "Laron-like syndrome" EXACT [Orphanet:220465] synonym: "short stature due to STAT5b deficiency" EXACT [Orphanet:220465] xref: DOID:0080836 {source="MONDO:equivalentTo"} @@ -538170,8 +538266,8 @@ subset: rare synonym: "ichthyosis follicularis atrichia photophobia syndrome" RELATED [GARD:0002952] synonym: "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia" EXACT [OMIM:308205] synonym: "ichthyosis follicularis-alopecia-photophobia syndrome" BROAD [https://clinicalgenome.org/affiliation/40006/, https://github.com/monarch-initiative/mondo/issues/1144] -synonym: "IFAP syndrome with or without BRESHECK syndrome" EXACT CLINGEN_LABEL [OMIM:308205] -synonym: "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive" EXACT [OMIM:308205, OMIM:genemap2] +synonym: "IFAP syndrome with or without BRESHECK syndrome" EXACT CLINGEN_LABEL [] +synonym: "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive" EXACT [] synonym: "IFAP/BRESHECK syndrome" EXACT [MONDO:0010624] xref: DOID:0111821 {source="MONDO:equivalentTo"} xref: GARD:15297 {source="MONDO:GARD"} @@ -538218,11 +538314,11 @@ subset: ordo_disorder {source="Orphanet:178506"} subset: orphanet_rare {source="Orphanet:178506"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "brain calcification, Rajab type" EXACT [MONDO:0013346] -synonym: "developmental delay, small stature, microcephaly, and brain calcifications" RELATED [OMIM:613658] -synonym: "NEDBLLA" RELATED ABBREVIATION [OMIM:618007] -synonym: "neurodevelopmental disorder with brain, liver, and lung abnormalities" EXACT [OMIM:618007] -synonym: "Rajab syndrome" RELATED [OMIM:613658] +synonym: "brain calcification, Rajab type" EXACT [MONDO:0013346, Orphanet:178506] +synonym: "developmental delay, small stature, microcephaly, and brain calcifications" RELATED [] +synonym: "NEDBLLA" RELATED ABBREVIATION [] +synonym: "neurodevelopmental disorder with brain, liver, and lung abnormalities" EXACT [] +synonym: "Rajab syndrome" RELATED [] xref: GARD:18297 {source="MONDO:GARD"} xref: MEDGEN:1750003 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613658 {source="Orphanet:178506/e", source="MONDO:equivalentTo", source="Orphanet:178506"} @@ -538246,14 +538342,14 @@ subset: gard_rare {source="GARD:10734", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:284343"} subset: orphanet_rare {source="Orphanet:284343"} subset: rare -synonym: "DICER1 syndrome" EXACT CLINGEN_LABEL [GARD:0010734, NCIT:C123317, Orphanet:284343] +synonym: "DICER1 syndrome" EXACT CLINGEN_LABEL [DOID:0081063, GARD:0010734, NCIT:C123317] synonym: "DICER1-related pleuropulmonary blastoma" RELATED [GARD:0010734] synonym: "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome" RELATED [GARD:0010734] -synonym: "pleuro-pulmonary blastoma familial tumor susceptibility syndrome" EXACT [Orphanet:284343] +synonym: "pleuro-pulmonary blastoma familial tumor susceptibility syndrome" EXACT [DOID:0081063] synonym: "pleuro-pulmonary blastoma familial tumour susceptibility syndrome" EXACT OMO:0003005 [] -synonym: "pleuropulmonary blastoma familial tumor susceptibility syndrome" EXACT [Orphanet:284343] +synonym: "pleuropulmonary blastoma familial tumor susceptibility syndrome" EXACT [DOID:0081063] synonym: "pleuropulmonary blastoma familial tumour susceptibility syndrome" EXACT OMO:0003005 [] -synonym: "PPB familial tumor susceptibility syndrome" EXACT [Orphanet:284343] +synonym: "PPB familial tumor susceptibility syndrome" EXACT [DOID:0081063] synonym: "PPB familial tumour susceptibility syndrome" EXACT OMO:0003005 [] synonym: "PPBFTDS" EXACT ABBREVIATION [Orphanet:284343] xref: DOID:0081063 {source="MONDO:equivalentTo"} @@ -538277,8 +538373,8 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/10734/dicer1 id: MONDO:0100217 name: developmental delay with short stature, dysmorphic facial features, and sparse hair 2 def: "Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene." [MONDO:patterns/disease_series_by_gene] -synonym: "DEDSSH2" EXACT ABBREVIATION [OMIM:620062] -synonym: "diphthamide deficiency syndrome 2" EXACT [OMIM:620062] +synonym: "DEDSSH2" EXACT ABBREVIATION [DOID:0070478, OMIM:620062] +synonym: "diphthamide deficiency syndrome 2" EXACT [DOID:0070478, OMIM:620062] xref: DOID:0070478 {source="MONDO:equivalentTo"} xref: MEDGEN:1823996 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620062 {source="MONDO:equivalentTo"} @@ -538314,7 +538410,7 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "GHISID2" EXACT ABBREVIATION [OMIM:618985] synonym: "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT" EXACT [OMIM:618985] -synonym: "growth hormone insensitivity with immune dysregulation 2, autosomal dominant" EXACT [OMIM:618985, OMIM:genemap2] +synonym: "growth hormone insensitivity with immune dysregulation 2, autosomal dominant" EXACT [] xref: DOID:0080837 {source="MONDO:equivalentTo"} xref: GARD:18312 {source="MONDO:GARD"} xref: MEDGEN:1723138 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -538349,7 +538445,7 @@ subset: gard_rare {source="GARD:16402", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "ichthyosis , follicular, with atrichia and photophobia syndrome 2" EXACT [OMIM:619016, OMIM:genemap2] +synonym: "ichthyosis , follicular, with atrichia and photophobia syndrome 2" EXACT [] synonym: "ichthyosis follicularis, atrichia, and photophobia syndrome 2" EXACT [OMIM:619016] synonym: "IFAP SYNDROME 2" EXACT [OMIM:619016] synonym: "IFAP2" EXACT ABBREVIATION [OMIM:619016] @@ -538394,9 +538490,9 @@ id: MONDO:0100224 name: mitochondrial complex I deficiency, nuclear type 1 subset: gard_rare {source="GARD:15201", source="MONDO:GARD"} subset: rare -synonym: "MC1DN1" EXACT ABBREVIATION [OMIM:252010] -synonym: "mitochondrial complex 1 deficiency" BROAD [OMIM:252010] -synonym: "mitochondrial complex I deficiency" BROAD [OMIM:252010] +synonym: "MC1DN1" EXACT ABBREVIATION [DOID:0112074, OMIM:252010] +synonym: "mitochondrial complex 1 deficiency" BROAD [] +synonym: "mitochondrial complex I deficiency" BROAD [] synonym: "mitochondrial complex I deficiency, nuclear type 1" EXACT CLINGEN_LABEL [] synonym: "mitochondrial NADH dehydrogenase component of Complex I, deficiency of" EXACT [OMIM:252010] synonym: "NADH-coenzyme Q reductase deficiency" EXACT [OMIM:252010] @@ -538442,9 +538538,9 @@ id: MONDO:0100226 name: parasomnia, sleepwalking type def: "A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%)." [OMIM:613938] comment: Editor note: Consider splitting this into a separate Mendelian form of this disease that is equivalent to the OMIM term. -synonym: "parasomnia, sleep terrors type" RELATED [OMIM:613938] +synonym: "parasomnia, sleep terrors type" RELATED [] synonym: "parasomnia, sleepwalking type" EXACT [OMIM:613938] -synonym: "parasomnia, sleepwalking type, multifactorial" EXACT [OMIM:613938, OMIM:genemap2] +synonym: "parasomnia, sleepwalking type, multifactorial" EXACT [] synonym: "PSMNSW" EXACT ABBREVIATION [MONDO:0013494, MONDO:Lexical, OMIM:613938] synonym: "sleep walking" BROAD [https://orcid.org/0000-0002-8169-9049, OMOP:377535, SCTID:80495009] synonym: "sleep walking disorder" BROAD [https://orcid.org/0000-0002-8169-9049, OMOP:377535, SCTID:80495009] @@ -538500,7 +538596,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:3220"} synonym: "bilateral sensorineural hearing loss, enamel hypoplasia and nail defects" RELATED [GARD:0001687] synonym: "deafness enamel hypoplasia nail defects" RELATED [GARD:0001687] synonym: "deafness-enamel hypoplasia-nail defects syndrome" EXACT [MONDO:0009325] -synonym: "Heimler syndrome" EXACT [Orphanet:3220] +synonym: "Heimler syndrome" EXACT [] synonym: "sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" RELATED [GARD:0001687] xref: MESH:C535994 {source="MONDO:obsoleteEquivalent", source="Orphanet:3220/e", source="Orphanet:3220"} xref: Orphanet:3220 {source="OMIM:234580", source="MONDO:obsoleteEquivalent"} @@ -538531,10 +538627,10 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100231 name: psoriatic arthritis, susceptibility to, 1 def: "A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement." [MONDO:patterns/susceptibility_by_gene, OMIM:607507] -synonym: "PSORAS1" EXACT ABBREVIATION [OMIM:607507] +synonym: "PSORAS1" EXACT ABBREVIATION [] synonym: "psoriatic arthritis susceptibility caused by LTA" EXACT [MONDO:patterns/susceptibility_by_gene] -synonym: "psoriatic arthritis, susceptibility to" BROAD [OMIM:607507, OMIM:genemap2] -synonym: "psoriatic arthritis, susceptibility to, 1" EXACT [OMIM:607507] +synonym: "psoriatic arthritis, susceptibility to" BROAD [] +synonym: "psoriatic arthritis, susceptibility to, 1" EXACT [] xref: MEDGEN:375279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607507 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1843772 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:375279"} @@ -538551,7 +538647,7 @@ id: MONDO:0100232 name: psoriatic arthritis, susceptibility to def: "An inherited susceptibility or predisposition to developing psoriatic arthritis." [MONDO:patterns/inherited_susceptibility] synonym: "psoriatic arthritis, susceptibility" EXACT [MONDO:patterns/inherited_susceptibility] -synonym: "psoriatic arthritis, susceptibility to" EXACT [MONDO:patterns/inherited_susceptibility] +synonym: "psoriatic arthritis, susceptibility to" EXACT [MONDO:patterns/inherited_susceptibility, OMIM:607507] xref: MEDGEN:322604 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607507 {source="MONDO:equivalentTo"} xref: UMLS:C1835223 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:322604"} @@ -538565,9 +538661,9 @@ name: long COVID-19 def: "A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction." [https://twitter.com/simoncgordon/status/1321135109572091905, PMID:32644129, PMID:32788251] synonym: "long haul COVID-19" EXACT [PMID:32644129, PMID:32788251] synonym: "long-haul COVID-19" EXACT [PMID:32644129, PMID:32788251] -synonym: "PASC" EXACT ABBREVIATION [PMID:33791733] -synonym: "post-acute sequelae of COVID-19" EXACT [PMID:33791733] -synonym: "post-acute sequelae of SARS-CoV-2 infection" EXACT [https://orcid.org/0000-0002-4142-7153, https://www.nih.gov/about-nih/who-we-are/nih-director/statements/nih-launches-new-initiative-study-long-covid] +synonym: "PASC" EXACT ABBREVIATION [DOID:0080848, NCIT:C179263, PMID:33791733] +synonym: "post-acute sequelae of COVID-19" EXACT [NCIT:C179263, PMID:33791733] +synonym: "post-acute sequelae of SARS-CoV-2 infection" EXACT [DOID:0080848, https://orcid.org/0000-0002-4142-7153, https://www.nih.gov/about-nih/who-we-are/nih-director/statements/nih-launches-new-initiative-study-long-covid] synonym: "sequelae of COVID-19" EXACT [PMID:33791733] xref: DOID:0080848 {source="MONDO:equivalentTo"} xref: MedDRA:10085503 {source="MONDO:relatedTo"} @@ -538706,8 +538802,8 @@ name: glioma susceptibility def: "An inherited susceptibility or predisposition to developing glioma." [OMIMPS:137800] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glioma, susceptibility" EXACT [OMIMPS:137800] -synonym: "glioma, susceptibility to" EXACT [OMIMPS:137800] +synonym: "glioma, susceptibility" EXACT [] +synonym: "glioma, susceptibility to" EXACT [] xref: OMIMPS:137800 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIMPS:137800"} ! inherited disease susceptibility intersection_of: MONDO:0020573 ! inherited disease susceptibility @@ -538736,9 +538832,9 @@ subset: rare synonym: "acquired paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:0100245] synonym: "hereditary paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:patterns/hereditary] synonym: "inherited paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:0100243] -synonym: "Marchiafava-Micheli disease" EXACT [Orphanet:447] +synonym: "Marchiafava-Micheli disease" EXACT [icd11.foundation:859588467, Orphanet:447] synonym: "paroxysmal hemoglobinuria" EXACT [NCIT:C61233] -synonym: "PNH" EXACT ABBREVIATION [Orphanet:447] +synonym: "PNH" EXACT ABBREVIATION [NCIT:C61233, Orphanet:447] xref: DOID:0060284 {source="MONDO:equivalentTo"} xref: GARD:7337 {source="MONDO:GARD"} xref: HGNC:8957 {source="GARD:0007337"} @@ -538788,7 +538884,7 @@ id: MONDO:0100246 name: migraine with or without aura, susceptibility to def: "An inherited susceptibility or predisposition to developing migraines with or without aura." [MONDO:patterns/inherited_susceptibility] synonym: "migraine with or without aura, susceptibility" EXACT [MONDO:patterns/inherited_susceptibility] -synonym: "migraine with or without aura, susceptibility to" EXACT [MONDO:patterns/inherited_susceptibility] +synonym: "migraine with or without aura, susceptibility to" EXACT [MONDO:patterns/inherited_susceptibility, OMIMPS:157300] xref: OMIMPS:157300 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="OMIMPS:157300"} ! inherited disease susceptibility relationship: has_characteristic MONDO:0021152 {source="OMIMPS:157300"} ! inherited @@ -538831,14 +538927,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "46, XX gonadal sex reversal" RELATED [GARD:0000399] synonym: "46,XX testicular differences of sex development" EXACT [NCIT:C127170] -synonym: "46,XX testicular disorder of sex development" EXACT [OMIM:400045] +synonym: "46,XX testicular disorder of sex development" EXACT [DOID:0111760, icd11.foundation:1357942532, Orphanet:393] synonym: "46,XX testicular disorders of Sex development" EXACT [NCIT:C127170] -synonym: "46,XX testicular DSD" EXACT [Orphanet:393] -synonym: "De la Chapelle syndrome" EXACT [Orphanet:393] +synonym: "46,XX testicular DSD" EXACT [DOID:0111760, icd11.foundation:1357942532, NCIT:C127170, Orphanet:393] +synonym: "De la Chapelle syndrome" EXACT [DOID:0111760, icd11.foundation:1357942532, Orphanet:393] synonym: "XX male syndrome" RELATED [GARD:0000399] -synonym: "XX Male, Sry-positive" RELATED [OMIM:400045] +synonym: "XX Male, Sry-positive" RELATED [] synonym: "XX sex reversal" RELATED [GARD:0000399] -synonym: "XX, male syndrome" EXACT [Orphanet:393] +synonym: "XX, male syndrome" EXACT [DOID:0111760, Orphanet:393] xref: DOID:0111760 {source="MONDO:equivalentTo"} xref: GARD:399 {source="MONDO:GARD"} xref: ICD10CM:Q99.1 {source="Orphanet:393", source="Orphanet:393/attributed", source="Orphanet:393/ntbt"} @@ -538860,14 +538956,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "46,XX gonadal dysgenesis, complete, SRY-positive" EXACT [OMIM:400045] -synonym: "46,XX SEX reversal 1" EXACT [MONDO:Lexical, OMIM:400045] -synonym: "46,XX Sex reversal type 1" EXACT [MONDORULE:1, OMIM:400045] +synonym: "46,XX SEX reversal 1" EXACT [DOID:0111761, MONDO:Lexical, NCIT:C179867, OMIM:400045] +synonym: "46,XX Sex reversal type 1" EXACT [MONDORULE:1] synonym: "46,XX Sex reversal, SRY-positive" EXACT [OMIM:400045] -synonym: "46,XX true hermaphroditism, SRY-positive" RELATED [OMIM:400045] -synonym: "46XX sex reversal 1, X-linked dominant" EXACT [OMIM:400045, OMIM:genemap2] -synonym: "ovotesticular disorder of sex development" BROAD [OMIM:400045] -synonym: "ovotesticular DSD" BROAD [OMIM:400045] -synonym: "SRXX1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:400045] +synonym: "46,XX true hermaphroditism, SRY-positive" RELATED [] +synonym: "46XX sex reversal 1, X-linked dominant" EXACT [] +synonym: "ovotesticular disorder of sex development" BROAD [] +synonym: "ovotesticular DSD" BROAD [] +synonym: "SRXX1" EXACT ABBREVIATION [DOID:0111761, MONDO:Lexical, NCIT:C179867, OMIM:400045] xref: DOID:0111761 {source="MONDO:equivalentTo"} xref: MEDGEN:411324 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C179867 {source="MONDO:equivalentTo"} @@ -538886,16 +538982,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:306661"} subset: rare synonym: "cortical hyperostosis with hyperphosphatemia" EXACT [DOID:0111063] -synonym: "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" EXACT [DOID:0111063] +synonym: "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" EXACT [DOID:0111063, Orphanet:306661] synonym: "familial Teutschlaender disease" EXACT [DOID:0111063] -synonym: "HFTC" EXACT ABBREVIATION [DOID:0111063, MONDO:Lexical, OMIM:211900] -synonym: "HHS" BROAD ABBREVIATION [DOID:0111063] +synonym: "HFTC" EXACT ABBREVIATION [DOID:0111063, MONDO:Lexical] +synonym: "HHS" BROAD ABBREVIATION [] synonym: "hypercalcemic tumoral calcinosis" EXACT [DOID:0111063, Orphanet:306661] -synonym: "hyperostosis with hyperphosphatemia" EXACT [DOID:0111063, OMIM:211900] +synonym: "hyperostosis with hyperphosphatemia" EXACT [DOID:0111063] synonym: "hyperphosphatemia hyperostosis" EXACT [DOID:0111063] synonym: "hyperphosphatemia hyperostosis syndrome" EXACT [DOID:0111063] synonym: "hyperphosphatemia tumoral calcinosis" EXACT [DOID:0111063] -synonym: "hyperphosphatemic familial tumoral calcinosis" EXACT [NCIT:C131851] +synonym: "hyperphosphatemic familial tumoral calcinosis" EXACT [DOID:0111063, NCIT:C131851] synonym: "lipocalcinogranulomatosis" EXACT [DOID:0111063] synonym: "morbus Teutschlaender" EXACT [DOID:0111063] synonym: "PHPTC" EXACT ABBREVIATION [DOID:0111063] @@ -538924,7 +539020,7 @@ subset: gard_rare {source="GARD:15146", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "calcinosis, tumoral, with hyperphosphatemia" EXACT [OMIM:211900] -synonym: "HFTC" BROAD ABBREVIATION [OMIM:211900] +synonym: "HFTC" BROAD ABBREVIATION [] synonym: "HFTC1" EXACT ABBREVIATION [OMIM:211900] synonym: "hyperostosis-hyperphosphatemia syndrome" EXACT [OMIM:211900] synonym: "Morbus Teutschlaender" EXACT [OMIM:211900] @@ -538932,7 +539028,7 @@ synonym: "Teutschlaender disease, familial" EXACT [OMIM:211900] synonym: "tumoral calcinosis, hyperphosphatemic, familial" EXACT [MONDO:Lexical, OMIM:211900] synonym: "tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1" EXACT [OMIM:211900] synonym: "tumoral calcinosis, Hyperphosphatemic, familial, 1" EXACT [OMIM:211900] -synonym: "tumoral calcinosis, hyperphosphatemic, familial, 1" EXACT CLINGEN_LABEL [] +synonym: "tumoral calcinosis, hyperphosphatemic, familial, 1" EXACT CLINGEN_LABEL [OMIM:211900] synonym: "tumoral calcinosis, primary Hyperphosphatemic" EXACT [OMIM:211900] xref: GARD:15146 {source="MONDO:GARD"} xref: MEDGEN:1642611 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -538957,19 +539053,19 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Appelt-Gerken-Lenz syndrome" EXACT [GARD:0007387] synonym: "ESCO2 spectrum disorder" EXACT [https://orcid.org/0000-0001-9310-0163, PMID:20301332] -synonym: "hypomelia hypotrichosis facial hemangioma syndrome" EXACT [DOID:0050536] +synonym: "hypomelia hypotrichosis facial hemangioma syndrome" EXACT [NCIT:C4681] synonym: "long bone deficiencies associated with cleft lip-palate" EXACT [DOID:5325, OMIM:268300] synonym: "phocomelia-pseudothalidomide syndrome" EXACT [NCIT:C4681] synonym: "pseudothalidomide syndrome" EXACT [NCIT:C4681, Orphanet:3103] -synonym: "RBS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:268300] -synonym: "Roberts syndrome" EXACT [MONDO:0009997] +synonym: "RBS" EXACT ABBREVIATION [DOID:5325, MONDO:Lexical, OMIM:268300] +synonym: "Roberts syndrome" EXACT [DOID:5325, MONDO:0009997, OMIM:268300, Orphanet:3103] synonym: "Roberts syndrome/SC phocomelia" EXACT [GARD:0007387] synonym: "Roberts tetraphocomelia syndrome" EXACT [GARD:0007387] -synonym: "Roberts-SC phocomelia syndrome" EXACT CLINGEN_LABEL [NCIT:C4681, Orphanet:3103] -synonym: "SC phocomelia" NARROW [Orphanet:3103] -synonym: "SC phocomelia syndrome" EXACT [MONDO:0100282] +synonym: "Roberts-SC phocomelia syndrome" EXACT CLINGEN_LABEL [DOID:5325, NCIT:C4681, OMIM:268300, Orphanet:3103] +synonym: "SC phocomelia" NARROW [] +synonym: "SC phocomelia syndrome" EXACT [DOID:5325, MONDO:0100282, NCIT:C4681, OMIM:268300] synonym: "SC phocomelia syndrome (mild variant of Roberts syndrome)" NARROW [GARD:0007387] -synonym: "SC pseudothalidomide syndrome" NARROW [DOID:0050536, Orphanet:3103] +synonym: "SC pseudothalidomide syndrome" NARROW [] synonym: "tetraphocomelia-cleft palate syndrome" EXACT [GARD:0007387] xref: DOID:0050536 {source="MONDO:equivalentObsolete"} xref: DOID:5325 {source="MONDO:equivalentTo"} @@ -539027,15 +539123,15 @@ subset: rare synonym: "adenosine kinase deficiency" EXACT CLINGEN_LABEL [https://www.clinicalgenome.org/affiliation/40011/] synonym: "ADK deficiency" EXACT [https://www.clinicalgenome.org/affiliation/40011/, PMID:30477030, PMID:33309011] synonym: "ADK hypermethioninemia" EXACT [DOID:0111038, Orphanet:289290] -synonym: "autosomal recessive intellectual disability 8" EXACT [DOID:0111038] +synonym: "autosomal recessive intellectual disability 8" EXACT [] synonym: "autosomal recessive mental retardation 8" EXACT DEPRECATED [DOID:0111038] -synonym: "hypermethioninemia due to adenosine kinase deficiency" EXACT [OMIM:614300] -synonym: "hypermethioninemia encephalopathy due to adenosine kinase deficiency" EXACT [DOID:0111038] +synonym: "hypermethioninemia due to adenosine kinase deficiency" EXACT [DOID:0111038, OMIM:614300] +synonym: "hypermethioninemia encephalopathy due to adenosine kinase deficiency" EXACT [DOID:0111038, Orphanet:289290] synonym: "hypermethioninemia encephalopathy due to ADK deficiency" EXACT [DOID:0111038, Orphanet:289290] -synonym: "mental retardation, autosomal recessive 8" RELATED DEPRECATED [MONDO:Lexical, OMIM:611094] -synonym: "mental retardation, autosomal recessive 8, formerly" RELATED DEPRECATED [OMIM:614300] -synonym: "mental retardation, autosomal recessive 8; MRT8" RELATED DEPRECATED [OMIM:611094] -synonym: "MRT8" EXACT DEPRECATED [DOID:0111038, MONDO:Lexical, OMIM:611094] +synonym: "mental retardation, autosomal recessive 8" RELATED DEPRECATED [MONDO:Lexical] +synonym: "mental retardation, autosomal recessive 8, formerly" RELATED DEPRECATED [] +synonym: "mental retardation, autosomal recessive 8; MRT8" RELATED DEPRECATED [] +synonym: "MRT8" EXACT DEPRECATED [DOID:0111038, MONDO:Lexical] xref: DOID:0111038 {source="MONDO:equivalentTo"} xref: GARD:17321 {source="MONDO:GARD"} xref: ICD10CM:E72.1 {source="Orphanet:289290", source="Orphanet:289290/attributed", source="Orphanet:289290/ntbt", source="DOID:0111038"} @@ -539409,13 +539505,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "lymphoplasmacytic lymphoma with IgM gammopathy" EXACT [DOID:0060901] synonym: "macroglobulinemia of Waldenstrom" RELATED [GARD:0007872] -synonym: "Waldenstroem's macroglobulinemia" RELATED [DOID:0060901] -synonym: "Waldenstrom macroglobulinemia" EXACT [MONDO:0007926, NCIT:C80307] +synonym: "Waldenstroem's macroglobulinemia" RELATED [] +synonym: "Waldenstrom macroglobulinemia" EXACT [DOID:0060901, MONDO:0007926, NCIT:C80307] synonym: "Waldenstrom's macroglobulinaemia" RELATED [GARD:0007872] synonym: "Waldenstrom's macroglobulinemia" EXACT [NCIT:C80307] synonym: "Waldenstrom's syndrome" RELATED [GARD:0007872] -synonym: "Waldenström Macroglobulinemia" EXACT [NORD:1834] -synonym: "Waldenström macroglobulinemia" EXACT [NCIT:C80307] +synonym: "Waldenström Macroglobulinemia" EXACT [NCIT:C80307, NORD:1834, Orphanet:33226] +synonym: "Waldenström macroglobulinemia" EXACT [NCIT:C80307, Orphanet:33226] xref: DOID:0060901 {source="MONDO:equivalentTo"} xref: EFO:0009441 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:7872 {source="MONDO:GARD"} @@ -539442,7 +539538,7 @@ name: macroglobulinemia, Waldenstrom, 1 subset: gard_rare {source="MONDO:GARD"} subset: predisposition subset: rare -synonym: "macroglobulinemia, Waldenstrom, somatic" EXACT [OMIM:153600] +synonym: "macroglobulinemia, Waldenstrom, somatic" EXACT [] synonym: "macroglobulinemia, waldenstrom, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:153600] synonym: "WM1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:153600] xref: MEDGEN:320546 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -539499,7 +539595,7 @@ subset: gard_rare {source="GARD:886", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "biliary atresia, extrahepatic" EXACT [MONDO:Lexical, OMIM:210500] -synonym: "EHBA" EXACT [http://purl.obolibrary.org/obo/mondo#ABBREVIATION, MONDO:Lexical, OMIM:210500] +synonym: "EHBA" EXACT ABBREVIATION [http://purl.obolibrary.org/obo/mondo#ABBREVIATION, MONDO:Lexical, OMIM:210500] xref: GARD:886 {source="MONDO:GARD"} xref: icd11.foundation:1813934523 {source="MONDO:equivalentTo"} xref: MEDGEN:1621383 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -539546,9 +539642,9 @@ def: "An autosomal recessive retinopathy in which patients have increased sensit subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "enhanced S-cone syndrome" EXACT [MONDO:Lexical, OMIM:268100] -synonym: "ESCS" RELATED ABBREVIATION [MONDO:Lexical, OMIM:268100] -synonym: "retinoschisis with early nyctalopia" RELATED [Orphanet:53540] +synonym: "enhanced S-cone syndrome" EXACT [DOID:0090059, MONDO:Lexical, OMIM:268100] +synonym: "ESCS" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "retinoschisis with early nyctalopia" RELATED [] xref: DOID:0090059 {source="MONDO:equivalentTo"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:53540/attributed", source="Orphanet:53540/ntbt", source="Orphanet:53540"} xref: MEDGEN:341446 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -539571,7 +539667,7 @@ subset: ordo_disorder {source="Orphanet:53540"} subset: orphanet_rare {source="Orphanet:53540"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Favre hyaloideoretinal Degeneration" RELATED [OMIM:268100] +synonym: "Favre hyaloideoretinal Degeneration" RELATED [] synonym: "retinoschisis with early nyctalopia" EXACT [Orphanet:53540] xref: GARD:10781 {source="MONDO:GARD"} xref: ICD10CM:H35.5 {source="MONDO:relatedTo", source="Orphanet:53540/attributed", source="Orphanet:53540/ntbt", source="Orphanet:53540"} @@ -539613,7 +539709,7 @@ synonym: "early T-cell precursor acute lymphoblastic leukemia" EXACT [NCIT:C1300 synonym: "early T-cell precursor lymphoblastic leukaemia" EXACT OMO:0003005 [] synonym: "early T-cell precursor lymphoblastic leukemia" EXACT [NCIT:C130043] synonym: "ETP ALL" EXACT [NCIT:C130043] -synonym: "ETP-ALL" EXACT [NCIT:C130043] +synonym: "ETP-ALL" EXACT ABBREVIATION [NCIT:C130043] xref: MEDGEN:1385175 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C130043 {source="MONDO:equivalentTo"} xref: UMLS:C4329780 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1385175"} @@ -539659,13 +539755,13 @@ subset: rare synonym: "complex 2 mitochondrial respiratory chain deficiency" RELATED [GARD:0005053] synonym: "isolated mitochondrial respiratory chain complex II deficiency" EXACT [DOID:0060537, Orphanet:3208] synonym: "isolated succinate-coenzyme Q reductase deficiency" EXACT [DOID:0060537, Orphanet:3208] -synonym: "isolated succinate-CoQ reductase deficiency" EXACT [DOID:0060537] +synonym: "isolated succinate-CoQ reductase deficiency" EXACT [DOID:0060537, Orphanet:3208] synonym: "isolated succinate-ubiquinone reductase deficiency" EXACT [DOID:0060537, Orphanet:3208] -synonym: "mitochondrial complex 2 deficiency" RELATED [OMIM:252011] -synonym: "mitochondrial complex II deficiency" EXACT [OMIM:252011] +synonym: "mitochondrial complex 2 deficiency" RELATED [] +synonym: "mitochondrial complex II deficiency" EXACT [DOID:0060537] synonym: "mitochondrial complex II deficiency, nuclear type 1" EXACT CLINGEN_LABEL [] synonym: "mitochondrial respiratory chain complex II deficiency" RELATED [GARD:0005053] -synonym: "succinate CoQ reductase deficiency" RELATED [OMIM:252011] +synonym: "succinate CoQ reductase deficiency" RELATED [] synonym: "succinate dehydrogenase deficiency" RELATED [GARD:0005053] xref: DOID:0060537 {source="MONDO:equivalentTo"} xref: GARD:5053 {source="MONDO:GARD"} @@ -539702,7 +539798,7 @@ subset: gard_rare {source="GARD:15818", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Olmsted syndrome" BROAD [Orphanet:659] +synonym: "Olmsted syndrome" BROAD [] synonym: "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1" EXACT [MONDO:0019014, OMIM:614594] xref: DOID:0112013 {source="MONDO:equivalentTo"} xref: GARD:15818 {source="MONDO:GARD"} @@ -539716,8 +539812,8 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 [Term] id: MONDO:0100297 name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 -synonym: "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" RELATED [OMIM:617877] -synonym: "SSFSC" RELATED ABBREVIATION [OMIM:617877] +synonym: "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" RELATED [] +synonym: "SSFSC" RELATED ABBREVIATION [] xref: MEDGEN:1778119 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617877 {source="MONDO:equivalentTo"} xref: UMLS:C5542952 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1778119"} @@ -539876,7 +539972,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_group_of_disorders {source="Orphanet:183518"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "rare hereditary ataxia" EXACT [MONDO:0015956, Orphanet:183518] +synonym: "rare hereditary ataxia" EXACT [MONDO:0015956] synonym: "SCA" RELATED ABBREVIATION [GARD:0010748] xref: DOID:0050951 {source="MONDO:equivalentTo"} xref: EFO:0009671 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -539944,10 +540040,10 @@ subset: gard_rare {source="GARD:6517", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "FGS" EXACT ABBREVIATION [DOID:1312] -synonym: "FGS (focal glomerular sclerosis)" EXACT [DOID:1312] +synonym: "FGS (focal glomerular sclerosis)" EXACT [] synonym: "focal glomerular sclerosis" EXACT [DOID:1312] synonym: "focal glomerulosclerosis" EXACT [DOID:1312] -synonym: "FSGS" EXACT ABBREVIATION [DOID:1312] +synonym: "FSGS" EXACT ABBREVIATION [DOID:1312, NCIT:C37308] synonym: "FSGS - focal segmental glomerulosclerosis" EXACT [NCIT:C37308] xref: DOID:1312 {source="EFO:0004236", source="MONDO:equivalentTo"} xref: EFO:0004236 {source="MONDO:equivalentTo", source="MONDO:EFO"} @@ -539989,11 +540085,11 @@ name: long QT syndrome 1 subset: gard_rare {source="MONDO:GARD"} subset: prototype_pattern subset: rare -synonym: "long QT syndrome 1" EXACT CLINGEN_LABEL [MONDO:0008646, MONDO:Lexical, OMIM:192500] -synonym: "long QT syndrome 1, acquired, susceptibility to" RELATED [OMIM:192500] -synonym: "long QT syndrome 1/2, digenic" RELATED [OMIM:192500] -synonym: "long QT syndrome type 1" EXACT [DOID:0110644, MONDORULE:1, OMIM:192500] -synonym: "LQT1" EXACT ABBREVIATION [DOID:0110644, MONDO:Lexical, OMIM:192500] +synonym: "long QT syndrome 1" EXACT CLINGEN_LABEL [DOID:0110644, MONDO:0008646, MONDO:Lexical, NCIT:C85049, OMIM:192500] +synonym: "long QT syndrome 1, acquired, susceptibility to" RELATED [] +synonym: "long QT syndrome 1/2, digenic" RELATED [] +synonym: "long QT syndrome type 1" EXACT [MONDORULE:1] +synonym: "LQT1" EXACT ABBREVIATION [DOID:0110644, MONDO:Lexical, NCIT:C85049, OMIM:192500] synonym: "ventricular fibrillation with prolonged QT interval" EXACT [DOID:0110644, OMIM:192500] xref: DOID:0110644 {source="MONDO:equivalentTo"} xref: ICD10CM:I45.8 {source="DOID:0110644", source="Orphanet:101016/attributed", source="Orphanet:101016/ntbt", source="Orphanet:101016"} @@ -540121,9 +540217,9 @@ subset: rare synonym: "chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome" EXACT [Orphanet:166272] synonym: "Goldblatt chondrodysplasia" EXACT [Orphanet:166272] synonym: "Goldblatt syndrome" EXACT [OMIM:184260, Orphanet:166272] -synonym: "ODCD" EXACT ABBREVIATION [Orphanet:166272] -synonym: "odontochondrodysplasia" BROAD [OMIM:184260] -synonym: "spondylometaphyseal dysplasia with dentinogenesis imperfecta" RELATED [OMIM:184260] +synonym: "ODCD" EXACT ABBREVIATION [OMIM:184260, Orphanet:166272] +synonym: "odontochondrodysplasia" BROAD [] +synonym: "spondylometaphyseal dysplasia with dentinogenesis imperfecta" RELATED [] xref: GARD:8717 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:166272/attributed", source="Orphanet:166272/ntbt", source="Orphanet:166272"} xref: MEDGEN:1784281 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -540147,7 +540243,7 @@ subset: ordo_disorder {source="Orphanet:849"} subset: orphanet_rare {source="Orphanet:849"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Glanzmann thrombasthenia" EXACT CLINGEN_LABEL [] +synonym: "Glanzmann thrombasthenia" EXACT CLINGEN_LABEL [icd11.foundation:1927726560, OMIMPS:273800, Orphanet:849] xref: GARD:2478 {source="MONDO:GARD"} xref: icd11.foundation:1927726560 {source="MONDO:equivalentTo"} xref: MEDGEN:52736 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -540168,7 +540264,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial hypercholanemia" EXACT [MONDO:0011905] -synonym: "hypercholanemia, familial" EXACT [MONDO:Lexical, OMIM:607748] +synonym: "hypercholanemia, familial" EXACT [MONDO:Lexical, OMIMPS:607748] xref: MEDGEN:334689 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:607748 {source="MONDO:equivalentTo"} xref: UMLS:C1843139 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334689"} @@ -540291,12 +540387,12 @@ subset: ordo_disorder {source="Orphanet:95"} subset: orphanet_rare {source="Orphanet:95"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "FA" EXACT ABBREVIATION [OMIM:229300, Orphanet:95] -synonym: "FRDA" EXACT ABBREVIATION [MONDO:Lexical, OMIM:229300, Orphanet:95] -synonym: "Friedreich ataxia" EXACT CLINGEN_LABEL [MONDO:0009245] -synonym: "Friedreich ataxia with retained reflexes" RELATED [OMIM:229300] -synonym: "Friedreich's Ataxia" EXACT [NORD:818] -synonym: "Friedreich's ataxia" EXACT [DOID:12705, ICD9CM:334.0] +synonym: "FA" EXACT ABBREVIATION [Orphanet:95] +synonym: "FRDA" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:95] +synonym: "Friedreich ataxia" EXACT CLINGEN_LABEL [DOID:12705, icd11.foundation:980686666, MONDO:0009245, NCIT:C84718, Orphanet:95] +synonym: "Friedreich ataxia with retained reflexes" RELATED [] +synonym: "Friedreich's Ataxia" EXACT [DOID:12705, NCIT:C84718, NORD:818] +synonym: "Friedreich's ataxia" EXACT [DOID:12705, ICD9CM:334.0, NCIT:C84718] synonym: "Friedreich's tabes" EXACT [DOID:12705] synonym: "hereditary spinal ataxia" RELATED [GARD:0006468] synonym: "hereditary spinal sclerosis" RELATED [GARD:0006468] @@ -540330,10 +540426,10 @@ def: "Any Friedreich ataxia in which the cause of the disease is a mutation in t subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "FRDA1" EXACT [OMIM:229300] -synonym: "Friedreich ataxia" BROAD [OMIM:229300, OMIM:genemap2] -synonym: "Friedreich ataxia 1" EXACT CLINGEN_LABEL [DOID:12705, MONDO:Lexical, OMIM:229300] -synonym: "Friedreich ataxia type 1" EXACT [MONDORULE:1, OMIM:229300] +synonym: "FRDA1" EXACT ABBREVIATION [DOID:0111218] +synonym: "Friedreich ataxia" BROAD [] +synonym: "Friedreich ataxia 1" EXACT CLINGEN_LABEL [DOID:0111218, MONDO:Lexical, OMIM:229300] +synonym: "Friedreich ataxia type 1" EXACT [MONDORULE:1] xref: DOID:0111218 {source="MONDO:equivalentTo"} xref: MEDGEN:383962 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C565561 {source="MONDO:equivalentTo"} @@ -540365,18 +540461,18 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "glial cell tumor" EXACT [DOID:3070] synonym: "glial cell tumour" EXACT OMO:0003005 [] -synonym: "glioma" BROAD [Orphanet:182067] +synonym: "glioma" BROAD [] synonym: "glioma, malignant" EXACT [DOID:3070, MONDO:patterns/malignant, NCIT:C4822] -synonym: "high grade glioma" EXACT [NCIT:C4822] +synonym: "high grade glioma" EXACT [DOID:3070, NCIT:C4822] synonym: "high-grade glioma" EXACT [NCIT:C4822] synonym: "malignant glial neoplasm" EXACT [NCIT:C4822] synonym: "malignant glial tumor" EXACT [NCIT:C4822] synonym: "malignant glial tumour" EXACT OMO:0003005 [] -synonym: "malignant glioma" EXACT [NCIT:C4822] +synonym: "malignant glioma" EXACT [DOID:3070, NCIT:C4822] synonym: "malignant neuroglial neoplasm" EXACT [NCIT:C4822] synonym: "malignant neuroglial tumor" EXACT [DOID:3070, NCIT:C4822] synonym: "malignant neuroglial tumour" EXACT OMO:0003005 [] -synonym: "neuroglial tumor" BROAD [DOID:3070, NCIT:C3059] +synonym: "neuroglial tumor" BROAD [] synonym: "neuroglial tumour" BROAD OMO:0003005 [] xref: DOID:3070 {source="MONDO:equivalentTo"} xref: ICDO:9380/3 {source="NCIT:C4822"} @@ -540408,9 +540504,9 @@ id: MONDO:0100343 name: obsolete antenatal Bartter syndrome def: "OBSOLETE. A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome." [Orphanet:93604] subset: otar {source="MONDO:OTAR"} -synonym: "Bartter syndrome, furosemide type" EXACT [Orphanet:93604] -synonym: "Bartter syndrome, furosemide-amiloride type" EXACT [Orphanet:93604] -synonym: "hyperprostaglandin E syndrome" EXACT [Orphanet:93604] +synonym: "Bartter syndrome, furosemide type" EXACT [] +synonym: "Bartter syndrome, furosemide-amiloride type" EXACT [] +synonym: "hyperprostaglandin E syndrome" EXACT [] xref: Orphanet:93604 {source="MONDO:obsoleteEquivalentObsolete"} property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -540427,25 +540523,25 @@ subset: gard_rare {source="GARD:22482", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:620217"} subset: rare -synonym: "antenatal Bartter syndrome" RELATED [Orphanet:93604] +synonym: "antenatal Bartter syndrome" RELATED [] synonym: "antenatal Bartter syndrome type 1" RELATED [GARD:0000830] -synonym: "BARTS1" EXACT ABBREVIATION [DOID:0110142] -synonym: "Bartter disease type 1" EXACT [MONDO:0011127] +synonym: "BARTS1" EXACT ABBREVIATION [DOID:0110142, OMIM:601678] +synonym: "Bartter disease type 1" EXACT [DOID:0110142, MONDO:0011127] synonym: "Bartter syndrome antenatal type 1" RELATED [GARD:0000830] synonym: "Bartter syndrome caused by mutation in SLC12A1" EXACT [MONDO:design_pattern] synonym: "Bartter syndrome type 1" EXACT [DOID:0110142, Orphanet:620217] synonym: "Bartter syndrome type 1 antenatal" EXACT [DOID:0110142] -synonym: "Bartter syndrome, antenatal, type 1" RELATED [OMIM:601678] -synonym: "Bartter syndrome, furosemide type" BROAD [Orphanet:93604] -synonym: "Bartter syndrome, furosemide-amiloride type" BROAD [Orphanet:93604] -synonym: "Bartter syndrome, type 1" EXACT [OMIM:601678, OMIM:genemap2] -synonym: "Bartter syndrome, type 1, antenatal" RELATED [OMIM:601678] -synonym: "hyperprostaglandin E syndrome" BROAD [Orphanet:93604] +synonym: "Bartter syndrome, antenatal, type 1" RELATED [] +synonym: "Bartter syndrome, furosemide type" BROAD [] +synonym: "Bartter syndrome, furosemide-amiloride type" BROAD [] +synonym: "Bartter syndrome, type 1" EXACT [] +synonym: "Bartter syndrome, type 1, antenatal" RELATED [] +synonym: "hyperprostaglandin E syndrome" BROAD [] synonym: "hyperprostaglandin E syndrome 1" EXACT [DOID:0110142, GARD:0000830, OMIM:601678] synonym: "hypokalemic alkalosis with hypercalciuria 1 antenatal" EXACT [DOID:0110142] -synonym: "hypokalemic alkalosis with hypercalciuria 1, antenatal" RELATED [OMIM:601678] +synonym: "hypokalemic alkalosis with hypercalciuria 1, antenatal" RELATED [] synonym: "hypokalemic alkalosis with hypercalciuria antenatal 1" RELATED [GARD:0000830] -synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 1" RELATED [OMIM:601678] +synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 1" RELATED [] synonym: "SLC12A1 Bartter syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0110142 {source="MONDO:equivalentTo"} xref: GARD:22482 {source="MONDO:GARD"} @@ -540471,8 +540567,8 @@ name: lactose intolerance subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "lactase persistence" RELATED [OMIM:223100] -synonym: "lactose intolerance" EXACT [MONDO:ambiguous] +synonym: "lactase persistence" RELATED [] +synonym: "lactose intolerance" EXACT [DOID:10604, icd11.foundation:1026224967, MONDO:ambiguous, NCIT:C3154] synonym: "lactose intolerance (disease)" EXACT [https://orcid.org/0000-0002-6601-2165, MONDO:0009116] synonym: "LM - lactose malabsorption" EXACT [DOID:10604] xref: DOID:10604 {source="MONDO:equivalentTo"} @@ -540521,9 +540617,9 @@ subset: ordo_disorder {source="Orphanet:100093"} subset: orphanet_rare {source="Orphanet:100093"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "carcinoid syndrome" EXACT [MONDO:0006689, MONDO:0007262] +synonym: "carcinoid syndrome" EXACT [ICD10CM:E34.0, icd11.foundation:111763187, MONDO:0006689, MONDO:0007262, NCIT:C3215, Orphanet:100093] synonym: "carcinoid tumor syndrome" RELATED [GARD:0005994] -synonym: "carcinoid tumors, intestinal" RELATED [OMIM:114900] +synonym: "carcinoid tumors, intestinal" RELATED [] synonym: "carcinoid tumour syndrome" RELATED OMO:0003005 [] synonym: "malignant carcinoid syndrome" EXACT [Orphanet:100093] xref: DOID:8600 {source="EFO:1000852", source="MONDO:obsolete"} @@ -540556,8 +540652,8 @@ def: "An autosomal recessive disorder characterized by global developmental dela subset: gard_rare {source="GARD:18534", source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "NEDMILG, AR" EXACT ABBREVIATION [OMIM:619091] -synonym: "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive" EXACT [OMIM:619091, OMIM:genemap2] +synonym: "NEDMILG, AR" EXACT ABBREVIATION [] +synonym: "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive" EXACT [] xref: GARD:18534 {source="MONDO:GARD"} xref: MEDGEN:1731507 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619091 {source="MONDO:equivalentTo"} @@ -540581,10 +540677,10 @@ subset: orphanet_rare {source="Orphanet:1454"} subset: rare synonym: "cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis" RELATED [GARD:0001410] synonym: "cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis" EXACT [Orphanet:1454] -synonym: "gentile syndrome" EXACT [Orphanet:1454] -synonym: "Joubert syndrome with congenital hepatic fibrosis" EXACT [Orphanet:1454] -synonym: "Joubert syndrome with hepatic defect" EXACT [Orphanet:1454] -synonym: "JS-H" EXACT [Orphanet:1454] +synonym: "gentile syndrome" EXACT [DOID:0111589, Orphanet:1454] +synonym: "Joubert syndrome with congenital hepatic fibrosis" EXACT [DOID:0111589, Orphanet:1454] +synonym: "Joubert syndrome with hepatic defect" EXACT [DOID:0111589, Orphanet:1454] +synonym: "JS-H" EXACT ABBREVIATION [DOID:0111589, Orphanet:1454] xref: DOID:0111589 {source="MONDO:equivalentTo"} xref: GARD:1410 {source="MONDO:GARD"} xref: MEDGEN:387879 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -540608,9 +540704,9 @@ subset: ordo_disorder {source="Orphanet:139536"} subset: orphanet_rare {source="Orphanet:139536"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dHMN5" BROAD [Orphanet:139536] -synonym: "distal hereditary motor neuropathy type V" EXACT [Orphanet:139536] -synonym: "distal HMN V" EXACT [Orphanet:139536] +synonym: "dHMN5" BROAD [] +synonym: "distal hereditary motor neuropathy type V" EXACT [DOID:0111203, Orphanet:139536] +synonym: "distal HMN V" EXACT [DOID:0111203, Orphanet:139536] synonym: "distal spinal muscular atrophy type 5" EXACT [Orphanet:139536] xref: DOID:0111203 {source="MONDO:equivalentTo"} xref: GARD:16955 {source="MONDO:GARD"} @@ -540644,15 +540740,15 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "dystonia 10" RELATED [OMIM:128200] -synonym: "dystonia, familial paroxysmal" RELATED [OMIM:128200] +synonym: "dystonia 10" RELATED [] +synonym: "dystonia, familial paroxysmal" RELATED [] synonym: "DYT-PRRT2" RELATED [GARD:0008721] -synonym: "EKD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:128200] -synonym: "episodic kinesigenic dyskinesia 1" EXACT [MONDO:Lexical, OMIM:128200] +synonym: "EKD1" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "episodic kinesigenic dyskinesia 1" EXACT [DOID:0090053, MONDO:Lexical, OMIM:128200] synonym: "episodic kinesigenic dyskinesia caused by mutation in PRRT2" EXACT [MONDO:design_pattern] -synonym: "episodic kinesigenic dyskinesia type 1" EXACT [DOID:0090053, MONDORULE:1, OMIM:128200] -synonym: "paroxysmal kinesigenic choreoathetosis" RELATED [OMIM:128200] -synonym: "paroxysmal kinesigenic dyskinesia" RELATED [OMIM:128200] +synonym: "episodic kinesigenic dyskinesia type 1" EXACT [MONDORULE:1] +synonym: "paroxysmal kinesigenic choreoathetosis" RELATED [] +synonym: "paroxysmal kinesigenic dyskinesia" RELATED [] synonym: "PRRT2 episodic kinesigenic dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "PxMD-PRRT2" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] xref: DOID:0090053 {source="MONDO:equivalentTo"} @@ -540696,14 +540792,14 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "Berdon syndrome" EXACT [DOID:0060610, OMIM:249210, Orphanet:2241] synonym: "megacystis microcolon intestinal hypoperistalsis syndrome" BROAD [GARD:0003442] -synonym: "megacystis, microcolon, hypoperistalsis syndrome" BROAD [NCIT:C98982] -synonym: "megacystis, microcolon, intestinal hypoperistalsis syndrome" BROAD [NCIT:C98982] -synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome" BROAD [MONDO:0007960, OMIM:249210] -synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH" BROAD [DOID:0060610] -synonym: "megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" BROAD [Orphanet:2241] -synonym: "MMIH syndrome" BROAD [NCIT:C98982] -synonym: "MMIHS" BROAD ABBREVIATION [Orphanet:2241] -synonym: "visceral myopathy" RELATED EXCLUDE [DOID:0060610] +synonym: "megacystis, microcolon, hypoperistalsis syndrome" BROAD [] +synonym: "megacystis, microcolon, intestinal hypoperistalsis syndrome" BROAD [] +synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome" BROAD [MONDO:0007960] +synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH" BROAD [] +synonym: "megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" BROAD [] +synonym: "MMIH syndrome" BROAD [] +synonym: "MMIHS" BROAD ABBREVIATION [] +synonym: "visceral myopathy" RELATED EXCLUDE [] xref: DOID:0060610 {source="MONDO:equivalentTo"} xref: GARD:15195 {source="MONDO:GARD"} xref: ICD10CM:Q43.8 {source="DOID:0060610", source="Orphanet:2241/attributed", source="Orphanet:2241/ntbt", source="Orphanet:2241"} @@ -540868,17 +540964,17 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "amaurosis congenita of Leber 2" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:204100] -synonym: "amaurosis congenita of Leber II" NARROW [DOID:0110016, https://clinicalgenome.org/affiliation/40072/] +synonym: "amaurosis congenita of Leber 2" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "amaurosis congenita of Leber II" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "amaurosis congenita of Leber, type 2" NARROW [GARD:0000636, https://clinicalgenome.org/affiliation/40072/] -synonym: "LCA2" NARROW ABBREVIATION [DOID:0110016, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:204100] +synonym: "LCA2" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "Leber congenital amaurosis 2" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "Leber congenital amaurosis caused by mutation in RPE65" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 2" NARROW [DOID:0110016, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:204100] +synonym: "Leber congenital amaurosis type 2" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] synonym: "recessive RPE65 retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/] -synonym: "retinitis pigmentosa 20" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:613794] +synonym: "retinitis pigmentosa 20" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "retinitis pigmentosa caused by mutation in RPE65" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "RP20" NARROW ABBREVIATION [DOID:0110353, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:613794] +synonym: "RP20" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "RPE65 Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RPE65 retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RPE65-related recessive retinopathy" EXACT CLINGEN_LABEL [] @@ -540934,12 +541030,12 @@ name: acute myeloid leukemia, inv(16)(p13.1;q22) def: "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36373] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, inv(16)(p13.1;q22)" EXACT [NCIT:C36373] -synonym: "AML, inv(16)(p13.1;q22.1)" EXACT [NCIT:C36373] -synonym: "AML, inv(16)(p13.1q22)" EXACT [NCIT:C36373] -synonym: "AML, inv(16)(p13.1q22.1)" EXACT [NCIT:C36373] -synonym: "AML, inv(16)(p13;q22)" EXACT [NCIT:C36373] -synonym: "AML, inv(16)(p13q22)" EXACT [NCIT:C36373] +synonym: "AML, inv(16)(p13.1;q22)" EXACT [] +synonym: "AML, inv(16)(p13.1;q22.1)" EXACT [] +synonym: "AML, inv(16)(p13.1q22)" EXACT [] +synonym: "AML, inv(16)(p13.1q22.1)" EXACT [] +synonym: "AML, inv(16)(p13;q22)" EXACT [] +synonym: "AML, inv(16)(p13q22)" EXACT [] xref: NCIT:C36373 {source="MONDO:otherHierarchy"} xref: NCIT:C9018 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="NCIT:C36373"} ! acute myeloid leukemia @@ -540952,12 +541048,12 @@ name: acute myeloid leukemia, t(16;16)(p13.1;q22) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C27759] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(16;16)(p13.1;q22)" EXACT [NCIT:C27759] -synonym: "AML, t(16;16)(p13.1;q22.1)" EXACT [NCIT:C27759] -synonym: "AML, t(16;16)(p13.1q22)" EXACT [NCIT:C27759] -synonym: "AML, t(16;16)(p13.1q22.1)" EXACT [NCIT:C27759] -synonym: "AML, t(16;16)(p13;q22)" EXACT [NCIT:C27759] -synonym: "AML, t(16;16)(p13q22)" EXACT [NCIT:C27759] +synonym: "AML, t(16;16)(p13.1;q22)" EXACT [] +synonym: "AML, t(16;16)(p13.1;q22.1)" EXACT [] +synonym: "AML, t(16;16)(p13.1q22)" EXACT [] +synonym: "AML, t(16;16)(p13.1q22.1)" EXACT [] +synonym: "AML, t(16;16)(p13;q22)" EXACT [] +synonym: "AML, t(16;16)(p13q22)" EXACT [] xref: NCIT:C27759 {source="MONDO:otherHierarchy"} xref: NCIT:C9019 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="NCIT:C27759"} ! acute myeloid leukemia @@ -540970,9 +541066,9 @@ name: acute myeloid leukemia, t(15;17)(q24;q21) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C27758] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(15;17)(q22;q12)" EXACT [NCIT:C27758] -synonym: "AML, t(15;17)(q22;q21)" EXACT [NCIT:C27758] -synonym: "AML, t(15;17)(q24;q21)" EXACT [NCIT:C27758] +synonym: "AML, t(15;17)(q22;q12)" EXACT [] +synonym: "AML, t(15;17)(q22;q21)" EXACT [] +synonym: "AML, t(15;17)(q24;q21)" EXACT [] xref: NCIT:C27758 {source="MONDO:otherHierarchy"} xref: NCIT:C36055 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="NCIT:C27758"} ! acute myeloid leukemia @@ -540985,8 +541081,8 @@ name: acute myeloid leukemia, t(9;11)(p21.3;q23.3) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36370] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(9;11)(p21.3;q23.3)" EXACT [NCIT:C36370] -synonym: "AML, t(9;11)(p22;q23)" EXACT [NCIT:C36370] +synonym: "AML, t(9;11)(p21.3;q23.3)" EXACT [] +synonym: "AML, t(9;11)(p22;q23)" EXACT [] xref: NCIT:C36370 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36370"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -540999,7 +541095,7 @@ name: acute myeloid leukemia, t(10;11)(p12;q23) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C132102] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(10;11)(p12;q23)" EXACT [NCIT:C132102] +synonym: "AML, t(10;11)(p12;q23)" EXACT [] xref: NCIT:C132101 {source="MONDO:equivalentTo"} xref: NCIT:C132102 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C132102"} ! acute myeloid leukemia @@ -541013,7 +541109,7 @@ def: "Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AML, t(10;11)(p11.2;q23)" EXACT [NCIT:C168758] +synonym: "AML, t(10;11)(p11.2;q23)" EXACT [] xref: NCIT:C168758 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C168758"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541026,7 +541122,7 @@ def: "Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AML, t(1;11)(q21;q23)" EXACT [NCIT:C168759] +synonym: "AML, t(1;11)(q21;q23)" EXACT [] xref: NCIT:C168759 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C168759"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541038,8 +541134,8 @@ name: acute myeloid leukemia, t(4;11)(q21;q23) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36365] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(4;11)(q21;q23)" EXACT [NCIT:C36365] -synonym: "AML, t(4;11)(q21;q23.3)" EXACT [NCIT:C36365] +synonym: "AML, t(4;11)(q21;q23)" EXACT [] +synonym: "AML, t(4;11)(q21;q23.3)" EXACT [] xref: NCIT:C36365 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36365"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541051,8 +541147,8 @@ name: acute myeloid leukemia, t(6;11)(q27;q23) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36610] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(6;11)(q27;q23)" EXACT [NCIT:C36610] -synonym: "AML, t(6;11)(q27;q23.3)" EXACT [NCIT:C36610] +synonym: "AML, t(6;11)(q27;q23)" EXACT [] +synonym: "AML, t(6;11)(q27;q23.3)" EXACT [] xref: NCIT:C132105 {source="MONDO:equivalentTo"} xref: NCIT:C36610 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36610"} ! acute myeloid leukemia @@ -541065,10 +541161,10 @@ name: acute myeloid leukemia, t(6;9)(p23;q34.1) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36532] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(6;9)(p22.3;q34.1)" EXACT [NCIT:C36532] -synonym: "AML, t(6;9)(p22;q34)" EXACT [NCIT:C36532] -synonym: "AML, t(6;9)(p23;q34)" EXACT [NCIT:C36532] -synonym: "AML, t(6;9)(p23;q34.1)" EXACT [NCIT:C36532] +synonym: "AML, t(6;9)(p22.3;q34.1)" EXACT [] +synonym: "AML, t(6;9)(p22;q34)" EXACT [] +synonym: "AML, t(6;9)(p23;q34)" EXACT [] +synonym: "AML, t(6;9)(p23;q34.1)" EXACT [] xref: DOID:0081080 {source="MONDO:equivalentTo"} xref: NCIT:C36532 {source="MONDO:otherHierarchy"} xref: NCIT:C82423 {source="MONDO:equivalentTo"} @@ -541082,7 +541178,7 @@ name: acute myeloid leukemia, t(11;19)(q23;p13) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168764] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(11;19)(q23;p13)" EXACT [NCIT:C168764] +synonym: "AML, t(11;19)(q23;p13)" EXACT [] xref: NCIT:C168764 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C168764"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541094,7 +541190,7 @@ name: acute myeloid leukemia, t(11;19)(q23;p13.1) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36371] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(11;19)(q23;p13.1)" EXACT [NCIT:C36371] +synonym: "AML, t(11;19)(q23;p13.1)" EXACT [] xref: NCIT:C36371 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36371"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541106,8 +541202,8 @@ name: acute myeloid leukemia, t(11;19)(q23.3;p13.3) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36372] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(11;19)(q23.3;p13.3)" EXACT [NCIT:C36372] -synonym: "AML, t(11;19)(q23;p13.3)" EXACT [NCIT:C36372] +synonym: "AML, t(11;19)(q23.3;p13.3)" EXACT [] +synonym: "AML, t(11;19)(q23;p13.3)" EXACT [] xref: NCIT:C36372 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36372"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541120,12 +541216,12 @@ def: "Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AML, 11q23.3 Translocation" EXACT [NCIT:C36517] -synonym: "AML, t(11;v)(q23.3;v)" EXACT [NCIT:C36517] -synonym: "AML, t(11;v)(q23;v)" EXACT [NCIT:C36517] -synonym: "AML, t(V;11)(v;q23)" EXACT [NCIT:C36517] -synonym: "AML, t(V;11)(v;q23.3)" EXACT [NCIT:C36517] -synonym: "AML, t(v;11q23.3)" EXACT [NCIT:C36517] +synonym: "AML, 11q23.3 Translocation" EXACT [] +synonym: "AML, t(11;v)(q23.3;v)" EXACT [] +synonym: "AML, t(11;v)(q23;v)" EXACT [] +synonym: "AML, t(V;11)(v;q23)" EXACT [] +synonym: "AML, t(V;11)(v;q23.3)" EXACT [] +synonym: "AML, t(v;11q23.3)" EXACT [] xref: NCIT:C36517 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36517"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541137,7 +541233,7 @@ name: acute myeloid leukemia, Monosomy 7 def: "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36411] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, Monosomy 7" EXACT [NCIT:C36411] +synonym: "AML, Monosomy 7" EXACT [] xref: NCIT:C36411 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36411"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541150,7 +541246,7 @@ name: acute myeloid leukemia, Monosomy 5 def: "Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36523] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, Monosomy 5" EXACT [NCIT:C36523] +synonym: "AML, Monosomy 5" EXACT [] xref: NCIT:C36523 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36523"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541162,8 +541258,8 @@ name: acute myeloid leukemia, Trisomy 8 def: "Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36396] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, tri8" EXACT [NCIT:C36396] -synonym: "AML, Trisomy 8" EXACT [NCIT:C36396] +synonym: "AML, tri8" EXACT [] +synonym: "AML, Trisomy 8" EXACT [] xref: NCIT:C162775 {source="MONDO:equivalentTo"} xref: NCIT:C36396 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36396"} ! acute myeloid leukemia @@ -541176,8 +541272,8 @@ name: acute myeloid leukemia, der12p def: "Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C173542] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, der(12p)" EXACT [NCIT:C173542] -synonym: "AML, der12p" EXACT [NCIT:C173542] +synonym: "AML, der(12p)" EXACT [] +synonym: "AML, der12p" EXACT [] xref: NCIT:C173542 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C173542"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541189,7 +541285,7 @@ name: acute myeloid leukemia, t(2;12) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C173543] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(2;12)" EXACT [NCIT:C173543] +synonym: "AML, t(2;12)" EXACT [] xref: NCIT:C173543 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C173543"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541201,7 +541297,7 @@ name: acute myeloid leukemia, t(11;17) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C175582] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(11;17)" EXACT [NCIT:C175582] +synonym: "AML, t(11;17)" EXACT [] xref: NCIT:C175582 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C175582"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541213,7 +541309,7 @@ name: acute myeloid leukemia, t(8;16) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C175583] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(8;16)" EXACT [NCIT:C175583] +synonym: "AML, t(8;16)" EXACT [] xref: NCIT:C175583 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C175583"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541225,7 +541321,7 @@ name: acute myeloid leukemia, t(1;22) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C175584] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(1;22)" EXACT [NCIT:C175584] +synonym: "AML, t(1;22)" EXACT [] xref: NCIT:C175584 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C175584"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541238,7 +541334,7 @@ def: "Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AML, t(5;11)(q35;p15)" EXACT [NCIT:C131503] +synonym: "AML, t(5;11)(q35;p15)" EXACT [] xref: NCIT:C131502 {source="MONDO:equivalentTo"} xref: NCIT:C131503 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C131503"} ! acute myeloid leukemia @@ -541251,7 +541347,7 @@ name: acute myeloid leukemia, t(7;12)(q36;p13) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C122689] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(7;12)(q36;p13)" EXACT [NCIT:C122689] +synonym: "AML, t(7;12)(q36;p13)" EXACT [] xref: NCIT:C122689 {source="MONDO:otherHierarchy"} xref: NCIT:C122690 {source="MONDO:equivalentTo"} is_a: MONDO:0018874 {source="NCIT:C122689"} ! acute myeloid leukemia @@ -541264,9 +541360,9 @@ name: acute myeloid leukemia, t(9;22)(q34.1;q11.2) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C13271] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(9;22)(q34.1;q11.2)" EXACT [NCIT:C13271] -synonym: "AML, t(9;22)(q34;q11)" EXACT [NCIT:C13271] -synonym: "AML, t(9;22)(q34;q11.2)" EXACT [NCIT:C13271] +synonym: "AML, t(9;22)(q34.1;q11.2)" EXACT [] +synonym: "AML, t(9;22)(q34;q11)" EXACT [] +synonym: "AML, t(9;22)(q34;q11.2)" EXACT [] xref: NCIT:C13271 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C13271"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541278,9 +541374,9 @@ name: acute myeloid leukemia, inv(3)(q21.3;q26.2) def: "Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36407] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, inv(3)(q21.3;q26.2)" EXACT [NCIT:C36407] -synonym: "AML, inv(3)(q21.3q26.2)" EXACT [NCIT:C36407] -synonym: "AML, inv(3)(q21q26.2)" EXACT [NCIT:C36407] +synonym: "AML, inv(3)(q21.3;q26.2)" EXACT [] +synonym: "AML, inv(3)(q21.3q26.2)" EXACT [] +synonym: "AML, inv(3)(q21q26.2)" EXACT [] xref: NCIT:C122716 {source="MONDO:equivalentTo"} xref: NCIT:C36407 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36407"} ! acute myeloid leukemia @@ -541293,10 +541389,10 @@ name: acute myeloid leukemia, t(3;3)(q21.3;q26.2) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36406] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(3;3)(q21.3;q26.2)" EXACT [NCIT:C36406] -synonym: "AML, t(3;3)(q21.3q26.2)" EXACT [NCIT:C36406] -synonym: "AML, t(3;3)(q21;q26.2)" EXACT [NCIT:C36406] -synonym: "AML, t(3;3)(q26;q21)" EXACT [NCIT:C36406] +synonym: "AML, t(3;3)(q21.3;q26.2)" EXACT [] +synonym: "AML, t(3;3)(q21.3q26.2)" EXACT [] +synonym: "AML, t(3;3)(q21;q26.2)" EXACT [] +synonym: "AML, t(3;3)(q26;q21)" EXACT [] xref: NCIT:C122717 {source="MONDO:equivalentTo"} xref: NCIT:C36406 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36406"} ! acute myeloid leukemia @@ -541309,7 +541405,7 @@ name: acute myeloid leukemia, t(3;12)(q23;p12.3) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168766] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(3;12)(q23;p12.3)" EXACT [NCIT:C168766] +synonym: "AML, t(3;12)(q23;p12.3)" EXACT [] xref: NCIT:C168766 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C168766"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541321,10 +541417,10 @@ name: acute myeloid leukemia, del(5q31-q32) def: "Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168769] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, 5q31-32 Deletion" EXACT [NCIT:C168769] -synonym: "AML, del(5)(q31-q32)" EXACT [NCIT:C168769] -synonym: "AML, del(5)(q31q32)" EXACT [NCIT:C168769] -synonym: "AML, del(5q31-q32)" EXACT [NCIT:C168769] +synonym: "AML, 5q31-32 Deletion" EXACT [] +synonym: "AML, del(5)(q31-q32)" EXACT [] +synonym: "AML, del(5)(q31q32)" EXACT [] +synonym: "AML, del(5q31-q32)" EXACT [] xref: NCIT:C168769 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C168769"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541336,11 +541432,11 @@ name: acute myeloid leukemia, del(13q14-q21) def: "Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168770] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, 13q14-q21 Deletion" EXACT [NCIT:C168770] -synonym: "AML, del(13)(q14-q21)" EXACT [NCIT:C168770] -synonym: "AML, del(13)(q14q21)" EXACT [NCIT:C168770] -synonym: "AML, del(13q)(13q14-21)" EXACT [NCIT:C168770] -synonym: "AML, del(13q14-q21)" EXACT [NCIT:C168770] +synonym: "AML, 13q14-q21 Deletion" EXACT [] +synonym: "AML, del(13)(q14-q21)" EXACT [] +synonym: "AML, del(13)(q14q21)" EXACT [] +synonym: "AML, del(13q)(13q14-21)" EXACT [] +synonym: "AML, del(13q14-q21)" EXACT [] xref: NCIT:C168770 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C168770"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541353,8 +541449,8 @@ def: "Any acute myeloid leukemia that has the chromosomal anomaly loss of chromo subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AML, del(17p)" EXACT [NCIT:C36499] -synonym: "AML, loss of chromosome 17p" EXACT [NCIT:C36499] +synonym: "AML, del(17p)" EXACT [] +synonym: "AML, loss of chromosome 17p" EXACT [] xref: NCIT:C36499 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36499"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541366,20 +541462,20 @@ name: acute myeloid leukemia, MLL gene rearrangement def: "Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C122623] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, KMT2A Gene Rearrangement" EXACT [NCIT:C122623] -synonym: "AML, KMT2A Rearrangement" EXACT [NCIT:C122623] -synonym: "AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement" EXACT [NCIT:C122623] -synonym: "AML, Lysine Methyltransferase 2A Gene Rearrangement" EXACT [NCIT:C122623] +synonym: "AML, KMT2A Gene Rearrangement" EXACT [] +synonym: "AML, KMT2A Rearrangement" EXACT [] +synonym: "AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement" EXACT [] +synonym: "AML, Lysine Methyltransferase 2A Gene Rearrangement" EXACT [] synonym: "AML, Mixed Lineage Leukaemia Gene Rearrangement" EXACT OMO:0003005 [] -synonym: "AML, Mixed Lineage Leukemia Gene Rearrangement" EXACT [NCIT:C122623] -synonym: "AML, MLL gene rearrangement" EXACT [NCIT:C122623] -synonym: "AML, MLL Rearrangement" EXACT [NCIT:C122623] +synonym: "AML, Mixed Lineage Leukemia Gene Rearrangement" EXACT [] +synonym: "AML, MLL gene rearrangement" EXACT [] +synonym: "AML, MLL Rearrangement" EXACT [] synonym: "AML, Myeloid/Lymphoid Leukaemia Gene Rearrangement" EXACT OMO:0003005 [] -synonym: "AML, Myeloid/Lymphoid Leukemia Gene Rearrangement" EXACT [NCIT:C122623] +synonym: "AML, Myeloid/Lymphoid Leukemia Gene Rearrangement" EXACT [] synonym: "AML, Myeloid/Lymphoid or Mixed Lineage Leukaemia Gene Rearrangement" EXACT OMO:0003005 [] -synonym: "AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement" EXACT [NCIT:C122623] +synonym: "AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement" EXACT [] synonym: "AML, Myeloid/Lymphoid or Mixed-Lineage Leukaemia (Trithorax Homolog, Drosophila) Gene Rearrangement" EXACT OMO:0003005 [] -synonym: "AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement" EXACT [NCIT:C122623] +synonym: "AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement" EXACT [] xref: DOID:0081094 {source="MONDO:equivalentTo"} xref: NCIT:C122623 {source="MONDO:otherHierarchy"} xref: NCIT:C174129 {source="MONDO:equivalentTo"} @@ -541393,10 +541489,10 @@ name: acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive def: "Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168771] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, Non-KMT2A MLLT10 Rearrangement" EXACT [NCIT:C168771] -synonym: "AML, Non-KMT2A MLLT10 rearrangement positive" EXACT [NCIT:C168771] -synonym: "AML, Non-MLL MLLT10 Rearrangement" EXACT [NCIT:C168771] -synonym: "AML, Non-MLL MLLT10 Rearrangement Positive" EXACT [NCIT:C168771] +synonym: "AML, Non-KMT2A MLLT10 Rearrangement" EXACT [] +synonym: "AML, Non-KMT2A MLLT10 rearrangement positive" EXACT [] +synonym: "AML, Non-MLL MLLT10 Rearrangement" EXACT [] +synonym: "AML, Non-MLL MLLT10 Rearrangement Positive" EXACT [] xref: NCIT:C168771 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C168771"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541408,10 +541504,10 @@ name: acute myeloid leukemia, inv(16)(p13.3;q24.3) def: "Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C167195] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, inv(16)(p13.3;q24.3)" EXACT [NCIT:C167195] -synonym: "AML, inv(16)(p13.3q24.3)" EXACT [NCIT:C167195] -synonym: "AML, inv(16)(p13;q24)" EXACT [NCIT:C167195] -synonym: "AML, inv(16)(p13q24)" EXACT [NCIT:C167195] +synonym: "AML, inv(16)(p13.3;q24.3)" EXACT [] +synonym: "AML, inv(16)(p13.3q24.3)" EXACT [] +synonym: "AML, inv(16)(p13;q24)" EXACT [] +synonym: "AML, inv(16)(p13q24)" EXACT [] xref: NCIT:C167195 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C167195"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541423,7 +541519,7 @@ name: acute myeloid leukemia, t(11;15)(p15;q35) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C131505] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(11;15)(p15;q35)" EXACT [NCIT:C131505] +synonym: "AML, t(11;15)(p15;q35)" EXACT [] xref: NCIT:C131504 {source="MONDO:equivalentTo"} xref: NCIT:C131505 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C131505"} ! acute myeloid leukemia @@ -541436,7 +541532,7 @@ name: acute myeloid leukemia, t(16;21)(q24;q22) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C168773] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(16;21)(q24;q22)" EXACT [NCIT:C168773] +synonym: "AML, t(16;21)(q24;q22)" EXACT [] xref: NCIT:C168773 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C168773"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541449,7 +541545,7 @@ def: "Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34 subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "AML, t(3;5)(q25;q34)" EXACT [NCIT:C36415] +synonym: "AML, t(3;5)(q25;q34)" EXACT [] xref: DOID:0081092 {source="MONDO:equivalentTo"} xref: NCIT:C36415 {source="MONDO:otherHierarchy"} xref: NCIT:C7600 {source="MONDO:equivalentTo"} @@ -541463,8 +541559,8 @@ name: acute myeloid leukemia, t(16;21)(p11;q22) def: "Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C36616] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, t(16;21)(p11.2;q22.2)" EXACT [NCIT:C36616] -synonym: "AML, t(16;21)(p11;q22)" EXACT [NCIT:C36616] +synonym: "AML, t(16;21)(p11.2;q22.2)" EXACT [] +synonym: "AML, t(16;21)(p11;q22)" EXACT [] xref: NCIT:C36616 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C36616"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541485,16 +541581,16 @@ def: "Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CE subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AML, C/EBP-Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774] -synonym: "AML, C/EBPalpha Monoallelic Gene Mutation" EXACT [NCIT:C168774] -synonym: "AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774] -synonym: "AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774] -synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation" EXACT [NCIT:C168774] -synonym: "AML, CEBP Monoallelic Gene Mutation" EXACT [NCIT:C168774] -synonym: "AML, CEBPA Monoallelic Gene Mutation" EXACT [NCIT:C168774] -synonym: "AML, CEBPA Monoallelic Mutation" EXACT [NCIT:C168774] -synonym: "AML, moCEBPA" EXACT [NCIT:C168774] -synonym: "AML, monoallelic CEBPA gene mutation" EXACT [NCIT:C168774] +synonym: "AML, C/EBP-Alpha Monoallelic Gene Mutation" EXACT [] +synonym: "AML, C/EBPalpha Monoallelic Gene Mutation" EXACT [] +synonym: "AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation" EXACT [] +synonym: "AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation" EXACT [] +synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation" EXACT [] +synonym: "AML, CEBP Monoallelic Gene Mutation" EXACT [] +synonym: "AML, CEBPA Monoallelic Gene Mutation" EXACT [] +synonym: "AML, CEBPA Monoallelic Mutation" EXACT [] +synonym: "AML, moCEBPA" EXACT [] +synonym: "AML, monoallelic CEBPA gene mutation" EXACT [] xref: NCIT:C168774 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C168774"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541506,16 +541602,16 @@ name: acute myeloid leukemia, biallelic CEBPA gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C157569] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, biallelic CEBPA gene mutation" EXACT [NCIT:C157569] -synonym: "AML, biCEBPA" EXACT [NCIT:C157569] -synonym: "AML, C/EBP-Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569] -synonym: "AML, C/EBPalpha Biallelic Gene Mutation" EXACT [NCIT:C157569] -synonym: "AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569] -synonym: "AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569] -synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation" EXACT [NCIT:C157569] -synonym: "AML, CEBP Biallelic Gene Mutation" EXACT [NCIT:C157569] -synonym: "AML, CEBPA Biallelic Gene Mutation" EXACT [NCIT:C157569] -synonym: "AML, CEBPA Biallelic Mutation" EXACT [NCIT:C157569] +synonym: "AML, biallelic CEBPA gene mutation" EXACT [] +synonym: "AML, biCEBPA" EXACT [] +synonym: "AML, C/EBP-Alpha Biallelic Gene Mutation" EXACT [] +synonym: "AML, C/EBPalpha Biallelic Gene Mutation" EXACT [] +synonym: "AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation" EXACT [] +synonym: "AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation" EXACT [] +synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation" EXACT [] +synonym: "AML, CEBP Biallelic Gene Mutation" EXACT [] +synonym: "AML, CEBPA Biallelic Gene Mutation" EXACT [] +synonym: "AML, CEBPA Biallelic Mutation" EXACT [] xref: DOID:0081090 {source="MONDO:equivalentTo"} xref: NCIT:C157569 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="DOID:0081090", source="NCIT:C157569"} ! acute myeloid leukemia @@ -541529,13 +541625,13 @@ def: "Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mut subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AML, C/EBP-Alpha Gene Mutation" EXACT [NCIT:C38372] -synonym: "AML, C/EBPalpha Mutation" EXACT [NCIT:C38372] -synonym: "AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation" EXACT [NCIT:C38372] -synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation" EXACT [NCIT:C38372] -synonym: "AML, CEBP Gene Mutation" EXACT [NCIT:C38372] -synonym: "AML, CEBPA gene mutation" EXACT [NCIT:C38372] -synonym: "AML, CEBPA Mutation" EXACT [NCIT:C38372] +synonym: "AML, C/EBP-Alpha Gene Mutation" EXACT [] +synonym: "AML, C/EBPalpha Mutation" EXACT [] +synonym: "AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation" EXACT [] +synonym: "AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation" EXACT [] +synonym: "AML, CEBP Gene Mutation" EXACT [] +synonym: "AML, CEBPA gene mutation" EXACT [] +synonym: "AML, CEBPA Mutation" EXACT [] xref: NCIT:C151898 {source="MONDO:equivalentTo"} xref: NCIT:C38372 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C38372"} ! acute myeloid leukemia @@ -541548,14 +541644,14 @@ name: acute myeloid leukemia, FLT3 internal tandem duplication def: "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C67494] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, Activating FLT3-ITD Gene Mutation" EXACT [NCIT:C67494] -synonym: "AML, Activating FLT3-ITD Mutation" EXACT [NCIT:C67494] -synonym: "AML, FLT3 internal tandem duplication" EXACT [NCIT:C67494] -synonym: "AML, FLT3 ITD" EXACT [NCIT:C67494] -synonym: "AML, FLT3-ITD" EXACT [NCIT:C67494] -synonym: "AML, FLT3-ITD Activating Mutation" EXACT [NCIT:C67494] -synonym: "AML, FLT3-ITD Mutation" EXACT [NCIT:C67494] -synonym: "AML, FLT3/ITD Mutation" EXACT [NCIT:C67494] +synonym: "AML, Activating FLT3-ITD Gene Mutation" EXACT [] +synonym: "AML, Activating FLT3-ITD Mutation" EXACT [] +synonym: "AML, FLT3 internal tandem duplication" EXACT [] +synonym: "AML, FLT3 ITD" EXACT [] +synonym: "AML, FLT3-ITD" EXACT [] +synonym: "AML, FLT3-ITD Activating Mutation" EXACT [] +synonym: "AML, FLT3-ITD Mutation" EXACT [] +synonym: "AML, FLT3/ITD Mutation" EXACT [] xref: NCIT:C126748 {source="MONDO:equivalentTo"} xref: NCIT:C67494 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C67494"} ! acute myeloid leukemia @@ -541568,9 +541664,9 @@ name: acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C67495] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, FLT3 tyrosine kinase domain point mutation" EXACT [NCIT:C67495] -synonym: "AML, FLT3-TKD Point Mutation" EXACT [NCIT:C67495] -synonym: "AML, FLT3/TKD Point Mutation" EXACT [NCIT:C67495] +synonym: "AML, FLT3 tyrosine kinase domain point mutation" EXACT [] +synonym: "AML, FLT3-TKD Point Mutation" EXACT [] +synonym: "AML, FLT3/TKD Point Mutation" EXACT [] xref: NCIT:C67495 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C67495"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541582,14 +541678,14 @@ name: acute myeloid leukemia, WT1 gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C146726] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, GUD Gene Mutation" EXACT [NCIT:C146726] -synonym: "AML, WAGR Gene Mutation" EXACT [NCIT:C146726] -synonym: "AML, Wilms Tumor 1 Gene Mutation" EXACT [NCIT:C146726] +synonym: "AML, GUD Gene Mutation" EXACT [] +synonym: "AML, WAGR Gene Mutation" EXACT [] +synonym: "AML, Wilms Tumor 1 Gene Mutation" EXACT [] synonym: "AML, Wilms Tumour 1 Gene Mutation" EXACT OMO:0003005 [] -synonym: "AML, WIT-2 Gene Mutation" EXACT [NCIT:C146726] -synonym: "AML, WT1 gene mutation" EXACT [NCIT:C146726] -synonym: "AML, WT1 mutation" EXACT [NCIT:C146726] -synonym: "AML, WT33 Gene Mutation" EXACT [NCIT:C146726] +synonym: "AML, WIT-2 Gene Mutation" EXACT [] +synonym: "AML, WT1 gene mutation" EXACT [] +synonym: "AML, WT1 mutation" EXACT [] +synonym: "AML, WT33 Gene Mutation" EXACT [] xref: NCIT:C146726 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C146726"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541601,11 +541697,11 @@ name: acute myeloid leukemia, KIT exon 17 mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C116396] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, c-KIT Exon 17 Mutation" EXACT [NCIT:C116396] -synonym: "AML, CD117 Exon 17 Mutation" EXACT [NCIT:C116396] -synonym: "AML, KIT exon 17 mutation" EXACT [NCIT:C116396] -synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation" EXACT [NCIT:C116396] -synonym: "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation" EXACT [NCIT:C116396] +synonym: "AML, c-KIT Exon 17 Mutation" EXACT [] +synonym: "AML, CD117 Exon 17 Mutation" EXACT [] +synonym: "AML, KIT exon 17 mutation" EXACT [] +synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation" EXACT [] +synonym: "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation" EXACT [] xref: NCIT:C116396 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C116396"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541617,11 +541713,11 @@ name: acute myeloid leukemia, KIT exon 8 mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C128660] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, c-KIT Exon 8 Mutation" EXACT [NCIT:C128660] -synonym: "AML, CD117 Exon 8 Mutation" EXACT [NCIT:C128660] -synonym: "AML, KIT exon 8 mutation" EXACT [NCIT:C128660] -synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation" EXACT [NCIT:C128660] -synonym: "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation" EXACT [NCIT:C128660] +synonym: "AML, c-KIT Exon 8 Mutation" EXACT [] +synonym: "AML, CD117 Exon 8 Mutation" EXACT [] +synonym: "AML, KIT exon 8 mutation" EXACT [] +synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation" EXACT [] +synonym: "AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation" EXACT [] xref: NCIT:C128660 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C128660"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541633,13 +541729,13 @@ name: acute myeloid leukemia, KIT gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C39712] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, c-KIT Gene Mutation" EXACT [NCIT:C39712] -synonym: "AML, C-KIT Mutation" EXACT [NCIT:C39712] -synonym: "AML, CD117 Gene Mutation" EXACT [NCIT:C39712] -synonym: "AML, CD117 Mutation" EXACT [NCIT:C39712] -synonym: "AML, KIT gene mutation" EXACT [NCIT:C39712] -synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation" EXACT [NCIT:C39712] -synonym: "AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation" EXACT [NCIT:C39712] +synonym: "AML, c-KIT Gene Mutation" EXACT [] +synonym: "AML, C-KIT Mutation" EXACT [] +synonym: "AML, CD117 Gene Mutation" EXACT [] +synonym: "AML, CD117 Mutation" EXACT [] +synonym: "AML, KIT gene mutation" EXACT [] +synonym: "AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation" EXACT [] +synonym: "AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation" EXACT [] xref: NCIT:C39712 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C39712"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541651,15 +541747,15 @@ name: acute myeloid leukemia, GATA1 gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C82340] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, ERYF1 Gene Mutation" EXACT [NCIT:C82340] -synonym: "AML, GATA Binding Protein 1 Gene Mutation" EXACT [NCIT:C82340] -synonym: "AML, GATA-1 Gene Mutation" EXACT [NCIT:C82340] -synonym: "AML, GATA1 gene mutation" EXACT [NCIT:C82340] -synonym: "AML, GATA1 Mutation" EXACT [NCIT:C82340] -synonym: "AML, GF-1 Gene Mutation" EXACT [NCIT:C82340] -synonym: "AML, GF1 Gene Mutation" EXACT [NCIT:C82340] -synonym: "AML, NF-E1 Gene Mutation" EXACT [NCIT:C82340] -synonym: "AML, NFE1 Gene Mutation" EXACT [NCIT:C82340] +synonym: "AML, ERYF1 Gene Mutation" EXACT [] +synonym: "AML, GATA Binding Protein 1 Gene Mutation" EXACT [] +synonym: "AML, GATA-1 Gene Mutation" EXACT [] +synonym: "AML, GATA1 gene mutation" EXACT [] +synonym: "AML, GATA1 Mutation" EXACT [] +synonym: "AML, GF-1 Gene Mutation" EXACT [] +synonym: "AML, GF1 Gene Mutation" EXACT [] +synonym: "AML, NF-E1 Gene Mutation" EXACT [] +synonym: "AML, NFE1 Gene Mutation" EXACT [] xref: NCIT:C82340 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C82340"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541672,14 +541768,14 @@ def: "Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mut subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "AML, Acute Myeloid Leukaemia 1 Gene Mutation" EXACT OMO:0003005 [] -synonym: "AML, Acute Myeloid Leukemia 1 Gene Mutation" EXACT [NCIT:C38362] -synonym: "AML, AML1 Gene Mutation" EXACT [NCIT:C38362] -synonym: "AML, AML1 Mutation" EXACT [NCIT:C38362] -synonym: "AML, AMLCR1 Gene Mutation" EXACT [NCIT:C38362] -synonym: "AML, CBFA2 Gene Mutation" EXACT [NCIT:C38362] -synonym: "AML, CBFalpha2 Mutation" EXACT [NCIT:C38362] -synonym: "AML, Runt-Related Transcription Factor 1 Gene Mutation" EXACT [NCIT:C38362] -synonym: "AML, RUNX1 gene mutation" EXACT [NCIT:C38362] +synonym: "AML, Acute Myeloid Leukemia 1 Gene Mutation" EXACT [] +synonym: "AML, AML1 Gene Mutation" EXACT [] +synonym: "AML, AML1 Mutation" EXACT [] +synonym: "AML, AMLCR1 Gene Mutation" EXACT [] +synonym: "AML, CBFA2 Gene Mutation" EXACT [] +synonym: "AML, CBFalpha2 Mutation" EXACT [] +synonym: "AML, Runt-Related Transcription Factor 1 Gene Mutation" EXACT [] +synonym: "AML, RUNX1 gene mutation" EXACT [] xref: DOID:0081091 {source="MONDO:equivalentTo"} xref: NCIT:C129786 {source="MONDO:equivalentTo"} xref: NCIT:C38362 {source="MONDO:otherHierarchy"} @@ -541693,15 +541789,15 @@ name: acute myeloid leukemia, PTPN11 gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C82612] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, BPTP3 Gene Mutation" EXACT [NCIT:C82612] -synonym: "AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation" EXACT [NCIT:C82612] -synonym: "AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation" EXACT [NCIT:C82612] -synonym: "AML, PTP-1D Gene Mutation" EXACT [NCIT:C82612] -synonym: "AML, PTP2C Gene Mutation" EXACT [NCIT:C82612] -synonym: "AML, PTPN11 gene mutation" EXACT [NCIT:C82612] -synonym: "AML, SH-PTP2 Gene Mutation" EXACT [NCIT:C82612] -synonym: "AML, SHP-2 Gene Mutation" EXACT [NCIT:C82612] -synonym: "AML, SHP2 Gene Mutation" EXACT [NCIT:C82612] +synonym: "AML, BPTP3 Gene Mutation" EXACT [] +synonym: "AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation" EXACT [] +synonym: "AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation" EXACT [] +synonym: "AML, PTP-1D Gene Mutation" EXACT [] +synonym: "AML, PTP2C Gene Mutation" EXACT [] +synonym: "AML, PTPN11 gene mutation" EXACT [] +synonym: "AML, SH-PTP2 Gene Mutation" EXACT [] +synonym: "AML, SHP-2 Gene Mutation" EXACT [] +synonym: "AML, SHP2 Gene Mutation" EXACT [] xref: NCIT:C82612 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C82612"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541713,9 +541809,9 @@ name: acute myeloid leukemia, NRAS gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C41381] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, N-RAS Gene Mutation" EXACT [NCIT:C41381] -synonym: "AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation" EXACT [NCIT:C41381] -synonym: "AML, NRAS gene mutation" EXACT [NCIT:C41381] +synonym: "AML, N-RAS Gene Mutation" EXACT [] +synonym: "AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation" EXACT [] +synonym: "AML, NRAS gene mutation" EXACT [] xref: NCIT:C41381 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C41381"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541727,12 +541823,12 @@ name: acute myeloid leukemia, KRAS gene mutation def: "Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.)" [https://orcid.org/0000-0001-9863-851X, https://orcid.org/0000-0002-3302-4610, NCIT:C41361] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "AML, c-K-ras Gene Mutation" EXACT [NCIT:C41361] -synonym: "AML, KRAS Gene Mutation" EXACT [NCIT:C41361] -synonym: "AML, KRAS gene mutation" EXACT [NCIT:C41361] -synonym: "AML, KRAS-2 Gene Mutation" EXACT [NCIT:C41361] -synonym: "AML, KRAS2 Gene Mutation" EXACT [NCIT:C41361] -synonym: "AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation" EXACT [NCIT:C41361] +synonym: "AML, c-K-ras Gene Mutation" EXACT [] +synonym: "AML, KRAS Gene Mutation" EXACT [] +synonym: "AML, KRAS gene mutation" EXACT [] +synonym: "AML, KRAS-2 Gene Mutation" EXACT [] +synonym: "AML, KRAS2 Gene Mutation" EXACT [] +synonym: "AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation" EXACT [] xref: NCIT:C41361 {source="MONDO:otherHierarchy"} is_a: MONDO:0018874 {source="NCIT:C41361"} ! acute myeloid leukemia relationship: has_characteristic PATO:0000389 ! acute @@ -541759,7 +541855,7 @@ name: progressive bulbar palsy of childhood def: "A progressive bulbar palsy of childhood that occurs during childhood." [MONDO:patterns/childhood] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "Fazio-Londe disease" EXACT [OMIM:211500] +synonym: "Fazio-Londe disease" EXACT [DOID:0080632, OMIM:211500] xref: DOID:0080632 {source="MONDO:equivalentTo"} xref: MEDGEN:41975 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:211500 {source="MONDO:equivalentTo"} @@ -541789,7 +541885,7 @@ synonym: "familial intrahepatic cholestasis of pregnancy" RELATED [GARD:0009804] synonym: "familial recurrent intrahepatic cholestasis of pregnancy" RELATED [GARD:0009804] synonym: "gravidic intrahepatic cholestasis" EXACT [DOID:0070227, Orphanet:69665] synonym: "ICP" EXACT ABBREVIATION [DOID:0070227] -synonym: "intrahepatic cholestasis of pregnancy" EXACT [DOID:1852] +synonym: "intrahepatic cholestasis of pregnancy" EXACT [DOID:0070227, icd11.foundation:1576251337, Orphanet:69665] synonym: "pregnancy related cholestasis" EXACT [DOID:0070227, GARD:0009804] synonym: "pregnancy-related cholestasis" EXACT [Orphanet:69665] synonym: "recurrent intrahepatic cholestasis of pregnancy" EXACT [DOID:0070227, Orphanet:69665] @@ -541821,7 +541917,7 @@ def: "A migraine disorder characterized by episodes that occur in the absence of subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "common migraine" EXACT [NCIT:C117004] +synonym: "common migraine" EXACT [DOID:12783, icd11.foundation:2048783472, NCIT:C117004] xref: DOID:12783 {source="MONDO:equivalentTo"} xref: icd11.foundation:2048783472 {source="MONDO:equivalentTo"} xref: MEDGEN:137899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -541883,10 +541979,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "Chondrodystrophic myotonia" RELATED [OMIM:255800] -synonym: "Schwartz-Jampel syndrome 1" RELATED [DOID:0090005] -synonym: "Schwartz-Jampel syndrome type 1" EXACT [DOID:0090005, MONDORULE:1, Orphanet:800] -synonym: "Schwartz-Jampel syndrome, type 1" RELATED [MONDO:Lexical, OMIM:255800] +synonym: "Chondrodystrophic myotonia" RELATED [] +synonym: "Schwartz-Jampel syndrome 1" RELATED [] +synonym: "Schwartz-Jampel syndrome type 1" EXACT [DOID:0090005, MONDORULE:1] +synonym: "Schwartz-Jampel syndrome, type 1" RELATED [MONDO:Lexical] synonym: "SJA syndrome" EXACT [OMIM:255800] synonym: "SJS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:255800] xref: DOID:0090005 {source="MONDO:equivalentTo"} @@ -541907,7 +542003,7 @@ synonym: "cataract 2 multiple types" EXACT [DOID:0110235] synonym: "cataract 2 multiple types with or without microcornea" EXACT [DOID:0110235] synonym: "cataract 2, multiple types, with or without microcornea" EXACT [OMIM:604307] synonym: "cataract, Coppock-like" EXACT [OMIM:604307] -synonym: "CTRCT2" EXACT ABBREVIATION [OMIM:604307] +synonym: "CTRCT2" EXACT ABBREVIATION [DOID:0110235, OMIM:604307] xref: DOID:0110235 {source="MONDO:equivalentTo"} xref: MEDGEN:1648415 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604307 {source="MONDO:equivalentTo", source="DOID:0110235"} @@ -541924,27 +542020,27 @@ def: "A retinopathy caused by a variant in the X-linked gene, RPGR." [https://cl subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "choroidoretinal degeneration with retinal reflex in heterozygous women" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:300029] -synonym: "COD1" NARROW ABBREVIATION [DOID:0111008, https://clinicalgenome.org/affiliation/40072/] -synonym: "cone dystrophy 1, X-linked" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:304020] +synonym: "choroidoretinal degeneration with retinal reflex in heterozygous women" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "COD1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/] +synonym: "cone dystrophy 1, X-linked" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "cone dystrophy X-linked 1" NARROW [GARD:0010652, https://clinicalgenome.org/affiliation/40072/] -synonym: "cone-rod degeneration, X-linked" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:300029] +synonym: "cone-rod degeneration, X-linked" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "cone-rod dystrophy X-linked 1" NARROW [GARD:0010652, https://clinicalgenome.org/affiliation/40072/] -synonym: "cone-rod dystrophy, X-linked, 1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:304020] -synonym: "cone-rod dystrophy, X-linked, type 1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:304020] -synonym: "CORDX1" NARROW ABBREVIATION [DOID:0111008, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:304020] -synonym: "macular degeneration, X-linked atrophic" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:300834] +synonym: "cone-rod dystrophy, X-linked, 1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "cone-rod dystrophy, X-linked, type 1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] +synonym: "CORDX1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "macular degeneration, X-linked atrophic" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "retinal ciliopathy due to mutation in the RPGR gene" NARROW [https://clinicalgenome.org/affiliation/40072/] -synonym: "retinitis pigmentosa 15" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:300029] -synonym: "retinitis pigmentosa 3" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:300029] +synonym: "retinitis pigmentosa 15" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "retinitis pigmentosa 3" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "retinitis pigmentosa caused by mutation in RPGR" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "retinitis pigmentosa type 3" NARROW [DOID:0110414, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:300029] -synonym: "RP3" NARROW ABBREVIATION [DOID:0110414, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:300029] +synonym: "retinitis pigmentosa type 3" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] +synonym: "RP3" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "RPGR retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RPGR retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/] -synonym: "X-linked cone dystrophy 1" NARROW [DOID:0111008, https://clinicalgenome.org/affiliation/40072/] +synonym: "X-linked cone dystrophy 1" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "X-linked cone-rod dystrophy 1" NARROW [https://clinicalgenome.org/affiliation/40072/] -synonym: "X-linked cone-rod dystrophy type 1" NARROW [DOID:0111008, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] +synonym: "X-linked cone-rod dystrophy type 1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy intersection_of: MONDO:0019118 ! inherited retinal dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10295 ! RPGR @@ -541962,14 +542058,14 @@ subset: rare synonym: "AIPL1 Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "AIPL1 retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/] synonym: "amaurosis congenita of Leber, type 4" NARROW [GARD:0009662, https://clinicalgenome.org/affiliation/40072/] -synonym: "cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:604393] -synonym: "cone-rod dystrophy, AIPL1-related" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:604393] -synonym: "LCA4" NARROW ABBREVIATION [DOID:0110332, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:604393] -synonym: "Leber congenital amaurosis 4" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:604393] +synonym: "cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "cone-rod dystrophy, AIPL1-related" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "LCA4" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "Leber congenital amaurosis 4" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "Leber congenital amaurosis caused by mutation in AIPL1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 4" NARROW [DOID:0110332, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:604393] -synonym: "retinitis pigmentosa, juvenile" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:604393] -synonym: "retinitis pigmentosa, juvenile, AIPL1-related" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:604393] +synonym: "Leber congenital amaurosis type 4" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] +synonym: "retinitis pigmentosa, juvenile" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "retinitis pigmentosa, juvenile, AIPL1-related" NARROW [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy intersection_of: MONDO:0019118 ! inherited retinal dystrophy intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/359 ! AIPL1 @@ -541983,9 +542079,9 @@ name: glycogen storage disease IXa2 def: "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes." [OMIM:306000] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "GSD IXa2" EXACT [OMIM:306000] -synonym: "GSD9A2" EXACT ABBREVIATION [OMIM:306000] -synonym: "liver glycogenosis, X-linked, type 2" EXACT [OMIM:306000] +synonym: "GSD IXa2" EXACT [] +synonym: "GSD9A2" EXACT ABBREVIATION [] +synonym: "liver glycogenosis, X-linked, type 2" EXACT [] xref: MEDGEN:411335 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C2748941 {source="MONDO:equivalentTo", source="MEDGEN:411335", source="MONDO:MEDGEN"} is_a: MONDO:0002412 {source="OMIM:306000"} ! disorder of glycogen metabolism @@ -542011,20 +542107,20 @@ def: "A retinopathy caused by a heterozygous gain of function or dominant-negati subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CACD1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, OMIM:215500] +synonym: "CACD1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/] synonym: "central areolar choroidal dystrophy caused by mutation in GUCY2D" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "choroidal dystrophy, central areolar" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:215500] -synonym: "choroidal dystrophy, central areolar, 1" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:215500] -synonym: "choroidal sclerosis" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:215500] -synonym: "cone-rod dystrophy 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:601777] +synonym: "choroidal dystrophy, central areolar" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "choroidal dystrophy, central areolar, 1" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "choroidal sclerosis" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "cone-rod dystrophy 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "cone-rod dystrophy caused by mutation in GUCY2D" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "cone-rod dystrophy type 6" NARROW [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:601777] -synonym: "CORD6" NARROW ABBREVIATION [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:601777] +synonym: "cone-rod dystrophy type 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] +synonym: "CORD6" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "dominant GUCY2D retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] synonym: "GUCY2D central areolar choroidal dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GUCY2D cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "RCD2" NARROW ABBREVIATION [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, OMIM:601251, OMIM:601777] -synonym: "retinal cone dystrophy 2" NARROW [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, OMIM:601777] +synonym: "RCD2" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/] +synonym: "retinal cone dystrophy 2" NARROW [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0100454 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D retinopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100441 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000006 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal dominant inheritance @@ -542039,10 +542135,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "retinitis pigmentosa 2" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:312600] +synonym: "retinitis pigmentosa 2" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "retinitis pigmentosa caused by mutation in RP2" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "retinitis pigmentosa type 2" NARROW [DOID:0110415, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:312600] -synonym: "RP2" NARROW ABBREVIATION [DOID:0110415, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:312600] +synonym: "retinitis pigmentosa type 2" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] +synonym: "RP2" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "RP2 retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RP2 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy @@ -542059,10 +542155,10 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "fundus albipunctatus" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:136880] -synonym: "pigmentary retinal dystrophy" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, ICD9CM:362.74] +synonym: "fundus albipunctatus" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "pigmentary retinal dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, ICD9CM:362.74] synonym: "RDH5 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] -synonym: "retinitis punctata albescens" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, OMIM:136880] +synonym: "retinitis punctata albescens" NARROW [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100443 {source="MONDO:CLINGEN"} relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9940 {source="https://clinicalgenome.org/affiliation/40072/"} ! RDH5 @@ -542076,18 +542172,18 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Bothnia retinal dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:607475] +synonym: "Bothnia retinal dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "cone-rod dystrophy caused by mutation in RLBP1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "fundus albipunctatus" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:136880] -synonym: "Newfoundland ROD-cone dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:607476] -synonym: "Newfoundland rod-cone dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:607476] -synonym: "NFRCD" NARROW ABBREVIATION [DOID:0111015, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:607476] -synonym: "pigmentary retinal dystrophy" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, ICD9CM:362.74] -synonym: "retinitis punctata albescens" NARROW [DOID:11105, https://clinicalgenome.org/affiliation/40072/, OMIM:136880, Orphanet:52427] +synonym: "fundus albipunctatus" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "Newfoundland ROD-cone dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "Newfoundland rod-cone dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "NFRCD" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "pigmentary retinal dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, ICD9CM:362.74] +synonym: "retinitis punctata albescens" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "RLBP1 cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RLBP1 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] -synonym: "Vasterbotten dystrophy" NARROW [DOID:0050683, https://clinicalgenome.org/affiliation/40072/, OMIM:607475, Orphanet:85128] -synonym: "Västerbotten dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, Orphanet:85128] +synonym: "Vasterbotten dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "Västerbotten dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100444 {source="MONDO:CLINGEN"} relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10024 {source="https://clinicalgenome.org/affiliation/40072/"} ! RLBP1 @@ -542101,13 +542197,13 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "amaurosis congenita of Leber, type 5" NARROW [GARD:0009983, https://clinicalgenome.org/affiliation/40072/] -synonym: "LCA5" NARROW ABBREVIATION [DOID:0110215, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:604537] +synonym: "LCA5" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "LCA5 Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "LCA5 retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/] synonym: "LCA5-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] -synonym: "Leber congenital amaurosis 5" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:604537] +synonym: "Leber congenital amaurosis 5" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "Leber congenital amaurosis caused by mutation in LCA5" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 5" NARROW [DOID:0110215, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:604537] +synonym: "Leber congenital amaurosis type 5" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100445 {source="MONDO:CLINGEN"} relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/31923 {source="https://clinicalgenome.org/affiliation/40072/"} ! LCA5 @@ -542121,26 +542217,26 @@ def: "A retinopathy caused by biallelic variants in the CNGB3 gene." [https://cl subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ACHM1" NARROW ABBREVIATION [DOID:0110008, https://clinicalgenome.org/affiliation/40072/] +synonym: "ACHM1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/] synonym: "ACHM1 (formerly)" NARROW [GARD:0009650, https://clinicalgenome.org/affiliation/40072/] -synonym: "ACHM1, formerly" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:262300] -synonym: "ACHM3" NARROW ABBREVIATION [DOID:0110008, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:262300] -synonym: "achromatopsia 3" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:262300] +synonym: "ACHM1, formerly" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "ACHM3" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "achromatopsia 3" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "achromatopsia caused by mutation in CNGB3" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "achromatopsia type 3" NARROW [DOID:0110008, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:262300] -synonym: "achromatopsia with myopia" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:262300] +synonym: "achromatopsia type 3" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] +synonym: "achromatopsia with myopia" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "CNGB3 achromatopsia" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CNGB3 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] -synonym: "Pingelapese blindness" NARROW EXCLUDE [DOID:0110008, https://clinicalgenome.org/affiliation/40072/] -synonym: "RMCH1" NARROW ABBREVIATION [DOID:0110008, https://clinicalgenome.org/affiliation/40072/] +synonym: "Pingelapese blindness" NARROW EXCLUDE [https://clinicalgenome.org/affiliation/40072/] +synonym: "RMCH1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/] synonym: "RMCH1 (formerly)" NARROW [GARD:0009650, https://clinicalgenome.org/affiliation/40072/] -synonym: "rod monochromacy 1" NARROW [DOID:0110008, https://clinicalgenome.org/affiliation/40072/] +synonym: "rod monochromacy 1" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "Rod monochromacy 1 (formerly)" NARROW [GARD:0009650, https://clinicalgenome.org/affiliation/40072/] -synonym: "rod monochromacy 1, formerly" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:262300] -synonym: "rod monochromatism 1" NARROW [DOID:0110008, https://clinicalgenome.org/affiliation/40072/, OMIM:262300] +synonym: "rod monochromacy 1, formerly" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "rod monochromatism 1" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "Rod monochromatism 1 (formerly)" NARROW [GARD:0009650, https://clinicalgenome.org/affiliation/40072/] -synonym: "rod monochromatism 1, formerly" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:262300] -synonym: "total colorblindness with myopia" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:262300] +synonym: "rod monochromatism 1, formerly" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "total colorblindness with myopia" NARROW [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019119 {source="https://clinicalgenome.org/affiliation/40072/"} ! muscular channelopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100446 {source="MONDO:CLINGEN"} relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2153 {source="https://clinicalgenome.org/affiliation/40072/"} ! CNGB3 @@ -542153,10 +542249,10 @@ def: "A retinopathy caused by biallelic variants in the AFT6 gene." [https://cli subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ACHM7" NARROW ABBREVIATION [DOID:0110009, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:616517] -synonym: "achromatopsia 7" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:616517] +synonym: "ACHM7" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "achromatopsia 7" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "achromatopsia caused by mutation in ATF6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "achromatopsia type 7" NARROW [DOID:0110009, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:616517] +synonym: "achromatopsia type 7" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] synonym: "ATF6 achromatopsia" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "ATF6 retinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/] synonym: "ATF6-related retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] @@ -542174,10 +542270,10 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "cone-rod dystrophy 18" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:615374] +synonym: "cone-rod dystrophy 18" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "cone-rod dystrophy caused by mutation in RAB28" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "cone-rod dystrophy type 18" NARROW [DOID:0111024, https://clinicalgenome.org/affiliation/40072/, MONDORULE:2, OMIM:615374] -synonym: "CORD18" NARROW ABBREVIATION [DOID:0111024, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:615374] +synonym: "cone-rod dystrophy type 18" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:2] +synonym: "CORD18" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "RAB28 cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "RAB28 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy @@ -542195,11 +542291,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ataxia, posterior column, with retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/] -synonym: "autosomal recessive posterior column ataxia and retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, Orphanet:88628] -synonym: "AXPC1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:609033] +synonym: "autosomal recessive posterior column ataxia and retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "AXPC1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "FLVCR1 retinopathy with or without ataxia" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] -synonym: "PCARP" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, Orphanet:88628] -synonym: "posterior column ataxia with retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:609033] +synonym: "PCARP" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/] +synonym: "posterior column ataxia with retinitis pigmentosa" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "posterior column ataxia-retinitis pigmentosa syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy is_a: MONDO:0020046 {source="https://clinicalgenome.org/affiliation/40072/"} ! autosomal recessive degenerative and progressive cerebellar ataxia @@ -542217,8 +542313,8 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:329211"} subset: orphanet_rare {source="Orphanet:329211"} subset: rare -synonym: "ADNIV" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, Orphanet:329211] -synonym: "autosomal dominant neovascular inflammatory vitreoretinopathy" EXACT [https://clinicalgenome.org/affiliation/40072/, MONDO:0008664] +synonym: "ADNIV" EXACT ABBREVIATION [DOID:9719, https://clinicalgenome.org/affiliation/40072/, Orphanet:329211] +synonym: "autosomal dominant neovascular inflammatory vitreoretinopathy" EXACT [DOID:9719, https://clinicalgenome.org/affiliation/40072/, MONDO:0008664, Orphanet:329211] synonym: "CAPN5 vitreoretinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] synonym: "proliferative vitreoretinopathy" BROAD [https://clinicalgenome.org/affiliation/40072/, MONDO:0006928] synonym: "retinitis proliferans" EXACT [DOID:9719, https://clinicalgenome.org/affiliation/40072/] @@ -542258,33 +542354,33 @@ subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "amaurosis congenita of Leber, type 10" NARROW [GARD:0010487, https://clinicalgenome.org/affiliation/40072/] -synonym: "Bardet-Biedl syndrome 14" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:615991] -synonym: "Bardet-Biedl syndrome type 14" NARROW [DOID:0110136, https://clinicalgenome.org/affiliation/40072/, MONDORULE:2, OMIM:615991] -synonym: "BBS14" NARROW ABBREVIATION [DOID:0110136, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:615991] +synonym: "Bardet-Biedl syndrome 14" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "Bardet-Biedl syndrome type 14" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:2] +synonym: "BBS14" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "CEP290 ciliopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] synonym: "CEP290 Joubert syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CEP290 Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CEP290 Meckel syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "CEP290 Senior-Loken syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "JBTS5" NARROW ABBREVIATION [DOID:0111000, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:610188] -synonym: "Joubert syndrome 5" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:610188] +synonym: "JBTS5" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "Joubert syndrome 5" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "Joubert syndrome caused by mutation in CEP290" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "Joubert syndrome type 5" NARROW [DOID:0111000, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:610188] -synonym: "LCA10" NARROW ABBREVIATION [DOID:0110291, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:611755] -synonym: "Leber congenital amaurosis 10" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:611755] +synonym: "Joubert syndrome type 5" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] +synonym: "LCA10" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "Leber congenital amaurosis 10" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "Leber congenital amaurosis caused by mutation in CEP290" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 10" NARROW [DOID:0110291, https://clinicalgenome.org/affiliation/40072/, MONDORULE:2, OMIM:611755] -synonym: "Meckel syndrome 4" NARROW [DOID:0070118, https://clinicalgenome.org/affiliation/40072/] +synonym: "Leber congenital amaurosis type 10" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:2] +synonym: "Meckel syndrome 4" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "Meckel syndrome caused by mutation in CEP290" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "Meckel syndrome, type 4" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:611134] -synonym: "Meckel-Gruber syndrome, type 4" NARROW [DOID:0070118, https://clinicalgenome.org/affiliation/40072/, OMIM:611134] -synonym: "Meckel-like Cerebrorenodigital syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:611134] -synonym: "MKS4" NARROW ABBREVIATION [DOID:0070118, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:611134] -synonym: "SENIOR-Loken syndrome 6" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:610189] -synonym: "Senior-Loken syndrome 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:610189] +synonym: "Meckel syndrome, type 4" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "Meckel-Gruber syndrome, type 4" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "Meckel-like Cerebrorenodigital syndrome" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "MKS4" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "SENIOR-Loken syndrome 6" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "Senior-Loken syndrome 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "Senior-Loken syndrome caused by mutation in CEP290" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "Senior-Loken syndrome type 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:610189] -synonym: "SLSN6" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:610189] +synonym: "Senior-Loken syndrome type 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] +synonym: "SLSN6" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] is_a: MONDO:0005308 {source="https://clinicalgenome.org/affiliation/40072/"} ! ciliopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100451 {source="MONDO:CLINGEN"} relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/29021 {source="https://clinicalgenome.org/affiliation/40072/"} ! CEP290 @@ -542300,7 +542396,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "dominant RPE65 retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] synonym: "retinitis pigmentosa 87 with choroidal involvement" NARROW [https://clinicalgenome.org/affiliation/40072/] -synonym: "RP87" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/40072/] +synonym: "RP87" EXACT ABBREVIATION [DOID:0112144, https://clinicalgenome.org/affiliation/40072/] xref: DOID:0112144 {source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0112144"} ! autosomal dominant disease is_a: MONDO:0019118 {source="https://clinicalgenome.org/affiliation/40072/"} ! inherited retinal dystrophy @@ -542317,26 +542413,26 @@ def: "A retinopathy caused by biallelic variants in the GUCY2D gene." [https://c subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "amaurosis congenita of Leber 1" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:204000] -synonym: "amaurosis congenita of Leber I" NARROW [DOID:0110078, https://clinicalgenome.org/affiliation/40072/] +synonym: "amaurosis congenita of Leber 1" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "amaurosis congenita of Leber I" NARROW [https://clinicalgenome.org/affiliation/40072/] synonym: "amaurosis congenita of Leber, type 1" NARROW [GARD:0000635, https://clinicalgenome.org/affiliation/40072/] -synonym: "cone-rod dystrophy 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:601777] +synonym: "cone-rod dystrophy 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "cone-rod dystrophy caused by mutation in GUCY2D" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "cone-rod dystrophy type 6" NARROW [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:601777] -synonym: "CORD6" NARROW ABBREVIATION [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:601777] +synonym: "cone-rod dystrophy type 6" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] +synonym: "CORD6" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "CRB" NARROW ABBREVIATION [GARD:0000635, https://clinicalgenome.org/affiliation/40072/] synonym: "GUCY2D cone-rod dystrophy" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] synonym: "GUCY2D Leber congenital amaurosis" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "LCA" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, OMIM:204000] -synonym: "LCA1" NARROW ABBREVIATION [DOID:0110078, https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:204000] -synonym: "Leber congenital amaurosis 1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical, OMIM:204000] +synonym: "LCA" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/] +synonym: "LCA1" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] +synonym: "Leber congenital amaurosis 1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:Lexical] synonym: "Leber congenital amaurosis caused by mutation in GUCY2D" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDO:design_pattern] -synonym: "Leber congenital amaurosis type 1" NARROW [DOID:0110078, https://clinicalgenome.org/affiliation/40072/, MONDORULE:1, OMIM:204000] -synonym: "night blindness, congenital stationary, type 1I" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:618555] -synonym: "RCD2" NARROW ABBREVIATION [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, OMIM:601251, OMIM:601777] +synonym: "Leber congenital amaurosis type 1" NARROW [https://clinicalgenome.org/affiliation/40072/, MONDORULE:1] +synonym: "night blindness, congenital stationary, type 1I" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "RCD2" NARROW ABBREVIATION [https://clinicalgenome.org/affiliation/40072/] synonym: "recessive GUCY2D retinopathy" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40072/] -synonym: "retinal blindness, congenital" NARROW [https://clinicalgenome.org/affiliation/40072/, OMIM:204000] -synonym: "retinal cone dystrophy 2" NARROW [DOID:0111011, https://clinicalgenome.org/affiliation/40072/, OMIM:601777] +synonym: "retinal blindness, congenital" NARROW [https://clinicalgenome.org/affiliation/40072/] +synonym: "retinal cone dystrophy 2" NARROW [https://clinicalgenome.org/affiliation/40072/] is_a: MONDO:0100454 {source="https://clinicalgenome.org/affiliation/40072/"} ! GUCY2D retinopathy relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100453 {source="MONDO:CLINGEN"} relationship: has_characteristic HP:0000007 {source="https://clinicalgenome.org/affiliation/40072/"} ! Autosomal recessive inheritance @@ -542441,12 +542537,12 @@ id: MONDO:0100460 name: tobacco addiction, susceptibility to def: "An inherited susceptibility or predisposition to developing nicotine dependence." [MONDO:patterns/inherited_susceptibility] synonym: "cigarette habituation, susceptibility to" EXACT [OMIM:188890] -synonym: "nicotine addiction, protection from" EXACT [OMIM:188890, OMIM:genemap2] +synonym: "nicotine addiction, protection from" EXACT [] synonym: "nicotine addiction, susceptibility to" EXACT [OMIM:188890] -synonym: "nicotine dependence, protection against" EXACT [OMIM:188890, OMIM:genemap2] +synonym: "nicotine dependence, protection against" EXACT [OMIM:188890] synonym: "nicotine dependence, susceptibility to" EXACT [OMIM:188890] synonym: "smoking habit, susceptibility to" EXACT [OMIM:188890] -synonym: "susceptibility to tobacco addiction" EXACT [OMIM:188890] +synonym: "susceptibility to tobacco addiction" EXACT [] synonym: "tobacco addiction, susceptibility to" EXACT [OMIM:188890] xref: MEDGEN:348778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:188890 {source="DOID:0050742", source="MONDO:equivalentTo"} @@ -542472,7 +542568,7 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:251262"} subset: orphanet_rare {source="Orphanet:251262"} subset: rare -synonym: "OD" EXACT ABBREVIATION [OMIM:165800] +synonym: "OD" EXACT ABBREVIATION [] synonym: "osteochondritis dissecans and short stature" EXACT [Orphanet:251262] synonym: "osteochondritis dissecans, short stature, and early-onset osteoarthritis" EXACT [OMIM:165800] synonym: "SSOAOD" EXACT ABBREVIATION [OMIM:165800] @@ -542534,7 +542630,7 @@ subset: ordo_disorder {source="Orphanet:99001"} subset: orphanet_rare {source="Orphanet:99001"} subset: rare synonym: "butterfly-shaped pattern dystrophy" EXACT [Orphanet:99001] -synonym: "butterfly-shaped pigment dystrophy" EXACT [Orphanet:99001] +synonym: "butterfly-shaped pigment dystrophy" EXACT [icd11.foundation:1639469808, Orphanet:99001] synonym: "butterfly-shaped pigmentary macular dystrophy" EXACT [Orphanet:99001] xref: GARD:16890 {source="MONDO:GARD"} xref: icd11.foundation:1639469808 {source="MONDO:equivalentTo"} @@ -542552,13 +542648,13 @@ name: preeclampsia/eclampsia 1 subset: gard_rare {source="GARD:18389", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "hemolysis, elevated liver enzymes, and low platelet count" RELATED [OMIM:189800] -synonym: "hypertension, pregnancy-induced" RELATED [OMIM:189800] +synonym: "hemolysis, elevated liver enzymes, and low platelet count" RELATED [] +synonym: "hypertension, pregnancy-induced" RELATED [] synonym: "PEE1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:189800] synonym: "PREECLAMPSIA/eclampsia 1" EXACT [MONDO:Lexical, OMIM:189800] synonym: "PREG1" EXACT [OMIM:189800] synonym: "toxaemia of pregnancy" BROAD OMO:0003005 [] -synonym: "toxemia of pregnancy" BROAD [OMIM:189800] +synonym: "toxemia of pregnancy" BROAD [] xref: GARD:18389 {source="MONDO:GARD"} xref: MEDGEN:1807479 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:189800 {source="MONDO:equivalentTo"} @@ -542609,11 +542705,11 @@ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-520 id: MONDO:0100471 name: vitamin D deficiency def: "Abnormally low level of 25-hydroxyvitamin D in the blood." [NCIT:C114830] -synonym: "avitaminosis D" EXACT [DOID:10574, EFO:0003762] -synonym: "avitaminosis D, NOS" EXACT [DOID:10574, EFO:0003762] +synonym: "avitaminosis D" EXACT [EFO:0003762, icd11.foundation:2080031371] +synonym: "avitaminosis D, NOS" EXACT [EFO:0003762] synonym: "DEFIC VITAMIN D" EXACT [EFO:0003762] synonym: "deficiencies, vitamin D" EXACT [EFO:0003762] -synonym: "deficiency of vitamin D (disorder)" EXACT [DOID:10574] +synonym: "deficiency of vitamin D (disorder)" EXACT [] synonym: "deficiency, vitamin D" EXACT [EFO:0003762] synonym: "VITAMIN D DEFIC" EXACT [EFO:0003762] synonym: "vitamin D deficiencies" EXACT [EFO:0003762] @@ -542747,7 +542843,7 @@ subset: ordo_disorder {source="Orphanet:85138"} subset: orphanet_rare {source="Orphanet:85138"} subset: rare synonym: "autoimmune Addison's disease" EXACT [NCIT:C113814] -synonym: "autoimmune adrenalitis" RELATED [NCIT:C113814] +synonym: "autoimmune adrenalitis" RELATED [] xref: GARD:5740 {source="MONDO:GARD"} xref: icd11.foundation:1920929898 {source="Orphanet:85138", source="MONDO:equivalentTo", source="https://orcid.org/0000-0001-5208-3432"} xref: MEDGEN:543526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -542775,7 +542871,7 @@ name: extensively drug-resistant tuberculosis def: "A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid." [https://orcid.org/0000-0002-6670-9157, PMID:25918181] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "XDR-TB" EXACT ABBREVIATION [https://orcid.org/0000-0002-6670-9157, PMID:25918181] +synonym: "XDR-TB" EXACT ABBREVIATION [https://orcid.org/0000-0002-6670-9157, NCIT:C128417, PMID:25918181] xref: MEDGEN:321809 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:D054908 {source="MONDO:equivalentTo"} xref: NCIT:C128417 {source="MONDO:equivalentTo"} @@ -542862,8 +542958,8 @@ synonym: "DGLBC" EXACT ABBREVIATION [OMIM:137215] synonym: "diffuse gastric and lobular breast cancer syndrome" EXACT [OMIM:137215] synonym: "gastric cancer, familial diffuse breast cancer, lobular" EXACT [OMIM:137215] synonym: "gastric cancer, hereditary diffuse" EXACT [OMIM:137215] -synonym: "HDGC" EXACT ABBREVIATION [OMIM:137215] -synonym: "LBC" EXACT ABBREVIATION [OMIM:137215] +synonym: "HDGC" EXACT ABBREVIATION [] +synonym: "LBC" EXACT ABBREVIATION [] xref: OMIM:137215 {source="MONDO:equivalentTo"} is_a: MONDO:0020573 {source="https://www.clinicalgenome.org/affiliation/50014/"} ! inherited disease susceptibility relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1748 {source="OMIM:137215", source="https://www.clinicalgenome.org/affiliation/50014/"} ! CDH1 @@ -542876,7 +542972,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0100489 name: Graves disease, susceptibility to, 1 -synonym: "Graves disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:275000] +synonym: "Graves disease, susceptibility to, 1" EXACT [MONDO:Lexical] xref: MEDGEN:341307 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:275000 {source="MONDO:equivalentTo"} xref: UMLS:C1848795 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341307"} @@ -542890,9 +542986,9 @@ name: breasts and/or nipples, aplasia or hypoplasia of, 1 subset: gard_rare {source="GARD:15045", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "amastia" RELATED [OMIM:113700] -synonym: "amazia" RELATED [OMIM:113700] -synonym: "athelia" RELATED [MESH:C535565, OMIM:113700] +synonym: "amastia" RELATED [] +synonym: "amazia" RELATED [] +synonym: "athelia" RELATED [MESH:C535565] synonym: "BNAH1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:113700] synonym: "breasts and/or nipples, aplasia or hypoplasia of, 1" EXACT [MONDO:Lexical, OMIM:113700] xref: GARD:15045 {source="MONDO:GARD"} @@ -543212,8 +543308,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "familial ovarian carcinoma" EXACT [NCIT:C36102] -synonym: "familiar ovarian carcinoma" RELATED [DOID:6901] -synonym: "hereditary ovarian cancer" BROAD [NCIT:C36102] +synonym: "familiar ovarian carcinoma" RELATED [] +synonym: "hereditary ovarian cancer" BROAD [] synonym: "hereditary ovarian carcinoma" EXACT [MONDO:patterns/hereditary, NCIT:C36102] xref: DOID:6901 {source="MONDO:equivalentTo"} xref: MEDGEN:272713 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -543315,8 +543411,8 @@ id: MONDO:0100522 name: hypotrichosis 4 subset: gard_rare {source="GARD:15078", source="MONDO:GARD"} subset: rare -synonym: "hypotrichosis 4" EXACT [MONDO:0007806, MONDO:Lexical, OMIM:146550] -synonym: "hypotrichosis type 4" EXACT [DOID:0110701, MONDORULE:1, OMIM:146550] +synonym: "hypotrichosis 4" EXACT [DOID:0110701, MONDO:0007806, MONDO:Lexical, OMIM:146550] +synonym: "hypotrichosis type 4" EXACT [MONDORULE:1] synonym: "hypotrichosis, Marie Unna type, 1" EXACT [DOID:0110701, OMIM:146550] synonym: "HYPT4" EXACT ABBREVIATION [DOID:0110701, MONDO:Lexical, OMIM:146550] synonym: "Marie Unna hereditary hypotrichosis 1" EXACT [DOID:0110701, OMIM:146550] @@ -543391,9 +543487,9 @@ def: "A partial deletion of the short arm of chromosome 16 characterized by deve subset: gard_rare {source="GARD:17920", source="MONDO:GARD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:500055"} subset: rare -synonym: "16p13.2 microdeletion syndrome" EXACT [Orphanet:500055] -synonym: "chromosome 16P13.2 deletion syndrome" EXACT [OMIM:616863] -synonym: "chromosome 16p13.2 deletion syndrome" EXACT [OMIM:616863] +synonym: "16p13.2 microdeletion syndrome" EXACT [] +synonym: "chromosome 16P13.2 deletion syndrome" EXACT [Orphanet:500055] +synonym: "chromosome 16p13.2 deletion syndrome" EXACT [Orphanet:500055] synonym: "Del(16)(p13.2)" EXACT [Orphanet:500055] synonym: "monosomy 16p13.2" EXACT [Orphanet:500055] xref: GARD:17920 {source="MONDO:GARD"} @@ -543437,15 +543533,15 @@ id: MONDO:0100531 name: Emery-Dreifuss muscular dystrophy 1, X-linked subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "EDMD1" EXACT ABBREVIATION [DOID:0070246, MONDO:Lexical, OMIM:310300, Orphanet:98863] -synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [OMIM:310300, OMIM:genemap2] -synonym: "EMD1" EXACT ABBREVIATION [DOID:0070246] -synonym: "Emery-Dreifuss muscular dystrophy 1, X-linked" EXACT [OMIM:310300] -synonym: "Humeroperoneal neuromuscular disease" RELATED [OMIM:310300] +synonym: "EDMD1" EXACT ABBREVIATION [DOID:0070246, MONDO:Lexical, NCIT:C168730, OMIM:310300] +synonym: "Ehlers-Danlos syndrome, classic-like, 1" RELATED [] +synonym: "EMD1" EXACT ABBREVIATION [DOID:0070246, OMIM:310300] +synonym: "Emery-Dreifuss muscular dystrophy 1, X-linked" EXACT [DOID:0070246, NCIT:C168730, OMIM:310300] +synonym: "Humeroperoneal neuromuscular disease" RELATED [] synonym: "humeroperoneal neuromuscular disease" EXACT [DOID:0070246] -synonym: "Humeroperoneal neuromuscular disease, formerly" RELATED [OMIM:310300] -synonym: "scapuloperoneal syndrome, X-linked" EXACT [DOID:0070246, OMIM:310300] -synonym: "scapuloperoneal syndrome, X-linked, formerly" RELATED [OMIM:310300] +synonym: "Humeroperoneal neuromuscular disease, formerly" RELATED [] +synonym: "scapuloperoneal syndrome, X-linked" EXACT [DOID:0070246] +synonym: "scapuloperoneal syndrome, X-linked, formerly" RELATED [] xref: DOID:0070246 {source="MONDO:equivalentTo"} xref: MEDGEN:1720295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C168730 {source="MONDO:equivalentTo"} @@ -543525,7 +543621,7 @@ id: MONDO:0100537 name: plasminogen deficiency, type II subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "plasminogen deficiency, type 2" EXACT [OMIM:217090] +synonym: "plasminogen deficiency, type 2" EXACT [] xref: OMIM:217090 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0002242 {source="OMIM:217090"} ! coagulation protein disease is_a: MONDO:0003847 {source="OMIM:217090"} ! hereditary disease @@ -543605,7 +543701,7 @@ name: age-related clonal hematopoiesis def: "A precancerous condition characterized by the gradual, clonal expansion of hematopoietic stem and progenitor cells carrying specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. It is associated with an increased risk of developing hematologic cancers." [NCIT:C155821] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ARCH" EXACT ABBREVIATION [NCIT:C155821] +synonym: "ARCH" EXACT ABBREVIATION [] xref: MEDGEN:1670618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: UMLS:C4722404 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1670618"} is_a: MONDO:0100542 {source="NCIT:C155821"} ! clonal hematopoiesis @@ -543661,7 +543757,7 @@ id: MONDO:0100549 name: focal nodular hyperplasia def: "A benign tumor of the liver, characterized by hyperplastic growth of hepatocytes and a central fibrovascular scar." [PMID:23396642, PMID:35687520] synonym: "FNH" EXACT ABBREVIATION [https://orcid.org/0000-0001-8134-3037] -synonym: "focal nodular hyperplasia of the liver" EXACT [NCIT:C4916] +synonym: "focal nodular hyperplasia of the liver" EXACT [] synonym: "hepatic focal nodular hyperplasia" EXACT [https://orcid.org/0000-0001-8134-3037] xref: NCIT:C4916 is_a: MONDO:0859689 {source="https://orcid.org/0000-0001-8134-3037"} ! hepatobiliary benign neoplasm @@ -543731,7 +543827,7 @@ name: OPTN-related open angle glaucoma def: "Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene." [https://clinicalgenome.org/affiliation/40077/] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "glaucoma 1, open angle, E" EXACT [OMIM:137760] +synonym: "glaucoma 1, open angle, E" EXACT [] synonym: "OPTN-related open angle glaucoma" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40077/] xref: MEDGEN:87389 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:137760 {source="MONDO:equivalentTo"} @@ -544018,7 +544114,7 @@ def: "An extremely rare adenosarcoma that arises from the uterine ligament." [NC subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "adenosarcoma of uterine ligament" EXACT [] -synonym: "uterine ligament adenosarcoma" EXACT [MONDO:patterns/location, NCIT:C102570] +synonym: "uterine ligament adenosarcoma" EXACT [MONDO:patterns/location] xref: NCIT:C102570 {source="MONDO:equivalentTo"} is_a: MONDO:0003612 {source="NCIT:C102570"} ! uterine ligament cancer is_a: MONDO:0005636 {source="NCIT:C102570"} ! adenosarcoma @@ -544028,8 +544124,8 @@ intersection_of: disease_has_location UBERON:0036262 ! uterine ligament [Term] id: MONDO:0200001 name: obsolete chromate resistance -synonym: "CHR" RELATED ABBREVIATION [OMIM:118840] -synonym: "CHROMATE RESISTANCE" RELATED [OMIM:118840] +synonym: "CHR" RELATED ABBREVIATION [] +synonym: "CHROMATE RESISTANCE" RELATED [] xref: OMIM:118840 {source="MONDO:obsoleteEquivalent"} is_obsolete: true @@ -544117,7 +544213,7 @@ subset: gard_rare {source="GARD:13029", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "EAE" EXACT ABBREVIATION [GARD:0013029] -synonym: "Gleich syndrome" EXACT [GARD:0013029] +synonym: "Gleich syndrome" EXACT [GARD:0013029, icd11.foundation:1511563398] synonym: "Gleich's syndrome" EXACT [GARD:0013029] xref: GARD:13029 {source="MONDO:GARD"} xref: icd11.foundation:1511563398 {source="MONDO:equivalentTo"} @@ -544335,7 +544431,7 @@ name: familial idiopathic inflammatory myopathy def: "An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause." [MONDO:patterns/hereditary] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "familial idiopathic myositis" EXACT [OMIM:160750] +synonym: "familial idiopathic myositis" EXACT [] xref: MEDGEN:854861 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C000598744 {source="MONDO:equivalentTo"} xref: OMIM:160750 {source="MONDO:equivalentTo"} @@ -544399,7 +544495,7 @@ subset: ordo_subtype_of_a_disorder {source="Orphanet:585956"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "B acute lymphoblastic leukaemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT OMO:0003005 [] -synonym: "B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [NCIT:C80347] +synonym: "B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [DOID:0080649, NCIT:C80347] synonym: "B lymphoblastic leukaemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)" EXACT OMO:0003005 [] synonym: "B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)" EXACT [SCTID:450956008] synonym: "B-acute lymphoblastic leukaemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT OMO:0003005 [] @@ -544831,7 +544927,7 @@ def: "A chromosomal disorder consisting of the absence of one chromosome 8." [MO subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "chromosome 8 deletion" EXACT [MESH:C537823, MONDO:patterns/monosomy] -synonym: "loss of chromosome 8" RELATED [NCIT:C36535] +synonym: "loss of chromosome 8" RELATED [] xref: MESH:C537823 {source="MONDO:equivalentTo"} xref: NCIT:C36535 {source="MONDO:relatedTo"} intersection_of: MONDO:0020639 ! monosomy @@ -544900,8 +544996,8 @@ name: neuroblastoma, susceptibility to, 2 subset: inferred_rare subset: rare synonym: "NBLST2" EXACT ABBREVIATION [OMIM:613013] -synonym: "neuroblastoma, susceptibility to, type 2" EXACT [OMIM:613013] -synonym: "susceptibility to neuroblastoma 2" EXACT [OMIM:613013] +synonym: "neuroblastoma, susceptibility to, type 2" EXACT [] +synonym: "susceptibility to neuroblastoma 2" EXACT [] xref: MEDGEN:416607 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613013 {source="MONDO:equivalentTo"} xref: UMLS:C2751682 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416607"} @@ -545010,7 +545106,7 @@ id: MONDO:0700051 name: liver abscess (disease) def: "An abscess that involves the liver." [MONDO:patterns/location] synonym: "abscess of liver" EXACT [MONDO:patterns/location] -synonym: "hepatic abscess" EXACT [https://orcid.org/0000-0002-2658-1136, https://orcid.org/0000-0002-2825-0621] +synonym: "hepatic abscess" EXACT [https://orcid.org/0000-0002-2658-1136, https://orcid.org/0000-0002-2825-0621, NCIT:C99089] xref: NCIT:C99089 {source="MONDO:equivalentTo"} xref: SCTID:27916005 {source="MONDO:equivalentTo"} is_a: MONDO:0005227 {source="https://orcid.org/0000-0002-2658-1136", source="https://orcid.org/0000-0002-2825-0621"} ! abscess @@ -545320,9 +545416,9 @@ def: "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the d subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ETFA deficiency" EXACT [OMIM:231680] -synonym: "GA2A" EXACT ABBREVIATION [OMIM:231680] -synonym: "glutaric acidemia 2A" EXACT [OMIM:231680] +synonym: "ETFA deficiency" EXACT [] +synonym: "GA2A" EXACT ABBREVIATION [] +synonym: "glutaric acidemia 2A" EXACT [] synonym: "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFA" EXACT [MONDO:patterns/disease_series_by_gene] xref: MEDGEN:479784 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:231680 {source="MONDO:includedEntryInOMIM"} @@ -545340,9 +545436,9 @@ name: glutaric acidemia IIb def: "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ETFB deficiency" EXACT [OMIM:231680] -synonym: "GA2B" EXACT ABBREVIATION [OMIM:231680] -synonym: "glutaric acidemia 2B" EXACT [OMIM:231680] +synonym: "ETFB deficiency" EXACT [] +synonym: "GA2B" EXACT ABBREVIATION [] +synonym: "glutaric acidemia 2B" EXACT [] synonym: "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFB" EXACT [MONDO:patterns/disease_series_by_gene] xref: MEDGEN:479785 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:231680 {source="MONDO:includedEntryInOMIM"} @@ -545375,9 +545471,9 @@ name: glutaric acidemia IIc def: "Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ETFDH deficiency" EXACT [OMIM:231680] -synonym: "GA2C" EXACT ABBREVIATION [OMIM:231680] -synonym: "glutaric acidemia 2C" EXACT [OMIM:231680] +synonym: "ETFDH deficiency" EXACT [] +synonym: "GA2C" EXACT ABBREVIATION [] +synonym: "glutaric acidemia 2C" EXACT [] synonym: "multiple acyl-CoA dehydrogenase deficiency caused by mutation in ETFDH" EXACT [MONDO:patterns/disease_series_by_gene] xref: MEDGEN:479786 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:231680 {source="MONDO:includedEntryInOMIM"} @@ -545462,29 +545558,29 @@ subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HMD - hyaline membrane disease" EXACT [DOID:12716] -synonym: "hyaline membrane disease" EXACT [DOID:12716, Orphanet:70587] -synonym: "infant acute respiratory distress syndrome" EXACT [Orphanet:70587] -synonym: "infant ARDS" EXACT [Orphanet:70587] -synonym: "infant respiratory distress syndrome" EXACT [Orphanet:70587] +synonym: "hyaline membrane disease" EXACT [DOID:12716] +synonym: "infant acute respiratory distress syndrome" EXACT [] +synonym: "infant ARDS" EXACT [] +synonym: "infant respiratory distress syndrome" EXACT [] synonym: "neonatal respiratory distress" EXACT [NCIT:C27560] -synonym: "neonatal respiratory distress syndrome" EXACT [DOID:12716, GARD:0000112, NCIT:C27560, Orphanet:70587] -synonym: "newborns (RDS), respiratory distress syndrome Of" EXACT [NCIT:C27560] +synonym: "neonatal respiratory distress syndrome" EXACT [DOID:12716, GARD:0000112, NCIT:C27560] +synonym: "newborns (RDS), respiratory distress syndrome Of" EXACT [] synonym: "NRDS" RELATED ABBREVIATION [GARD:0000112] synonym: "pulmonary hyaline membrane disease" EXACT [DOID:12716] synonym: "pulmonary hypoperfusion syndrome of newborn" EXACT [DOID:12716] -synonym: "RDS" BROAD ABBREVIATION [NCIT:C27560] +synonym: "RDS" BROAD ABBREVIATION [] synonym: "RDS - infants" RELATED [GARD:0000112] -synonym: "RDS Of newborns" EXACT [NCIT:C27560] -synonym: "RDS of prematurity" NARROW [OMIM:267450] -synonym: "RDS, respiratory distress syndrome Of newborns" EXACT [NCIT:C27560] -synonym: "respiratory distress syndrome" BROAD [NCIT:C27560] -synonym: "respiratory distress syndrome in premature infants" NARROW [OMIM:267450] +synonym: "RDS Of newborns" EXACT [] +synonym: "RDS of prematurity" NARROW [] +synonym: "RDS, respiratory distress syndrome Of newborns" EXACT [] +synonym: "respiratory distress syndrome" BROAD [] +synonym: "respiratory distress syndrome in premature infants" NARROW [] synonym: "respiratory distress syndrome in the newborn" EXACT [NCIT:C27560] synonym: "respiratory distress syndrome of newborn" EXACT [DOID:12716] -synonym: "respiratory distress syndrome Of newborns" EXACT [NCIT:C27560] -synonym: "respiratory distress syndrome Of newborns (RDS)" EXACT [NCIT:C27560] +synonym: "respiratory distress syndrome Of newborns" EXACT [] +synonym: "respiratory distress syndrome Of newborns (RDS)" EXACT [] synonym: "respiratory distress syndrome, infant" RELATED [GARD:0000112] -synonym: "syndrome Of newborns (RDS), respiratory distress" EXACT [NCIT:C27560] +synonym: "syndrome Of newborns (RDS), respiratory distress" EXACT [] xref: DOID:12716 {source="MONDO:equivalentTo", source="EFO:1000644"} xref: EFO:1000644 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: ICD10CM:P22.0 {source="Orphanet:70587", source="DOID:12716", source="Orphanet:70587/e"} @@ -545577,7 +545673,7 @@ subset: gard_rare {source="GARD:5436", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Usher syndrome, type 1B" EXACT [OMIM:276900, OMIM:genemap2] +synonym: "Usher syndrome, type 1B" EXACT [] xref: GARD:5436 {source="MONDO:GARD"} xref: MEDGEN:419358 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C536485 {source="MONDO:equivalentTo"} @@ -545600,7 +545696,7 @@ subset: orphanet_rare {source="Orphanet:98810"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "DYT-MR-1" RELATED [GARD:0008722] -synonym: "paroxysmal non-kinesigenic dyskinesia" RELATED [Orphanet:98810] +synonym: "paroxysmal non-kinesigenic dyskinesia" RELATED [] synonym: "Paroxysomal nonkinesigenic dyskinesia" RELATED [GARD:0008722] synonym: "Paroxystic non-kinesigenic choreoathetosis" EXACT [Orphanet:98810] xref: GARD:8722 {source="MONDO:GARD"} @@ -545618,16 +545714,16 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "choreoathetosis, familial paroxysmal" RELATED [OMIM:118800] -synonym: "choreoathetosis, nonkinesigenic" RELATED [OMIM:118800] -synonym: "dystonia 8" RELATED [OMIM:118800] -synonym: "mount-reback syndrome" RELATED [OMIM:118800] +synonym: "choreoathetosis, familial paroxysmal" RELATED [] +synonym: "choreoathetosis, nonkinesigenic" RELATED [] +synonym: "dystonia 8" RELATED [] +synonym: "mount-reback syndrome" RELATED [] synonym: "paroxysmal dyskinesia caused by mutation in PNKD" EXACT [MONDO:design_pattern] -synonym: "paroxysmal dystonic choreoathetosis" RELATED [OMIM:118800] -synonym: "paroxysmal nonkinesigenic dyskinesia 1" EXACT [MONDO:0007326, MONDO:Lexical, OMIM:118800] -synonym: "paroxysmal nonkinesigenic dyskinesia type 1" EXACT [DOID:0090049, MONDORULE:1, OMIM:118800] +synonym: "paroxysmal dystonic choreoathetosis" RELATED [] +synonym: "paroxysmal nonkinesigenic dyskinesia 1" EXACT [DOID:0090049, MONDO:0007326, MONDO:Lexical, OMIM:118800] +synonym: "paroxysmal nonkinesigenic dyskinesia type 1" EXACT [MONDORULE:1] synonym: "PNKD paroxysmal dyskinesia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "PNKD1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:118800] +synonym: "PNKD1" RELATED ABBREVIATION [MONDO:Lexical] synonym: "PxMD-PNKD" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155] xref: DOID:0090049 {source="MONDO:equivalentTo"} xref: ICD10CM:G24.8 {source="Orphanet:98810/attributed", source="Orphanet:98810/ntbt", source="Orphanet:98810", source="DOID:0090049"} @@ -545653,12 +545749,12 @@ def: "An autosomal dominant condition caused by mutation(s) in the LGI1 gene, en subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ADLTE" EXACT ABBREVIATION [OMIM:600512] -synonym: "ADPEAF" EXACT ABBREVIATION [OMIM:600512] -synonym: "epilepsy, familial temporal lobe, type 1" EXACT [OMIM:600512] +synonym: "ADLTE" EXACT ABBREVIATION [] +synonym: "ADPEAF" EXACT ABBREVIATION [] +synonym: "epilepsy, familial temporal lobe, type 1" EXACT [] synonym: "epilepsy, lateral temporal lobe, autosomal dominant" EXACT [OMIM:600512] synonym: "epilepsy, partial, with auditory features" EXACT [OMIM:600512] -synonym: "ETL1" EXACT ABBREVIATION [OMIM:600512] +synonym: "ETL1" EXACT ABBREVIATION [DOID:0060748, NCIT:C141441, OMIM:600512] xref: DOID:0060748 {source="MONDO:equivalentTo"} xref: MEDGEN:1643229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: NCIT:C141441 {source="MONDO:equivalentTo"} @@ -545889,8 +545985,8 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "HTX5" EXACT ABBREVIATION [OMIM:270100] synonym: "NODAL visceral heterotaxy" EXACT [MONDO:patterns/disease_series_by_gene] -synonym: "situs inversus viscerum" EXACT DEPRECATED [OMIM:270100] -synonym: "SIV" EXACT DEPRECATED [OMIM:270100] +synonym: "situs inversus viscerum" EXACT DEPRECATED [] +synonym: "SIV" EXACT DEPRECATED [] synonym: "visceral heterotaxy caused by mutation in NODAL" EXACT [MONDO:patterns/disease_series_by_gene] xref: MEDGEN:501198 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:270100 {source="MONDO:equivalentTo"} @@ -545954,8 +546050,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "Dopamine transporter deficiency syndrome" EXACT [GARD:0010484] -synonym: "DTDS" EXACT ABBREVIATION [GARD:0010484] +synonym: "Dopamine transporter deficiency syndrome" EXACT [DOID:0070487, GARD:0010484] +synonym: "DTDS" EXACT ABBREVIATION [DOID:0070487, GARD:0010484] xref: DOID:0070487 {source="MONDO:equivalentTo"} is_a: MONDO:0005395 {source="DOID:0070487", source="PMID:21112253", source="PMID:24613933", source="PMID:28749637", source="https://clinicalgenome.org/affiliation/40097/"} ! movement disorder relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0700117 {source="MONDO:CLINGEN"} @@ -546877,7 +546973,7 @@ name: atypical dopamine transporter deficiency syndrome def: "A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development." [https://clinicalgenome.org/affiliation/40097/, PMID:28749637] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "atypical DTDS" EXACT ABBREVIATION [GARD:0010484] +synonym: "atypical DTDS" EXACT ABBREVIATION [DOID:0070488, GARD:0010484] xref: DOID:0070488 {source="MONDO:equivalentTo"} is_a: MONDO:0700117 {source="DOID:0070488", source="PMID:28749637", source="https://clinicalgenome.org/affiliation/40097/"} ! SLC6A3-related dopamine transporter deficiency syndrome property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 @@ -547072,9 +547168,9 @@ def: "Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia synonym: "carcinomatous meningitis" EXACT [PMID:29535794] synonym: "leptomeningeal carcinoma" EXACT [PMID:29535794] synonym: "leptomeningeal carcinomatosis" EXACT [PMID:29535794] -synonym: "leptomeningeal metastasis" EXACT [PMID:29535794] +synonym: "leptomeningeal metastasis" EXACT [NCIT:C3814, PMID:29535794] synonym: "meningeal carcinomatosis" EXACT [PMID:29535794] -synonym: "meningeal metastasis" EXACT [PMID:29535794] +synonym: "meningeal metastasis" EXACT [NCIT:C3814, PMID:29535794] synonym: "metastatic malignant neoplasm in the leptomeninges" EXACT [NCIT:C3814] xref: icd11.foundation:262966673 {source="MONDO:equivalentTo"} xref: MEDGEN:352817 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -547814,7 +547910,7 @@ name: post-treatment Lyme disease syndrome def: "A disorder caused by the infection in Lyme disease and manifesting after the original infection." [https://orcid.org/0000-0001-9310-0163, MONDO:patterns/post_infectious_disease, PMID:27407225, PMID:36958992, PMID:37209716] comment: Although generally more common in women and in persons who have a difficult early disease course, the underlying causes are not well understood, and biomarkers to identify patients at risk for such outcomes are lacking. Thus, treatment strategies are symptom-based and often ineffective, leaving patients and physicians in a quandary about how to restore health. synonym: "disorder due to consequences of Lyme disease" EXACT [MONDO:patterns/post_infectious_disease] -synonym: "PLDS" EXACT ABBREVIATION [NCIT:C119039, PMID:27407225, PMID:36958992] +synonym: "PLDS" EXACT ABBREVIATION [PMID:27407225, PMID:36958992] synonym: "post-Lyme disease" EXACT [MONDO:patterns/post_infectious_disease] synonym: "post-Lyme disease syndrome" EXACT [PMID:27407225] synonym: "post-treatment Lyme disease syndrome" EXACT [NCIT:C119039, PMID:36958992] @@ -547869,7 +547965,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800001 name: delayed sleep phase syndrome, susceptibility to def: "An inherited susceptibility or predisposition to developing delayed sleep phase syndrome." [MONDO:patterns/inherited_susceptibility] -synonym: "delayed sleep phase disorder, susceptibility to" EXACT [OMIM:614163, OMIM:genemap2] +synonym: "delayed sleep phase disorder, susceptibility to" EXACT [OMIM:614163] xref: MEDGEN:481621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614163 {source="MONDO:equivalentTo"} xref: UMLS:C3279991 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481621"} @@ -547891,10 +547987,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:1519"} subset: orphanet_rare {source="Orphanet:1519"} subset: rare synonym: "Brachycephalofrontonasal dysplasia" EXACT [OMIM:145420, Orphanet:1519] -synonym: "craniofrontonasal dysplasia, Teebi type" EXACT [Orphanet:1519] -synonym: "hypertelorism, Teebi type" BROAD [OMIM:145420] -synonym: "Teebi hypertelorism syndrome" BROAD [Orphanet:1519] -synonym: "Teebi syndrome" BROAD [Orphanet:1519] +synonym: "craniofrontonasal dysplasia, Teebi type" EXACT [] +synonym: "hypertelorism, Teebi type" BROAD [] +synonym: "Teebi hypertelorism syndrome" BROAD [] +synonym: "Teebi syndrome" BROAD [] xref: DOID:0080698 {source="MONDO:equivalentTo"} xref: GARD:957 {source="MONDO:GARD"} xref: ICD10CM:Q87.0 {source="Orphanet:1519/attributed", source="Orphanet:1519/ntbt", source="Orphanet:1519"} @@ -547919,22 +548015,22 @@ subset: orphanet_rare {source="Orphanet:661"} subset: rare synonym: "autonomic control, congenital failure of" EXACT [OMIM:209880] synonym: "CCHS" EXACT ABBREVIATION [DOID:0060731, MONDO:Lexical, OMIM:209880, Orphanet:661] -synonym: "CCHS with Hirschsprung disease" RELATED [OMIM:209880] -synonym: "central congenital hypoventilation syndrome" EXACT [DOID:0060731, Orphanet:661] -synonym: "central hypoventilation syndrome, congenital" RELATED [MONDO:Lexical, OMIM:209880] +synonym: "CCHS with Hirschsprung disease" RELATED [] +synonym: "central congenital hypoventilation syndrome" EXACT [DOID:0060731] +synonym: "central hypoventilation syndrome, congenital" RELATED [MONDO:Lexical] synonym: "congenital central alveolar hypoventilation syndrome" EXACT [DOID:0060731, Orphanet:661] synonym: "congenital central hypoventilation" EXACT [NCIT:C98889] -synonym: "congenital central hypoventilation syndrome" EXACT CLINGEN_LABEL [] +synonym: "congenital central hypoventilation syndrome" EXACT CLINGEN_LABEL [DOID:0060731, icd11.foundation:1750742010, NCIT:C98889, Orphanet:661] synonym: "congenital failure of autonomic control" RELATED [GARD:0008535] synonym: "congenital Ondine curse" EXACT [GARD:0008535] -synonym: "Haddad syndrome" RELATED [OMIM:209880] +synonym: "Haddad syndrome" RELATED [] synonym: "idiopathic congenital central alveolar hypoventilation" RELATED [GARD:0008535] synonym: "Ondine curse" EXACT [DOID:0060731, Orphanet:661] synonym: "Ondine curse (formerly)" RELATED [GARD:0008535] synonym: "Ondine curse, congenital" EXACT [OMIM:209880] -synonym: "Ondine syndrome" EXACT [DOID:0060731] +synonym: "Ondine syndrome" EXACT [DOID:0060731, icd11.foundation:1750742010, Orphanet:661] synonym: "Ondine's curse (formerly)" RELATED [GARD:0008535] -synonym: "Ondine-Hirschsprung disease" RELATED [OMIM:209880] +synonym: "Ondine-Hirschsprung disease" RELATED [] synonym: "primary alveolar hypoventilation" RELATED [GARD:0008535] xref: DOID:0060731 {source="MONDO:equivalentTo"} xref: GARD:8535 {source="MONDO:GARD"} @@ -547971,9 +548067,9 @@ subset: ordo_disorder {source="Orphanet:313808"} subset: orphanet_rare {source="Orphanet:313808"} subset: rare synonym: "adult-onset leukodystrophy with neuroaxonal spheroids" RELATED [GARD:0010981] -synonym: "Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia" EXACT [NORD:2033] -synonym: "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" EXACT [Orphanet:313808] -synonym: "ALSP" EXACT ABBREVIATION [Orphanet:313808] +synonym: "Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia" EXACT [DOID:0080523, NCIT:C153289, NORD:2033, Orphanet:313808] +synonym: "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" EXACT [DOID:0080523, NCIT:C153289, Orphanet:313808] +synonym: "ALSP" EXACT ABBREVIATION [NCIT:C153289, Orphanet:313808] synonym: "autosomal dominant leukoencephalopathy with neuroaxonal spheroids" EXACT [Orphanet:313808] synonym: "CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK100239/] synonym: "CSF1R-related ALSP" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK100239/] @@ -547983,16 +548079,16 @@ synonym: "familial progressive subcortical gliosis" EXACT [Orphanet:313808] synonym: "FPSG" EXACT ABBREVIATION [Orphanet:313808] synonym: "gliosis, familial progressive subcortical" EXACT [OMIM:221820] synonym: "GPSC" EXACT ABBREVIATION [Orphanet:313808] -synonym: "HDLS" BROAD ABBREVIATION [MONDO:Lexical, OMIM:221820, Orphanet:313808] +synonym: "HDLS" BROAD ABBREVIATION [MONDO:Lexical] synonym: "hereditary diffuse leukoencephalopathy with axonal spheroids" RELATED [GARD:0010981] -synonym: "hereditary diffuse leukoencephalopathy with spheroids" BROAD [Orphanet:313808] +synonym: "hereditary diffuse leukoencephalopathy with spheroids" BROAD [] synonym: "leukoencephalopathy with neuroaxonal spheroids, autosomal dominant" EXACT [OMIM:221820] synonym: "leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia" EXACT [OMIM:221820] -synonym: "leukoencephalopathy, diffuse hereditary, with spheroids" BROAD [MONDO:Lexical, OMIM:221820] -synonym: "leukoencephalopathy, hereditary diffuse, with spheroids" BROAD [OMIM:221820] +synonym: "leukoencephalopathy, diffuse hereditary, with spheroids" BROAD [MONDO:Lexical] +synonym: "leukoencephalopathy, hereditary diffuse, with spheroids" BROAD [] synonym: "neuroaxonal leukodystrophy" RELATED [GARD:0010981] -synonym: "pigmentary orthochromatic leukodystrophy" EXACT [Orphanet:313808] -synonym: "POLD" EXACT ABBREVIATION [Orphanet:313808] +synonym: "pigmentary orthochromatic leukodystrophy" EXACT [NCIT:C153289, Orphanet:313808] +synonym: "POLD" EXACT ABBREVIATION [NCIT:C153289, Orphanet:313808] synonym: "subcortical gliosis of Neumann" EXACT [OMIM:221820, Orphanet:313808] xref: DOID:0080523 {source="MONDO:equivalentTo"} xref: GARD:10981 {source="MONDO:GARD"} @@ -548026,7 +548122,7 @@ subset: orphanet_rare {source="Orphanet:324588"} subset: rare synonym: "ADCY5-related dyskinesia" RELATED [GARD:0012722] synonym: "dyskinesia, familial, with facial myokymia" EXACT [MONDO:Lexical, OMIM:606703] -synonym: "FDFM" EXACT ABBREVIATION [MONDO:Lexical, OMIM:606703, Orphanet:324588] +synonym: "FDFM" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:324588] xref: GARD:12722 {source="MONDO:GARD"} xref: ICD10CM:G51.4 {source="Orphanet:324588/attributed", source="Orphanet:324588/ntbt", source="MONDO:relatedTo", source="Orphanet:324588"} xref: MEDGEN:1790407 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -548050,21 +548146,21 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1296"} subset: ordo_disorder {source="Orphanet:2032"} subset: orphanet_rare {source="Orphanet:2032"} subset: rare -synonym: "CFA" EXACT ABBREVIATION [Orphanet:2032] -synonym: "cryptogenic fibrosing alveolitis" EXACT [Orphanet:2032] +synonym: "CFA" EXACT ABBREVIATION [] +synonym: "cryptogenic fibrosing alveolitis" EXACT [ICD10CM:J84.112] synonym: "familial idiopathic pulmonary fibrosis" RELATED [GARD:0008609] synonym: "fibrocystic pulmonary dysplasia" EXACT [OMIM:178500] synonym: "fibrosing alveolitis" RELATED [GARD:0008609] synonym: "fibrosing alveolitis, cryptogenic" EXACT [OMIM:178500] -synonym: "Hamman-rich disease" NARROW [OMIM:178500] -synonym: "Idiopathic Pulmonary Fibrosis" EXACT [NORD:1296] +synonym: "Hamman-rich disease" NARROW [] +synonym: "Idiopathic Pulmonary Fibrosis" EXACT [ICD10CM:J84.112, NCIT:C35716, NORD:1296, Orphanet:2032] synonym: "idiopathic pulmonary fibrosis, familial" EXACT [OMIM:178500] synonym: "ILD2" EXACT ABBREVIATION [OMIM:178500] synonym: "interstitial pneumonitis, usual" EXACT [OMIM:178500] -synonym: "IPF" EXACT ABBREVIATION [MONDO:Lexical, OMIM:178500] -synonym: "pulmonary fibrosis, idiopathic" RELATED [MONDO:Lexical, OMIM:178500] -synonym: "UIP" EXACT ABBREVIATION [Orphanet:2032] -synonym: "usual interstitial pneumonia" EXACT [Orphanet:2032] +synonym: "IPF" EXACT ABBREVIATION [MONDO:Lexical, NCIT:C35716, Orphanet:2032] +synonym: "pulmonary fibrosis, idiopathic" RELATED [MONDO:Lexical] +synonym: "UIP" EXACT ABBREVIATION [] +synonym: "usual interstitial pneumonia" EXACT [] xref: DOID:0060971 {source="MONDO:equivalentTo"} xref: GARD:8609 {source="MONDO:GARD"} xref: ICD10CM:J84.1 {source="Orphanet:2032/ntbt", source="Orphanet:2032"} @@ -548109,9 +548205,9 @@ subset: rare synonym: "CID-MIA/early-onset IBD" EXACT [Orphanet:436252] synonym: "combined immunodeficiency-enteropathy spectrum" EXACT [Orphanet:436252] synonym: "familial intestinal polyatresia syndrome" EXACT [OMIM:243150] -synonym: "FIPA" EXACT ABBREVIATION [OMIM:243150] -synonym: "intestinal atresia, multiple" BROAD [OMIM:243150] -synonym: "MINAT" EXACT ABBREVIATION [OMIM:243150] +synonym: "FIPA" EXACT ABBREVIATION [] +synonym: "intestinal atresia, multiple" BROAD [] +synonym: "MINAT" EXACT ABBREVIATION [] synonym: "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency" EXACT [OMIM:243150] xref: GARD:17731 {source="MONDO:GARD"} xref: MEDGEN:1806192 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -548266,9 +548362,9 @@ subset: rare synonym: "fetal hypokinesia sequence due to restrictive dermopathy" EXACT [OMIM:275210] synonym: "foetal hypokinesia sequence due to restrictive dermopathy" EXACT OMO:0003005 [] synonym: "hyperkeratosis-contracture syndrome" EXACT [OMIM:275210] -synonym: "restrictive dermopathy" BROAD [Orphanet:1662] +synonym: "restrictive dermopathy" BROAD [] synonym: "restrictive dermopathy 1, lethal" EXACT [OMIM:275210] -synonym: "restrictive dermopathy, lethal" RELATED [OMIM:275210] +synonym: "restrictive dermopathy, lethal" RELATED [] synonym: "tight skin contracture syndrome, lethal" EXACT [OMIM:275210] xref: DOID:0070369 {source="MONDO:equivalentTo"} xref: ICD10CM:Q82.8 {source="Orphanet:1662", source="Orphanet:1662/attributed", source="Orphanet:1662/ntbt", source="DOID:0060762"} @@ -548301,18 +548397,18 @@ synonym: "neonatal Schwartz-Jampel syndrome type 2" RELATED [GARD:0005045] synonym: "Schwartz-Jampel syndrome neonatal" EXACT [GARD:0005045] synonym: "Schwartz-Jampel syndrome type 2" EXACT [Orphanet:3206] synonym: "Schwartz-Jampel syndrome, neonatal" EXACT [OMIM:601559] -synonym: "Schwartz-Jampel syndrome, type 2" RELATED [OMIM:601559] +synonym: "Schwartz-Jampel syndrome, type 2" RELATED [] synonym: "SJS2" EXACT ABBREVIATION [Orphanet:3206] -synonym: "STUVE-Wiedemann syndrome" BROAD [OMIM:601559] +synonym: "STUVE-Wiedemann syndrome" BROAD [] synonym: "Stuve-Wiedemann syndrome" BROAD [] -synonym: "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome" EXACT [OMIM:601559, OMIM:genemap2] -synonym: "Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome" RELATED [OMIM:601559] -synonym: "STWS" EXACT ABBREVIATION [OMIM:601559] -synonym: "Stws" BROAD [OMIM:601559] +synonym: "Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome" EXACT [] +synonym: "Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome" RELATED [] +synonym: "STWS" EXACT ABBREVIATION [OMIM:601559, Orphanet:3206] +synonym: "Stws" BROAD [] synonym: "Stüve-Wiedemann dysplasia" EXACT [Orphanet:3206] -synonym: "Stüve-Wiedemann syndrome" BROAD [Orphanet:3206] -synonym: "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome" EXACT [Orphanet:3206] -synonym: "SWS" BROAD ABBREVIATION [OMIM:601559] +synonym: "Stüve-Wiedemann syndrome" BROAD [] +synonym: "Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome" EXACT [] +synonym: "SWS" BROAD ABBREVIATION [] xref: GARD:5045 {source="MONDO:GARD"} xref: ICD10CM:Q78.8 {source="Orphanet:3206", source="Orphanet:3206/attributed", source="Orphanet:3206/ntbt"} xref: MEDGEN:1803541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -548340,22 +548436,22 @@ subset: nord_rare {source="MONDO:NORD", source="NORD:1919"} subset: ordo_disorder {source="Orphanet:404454"} subset: orphanet_rare {source="Orphanet:404454"} subset: rare -synonym: "alacrimia - choreoathetosis - liver dysfunction syndrome" RELATED [Orphanet:404454] -synonym: "CDDG" BROAD ABBREVIATION [MONDO:Lexical, OMIM:615273] -synonym: "CDG IV" RELATED [OMIM:615273] -synonym: "CDG IV, formerly" RELATED [OMIM:615273] +synonym: "alacrimia - choreoathetosis - liver dysfunction syndrome" RELATED [] +synonym: "CDDG" BROAD ABBREVIATION [MONDO:Lexical] +synonym: "CDG IV" RELATED [] +synonym: "CDG IV, formerly" RELATED [] synonym: "CDG1V" EXACT ABBREVIATION [GARD:0012315] -synonym: "congenital disorder of deglycosylation" BROAD [DOID:0060728, MONDO:Lexical, OMIM:615273] -synonym: "congenital disorder of deglycosylation 1" EXACT [OMIM:615273, OMIM:genemap2] +synonym: "congenital disorder of deglycosylation" BROAD [MONDO:Lexical] +synonym: "congenital disorder of deglycosylation 1" EXACT [DOID:0060728, OMIM:615273] synonym: "congenital disorder of deglycosylation;CDDG" BROAD [GARD:0012315] synonym: "congenital disorder of glycosylation type IV" EXACT [DOID:0060728, GARD:0012315] -synonym: "congenital disorder of glycosylation, type IV" RELATED [OMIM:615273] -synonym: "congenital disorder of glycosylation, type IV, formerly" RELATED [OMIM:615273] +synonym: "congenital disorder of glycosylation, type IV" RELATED [] +synonym: "congenital disorder of glycosylation, type IV, formerly" RELATED [] synonym: "deficiency of N-glycanase 1" EXACT [DOID:0060728] -synonym: "NGLY1 Deficiency" EXACT [NORD:1919] +synonym: "NGLY1 Deficiency" EXACT [NORD:1919, Orphanet:404454] synonym: "NGLY1 deficiency" EXACT [Orphanet:404454] -synonym: "NGLY1-CDDG" EXACT [DOID:0060728, Orphanet:404454] -synonym: "NGLY1-deficiency" EXACT CLINGEN_LABEL [] +synonym: "NGLY1-CDDG" EXACT ABBREVIATION [DOID:0060728, Orphanet:404454] +synonym: "NGLY1-deficiency" EXACT CLINGEN_LABEL [DOID:0060728] xref: DOID:0060728 {source="MONDO:equivalentTo"} xref: GARD:12315 {source="MONDO:GARD"} xref: ICD10CM:E77.8 {source="Orphanet:404454/attributed", source="Orphanet:404454/ntbt", source="Orphanet:404454", source="DOID:0060728"} @@ -548385,13 +548481,13 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:674762"} subset: orphanet_rare {source="Orphanet:674762"} subset: rare -synonym: "AISBL" BROAD ABBREVIATION [OMIM:616744] -synonym: "autoinflammatory syndrome, familial, Behcet-like" BROAD [OMIM:616744] +synonym: "AISBL" BROAD ABBREVIATION [] +synonym: "autoinflammatory syndrome, familial, Behcet-like" BROAD [] synonym: "autoinflammatory syndrome, familial, Behcet-like 1" EXACT [OMIM:616744] -synonym: "Behçet-like disease due to HA20" EXACT [Orphanet:476102] -synonym: "Behçet-like disease due to haploinsufficiency of A20" EXACT [Orphanet:476102] +synonym: "Behçet-like disease due to HA20" EXACT [] +synonym: "Behçet-like disease due to haploinsufficiency of A20" EXACT [] synonym: "hereditary paediatric Behçet-like disease" EXACT OMO:0003005 [] -synonym: "hereditary pediatric Behçet-like disease" EXACT [Orphanet:476102] +synonym: "hereditary pediatric Behçet-like disease" EXACT [] xref: DOID:0080944 {source="MONDO:equivalentTo"} xref: GARD:17848 {source="MONDO:GARD"} xref: MEDGEN:898541 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -548417,7 +548513,7 @@ subset: orphanet_rare {source="Orphanet:171706"} subset: rare synonym: "short stature-delayed bone age due to thyroid hormone metabolism deficiency" EXACT [Orphanet:171706] synonym: "THMA1" EXACT ABBREVIATION [OMIM:609698] -synonym: "thyroid hormone metabolism, abnormal" BROAD [OMIM:609698] +synonym: "thyroid hormone metabolism, abnormal" BROAD [] xref: GARD:17068 {source="MONDO:GARD"} xref: ICD10CM:E03.1 {source="Orphanet:171706/attributed", source="Orphanet:171706/ntbt", source="Orphanet:171706"} xref: MEDGEN:1801974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -548438,9 +548534,9 @@ subset: gard_rare {source="GARD:18271", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "autosomal dominant macrothrombocytopenia caused by mutation in TUBB1" EXACT [MONDO:design_pattern] -synonym: "autosomal dominant macrothrombocytopenia TUBB1-related" RELATED [OMIM:613112] -synonym: "macrothrombocytopenia, autosomal dominant, TUBB1-related" EXACT [OMIM:613112] -synonym: "MACTHC1" EXACT ABBREVIATION [OMIM:613112] +synonym: "autosomal dominant macrothrombocytopenia TUBB1-related" RELATED [] +synonym: "macrothrombocytopenia, autosomal dominant, TUBB1-related" EXACT [] +synonym: "MACTHC1" EXACT ABBREVIATION [DOID:0090102, OMIM:613112] synonym: "TUBB1 autosomal dominant macrothrombocytopenia" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] xref: DOID:0090102 {source="MONDO:equivalentTo"} xref: GARD:18271 {source="MONDO:GARD"} @@ -548517,9 +548613,9 @@ id: MONDO:0800084 name: obsolete primary bone dysplasia with increased bone density subset: ordo_group_of_disorders {source="Orphanet:93444"} subset: otar {source="MONDO:OTAR"} -synonym: "primary osteodysplasia with increased bone density" EXACT [Orphanet:93444] -synonym: "primary skeletal dysplasia with increased bone density" EXACT [Orphanet:93444] -synonym: "sclerosing bone dysplasia" EXACT [Orphanet:93444] +synonym: "primary osteodysplasia with increased bone density" EXACT [] +synonym: "primary skeletal dysplasia with increased bone density" EXACT [] +synonym: "sclerosing bone dysplasia" EXACT [] xref: Orphanet:93444 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -548546,8 +548642,8 @@ id: MONDO:0800086 name: obsolete primary bone dysplasia with multiple joint dislocations subset: ordo_group_of_disorders {source="Orphanet:93441"} subset: otar {source="MONDO:OTAR"} -synonym: "primary osteodysplasia with multiple joint dislocations" EXACT [Orphanet:93441] -synonym: "primary skeletal dysplasia with multiple joint dislocations" EXACT [Orphanet:93441] +synonym: "primary osteodysplasia with multiple joint dislocations" EXACT [] +synonym: "primary skeletal dysplasia with multiple joint dislocations" EXACT [] xref: icd11.foundation:689620137 {source="Orphanet:93441", source="MONDO:obsoleteEquivalent", source="https://orcid.org/0000-0001-5208-3432"} xref: Orphanet:93441 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} @@ -548590,9 +548686,9 @@ id: MONDO:0800089 name: obsolete primary bone dysplasia with disorganized development of skeletal components subset: ordo_group_of_disorders {source="Orphanet:93450"} synonym: "primary osteodysplasia with disorganised development of skeletal components" EXACT OMO:0003005 [] -synonym: "primary osteodysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450] +synonym: "primary osteodysplasia with disorganized development of skeletal components" EXACT [] synonym: "primary skeletal dysplasia with disorganised development of skeletal components" EXACT OMO:0003005 [] -synonym: "primary skeletal dysplasia with disorganized development of skeletal components" EXACT [Orphanet:93450] +synonym: "primary skeletal dysplasia with disorganized development of skeletal components" EXACT [] xref: Orphanet:93450 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -548629,7 +548725,7 @@ is_obsolete: true id: MONDO:0800092 name: obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy subset: ordo_group_of_disorders {source="Orphanet:498445"} -synonym: "genetic inflammatory or rheumatoid-like osteoarthropathy" EXACT [Orphanet:498445] +synonym: "genetic inflammatory or rheumatoid-like osteoarthropathy" EXACT [] xref: Orphanet:498445 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI @@ -548806,8 +548902,8 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "IMD105" EXACT ABBREVIATION [OMIM:619924] -synonym: "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:619924] -synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" RELATED [OMIM:619924] +synonym: "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" RELATED [] +synonym: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" RELATED [] xref: MEDGEN:1809425 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619924 {source="MONDO:equivalentTo"} xref: UMLS:C5677005 {source="MEDGEN:1809425", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -549370,14 +549466,14 @@ subset: ordo_malformation_syndrome {source="Orphanet:1571"} subset: orphanet_rare {source="Orphanet:1571"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "KNO" RELATED [OMIM:267750] +synonym: "KNO" RELATED [] synonym: "KNO1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:267750] synonym: "KNOBLOCH syndrome 1" EXACT [MONDO:Lexical, OMIM:267750] -synonym: "Knobloch syndrome type 1" EXACT [MONDORULE:1, OMIM:267750] -synonym: "Knobloch syndrome, type 1" EXACT [OMIM:267750, OMIM:genemap2] +synonym: "Knobloch syndrome type 1" EXACT [MONDORULE:1] +synonym: "Knobloch syndrome, type 1" EXACT [] synonym: "Knobloch-Layer syndrome" EXACT [Orphanet:1571] synonym: "myopia retinal detachment encephalocele" RELATED [GARD:0000380] -synonym: "retinal detachment and occipital encephalocele" RELATED [OMIM:267750] +synonym: "retinal detachment and occipital encephalocele" RELATED [] synonym: "retinal detachment-occipital encephalocele syndrome" EXACT [Orphanet:1571] xref: GARD:380 {source="MONDO:GARD"} xref: ICD10CM:Q15.8 {source="Orphanet:1571", source="Orphanet:1571/attributed", source="Orphanet:1571/ntbt"} @@ -549554,7 +549650,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800195 name: achalasia-alacrima syndrome -synonym: "AAAS" EXACT ABBREVIATION [OMIM:231550] +synonym: "AAAS" EXACT ABBREVIATION [] xref: OMIM:231550 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI @@ -549565,7 +549661,7 @@ name: achromatopsia 5 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "ACHM5" EXACT ABBREVIATION [OMIM:613093] +synonym: "ACHM5" EXACT ABBREVIATION [] xref: MEDGEN:416519 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613093 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C2751309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:416519"} @@ -549579,7 +549675,7 @@ id: MONDO:0800197 name: achromatopsia 6 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ACHM6" EXACT ABBREVIATION [OMIM:610024] +synonym: "ACHM6" EXACT ABBREVIATION [] xref: MEDGEN:765141 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610024 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3552227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:765141"} @@ -549592,7 +549688,7 @@ name: alopecia universalis subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "AU" EXACT ABBREVIATION [OMIM:104000] +synonym: "AU" EXACT ABBREVIATION [] xref: icd11.foundation:69070500 {source="MONDO:equivalentTo"} xref: MEDGEN:120481 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:104000 {source="MONDO:includedEntryInOMIM"} @@ -549618,7 +549714,7 @@ id: MONDO:0800200 name: arthrogryposis, distal, type 2B4 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "DA2B4" EXACT ABBREVIATION [OMIM:108120] +synonym: "DA2B4" EXACT ABBREVIATION [] xref: MEDGEN:1682592 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:108120 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C5193002 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1682592"} @@ -549631,7 +549727,7 @@ name: baldness, male pattern subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "MPB" EXACT ABBREVIATION [OMIM:109200] +synonym: "MPB" EXACT ABBREVIATION [] xref: MEDGEN:904995 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:109200 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4083212 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:904995"} @@ -549644,7 +549740,7 @@ name: calvarial doughnut lesions with bone fragility and spondylometaphyseal dys subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CDLSMD" EXACT ABBREVIATION [OMIM:126550] +synonym: "CDLSMD" EXACT ABBREVIATION [] xref: MEDGEN:1674505 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:126550 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C5193004 {source="MEDGEN:1674505", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -549656,7 +549752,7 @@ id: MONDO:0800206 name: epidermolysis bullosa dystrophica with subcorneal cleavage subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "EBDSC" EXACT ABBREVIATION [OMIM:131750] +synonym: "EBDSC" EXACT ABBREVIATION [] xref: MEDGEN:436495 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:131750 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C2675683 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:436495"} @@ -549669,7 +549765,7 @@ name: neuropathy, small fiber subset: gard_rare {source="MONDO:GARD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "SFNP" EXACT ABBREVIATION [OMIM:133020] +synonym: "SFNP" EXACT ABBREVIATION [] xref: MEDGEN:478336 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:133020 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3276706 {source="MONDO:equivalentTo", source="MEDGEN:478336", source="MONDO:MEDGEN"} @@ -549681,7 +549777,7 @@ id: MONDO:0800209 name: fibrosis of extraocular muscles, congenital, 3b subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CFEOM3B" EXACT ABBREVIATION [OMIM:135700] +synonym: "CFEOM3B" EXACT ABBREVIATION [] xref: MEDGEN:416468 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:135700 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C2751105 {source="MEDGEN:416468", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -549693,7 +549789,7 @@ id: MONDO:0800210 name: glaucoma 1, open angle, l subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "GLC1L" EXACT ABBREVIATION [OMIM:137750] +synonym: "GLC1L" EXACT ABBREVIATION [] xref: OMIM:137750 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0020367 {source="https://orcid.org/0000-0001-5208-3432"} ! juvenile open angle glaucoma property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI @@ -549701,7 +549797,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800215 name: multicentric Castleman disease, susceptibility to -synonym: "MCD" EXACT ABBREVIATION [OMIM:148000] +synonym: "MCD" EXACT ABBREVIATION [] xref: MEDGEN:762089 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:148000 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3541461 {source="MEDGEN:762089", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -549711,7 +549807,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800222 name: pelvic organ prolapse, susceptibility to, 1 -synonym: "PVOP1" EXACT ABBREVIATION [OMIM:176780] +synonym: "PVOP1" EXACT ABBREVIATION [] xref: OMIM:176780 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI @@ -549719,7 +549815,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800224 name: amyotrophic lateral sclerosis, susceptibility to, 13 -synonym: "ALS13" EXACT ABBREVIATION [OMIM:183090] +synonym: "ALS13" EXACT ABBREVIATION [] xref: MEDGEN:461257 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:183090 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3149907 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461257"} @@ -549729,7 +549825,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800226 name: strabismus, susceptibility to, 1 -synonym: "STBMS1" EXACT ABBREVIATION [OMIM:185100] +synonym: "STBMS1" EXACT ABBREVIATION [] xref: MEDGEN:350027 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:185100 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1861450 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:350027"} @@ -549742,7 +549838,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800250 name: Graves disease, susceptibility to, X-linked 2 -synonym: "GRDX2" EXACT ABBREVIATION [OMIM:300351] +synonym: "GRDX2" EXACT ABBREVIATION [] xref: MEDGEN:394751 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300351 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C2678152 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394751"} @@ -549752,7 +549848,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800261 name: autoimmune thyroid disease, susceptibility to, 5 -synonym: "AITD5" EXACT ABBREVIATION [OMIM:601941] +synonym: "AITD5" EXACT ABBREVIATION [] xref: MEDGEN:411625 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601941 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C2748621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:411625"} @@ -549763,12 +549859,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0800268 name: atrioventricular septal defect, susceptibility to, 1 subset: predisposition -synonym: "atrioventricular canal defect" RELATED [OMIM:606215] -synonym: "atrioventricular septal defect" RELATED [MONDO:Lexical, OMIM:606215] -synonym: "AVC defect" RELATED [OMIM:606215] -synonym: "AVSD" RELATED ABBREVIATION [MONDO:Lexical, OMIM:606215] -synonym: "AVSD1" EXACT ABBREVIATION [MONDO:0011649, OMIM:606215] -synonym: "endocardial cushion defect" RELATED [OMIM:606215] +synonym: "atrioventricular canal defect" RELATED [] +synonym: "atrioventricular septal defect" RELATED [MONDO:Lexical] +synonym: "AVC defect" RELATED [] +synonym: "AVSD" RELATED ABBREVIATION [MONDO:Lexical] +synonym: "AVSD1" EXACT ABBREVIATION [MONDO:0011649] +synonym: "endocardial cushion defect" RELATED [] xref: MEDGEN:342900 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:606215 {source="MONDO:includedEntryInOMIM"} xref: Orphanet:98722 {source="OMIM:606215"} @@ -549782,7 +549878,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800271 name: epilepsy, juvenile myoclonic, susceptibility to, 6 -synonym: "EJM6" EXACT ABBREVIATION [OMIM:607682] +synonym: "EJM6" EXACT ABBREVIATION [] xref: MEDGEN:442587 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607682 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C2750888 {source="MEDGEN:442587", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -549792,7 +549888,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800274 name: autoimmune disease, susceptibility to, 5 -synonym: "AIS5" EXACT ABBREVIATION [OMIM:611598] +synonym: "AIS5" EXACT ABBREVIATION [] xref: MEDGEN:369911 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611598 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1969031 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369911"} @@ -549802,7 +549898,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800275 name: autism, susceptibility to, 14a -synonym: "AUTS14A" EXACT ABBREVIATION [OMIM:611913] +synonym: "AUTS14A" EXACT ABBREVIATION [] xref: MEDGEN:765405 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611913 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3552491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:765405"} @@ -549813,7 +549909,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800279 name: epilepsy, idiopathic generalized, susceptibility to, 6 -synonym: "EIG6" EXACT ABBREVIATION [OMIM:611942] +synonym: "EIG6" EXACT ABBREVIATION [] xref: MEDGEN:394369 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611942 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C2677793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394369"} @@ -549823,7 +549919,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800287 name: autism, susceptibility to, 14b -synonym: "AUTS14B" EXACT ABBREVIATION [OMIM:614671] +synonym: "AUTS14B" EXACT ABBREVIATION [] xref: MEDGEN:766322 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614671 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3553408 {source="MEDGEN:766322", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -549836,7 +549932,7 @@ id: MONDO:0800290 name: Li-fraumeni-like syndrome subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "LFL" EXACT ABBREVIATION [OMIM:151623] +synonym: "LFL" EXACT ABBREVIATION [] xref: MEDGEN:382523 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:151623 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C2675080 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:382523"} @@ -549849,7 +549945,7 @@ name: crossed polydactyly, type I subset: gard_rare {source="GARD:1616", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CP1" EXACT ABBREVIATION [OMIM:174700] +synonym: "CP1" EXACT ABBREVIATION [] xref: GARD:1616 {source="MONDO:GARD"} xref: MEDGEN:357421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:174700 {source="MONDO:includedEntryInOMIM"} @@ -549868,7 +549964,7 @@ replaced_by: MONDO:0018581 [Term] id: MONDO:0800296 name: microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 -synonym: "MRCS2" EXACT [OMIM:193220] +synonym: "MRCS2" EXACT [] xref: MEDGEN:1763512 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:193220 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C5435648 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1763512"} @@ -549890,7 +549986,7 @@ id: MONDO:0800298 name: peroxisome biogenesis disorder, complementation group 2 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CG2" EXACT [OMIM:214110] +synonym: "CG2" EXACT [] xref: MEDGEN:763188 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:214110 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3550274 {source="MEDGEN:763188", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -549900,7 +549996,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800299 name: myopathy, congenital, with excess of muscle spindles -synonym: "CMEMS" EXACT [OMIM:218040] +synonym: "CMEMS" EXACT [] xref: MEDGEN:369344 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:218040 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1968782 {source="MEDGEN:369344", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -549910,7 +550006,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800300 name: black locks with albinism and deafness syndrome -synonym: "BADS" EXACT ABBREVIATION [OMIM:227010] +synonym: "BADS" EXACT ABBREVIATION [] xref: MEDGEN:82812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:227010 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C0268501 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82812"} @@ -549922,7 +550018,7 @@ id: MONDO:0800301 name: Friedreich ataxia with retained reflexes subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "FARR" EXACT ABBREVIATION [OMIM:229300] +synonym: "FARR" EXACT ABBREVIATION [] xref: MEDGEN:376121 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:229300 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1847416 {source="MEDGEN:376121", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -549935,7 +550031,7 @@ name: glycogen storage disease Id subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "GSD1D" EXACT ABBREVIATION [OMIM:232240] +synonym: "GSD1D" EXACT ABBREVIATION [] xref: MEDGEN:87456 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:232240 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C0342750 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:87456"} @@ -549956,7 +550052,7 @@ id: MONDO:0800304 name: neuropathy, hereditary sensory and autonomic, type IId subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "HSAN2D" EXACT [OMIM:243000] +synonym: "HSAN2D" EXACT [] xref: MEDGEN:860491 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:243000 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4012054 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:860491"} @@ -549969,7 +550065,7 @@ id: MONDO:0800305 name: myelofibrosis with myeloid metaplasia subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "MMM" EXACT [OMIM:254450] +synonym: "MMM" EXACT [] xref: icd11.foundation:673220507 {source="MONDO:equivalentTo"} xref: OMIM:254450 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0009692 {source="https://orcid.org/0000-0001-5208-3432", source="icd11.foundation:673220507"} ! primary myelofibrosis @@ -549982,10 +550078,10 @@ def: "Any Lafora disease in which the cause of the disease is a variation in the subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "epilepsy, progressive myoclonic, 2B" EXACT [OMIM:620681] -synonym: "EPM2B" EXACT ABBREVIATION [OMIM:254780] +synonym: "EPM2B" EXACT ABBREVIATION [] synonym: "Lafora disease 2" EXACT [OMIM:620681] -synonym: "MELF2" EXACT [OMIM:620681] -synonym: "myoclonic epilepsy of Lafora 2" EXACT [MONDO:0958201] +synonym: "MELF2" EXACT ABBREVIATION [OMIM:620681] +synonym: "myoclonic epilepsy of Lafora 2" EXACT [MONDO:0958201, OMIM:620681] xref: MEDGEN:340621 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620681 {source="MONDO:equivalentTo"} xref: UMLS:C1850764 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:340621"} @@ -550000,7 +550096,7 @@ id: MONDO:0800307 name: de la Chapelle dysplasia subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "DLCD" EXACT ABBREVIATION [OMIM:256050] +synonym: "DLCD" EXACT ABBREVIATION [] xref: icd11.foundation:248590292 {source="MONDO:equivalentTo"} xref: MEDGEN:342529 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:256050 {source="MONDO:includedEntryInOMIM"} @@ -550013,7 +550109,7 @@ id: MONDO:0800308 name: orotic aciduria without megaloblastic anemia subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "OAWA" EXACT [OMIM:258900] +synonym: "OAWA" EXACT [] xref: MEDGEN:480252 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:258900 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3278622 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:480252"} @@ -550024,7 +550120,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800310 name: pregnancy loss, recurrent, 4 -synonym: "RPRGL4" EXACT [OMIM:270960] +synonym: "RPRGL4" EXACT [] xref: MEDGEN:481067 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:270960 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3279437 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481067"} @@ -550038,7 +550134,7 @@ id: MONDO:0800311 name: vas deferens, congenital unilateral aplasia of subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CUAVD" EXACT [OMIM:277180] +synonym: "CUAVD" EXACT [] xref: MEDGEN:1712847 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:277180 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C5393224 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712847"} @@ -550050,7 +550146,7 @@ id: MONDO:0800312 name: wooly hair, autosomal recessive 1, with or without hypotrichosis subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ARWH1" EXACT [OMIM:278150] +synonym: "ARWH1" EXACT [] xref: MEDGEN:341227 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:278150 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1848435 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:341227"} @@ -550062,7 +550158,7 @@ id: MONDO:0800313 name: xeroderma pigmentosum, type F/Cockayne syndrome subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "XPF/CS" EXACT ABBREVIATION [OMIM:278760] +synonym: "XPF/CS" EXACT ABBREVIATION [] xref: MEDGEN:812895 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:278760 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3806565 {source="MEDGEN:812895", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550075,7 +550171,7 @@ name: xeroderma pigmentosum, type G/Cockayne syndrome subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "XPG/CS" EXACT ABBREVIATION [OMIM:278780] +synonym: "XPG/CS" EXACT ABBREVIATION [] xref: MEDGEN:409618 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:278780 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1968561 {source="MEDGEN:409618", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550096,7 +550192,7 @@ id: MONDO:0800317 name: premature ovarian failure 4 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "POF4" EXACT [OMIM:300510] +synonym: "POF4" EXACT [] xref: MEDGEN:336904 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300510 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1845295 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:336904"} @@ -550108,7 +550204,7 @@ id: MONDO:0800318 name: Emery-Dreifuss muscular dystrophy 6, X-linked subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "EDMD6" EXACT ABBREVIATION [OMIM:300696] +synonym: "EDMD6" EXACT ABBREVIATION [] xref: MEDGEN:440709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:300696 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C2749106 {source="MEDGEN:440709", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550120,7 +550216,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800319 name: cone dystrophy 5, X-linked -synonym: "COD5" EXACT ABBREVIATION [OMIM:303700] +synonym: "COD5" EXACT ABBREVIATION [] xref: MEDGEN:854645 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:303700 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3887937 {source="MEDGEN:854645", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550130,7 +550226,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800320 name: cone dystrophy 1, X-linked -synonym: "COD1" EXACT ABBREVIATION [OMIM:304020] +synonym: "COD1" EXACT ABBREVIATION [] xref: MEDGEN:336778 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:304020 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1844777 {source="MEDGEN:336778", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550142,7 +550238,7 @@ id: MONDO:0800321 name: congenital heart defects, multiple types, 1, X-linked subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CHTD1" EXACT ABBREVIATION [OMIM:306955] +synonym: "CHTD1" EXACT ABBREVIATION [] xref: MEDGEN:463217 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:306955 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3151867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:463217"} @@ -550152,7 +550248,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800322 name: membranous obstruction of inferior vena cava -synonym: "MOVC" EXACT [OMIM:600880] +synonym: "MOVC" EXACT [] xref: MEDGEN:107472 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600880 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C0546323 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:107472"} @@ -550164,7 +550260,7 @@ id: MONDO:0800323 name: long QT syndrome 4 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "LQT4" EXACT [OMIM:600919] +synonym: "LQT4" EXACT [] xref: MEDGEN:331449 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:600919 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1833154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:331449"} @@ -550176,7 +550272,7 @@ id: MONDO:0800324 name: microphthalmia, isolated, with coloboma 8 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "MCOPCB8" EXACT [OMIM:601186] +synonym: "MCOPCB8" EXACT [] xref: MEDGEN:761921 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601186 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3540845 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:761921"} @@ -550188,7 +550284,7 @@ id: MONDO:0800326 name: cone-rod dystrophy 14 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CORD14" EXACT ABBREVIATION [OMIM:602093] +synonym: "CORD14" EXACT ABBREVIATION [] xref: OMIM:602093 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0015993 {source="https://orcid.org/0000-0001-5208-3432"} ! cone-rod dystrophy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI @@ -550198,7 +550294,7 @@ id: MONDO:0800328 name: retinitis pigmentosa 94, variable age at onset subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "RP94" EXACT ABBREVIATION [OMIM:604232] +synonym: "RP94" EXACT ABBREVIATION [] xref: MEDGEN:1805655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604232 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C5676889 {source="MEDGEN:1805655", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550208,7 +550304,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800329 name: febrile seizures, familial, 3a -synonym: "FEB3A" EXACT ABBREVIATION [OMIM:604403] +synonym: "FEB3A" EXACT ABBREVIATION [] xref: MEDGEN:442807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604403 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C2751756 {source="MEDGEN:442807", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550220,7 +550316,7 @@ id: MONDO:0800330 name: myoclonic epilepsy, juvenile, 2 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "EJM2" EXACT [OMIM:604827] +synonym: "EJM2" EXACT [] xref: MEDGEN:854640 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:604827 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3887932 {source="MEDGEN:854640", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550233,7 +550329,7 @@ id: MONDO:0800331 name: hyperglycinemia, transient neonatal subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "TNH" EXACT ABBREVIATION [OMIM:605899] +synonym: "TNH" EXACT ABBREVIATION [] xref: MEDGEN:82818 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:605899 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C0268560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:82818"} @@ -550245,7 +550341,7 @@ id: MONDO:0800335 name: migraine, familial hemiplegic, 4 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "FHM4" EXACT [OMIM:607516] +synonym: "FHM4" EXACT [] xref: MEDGEN:334830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607516 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1843766 {source="MONDO:equivalentTo", source="MEDGEN:334830", source="MONDO:MEDGEN"} @@ -550255,7 +550351,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800337 name: acute tubulointerstitial nephritis -synonym: "ATIN" EXACT ABBREVIATION [OMIM:607665] +synonym: "ATIN" EXACT ABBREVIATION [] xref: MEDGEN:334716 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:607665 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1843274 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:334716"} @@ -550267,7 +550363,7 @@ id: MONDO:0800339 name: laryngospasm, severe neonatal episodic subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "SNEL" EXACT [OMIM:608390] +synonym: "SNEL" EXACT [] xref: MEDGEN:460867 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608390 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3149517 {source="MEDGEN:460867", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550277,7 +550373,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800340 name: seasonal affective disorder, susceptibility to -synonym: "SAD, susceptibility to" EXACT [OMIM:608516] +synonym: "SAD, susceptibility to" EXACT [] xref: OMIM:608516 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0020573 {source="https://orcid.org/0000-0001-5208-3432"} ! inherited disease susceptibility relationship: predisposes_towards MONDO:0000694 {source="https://orcid.org/0000-0001-5208-3432"} ! seasonal affective disorder @@ -550289,12 +550385,12 @@ name: congenital myopathy 4A, autosomal dominant subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "cap myopathy 1" EXACT [] -synonym: "CAPM1" EXACT ABBREVIATION [OMIM:255310] -synonym: "CFTD" EXACT ABBREVIATION [OMIM:255310] -synonym: "CFTDM" EXACT ABBREVIATION [OMIM:255310] +synonym: "CAPM1" EXACT ABBREVIATION [] +synonym: "CFTD" EXACT ABBREVIATION [] +synonym: "CFTDM" EXACT ABBREVIATION [] synonym: "fiber-type disproportion myopathy, congenital" EXACT [OMIM:255310] synonym: "myopathy, congenital, with fiber-type disproportion" EXACT [OMIM:255310] -synonym: "NEM1" EXACT ABBREVIATION [OMIM:255310] +synonym: "NEM1" EXACT ABBREVIATION [] synonym: "nemaline myopathy 1" EXACT [OMIM:255310] xref: OMIM:255310 {source="MONDO:equivalentTo"} is_a: MONDO:0019952 {source="OMIM:255310"} ! congenital myopathy @@ -550323,7 +550419,7 @@ replaced_by: MONDO:0016202 [Term] id: MONDO:0800344 name: brachydactyly-syndactyly-oligodactyly syndrome -synonym: "BDSDO" EXACT ABBREVIATION [OMIM:610713] +synonym: "BDSDO" EXACT ABBREVIATION [] xref: MEDGEN:934774 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:610713 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4310807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:934774"} @@ -550335,7 +550431,7 @@ id: MONDO:0800345 name: atrial fibrillation, familial, 17 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ATFB17" EXACT ABBREVIATION [OMIM:611819] +synonym: "ATFB17" EXACT ABBREVIATION [] xref: MEDGEN:861997 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611819 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4013560 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:861997"} @@ -550347,7 +550443,7 @@ id: MONDO:0800346 name: left ventricular noncompaction 9 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "LVNC9" EXACT [OMIM:611878] +synonym: "LVNC9" EXACT [] xref: MEDGEN:814475 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:611878 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3808145 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:814475"} @@ -550359,7 +550455,7 @@ id: MONDO:0800347 name: cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CMH23" EXACT ABBREVIATION [OMIM:612158] +synonym: "CMH23" EXACT ABBREVIATION [] xref: OMIM:612158 {source="MONDO:includedEntryInOMIM"} is_a: MONDO:0024573 {source="https://orcid.org/0000-0001-5208-3432"} ! familial hypertrophic cardiomyopathy property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5507" xsd:anyURI @@ -550369,7 +550465,7 @@ id: MONDO:0800348 name: retinitis pigmentosa 53 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "RP53" EXACT ABBREVIATION [OMIM:612712] +synonym: "RP53" EXACT ABBREVIATION [] xref: MEDGEN:461558 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:612712 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3150208 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:461558"} @@ -550381,7 +550477,7 @@ id: MONDO:0800349 name: atrial fibrillation, familial, 16 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "ATFB16" EXACT ABBREVIATION [OMIM:613120] +synonym: "ATFB16" EXACT ABBREVIATION [] xref: MEDGEN:862136 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613120 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4013699 {source="MEDGEN:862136", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550393,7 +550489,7 @@ id: MONDO:0800350 name: left ventricular noncompaction 4 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "LVNC4" EXACT [OMIM:613424] +synonym: "LVNC4" EXACT [] xref: MEDGEN:462032 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613424 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3150682 {source="MEDGEN:462032", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550405,7 +550501,7 @@ id: MONDO:0800351 name: left ventricular noncompaction 5 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "LVNC5" EXACT ABBREVIATION [OMIM:613426] +synonym: "LVNC5" EXACT ABBREVIATION [] xref: MEDGEN:462040 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613426 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3150690 {source="MEDGEN:462040", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550418,7 +550514,7 @@ name: retinitis pigmentosa 65 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RP65" EXACT ABBREVIATION [OMIM:613660] +synonym: "RP65" EXACT ABBREVIATION [] xref: MEDGEN:765766 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613660 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3552852 {source="MONDO:equivalentTo", source="MEDGEN:765766", source="MONDO:MEDGEN"} @@ -550430,7 +550526,7 @@ id: MONDO:0800353 name: congenital disorder of glycosylation, type Ibb subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CDG1BB" EXACT ABBREVIATION [OMIM:613861] +synonym: "CDG1BB" EXACT ABBREVIATION [] xref: MEDGEN:1637983 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613861 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4693133 {source="MEDGEN:1637983", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550440,7 +550536,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800354 name: febrile seizures, familial, 3b -synonym: "FEB3B" EXACT ABBREVIATION [OMIM:613863] +synonym: "FEB3B" EXACT ABBREVIATION [] xref: MEDGEN:462579 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613863 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3151229 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462579"} @@ -550450,7 +550546,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800355 name: parasomnia, sleep terrors type -synonym: "PSMNST" EXACT ABBREVIATION [OMIM:613938] +synonym: "PSMNST" EXACT ABBREVIATION [] xref: MEDGEN:462714 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613938 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3151364 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:462714"} @@ -550463,7 +550559,7 @@ name: short-rib thoracic dysplasia 7/20 with polydactyly, digenic subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "SRTD7/20" EXACT ABBREVIATION [OMIM:614091] +synonym: "SRTD7/20" EXACT ABBREVIATION [] xref: MEDGEN:1662086 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614091 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4747658 {source="MONDO:equivalentTo", source="MEDGEN:1662086", source="MONDO:MEDGEN"} @@ -550475,7 +550571,7 @@ id: MONDO:0800357 name: hyperpigmentation, progressive cribriform and zosteriform subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "PCZH" EXACT ABBREVIATION [OMIM:614323] +synonym: "PCZH" EXACT ABBREVIATION [] xref: MEDGEN:75526 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614323 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C0263579 {source="MEDGEN:75526", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550485,7 +550581,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800358 name: schizophrenia 17 -synonym: "SCZD17" EXACT ABBREVIATION [OMIM:614332] +synonym: "SCZD17" EXACT ABBREVIATION [] xref: MEDGEN:482154 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614332 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3280524 {source="MEDGEN:482154", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550498,7 +550594,7 @@ name: retinitis pigmentosa 64 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "RP64" EXACT ABBREVIATION [OMIM:614500] +synonym: "RP64" EXACT ABBREVIATION [] xref: MEDGEN:482676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614500 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3281046 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482676"} @@ -550510,7 +550606,7 @@ id: MONDO:0800363 name: Joubert syndrome 19 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "JBTS19" EXACT ABBREVIATION [OMIM:614844] +synonym: "JBTS19" EXACT ABBREVIATION [] xref: MEDGEN:766760 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614844 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3553846 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:766760"} @@ -550522,7 +550618,7 @@ id: MONDO:0800364 name: peroxisome biogenesis disorder, complementation group 3 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CG3" EXACT ABBREVIATION [OMIM:614859] +synonym: "CG3" EXACT ABBREVIATION [] xref: MEDGEN:356508 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614859 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1866340 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:356508"} @@ -550536,7 +550632,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "CGK" EXACT ABBREVIATION [OMIM:614887] +synonym: "CGK" EXACT ABBREVIATION [] xref: MEDGEN:356487 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614887 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1866257 {source="MEDGEN:356487", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550548,7 +550644,7 @@ id: MONDO:0800366 name: dyskeratosis congenita, autosomal dominant 4 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "DKCA4" EXACT ABBREVIATION [OMIM:615190] +synonym: "DKCA4" EXACT ABBREVIATION [DOID:0070020] xref: DOID:0070020 {source="MONDO:equivalentTo"} xref: MEDGEN:815132 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615190 {source="MONDO:includedEntryInOMIM"} @@ -550562,7 +550658,7 @@ name: cardiomyopathy, dilated, 1LL subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMD1LL" EXACT ABBREVIATION [OMIM:615373] +synonym: "CMD1LL" EXACT ABBREVIATION [] xref: MEDGEN:815619 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615373 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3809289 {source="MEDGEN:815619", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550576,7 +550672,7 @@ def: "A dilated cardiomyopathy that has material basis in heterozygous mutation subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "CMD1MM" EXACT ABBREVIATION [OMIM:615396] +synonym: "CMD1MM" EXACT ABBREVIATION [] xref: DOID:0081158 {source="MONDO:equivalentTo"} xref: MEDGEN:815676 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615396 {source="MONDO:includedEntryInOMIM"} @@ -550589,7 +550685,7 @@ id: MONDO:0800369 name: parkinson disease 19B, early-onset subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "PARK19B" EXACT ABBREVIATION [OMIM:615528] +synonym: "PARK19B" EXACT ABBREVIATION [] xref: MEDGEN:934769 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:615528 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4310802 {source="MEDGEN:934769", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550602,7 +550698,7 @@ name: dyskeratosis congenita, autosomal recessive 7 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DKCB7" EXACT ABBREVIATION [OMIM:616553] +synonym: "DKCB7" EXACT ABBREVIATION [] xref: MEDGEN:903803 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616553 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4225283 {source="MEDGEN:903803", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550616,7 +550712,7 @@ id: MONDO:0800371 name: cardiomyopathy, familial restrictive, 5 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "RCM5" EXACT ABBREVIATION [OMIM:617047] +synonym: "RCM5" EXACT ABBREVIATION [] xref: MEDGEN:934715 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617047 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4310748 {source="MONDO:equivalentTo", source="MEDGEN:934715", source="MONDO:MEDGEN"} @@ -550629,7 +550725,7 @@ name: Joubert syndrome 29 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "JBTS29" EXACT ABBREVIATION [OMIM:617562] +synonym: "JBTS29" EXACT ABBREVIATION [] xref: DOID:0080276 {source="MONDO:equivalentTo"} xref: MEDGEN:1625238 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:617562 {source="MONDO:includedEntryInOMIM"} @@ -550653,7 +550749,7 @@ id: MONDO:0800374 name: ventricular tachycardia, catecholaminergic polymorphic 6 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CPVT6" EXACT ABBREVIATION [OMIM:618782] +synonym: "CPVT6" EXACT ABBREVIATION [] xref: MEDGEN:1712279 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618782 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C5394069 {source="MONDO:equivalentTo", source="MEDGEN:1712279", source="MONDO:MEDGEN"} @@ -550666,7 +550762,7 @@ name: developmental delay, epilepsy, and neonatal diabetes 1 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEND1" EXACT ABBREVIATION [OMIM:618856] +synonym: "DEND1" EXACT ABBREVIATION [] xref: MEDGEN:1709191 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618856 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C5394597 {source="MEDGEN:1709191", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550679,7 +550775,7 @@ name: developmental delay, epilepsy, and neonatal diabetes 2 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "DEND2" EXACT ABBREVIATION [OMIM:618857] +synonym: "DEND2" EXACT ABBREVIATION [] xref: MEDGEN:1712655 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:618857 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C5394304 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1712655"} @@ -550734,7 +550830,7 @@ id: MONDO:0800382 name: Joubert syndrome 11 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "JBTS11" EXACT ABBREVIATION [OMIM:613820] +synonym: "JBTS11" EXACT ABBREVIATION [] xref: MEDGEN:480833 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:613820 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C3279203 {source="MEDGEN:480833", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -550747,7 +550843,7 @@ name: Joubert syndrome 34 subset: gard_rare {source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} subset: rare -synonym: "JBTS34" EXACT ABBREVIATION [OMIM:614175] +synonym: "JBTS34" EXACT ABBREVIATION [] xref: MEDGEN:1612206 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614175 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C4539386 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1612206"} @@ -551099,8 +551195,8 @@ id: MONDO:0800416 name: autism, susceptibility to, 1 subset: predisposition synonym: "autism susceptibility 1" EXACT CLINGEN_LABEL [] -synonym: "autism susceptibility 1, isolated cases" EXACT [OMIM:209850, OMIM:genemap2] -synonym: "AUTS1" EXACT ABBREVIATION [OMIM:209850] +synonym: "autism susceptibility 1, isolated cases" EXACT [] +synonym: "AUTS1" EXACT ABBREVIATION [] xref: MEDGEN:369890 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:209850 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1968924 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:369890"} @@ -551112,7 +551208,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800417 name: autism, susceptibility to, 4 -synonym: "AUTS4" EXACT ABBREVIATION [OMIM:608636] +synonym: "AUTS4" EXACT ABBREVIATION [] xref: MEDGEN:361812 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:608636 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1876176 {source="MEDGEN:361812", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -551176,7 +551272,7 @@ id: MONDO:0800423 name: colorectal cancer, susceptibility to, 4 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "CRCS4" EXACT ABBREVIATION [OMIM:60122] +synonym: "CRCS4" EXACT ABBREVIATION [] xref: MEDGEN:394248 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:601228 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C2677290 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:394248"} @@ -551234,7 +551330,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800429 name: dyslexia, susceptibility to, 4 -synonym: "DYX4" EXACT ABBREVIATION [OMIM:127700] +synonym: "DYX4" EXACT ABBREVIATION [] xref: MEDGEN:338829 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:127700 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1851968 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:338829"} @@ -551245,7 +551341,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800430 name: dyslexia, susceptibility to, 7 -synonym: "DYX7" EXACT ABBREVIATION [OMIM:127700] +synonym: "DYX7" EXACT ABBREVIATION [] xref: MEDGEN:338830 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:127700 {source="MONDO:includedEntryInOMIM"} xref: UMLS:C1851969 {source="MEDGEN:338830", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -551317,9 +551413,9 @@ subset: ordo_malformation_syndrome {source="Orphanet:1394"} subset: orphanet_rare {source="Orphanet:1394"} subset: rare synonym: "cerebro facio thoracic dysplasia" RELATED [GARD:0001210] -synonym: "cerebrofaciothoracic dysplasia" EXACT CLINGEN_LABEL [GARD:0001210, OMIM:213980] -synonym: "CFSMR" RELATED DEPRECATED [MONDO:Lexical, OMIM:213980] -synonym: "CFSMR1" EXACT [MONDO:Lexical, OMIM:213980] +synonym: "cerebrofaciothoracic dysplasia" EXACT CLINGEN_LABEL [GARD:0001210, OMIM:213980, Orphanet:1394] +synonym: "CFSMR" RELATED DEPRECATED [MONDO:Lexical] +synonym: "CFSMR1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:213980] synonym: "pascual-Castroviejo syndrome" RELATED [GARD:0001210] synonym: "pascual-Castroviejo syndrome type 1" EXACT [Orphanet:1394] xref: DOID:0081124 {source="MONDO:equivalentTo"} @@ -551348,14 +551444,14 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_malformation_syndrome {source="Orphanet:1358"} subset: rare synonym: "Carey Fineman Ziter syndrome" RELATED [GARD:0003889] -synonym: "Carey-Fineman-Ziter syndrome 1" EXACT [OMIM:254940, Orphanet:1358] -synonym: "CFZS" RELATED ABBREVIATION [GARD:0003889, OMIM:254940] +synonym: "Carey-Fineman-Ziter syndrome 1" EXACT [OMIM:254940] +synonym: "CFZS" RELATED ABBREVIATION [GARD:0003889] synonym: "CFZS1" EXACT ABBREVIATION [OMIM:254940] synonym: "congenital nonprogressive myopathy with Moebius and Robin sequences" RELATED [GARD:0003889] synonym: "Moebius sequence, Robin complex, and hypotonia" RELATED [GARD:0003889] synonym: "myopathy, congenital nonprogressive with Moebius and Robin sequences" RELATED [GARD:0003889] synonym: "myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence" EXACT [OMIM:254940] -synonym: "myopathy-Moebius-Robin syndrome" EXACT [Orphanet:1358] +synonym: "myopathy-Moebius-Robin syndrome" EXACT [] xref: DOID:0080194 {source="MONDO:equivalentTo"} xref: ICD10CM:Q87.0 {source="Orphanet:1358", source="Orphanet:1358/attributed", source="Orphanet:1358/ntbt"} xref: ICD9:359.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -551382,12 +551478,12 @@ subset: ordo_disorder {source="Orphanet:459061"} subset: ordo_malformation_syndrome {source="Orphanet:459061"} subset: orphanet_rare {source="Orphanet:459061"} subset: rare -synonym: "DEDSSH1" EXACT ABBREVIATION [OMIM:616901] -synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair" BROAD [OMIM:616901, OMIM:genemap2] -synonym: "developmental delay with short stature, dysmorphic features, and sparse hair 1" EXACT [OMIM:616901] -synonym: "developmental delay-short stature-dysmorphic features-sparse hair syndrome" BROAD [Orphanet:459061] -synonym: "diphtamide deficiency syndrome" EXACT [OMIM:616901] -synonym: "Loucks-Innes syndrome" RELATED [OMIM:616901] +synonym: "DEDSSH1" EXACT ABBREVIATION [DOID:0070477, OMIM:616901] +synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair" BROAD [] +synonym: "developmental delay with short stature, dysmorphic features, and sparse hair 1" EXACT [] +synonym: "developmental delay-short stature-dysmorphic features-sparse hair syndrome" BROAD [] +synonym: "diphtamide deficiency syndrome" EXACT [] +synonym: "Loucks-Innes syndrome" RELATED [] xref: DOID:0070477 {source="MONDO:equivalentTo"} xref: GARD:17814 {source="MONDO:GARD"} xref: OMIM:616901 {source="Orphanet:459061", source="MONDO:equivalentTo", source="Orphanet:459061/e"} @@ -551459,7 +551555,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:0800444 name: Birt-Hogg-Dube syndrome -synonym: "BHD" EXACT ABBREVIATION [OMIMPS:135150] +synonym: "BHD" EXACT ABBREVIATION [] xref: MEDGEN:91070 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:135150 {source="MONDO:equivalentTo"} xref: UMLS:C0346010 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:91070"} @@ -551477,8 +551573,8 @@ subset: ordo_disorder {source="Orphanet:122"} subset: ordo_malformation_syndrome {source="Orphanet:122"} subset: orphanet_rare {source="Orphanet:122"} subset: rare -synonym: "fibrofolliculomas with trichodiscomas and acrochordons" EXACT [OMIM:135150, Orphanet:122] -synonym: "Hornstein-Knickenberg syndrome" EXACT [OMIM:135150] +synonym: "fibrofolliculomas with trichodiscomas and acrochordons" EXACT [OMIM:135150] +synonym: "Hornstein-Knickenberg syndrome" EXACT [OMIM:135150, Orphanet:122] xref: DOID:0050676 {source="MONDO:equivalentTo"} xref: GARD:2322 {source="MONDO:GARD"} xref: ICD9:704.8 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -551520,7 +551616,7 @@ subset: predisposition synonym: "BDPLT13" EXACT ABBREVIATION [MONDO:Lexical, OMIM:614009] synonym: "bleeding disorder, platelet-type, 13, susceptibility to" EXACT [MONDO:Lexical, OMIM:614009] synonym: "bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor" EXACT [OMIM:614009] -synonym: "susceptibility to platelet-type bleeding disorder 13" EXACT [OMIM:614009] +synonym: "susceptibility to platelet-type bleeding disorder 13" EXACT [] xref: MEDGEN:481244 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:614009 {source="Orphanet:220443", source="MONDO:equivalentTo", source="Orphanet:220443/e"} xref: UMLS:C3279614 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481244"} @@ -551539,24 +551635,24 @@ subset: orphanet_rare {source="Orphanet:135"} subset: otar {source="MONDO:OTAR"} subset: rare synonym: "CACH" EXACT ABBREVIATION [DOID:0060868] -synonym: "CACH syndrome" RELATED [Orphanet:135] +synonym: "CACH syndrome" RELATED [] synonym: "CACH/VWM" RELATED [GARD:0000231] synonym: "CACH/VWM syndrome" RELATED [GARD:0000231] synonym: "childhood ataxia with central nervous system hypomyelination" EXACT [DOID:0060868] synonym: "childhood ataxia with central nervous system hypomyelination/vanishing white matter" RELATED [GARD:0000231] -synonym: "childhood ataxia with central nervous system hypomyelinization" RELATED [OMIM:603896] +synonym: "childhood ataxia with central nervous system hypomyelinization" RELATED [] synonym: "childhood ataxia with diffuse central nervous system hypomyelination" EXACT [Orphanet:135] -synonym: "CLE" RELATED EXCLUDE [DOID:0060868] -synonym: "Cree leukoencephalopathy" NARROW [DOID:0060868, GARD:0000231] -synonym: "leukoencephalopathy with vanishing WHITE matter" RELATED [OMIM:603896] -synonym: "leukoencephalopathy with vanishing white matter" EXACT CLINGEN_LABEL [MONDO:Lexical, OMIM:603896, Orphanet:135] +synonym: "CLE" RELATED EXCLUDE [] +synonym: "Cree leukoencephalopathy" NARROW [GARD:0000231] +synonym: "leukoencephalopathy with vanishing WHITE matter" RELATED [] +synonym: "leukoencephalopathy with vanishing white matter" EXACT CLINGEN_LABEL [DOID:0060868, MONDO:Lexical, NCIT:C122664, OMIMPS:603896, Orphanet:135] synonym: "myelinosis centralis diffusa" EXACT [Orphanet:135] -synonym: "ovarioleukodystrophy" RELATED [OMIM:603896] +synonym: "ovarioleukodystrophy" RELATED [DOID:0060868] synonym: "vanishing white matter disease" RELATED [GARD:0000231] -synonym: "vanishing White matter leukodystrophy" RELATED [OMIM:603896] -synonym: "vanishing white matter leukodystrophy" RELATED [DOID:0060868] -synonym: "vanishing White matter leukodystrophy with ovarian failure" RELATED [OMIM:603896] -synonym: "VWM" RELATED ABBREVIATION [MONDO:Lexical, OMIM:603896] +synonym: "vanishing White matter leukodystrophy" RELATED [] +synonym: "vanishing white matter leukodystrophy" RELATED [] +synonym: "vanishing White matter leukodystrophy with ovarian failure" RELATED [] +synonym: "VWM" RELATED ABBREVIATION [MONDO:Lexical] xref: DOID:0060868 {source="MONDO:equivalentTo"} xref: GARD:231 {source="MONDO:GARD"} xref: ICD10CM:E75.2 {source="Orphanet:135/attributed", source="Orphanet:135/ntbt", source="DOID:0060868", source="Orphanet:135"} @@ -551583,7 +551679,7 @@ subset: gard_rare {source="GARD:12097", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:275761"} subset: orphanet_rare {source="Orphanet:275761"} subset: rare -synonym: "LAL deficiency" EXACT [Orphanet:275761] +synonym: "LAL deficiency" EXACT [DOID:0080217, Orphanet:275761] xref: DOID:0080217 {source="MONDO:equivalentTo"} xref: GARD:12097 {source="MONDO:GARD"} xref: ICD10CM:E75.5 {source="Orphanet:275761/attributed", source="Orphanet:275761/ntbt", source="Orphanet:275761"} @@ -551616,7 +551712,7 @@ id: MONDO:0800451 name: congenital amegakaryocytic thrombocytopenia subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "congenital amegakaryocytic thrombocytopenia" EXACT CLINGEN_LABEL [OMIMPS:604498] +synonym: "congenital amegakaryocytic thrombocytopenia" EXACT CLINGEN_LABEL [icd11.foundation:801723173] xref: icd11.foundation:801723173 {source="MONDO:equivalentTo"} xref: MEDGEN:272171 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIMPS:604498 {source="MONDO:equivalentTo"} @@ -551635,11 +551731,11 @@ subset: gard_rare {source="GARD:640", source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:3319"} subset: orphanet_rare {source="Orphanet:3319"} subset: rare -synonym: "amegakaryocytic thrombocytopenia, congenital 1" EXACT [MONDO:Lexical, OMIM:604498] -synonym: "CAMT1" EXACT ABBREVIATION [DOID:0090118, MONDO:Lexical, OMIM:604498, Orphanet:3319] -synonym: "congenital amegakaryocytic thrombocytopenic purpura" EXACT [DOID:0090118, Orphanet:3319] +synonym: "amegakaryocytic thrombocytopenia, congenital 1" EXACT [MONDO:Lexical] +synonym: "CAMT1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:604498] +synonym: "congenital amegakaryocytic thrombocytopenic purpura" EXACT [DOID:0090118] synonym: "thrombocytopenia congenital amegakaryocytic" RELATED [GARD:0000640] -synonym: "thrombocytopenia, congenital amegakaryocytic" EXACT [OMIM:604498, OMIM:genemap2] +synonym: "thrombocytopenia, congenital amegakaryocytic" EXACT [] xref: DOID:0090118 {source="MONDO:equivalentTo"} xref: GARD:640 {source="MONDO:GARD"} xref: ICD10CM:D61.0 {source="Orphanet:3319/attributed", source="Orphanet:3319/ntbt", source="Orphanet:3319", source="DOID:0090118"} @@ -551931,7 +552027,7 @@ def: "A syndrome characterized by an uncommon and relatively unknown cause of fa subset: ordo_disorder {source="Orphanet:664901"} subset: orphanet_rare {source="Orphanet:664901"} subset: rare -synonym: "TTS" EXACT ABBREVIATION [PMID:37089852] +synonym: "TTS" EXACT ABBREVIATION [Orphanet:664901, PMID:37089852] xref: icd11.foundation:983392135 {source="MONDO:equivalentTo"} xref: MEDGEN:698241 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:664901 {source="MONDO:equivalentTo"} @@ -553183,10 +553279,10 @@ is_a: MONDO:0000521 {source="DOID:0080808"} ! salivary gland carcinoma id: MONDO:0850282 name: chronic asthma def: "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency." [DOID:0080809] -synonym: "adult-onset severe asthma" NARROW [DOID:0080816] -synonym: "persistent mild asthma" NARROW [DOID:0080813] -synonym: "persistent moderate asthma" NARROW [DOID:0080814] -synonym: "persistent severe asthma" NARROW [DOID:0080824] +synonym: "adult-onset severe asthma" NARROW [] +synonym: "persistent mild asthma" NARROW [] +synonym: "persistent moderate asthma" NARROW [] +synonym: "persistent severe asthma" NARROW [] xref: DOID:0080809 {source="MONDO:equivalentTo"} xref: DOID:0080813 {source="MONDO:mondoIsBroaderThanSource"} xref: DOID:0080814 {source="MONDO:mondoIsBroaderThanSource"} @@ -553238,7 +553334,7 @@ is_a: MONDO:0004765 {source="DOID:0080822"} ! intrinsic asthma id: MONDO:0850289 name: human betaherpesvirus 5 infectious disease def: "A disease caused by infection with Human betaherpesvirus 5." [DOID:0080827, MONDO:patterns/infectious_disease_by_agent] -synonym: "human cytomegalovirus infection" BROAD [DOID:0080827] +synonym: "human cytomegalovirus infection" BROAD [] xref: DOID:0080827 {source="MONDO:equivalentTo"} is_a: MONDO:0005108 {source="DOID:0080827"} ! viral infectious disease intersection_of: MONDO:0005550 ! infectious disease @@ -553279,7 +553375,7 @@ name: intracranial meningioma def: "A meningioma that arises within the cranial cavity." [DOID:0080842] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "brain meningioma" EXACT [MONDO:0000642] +synonym: "brain meningioma" EXACT [DOID:0060106, MONDO:0000642] synonym: "brain meningioma (disease)" EXACT [MONDO:patterns/location] synonym: "meningioma (disease) of brain" EXACT [] xref: DOID:0060106 {source="MONDO:equivalentTo"} @@ -554267,7 +554363,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:637013"} subset: orphanet_rare {source="Orphanet:637013"} subset: rare -synonym: "SMARCA2-related blepharophimosis-intellectual disability syndrome" EXACT [Orphanet:637013] +synonym: "SMARCA2-related blepharophimosis-intellectual disability syndrome" EXACT [DOID:0081442, Orphanet:637013] xref: DOID:0081442 {source="MONDO:equivalentTo"} xref: MEDGEN:1779966 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619293 {source="MONDO:equivalentTo"} @@ -554304,7 +554400,7 @@ def: "A syndrome that is caused by a variation in the SPEN gene and is character subset: ordo_disorder {source="Orphanet:662234"} subset: orphanet_rare {source="Orphanet:662234"} subset: rare -synonym: "SPEN-related neurodevelopmental disorder" EXACT [https://clinicalgenome.org/affiliation/40060/] +synonym: "SPEN-related neurodevelopmental disorder" EXACT [https://clinicalgenome.org/affiliation/40060/, Orphanet:662234] xref: MEDGEN:1778557 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619312 {source="MONDO:equivalentTo"} xref: Orphanet:662234 {source="MONDO:equivalentTo"} @@ -555480,7 +555576,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:661526"} subset: orphanet_rare {source="Orphanet:661526"} subset: rare -synonym: "MANS" EXACT ABBREVIATION [OMIM:619975] +synonym: "MANS" EXACT ABBREVIATION [] synonym: "MBD4-associated neoplasia syndrome" EXACT [OMIM:619975] synonym: "MBD4-related recessive tumor predisposition syndrome" EXACT CLINGEN_LABEL [https://orcid.org/0009-0004-3069-7846] synonym: "TPDS2" EXACT ABBREVIATION [OMIM:619975] @@ -555568,7 +555664,7 @@ id: MONDO:0859279 name: spinal muscular atrophy, distal, autosomal recessive, 6 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "DSMA6" EXACT ABBREVIATION [OMIM:620011] +synonym: "DSMA6" EXACT ABBREVIATION [] xref: DOID:0081425 {source="MONDO:equivalentTo"} xref: MEDGEN:1823974 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620011 {source="MONDO:equivalentTo"} @@ -555731,7 +555827,7 @@ id: MONDO:0859300 name: neuronopathy, distal hereditary motor, autosomal dominant 10 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "neuronopathy, distal hereditary motor, type X" EXACT [OMIM:620080] +synonym: "neuronopathy, distal hereditary motor, type X" EXACT [] xref: DOID:0081399 {source="MONDO:equivalentTo"} xref: MEDGEN:1824007 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620080 {source="MONDO:equivalentTo"} @@ -556359,7 +556455,7 @@ id: MONDO:0859366 name: hearing loss, autosomal dominant 85 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "deafness, autosomal dominant 85" NARROW [OMIM:620227] +synonym: "deafness, autosomal dominant 85" NARROW [] xref: MEDGEN:1824075 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620227 {source="MONDO:equivalentTo"} xref: UMLS:C5774302 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824075"} @@ -556441,7 +556537,7 @@ id: MONDO:0859374 name: hearing loss, autosomal recessive 120 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "deafness, autosomal recessive 120" NARROW [OMIM:620238] +synonym: "deafness, autosomal recessive 120" NARROW [] xref: MEDGEN:1824082 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620238 {source="MONDO:equivalentTo"} xref: UMLS:C5774309 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1824082"} @@ -557419,7 +557515,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:0957009 name: obsolete hereditary posterior fossa malformation subset: ordo_group_of_disorders {source="Orphanet:269557"} -synonym: "genetic posterior fossa malformation" EXACT [Orphanet:269557] +synonym: "genetic posterior fossa malformation" EXACT [] xref: Orphanet:269557 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -557446,7 +557542,7 @@ intersection_of: has_characteristic HP:0011463 ! Childhood onset id: MONDO:0957024 name: obsolete hereditary 46,XX disorder of sex development subset: ordo_group_of_disorders {source="Orphanet:325697"} -synonym: "genetic 46,XX disorder of sex development" EXACT [Orphanet:325697] +synonym: "genetic 46,XX disorder of sex development" EXACT [] xref: Orphanet:325697 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -557460,7 +557556,7 @@ is_obsolete: true id: MONDO:0957025 name: obsolete hereditary 46,XY disorder of sex development subset: ordo_group_of_disorders {source="Orphanet:325706"} -synonym: "genetic 46,XY disorder of sex development" EXACT [Orphanet:325706] +synonym: "genetic 46,XY disorder of sex development" EXACT [] xref: Orphanet:325706 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI @@ -557791,7 +557887,7 @@ name: developmental and epileptic encephalopathy, 31B def: "Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene." [https://orcid.org/0000-0002-0587-4693, OMIM:620352] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:620352] +synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163] synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163] xref: DOID:0070376 {source="MONDO:equivalentTo"} xref: MEDGEN:1841095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -558256,7 +558352,7 @@ subset: gard_rare {source="MONDO:GARD"} subset: ordo_disorder {source="Orphanet:652487"} subset: orphanet_rare {source="Orphanet:652487"} subset: rare -synonym: "autosomal dominant intellectual developmental disorder-72" EXACT [OMIM:620439] +synonym: "autosomal dominant intellectual developmental disorder-72" EXACT [] synonym: "developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome" EXACT [Orphanet:652487] synonym: "MRD72" EXACT ABBREVIATION [OMIM:620439] synonym: "SRRM2-related neurodevelopmental disorder" EXACT [https://orcid.org/0000-0001-9310-0163] @@ -559332,7 +559428,7 @@ name: congenital disorder of glycosylation, type IIbb subset: gard_rare {source="MONDO:GARD"} subset: rare synonym: "CDG IIbb" EXACT [OMIM:620546] -synonym: "CDGIIBB" EXACT [OMIM:620546] +synonym: "CDGIIBB" EXACT [] xref: MEDGEN:1846347 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620546 {source="MONDO:equivalentTo"} xref: UMLS:C5882705 {source="MONDO:equivalentTo", source="MEDGEN:1846347", source="MONDO:MEDGEN"} @@ -559381,7 +559477,7 @@ id: MONDO:0957825 name: hearing loss, autosomal recessive 121 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "deafness, autosomal recessive 121" NARROW [OMIM:620551] +synonym: "deafness, autosomal recessive 121" NARROW [] xref: MEDGEN:1844128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620551 {source="MONDO:equivalentTo"} xref: UMLS:C5882709 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1844128"} @@ -560729,7 +560825,7 @@ id: MONDO:0958228 name: hearing loss, autosomal recessive 122 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "deafness, autosomal recessive 122" NARROW [OMIM:620714] +synonym: "deafness, autosomal recessive 122" NARROW [] xref: OMIM:620714 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:620714", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql @@ -560762,7 +560858,7 @@ id: MONDO:0958232 name: hearing loss, autosomal dominant 90 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "deafness, autosomal dominant 90" NARROW [OMIM:620722] +synonym: "deafness, autosomal dominant 90" NARROW [] xref: OMIM:620722 {source="MONDO:equivalentTo"} is_a: MONDO:0019587 {source="OMIM:620722", source="https://orcid.org/0000-0002-4142-7153"} ! autosomal dominant nonsyndromic hearing loss relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/7601 {source="OMIM:620722"} ! MYO3A @@ -561058,7 +561154,7 @@ id: MONDO:0958277 name: hearing loss, autosomal recessive 123 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "deafness, autosomal recessive 123" NARROW [OMIM:620745] +synonym: "deafness, autosomal recessive 123" NARROW [] xref: OMIM:620745 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:620745", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql @@ -561615,7 +561711,7 @@ id: MONDO:0968981 name: autosomal recessive nonsyndromic hearing loss 124 subset: inferred_rare subset: rare -synonym: "deafness, autosomal recessive 124" NARROW [OMIM:620794] +synonym: "deafness, autosomal recessive 124" NARROW [] xref: OMIM:620794 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:620794", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql @@ -562549,7 +562645,7 @@ id: MONDO:0971152 name: hearing loss, autosomal recessive 125 subset: inferred_rare subset: rare -synonym: "deafness, autosomal recessive 125" NARROW [https://orcid.org/0000-0002-4142-7153, OMIM:620877] +synonym: "deafness, autosomal recessive 125" NARROW [https://orcid.org/0000-0002-4142-7153] xref: OMIM:620877 {source="MONDO:equivalentTo"} is_a: MONDO:0019588 {source="OMIM:620877", source="https://orcid.org/0000-0002-4142-7153"} ! hearing loss, autosomal recessive relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql @@ -588824,8 +588920,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:1030007 name: hypertensive urgency def: "A hypertensive disorder that is characterized by marked elevation in blood pressure, such as systolic blood pressure greater than 180 mmHg or diastolic blood pressure greater than 110 mmHg, and without evidence of target organ damage, such as pulmonary edema, cardiac ischemia, neurologic deficits, or acute renal failure." [https://orcid.org/0009-0009-6791-365X, icd11.foundation:896211058, PMID:30020723] -synonym: "hypertensive crisis without acute organ damage" EXACT [icd11.foundation:896211058] -synonym: "severely elevated blood pressure without acute organ damage" EXACT [icd11.foundation:896211058] +synonym: "hypertensive crisis without acute organ damage" EXACT [] +synonym: "severely elevated blood pressure without acute organ damage" EXACT [] xref: icd11.foundation:896211058 {source="MONDO:equivalentTo"} xref: NCIT:C197914 {source="MONDO:equivalentTo"} xref: SCTID:443482000 {source="MONDO:equivalentTo"} @@ -588837,14 +588933,14 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ id: MONDO:1030008 name: mitral valve insufficiency def: "A mitral valve disorder characterized by incomplete valve closure." [https://orcid.org/0009-0009-6791-365X, NCIT:C50888] -synonym: "congenital insufficiency of mitral valve" NARROW [DOID:11502] -synonym: "congenital mitral insufficiency" NARROW [DOID:11502] -synonym: "congenital mitral regurgitation" NARROW [DOID:11502] -synonym: "insufficiency, mitral" EXACT [NCIT:C50888] +synonym: "congenital insufficiency of mitral valve" NARROW [] +synonym: "congenital mitral insufficiency" NARROW [] +synonym: "congenital mitral regurgitation" NARROW [] +synonym: "insufficiency, mitral" EXACT [] synonym: "mitral insufficiency" EXACT [NCIT:C50888] synonym: "mitral regurgitation" EXACT [DOID:11502] synonym: "mitral valve incompetence" EXACT [DOID:11502] -synonym: "mitral valve insufficiency/ regurgitation" EXACT [NCIT:C50888] +synonym: "mitral valve insufficiency/ regurgitation" EXACT [] xref: DOID:11502 {source="MONDO:equivalentTo"} xref: MESH:D008944 {source="DOID:11502", source="MONDO:equivalentTo"} xref: NCIT:C50888 {source="MONDO:equivalentTo"} @@ -589237,7 +589333,7 @@ subset: ordo_disorder {source="Orphanet:611223"} subset: orphanet_rare {source="Orphanet:611223"} subset: rare synonym: "ENDOVE syndrome" EXACT [Orphanet:611223] -synonym: "ENDOVES" EXACT [Orphanet:611223] +synonym: "ENDOVES" EXACT ABBREVIATION [Orphanet:611223] xref: MEDGEN:1843345 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: Orphanet:611223 {source="MONDO:equivalentTo"} xref: UMLS:C5680225 {source="MEDGEN:1843345", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -589622,13 +589718,13 @@ subset: nord_rare {source="NORD:1849", source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:51636"} subset: orphanet_rare {source="Orphanet:51636"} subset: rare -synonym: "myelokathexis, isolated" EXACT [OMIM:193670, OMIM:genemap2] +synonym: "myelokathexis, isolated" EXACT [] synonym: "Warts, hypogammaglobulinemia, infections, and myelokathexis" EXACT [DOID:0060591] -synonym: "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome" EXACT [OMIM:193670] +synonym: "Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome" EXACT [] synonym: "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome" EXACT [DOID:0060591, Orphanet:51636] synonym: "Warts-infections-leukopenia-myelokatexis syndrome" EXACT [Orphanet:51636] -synonym: "WHIM Syndrome" EXACT [NORD:1849] -synonym: "WHIM syndrome" BROAD [MONDO:Lexical, OMIM:193670] +synonym: "WHIM Syndrome" EXACT [NORD:1849, Orphanet:51636] +synonym: "WHIM syndrome" BROAD [MONDO:Lexical] synonym: "WHIMS" EXACT ABBREVIATION [DOID:0060591, MONDO:Lexical, OMIM:193670] synonym: "WILM" EXACT ABBREVIATION [Orphanet:51636] xref: DOID:0060591 {source="MONDO:equivalentTo"} @@ -589658,11 +589754,11 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_disorder {source="Orphanet:1387"} subset: orphanet_rare {source="Orphanet:1387"} subset: rare -synonym: "cataract-intellectual disability-hypogonadism" RELATED [OMIM:212720] -synonym: "cataract-intellectual disability-hypogonadism syndrome" EXACT [Orphanet:1387] +synonym: "cataract-intellectual disability-hypogonadism" RELATED [] +synonym: "cataract-intellectual disability-hypogonadism syndrome" EXACT [DOID:0111586, Orphanet:1387] synonym: "cataract-mental retardation-hypogonadism" EXACT DEPRECATED [OMIM:212720] -synonym: "MARTSOLF syndrome" BROAD [OMIM:212720] -synonym: "Martsolf syndrome" BROAD [Orphanet:1387] +synonym: "MARTSOLF syndrome" BROAD [] +synonym: "Martsolf syndrome" BROAD [] xref: DOID:0111586 {source="MONDO:equivalentTo"} xref: GARD:3406 {source="MONDO:GARD"} xref: ICD10CM:Q87.8 {source="Orphanet:1387", source="Orphanet:1387/attributed", source="Orphanet:1387/ntbt"} @@ -589690,11 +589786,11 @@ subset: ordo_disorder {source="Orphanet:80"} subset: orphanet_rare {source="Orphanet:80"} subset: otar {source="MONDO:OTAR"} subset: rare -synonym: "antiphospholipid antibody syndrome" EXACT [DOID:2988, Orphanet:80] -synonym: "antiphospholipid syndrome" EXACT [DOID:2988] -synonym: "familial lupus anticoagulant" EXACT [Orphanet:80] -synonym: "Hughes syndrome" EXACT [Orphanet:80] -synonym: "lupus anticoagulant, familial" RELATED [OMIM:107320] +synonym: "antiphospholipid antibody syndrome" EXACT [DOID:2988, ICD10CM:D68.61, NCIT:C61283, Orphanet:80] +synonym: "antiphospholipid syndrome" EXACT [DOID:2988, ICD10CM:D68.61, icd11.foundation:1173370808, NCIT:C61283, Orphanet:80] +synonym: "familial lupus anticoagulant" EXACT [] +synonym: "Hughes syndrome" EXACT [icd11.foundation:1173370808, Orphanet:80] +synonym: "lupus anticoagulant, familial" RELATED [] xref: DOID:2988 {source="MONDO:equivalentTo"} xref: EFO:0002689 {source="MONDO:equivalentTo", source="MONDO:EFO"} xref: GARD:5824 {source="MONDO:GARD"} @@ -589723,14 +589819,14 @@ subset: nord_rare {source="MONDO:NORD"} subset: ordo_subtype_of_a_disorder {source="Orphanet:99811"} subset: rare synonym: "Argyrophil myenteric plexus deficiency of" RELATED [GARD:0003969] -synonym: "Argyrophil myenteric plexus, deficiency of" RELATED [OMIM:243180] -synonym: "intestinal pseudoobstruction due to neuronal disease" RELATED [OMIM:243180] -synonym: "neuronal intestinal dysplasia, type a" RELATED [OMIM:243180] -synonym: "NID A" RELATED [OMIM:243180] +synonym: "Argyrophil myenteric plexus, deficiency of" RELATED [] +synonym: "intestinal pseudoobstruction due to neuronal disease" RELATED [] +synonym: "neuronal intestinal dysplasia, type a" RELATED [] +synonym: "NID A" RELATED [] synonym: "pseudoobstruction chronic idiopathic intestinal neuronal type" RELATED [GARD:0003969] -synonym: "pseudoobstruction, chronic idiopathic intestinal, neuronal type" RELATED [OMIM:243180] +synonym: "pseudoobstruction, chronic idiopathic intestinal, neuronal type" RELATED [] synonym: "visceral neuropathy familial" RELATED [GARD:0003969] -synonym: "visceral neuropathy, familial, autosomal recessive" RELATED [OMIM:243180] +synonym: "visceral neuropathy, familial, autosomal recessive" RELATED [] xref: DOID:0080679 {source="MONDO:equivalentTo"} xref: GARD:3928 {source="MONDO:GARD"} xref: ICD10CM:K59.8 {source="Orphanet:99811/attributed", source="Orphanet:99811/ntbt", source="Orphanet:99811"} @@ -589756,8 +589852,8 @@ subset: ordo_disorder {source="Orphanet:456312"} subset: orphanet_rare {source="Orphanet:456312"} subset: rare synonym: "IMNEPD" EXACT ABBREVIATION [MONDO:Lexical, OMIM:616263, Orphanet:456312] -synonym: "infantile-onset multisystem neurologic, endocrine, and pancreatic disease" EXACT [OMIM:616263, OMIM:genemap2] -synonym: "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" BROAD [MONDO:Lexical, OMIM:616263] +synonym: "infantile-onset multisystem neurologic, endocrine, and pancreatic disease" EXACT [] +synonym: "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" BROAD [MONDO:Lexical] xref: GARD:17791 {source="MONDO:GARD"} xref: MEDGEN:864165 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:616263 {source="Orphanet:456312", source="MONDO:equivalentTo", source="Orphanet:456312/e"} @@ -589777,8 +589873,8 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:8000013 name: portal hypertension, noncirrhotic, 1 -synonym: "NCPH" EXACT ABBREVIATION [OMIM:617068] -synonym: "portal hypertension, noncirrhotic" BROAD [OMIM:617068] +synonym: "NCPH" EXACT ABBREVIATION [] +synonym: "portal hypertension, noncirrhotic" BROAD [] synonym: "portal hypertension, noncirrhotic; NCPH" EXACT [] xref: OMIM:617068 {source="MONDO:equivalentTo"} is_a: MONDO:0024193 {source="OMIM:617068"} ! portal hypertension, noncirrhotic @@ -589792,7 +589888,7 @@ name: familial antiphospholipid syndrome def: "Autosomal dominant form of antiphospholipid syndrome." [MONDO:patterns/autosomal_dominant] subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "antiphospholipid syndrome, familial" EXACT [GARD:0005824] +synonym: "antiphospholipid syndrome, familial" EXACT [GARD:0005824, OMIM:107320] synonym: "Hughes syndrome" BROAD [GARD:0005824] xref: MEDGEN:419641 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C531622 {source="MONDO:equivalentTo"} @@ -589813,17 +589909,17 @@ subset: ordo_disorder {source="Orphanet:983"} subset: ordo_morphological_anomaly {source="Orphanet:983"} subset: orphanet_rare {source="Orphanet:983"} subset: rare -synonym: "46, XY sex reversal 11" EXACT [OMIM:273250, OMIM:genemap2] -synonym: "anorchia, familial" RELATED [OMIM:273250] +synonym: "46, XY sex reversal 11" EXACT [] +synonym: "anorchia, familial" RELATED [] synonym: "embryonic testicular regression syndrome" EXACT [Orphanet:983] synonym: "ETRS" EXACT ABBREVIATION [Orphanet:983] synonym: "SRXY11" EXACT ABBREVIATION [OMIM:273250] -synonym: "testicular regression syndrome" EXACT [MONDO:Lexical, OMIM:273250] -synonym: "testicular regression, embryonic" RELATED [OMIM:273250] -synonym: "TRS" EXACT ABBREVIATION [MONDO:Lexical, OMIM:273250, Orphanet:983] +synonym: "testicular regression syndrome" EXACT [MONDO:Lexical, OMIM:273250, Orphanet:983] +synonym: "testicular regression, embryonic" RELATED [] +synonym: "TRS" EXACT ABBREVIATION [MONDO:Lexical, Orphanet:983] synonym: "vanishing testes syndrome" EXACT [Orphanet:983] synonym: "vanishing testis syndrome" EXACT [Orphanet:983] -synonym: "XY gonadal agenesis syndrome" RELATED [OMIM:273250] +synonym: "XY gonadal agenesis syndrome" RELATED [] xref: GARD:16552 {source="MONDO:GARD"} xref: ICD10CM:Q55.0 {source="Orphanet:983", source="Orphanet:983/e", source="Orphanet:983/specific"} xref: ICD9:752.89 {source="MONDO:relatedTo", source="MONDO:i2s"} @@ -589858,7 +589954,7 @@ subset: inferred_rare subset: rare synonym: "benign paroxysmal positional nystagmus" EXACT [DOID:13941] synonym: "benign paroxysmal positional vertigo" EXACT [DOID:13941, ICD9CM:386.11] -synonym: "BPPV" EXACT ABBREVIATION [GARD:0005915, OMIM:193007] +synonym: "BPPV" EXACT ABBREVIATION [GARD:0005915] synonym: "BRV" EXACT ABBREVIATION [MONDO:Lexical, OMIM:193007] synonym: "familial benign recurrent vertigo" EXACT [GARD:0005915] synonym: "familial vestibulopathy" EXACT [GARD:0005915] @@ -589883,8 +589979,8 @@ id: MONDO:8000019 name: vertigo, benign recurrent, 1 subset: gard_rare {source="MONDO:GARD"} subset: rare -synonym: "BRV1" EXACT ABBREVIATION [OMIM:193007] -synonym: "vertigo, benign recurrent, 1" EXACT [OMIM:193007] +synonym: "BRV1" EXACT ABBREVIATION [] +synonym: "vertigo, benign recurrent, 1" EXACT [] xref: MEDGEN:412807 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: MESH:C567620 {source="MONDO:equivalentTo"} xref: OMIM:193007 {source="MONDO:includedEntryInOMIM", source="DOID:13941"}